MCID: BRS071
MIFTS: 35

Breast-Ovarian Cancer, Familial, 1 malady

Categories: Genetic diseases, Cancer diseases, Reproductive diseases, Rare diseases

Aliases & Classifications for Breast-Ovarian Cancer, Familial, 1

About this section

Aliases & Descriptions for Breast-Ovarian Cancer, Familial, 1:

Name: Breast-Ovarian Cancer, Familial, 1 52 70 12
Ovarian Cancer Familial 1 70
 
Breast Cancer Familial 1 70
Brovca1 70

Characteristics:

HPO:

64
breast-ovarian cancer, familial, 1:
Inheritance: autosomal dominant inheritance, multifactorial inheritance

Classifications:



External Ids:

OMIM52 604370

Summaries for Breast-Ovarian Cancer, Familial, 1

About this section
UniProtKB/Swiss-Prot:70 Breast-ovarian cancer, familial, 1: A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate.

MalaCards based summary: Breast-Ovarian Cancer, Familial, 1, also known as ovarian cancer familial 1, is related to brca1 hereditary breast and ovarian cancer syndrome and peroxisome biogenesis disorder 5a, and has symptoms including breast carcinoma An important gene associated with Breast-Ovarian Cancer, Familial, 1 is BRCA1 (BRCA1, DNA Repair Associated), and among its related pathways are DNA damage_ATM/ATR regulation of G1/S checkpoint and DNA Double Strand Break Response. Affiliated tissues include breast, prostate and ovary, and related mouse phenotypes are Decreased homologous recombination repair frequency and Decreased viability after ionizing radiation.

Description from OMIM:52 604370

Related Diseases for Breast-Ovarian Cancer, Familial, 1

About this section

Diseases in the Hereditary Breast Ovarian Cancer family:

Breast-Ovarian Cancer, Familial, 2 Breast-Ovarian Cancer, Familial 4
breast-ovarian cancer, familial, 1 Breast-Ovarian Cancer, Familial 3
Rad51c-Related Familial Susceptibility to Breast-Ovarian Cancer Rad51d-Related Familial Susceptibility to Breast-Ovarian Cancer

Diseases related to Breast-Ovarian Cancer, Familial, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1brca1 hereditary breast and ovarian cancer syndrome10.8
2peroxisome biogenesis disorder 5a9.9BRCA1, NBN
3congenital pulmonary veins atresia or stenosis9.8BRCA1, BRCA2
4bronchopulmonary dysplasia9.8BRCA1, BRCA2
5cutaneous lupus erythematosus9.8BRCA1, BRCA2
6autoimmune disease of blood9.8BRCA1, BRCA2
7selective ige deficiency disease9.8BRCA1, BRCA2
8familial breast cancer9.8BRCA1, BRCA2
9cervical serous adenocarcinoma9.8BRCA1, BRCA2
10fat necrosis of breast9.8BRCA1, BRCA2
11amyloid tumor9.8BRCA1, BRCA2
12ovarian brenner tumor9.8BRCA1, BRCA2
13fallopian tube germ cell cancer9.8BRCA1, BRCA2
14rectum mucinous adenocarcinoma9.8BRCA1, BRCA2
15chronic frontal sinusitis9.8BRCA1, BRCA2
16papillary adenofibroma9.8BRCA1, BRCA2
17internal auditory canal lipoma9.8BRCA1, BRCA2
18ovarian cancer, somatic9.8BRCA1, BRCA2
19spindle cell synovial sarcoma9.8BRCA1, BRCA2
20leiomyosarcoma9.8BRCA1, BRCA2
21breast squamous cell carcinoma9.8BRCA1, BRCA2
22distal monosomy 9p9.8BRCA1, BRCA2
23mediastinal neurilemmoma9.7BRCA1, BRCA2
24myasthenia gravis, limb-girdle9.7BRCA1, BRCA2
25ductal carcinoma in situ9.7BRCA1, BRCA2
26dental caries9.7BRCA1, BRCA2
27milker's nodule9.7BRCA1, BRCA2
28ovarian wilms' cancer9.7BRCA1, BRCA2
29lung carcinoma in situ9.7BRCA1, BRCA2
30pineal region meningioma9.7BRCA1, BRCA2
31estrogen-receptor negative breast cancer9.7BRCA1, BRCA2
32lipoma of the rectum9.6BRCA1, BRCA2
33trachea sarcoma9.6BRCA1, BRCA2
34brittle bone syndrome lethal type9.6BRCA1, BRCA2
35dysostosis9.6BRCA1, BRCA2
36bejel9.5BRCA1, BRCA2
37nasopharyngeal carcinoma9.5BRCA1, BRCA2
38breast cancer, childhood9.4BRCA1, BRCA2, NBN
39lethal congenital contracture syndrome 79.4BRCA1, BRCA2, NBN
40visual cortex disease9.4BRCA1, BRCA2, NBN
41tumor predisposition syndrome9.4BRCA1, BRCA2, NBN
42short-rib thoracic dysplasia 3 with or without polydactyly9.4BRCA1, BRCA2, NBN
43arthrogryposis, renal dysfunction, and cholestasis 19.4BRCA1, BRCA2
44lymphedema-distichiasis syndrome9.4BRCA1, BRCA2, NBN
45hidrocystoma9.2BRCA1, BRCA2
46prostate cancer9.0BRCA1, BRCA2, NBN

Graphical network of the top 20 diseases related to Breast-Ovarian Cancer, Familial, 1:



Diseases related to breast-ovarian cancer, familial, 1

Symptoms & Phenotypes for Breast-Ovarian Cancer, Familial, 1

About this section

Symptoms by clinical synopsis from OMIM:

604370

Clinical features from OMIM:

604370

Human phenotypes related to Breast-Ovarian Cancer, Familial, 1:

 64
id Description HPO Frequency HPO Source Accession
1 breast carcinoma64 HP:0003002

GenomeRNAi Phenotypes related to Breast-Ovarian Cancer, Familial, 1 according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00151-A-29.8BRCA1, BRCA2
2GR00232-A-29.8BRCA1, BRCA2
3GR00101-A-49.8BRCA1, BRCA2
4GR00101-A-19.8BRCA1, BRCA2
5GR00250-A-39.3BRCA1, BRCA2, NBN
6GR00250-A-16.5BRCA1, BRCA2, NBN, BRCA1, BRCA2, NBN

MGI Mouse Phenotypes related to Breast-Ovarian Cancer, Familial, 1 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053809.3BRCA1, BRCA2, NBN
2MP:00020069.3BRCA1, BRCA2, NBN

Drugs & Therapeutics for Breast-Ovarian Cancer, Familial, 1

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Risk Education and Assessment for Cancer HeredityCompletedNCT01346761

Search NIH Clinical Center for Breast-Ovarian Cancer, Familial, 1

Genetic Tests for Breast-Ovarian Cancer, Familial, 1

About this section

Anatomical Context for Breast-Ovarian Cancer, Familial, 1

About this section

MalaCards organs/tissues related to Breast-Ovarian Cancer, Familial, 1:

36
Breast, Prostate, Ovary

Publications for Breast-Ovarian Cancer, Familial, 1

About this section

Variations for Breast-Ovarian Cancer, Familial, 1

About this section

UniProtKB/Swiss-Prot genetic disease variations for Breast-Ovarian Cancer, Familial, 1:

70
id Symbol AA change Variation ID SNP ID
1BRCA1p.Glu10LysVAR_020679
2BRCA1p.Glu23LysVAR_020680
3BRCA1p.Ser1187IleVAR_020690
4BRCA1p.Gln1200HisVAR_020691rs56214134
5BRCA1p.Ser1217TyrVAR_020695
6BRCA1p.Phe1226LeuVAR_020696
7BRCA1p.Arg1243GlyVAR_020697

Clinvar genetic disease variations for Breast-Ovarian Cancer, Familial, 1:

5 (show all 2,134)
id Gene Variation Type Significance SNP ID Assembly Location
1BRCA1undetermined variantPathogenicChr na, -1: -1
2BRCA1undetermined variantPathogenicChr na, -1: -1
3BRCA1undetermined variantPathogenicChr na, -1: -1
4BRCA1NM_007294.3(BRCA1): c.882delA (p.Asp295Thrfs)deletionPathogenicrs80357587GRCh38Chr 17, 43094649: 43094649
5BRCA1undetermined variantPathogenicChr na, -1: -1
6BRCA1NM_007294.3(BRCA1): c.902_903insT (p.Lys301Asnfs)insertionPathogenicrs80357726GRCh38Chr 17, 43094628: 43094629
7BRCA1NM_007294.3(BRCA1): c.984_985insC (p.Asn329Glnfs)insertionPathogenicrs80357775GRCh37Chr 17, 41246563: 41246564
8BRCA1NM_007294.3(BRCA1): c.1101_1102insC (p.Glu368Argfs)insertionPathogenicrs80357665GRCh37Chr 17, 41246446: 41246447
9BRCA1NM_007294.3(BRCA1): c.1129dupA (p.Ser377Lysfs)duplicationPathogenicrs80357776GRCh37Chr 17, 41246419: 41246419
10BRCA1NM_007294.3(BRCA1): c.19_47del29 (p.Arg7Cysfs)deletionPathogenicrs80359871GRCh37Chr 17, 41276067: 41276095
11BRCA1NM_007294.3(BRCA1): c.1356delA (p.Glu453Argfs)deletionPathogenicrs80357939GRCh37Chr 17, 41246192: 41246192
12BRCA1U14680.1: n.1506AtoGinsGinsertionPathogenicChr na, -1: -1
13BRCA1NM_007294.3(BRCA1): c.1392dupC (p.Tyr465Leufs)duplicationPathogenicrs80357592GRCh38Chr 17, 43094139: 43094139
14BRCA1NM_007294.3(BRCA1): c.1440_1441insA (p.Leu481Thrfs)insertionPathogenicrs80357778GRCh37Chr 17, 41246107: 41246108
15BRCA1NM_007294.3(BRCA1): c.1462dupA (p.Thr488Asnfs)duplicationPathogenicrs80357599GRCh38Chr 17, 43094069: 43094069
16BRCA1NM_007294.3(BRCA1): c.1518delG (p.Arg507Aspfs)deletionPathogenicrs80357947GRCh38Chr 17, 43094013: 43094013
17BRCA1NM_007294.3(BRCA1): c.1561_1562delGCinsTA (p.Ala521Ter)indelPathogenicrs273897663GRCh38Chr 17, 43093969: 43093970
18BRCA1NM_007294.3(BRCA1): c.1637_1685del49ins5indelPathogenicrs483353085GRCh37Chr 17, 41245863: 41245911
19BRCA1NM_007294.3(BRCA1): c.1695dupG (p.Lys566Glufs)duplicationPathogenicrs273897664GRCh37Chr 17, 41245853: 41245853
20BRCA1NM_007294.3(BRCA1): c.1700dupA (p.Asn567Lysfs)duplicationPathogenicrs80357784GRCh38Chr 17, 43093831: 43093831
21BRCA1NM_007294.3(BRCA1): c.70_71insA (p.Cys24Terfs)insertionPathogenicrs80357536GRCh38Chr 17, 43124026: 43124027
22BRCA1NM_007294.3(BRCA1): c.70_71insTGTC (p.Cys24Leufs)insertionPathogenicrs80357536GRCh37Chr 17, 41276043: 41276044
23BRCA1NM_007294.3(BRCA1): c.1812delA (p.Ala605Hisfs)deletionPathogenicrs80357927GRCh38Chr 17, 43093719: 43093719
24BRCA1NM_007294.3(BRCA1): c.80+1G> CSNVPathogenicrs80358010GRCh38Chr 17, 43124016: 43124016
25BRCA1NM_007294.3(BRCA1): c.80+1G> TSNVPathogenicrs80358010GRCh37Chr 17, 41276033: 41276033
26BRCA1NM_007294.3(BRCA1): c.80+2T> GSNVPathogenicrs80358128GRCh38Chr 17, 43124015: 43124015
27BRCA1NM_007294.3(BRCA1): c.80+5G> ASNVPathogenicrs80358045GRCh38Chr 17, 43124012: 43124012
28BRCA1NM_007294.3(BRCA1): c.1893_1894insT (p.Ser632Terfs)insertionPathogenicrs80357768GRCh38Chr 17, 43093637: 43093638
29BRCA1NM_007294.3(BRCA1): c.2038_2039insCC (p.Lys680Thrfs)insertionPathogenicrs80357940GRCh38Chr 17, 43093492: 43093493
30BRCA1NM_007294.3(BRCA1): c.2077_2078insTA (p.Asp693Valfs)insertionPathogenicrs80357595GRCh38Chr 17, 43093453: 43093454
31BRCA1NM_007294.3(BRCA1): c.2098_2099insA (p.Leu700Hisfs)insertionPathogenicrs483353086GRCh38Chr 17, 43093432: 43093433
32BRCA1U14680.1: n.2294delGdeletionPathogenicChr na, -1: -1
33BRCA1NM_007294.3(BRCA1): c.2188dupG (p.Glu730Glyfs)duplicationPathogenicrs80357566GRCh38Chr 17, 43093343: 43093343
34BRCA1NM_007294.3(BRCA1): c.2214delT (p.Val740Cysfs)deletionPathogenicrs80357574GRCh38Chr 17, 43093317: 43093317
35BRCA1NM_007294.3(BRCA1): c.2215_2216insCT (p.Lys739Thrfs)insertionPathogenicrs80357930GRCh38Chr 17, 43093315: 43093316
36BRCA1NM_007294.3(BRCA1): c.2217dupA (p.Val740Serfs)duplicationPathogenicrs80357802GRCh38Chr 17, 43093314: 43093314
37BRCA1NM_007294.3(BRCA1): c.2273dupT (p.Leu758Phefs)duplicationPathogenicrs80357681GRCh37Chr 17, 41245275: 41245275
38BRCA1NM_007294.3(BRCA1): c.2309C> T (p.Ser770Leu)SNVPathogenicrs80357063GRCh38Chr 17, 43093222: 43093222
39BRCA1NM_007294.3(BRCA1): c.2337_2338delTC (p.Gln780Glyfs)deletionPathogenicrs80357515GRCh37Chr 17, 41245210: 41245211
40BRCA1NM_007294.3(BRCA1): c.2355dupA (p.Leu786Thrfs)duplicationPathogenicrs80357990GRCh38Chr 17, 43093176: 43093176
41BRCA1U14680.1: n.2494delCdeletionPathogenicChr na, -1: -1
42BRCA1NM_007294.3(BRCA1): c.2376delG (p.Lys793Argfs)deletionPathogenicrs80357913GRCh38Chr 17, 43093155: 43093155
43BRCA1U14680.1: n.252_256del5insTinsertionPathogenicChr na, -1: -1
44BRCA1NM_007294.3(BRCA1): c.134+1G> CSNVPathogenicrs80358043GRCh38Chr 17, 43115725: 43115725
45BRCA1NM_007294.3(BRCA1): c.135-2A> GSNVLikely pathogenic, Pathogenicrs80358065GRCh38Chr 17, 43106535: 43106535
46BRCA1NM_007294.3(BRCA1): c.2438dupG (p.Leu814Thrfs)duplicationPathogenicrs80357503GRCh38Chr 17, 43093093: 43093093
47BRCA1NM_007294.3(BRCA1): c.139dupT (p.Cys47Leufs)duplicationPathogenicrs80357734GRCh38Chr 17, 43106529: 43106529
48BRCA1NM_007294.3(BRCA1): c.2474dupA (p.Asp825Glufs)duplicationPathogenicrs80357830GRCh37Chr 17, 41245074: 41245074
49BRCA1U14680.1: n.2607dupAAGTATCCATduplicationPathogenicChr na, -1: -1
50BRCA1NM_007294.3(BRCA1): c.2586_2593delGGTTTCAA (p.Val863Alafs)deletionPathogenicrs80357675GRCh38Chr 17, 43092938: 43092945
51BRCA1NM_007294.3(BRCA1): c.2658_2659insA (p.Ala887Serfs)insertionPathogenicrs80357541GRCh38Chr 17, 43092872: 43092873
52BRCA1NM_007294.3(BRCA1): c.2686delA (p.Ser896Valfs)deletionPathogenicrs273899687GRCh37Chr 17, 41244862: 41244862
53BRCA1NM_007294.3(BRCA1): c.171delG (p.Pro58Leufs)deletionPathogenicrs80357660GRCh38Chr 17, 43106497: 43106497
54BRCA1NM_007294.3(BRCA1): c.2799delT (p.Gln934Argfs)deletionPathogenicrs80357998GRCh37Chr 17, 41244749: 41244749
55BRCA1NM_007294.3(BRCA1): c.2868delT (p.Gln957Serfs)deletionPathogenicrs80357929GRCh37Chr 17, 41244680: 41244680
56BRCA1NM_007294.3(BRCA1): c.2871_2872insA (p.Phe958Ilefs)insertionPathogenicrs80357693GRCh38Chr 17, 43092659: 43092660
57BRCA1NM_007294.3(BRCA1): c.2889_2890delTG (p.Gly964Thrfs)deletionPathogenicrs80357890GRCh37Chr 17, 41244658: 41244659
58BRCA1NM_007294.3(BRCA1): c.2995_2996delCTinsTA (p.Leu999Ter)indelPathogenicrs273899692GRCh38Chr 17, 43092535: 43092536
59BRCA1NM_007294.3(BRCA1): c.3044dupG (p.Asn1016Lysfs)duplicationPathogenicrs80357746GRCh38Chr 17, 43092487: 43092487
60BRCA1NM_007294.3(BRCA1): c.3053_3054insTGAGA (p.Ile1019Glufs)insertionPathogenicrs80357547GRCh38Chr 17, 43092477: 43092478
61BRCA1NM_007294.3(BRCA1): c.204dupA (p.Thr69Asnfs)duplicationPathogenicrs273898673GRCh38Chr 17, 43106464: 43106464
62BRCA1NM_007294.3(BRCA1): c.3114_3117delAGCCinsGA (p.Ala1039Lysfs)indelPathogenicrs273899700GRCh37Chr 17, 41244431: 41244434
63BRCA1U14680.1: n.3235_3238delCAGCdeletionPathogenicChr na, -1: -1
64BRCA1NM_007294.3(BRCA1): c.3158_3159insG (p.Val1054Serfs)insertionPathogenicrs80357769GRCh37Chr 17, 41244389: 41244390
65U14680.1: n.331+1G> A,del22deletionPathogenicChr na, -1: -1
66BRCA1NM_007294.3(BRCA1): c.3194_3195insG (p.Asp1065Glufs)insertionPathogenicrs80357883GRCh38Chr 17, 43092336: 43092337
67BRCA1NM_007294.3(BRCA1): c.213-3C> GSNVPathogenicrs80358119GRCh38Chr 17, 43104959: 43104959
68BRCA1NM_007294.3(BRCA1): c.3256_3257insGA (p.Leu1086Terfs)insertionPathogenicrs80357764GRCh38Chr 17, 43092274: 43092275
69BRCA1NM_007294.3(BRCA1): c.3288_3289ins46 (p.?)insertionPathogenicrs483353088GRCh38Chr 17, 43092242: 43092243
70BRCA1NM_007294.3(BRCA1): c.3330_3331insA (p.Gln1111Thrfs)insertionPathogenicrs80357996GRCh38Chr 17, 43092200: 43092201
71BRCA1NM_007294.3(BRCA1): c.3351dupT (p.Gln1118Serfs)duplicationPathogenicrs80357785GRCh38Chr 17, 43092180: 43092180
72BRCA1NM_007294.3(BRCA1): c.3357delT (p.Val1120Leufs)deletionPathogenicrs80357827GRCh37Chr 17, 41244191: 41244191
73BRCA1NM_007294.3(BRCA1): c.3462dupA (p.Asp1155Argfs)duplicationPathogenicrs80357857GRCh38Chr 17, 43092069: 43092069
74BRCA1NM_007294.3(BRCA1): c.243delA (p.Gln81Hisfs)deletionPathogenicrs273899684GRCh38Chr 17, 43104926: 43104926
75BRCA1NM_007294.3(BRCA1): c.3516_3517ins100 (p.?)insertionPathogenicGRCh38Chr 17, 43092014: 43092015
76BRCA1NM_007294.3(BRCA1): c.3548_3549delAA (p.Lys1183Argfs)deletionPathogenicrs80357956GRCh38Chr 17, 43091982: 43091983
77BRCA1NM_007294.3(BRCA1): c.3571_3572ins4insertionPathogenicrs483353089GRCh38Chr 17, 43091959: 43091960
78BRCA1U14680.1: n.3702delAdeletionPathogenicChr na, -1: -1
79BRCA1NM_007294.3(BRCA1): c.3620dupA (p.Lys1208Glufs)duplicationPathogenicrs80357926GRCh38Chr 17, 43091911: 43091911
80BRCA1NM_007294.3(BRCA1): c.3649_3650insA (p.Ser1217Tyrfs)insertionPathogenicrs80357831GRCh38Chr 17, 43091881: 43091882
81BRCA1NM_007294.3(BRCA1): c.3766dupA (p.Thr1256Asnfs)duplicationPathogenicrs80357704GRCh38Chr 17, 43091765: 43091765
82BRCA1NM_007294.3(BRCA1): c.3771_3772delGG (p.Asn1259Phefs)deletionPathogenicrs80357810GRCh37Chr 17, 41243776: 41243777
83BRCA1NM_007294.3(BRCA1): c.3778_3779insA (p.Leu1260Tyrfs)insertionPathogenicrs80357849GRCh38Chr 17, 43091752: 43091753
84BRCA1NM_007294.3(BRCA1): c.3830dupC (p.Ala1279Glyfs)duplicationPathogenicrs80357878GRCh38Chr 17, 43091701: 43091701
85BRCA1NM_007294.3(BRCA1): c.3867_3871delAAAAT (p.Lys1290Phefs)deletionPathogenicrs80357560GRCh37Chr 17, 41243677: 41243681
86BRCA1NM_007294.3(BRCA1): c.3908dupT (p.Leu1303Phefs)duplicationPathogenicrs80357634GRCh38Chr 17, 43091623: 43091623
87BRCA1NM_007294.3(BRCA1): c.288_292delCACAGins7indelPathogenicrs483353091GRCh37Chr 17, 41256894: 41256898
88BRCA1NM_007294.3(BRCA1): c.4050_4051insG (p.Leu1351Valfs)insertionPathogenicrs483353092GRCh38Chr 17, 43091480: 43091481
89BRCA1NM_007294.3(BRCA1): c.301+2_301+3insTinsertionPathogenicrs273899694GRCh37Chr 17, 41256882: 41256883
90BRCA1NM_007294.3(BRCA1): c.302-1G> TSNVPathogenicrs80358116GRCh38Chr 17, 43104262: 43104262
91BRCA1NM_007294.3(BRCA1): c.302-2A> TSNVPathogenicrs80358011GRCh38Chr 17, 43104263: 43104263
92BRCA1NM_007294.3(BRCA1): c.302-2_302-1deldeletionPathogenicrs483353093GRCh37Chr 17, 41256279: 41256280
93BRCA1NM_007294.3(BRCA1): c.4110_4111delTG (p.Gly1371Valfs)deletionPathogenicrs80357529GRCh37Chr 17, 41243035: 41243036
94BRCA1NM_007294.3(BRCA1): c.4111_4112insATCT (p.Gly1371Aspfs)insertionPathogenicrs80357935GRCh38Chr 17, 43091017: 43091018
95BRCA1NM_007294.3(BRCA1): c.4113delG (p.Cys1372Valfs)deletionPathogenicrs80357861GRCh38Chr 17, 43091016: 43091016
96BRCA1NM_007294.3(BRCA1): c.4128_4129delAA (p.Ser1377Argfs)deletionPathogenicrs80357921GRCh38Chr 17, 43091000: 43091001
97BRCA1NM_007294.3(BRCA1): c.4163dupA (p.Ser1389Glufs)duplicationPathogenicrs80357788GRCh38Chr 17, 43090966: 43090966
98BRCA1NM_007294.3(BRCA1): c.4167_4168insAG (p.Asp1390Argfs)insertionPathogenicrs80357847GRCh37Chr 17, 41242978: 41242979
99BRCA1U14680.1: n.4305-1643_del3835deletionPathogenicChr na, -1: -1
100BRCA1NM_007294.3(BRCA1): c.4214delT (p.Ile1405Lysfs)deletionPathogenicrs273900728GRCh38Chr 17, 43082547: 43082547
101BRCA1NM_007294.3(BRCA1): c.4285_4286insG (p.Tyr1429Terfs)insertionPathogenicrs80357716GRCh38Chr 17, 43082475: 43082476
102BRCA1NM_007294.3(BRCA1): c.4289dupC (p.Ser1431Phefs)duplicationPathogenicrs80357556GRCh38Chr 17, 43082472: 43082472
103BRCA1NM_007294.3(BRCA1): c.4338_4339ins4insertionPathogenicrs397509164GRCh38Chr 17, 43082422: 43082423
104BRCA1NM_007294.3(BRCA1): c.4463dupA (p.Asn1488Lysfs)duplicationPathogenicrs80357620GRCh38Chr 17, 43076509: 43076509
105BRCA1NM_007294.3(BRCA1): c.4644_4645ins8insertionPathogenicrs483353094GRCh38Chr 17, 43074361: 43074362
106BRCA1NM_007294.3(BRCA1): c.4675+3A> TSNVPathogenicrs80358082GRCh38Chr 17, 43074328: 43074328
107BRCA1NM_007294.3(BRCA1): c.4676-1G> ASNVLikely pathogenic, Pathogenicrs80358008GRCh38Chr 17, 43071239: 43071239
108BRCA1NM_007294.3(BRCA1): c.4676-2A> GSNVLikely pathogenic, Pathogenicrs80358096GRCh37Chr 17, 41223257: 41223257
109BRCA1NM_007294.3(BRCA1): c.4696_4697insA (p.Ser1566Tyrfs)insertionPathogenicrs483353095GRCh37Chr 17, 41223234: 41223235
110BRCA1NM_007294.3(BRCA1): c.4764_4765delTC (p.Arg1589Cysfs)deletionPathogenicrs80357795GRCh37Chr 17, 41223166: 41223167
111BRCA1NM_007294.3(BRCA1): c.4843dupG (p.Ala1615Glyfs)duplicationPathogenicrs80357615GRCh38Chr 17, 43071071: 43071071
112BRCA1NM_007294.3(BRCA1): c.4891dupA (p.Ser1631Lysfs)duplicationPathogenicrs80357656GRCh37Chr 17, 41223040: 41223040
113BRCA1NM_007294.3(BRCA1): c.4944_4945delAA (p.Arg1649Asnfs)deletionPathogenicrs80357655GRCh38Chr 17, 43070969: 43070970
114BRCA1NM_007294.3(BRCA1): c.4986+1G> ASNVPathogenicrs80358162GRCh38Chr 17, 43070927: 43070927
115BRCA1U14680.1: n.5106-1A> GSNVPathogenicChr na, -1: -1
116BRCA1NM_007294.3(BRCA1): c.5007_5008ins13 (p.?)insertionPathogenicrs483353097GRCh37Chr 17, 41219691: 41219692
117BRCA1NM_007294.3(BRCA1): c.5033_5034ins4insertionPathogenicrs483353098GRCh38Chr 17, 43067648: 43067649
118BRCA1NM_007294.3(BRCA1): c.5056dupC (p.His1686Profs)duplicationPathogenicrs80357974GRCh38Chr 17, 43067626: 43067626
119BRCA1NM_007294.3(BRCA1): c.5075-1G> CSNVPathogenicrs1800747GRCh37Chr 17, 41215969: 41215969
120BRCA1NM_007294.3(BRCA1): c.5098delA (p.Thr1700Hisfs)deletionPathogenicrs483353099GRCh38Chr 17, 43063928: 43063928
121BRCA1NM_007294.3(BRCA1): c.5145delC (p.Tyr1716Ilefs)deletionPathogenicrs80357870GRCh38Chr 17, 43063881: 43063881
122BRCA1NM_007294.3(BRCA1): c.5152+1G> ASNVPathogenicrs80358094GRCh37Chr 17, 41215890: 41215890
123BRCA1NM_007294.3(BRCA1): c.5152+3_5152+4insTinsertionPathogenicrs273901744GRCh37Chr 17, 41215887: 41215888
124BRCA1U14680.1: n.5312+3_del13deletionPathogenicChr na, -1: -1
125BRCA1NM_007294.3(BRCA1): c.5194-1G> ASNVPathogenicrs80358173GRCh37Chr 17, 41209153: 41209153
126BRCA1NM_007294.3(BRCA1): c.5241delA (p.Gly1748Valfs)deletionPathogenicrs80357791GRCh38Chr 17, 43057088: 43057088
127BRCA1U14680.1: n.5389_5395delCAGAAAGdeletionPathogenicChr na, -1: -1
128BRCA1U14680.1: n.5396+1_del6deletionPathogenicChr na, -1: -1
129BRCA1NM_007294.3(BRCA1): c.5304delC (p.Tyr1769Metfs)deletionPathogenicrs80357959GRCh38Chr 17, 43051091: 43051091
130BRCA1U14680.1: n.5430_5452del23deletionPathogenicChr na, -1: -1
131BRCA1NM_007294.3(BRCA1): c.5332+2T> ASNVPathogenicrs80358182GRCh37Chr 17, 41203078: 41203078
132BRCA1NM_007294.3(BRCA1): c.5332+4A> GSNVPathogenicrs80358166GRCh38Chr 17, 43051059: 43051059
133BRCA1U14680.1: n.5452-36_del510deletionPathogenicChr na, -1: -1
134BRCA1NM_007294.3(BRCA1): c.5352dupA (p.Gln1785Thrfs)duplicationPathogenicrs80357744GRCh38Chr 17, 43049175: 43049175
135BRCA1NM_007294.3(BRCA1): c.5370_5397del28 (p.Val1791Leufs)deletionPathogenicrs80359878GRCh38Chr 17, 43049130: 43049157
136BRCA1NM_007294.3(BRCA1): c.5406+2deldeletionPathogenicrs273901765GRCh38Chr 17, 43049119: 43049119
137BRCA1NM_007294.3(BRCA1): c.5407-1G> ASNVPathogenicrs80358029GRCh38Chr 17, 43047704: 43047704
138BRCA1NM_007294.3(BRCA1): c.5407-1G> CSNVPathogenicrs80358029GRCh38Chr 17, 43047704: 43047704
139BRCA1NM_007294.3(BRCA1): c.5407-2A> TSNVPathogenicrs80358002GRCh38Chr 17, 43047705: 43047705
140BRCA1NM_007294.3(BRCA1): c.5464_5465insT (p.His1822Leufs)insertionPathogenicrs273902769GRCh38Chr 17, 43047645: 43047646
141BRCA1NM_007294.3(BRCA1): c.5467+2T> CSNVLikely pathogenic, Pathogenicrs80358009GRCh38Chr 17, 43047641: 43047641
142BRCA1NM_007294.3(BRCA1): c.5467+2T> GSNVPathogenicrs80358009GRCh38Chr 17, 43047641: 43047641
143BRCA1NM_007294.3(BRCA1): c.5468-1G> ASNVPathogenicrs80358048GRCh37Chr 17, 41197820: 41197820
144BRCA1NM_007294.3(BRCA1): c.5468-40T> ASNVPathogenicrs80358151GRCh38Chr 17, 43045842: 43045842
145BRCA1NM_007294.3(BRCA1): c.5490delA (p.Pro1831Leufs)deletionPathogenicrs80357976GRCh37Chr 17, 41197797: 41197797
146BRCA1NM_007294.3(BRCA1): c.442-2A> CSNVPathogenicrs80358155GRCh37Chr 17, 41251899: 41251899
147BRCA1NM_007294.3(BRCA1): c.5498_5511delTGACCCGAGAGTGG (p.Val1833Glyfs)deletionPathogenicrs80359873GRCh38Chr 17, 43045759: 43045772
148BRCA1L824XSNVPathogenicChr na, -1: -1
149BRCA1NM_007294.3(BRCA1): c.5534_5539delACCAGTins20 (p.?)indelPathogenicrs483353102GRCh37Chr 17, 41197748: 41197753
150BRCA1NM_007294.3(BRCA1): c.5563delAins6indelPathogenicrs483353103GRCh38Chr 17, 43045707: 43045707
151BRCA1NM_007294.3(BRCA1): c.456_457delCA (p.Ser153Cysfs)deletionPathogenicrs80357882GRCh38Chr 17, 43099865: 43099866
152BRCA1NM_007294.3(BRCA1): c.547+1G> ASNVPathogenicrs80358030GRCh38Chr 17, 43099774: 43099774
153BRCA1NM_007294.3(BRCA1): c.625_626ins20 (p.?)insertionPathogenicrs483353106GRCh37Chr 17, 41247907: 41247908
154BRCA1NM_007294.3(BRCA1): c.668dupA (p.Ala224Glyfs)duplicationPathogenicrs80357537GRCh38Chr 17, 43095848: 43095848
155BRCA1NM_007294.3(BRCA1): c.671-1G> TSNVLikely pathogenic, Pathogenicrs80358020GRCh38Chr 17, 43094861: 43094861
156BRCA1NM_007294.3(BRCA1): c.807_808ins11 (p.?)insertionPathogenicrs483353107GRCh38Chr 17, 43094723: 43094724
157BRCA1NM_007294.3(BRCA1): c.833_834insA (p.His279Serfs)insertionPathogenicrs483353108GRCh38Chr 17, 43094697: 43094698
158BRCA1NM_007294.3(BRCA1): c.851_852ins7insertionPathogenicrs483353109GRCh37Chr 17, 41246696: 41246697
159BRCA1NM_007294.3(BRCA1): c.2506delG (p.Glu836Lysfs)deletionPathogenicrs587780798GRCh37Chr 17, 41245042: 41245042
160BRCA1NM_007294.3(BRCA1): c.3874delT (p.Ser1292Leufs)deletionPathogenicrs587780802GRCh37Chr 17, 41243674: 41243674
161BRCA1NM_007294.3(BRCA1): c.5205delA (p.Val1736Serfs)deletionPathogenicrs587781258GRCh37Chr 17, 41209141: 41209141
162BRCA1NM_007294.3(BRCA1): c.2621delA (p.Asn874Ilefs)deletionPathogenicrs587781423GRCh38Chr 17, 43092910: 43092910
163BRCA1NM_007294.3(BRCA1): c.485dupT (p.Arg163Glufs)duplicationPathogenicrs587781427GRCh38Chr 17, 43099837: 43099837
164BRCA1NM_007294.3(BRCA1): c.512dupT (p.Gln172Thrfs)duplicationPathogenicrs587781487GRCh38Chr 17, 43099810: 43099810
165BRCA1NM_007294.3(BRCA1): c.4401delG (p.Asn1468Ilefs)deletionPathogenicrs587781611GRCh37Chr 17, 41228588: 41228588
166BRCA2NM_000059.3(BRCA2): c.1909+1G> ASNVLikely pathogenic, Pathogenicrs587781629GRCh37Chr 13, 32907525: 32907525
167BRCA1NM_007294.3(BRCA1): c.192T> A (p.Cys64Ter)SNVPathogenicrs587781632GRCh37Chr 17, 41258493: 41258493
168BRCA2NM_000059.3(BRCA2): c.6816_6820delAAGAG (p.Gly2274Alafs)deletionPathogenicrs587781803GRCh37Chr 13, 32915308: 32915312
169BRCA1NM_007294.3(BRCA1): c.5310_5311delGC (p.Pro1771Leufs)deletionPathogenicrs587781825GRCh37Chr 17, 41203101: 41203102
170BRCA1NM_007294.3(BRCA1): c.4655dupA (p.Tyr1552Terfs)duplicationPathogenicrs587782143GRCh37Chr 17, 41226368: 41226368
171BRCA1NM_007294.3(BRCA1): c.301+1G> ASNVLikely pathogenic, Pathogenicrs587782173GRCh38Chr 17, 43104867: 43104867
172BRCA1NM_007294.3(BRCA1): c.1488delT (p.Leu498Serfs)deletionPathogenicrs587782251GRCh37Chr 17, 41246060: 41246060
173BRCA1NM_007294.3(BRCA1): c.4799dupT (p.Leu1600Phefs)duplicationPathogenicrs587782392GRCh37Chr 17, 41223132: 41223132
174BRCA1NM_007294.3(BRCA1): c.2593A> T (p.Lys865Ter)SNVPathogenicrs587782628GRCh37Chr 17, 41244955: 41244955
175BRCA1NM_007294.3(BRCA1): c.335_338delATAA (p.Asn112Thrfs)deletionPathogenicrs587782666GRCh38Chr 17, 43104225: 43104228
176BRCA1NM_007294.3(BRCA1): c.2056G> T (p.Glu686Ter)SNVPathogenicrs587782709GRCh38Chr 17, 43093475: 43093475
177BRCA1NM_007294.3(BRCA1): c.4389C> G (p.Tyr1463Ter)SNVPathogenicrs80356997GRCh38Chr 17, 43076583: 43076583
178BRCA1NM_007294.3(BRCA1): c.3969_3970delAA (p.Gln1323Hisfs)deletionPathogenicrs587782834GRCh38Chr 17, 43091561: 43091562
179BRCA1NM_007294.3(BRCA1): c.4250delT (p.Val1417Glyfs)deletionPathogenicrs587782879GRCh38Chr 17, 43082511: 43082511
180BRCA1NM_007294.3(BRCA1): c.1612_1616delCAAAC (p.Gln538Glyfs)deletionPathogenicrs587776480GRCh38Chr 17, 43093915: 43093919
181BRCA1NM_007294.3(BRCA1): c.273_274delTG (p.Ala92Phefs)deletionPathogenicrs587776485GRCh38Chr 17, 43104895: 43104896
182BRCA1NM_007294.3(BRCA1): c.4468G> T (p.Glu1490Ter)SNVPathogenicrs138608489GRCh37Chr 17, 41228521: 41228521
183BRCA1NM_007294.3(BRCA1): c.181T> G (p.Cys61Gly)SNVPathogenicrs28897672GRCh37Chr 17, 41258504: 41258504
184BRCA1NM_007294.3(BRCA1): c.68_69delAG (p.Glu23Valfs)deletionPathogenicrs386833395GRCh37Chr 17, 41276047: 41276048
185BRCA1BRCA1, 59-BP INSinsertionPathogenicChr na, -1: -1
186BRCA1NM_007294.3(BRCA1): c.1175_1214del40 (p.Leu392Glnfs)deletionPathogenicrs80359874GRCh37Chr 17, 41246334: 41246373
187BRCA1NM_007294.3(BRCA1): c.2296_2297delAG (p.Ser766Terfs)deletionPathogenicrs80357780GRCh37Chr 17, 41245251: 41245252
188BRCA1NM_007294.3(BRCA1): c.2681_2682delAA (p.Lys894Thrfs)deletionPathogenicrs80357971GRCh37Chr 17, 41244866: 41244867
189BRCA1NM_007294.3(BRCA1): c.3005delA (p.Asn1002Thrfs)deletionPathogenicrs80357601GRCh38Chr 17, 43092526: 43092526
190BRCA1NM_007294.3(BRCA1): c.3607C> T (p.Arg1203Ter)SNVPathogenicrs62625308GRCh37Chr 17, 41243941: 41243941
191BRCA1NM_007294.3(BRCA1): c.3748G> T (p.Glu1250Ter)SNVPathogenicrs28897686GRCh37Chr 17, 41243800: 41243800
192BRCA1NM_007294.3(BRCA1): c.3756_3759delGTCT (p.Ser1253Argfs)deletionPathogenicrs80357868GRCh37Chr 17, 41243789: 41243792
193BRCA1NM_007294.3(BRCA1): c.4065_4068delTCAA (p.Asn1355Lysfs)deletionPathogenicrs80357508GRCh37Chr 17, 41243480: 41243483
194BRCA1NM_007294.3(BRCA1): c.4327C> T (p.Arg1443Ter)SNVPathogenicrs41293455GRCh37Chr 17, 41234451: 41234451
195BRCA1NM_007294.3(BRCA1): c.5266dupC (p.Gln1756Profs)duplicationPathogenicrs80357906GRCh37Chr 17, 41209082: 41209082
196BRCA1NM_007294.3(BRCA1): c.4966_4984del19 (p.Gly1656Leufs)deletionPathogenicrs80359884GRCh37Chr 17, 41222947: 41222965
197BRCA1NM_007294.3(BRCA1): c.2389G> T (p.Glu797Ter)SNVPathogenicrs62625306GRCh37Chr 17, 41245159: 41245159
198BRCA1NM_007294.3(BRCA1): c.843_846delCTCA (p.Ser282Tyrfs)deletionPathogenicrs80357919GRCh37Chr 17, 41246702: 41246705
199BRCA1NM_007294.3(BRCA1): c.3481_3491delGAAGATACTAG (p.Glu1161Phefs)deletionPathogenicrs80357877GRCh37Chr 17, 41244057: 41244067
200BRCA1NM_007294.3(BRCA1): c.1556delA (p.Lys519Argfs)deletionPathogenicrs80357662GRCh37Chr 17, 41245992: 41245992
201BRCA1BRCA1, 1-BP DEL, 4153AdeletionPathogenicChr na, -1: -1
202BRCA1BRCA1, 6-KB DUP, EX13insertionPathogenicChr na, -1: -1
203BRCA1NM_007294.3(BRCA1): c.211A> G (p.Arg71Gly)SNVLikely pathogenic, Pathogenicrs80357382GRCh37Chr 17, 41258474: 41258474
204BRCA1NM_007294.3(BRCA1): c.5324T> G (p.Met1775Arg)SNVPathogenicrs41293463GRCh37Chr 17, 41203088: 41203088
205BRCA1NM_007294.3(BRCA1): c.5324T> A (p.Met1775Lys)SNVPathogenicrs41293463GRCh37Chr 17, 41203088: 41203088
206BRCA1NM_007294.3(BRCA1): c.4837_4838delAGinsGCC (p.Ser1613Alafs)indelPathogenicrs730880287GRCh38Chr 17, 43071076: 43071077
207BRCA1NM_007294.3(BRCA1): c.5133delA (p.Lys1711Asnfs)deletionPathogenicrs730880288GRCh38Chr 17, 43063893: 43063893
208BRCA1NM_007294.3(BRCA1): c.2938delA (p.Ile980Tyrfs)deletionPathogenicrs730881439GRCh38Chr 17, 43092593: 43092593
209BRCA1NM_007294.3(BRCA1): c.3767_3768delCA (p.Thr1256Argfs)deletionPathogenicrs730881440GRCh37Chr 17, 41243780: 41243781
210BRCA1NM_007294.3(BRCA1): c.5474_5481delGGCAGATG (p.Gly1825Valfs)deletionPathogenicrs730881441GRCh38Chr 17, 43045789: 43045796
211BRCA1NM_007294.3(BRCA1): c.45delT (p.Asn16Metfs)deletionPathogenicrs730881457GRCh38Chr 17, 43124052: 43124052
212BRCA1NM_007294.3(BRCA1): c.1340_1341delTT (p.Val447Alafs)deletionPathogenicrs730881458GRCh37Chr 17, 41246207: 41246208
213BRCA1NM_007294.3(BRCA1): c.1860delT (p.His621Metfs)deletionPathogenicrs730881459GRCh38Chr 17, 43093671: 43093671
214BRCA1NM_007294.3(BRCA1): c.2945delC (p.Pro982Hisfs)deletionPathogenicrs730881461GRCh38Chr 17, 43092586: 43092586
215BRCA1NM_007294.3(BRCA1): c.3129_3138delTATTAATGAA (p.Asn1043Lysfs)deletionPathogenicrs730881462GRCh38Chr 17, 43092393: 43092402
216BRCA1NM_007294.3(BRCA1): c.869T> G (p.Leu290Ter)SNVPathogenicrs730881468GRCh38Chr 17, 43094662: 43094662
217BRCA1NM_007294.3(BRCA1): c.1714G> T (p.Glu572Ter)SNVPathogenicrs730881473GRCh38Chr 17, 43093817: 43093817
218BRCA1NM_007294.3(BRCA1): c.4987-1G> ASNVPathogenicrs730881495GRCh38Chr 17, 43067696: 43067696
219BRCA1NM_007294.3(BRCA1): c.3511A> T (p.Lys1171Ter)SNVPathogenicrs730882164GRCh37Chr 17, 41244037: 41244037
220BRCA1NM_007294.3(BRCA1): c.4998C> A (p.Tyr1666Ter)SNVPathogenicrs730882165GRCh37Chr 17, 41219701: 41219701
221BRCA1NM_007294.3(BRCA1): c.5057A> G (p.His1686Arg)SNVPathogenicrs730882166GRCh37Chr 17, 41219642: 41219642
222BRCA1NM_007294.3(BRCA1): c.5167delAinsTTT (p.Ile1723Phefs)indelPathogenicrs730882167GRCh37Chr 17, 41215376: 41215376
223BRCA1NM_007294.3(BRCA1): c.5194-?_5277+?deldeletionPathogenicChr na, -1: -1
224BRCA1NM_007294.3(BRCA1): c.5269_5273delGACAG (p.Asp1757Lysfs)deletionPathogenicrs786202040GRCh38Chr 17, 43057056: 43057060
225BRCA1NM_007294.3(BRCA1): c.4834C> T (p.Gln1612Ter)SNVPathogenicrs786202064GRCh37Chr 17, 41223097: 41223097
226BRCA1NM_007294.3(BRCA1): c.212G> T (p.Arg71Met)SNVLikely pathogenic, Pathogenicrs80356913GRCh37Chr 17, 41258473: 41258473
227BRCA1NM_007294.3(BRCA1): c.5153-2A> GSNVLikely pathogenic, Pathogenicrs786202545GRCh37Chr 17, 41215392: 41215392
228BRCA1NM_007294.3(BRCA1): c.4523G> A (p.Trp1508Ter)SNVPathogenicrs786202631GRCh37Chr 17, 41226500: 41226500
229BRCA1NM_007294.3(BRCA1): c.2398_2401delAAAT (p.Lys800Valfs)deletionPathogenicrs786202684GRCh37Chr 17, 41245147: 41245150
230BRCA1NM_007294.3(BRCA1): c.3323_3324delTA (p.Ile1108Lysfs)deletionPathogenicrs786202791GRCh37Chr 17, 41244224: 41244225
231BRCA1NM_007294.3(BRCA1): c.3066delA (p.Val1023Terfs)deletionPathogenicrs786202906GRCh37Chr 17, 41244482: 41244482
232BRCA1NM_007294.3(BRCA1): c.2407_2408delAG (p.Gln804Valfs)deletionPathogenicrs786202919GRCh37Chr 17, 41245140: 41245141
233BRCA1NM_007294.3(BRCA1): c.3658delG (p.Asp1220Metfs)deletionPathogenicrs786202963GRCh37Chr 17, 41243890: 41243890
234BRCA1NM_007294.3(BRCA1): c.4099G> T (p.Glu1367Ter)SNVPathogenicrs786202998GRCh37Chr 17, 41243047: 41243047
235BRCA1NM_007294.3(BRCA1): c.1256dupT (p.Asp420Argfs)duplicationPathogenicrs786203103GRCh37Chr 17, 41246292: 41246292
236BRCA1NM_007294.3(BRCA1): c.4379delG (p.Ser1460Ilefs)deletionPathogenicrs786203149GRCh37Chr 17, 41228610: 41228610
237BRCA1NM_007294.3(BRCA1): c.2214dupT (p.Lys739Terfs)duplicationPathogenicrs397507197GRCh37Chr 17, 41245334: 41245334
238BRCA1NM_007294.3(BRCA1): c.416dupA (p.Ser140Glufs)duplicationPathogenicrs786203432GRCh37Chr 17, 41256164: 41256164
239BRCA1NM_007294.3(BRCA1): c.3481G> T (p.Glu1161Ter)SNVPathogenicrs786203438GRCh37Chr 17, 41244067: 41244067
240BRCA1NM_007294.3(BRCA1): c.3157G> T (p.Glu1053Ter)SNVPathogenicrs786203587GRCh37Chr 17, 41244391: 41244391
241BRCA1NM_007294.3(BRCA1): c.2654dupT (p.Ser886Leufs)duplicationPathogenicrs786203592GRCh37Chr 17, 41244894: 41244894
242BRCA1NM_007294.3(BRCA1): c.1964delA (p.Tyr655Serfs)deletionPathogenicrs786203594GRCh37Chr 17, 41245584: 41245584
243BRCA1NM_007294.3(BRCA1): c.5359_5363delTGTGGinsAGTGA (p.Cys1787_Gly1788delinsSerAsp)indelPathogenicrs786203663GRCh37Chr 17, 41201181: 41201185
244BRCA1NM_007294.3(BRCA1): c.3478_3487delAAGGAAGATA (p.Lys1160Leufs)deletionPathogenicrs786203694GRCh37Chr 17, 41244061: 41244070
245BRCA1NM_007294.3(BRCA1): c.5027T> G (p.Leu1676Ter)SNVPathogenicrs786203754GRCh37Chr 17, 41219672: 41219672
246BRCA1NM_007294.3(BRCA1): c.3626T> G (p.Leu1209Ter)SNVPathogenicrs786203884GRCh37Chr 17, 41243922: 41243922
247BRCA1NM_007294.3(BRCA1): c.1477delA (p.Ile493Tyrfs)deletionPathogenicrs786203982GRCh37Chr 17, 41246071: 41246071
248BRCA1NM_007294.3(BRCA1): c.4186-?_4357+?dupduplicationPathogenicChr na, -1: -1
249BRCA1NM_007294.3(BRCA1): c.5278-?_5467+?deldeletionPathogenicChr na, -1: -1
250BRCA1NM_007294.3(BRCA1): c.1240dupG (p.Asp414Glyfs)duplicationPathogenicrs786204260GRCh37Chr 17, 41246308: 41246308
251BRCA1NM_007294.3(BRCA1): c.885_886delCA (p.Asp295Glufs)deletionPathogenicrs786204261GRCh37Chr 17, 41246662: 41246663
252BRCA1NM_007294.3(BRCA1): c.892_895dupAATG (p.Val299Glufs)duplicationPathogenicrs80357806GRCh37Chr 17, 41246653: 41246656
253BRCA1NM_007294.3(BRCA1): c.984_988delTAATG (p.Cys328Terfs)deletionPathogenicrs786204262GRCh37Chr 17, 41246560: 41246564
254BRCA1NM_007294.3(BRCA1): c.2298dupT (p.Ser767Terfs)duplicationPathogenicrs786204264GRCh38Chr 17, 43093233: 43093233
255BRCA1NM_007294.3(BRCA1): c.4386dupA (p.Tyr1463Ilefs)duplicationPathogenicrs786204267GRCh38Chr 17, 43076586: 43076586
256BRCA1NM_007294.3(BRCA1): c.5543_5545delAGGins43 (p.?)indelLikely pathogenicrs786204270GRCh38Chr 17, 43045725: 43045727
257BRCA1NM_007294.3(BRCA1)insertionPathogenicrs797044631GRCh37Chr 17, 41243800: 41243801
258BRCA1NM_007294.3(BRCA1): c.594_597delTGTG (p.Ser198Argfs)deletionPathogenicrs797045175GRCh38Chr 17, 43095919: 43095922
259BRCA1NM_007294.3(BRCA1): c.4987-?_5193+?deldeletionLikely pathogenic, PathogenicChr na, -1: -1
260BRCA1NM_007294.3(BRCA1): c.2043dupT (p.Asn682Terfs)duplicationPathogenicrs863224510GRCh37Chr 17, 41245505: 41245505
261BRCA1NM_007294.3(BRCA1): c.4186-?_5193+?deldeletionPathogenicChr na, -1: -1
262BRCA1NM_007294.3(BRCA1): c.4358-?_4484+?deldeletionPathogenicChr na, -1: -1
263BRCA1NM_007294.3(BRCA1): c.4474G> T (p.Gly1492Ter)SNVPathogenicrs863224511GRCh38Chr 17, 43076498: 43076498
264BRCA1NM_007294.3(BRCA1): c.4676-?_5074+?deldeletionPathogenicChr na, -1: -1
265BRCA1NM_007294.3(BRCA1): c.490delA (p.Thr164Leufs)deletionPathogenicrs863224512GRCh37Chr 17, 41251849: 41251849
266BRCA1NM_007294.3(BRCA1): c.4709dupT (p.Phe1571Leufs)duplicationPathogenicrs864622132GRCh37Chr 17, 41223222: 41223222
267BRCA1NM_007294.3(BRCA1): c.5525delT (p.Val1842Glufs)deletionPathogenicrs864622220GRCh38Chr 17, 43045745: 43045745
268BRCA1NM_007294.3(BRCA1): c.548-?_4185+?deldeletionPathogenicChr na, -1: -1
269BRCA1NM_007294.3(BRCA1): c.531dupT (p.Val178Cysfs)duplicationPathogenicrs864622350GRCh37Chr 17, 41251808: 41251808
270BRCA1NM_007294.3(BRCA1): c.135-?_441+?dupduplicationLikely pathogenic, PathogenicChr na, -1: -1
271BRCA1NM_007294.3(BRCA1): c.2378dupA (p.Ala794Glyfs)duplicationPathogenicrs864622536GRCh37Chr 17, 41245170: 41245170
272BRCA1NM_007294.3(BRCA1): c.4647_4648dupAA (p.Thr1550Lysfs)duplicationPathogenicrs869025213GRCh37Chr 17, 41226375: 41226376
273BRCA1NM_007294.3(BRCA1): c.213-2A> GSNVPathogenicrs397508940GRCh37Chr 17, 41256975: 41256975
274BRCA1NM_007294.3(BRCA1): c.192T> G (p.Cys64Trp)SNVLikely pathogenic, Pathogenicrs587781632GRCh37Chr 17, 41258493: 41258493
275BRCA2NM_000059.3(BRCA2): c.3689_3690delCT (p.Ser1230Tyrfs)deletionPathogenicrs869312759GRCh37Chr 13, 32912181: 32912182
276BRCA2NM_000059.3(BRCA2): c.8419_8428delTCGCTTTTCA (p.Ser2807Valfs)deletionPathogenicrs869312760GRCh37Chr 13, 32944626: 32944635
277BRCA1NM_007294.3(BRCA1): c.81-?_134+?deldeletionPathogenicChr na, -1: -1
278BRCA1NM_007294.3(BRCA1): c.3629dupA (p.Ser1211Valfs)duplicationPathogenicrs886040154GRCh37Chr 17, 41243919: 41243919
279BRCA1NM_007294.3(BRCA1): c.1600delC (p.Gln534Argfs)deletionPathogenicrs869320776GRCh38Chr 17, 43093931: 43093931
280BRCA1NM_007294.3(BRCA1): c.886delA (p.Arg296Glufs)deletionPathogenicrs869320786GRCh37Chr 17, 41246662: 41246662
281BRCA1NM_007294.3(BRCA1): c.132C> T (p.Cys44=)SNVPathogenicrs876658362GRCh37Chr 17, 41267745: 41267745
282BRCA1NM_007294.3(BRCA1): c.2719G> T (p.Glu907Ter)SNVPathogenicrs876658593GRCh37Chr 17, 41244829: 41244829
283BRCA1NM_007294.3(BRCA1): c.5135G> A (p.Trp1712Ter)SNVPathogenicrs876658672GRCh37Chr 17, 41215908: 41215908
284BRCA1NM_007294.3(BRCA1): c.1505_1509delTAAAG (p.Leu502Serfs)deletionPathogenicrs876659139GRCh37Chr 17, 41246039: 41246043
285BRCA1NM_007294.3(BRCA1): c.442C> T (p.Gln148Ter)SNVLikely pathogenic, Pathogenicrs876659614GRCh37Chr 17, 41251897: 41251897
286BRCA1NM_007294.3(BRCA1): c.3289dupA (p.Ser1097Lysfs)duplicationPathogenicrs876660194GRCh37Chr 17, 41244259: 41244259
287BRCA1NM_007294.3(BRCA1): c.2386_2387delACinsT (p.Thr796Terfs)indelPathogenicrs876660305GRCh37Chr 17, 41245161: 41245162
288BRCA1NM_007294.3(BRCA1): c.1155G> A (p.Trp385Ter)SNVPathogenicrs876660558GRCh37Chr 17, 41246393: 41246393
289BRCA1NM_007294.3(BRCA1): c.441+2T> GSNVPathogenicrs397509173GRCh37Chr 17, 41256137: 41256137
290BRCA1NM_007294.3(BRCA1): c.5278-2deldeletionPathogenicrs878853285GRCh38Chr 17, 43051119: 43051119
291BRCA1NM_007294.3(BRCA1): c.5331_5332+1delinsCAACATindelPathogenicrs878853286GRCh38Chr 17, 43051062: 43051064
292BRCA1NM_007294.3(BRCA1): c.1150G> T (p.Glu384Ter)SNVPathogenicrs878853288GRCh37Chr 17, 41246398: 41246398
293BRCA1NM_007294.3(BRCA1): c.1881_1882insCC (p.Ser628Profs)insertionPathogenicrs878853289GRCh37Chr 17, 41245666: 41245667
294BRCA1NM_007294.3(BRCA1): c.2562_2563insGC (p.Gln855Alafs)insertionPathogenicrs878853290GRCh37Chr 17, 41244985: 41244986
295BRCA1NM_007294.3(BRCA1): c.2805dupA (p.Asp936Argfs)duplicationPathogenicrs878853291GRCh38Chr 17, 43092726: 43092726
296BRCA1NM_007294.3(BRCA1): c.2933dupA (p.Tyr978Terfs)duplicationPathogenicrs878853292GRCh38Chr 17, 43092598: 43092598
297BRCA1NM_007294.3(BRCA1): c.4570delT (p.Ser1524Leufs)deletionPathogenicrs878853293GRCh37Chr 17, 41226453: 41226453
298BRCA1NM_007294.3(BRCA1): c.4576G> T (p.Glu1526Ter)SNVPathogenicrs878853294GRCh38Chr 17, 43074430: 43074430
299BRCA1NM_007294.3(BRCA1): c.5181_5182delAA (p.Lys1727Asnfs)deletionPathogenicrs878853295GRCh38Chr 17, 43063344: 43063345
300BRCA1NM_007294.3(BRCA1): c.5496_5499delGGTG (p.Val1833Profs)deletionPathogenicrs878853296GRCh38Chr 17, 43045771: 43045774
301BRCA1NM_007294.3(BRCA1): c.64_65dupTT (p.Leu22Phefs)duplicationPathogenicrs80357642GRCh37Chr 17, 41276049: 41276050
302BRCA1NM_007294.3(BRCA1): c.1601_1602delAG (p.Gln534Argfs)deletionPathogenicrs878854933GRCh38Chr 17, 43093929: 43093930
303BRCA1NM_007294.3(BRCA1): c.4484G> C (p.Arg1495Thr)SNVPathogenicrs80357389GRCh37Chr 17, 41228505: 41228505
304BRCA1NM_007294.3(BRCA1): c.3675C> A (p.Cys1225Ter)SNVPathogenicrs879254023GRCh37Chr 17, 41243873: 41243873
305BRCA1NM_007294.3(BRCA1): c.4485-1G> TSNVPathogenicrs80358189GRCh38Chr 17, 43074522: 43074522
306BRCA1NM_007294.3(BRCA1): c.2418delA (p.Ala807Hisfs)deletionPathogenicrs879255281GRCh37Chr 17, 41245130: 41245130
307BRCA1NM_007294.3(BRCA1): c.4389_4392dupCCCT (p.Ile1465Profs)duplicationPathogenicrs879255282GRCh38Chr 17, 43076580: 43076583
308BRCA1NM_007294.3(BRCA1): c.5075-2A> GSNVPathogenicrs80358066GRCh38Chr 17, 43063953: 43063953
309BRCA1NM_007294.3(BRCA1): c.2331_2332dupTG (p.Gly778Valfs)duplicationPathogenicrs431825390GRCh38Chr 17, 43093199: 43093200
310BRCA1NM_007294.3(BRCA1): c.5050_5051delAC (p.Thr1684Tyrfs)deletionPathogenicrs879255283GRCh38Chr 17, 43067631: 43067632
311BRCA1NM_007294.3(BRCA1): c.4675+2T> GSNVLikely pathogenicrs879255293GRCh38Chr 17, 43074329: 43074329
312BRCA1NM_007294.3(BRCA1): c.715delC (p.His239Ilefs)deletionLikely pathogenicrs879255294GRCh37Chr 17, 41246833: 41246833
313BRCA1NM_007294.3(BRCA1): c.4976delC (p.Pro1659Glnfs)deletionPathogenicrs879255295GRCh38Chr 17, 43070938: 43070938
314BRCA1NM_007294.3(BRCA1): c.346delG (p.Glu116Asnfs)deletionPathogenicrs762635795GRCh38Chr 17, 43104217: 43104217
315BRCA1NM_007294.3(BRCA1): c.1407_1408delAA (p.Ser470Profs)deletionPathogenicrs879255476GRCh37Chr 17, 41246140: 41246141
316BRCA1NM_007294.3(BRCA1): c.1575dupT (p.Gln526Serfs)duplicationPathogenicrs879255478GRCh37Chr 17, 41245973: 41245973
317BRCA1NM_007294.3(BRCA1): c.1759_1762delATAA (p.Ile587Alafs)deletionPathogenicrs879255479GRCh37Chr 17, 41245786: 41245789
318BRCA1NM_007294.3(BRCA1): c.1949_1950insCA (p.Lys652Argfs)insertionPathogenicrs879255480GRCh37Chr 17, 41245598: 41245599
319BRCA1NM_007294.3(BRCA1): c.2719delG (p.Glu907Lysfs)deletionPathogenicrs879255481GRCh37Chr 17, 41244829: 41244829
320BRCA1NM_007294.3(BRCA1): c.3257delT (p.Leu1086Terfs)deletionPathogenicrs879255483GRCh37Chr 17, 41244291: 41244291
321BRCA1NM_007294.3(BRCA1): c.403A> T (p.Lys135Ter)SNVPathogenicrs879255485GRCh37Chr 17, 41256177: 41256177
322BRCA1NG_005905.2: g.141479_141480ins5insertionPathogenicrs879255489GRCh38Chr 17, 43076504: 43076505
323BRCA1NM_007294.3(BRCA1): c.4888_4889delGA (p.Glu1630Lysfs)deletionPathogenicrs879255490GRCh38Chr 17, 43071025: 43071026
324BRCA1NM_007294.3(BRCA1): c.628C> T (p.Gln210Ter)SNVPathogenicrs879255495GRCh38Chr 17, 43095888: 43095888
325BRCA1NM_007294.3(BRCA1): c.77T> A (p.Ile26Asn)SNVPathogenicrs879255496GRCh38Chr 17, 43124020: 43124020
326BRCA1NP_009225.1(BRCA1): p.Ser864Terprotein onlyPathogenicChr na, -1: -1
327BRCA1NP_009225.1(BRCA1): p.Ser955Terprotein onlyPathogenicChr na, -1: -1
328BRCA1NM_007294.3(BRCA1): c.-19-?_80+?dupduplicationPathogenicChr na, -1: -1
329BRCA1NM_007294.3(BRCA1): c.4485-?_4675+?deldeletionPathogenicChr na, -1: -1
330BRCA1NM_007294.3(BRCA1): c.81-?_4986+?deldeletionPathogenicChr na, -1: -1
331BRCA1NM_007294.3(BRCA1): c.442-?_593+?deldeletionPathogenicChr na, -1: -1
332BRCA1NM_007294.3(BRCA1): c.442-?_4357+?deldeletionPathogenicChr na, -1: -1
333BRCA1NM_007294.3(BRCA1): c.5333-?_5406+?deldeletionPathogenicChr na, -1: -1
334BRCA1NM_007294.3(BRCA1): c.5075-?_5277+?dupduplicationLikely pathogenic, PathogenicChr na, -1: -1
335BRCA1NM_007294.3(BRCA1): c.442-?_547+?deldeletionPathogenicChr na, -1: -1
336BRCA1NM_007294.3(BRCA1): c.-19-?_80+?deldeletionPathogenicChr na, -1: -1
337BRCA1NM_007294.3(BRCA1): c.51delT (p.Met18Cysfs)deletionPathogenicrs886037967GRCh37Chr 17, 41276063: 41276063
338BRCA1NM_007294.3(BRCA1): c.65delT (p.Leu22Terfs)deletionPathogenicrs80357803GRCh37Chr 17, 41276049: 41276049
339BRCA1NM_007294.3(BRCA1): c.74_75delCC (p.Pro25Hisfs)deletionPathogenicrs80357633GRCh38Chr 17, 43124022: 43124023
340BRCA1NM_007294.3(BRCA1): c.165_166dupGA (p.Lys56Argfs)duplicationPathogenicrs80357550GRCh37Chr 17, 41258519: 41258520
341BRCA1NM_007294.3(BRCA1): c.205dupA (p.Thr69Asnfs)duplicationPathogenicrs886037970GRCh37Chr 17, 41258480: 41258480
342BRCA1NM_007294.3(BRCA1): c.211delA (p.Arg71Glyfs)deletionPathogenicrs886037971GRCh38Chr 17, 43106457: 43106457
343BRCA1NM_007294.3(BRCA1): c.280C> T (p.Gln94Ter)SNVPathogenicrs886037972GRCh37Chr 17, 41256906: 41256906
344BRCA1NM_007294.3(BRCA1): c.390C> G (p.Tyr130Ter)SNVPathogenicrs80356888GRCh38Chr 17, 43104173: 43104173
345BRCA1NM_007294.3(BRCA1): c.397delC (p.Arg133Valfs)deletionPathogenicrs886037973GRCh37Chr 17, 41256183: 41256183
346BRCA1NM_007294.3(BRCA1): c.464_465delAA (p.Gln155Profs)deletionPathogenicrs886037974GRCh38Chr 17, 43099857: 43099858
347BRCA1NM_007294.3(BRCA1): c.465delA (p.Gln155Hisfs)deletionPathogenicrs483353104GRCh37Chr 17, 41251874: 41251874
348BRCA1NM_007294.3(BRCA1): c.475delC (p.Gly160Glufs)deletionPathogenicrs886037976GRCh37Chr 17, 41251864: 41251864
349BRCA1NM_007294.3(BRCA1): c.737T> A (p.Leu246Ter)SNVPathogenicrs886037977GRCh37Chr 17, 41246811: 41246811
350BRCA1NM_007294.3(BRCA1): c.745_746delAC (p.Thr249Terfs)deletionPathogenicrs886037978GRCh37Chr 17, 41246802: 41246803
351BRCA1NM_007294.3(BRCA1): c.784C> T (p.Gln262Ter)SNVPathogenicrs886037979GRCh37Chr 17, 41246764: 41246764
352BRCA1NM_007294.3(BRCA1): c.841_842dupAG (p.Ser281Argfs)duplicationPathogenicrs80357792GRCh38Chr 17, 43094689: 43094690
353BRCA1NM_007294.3(BRCA1): c.856G> T (p.Glu286Ter)SNVPathogenicrs886037980GRCh38Chr 17, 43094675: 43094675
354BRCA1NM_007294.3(BRCA1): c.875delT (p.Leu292Profs)deletionPathogenicrs886037981GRCh38Chr 17, 43094656: 43094656
355BRCA1NM_007294.3(BRCA1): c.897delA (p.Glu300Lysfs)deletionPathogenicrs886037982GRCh37Chr 17, 41246651: 41246651
356BRCA1NM_007294.3(BRCA1): c.954_955insGT (p.Asn319Valfs)insertionPathogenicrs80357690GRCh38Chr 17, 43094576: 43094577
357BRCA1NM_007294.3(BRCA1): c.1018dupG (p.Val340Glyfs)duplicationPathogenicrs886037984GRCh38Chr 17, 43094513: 43094513
358BRCA1NM_007294.3(BRCA1): c.1039delC (p.Leu347Cysfs)deletionPathogenicrs749508254GRCh38Chr 17, 43094492: 43094492
359BRCA1NM_007294.3(BRCA1): c.1044T> A (p.Cys348Ter)SNVPathogenicrs886037985GRCh37Chr 17, 41246504: 41246504
360BRCA1NM_007294.3(BRCA1): c.1080C> A (p.Cys360Ter)SNVPathogenicrs886037986GRCh37Chr 17, 41246468: 41246468
361BRCA1NM_007294.3(BRCA1): c.1105dupG (p.Asp369Glyfs)duplicationPathogenicrs876659396GRCh37Chr 17, 41246443: 41246443
362BRCA1NM_007294.3(BRCA1): c.1123delC (p.Leu375Terfs)deletionPathogenicrs886037987GRCh37Chr 17, 41246425: 41246425
363BRCA1NM_007294.3(BRCA1): c.1190delA (p.Asp397Alafs)deletionPathogenicrs748714307GRCh37Chr 17, 41246358: 41246358
364BRCA1NM_007294.3(BRCA1): c.1257delA (p.Asp420Metfs)deletionPathogenicrs886037988GRCh37Chr 17, 41246291: 41246291
365BRCA1NM_007294.3(BRCA1): c.1501_1504delAAAT (p.Lys501Terfs)deletionPathogenicrs80357632GRCh37Chr 17, 41246044: 41246047
366BRCA1NM_007294.3(BRCA1): c.1543G> T (p.Glu515Ter)SNVPathogenicrs886037990GRCh37Chr 17, 41246005: 41246005
367BRCA1NM_007294.3(BRCA1): c.1650dupT (p.Ser551Terfs)duplicationPathogenicrs753524038GRCh37Chr 17, 41245898: 41245898
368BRCA1NM_007294.3(BRCA1): c.1733_1734delCT (p.Ser578Cysfs)deletionPathogenicrs886037991GRCh37Chr 17, 41245814: 41245815
369BRCA1NM_007294.3(BRCA1): c.1826delA (p.Asn609Ilefs)deletionPathogenicrs80357736GRCh37Chr 17, 41245722: 41245722
370BRCA1NM_007294.3(BRCA1): c.1839_1840delGA (p.Lys614Valfs)deletionPathogenicrs752474843GRCh37Chr 17, 41245708: 41245709
371BRCA1NM_007294.3(BRCA1): c.1842_1843dupGT (p.Ser615Cysfs)duplicationPathogenicrs767595162GRCh37Chr 17, 41245705: 41245706
372BRCA1NM_007294.3(BRCA1): c.1961_1962delAG (p.Lys654Ilefs)deletionPathogenicrs886037993GRCh37Chr 17, 41245586: 41245587
373BRCA1NM_007294.3(BRCA1): c.1977_1978delAG (p.Val660Glnfs)deletionPathogenicrs773413634GRCh37Chr 17, 41245570: 41245571
374BRCA1NM_007294.3(BRCA1): c.2066_2069delGTAA (p.Ser689Lysfs)deletionPathogenicrs886037994GRCh37Chr 17, 41245479: 41245482
375BRCA1NM_007294.3(BRCA1): c.2074_2075delCA (p.His692Terfs)deletionPathogenicrs886037995GRCh37Chr 17, 41245473: 41245474
376BRCA1NM_007294.3(BRCA1): c.2095G> T (p.Glu699Ter)SNVPathogenicrs876658306GRCh37Chr 17, 41245453: 41245453
377BRCA1NM_007294.3(BRCA1): c.2138C> A (p.Ser713Ter)SNVPathogenicrs80357233GRCh37Chr 17, 41245410: 41245410
378BRCA1NM_007294.3(BRCA1): c.2145delC (p.Ser716Valfs)deletionPathogenicrs886037996GRCh37Chr 17, 41245403: 41245403
379BRCA1NM_007294.3(BRCA1): c.2242_2251delAAAGATCTCA (p.Lys748Cysfs)deletionPathogenicrs886037997GRCh38Chr 17, 43093280: 43093289
380BRCA1NM_007294.3(BRCA1): c.2255_2256dupTA (p.Ser753Terfs)duplicationPathogenicrs80357557GRCh37Chr 17, 41245292: 41245293
381BRCA1NM_007294.3(BRCA1): c.2246_2280del35 (p.Asp749Glyfs)deletionPathogenicrs886037998GRCh37Chr 17, 41245268: 41245302
382BRCA1NM_007294.3(BRCA1): c.2380dupG (p.Ala794Glyfs)duplicationPathogenicrs886037999GRCh38Chr 17, 43093151: 43093151
383BRCA1NM_007294.3(BRCA1): c.2409delT (p.Gln804Serfs)deletionPathogenicrs770460699GRCh37Chr 17, 41245139: 41245139
384BRCA1NM_007294.3(BRCA1): c.2445_2448delTCAT (p.Ile815Metfs)deletionPathogenicrs886038000GRCh37Chr 17, 41245100: 41245103
385BRCA1NM_007294.3(BRCA1): c.2599C> T (p.Gln867Ter)SNVPathogenicrs886038001GRCh37Chr 17, 41244949: 41244949
386BRCA1NM_007294.3(BRCA1): c.2601_2604dupGTCA (p.Phe869Valfs)duplicationPathogenicrs80357603GRCh37Chr 17, 41244944: 41244947
387BRCA1NM_007294.3(BRCA1): c.2630delA (p.Asn877Metfs)deletionPathogenicrs886038002GRCh38Chr 17, 43092901: 43092901
388BRCA1NM_007294.3(BRCA1): c.2649_2650insGGCA (p.Thr884Glyfs)insertionPathogenicrs886038003GRCh37Chr 17, 41244898: 41244899
389BRCA1NM_007294.3(BRCA1): c.2689_2690insAC (p.Pro897Hisfs)insertionPathogenicrs397508999GRCh37Chr 17, 41244858: 41244859
390BRCA1NM_007294.3(BRCA1): c.2806_2807delGA (p.Asp936Terfs)deletionPathogenicrs886038004GRCh37Chr 17, 41244741: 41244742
391BRCA1NM_007294.3(BRCA1): c.2898delT (p.Thr967Leufs)deletionPathogenicrs886038005GRCh37Chr 17, 41244650: 41244650
392BRCA1NM_007294.3(BRCA1): c.2927delA (p.Asn976Thrfs)deletionPathogenicrs886038006GRCh37Chr 17, 41244621: 41244621
393BRCA1NM_007294.3(BRCA1): c.3001G> T (p.Glu1001Ter)SNVPathogenicrs886038007GRCh37Chr 17, 41244547: 41244547
394BRCA1NM_007294.3(BRCA1): c.3015delA (p.Glu1005Aspfs)deletionPathogenicrs886038008GRCh37Chr 17, 41244533: 41244533
395BRCA1NM_007294.3(BRCA1): c.3226A> T (p.Arg1076Ter)SNVPathogenicrs886038009GRCh37Chr 17, 41244322: 41244322
396BRCA1NM_007294.3(BRCA1): c.3279_3280delCT (p.Tyr1094Terfs)deletionPathogenicrs886038010GRCh37Chr 17, 41244268: 41244269
397BRCA1NM_007294.3(BRCA1): c.3330delG (p.Lys1110Asnfs)deletionPathogenicrs886038011GRCh37Chr 17, 41244218: 41244218
398BRCA1NM_007294.3(BRCA1): c.3442G> T (p.Glu1148Ter)SNVPathogenicrs886038012GRCh38Chr 17, 43092089: 43092089
399BRCA1NM_007294.3(BRCA1): c.3459_3460delGT (p.Leu1154Argfs)deletionPathogenicrs886038013GRCh37Chr 17, 41244088: 41244089
400BRCA1NM_007294.3(BRCA1): c.3458_3462delTGTTA (p.Leu1153Argfs)deletionPathogenicrs886038014GRCh38Chr 17, 43092069: 43092073
401BRCA1NM_007294.3(BRCA1): c.3496delG (p.Ala1166Leufs)deletionPathogenicrs886038015GRCh37Chr 17, 41244052: 41244052
402BRCA1NM_007294.3(BRCA1): c.3531dupT (p.Ser1178Terfs)duplicationPathogenicrs761143251GRCh38Chr 17, 43092000: 43092000
403BRCA1NM_007294.3(BRCA1): c.3541delG (p.Val1181Serfs)deletionPathogenicrs886038016GRCh37Chr 17, 41244007: 41244007
404BRCA1NM_007294.3(BRCA1): c.3547_3550delAAAGinsGAT (p.Lys1183Aspfs)indelPathogenicrs886038017GRCh37Chr 17, 41243998: 41244001
405BRCA1NM_007294.3(BRCA1): c.3570delT (p.Ser1191Alafs)deletionPathogenicrs886038018GRCh37Chr 17, 41243978: 41243978
406BRCA1NM_007294.3(BRCA1): c.3592_3593dupTT (p.Leu1198Phefs)duplicationPathogenicrs80357562GRCh37Chr 17, 41243955: 41243956
407BRCA1NM_007294.3(BRCA1): c.3616delG (p.Ala1206Profs)deletionPathogenicrs886038019GRCh37Chr 17, 41243932: 41243932
408BRCA1NM_007294.3(BRCA1): c.3624delA (p.Lys1208Asnfs)deletionPathogenicrs886038020GRCh37Chr 17, 41243924: 41243924
409BRCA1NM_007294.3(BRCA1): c.3635C> G (p.Ser1212Ter)SNVPathogenicrs886038021GRCh38Chr 17, 43091896: 43091896
410BRCA1NM_007294.3(BRCA1): c.3695delG (p.Gly1232Valfs)deletionPathogenicrs886038022GRCh37Chr 17, 41243853: 41243853
411BRCA1NM_007294.3(BRCA1): c.3697A> T (p.Lys1233Ter)SNVPathogenicrs774679104GRCh37Chr 17, 41243851: 41243851
412BRCA1NM_007294.3(BRCA1): c.3710_3711dupTA (p.Pro1238Tyrfs)duplicationPathogenicrs777371832GRCh37Chr 17, 41243837: 41243838
413BRCA1NM_007294.3(BRCA1): c.3714_3747del34 (p.Gln1240Valfs)deletionPathogenicrs886038023GRCh37Chr 17, 41243801: 41243834
414BRCA1NM_007294.3(BRCA1): c.3770_3777delAGGAGAAT (p.Glu1257Valfs)deletionPathogenicrs886038024GRCh37Chr 17, 41243771: 41243778
415BRCA1NM_007294.3(BRCA1): c.3779T> G (p.Leu1260Ter)SNVPathogenicrs886038025GRCh37Chr 17, 41243769: 41243769
416BRCA1NM_007294.3(BRCA1): c.3853delC (p.Ser1286Valfs)deletionPathogenicrs397507222GRCh37Chr 17, 41243695: 41243695
417BRCA1NM_007294.3(BRCA1): c.3889delT (p.Ser1297Leufs)deletionPathogenicrs886038027GRCh38Chr 17, 43091642: 43091642
418BRCA1NM_007294.3(BRCA1): c.3910G> T (p.Glu1304Ter)SNVPathogenicrs886038028GRCh37Chr 17, 41243638: 41243638
419BRCA1NM_007294.3(BRCA1): c.3999_4008delTGGTCTGAGT (p.Gly1334Thrfs)deletionPathogenicrs754792932GRCh37Chr 17, 41243540: 41243549
420BRCA1NM_007294.3(BRCA1): c.4013delA (p.Lys1338Argfs)deletionPathogenicrs886038029GRCh37Chr 17, 41243535: 41243535
421BRCA1NM_007294.3(BRCA1): c.4015dupG (p.Glu1339Glyfs)duplicationPathogenicrs886038030GRCh38Chr 17, 43091516: 43091516
422BRCA1NM_007294.3(BRCA1): c.4038_4039delAA (p.Gly1348Asnfs)deletionPathogenicrs273900721GRCh37Chr 17, 41243509: 41243510
423BRCA1NM_007294.3(BRCA1): c.4088C> G (p.Ser1363Ter)SNVPathogenicrs398122680GRCh38Chr 17, 43091443: 43091443
424BRCA1NM_007294.3(BRCA1): c.4139_4140delAA (p.Glu1380Glyfs)deletionPathogenicrs886038032GRCh38Chr 17, 43090989: 43090990
425BRCA1NM_007294.3(BRCA1): c.4193_4194insGG (p.Asp1398Glufs)insertionPathogenicrs886038033GRCh37Chr 17, 41234584: 41234585
426BRCA1NM_007294.3(BRCA1): c.4483delA (p.Arg1495Glyfs)deletionPathogenicrs886038034GRCh37Chr 17, 41228506: 41228506
427BRCA1NM_007294.3(BRCA1): c.4609_4610insCC (p.Gln1537Profs)insertionPathogenicrs886038035GRCh37Chr 17, 41226413: 41226414
428BRCA1NM_007294.3(BRCA1): c.4806delT (p.Gln1604Asnfs)deletionPathogenicrs886038036GRCh38Chr 17, 43071108: 43071108
429BRCA1NM_007294.3(BRCA1): c.4895_4896delTG (p.Val1632Glufs)deletionPathogenicrs886038037GRCh37Chr 17, 41223035: 41223036
430BRCA1NM_007294.3(BRCA1): c.4932_4933dupAA (p.Arg1645Lysfs)duplicationPathogenicrs80357833GRCh37Chr 17, 41222998: 41222999
431BRCA1NM_007294.3(BRCA1): c.4969delC (p.Leu1657Terfs)deletionPathogenicrs886038038GRCh38Chr 17, 43070945: 43070945
432BRCA1NM_007294.3(BRCA1): c.5027_5031delTAACT (p.Leu1676Terfs)deletionPathogenicrs431825410GRCh38Chr 17, 43067651: 43067655
433BRCA1NM_007294.3(BRCA1): c.5123delC (p.Ala1708Glyfs)deletionPathogenicrs886038040GRCh37Chr 17, 41215920: 41215920
434BRCA1NM_007294.3(BRCA1): c.5133dupA (p.Trp1712Metfs)duplicationPathogenicrs886038041GRCh37Chr 17, 41215910: 41215910
435BRCA1NM_007294.3(BRCA1): c.5234dupA (p.Asn1745Lysfs)duplicationPathogenicrs886038042GRCh38Chr 17, 43057095: 43057095
436BRCA1NM_007294.3(BRCA1): c.5268_5274delGGACAGA (p.Asp1757Argfs)deletionPathogenicrs886038043GRCh38Chr 17, 43057055: 43057061
437BRCA1NM_007294.3(BRCA1): c.5276delA (p.Lys1759Argfs)deletionPathogenicrs80357732GRCh37Chr 17, 41209070: 41209070
438BRCA1NM_007294.3(BRCA1): c.5338delC (p.Leu1780Trpfs)deletionPathogenicrs886038045GRCh38Chr 17, 43049189: 43049189
439BRCA1NM_007294.3(BRCA1): c.5366delC (p.Ala1789Valfs)deletionPathogenicrs760188581GRCh38Chr 17, 43049161: 43049161
440BRCA1NM_007294.3(BRCA1): c.5391delA (p.Phe1798Serfs)deletionPathogenicrs774988515GRCh38Chr 17, 43049136: 43049136
441BRCA1NM_007294.3(BRCA1): c.5484_5485delTG (p.Cys1828Terfs)deletionPathogenicrs886038046GRCh37Chr 17, 41197802: 41197803
442BRCA1NM_007294.3(BRCA1): c.5485dupG (p.Glu1829Glyfs)duplicationPathogenicrs768401297GRCh38Chr 17, 43045785: 43045785
443BRCA1NM_007294.3(BRCA1): c.213-5T> ASNVLikely pathogenicrs886038196GRCh38Chr 17, 43104961: 43104961
444BRCA1NM_007294.3(BRCA1): c.101_105delCTGTC (p.Pro34Leufs)deletionPathogenicrs886039920GRCh37Chr 17, 41267772: 41267776
445BRCA1NM_007294.3(BRCA1): c.1016_1017insC (p.Lys339Asnfs)insertionPathogenicrs80357569GRCh37Chr 17, 41246531: 41246532
446BRCA1NM_007294.3(BRCA1): c.1017_1018insA (p.Val340Serfs)insertionPathogenicrs886039921GRCh38Chr 17, 43094513: 43094514
447BRCA1NM_007294.3(BRCA1): c.102delT (p.Val35Serfs)deletionPathogenicrs886039922GRCh37Chr 17, 41267775: 41267775
448BRCA1NM_007294.3(BRCA1): c.1044_1045insTCAC (p.Glu349Serfs)insertionPathogenicrs886039923GRCh38Chr 17, 43094486: 43094487
449BRCA1NM_007294.3(BRCA1): c.1044_1047delTGAG (p.Cys348Terfs)deletionPathogenicrs886039924GRCh38Chr 17, 43094484: 43094487
450BRCA1NM_007294.3(BRCA1): c.1049_1050delGA (p.Arg350Lysfs)deletionPathogenicrs886039925GRCh38Chr 17, 43094481: 43094482
451BRCA1NM_007294.3(BRCA1): c.1054delG (p.Glu352Asnfs)deletionPathogenicrs886039926GRCh38Chr 17, 43094477: 43094477
452BRCA1NM_007294.3(BRCA1): c.1104delA (p.Asp369Metfs)deletionPathogenicrs886039927GRCh38Chr 17, 43094427: 43094427
453BRCA1NM_007294.3(BRCA1): c.1125_1132delAAATAGCA (p.Asn376Hisfs)deletionPathogenicrs886039928GRCh37Chr 17, 41246416: 41246423
454BRCA1NM_007294.3(BRCA1): c.1140delG (p.Val382Leufs)deletionPathogenicrs886039929GRCh38Chr 17, 43094391: 43094391
455BRCA1NM_007294.3(BRCA1): c.1171G> T (p.Glu391Ter)SNVPathogenicrs562553169GRCh37Chr 17, 41246377: 41246377
456BRCA1NM_007294.3(BRCA1): c.1174delC (p.Leu392Cysfs)deletionPathogenicrs886039930GRCh37Chr 17, 41246374: 41246374
457BRCA1NM_007294.3(BRCA1): c.1179_1180insT (p.Gly394Trpfs)insertionPathogenicrs886039931GRCh37Chr 17, 41246368: 41246369
458BRCA1NM_007294.3(BRCA1): c.1209_1210delTG (p.Glu404Ilefs)deletionPathogenicrs886039932GRCh38Chr 17, 43094321: 43094322
459BRCA1NM_007294.3(BRCA1): c.1209dupT (p.Glu404Terfs)duplicationPathogenicrs886039933GRCh37Chr 17, 41246339: 41246339
460BRCA1NM_007294.3(BRCA1): c.1210_1211insCT (p.Glu404Alafs)insertionPathogenicrs886039934GRCh37Chr 17, 41246337: 41246338
461BRCA1NM_007294.3(BRCA1): c.1222A> T (p.Lys408Ter)SNVPathogenicrs80357253GRCh38Chr 17, 43094309: 43094309
462BRCA1NM_007294.3(BRCA1): c.1227_1230dupAGCT (p.Asp411Serfs)duplicationPathogenicrs886039935GRCh38Chr 17, 43094301: 43094304
463BRCA1NM_007294.3(BRCA1): c.1252dupG (p.Glu418Glyfs)duplicationPathogenicrs886039936GRCh37Chr 17, 41246296: 41246296
464BRCA1NM_007294.3(BRCA1): c.1253delA (p.Glu418Glyfs)deletionPathogenicrs886039937GRCh38Chr 17, 43094278: 43094278
465BRCA1NM_007294.3(BRCA1): c.1261G> T (p.Glu421Ter)SNVPathogenicrs80357046GRCh37Chr 17, 41246287: 41246287
466BRCA1NM_007294.3(BRCA1): c.1273dupT (p.Ser425Phefs)duplicationPathogenicrs886039938GRCh38Chr 17, 43094258: 43094258
467BRCA1NM_007294.3(BRCA1): c.1277C> A (p.Ser426Ter)SNVPathogenicrs886039939GRCh38Chr 17, 43094254: 43094254
468BRCA1NM_007294.3(BRCA1): c.1277C> G (p.Ser426Ter)SNVPathogenicrs886039939GRCh37Chr 17, 41246271: 41246271
469BRCA1NM_007294.3(BRCA1): c.1288dupG (p.Asp430Glyfs)duplicationPathogenicrs886039940GRCh38Chr 17, 43094243: 43094243
470BRCA1NM_007294.3(BRCA1): c.1303_1309delGATCCTCinsAAAGT (p.Asp435Lysfs)indelPathogenicrs886039941GRCh37Chr 17, 41246239: 41246245
471BRCA1NM_007294.3(BRCA1): c.1327_1345del19 (p.Lys443Profs)deletionPathogenicrs886039942GRCh37Chr 17, 41246203: 41246221
472BRCA1NM_007294.3(BRCA1): c.1333delG (p.Glu445Lysfs)deletionPathogenicrs886039943GRCh38Chr 17, 43094198: 43094198
473BRCA1NM_007294.3(BRCA1): c.1336delA (p.Arg446Glufs)deletionPathogenicrs886039944GRCh37Chr 17, 41246212: 41246212
474BRCA1NM_007294.3(BRCA1): c.1347delC (p.Lys450Asnfs)deletionPathogenicrs886039945GRCh37Chr 17, 41246201: 41246201
475BRCA1NM_007294.3(BRCA1): c.1354delG (p.Val452Terfs)deletionPathogenicrs886039946GRCh38Chr 17, 43094177: 43094177
476BRCA1NM_007294.3(BRCA1): c.1375A> T (p.Lys459Ter)SNVPathogenicrs886039947GRCh37Chr 17, 41246173: 41246173
477BRCA1NM_007294.3(BRCA1): c.1378dupA (p.Ile460Asnfs)duplicationPathogenicrs886039948GRCh37Chr 17, 41246170: 41246170
478BRCA1NM_007294.3(BRCA1): c.1379delT (p.Ile460Asnfs)deletionPathogenicrs886039949GRCh37Chr 17, 41246169: 41246169
479BRCA1NM_007294.3(BRCA1): c.1390dupA (p.Thr464Asnfs)duplicationPathogenicrs397508867GRCh37Chr 17, 41246158: 41246158
480BRCA1NM_007294.3(BRCA1): c.140_141insT (p.Met48Hisfs)insertionPathogenicrs886039950GRCh37Chr 17, 41258544: 41258545
481BRCA1NM_007294.3(BRCA1): c.1412dupT (p.Asn473Glnfs)duplicationPathogenicrs886039951GRCh37Chr 17, 41246136: 41246136
482BRCA1NM_007294.3(BRCA1): c.1419_1422delCTTA (p.Asn473Lysfs)deletionPathogenicrs886039952GRCh37Chr 17, 41246126: 41246129
483BRCA1NM_007294.3(BRCA1): c.1428_1437delTGTAACTGAA (p.His476Glnfs)deletionPathogenicrs886039953GRCh37Chr 17, 41246111: 41246120
484BRCA1NM_007294.3(BRCA1): c.1497_1509delAAATAAATTAAAG (p.Asn500Valfs)deletionPathogenicrs886039954GRCh38Chr 17, 43094022: 43094034
485BRCA1NM_007294.3(BRCA1): c.1504_1507delTTAA (p.Leu502Serfs)deletionPathogenicrs886039955GRCh38Chr 17, 43094024: 43094027
486BRCA1NM_007294.3(BRCA1): c.1505delT (p.Leu502Terfs)deletionPathogenicrs886039956GRCh37Chr 17, 41246043: 41246043
487BRCA1NM_007294.3(BRCA1): c.1505T> G (p.Leu502Ter)SNVPathogenicrs886039957GRCh37Chr 17, 41246043: 41246043
488BRCA1NM_007294.3(BRCA1): c.1529C> A (p.Ser510Ter)SNVPathogenicrs80357427GRCh38Chr 17, 43094002: 43094002
489BRCA1NM_007294.3(BRCA1): c.1575delT (p.Gln526Lysfs)deletionPathogenicrs886039958GRCh37Chr 17, 41245973: 41245973
490BRCA1NM_007294.3(BRCA1): c.1616_1625delCGGAGCAGAA (p.Thr539Metfs)deletionPathogenicrs886039959GRCh37Chr 17, 41245923: 41245932
491BRCA1NM_007294.3(BRCA1): c.1618G> T (p.Glu540Ter)SNVPathogenicrs730881471GRCh37Chr 17, 41245930: 41245930
492BRCA1NM_007294.3(BRCA1): c.1637_1685del49insGAAAG (p.Met546Argfs)indelPathogenicrs483353085GRCh38Chr 17, 43093846: 43093894
493BRCA1NM_007294.3(BRCA1): c.1642_1643delAT (p.Ile548Tyrfs)deletionPathogenicrs886039960GRCh37Chr 17, 41245905: 41245906
494BRCA1NM_007294.3(BRCA1): c.1651_1652insC (p.Ser551Thrfs)insertionPathogenicrs886039961GRCh37Chr 17, 41245896: 41245897
495BRCA1NM_007294.3(BRCA1): c.1669delA (p.Thr557Glnfs)deletionPathogenicrs886039962GRCh38Chr 17, 43093862: 43093862
496BRCA1NM_007294.3(BRCA1): c.1693G> T (p.Glu565Ter)SNVPathogenicrs886039963GRCh37Chr 17, 41245855: 41245855
497BRCA1NM_007294.3(BRCA1): c.171dupG (p.Pro58Alafs)duplicationPathogenicrs886039964GRCh37Chr 17, 41258514: 41258514
498BRCA1NM_007294.3(BRCA1): c.1723G> T (p.Glu575Ter)SNVPathogenicrs397508902GRCh37Chr 17, 41245825: 41245825
499BRCA1NM_007294.3(BRCA1): c.1749_1755delAGCTGAA (p.Lys583Asnfs)deletionPathogenicrs886039965GRCh37Chr 17, 41245793: 41245799
500BRCA1NM_007294.3(BRCA1): c.1762dupA (p.Ser588Lysfs)duplicationPathogenicrs886039966GRCh37Chr 17, 41245786: 41245786
501BRCA1NM_007294.3(BRCA1): c.176C> A (p.Ser59Ter)SNVPathogenicrs199522616GRCh38Chr 17, 43106492: 43106492
502BRCA1NM_007294.3(BRCA1): c.1779_1785delTATGGAA (p.Met594Serfs)deletionPathogenicrs886039967GRCh37Chr 17, 41245763: 41245769
503BRCA1NM_007294.3(BRCA1): c.1795_1798delAATA (p.Asn599Serfs)deletionPathogenicrs886039968GRCh38Chr 17, 43093733: 43093736
504BRCA1NM_007294.3(BRCA1): c.179dupA (p.Cys61Valfs)duplicationPathogenicrs886039969GRCh37Chr 17, 41258506: 41258506
505BRCA1NM_007294.3(BRCA1): c.1803delC (p.His601Glnfs)deletionPathogenicrs886039970GRCh37Chr 17, 41245745: 41245745
506BRCA1NM_007294.3(BRCA1): c.182_183insGCGC (p.Cys61Trpfs)insertionPathogenicrs886039971GRCh38Chr 17, 43106485: 43106486
507BRCA1NM_007294.3(BRCA1): c.1820_1823delAAAA (p.Lys607Argfs)deletionPathogenicrs886039972GRCh37Chr 17, 41245725: 41245728
508BRCA1NM_007294.3(BRCA1): c.1844_1845insG (p.Ser616Phefs)insertionPathogenicrs886039973GRCh38Chr 17, 43093686: 43093687
509BRCA1NM_007294.3(BRCA1): c.1847delC (p.Ser616Leufs)deletionPathogenicrs886039974GRCh37Chr 17, 41245701: 41245701
510BRCA1NM_007294.3(BRCA1): c.1878_1879insTAGT (p.Val627Terfs)insertionPathogenicrs886039975GRCh38Chr 17, 43093652: 43093653
511BRCA1NM_007294.3(BRCA1): c.1885delA (p.Arg629Glufs)deletionPathogenicrs886039976GRCh37Chr 17, 41245663: 41245663
512BRCA1NM_007294.3(BRCA1): c.1887_1900dupAAATCTAAGCCCAC (p.Pro634Glnfs)duplicationPathogenicrs886039977GRCh37Chr 17, 41245648: 41245661
513BRCA1NM_007294.3(BRCA1): c.190_211del22 (p.Cys64Glyfs)deletionPathogenicrs886039978GRCh37Chr 17, 41258474: 41258495
514BRCA1NM_007294.3(BRCA1): c.1905_1909delTTGTA (p.Cys636Terfs)deletionPathogenicrs886039979GRCh37Chr 17, 41245639: 41245643
515BRCA1NM_007294.3(BRCA1): c.1908_1911delTACT (p.Cys636Trpfs)deletionPathogenicrs886039980GRCh37Chr 17, 41245637: 41245640
516BRCA1NM_007294.3(BRCA1): c.1918C> T (p.Gln640Ter)SNVPathogenicrs886039981GRCh37Chr 17, 41245630: 41245630
517BRCA1NM_007294.3(BRCA1): c.1930delT (p.Cys644Valfs)deletionPathogenicrs886039982GRCh37Chr 17, 41245618: 41245618
518BRCA1NM_007294.3(BRCA1): c.1938_1945delCAGTGAAG (p.Ser646Argfs)deletionPathogenicrs886039983GRCh38Chr 17, 43093586: 43093593
519BRCA1NM_007294.3(BRCA1): c.1942G> T (p.Glu648Ter)SNVPathogenicrs886039984GRCh38Chr 17, 43093589: 43093589
520BRCA1NM_007294.3(BRCA1): c.1949_1952delTAAA (p.Ile650Argfs)deletionPathogenicrs886039985GRCh38Chr 17, 43093579: 43093582
521BRCA1NM_007294.3(BRCA1): c.1953delG (p.Lys654Serfs)deletionPathogenicrs886039986GRCh37Chr 17, 41245595: 41245595
522BRCA1NM_007294.3(BRCA1): c.1965C> A (p.Tyr655Ter)SNVPathogenicrs886039987GRCh38Chr 17, 43093566: 43093566
523BRCA1NM_007294.3(BRCA1): c.1978delG (p.Val660Serfs)deletionPathogenicrs886039988GRCh38Chr 17, 43093553: 43093553
524BRCA1NM_007294.3(BRCA1): c.2012dupG (p.Lys672Terfs)duplicationPathogenicrs886039989GRCh37Chr 17, 41245536: 41245536
525BRCA1NM_007294.3(BRCA1): c.202dupA (p.Ile68Asnfs)duplicationPathogenicrs886039990GRCh37Chr 17, 41258483: 41258483
526BRCA1NM_007294.3(BRCA1): c.2068A> T (p.Lys690Ter)SNVPathogenicrs587781448GRCh38Chr 17, 43093463: 43093463
527BRCA1NM_007294.3(BRCA1): c.2077delGinsATA (p.Asp693Ilefs)indelPathogenicrs886039991GRCh38Chr 17, 43093454: 43093454
528BRCA1NM_007294.3(BRCA1): c.2078_2079insTA (p.Ser694Thrfs)insertionPathogenicrs886039992GRCh37Chr 17, 41245469: 41245470
529BRCA1NM_007294.3(BRCA1): c.2080dupA (p.Ser694Lysfs)duplicationPathogenicrs886039993GRCh37Chr 17, 41245468: 41245468
530BRCA1NM_007294.3(BRCA1): c.2086_2089delACTT (p.Thr696Serfs)deletionPathogenicrs886039994GRCh38Chr 17, 43093442: 43093445
531BRCA1NM_007294.3(BRCA1): c.2086dupA (p.Thr696Asnfs)duplicationPathogenicrs886039995GRCh38Chr 17, 43093445: 43093445
532BRCA1NM_007294.3(BRCA1): c.2090dupT (p.Glu699Argfs)duplicationPathogenicrs886039996GRCh37Chr 17, 41245458: 41245458
533BRCA1NM_007294.3(BRCA1): c.2105delT (p.Leu702Terfs)deletionPathogenicrs886039997GRCh38Chr 17, 43093426: 43093426
534BRCA1NM_007294.3(BRCA1): c.2112_2131dup20 (p.Lys711Metfs)duplicationPathogenicrs886039998GRCh37Chr 17, 41245417: 41245436
535BRCA1NM_007294.3(BRCA1): c.2125_2126insAGT (p.Phe709_Asn1043delinsTer)insertionPathogenicrs80357871GRCh37Chr 17, 41245422: 41245423
536BRCA1NM_007294.3(BRCA1): c.2127_2128insGA (p.Thr710Glufs)insertionPathogenicrs886039999GRCh38Chr 17, 43093403: 43093404
537BRCA1NM_007294.3(BRCA1): c.2127delT (p.Phe709Leufs)deletionPathogenicrs886040000GRCh38Chr 17, 43093404: 43093404
538BRCA1NM_007294.3(BRCA1): c.2135_2136delGT (p.Cys712Phefs)deletionPathogenicrs886040001GRCh37Chr 17, 41245412: 41245413
539BRCA1NM_007294.3(BRCA1): c.2138_2139dupCA (p.Asn714Glnfs)duplicationPathogenicrs886040002GRCh37Chr 17, 41245409: 41245410
540BRCA1NM_007294.3(BRCA1): c.2142_2144delTACinsAG (p.Asn714Lysfs)indelPathogenicrs886040003GRCh38Chr 17, 43093387: 43093389
541BRCA1NM_007294.3(BRCA1): c.2149G> T (p.Glu717Ter)SNVPathogenicrs886040004GRCh38Chr 17, 43093382: 43093382
542BRCA1NM_007294.3(BRCA1): c.2155_2221dup67 (p.Ser741Terfs)duplicationPathogenicGRCh37Chr 17, 41245327: 41245393
543BRCA1NM_007294.3(BRCA1): c.2157_2160delAGAA (p.Lys719Asnfs)deletionPathogenicrs886040005GRCh38Chr 17, 43093371: 43093374
544BRCA1NM_007294.3(BRCA1): c.2161_2162insG (p.Phe721Cysfs)insertionPathogenicrs886040006GRCh38Chr 17, 43093369: 43093370
545BRCA1NM_007294.3(BRCA1): c.2185_2189delGAAGA (p.Glu729Lysfs)deletionPathogenicrs886040007GRCh38Chr 17, 43093342: 43093346
546BRCA1NM_007294.3(BRCA1): c.2188_2195delGAAAAAGAinsAAAAAGG (p.Glu730Lysfs)indelPathogenicrs886040008GRCh38Chr 17, 43093336: 43093343
547BRCA1NM_007294.3(BRCA1): c.2193delA (p.Glu732Lysfs)deletionPathogenicrs886040009GRCh38Chr 17, 43093338: 43093338
548BRCA1NM_007294.3(BRCA1): c.2194delGinsAA (p.Glu732Lysfs)indelPathogenicrs886040010GRCh38Chr 17, 43093337: 43093337
549BRCA1NM_007294.3(BRCA1): c.2195_2196delAAinsG (p.Glu732Glyfs)indelPathogenicrs886040011GRCh37Chr 17, 41245352: 41245353
550BRCA1NM_007294.3(BRCA1): c.2198dupA (p.Lys734Glufs)duplicationPathogenicrs886040012GRCh38Chr 17, 43093333: 43093333
551BRCA1NM_007294.3(BRCA1): c.22_50del29 (p.Val8Tyrfs)deletionPathogenicrs886040013GRCh37Chr 17, 41276064: 41276092
552BRCA1NM_007294.3(BRCA1): c.2202dupA (p.Leu735Thrfs)duplicationPathogenicrs886040014GRCh38Chr 17, 43093329: 43093329
553BRCA1NM_007294.3(BRCA1): c.2205delA (p.Glu736Lysfs)deletionPathogenicrs886040015GRCh38Chr 17, 43093326: 43093326
554BRCA1NM_007294.3(BRCA1): c.2211dupA (p.Val738Serfs)duplicationPathogenicrs886040016GRCh38Chr 17, 43093320: 43093320
555BRCA1NM_007294.3(BRCA1): c.2214_2218delTAAAGinsAAA (p.Lys739Asnfs)indelPathogenicrs886040017GRCh37Chr 17, 41245330: 41245334
556BRCA1NM_007294.3(BRCA1): c.2218delG (p.Val740Cysfs)deletionPathogenicrs886040018GRCh37Chr 17, 41245330: 41245330
557BRCA1NM_007294.3(BRCA1): c.2222_2223delCT (p.Ser741Terfs)deletionPathogenicrs886040019GRCh37Chr 17, 41245325: 41245326
558BRCA1NM_007294.3(BRCA1): c.2223dupT (p.Asn742Terfs)duplicationPathogenicrs886040020GRCh37Chr 17, 41245325: 41245325
559BRCA1NM_007294.3(BRCA1): c.2273delT (p.Leu758Cysfs)deletionPathogenicrs886040021GRCh37Chr 17, 41245275: 41245275
560BRCA1NM_007294.3(BRCA1): c.2307_2313delTTCATTG (p.Ile769Metfs)deletionPathogenicrs886040022GRCh38Chr 17, 43093218: 43093224
561BRCA1NM_007294.3(BRCA1): c.2309C> G (p.Ser770Ter)SNVPathogenicrs80357063GRCh38Chr 17, 43093222: 43093222
562BRCA1NM_007294.3(BRCA1): c.2311_2312insC (p.Leu771Serfs)insertionPathogenicrs886040023GRCh37Chr 17, 41245236: 41245237
563BRCA1NM_007294.3(BRCA1): c.2314_2315delGT (p.Val772Thrfs)deletionPathogenicrs886040024GRCh37Chr 17, 41245233: 41245234
564BRCA1NM_007294.3(BRCA1): c.2322delT (p.Thr775Leufs)deletionPathogenicrs886040025GRCh38Chr 17, 43093209: 43093209
565BRCA1NM_007294.3(BRCA1): c.2331T> G (p.Tyr777Ter)SNVPathogenicrs80357444GRCh38Chr 17, 43093200: 43093200
566BRCA1NM_007294.3(BRCA1): c.2340_2343delGGAA (p.Glu781Valfs)deletionPathogenicrs886040026GRCh37Chr 17, 41245205: 41245208
567BRCA1NM_007294.3(BRCA1): c.2346dupT (p.Ile783Tyrfs)duplicationPathogenicrs886040027GRCh38Chr 17, 43093185: 43093185
568BRCA1NM_007294.3(BRCA1): c.2361delA (p.Val788Leufs)deletionPathogenicrs886040028GRCh37Chr 17, 41245187: 41245187
569BRCA1NM_007294.3(BRCA1): c.2368_2369delAC (p.Thr790Serfs)deletionPathogenicrs886040029GRCh38Chr 17, 43093162: 43093163
570BRCA1NM_007294.3(BRCA1): c.237delT (p.Phe79Leufs)deletionPathogenicrs886040030GRCh37Chr 17, 41256949: 41256949
571BRCA1NM_007294.3(BRCA1): c.2387dupC (p.Glu797Argfs)duplicationPathogenicrs886040031GRCh38Chr 17, 43093144: 43093144
572BRCA1NM_007294.3(BRCA1): c.239_241delGTCinsTT (p.Ser80Ilefs)indelPathogenicrs886040032GRCh37Chr 17, 41256945: 41256947
573BRCA1NM_007294.3(BRCA1): c.2396delA (p.Asn799Ilefs)deletionPathogenicrs886040033GRCh37Chr 17, 41245152: 41245152
574BRCA1NM_007294.3(BRCA1): c.2398_2411delAAATGTGTGAGTCA (p.Lys800Valfs)deletionPathogenicrs886040034GRCh38Chr 17, 43093120: 43093133
575BRCA1NM_007294.3(BRCA1): c.2411delA (p.Gln804Argfs)deletionPathogenicrs886040035GRCh38Chr 17, 43093120: 43093120
576BRCA1NM_007294.3(BRCA1): c.2418dupA (p.Ala807Serfs)duplicationPathogenicrs886040036GRCh37Chr 17, 41245130: 41245130
577BRCA1NM_007294.3(BRCA1): c.2429dupA (p.Asn810Lysfs)duplicationPathogenicrs886040037GRCh38Chr 17, 43093102: 43093102
578BRCA1NM_007294.3(BRCA1): c.2442_2443insT (p.Ile815Tyrfs)insertionPathogenicrs886040038GRCh38Chr 17, 43093088: 43093089
579BRCA1NM_007294.3(BRCA1): c.246delT (p.Val83Leufs)deletionPathogenicrs886040039GRCh37Chr 17, 41256940: 41256940
580BRCA1NM_007294.3(BRCA1): c.2473delG (p.Asp825Thrfs)deletionPathogenicrs886040040GRCh37Chr 17, 41245075: 41245075
581BRCA1NM_007294.3(BRCA1): c.2477_2492del16insTG (p.Thr826Metfs)indelPathogenicrs886040041GRCh38Chr 17, 43093039: 43093054
582BRCA1NM_007294.3(BRCA1): c.2481delA (p.Gly828Alafs)deletionPathogenicrs886040042GRCh38Chr 17, 43093050: 43093050
583BRCA1NM_007294.3(BRCA1): c.2487_2488insCCCCT (p.Lys830Profs)insertionPathogenicrs397508972GRCh38Chr 17, 43093043: 43093044
584BRCA1NM_007294.3(BRCA1): c.2489_2492delAGTA (p.Lys830Ilefs)deletionPathogenicrs886040043GRCh38Chr 17, 43093039: 43093042
585BRCA1NM_007294.3(BRCA1): c.2490_2497dupGTATCCAT (p.Leu833Cysfs)duplicationPathogenicrs397508973GRCh37Chr 17, 41245051: 41245058
586BRCA1NM_007294.3(BRCA1): c.2501delG (p.Gly834Aspfs)deletionPathogenicrs886040044GRCh38Chr 17, 43093030: 43093030
587BRCA1NM_007294.3(BRCA1): c.2524dupG (p.Glu842Glyfs)duplicationPathogenicrs886040045GRCh37Chr 17, 41245024: 41245024
588BRCA1NM_007294.3(BRCA1): c.2524G> T (p.Glu842Ter)SNVPathogenicrs876658552GRCh38Chr 17, 43093007: 43093007
589BRCA1NM_007294.3(BRCA1): c.2529_2530delAA (p.Ser844Hisfs)deletionPathogenicrs886040046GRCh37Chr 17, 41245018: 41245019
590BRCA1NM_007294.3(BRCA1): c.2532_2536delCATAG (p.Ser844Argfs)deletionPathogenicrs886040047GRCh38Chr 17, 43092995: 43092999
591BRCA1NM_007294.3(BRCA1): c.2536G> T (p.Glu846Ter)SNVPathogenicrs786203523GRCh37Chr 17, 41245012: 41245012
592BRCA1NM_007294.3(BRCA1): c.2538_2540delAATinsG (p.Met847Glyfs)indelPathogenicrs886040048GRCh38Chr 17, 43092991: 43092993
593BRCA1NM_007294.3(BRCA1): c.2542_2545delGAAG (p.Glu848Lysfs)deletionPathogenicrs886040049GRCh38Chr 17, 43092986: 43092989
594BRCA1NM_007294.3(BRCA1): c.2551G> T (p.Glu851Ter)SNVPathogenicrs398122662GRCh37Chr 17, 41244997: 41244997
595BRCA1NM_007294.3(BRCA1): c.2552_2553delAA (p.Glu851Alafs)deletionPathogenicrs886040050GRCh37Chr 17, 41244995: 41244996
596BRCA1NM_007294.3(BRCA1): c.2552_2553dupAA (p.Leu852Asnfs)duplicationPathogenicrs886040051GRCh38Chr 17, 43092978: 43092979
597BRCA1NM_007294.3(BRCA1): c.2577_2578insTT (p.Thr860Leufs)insertionPathogenicrs886040052GRCh38Chr 17, 43092953: 43092954
598BRCA1NM_007294.3(BRCA1): c.2587delG (p.Val863Phefs)deletionPathogenicrs886040053GRCh38Chr 17, 43092944: 43092944
599BRCA1NM_007294.3(BRCA1): c.260T> A (p.Leu87Ter)SNVPathogenicrs886040054GRCh37Chr 17, 41256926: 41256926
600BRCA1NM_007294.3(BRCA1): c.2617delT (p.Ser873Glnfs)deletionPathogenicrs886040055GRCh38Chr 17, 43092914: 43092914
601BRCA1NM_007294.3(BRCA1): c.2637delA (p.Glu880Argfs)deletionPathogenicrs886040056GRCh37Chr 17, 41244911: 41244911
602BRCA1NM_007294.3(BRCA1): c.2648_2649insGGCA (p.Thr884Alafs)insertionPathogenicrs886040057GRCh37Chr 17, 41244899: 41244900
603BRCA1NM_007294.3(BRCA1): c.2649_2650delAA (p.Thr884Ilefs)deletionPathogenicrs886040058GRCh37Chr 17, 41244898: 41244899
604BRCA1NM_007294.3(BRCA1): c.2652dupA (p.Phe885Ilefs)duplicationPathogenicrs886040059GRCh38Chr 17, 43092879: 43092879
605BRCA1NM_007294.3(BRCA1): c.2675T> G (p.Leu892Ter)SNVPathogenicrs397508994GRCh37Chr 17, 41244873: 41244873
606BRCA1NM_007294.3(BRCA1): c.2678dupA (p.Lys894Glufs)duplicationPathogenicrs886040060GRCh37Chr 17, 41244870: 41244870
607BRCA1NM_007294.3(BRCA1): c.2683_2693delCAAAGTCCAAA (p.Gln895Serfs)deletionPathogenicrs886040061GRCh37Chr 17, 41244855: 41244865
608BRCA1NM_007294.3(BRCA1): c.2687_2693delGTCCAAA (p.Ser896Lysfs)deletionPathogenicrs886040062GRCh37Chr 17, 41244855: 41244861
609BRCA1NM_007294.3(BRCA1): c.2694delA (p.Val899Serfs)deletionPathogenicrs886040063GRCh37Chr 17, 41244854: 41244854
610BRCA1NM_007294.3(BRCA1): c.2704delG (p.Glu902Asnfs)deletionPathogenicrs886040064GRCh37Chr 17, 41244844: 41244844
611BRCA1NM_007294.3(BRCA1): c.2709_2710delTG (p.Cys903Terfs)deletionPathogenicrs886040065GRCh37Chr 17, 41244838: 41244839
612BRCA1NM_007294.3(BRCA1): c.2710delG (p.Glu904Asnfs)deletionPathogenicrs886040066GRCh37Chr 17, 41244838: 41244838
613BRCA1NM_007294.3(BRCA1): c.2750delT (p.Ile917Thrfs)deletionPathogenicrs886040067GRCh38Chr 17, 43092781: 43092781
614BRCA1NM_007294.3(BRCA1): c.2751delC (p.Lys918Serfs)deletionPathogenicrs886040068GRCh37Chr 17, 41244797: 41244797
615BRCA1NM_007294.3(BRCA1): c.2753_2755delAGCinsCA (p.Lys918Thrfs)indelPathogenicrs886040069GRCh38Chr 17, 43092776: 43092778
616BRCA1NM_007294.3(BRCA1): c.2776_2777delAC (p.Thr926Cysfs)deletionPathogenicrs886040070GRCh38Chr 17, 43092754: 43092755
617BRCA1NM_007294.3(BRCA1): c.2776_2777insTA (p.Thr926Ilefs)insertionPathogenicrs886040071GRCh38Chr 17, 43092754: 43092755
618BRCA1NM_007294.3(BRCA1): c.2778dupT (p.Ala927Cysfs)duplicationPathogenicrs886040072GRCh38Chr 17, 43092753: 43092753
619BRCA1NM_007294.3(BRCA1): c.2787_2788insTTATCACTGCAGGCTTT (p.Pro930Leufs)insertionPathogenicrs886040073GRCh37Chr 17, 41244760: 41244761
620BRCA1NM_007294.3(BRCA1): c.2814delA (p.Val939Leufs)deletionPathogenicrs886040074GRCh37Chr 17, 41244734: 41244734
621BRCA1NM_007294.3(BRCA1): c.2823delT (p.Asn941Lysfs)deletionPathogenicrs886040075GRCh37Chr 17, 41244725: 41244725
622BRCA1NM_007294.3(BRCA1): c.2843delG (p.Gly948Glufs)deletionPathogenicrs886040076GRCh37Chr 17, 41244705: 41244705
623BRCA1NM_007294.3(BRCA1): c.2850_2851insC (p.Arg951Glnfs)insertionPathogenicrs886040077GRCh38Chr 17, 43092680: 43092681
624BRCA1NM_007294.3(BRCA1): c.2850dupT (p.Arg951Terfs)duplicationPathogenicrs886040077GRCh38Chr 17, 43092681: 43092681
625BRCA1NM_007294.3(BRCA1): c.2861_2864delTATC (p.Leu954Hisfs)deletionPathogenicrs886040078GRCh38Chr 17, 43092667: 43092670
626BRCA1NM_007294.3(BRCA1): c.2861dupT (p.Ser955Ilefs)duplicationPathogenicrs886040079GRCh38Chr 17, 43092670: 43092670
627BRCA1NM_007294.3(BRCA1): c.2864C> G (p.Ser955Ter)SNVPathogenicrs80357295GRCh37Chr 17, 41244684: 41244684
628BRCA1NM_007294.3(BRCA1): c.2875delA (p.Arg959Glufs)deletionPathogenicrs886040080GRCh37Chr 17, 41244673: 41244673
629BRCA1NM_007294.3(BRCA1): c.2878_2879delGG (p.Gly960Glnfs)deletionPathogenicrs886040081GRCh37Chr 17, 41244669: 41244670
630BRCA1NM_007294.3(BRCA1): c.2882delA (p.Asn961Thrfs)deletionPathogenicrs886040082GRCh37Chr 17, 41244666: 41244666
631BRCA1NM_007294.3(BRCA1): c.2890G> T (p.Gly964Ter)SNVPathogenicrs879254027GRCh38Chr 17, 43092641: 43092641
632BRCA1NM_007294.3(BRCA1): c.2903_2904insTC (p.Asn969Glnfs)insertionPathogenicrs886040083GRCh37Chr 17, 41244644: 41244645
633BRCA1NM_007294.3(BRCA1): c.2906_2908delATAinsCT (p.Asn969Thrfs)indelPathogenicrs886040084GRCh38Chr 17, 43092623: 43092625
634BRCA1NM_007294.3(BRCA1): c.2906delA (p.Asn969Ilefs)deletionPathogenicrs886040085GRCh38Chr 17, 43092625: 43092625
635BRCA1NM_007294.3(BRCA1): c.2917_2920delCTTT (p.Leu973Tyrfs)deletionPathogenicrs886040086GRCh37Chr 17, 41244628: 41244631
636BRCA1NM_007294.3(BRCA1): c.2951_2952delTT (p.Phe984Serfs)deletionPathogenicrs886040087GRCh38Chr 17, 43092579: 43092580
637BRCA1NM_007294.3(BRCA1): c.2959A> T (p.Lys987Ter)SNVPathogenicrs878854941GRCh38Chr 17, 43092572: 43092572
638BRCA1NM_007294.3(BRCA1): c.2960dupA (p.Ser988Valfs)duplicationPathogenicrs886040088GRCh38Chr 17, 43092571: 43092571
639BRCA1NM_007294.3(BRCA1): c.2970delT (p.Thr992Leufs)deletionPathogenicrs886040089GRCh38Chr 17, 43092561: 43092561
640BRCA1NM_007294.3(BRCA1): c.2971A> T (p.Lys991Ter)SNVPathogenicrs886040090GRCh37Chr 17, 41244577: 41244577
641BRCA1NM_007294.3(BRCA1): c.2981delG (p.Cys994Leufs)deletionPathogenicrs886040091GRCh38Chr 17, 43092550: 43092550
642BRCA1NM_007294.3(BRCA1): c.3006_3009delCTTT (p.Asn1002Lysfs)deletionPathogenicrs886040092GRCh37Chr 17, 41244539: 41244542
643BRCA1NM_007294.3(BRCA1): c.3010G> T (p.Glu1004Ter)SNVPathogenicrs786202534GRCh37Chr 17, 41244538: 41244538
644BRCA1NM_007294.3(BRCA1): c.3020_3023delCAAT (p.Ser1007Cysfs)deletionPathogenicrs886040093GRCh38Chr 17, 43092508: 43092511
645BRCA1NM_007294.3(BRCA1): c.3024dupG (p.Ser1009Valfs)duplicationPathogenicrs886040094GRCh38Chr 17, 43092507: 43092507
646BRCA1NM_007294.3(BRCA1): c.303T> A (p.Tyr101Ter)SNVPathogenicrs80356936GRCh37Chr 17, 41256277: 41256277
647BRCA1NM_007294.3(BRCA1)insertionPathogenicrs886040095GRCh37Chr 17, 41244472: 41244473
648BRCA1NM_007294.3(BRCA1): c.3087_3100dupTAACATTAGAGAAA (p.Asn1034Ilefs)duplicationPathogenicrs80357967GRCh37Chr 17, 41244448: 41244461
649BRCA1NM_007294.3(BRCA1): c.3109_3110insT (p.Lys1037Ilefs)insertionPathogenicrs886040096GRCh38Chr 17, 43092421: 43092422
650BRCA1NM_007294.3(BRCA1): c.310delA (p.Ser104Alafs)deletionPathogenicrs886040097GRCh38Chr 17, 43104253: 43104253
651BRCA1NM_007294.3(BRCA1): c.3115delG (p.Ala1039Profs)deletionPathogenicrs886040098GRCh37Chr 17, 41244433: 41244433
652BRCA1NM_007294.3(BRCA1): c.3117_3120delCAGC (p.Ser1040Glnfs)deletionPathogenicrs886040099GRCh37Chr 17, 41244428: 41244431
653BRCA1NM_007294.3(BRCA1): c.3143delG (p.Gly1048Valfs)deletionPathogenicrs886040100GRCh37Chr 17, 41244405: 41244405
654BRCA1NM_007294.3(BRCA1): c.3150_3208dup59 (p.Ala1070Valfs)duplicationPathogenicGRCh38Chr 17, 43092323: 43092381
655BRCA1NM_007294.3(BRCA1): c.3182delT (p.Ile1061Lysfs)deletionPathogenicrs886040101GRCh38Chr 17, 43092349: 43092349
656BRCA1NM_007294.3(BRCA1): c.3203_3206delTTCA (p.Ile1068Lysfs)deletionPathogenicrs886040102GRCh37Chr 17, 41244342: 41244345
657BRCA1NM_007294.3(BRCA1): c.3205delC (p.Gln1069Lysfs)deletionPathogenicrs886040103GRCh37Chr 17, 41244343: 41244343
658BRCA1NM_007294.3(BRCA1): c.3210dupA (p.Glu1071Argfs)duplicationPathogenicrs886040104GRCh37Chr 17, 41244338: 41244338
659BRCA1NM_007294.3(BRCA1): c.3211_3212dupGA (p.Leu1072Asnfs)duplicationPathogenicrs886040105GRCh37Chr 17, 41244336: 41244337
660BRCA1NM_007294.3(BRCA1): c.3217_3218delGG (p.Gly1073Terfs)deletionPathogenicrs886040106GRCh37Chr 17, 41244330: 41244331
661BRCA1NM_007294.3(BRCA1): c.3243_3288dup46 (p.Ser1097Cysfs)duplicationPathogenicrs483353088GRCh37Chr 17, 41244260: 41244305
662BRCA1NM_007294.3(BRCA1): c.3258delA (p.Val1088Phefs)deletionPathogenicrs886040107GRCh37Chr 17, 41244290: 41244290
663BRCA1NM_007294.3(BRCA1): c.3262_3277del16 (p.Val1088Serfs)deletionPathogenicrs886040108GRCh38Chr 17, 43092254: 43092269
664BRCA1NM_007294.3(BRCA1): c.3266delT (p.Leu1089Cysfs)deletionPathogenicrs886040109GRCh37Chr 17, 41244282: 41244282
665BRCA1NM_007294.3(BRCA1): c.3266T> A (p.Leu1089Ter)SNVPathogenicrs886040110GRCh37Chr 17, 41244282: 41244282
666BRCA1NM_007294.3(BRCA1): c.3282T> G (p.Tyr1094Ter)SNVPathogenicrs886040111GRCh37Chr 17, 41244266: 41244266
667BRCA1NM_007294.3(BRCA1): c.330_331insA (p.Glu111Argfs)insertionPathogenicrs886040112GRCh38Chr 17, 43104232: 43104233
668BRCA1NM_007294.3(BRCA1): c.3308_3309insC (p.Lys1104Terfs)insertionPathogenicrs886040113GRCh37Chr 17, 41244239: 41244240
669BRCA1NM_007294.3(BRCA1): c.331delG (p.Glu111Lysfs)deletionPathogenicrs886040114GRCh37Chr 17, 41256249: 41256249
670BRCA1NM_007294.3(BRCA1): c.3331_3335delCAAGA (p.Gln1111Ilefs)deletionPathogenicrs886040115GRCh38Chr 17, 43092196: 43092200
671BRCA1NM_007294.3(BRCA1): c.3331delC (p.Gln1111Lysfs)deletionPathogenicrs886040116GRCh38Chr 17, 43092200: 43092200
672BRCA1NM_007294.3(BRCA1): c.3339_3341delTGA (p.Tyr1113_Ser1448delinsTer)deletionPathogenicrs886040117GRCh37Chr 17, 41244207: 41244209
673BRCA1NM_007294.3(BRCA1): c.3358_3368delGTTAATACAGA (p.Val1120Phefs)deletionPathogenicrs886040118GRCh37Chr 17, 41244180: 41244190
674BRCA1NM_007294.3(BRCA1): c.335delA (p.Asn112Ilefs)deletionPathogenicrs886040119GRCh37Chr 17, 41256245: 41256245
675BRCA1NM_007294.3(BRCA1): c.3360dupT (p.Asn1121Terfs)duplicationPathogenicrs886040120GRCh38Chr 17, 43092171: 43092171
676BRCA1NM_007294.3(BRCA1): c.3373dupT (p.Ser1125Phefs)duplicationPathogenicrs886040121GRCh37Chr 17, 41244175: 41244175
677BRCA1NM_007294.3(BRCA1): c.3381T> G (p.Tyr1127Ter)SNVPathogenicrs781319410GRCh37Chr 17, 41244167: 41244167
678BRCA1NM_007294.3(BRCA1): c.3384_3391delGATTTCAG (p.Ile1129Terfs)deletionPathogenicrs886040122GRCh38Chr 17, 43092140: 43092147
679BRCA1NM_007294.3(BRCA1): c.3388delT (p.Ser1130Glnfs)deletionPathogenicrs886040123GRCh37Chr 17, 41244160: 41244160
680BRCA1NM_007294.3(BRCA1): c.3395delA (p.Asn1132Thrfs)deletionPathogenicrs886040124GRCh37Chr 17, 41244153: 41244153
681BRCA1NM_007294.3(BRCA1): c.3396delC (p.Leu1133Terfs)deletionPathogenicrs886040125GRCh38Chr 17, 43092135: 43092135
682BRCA1NM_007294.3(BRCA1): c.3412G> T (p.Gly1138Ter)SNVPathogenicrs886040126GRCh38Chr 17, 43092119: 43092119
683BRCA1NM_007294.3(BRCA1): c.3413dupG (p.Ser1139Lysfs)duplicationPathogenicrs886040127GRCh37Chr 17, 41244135: 41244135
684BRCA1NM_007294.3(BRCA1): c.3416_3427delGTAGTCATGCATinsC (p.Ser1139Thrfs)indelPathogenicrs886040128GRCh37Chr 17, 41244121: 41244132
685BRCA1NM_007294.3(BRCA1): c.342delT (p.Pro115Leufs)deletionPathogenicrs886040129GRCh37Chr 17, 41256238: 41256238
686BRCA1NM_007294.3(BRCA1): c.3461T> G (p.Leu1154Ter)SNVPathogenicrs886040130GRCh37Chr 17, 41244087: 41244087
687BRCA1NM_007294.3(BRCA1): c.3478_3479delAA (p.Lys1160Glyfs)deletionPathogenicrs886040131GRCh38Chr 17, 43092052: 43092053
688BRCA1NM_007294.3(BRCA1): c.3479_3483delAGGAA (p.Lys1160Argfs)deletionPathogenicrs886040132GRCh37Chr 17, 41244065: 41244069
689BRCA1NM_007294.3(BRCA1): c.3482_3492delAAGATACTAGT (p.Glu1161Valfs)deletionPathogenicrs886040133GRCh38Chr 17, 43092039: 43092049
690BRCA1NM_007294.3(BRCA1): c.3485_3488delATAC (p.Asp1162Valfs)deletionPathogenicrs886040134GRCh37Chr 17, 41244060: 41244063
691BRCA1NM_007294.3(BRCA1): c.3485_3491delATACTAG (p.Asp1162Valfs)deletionPathogenicrs886040135GRCh38Chr 17, 43092040: 43092046
692BRCA1NM_007294.3(BRCA1): c.3489_3499delTAGTTTTGCTG (p.Ser1164Lysfs)deletionPathogenicrs886040136GRCh38Chr 17, 43092032: 43092042
693BRCA1NM_007294.3(BRCA1): c.3498delT (p.Glu1167Lysfs)deletionPathogenicrs886040137GRCh37Chr 17, 41244050: 41244050
694BRCA1NM_007294.3(BRCA1): c.3504_3505insA (p.Asp1169Argfs)insertionPathogenicrs886040138GRCh38Chr 17, 43092026: 43092027
695BRCA1NM_007294.3(BRCA1): c.3512delA (p.Lys1171Argfs)deletionPathogenicrs886040139GRCh37Chr 17, 41244036: 41244036
696BRCA1NM_007294.3(BRCA1): c.3534delC (p.Ser1178Argfs)deletionPathogenicrs886040140GRCh37Chr 17, 41244014: 41244014
697BRCA1NM_007294.3(BRCA1): c.3541_3542delGT (p.Val1181Profs)deletionPathogenicrs886040141GRCh37Chr 17, 41244006: 41244007
698BRCA1NM_007294.3(BRCA1): c.355A> T (p.Lys119Ter)SNVPathogenicrs886040142GRCh37Chr 17, 41256225: 41256225
699BRCA1NM_007294.3(BRCA1): c.3564dupG (p.Ser1189Glufs)duplicationPathogenicrs886040143GRCh37Chr 17, 41243984: 41243984
700BRCA1NM_007294.3(BRCA1): c.357_358delAGinsT (p.Lys119Asnfs)indelPathogenicrs886040144GRCh37Chr 17, 41256222: 41256223
701BRCA1NM_007294.3(BRCA1): c.3571delA (p.Ser1191Alafs)deletionPathogenicrs886040145GRCh38Chr 17, 43091960: 43091960
702BRCA1NM_007294.3(BRCA1): c.3582_3589delCCATACAC (p.His1195Phefs)deletionPathogenicrs886040146GRCh37Chr 17, 41243959: 41243966
703BRCA1NM_007294.3(BRCA1): c.3583_3590delCATACACA (p.His1195Phefs)deletionPathogenicrs886040147GRCh37Chr 17, 41243958: 41243965
704BRCA1NM_007294.3(BRCA1): c.3587dupC (p.His1197Thrfs)duplicationPathogenicrs886040148GRCh37Chr 17, 41243961: 41243961
705BRCA1NM_007294.3(BRCA1): c.36_39delAAAT (p.Asn13Serfs)deletionPathogenicrs886040149GRCh37Chr 17, 41276075: 41276078
706BRCA1NM_007294.3(BRCA1): c.3604delT (p.Tyr1202Thrfs)deletionPathogenicrs886040150GRCh38Chr 17, 43091927: 43091927
707BRCA1NM_007294.3(BRCA1): c.3605dupA (p.Tyr1202Terfs)duplicationPathogenicrs886040151GRCh38Chr 17, 43091926: 43091926
708BRCA1NM_007294.3(BRCA1): c.361dupG (p.Glu121Glyfs)duplicationPathogenicrs886040152GRCh37Chr 17, 41256219: 41256219
709BRCA1NM_007294.3(BRCA1): c.3625_3626insA (p.Leu1209Tyrfs)insertionPathogenicrs886040153GRCh38Chr 17, 43091905: 43091906
710BRCA1NM_007294.3(BRCA1): c.363_364delAG (p.Glu121Aspfs)deletionPathogenicrs886040155GRCh37Chr 17, 41256216: 41256217
711BRCA1NM_007294.3(BRCA1): c.3631_3634delTCCT (p.Ser1211Glnfs)deletionPathogenicrs886040156GRCh37Chr 17, 41243914: 41243917
712BRCA1NM_007294.3(BRCA1): c.3651dupT (p.Ser1218Terfs)duplicationPathogenicrs886040157GRCh37Chr 17, 41243897: 41243897
713BRCA1NM_007294.3(BRCA1): c.3669delT (p.Cys1225Alafs)deletionPathogenicrs886040158GRCh38Chr 17, 43091862: 43091862
714BRCA1NM_007294.3(BRCA1): c.3679C> T (p.Gln1227Ter)SNVPathogenicrs886040159GRCh38Chr 17, 43091852: 43091852
715BRCA1NM_007294.3(BRCA1): c.372delC (p.Ile125Serfs)deletionPathogenicrs886040160GRCh37Chr 17, 41256208: 41256208
716BRCA1NM_007294.3(BRCA1): c.3731_3738delATAGCACC (p.His1244Argfs)deletionPathogenicrs886040161GRCh38Chr 17, 43091793: 43091800
717BRCA1NM_007294.3(BRCA1): c.3731_3743delATAGCACCGTTGC (p.His1244Leufs)deletionPathogenicrs886040162GRCh37Chr 17, 41243805: 41243817
718BRCA1NM_007294.3(BRCA1): c.3750delG (p.Glu1250Aspfs)deletionPathogenicrs886040163GRCh37Chr 17, 41243798: 41243798
719BRCA1NM_007294.3(BRCA1): c.3756_3760delGTCTA (p.Ser1253Glufs)deletionPathogenicrs886040164GRCh37Chr 17, 41243788: 41243792
720BRCA1NM_007294.3(BRCA1): c.3765delC (p.Asn1255Lysfs)deletionPathogenicrs886040165GRCh37Chr 17, 41243783: 41243783
721BRCA1NM_007294.3(BRCA1): c.3810C> A (p.Cys1270Ter)SNVPathogenicrs886040166GRCh38Chr 17, 43091721: 43091721
722BRCA1NM_007294.3(BRCA1): c.3821dupT (p.Ile1275Asnfs)duplicationPathogenicrs886040167GRCh37Chr 17, 41243727: 41243727
723BRCA1NM_007294.3(BRCA1): c.3837_3840delATCT (p.Ser1280Argfs)deletionPathogenicrs886040168GRCh38Chr 17, 43091691: 43091694
724BRCA1NM_007294.3(BRCA1): c.3839_3843delCTCAG (p.Ser1280Terfs)deletionPathogenicrs886040169GRCh38Chr 17, 43091688: 43091692
725BRCA1NM_007294.3(BRCA1): c.3840_3850delTCAGGAACATC (p.Gln1281Profs)deletionPathogenicrs886040170GRCh38Chr 17, 43091681: 43091691
726BRCA1NM_007294.3(BRCA1): c.385_386delGGinsC (p.Gly129Profs)indelPathogenicrs886040171GRCh38Chr 17, 43104177: 43104178
727BRCA1NM_007294.3(BRCA1): c.3851_3852dupAC (p.Leu1285Thrfs)duplicationPathogenicrs397507221GRCh38Chr 17, 43091679: 43091680
728BRCA1NM_007294.3(BRCA1): c.3862G> T (p.Glu1288Ter)SNVPathogenicrs876659708GRCh38Chr 17, 43091669: 43091669
729BRCA1NM_007294.3(BRCA1): c.3885delG (p.Leu1295Phefs)deletionPathogenicrs886040172GRCh37Chr 17, 41243663: 41243663
730BRCA1NM_007294.3(BRCA1): c.3907_3908delTTinsGGA (p.Leu1303Glyfs)indelPathogenicrs886040173GRCh38Chr 17, 43091623: 43091624
731BRCA1NM_007294.3(BRCA1): c.3908_3909dupTG (p.Glu1304Trpfs)duplicationPathogenicrs886040174GRCh38Chr 17, 43091622: 43091623
732BRCA1NM_007294.3(BRCA1): c.3917delT (p.Leu1306Terfs)deletionPathogenicrs886040175GRCh38Chr 17, 43091614: 43091614
733BRCA1NM_007294.3(BRCA1): c.3928dupA (p.Thr1310Asnfs)duplicationPathogenicrs886040176GRCh37Chr 17, 41243620: 41243620
734BRCA1NM_007294.3(BRCA1): c.3947_3950delTCTT (p.Phe1316Terfs)deletionPathogenicrs886040177GRCh37Chr 17, 41243598: 41243601
735BRCA1NM_007294.3(BRCA1): c.3952_3955delATTG (p.Ile1318Valfs)deletionPathogenicrs886040178GRCh38Chr 17, 43091576: 43091579
736BRCA1NM_007294.3(BRCA1): c.3959delC (p.Ser1320Phefs)deletionPathogenicrs886040179GRCh38Chr 17, 43091572: 43091572
737BRCA1NM_007294.3(BRCA1): c.3961delT (p.Ser1321Profs)deletionPathogenicrs886040180GRCh38Chr 17, 43091570: 43091570
738BRCA1NM_007294.3(BRCA1): c.3968_3971delAAAT (p.Gln1323Argfs)deletionPathogenicrs886040181GRCh38Chr 17, 43091560: 43091563
739BRCA1NM_007294.3(BRCA1): c.3972_3974delGAGinsAA (p.Met1324Ilefs)indelPathogenicrs886040182GRCh38Chr 17, 43091557: 43091559
740BRCA1NM_007294.3(BRCA1): c.3985_3987delGAAinsTTTC (p.Glu1329Phefs)indelPathogenicrs886040183GRCh38Chr 17, 43091544: 43091546
741BRCA1NM_007294.3(BRCA1): c.3990_3993delCCAG (p.Ser1330Argfs)deletionPathogenicrs886040184GRCh38Chr 17, 43091538: 43091541
742BRCA1NM_007294.3(BRCA1): c.3995_4001delGAGTTGG (p.Gly1332Valfs)deletionPathogenicrs886040185GRCh38Chr 17, 43091530: 43091536
743BRCA1NM_007294.3(BRCA1): c.40_41delGT (p.Val14Hisfs)deletionPathogenicrs886040186GRCh38Chr 17, 43124056: 43124057
744BRCA1NM_007294.3(BRCA1): c.4016_4017insTT (p.Glu1339Aspfs)insertionPathogenicrs886040187GRCh37Chr 17, 41243531: 41243532
745BRCA1NM_007294.3(BRCA1): c.4033G> T (p.Glu1345Ter)SNVPathogenicrs886040188GRCh37Chr 17, 41243515: 41243515
746BRCA1NM_007294.3(BRCA1): c.4036delG (p.Glu1346Lysfs)deletionPathogenicrs886040189GRCh38Chr 17, 43091495: 43091495
747BRCA1NM_007294.3(BRCA1): c.4039dupA (p.Arg1347Lysfs)duplicationPathogenicrs886040190GRCh37Chr 17, 41243509: 41243509
748BRCA1NM_007294.3(BRCA1): c.4042G> T (p.Gly1348Ter)SNVPathogenicrs886040191GRCh38Chr 17, 43091489: 43091489
749BRCA1NM_007294.3(BRCA1): c.4062_4066delTAATC (p.Asn1354Lysfs)deletionPathogenicrs886040192GRCh38Chr 17, 43091465: 43091469
750BRCA1NM_007294.3(BRCA1): c.4066C> T (p.Gln1356Ter)SNVPathogenicrs886040193GRCh37Chr 17, 41243482: 41243482
751BRCA1NM_007294.3(BRCA1): c.4066delC (p.Gln1356Lysfs)deletionPathogenicrs886040194GRCh37Chr 17, 41243482: 41243482
752BRCA1NM_007294.3(BRCA1): c.4069G> T (p.Glu1357Ter)SNVPathogenicrs886040195GRCh38Chr 17, 43091462: 43091462
753BRCA1NM_007294.3(BRCA1): c.406delA (p.Arg136Aspfs)deletionPathogenicrs886040196GRCh38Chr 17, 43104157: 43104157
754BRCA1NM_007294.3(BRCA1): c.4071delA (p.Glu1358Serfs)deletionPathogenicrs886040197GRCh37Chr 17, 41243477: 41243477
755BRCA1NM_007294.3(BRCA1): c.4074_4090del17 (p.Gln1359Leufs)deletionPathogenicrs886040198GRCh38Chr 17, 43091441: 43091457
756BRCA1NM_007294.3(BRCA1): c.4079delG (p.Ser1360Thrfs)deletionPathogenicrs886040199GRCh38Chr 17, 43091452: 43091452
757BRCA1NM_007294.3(BRCA1): c.407delG (p.Arg136Asnfs)deletionPathogenicrs886040200GRCh37Chr 17, 41256173: 41256173
758BRCA1NM_007294.3(BRCA1): c.40delG (p.Val14Serfs)deletionPathogenicrs886040201GRCh38Chr 17, 43124057: 43124057
759BRCA1NM_007294.3(BRCA1): c.4107_4108insATCT (p.Ser1370Ilefs)insertionPathogenicrs886040202GRCh37Chr 17, 41243038: 41243039
760BRCA1NM_007294.3(BRCA1): c.411_414delTCTA (p.Leu138Argfs)deletionPathogenicrs886040203GRCh38Chr 17, 43104149: 43104152
761BRCA1NM_007294.3(BRCA1): c.4116delT (p.Cys1372Trpfs)deletionPathogenicrs886040204GRCh37Chr 17, 41243030: 41243030
762BRCA1NM_007294.3(BRCA1): c.411delT (p.Leu138Tyrfs)deletionPathogenicrs886040205GRCh37Chr 17, 41256169: 41256169
763BRCA1NM_007294.3(BRCA1): c.4126_4129delACAA (p.Thr1376Alafs)deletionPathogenicrs886040206GRCh38Chr 17, 43091000: 43091003
764BRCA1NM_007294.3(BRCA1): c.4127delC (p.Thr1376Lysfs)deletionPathogenicrs886040207GRCh38Chr 17, 43091002: 43091002
765BRCA1NM_007294.3(BRCA1): c.4129delA (p.Ser1377Alafs)deletionPathogenicrs886040208GRCh37Chr 17, 41243017: 41243017
766BRCA1NM_007294.3(BRCA1): c.4137_4138delTG (p.Glu1380Argfs)deletionPathogenicrs886040209GRCh37Chr 17, 41243008: 41243009
767BRCA1NM_007294.3(BRCA1): c.4146_4155dupCTCAGGGCTA (p.Ser1386Leufs)duplicationPathogenicrs483353079GRCh37Chr 17, 41242991: 41243000
768BRCA1NM_007294.3(BRCA1): c.4162_4163delCA (p.Gln1388Glufs)deletionPathogenicrs886040210GRCh38Chr 17, 43090966: 43090967
769BRCA1NM_007294.3(BRCA1): c.4175delT (p.Leu1392Terfs)deletionPathogenicrs886040211GRCh37Chr 17, 41242971: 41242971
770BRCA1NM_007294.3(BRCA1): c.418dupA (p.Ser140Lysfs)duplicationPathogenicrs886040212GRCh37Chr 17, 41256162: 41256162
771BRCA1NM_007294.3(BRCA1): c.4197delC (p.Met1400Cysfs)deletionPathogenicrs886040213GRCh37Chr 17, 41234581: 41234581
772BRCA1NM_007294.3(BRCA1): c.4205delA (p.His1402Leufs)deletionPathogenicrs886040214GRCh38Chr 17, 43082556: 43082556
773BRCA1NM_007294.3(BRCA1): c.4206_4207delTA (p.His1402Glnfs)deletionPathogenicrs886040215GRCh38Chr 17, 43082554: 43082555
774BRCA1NM_007294.3(BRCA1): c.4216A> T (p.Lys1406Ter)SNVPathogenicrs886040216GRCh37Chr 17, 41234562: 41234562
775BRCA1NM_007294.3(BRCA1): c.4218delG (p.Lys1406Asnfs)deletionPathogenicrs886040217GRCh37Chr 17, 41234560: 41234560
776BRCA1NM_007294.3(BRCA1): c.4225C> T (p.Gln1409Ter)SNVPathogenicrs886040218GRCh37Chr 17, 41234553: 41234553
777BRCA1NM_007294.3(BRCA1): c.4239delA (p.Glu1413Aspfs)deletionPathogenicrs886040219GRCh37Chr 17, 41234539: 41234539
778BRCA1NM_007294.3(BRCA1): c.4255G> T (p.Glu1419Ter)SNVPathogenicrs80357309GRCh37Chr 17, 41234523: 41234523
779BRCA1NM_007294.3(BRCA1): c.4270C> T (p.Gln1424Ter)SNVPathogenicrs886040220GRCh38Chr 17, 43082491: 43082491
780BRCA1NM_007294.3(BRCA1): c.4284_4285delCTinsG (p.Ser1428Argfs)indelPathogenicrs886040221GRCh38Chr 17, 43082476: 43082477
781BRCA1NM_007294.3(BRCA1): c.4285dupT (p.Tyr1429Leufs)duplicationPathogenicrs80357716GRCh37Chr 17, 41234493: 41234493
782BRCA1NM_007294.3(BRCA1): c.4290_4296delTTCCATC (p.Ser1431Terfs)deletionPathogenicrs886040222GRCh37Chr 17, 41234482: 41234488
783BRCA1NM_007294.3(BRCA1): c.4309delT (p.Ser1437Leufs)deletionPathogenicrs886040223GRCh37Chr 17, 41234469: 41234469
784BRCA1NM_007294.3(BRCA1): c.431dupA (p.Asn144Lysfs)duplicationPathogenicrs886040224GRCh38Chr 17, 43104132: 43104132
785BRCA1NM_007294.3(BRCA1): c.4342dupA (p.Ser1448Lysfs)duplicationPathogenicrs886040225GRCh37Chr 17, 41234436: 41234436
786BRCA1NM_007294.3(BRCA1): c.4349C> G (p.Ser1450Ter)SNVPathogenicrs886040226GRCh37Chr 17, 41234429: 41234429
787BRCA1NM_007294.3(BRCA1): c.4364T> G (p.Leu1455Ter)SNVPathogenicrs886040227GRCh38Chr 17, 43076608: 43076608
788BRCA1NM_007294.3(BRCA1): c.4375A> T (p.Lys1459Ter)SNVPathogenicrs886040228GRCh38Chr 17, 43076597: 43076597
789BRCA1NM_007294.3(BRCA1): c.4397_4398insA (p.Ser1466Argfs)insertionPathogenicrs886040229GRCh37Chr 17, 41228591: 41228592
790BRCA1NM_007294.3(BRCA1): c.4408G> T (p.Glu1470Ter)SNVPathogenicrs886040230GRCh38Chr 17, 43076564: 43076564
791BRCA1NM_007294.3(BRCA1): c.4417delT (p.Ser1473Leufs)deletionPathogenicrs886040231GRCh37Chr 17, 41228572: 41228572
792BRCA1NM_007294.3(BRCA1): c.4453_4474del22 (p.Thr1485Glufs)deletionPathogenicrs886040232GRCh38Chr 17, 43076498: 43076519
793BRCA1NM_007294.3(BRCA1): c.4503C> A (p.Cys1501Ter)SNVPathogenicrs747539984GRCh38Chr 17, 43074503: 43074503
794BRCA1NM_007294.3(BRCA1): c.4527C> A (p.Tyr1509Ter)SNVPathogenicrs886040233GRCh38Chr 17, 43074479: 43074479
795BRCA1NM_007294.3(BRCA1): c.4566C> A (p.Tyr1522Ter)SNVPathogenicrs886040234GRCh38Chr 17, 43074440: 43074440
796BRCA1NM_007294.3(BRCA1): c.4566C> G (p.Tyr1522Ter)SNVPathogenicrs886040234GRCh37Chr 17, 41226457: 41226457
797BRCA1NM_007294.3(BRCA1): c.4569_4570insCC (p.Ser1524Profs)insertionPathogenicrs886040235GRCh38Chr 17, 43074436: 43074437
798BRCA1NM_007294.3(BRCA1): c.4569_4572delATCT (p.Ser1524Lysfs)deletionPathogenicrs886040236GRCh37Chr 17, 41226451: 41226454
799BRCA1NM_007294.3(BRCA1): c.4573C> T (p.Gln1525Ter)SNVPathogenicrs886040237GRCh37Chr 17, 41226450: 41226450
800BRCA1NM_007294.3(BRCA1): c.4591delG (p.Val1531Leufs)deletionPathogenicrs886040238GRCh38Chr 17, 43074415: 43074415
801BRCA1NM_007294.3(BRCA1): c.4593dupT (p.Val1532Cysfs)duplicationPathogenicrs886040239GRCh38Chr 17, 43074413: 43074413
802BRCA1NM_007294.3(BRCA1): c.4618_4621delGAAGinsAAA (p.Glu1540Lysfs)indelPathogenicrs886040240GRCh38Chr 17, 43074385: 43074388
803BRCA1NM_007294.3(BRCA1): c.4622_4623delAG (p.Glu1541Valfs)deletionPathogenicrs886040241GRCh38Chr 17, 43074383: 43074384
804BRCA1NM_007294.3(BRCA1): c.4668dupA (p.Asp1557Argfs)duplicationPathogenicrs886040242GRCh38Chr 17, 43074338: 43074338
805BRCA1NM_007294.3(BRCA1): c.4688dupA (p.Tyr1563Terfs)duplicationPathogenicrs886040243GRCh37Chr 17, 41223243: 41223243
806BRCA1NM_007294.3(BRCA1): c.4699_4708delGGAATCAGCC (p.Gly1567Serfs)deletionPathogenicrs886040244GRCh37Chr 17, 41223223: 41223232
807BRCA1NM_007294.3(BRCA1): c.4700_4710delGAATCAGCCTCinsA (p.Gly1567Aspfs)indelPathogenicrs886040245GRCh38Chr 17, 43071204: 43071214
808BRCA1NM_007294.3(BRCA1): c.4743delA (p.Asp1582Thrfs)deletionPathogenicrs886040246GRCh37Chr 17, 41223188: 41223188
809BRCA1NM_007294.3(BRCA1): c.4758_4759insA (p.Ser1587Ilefs)insertionPathogenicrs886040247GRCh38Chr 17, 43071155: 43071156
810BRCA1NM_007294.3(BRCA1): c.4784delC (p.Ser1595Phefs)deletionPathogenicrs886040248GRCh37Chr 17, 41223147: 41223147
811BRCA1NM_007294.3(BRCA1): c.4834delC (p.Gln1612Argfs)deletionPathogenicrs886040249GRCh38Chr 17, 43071080: 43071080
812BRCA1NM_007294.3(BRCA1): c.485_486dupTG (p.Arg163Terfs)duplicationPathogenicrs886040250GRCh38Chr 17, 43099836: 43099837
813BRCA1NM_007294.3(BRCA1): c.4860_4941del82 (p.Asp1621Lysfs)deletionPathogenicGRCh38Chr 17, 43070973: 43071054
814BRCA1NM_007294.3(BRCA1): c.4875T> A (p.Tyr1625Ter)SNVPathogenicrs886040251GRCh38Chr 17, 43071039: 43071039
815BRCA1NM_007294.3(BRCA1): c.4877delA (p.Asn1626Metfs)deletionPathogenicrs886040252GRCh38Chr 17, 43071037: 43071037
816BRCA1NM_007294.3(BRCA1): c.4878dupT (p.Ala1627Cysfs)duplicationPathogenicrs886040253GRCh37Chr 17, 41223053: 41223053
817BRCA1NM_007294.3(BRCA1): c.4885dupG (p.Glu1629Glyfs)duplicationPathogenicrs886040254GRCh38Chr 17, 43071029: 43071029
818BRCA1NM_007294.3(BRCA1): c.4887_4893delAGAAAGT (p.Glu1630Terfs)deletionPathogenicrs886040255GRCh37Chr 17, 41223038: 41223044
819BRCA1NM_007294.3(BRCA1): c.4891delA (p.Ser1631Valfs)deletionPathogenicrs886040256GRCh37Chr 17, 41223040: 41223040
820BRCA1NM_007294.3(BRCA1): c.4921delG (p.Ala1641Leufs)deletionPathogenicrs886040257GRCh37Chr 17, 41223010: 41223010
821BRCA1NM_007294.3(BRCA1): c.4987_5074del88 (p.Val1665Serfs)deletionPathogenicGRCh38Chr 17, 43067608: 43067695
822BRCA1NM_007294.3(BRCA1): c.4995_5007dupGTACAAGTTTGCC (p.Arg1670Valfs)duplicationPathogenicrs483353097GRCh38Chr 17, 43067675: 43067687
823BRCA1NM_007294.3(BRCA1): c.500_501delCA (p.Thr167Lysfs)deletionPathogenicrs886040258GRCh37Chr 17, 41251838: 41251839
824BRCA1NM_007294.3(BRCA1): c.5013dupA (p.His1672Thrfs)duplicationPathogenicrs886040259GRCh38Chr 17, 43067669: 43067669
825BRCA1NM_007294.3(BRCA1): c.5019delC (p.His1673Glnfs)deletionPathogenicrs886040260GRCh37Chr 17, 41219680: 41219680
826BRCA1NM_007294.3(BRCA1): c.5026_5027delTT (p.Leu1676Asnfs)deletionPathogenicrs886040261GRCh38Chr 17, 43067655: 43067656
827BRCA1NM_007294.3(BRCA1): c.5027delT (p.Leu1676Terfs)deletionPathogenicrs886040262GRCh38Chr 17, 43067655: 43067655
828BRCA1NM_007294.3(BRCA1): c.5027T> A (p.Leu1676Ter)SNVPathogenicrs786203754GRCh38Chr 17, 43067655: 43067655
829BRCA1NM_007294.3(BRCA1): c.502A> T (p.Lys168Ter)SNVPathogenicrs886040263GRCh37Chr 17, 41251837: 41251837
830BRCA1NM_007294.3(BRCA1): c.5030_5033dupCTAA (p.Leu1679Terfs)duplicationPathogenicrs483353098GRCh37Chr 17, 41219666: 41219669
831BRCA1NM_007294.3(BRCA1): c.5038_5041dupATTA (p.Thr1681Asnfs)duplicationPathogenicrs886040264GRCh37Chr 17, 41219658: 41219661
832BRCA1NM_007294.3(BRCA1): c.5041_5042insTTAA (p.Thr1681Ilefs)insertionPathogenicrs886040264GRCh38Chr 17, 43067640: 43067641
833BRCA1NM_007294.3(BRCA1): c.5042delC (p.Thr1681Metfs)deletionPathogenicrs886040265GRCh38Chr 17, 43067640: 43067640
834BRCA1NM_007294.3(BRCA1): c.5044_5048delGAAGAinsT (p.Glu1682Terfs)indelPathogenicrs886040266GRCh38Chr 17, 43067634: 43067638
835BRCA1NM_007294.3(BRCA1): c.5058_5059insCAAC (p.Val1687Glnfs)insertionPathogenicrs886040267GRCh38Chr 17, 43067623: 43067624
836BRCA1NM_007294.3(BRCA1): c.5065dupA (p.Met1689Asnfs)duplicationPathogenicrs886040268GRCh37Chr 17, 41219634: 41219634
837BRCA1NM_007294.3(BRCA1): c.5076delT (p.Asp1692Glufs)deletionPathogenicrs886040269GRCh38Chr 17, 43063950: 43063950
838BRCA1NM_007294.3(BRCA1): c.5083_5084insG (p.Phe1695Cysfs)insertionPathogenicrs886040270GRCh38Chr 17, 43063942: 43063943
839BRCA1NM_007294.3(BRCA1): c.5114_5121delTAGGAATT (p.Leu1705Argfs)deletionPathogenicrs886040271GRCh37Chr 17, 41215922: 41215929
840BRCA1NM_007294.3(BRCA1): c.5131A> T (p.Lys1711Ter)SNVPathogenicrs886040272GRCh38Chr 17, 43063895: 43063895
841BRCA1NM_007294.3(BRCA1): c.5148T> A (p.Tyr1716Ter)SNVPathogenicrs397509230GRCh37Chr 17, 41215895: 41215895
842BRCA1NM_007294.3(BRCA1): c.5155dupG (p.Val1719Glyfs)duplicationPathogenicrs886040273GRCh38Chr 17, 43063371: 43063371
843BRCA1NM_007294.3(BRCA1): c.5161_5165delCAGTC (p.Gln1721Tyrfs)deletionPathogenicrs886040274GRCh37Chr 17, 41215378: 41215382
844BRCA1NM_007294.3(BRCA1): c.5161C> T (p.Gln1721Ter)SNVPathogenicrs878854957GRCh37Chr 17, 41215382: 41215382
845BRCA1NM_007294.3(BRCA1): c.5163_5164insC (p.Ser1722Leufs)insertionPathogenicrs886040275GRCh38Chr 17, 43063362: 43063363
846BRCA1NM_007294.3(BRCA1): c.518delC (p.Pro173Leufs)deletionPathogenicrs886040276GRCh38Chr 17, 43099804: 43099804
847BRCA1NM_007294.3(BRCA1): c.5208_5247del40insTC (p.Arg1737Glnfs)indelPathogenicrs886040277GRCh37Chr 17, 41209099: 41209138
848BRCA1NM_007294.3(BRCA1): c.5209dupA (p.Arg1737Lysfs)duplicationPathogenicrs886040278GRCh37Chr 17, 41209137: 41209137
849BRCA1NM_007294.3(BRCA1): c.5212G> T (p.Gly1738Ter)SNVPathogenicrs80356937GRCh38Chr 17, 43057117: 43057117
850BRCA1NM_007294.3(BRCA1): c.5213delG (p.Gly1738Glufs)deletionPathogenicrs886040279GRCh38Chr 17, 43057116: 43057116
851BRCA1NM_007294.3(BRCA1): c.5221_5224delGTCA (p.Val1741Metfs)deletionPathogenicrs886040280GRCh37Chr 17, 41209122: 41209125
852BRCA1NM_007294.3(BRCA1): c.5230_5237delAGAAACCA (p.Arg1744Profs)deletionPathogenicrs886040281GRCh38Chr 17, 43057092: 43057099
853BRCA1NM_007294.3(BRCA1): c.5239delC (p.Gln1747Lysfs)deletionPathogenicrs886040282GRCh38Chr 17, 43057090: 43057090
854BRCA1NM_007294.3(BRCA1): c.5239dupC (p.Gln1747Profs)duplicationPathogenicrs886040283GRCh38Chr 17, 43057090: 43057090
855BRCA1NM_007294.3(BRCA1): c.5267_5268insC (p.Gln1756Hisfs)insertionPathogenicrs886040284GRCh37Chr 17, 41209078: 41209079
856BRCA1NM_007294.3(BRCA1): c.5282delT (p.Phe1761Serfs)deletionPathogenicrs886040285GRCh37Chr 17, 41203130: 41203130
857BRCA1NM_007294.3(BRCA1): c.5299delT (p.Cys1767Valfs)deletionPathogenicrs886040286GRCh37Chr 17, 41203113: 41203113
858BRCA1NM_007294.3(BRCA1): c.5300_5301delGT (p.Cys1767Leufs)deletionPathogenicrs886040287GRCh37Chr 17, 41203111: 41203112
859BRCA1NM_007294.3(BRCA1): c.5301T> A (p.Cys1767Ter)SNVPathogenicrs886040288GRCh37Chr 17, 41203111: 41203111
860BRCA1NM_007294.3(BRCA1): c.5302delT (p.Cys1768Alafs)deletionPathogenicrs886040289GRCh38Chr 17, 43051093: 43051093
861BRCA1NM_007294.3(BRCA1): c.531delT (p.Val178Serfs)deletionPathogenicrs886040290GRCh38Chr 17, 43099791: 43099791
862BRCA1NM_007294.3(BRCA1): c.5341_5343delGAAinsTG (p.Glu1781Cysfs)indelPathogenicrs886040291GRCh38Chr 17, 43049184: 43049186
863BRCA1NM_007294.3(BRCA1): c.5348delT (p.Met1783Argfs)deletionPathogenicrs886040292GRCh38Chr 17, 43049179: 43049179
864BRCA1NM_007294.3(BRCA1): c.5353_5354dupCA (p.Gln1785Hisfs)duplicationPathogenicrs886040293GRCh38Chr 17, 43049173: 43049174
865BRCA1NM_007294.3(BRCA1): c.5361_5362delTG (p.Cys1787Trpfs)deletionPathogenicrs886040294GRCh38Chr 17, 43049165: 43049166
866BRCA1NM_007294.3(BRCA1): c.5389dupT (p.Ser1797Phefs)duplicationPathogenicrs886040295GRCh37Chr 17, 41201155: 41201155
867BRCA1NM_007294.3(BRCA1): c.5390C> G (p.Ser1797Ter)SNVPathogenicrs879255492GRCh37Chr 17, 41201154: 41201154
868BRCA1NM_007294.3(BRCA1): c.5419dupA (p.Ile1807Asnfs)duplicationPathogenicrs886040296GRCh37Chr 17, 41199708: 41199708
869BRCA1NM_007294.3(BRCA1): c.5486_5510del25 (p.Glu1829Glyfs)deletionPathogenicrs886040297GRCh38Chr 17, 43045760: 43045784
870BRCA1NM_007294.3(BRCA1): c.5493_5494insTT (p.Val1832Leufs)insertionPathogenicrs886040298GRCh38Chr 17, 43045776: 43045777
871BRCA1NM_007294.3(BRCA1): c.5502_5503dupCC (p.Arg1835Profs)duplicationPathogenicrs886040299GRCh37Chr 17, 41197784: 41197785
872BRCA1NM_007294.3(BRCA1): c.5503_5506delCGAG (p.Arg1835Serfs)deletionPathogenicrs886040300GRCh38Chr 17, 43045764: 43045767
873BRCA1NM_007294.3(BRCA1): c.5503dupC (p.Arg1835Profs)duplicationPathogenicrs886040299GRCh38Chr 17, 43045767: 43045767
874BRCA1NM_007294.3(BRCA1): c.5535C> G (p.Tyr1845Ter)SNVPathogenicrs80356977GRCh38Chr 17, 43045735: 43045735
875BRCA1NM_007294.3(BRCA1): c.5536delC (p.Gln1846Serfs)deletionPathogenicrs886040301GRCh38Chr 17, 43045734: 43045734
876BRCA1NM_007294.3(BRCA1): c.5537_5556del20 (p.Gln1846Leufs)deletionPathogenicrs886040302GRCh37Chr 17, 41197731: 41197750
877BRCA1NM_007294.3(BRCA1): c.5542C> T (p.Gln1848Ter)SNVPathogenicrs886040303GRCh38Chr 17, 43045728: 43045728
878BRCA1NM_007294.3(BRCA1): c.5551delG (p.Asp1851Thrfs)deletionPathogenicrs886040304GRCh38Chr 17, 43045719: 43045719
879BRCA1NM_007294.3(BRCA1): c.5556_5560delCTACC (p.Tyr1853Aspfs)deletionPathogenicrs886040305GRCh38Chr 17, 43045710: 43045714
880BRCA1NM_007294.3(BRCA1): c.5560delC (p.Leu1854Terfs)deletionPathogenicrs886040306GRCh38Chr 17, 43045710: 43045710
881BRCA1NM_007294.3(BRCA1): c.62_65delTCTT (p.Ile21Lysfs)deletionPathogenicrs886040307GRCh37Chr 17, 41276049: 41276052
882BRCA1NM_007294.3(BRCA1): c.689_692delAGAC (p.Glu230Glyfs)deletionPathogenicrs886040308GRCh38Chr 17, 43094839: 43094842
883BRCA1NM_007294.3(BRCA1): c.68delA (p.Glu23Glyfs)deletionPathogenicrs886040309GRCh37Chr 17, 41276046: 41276046
884BRCA1NM_007294.3(BRCA1): c.69dupG (p.Cys24Valfs)duplicationPathogenicrs80357914GRCh38Chr 17, 43124028: 43124028
885BRCA1NM_007294.3(BRCA1): c.704delA (p.Asn235Ilefs)deletionPathogenicrs886040310GRCh38Chr 17, 43094827: 43094827
886BRCA1NM_007294.3(BRCA1): c.707delC (p.Thr236Metfs)deletionPathogenicrs886040311GRCh38Chr 17, 43094824: 43094824
887BRCA1NM_007294.3(BRCA1): c.71_72delGT (p.Cys24Serfs)deletionPathogenicrs886040312GRCh38Chr 17, 43124025: 43124026
888BRCA1NM_007294.3(BRCA1): c.718C> T (p.Gln240Ter)SNVPathogenicrs886040313GRCh38Chr 17, 43094813: 43094813
889BRCA1NM_007294.3(BRCA1)insertionPathogenicrs886040314GRCh37Chr 17, 41246818: 41246819
890BRCA1NM_007294.3(BRCA1): c.743_744insA (p.Thr249Hisfs)insertionPathogenicrs886040315GRCh38Chr 17, 43094787: 43094788
891BRCA1NM_007294.3(BRCA1): c.750_751delGA (p.Lys251Alafs)deletionPathogenicrs886040316GRCh38Chr 17, 43094780: 43094781
892BRCA1NM_007294.3(BRCA1): c.778_779dupAA (p.Tyr261Serfs)duplicationPathogenicrs886040317GRCh38Chr 17, 43094752: 43094753
893BRCA1NM_007294.3(BRCA1): c.784delC (p.Gln262Argfs)deletionPathogenicrs886040318GRCh37Chr 17, 41246764: 41246764
894BRCA1NM_007294.3(BRCA1): c.788dupG (p.Ser264Terfs)duplicationPathogenicrs886040319GRCh38Chr 17, 43094743: 43094743
895BRCA1NM_007294.3(BRCA1): c.807_817dupGCATGTGGAGC (p.Pro273Argfs)duplicationPathogenicrs886040320GRCh38Chr 17, 43094714: 43094724
896BRCA1NM_007294.3(BRCA1): c.814G> T (p.Glu272Ter)SNVPathogenicrs886040321GRCh38Chr 17, 43094717: 43094717
897BRCA1NM_007294.3(BRCA1): c.815_816insTCCATGTGGA (p.Glu272Aspfs)insertionPathogenicrs886040322GRCh37Chr 17, 41246732: 41246733
898BRCA1NM_007294.3(BRCA1): c.829_830delAA (p.Asn277Tyrfs)deletionPathogenicrs886040323GRCh38Chr 17, 43094701: 43094702
899BRCA1NM_007294.3(BRCA1): c.829_836delAATACTCA (p.Asn277Cysfs)deletionPathogenicrs886040324GRCh38Chr 17, 43094695: 43094702
900BRCA1NM_007294.3(BRCA1): c.832dupA (p.Thr278Asnfs)duplicationPathogenicrs886040325GRCh38Chr 17, 43094699: 43094699
901BRCA1NM_007294.3(BRCA1): c.861_862dupCA (p.Ser288Thrfs)duplicationPathogenicrs886040326GRCh37Chr 17, 41246686: 41246687
902BRCA1NM_007294.3(BRCA1): c.862delA (p.Ser288Alafs)deletionPathogenicrs886040327GRCh38Chr 17, 43094669: 43094669
903BRCA1NM_007294.3(BRCA1): c.873dupA (p.Leu292Thrfs)duplicationPathogenicrs886040328GRCh37Chr 17, 41246675: 41246675
904BRCA1NM_007294.3(BRCA1): c.874delC (p.Leu292Serfs)deletionPathogenicrs886040329GRCh37Chr 17, 41246674: 41246674
905BRCA1NM_007294.3(BRCA1): c.898G> T (p.Glu300Ter)SNVPathogenicrs886040330GRCh38Chr 17, 43094633: 43094633
906BRCA1NM_007294.3(BRCA1): c.923_924delGC (p.Ser308Lysfs)deletionPathogenicrs886040331GRCh38Chr 17, 43094607: 43094608
907BRCA1NM_007294.3(BRCA1): c.925A> T (p.Lys309Ter)SNVPathogenicrs879255498GRCh38Chr 17, 43094606: 43094606
908BRCA1NM_007294.3(BRCA1): c.93delC (p.Lys32Argfs)deletionPathogenicrs886040332GRCh38Chr 17, 43115767: 43115767
909BRCA1NM_007294.3(BRCA1): c.944_1007del64 (p.Arg315Lysfs)deletionPathogenicGRCh37Chr 17, 41246541: 41246604
910BRCA1NM_007294.3(BRCA1): c.953delA (p.His318Leufs)deletionPathogenicrs886040333GRCh37Chr 17, 41246595: 41246595
911BRCA1NM_007294.3(BRCA1): c.958delA (p.Arg320Aspfs)deletionPathogenicrs886040334GRCh38Chr 17, 43094573: 43094573
912BRCA1NM_007294.3(BRCA1): c.963G> A (p.Trp321Ter)SNVPathogenicrs886040335GRCh38Chr 17, 43094568: 43094568
913BRCA1NM_007294.3(BRCA1): c.966delT (p.Gly323Glufs)deletionPathogenicrs886040336GRCh38Chr 17, 43094565: 43094565
914BRCA1NM_007294.3(BRCA1): c.979delA (p.Thr327Hisfs)deletionPathogenicrs886040337GRCh37Chr 17, 41246569: 41246569
915BRCA1NM_007294.3(BRCA1): c.98_105delAACCTGTC (p.Glu33Valfs)deletionPathogenicrs886040338GRCh37Chr 17, 41267772: 41267779
916BRCA1NM_007294.3(BRCA1)insertionPathogenicrs886040895GRCh37Chr 17, 41243818: 41243819
917BRCA1NM_007294.3(BRCA1)insertionPathogenicrs886040896GRCh38Chr 17, 43082479: 43082480
918BRCA1NM_007294.3(BRCA1): c.117T> G (p.Cys39Trp)SNVPathogenicrs886040898GRCh37Chr 17, 41267760: 41267760
919BRCA1NM_007294.3(BRCA1): c.1251_1252delTGinsA (p.Asn417Lysfs)indelPathogenicrs886040899GRCh37Chr 17, 41246296: 41246297
920BRCA1NM_007294.3(BRCA1): c.134+1G> ASNVPathogenicrs80358043GRCh37Chr 17, 41267742: 41267742
921BRCA1NM_007294.3(BRCA1): c.135-?_212+?deldeletionPathogenicChr na, -1: -1
922BRCA1NM_007294.3(BRCA1): c.135-?_301+?deldeletionPathogenicChr na, -1: -1
923BRCA1NM_007294.3(BRCA1): c.135-?_4185+?deldeletionPathogenicChr na, -1: -1
924BRCA1NM_007294.3(BRCA1): c.135-?_4484+?deldeletionPathogenicChr na, -1: -1
925BRCA1NM_007294.3(BRCA1): c.135-?_547+?deldeletionPathogenicChr na, -1: -1
926BRCA1NM_007294.3(BRCA1): c.135-?_547+?dupduplicationPathogenicChr na, -1: -1
927BRCA1NM_007294.3(BRCA1): c.135-?_670+?deldeletionPathogenicChr na, -1: -1
928BRCA1NM_007294.3(BRCA1): c.1393_1394ins10 (p.?)insertionPathogenicrs397508864GRCh37Chr 17, 41246154: 41246155
929BRCA1NM_007294.3(BRCA1): c.139T> A (p.Cys47Ser)SNVPathogenicrs80357370GRCh38Chr 17, 43106529: 43106529
930BRCA1NM_007294.3(BRCA1): c.1604_1612delGAACTAACCins13 (p.?)indelPathogenicrs886040900GRCh37Chr 17, 41245936: 41245944
931BRCA1NG_005905.2: g.124095_124103delATTACTAATins2indelPathogenicrs886040901GRCh38Chr 17, 43093881: 43093889
932BRCA1NM_007294.3(BRCA1): c.-19-2A> GSNVPathogenicrs886040902GRCh38Chr 17, 43124117: 43124117
933BRCA1NM_007294.3(BRCA1): c.212G> C (p.Arg71Thr)SNVPathogenicrs80356913GRCh37Chr 17, 41258473: 41258473
934BRCA1NM_007294.3(BRCA1): c.213-?_441+?deldeletionPathogenicChr na, -1: -1
935BRCA1NM_007294.3(BRCA1): c.213-15A> GSNVPathogenicrs886040903GRCh37Chr 17, 41256988: 41256988
936BRCA1NG_005905.2: g.125407_125411delCCATCins3indelPathogenicrs886040904GRCh38Chr 17, 43092573: 43092577
937BRCA1NM_007294.3(BRCA1): c.301+1G> CSNVPathogenicrs587782173GRCh37Chr 17, 41256884: 41256884
938BRCA1NM_007294.3(BRCA1): c.302-?_593+?deldeletionPathogenicChr na, -1: -1
939BRCA1NG_005905.2: g.125502_125503ins7insertionPathogenicrs886040905GRCh37Chr 17, 41244498: 41244499
940BRCA1NM_007294.3(BRCA1): c.3075_3076ins76 (p.?)insertionPathogenicGRCh37Chr 17, 41244472: 41244473
941BRCA1NM_007294.3(BRCA1): c.3076_3077ins76 (p.?)insertionPathogenicGRCh38Chr 17, 43092454: 43092455
942BRCA1NM_007294.3(BRCA1): c.3388_3408del21ins16 (p.?)indelPathogenicrs886040906GRCh37Chr 17, 41244140: 41244160
943BRCA1NM_007294.3(BRCA1): c.3G> C (p.Met1Ile)SNVPathogenicrs80357475GRCh38Chr 17, 43124094: 43124094
944BRCA1NM_007294.3(BRCA1): c.4097-78_4185+69deldeletionPathogenicGRCh37Chr 17, 41242892: 41243127
945BRCA1NM_007294.3(BRCA1): c.4185+2T> CSNVPathogenicrs431825406GRCh37Chr 17, 41242959: 41242959
946BRCA1NM_007294.3(BRCA1): c.4186-?_4357+?deldeletionPathogenicChr na, -1: -1
947BRCA1NM_007294.3(BRCA1): c.4186-?_4484+?deldeletionPathogenicChr na, -1: -1
948BRCA1NM_007294.3(BRCA1): c.4186-?_5277+?deldeletionPathogenicChr na, -1: -1
949BRCA1NM_007294.3(BRCA1): c.4186-1643_4357+2020deldeletionPathogenicGRCh38Chr 17, 43080384: 43084218
950BRCA1NM_007294.3(BRCA1): c.4186-1787_4357+4122dupduplicationPathogenicGRCh38Chr 17, 43078282: 43084362
951BRCA1NM_007294.3(BRCA1): c.4186-832_4357+1955deldeletionPathogenicGRCh38Chr 17, 43080449: 43083407
952BRCA1NM_007294.3(BRCA1): c.4357+1_4357+10deldeletionPathogenicrs886040907GRCh37Chr 17, 41234411: 41234420
953BRCA1NM_007294.3(BRCA1): c.4358-?_4484+?dupduplicationPathogenicChr na, -1: -1
954BRCA1NM_007294.3(BRCA1): c.4358-?_4986+?deldeletionPathogenicChr na, -1: -1
955BRCA1NM_007294.3(BRCA1): c.4358-?_4986+?dupduplicationPathogenicChr na, -1: -1
956BRCA1NM_007294.3(BRCA1): c.4358-?_5074+?deldeletionPathogenicChr na, -1: -1
957BRCA1NM_007294.3(BRCA1): c.4358-?_5193+?deldeletionPathogenicChr na, -1: -1
958BRCA1NM_007294.3(BRCA1): c.438_439ins25 (p.?)insertionPathogenicrs886040908GRCh37Chr 17, 41256141: 41256142
959BRCA1NM_007294.3(BRCA1): c.442-?_4185+?deldeletionPathogenicChr na, -1: -1
960BRCA1NM_007294.3(BRCA1): c.442-?_5277+?dupduplicationPathogenicChr na, -1: -1
961BRCA1NM_007294.3(BRCA1): c.442-?_5467+?deldeletionPathogenicChr na, -1: -1
962BRCA1NM_007294.3(BRCA1): c.442-?_547+?dupduplicationPathogenicChr na, -1: -1
963BRCA1NM_007294.3(BRCA1): c.442-?_670+?deldeletionPathogenicChr na, -1: -1
964BRCA1NM_007294.3(BRCA1): c.442-1129_547+223deldeletionPathogenicGRCh37Chr 17, 41251569: 41253026
965BRCA1NM_007294.3(BRCA1): c.442-7T> ASNVPathogenicrs886040909GRCh37Chr 17, 41251904: 41251904
966BRCA1NM_007294.3(BRCA1): c.442-952_547dupduplicationPathogenicGRCh37Chr 17, 41251792: 41252849
967BRCA1NM_007294.3(BRCA1): c.4484+1G> TSNVPathogenicrs80358063GRCh38Chr 17, 43076487: 43076487
968BRCA1NM_007294.3(BRCA1): c.4484+5G> CSNVPathogenicrs886040910GRCh38Chr 17, 43076483: 43076483
969BRCA1NM_007294.3(BRCA1): c.4485-?_4675+?dupduplicationPathogenicChr na, -1: -1
970BRCA1NM_007294.3(BRCA1): c.4485-?_5074+?deldeletionPathogenicChr na, -1: -1
971BRCA1NM_007294.3(BRCA1): c.4485-1G> CSNVPathogenicrs80358189GRCh37Chr 17, 41226539: 41226539
972BRCA1NM_007294.3(BRCA1): c.4674delA (p.Glu1559Argfs)deletionPathogenicrs886040911GRCh37Chr 17, 41226349: 41226349
973BRCA1NM_007294.3(BRCA1): c.4675+1G> CSNVPathogenicrs80358044GRCh38Chr 17, 43074330: 43074330
974BRCA1NM_007294.3(BRCA1): c.4675+2T> ASNVPathogenicrs879255293GRCh37Chr 17, 41226346: 41226346
975BRCA1NM_007294.3(BRCA1): c.4675+2T> CSNVPathogenicrs879255293GRCh37Chr 17, 41226346: 41226346
976BRCA1NM_007294.3(BRCA1): c.4676-?_4986+?deldeletionPathogenicChr na, -1: -1
977BRCA1NM_007294.3(BRCA1): c.4676-?_5193+?deldeletionPathogenicChr na, -1: -1
978BRCA1NM_007294.3(BRCA1): c.4676-?_5467+?deldeletionPathogenicChr na, -1: -1
979BRCA1NM_007294.3(BRCA1): c.4676-1420_4986+900deldeletionPathogenicGRCh38Chr 17, 43070028: 43072658
980BRCA1NM_007294.3(BRCA1): c.4676-1G> TSNVPathogenicrs80358008GRCh37Chr 17, 41223256: 41223256
981BRCA1NM_007294.3(BRCA1): c.4986+1_4986+2ins65insertionPathogenicGRCh37Chr 17, 41222943: 41222944
982BRCA1NM_007294.3(BRCA1): c.4986+5G> CSNVPathogenicrs397509211GRCh37Chr 17, 41222940: 41222940
983BRCA1NM_007294.3(BRCA1): c.4987-?_5152+?deldeletionPathogenicChr na, -1: -1
984BRCA1NM_007294.3(BRCA1): c.4987-?_5277+?deldeletionPathogenicChr na, -1: -1
985BRCA1NM_007294.3(BRCA1): c.4987-1G> TSNVPathogenicrs730881495GRCh38Chr 17, 43067696: 43067696
986BRCA1NM_007294.3(BRCA1): c.4987-2341_5074+2676deldeletionPathogenicGRCh38Chr 17, 43064932: 43070036
987BRCA1NM_007294.3(BRCA1): c.4987-2508_5074+84deldeletionPathogenicGRCh37Chr 17, 41219541: 41222220
988BRCA1NM_007294.3(BRCA1): c.4987-5T> CSNVPathogenicrs397509214GRCh38Chr 17, 43067700: 43067700
989BRCA1NM_007294.3(BRCA1): c.4987delA (p.Met1663Cysfs)deletionPathogenicrs886040912GRCh38Chr 17, 43067695: 43067695
990BRCA1NM_007294.3(BRCA1): c.5074+1G> CSNVPathogenicrs80358053GRCh38Chr 17, 43067607: 43067607
991BRCA1NM_007294.3(BRCA1): c.5075-?_5152+?deldeletionPathogenicChr na, -1: -1
992BRCA1NM_007294.3(BRCA1): c.5075-?_5193+?deldeletionPathogenicChr na, -1: -1
993BRCA1NM_007294.3(BRCA1): c.5075-?_5193+?dupduplicationPathogenicChr na, -1: -1
994BRCA1NM_007294.3(BRCA1): c.5075-?_5277+?deldeletionPathogenicChr na, -1: -1
995BRCA1NM_007294.3(BRCA1): c.5075-2deldeletionPathogenicrs886040913GRCh38Chr 17, 43063953: 43063953
996BRCA1NM_007294.3(BRCA1): c.5077_5080delGCTGinsTTGATTCTGC (p.Ala1693_Glu1694delinsLeuIleLeuGln)indelPathogenicrs397509224GRCh38Chr 17, 43063946: 43063949
997BRCA1NM_007294.3(BRCA1): c.5152+2T> ASNVPathogenicrs886040914GRCh37Chr 17, 41215889: 41215889
998BRCA1NM_007294.3(BRCA1): c.5153-?_5193+?deldeletionPathogenicChr na, -1: -1
999BRCA1NM_007294.3(BRCA1): c.5193+2T> GSNVPathogenicrs886040915GRCh38Chr 17, 43063331: 43063331
1000BRCA1NM_007294.3(BRCA1): c.5194-?_5277+?delinsGindelPathogenicChr na, -1: -1
1001BRCA1NM_007294.3(BRCA1): c.5194-?_5277+?dupduplicationPathogenicChr na, -1: -1
1002BRCA1NM_007294.3(BRCA1): c.5194-1699_5277+1996delins236indelPathogenicGRCh37Chr 17, 41207073: 41210851
1003BRCA1NM_007294.3(BRCA1): c.5194-1730_5277+1996delins268indelPathogenicGRCh38Chr 17, 43055056: 43058865
1004BRCA1NM_007294.3(BRCA1): c.5194-1G> CSNVPathogenicrs80358173GRCh38Chr 17, 43057136: 43057136
1005BRCA1NM_007294.3(BRCA1): c.5194-1G> TSNVPathogenicrs80358173GRCh38Chr 17, 43057136: 43057136
1006BRCA1NM_007294.3(BRCA1): c.5194-452_5277+3638deldeletionPathogenicGRCh38Chr 17, 43053414: 43057587
1007BRCA1NM_007294.3(BRCA1): c.5194-5858_5277+2206deldeletionPathogenicGRCh37Chr 17, 41206863: 41215010
1008BRCA1NM_007294.3(BRCA1): c.5277+833_5277+1671delins141indelPathogenicGRCh38Chr 17, 43055381: 43056219
1009BRCA1NM_007294.3(BRCA1): c.5278-?_5332+?deldeletionPathogenicChr na, -1: -1
1010BRCA1NM_007294.3(BRCA1): c.5278-?_5406+?deldeletionPathogenicChr na, -1: -1
1011BRCA1NM_007294.3(BRCA1): c.5278-?_5406+?dupduplicationPathogenicChr na, -1: -1
1012BRCA1NM_007294.3(BRCA1): c.5278-?_5467+?dupduplicationPathogenicChr na, -1: -1
1013BRCA1NM_007294.3(BRCA1): c.5278-2A> GSNVPathogenicrs397509253GRCh37Chr 17, 41203136: 41203136
1014BRCA1NM_007294.3(BRCA1): c.5297T> A (p.Ile1766Asn)SNVPathogenicrs80357463GRCh37Chr 17, 41203115: 41203115
1015BRCA1NM_007294.3(BRCA1): c.5311_5332+1deldeletionPathogenicrs886040916GRCh38Chr 17, 43051062: 43051084
1016BRCA1NM_007294.3(BRCA1): c.5331_5332+6delinsCAACATindelPathogenicrs886040917GRCh37Chr 17, 41203074: 41203081
1017BRCA1NM_007294.3(BRCA1): c.5332+1G> TSNVPathogenicrs80358041GRCh38Chr 17, 43051062: 43051062
1018BRCA1NM_007294.3(BRCA1): c.5332+2T> CSNVPathogenicrs80358182GRCh38Chr 17, 43051061: 43051061
1019BRCA1NM_007294.3(BRCA1): c.5333-198_5387deldeletionPathogenicGRCh38Chr 17, 43049140: 43049392
1020BRCA1NM_007294.3(BRCA1): c.5333-1G> TSNVPathogenicrs80358126GRCh37Chr 17, 41201212: 41201212
1021BRCA1NM_007294.3(BRCA1): c.5333-36_5406+400deldeletionPathogenicGRCh37Chr 17, 41200738: 41201247
1022BRCA1NM_007294.3(BRCA1): c.5407-?_5467+?deldeletionPathogenicChr na, -1: -1
1023BRCA1NM_007294.3(BRCA1): c.5407-?_5467+?dupduplicationPathogenicChr na, -1: -1
1024BRCA1NM_007294.3(BRCA1): c.5467+1deldeletionPathogenicrs886040918GRCh38Chr 17, 43047642: 43047642
1025BRCA1NM_007294.3(BRCA1): c.5468-11_5520dupduplicationPathogenicGRCh37Chr 17, 41197767: 41197830
1026BRCA1NM_007294.3(BRCA1): c.5468-2A> TSNVPathogenicrs398122699GRCh37Chr 17, 41197821: 41197821
1027BRCA1NM_007294.3(BRCA1): c.547+3A> TSNVPathogenicrs886040919GRCh38Chr 17, 43099772: 43099772
1028BRCA1NM_007294.3(BRCA1): c.594-?_4484+?deldeletionPathogenicChr na, -1: -1
1029BRCA1NM_007294.3(BRCA1): c.626delC (p.Pro209Leufs)deletionPathogenicrs886040920GRCh38Chr 17, 43095890: 43095890
1030BRCA1NM_007294.3(BRCA1): c.640delG (p.Asp214Metfs)deletionPathogenicrs886040921GRCh37Chr 17, 41247893: 41247893
1031BRCA1NM_007294.3(BRCA1): c.670+1deldeletionPathogenicrs886040922GRCh38Chr 17, 43095845: 43095845
1032BRCA1NM_007294.3(BRCA1): c.671-?_4185+?deldeletionPathogenicChr na, -1: -1
1033BRCA1NM_007294.3(BRCA1): c.671-?_4484+?deldeletionPathogenicChr na, -1: -1
1034BRCA1NM_007294.3(BRCA1): c.671-?_4675+?deldeletionPathogenicChr na, -1: -1
1035BRCA1NM_007294.3(BRCA1): c.671-215_901deldeletionPathogenicGRCh37Chr 17, 41246647: 41247092
1036BRCA1NM_007294.3(BRCA1): c.671-26_1781deldeletionPathogenicGRCh38Chr 17, 43093750: 43094886
1037BRCA1NM_007294.3(BRCA1): c.671-2A> GSNVPathogenicrs80358108GRCh37Chr 17, 41246879: 41246879
1038BRCA1NM_007294.3(BRCA1): c.671-2A> TSNVPathogenicrs80358108GRCh37Chr 17, 41246879: 41246879
1039BRCA1NM_007294.3(BRCA1): c.-7620_80+468delins8indelPathogenicGRCh37Chr 17, 41275566: 41284888
1040BRCA1NM_007294.3(BRCA1): c.80+2T> ASNVPathogenicrs80358128GRCh37Chr 17, 41276032: 41276032
1041BRCA1NM_007294.3(BRCA1): c.81-?_134+?dupduplicationPathogenicChr na, -1: -1
1042BRCA1NM_007294.3(BRCA1): c.81-?_4185+?deldeletionPathogenicChr na, -1: -1
1043BRCA1NM_007294.3(BRCA1): c.81-?_441+?deldeletionPathogenicChr na, -1: -1
1044BRCA1NM_007294.3(BRCA1): c.81-?_5152+?dupduplicationPathogenicChr na, -1: -1
1045BRCA1NM_007294.3(BRCA1): c.81-?_5193+?deldeletionPathogenicChr na, -1: -1
1046BRCA1NM_007294.3(BRCA1): c.81-?_547+?dupduplicationPathogenicChr na, -1: -1
1047BRCA1NM_007294.3(BRCA1): c.81-1588_134+1725deldeletionPathogenicGRCh37Chr 17, 41266018: 41269384
1048BRCA1NM_007294.3(BRCA1): c.134+3_134+4insTinsertionPathogenicrs886041002GRCh38Chr 17, 43115722: 43115723
1049BRCA1NM_007294.3(BRCA1): c.213-1G> TSNVPathogenicrs80358146GRCh38Chr 17, 43104957: 43104957
1050BRCA1NM_007294.3(BRCA1): c.4987-577_5074+343deldeletionPathogenicGRCh37Chr 17, 41219282: 41220289
1051BRCA1NM_007294.3(BRCA1): c.1016delA (p.Lys339Argfs)deletionPathogenicrs80357618GRCh37Chr 17, 41246532: 41246532
1052BRCA1NM_007294.3(BRCA1): c.1018delG (p.Val340Terfs)deletionPathogenicrs80357774GRCh37Chr 17, 41246530: 41246530
1053BRCA1NM_007294.3(BRCA1): c.1121delC (p.Thr374Asnfs)deletionPathogenicrs80357612GRCh37Chr 17, 41246427: 41246427
1054BRCA1NM_007294.3(BRCA1): c.116G> T (p.Cys39Phe)SNVPathogenicrs80357498GRCh37Chr 17, 41267761: 41267761
1055BRCA1NM_007294.3(BRCA1): c.1175_1215del41 (p.Leu392Glnfs)deletionPathogenicrs397507180GRCh37Chr 17, 41246333: 41246373
1056BRCA1NM_007294.3(BRCA1): c.1175_1216del42 (p.Leu392_Asn406delinsHis)deletionPathogenicrs397507181GRCh37Chr 17, 41246332: 41246373
1057BRCA1NM_007294.3(BRCA1): c.1175_1217del43 (p.Leu393Profs)deletionPathogenicrs397507182GRCh37Chr 17, 41246331: 41246373
1058BRCA1NM_007294.3(BRCA1): c.1175_1218del44 (p.Leu392Argfs)deletionPathogenicrs397507183GRCh37Chr 17, 41246330: 41246373
1059BRCA1NM_007294.3(BRCA1): c.134+5G> CSNVLikely pathogenicrs80358038GRCh37Chr 17, 41267738: 41267738
1060BRCA1NM_007294.3(BRCA1): c.1340_1341insG (p.His448Serfs)insertionPathogenicrs80357597GRCh37Chr 17, 41246207: 41246208
1061BRCA1NM_007294.3(BRCA1): c.135-1G> TSNVPathogenicrs80358158GRCh37Chr 17, 41258551: 41258551
1062BRCA1NM_007294.3(BRCA1): c.1360_1361delAG (p.Ser454Terfs)deletionPathogenicrs80357969GRCh37Chr 17, 41246187: 41246188
1063BRCA1NM_007294.3(BRCA1): c.1387_1390delAAAAins5indelPathogenicrs397508866GRCh37Chr 17, 41246158: 41246161
1064BRCA1NM_007294.3(BRCA1): c.1389_1390delAAinsG (p.Thr464Profs)indelPathogenicrs273897659GRCh37Chr 17, 41246158: 41246159
1065BRCA1NM_007294.3(BRCA1): c.143delT (p.Met48Serfs)deletionPathogenicrs80357637GRCh37Chr 17, 41258542: 41258542
1066BRCA1NM_007294.3(BRCA1): c.1444_1447delATTA (p.Ile482Terfs)deletionPathogenicrs80357801GRCh37Chr 17, 41246101: 41246104
1067BRCA1NM_007294.3(BRCA1): c.1480C> T (p.Gln494Ter)SNVPathogenicrs80357010GRCh37Chr 17, 41246068: 41246068
1068BRCA1NM_007294.3(BRCA1): c.1504_1508delTTAAA (p.Leu502Alafs)deletionPathogenicrs80357888GRCh37Chr 17, 41246040: 41246044
1069BRCA1NM_007294.3(BRCA1): c.1510delC (p.Arg504Valfs)deletionPathogenicrs80357908GRCh37Chr 17, 41246038: 41246038
1070BRCA1NM_007294.3(BRCA1): c.1674delA (p.Gly559Valfs)deletionPathogenicrs80357600GRCh37Chr 17, 41245874: 41245874
1071BRCA1NM_007294.3(BRCA1): c.1687C> T (p.Gln563Ter)SNVPathogenicrs80356898GRCh37Chr 17, 41245861: 41245861
1072BRCA1NM_007294.3(BRCA1): c.1728dupA (p.Glu577Argfs)duplicationPathogenicrs397507192GRCh37Chr 17, 41245820: 41245820
1073BRCA1NM_007294.3(BRCA1): c.1854delG (p.Arg618Serfs)deletionPathogenicrs397507193GRCh37Chr 17, 41245694: 41245694
1074BRCA1NM_007294.3(BRCA1): c.1877_1878ins4insertionPathogenicrs80357516GRCh37Chr 17, 41245670: 41245671
1075BRCA1NM_007294.3(BRCA1): c.1921dupA (p.Ile641Asnfs)duplicationPathogenicrs397507194GRCh37Chr 17, 41245627: 41245627
1076BRCA1NM_007294.3(BRCA1): c.1953_1956delGAAA (p.Lys653Serfs)deletionPathogenicrs80357526GRCh37Chr 17, 41245592: 41245595
1077BRCA1NM_007294.3(BRCA1): c.1960A> T (p.Lys654Ter)SNVPathogenicrs80357355GRCh37Chr 17, 41245588: 41245588
1078BRCA1NM_007294.3(BRCA1): c.1961delA (p.Lys654Serfs)deletionPathogenicrs80357522GRCh37Chr 17, 41245587: 41245587
1079BRCA1NM_007294.3(BRCA1): c.1972delA (p.Met658Cysfs)deletionPathogenicrs397507195GRCh37Chr 17, 41245576: 41245576
1080BRCA1NM_007294.3(BRCA1): c.2071delA (p.Arg691Aspfs)deletionPathogenicrs80357688GRCh37Chr 17, 41245477: 41245477
1081BRCA1NM_007294.3(BRCA1): c.2105dupT (p.Leu702Phefs)duplicationPathogenicrs80357880GRCh37Chr 17, 41245443: 41245443
1082BRCA1NM_007294.3(BRCA1): c.212+1G> ASNVPathogenicrs80358042GRCh37Chr 17, 41258472: 41258472
1083BRCA1NM_007294.3(BRCA1): c.2125_2126ins3insertionPathogenicrs80357871GRCh37Chr 17, 41245422: 41245423
1084BRCA1NM_007294.3(BRCA1): c.213-11T> GSNVPathogenicrs80358061GRCh37Chr 17, 41256984: 41256984
1085BRCA1NM_007294.3(BRCA1): c.213-12A> GSNVPathogenicrs80358163GRCh37Chr 17, 41256985: 41256985
1086BRCA1NM_007294.3(BRCA1): c.2138C> G (p.Ser713Ter)SNVPathogenicrs80357233GRCh37Chr 17, 41245410: 41245410
1087BRCA1NM_007294.3(BRCA1): c.2158G> T (p.Glu720Ter)SNVPathogenicrs80356875GRCh37Chr 17, 41245390: 41245390
1088BRCA1NM_007294.3(BRCA1): c.2210_2211delCA (p.Thr737Serfs)deletionPathogenicrs80357654GRCh37Chr 17, 41245337: 41245338
1089BRCA1NM_007294.3(BRCA1): c.2214_2215insTT (p.Lys739Leufs)duplicationPathogenicrs397507197GRCh37Chr 17, 41245334: 41245335
1090BRCA1NM_007294.3(BRCA1): c.2269delG (p.Val757Phefs)deletionPathogenicrs80357583GRCh37Chr 17, 41245279: 41245279
1091BRCA1NM_007294.3(BRCA1): c.2299delA (p.Ser767Alafs)deletionPathogenicrs80357786GRCh37Chr 17, 41245249: 41245249
1092BRCA1NM_007294.3(BRCA1): c.2411_2412delAG (p.Gln804Leufs)deletionPathogenicrs80357664GRCh37Chr 17, 41245136: 41245137
1093BRCA1NM_007294.3(BRCA1): c.2424delT (p.Phe808Leufs)deletionPathogenicrs397507200GRCh37Chr 17, 41245124: 41245124
1094BRCA1NM_007294.3(BRCA1): c.2433delC (p.Lys812Argfs)deletionPathogenicrs80357524GRCh37Chr 17, 41245115: 41245115
1095BRCA1NM_007294.3(BRCA1): c.2457delC (p.Asp821Ilefs)deletionPathogenicrs80357669GRCh37Chr 17, 41245091: 41245091
1096BRCA1NM_007294.3(BRCA1): c.2475delC (p.Asp825Glufs)deletionPathogenicrs80357970GRCh37Chr 17, 41245073: 41245073
1097BRCA1NM_007294.3(BRCA1): c.2515delC (p.His839Thrfs)deletionPathogenicrs80357607GRCh37Chr 17, 41245033: 41245033
1098BRCA1NM_007294.3(BRCA1): c.2563C> T (p.Gln855Ter)SNVPathogenicrs80357131GRCh37Chr 17, 41244985: 41244985
1099BRCA1NM_007294.3(BRCA1): c.2603C> G (p.Ser868Ter)SNVPathogenicrs80356925GRCh37Chr 17, 41244945: 41244945
1100BRCA1NM_007294.3(BRCA1): c.2635G> T (p.Glu879Ter)SNVPathogenicrs80357251GRCh37Chr 17, 41244913: 41244913
1101BRCA1NM_007294.3(BRCA1): c.2677A> T (p.Lys893Ter)SNVPathogenicrs80357170GRCh38Chr 17, 43092854: 43092854
1102BRCA1NM_007294.3(BRCA1): c.2679_2682delGAAA (p.Lys893Asnfs)deletionPathogenicrs80357596GRCh37Chr 17, 41244866: 41244869
1103BRCA1NM_007294.3(BRCA1): c.2707_2708insAT (p.Cys903Tyrfs)duplicationPathogenicrs80357717GRCh37Chr 17, 41244841: 41244842
1104BRCA1NM_007294.3(BRCA1): c.2710G> T (p.Glu904Ter)SNVPathogenicrs80357035GRCh37Chr 17, 41244838: 41244838
1105BRCA1NM_007294.3(BRCA1): c.2806_2809delGATA (p.Asp936Serfs)deletionPathogenicrs80357832GRCh37Chr 17, 41244739: 41244742
1106BRCA1NM_007294.3(BRCA1): c.2864_2865insT (p.Ser956Ilefs)insertionPathogenicrs397507205GRCh37Chr 17, 41244683: 41244684
1107BRCA1NM_007294.3(BRCA1): c.2934T> G (p.Tyr978Ter)SNVPathogenicrs80357115GRCh37Chr 17, 41244614: 41244614
1108BRCA1NM_007294.3(BRCA1): c.2981_2982delGT (p.Cys994Terfs)deletionPathogenicrs397507207GRCh37Chr 17, 41244566: 41244567
1109BRCA1NM_007294.3(BRCA1): c.302-2A> CSNVPathogenicrs80358011GRCh37Chr 17, 41256280: 41256280
1110BRCA1NM_007294.3(BRCA1): c.302-3C> GSNVLikely pathogenic, Pathogenicrs80358051GRCh37Chr 17, 41256281: 41256281
1111BRCA1NM_007294.3(BRCA1): c.3037_3038delGA (p.Glu1013Asnfs)deletionPathogenicrs397507208GRCh37Chr 17, 41244510: 41244511
1112BRCA1NM_007294.3(BRCA1): c.3052_3053ins5insertionPathogenicrs80357856GRCh37Chr 17, 41244495: 41244496
1113BRCA1NM_007294.3(BRCA1): c.3112G> T (p.Glu1038Ter)SNVPathogenicrs80357161GRCh37Chr 17, 41244436: 41244436
1114BRCA1NM_007294.3(BRCA1): c.3164_3165ins4insertionPathogenicrs587777910GRCh37Chr 17, 41244383: 41244384
1115BRCA1NM_007294.3(BRCA1): c.3174delT (p.Asn1059Metfs)deletionPathogenicrs397507210GRCh37Chr 17, 41244374: 41244374
1116BRCA1NM_007294.3(BRCA1): c.3228_3229delAG (p.Gly1077Alafs)deletionPathogenicrs80357635GRCh37Chr 17, 41244319: 41244320
1117BRCA1NM_007294.3(BRCA1): c.329delA (p.Lys110Argfs)deletionPathogenicrs397507214GRCh38Chr 17, 43104234: 43104234
1118BRCA1NM_007294.3(BRCA1): c.3331_3334delCAAG (p.Gln1111Asnfs)deletionPathogenicrs80357701GRCh37Chr 17, 41244214: 41244217
1119BRCA1NM_007294.3(BRCA1): c.3352C> T (p.Gln1118Ter)SNVPathogenicrs397507215GRCh37Chr 17, 41244196: 41244196
1120BRCA1NM_007294.3(BRCA1): c.3358_3359delGT (p.Val1120Terfs)deletionPathogenicrs80357945GRCh37Chr 17, 41244189: 41244190
1121BRCA1NM_007294.3(BRCA1): c.3389C> G (p.Ser1130Ter)SNVPathogenicrs80357405GRCh37Chr 17, 41244159: 41244159
1122BRCA1NM_007294.3(BRCA1): c.3400G> T (p.Glu1134Ter)SNVPathogenicrs80357018GRCh37Chr 17, 41244148: 41244148
1123BRCA1NM_007294.3(BRCA1): c.3442delG (p.Glu1148Argfs)deletionPathogenicrs80357808GRCh37Chr 17, 41244106: 41244106
1124BRCA1NM_007294.3(BRCA1): c.3485delA (p.Asp1162Valfs)deletionPathogenicrs80357509GRCh37Chr 17, 41244063: 41244063
1125BRCA1NM_007294.3(BRCA1): c.3503delA (p.Asn1168Metfs)deletionPathogenicrs397507216GRCh37Chr 17, 41244045: 41244045
1126BRCA1NM_007294.3(BRCA1): c.3612delA (p.Ala1206Profs)deletionPathogenicrs80357980GRCh37Chr 17, 41243936: 41243936
1127BRCA1NM_007294.3(BRCA1): c.3627dupA (p.Glu1210Argfs)duplicationPathogenicrs80357729GRCh37Chr 17, 41243921: 41243921
1128BRCA1NM_007294.3(BRCA1): c.3648dupA (p.Ser1217Ilefs)duplicationPathogenicrs80357902GRCh37Chr 17, 41243900: 41243900
1129BRCA1NM_007294.3(BRCA1): c.3671_3672ins4insertionPathogenicrs80357797GRCh37Chr 17, 41243876: 41243877
1130BRCA1NM_007294.3(BRCA1): c.3683delA (p.His1228Profs)deletionPathogenicrs397507217GRCh38Chr 17, 43091848: 43091848
1131BRCA1NM_007294.3(BRCA1): c.3689T> G (p.Leu1230Ter)SNVPathogenicrs80357162GRCh37Chr 17, 41243859: 41243859
1132BRCA1NM_007294.3(BRCA1): c.3700_3704delGTAAA (p.Val1234Glnfs)deletionPathogenicrs80357609GRCh37Chr 17, 41243844: 41243848
1133BRCA1NM_007294.3(BRCA1): c.3759_3760delTA (p.Lys1254Glufs)deletionPathogenicrs80357520GRCh37Chr 17, 41243788: 41243789
1134BRCA1NM_007294.3(BRCA1): c.3764dupA (p.Asn1255Lysfs)duplicationPathogenicrs80357848GRCh37Chr 17, 41243784: 41243784
1135BRCA1NM_007294.3(BRCA1): c.3770_3771delAG (p.Glu1257Glyfs)deletionPathogenicrs80357579GRCh37Chr 17, 41243777: 41243778
1136BRCA1NM_007294.3(BRCA1): c.3771_3772delGGinsC (p.Glu1257Aspfs)indelPathogenicrs397507218GRCh37Chr 17, 41243776: 41243777
1137BRCA1NM_007294.3(BRCA1): c.3825dupA (p.Leu1276Ilefs)duplicationPathogenicrs397507220GRCh37Chr 17, 41243723: 41243723
1138BRCA1NM_007294.3(BRCA1): c.3858_3861delTGAG (p.Ser1286Argfs)deletionPathogenicrs80357842GRCh37Chr 17, 41243687: 41243690
1139BRCA1NM_007294.3(BRCA1): c.3868A> T (p.Lys1290Ter)SNVPathogenicrs80357254GRCh37Chr 17, 41243680: 41243680
1140BRCA1NM_007294.3(BRCA1): c.3937C> T (p.Gln1313Ter)SNVPathogenicrs80357318GRCh37Chr 17, 41243611: 41243611
1141BRCA1NM_007294.3(BRCA1): c.3991C> T (p.Gln1331Ter)SNVPathogenicrs397507224GRCh37Chr 17, 41243557: 41243557
1142BRCA1NM_007294.3(BRCA1): c.4015G> T (p.Glu1339Ter)SNVPathogenicrs80357021GRCh37Chr 17, 41243533: 41243533
1143BRCA1NM_007294.3(BRCA1): c.4035delA (p.Glu1346Lysfs)deletionPathogenicrs80357711GRCh37Chr 17, 41243513: 41243513
1144BRCA1NM_007294.3(BRCA1): c.4096+1G> ASNVLikely pathogenic, Pathogenicrs80358178GRCh37Chr 17, 41243451: 41243451
1145BRCA1NM_007294.3(BRCA1): c.4097-1G> ASNVPathogenicrs80358070GRCh37Chr 17, 41243050: 41243050
1146BRCA1NM_007294.3(BRCA1): c.4116_4117delTG (p.Cys1372Terfs)deletionPathogenicrs80357804GRCh37Chr 17, 41243029: 41243030
1147BRCA1NM_007294.3(BRCA1): c.4117G> T (p.Glu1373Ter)SNVPathogenicrs80357259GRCh37Chr 17, 41243029: 41243029
1148BRCA1NM_007294.3(BRCA1): c.4120_4121delAG (p.Ser1374Terfs)deletionPathogenicrs80357787GRCh37Chr 17, 41243025: 41243026
1149BRCA1NM_007294.3(BRCA1): c.4148C> G (p.Ser1383Ter)SNVPathogenicrs80357071GRCh37Chr 17, 41242998: 41242998
1150BRCA1NM_007294.3(BRCA1): c.4185+2_4185+22del21insAindelPathogenicrs273900724GRCh37Chr 17, 41242939: 41242959
1151BRCA1NM_007294.3(BRCA1): c.4243delG (p.Glu1415Lysfs)deletionPathogenicrs80357981GRCh37Chr 17, 41234535: 41234535
1152BRCA1NM_007294.3(BRCA1): c.4251_4252delGT (p.Leu1418Argfs)deletionPathogenicrs80357977GRCh37Chr 17, 41234526: 41234527
1153BRCA1NM_007294.3(BRCA1): c.427G> T (p.Glu143Ter)SNVPathogenicrs80356991GRCh37Chr 17, 41256153: 41256153
1154BRCA1NM_007294.3(BRCA1): c.4357+1G> ASNVPathogenicrs80358027GRCh37Chr 17, 41234420: 41234420
1155BRCA1NM_007294.3(BRCA1): c.4387delT (p.Tyr1463Thrfs)deletionPathogenicrs397507229GRCh37Chr 17, 41228602: 41228602
1156BRCA1NM_007294.3(BRCA1): c.4388_4389ins7insertionPathogenicrs587777911GRCh37Chr 17, 41228600: 41228601
1157BRCA1NM_007294.3(BRCA1): c.4391_4393delCTAinsTT (p.Pro1464Leufs)indelPathogenicrs273900730GRCh37Chr 17, 41228596: 41228598
1158BRCA1NM_007294.3(BRCA1): c.4391delC (p.Pro1464Leufs)deletionPathogenicrs80357916GRCh37Chr 17, 41228598: 41228598
1159BRCA1NM_007294.3(BRCA1): c.4393delA (p.Ile1465Terfs)deletionPathogenicrs397507230GRCh37Chr 17, 41228596: 41228596
1160BRCA1NM_007294.3(BRCA1): c.4427dupA (p.Phe1477Valfs)duplicationPathogenicrs397507231GRCh37Chr 17, 41228562: 41228562
1161BRCA1NM_007294.3(BRCA1): c.4482_4483delAA (p.Arg1495Valfs)deletionPathogenicrs80357854GRCh37Chr 17, 41228506: 41228507
1162BRCA1NM_007294.3(BRCA1): c.4484+1G> ASNVPathogenicrs80358063GRCh37Chr 17, 41228504: 41228504
1163BRCA1NM_007294.3(BRCA1): c.4484G> T (p.Arg1495Met)SNVPathogenicrs80357389GRCh37Chr 17, 41228505: 41228505
1164BRCA1NM_007294.3(BRCA1): c.466dupC (p.Leu156Profs)duplicationPathogenicrs397507236GRCh37Chr 17, 41251873: 41251873
1165BRCA1NM_007294.3(BRCA1): c.4675G> A (p.Glu1559Lys)SNVPathogenicrs80356988GRCh37Chr 17, 41226348: 41226348
1166BRCA1NM_007294.3(BRCA1): c.4675G> C (p.Glu1559Gln)SNVLikely pathogenic, Pathogenicrs80356988GRCh37Chr 17, 41226348: 41226348
1167BRCA1NM_007294.3(BRCA1): c.4689C> G (p.Tyr1563Ter)SNVPathogenicrs80357433GRCh37Chr 17, 41223242: 41223242
1168BRCA1NM_007294.3(BRCA1): c.470_471delCT (p.Ser157Terfs)deletionPathogenicrs80357887GRCh37Chr 17, 41251868: 41251869
1169BRCA1NM_007294.3(BRCA1): c.4749_4750delAG (p.Arg1583Serfs)deletionPathogenicrs80357641GRCh37Chr 17, 41223181: 41223182
1170BRCA1NM_007294.3(BRCA1): c.4775_4779delACATAinsC (p.Asn1592Thrfs)indelPathogenicrs397507237GRCh37Chr 17, 41223152: 41223156
1171BRCA1NM_007294.3(BRCA1): c.4868C> G (p.Ala1623Gly)SNVLikely pathogenic, Pathogenicrs80356862GRCh37Chr 17, 41223063: 41223063
1172BRCA1NM_007294.3(BRCA1): c.4964_4982del19 (p.Ser1655Tyrfs)deletionPathogenicrs80359876GRCh37Chr 17, 41222949: 41222967
1173BRCA1NM_007294.3(BRCA1): c.4986+1G> TSNVPathogenicrs80358162GRCh37Chr 17, 41222944: 41222944
1174BRCA1NM_007294.3(BRCA1): c.4986+4A> CSNVPathogenicrs80358087GRCh37Chr 17, 41222941: 41222941
1175BRCA1NM_007294.3(BRCA1): c.4986+6T> CSNVLikely pathogenic, Pathogenicrs80358086GRCh37Chr 17, 41222939: 41222939
1176BRCA1NM_007294.3(BRCA1): c.5030_5033delCTAA (p.Thr1677Ilefs)deletionPathogenicrs80357580GRCh37Chr 17, 41219666: 41219669
1177BRCA1NM_007294.3(BRCA1): c.5035_5039delCTAAT (p.Leu1679Tyrfs)deletionPathogenicrs80357623GRCh37Chr 17, 41219660: 41219664
1178BRCA1NM_007294.3(BRCA1): c.5068A> T (p.Lys1690Ter)SNVPathogenicrs397507239GRCh37Chr 17, 41219631: 41219631
1179BRCA1NM_007294.3(BRCA1): c.5074+1G> ASNVPathogenicrs80358053GRCh37Chr 17, 41219624: 41219624
1180BRCA1NM_007294.3(BRCA1): c.5074+1G> TSNVLikely pathogenic, Pathogenicrs80358053GRCh37Chr 17, 41219624: 41219624
1181BRCA1NM_007294.3(BRCA1): c.5074+2T> CSNVPathogenicrs80358089GRCh37Chr 17, 41219623: 41219623
1182BRCA1NM_007294.3(BRCA1): c.5074G> A (p.Asp1692Asn)SNVLikely pathogenic, Pathogenicrs80187739GRCh37Chr 17, 41219625: 41219625
1183BRCA1NM_007294.3(BRCA1): c.5074G> C (p.Asp1692His)SNVLikely pathogenic, Pathogenicrs80187739GRCh37Chr 17, 41219625: 41219625
1184BRCA1NM_007294.3(BRCA1): c.5096G> A (p.Arg1699Gln)SNVLikely pathogenic, Pathogenicrs41293459GRCh37Chr 17, 41215947: 41215947
1185BRCA1NM_007294.3(BRCA1): c.5117G> A (p.Gly1706Glu)SNVPathogenicrs80356860GRCh37Chr 17, 41215926: 41215926
1186BRCA1NM_007294.3(BRCA1): c.5152+1G> CSNVPathogenicrs80358094GRCh37Chr 17, 41215890: 41215890
1187BRCA1NM_007294.3(BRCA1): c.5153-1G> CSNVPathogenicrs80358137GRCh37Chr 17, 41215391: 41215391
1188BRCA1NM_007294.3(BRCA1): c.5177_5180delGAAA (p.Arg1726Lysfs)deletionPathogenicrs80357867GRCh37Chr 17, 41215363: 41215366
1189BRCA1NM_007294.3(BRCA1): c.5179A> T (p.Lys1727Ter)SNVPathogenicrs80357347GRCh37Chr 17, 41215364: 41215364
1190BRCA1NM_007294.3(BRCA1): c.5194-2A> GSNVLikely pathogenic, Pathogenicrs80358069GRCh37Chr 17, 41209154: 41209154
1191BRCA1NM_007294.3(BRCA1): c.5207T> C (p.Val1736Ala)SNVLikely pathogenic, Pathogenicrs45553935GRCh37Chr 17, 41209139: 41209139
1192BRCA1NM_007294.3(BRCA1): c.5232_5238delAAACCACins12 (p.?)indelPathogenicrs483353071GRCh37Chr 17, 41209108: 41209114
1193BRCA1NM_007294.3(BRCA1): c.5259delA (p.Glu1754Asnfs)deletionPathogenicrs80357925GRCh37Chr 17, 41209087: 41209087
1194BRCA1NM_007294.3(BRCA1): c.5277+1G> ASNVPathogenicrs80358150GRCh37Chr 17, 41209068: 41209068
1195BRCA1NM_007294.3(BRCA1): c.5289dupG (p.Leu1764Alafs)duplicationPathogenicrs80357886GRCh37Chr 17, 41203123: 41203123
1196BRCA1NM_007294.3(BRCA1): c.5297T> G (p.Ile1766Ser)SNVPathogenicrs80357463GRCh37Chr 17, 41203115: 41203115
1197BRCA1NM_007294.3(BRCA1): c.5335delC (p.Gln1779Asnfs)deletionPathogenicrs80357590GRCh37Chr 17, 41201209: 41201209
1198BRCA1NM_007294.3(BRCA1): c.5346G> A (p.Trp1782Ter)SNVPathogenicrs80357284GRCh37Chr 17, 41201198: 41201198
1199BRCA1NM_007294.3(BRCA1): c.5363G> T (p.Gly1788Val)SNVPathogenicrs80357069GRCh37Chr 17, 41201181: 41201181
1200BRCA1NM_007294.3(BRCA1): c.5386delT (p.Ser1796Hisfs)deletionPathogenicrs397507249GRCh37Chr 17, 41201158: 41201158
1201BRCA1NM_007294.3(BRCA1): c.5387C> A (p.Ser1796Ter)SNVPathogenicrs80357055GRCh37Chr 17, 41201157: 41201157
1202BRCA1NM_007294.3(BRCA1): c.5406+1G> ASNVPathogenicrs80358028GRCh37Chr 17, 41201137: 41201137
1203BRCA1NM_007294.3(BRCA1): c.5406+5G> TSNVLikely pathogenic, Pathogenicrs80358073GRCh37Chr 17, 41201133: 41201133
1204BRCA1NM_007294.3(BRCA1): c.5417delC (p.Pro1806Glnfs)deletionPathogenicrs80357558GRCh37Chr 17, 41199710: 41199710
1205BRCA1NM_007294.3(BRCA1): c.5434C> G (p.Pro1812Ala)SNVLikely pathogenic, Pathogenicrs1800751GRCh37Chr 17, 41199693: 41199693
1206BRCA1NM_007294.3(BRCA1): c.5453A> G (p.Asp1818Gly)SNVLikely pathogenic, Pathogenicrs80357477GRCh37Chr 17, 41199674: 41199674
1207BRCA1NM_007294.3(BRCA1): c.5467+1G> ASNVLikely pathogenic, Pathogenicrs80358145GRCh37Chr 17, 41199659: 41199659
1208BRCA1NM_007294.3(BRCA1): c.547+2T> ASNVPathogenicrs80358047GRCh37Chr 17, 41251790: 41251790
1209BRCA1NM_007294.3(BRCA1): c.66dupA (p.Glu23Argfs)duplicationPathogenicrs80357783GRCh37Chr 17, 41276048: 41276048
1210BRCA1NM_007294.3(BRCA1): c.676delT (p.Cys226Valfs)deletionPathogenicrs80357941GRCh37Chr 17, 41246872: 41246872
1211BRCA1NM_007294.3(BRCA1): c.697_698delGT (p.Val233Asnfs)deletionPathogenicrs80357747GRCh37Chr 17, 41246850: 41246851
1212BRCA1NM_007294.3(BRCA1): c.783T> G (p.Tyr261Ter)SNVPathogenicrs80357321GRCh37Chr 17, 41246765: 41246765
1213BRCA1NM_007294.3(BRCA1): c.798_799delTT (p.Ser267Lysfs)deletionPathogenicrs80357724GRCh37Chr 17, 41246749: 41246750
1214BRCA1NM_007294.3(BRCA1): c.824_825ins10 (p.?)insertionPathogenicrs387906563GRCh37Chr 17, 41246723: 41246724
1215BRCA1NM_007294.3(BRCA1): c.85G> T (p.Glu29Ter)SNVPathogenicrs80357443GRCh37Chr 17, 41267792: 41267792
1216BRCA1NM_007294.3(BRCA1): c.929delA (p.Gln310Argfs)deletionPathogenicrs80357844GRCh37Chr 17, 41246619: 41246619
1217BRCA1NM_007294.3(BRCA1): c.952_1015del64 (p.His318Argfs)deletionPathogenicrs80359872GRCh37Chr 17, 41246533: 41246596
1218BRCA1NM_007294.3(BRCA1): c.962G> A (p.Trp321Ter)SNVPathogenicrs80357292GRCh37Chr 17, 41246586: 41246586
1219BRCA2NM_000059.3(BRCA2): c.5035delA (p.Thr1679Leufs)deletionPathogenicrs80359477GRCh37Chr 13, 32913527: 32913527
1220BRCA2NM_000059.3(BRCA2): c.8297delC (p.Thr2766Asnfs)deletionPathogenicrs80359705GRCh37Chr 13, 32937636: 32937636
1221BRCA2NM_000059.3(BRCA2): c.9097dupA (p.Thr3033Asnfs)duplicationPathogenicrs397507419GRCh37Chr 13, 32954030: 32954030
1222BRCA2NM_000059.3(BRCA2): c.9294C> G (p.Tyr3098Ter)SNVPathogenicrs80359200GRCh37Chr 13, 32968863: 32968863
1223BRCA2NM_000059.3(BRCA2): c.9435_9436delGT (p.Ser3147Cysfs)deletionPathogenicrs80359763GRCh37Chr 13, 32969004: 32969005
1224BRCA2NM_000059.3(BRCA2): c.5130_5133delTGTA (p.Tyr1710Terfs)deletionPathogenicrs80359484GRCh37Chr 13, 32913622: 32913625
1225BRCA2NM_000059.3(BRCA2): c.7558C> T (p.Arg2520Ter)SNVPathogenicrs80358981GRCh37Chr 13, 32930687: 32930687
1226BRCA2NM_000059.3(BRCA2): c.9154C> T (p.Arg3052Trp)SNVPathogenicrs45580035GRCh37Chr 13, 32954180: 32954180
1227BRCA1NM_007294.3(BRCA1): c.1008dupA (p.Glu337Argfs)duplicationPathogenicrs67284603GRCh37Chr 17, 41246540: 41246540
1228BRCA1NM_007294.3(BRCA1): c.1012A> T (p.Lys338Ter)SNVPathogenicrs397508826GRCh37Chr 17, 41246536: 41246536
1229BRCA1NM_007294.3(BRCA1): c.1011dupA (p.Val340Glyfs)duplicationPathogenicrs80357569GRCh37Chr 17, 41246532: 41246532
1230BRCA1NM_007294.3(BRCA1): c.101delC (p.Pro34Leufs)deletionPathogenicrs80357750GRCh37Chr 17, 41267776: 41267776
1231BRCA1NM_007294.3(BRCA1): c.1039_1040delCT (p.Leu347Valfs)deletionPathogenicrs397508827GRCh37Chr 17, 41246508: 41246509
1232BRCA1NM_007294.3(BRCA1): c.1045G> T (p.Glu349Ter)SNVPathogenicrs80357338GRCh37Chr 17, 41246503: 41246503
1233BRCA1NM_007294.3(BRCA1): c.1054G> T (p.Glu352Ter)SNVPathogenicrs80357472GRCh37Chr 17, 41246494: 41246494
1234BRCA1NM_007294.3(BRCA1): c.1058G> A (p.Trp353Ter)SNVPathogenicrs80356908GRCh37Chr 17, 41246490: 41246490
1235BRCA1NM_007294.3(BRCA1): c.1059G> A (p.Trp353Ter)SNVPathogenicrs80356935GRCh37Chr 17, 41246489: 41246489
1236BRCA1NM_007294.3(BRCA1): c.1066C> T (p.Gln356Ter)SNVPathogenicrs80357215GRCh37Chr 17, 41246482: 41246482
1237BRCA1NM_007294.3(BRCA1): c.1067delA (p.Gln356Argfs)deletionPathogenicrs80357796GRCh37Chr 17, 41246481: 41246481
1238BRCA1NM_007294.3(BRCA1): c.1068_1077delGAAACTGCCA (p.Gln356Hisfs)deletionPathogenicrs397508830GRCh37Chr 17, 41246471: 41246480
1239BRCA1NM_007294.3(BRCA1): c.1072delC (p.Leu358Cysfs)deletionPathogenicrs80357836GRCh37Chr 17, 41246476: 41246476
1240BRCA1NM_007294.3(BRCA1): c.1082C> G (p.Ser361Ter)SNVPathogenicrs397508833GRCh37Chr 17, 41246466: 41246466
1241BRCA1NM_007294.3(BRCA1): c.1082_1092delCAGAGAATCCT (p.Ser361Terfs)deletionPathogenicrs80359880GRCh37Chr 17, 41246456: 41246466
1242BRCA1NM_007294.3(BRCA1): c.1086_1087delGA (p.Asn363Serfs)deletionPathogenicrs80357897GRCh37Chr 17, 41246461: 41246462
1243BRCA1NM_007294.3(BRCA1): c.1088delA (p.Asn363Ilefs)deletionPathogenicrs80357954GRCh37Chr 17, 41246460: 41246460
1244BRCA1NM_007294.3(BRCA1): c.1091delC (p.Pro364Leufs)deletionPathogenicrs397508834GRCh37Chr 17, 41246457: 41246457
1245BRCA1NM_007294.3(BRCA1): c.1102G> T (p.Glu368Ter)SNVPathogenicrs80357139GRCh37Chr 17, 41246446: 41246446
1246BRCA1NM_007294.3(BRCA1): c.110C> A (p.Thr37Lys)SNVPathogenicrs80356880GRCh37Chr 17, 41267767: 41267767
1247BRCA1NM_007294.3(BRCA1): c.1115G> A (p.Trp372Ter)SNVPathogenicrs397508838GRCh37Chr 17, 41246433: 41246433
1248BRCA1NM_007294.3(BRCA1): c.1116G> A (p.Trp372Ter)SNVPathogenicrs80357468GRCh37Chr 17, 41246432: 41246432
1249BRCA1NM_007294.3(BRCA1): c.1121_1123delCACinsT (p.Thr374Ilefs)indelPathogenicrs273897652GRCh37Chr 17, 41246425: 41246427
1250BRCA1NM_007294.3(BRCA1): c.1127delA (p.Asn376Ilefs)deletionPathogenicrs80357821GRCh37Chr 17, 41246421: 41246421
1251BRCA1NM_007294.3(BRCA1): c.112_113delAA (p.Lys38Valfs)deletionPathogenicrs80357949GRCh37Chr 17, 41267764: 41267765
1252BRCA1NM_007294.3(BRCA1): c.1138C> T (p.Gln380Ter)SNVPathogenicrs397508840GRCh37Chr 17, 41246410: 41246410
1253BRCA1NM_007294.3(BRCA1): c.1141A> T (p.Lys381Ter)SNVPathogenicrs80357385GRCh37Chr 17, 41246407: 41246407
1254BRCA1NM_007294.3(BRCA1): c.1152dupG (p.Trp385Valfs)duplicationPathogenicrs397508841GRCh37Chr 17, 41246396: 41246396
1255BRCA1NM_007294.3(BRCA1): c.115T> C (p.Cys39Arg)SNVPathogenicrs80357164GRCh37Chr 17, 41267762: 41267762
1256BRCA1NM_007294.3(BRCA1): c.115T> G (p.Cys39Gly)SNVPathogenicrs80357164GRCh37Chr 17, 41267762: 41267762
1257BRCA1NM_007294.3(BRCA1): c.1165delA (p.Ser389Valfs)deletionPathogenicrs80357985GRCh37Chr 17, 41246383: 41246383
1258BRCA1NM_007294.3(BRCA1): c.1166delG (p.Ser389Metfs)deletionPathogenicrs273897653GRCh37Chr 17, 41246382: 41246382
1259BRCA1NM_007294.3(BRCA1): c.117_118delTG (p.Cys39Terfs)deletionPathogenicrs80357972GRCh37Chr 17, 41267759: 41267760
1260BRCA1NM_007294.3(BRCA1): c.1188delT (p.Asp396Glufs)deletionPathogenicrs397508845GRCh37Chr 17, 41246360: 41246360
1261BRCA1NM_007294.3(BRCA1): c.1193C> G (p.Ser398Ter)SNVPathogenicrs80357068GRCh37Chr 17, 41246355: 41246355
1262BRCA1NM_007294.3(BRCA1): c.1204G> T (p.Glu402Ter)SNVPathogenicrs273897655GRCh37Chr 17, 41246344: 41246344
1263BRCA1NM_007294.3(BRCA1): c.1204delG (p.Glu402Serfs)deletionPathogenicrs80357859GRCh37Chr 17, 41246344: 41246344
1264BRCA1NM_007294.3(BRCA1): c.1214C> A (p.Ser405Ter)SNVPathogenicrs80357481GRCh37Chr 17, 41246334: 41246334
1265BRCA1NM_007294.3(BRCA1): c.122A> G (p.His41Arg)SNVPathogenicrs80357276GRCh37Chr 17, 41267755: 41267755
1266BRCA1NM_007294.3(BRCA1): c.1232_1233delAT (p.Asp411Glyfs)deletionPathogenicrs397508848GRCh37Chr 17, 41246315: 41246316
1267BRCA1NM_007294.3(BRCA1): c.1240_1246delGACGTTC (p.Asp414Terfs)deletionPathogenicrs80357964GRCh37Chr 17, 41246302: 41246308
1268BRCA1NM_007294.3(BRCA1): c.1241dupA (p.Asp414Glufs)duplicationPathogenicrs80357514GRCh37Chr 17, 41246307: 41246307
1269BRCA1NM_007294.3(BRCA1): c.124delA (p.Ile42Tyrfs)deletionPathogenicrs80357943GRCh37Chr 17, 41267753: 41267753
1270BRCA1NM_007294.3(BRCA1): c.1252G> T (p.Glu418Ter)SNVPathogenicrs80357083GRCh37Chr 17, 41246296: 41246296
1271BRCA1NM_007294.3(BRCA1): c.1255delG (p.Val419Terfs)deletionPathogenicrs80357535GRCh37Chr 17, 41246293: 41246293
1272BRCA1NM_007294.3(BRCA1): c.1265dupA (p.Tyr422Terfs)duplicationPathogenicrs80357809GRCh37Chr 17, 41246283: 41246283
1273BRCA1NM_007294.3(BRCA1): c.1266T> G (p.Tyr422Ter)SNVPathogenicrs80357417GRCh37Chr 17, 41246282: 41246282
1274BRCA1NM_007294.3(BRCA1): c.1276delT (p.Ser426Glnfs)deletionPathogenicrs80357766GRCh37Chr 17, 41246272: 41246272
1275BRCA1NM_007294.3(BRCA1): c.1287dupA (p.Asp430Argfs)duplicationPathogenicrs80357576GRCh37Chr 17, 41246261: 41246261
1276BRCA1NM_007294.3(BRCA1): c.1292T> G (p.Leu431Ter)SNVPathogenicrs80357346GRCh37Chr 17, 41246256: 41246256
1277BRCA1NM_007294.3(BRCA1): c.1292dupT (p.Leu431Phefs)duplicationPathogenicrs80357528GRCh37Chr 17, 41246256: 41246256
1278BRCA1NM_007294.3(BRCA1): c.1297delG (p.Ala433Profs)deletionPathogenicrs80357794GRCh37Chr 17, 41246251: 41246251
1279BRCA1NM_007294.3(BRCA1): c.130T> A (p.Cys44Ser)SNVPathogenicrs80357327GRCh37Chr 17, 41267747: 41267747
1280BRCA1NM_007294.3(BRCA1): c.130delT (p.Cys44Alafs)deletionPathogenicrs80357951GRCh37Chr 17, 41267747: 41267747
1281BRCA1NM_007294.3(BRCA1): c.1319delT (p.Leu440Terfs)deletionPathogenicrs80357683GRCh37Chr 17, 41246229: 41246229
1282BRCA1NM_007294.3(BRCA1): c.131G> A (p.Cys44Tyr)SNVPathogenicrs80357446GRCh37Chr 17, 41267746: 41267746
1283BRCA1NM_007294.3(BRCA1): c.131G> T (p.Cys44Phe)SNVLikely pathogenic, Pathogenicrs80357446GRCh37Chr 17, 41267746: 41267746
1284BRCA1NM_007294.3(BRCA1): c.1323_1324delAT (p.Ile441Metfs)deletionPathogenicrs80357570GRCh37Chr 17, 41246224: 41246225
1285BRCA1NM_007294.3(BRCA1): c.1326T> A (p.Cys442Ter)SNVPathogenicrs397508854GRCh37Chr 17, 41246222: 41246222
1286BRCA1NM_007294.3(BRCA1): c.1333G> T (p.Glu445Ter)SNVPathogenicrs80356915GRCh37Chr 17, 41246215: 41246215
1287BRCA1NM_007294.3(BRCA1): c.1335_1336delAA (p.Arg446Serfs)deletionPathogenicrs80357978GRCh37Chr 17, 41246212: 41246213
1288BRCA1NM_007294.3(BRCA1): c.133_134+3delAAGTAinsTindelPathogenicrs397508856GRCh37Chr 17, 41267740: 41267744
1289BRCA1NM_007294.3(BRCA1): c.133_134delAA (p.Lys45Ilefs)deletionPathogenicrs397508857GRCh37Chr 17, 41267743: 41267744
1290BRCA1NM_007294.3(BRCA1): c.134+1G> TSNVPathogenicrs80358043GRCh37Chr 17, 41267742: 41267742
1291BRCA1NM_007294.3(BRCA1): c.134+2T> GSNVPathogenicrs80358131GRCh37Chr 17, 41267741: 41267741
1292BRCA1NM_007294.3(BRCA1): c.134+3_134+6delAAGTdeletionPathogenicrs397508858GRCh37Chr 17, 41267737: 41267740
1293BRCA1NM_007294.3(BRCA1): c.135-1G> CSNVPathogenicrs80358158GRCh37Chr 17, 41258551: 41258551
1294BRCA1NM_007294.3(BRCA1): c.1352C> A (p.Ser451Ter)SNVPathogenicrs80356891GRCh37Chr 17, 41246196: 41246196
1295BRCA1NM_007294.3(BRCA1): c.1352C> G (p.Ser451Ter)SNVPathogenicrs80356891GRCh37Chr 17, 41246196: 41246196
1296BRCA1NM_007294.3(BRCA1): c.1371delA (p.Asp458Thrfs)deletionPathogenicrs397508861GRCh37Chr 17, 41246177: 41246177
1297BRCA1NM_007294.3(BRCA1): c.1374delC (p.Asp458Glufs)deletionPathogenicrs397508862GRCh37Chr 17, 41246174: 41246174
1298BRCA1NM_007294.3(BRCA1): c.1380dupA (p.Phe461Ilefs)duplicationPathogenicrs80357714GRCh37Chr 17, 41246168: 41246168
1299BRCA1NM_007294.3(BRCA1): c.1383delT (p.Phe461Leufs)deletionPathogenicrs80357879GRCh37Chr 17, 41246165: 41246165
1300BRCA1NM_007294.3(BRCA1): c.1386delG (p.Thr464Profs)deletionPathogenicrs80357722GRCh37Chr 17, 41246162: 41246162
1301BRCA1NM_007294.3(BRCA1): c.1386dupG (p.Lys463Glufs)duplicationPathogenicrs397508865GRCh37Chr 17, 41246162: 41246162
1302BRCA1NM_007294.3(BRCA1): c.1390delA (p.Thr464Profs)deletionPathogenicrs80357770GRCh37Chr 17, 41246158: 41246158
1303BRCA1NM_007294.3(BRCA1): c.1392delC (p.Tyr465Ilefs)deletionPathogenicrs397508868GRCh37Chr 17, 41246156: 41246156
1304BRCA1NM_007294.3(BRCA1): c.1399A> T (p.Lys467Ter)SNVPathogenicrs80357279GRCh37Chr 17, 41246149: 41246149
1305BRCA1NM_007294.3(BRCA1): c.1403delA (p.Lys468Argfs)deletionPathogenicrs397508870GRCh37Chr 17, 41246145: 41246145
1306BRCA1NM_007294.3(BRCA1): c.1405delG (p.Ala469Glnfs)deletionPathogenicrs397508871GRCh37Chr 17, 41246143: 41246143
1307BRCA1NM_007294.3(BRCA1): c.140G> A (p.Cys47Tyr)SNVPathogenicrs80357150GRCh37Chr 17, 41258545: 41258545
1308BRCA1NM_007294.3(BRCA1): c.140G> T (p.Cys47Phe)SNVLikely pathogenic, Pathogenicrs80357150GRCh37Chr 17, 41258545: 41258545
1309BRCA1NM_007294.3(BRCA1): c.1421T> G (p.Leu474Ter)SNVPathogenicrs80357490GRCh37Chr 17, 41246127: 41246127
1310BRCA1NM_007294.3(BRCA1): c.1439dupA (p.Asn480Lysfs)duplicationPathogenicrs80357505GRCh37Chr 17, 41246109: 41246109
1311BRCA1NM_007294.3(BRCA1): c.1444delA (p.Ile482Leufs)deletionPathogenicrs80357648GRCh37Chr 17, 41246104: 41246104
1312BRCA1NM_007294.3(BRCA1): c.144delG (p.Met48Ilefs)deletionPathogenicrs80357682GRCh37Chr 17, 41258541: 41258541
1313BRCA1NM_007294.3(BRCA1): c.1450G> T (p.Gly484Ter)SNVPathogenicrs80357304GRCh37Chr 17, 41246098: 41246098
1314BRCA1NM_007294.3(BRCA1): c.1465G> T (p.Glu489Ter)SNVPathogenicrs80357167GRCh37Chr 17, 41246083: 41246083
1315BRCA1NM_007294.3(BRCA1): c.1471C> T (p.Gln491Ter)SNVPathogenicrs62625303GRCh37Chr 17, 41246077: 41246077
1316BRCA1NM_007294.3(BRCA1): c.1483_1498del16 (p.Glu495Ilefs)deletionPathogenicrs397508872GRCh37Chr 17, 41246050: 41246065
1317BRCA1NM_007294.3(BRCA1): c.1492delC (p.Leu498Serfs)deletionPathogenicrs80357527GRCh37Chr 17, 41246056: 41246056
1318BRCA1NM_007294.3(BRCA1): c.1499delA (p.Asn500Ilefs)deletionPathogenicrs397508874GRCh37Chr 17, 41246049: 41246049
1319BRCA1NM_007294.3(BRCA1): c.1508delA (p.Lys503Serfs)deletionPathogenicrs80357506GRCh37Chr 17, 41246040: 41246040
1320BRCA1NM_007294.3(BRCA1): c.150delA (p.Lys50Asnfs)deletionPathogenicrs273897662GRCh37Chr 17, 41258535: 41258535
1321BRCA1NM_007294.3(BRCA1): c.1511dupG (p.Lys505Terfs)duplicationPathogenicrs80357817GRCh37Chr 17, 41246037: 41246037
1322BRCA1NM_007294.3(BRCA1): c.1513A> T (p.Lys505Ter)SNVPathogenicrs397508877GRCh37Chr 17, 41246035: 41246035
1323BRCA1NM_007294.3(BRCA1): c.1513_1514insT (p.Lys505Ilefs)insertionPathogenicrs397508878GRCh37Chr 17, 41246034: 41246035
1324BRCA1NM_007294.3(BRCA1): c.1523delC (p.Pro508Leufs)deletionPathogenicrs80357782GRCh37Chr 17, 41246025: 41246025
1325BRCA1NM_007294.3(BRCA1): c.1529C> G (p.Ser510Ter)SNVPathogenicrs80357427GRCh37Chr 17, 41246019: 41246019
1326BRCA1NM_007294.3(BRCA1): c.1530delA (p.Gly511Alafs)deletionPathogenicrs80357735GRCh37Chr 17, 41246018: 41246018
1327BRCA1NM_007294.3(BRCA1): c.1551delT (p.Phe517Leufs)deletionPathogenicrs80357630GRCh37Chr 17, 41245997: 41245997
1328BRCA1NM_007294.3(BRCA1): c.1576C> T (p.Gln526Ter)SNVPathogenicrs80356984GRCh37Chr 17, 41245972: 41245972
1329BRCA1NM_007294.3(BRCA1): c.1583_1589delCTCCTGA (p.Thr528Lysfs)deletionPathogenicrs80357613GRCh37Chr 17, 41245959: 41245965
1330BRCA1NM_007294.3(BRCA1): c.1600C> T (p.Gln534Ter)SNVPathogenicrs142074233GRCh37Chr 17, 41245948: 41245948
1331BRCA1NM_007294.3(BRCA1): c.1601dupA (p.Thr536Asnfs)duplicationPathogenicrs397508889GRCh37Chr 17, 41245947: 41245947
1332BRCA1NM_007294.3(BRCA1): c.1608_1611delTAAC (p.Asn537Lysfs)deletionPathogenicrs80357698GRCh37Chr 17, 41245937: 41245940
1333BRCA1NM_007294.3(BRCA1): c.160C> T (p.Gln54Ter)SNVPathogenicrs80356864GRCh37Chr 17, 41258525: 41258525
1334BRCA1NM_007294.3(BRCA1): c.1612C> T (p.Gln538Ter)SNVPathogenicrs80356893GRCh37Chr 17, 41245936: 41245936
1335BRCA1NM_007294.3(BRCA1): c.1621C> T (p.Gln541Ter)SNVPathogenicrs80356904GRCh37Chr 17, 41245927: 41245927
1336BRCA1NM_007294.3(BRCA1): c.1623dupG (p.Asn542Glufs)duplicationPathogenicrs397508891GRCh37Chr 17, 41245925: 41245925
1337BRCA1NM_007294.3(BRCA1): c.1630C> T (p.Gln544Ter)SNVPathogenicrs80356952GRCh37Chr 17, 41245918: 41245918
1338BRCA1NM_007294.3(BRCA1): c.1636_1654del19 (p.Met546Valfs)deletionPathogenicrs80359881GRCh37Chr 17, 41245894: 41245912
1339BRCA1NM_007294.3(BRCA1): c.1649delA (p.Asn550Ilefs)deletionPathogenicrs80357619GRCh37Chr 17, 41245899: 41245899
1340BRCA1NM_007294.3(BRCA1): c.1673_1674delAA (p.Lys558Argfs)deletionPathogenicrs397508896GRCh37Chr 17, 41245874: 41245875
1341BRCA1NM_007294.3(BRCA1): c.1713_1717delAGAAT (p.Glu572Thrfs)deletionPathogenicrs80357640GRCh37Chr 17, 41245831: 41245835
1342BRCA1NM_007294.3(BRCA1): c.1716delA (p.Glu572Aspfs)deletionPathogenicrs397508900GRCh37Chr 17, 41245832: 41245832
1343BRCA1NM_007294.3(BRCA1): c.1729G> T (p.Glu577Ter)SNVPathogenicrs397508903GRCh37Chr 17, 41245819: 41245819
1344BRCA1NM_007294.3(BRCA1): c.1729_1730delGA (p.Glu577Ilefs)deletionPathogenicrs80357834GRCh37Chr 17, 41245818: 41245819
1345BRCA1NM_007294.3(BRCA1): c.1747A> T (p.Lys583Ter)SNVPathogenicrs80356928GRCh37Chr 17, 41245801: 41245801
1346BRCA1NM_007294.3(BRCA1): c.1757delC (p.Pro586Leufs)deletionPathogenicrs80357723GRCh37Chr 17, 41245791: 41245791
1347BRCA1NM_007294.3(BRCA1): c.1772delT (p.Ile591Lysfs)deletionPathogenicrs80357901GRCh37Chr 17, 41245776: 41245776
1348BRCA1NM_007294.3(BRCA1): c.1789G> T (p.Glu597Ter)SNVPathogenicrs55650082GRCh37Chr 17, 41245759: 41245759
1349BRCA1NM_007294.3(BRCA1): c.178C> T (p.Gln60Ter)SNVPathogenicrs80357471GRCh37Chr 17, 41258507: 41258507
1350BRCA1NM_007294.3(BRCA1): c.1793T> A (p.Leu598Ter)SNVPathogenicrs80357118GRCh37Chr 17, 41245755: 41245755
1351BRCA1NM_007294.3(BRCA1): c.1793T> G (p.Leu598Ter)SNVPathogenicrs80357118GRCh37Chr 17, 41245755: 41245755
1352BRCA1NM_007294.3(BRCA1): c.179delA (p.Gln60Argfs)deletionPathogenicrs80357591GRCh37Chr 17, 41258506: 41258506
1353BRCA1NM_007294.3(BRCA1): c.1805delA (p.Asn602Ilefs)deletionPathogenicrs397508908GRCh37Chr 17, 41245743: 41245743
1354BRCA1NM_007294.3(BRCA1): c.1808C> G (p.Ser603Ter)SNVPathogenicrs397508909GRCh37Chr 17, 41245740: 41245740
1355BRCA1NM_007294.3(BRCA1): c.1819A> T (p.Lys607Ter)SNVPathogenicrs80357220GRCh37Chr 17, 41245729: 41245729
1356BRCA1NM_007294.3(BRCA1): c.181T> A (p.Cys61Ser)SNVPathogenicrs28897672GRCh37Chr 17, 41258504: 41258504
1357BRCA1NM_007294.3(BRCA1): c.1823_1826delAGAA (p.Lys608Ilefs)deletionPathogenicrs80357585GRCh37Chr 17, 41245722: 41245725
1358BRCA1NM_007294.3(BRCA1): c.1823delA (p.Lys608Argfs)deletionPathogenicrs397508911GRCh37Chr 17, 41245725: 41245725
1359BRCA1NM_007294.3(BRCA1): c.182_183delGT (p.Cys61Serfs)deletionPathogenicrs397508912GRCh37Chr 17, 41258502: 41258503
1360BRCA1NM_007294.3(BRCA1): c.1831delC (p.Leu611Terfs)deletionPathogenicrs397508913GRCh37Chr 17, 41245717: 41245717
1361BRCA1NM_007294.3(BRCA1): c.1837delA (p.Arg613Glyfs)deletionPathogenicrs80357652GRCh37Chr 17, 41245711: 41245711
1362BRCA1NM_007294.3(BRCA1): c.1840A> T (p.Lys614Ter)SNVPathogenicrs80357282GRCh37Chr 17, 41245708: 41245708
1363BRCA1NM_007294.3(BRCA1): c.1870G> T (p.Glu624Ter)SNVPathogenicrs80356950GRCh37Chr 17, 41245678: 41245678
1364BRCA1NM_007294.3(BRCA1): c.1874_1877dupTAGT (p.Val627Serfs)duplicationPathogenicrs80357516GRCh37Chr 17, 41245671: 41245674
1365BRCA1NM_007294.3(BRCA1): c.1881_1884delCAGT (p.Ser628Glufs)deletionPathogenicrs80357567GRCh37Chr 17, 41245664: 41245667
1366BRCA1NM_007294.3(BRCA1): c.188T> A (p.Leu63Ter)SNVPathogenicrs80357086GRCh37Chr 17, 41258497: 41258497
1367BRCA1NM_007294.3(BRCA1): c.1892dupT (p.Ser632Lysfs)duplicationPathogenicrs80357932GRCh37Chr 17, 41245656: 41245656
1368BRCA1NM_007294.3(BRCA1): c.1898delC (p.Pro633Hisfs)deletionPathogenicrs80357851GRCh37Chr 17, 41245650: 41245650
1369BRCA1NM_007294.3(BRCA1): c.189dupA (p.Cys64Metfs)duplicationPathogenicrs273897665GRCh37Chr 17, 41258496: 41258496
1370BRCA1NM_007294.3(BRCA1): c.1906delT (p.Cys636Valfs)deletionPathogenicrs397508916GRCh37Chr 17, 41245642: 41245642
1371BRCA1NM_007294.3(BRCA1): c.1912G> T (p.Glu638Ter)SNVPathogenicrs80357005GRCh37Chr 17, 41245636: 41245636
1372BRCA1NM_007294.3(BRCA1): c.1912delG (p.Glu638Asnfs)deletionPathogenicrs80357933GRCh37Chr 17, 41245636: 41245636
1373BRCA1NM_007294.3(BRCA1): c.1916T> A (p.Leu639Ter)SNVPathogenicrs80357267GRCh37Chr 17, 41245632: 41245632
1374BRCA1NM_007294.3(BRCA1): c.191G> A (p.Cys64Tyr)SNVPathogenicrs55851803GRCh37Chr 17, 41258494: 41258494
1375BRCA1NM_007294.3(BRCA1): c.1936delA (p.Ser646Alafs)deletionPathogenicrs397508919GRCh37Chr 17, 41245612: 41245612
1376BRCA1NM_007294.3(BRCA1): c.1938_1947delCAGTGAAGAG (p.Ser646Argfs)deletionPathogenicrs397508920GRCh37Chr 17, 41245601: 41245610
1377BRCA1NM_007294.3(BRCA1): c.1945G> T (p.Glu649Ter)SNVPathogenicrs80356907GRCh37Chr 17, 41245603: 41245603
1378BRCA1NM_007294.3(BRCA1): c.1949_1950delTA (p.Ile650Lysfs)deletionPathogenicrs397508921GRCh37Chr 17, 41245598: 41245599
1379BRCA1NM_007294.3(BRCA1): c.1952delA (p.Lys651Argfs)deletionPathogenicrs397508922GRCh37Chr 17, 41245596: 41245596
1380BRCA1NM_007294.3(BRCA1): c.1952dupA (p.Lys652Glufs)duplicationPathogenicrs80357885GRCh37Chr 17, 41245596: 41245596
1381BRCA1NM_007294.3(BRCA1): c.1953dupG (p.Lys652Glufs)duplicationPathogenicrs80357753GRCh37Chr 17, 41245595: 41245595
1382BRCA1NM_007294.3(BRCA1): c.1958_1961delAAAA (p.Lys653Serfs)deletionPathogenicrs397508923GRCh37Chr 17, 41245587: 41245590
1383BRCA1NM_007294.3(BRCA1): c.195delG (p.Asn66Metfs)deletionPathogenicrs80357869GRCh37Chr 17, 41258490: 41258490
1384BRCA1NM_007294.3(BRCA1): c.1960_1961delAA (p.Lys654Valfs)deletionPathogenicrs80357643GRCh37Chr 17, 41245587: 41245588
1385BRCA1NM_007294.3(BRCA1): c.1961dupA (p.Tyr655Valfs)duplicationPathogenicrs80357853GRCh37Chr 17, 41245587: 41245587
1386BRCA1NM_007294.3(BRCA1): c.1963_1964insG (p.Tyr655Terfs)insertionPathogenicrs397508924GRCh37Chr 17, 41245584: 41245585
1387BRCA1NM_007294.3(BRCA1): c.1969C> T (p.Gln657Ter)SNVPathogenicrs397508926GRCh37Chr 17, 41245579: 41245579
1388BRCA1NM_007294.3(BRCA1): c.1996delC (p.Leu666Tyrfs)deletionPathogenicrs80357922GRCh37Chr 17, 41245552: 41245552
1389BRCA1NM_007294.3(BRCA1): c.1999C> T (p.Gln667Ter)SNVPathogenicrs80356889GRCh37Chr 17, 41245549: 41245549
1390BRCA1NM_007294.3(BRCA1): c.1A> G (p.Met1Val)SNVPathogenicrs80357287GRCh37Chr 17, 41276113: 41276113
1391BRCA1NM_007294.3(BRCA1): c.2014A> T (p.Lys672Ter)SNVPathogenicrs397508929GRCh37Chr 17, 41245534: 41245534
1392BRCA1NM_007294.3(BRCA1): c.2017G> T (p.Glu673Ter)SNVPathogenicrs80357391GRCh37Chr 17, 41245531: 41245531
1393BRCA1NM_007294.3(BRCA1): c.2017delG (p.Glu673Asnfs)deletionPathogenicrs80357638GRCh37Chr 17, 41245531: 41245531
1394BRCA1NM_007294.3(BRCA1): c.2019delA (p.Glu673Aspfs)deletionPathogenicrs80357626GRCh37Chr 17, 41245529: 41245529
1395BRCA1NM_007294.3(BRCA1): c.2035A> T (p.Lys679Ter)SNVPathogenicrs80357082GRCh37Chr 17, 41245513: 41245513
1396BRCA1NM_007294.3(BRCA1): c.2037delGinsCC (p.Lys679Asnfs)indelPathogenicrs397508932GRCh37Chr 17, 41245511: 41245511
1397BRCA1NM_007294.3(BRCA1): c.2059C> T (p.Gln687Ter)SNVPathogenicrs273898674GRCh37Chr 17, 41245489: 41245489
1398BRCA1NM_007294.3(BRCA1): c.2063_2066delCAAG (p.Thr688Ilefs)deletionPathogenicrs397508935GRCh37Chr 17, 41245482: 41245485
1399BRCA1NM_007294.3(BRCA1): c.2074delC (p.His692Metfs)deletionPathogenicrs80357554GRCh37Chr 17, 41245474: 41245474
1400BRCA1NM_007294.3(BRCA1): c.2079_2080delCA (p.Asp693Glufs)deletionPathogenicrs80357773GRCh37Chr 17, 41245468: 41245469
1401BRCA1NM_007294.3(BRCA1): c.2105T> G (p.Leu702Ter)SNVPathogenicrs80357298GRCh37Chr 17, 41245443: 41245443
1402BRCA1NM_007294.3(BRCA1): c.2110_2111delAA (p.Asn704Cysfs)deletionPathogenicrs80357814GRCh37Chr 17, 41245437: 41245438
1403BRCA1NM_007294.3(BRCA1): c.212+1G> CSNVPathogenicrs80358042GRCh37Chr 17, 41258472: 41258472
1404BRCA1NM_007294.3(BRCA1): c.212+1G> TSNVPathogenicrs80358042GRCh37Chr 17, 41258472: 41258472
1405BRCA1NM_007294.3(BRCA1): c.212+2T> CSNVPathogenicrs80358026GRCh37Chr 17, 41258471: 41258471
1406BRCA1NM_007294.3(BRCA1): c.212+3A> GSNVPathogenicrs80358083GRCh37Chr 17, 41258470: 41258470
1407BRCA1NM_007294.3(BRCA1): c.2125_2126insA (p.Phe709Tyrfs)insertionPathogenicrs80357871GRCh37Chr 17, 41245422: 41245423
1408BRCA1NM_007294.3(BRCA1): c.2126_2127delTT (p.Phe709Tyrfs)deletionPathogenicrs397508939GRCh37Chr 17, 41245421: 41245422
1409BRCA1NM_007294.3(BRCA1): c.212G> A (p.Arg71Lys)SNVPathogenicrs80356913GRCh37Chr 17, 41258473: 41258473
1410BRCA1NM_007294.3(BRCA1): c.213-1G> ASNVPathogenicrs80358146GRCh37Chr 17, 41256974: 41256974
1411BRCA1NM_007294.3(BRCA1): c.213-2A> CSNVPathogenicrs397508940GRCh37Chr 17, 41256975: 41256975
1412BRCA1NM_007294.3(BRCA1): c.2142delT (p.Asn714Lysfs)deletionPathogenicrs273898679GRCh37Chr 17, 41245406: 41245406
1413BRCA1NM_007294.3(BRCA1): c.2155A> T (p.Lys719Ter)SNVPathogenicrs80357147GRCh37Chr 17, 41245393: 41245393
1414BRCA1NM_007294.3(BRCA1): c.2155_2168delAAAGAATTTGTCAA (p.Lys719Serfs)deletionPathogenicrs397508941GRCh37Chr 17, 41245380: 41245393
1415BRCA1NM_007294.3(BRCA1): c.2157dupA (p.Glu720Argfs)duplicationPathogenicrs80357715GRCh37Chr 17, 41245391: 41245391
1416BRCA1NM_007294.3(BRCA1): c.2176_2177delCT (p.Leu726Serfs)deletionPathogenicrs397508945GRCh37Chr 17, 41245371: 41245372
1417BRCA1NM_007294.3(BRCA1): c.2176delC (p.Leu726Phefs)deletionPathogenicrs80357668GRCh37Chr 17, 41245372: 41245372
1418BRCA1NM_007294.3(BRCA1): c.2188G> T (p.Glu730Ter)SNVPathogenicrs80357058GRCh37Chr 17, 41245360: 41245360
1419BRCA1NM_007294.3(BRCA1): c.2188_2201delGAAAAAGAAGAGAA (p.Glu730Thrfs)deletionPathogenicrs273898681GRCh37Chr 17, 41245347: 41245360
1420BRCA1NM_007294.3(BRCA1): c.2192_2196delAAGAA (p.Lys731Argfs)deletionPathogenicrs397508946GRCh37Chr 17, 41245352: 41245356
1421BRCA1NM_007294.3(BRCA1): c.2194G> T (p.Glu732Ter)SNVPathogenicrs80357426GRCh37Chr 17, 41245354: 41245354
1422BRCA1NM_007294.3(BRCA1): c.2197G> T (p.Glu733Ter)SNVPathogenicrs397508949GRCh37Chr 17, 41245351: 41245351
1423BRCA1NM_007294.3(BRCA1): c.2197_2201delGAGAA (p.Glu733Thrfs)deletionPathogenicrs80357507GRCh37Chr 17, 41245347: 41245351
1424BRCA1NM_007294.3(BRCA1): c.2202delA (p.Lys734Asnfs)deletionPathogenicrs80357982GRCh37Chr 17, 41245346: 41245346
1425BRCA1NM_007294.3(BRCA1): c.2203delC (p.Leu735Terfs)deletionPathogenicrs80357936GRCh37Chr 17, 41245345: 41245345
1426BRCA1NM_007294.3(BRCA1): c.2206delG (p.Glu736Lysfs)deletionPathogenicrs80357860GRCh37Chr 17, 41245342: 41245342
1427BRCA1NM_007294.3(BRCA1): c.220C> T (p.Gln74Ter)SNVPathogenicrs80357234GRCh37Chr 17, 41256966: 41256966
1428BRCA1NM_007294.3(BRCA1): c.2210delC (p.Thr737Lysfs)deletionPathogenicrs80357793GRCh37Chr 17, 41245338: 41245338
1429BRCA1NM_007294.3(BRCA1): c.2212_2215delGTTA (p.Val738Lysfs)deletionPathogenicrs397508951GRCh37Chr 17, 41245333: 41245336
1430BRCA1NM_007294.3(BRCA1): c.2215A> T (p.Lys739Ter)SNVPathogenicrs56329598GRCh37Chr 17, 41245333: 41245333
1431BRCA1NM_007294.3(BRCA1): c.2216_2217delAA (p.Lys739Serfs)deletionPathogenicrs397508952GRCh37Chr 17, 41245331: 41245332
1432BRCA1NM_007294.3(BRCA1): c.2236dupG (p.Asp746Glyfs)duplicationPathogenicrs80357909GRCh37Chr 17, 41245312: 41245312
1433BRCA1NM_007294.3(BRCA1): c.2241delC (p.Asp749Ilefs)deletionPathogenicrs80357650GRCh37Chr 17, 41245307: 41245307
1434BRCA1NM_007294.3(BRCA1): c.2241dupC (p.Lys748Glnfs)duplicationPathogenicrs397508953GRCh37Chr 17, 41245307: 41245307
1435BRCA1NM_007294.3(BRCA1): c.2248_2252delCTCAT (p.Leu750Valfs)deletionPathogenicrs397508954GRCh37Chr 17, 41245296: 41245300
1436BRCA1NM_007294.3(BRCA1): c.224_227delAAAG (p.Glu75Valfs)deletionPathogenicrs80357697GRCh37Chr 17, 41256959: 41256962
1437BRCA1NM_007294.3(BRCA1): c.2253_2254delGT (p.Met751Ilefs)deletionPathogenicrs80357602GRCh37Chr 17, 41245294: 41245295
1438BRCA1NM_007294.3(BRCA1): c.2263G> T (p.Glu755Ter)SNVPathogenicrs41286296GRCh37Chr 17, 41245285: 41245285
1439BRCA1NM_007294.3(BRCA1): c.2263delG (p.Glu755Lysfs)deletionPathogenicrs80357960GRCh37Chr 17, 41245285: 41245285
1440BRCA1NM_007294.3(BRCA1): c.2275C> T (p.Gln759Ter)SNVPathogenicrs80356999GRCh37Chr 17, 41245273: 41245273
1441BRCA1NM_007294.3(BRCA1): c.2283_2284delAA (p.Arg762Ilefs)deletionPathogenicrs80357657GRCh37Chr 17, 41245264: 41245265
1442BRCA1NM_007294.3(BRCA1): c.2292_2310dup19 (p.Leu771Argfs)duplicationPathogenicrs397508955GRCh37Chr 17, 41245238: 41245256
1443BRCA1NM_007294.3(BRCA1): c.2293G> T (p.Glu765Ter)SNVPathogenicrs80357449GRCh37Chr 17, 41245255: 41245255
1444BRCA1NM_007294.3(BRCA1): c.2309C> A (p.Ser770Ter)SNVPathogenicrs80357063GRCh37Chr 17, 41245239: 41245239
1445BRCA1NM_007294.3(BRCA1): c.2314delG (p.Val772Tyrfs)deletionPathogenicrs80357957GRCh37Chr 17, 41245234: 41245234
1446BRCA1NM_007294.3(BRCA1): c.2329delT (p.Tyr777Metfs)deletionPathogenicrs80357725GRCh37Chr 17, 41245219: 41245219
1447BRCA1NM_007294.3(BRCA1): c.232delA (p.Arg78Aspfs)deletionPathogenicrs80357884GRCh37Chr 17, 41256954: 41256954
1448BRCA1NM_007294.3(BRCA1): c.2331T> A (p.Tyr777Ter)SNVPathogenicrs80357444GRCh37Chr 17, 41245217: 41245217
1449BRCA1NM_007294.3(BRCA1): c.2338C> T (p.Gln780Ter)SNVPathogenicrs80356945GRCh37Chr 17, 41245210: 41245210
1450BRCA1NM_007294.3(BRCA1): c.2350_2351delTC (p.Ser784Valfs)deletionPathogenicrs397508960GRCh37Chr 17, 41245197: 41245198
1451BRCA1NM_007294.3(BRCA1): c.2351_2357delCGTTACT (p.Ser784Trpfs)deletionPathogenicrs80357820GRCh37Chr 17, 41245191: 41245197
1452BRCA1NM_007294.3(BRCA1): c.2354T> A (p.Leu785Ter)SNVPathogenicrs397508961GRCh37Chr 17, 41245194: 41245194
1453BRCA1NM_007294.3(BRCA1): c.2357delT (p.Leu786Argfs)deletionPathogenicrs397508963GRCh37Chr 17, 41245191: 41245191
1454BRCA1NM_007294.3(BRCA1): c.2359delG (p.Glu787Lysfs)deletionPathogenicrs397508964GRCh37Chr 17, 41245189: 41245189
1455BRCA1NM_007294.3(BRCA1): c.2359dupG (p.Glu787Glyfs)duplicationPathogenicrs80357739GRCh37Chr 17, 41245189: 41245189
1456BRCA1NM_007294.3(BRCA1): c.2389_2390delGA (p.Glu797Thrfs)deletionPathogenicrs80357695GRCh37Chr 17, 41245158: 41245159
1457BRCA1NM_007294.3(BRCA1): c.2390_2391delAA (p.Glu797Alafs)deletionPathogenicrs80357546GRCh37Chr 17, 41245157: 41245158
1458BRCA1NM_007294.3(BRCA1): c.2393delC (p.Pro798Glnfs)deletionPathogenicrs80357850GRCh37Chr 17, 41245155: 41245155
1459BRCA1NM_007294.3(BRCA1): c.2403T> A (p.Cys801Ter)SNVPathogenicrs80357381GRCh37Chr 17, 41245145: 41245145
1460BRCA1NM_007294.3(BRCA1): c.2405_2406delTG (p.Val802Glufs)deletionPathogenicrs80357706GRCh37Chr 17, 41245142: 41245143
1461BRCA1NM_007294.3(BRCA1): c.2406_2409delGAGT (p.Gln804Valfs)deletionPathogenicrs80357674GRCh37Chr 17, 41245139: 41245142
1462BRCA1NM_007294.3(BRCA1): c.2410C> T (p.Gln804Ter)SNVPathogenicrs80356982GRCh37Chr 17, 41245138: 41245138
1463BRCA1NM_007294.3(BRCA1): c.241C> T (p.Gln81Ter)SNVPathogenicrs80357350GRCh37Chr 17, 41256945: 41256945
1464BRCA1NM_007294.3(BRCA1): c.2429delA (p.Asn810Thrfs)deletionPathogenicrs397508967GRCh37Chr 17, 41245119: 41245119
1465BRCA1NM_007294.3(BRCA1): c.2434A> T (p.Lys812Ter)SNVPathogenicrs397508968GRCh37Chr 17, 41245114: 41245114
1466BRCA1NM_007294.3(BRCA1): c.2437G> T (p.Gly813Ter)SNVPathogenicrs80357186GRCh37Chr 17, 41245111: 41245111
1467BRCA1NM_007294.3(BRCA1): c.2443delA (p.Ile815Phefs)deletionPathogenicrs80357598GRCh37Chr 17, 41245105: 41245105
1468BRCA1NM_007294.3(BRCA1): c.2450delG (p.Gly817Valfs)deletionPathogenicrs80357679GRCh37Chr 17, 41245098: 41245098
1469BRCA1NM_007294.3(BRCA1): c.2468delG (p.Arg823Lysfs)deletionPathogenicrs80357799GRCh37Chr 17, 41245080: 41245080
1470BRCA1NM_007294.3(BRCA1): c.2476delA (p.Thr826Glnfs)deletionPathogenicrs80357631GRCh37Chr 17, 41245072: 41245072
1471BRCA1NM_007294.3(BRCA1): c.2477_2478delCA (p.Thr826Argfs)deletionPathogenicrs80357800GRCh37Chr 17, 41245070: 41245071
1472BRCA1NM_007294.3(BRCA1): c.2477delC (p.Thr826Lysfs)deletionPathogenicrs80357740GRCh37Chr 17, 41245071: 41245071
1473BRCA1NM_007294.3(BRCA1): c.2487delT (p.Phe829Leufs)deletionPathogenicrs80357658GRCh37Chr 17, 41245061: 41245061
1474BRCA1NM_007294.3(BRCA1): c.2487dupT (p.Lys830Terfs)duplicationPathogenicrs397508972GRCh37Chr 17, 41245061: 41245061
1475BRCA1NM_007294.3(BRCA1): c.2488_2497dupAAGTATCCAT (p.Leu833Terfs)duplicationPathogenicrs397508973GRCh37Chr 17, 41245051: 41245060
1476BRCA1NM_007294.3(BRCA1): c.2507_2508delAA (p.Glu836Glyfs)deletionPathogenicrs273899686GRCh37Chr 17, 41245040: 41245041
1477BRCA1NM_007294.3(BRCA1): c.2513delA (p.Asn838Thrfs)deletionPathogenicrs80357863GRCh37Chr 17, 41245035: 41245035
1478BRCA1NM_007294.3(BRCA1): c.2517_2518delCA (p.His839Glnfs)deletionPathogenicrs397508974GRCh37Chr 17, 41245030: 41245031
1479BRCA1NM_007294.3(BRCA1): c.2518delA (p.Ser840Valfs)deletionPathogenicrs397508975GRCh37Chr 17, 41245030: 41245030
1480BRCA1NM_007294.3(BRCA1): c.2545G> T (p.Glu849Ter)SNVPathogenicrs80356951GRCh37Chr 17, 41245003: 41245003
1481BRCA1NM_007294.3(BRCA1): c.2558dupA (p.Asp853Glufs)duplicationPathogenicrs80357835GRCh37Chr 17, 41244990: 41244990
1482BRCA1NM_007294.3(BRCA1): c.2560_2561dupGC (p.Gln855Leufs)duplicationPathogenicrs80357968GRCh37Chr 17, 41244987: 41244988
1483BRCA1NM_007294.3(BRCA1): c.2561_2565delCTCAG (p.Ala854Valfs)deletionPathogenicrs397508981GRCh37Chr 17, 41244983: 41244987
1484BRCA1NM_007294.3(BRCA1): c.2568T> G (p.Tyr856Ter)SNVPathogenicrs80356832GRCh37Chr 17, 41244980: 41244980
1485BRCA1NM_007294.3(BRCA1): c.2572C> T (p.Gln858Ter)SNVPathogenicrs397508983GRCh37Chr 17, 41244976: 41244976
1486BRCA1NM_007294.3(BRCA1): c.2591C> G (p.Ser864Ter)SNVPathogenicrs80357003GRCh37Chr 17, 41244957: 41244957
1487BRCA1NM_007294.3(BRCA1): c.2594delA (p.Lys865Serfs)deletionPathogenicrs80357756GRCh37Chr 17, 41244954: 41244954
1488BRCA1NM_007294.3(BRCA1): c.2611_2612delCC (p.Pro871Valfs)deletionPathogenicrs80357962GRCh37Chr 17, 41244936: 41244937
1489BRCA1NM_007294.3(BRCA1): c.2612_2613insT (p.Phe872Valfs)insertionPathogenicrs80357948GRCh37Chr 17, 41244935: 41244936
1490BRCA1NM_007294.3(BRCA1): c.2612delCinsTT (p.Pro871Leufs)indelPathogenicrs397508986GRCh37Chr 17, 41244936: 41244936
1491BRCA1NM_007294.3(BRCA1): c.2612dupC (p.Phe872Valfs)duplicationPathogenicrs80357948GRCh37Chr 17, 41244936: 41244936
1492BRCA1NM_007294.3(BRCA1): c.2617dupT (p.Ser873Phefs)duplicationPathogenicrs80357912GRCh37Chr 17, 41244932: 41244932
1493BRCA1NM_007294.3(BRCA1): c.2641G> T (p.Glu881Ter)SNVPathogenicrs397508988GRCh37Chr 17, 41244907: 41244907
1494BRCA1NM_007294.3(BRCA1): c.2643delA (p.Glu881Aspfs)deletionPathogenicrs397508989GRCh37Chr 17, 41244905: 41244905
1495BRCA1NM_007294.3(BRCA1): c.2646_2648delTGC (p.Cys882_Ser1217delinsTer)deletionPathogenicrs80357513GRCh37Chr 17, 41244900: 41244902
1496BRCA1NM_007294.3(BRCA1): c.2657_2658delCT (p.Ser886Cysfs)deletionPathogenicrs397508990GRCh37Chr 17, 41244890: 41244891
1497BRCA1NM_007294.3(BRCA1): c.2659dupG (p.Ala887Glyfs)duplicationPathogenicrs397508991GRCh37Chr 17, 41244889: 41244889
1498BRCA1NM_007294.3(BRCA1): c.2670delG (p.Ser891Profs)deletionPathogenicrs80357659GRCh37Chr 17, 41244878: 41244878
1499BRCA1NM_007294.3(BRCA1): c.2675_2678delTAAA (p.Leu892Terfs)deletionPathogenicrs80357518GRCh37Chr 17, 41244870: 41244873
1500BRCA1NM_007294.3(BRCA1): c.2682delA (p.Lys894Asnfs)deletionPathogenicrs397508996GRCh37Chr 17, 41244866: 41244866
1501BRCA1NM_007294.3(BRCA1): c.2683C> T (p.Gln895Ter)SNVPathogenicrs397508997GRCh37Chr 17, 41244865: 41244865
1502BRCA1NM_007294.3(BRCA1): c.2683_2686delCAAA (p.Gln895Valfs)deletionPathogenicrs397508998GRCh37Chr 17, 41244862: 41244865
1503BRCA1NM_007294.3(BRCA1): c.2685_2686delAA (p.Pro897Lysfs)deletionPathogenicrs80357636GRCh37Chr 17, 41244862: 41244863
1504BRCA1NM_007294.3(BRCA1): c.2694dupA (p.Val899Serfs)duplicationPathogenicrs80357549GRCh37Chr 17, 41244854: 41244854
1505BRCA1NM_007294.3(BRCA1): c.269_281delTTTGTGCTTTTCA (p.Ile90Serfs)deletionPathogenicrs80359879GRCh37Chr 17, 41256905: 41256917
1506BRCA1NM_007294.3(BRCA1): c.2702_2703delTT (p.Phe901Terfs)deletionPathogenicrs80357899GRCh37Chr 17, 41244845: 41244846
1507BRCA1NM_007294.3(BRCA1): c.2709delT (p.Cys903Trpfs)deletionPathogenicrs80357594GRCh37Chr 17, 41244839: 41244839
1508BRCA1NM_007294.3(BRCA1): c.2713C> T (p.Gln905Ter)SNVPathogenicrs397509002GRCh37Chr 17, 41244835: 41244835
1509BRCA1NM_007294.3(BRCA1): c.2719_2722delGAAG (p.Glu907Lysfs)deletionPathogenicrs80357731GRCh37Chr 17, 41244826: 41244829
1510BRCA1NM_007294.3(BRCA1): c.2722G> T (p.Glu908Ter)SNVPathogenicrs80356978GRCh37Chr 17, 41244826: 41244826
1511BRCA1NM_007294.3(BRCA1): c.2726_2730delATCAA (p.Asn909Argfs)deletionPathogenicrs80357712GRCh37Chr 17, 41244818: 41244822
1512BRCA1NM_007294.3(BRCA1): c.2726delA (p.Asn909Ilefs)deletionPathogenicrs80357614GRCh37Chr 17, 41244822: 41244822
1513BRCA1NM_007294.3(BRCA1): c.2726dupA (p.Asn909Lysfs)duplicationPathogenicrs80357685GRCh37Chr 17, 41244822: 41244822
1514BRCA1NM_007294.3(BRCA1): c.2727_2730delTCAA (p.Asn909Lysfs)deletionPathogenicrs80357605GRCh37Chr 17, 41244818: 41244821
1515BRCA1NM_007294.3(BRCA1): c.2728delC (p.Gln910Lysfs)deletionPathogenicrs397509005GRCh37Chr 17, 41244820: 41244820
1516BRCA1NM_007294.3(BRCA1): c.2740G> T (p.Glu914Ter)SNVPathogenicrs80357419GRCh37Chr 17, 41244808: 41244808
1517BRCA1NM_007294.3(BRCA1): c.2744_2745delCT (p.Ser915Terfs)deletionPathogenicrs80357540GRCh37Chr 17, 41244803: 41244804
1518BRCA1NM_007294.3(BRCA1): c.2749dupA (p.Ile917Asnfs)duplicationPathogenicrs80357942GRCh37Chr 17, 41244799: 41244799
1519BRCA1NM_007294.3(BRCA1): c.2761C> T (p.Gln921Ter)SNVPathogenicrs80357377GRCh37Chr 17, 41244787: 41244787
1520BRCA1NM_007294.3(BRCA1): c.2762delA (p.Gln921Argfs)deletionPathogenicrs80357703GRCh37Chr 17, 41244786: 41244786
1521BRCA1NM_007294.3(BRCA1): c.2764_2767delACAG (p.Thr922Leufs)deletionPathogenicrs80357822GRCh37Chr 17, 41244781: 41244784
1522BRCA1NM_007294.3(BRCA1): c.2766delA (p.Val923Leufs)deletionPathogenicrs80357812GRCh37Chr 17, 41244782: 41244782
1523BRCA1NM_007294.3(BRCA1): c.2767_2770delGTTA (p.Val923Ilefs)deletionPathogenicrs80357661GRCh37Chr 17, 41244778: 41244781
1524BRCA1NM_007294.3(BRCA1): c.2796_2799delTGGT (p.Gly933Argfs)deletionPathogenicrs80357840GRCh37Chr 17, 41244749: 41244752
1525BRCA1NM_007294.3(BRCA1): c.2800C> T (p.Gln934Ter)SNVPathogenicrs80357223GRCh37Chr 17, 41244748: 41244748
1526BRCA1NM_007294.3(BRCA1): c.2805delA (p.Asp936Ilefs)deletionPathogenicrs397509012GRCh37Chr 17, 41244743: 41244743
1527BRCA1NM_007294.3(BRCA1): c.2808_2811delTAAG (p.Lys937Glnfs)deletionPathogenicrs397509013GRCh37Chr 17, 41244737: 41244740
1528BRCA1NM_007294.3(BRCA1): c.2812_2813delCCinsG (p.Pro938Glufs)indelPathogenicrs273899689GRCh37Chr 17, 41244735: 41244736
1529BRCA1NM_007294.3(BRCA1): c.2832T> A (p.Cys944Ter)SNVPathogenicrs80357458GRCh37Chr 17, 41244716: 41244716
1530BRCA1NM_007294.3(BRCA1): c.2834_2835delGT (p.Ser945Asnfs)deletionPathogenicrs397509015GRCh37Chr 17, 41244713: 41244714
1531BRCA1NM_007294.3(BRCA1): c.2834_2836delGTAinsC (p.Ser945Thrfs)indelPathogenicrs386134270GRCh37Chr 17, 41244712: 41244714
1532BRCA1NM_007294.3(BRCA1): c.2835dupT (p.Ile946Tyrfs)duplicationPathogenicrs80357519GRCh37Chr 17, 41244713: 41244713
1533BRCA1NM_007294.3(BRCA1): c.2836_2837delAT (p.Ile946Glnfs)deletionPathogenicrs397509016GRCh37Chr 17, 41244711: 41244712
1534BRCA1NM_007294.3(BRCA1): c.2840_2841delAA (p.Lys947Argfs)deletionPathogenicrs80357984GRCh37Chr 17, 41244707: 41244708
1535BRCA1NM_007294.3(BRCA1): c.2856_2857delTT (p.Phe952Leufs)deletionPathogenicrs397509019GRCh37Chr 17, 41244691: 41244692
1536BRCA1NM_007294.3(BRCA1): c.2864C> A (p.Ser955Ter)SNVPathogenicrs80357295GRCh37Chr 17, 41244684: 41244684
1537BRCA1NM_007294.3(BRCA1): c.2866_2870delTCTCA (p.Ser956Valfs)deletionPathogenicrs80357819GRCh37Chr 17, 41244678: 41244682
1538BRCA1NM_007294.3(BRCA1): c.2869C> T (p.Gln957Ter)SNVPathogenicrs80356973GRCh37Chr 17, 41244679: 41244679
1539BRCA1NM_007294.3(BRCA1): c.2887delA (p.Thr963Leufs)deletionPathogenicrs80357559GRCh37Chr 17, 41244661: 41244661
1540BRCA1NM_007294.3(BRCA1): c.290_291delCA (p.Thr97Argfs)deletionPathogenicrs80357738GRCh37Chr 17, 41256895: 41256896
1541BRCA1NM_007294.3(BRCA1): c.2910delA (p.Lys970Asnfs)deletionPathogenicrs80357893GRCh37Chr 17, 41244638: 41244638
1542BRCA1NM_007294.3(BRCA1): c.2914G> T (p.Gly972Ter)SNVPathogenicrs397509023GRCh37Chr 17, 41244634: 41244634
1543BRCA1NM_007294.3(BRCA1): c.2915delG (p.Gly972Aspfs)deletionPathogenicrs80357573GRCh37Chr 17, 41244633: 41244633
1544BRCA1NM_007294.3(BRCA1): c.2920_2921delTT (p.Leu974Thrfs)deletionPathogenicrs80357611GRCh37Chr 17, 41244627: 41244628
1545BRCA1NM_007294.3(BRCA1): c.2921T> A (p.Leu974Ter)SNVPathogenicrs80356872GRCh37Chr 17, 41244627: 41244627
1546BRCA1NM_007294.3(BRCA1): c.2923C> T (p.Gln975Ter)SNVPathogenicrs80357497GRCh37Chr 17, 41244625: 41244625
1547BRCA1NM_007294.3(BRCA1): c.2934delT (p.Arg979Valfs)deletionPathogenicrs80357741GRCh37Chr 17, 41244614: 41244614
1548BRCA1NM_007294.3(BRCA1): c.2952delT (p.Ile986Serfs)deletionPathogenicrs80357627GRCh37Chr 17, 41244596: 41244596
1549BRCA1NM_007294.3(BRCA1): c.2952dupT (p.Pro985Serfs)duplicationPathogenicrs397509026GRCh37Chr 17, 41244596: 41244596
1550BRCA1NM_007294.3(BRCA1): c.2955delC (p.Ile986Serfs)deletionPathogenicrs397509027GRCh37Chr 17, 41244593: 41244593
1551BRCA1NM_007294.3(BRCA1): c.2963C> A (p.Ser988Ter)SNVPathogenicrs397507206GRCh37Chr 17, 41244585: 41244585
1552BRCA1NM_007294.3(BRCA1): c.2973_2979delAACTAAA (p.Lys991Asnfs)deletionPathogenicrs397509030GRCh37Chr 17, 41244569: 41244575
1553BRCA1NM_007294.3(BRCA1): c.2980delT (p.Cys994Valfs)deletionPathogenicrs80357502GRCh37Chr 17, 41244568: 41244568
1554BRCA1NM_007294.3(BRCA1): c.2989_2990dupAA (p.Asn997Lysfs)duplicationPathogenicrs80357829GRCh37Chr 17, 41244558: 41244559
1555BRCA1NM_007294.3(BRCA1): c.2990delA (p.Asn997Ilefs)deletionPathogenicrs397509032GRCh37Chr 17, 41244558: 41244558
1556BRCA1NM_007294.3(BRCA1): c.2999delA (p.Glu1000Glyfs)deletionPathogenicrs80357991GRCh37Chr 17, 41244549: 41244549
1557BRCA1NM_007294.3(BRCA1): c.2T> C (p.Met1Thr)SNVPathogenicrs80357111GRCh37Chr 17, 41276112: 41276112
1558BRCA1NM_007294.3(BRCA1): c.2T> G (p.Met1Arg)SNVPathogenicrs80357111GRCh37Chr 17, 41276112: 41276112
1559BRCA1NM_007294.3(BRCA1): c.3008_3009delTT (p.Phe1003Terfs)deletionPathogenicrs80357617GRCh37Chr 17, 41244539: 41244540
1560BRCA1NM_007294.3(BRCA1): c.3013delG (p.Glu1005Asnfs)deletionPathogenicrs80357937GRCh37Chr 17, 41244535: 41244535
1561BRCA1NM_007294.3(BRCA1): c.3018_3021delTTCA (p.His1006Glnfs)deletionPathogenicrs80357749GRCh37Chr 17, 41244527: 41244530
1562BRCA1NM_007294.3(BRCA1): c.302-1G> ASNVPathogenicrs80358116GRCh37Chr 17, 41256279: 41256279
1563BRCA1NM_007294.3(BRCA1): c.302-1G> CSNVPathogenicrs80358116GRCh37Chr 17, 41256279: 41256279
1564BRCA1NM_007294.3(BRCA1): c.302-2A> GSNVPathogenicrs80358011GRCh37Chr 17, 41256280: 41256280
1565BRCA1NM_007294.3(BRCA1): c.302-2delAdeletionPathogenicrs273899695GRCh37Chr 17, 41256280: 41256280
1566BRCA1NM_007294.3(BRCA1): c.3020C> G (p.Ser1007Ter)SNVPathogenicrs80357168GRCh37Chr 17, 41244528: 41244528
1567BRCA1NM_007294.3(BRCA1): c.3026C> A (p.Ser1009Ter)SNVPathogenicrs273899696GRCh37Chr 17, 41244522: 41244522
1568BRCA1NM_007294.3(BRCA1): c.3029_3030delCT (p.Pro1010Argfs)deletionPathogenicrs80357510GRCh37Chr 17, 41244518: 41244519
1569BRCA1NM_007294.3(BRCA1): c.303T> G (p.Tyr101Ter)SNVPathogenicrs80356936GRCh37Chr 17, 41256277: 41256277
1570BRCA1NM_007294.3(BRCA1): c.3048_3052dupTGAGA (p.Asn1018Metfs)duplicationPathogenicrs80357856GRCh37Chr 17, 41244496: 41244500
1571BRCA1NM_007294.3(BRCA1): c.3049G> T (p.Glu1017Ter)SNVPathogenicrs80357004GRCh37Chr 17, 41244499: 41244499
1572BRCA1NM_007294.3(BRCA1): c.3084_3094delTAATAACATTA (p.Asn1029Argfs)deletionPathogenicrs80357647GRCh37Chr 17, 41244454: 41244464
1573BRCA1NM_007294.3(BRCA1): c.3097G> T (p.Glu1033Ter)SNVPathogenicrs273899698GRCh37Chr 17, 41244451: 41244451
1574BRCA1NM_007294.3(BRCA1): c.3107_3112delTTAAAG (p.Phe1036_Cys1372delinsTer)deletionPathogenicrs80357920GRCh37Chr 17, 41244436: 41244441
1575BRCA1NM_007294.3(BRCA1): c.3108delT (p.Phe1036Leufs)deletionPathogenicrs80357841GRCh37Chr 17, 41244440: 41244440
1576BRCA1NM_007294.3(BRCA1): c.3108dupT (p.Lys1037Terfs)duplicationPathogenicrs273899699GRCh37Chr 17, 41244440: 41244440
1577BRCA1NM_007294.3(BRCA1): c.3122C> G (p.Ser1041Ter)SNVPathogenicrs397509035GRCh37Chr 17, 41244426: 41244426
1578BRCA1NM_007294.3(BRCA1): c.3145delT (p.Ser1049Profs)deletionPathogenicrs397509038GRCh37Chr 17, 41244403: 41244403
1579BRCA1NM_007294.3(BRCA1): c.3155delA (p.Asn1052Metfs)deletionPathogenicrs397509040GRCh37Chr 17, 41244393: 41244393
1580BRCA1NM_007294.3(BRCA1): c.3168delC (p.Ser1057Valfs)deletionPathogenicrs397509044GRCh37Chr 17, 41244380: 41244380
1581BRCA1NM_007294.3(BRCA1): c.3178G> T (p.Glu1060Ter)SNVPathogenicrs80357424GRCh37Chr 17, 41244370: 41244370
1582BRCA1NM_007294.3(BRCA1): c.317delA (p.Asn106Ilefs)deletionPathogenicrs80357950GRCh37Chr 17, 41256263: 41256263
1583BRCA1NM_007294.3(BRCA1): c.3181delA (p.Ile1061Terfs)deletionPathogenicrs80357702GRCh37Chr 17, 41244367: 41244367
1584BRCA1NM_007294.3(BRCA1): c.3188_3189delCCinsG (p.Ser1063Terfs)indelPathogenicrs273899701GRCh37Chr 17, 41244359: 41244360
1585BRCA1NM_007294.3(BRCA1): c.3193dupG (p.Asp1065Glyfs)duplicationPathogenicrs80357511GRCh37Chr 17, 41244355: 41244355
1586BRCA1NM_007294.3(BRCA1): c.3214delC (p.Leu1072Terfs)deletionPathogenicrs80357923GRCh37Chr 17, 41244334: 41244334
1587BRCA1NM_007294.3(BRCA1): c.321delT (p.Phe107Leufs)deletionPathogenicrs80357544GRCh37Chr 17, 41256259: 41256259
1588BRCA1NM_007294.3(BRCA1): c.3226delA (p.Arg1076Glufs)deletionPathogenicrs273899703GRCh37Chr 17, 41244322: 41244322
1589BRCA1NM_007294.3(BRCA1): c.3239T> A (p.Leu1080Ter)SNVPathogenicrs80357145GRCh37Chr 17, 41244309: 41244309
1590BRCA1NM_007294.3(BRCA1): c.3253dupA (p.Arg1085Lysfs)duplicationPathogenicrs80357517GRCh37Chr 17, 41244295: 41244295
1591BRCA1NM_007294.3(BRCA1): c.3254_3255dupGA (p.Leu1086Aspfs)duplicationPathogenicrs80357624GRCh37Chr 17, 41244293: 41244294
1592BRCA1NM_007294.3(BRCA1): c.3255dupA (p.Leu1086Ilefs)duplicationPathogenicrs80357624GRCh37Chr 17, 41244293: 41244293
1593BRCA1NM_007294.3(BRCA1): c.3257T> A (p.Leu1086Ter)SNVPathogenicrs80357006GRCh37Chr 17, 41244291: 41244291
1594BRCA1NM_007294.3(BRCA1): c.3257T> G (p.Leu1086Ter)SNVPathogenicrs80357006GRCh37Chr 17, 41244291: 41244291
1595BRCA1NM_007294.3(BRCA1): c.3257dupT (p.Leu1086Phefs)duplicationPathogenicrs80357858GRCh37Chr 17, 41244291: 41244291
1596BRCA1NM_007294.3(BRCA1): c.3262delG (p.Val1088Phefs)deletionPathogenicrs397509049GRCh37Chr 17, 41244286: 41244286
1597BRCA1NM_007294.3(BRCA1): c.3268C> T (p.Gln1090Ter)SNVPathogenicrs80357402GRCh37Chr 17, 41244280: 41244280
1598BRCA1NM_007294.3(BRCA1): c.3279delC (p.Tyr1094Ilefs)deletionPathogenicrs397509050GRCh37Chr 17, 41244269: 41244269
1599BRCA1NM_007294.3(BRCA1): c.3285delA (p.Lys1095Asnfs)deletionPathogenicrs397509051GRCh37Chr 17, 41244263: 41244263
1600BRCA1NM_007294.3(BRCA1): c.3286C> T (p.Gln1096Ter)SNVPathogenicrs80357485GRCh37Chr 17, 41244262: 41244262
1601BRCA1NM_007294.3(BRCA1): c.3286delC (p.Gln1096Lysfs)deletionPathogenicrs80357533GRCh37Chr 17, 41244262: 41244262
1602BRCA1NM_007294.3(BRCA1): c.3288_3289delAA (p.Leu1098Serfs)deletionPathogenicrs80357686GRCh37Chr 17, 41244259: 41244260
1603BRCA1NM_007294.3(BRCA1): c.3292_3293delCT (p.Leu1098Serfs)deletionPathogenicrs80357992GRCh37Chr 17, 41244255: 41244256
1604BRCA1NM_007294.3(BRCA1): c.3296delC (p.Pro1099Leufs)deletionPathogenicrs80357815GRCh37Chr 17, 41244252: 41244252
1605BRCA1NM_007294.3(BRCA1): c.329_330delAG (p.Lys110Argfs)deletionPathogenicrs80357754GRCh37Chr 17, 41256250: 41256251
1606BRCA1NM_007294.3(BRCA1): c.329dupA (p.Glu111Glyfs)duplicationPathogenicrs80357604GRCh37Chr 17, 41256251: 41256251
1607BRCA1NM_007294.3(BRCA1): c.32_33insC (p.Gln12Thrfs)insertionPathogenicrs80357811GRCh37Chr 17, 41276081: 41276082
1608BRCA1NM_007294.3(BRCA1): c.3309T> A (p.Cys1103Ter)SNVPathogenicrs80357317GRCh37Chr 17, 41244239: 41244239
1609BRCA1NM_007294.3(BRCA1): c.3314delA (p.His1105Leufs)deletionPathogenicrs397509054GRCh37Chr 17, 41244234: 41244234
1610BRCA1NM_007294.3(BRCA1): c.3319G> T (p.Glu1107Ter)SNVPathogenicrs80357106GRCh37Chr 17, 41244229: 41244229
1611BRCA1NM_007294.3(BRCA1): c.3323_3326delTAAA (p.Ile1108Lysfs)deletionPathogenicrs80357763GRCh37Chr 17, 41244222: 41244225
1612BRCA1NM_007294.3(BRCA1): c.3325_3329delAAAAA (p.Lys1109Alafs)deletionPathogenicrs80357680GRCh37Chr 17, 41244219: 41244223
1613BRCA1NM_007294.3(BRCA1): c.3326_3329delAAAA (p.Lys1109Serfs)deletionPathogenicrs80357575GRCh37Chr 17, 41244219: 41244222
1614BRCA1NM_007294.3(BRCA1): c.3329_3330delAG (p.Lys1110Thrfs)deletionPathogenicrs80357525GRCh37Chr 17, 41244218: 41244219
1615BRCA1NM_007294.3(BRCA1): c.3329delA (p.Lys1110Serfs)deletionPathogenicrs397509056GRCh37Chr 17, 41244219: 41244219
1616BRCA1NM_007294.3(BRCA1): c.3329dupA (p.Gln1111Alafs)duplicationPathogenicrs80357692GRCh37Chr 17, 41244219: 41244219
1617BRCA1NM_007294.3(BRCA1): c.3331C> T (p.Gln1111Ter)SNVPathogenicrs80357089GRCh37Chr 17, 41244217: 41244217
1618BRCA1NM_007294.3(BRCA1): c.3333_3336delAGAA (p.Gln1111Hisfs)deletionPathogenicrs397509057GRCh37Chr 17, 41244212: 41244215
1619BRCA1NM_007294.3(BRCA1): c.3333delA (p.Glu1112Asnfs)deletionPathogenicrs80357966GRCh37Chr 17, 41244215: 41244215
1620BRCA1NM_007294.3(BRCA1): c.3339T> G (p.Tyr1113Ter)SNVPathogenicrs80357421GRCh37Chr 17, 41244209: 41244209
1621BRCA1NM_007294.3(BRCA1): c.3340G> T (p.Glu1114Ter)SNVPathogenicrs80357278GRCh37Chr 17, 41244208: 41244208
1622BRCA1NM_007294.3(BRCA1): c.3342_3345delAGAA (p.Glu1115Terfs)deletionPathogenicrs397509058GRCh37Chr 17, 41244203: 41244206
1623BRCA1NM_007294.3(BRCA1): c.3343delG (p.Glu1115Lysfs)deletionPathogenicrs273899705GRCh37Chr 17, 41244205: 41244205
1624BRCA1NM_007294.3(BRCA1): c.3354_3355delGA (p.Gln1118Hisfs)deletionPathogenicrs397509059GRCh37Chr 17, 41244193: 41244194
1625BRCA1NM_007294.3(BRCA1): c.3359_3360delTT (p.Val1120Glufs)deletionPathogenicrs80357843GRCh37Chr 17, 41244188: 41244189
1626BRCA1NM_007294.3(BRCA1): c.3362delA (p.Asn1121Ilefs)deletionPathogenicrs80357865GRCh37Chr 17, 41244186: 41244186
1627BRCA1NM_007294.3(BRCA1): c.3365_3366delCA (p.Thr1122Argfs)deletionPathogenicrs80357892GRCh37Chr 17, 41244182: 41244183
1628BRCA1NM_007294.3(BRCA1): c.3375_3376delTC (p.Pro1126Ilefs)deletionPathogenicrs80357828GRCh37Chr 17, 41244172: 41244173
1629BRCA1NM_007294.3(BRCA1): c.3377delC (p.Pro1126Hisfs)deletionPathogenicrs397509061GRCh37Chr 17, 41244171: 41244171
1630BRCA1NM_007294.3(BRCA1): c.3390delA (p.Asp1131Ilefs)deletionPathogenicrs80357900GRCh37Chr 17, 41244158: 41244158
1631BRCA1NM_007294.3(BRCA1): c.3397_3398delTT (p.Leu1133Argfs)deletionPathogenicrs80357577GRCh37Chr 17, 41244150: 41244151
1632BRCA1NM_007294.3(BRCA1): c.3398T> A (p.Leu1133Ter)SNVPathogenicrs80356971GRCh37Chr 17, 41244150: 41244150
1633BRCA1NM_007294.3(BRCA1): c.3398T> G (p.Leu1133Ter)SNVPathogenicrs80356971GRCh37Chr 17, 41244150: 41244150
1634BRCA1NM_007294.3(BRCA1): c.3403C> T (p.Gln1135Ter)SNVPathogenicrs80357136GRCh37Chr 17, 41244145: 41244145
1635BRCA1NM_007294.3(BRCA1): c.3417delT (p.Ser1139Argfs)deletionPathogenicrs273899706GRCh37Chr 17, 41244131: 41244131
1636BRCA1NM_007294.3(BRCA1): c.3428delCinsTA (p.Ser1143Leufs)indelPathogenicrs397509066GRCh37Chr 17, 41244120: 41244120
1637BRCA1NM_007294.3(BRCA1): c.342_343delTC (p.Pro115Terfs)deletionPathogenicrs80357881GRCh37Chr 17, 41256237: 41256238
1638BRCA1NM_007294.3(BRCA1): c.3430C> T (p.Gln1144Ter)SNVPathogenicrs80357369GRCh37Chr 17, 41244118: 41244118
1639BRCA1NM_007294.3(BRCA1): c.3436_3439delTGTT (p.Cys1146Leufs)deletionPathogenicrs397509067GRCh37Chr 17, 41244109: 41244112
1640BRCA1NM_007294.3(BRCA1): c.3472G> T (p.Glu1158Ter)SNVPathogenicrs397509072GRCh37Chr 17, 41244076: 41244076
1641BRCA1NM_007294.3(BRCA1): c.3477_3479delAAAinsC (p.Lys1160Glyfs)indelPathogenicrs273899707GRCh37Chr 17, 41244069: 41244071
1642BRCA1NM_007294.3(BRCA1): c.3477_3480delAAAG (p.Ile1159Metfs)deletionPathogenicrs80357781GRCh37Chr 17, 41244068: 41244071
1643BRCA1NM_007294.3(BRCA1): c.3494_3495delTT (p.Phe1165Cysfs)deletionPathogenicrs397509076GRCh37Chr 17, 41244053: 41244054
1644BRCA1NM_007294.3(BRCA1): c.34C> T (p.Gln12Ter)SNVPathogenicrs80357134GRCh37Chr 17, 41276080: 41276080
1645BRCA1NM_007294.3(BRCA1): c.3514G> T (p.Glu1172Ter)SNVPathogenicrs397509079GRCh37Chr 17, 41244034: 41244034
1646BRCA1NM_007294.3(BRCA1): c.3531delT (p.Phe1177Leufs)deletionPathogenicrs80357621GRCh37Chr 17, 41244017: 41244017
1647BRCA1NM_007294.3(BRCA1): c.3544C> T (p.Gln1182Ter)SNVPathogenicrs80357296GRCh37Chr 17, 41244004: 41244004
1648BRCA1NM_007294.3(BRCA1): c.3549_3550delAGinsT (p.Lys1183Asnfs)indelPathogenicrs273899709GRCh37Chr 17, 41243998: 41243999
1649BRCA1NM_007294.3(BRCA1): c.3553G> T (p.Glu1185Ter)SNVPathogenicrs397509081GRCh37Chr 17, 41243995: 41243995
1650BRCA1NM_007294.3(BRCA1): c.3569_3570delCT (p.Pro1190Glnfs)deletionPathogenicrs80357845GRCh37Chr 17, 41243978: 41243979
1651BRCA1NM_007294.3(BRCA1): c.3578dupT (p.Thr1194Hisfs)duplicationPathogenicrs397509083GRCh37Chr 17, 41243970: 41243970
1652BRCA1NM_007294.3(BRCA1): c.3580delA (p.Thr1194Profs)deletionPathogenicrs80357663GRCh37Chr 17, 41243968: 41243968
1653BRCA1NM_007294.3(BRCA1): c.3583delC (p.His1195Ilefs)deletionPathogenicrs273900710GRCh37Chr 17, 41243965: 41243965
1654BRCA1NM_007294.3(BRCA1): c.3586dupA (p.Thr1196Asnfs)duplicationPathogenicrs80357531GRCh37Chr 17, 41243962: 41243962
1655BRCA1NM_007294.3(BRCA1): c.3593T> A (p.Leu1198Ter)SNVPathogenicrs397509085GRCh37Chr 17, 41243955: 41243955
1656BRCA1NM_007294.3(BRCA1): c.3596_3602delCTCAGGG (p.Ala1199Valfs)deletionPathogenicrs397509086GRCh37Chr 17, 41243946: 41243952
1657BRCA1NM_007294.3(BRCA1): c.3598C> T (p.Gln1200Ter)SNVPathogenicrs62625307GRCh37Chr 17, 41243950: 41243950
1658BRCA1NM_007294.3(BRCA1): c.3619A> T (p.Lys1207Ter)SNVPathogenicrs80357455GRCh37Chr 17, 41243929: 41243929
1659BRCA1NM_007294.3(BRCA1): c.3624dupA (p.Leu1209Ilefs)duplicationPathogenicrs80357512GRCh37Chr 17, 41243924: 41243924
1660BRCA1NM_007294.3(BRCA1): c.3626delT (p.Leu1209Terfs)deletionPathogenicrs80357571GRCh37Chr 17, 41243922: 41243922
1661BRCA1NM_007294.3(BRCA1): c.3628delG (p.Glu1210Serfs)deletionPathogenicrs397509090GRCh37Chr 17, 41243920: 41243920
1662BRCA1NM_007294.3(BRCA1): c.3629_3630delAG (p.Glu1210Valfs)deletionPathogenicrs80357589GRCh37Chr 17, 41243918: 41243919
1663BRCA1NM_007294.3(BRCA1): c.3640G> T (p.Glu1214Ter)SNVPathogenicrs80356923GRCh37Chr 17, 41243908: 41243908
1664BRCA1NM_007294.3(BRCA1): c.3642_3643delGA (p.Asn1215Leufs)deletionPathogenicrs80357805GRCh37Chr 17, 41243905: 41243906
1665BRCA1NM_007294.3(BRCA1): c.3661G> T (p.Glu1221Ter)SNVPathogenicrs80357310GRCh37Chr 17, 41243887: 41243887
1666BRCA1NM_007294.3(BRCA1): c.3664G> T (p.Glu1222Ter)SNVPathogenicrs80357356GRCh37Chr 17, 41243884: 41243884
1667BRCA1NM_007294.3(BRCA1): c.3668_3671dupTTCC (p.Cys1225Serfs)duplicationPathogenicrs80357797GRCh37Chr 17, 41243877: 41243880
1668BRCA1NM_007294.3(BRCA1): c.3676_3679delTTCC (p.Phe1226Asnfs)deletionPathogenicrs80357671GRCh37Chr 17, 41243869: 41243872
1669BRCA1NM_007294.3(BRCA1): c.3693dupT (p.Gly1232Trpfs)duplicationPathogenicrs397509092GRCh37Chr 17, 41243855: 41243855
1670BRCA1NM_007294.3(BRCA1): c.3699delA (p.Val1234Terfs)deletionPathogenicrs80357873GRCh37Chr 17, 41243849: 41243849
1671BRCA1NM_007294.3(BRCA1): c.3704_3707delACAA (p.Asn1235Ilefs)deletionPathogenicrs397509094GRCh37Chr 17, 41243841: 41243844
1672BRCA1NM_007294.3(BRCA1): c.3704delA (p.Asn1235Thrfs)deletionPathogenicrs397509095GRCh37Chr 17, 41243844: 41243844
1673BRCA1NM_007294.3(BRCA1): c.3706_3707delAA (p.Asn1236Tyrfs)deletionPathogenicrs80357666GRCh37Chr 17, 41243841: 41243842
1674BRCA1NM_007294.3(BRCA1): c.3706_3713delAATATACC (p.Asn1236Phefs)deletionPathogenicrs80357552GRCh37Chr 17, 41243835: 41243842
1675BRCA1NM_007294.3(BRCA1): c.3710delT (p.Ile1237Asnfs)deletionPathogenicrs80357564GRCh37Chr 17, 41243838: 41243838
1676BRCA1NM_007294.3(BRCA1): c.3715_3717delTCTinsC (p.Ser1239Profs)indelPathogenicrs273900714GRCh37Chr 17, 41243831: 41243833
1677BRCA1NM_007294.3(BRCA1): c.3718C> T (p.Gln1240Ter)SNVPathogenicrs80356903GRCh37Chr 17, 41243830: 41243830
1678BRCA1NM_007294.3(BRCA1): c.3722_3740del19 (p.Ser1241Leufs)deletionPathogenicrs80359882GRCh37Chr 17, 41243808: 41243826
1679BRCA1NM_007294.3(BRCA1): c.3736delA (p.Thr1246Profs)deletionPathogenicrs80357578GRCh37Chr 17, 41243812: 41243812
1680BRCA1NM_007294.3(BRCA1): c.3753T> A (p.Cys1251Ter)SNVPathogenicrs397509098GRCh37Chr 17, 41243795: 41243795
1681BRCA1NM_007294.3(BRCA1): c.3756_3757delGT (p.Ser1253Terfs)deletionPathogenicrs397509099GRCh37Chr 17, 41243791: 41243792
1682BRCA1NM_007294.3(BRCA1): c.3759dupT (p.Lys1254Terfs)duplicationPathogenicrs80357687GRCh37Chr 17, 41243789: 41243789
1683BRCA1NM_007294.3(BRCA1): c.375_376insT (p.Gln126Serfs)insertionPathogenicrs397509101GRCh37Chr 17, 41256204: 41256205
1684BRCA1NM_007294.3(BRCA1): c.3760_3761insT (p.Lys1254Ilefs)insertionPathogenicrs80357986GRCh37Chr 17, 41243787: 41243788
1685BRCA1NM_007294.3(BRCA1): c.3762_3763delGA (p.Asn1255Hisfs)deletionPathogenicrs80357645GRCh37Chr 17, 41243785: 41243786
1686BRCA1NM_007294.3(BRCA1): c.3763_3764delAA (p.Asn1255Hisfs)deletionPathogenicrs397509103GRCh37Chr 17, 41243784: 41243785
1687BRCA1NM_007294.3(BRCA1): c.3774_3775delGA (p.Asn1259Phefs)deletionPathogenicrs397509106GRCh37Chr 17, 41243773: 41243774
1688BRCA1NM_007294.3(BRCA1): c.3779delT (p.Leu1260Tyrfs)deletionPathogenicrs80357798GRCh37Chr 17, 41243769: 41243769
1689BRCA1NM_007294.3(BRCA1): c.3782delT (p.Leu1261Tyrfs)deletionPathogenicrs80357545GRCh37Chr 17, 41243766: 41243766
1690BRCA1NM_007294.3(BRCA1): c.3785C> A (p.Ser1262Ter)SNVPathogenicrs80357269GRCh37Chr 17, 41243763: 41243763
1691BRCA1NM_007294.3(BRCA1): c.3794delA (p.Asn1265Ilefs)deletionPathogenicrs80357767GRCh37Chr 17, 41243754: 41243754
1692BRCA1NM_007294.3(BRCA1): c.37_40delAATG (p.Asn13Serfs)deletionPathogenicrs80357530GRCh37Chr 17, 41276074: 41276077
1693BRCA1NM_007294.3(BRCA1): c.3813dupT (p.Asn1272Terfs)duplicationPathogenicrs397509108GRCh37Chr 17, 41243735: 41243735
1694BRCA1NM_007294.3(BRCA1): c.3814_3815insT (p.Asn1272Ilefs)insertionPathogenicrs397509109GRCh37Chr 17, 41243733: 41243734
1695BRCA1NM_007294.3(BRCA1): c.3817C> T (p.Gln1273Ter)SNVPathogenicrs80357208GRCh37Chr 17, 41243731: 41243731
1696BRCA1NM_007294.3(BRCA1): c.3820delG (p.Val1274Terfs)deletionPathogenicrs397509110GRCh37Chr 17, 41243728: 41243728
1697BRCA1NM_007294.3(BRCA1): c.3820dupG (p.Val1274Glyfs)duplicationPathogenicrs80357616GRCh37Chr 17, 41243728: 41243728
1698BRCA1NM_007294.3(BRCA1): c.3839_3843delCTCAGinsAGGC (p.Ser1280Terfs)indelPathogenicrs273900717GRCh37Chr 17, 41243705: 41243709
1699BRCA1NM_007294.3(BRCA1): c.3841C> T (p.Gln1281Ter)SNVPathogenicrs80356866GRCh37Chr 17, 41243707: 41243707
1700BRCA1NM_007294.3(BRCA1): c.3841_3842delCA (p.Gln1281Glyfs)deletionPathogenicrs80357584GRCh37Chr 17, 41243706: 41243707
1701BRCA1NM_007294.3(BRCA1): c.3844delG (p.Glu1282Asnfs)deletionPathogenicrs397509113GRCh37Chr 17, 41243704: 41243704
1702BRCA1NM_007294.3(BRCA1): c.3856delA (p.Ser1286Valfs)deletionPathogenicrs80357855GRCh37Chr 17, 41243692: 41243692
1703BRCA1NM_007294.3(BRCA1): c.3862delG (p.Glu1288Lysfs)deletionPathogenicrs273900718GRCh37Chr 17, 41243686: 41243686
1704BRCA1NM_007294.3(BRCA1): c.3869_3870delAA (p.Lys1290Metfs)deletionPathogenicrs80357918GRCh37Chr 17, 41243678: 41243679
1705BRCA1NM_007294.3(BRCA1): c.3893C> A (p.Ser1298Ter)SNVPathogenicrs80357440GRCh37Chr 17, 41243655: 41243655
1706BRCA1NM_007294.3(BRCA1): c.3895C> T (p.Gln1299Ter)SNVPathogenicrs80357038GRCh37Chr 17, 41243653: 41243653
1707BRCA1NM_007294.3(BRCA1): c.3901_3902delAG (p.Ser1301Terfs)deletionPathogenicrs80357646GRCh37Chr 17, 41243646: 41243647
1708BRCA1NM_007294.3(BRCA1): c.3904G> T (p.Glu1302Ter)SNVPathogenicrs80357461GRCh37Chr 17, 41243644: 41243644
1709BRCA1NM_007294.3(BRCA1): c.390C> A (p.Tyr130Ter)SNVPathogenicrs80356888GRCh37Chr 17, 41256190: 41256190
1710BRCA1NM_007294.3(BRCA1): c.3910delG (p.Glu1304Lysfs)deletionPathogenicrs397509117GRCh37Chr 17, 41243638: 41243638
1711BRCA1NM_007294.3(BRCA1): c.3914delA (p.Asp1305Alafs)deletionPathogenicrs397509118GRCh37Chr 17, 41243634: 41243634
1712BRCA1NM_007294.3(BRCA1): c.3916_3917delTT (p.Leu1306Aspfs)deletionPathogenicrs80357678GRCh37Chr 17, 41243631: 41243632
1713BRCA1NM_007294.3(BRCA1): c.391A> T (p.Arg131Ter)SNVPathogenicrs80357207GRCh37Chr 17, 41256189: 41256189
1714BRCA1NM_007294.3(BRCA1): c.3926delA (p.Asn1309Ilefs)deletionPathogenicrs397509119GRCh37Chr 17, 41243622: 41243622
1715BRCA1NM_007294.3(BRCA1): c.3931_3934delAACA (p.Asn1311Profs)deletionPathogenicrs80357864GRCh37Chr 17, 41243614: 41243617
1716BRCA1NM_007294.3(BRCA1): c.3932delA (p.Asn1311Thrfs)deletionPathogenicrs80357504GRCh37Chr 17, 41243616: 41243616
1717BRCA1NM_007294.3(BRCA1): c.3964A> T (p.Lys1322Ter)SNVPathogenicrs80357343GRCh37Chr 17, 41243584: 41243584
1718BRCA1NM_007294.3(BRCA1): c.3966delA (p.Lys1322Asnfs)deletionPathogenicrs80357979GRCh37Chr 17, 41243582: 41243582
1719BRCA1NM_007294.3(BRCA1): c.3967C> T (p.Gln1323Ter)SNVPathogenicrs80357262GRCh37Chr 17, 41243581: 41243581
1720BRCA1NM_007294.3(BRCA1): c.3967delC (p.Gln1323Lysfs)deletionPathogenicrs397509122GRCh37Chr 17, 41243581: 41243581
1721BRCA1NM_007294.3(BRCA1): c.3972delG (p.Met1324Ilefs)deletionPathogenicrs80357987GRCh37Chr 17, 41243576: 41243576
1722BRCA1NM_007294.3(BRCA1): c.3973delA (p.Arg1325Glyfs)deletionPathogenicrs80357904GRCh37Chr 17, 41243575: 41243575
1723BRCA1NM_007294.3(BRCA1): c.3981delG (p.Gln1327Hisfs)deletionPathogenicrs397509123GRCh37Chr 17, 41243567: 41243567
1724BRCA1NM_007294.3(BRCA1): c.399_400delTG (p.Ala134Glnfs)deletionPathogenicrs80357568GRCh37Chr 17, 41256180: 41256181
1725BRCA1NM_007294.3(BRCA1): c.3G> T (p.Met1Ile)SNVPathogenicrs80357475GRCh37Chr 17, 41276111: 41276111
1726BRCA1NM_007294.3(BRCA1): c.4001delG (p.Gly1334Valfs)deletionPathogenicrs397509127GRCh37Chr 17, 41243547: 41243547
1727BRCA1NM_007294.3(BRCA1): c.4002_4005delTCTG (p.Leu1335Valfs)deletionPathogenicrs397509128GRCh37Chr 17, 41243543: 41243546
1728BRCA1NM_007294.3(BRCA1): c.4041_4042delAG (p.Gly1348Asnfs)deletionPathogenicrs80357727GRCh37Chr 17, 41243506: 41243507
1729BRCA1NM_007294.3(BRCA1): c.4043delG (p.Gly1348Glufs)deletionPathogenicrs397509130GRCh37Chr 17, 41243505: 41243505
1730BRCA1NM_007294.3(BRCA1): c.4049dupG (p.Glu1352Glyfs)duplicationPathogenicrs397509131GRCh37Chr 17, 41243499: 41243499
1731BRCA1NM_007294.3(BRCA1): c.4052T> A (p.Leu1351Ter)SNVPathogenicrs397509132GRCh37Chr 17, 41243496: 41243496
1732BRCA1NM_007294.3(BRCA1): c.4052dupT (p.Leu1351Phefs)duplicationPathogenicrs80357779GRCh37Chr 17, 41243496: 41243496
1733BRCA1NM_007294.3(BRCA1): c.4057G> T (p.Glu1353Ter)SNVPathogenicrs80357178GRCh37Chr 17, 41243491: 41243491
1734BRCA1NM_007294.3(BRCA1): c.4057_4061delGAAAA (p.Glu1353Terfs)deletionPathogenicrs397509133GRCh37Chr 17, 41243487: 41243491
1735BRCA1NM_007294.3(BRCA1): c.4062_4068delTAATCAA (p.Asn1354Lysfs)deletionPathogenicrs397509134GRCh37Chr 17, 41243480: 41243486
1736BRCA1NM_007294.3(BRCA1): c.4066_4069delCAAG (p.Gln1356Lysfs)deletionPathogenicrs397509135GRCh37Chr 17, 41243479: 41243482
1737BRCA1NM_007294.3(BRCA1): c.406dupA (p.Arg136Lysfs)duplicationPathogenicrs80357709GRCh37Chr 17, 41256174: 41256174
1738BRCA1NM_007294.3(BRCA1): c.4075C> T (p.Gln1359Ter)SNVPathogenicrs80357456GRCh37Chr 17, 41243473: 41243473
1739BRCA1NM_007294.3(BRCA1): c.4085delA (p.Asp1362Valfs)deletionPathogenicrs80357737GRCh37Chr 17, 41243463: 41243463
1740BRCA1NM_007294.3(BRCA1): c.4092_4093delCT (p.Leu1365Argfs)deletionPathogenicrs397509137GRCh37Chr 17, 41243455: 41243456
1741BRCA1NM_007294.3(BRCA1): c.4097-2A> GSNVPathogenicrs80358019GRCh37Chr 17, 41243051: 41243051
1742BRCA1NM_007294.3(BRCA1): c.4107_4110dupATCT (p.Gly1371Ilefs)duplicationPathogenicrs397509139GRCh37Chr 17, 41243036: 41243039
1743BRCA1NM_007294.3(BRCA1): c.4122_4123delTG (p.Ser1374Argfs)deletionPathogenicrs80357691GRCh37Chr 17, 41243023: 41243024
1744BRCA1NM_007294.3(BRCA1): c.4123G> T (p.Glu1375Ter)SNVPathogenicrs80357397GRCh37Chr 17, 41243023: 41243023
1745BRCA1NM_007294.3(BRCA1): c.412_418delCTACAGA (p.Leu138Valfs)deletionPathogenicrs80357816GRCh37Chr 17, 41256162: 41256168
1746BRCA1NM_007294.3(BRCA1): c.4136_4137delCT (p.Ser1379Terfs)deletionPathogenicrs397509141GRCh37Chr 17, 41243009: 41243010
1747BRCA1NM_007294.3(BRCA1): c.4158_4162delCTCTC (p.Ser1387Glufs)deletionPathogenicrs397509142GRCh37Chr 17, 41242984: 41242988
1748BRCA1NM_007294.3(BRCA1): c.415C> T (p.Gln139Ter)SNVPathogenicrs80357372GRCh37Chr 17, 41256165: 41256165
1749BRCA1NM_007294.3(BRCA1): c.4161_4162delTC (p.Gln1388Glufs)deletionPathogenicrs80357565GRCh37Chr 17, 41242984: 41242985
1750BRCA1NM_007294.3(BRCA1): c.4163_4166delAGAG (p.Gln1388Leufs)deletionPathogenicrs80357532GRCh37Chr 17, 41242980: 41242983
1751BRCA1NM_007294.3(BRCA1): c.4165_4166delAG (p.Ser1389Terfs)deletionPathogenicrs80357572GRCh37Chr 17, 41242980: 41242981
1752BRCA1NM_007294.3(BRCA1): c.4165_4166dupAG (p.Ser1389Argfs)duplicationPathogenicrs397509143GRCh37Chr 17, 41242980: 41242981
1753BRCA1NM_007294.3(BRCA1): c.4167_4168delTG (p.Ser1389Argfs)deletionPathogenicrs397509144GRCh37Chr 17, 41242978: 41242979
1754BRCA1NM_007294.3(BRCA1): c.4167_4170delTGAC (p.Ser1389Argfs)deletionPathogenicrs80357538GRCh37Chr 17, 41242976: 41242979
1755BRCA1NM_007294.3(BRCA1): c.4182_4183dupTC (p.Gln1395Leufs)duplicationPathogenicrs80357742GRCh37Chr 17, 41242963: 41242964
1756BRCA1NM_007294.3(BRCA1): c.4183C> T (p.Gln1395Ter)SNVPathogenicrs80357260GRCh37Chr 17, 41242963: 41242963
1757BRCA1NM_007294.3(BRCA1): c.4185+1G> TSNVPathogenicrs80358076GRCh37Chr 17, 41242960: 41242960
1758BRCA1NM_007294.3(BRCA1): c.4185G> A (p.Gln1395=)SNVPathogenicrs80356857GRCh37Chr 17, 41242961: 41242961
1759BRCA1NM_007294.3(BRCA1): c.4185_4185+3delGGTAdeletionPathogenicrs397509149GRCh37Chr 17, 41242958: 41242961
1760BRCA1NM_007294.3(BRCA1): c.4186C> T (p.Gln1396Ter)SNVPathogenicrs80357011GRCh37Chr 17, 41234592: 41234592
1761BRCA1NM_007294.3(BRCA1): c.4195_4196delAC (p.Thr1399Hisfs)deletionPathogenicrs80357649GRCh37Chr 17, 41234582: 41234583
1762BRCA1NM_007294.3(BRCA1): c.4201C> T (p.Gln1401Ter)SNVPathogenicrs397509151GRCh37Chr 17, 41234577: 41234577
1763BRCA1NM_007294.3(BRCA1): c.4210delC (p.Leu1404Terfs)deletionPathogenicrs80357765GRCh37Chr 17, 41234568: 41234568
1764BRCA1NM_007294.3(BRCA1): c.4222C> T (p.Gln1408Ter)SNVPathogenicrs80356989GRCh37Chr 17, 41234556: 41234556
1765BRCA1NM_007294.3(BRCA1): c.4228G> T (p.Glu1410Ter)SNVPathogenicrs397509152GRCh37Chr 17, 41234550: 41234550
1766BRCA1NM_007294.3(BRCA1): c.4240dupC (p.Leu1414Profs)duplicationPathogenicrs397509154GRCh37Chr 17, 41234538: 41234538
1767BRCA1NM_007294.3(BRCA1): c.4258C> T (p.Gln1420Ter)SNVPathogenicrs80357305GRCh37Chr 17, 41234520: 41234520
1768BRCA1NM_007294.3(BRCA1): c.4266dupG (p.Ser1423Glufs)duplicationPathogenicrs397509158GRCh37Chr 17, 41234512: 41234512
1769BRCA1NM_007294.3(BRCA1): c.4300dupA (p.Ser1434Lysfs)duplicationPathogenicrs80357790GRCh37Chr 17, 41234478: 41234478
1770BRCA1NM_007294.3(BRCA1): c.431delA (p.Asn144Ilefs)deletionPathogenicrs397509162GRCh37Chr 17, 41256149: 41256149
1771BRCA1NM_007294.3(BRCA1): c.4321dupG (p.Asp1441Glyfs)duplicationPathogenicrs80357748GRCh37Chr 17, 41234457: 41234457
1772BRCA1NM_007294.3(BRCA1): c.4331_4332delAT (p.Asn1444Thrfs)deletionPathogenicrs397509163GRCh37Chr 17, 41234446: 41234447
1773BRCA1NM_007294.3(BRCA1): c.4331_4338delATCCAGAA (p.Asn1444Thrfs)deletionPathogenicrs80357825GRCh37Chr 17, 41234440: 41234447
1774BRCA1NM_007294.3(BRCA1): c.4335_4338dupAGAA (p.Gln1447Argfs)duplicationPathogenicrs397509164GRCh37Chr 17, 41234440: 41234443
1775BRCA1NM_007294.3(BRCA1): c.4339C> T (p.Gln1447Ter)SNVPathogenicrs80357067GRCh37Chr 17, 41234439: 41234439
1776BRCA1NM_007294.3(BRCA1): c.4357+1G> CSNVLikely pathogenic, Pathogenicrs80358027GRCh37Chr 17, 41234420: 41234420
1777BRCA1NM_007294.3(BRCA1): c.4357+1G> TSNVPathogenicrs80358027GRCh37Chr 17, 41234420: 41234420
1778BRCA1NM_007294.3(BRCA1): c.4357+1delGdeletionPathogenicrs397509165GRCh37Chr 17, 41234420: 41234420
1779BRCA1NM_007294.3(BRCA1): c.4357+2T> CSNVPathogenicrs80358152GRCh37Chr 17, 41234419: 41234419
1780BRCA1NM_007294.3(BRCA1): c.4370C> G (p.Ser1457Ter)SNVPathogenicrs80357130GRCh37Chr 17, 41228619: 41228619
1781BRCA1NM_007294.3(BRCA1): c.4372C> T (p.Gln1458Ter)SNVPathogenicrs80356932GRCh37Chr 17, 41228617: 41228617
1782BRCA1NM_007294.3(BRCA1): c.4373_4389del17 (p.Gln1458Profs)deletionPathogenicrs80359885GRCh37Chr 17, 41228600: 41228616
1783BRCA1NM_007294.3(BRCA1): c.4389C> A (p.Tyr1463Ter)SNVPathogenicrs80356997GRCh37Chr 17, 41228600: 41228600
1784BRCA1NM_007294.3(BRCA1): c.4391_4403delCTATAAGCCAGAAinsTT (p.Pro1464Leufs)indelPathogenicrs273900731GRCh37Chr 17, 41228586: 41228598
1785BRCA1NM_007294.3(BRCA1): c.4399C> T (p.Gln1467Ter)SNVPathogenicrs397509171GRCh37Chr 17, 41228590: 41228590
1786BRCA1NM_007294.3(BRCA1): c.441+1G> ASNVPathogenicrs397509172GRCh37Chr 17, 41256138: 41256138
1787BRCA1NM_007294.3(BRCA1): c.4416_4417delTTinsG (p.Ser1473Leufs)indelPathogenicrs397509174GRCh37Chr 17, 41228572: 41228573
1788BRCA1NM_007294.3(BRCA1): c.4435delG (p.Val1479Cysfs)deletionPathogenicrs397509176GRCh37Chr 17, 41228554: 41228554
1789BRCA1NM_007294.3(BRCA1): c.4456delA (p.Ser1486Valfs)deletionPathogenicrs397509179GRCh37Chr 17, 41228533: 41228533
1790BRCA1NM_007294.3(BRCA1): c.4457delG (p.Ser1486Ilefs)deletionPathogenicrs397509180GRCh37Chr 17, 41228532: 41228532
1791BRCA1NM_007294.3(BRCA1): c.4480G> T (p.Glu1494Ter)SNVPathogenicrs80357148GRCh37Chr 17, 41228509: 41228509
1792BRCA1NM_007294.3(BRCA1): c.4484+1delGdeletionPathogenicrs397509181GRCh37Chr 17, 41228504: 41228504
1793BRCA1NM_007294.3(BRCA1): c.4485-1G> ASNVPathogenicrs80358189GRCh37Chr 17, 41226539: 41226539
1794BRCA1NM_007294.3(BRCA1): c.4485-2A> GSNVLikely pathogenic, Pathogenicrs80358054GRCh37Chr 17, 41226540: 41226540
1795BRCA1NM_007294.3(BRCA1): c.4487C> A (p.Ser1496Ter)SNVPathogenicrs80356953GRCh37Chr 17, 41226536: 41226536
1796BRCA1NM_007294.3(BRCA1): c.4487C> G (p.Ser1496Ter)SNVPathogenicrs80356953GRCh37Chr 17, 41226536: 41226536
1797BRCA1NM_007294.3(BRCA1): c.4508C> A (p.Ser1503Ter)SNVPathogenicrs80357437GRCh37Chr 17, 41226515: 41226515
1798BRCA1NM_007294.3(BRCA1): c.4516delG (p.Asp1506Ilefs)deletionPathogenicrs273900736GRCh37Chr 17, 41226507: 41226507
1799BRCA1NM_007294.3(BRCA1): c.4524G> A (p.Trp1508Ter)SNVPathogenicrs80356885GRCh37Chr 17, 41226499: 41226499
1800BRCA1NM_007294.3(BRCA1): c.4528delA (p.Met1510Cysfs)deletionPathogenicrs397509182GRCh37Chr 17, 41226495: 41226495
1801BRCA1NM_007294.3(BRCA1): c.4533_4534delCA (p.His1511Glnfs)deletionPathogenicrs80357534GRCh37Chr 17, 41226489: 41226490
1802BRCA1NM_007294.3(BRCA1): c.4552C> T (p.Gln1518Ter)SNVPathogenicrs80356881GRCh37Chr 17, 41226471: 41226471
1803BRCA1NM_007294.3(BRCA1): c.4574_4575delAA (p.Gln1525Argfs)deletionPathogenicrs80357813GRCh37Chr 17, 41226448: 41226449
1804BRCA1NM_007294.3(BRCA1): c.4575_4585delAGAGGAGCTCA (p.Gln1525Hisfs)deletionPathogenicrs397509184GRCh37Chr 17, 41226438: 41226448
1805BRCA1NM_007294.3(BRCA1): c.4595_4596insCT (p.Asp1533Leufs)insertionPathogenicrs80357699GRCh37Chr 17, 41226427: 41226428
1806BRCA1NM_007294.3(BRCA1): c.4603G> T (p.Glu1535Ter)SNVPathogenicrs80357366GRCh37Chr 17, 41226420: 41226420
1807BRCA1NM_007294.3(BRCA1): c.4609C> T (p.Gln1537Ter)SNVPathogenicrs80357229GRCh37Chr 17, 41226414: 41226414
1808BRCA1NM_007294.3(BRCA1): c.4611_4612insG (p.Gln1538Alafs)insertionPathogenicrs80357915GRCh37Chr 17, 41226411: 41226412
1809BRCA1NM_007294.3(BRCA1): c.4612C> T (p.Gln1538Ter)SNVPathogenicrs80356992GRCh37Chr 17, 41226411: 41226411
1810BRCA1NM_007294.3(BRCA1): c.4618G> T (p.Glu1540Ter)SNVPathogenicrs80357277GRCh37Chr 17, 41226405: 41226405
1811BRCA1NM_007294.3(BRCA1): c.4621G> T (p.Glu1541Ter)SNVPathogenicrs80357248GRCh37Chr 17, 41226402: 41226402
1812BRCA1NM_007294.3(BRCA1): c.4625_4626delCT (p.Ser1542Trpfs)deletionPathogenicrs80357542GRCh37Chr 17, 41226397: 41226398
1813BRCA1NM_007294.3(BRCA1): c.4655_4658delACTT (p.Tyr1552Cysfs)deletionPathogenicrs80357561GRCh37Chr 17, 41226365: 41226368
1814BRCA1NM_007294.3(BRCA1): c.4656C> G (p.Tyr1552Ter)SNVPathogenicrs80357151GRCh37Chr 17, 41226367: 41226367
1815BRCA1NM_007294.3(BRCA1): c.4675+1G> ASNVPathogenicrs80358044GRCh37Chr 17, 41226347: 41226347
1816BRCA1NM_007294.3(BRCA1): c.4678G> T (p.Gly1560Ter)SNVPathogenicrs80357349GRCh37Chr 17, 41223253: 41223253
1817BRCA1NM_007294.3(BRCA1): c.4681delA (p.Thr1561Profs)deletionPathogenicrs397509187GRCh37Chr 17, 41223250: 41223250
1818BRCA1NM_007294.3(BRCA1): c.4684_4685delCC (p.Pro1562Leufs)deletionPathogenicrs397509188GRCh37Chr 17, 41223246: 41223247
1819BRCA1NM_007294.3(BRCA1): c.4695dupA (p.Ser1566Ilefs)duplicationPathogenicrs397509189GRCh37Chr 17, 41223236: 41223236
1820BRCA1NM_007294.3(BRCA1): c.4712_4716delTCTCT (p.Phe1571Terfs)deletionPathogenicrs80357718GRCh37Chr 17, 41223215: 41223219
1821BRCA1NM_007294.3(BRCA1): c.4724delC (p.Pro1575Leufs)deletionPathogenicrs397509191GRCh37Chr 17, 41223207: 41223207
1822BRCA1NM_007294.3(BRCA1): c.4741G> T (p.Glu1581Ter)SNVPathogenicrs397509193GRCh37Chr 17, 41223190: 41223190
1823BRCA1NM_007294.3(BRCA1): c.4745delA (p.Asp1582Alafs)deletionPathogenicrs80357907GRCh37Chr 17, 41223186: 41223186
1824BRCA1NM_007294.3(BRCA1): c.4754_4755delCA (p.Pro1585Argfs)deletionPathogenicrs80357837GRCh37Chr 17, 41223176: 41223177
1825BRCA1NM_007294.3(BRCA1): c.4760C> G (p.Ser1587Ter)SNVPathogenicrs397509195GRCh37Chr 17, 41223171: 41223171
1826BRCA1NM_007294.3(BRCA1): c.4801A> T (p.Lys1601Ter)SNVPathogenicrs80357303GRCh37Chr 17, 41223130: 41223130
1827BRCA1NM_007294.3(BRCA1): c.4810C> T (p.Gln1604Ter)SNVPathogenicrs80357352GRCh37Chr 17, 41223121: 41223121
1828BRCA1NM_007294.3(BRCA1): c.4837delA (p.Ser1613Valfs)deletionPathogenicrs397509199GRCh37Chr 17, 41223094: 41223094
1829BRCA1NM_007294.3(BRCA1): c.4838_4839insC (p.Pro1614Serfs)insertionPathogenicrs397509200GRCh37Chr 17, 41223092: 41223093
1830BRCA1NM_007294.3(BRCA1): c.485_486delTG (p.Val162Glufs)deletionPathogenicrs80357708GRCh37Chr 17, 41251853: 41251854
1831BRCA1NM_007294.3(BRCA1): c.4873_4885delTATAATGCAATGG (p.Tyr1625Lysfs)deletionPathogenicrs397509201GRCh37Chr 17, 41223046: 41223058
1832BRCA1NM_007294.3(BRCA1): c.4903G> T (p.Glu1635Ter)SNVPathogenicrs200432771GRCh37Chr 17, 41223028: 41223028
1833BRCA1NM_007294.3(BRCA1): c.4905_4906delGA (p.Lys1636Alafs)deletionPathogenicrs397509203GRCh37Chr 17, 41223025: 41223026
1834BRCA1NM_007294.3(BRCA1): c.4930G> T (p.Glu1644Ter)SNVPathogenicrs397509205GRCh37Chr 17, 41223001: 41223001
1835BRCA1NM_007294.3(BRCA1): c.4936delG (p.Val1646Serfs)deletionPathogenicrs80357653GRCh37Chr 17, 41222995: 41222995
1836BRCA1NM_007294.3(BRCA1): c.493_494delCT (p.Leu165Glufs)deletionPathogenicrs397509206GRCh37Chr 17, 41251845: 41251846
1837BRCA1NM_007294.3(BRCA1): c.493delC (p.Leu165Terfs)deletionPathogenicrs80357551GRCh37Chr 17, 41251846: 41251846
1838BRCA1NM_007294.3(BRCA1): c.4941delC (p.Asn1647Lysfs)deletionPathogenicrs80357905GRCh37Chr 17, 41222990: 41222990
1839BRCA1NM_007294.3(BRCA1): c.4945_4947delAGAinsTTTT (p.Arg1649Phefs)indelPathogenicrs397509207GRCh37Chr 17, 41222984: 41222986
1840BRCA1NM_007294.3(BRCA1): c.4945delA (p.Arg1649Glufs)deletionPathogenicrs80357761GRCh37Chr 17, 41222986: 41222986
1841BRCA1NM_007294.3(BRCA1): c.494dupT (p.Arg166Glufs)duplicationPathogenicrs80357762GRCh37Chr 17, 41251845: 41251845
1842BRCA1NM_007294.3(BRCA1): c.4964_4979del16 (p.Ser1655Terfs)deletionPathogenicrs397509209GRCh37Chr 17, 41222952: 41222967
1843BRCA1NM_007294.3(BRCA1): c.4981G> T (p.Glu1661Ter)SNVPathogenicrs80357401GRCh37Chr 17, 41222950: 41222950
1844BRCA1NM_007294.3(BRCA1): c.4986+2T> CSNVPathogenicrs397509210GRCh37Chr 17, 41222943: 41222943
1845BRCA1NM_007294.3(BRCA1): c.4986+3G> CSNVLikely pathogenic, Pathogenicrs80358023GRCh37Chr 17, 41222942: 41222942
1846BRCA1NM_007294.3(BRCA1): c.4986+4A> TSNVLikely pathogenic, Pathogenicrs80358087GRCh37Chr 17, 41222941: 41222941
1847BRCA1NM_007294.3(BRCA1): c.4986+6T> GSNVLikely pathogenic, Pathogenicrs80358086GRCh37Chr 17, 41222939: 41222939
1848BRCA1NM_007294.3(BRCA1): c.4987-2A> GSNVPathogenicrs397509212GRCh37Chr 17, 41219714: 41219714
1849BRCA1NM_007294.3(BRCA1): c.4987-5T> ASNVPathogenicrs397509214GRCh37Chr 17, 41219717: 41219717
1850BRCA1NM_007294.3(BRCA1): c.4999A> T (p.Lys1667Ter)SNVPathogenicrs80357204GRCh37Chr 17, 41219700: 41219700
1851BRCA1NM_007294.3(BRCA1): c.5005delG (p.Ala1669Profs)deletionPathogenicrs80357938GRCh37Chr 17, 41219694: 41219694
1852BRCA1NM_007294.3(BRCA1): c.5026_5036delTTAACTAATCT (p.Leu1676Asnfs)deletionPathogenicrs80357894GRCh37Chr 17, 41219663: 41219673
1853BRCA1NM_007294.3(BRCA1): c.5027dupT (p.Leu1676Phefs)duplicationPathogenicrs397509217GRCh37Chr 17, 41219672: 41219672
1854BRCA1NM_007294.3(BRCA1): c.5035delC (p.Leu1679Terfs)deletionPathogenicrs80357896GRCh37Chr 17, 41219664: 41219664
1855BRCA1NM_007294.3(BRCA1): c.5040delT (p.Thr1681Leufs)deletionPathogenicrs80357673GRCh37Chr 17, 41219659: 41219659
1856BRCA1NM_007294.3(BRCA1): c.5047G> T (p.Glu1683Ter)SNVPathogenicrs80356879GRCh37Chr 17, 41219652: 41219652
1857BRCA1NM_007294.3(BRCA1): c.5053A> G (p.Thr1685Ala)SNVPathogenicrs80356890GRCh37Chr 17, 41219646: 41219646
1858BRCA1NM_007294.3(BRCA1): c.5054C> T (p.Thr1685Ile)SNVPathogenicrs80357043GRCh37Chr 17, 41219645: 41219645
1859BRCA1NM_007294.3(BRCA1): c.505C> T (p.Gln169Ter)SNVPathogenicrs80357133GRCh37Chr 17, 41251834: 41251834
1860BRCA1NM_007294.3(BRCA1): c.5071dupA (p.Thr1691Asnfs)duplicationPathogenicrs80357672GRCh37Chr 17, 41219628: 41219628
1861BRCA1NM_007294.3(BRCA1): c.5074G> T (p.Asp1692Tyr)SNVPathogenicrs80187739GRCh37Chr 17, 41219625: 41219625
1862BRCA1NM_007294.3(BRCA1): c.5075-1G> ASNVPathogenicrs1800747GRCh37Chr 17, 41215969: 41215969
1863BRCA1NM_007294.3(BRCA1): c.5075-2A> CSNVPathogenicrs80358066GRCh37Chr 17, 41215970: 41215970
1864BRCA1NM_007294.3(BRCA1): c.5075-2A> TSNVPathogenicrs80358066GRCh37Chr 17, 41215970: 41215970
1865BRCA1NM_007294.3(BRCA1): c.5075-8T> GSNVPathogenicrs397509221GRCh37Chr 17, 41215976: 41215976
1866BRCA1NM_007294.3(BRCA1): c.5078_5080delCTG (p.Ala1693del)deletionLikely pathogenic, Pathogenicrs80358345GRCh37Chr 17, 41215963: 41215965
1867BRCA1NM_007294.3(BRCA1): c.5080G> T (p.Glu1694Ter)SNVPathogenicrs80356896GRCh37Chr 17, 41215963: 41215963
1868BRCA1NM_007294.3(BRCA1): c.5084_5085delTT (p.Phe1695Cysfs)deletionPathogenicrs80357760GRCh37Chr 17, 41215958: 41215959
1869BRCA1NM_007294.3(BRCA1): c.5091_5092delTG (p.Cys1697Terfs)deletionPathogenicrs80357710GRCh37Chr 17, 41215951: 41215952
1870BRCA1NM_007294.3(BRCA1): c.5095C> T (p.Arg1699Trp)SNVPathogenicrs55770810GRCh37Chr 17, 41215948: 41215948
1871BRCA1NM_007294.3(BRCA1): c.5102_5103delTG (p.Leu1701Glnfs)deletionPathogenicrs80357608GRCh37Chr 17, 41215940: 41215941
1872BRCA1NM_007294.3(BRCA1): c.5106delA (p.Lys1702Asnfs)deletionPathogenicrs80357553GRCh37Chr 17, 41215937: 41215937
1873BRCA1NM_007294.3(BRCA1): c.5109T> G (p.Tyr1703Ter)SNVPathogenicrs80356974GRCh37Chr 17, 41215934: 41215934
1874BRCA1NM_007294.3(BRCA1): c.5112delT (p.Leu1705Terfs)deletionPathogenicrs397509228GRCh37Chr 17, 41215931: 41215931
1875BRCA1NM_007294.3(BRCA1): c.5123C> A (p.Ala1708Glu)SNVPathogenicrs28897696GRCh37Chr 17, 41215920: 41215920
1876BRCA1NM_007294.3(BRCA1): c.5126delG (p.Gly1709Glufs)deletionPathogenicrs80357874GRCh37Chr 17, 41215917: 41215917
1877BRCA1NM_007294.3(BRCA1): c.5128G> T (p.Gly1710Ter)SNVPathogenicrs397509229GRCh37Chr 17, 41215915: 41215915
1878BRCA1NM_007294.3(BRCA1): c.5136G> A (p.Trp1712Ter)SNVPathogenicrs80357418GRCh37Chr 17, 41215907: 41215907
1879BRCA1NM_007294.3(BRCA1): c.5137delG (p.Val1713Terfs)deletionPathogenicrs80357997GRCh37Chr 17, 41215906: 41215906
1880BRCA1NM_007294.3(BRCA1): c.5143A> C (p.Ser1715Arg)SNVPathogenicrs80357222GRCh37Chr 17, 41215900: 41215900
1881BRCA1NM_007294.3(BRCA1): c.514C> T (p.Gln172Ter)SNVPathogenicrs80356947GRCh37Chr 17, 41251825: 41251825
1882BRCA1NM_007294.3(BRCA1): c.514delC (p.Gln172Asnfs)deletionPathogenicrs80357872GRCh37Chr 17, 41251825: 41251825
1883BRCA1NM_007294.3(BRCA1): c.5150delT (p.Phe1717Serfs)deletionPathogenicrs80357720GRCh37Chr 17, 41215893: 41215893
1884BRCA1NM_007294.3(BRCA1): c.5152+1G> TSNVPathogenicrs80358094GRCh37Chr 17, 41215890: 41215890
1885BRCA1NM_007294.3(BRCA1): c.5152+2dupTduplicationLikely pathogenic, Pathogenicrs397509231GRCh37Chr 17, 41215889: 41215889
1886BRCA1NM_007294.3(BRCA1): c.5152+3A> CSNVPathogenicrs80358124GRCh37Chr 17, 41215888: 41215888
1887BRCA1NM_007294.3(BRCA1): c.5152+5G> ASNVLikely pathogenic, Pathogenicrs80358165GRCh37Chr 17, 41215886: 41215886
1888BRCA1NM_007294.3(BRCA1): c.5153-1G> ASNVPathogenicrs80358137GRCh37Chr 17, 41215391: 41215391
1889BRCA1NM_007294.3(BRCA1): c.5153-2delAdeletionPathogenicrs273901746GRCh37Chr 17, 41215392: 41215392
1890BRCA1NM_007294.3(BRCA1): c.5153G> A (p.Trp1718Ter)SNVPathogenicrs41293461GRCh37Chr 17, 41215390: 41215390
1891BRCA1NM_007294.3(BRCA1): c.5154G> A (p.Trp1718Ter)SNVPathogenicrs80357239GRCh37Chr 17, 41215389: 41215389
1892BRCA1NM_007294.3(BRCA1): c.5155delG (p.Val1719Terfs)deletionPathogenicrs80357743GRCh37Chr 17, 41215388: 41215388
1893BRCA1NM_007294.3(BRCA1): c.5156_5157delTG (p.Val1719Aspfs)deletionPathogenicrs80357895GRCh37Chr 17, 41215386: 41215387
1894BRCA1NM_007294.3(BRCA1): c.5162delA (p.Gln1721Argfs)deletionPathogenicrs397509233GRCh37Chr 17, 41215381: 41215381
1895BRCA1NM_007294.3(BRCA1): c.5165C> T (p.Ser1722Phe)SNVLikely pathogenic, Pathogenicrs80357104GRCh37Chr 17, 41215378: 41215378
1896BRCA1NM_007294.3(BRCA1): c.5173G> T (p.Glu1725Ter)SNVPathogenicrs80357291GRCh37Chr 17, 41215370: 41215370
1897BRCA1NM_007294.3(BRCA1): c.5177_5178delGA (p.Arg1726Lysfs)deletionPathogenicrs80357730GRCh37Chr 17, 41215365: 41215366
1898BRCA1NM_007294.3(BRCA1): c.5193+1G> CSNVPathogenicrs80358004GRCh37Chr 17, 41215349: 41215349
1899BRCA1NM_007294.3(BRCA1): c.5193+1delGdeletionPathogenicrs397509236GRCh37Chr 17, 41215349: 41215349
1900BRCA1NM_007294.3(BRCA1): c.5193+2delTdeletionPathogenicrs273901751GRCh37Chr 17, 41215348: 41215348
1901BRCA1NM_007294.3(BRCA1): c.5194-12G> ASNVPathogenicrs80358079GRCh37Chr 17, 41209164: 41209164
1902BRCA1NM_007294.3(BRCA1): c.5209A> T (p.Arg1737Ter)SNVPathogenicrs80357496GRCh37Chr 17, 41209137: 41209137
1903BRCA1NM_007294.3(BRCA1): c.5209_5248del40insTC (p.Arg1737Serfs)indelPathogenicrs273901753GRCh37Chr 17, 41209098: 41209137
1904BRCA1NM_007294.3(BRCA1): c.520delC (p.Gln174Lysfs)deletionPathogenicrs80357639GRCh37Chr 17, 41251819: 41251819
1905BRCA1NM_007294.3(BRCA1): c.5212G> A (p.Gly1738Arg)SNVPathogenicrs80356937GRCh37Chr 17, 41209134: 41209134
1906BRCA1NM_007294.3(BRCA1): c.5213G> A (p.Gly1738Glu)SNVLikely pathogenic, Pathogenicrs80357450GRCh37Chr 17, 41209133: 41209133
1907BRCA1NM_007294.3(BRCA1): c.5229_5230delAA (p.Arg1744Lysfs)deletionPathogenicrs80357852GRCh37Chr 17, 41209116: 41209117
1908BRCA1NM_007294.3(BRCA1): c.5239C> T (p.Gln1747Ter)SNVPathogenicrs80357367GRCh37Chr 17, 41209107: 41209107
1909BRCA1NM_007294.3(BRCA1): c.5243delG (p.Gly1748Valfs)deletionPathogenicrs80357676GRCh37Chr 17, 41209103: 41209103
1910BRCA1NM_007294.3(BRCA1): c.5251C> T (p.Arg1751Ter)SNVPathogenicrs80357123GRCh37Chr 17, 41209095: 41209095
1911BRCA1NM_007294.3(BRCA1): c.5257dupA (p.Arg1753Lysfs)duplicationPathogenicrs397509245GRCh37Chr 17, 41209089: 41209089
1912BRCA1NM_007294.3(BRCA1): c.5260G> T (p.Glu1754Ter)SNVPathogenicrs80357432GRCh37Chr 17, 41209086: 41209086
1913BRCA1NM_007294.3(BRCA1): c.5266C> T (p.Gln1756Ter)SNVPathogenicrs397509247GRCh37Chr 17, 41209080: 41209080
1914BRCA1NM_007294.3(BRCA1): c.5278-1G> ASNVPathogenicrs80358099GRCh37Chr 17, 41203135: 41203135
1915BRCA1NM_007294.3(BRCA1): c.5278-1G> CSNVPathogenicrs80358099GRCh37Chr 17, 41203135: 41203135
1916BRCA1NM_007294.3(BRCA1): c.5278-1G> TSNVPathogenicrs80358099GRCh37Chr 17, 41203135: 41203135
1917BRCA1NM_007294.3(BRCA1): c.5284delA (p.Arg1762Glyfs)deletionPathogenicrs80357684GRCh37Chr 17, 41203128: 41203128
1918BRCA1NM_007294.3(BRCA1): c.5289delG (p.Leu1764Terfs)deletionPathogenicrs397509255GRCh37Chr 17, 41203123: 41203123
1919BRCA1NM_007294.3(BRCA1): c.5291T> C (p.Leu1764Pro)SNVPathogenicrs80357281GRCh37Chr 17, 41203121: 41203121
1920BRCA1NM_007294.3(BRCA1): c.529delT (p.Ser177Leufs)deletionPathogenicrs80357758GRCh37Chr 17, 41251810: 41251810
1921BRCA1NM_007294.3(BRCA1): c.5307T> A (p.Tyr1769Ter)SNVPathogenicrs397509258GRCh37Chr 17, 41203105: 41203105
1922BRCA1NM_007294.3(BRCA1): c.5310delG (p.Phe1772Serfs)deletionPathogenicrs80357581GRCh37Chr 17, 41203102: 41203102
1923BRCA1NM_007294.3(BRCA1): c.5315delT (p.Phe1772Serfs)deletionPathogenicrs397509261GRCh37Chr 17, 41203097: 41203097
1924BRCA1NM_007294.3(BRCA1): c.5319dupC (p.Asn1774Glnfs)duplicationPathogenicrs80357823GRCh37Chr 17, 41203093: 41203093
1925BRCA1NM_007294.3(BRCA1): c.5320_5321delAA (p.Asn1774Hisfs)deletionPathogenicrs80357818GRCh37Chr 17, 41203091: 41203092
1926BRCA1NM_007294.3(BRCA1): c.5328dupC (p.Thr1777Hisfs)duplicationPathogenicrs80357751GRCh37Chr 17, 41203084: 41203084
1927BRCA1NM_007294.3(BRCA1): c.5332+1G> ASNVPathogenicrs80358041GRCh37Ch