BROVCA1
MCID: BRS071
MIFTS: 35

Breast-Ovarian Cancer, Familial, 1 (BROVCA1) malady

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

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

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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

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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 5b, 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 BARD1 signaling events and ATM Pathway. 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

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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 47)
idRelated DiseaseScoreTop Affiliating Genes
1brca1 hereditary breast and ovarian cancer syndrome10.8
2peroxisome biogenesis disorder 5b10.0BRCA1, NBN
3aorto-ventricular tunnel10.0BRCA1, BRCA2
4burn scar10.0BRCA1, BRCA2
5kunjin encephalitis10.0BRCA1, BRCA2
6autoimmune disease of cardiovascular system10.0BRCA1, BRCA2
7heart malignant hemangiopericytoma10.0BRCA1, BRCA2
8bronchogenic cyst10.0BRCA1, BRCA2
9lung clear cell-sugar-tumor10.0BRCA1, BRCA2
10epidermolysis bullosa, nonspecific, autosomal recessive10.0BRCA1, NBN
11chronic endophthalmitis10.0BRCA1, BRCA2
12neuropathy, distal hereditary motor, type viib10.0BRCA1, BRCA2
13breast pericanalicular fibroadenoma10.0BRCA1, BRCA2
14eccrine sweat gland neoplasm10.0BRCA1, BRCA2
15villoglandular endometrial endometrioid adenocarcinoma10.0BRCA1, BRCA2
16paraphimosis10.0BRCA1, BRCA2
17frontal sinusitis9.9BRCA1, BRCA2
18bladder colloid adenocarcinoma9.9BRCA1, BRCA2
19bacteremia9.9BRCA1, BRCA2
20syndromic x-linked intellectual disability 149.9BRCA1, BRCA2
21polyembryoma of the ovary9.9BRCA1, BRCA2
22nemaline myopathy 8, autosomal recessive9.9BRCA1, BRCA2
23mediastinum synovial sarcoma9.9BRCA1, BRCA2
24fallopian tube carcinosarcoma9.9BRCA1, BRCA2
25cellular ependymoma9.9BRCA1, BRCA2
26immunodeficiency due to a late component of complement deficiency9.9BRCA1, BRCA2
27pneumonia9.9BRCA1, BRCA2
28mycobacterium kansasii9.9BRCA1, BRCA2
29estrogen-receptor positive breast cancer9.9BRCA1, BRCA2
30pyomyositis9.9BRCA1, BRCA2
31metagonimiasis9.9BRCA1, BRCA2
32dental caries9.9BRCA1, BRCA2
33nasal cavity disease9.9BRCA1, BRCA2
34childhood teratocarcinoma of the testis9.9BRCA1, BRCA2
35pituitary stalk meningioma9.9BRCA1, BRCA2
36progesterone-receptor positive breast cancer9.9BRCA1, BRCA2
37nasopharyngeal carcinoma9.9BRCA1, BRCA2
38trachea squamous cell carcinoma9.9BRCA1, BRCA2
39familial glucocorticoid deficiency9.8BRCA1, BRCA2
40bardet-biedl syndrome9.8BRCA1, BRCA2
41lethal congenital contracture syndrome 79.8BRCA1, BRCA2, NBN
42bronchiectasis oligospermia9.8BRCA1, BRCA2, NBN
43larynx liposarcoma9.8BRCA1, BRCA2, NBN
44hidradenoma9.8BRCA1, BRCA2
45lymphedema-distichiasis syndrome9.8BRCA1, BRCA2, NBN
46nevoid hypermelanosis, linear and whorled9.7BRCA1, BRCA2
47split-hand/foot malformation with long bone deficiency 19.6BRCA1, 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

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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:00020069.3BRCA1, BRCA2, NBN

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

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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

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Anatomical Context for Breast-Ovarian Cancer, Familial, 1

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

36
Breast, Prostate, Ovary

Publications for Breast-Ovarian Cancer, Familial, 1

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Variations for Breast-Ovarian Cancer, Familial, 1

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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 2,182)
id Gene Variation Type Significance SNP ID Assembly Location
1BRCA1undetermined variantPathogenic
2BRCA1undetermined variantPathogenic
3BRCA1undetermined variantPathogenic
4BRCA1NM_ 007294.3(BRCA1): c.882delA (p.Asp295Thrfs)deletionPathogenicrs80357587GRCh38Chr 17, 43094649: 43094649
5BRCA1undetermined variantPathogenic
6BRCA1NM_ 007294.3(BRCA1): c.902_ 903insT (p.Lys301Asnfs)insertionPathogenicrs80357726GRCh38Chr 17, 43094628: 43094629
7BRCA1NM_ 007294.3(BRCA1): c.984_ 985insC (p.Asn329Glnfs)insertionPathogenicrs80357775GRCh38Chr 17, 43094546: 43094547
8BRCA1NM_ 007294.3(BRCA1): c.1101_ 1102insC (p.Glu368Argfs)insertionPathogenicrs80357665GRCh37Chr 17, 41246446: 41246447
9BRCA1NM_ 007294.3(BRCA1): c.1129dupA (p.Ser377Lysfs)duplicationPathogenicrs80357776GRCh38Chr 17, 43094402: 43094402
10BRCA1NM_ 007294.3(BRCA1): c.19_ 47del29 (p.Arg7Cysfs)deletionPathogenicrs80359871GRCh38Chr 17, 43124050: 43124078
11BRCA1NM_ 007294.3(BRCA1): c.1356delA (p.Glu453Argfs)deletionPathogenicrs80357939GRCh38Chr 17, 43094175: 43094175
12BRCA1U14680.1: n.1506AtoGinsGinsertionPathogenic
13BRCA1NM_ 007294.3(BRCA1): c.1392dupC (p.Tyr465Leufs)duplicationPathogenicrs80357592GRCh37Chr 17, 41246156: 41246156
14BRCA1NM_ 007294.3(BRCA1): c.1440_ 1441insA (p.Leu481Thrfs)insertionPathogenicrs80357778GRCh38Chr 17, 43094090: 43094091
15BRCA1NM_ 007294.3(BRCA1): c.1462dupA (p.Thr488Asnfs)duplicationPathogenicrs80357599GRCh37Chr 17, 41246086: 41246086
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)duplicationPathogenicrs273897664GRCh38Chr 17, 43093836: 43093836
20BRCA1NM_ 007294.3(BRCA1): c.1700dupA (p.Asn567Lysfs)duplicationPathogenicrs80357784GRCh37Chr 17, 41245848: 41245848
21BRCA1NM_ 007294.3(BRCA1): c.70_ 71insA (p.Cys24Terfs)insertionPathogenicrs80357536GRCh37Chr 17, 41276043: 41276044
22BRCA1NM_ 007294.3(BRCA1): c.70_ 71insTGTC (p.Cys24Leufs)insertionPathogenicrs80357536GRCh38Chr 17, 43124026: 43124027
23BRCA1NM_ 007294.3(BRCA1): c.1812delA (p.Ala605Hisfs)deletionPathogenicrs80357927GRCh37Chr 17, 41245736: 41245736
24BRCA1NM_ 007294.3(BRCA1): c.80+1G> CSNVPathogenicrs80358010GRCh38Chr 17, 43124016: 43124016
25BRCA1NM_ 007294.3(BRCA1): c.80+1G> TSNVPathogenicrs80358010GRCh38Chr 17, 43124016: 43124016
26BRCA1NM_ 007294.3(BRCA1): c.80+2T> GSNVPathogenicrs80358128GRCh37Chr 17, 41276032: 41276032
27BRCA1NM_ 007294.3(BRCA1): c.1893_ 1894insT (p.Ser632Terfs)insertionPathogenicrs80357768GRCh38Chr 17, 43093637: 43093638
28BRCA1NM_ 007294.3(BRCA1): c.2038_ 2039insCC (p.Lys680Thrfs)insertionPathogenicrs80357940GRCh37Chr 17, 41245509: 41245510
29BRCA1NM_ 007294.3(BRCA1): c.2077_ 2078insTA (p.Asp693Valfs)insertionPathogenicrs80357595GRCh38Chr 17, 43093453: 43093454
30BRCA1NM_ 007294.3(BRCA1): c.2098_ 2099insA (p.Leu700Hisfs)insertionPathogenicrs483353086GRCh37Chr 17, 41245449: 41245450
31BRCA1U14680.1: n.2294delGdeletionPathogenic
32BRCA1NM_ 007294.3(BRCA1): c.2188dupG (p.Glu730Glyfs)duplicationPathogenicrs80357566GRCh37Chr 17, 41245360: 41245360
33BRCA1NM_ 007294.3(BRCA1): c.2214delT (p.Val740Cysfs)deletionPathogenicrs80357574GRCh37Chr 17, 41245334: 41245334
34BRCA1NM_ 007294.3(BRCA1): c.2215_ 2216insCT (p.Lys739Thrfs)insertionPathogenicrs80357930GRCh38Chr 17, 43093315: 43093316
35BRCA1NM_ 007294.3(BRCA1): c.2217dupA (p.Val740Serfs)duplicationPathogenicrs80357802GRCh38Chr 17, 43093314: 43093314
36BRCA1NM_ 007294.3(BRCA1): c.2273dupT (p.Leu758Phefs)duplicationPathogenicrs80357681GRCh38Chr 17, 43093258: 43093258
37BRCA1NM_ 007294.3(BRCA1): c.2309C> T (p.Ser770Leu)SNVPathogenicrs80357063GRCh38Chr 17, 43093222: 43093222
38BRCA1NM_ 007294.3(BRCA1): c.2337_ 2338delTC (p.Gln780Glyfs)deletionPathogenicrs80357515GRCh38Chr 17, 43093193: 43093194
39BRCA1NM_ 007294.3(BRCA1): c.2355dupA (p.Leu786Thrfs)duplicationPathogenicrs80357990GRCh37Chr 17, 41245193: 41245193
40BRCA1U14680.1: n.2494delCdeletionPathogenic
41BRCA1NM_ 007294.3(BRCA1): c.2376delG (p.Lys793Argfs)deletionPathogenicrs80357913GRCh38Chr 17, 43093155: 43093155
42BRCA1U14680.1: n.252_ 256del5insTinsertionPathogenic
43BRCA1NM_ 007294.3(BRCA1): c.134+1G> CSNVPathogenicrs80358043GRCh37Chr 17, 41267742: 41267742
44BRCA1NM_ 007294.3(BRCA1): c.135-2A> GSNVPathogenic/ Likely pathogenicrs80358065GRCh38Chr 17, 43106535: 43106535
45BRCA1NM_ 007294.3(BRCA1): c.2438dupG (p.Leu814Thrfs)duplicationPathogenicrs80357503GRCh37Chr 17, 41245110: 41245110
46BRCA1NM_ 007294.3(BRCA1): c.139dupT (p.Cys47Leufs)duplicationPathogenicrs80357734GRCh37Chr 17, 41258546: 41258546
47BRCA1NM_ 007294.3(BRCA1): c.2474dupA (p.Asp825Glufs)duplicationPathogenicrs80357830GRCh38Chr 17, 43093057: 43093057
48BRCA1U14680.1: n.2607dupAAGTATCCATduplicationPathogenic
49BRCA1NM_ 007294.3(BRCA1): c.2586_ 2593delGGTTTCAA (p.Val863Alafs)deletionPathogenicrs80357675GRCh37Chr 17, 41244955: 41244962
50BRCA1NM_ 007294.3(BRCA1): c.2658_ 2659insA (p.Ala887Serfs)insertionPathogenicrs80357541GRCh38Chr 17, 43092872: 43092873
51BRCA1NM_ 007294.3(BRCA1): c.2686delA (p.Ser896Valfs)deletionPathogenicrs273899687GRCh38Chr 17, 43092845: 43092845
52BRCA1NM_ 007294.3(BRCA1): c.171delG (p.Pro58Leufs)deletionPathogenicrs80357660GRCh37Chr 17, 41258514: 41258514
53BRCA1NM_ 007294.3(BRCA1): c.2799delT (p.Gln934Argfs)deletionPathogenicrs80357998GRCh38Chr 17, 43092732: 43092732
54BRCA1NM_ 007294.3(BRCA1): c.2868delT (p.Gln957Serfs)deletionPathogenicrs80357929GRCh38Chr 17, 43092663: 43092663
55BRCA1NM_ 007294.3(BRCA1): c.2871_ 2872insA (p.Phe958Ilefs)insertionPathogenicrs80357693GRCh37Chr 17, 41244676: 41244677
56BRCA1NM_ 007294.3(BRCA1): c.2889_ 2890delTG (p.Gly964Thrfs)deletionPathogenicrs80357890GRCh38Chr 17, 43092641: 43092642
57BRCA1NM_ 007294.3(BRCA1): c.2995_ 2996delCTinsTA (p.Leu999Ter)indelPathogenicrs273899692GRCh38Chr 17, 43092535: 43092536
58BRCA1NM_ 007294.3(BRCA1): c.3044dupG (p.Asn1016Lysfs)duplicationPathogenicrs80357746GRCh37Chr 17, 41244504: 41244504
59BRCA1NM_ 007294.3(BRCA1): c.3053_ 3054insTGAGA (p.Ile1019Glufs)insertionPathogenicrs80357547GRCh37Chr 17, 41244494: 41244495
60BRCA1NM_ 007294.3(BRCA1): c.3114_ 3117delAGCCinsGA (p.Ala1039Lysfs)indelPathogenicrs273899700GRCh37Chr 17, 41244431: 41244434
61BRCA1U14680.1: n.3235_ 3238delCAGCdeletionPathogenic
62BRCA1NM_ 007294.3(BRCA1): c.3158_ 3159insG (p.Val1054Serfs)insertionPathogenicrs80357769GRCh38Chr 17, 43092372: 43092373
63U14680.1: n.331+1G> A,del22deletionPathogenic
64BRCA1NM_ 007294.3(BRCA1): c.3194_ 3195insG (p.Asp1065Glufs)insertionPathogenicrs80357883GRCh37Chr 17, 41244353: 41244354
65BRCA1NM_ 007294.3(BRCA1): c.213-3C> GSNVPathogenicrs80358119GRCh38Chr 17, 43104959: 43104959
66BRCA1NM_ 007294.3(BRCA1): c.3256_ 3257insGA (p.Leu1086Terfs)insertionPathogenicrs80357764GRCh37Chr 17, 41244291: 41244292
67BRCA1NM_ 007294.3(BRCA1): c.3288_ 3289ins46 (p.?)insertionPathogenicrs483353088GRCh37Chr 17, 41244259: 41244260
68BRCA1NM_ 007294.3(BRCA1): c.3330_ 3331insA (p.Gln1111Thrfs)insertionPathogenicrs80357996GRCh38Chr 17, 43092200: 43092201
69BRCA1NM_ 007294.3(BRCA1): c.3351dupT (p.Gln1118Serfs)duplicationPathogenicrs80357785GRCh38Chr 17, 43092180: 43092180
70BRCA1NM_ 007294.3(BRCA1): c.3357delT (p.Val1120Leufs)deletionPathogenicrs80357827GRCh38Chr 17, 43092174: 43092174
71BRCA1NM_ 007294.3(BRCA1): c.3462dupA (p.Asp1155Argfs)duplicationPathogenicrs80357857GRCh37Chr 17, 41244086: 41244086
72BRCA1NM_ 007294.3(BRCA1): c.243delA (p.Gln81Hisfs)deletionPathogenicrs273899684GRCh37Chr 17, 41256943: 41256943
73BRCA1NM_ 007294.3(BRCA1): c.3516_ 3517ins100 (p.?)insertionPathogenicGRCh38Chr 17, 43092014: 43092015
74BRCA1NM_ 007294.3(BRCA1): c.3548_ 3549delAA (p.Lys1183Argfs)deletionPathogenicrs80357956GRCh38Chr 17, 43091982: 43091983
75BRCA1NM_ 007294.3(BRCA1): c.3571_ 3572ins4insertionPathogenicrs483353089GRCh37Chr 17, 41243976: 41243977
76BRCA1U14680.1: n.3702delAdeletionPathogenic
77BRCA1NM_ 007294.3(BRCA1): c.3620dupA (p.Lys1208Glufs)duplicationPathogenicrs80357926GRCh37Chr 17, 41243928: 41243928
78BRCA1NM_ 007294.3(BRCA1): c.3649_ 3650insA (p.Ser1217Tyrfs)insertionPathogenicrs80357831GRCh37Chr 17, 41243898: 41243899
79BRCA1NM_ 007294.3(BRCA1): c.3766dupA (p.Thr1256Asnfs)duplicationPathogenicrs80357704GRCh38Chr 17, 43091765: 43091765
80BRCA1NM_ 007294.3(BRCA1): c.3771_ 3772delGG (p.Asn1259Phefs)deletionPathogenicrs80357810GRCh38Chr 17, 43091759: 43091760
81BRCA1NM_ 007294.3(BRCA1): c.3778_ 3779insA (p.Leu1260Tyrfs)insertionPathogenicrs80357849GRCh37Chr 17, 41243769: 41243770
82BRCA1NM_ 007294.3(BRCA1): c.3830dupC (p.Ala1279Glyfs)duplicationPathogenicrs80357878GRCh38Chr 17, 43091701: 43091701
83BRCA1NM_ 007294.3(BRCA1): c.3867_ 3871delAAAAT (p.Lys1290Phefs)deletionPathogenicrs80357560GRCh38Chr 17, 43091660: 43091664
84BRCA1NM_ 007294.3(BRCA1): c.3908dupT (p.Leu1303Phefs)duplicationPathogenicrs80357634GRCh37Chr 17, 41243640: 41243640
85BRCA1NM_ 007294.3(BRCA1): c.288_ 292delCACAGins7indelPathogenicrs483353091GRCh37Chr 17, 41256894: 41256898
86BRCA1NM_ 007294.3(BRCA1): c.4050_ 4051insG (p.Leu1351Valfs)insertionPathogenicrs483353092GRCh38Chr 17, 43091480: 43091481
87BRCA1NM_ 007294.3(BRCA1): c.302-1G> TSNVPathogenicrs80358116GRCh38Chr 17, 43104262: 43104262
88BRCA1NM_ 007294.3(BRCA1): c.302-2A> TSNVPathogenicrs80358011GRCh38Chr 17, 43104263: 43104263
89BRCA1NM_ 007294.3(BRCA1): c.302-2_ 302-1deldeletionPathogenicrs483353093GRCh38Chr 17, 43104262: 43104263
90BRCA1NM_ 007294.3(BRCA1): c.4110_ 4111delTG (p.Gly1371Valfs)deletionPathogenicrs80357529GRCh38Chr 17, 43091018: 43091019
91BRCA1NM_ 007294.3(BRCA1): c.4111_ 4112insATCT (p.Gly1371Aspfs)insertionPathogenicrs80357935GRCh37Chr 17, 41243034: 41243035
92BRCA1NM_ 007294.3(BRCA1): c.4113delG (p.Cys1372Valfs)deletionPathogenicrs80357861GRCh38Chr 17, 43091016: 43091016
93BRCA1NM_ 007294.3(BRCA1): c.4128_ 4129delAA (p.Ser1377Argfs)deletionPathogenicrs80357921GRCh38Chr 17, 43091000: 43091001
94BRCA1NM_ 007294.3(BRCA1): c.4163dupA (p.Ser1389Glufs)duplicationPathogenicrs80357788GRCh37Chr 17, 41242983: 41242983
95BRCA1NM_ 007294.3(BRCA1): c.4167_ 4168insAG (p.Asp1390Argfs)insertionPathogenicrs80357847GRCh38Chr 17, 43090961: 43090962
96BRCA1U14680.1: n.4305-1643_ del3835deletionPathogenic
97BRCA1NM_ 007294.3(BRCA1): c.4214delT (p.Ile1405Lysfs)deletionPathogenicrs273900728GRCh37Chr 17, 41234564: 41234564
98BRCA1NM_ 007294.3(BRCA1): c.4285_ 4286insG (p.Tyr1429Terfs)insertionPathogenicrs80357716GRCh38Chr 17, 43082475: 43082476
99BRCA1NM_ 007294.3(BRCA1): c.4289dupC (p.Ser1431Phefs)duplicationPathogenicrs80357556GRCh37Chr 17, 41234489: 41234489
100BRCA1NM_ 007294.3(BRCA1): c.4338_ 4339ins4insertionPathogenicrs397509164GRCh38Chr 17, 43082422: 43082423
101BRCA1NM_ 007294.3(BRCA1): c.4463dupA (p.Asn1488Lysfs)duplicationPathogenicrs80357620GRCh38Chr 17, 43076509: 43076509
102BRCA1NM_ 007294.3(BRCA1): c.4644_ 4645ins8insertionPathogenicrs483353094GRCh37Chr 17, 41226378: 41226379
103BRCA1NM_ 007294.3(BRCA1): c.4675+3A> TSNVPathogenicrs80358082GRCh37Chr 17, 41226345: 41226345
104BRCA1NM_ 007294.3(BRCA1): c.4676-1G> ASNVPathogenic/ Likely pathogenicrs80358008GRCh38Chr 17, 43071239: 43071239
105BRCA1NM_ 007294.3(BRCA1): c.4676-2A> GSNVPathogenic/ Likely pathogenicrs80358096GRCh38Chr 17, 43071240: 43071240
106BRCA1NM_ 007294.3(BRCA1): c.4696_ 4697insA (p.Ser1566Tyrfs)insertionPathogenicrs483353095GRCh38Chr 17, 43071217: 43071218
107BRCA1NM_ 007294.3(BRCA1): c.4764_ 4765delTC (p.Arg1589Cysfs)deletionPathogenicrs80357795GRCh38Chr 17, 43071149: 43071150
108BRCA1NM_ 007294.3(BRCA1): c.4843dupG (p.Ala1615Glyfs)duplicationPathogenicrs80357615GRCh38Chr 17, 43071071: 43071071
109BRCA1NM_ 007294.3(BRCA1): c.4891dupA (p.Ser1631Lysfs)duplicationPathogenicrs80357656GRCh38Chr 17, 43071023: 43071023
110BRCA1NM_ 007294.3(BRCA1): c.4944_ 4945delAA (p.Arg1649Asnfs)deletionPathogenicrs80357655GRCh38Chr 17, 43070969: 43070970
111BRCA1NM_ 007294.3(BRCA1): c.4986+1G> ASNVPathogenicrs80358162GRCh38Chr 17, 43070927: 43070927
112BRCA1U14680.1: n.5106-1A> GSNVPathogenic
113BRCA1NM_ 007294.3(BRCA1): c.5007_ 5008ins13 (p.?)insertionPathogenicrs483353097GRCh38Chr 17, 43067674: 43067675
114BRCA1NM_ 007294.3(BRCA1): c.5033_ 5034ins4insertionPathogenicrs483353098GRCh37Chr 17, 41219665: 41219666
115BRCA1NM_ 007294.3(BRCA1): c.5056dupC (p.His1686Profs)duplicationPathogenicrs80357974GRCh38Chr 17, 43067626: 43067626
116BRCA1NM_ 007294.3(BRCA1): c.5075-1G> CSNVPathogenicrs1800747GRCh38Chr 17, 43063952: 43063952
117BRCA1NM_ 007294.3(BRCA1): c.5098delA (p.Thr1700Hisfs)deletionPathogenicrs483353099GRCh38Chr 17, 43063928: 43063928
118BRCA1NM_ 007294.3(BRCA1): c.5145delC (p.Tyr1716Ilefs)deletionPathogenicrs80357870GRCh37Chr 17, 41215898: 41215898
119BRCA1NM_ 007294.3(BRCA1): c.5152+1G> ASNVPathogenicrs80358094GRCh37Chr 17, 41215890: 41215890
120BRCA1NM_ 007294.3(BRCA1): c.5152+3_ 5152+4insTinsertionPathogenicrs273901744GRCh37Chr 17, 41215887: 41215888
121BRCA1U14680.1: n.5312+3_ del13deletionPathogenic
122BRCA1NM_ 007294.3(BRCA1): c.5194-1G> ASNVPathogenicrs80358173GRCh37Chr 17, 41209153: 41209153
123BRCA1NM_ 007294.3(BRCA1): c.5241delA (p.Gly1748Valfs)deletionPathogenicrs80357791GRCh38Chr 17, 43057088: 43057088
124BRCA1U14680.1: n.5389_ 5395delCAGAAAGdeletionPathogenic
125BRCA1U14680.1: n.5396+1_ del6deletionPathogenic
126BRCA1NM_ 007294.3(BRCA1): c.5304delC (p.Tyr1769Metfs)deletionPathogenicrs80357959GRCh38Chr 17, 43051091: 43051091
127BRCA1U14680.1: n.5430_ 5452del23deletionPathogenic
128BRCA1NM_ 007294.3(BRCA1): c.5332+2T> ASNVPathogenicrs80358182GRCh38Chr 17, 43051061: 43051061
129BRCA1U14680.1: n.5452-36_ del510deletionPathogenic
130BRCA1NM_ 007294.3(BRCA1): c.5352dupA (p.Gln1785Thrfs)duplicationPathogenicrs80357744GRCh38Chr 17, 43049175: 43049175
131BRCA1NM_ 007294.3(BRCA1): c.5370_ 5397del28 (p.Val1791Leufs)deletionPathogenicrs80359878GRCh38Chr 17, 43049130: 43049157
132BRCA1NM_ 007294.3(BRCA1): c.5406+2deldeletionPathogenicrs273901765GRCh38Chr 17, 43049119: 43049119
133BRCA1NM_ 007294.3(BRCA1): c.5407-1G> ASNVPathogenicrs80358029GRCh38Chr 17, 43047704: 43047704
134BRCA1NM_ 007294.3(BRCA1): c.5407-1G> CSNVPathogenicrs80358029GRCh38Chr 17, 43047704: 43047704
135BRCA1NM_ 007294.3(BRCA1): c.5407-2A> TSNVPathogenicrs80358002GRCh37Chr 17, 41199722: 41199722
136BRCA1NM_ 007294.3(BRCA1): c.5464_ 5465insT (p.His1822Leufs)insertionPathogenicrs273902769GRCh37Chr 17, 41199662: 41199663
137BRCA1NM_ 007294.3(BRCA1): c.5467+2T> CSNVPathogenic/ Likely pathogenicrs80358009GRCh38Chr 17, 43047641: 43047641
138BRCA1NM_ 007294.3(BRCA1): c.5467+2T> GSNVPathogenicrs80358009GRCh38Chr 17, 43047641: 43047641
139BRCA1NM_ 007294.3(BRCA1): c.5468-1G> ASNVPathogenic/ Likely pathogenicrs80358048GRCh38Chr 17, 43045803: 43045803
140BRCA1NM_ 007294.3(BRCA1): c.5468-40T> ASNVPathogenicrs80358151GRCh37Chr 17, 41197859: 41197859
141BRCA1NM_ 007294.3(BRCA1): c.5490delA (p.Pro1831Leufs)deletionPathogenicrs80357976GRCh38Chr 17, 43045780: 43045780
142BRCA1NM_ 007294.3(BRCA1): c.442-2A> CSNVPathogenicrs80358155GRCh38Chr 17, 43099882: 43099882
143BRCA1NM_ 007294.3(BRCA1): c.5498_ 5511delTGACCCGAGAGTGG (p.Val1833Glyfs)deletionPathogenicrs80359873GRCh37Chr 17, 41197776: 41197789
144BRCA1L824XSNVPathogenic
145BRCA1NM_ 007294.3(BRCA1): c.5534_ 5539delACCAGTins20 (p.?)indelPathogenicrs483353102GRCh37Chr 17, 41197748: 41197753
146BRCA1NM_ 007294.3(BRCA1): c.5563delAins6indelPathogenicrs483353103GRCh38Chr 17, 43045707: 43045707
147BRCA1NM_ 007294.3(BRCA1): c.456_ 457delCA (p.Ser153Cysfs)deletionPathogenicrs80357882GRCh37Chr 17, 41251882: 41251883
148BRCA1NM_ 007294.3(BRCA1): c.547+1G> ASNVPathogenic/ Likely pathogenicrs80358030GRCh37Chr 17, 41251791: 41251791
149BRCA1NM_ 007294.3(BRCA1): c.625_ 626ins20 (p.?)insertionPathogenicrs483353106GRCh38Chr 17, 43095890: 43095891
150BRCA1NM_ 007294.3(BRCA1): c.668dupA (p.Ala224Glyfs)duplicationPathogenicrs80357537GRCh37Chr 17, 41247865: 41247865
151BRCA1NM_ 007294.3(BRCA1): c.671-1G> TSNVPathogenic/ Likely pathogenicrs80358020GRCh38Chr 17, 43094861: 43094861
152BRCA1NM_ 007294.3(BRCA1): c.807_ 808ins11 (p.?)insertionPathogenicrs483353107GRCh37Chr 17, 41246740: 41246741
153BRCA1NM_ 007294.3(BRCA1): c.833_ 834insA (p.His279Serfs)insertionPathogenicrs483353108GRCh38Chr 17, 43094697: 43094698
154BRCA1NM_ 007294.3(BRCA1): c.851_ 852ins7insertionPathogenicrs483353109GRCh38Chr 17, 43094679: 43094680
155BRCA1NM_ 007294.3(BRCA1): c.2506delG (p.Glu836Lysfs)deletionPathogenicrs587780798GRCh37Chr 17, 41245042: 41245042
156BRCA1NM_ 007294.3(BRCA1): c.3874delT (p.Ser1292Leufs)deletionPathogenicrs587780802GRCh37Chr 17, 41243674: 41243674
157BRCA1NM_ 007294.3(BRCA1): c.5205delA (p.Val1736Serfs)deletionPathogenicrs587781258GRCh37Chr 17, 41209141: 41209141
158BRCA1NM_ 007294.3(BRCA1): c.2621delA (p.Asn874Ilefs)deletionPathogenicrs587781423GRCh37Chr 17, 41244927: 41244927
159BRCA1NM_ 007294.3(BRCA1): c.485dupT (p.Arg163Glufs)duplicationPathogenicrs587781427GRCh37Chr 17, 41251854: 41251854
160BRCA1NM_ 007294.3(BRCA1): c.512dupT (p.Gln172Thrfs)duplicationPathogenicrs587781487GRCh37Chr 17, 41251827: 41251827
161BRCA1NM_ 007294.3(BRCA1): c.4401delG (p.Asn1468Ilefs)deletionPathogenicrs587781611GRCh38Chr 17, 43076571: 43076571
162BRCA2NM_ 000059.3(BRCA2): c.1909+1G> ASNVPathogenic/ Likely pathogenicrs587781629GRCh38Chr 13, 32333388: 32333388
163BRCA1NM_ 007294.3(BRCA1): c.192T> A (p.Cys64Ter)SNVPathogenicrs587781632GRCh38Chr 17, 43106476: 43106476
164BRCA2NM_ 000059.3(BRCA2): c.6816_ 6820delAAGAG (p.Gly2274Alafs)deletionPathogenicrs587781803GRCh37Chr 13, 32915308: 32915312
165BRCA1NM_ 007294.3(BRCA1): c.5310_ 5311delGC (p.Pro1771Leufs)deletionPathogenicrs587781825GRCh37Chr 17, 41203101: 41203102
166BRCA1NM_ 007294.3(BRCA1): c.4655dupA (p.Tyr1552Terfs)duplicationPathogenicrs587782143GRCh37Chr 17, 41226368: 41226368
167BRCA1NM_ 007294.3(BRCA1): c.301+1G> ASNVPathogenic/ Likely pathogenicrs587782173GRCh37Chr 17, 41256884: 41256884
168BRCA1NM_ 007294.3(BRCA1): c.1488delT (p.Leu498Serfs)deletionPathogenicrs587782251GRCh37Chr 17, 41246060: 41246060
169BRCA1NM_ 007294.3(BRCA1): c.4799dupT (p.Leu1600Phefs)duplicationPathogenicrs587782392GRCh38Chr 17, 43071115: 43071115
170BRCA1NM_ 007294.3(BRCA1): c.2593A> T (p.Lys865Ter)SNVPathogenicrs587782628GRCh37Chr 17, 41244955: 41244955
171BRCA1NM_ 007294.3(BRCA1): c.335_ 338delATAA (p.Asn112Thrfs)deletionPathogenicrs587782666GRCh37Chr 17, 41256242: 41256245
172BRCA1NM_ 007294.3(BRCA1): c.2056G> T (p.Glu686Ter)SNVPathogenicrs587782709GRCh37Chr 17, 41245492: 41245492
173BRCA1NM_ 007294.3(BRCA1): c.4389C> G (p.Tyr1463Ter)SNVPathogenicrs80356997GRCh37Chr 17, 41228600: 41228600
174BRCA1NM_ 007294.3(BRCA1): c.3969_ 3970delAA (p.Gln1323Hisfs)deletionPathogenicrs587782834GRCh38Chr 17, 43091561: 43091562
175BRCA1NM_ 007294.3(BRCA1): c.4250delT (p.Val1417Glyfs)deletionPathogenicrs587782879GRCh38Chr 17, 43082511: 43082511
176BRCA1NM_ 007294.3(BRCA1): c.1612_ 1616delCAAAC (p.Gln538Glyfs)deletionPathogenicrs587776480GRCh38Chr 17, 43093915: 43093919
177BRCA1NM_ 007294.3(BRCA1): c.273_ 274delTG (p.Ala92Phefs)deletionPathogenicrs587776485GRCh38Chr 17, 43104895: 43104896
178BRCA1NM_ 007294.3(BRCA1): c.4468G> T (p.Glu1490Ter)SNVPathogenicrs138608489GRCh37Chr 17, 41228521: 41228521
179BRCA1NM_ 007294.3(BRCA1): c.181T> G (p.Cys61Gly)SNVPathogenicrs28897672GRCh37Chr 17, 41258504: 41258504
180BRCA1NM_ 007294.3(BRCA1): c.68_ 69delAG (p.Glu23Valfs)deletionPathogenicrs80357783GRCh37Chr 17, 41276047: 41276048
181BRCA1BRCA1, 59-BP INSinsertionPathogenic
182BRCA1NM_ 007294.3(BRCA1): c.1175_ 1214del40 (p.Leu392Glnfs)deletionPathogenicrs80359874GRCh37Chr 17, 41246334: 41246373
183BRCA1NM_ 007294.3(BRCA1): c.2296_ 2297delAG (p.Ser766Terfs)deletionPathogenicrs80357780GRCh37Chr 17, 41245251: 41245252
184BRCA1NM_ 007294.3(BRCA1): c.2681_ 2682delAA (p.Lys894Thrfs)deletionPathogenicrs80357971GRCh37Chr 17, 41244866: 41244867
185BRCA1NM_ 007294.3(BRCA1): c.3005delA (p.Asn1002Thrfs)deletionPathogenicrs80357601GRCh37Chr 17, 41244543: 41244543
186BRCA1NM_ 007294.3(BRCA1): c.3607C> T (p.Arg1203Ter)SNVPathogenicrs62625308GRCh37Chr 17, 41243941: 41243941
187BRCA1NM_ 007294.3(BRCA1): c.3748G> T (p.Glu1250Ter)SNVPathogenicrs28897686GRCh37Chr 17, 41243800: 41243800
188BRCA1NM_ 007294.3(BRCA1): c.3756_ 3759delGTCT (p.Ser1253Argfs)deletionPathogenicrs80357868GRCh37Chr 17, 41243789: 41243792
189BRCA1NM_ 007294.3(BRCA1): c.4065_ 4068delTCAA (p.Asn1355Lysfs)deletionPathogenicrs80357508GRCh37Chr 17, 41243480: 41243483
190BRCA1NM_ 007294.3(BRCA1): c.4327C> T (p.Arg1443Ter)SNVPathogenicrs41293455GRCh37Chr 17, 41234451: 41234451
191BRCA1NM_ 007294.3(BRCA1): c.5266dupC (p.Gln1756Profs)duplicationPathogenicrs80357906GRCh37Chr 17, 41209082: 41209082
192BRCA1NM_ 007294.3(BRCA1): c.4966_ 4984del19 (p.Gly1656Leufs)deletionPathogenicrs80359884GRCh37Chr 17, 41222947: 41222965
193BRCA1NM_ 007294.3(BRCA1): c.2389G> T (p.Glu797Ter)SNVPathogenicrs62625306GRCh37Chr 17, 41245159: 41245159
194BRCA1NM_ 007294.3(BRCA1): c.843_ 846delCTCA (p.Ser282Tyrfs)deletionPathogenicrs80357919GRCh37Chr 17, 41246702: 41246705
195BRCA1NM_ 007294.3(BRCA1): c.3481_ 3491delGAAGATACTAG (p.Glu1161Phefs)deletionPathogenicrs80357877GRCh37Chr 17, 41244057: 41244067
196BRCA1NM_ 007294.3(BRCA1): c.1556delA (p.Lys519Argfs)deletionPathogenicrs80357662GRCh37Chr 17, 41245992: 41245992
197BRCA1BRCA1, 1-BP DEL, 4153AdeletionPathogenic
198BRCA1BRCA1, 6-KB DUP, EX13insertionPathogenic
199BRCA1NM_ 007294.3(BRCA1): c.211A> G (p.Arg71Gly)SNVPathogenic/ Likely pathogenicrs80357382GRCh37Chr 17, 41258474: 41258474
200BRCA1NM_ 007294.3(BRCA1): c.5324T> G (p.Met1775Arg)SNVPathogenicrs41293463GRCh37Chr 17, 41203088: 41203088
201BRCA1NM_ 007294.3(BRCA1): c.5324T> A (p.Met1775Lys)SNVPathogenicrs41293463GRCh37Chr 17, 41203088: 41203088
202BRCA1NM_ 007294.3(BRCA1): c.4837_ 4838delAGinsGCC (p.Ser1613Alafs)indelPathogenicrs730880287GRCh38Chr 17, 43071076: 43071077
203BRCA1NM_ 007294.3(BRCA1): c.5133delA (p.Lys1711Asnfs)deletionPathogenicrs730880288GRCh38Chr 17, 43063893: 43063893
204BRCA1NM_ 007294.3(BRCA1): c.2938delA (p.Ile980Tyrfs)deletionPathogenicrs730881439GRCh37Chr 17, 41244610: 41244610
205BRCA1NM_ 007294.3(BRCA1): c.3767_ 3768delCA (p.Thr1256Argfs)deletionPathogenicrs730881440GRCh38Chr 17, 43091763: 43091764
206BRCA1NM_ 007294.3(BRCA1): c.5474_ 5481delGGCAGATG (p.Gly1825Valfs)deletionPathogenicrs730881441GRCh38Chr 17, 43045789: 43045796
207BRCA1NM_ 007294.3(BRCA1): c.45delT (p.Asn16Metfs)deletionPathogenicrs730881457GRCh38Chr 17, 43124052: 43124052
208BRCA1NM_ 007294.3(BRCA1): c.1340_ 1341delTT (p.Val447Alafs)deletionPathogenicrs730881458GRCh38Chr 17, 43094190: 43094191
209BRCA1NM_ 007294.3(BRCA1): c.1860delT (p.His621Metfs)deletionPathogenicrs730881459GRCh38Chr 17, 43093671: 43093671
210BRCA1NM_ 007294.3(BRCA1): c.2945delC (p.Pro982Hisfs)deletionPathogenicrs730881461GRCh38Chr 17, 43092586: 43092586
211BRCA1NM_ 007294.3(BRCA1): c.3129_ 3138delTATTAATGAA (p.Asn1043Lysfs)deletionPathogenicrs730881462GRCh38Chr 17, 43092393: 43092402
212BRCA1NM_ 007294.3(BRCA1): c.869T> G (p.Leu290Ter)SNVPathogenicrs730881468GRCh38Chr 17, 43094662: 43094662
213BRCA1NM_ 007294.3(BRCA1): c.1714G> T (p.Glu572Ter)SNVPathogenicrs730881473GRCh38Chr 17, 43093817: 43093817
214BRCA1NM_ 007294.3(BRCA1): c.4987-1G> ASNVPathogenicrs730881495GRCh38Chr 17, 43067696: 43067696
215BRCA1NM_ 007294.3(BRCA1): c.3511A> T (p.Lys1171Ter)SNVPathogenicrs730882164GRCh37Chr 17, 41244037: 41244037
216BRCA1NM_ 007294.3(BRCA1): c.4998C> A (p.Tyr1666Ter)SNVPathogenicrs730882165GRCh37Chr 17, 41219701: 41219701
217BRCA1NM_ 007294.3(BRCA1): c.5167delAinsTTT (p.Ile1723Phefs)indelPathogenicrs730882167GRCh37Chr 17, 41215376: 41215376
218BRCA1NM_ 007294.3(BRCA1): c.5194-?_ 5277+?deldeletionPathogenic
219BRCA1NM_ 007294.3(BRCA1): c.5269_ 5273delGACAG (p.Asp1757Lysfs)deletionPathogenicrs786202040GRCh37Chr 17, 41209073: 41209077
220BRCA1NM_ 007294.3(BRCA1): c.4834C> T (p.Gln1612Ter)SNVPathogenicrs786202064GRCh37Chr 17, 41223097: 41223097
221BRCA1NM_ 007294.3(BRCA1): c.212G> T (p.Arg71Met)SNVPathogenic/ Likely pathogenicrs80356913GRCh37Chr 17, 41258473: 41258473
222BRCA1NM_ 007294.3(BRCA1): c.5153-2A> GSNVPathogenic/ Likely pathogenicrs786202545GRCh37Chr 17, 41215392: 41215392
223BRCA1NM_ 007294.3(BRCA1): c.4523G> A (p.Trp1508Ter)SNVPathogenicrs786202631GRCh37Chr 17, 41226500: 41226500
224BRCA1NM_ 007294.3(BRCA1): c.2398_ 2401delAAAT (p.Lys800Valfs)deletionPathogenicrs786202684GRCh37Chr 17, 41245147: 41245150
225BRCA1NM_ 007294.3(BRCA1): c.3323_ 3324delTA (p.Ile1108Lysfs)deletionPathogenicrs786202791GRCh37Chr 17, 41244224: 41244225
226BRCA1NM_ 007294.3(BRCA1): c.3066delA (p.Val1023Terfs)deletionPathogenicrs786202906GRCh37Chr 17, 41244482: 41244482
227BRCA1NM_ 007294.3(BRCA1): c.2407_ 2408delAG (p.Gln804Valfs)deletionPathogenicrs786202919GRCh37Chr 17, 41245140: 41245141
228BRCA1NM_ 007294.3(BRCA1): c.3658delG (p.Asp1220Metfs)deletionPathogenicrs786202963GRCh37Chr 17, 41243890: 41243890
229BRCA1NM_ 007294.3(BRCA1): c.4099G> T (p.Glu1367Ter)SNVPathogenicrs786202998GRCh37Chr 17, 41243047: 41243047
230BRCA1NM_ 007294.3(BRCA1): c.1256dupT (p.Asp420Argfs)duplicationPathogenicrs786203103GRCh37Chr 17, 41246292: 41246292
231BRCA1NM_ 007294.3(BRCA1): c.4379delG (p.Ser1460Ilefs)deletionPathogenicrs786203149GRCh37Chr 17, 41228610: 41228610
232BRCA1NM_ 007294.3(BRCA1): c.2214dupT (p.Lys739Terfs)duplicationPathogenicrs397507197GRCh37Chr 17, 41245334: 41245334
233BRCA1NM_ 007294.3(BRCA1): c.416dupA (p.Ser140Glufs)duplicationPathogenicrs786203432GRCh37Chr 17, 41256164: 41256164
234BRCA1NM_ 007294.3(BRCA1): c.3481G> T (p.Glu1161Ter)SNVPathogenicrs786203438GRCh37Chr 17, 41244067: 41244067
235BRCA1NM_ 007294.3(BRCA1): c.3157G> T (p.Glu1053Ter)SNVPathogenicrs786203587GRCh37Chr 17, 41244391: 41244391
236BRCA1NM_ 007294.3(BRCA1): c.2654dupT (p.Ser886Leufs)duplicationPathogenicrs786203592GRCh37Chr 17, 41244894: 41244894
237BRCA1NM_ 007294.3(BRCA1): c.1964delA (p.Tyr655Serfs)deletionPathogenicrs786203594GRCh37Chr 17, 41245584: 41245584
238BRCA1NM_ 007294.3(BRCA1): c.5359_ 5363delTGTGGinsAGTGA (p.Cys1787_ Gly1788delinsSerAsp)indelPathogenicrs786203663GRCh37Chr 17, 41201181: 41201185
239BRCA1NM_ 007294.3(BRCA1): c.3478_ 3487delAAGGAAGATA (p.Lys1160Leufs)deletionPathogenicrs786203694GRCh37Chr 17, 41244061: 41244070
240BRCA1NM_ 007294.3(BRCA1): c.5027T> G (p.Leu1676Ter)SNVPathogenicrs786203754GRCh37Chr 17, 41219672: 41219672
241BRCA1NM_ 007294.3(BRCA1): c.3626T> G (p.Leu1209Ter)SNVPathogenicrs786203884GRCh37Chr 17, 41243922: 41243922
242BRCA1NM_ 007294.3(BRCA1): c.1477delA (p.Ile493Tyrfs)deletionPathogenicrs786203982GRCh37Chr 17, 41246071: 41246071
243BRCA1NM_ 007294.3(BRCA1): c.4186-?_ 4357+?dup172duplicationPathogenicGRCh37Chr 17, 41234421: 41234592
244BRCA1NM_ 007294.3(BRCA1): c.5278-?_ 5467+?deldeletionPathogenicGRCh37Chr 17, 41199660: 41203134
245BRCA1NM_ 007294.3(BRCA1): c.1240dupG (p.Asp414Glyfs)duplicationPathogenicrs786204260GRCh37Chr 17, 41246308: 41246308
246BRCA1NM_ 007294.3(BRCA1): c.885_ 886delCA (p.Asp295Glufs)deletionPathogenicrs786204261GRCh37Chr 17, 41246662: 41246663
247BRCA1NM_ 007294.3(BRCA1): c.892_ 895dupAATG (p.Val299Glufs)duplicationPathogenicrs80357806GRCh37Chr 17, 41246653: 41246656
248BRCA1NM_ 007294.3(BRCA1): c.984_ 988delTAATG (p.Cys328Terfs)deletionPathogenicrs786204262GRCh37Chr 17, 41246560: 41246564
249BRCA1NM_ 007294.3(BRCA1): c.2298dupT (p.Ser767Terfs)duplicationPathogenicrs786204264GRCh38Chr 17, 43093233: 43093233
250BRCA1NM_ 007294.3(BRCA1): c.4386dupA (p.Tyr1463Ilefs)duplicationPathogenicrs786204267GRCh38Chr 17, 43076586: 43076586
251BRCA1NM_ 007294.3(BRCA1): c.5543_ 5545delAGGins43 (p.?)indelLikely pathogenicrs786204270GRCh38Chr 17, 43045725: 43045727
252BRCA1NM_ 007294.3(BRCA1)insertionPathogenicrs797044631GRCh37Chr 17, 41243800: 41243801
253BRCA1NM_ 007294.3(BRCA1): c.594_ 597delTGTG (p.Ser198Argfs)deletionPathogenicrs797045175GRCh38Chr 17, 43095919: 43095922
254BRCA1NM_ 007294.3(BRCA1): c.4987-?_ 5193+?deldeletionPathogenicGRCh37Chr 17, 41215350: 41219712
255BRCA1NM_ 007294.3(BRCA1): c.2043dupT (p.Asn682Terfs)duplicationPathogenicrs863224510GRCh37Chr 17, 41245505: 41245505
256BRCA1NM_ 007294.3(BRCA1): c.4186-?_ 5193+?deldeletionPathogenic
257BRCA1NM_ 007294.3(BRCA1): c.4358-?_ 4484+?deldeletionPathogenicGRCh37Chr 17, 41228505: 41228631
258BRCA1NM_ 007294.3(BRCA1): c.4474G> T (p.Gly1492Ter)SNVPathogenicrs863224511GRCh38Chr 17, 43076498: 43076498
259BRCA1NM_ 007294.3(BRCA1): c.4676-?_ 5074+?deldeletionPathogenicGRCh37Chr 17, 41219625: 41223255
260BRCA1NM_ 007294.3(BRCA1): c.490delA (p.Thr164Leufs)deletionPathogenicrs863224512GRCh37Chr 17, 41251849: 41251849
261BRCA1NM_ 007294.3(BRCA1): c.4709dupT (p.Phe1571Leufs)duplicationPathogenicrs864622132GRCh38Chr 17, 43071205: 43071205
262BRCA1NM_ 007294.3(BRCA1): c.5525delT (p.Val1842Glufs)deletionPathogenicrs864622220GRCh37Chr 17, 41197762: 41197762
263BRCA1NM_ 007294.3(BRCA1): c.548-?_ 4185+?deldeletionPathogenicGRCh37Chr 17, 41242961: 41249306
264BRCA1NM_ 007294.3(BRCA1): c.531dupT (p.Val178Cysfs)duplicationPathogenicrs864622350GRCh37Chr 17, 41251808: 41251808
265BRCA1NM_ 007294.3(BRCA1): c.135-?_ 441+?dupduplicationPathogenic/ Likely pathogenic
266BRCA1NM_ 007294.3(BRCA1): c.2378dupA (p.Ala794Glyfs)duplicationPathogenicrs864622536GRCh37Chr 17, 41245170: 41245170
267BRCA1NM_ 007294.3(BRCA1): c.4647_ 4648dupAA (p.Thr1550Lysfs)duplicationPathogenicrs869025213GRCh38Chr 17, 43074358: 43074359
268BRCA1NM_ 007294.3(BRCA1): c.213-2A> GSNVPathogenicrs397508940GRCh37Chr 17, 41256975: 41256975
269BRCA1NM_ 007294.3(BRCA1): c.192T> G (p.Cys64Trp)SNVPathogenic/ Likely pathogenicrs587781632GRCh37Chr 17, 41258493: 41258493
270BRCA2NM_ 000059.3(BRCA2): c.3689_ 3690delCT (p.Ser1230Tyrfs)deletionPathogenicrs869312759GRCh37Chr 13, 32912181: 32912182
271BRCA2NM_ 000059.3(BRCA2): c.8419_ 8428delTCGCTTTTCA (p.Ser2807Valfs)deletionPathogenicrs869312760GRCh38Chr 13, 32370489: 32370498
272BRCA1NM_ 007294.3(BRCA1): c.81-?_ 134+?deldeletionPathogenicGRCh37Chr 17, 41267743: 41267796
273BRCA1NM_ 007294.3(BRCA1): c.3629dupA (p.Ser1211Valfs)duplicationPathogenicrs886040154GRCh37Chr 17, 41243919: 41243919
274BRCA1NM_ 007294.3(BRCA1): c.1600delC (p.Gln534Argfs)deletionPathogenicrs869320776GRCh38Chr 17, 43093931: 43093931
275BRCA1NM_ 007294.3(BRCA1): c.886delA (p.Arg296Glufs)deletionPathogenicrs869320786GRCh37Chr 17, 41246662: 41246662
276BRCA1NM_ 007294.3(BRCA1): c.2719G> T (p.Glu907Ter)SNVPathogenicrs876658593GRCh37Chr 17, 41244829: 41244829
277BRCA1NM_ 007294.3(BRCA1): c.5135G> A (p.Trp1712Ter)SNVPathogenicrs876658672GRCh37Chr 17, 41215908: 41215908
278BRCA1NM_ 007294.3(BRCA1): c.1505_ 1509delTAAAG (p.Leu502Serfs)deletionPathogenicrs876659139GRCh37Chr 17, 41246039: 41246043
279BRCA1NM_ 007294.3(BRCA1): c.442C> T (p.Gln148Ter)SNVPathogenic/ Likely pathogenicrs876659614GRCh37Chr 17, 41251897: 41251897
280BRCA1NM_ 007294.3(BRCA1): c.3289dupA (p.Ser1097Lysfs)duplicationPathogenicrs876660194GRCh37Chr 17, 41244259: 41244259
281BRCA1NM_ 007294.3(BRCA1): c.2386_ 2387delACinsT (p.Thr796Terfs)indelPathogenicrs876660305GRCh37Chr 17, 41245161: 41245162
282BRCA1NM_ 007294.3(BRCA1): c.1155G> A (p.Trp385Ter)SNVPathogenicrs876660558GRCh37Chr 17, 41246393: 41246393
283BRCA1NM_ 007294.3(BRCA1): c.441+2T> GSNVPathogenicrs397509173GRCh37Chr 17, 41256137: 41256137
284BRCA1NM_ 007294.3(BRCA1): c.5278-2deldeletionPathogenicrs878853285GRCh38Chr 17, 43051119: 43051119
285BRCA1NM_ 007294.3(BRCA1): c.5331_ 5332+1delinsCAACATindelPathogenicrs878853286GRCh38Chr 17, 43051062: 43051064
286BRCA1NM_ 007294.3(BRCA1): c.1150G> T (p.Glu384Ter)SNVPathogenicrs878853288GRCh37Chr 17, 41246398: 41246398
287BRCA1NM_ 007294.3(BRCA1): c.1881_ 1882insCC (p.Ser628Profs)insertionPathogenicrs878853289GRCh37Chr 17, 41245666: 41245667
288BRCA1NM_ 007294.3(BRCA1): c.2562_ 2563insGC (p.Gln855Alafs)insertionPathogenicrs878853290GRCh37Chr 17, 41244985: 41244986
289BRCA1NM_ 007294.3(BRCA1): c.2805dupA (p.Asp936Argfs)duplicationPathogenicrs878853291GRCh38Chr 17, 43092726: 43092726
290BRCA1NM_ 007294.3(BRCA1): c.2933dupA (p.Tyr978Terfs)duplicationPathogenicrs878853292GRCh38Chr 17, 43092598: 43092598
291BRCA1NM_ 007294.3(BRCA1): c.4570delT (p.Ser1524Leufs)deletionPathogenicrs878853293GRCh37Chr 17, 41226453: 41226453
292BRCA1NM_ 007294.3(BRCA1): c.4576G> T (p.Glu1526Ter)SNVPathogenicrs878853294GRCh38Chr 17, 43074430: 43074430
293BRCA1NM_ 007294.3(BRCA1): c.5181_ 5182delAA (p.Lys1727Asnfs)deletionPathogenicrs878853295GRCh38Chr 17, 43063344: 43063345
294BRCA1NM_ 007294.3(BRCA1): c.5496_ 5499delGGTG (p.Val1833Profs)deletionPathogenicrs878853296GRCh38Chr 17, 43045771: 43045774
295BRCA1NM_ 007294.3(BRCA1): c.64_ 65dupTT (p.Leu22Phefs)duplicationPathogenicrs80357642GRCh37Chr 17, 41276049: 41276050
296BRCA1NM_ 007294.3(BRCA1): c.1601_ 1602delAG (p.Gln534Argfs)deletionPathogenicrs878854933GRCh38Chr 17, 43093929: 43093930
297BRCA1NM_ 007294.3(BRCA1): c.4484G> C (p.Arg1495Thr)SNVPathogenicrs80357389GRCh37Chr 17, 41228505: 41228505
298BRCA1NM_ 007294.3(BRCA1): c.3675C> A (p.Cys1225Ter)SNVPathogenicrs879254023GRCh37Chr 17, 41243873: 41243873
299BRCA1NM_ 007294.3(BRCA1): c.4485-1G> TSNVPathogenicrs80358189GRCh38Chr 17, 43074522: 43074522
300BRCA1NM_ 007294.3(BRCA1): c.2418delA (p.Ala807Hisfs)deletionPathogenicrs879255281GRCh37Chr 17, 41245130: 41245130
301BRCA1NM_ 007294.3(BRCA1): c.4389_ 4392dupCCCT (p.Ile1465Profs)duplicationPathogenicrs879255282GRCh37Chr 17, 41228597: 41228600
302BRCA1NM_ 007294.3(BRCA1): c.5075-2A> GSNVPathogenicrs80358066GRCh38Chr 17, 43063953: 43063953
303BRCA1NM_ 007294.3(BRCA1): c.2331_ 2332dupTG (p.Gly778Valfs)duplicationPathogenicrs431825390GRCh38Chr 17, 43093199: 43093200
304BRCA1NM_ 007294.3(BRCA1): c.5050_ 5051delAC (p.Thr1684Tyrfs)deletionPathogenicrs879255283GRCh37Chr 17, 41219648: 41219649
305BRCA1NM_ 007294.3(BRCA1): c.4675+2T> GSNVLikely pathogenicrs879255293GRCh38Chr 17, 43074329: 43074329
306BRCA1NM_ 007294.3(BRCA1): c.715delC (p.His239Ilefs)deletionLikely pathogenicrs879255294GRCh37Chr 17, 41246833: 41246833
307BRCA1NM_ 007294.3(BRCA1): c.4976delC (p.Pro1659Glnfs)deletionPathogenicrs879255295GRCh38Chr 17, 43070938: 43070938
308BRCA1NM_ 007294.3(BRCA1): c.346delG (p.Glu116Asnfs)deletionPathogenicrs762635795GRCh38Chr 17, 43104217: 43104217
309BRCA1NM_ 007294.3(BRCA1): c.1407_ 1408delAA (p.Ser470Profs)deletionPathogenicrs879255476GRCh37Chr 17, 41246140: 41246141
310BRCA1NM_ 007294.3(BRCA1): c.1575dupT (p.Gln526Serfs)duplicationPathogenicrs879255478GRCh37Chr 17, 41245973: 41245973
311BRCA1NM_ 007294.3(BRCA1): c.1759_ 1762delATAA (p.Ile587Alafs)deletionPathogenicrs879255479GRCh37Chr 17, 41245786: 41245789
312BRCA1NM_ 007294.3(BRCA1): c.1949_ 1950insCA (p.Lys652Argfs)insertionPathogenicrs879255480GRCh37Chr 17, 41245598: 41245599
313BRCA1NM_ 007294.3(BRCA1): c.2719delG (p.Glu907Lysfs)deletionPathogenicrs879255481GRCh37Chr 17, 41244829: 41244829
314BRCA1NM_ 007294.3(BRCA1): c.3257delT (p.Leu1086Terfs)deletionPathogenicrs879255483GRCh37Chr 17, 41244291: 41244291
315BRCA1NM_ 007294.3(BRCA1): c.403A> T (p.Lys135Ter)SNVPathogenicrs879255485GRCh37Chr 17, 41256177: 41256177
316BRCA1NG_ 005905.2: g.141479_ 141480ins5insertionPathogenicrs879255489GRCh38Chr 17, 43076504: 43076505
317BRCA1NM_ 007294.3(BRCA1): c.4888_ 4889delGA (p.Glu1630Lysfs)deletionPathogenicrs879255490GRCh37Chr 17, 41223042: 41223043
318BRCA1NM_ 007294.3(BRCA1): c.628C> T (p.Gln210Ter)SNVPathogenicrs879255495GRCh38Chr 17, 43095888: 43095888
319BRCA1NM_ 007294.3(BRCA1): c.77T> A (p.Ile26Asn)SNVPathogenicrs879255496GRCh38Chr 17, 43124020: 43124020
320BRCA1NP_ 009225.1(BRCA1): p.Ser864Terprotein onlyPathogenic
321BRCA1NP_ 009225.1(BRCA1): p.Ser955Terprotein onlyPathogenic
322BRCA1NM_ 007294.3(BRCA1): c.4485-?_ 4675+?deldeletionPathogenic
323BRCA1NM_ 007294.3(BRCA1): c.81-?_ 4986+?deldeletionPathogenicGRCh37Chr 17, 41222945: 41267796
324BRCA1NM_ 007294.3(BRCA1): c.442-?_ 593+?deldeletionPathogenicGRCh37Chr 17, 41249261: 41251897
325BRCA1NM_ 007294.3(BRCA1): c.442-?_ 4357+?deldeletionPathogenicGRCh37Chr 17, 41234421: 41251897
326BRCA1NM_ 007294.3(BRCA1): c.5333-?_ 5406+?deldeletionPathogenic
327BRCA1NM_ 007294.3(BRCA1): c.5075-?_ 5277+?dup203duplicationPathogenic/ Likely pathogenicGRCh37Chr 17, 41209069: 41215968
328BRCA1NM_ 007294.3(BRCA1): c.442-?_ 547+?deldeletionPathogenicGRCh37Chr 17, 41251792: 41251897
329BRCA1NM_ 007294.3(BRCA1): c.-19-?_ 80+?deldeletionPathogenicGRCh37Chr 17, 41276034: 41276132
330BRCA1NM_ 007294.3(BRCA1): c.51delT (p.Met18Cysfs)deletionPathogenicrs886037967GRCh37Chr 17, 41276063: 41276063
331BRCA1NM_ 007294.3(BRCA1): c.65delT (p.Leu22Terfs)deletionPathogenicrs80357803GRCh37Chr 17, 41276049: 41276049
332BRCA1NM_ 007294.3(BRCA1): c.74_ 75delCC (p.Pro25Hisfs)deletionPathogenicrs80357633GRCh38Chr 17, 43124022: 43124023
333BRCA1NM_ 007294.3(BRCA1): c.165_ 166dupGA (p.Lys56Argfs)duplicationPathogenicrs80357550GRCh37Chr 17, 41258519: 41258520
334BRCA1NM_ 007294.3(BRCA1): c.205dupA (p.Thr69Asnfs)duplicationPathogenicrs273898673GRCh37Chr 17, 41258480: 41258480
335BRCA1NM_ 007294.3(BRCA1): c.211delA (p.Arg71Glyfs)deletionPathogenicrs886037971GRCh38Chr 17, 43106457: 43106457
336BRCA1NM_ 007294.3(BRCA1): c.280C> T (p.Gln94Ter)SNVPathogenicrs886037972GRCh37Chr 17, 41256906: 41256906
337BRCA1NM_ 007294.3(BRCA1): c.390C> G (p.Tyr130Ter)SNVPathogenicrs80356888GRCh38Chr 17, 43104173: 43104173
338BRCA1NM_ 007294.3(BRCA1): c.397delC (p.Arg133Valfs)deletionPathogenicrs886037973GRCh37Chr 17, 41256183: 41256183
339BRCA1NM_ 007294.3(BRCA1): c.464_ 465delAA (p.Gln155Profs)deletionPathogenicrs886037974GRCh38Chr 17, 43099857: 43099858
340BRCA1NM_ 007294.3(BRCA1): c.465delA (p.Gln155Hisfs)deletionPathogenicrs483353104GRCh37Chr 17, 41251874: 41251874
341BRCA1NM_ 007294.3(BRCA1): c.475delC (p.Gly160Glufs)deletionPathogenicrs886037976GRCh37Chr 17, 41251864: 41251864
342BRCA1NM_ 007294.3(BRCA1): c.737T> A (p.Leu246Ter)SNVPathogenicrs886037977GRCh37Chr 17, 41246811: 41246811
343BRCA1NM_ 007294.3(BRCA1): c.745_ 746delAC (p.Thr249Terfs)deletionPathogenicrs886037978GRCh37Chr 17, 41246802: 41246803
344BRCA1NM_ 007294.3(BRCA1): c.784C> T (p.Gln262Ter)SNVPathogenicrs886037979GRCh37Chr 17, 41246764: 41246764
345BRCA1NM_ 007294.3(BRCA1): c.841_ 842dupAG (p.Ser281Argfs)duplicationPathogenicrs80357792GRCh38Chr 17, 43094689: 43094690
346BRCA1NM_ 007294.3(BRCA1): c.856G> T (p.Glu286Ter)SNVPathogenicrs886037980GRCh38Chr 17, 43094675: 43094675
347BRCA1NM_ 007294.3(BRCA1): c.875delT (p.Leu292Profs)deletionPathogenicrs886037981GRCh38Chr 17, 43094656: 43094656
348BRCA1NM_ 007294.3(BRCA1): c.897delA (p.Glu300Lysfs)deletionPathogenicrs886037982GRCh37Chr 17, 41246651: 41246651
349BRCA1NM_ 007294.3(BRCA1): c.954_ 955insGT (p.Asn319Valfs)insertionPathogenicrs80357690GRCh38Chr 17, 43094576: 43094577
350BRCA1NM_ 007294.3(BRCA1): c.1018dupG (p.Val340Glyfs)duplicationPathogenicrs886037984GRCh38Chr 17, 43094513: 43094513
351BRCA1NM_ 007294.3(BRCA1): c.1039delC (p.Leu347Cysfs)deletionPathogenicrs749508254GRCh38Chr 17, 43094492: 43094492
352BRCA1NM_ 007294.3(BRCA1): c.1044T> A (p.Cys348Ter)SNVPathogenicrs886037985GRCh37Chr 17, 41246504: 41246504
353BRCA1NM_ 007294.3(BRCA1): c.1080C> A (p.Cys360Ter)SNVPathogenicrs886037986GRCh37Chr 17, 41246468: 41246468
354BRCA1NM_ 007294.3(BRCA1): c.1105dupG (p.Asp369Glyfs)duplicationPathogenicrs876659396GRCh37Chr 17, 41246443: 41246443
355BRCA1NM_ 007294.3(BRCA1): c.1123delC (p.Leu375Terfs)deletionPathogenicrs886037987GRCh37Chr 17, 41246425: 41246425
356BRCA1NM_ 007294.3(BRCA1): c.1190delA (p.Asp397Alafs)deletionPathogenicrs748714307GRCh37Chr 17, 41246358: 41246358
357BRCA1NM_ 007294.3(BRCA1): c.1257delA (p.Asp420Metfs)deletionPathogenicrs886037988GRCh37Chr 17, 41246291: 41246291
358BRCA1NM_ 007294.3(BRCA1): c.1501_ 1504delAAAT (p.Lys501Terfs)deletionPathogenicrs80357632GRCh37Chr 17, 41246044: 41246047
359BRCA1NM_ 007294.3(BRCA1): c.1543G> T (p.Glu515Ter)SNVPathogenicrs886037990GRCh37Chr 17, 41246005: 41246005
360BRCA1NM_ 007294.3(BRCA1): c.1650dupT (p.Ser551Terfs)duplicationPathogenicrs753524038GRCh37Chr 17, 41245898: 41245898
361BRCA1NM_ 007294.3(BRCA1): c.1733_ 1734delCT (p.Ser578Cysfs)deletionPathogenicrs886037991GRCh37Chr 17, 41245814: 41245815
362BRCA1NM_ 007294.3(BRCA1): c.1826delA (p.Asn609Ilefs)deletionPathogenicrs80357736GRCh37Chr 17, 41245722: 41245722
363BRCA1NM_ 007294.3(BRCA1): c.1839_ 1840delGA (p.Lys614Valfs)deletionPathogenicrs752474843GRCh37Chr 17, 41245708: 41245709
364BRCA1NM_ 007294.3(BRCA1): c.1842_ 1843dupGT (p.Ser615Cysfs)duplicationPathogenicrs767595162GRCh37Chr 17, 41245705: 41245706
365BRCA1NM_ 007294.3(BRCA1): c.1961_ 1962delAG (p.Lys654Ilefs)deletionPathogenicrs886037993GRCh37Chr 17, 41245586: 41245587
366BRCA1NM_ 007294.3(BRCA1): c.1977_ 1978delAG (p.Val660Glnfs)deletionPathogenicrs773413634GRCh37Chr 17, 41245570: 41245571
367BRCA1NM_ 007294.3(BRCA1): c.2066_ 2069delGTAA (p.Ser689Lysfs)deletionPathogenicrs886037994GRCh37Chr 17, 41245479: 41245482
368BRCA1NM_ 007294.3(BRCA1): c.2074_ 2075delCA (p.His692Terfs)deletionPathogenicrs886037995GRCh37Chr 17, 41245473: 41245474
369BRCA1NM_ 007294.3(BRCA1): c.2095G> T (p.Glu699Ter)SNVPathogenicrs876658306GRCh37Chr 17, 41245453: 41245453
370BRCA1NM_ 007294.3(BRCA1): c.2138C> A (p.Ser713Ter)SNVPathogenicrs80357233GRCh37Chr 17, 41245410: 41245410
371BRCA1NM_ 007294.3(BRCA1): c.2145delC (p.Ser716Valfs)deletionPathogenicrs886037996GRCh37Chr 17, 41245403: 41245403
372BRCA1NM_ 007294.3(BRCA1): c.2242_ 2251delAAAGATCTCA (p.Lys748Cysfs)deletionPathogenicrs886037997GRCh38Chr 17, 43093280: 43093289
373BRCA1NM_ 007294.3(BRCA1): c.2255_ 2256dupTA (p.Ser753Terfs)duplicationPathogenicrs80357557GRCh37Chr 17, 41245292: 41245293
374BRCA1NM_ 007294.3(BRCA1): c.2246_ 2280del35 (p.Asp749Glyfs)deletionPathogenicrs886037998GRCh37Chr 17, 41245268: 41245302
375BRCA1NM_ 007294.3(BRCA1): c.2380dupG (p.Ala794Glyfs)duplicationPathogenicrs886037999GRCh38Chr 17, 43093151: 43093151
376BRCA1NM_ 007294.3(BRCA1): c.2409delT (p.Gln804Serfs)deletionPathogenicrs770460699GRCh37Chr 17, 41245139: 41245139
377BRCA1NM_ 007294.3(BRCA1): c.2445_ 2448delTCAT (p.Ile815Metfs)deletionPathogenicrs886038000GRCh37Chr 17, 41245100: 41245103
378BRCA1NM_ 007294.3(BRCA1): c.2599C> T (p.Gln867Ter)SNVPathogenicrs886038001GRCh37Chr 17, 41244949: 41244949
379BRCA1NM_ 007294.3(BRCA1): c.2601_ 2604dupGTCA (p.Phe869Valfs)duplicationPathogenicrs80357603GRCh37Chr 17, 41244944: 41244947
380BRCA1NM_ 007294.3(BRCA1): c.2630delA (p.Asn877Metfs)deletionPathogenicrs886038002GRCh38Chr 17, 43092901: 43092901
381BRCA1NM_ 007294.3(BRCA1): c.2649_ 2650insGGCA (p.Thr884Glyfs)insertionPathogenicrs886038003GRCh37Chr 17, 41244898: 41244899
382BRCA1NM_ 007294.3(BRCA1): c.2689_ 2690insAC (p.Pro897Hisfs)insertionPathogenicrs397508999GRCh37Chr 17, 41244858: 41244859
383BRCA1NM_ 007294.3(BRCA1): c.2806_ 2807delGA (p.Asp936Terfs)deletionPathogenicrs886038004GRCh37Chr 17, 41244741: 41244742
384BRCA1NM_ 007294.3(BRCA1): c.2898delT (p.Thr967Leufs)deletionPathogenicrs886038005GRCh37Chr 17, 41244650: 41244650
385BRCA1NM_ 007294.3(BRCA1): c.2927delA (p.Asn976Thrfs)deletionPathogenicrs886038006GRCh37Chr 17, 41244621: 41244621
386BRCA1NM_ 007294.3(BRCA1): c.3001G> T (p.Glu1001Ter)SNVPathogenicrs886038007GRCh37Chr 17, 41244547: 41244547
387BRCA1NM_ 007294.3(BRCA1): c.3015delA (p.Glu1005Aspfs)deletionPathogenicrs886038008GRCh37Chr 17, 41244533: 41244533
388BRCA1NM_ 007294.3(BRCA1): c.3226A> T (p.Arg1076Ter)SNVPathogenicrs886038009GRCh37Chr 17, 41244322: 41244322
389BRCA1NM_ 007294.3(BRCA1): c.3279_ 3280delCT (p.Tyr1094Terfs)deletionPathogenicrs886038010GRCh37Chr 17, 41244268: 41244269
390BRCA1NM_ 007294.3(BRCA1): c.3330delG (p.Lys1110Asnfs)deletionPathogenicrs886038011GRCh37Chr 17, 41244218: 41244218
391BRCA1NM_ 007294.3(BRCA1): c.3442G> T (p.Glu1148Ter)SNVPathogenicrs886038012GRCh38Chr 17, 43092089: 43092089
392BRCA1NM_ 007294.3(BRCA1): c.3459_ 3460delGT (p.Leu1154Argfs)deletionPathogenicrs886038013GRCh37Chr 17, 41244088: 41244089
393BRCA1NM_ 007294.3(BRCA1): c.3458_ 3462delTGTTA (p.Leu1153Argfs)deletionPathogenicrs886038014GRCh38Chr 17, 43092069: 43092073
394BRCA1NM_ 007294.3(BRCA1): c.3496delG (p.Ala1166Leufs)deletionPathogenicrs886038015GRCh37Chr 17, 41244052: 41244052
395BRCA1NM_ 007294.3(BRCA1): c.3531dupT (p.Ser1178Terfs)duplicationPathogenicrs761143251GRCh38Chr 17, 43092000: 43092000
396BRCA1NM_ 007294.3(BRCA1): c.3541delG (p.Val1181Serfs)deletionPathogenicrs886038016GRCh37Chr 17, 41244007: 41244007
397BRCA1NM_ 007294.3(BRCA1): c.3547_ 3550delAAAGinsGAT (p.Lys1183Aspfs)indelPathogenicrs886038017GRCh37Chr 17, 41243998: 41244001
398BRCA1NM_ 007294.3(BRCA1): c.3570delT (p.Ser1191Alafs)deletionPathogenicrs886038018GRCh37Chr 17, 41243978: 41243978
399BRCA1NM_ 007294.3(BRCA1): c.3592_ 3593dupTT (p.Leu1198Phefs)duplicationPathogenicrs80357562GRCh37Chr 17, 41243955: 41243956
400BRCA1NM_ 007294.3(BRCA1): c.3616delG (p.Ala1206Profs)deletionPathogenicrs886038019GRCh37Chr 17, 41243932: 41243932
401BRCA1NM_ 007294.3(BRCA1): c.3624delA (p.Lys1208Asnfs)deletionPathogenicrs886038020GRCh37Chr 17, 41243924: 41243924
402BRCA1NM_ 007294.3(BRCA1): c.3635C> G (p.Ser1212Ter)SNVPathogenicrs886038021GRCh38Chr 17, 43091896: 43091896
403BRCA1NM_ 007294.3(BRCA1): c.3695delG (p.Gly1232Valfs)deletionPathogenicrs886038022GRCh37Chr 17, 41243853: 41243853
404BRCA1NM_ 007294.3(BRCA1): c.3697A> T (p.Lys1233Ter)SNVPathogenicrs774679104GRCh37Chr 17, 41243851: 41243851
405BRCA1NM_ 007294.3(BRCA1): c.3710_ 3711dupTA (p.Pro1238Tyrfs)duplicationPathogenicrs777371832GRCh37Chr 17, 41243837: 41243838
406BRCA1NM_ 007294.3(BRCA1): c.3714_ 3747del34 (p.Gln1240Valfs)deletionPathogenicrs886038023GRCh37Chr 17, 41243801: 41243834
407BRCA1NM_ 007294.3(BRCA1): c.3770_ 3777delAGGAGAAT (p.Glu1257Valfs)deletionPathogenicrs886038024GRCh37Chr 17, 41243771: 41243778
408BRCA1NM_ 007294.3(BRCA1): c.3779T> G (p.Leu1260Ter)SNVPathogenicrs886038025GRCh37Chr 17, 41243769: 41243769
409BRCA1NM_ 007294.3(BRCA1): c.3853delC (p.Ser1286Valfs)deletionPathogenicrs397507222GRCh37Chr 17, 41243695: 41243695
410BRCA1NM_ 007294.3(BRCA1): c.3889delT (p.Ser1297Leufs)deletionPathogenicrs886038027GRCh38Chr 17, 43091642: 43091642
411BRCA1NM_ 007294.3(BRCA1): c.3910G> T (p.Glu1304Ter)SNVPathogenicrs886038028GRCh37Chr 17, 41243638: 41243638
412BRCA1NM_ 007294.3(BRCA1): c.3999_ 4008delTGGTCTGAGT (p.Gly1334Thrfs)deletionPathogenicrs754792932GRCh37Chr 17, 41243540: 41243549
413BRCA1NM_ 007294.3(BRCA1): c.4013delA (p.Lys1338Argfs)deletionPathogenicrs886038029GRCh37Chr 17, 41243535: 41243535
414BRCA1NM_ 007294.3(BRCA1): c.4015dupG (p.Glu1339Glyfs)duplicationPathogenicrs886038030GRCh38Chr 17, 43091516: 43091516
415BRCA1NM_ 007294.3(BRCA1): c.4038_ 4039delAA (p.Gly1348Asnfs)deletionPathogenicrs273900721GRCh37Chr 17, 41243509: 41243510
416BRCA1NM_ 007294.3(BRCA1): c.4088C> G (p.Ser1363Ter)SNVPathogenicrs398122680GRCh38Chr 17, 43091443: 43091443
417BRCA1NM_ 007294.3(BRCA1): c.4139_ 4140delAA (p.Glu1380Glyfs)deletionPathogenicrs886038032GRCh38Chr 17, 43090989: 43090990
418BRCA1NM_ 007294.3(BRCA1): c.4193_ 4194insGG (p.Asp1398Glufs)insertionPathogenicrs886038033GRCh37Chr 17, 41234584: 41234585
419BRCA1NM_ 007294.3(BRCA1): c.4483delA (p.Arg1495Glyfs)deletionPathogenicrs886038034GRCh37Chr 17, 41228506: 41228506
420BRCA1NM_ 007294.3(BRCA1): c.4609_ 4610insCC (p.Gln1537Profs)insertionPathogenicrs886038035GRCh37Chr 17, 41226413: 41226414
421BRCA1NM_ 007294.3(BRCA1): c.4806delT (p.Gln1604Asnfs)deletionPathogenicrs886038036GRCh38Chr 17, 43071108: 43071108
422BRCA1NM_ 007294.3(BRCA1): c.4895_ 4896delTG (p.Val1632Glufs)deletionPathogenicrs886038037GRCh37Chr 17, 41223035: 41223036
423BRCA1NM_ 007294.3(BRCA1): c.4932_ 4933dupAA (p.Arg1645Lysfs)duplicationPathogenicrs80357833GRCh37Chr 17, 41222998: 41222999
424BRCA1NM_ 007294.3(BRCA1): c.4969delC (p.Leu1657Terfs)deletionPathogenicrs886038038GRCh38Chr 17, 43070945: 43070945
425BRCA1NM_ 007294.3(BRCA1): c.5027_ 5031delTAACT (p.Leu1676Terfs)deletionPathogenicrs431825410GRCh38Chr 17, 43067651: 43067655
426BRCA1NM_ 007294.3(BRCA1): c.5123delC (p.Ala1708Glyfs)deletionPathogenicrs886038040GRCh37Chr 17, 41215920: 41215920
427BRCA1NM_ 007294.3(BRCA1): c.5133dupA (p.Trp1712Metfs)duplicationPathogenicrs886038041GRCh37Chr 17, 41215910: 41215910
428BRCA1NM_ 007294.3(BRCA1): c.5234dupA (p.Asn1745Lysfs)duplicationPathogenicrs886038042GRCh38Chr 17, 43057095: 43057095
429BRCA1NM_ 007294.3(BRCA1): c.5268_ 5274delGGACAGA (p.Asp1757Argfs)deletionPathogenicrs886038043GRCh38Chr 17, 43057055: 43057061
430BRCA1NM_ 007294.3(BRCA1): c.5276delA (p.Lys1759Argfs)deletionPathogenicrs80357732GRCh37Chr 17, 41209070: 41209070
431BRCA1NM_ 007294.3(BRCA1): c.5338delC (p.Leu1780Trpfs)deletionPathogenicrs886038045GRCh38Chr 17, 43049189: 43049189
432BRCA1NM_ 007294.3(BRCA1): c.5366delC (p.Ala1789Valfs)deletionPathogenicrs760188581GRCh38Chr 17, 43049161: 43049161
433BRCA1NM_ 007294.3(BRCA1): c.5391delA (p.Phe1798Serfs)deletionPathogenicrs774988515GRCh38Chr 17, 43049136: 43049136
434BRCA1NM_ 007294.3(BRCA1): c.5484_ 5485delTG (p.Cys1828Terfs)deletionPathogenicrs886038046GRCh37Chr 17, 41197802: 41197803
435BRCA1NM_ 007294.3(BRCA1): c.5485dupG (p.Glu1829Glyfs)duplicationPathogenicrs768401297GRCh38Chr 17, 43045785: 43045785
436BRCA1NM_ 007294.3(BRCA1): c.213-5T> ASNVLikely pathogenicrs886038196GRCh38Chr 17, 43104961: 43104961
437BRCA1NM_ 007294.3(BRCA1): c.101_ 105delCTGTC (p.Pro34Leufs)deletionPathogenicrs886039920GRCh37Chr 17, 41267772: 41267776
438BRCA1NM_ 007294.3(BRCA1): c.1016_ 1017insC (p.Lys339Asnfs)insertionPathogenicrs80357569GRCh37Chr 17, 41246531: 41246532
439BRCA1NM_ 007294.3(BRCA1): c.1017_ 1018insA (p.Val340Serfs)insertionPathogenicrs886039921GRCh38Chr 17, 43094513: 43094514
440BRCA1NM_ 007294.3(BRCA1): c.102delT (p.Val35Serfs)deletionPathogenicrs886039922GRCh37Chr 17, 41267775: 41267775
441BRCA1NM_ 007294.3(BRCA1): c.1044_ 1045insTCAC (p.Glu349Serfs)insertionPathogenicrs886039923GRCh38Chr 17, 43094486: 43094487
442BRCA1NM_ 007294.3(BRCA1): c.1044_ 1047delTGAG (p.Cys348Terfs)deletionPathogenicrs886039924GRCh38Chr 17, 43094484: 43094487
443BRCA1NM_ 007294.3(BRCA1): c.1049_ 1050delGA (p.Arg350Lysfs)deletionPathogenicrs886039925GRCh38Chr 17, 43094481: 43094482
444BRCA1NM_ 007294.3(BRCA1): c.1054delG (p.Glu352Asnfs)deletionPathogenicrs886039926GRCh38Chr 17, 43094477: 43094477
445BRCA1NM_ 007294.3(BRCA1): c.1104delA (p.Asp369Metfs)deletionPathogenicrs886039927GRCh38Chr 17, 43094427: 43094427
446BRCA1NM_ 007294.3(BRCA1): c.1125_ 1132delAAATAGCA (p.Asn376Hisfs)deletionPathogenicrs886039928GRCh37Chr 17, 41246416: 41246423
447BRCA1NM_ 007294.3(BRCA1): c.1140delG (p.Val382Leufs)deletionPathogenicrs886039929GRCh38Chr 17, 43094391: 43094391
448BRCA1NM_ 007294.3(BRCA1): c.1171G> T (p.Glu391Ter)SNVPathogenicrs562553169GRCh38Chr 17, 43094360: 43094360
449BRCA1NM_ 007294.3(BRCA1): c.1174delC (p.Leu392Cysfs)deletionPathogenicrs886039930GRCh37Chr 17, 41246374: 41246374
450BRCA1NM_ 007294.3(BRCA1): c.1179_ 1180insT (p.Gly394Trpfs)insertionPathogenicrs886039931GRCh37Chr 17, 41246368: 41246369
451BRCA1NM_ 007294.3(BRCA1): c.1209_ 1210delTG (p.Glu404Ilefs)deletionPathogenicrs886039932GRCh38Chr 17, 43094321: 43094322
452BRCA1NM_ 007294.3(BRCA1): c.1209dupT (p.Glu404Terfs)duplicationPathogenicrs886039933GRCh37Chr 17, 41246339: 41246339
453BRCA1NM_ 007294.3(BRCA1): c.1210_ 1211insCT (p.Glu404Alafs)insertionPathogenicrs886039934GRCh37Chr 17, 41246337: 41246338
454BRCA1NM_ 007294.3(BRCA1): c.1222A> T (p.Lys408Ter)SNVPathogenicrs80357253GRCh38Chr 17, 43094309: 43094309
455BRCA1NM_ 007294.3(BRCA1): c.1227_ 1230dupAGCT (p.Asp411Serfs)duplicationPathogenicrs886039935GRCh38Chr 17, 43094301: 43094304
456BRCA1NM_ 007294.3(BRCA1): c.1252dupG (p.Glu418Glyfs)duplicationPathogenicrs886039936GRCh37Chr 17, 41246296: 41246296
457BRCA1NM_ 007294.3(BRCA1): c.1253delA (p.Glu418Glyfs)deletionPathogenicrs886039937GRCh37Chr 17, 41246295: 41246295
458BRCA1NM_ 007294.3(BRCA1): c.1261G> T (p.Glu421Ter)SNVPathogenicrs80357046GRCh37Chr 17, 41246287: 41246287
459BRCA1NM_ 007294.3(BRCA1): c.1273dupT (p.Ser425Phefs)duplicationPathogenicrs886039938GRCh38Chr 17, 43094258: 43094258
460BRCA1NM_ 007294.3(BRCA1): c.1277C> A (p.Ser426Ter)SNVPathogenicrs886039939GRCh37Chr 17, 41246271: 41246271
461BRCA1NM_ 007294.3(BRCA1): c.1277C> G (p.Ser426Ter)SNVPathogenicrs886039939GRCh37Chr 17, 41246271: 41246271
462BRCA1NM_ 007294.3(BRCA1): c.1288dupG (p.Asp430Glyfs)duplicationPathogenicrs886039940GRCh38Chr 17, 43094243: 43094243
463BRCA1NM_ 007294.3(BRCA1): c.1303_ 1309delGATCCTCinsAAAGT (p.Asp435Lysfs)indelPathogenicrs886039941GRCh37Chr 17, 41246239: 41246245
464BRCA1NM_ 007294.3(BRCA1): c.1327_ 1345del19 (p.Lys443Profs)deletionPathogenicrs886039942GRCh37Chr 17, 41246203: 41246221
465BRCA1NM_ 007294.3(BRCA1): c.1333delG (p.Glu445Lysfs)deletionPathogenicrs886039943GRCh38Chr 17, 43094198: 43094198
466BRCA1NM_ 007294.3(BRCA1): c.1336delA (p.Arg446Glufs)deletionPathogenicrs886039944GRCh37Chr 17, 41246212: 41246212
467BRCA1NM_ 007294.3(BRCA1): c.1347delC (p.Lys450Asnfs)deletionPathogenicrs886039945GRCh37Chr 17, 41246201: 41246201
468BRCA1NM_ 007294.3(BRCA1): c.1354delG (p.Val452Terfs)deletionPathogenicrs886039946GRCh38Chr 17, 43094177: 43094177
469BRCA1NM_ 007294.3(BRCA1): c.1375A> T (p.Lys459Ter)SNVPathogenicrs886039947GRCh37Chr 17, 41246173: 41246173
470BRCA1NM_ 007294.3(BRCA1): c.1378dupA (p.Ile460Asnfs)duplicationPathogenicrs886039948GRCh37Chr 17, 41246170: 41246170
471BRCA1NM_ 007294.3(BRCA1): c.1379delT (p.Ile460Asnfs)deletionPathogenicrs886039949GRCh37Chr 17, 41246169: 41246169
472BRCA1NM_ 007294.3(BRCA1): c.1390dupA (p.Thr464Asnfs)duplicationPathogenicrs397508867GRCh37Chr 17, 41246158: 41246158
473BRCA1NM_ 007294.3(BRCA1): c.140_ 141insT (p.Met48Hisfs)insertionPathogenicrs886039950GRCh37Chr 17, 41258544: 41258545
474BRCA1NM_ 007294.3(BRCA1): c.1412dupT (p.Asn473Glnfs)duplicationPathogenicrs886039951GRCh37Chr 17, 41246136: 41246136
475BRCA1NM_ 007294.3(BRCA1): c.1419_ 1422delCTTA (p.Asn473Lysfs)deletionPathogenicrs886039952GRCh37Chr 17, 41246126: 41246129
476BRCA1NM_ 007294.3(BRCA1): c.1428_ 1437delTGTAACTGAA (p.His476Glnfs)deletionPathogenicrs886039953GRCh37Chr 17, 41246111: 41246120
477BRCA1NM_ 007294.3(BRCA1): c.1497_ 1509delAAATAAATTAAAG (p.Asn500Valfs)deletionPathogenicrs886039954GRCh37Chr 17, 41246039: 41246051
478BRCA1NM_ 007294.3(BRCA1): c.1504_ 1507delTTAA (p.Leu502Serfs)deletionPathogenicrs886039955GRCh38Chr 17, 43094024: 43094027
479BRCA1NM_ 007294.3(BRCA1): c.1505delT (p.Leu502Terfs)deletionPathogenicrs886039956GRCh38Chr 17, 43094026: 43094026
480BRCA1NM_ 007294.3(BRCA1): c.1505T> G (p.Leu502Ter)SNVPathogenicrs886039957GRCh38Chr 17, 43094026: 43094026
481BRCA1NM_ 007294.3(BRCA1): c.1529C> A (p.Ser510Ter)SNVPathogenicrs80357427GRCh38Chr 17, 43094002: 43094002
482BRCA1NM_ 007294.3(BRCA1): c.1575delT (p.Gln526Lysfs)deletionPathogenicrs886039958GRCh37Chr 17, 41245973: 41245973
483BRCA1NM_ 007294.3(BRCA1): c.1616_ 1625delCGGAGCAGAA (p.Thr539Metfs)deletionPathogenicrs886039959GRCh37Chr 17, 41245923: 41245932
484BRCA1NM_ 007294.3(BRCA1): c.1618G> T (p.Glu540Ter)SNVPathogenicrs730881471GRCh37Chr 17, 41245930: 41245930
485BRCA1NM_ 007294.3(BRCA1): c.1637_ 1685del49insGAAAG (p.Met546Argfs)indelPathogenicrs483353085GRCh38Chr 17, 43093846: 43093894
486BRCA1NM_ 007294.3(BRCA1): c.1642_ 1643delAT (p.Ile548Tyrfs)deletionPathogenicrs886039960GRCh38Chr 17, 43093888: 43093889
487BRCA1NM_ 007294.3(BRCA1): c.1651_ 1652insC (p.Ser551Thrfs)insertionPathogenicrs886039961GRCh37Chr 17, 41245896: 41245897
488BRCA1NM_ 007294.3(BRCA1): c.1669delA (p.Thr557Glnfs)deletionPathogenicrs886039962GRCh38Chr 17, 43093862: 43093862
489BRCA1NM_ 007294.3(BRCA1): c.1693G> T (p.Glu565Ter)SNVPathogenicrs886039963GRCh37Chr 17, 41245855: 41245855
490BRCA1NM_ 007294.3(BRCA1): c.171dupG (p.Pro58Alafs)duplicationPathogenicrs886039964GRCh37Chr 17, 41258514: 41258514
491BRCA1NM_ 007294.3(BRCA1): c.1723G> T (p.Glu575Ter)SNVPathogenicrs397508902GRCh37Chr 17, 41245825: 41245825
492BRCA1NM_ 007294.3(BRCA1): c.1749_ 1755delAGCTGAA (p.Lys583Asnfs)deletionPathogenicrs886039965GRCh37Chr 17, 41245793: 41245799
493BRCA1NM_ 007294.3(BRCA1): c.1762dupA (p.Ser588Lysfs)duplicationPathogenicrs886039966GRCh37Chr 17, 41245786: 41245786
494BRCA1NM_ 007294.3(BRCA1): c.176C> A (p.Ser59Ter)SNVPathogenicrs199522616GRCh38Chr 17, 43106492: 43106492
495BRCA1NM_ 007294.3(BRCA1): c.1779_ 1785delTATGGAA (p.Met594Serfs)deletionPathogenicrs886039967GRCh37Chr 17, 41245763: 41245769
496BRCA1NM_ 007294.3(BRCA1): c.1795_ 1798delAATA (p.Asn599Serfs)deletionPathogenicrs886039968GRCh38Chr 17, 43093733: 43093736
497BRCA1NM_ 007294.3(BRCA1): c.179dupA (p.Cys61Valfs)duplicationPathogenicrs886039969GRCh37Chr 17, 41258506: 41258506
498BRCA1NM_ 007294.3(BRCA1): c.1803delC (p.His601Glnfs)deletionPathogenicrs886039970GRCh37Chr 17, 41245745: 41245745
499BRCA1NM_ 007294.3(BRCA1): c.182_ 183insGCGC (p.Cys61Trpfs)insertionPathogenicrs886039971GRCh37Chr 17, 41258502: 41258503
500BRCA1NM_ 007294.3(BRCA1): c.1820_ 1823delAAAA (p.Lys607Argfs)deletionPathogenicrs886039972GRCh37Chr 17, 41245725: 41245728
501BRCA1NM_ 007294.3(BRCA1): c.1844_ 1845insG (p.Ser616Phefs)insertionPathogenicrs886039973GRCh37Chr 17, 41245703: 41245704
502BRCA1NM_ 007294.3(BRCA1): c.1847delC (p.Ser616Leufs)deletionPathogenicrs886039974GRCh37Chr 17, 41245701: 41245701
503BRCA1NM_ 007294.3(BRCA1): c.1878_ 1879insTAGT (p.Val627Terfs)insertionPathogenicrs886039975GRCh37Chr 17, 41245669: 41245670
504BRCA1NM_ 007294.3(BRCA1): c.1885delA (p.Arg629Glufs)deletionPathogenicrs886039976GRCh37Chr 17, 41245663: 41245663
505BRCA1NM_ 007294.3(BRCA1): c.1887_ 1900dupAAATCTAAGCCCAC (p.Pro634Glnfs)duplicationPathogenicrs886039977GRCh37Chr 17, 41245648: 41245661
506BRCA1NM_ 007294.3(BRCA1): c.190_ 211del22 (p.Cys64Glyfs)deletionPathogenicrs886039978GRCh37Chr 17, 41258474: 41258495
507BRCA1NM_ 007294.3(BRCA1): c.1905_ 1909delTTGTA (p.Cys636Terfs)deletionPathogenicrs886039979GRCh37Chr 17, 41245639: 41245643
508BRCA1NM_ 007294.3(BRCA1): c.1908_ 1911delTACT (p.Cys636Trpfs)deletionPathogenicrs886039980GRCh37Chr 17, 41245637: 41245640
509BRCA1NM_ 007294.3(BRCA1): c.1918C> T (p.Gln640Ter)SNVPathogenicrs886039981GRCh37Chr 17, 41245630: 41245630
510BRCA1NM_ 007294.3(BRCA1): c.1930delT (p.Cys644Valfs)deletionPathogenicrs886039982GRCh38Chr 17, 43093601: 43093601
511BRCA1NM_ 007294.3(BRCA1): c.1938_ 1945delCAGTGAAG (p.Ser646Argfs)deletionPathogenicrs886039983GRCh38Chr 17, 43093586: 43093593
512BRCA1NM_ 007294.3(BRCA1): c.1942G> T (p.Glu648Ter)SNVPathogenicrs886039984GRCh38Chr 17, 43093589: 43093589
513BRCA1NM_ 007294.3(BRCA1): c.1949_ 1952delTAAA (p.Ile650Argfs)deletionPathogenicrs886039985GRCh38Chr 17, 43093579: 43093582
514BRCA1NM_ 007294.3(BRCA1): c.1953delG (p.Lys654Serfs)deletionPathogenicrs886039986GRCh37Chr 17, 41245595: 41245595
515BRCA1NM_ 007294.3(BRCA1): c.1965C> A (p.Tyr655Ter)SNVPathogenicrs886039987GRCh38Chr 17, 43093566: 43093566
516BRCA1NM_ 007294.3(BRCA1): c.1978delG (p.Val660Serfs)deletionPathogenicrs886039988GRCh38Chr 17, 43093553: 43093553
517BRCA1NM_ 007294.3(BRCA1): c.2012dupG (p.Lys672Terfs)duplicationPathogenicrs886039989GRCh38Chr 17, 43093519: 43093519
518BRCA1NM_ 007294.3(BRCA1): c.202dupA (p.Ile68Asnfs)duplicationPathogenicrs886039990GRCh37Chr 17, 41258483: 41258483
519BRCA1NM_ 007294.3(BRCA1): c.2068A> T (p.Lys690Ter)SNVPathogenicrs587781448GRCh38Chr 17, 43093463: 43093463
520BRCA1NM_ 007294.3(BRCA1): c.2077delGinsATA (p.Asp693Ilefs)indelPathogenicrs886039991GRCh38Chr 17, 43093454: 43093454
521BRCA1NM_ 007294.3(BRCA1): c.2078_ 2079insTA (p.Ser694Thrfs)insertionPathogenicrs886039992GRCh38Chr 17, 43093452: 43093453
522BRCA1NM_ 007294.3(BRCA1): c.2080dupA (p.Ser694Lysfs)duplicationPathogenicrs886039993GRCh38Chr 17, 43093451: 43093451
523BRCA1NM_ 007294.3(BRCA1): c.2086_ 2089delACTT (p.Thr696Serfs)deletionPathogenicrs886039994GRCh38Chr 17, 43093442: 43093445
524BRCA1NM_ 007294.3(BRCA1): c.2086dupA (p.Thr696Asnfs)duplicationPathogenicrs886039995GRCh38Chr 17, 43093445: 43093445
525BRCA1NM_ 007294.3(BRCA1): c.2090dupT (p.Glu699Argfs)duplicationPathogenicrs886039996GRCh38Chr 17, 43093441: 43093441
526BRCA1NM_ 007294.3(BRCA1): c.2105delT (p.Leu702Terfs)deletionPathogenicrs886039997GRCh38Chr 17, 43093426: 43093426
527BRCA1NM_ 007294.3(BRCA1): c.2112_ 2131dup20 (p.Lys711Metfs)duplicationPathogenicrs886039998GRCh37Chr 17, 41245417: 41245436
528BRCA1NM_ 007294.3(BRCA1): c.2125_ 2126insAGT (p.Phe709_ Asn1043delinsTer)insertionPathogenicrs80357871GRCh38Chr 17, 43093405: 43093406
529BRCA1NM_ 007294.3(BRCA1): c.2127_ 2128insGA (p.Thr710Glufs)insertionPathogenicrs886039999GRCh38Chr 17, 43093403: 43093404
530BRCA1NM_ 007294.3(BRCA1): c.2127delT (p.Phe709Leufs)deletionPathogenicrs886040000GRCh38Chr 17, 43093404: 43093404
531BRCA1NM_ 007294.3(BRCA1): c.2135_ 2136delGT (p.Cys712Phefs)deletionPathogenicrs886040001GRCh38Chr 17, 43093395: 43093396
532BRCA1NM_ 007294.3(BRCA1): c.2138_ 2139dupCA (p.Asn714Glnfs)duplicationPathogenicrs886040002GRCh37Chr 17, 41245409: 41245410
533BRCA1NM_ 007294.3(BRCA1): c.2142_ 2144delTACinsAG (p.Asn714Lysfs)indelPathogenicrs886040003GRCh38Chr 17, 43093387: 43093389
534BRCA1NM_ 007294.3(BRCA1): c.2149G> T (p.Glu717Ter)SNVPathogenicrs886040004GRCh38Chr 17, 43093382: 43093382
535BRCA1NM_ 007294.3(BRCA1): c.2155_ 2221dup67 (p.Ser741Terfs)duplicationPathogenicGRCh37Chr 17, 41245327: 41245393
536BRCA1NM_ 007294.3(BRCA1): c.2157_ 2160delAGAA (p.Lys719Asnfs)deletionPathogenicrs886040005GRCh38Chr 17, 43093371: 43093374
537BRCA1NM_ 007294.3(BRCA1): c.2161_ 2162insG (p.Phe721Cysfs)insertionPathogenicrs886040006GRCh38Chr 17, 43093369: 43093370
538BRCA1NM_ 007294.3(BRCA1): c.2185_ 2189delGAAGA (p.Glu729Lysfs)deletionPathogenicrs886040007GRCh38Chr 17, 43093342: 43093346
539BRCA1NM_ 007294.3(BRCA1): c.2188_ 2195delGAAAAAGAinsAAAAAGG (p.Glu730Lysfs)indelPathogenicrs886040008GRCh38Chr 17, 43093336: 43093343
540BRCA1NM_ 007294.3(BRCA1): c.2193delA (p.Glu732Lysfs)deletionPathogenicrs886040009GRCh38Chr 17, 43093338: 43093338
541BRCA1NM_ 007294.3(BRCA1): c.2194delGinsAA (p.Glu732Lysfs)indelPathogenicrs886040010GRCh38Chr 17, 43093337: 43093337
542BRCA1NM_ 007294.3(BRCA1): c.2195_ 2196delAAinsG (p.Glu732Glyfs)indelPathogenicrs886040011GRCh38Chr 17, 43093335: 43093336
543BRCA1NM_ 007294.3(BRCA1): c.2198dupA (p.Lys734Glufs)duplicationPathogenicrs886040012GRCh38Chr 17, 43093333: 43093333
544BRCA1NM_ 007294.3(BRCA1): c.22_ 50del29 (p.Val8Tyrfs)deletionPathogenicrs886040013GRCh37Chr 17, 41276064: 41276092
545BRCA1NM_ 007294.3(BRCA1): c.2202dupA (p.Leu735Thrfs)duplicationPathogenicrs886040014GRCh38Chr 17, 43093329: 43093329
546BRCA1NM_ 007294.3(BRCA1): c.2205delA (p.Glu736Lysfs)deletionPathogenicrs886040015GRCh38Chr 17, 43093326: 43093326
547BRCA1NM_ 007294.3(BRCA1): c.2211dupA (p.Val738Serfs)duplicationPathogenicrs886040016GRCh38Chr 17, 43093320: 43093320
548BRCA1NM_ 007294.3(BRCA1): c.2214_ 2218delTAAAGinsAAA (p.Lys739Asnfs)indelPathogenicrs886040017GRCh37Chr 17, 41245330: 41245334
549BRCA1NM_ 007294.3(BRCA1): c.2218delG (p.Val740Cysfs)deletionPathogenicrs886040018GRCh37Chr 17, 41245330: 41245330
550BRCA1NM_ 007294.3(BRCA1): c.2222_ 2223delCT (p.Ser741Terfs)deletionPathogenicrs886040019GRCh38Chr 17, 43093308: 43093309
551BRCA1NM_ 007294.3(BRCA1): c.2223dupT (p.Asn742Terfs)duplicationPathogenicrs886040020GRCh37Chr 17, 41245325: 41245325
552BRCA1NM_ 007294.3(BRCA1): c.2273delT (p.Leu758Cysfs)deletionPathogenicrs886040021GRCh38Chr 17, 43093258: 43093258
553BRCA1NM_ 007294.3(BRCA1): c.2307_ 2313delTTCATTG (p.Ile769Metfs)deletionPathogenicrs886040022GRCh38Chr 17, 43093218: 43093224
554BRCA1NM_ 007294.3(BRCA1): c.2309C> G (p.Ser770Ter)SNVPathogenicrs80357063GRCh38Chr 17, 43093222: 43093222
555BRCA1NM_ 007294.3(BRCA1): c.2311_ 2312insC (p.Leu771Serfs)insertionPathogenicrs886040023GRCh37Chr 17, 41245236: 41245237
556BRCA1NM_ 007294.3(BRCA1): c.2314_ 2315delGT (p.Val772Thrfs)deletionPathogenicrs886040024GRCh38Chr 17, 43093216: 43093217
557BRCA1NM_ 007294.3(BRCA1): c.2322delT (p.Thr775Leufs)deletionPathogenicrs886040025GRCh38Chr 17, 43093209: 43093209
558BRCA1NM_ 007294.3(BRCA1): c.2331T> G (p.Tyr777Ter)SNVPathogenicrs80357444GRCh38Chr 17, 43093200: 43093200
559BRCA1NM_ 007294.3(BRCA1): c.2340_ 2343delGGAA (p.Glu781Valfs)deletionPathogenicrs886040026GRCh37Chr 17, 41245205: 41245208
560BRCA1NM_ 007294.3(BRCA1): c.2346dupT (p.Ile783Tyrfs)duplicationPathogenicrs886040027GRCh38Chr 17, 43093185: 43093185
561BRCA1NM_ 007294.3(BRCA1): c.2361delA (p.Val788Leufs)deletionPathogenicrs886040028GRCh38Chr 17, 43093170: 43093170
562BRCA1NM_ 007294.3(BRCA1): c.2368_ 2369delAC (p.Thr790Serfs)deletionPathogenicrs886040029GRCh38Chr 17, 43093162: 43093163
563BRCA1NM_ 007294.3(BRCA1): c.237delT (p.Phe79Leufs)deletionPathogenicrs886040030GRCh37Chr 17, 41256949: 41256949
564BRCA1NM_ 007294.3(BRCA1): c.2387dupC (p.Glu797Argfs)duplicationPathogenicrs886040031GRCh38Chr 17, 43093144: 43093144
565BRCA1NM_ 007294.3(BRCA1): c.239_ 241delGTCinsTT (p.Ser80Ilefs)indelPathogenicrs886040032GRCh37Chr 17, 41256945: 41256947
566BRCA1NM_ 007294.3(BRCA1): c.2396delA (p.Asn799Ilefs)deletionPathogenicrs886040033GRCh37Chr 17, 41245152: 41245152
567BRCA1NM_ 007294.3(BRCA1): c.2398_ 2411delAAATGTGTGAGTCA (p.Lys800Valfs)deletionPathogenicrs886040034GRCh38Chr 17, 43093120: 43093133
568BRCA1NM_ 007294.3(BRCA1): c.2411delA (p.Gln804Argfs)deletionPathogenicrs886040035GRCh38Chr 17, 43093120: 43093120
569BRCA1NM_ 007294.3(BRCA1): c.2418dupA (p.Ala807Serfs)duplicationPathogenicrs886040036GRCh38Chr 17, 43093113: 43093113
570BRCA1NM_ 007294.3(BRCA1): c.2429dupA (p.Asn810Lysfs)duplicationPathogenicrs886040037GRCh38Chr 17, 43093102: 43093102
571BRCA1NM_ 007294.3(BRCA1): c.2442_ 2443insT (p.Ile815Tyrfs)insertionPathogenicrs886040038GRCh38Chr 17, 43093088: 43093089
572BRCA1NM_ 007294.3(BRCA1): c.246delT (p.Val83Leufs)deletionPathogenicrs886040039GRCh37Chr 17, 41256940: 41256940
573BRCA1NM_ 007294.3(BRCA1): c.2473delG (p.Asp825Thrfs)deletionPathogenicrs886040040GRCh38Chr 17, 43093058: 43093058
574BRCA1NM_ 007294.3(BRCA1): c.2477_ 2492del16insTG (p.Thr826Metfs)indelPathogenicrs886040041GRCh37Chr 17, 41245056: 41245071
575BRCA1NM_ 007294.3(BRCA1): c.2481delA (p.Gly828Alafs)deletionPathogenicrs886040042GRCh38Chr 17, 43093050: 43093050
576BRCA1NM_ 007294.3(BRCA1): c.2487_ 2488insCCCCT (p.Lys830Profs)insertionPathogenicrs397508972GRCh37Chr 17, 41245060: 41245061
577BRCA1NM_ 007294.3(BRCA1): c.2489_ 2492delAGTA (p.Lys830Ilefs)deletionPathogenicrs886040043GRCh37Chr 17, 41245056: 41245059
578BRCA1NM_ 007294.3(BRCA1): c.2490_ 2497dupGTATCCAT (p.Leu833Cysfs)duplicationPathogenicrs397508973GRCh37Chr 17, 41245051: 41245058
579BRCA1NM_ 007294.3(BRCA1): c.2501delG (p.Gly834Aspfs)deletionPathogenicrs886040044GRCh38Chr 17, 43093030: 43093030
580BRCA1NM_ 007294.3(BRCA1): c.2524dupG (p.Glu842Glyfs)duplicationPathogenicrs886040045GRCh37Chr 17, 41245024: 41245024
581BRCA1NM_ 007294.3(BRCA1): c.2524G> T (p.Glu842Ter)SNVPathogenicrs876658552GRCh38Chr 17, 43093007: 43093007
582BRCA1NM_ 007294.3(BRCA1): c.2529_ 2530delAA (p.Ser844Hisfs)deletionPathogenicrs886040046GRCh37Chr 17, 41245018: 41245019
583BRCA1NM_ 007294.3(BRCA1): c.2532_ 2536delCATAG (p.Ser844Argfs)deletionPathogenicrs886040047GRCh38Chr 17, 43092995: 43092999
584BRCA1NM_ 007294.3(BRCA1): c.2536G> T (p.Glu846Ter)SNVPathogenicrs786203523GRCh37Chr 17, 41245012: 41245012
585BRCA1NM_ 007294.3(BRCA1): c.2538_ 2540delAATinsG (p.Met847Glyfs)indelPathogenicrs886040048GRCh38Chr 17, 43092991: 43092993
586BRCA1NM_ 007294.3(BRCA1): c.2542_ 2545delGAAG (p.Glu848Lysfs)deletionPathogenicrs886040049GRCh38Chr 17, 43092986: 43092989
587BRCA1NM_ 007294.3(BRCA1): c.2551G> T (p.Glu851Ter)SNVPathogenicrs398122662GRCh37Chr 17, 41244997: 41244997
588BRCA1NM_ 007294.3(BRCA1): c.2552_ 2553delAA (p.Glu851Alafs)deletionPathogenicrs886040050GRCh37Chr 17, 41244995: 41244996
589BRCA1NM_ 007294.3(BRCA1): c.2552_ 2553dupAA (p.Leu852Asnfs)duplicationPathogenicrs886040051GRCh38Chr 17, 43092978: 43092979
590BRCA1NM_ 007294.3(BRCA1): c.2577_ 2578insTT (p.Thr860Leufs)insertionPathogenicrs886040052GRCh37Chr 17, 41244970: 41244971
591BRCA1NM_ 007294.3(BRCA1): c.2587delG (p.Val863Phefs)deletionPathogenicrs886040053GRCh38Chr 17, 43092944: 43092944
592BRCA1NM_ 007294.3(BRCA1): c.260T> A (p.Leu87Ter)SNVPathogenicrs886040054GRCh37Chr 17, 41256926: 41256926
593BRCA1NM_ 007294.3(BRCA1): c.2617delT (p.Ser873Glnfs)deletionPathogenicrs886040055GRCh38Chr 17, 43092914: 43092914
594BRCA1NM_ 007294.3(BRCA1): c.2637delA (p.Glu880Argfs)deletionPathogenicrs886040056GRCh37Chr 17, 41244911: 41244911
595BRCA1NM_ 007294.3(BRCA1): c.2648_ 2649insGGCA (p.Thr884Alafs)insertionPathogenicrs886040057GRCh37Chr 17, 41244899: 41244900
596BRCA1NM_ 007294.3(BRCA1): c.2649_ 2650delAA (p.Thr884Ilefs)deletionPathogenicrs886040058GRCh38Chr 17, 43092881: 43092882
597BRCA1NM_ 007294.3(BRCA1): c.2652dupA (p.Phe885Ilefs)duplicationPathogenicrs886040059GRCh38Chr 17, 43092879: 43092879
598BRCA1NM_ 007294.3(BRCA1): c.2675T> G (p.Leu892Ter)SNVPathogenicrs397508994GRCh37Chr 17, 41244873: 41244873
599BRCA1NM_ 007294.3(BRCA1): c.2678dupA (p.Lys894Glufs)duplicationPathogenicrs886040060GRCh37Chr 17, 41244870: 41244870
600BRCA1NM_ 007294.3(BRCA1): c.2683_ 2693delCAAAGTCCAAA (p.Gln895Serfs)deletionPathogenicrs886040061GRCh37Chr 17, 41244855: 41244865
601BRCA1NM_ 007294.3(BRCA1): c.2687_ 2693delGTCCAAA (p.Ser896Lysfs)deletionPathogenicrs886040062GRCh37Chr 17, 41244855: 41244861
602BRCA1NM_ 007294.3(BRCA1): c.2694delA (p.Val899Serfs)deletionPathogenicrs886040063GRCh37Chr 17, 41244854: 41244854
603BRCA1NM_ 007294.3(BRCA1): c.2704delG (p.Glu902Asnfs)deletionPathogenicrs886040064GRCh37Chr 17, 41244844: 41244844
604BRCA1NM_ 007294.3(BRCA1): c.2709_ 2710delTG (p.Cys903Terfs)deletionPathogenicrs886040065GRCh37Chr 17, 41244838: 41244839
605BRCA1NM_ 007294.3(BRCA1): c.2710delG (p.Glu904Asnfs)deletionPathogenicrs886040066GRCh37Chr 17, 41244838: 41244838
606BRCA1NM_ 007294.3(BRCA1): c.2750delT (p.Ile917Thrfs)deletionPathogenicrs886040067GRCh38Chr 17, 43092781: 43092781
607BRCA1NM_ 007294.3(BRCA1): c.2751delC (p.Lys918Serfs)deletionPathogenicrs886040068GRCh37Chr 17, 41244797: 41244797
608BRCA1NM_ 007294.3(BRCA1): c.2753_ 2755delAGCinsCA (p.Lys918Thrfs)indelPathogenicrs886040069GRCh38Chr 17, 43092776: 43092778
609BRCA1NM_ 007294.3(BRCA1): c.2776_ 2777delAC (p.Thr926Cysfs)deletionPathogenicrs886040070GRCh38Chr 17, 43092754: 43092755
610BRCA1NM_ 007294.3(BRCA1): c.2776_ 2777insTA (p.Thr926Ilefs)insertionPathogenicrs886040071GRCh38Chr 17, 43092754: 43092755
611BRCA1NM_ 007294.3(BRCA1): c.2778dupT (p.Ala927Cysfs)duplicationPathogenicrs886040072GRCh38Chr 17, 43092753: 43092753
612BRCA1NM_ 007294.3(BRCA1): c.2787_ 2788insTTATCACTGCAGGCTTT (p.Pro930Leufs)insertionPathogenicrs886040073GRCh37Chr 17, 41244760: 41244761
613BRCA1NM_ 007294.3(BRCA1): c.2814delA (p.Val939Leufs)deletionPathogenicrs886040074GRCh37Chr 17, 41244734: 41244734
614BRCA1NM_ 007294.3(BRCA1): c.2823delT (p.Asn941Lysfs)deletionPathogenicrs886040075GRCh37Chr 17, 41244725: 41244725
615BRCA1NM_ 007294.3(BRCA1): c.2843delG (p.Gly948Glufs)deletionPathogenicrs886040076GRCh38Chr 17, 43092688: 43092688
616BRCA1NM_ 007294.3(BRCA1): c.2850_ 2851insC (p.Arg951Glnfs)insertionPathogenicrs886040077GRCh38Chr 17, 43092680: 43092681
617BRCA1NM_ 007294.3(BRCA1): c.2850dupT (p.Arg951Terfs)duplicationPathogenicrs886040077GRCh38Chr 17, 43092681: 43092681
618BRCA1NM_ 007294.3(BRCA1): c.2861_ 2864delTATC (p.Leu954Hisfs)deletionPathogenicrs886040078GRCh38Chr 17, 43092667: 43092670
619BRCA1NM_ 007294.3(BRCA1): c.2861dupT (p.Ser955Ilefs)duplicationPathogenicrs886040079GRCh38Chr 17, 43092670: 43092670
620BRCA1NM_ 007294.3(BRCA1): c.2864C> G (p.Ser955Ter)SNVPathogenicrs80357295GRCh37Chr 17, 41244684: 41244684
621BRCA1NM_ 007294.3(BRCA1): c.2875delA (p.Arg959Glufs)deletionPathogenicrs886040080GRCh37Chr 17, 41244673: 41244673
622BRCA1NM_ 007294.3(BRCA1): c.2878_ 2879delGG (p.Gly960Glnfs)deletionPathogenicrs886040081GRCh37Chr 17, 41244669: 41244670
623BRCA1NM_ 007294.3(BRCA1): c.2882delA (p.Asn961Thrfs)deletionPathogenicrs886040082GRCh37Chr 17, 41244666: 41244666
624BRCA1NM_ 007294.3(BRCA1): c.2890G> T (p.Gly964Ter)SNVPathogenicrs879254027GRCh38Chr 17, 43092641: 43092641
625BRCA1NM_ 007294.3(BRCA1): c.2903_ 2904insTC (p.Asn969Glnfs)insertionPathogenicrs886040083GRCh37Chr 17, 41244644: 41244645
626BRCA1NM_ 007294.3(BRCA1): c.2906_ 2908delATAinsCT (p.Asn969Thrfs)indelPathogenicrs886040084GRCh38Chr 17, 43092623: 43092625
627BRCA1NM_ 007294.3(BRCA1): c.2906delA (p.Asn969Ilefs)deletionPathogenicrs886040085GRCh38Chr 17, 43092625: 43092625
628BRCA1NM_ 007294.3(BRCA1): c.2917_ 2920delCTTT (p.Leu973Tyrfs)deletionPathogenicrs886040086GRCh37Chr 17, 41244628: 41244631
629BRCA1NM_ 007294.3(BRCA1): c.2951_ 2952delTT (p.Phe984Serfs)deletionPathogenicrs886040087GRCh37Chr 17, 41244596: 41244597
630BRCA1NM_ 007294.3(BRCA1): c.2959A> T (p.Lys987Ter)SNVPathogenicrs878854941GRCh38Chr 17, 43092572: 43092572
631BRCA1NM_ 007294.3(BRCA1): c.2960dupA (p.Ser988Valfs)duplicationPathogenicrs886040088GRCh38Chr 17, 43092571: 43092571
632BRCA1NM_ 007294.3(BRCA1): c.2970delT (p.Thr992Leufs)deletionPathogenicrs886040089GRCh38Chr 17, 43092561: 43092561
633BRCA1NM_ 007294.3(BRCA1): c.2971A> T (p.Lys991Ter)SNVPathogenicrs886040090GRCh37Chr 17, 41244577: 41244577
634BRCA1NM_ 007294.3(BRCA1): c.2981delG (p.Cys994Leufs)deletionPathogenicrs886040091GRCh37Chr 17, 41244567: 41244567
635BRCA1NM_ 007294.3(BRCA1): c.3006_ 3009delCTTT (p.Asn1002Lysfs)deletionPathogenicrs886040092GRCh37Chr 17, 41244539: 41244542
636BRCA1NM_ 007294.3(BRCA1): c.3010G> T (p.Glu1004Ter)SNVPathogenicrs786202534GRCh37Chr 17, 41244538: 41244538
637BRCA1NM_ 007294.3(BRCA1): c.3020_ 3023delCAAT (p.Ser1007Cysfs)deletionPathogenicrs886040093GRCh38Chr 17, 43092508: 43092511
638BRCA1NM_ 007294.3(BRCA1): c.3024dupG (p.Ser1009Valfs)duplicationPathogenicrs886040094GRCh38Chr 17, 43092507: 43092507
639BRCA1NM_ 007294.3(BRCA1): c.303T> A (p.Tyr101Ter)SNVPathogenicrs80356936GRCh37Chr 17, 41256277: 41256277
640BRCA1NM_ 007294.3(BRCA1)insertionPathogenicrs886040095GRCh37Chr 17, 41244472: 41244473
641BRCA1NM_ 007294.3(BRCA1): c.3087_ 3100dupTAACATTAGAGAAA (p.Asn1034Ilefs)duplicationPathogenicrs80357967GRCh37Chr 17, 41244448: 41244461
642BRCA1NM_ 007294.3(BRCA1): c.3109_ 3110insT (p.Lys1037Ilefs)insertionPathogenicrs886040096GRCh37Chr 17, 41244438: 41244439
643BRCA1NM_ 007294.3(BRCA1): c.310delA (p.Ser104Alafs)deletionPathogenicrs886040097GRCh38Chr 17, 43104253: 43104253
644BRCA1NM_ 007294.3(BRCA1): c.3115delG (p.Ala1039Profs)deletionPathogenicrs886040098GRCh37Chr 17, 41244433: 41244433
645BRCA1NM_ 007294.3(BRCA1): c.3117_ 3120delCAGC (p.Ser1040Glnfs)deletionPathogenicrs886040099GRCh37Chr 17, 41244428: 41244431
646BRCA1NM_ 007294.3(BRCA1): c.3143delG (p.Gly1048Valfs)deletionPathogenicrs886040100GRCh37Chr 17, 41244405: 41244405
647BRCA1NM_ 007294.3(BRCA1): c.3150_ 3208dup59 (p.Ala1070Valfs)duplicationPathogenicGRCh38Chr 17, 43092323: 43092381
648BRCA1NM_ 007294.3(BRCA1): c.3182delT (p.Ile1061Lysfs)deletionPathogenicrs886040101GRCh38Chr 17, 43092349: 43092349
649BRCA1NM_ 007294.3(BRCA1): c.3203_ 3206delTTCA (p.Ile1068Lysfs)deletionPathogenicrs886040102GRCh37Chr 17, 41244342: 41244345
650BRCA1NM_ 007294.3(BRCA1): c.3205delC (p.Gln1069Lysfs)deletionPathogenicrs886040103GRCh37Chr 17, 41244343: 41244343
651BRCA1NM_ 007294.3(BRCA1): c.3210dupA (p.Glu1071Argfs)duplicationPathogenicrs886040104GRCh37Chr 17, 41244338: 41244338
652BRCA1NM_ 007294.3(BRCA1): c.3211_ 3212dupGA (p.Leu1072Asnfs)duplicationPathogenicrs886040105GRCh37Chr 17, 41244336: 41244337
653BRCA1NM_ 007294.3(BRCA1): c.3217_ 3218delGG (p.Gly1073Terfs)deletionPathogenicrs886040106GRCh37Chr 17, 41244330: 41244331
654BRCA1NM_ 007294.3(BRCA1): c.3243_ 3288dup46 (p.Ser1097Cysfs)duplicationPathogenicrs483353088GRCh37Chr 17, 41244260: 41244305
655BRCA1NM_ 007294.3(BRCA1): c.3258delA (p.Val1088Phefs)deletionPathogenicrs886040107GRCh37Chr 17, 41244290: 41244290
656BRCA1NM_ 007294.3(BRCA1): c.3262_ 3277del16 (p.Val1088Serfs)deletionPathogenicrs886040108GRCh38Chr 17, 43092254: 43092269
657BRCA1NM_ 007294.3(BRCA1): c.3266delT (p.Leu1089Cysfs)deletionPathogenicrs886040109GRCh37Chr 17, 41244282: 41244282
658BRCA1NM_ 007294.3(BRCA1): c.3266T> A (p.Leu1089Ter)SNVPathogenicrs886040110GRCh37Chr 17, 41244282: 41244282
659BRCA1NM_ 007294.3(BRCA1): c.3282T> G (p.Tyr1094Ter)SNVPathogenicrs886040111GRCh37Chr 17, 41244266: 41244266
660BRCA1NM_ 007294.3(BRCA1): c.330_ 331insA (p.Glu111Argfs)insertionPathogenicrs886040112GRCh37Chr 17, 41256249: 41256250
661BRCA1NM_ 007294.3(BRCA1): c.3308_ 3309insC (p.Lys1104Terfs)insertionPathogenicrs886040113GRCh37Chr 17, 41244239: 41244240
662BRCA1NM_ 007294.3(BRCA1): c.331delG (p.Glu111Lysfs)deletionPathogenicrs886040114GRCh37Chr 17, 41256249: 41256249
663BRCA1NM_ 007294.3(BRCA1): c.3331_ 3335delCAAGA (p.Gln1111Ilefs)deletionPathogenicrs886040115GRCh38Chr 17, 43092196: 43092200
664BRCA1NM_ 007294.3(BRCA1): c.3331delC (p.Gln1111Lysfs)deletionPathogenicrs886040116GRCh38Chr 17, 43092200: 43092200
665BRCA1NM_ 007294.3(BRCA1): c.3339_ 3341delTGA (p.Tyr1113_ Ser1448delinsTer)deletionPathogenicrs886040117GRCh37Chr 17, 41244207: 41244209
666BRCA1NM_ 007294.3(BRCA1): c.3358_ 3368delGTTAATACAGA (p.Val1120Phefs)deletionPathogenicrs886040118GRCh37Chr 17, 41244180: 41244190
667BRCA1NM_ 007294.3(BRCA1): c.335delA (p.Asn112Ilefs)deletionPathogenicrs886040119GRCh37Chr 17, 41256245: 41256245
668BRCA1NM_ 007294.3(BRCA1): c.3360dupT (p.Asn1121Terfs)duplicationPathogenicrs886040120GRCh38Chr 17, 43092171: 43092171
669BRCA1NM_ 007294.3(BRCA1): c.3373dupT (p.Ser1125Phefs)duplicationPathogenicrs886040121GRCh37Chr 17, 41244175: 41244175
670BRCA1NM_ 007294.3(BRCA1): c.3381T> G (p.Tyr1127Ter)SNVPathogenicrs781319410GRCh37Chr 17, 41244167: 41244167
671BRCA1NM_ 007294.3(BRCA1): c.3384_ 3391delGATTTCAG (p.Ile1129Terfs)deletionPathogenicrs886040122GRCh37Chr 17, 41244157: 41244164
672BRCA1NM_ 007294.3(BRCA1): c.3388delT (p.Ser1130Glnfs)deletionPathogenicrs886040123GRCh37Chr 17, 41244160: 41244160
673BRCA1NM_ 007294.3(BRCA1): c.3395delA (p.Asn1132Thrfs)deletionPathogenicrs886040124GRCh37Chr 17, 41244153: 41244153
674BRCA1NM_ 007294.3(BRCA1): c.3396delC (p.Leu1133Terfs)deletionPathogenicrs886040125GRCh37Chr 17, 41244152: 41244152
675BRCA1NM_ 007294.3(BRCA1): c.3412G> T (p.Gly1138Ter)SNVPathogenicrs886040126GRCh38Chr 17, 43092119: 43092119
676BRCA1NM_ 007294.3(BRCA1): c.3413dupG (p.Ser1139Lysfs)duplicationPathogenicrs886040127GRCh37Chr 17, 41244135: 41244135
677BRCA1NM_ 007294.3(BRCA1): c.3416_ 3427delGTAGTCATGCATinsC (p.Ser1139Thrfs)indelPathogenicrs886040128GRCh37Chr 17, 41244121: 41244132
678BRCA1NM_ 007294.3(BRCA1): c.342delT (p.Pro115Leufs)deletionPathogenicrs886040129GRCh37Chr 17, 41256238: 41256238
679BRCA1NM_ 007294.3(BRCA1): c.3461T> G (p.Leu1154Ter)SNVPathogenicrs886040130GRCh37Chr 17, 41244087: 41244087
680BRCA1NM_ 007294.3(BRCA1): c.3478_ 3479delAA (p.Lys1160Glyfs)deletionPathogenicrs886040131GRCh38Chr 17, 43092052: 43092053
681BRCA1NM_ 007294.3(BRCA1): c.3479_ 3483delAGGAA (p.Lys1160Argfs)deletionPathogenicrs886040132GRCh38Chr 17, 43092048: 43092052
682BRCA1NM_ 007294.3(BRCA1): c.3482_ 3492delAAGATACTAGT (p.Glu1161Valfs)deletionPathogenicrs886040133GRCh38Chr 17, 43092039: 43092049
683BRCA1NM_ 007294.3(BRCA1): c.3485_ 3488delATAC (p.Asp1162Valfs)deletionPathogenicrs886040134GRCh38Chr 17, 43092043: 43092046
684BRCA1NM_ 007294.3(BRCA1): c.3485_ 3491delATACTAG (p.Asp1162Valfs)deletionPathogenicrs886040135GRCh38Chr 17, 43092040: 43092046
685BRCA1NM_ 007294.3(BRCA1): c.3489_ 3499delTAGTTTTGCTG (p.Ser1164Lysfs)deletionPathogenicrs886040136GRCh38Chr 17, 43092032: 43092042
686BRCA1NM_ 007294.3(BRCA1): c.3498delT (p.Glu1167Lysfs)deletionPathogenicrs886040137GRCh37Chr 17, 41244050: 41244050
687BRCA1NM_ 007294.3(BRCA1): c.3504_ 3505insA (p.Asp1169Argfs)insertionPathogenicrs886040138GRCh38Chr 17, 43092026: 43092027
688BRCA1NM_ 007294.3(BRCA1): c.3512delA (p.Lys1171Argfs)deletionPathogenicrs886040139GRCh37Chr 17, 41244036: 41244036
689BRCA1NM_ 007294.3(BRCA1): c.3534delC (p.Ser1178Argfs)deletionPathogenicrs886040140GRCh37Chr 17, 41244014: 41244014
690BRCA1NM_ 007294.3(BRCA1): c.3541_ 3542delGT (p.Val1181Profs)deletionPathogenicrs886040141GRCh37Chr 17, 41244006: 41244007
691BRCA1NM_ 007294.3(BRCA1): c.355A> T (p.Lys119Ter)SNVPathogenicrs886040142GRCh37Chr 17, 41256225: 41256225
692BRCA1NM_ 007294.3(BRCA1): c.3564dupG (p.Ser1189Glufs)duplicationPathogenicrs886040143GRCh37Chr 17, 41243984: 41243984
693BRCA1NM_ 007294.3(BRCA1): c.357_ 358delAGinsT (p.Lys119Asnfs)indelPathogenicrs886040144GRCh37Chr 17, 41256222: 41256223
694BRCA1NM_ 007294.3(BRCA1): c.3571delA (p.Ser1191Alafs)deletionPathogenicrs886040145GRCh38Chr 17, 43091960: 43091960
695BRCA1NM_ 007294.3(BRCA1): c.3582_ 3589delCCATACAC (p.His1195Phefs)deletionPathogenicrs886040146GRCh37Chr 17, 41243959: 41243966
696BRCA1NM_ 007294.3(BRCA1): c.3583_ 3590delCATACACA (p.His1195Phefs)deletionPathogenicrs886040147GRCh37Chr 17, 41243958: 41243965
697BRCA1NM_ 007294.3(BRCA1): c.3587dupC (p.His1197Thrfs)duplicationPathogenicrs886040148GRCh37Chr 17, 41243961: 41243961
698BRCA1NM_ 007294.3(BRCA1): c.36_ 39delAAAT (p.Asn13Serfs)deletionPathogenicrs886040149GRCh37Chr 17, 41276075: 41276078
699BRCA1NM_ 007294.3(BRCA1): c.3604delT (p.Tyr1202Thrfs)deletionPathogenicrs886040150GRCh38Chr 17, 43091927: 43091927
700BRCA1NM_ 007294.3(BRCA1): c.3605dupA (p.Tyr1202Terfs)duplicationPathogenicrs886040151GRCh38Chr 17, 43091926: 43091926
701BRCA1NM_ 007294.3(BRCA1): c.361dupG (p.Glu121Glyfs)duplicationPathogenicrs886040152GRCh37Chr 17, 41256219: 41256219
702BRCA1NM_ 007294.3(BRCA1): c.3625_ 3626insA (p.Leu1209Tyrfs)insertionPathogenicrs886040153GRCh37Chr 17, 41243922: 41243923
703BRCA1NM_ 007294.3(BRCA1): c.363_ 364delAG (p.Glu121Aspfs)deletionPathogenicrs886040155GRCh37Chr 17, 41256216: 41256217
704BRCA1NM_ 007294.3(BRCA1): c.3631_ 3634delTCCT (p.Ser1211Glnfs)deletionPathogenicrs886040156GRCh37Chr 17, 41243914: 41243917
705BRCA1NM_ 007294.3(BRCA1): c.3651dupT (p.Ser1218Terfs)duplicationPathogenicrs886040157GRCh37Chr 17, 41243897: 41243897
706BRCA1NM_ 007294.3(BRCA1): c.3669delT (p.Cys1225Alafs)deletionPathogenicrs886040158GRCh38Chr 17, 43091862: 43091862
707BRCA1NM_ 007294.3(BRCA1): c.3679C> T (p.Gln1227Ter)SNVPathogenicrs886040159GRCh38Chr 17, 43091852: 43091852
708BRCA1NM_ 007294.3(BRCA1): c.372delC (p.Ile125Serfs)deletionPathogenicrs886040160GRCh37Chr 17, 41256208: 41256208
709BRCA1NM_ 007294.3(BRCA1): c.3731_ 3738delATAGCACC (p.His1244Argfs)deletionPathogenicrs886040161GRCh38Chr 17, 43091793: 43091800
710BRCA1NM_ 007294.3(BRCA1): c.3731_ 3743delATAGCACCGTTGC (p.His1244Leufs)deletionPathogenicrs886040162GRCh37Chr 17, 41243805: 41243817
711BRCA1NM_ 007294.3(BRCA1): c.3750delG (p.Glu1250Aspfs)deletionPathogenicrs886040163GRCh37Chr 17, 41243798: 41243798
712BRCA1NM_ 007294.3(BRCA1): c.3756_ 3760delGTCTA (p.Ser1253Glufs)deletionPathogenicrs886040164GRCh37Chr 17, 41243788: 41243792
713BRCA1NM_ 007294.3(BRCA1): c.3765delC (p.Asn1255Lysfs)deletionPathogenicrs886040165GRCh37Chr 17, 41243783: 41243783
714BRCA1NM_ 007294.3(BRCA1): c.3810C> A (p.Cys1270Ter)SNVPathogenicrs886040166GRCh38Chr 17, 43091721: 43091721
715BRCA1NM_ 007294.3(BRCA1): c.3821dupT (p.Ile1275Asnfs)duplicationPathogenicrs886040167GRCh37Chr 17, 41243727: 41243727
716BRCA1NM_ 007294.3(BRCA1): c.3837_ 3840delATCT (p.Ser1280Argfs)deletionPathogenicrs886040168GRCh38Chr 17, 43091691: 43091694
717BRCA1NM_ 007294.3(BRCA1): c.3839_ 3843delCTCAG (p.Ser1280Terfs)deletionPathogenicrs886040169GRCh38Chr 17, 43091688: 43091692
718BRCA1NM_ 007294.3(BRCA1): c.3840_ 3850delTCAGGAACATC (p.Gln1281Profs)deletionPathogenicrs886040170GRCh38Chr 17, 43091681: 43091691
719BRCA1NM_ 007294.3(BRCA1): c.385_ 386delGGinsC (p.Gly129Profs)indelPathogenicrs886040171GRCh38Chr 17, 43104177: 43104178
720BRCA1NM_ 007294.3(BRCA1): c.3851_ 3852dupAC (p.Leu1285Thrfs)duplicationPathogenicrs397507221GRCh38Chr 17, 43091679: 43091680
721BRCA1NM_ 007294.3(BRCA1): c.3862G> T (p.Glu1288Ter)SNVPathogenicrs876659708GRCh38Chr 17, 43091669: 43091669
722BRCA1NM_ 007294.3(BRCA1): c.3885delG (p.Leu1295Phefs)deletionPathogenicrs886040172GRCh37Chr 17, 41243663: 41243663
723BRCA1NM_ 007294.3(BRCA1): c.3907_ 3908delTTinsGGA (p.Leu1303Glyfs)indelPathogenicrs886040173GRCh37Chr 17, 41243640: 41243641
724BRCA1NM_ 007294.3(BRCA1): c.3908_ 3909dupTG (p.Glu1304Trpfs)duplicationPathogenicrs886040174GRCh38Chr 17, 43091622: 43091623
725BRCA1NM_ 007294.3(BRCA1): c.3917delT (p.Leu1306Terfs)deletionPathogenicrs886040175GRCh38Chr 17, 43091614: 43091614
726BRCA1NM_ 007294.3(BRCA1): c.3928dupA (p.Thr1310Asnfs)duplicationPathogenicrs886040176GRCh37Chr 17, 41243620: 41243620
727BRCA1NM_ 007294.3(BRCA1): c.3947_ 3950delTCTT (p.Phe1316Terfs)deletionPathogenicrs886040177GRCh37Chr 17, 41243598: 41243601
728BRCA1NM_ 007294.3(BRCA1): c.3952_ 3955delATTG (p.Ile1318Valfs)deletionPathogenicrs886040178GRCh38Chr 17, 43091576: 43091579
729BRCA1NM_ 007294.3(BRCA1): c.3959delC (p.Ser1320Phefs)deletionPathogenicrs886040179GRCh38Chr 17, 43091572: 43091572
730BRCA1NM_ 007294.3(BRCA1): c.3961delT (p.Ser1321Profs)deletionPathogenicrs886040180GRCh38Chr 17, 43091570: 43091570
731BRCA1NM_ 007294.3(BRCA1): c.3968_ 3971delAAAT (p.Gln1323Argfs)deletionPathogenicrs886040181GRCh38Chr 17, 43091560: 43091563
732BRCA1NM_ 007294.3(BRCA1): c.3972_ 3974delGAGinsAA (p.Met1324Ilefs)indelPathogenicrs886040182GRCh38Chr 17, 43091557: 43091559
733BRCA1NM_ 007294.3(BRCA1): c.3985_ 3987delGAAinsTTTC (p.Glu1329Phefs)indelPathogenicrs886040183GRCh38Chr 17, 43091544: 43091546
734BRCA1NM_ 007294.3(BRCA1): c.3990_ 3993delCCAG (p.Ser1330Argfs)deletionPathogenicrs886040184GRCh38Chr 17, 43091538: 43091541
735BRCA1NM_ 007294.3(BRCA1): c.3995_ 4001delGAGTTGG (p.Gly1332Valfs)deletionPathogenicrs886040185GRCh38Chr 17, 43091530: 43091536
736BRCA1NM_ 007294.3(BRCA1): c.40_ 41delGT (p.Val14Hisfs)deletionPathogenicrs886040186GRCh37Chr 17, 41276073: 41276074
737BRCA1NM_ 007294.3(BRCA1): c.4016_ 4017insTT (p.Glu1339Aspfs)insertionPathogenicrs886040187GRCh37Chr 17, 41243531: 41243532
738BRCA1NM_ 007294.3(BRCA1): c.4033G> T (p.Glu1345Ter)SNVPathogenicrs886040188GRCh37Chr 17, 41243515: 41243515
739BRCA1NM_ 007294.3(BRCA1): c.4036delG (p.Glu1346Lysfs)deletionPathogenicrs886040189GRCh38Chr 17, 43091495: 43091495
740BRCA1NM_ 007294.3(BRCA1): c.4039dupA (p.Arg1347Lysfs)duplicationPathogenicrs886040190GRCh38Chr 17, 43091492: 43091492
741BRCA1NM_ 007294.3(BRCA1): c.4042G> T (p.Gly1348Ter)SNVPathogenicrs886040191GRCh38Chr 17, 43091489: 43091489
742BRCA1NM_ 007294.3(BRCA1): c.4062_ 4066delTAATC (p.Asn1354Lysfs)deletionPathogenicrs886040192GRCh38Chr 17, 43091465: 43091469
743BRCA1NM_ 007294.3(BRCA1): c.4066C> T (p.Gln1356Ter)SNVPathogenicrs886040193GRCh38Chr 17, 43091465: 43091465
744BRCA1NM_ 007294.3(BRCA1): c.4066delC (p.Gln1356Lysfs)deletionPathogenicrs886040194GRCh37Chr 17, 41243482: 41243482
745BRCA1NM_ 007294.3(BRCA1): c.4069G> T (p.Glu1357Ter)SNVPathogenicrs886040195GRCh38Chr 17, 43091462: 43091462
746BRCA1NM_ 007294.3(BRCA1): c.406delA (p.Arg136Aspfs)deletionPathogenicrs886040196GRCh38Chr 17, 43104157: 43104157
747BRCA1NM_ 007294.3(BRCA1): c.4071delA (p.Glu1358Serfs)deletionPathogenicrs886040197GRCh38Chr 17, 43091460: 43091460
748BRCA1NM_ 007294.3(BRCA1): c.4074_ 4090del17 (p.Gln1359Leufs)deletionPathogenicrs886040198GRCh38Chr 17, 43091441: 43091457
749BRCA1NM_ 007294.3(BRCA1): c.4079delG (p.Ser1360Thrfs)deletionPathogenicrs886040199GRCh38Chr 17, 43091452: 43091452
750BRCA1NM_ 007294.3(BRCA1): c.407delG (p.Arg136Asnfs)deletionPathogenicrs886040200GRCh37Chr 17, 41256173: 41256173
751BRCA1NM_ 007294.3(BRCA1): c.40delG (p.Val14Serfs)deletionPathogenicrs886040201GRCh38Chr 17, 43124057: 43124057
752BRCA1NM_ 007294.3(BRCA1): c.4107_ 4108insATCT (p.Ser1370Ilefs)insertionPathogenicrs886040202GRCh37Chr 17, 41243038: 41243039
753BRCA1NM_ 007294.3(BRCA1): c.411_ 414delTCTA (p.Leu138Argfs)deletionPathogenicrs886040203GRCh37Chr 17, 41256166: 41256169
754BRCA1NM_ 007294.3(BRCA1): c.4116delT (p.Cys1372Trpfs)deletionPathogenicrs886040204GRCh37Chr 17, 41243030: 41243030
755BRCA1NM_ 007294.3(BRCA1): c.411delT (p.Leu138Tyrfs)deletionPathogenicrs886040205GRCh37Chr 17, 41256169: 41256169
756BRCA1NM_ 007294.3(BRCA1): c.4126_ 4129delACAA (p.Thr1376Alafs)deletionPathogenicrs886040206GRCh38Chr 17, 43091000: 43091003
757BRCA1NM_ 007294.3(BRCA1): c.4127delC (p.Thr1376Lysfs)deletionPathogenicrs886040207GRCh38Chr 17, 43091002: 43091002
758BRCA1NM_ 007294.3(BRCA1): c.4129delA (p.Ser1377Alafs)deletionPathogenicrs886040208GRCh37Chr 17, 41243017: 41243017
759BRCA1NM_ 007294.3(BRCA1): c.4137_ 4138delTG (p.Glu1380Argfs)deletionPathogenicrs886040209GRCh37Chr 17, 41243008: 41243009
760BRCA1NM_ 007294.3(BRCA1): c.4146_ 4155dupCTCAGGGCTA (p.Ser1386Leufs)duplicationPathogenicrs483353079GRCh37Chr 17, 41242991: 41243000
761BRCA1NM_ 007294.3(BRCA1): c.4162_ 4163delCA (p.Gln1388Glufs)deletionPathogenicrs886040210GRCh38Chr 17, 43090966: 43090967
762BRCA1NM_ 007294.3(BRCA1): c.4175delT (p.Leu1392Terfs)deletionPathogenicrs886040211GRCh37Chr 17, 41242971: 41242971
763BRCA1NM_ 007294.3(BRCA1): c.418dupA (p.Ser140Lysfs)duplicationPathogenicrs886040212GRCh37Chr 17, 41256162: 41256162
764BRCA1NM_ 007294.3(BRCA1): c.4197delC (p.Met1400Cysfs)deletionPathogenicrs886040213GRCh37Chr 17, 41234581: 41234581
765BRCA1NM_ 007294.3(BRCA1): c.4205delA (p.His1402Leufs)deletionPathogenicrs886040214GRCh38Chr 17, 43082556: 43082556
766BRCA1NM_ 007294.3(BRCA1): c.4206_ 4207delTA (p.His1402Glnfs)deletionPathogenicrs886040215GRCh38Chr 17, 43082554: 43082555
767BRCA1NM_ 007294.3(BRCA1): c.4216A> T (p.Lys1406Ter)SNVPathogenicrs886040216GRCh37Chr 17, 41234562: 41234562
768BRCA1NM_ 007294.3(BRCA1): c.4218delG (p.Lys1406Asnfs)deletionPathogenicrs886040217GRCh38Chr 17, 43082543: 43082543
769BRCA1NM_ 007294.3(BRCA1): c.4225C> T (p.Gln1409Ter)SNVPathogenicrs886040218GRCh37Chr 17, 41234553: 41234553
770BRCA1NM_ 007294.3(BRCA1): c.4239delA (p.Glu1413Aspfs)deletionPathogenicrs886040219GRCh38Chr 17, 43082522: 43082522
771BRCA1NM_ 007294.3(BRCA1): c.4255G> T (p.Glu1419Ter)SNVPathogenicrs80357309GRCh37Chr 17, 41234523: 41234523
772BRCA1NM_ 007294.3(BRCA1): c.4270C> T (p.Gln1424Ter)SNVPathogenicrs886040220GRCh38Chr 17, 43082491: 43082491
773BRCA1NM_ 007294.3(BRCA1): c.4284_ 4285delCTinsG (p.Ser1428Argfs)indelPathogenicrs886040221GRCh38Chr 17, 43082476: 43082477
774BRCA1NM_ 007294.3(BRCA1): c.4285dupT (p.Tyr1429Leufs)duplicationPathogenicrs80357716GRCh37Chr 17, 41234493: 41234493
775BRCA1NM_ 007294.3(BRCA1): c.4290_ 4296delTTCCATC (p.Ser1431Terfs)deletionPathogenicrs886040222GRCh37Chr 17, 41234482: 41234488
776BRCA1NM_ 007294.3(BRCA1): c.4309delT (p.Ser1437Leufs)deletionPathogenicrs886040223GRCh37Chr 17, 41234469: 41234469
777BRCA1NM_ 007294.3(BRCA1): c.431dupA (p.Asn144Lysfs)duplicationPathogenicrs886040224GRCh38Chr 17, 43104132: 43104132
778BRCA1NM_ 007294.3(BRCA1): c.4342dupA (p.Ser1448Lysfs)duplicationPathogenicrs886040225GRCh37Chr 17, 41234436: 41234436
779BRCA1NM_ 007294.3(BRCA1): c.4349C> G (p.Ser1450Ter)SNVPathogenicrs886040226GRCh37Chr 17, 41234429: 41234429
780BRCA1NM_ 007294.3(BRCA1): c.4364T> G (p.Leu1455Ter)SNVPathogenicrs886040227GRCh38Chr 17, 43076608: 43076608
781BRCA1NM_ 007294.3(BRCA1): c.4375A> T (p.Lys1459Ter)SNVPathogenicrs886040228GRCh38Chr 17, 43076597: 43076597
782BRCA1NM_ 007294.3(BRCA1): c.4397_ 4398insA (p.Ser1466Argfs)insertionPathogenicrs886040229GRCh37Chr 17, 41228591: 41228592
783BRCA1NM_ 007294.3(BRCA1): c.4408G> T (p.Glu1470Ter)SNVPathogenicrs886040230GRCh38Chr 17, 43076564: 43076564
784BRCA1NM_ 007294.3(BRCA1): c.4417delT (p.Ser1473Leufs)deletionPathogenicrs886040231GRCh37Chr 17, 41228572: 41228572
785BRCA1NM_ 007294.3(BRCA1): c.4453_ 4474del22 (p.Thr1485Glufs)deletionPathogenicrs886040232GRCh38Chr 17, 43076498: 43076519
786BRCA1NM_ 007294.3(BRCA1): c.4503C> A (p.Cys1501Ter)SNVPathogenicrs747539984GRCh38Chr 17, 43074503: 43074503
787BRCA1NM_ 007294.3(BRCA1): c.4527C> A (p.Tyr1509Ter)SNVPathogenicrs886040233GRCh38Chr 17, 43074479: 43074479
788BRCA1NM_ 007294.3(BRCA1): c.4566C> A (p.Tyr1522Ter)SNVPathogenicrs886040234GRCh38Chr 17, 43074440: 43074440
789BRCA1NM_ 007294.3(BRCA1): c.4566C> G (p.Tyr1522Ter)SNVPathogenicrs886040234GRCh37Chr 17, 41226457: 41226457
790BRCA1NM_ 007294.3(BRCA1): c.4569_ 4570insCC (p.Ser1524Profs)insertionPathogenicrs886040235GRCh38Chr 17, 43074436: 43074437
791BRCA1NM_ 007294.3(BRCA1): c.4569_ 4572delATCT (p.Ser1524Lysfs)deletionPathogenicrs886040236GRCh37Chr 17, 41226451: 41226454
792BRCA1NM_ 007294.3(BRCA1): c.4573C> T (p.Gln1525Ter)SNVPathogenicrs886040237GRCh37Chr 17, 41226450: 41226450
793BRCA1NM_ 007294.3(BRCA1): c.4591delG (p.Val1531Leufs)deletionPathogenicrs886040238GRCh38Chr 17, 43074415: 43074415
794BRCA1NM_ 007294.3(BRCA1): c.4593dupT (p.Val1532Cysfs)duplicationPathogenicrs886040239GRCh38Chr 17, 43074413: 43074413
795BRCA1NM_ 007294.3(BRCA1): c.4618_ 4621delGAAGinsAAA (p.Glu1540Lysfs)indelPathogenicrs886040240GRCh38Chr 17, 43074385: 43074388
796BRCA1NM_ 007294.3(BRCA1): c.4622_ 4623delAG (p.Glu1541Valfs)deletionPathogenicrs886040241GRCh38Chr 17, 43074383: 43074384
797BRCA1NM_ 007294.3(BRCA1): c.4668dupA (p.Asp1557Argfs)duplicationPathogenicrs886040242GRCh38Chr 17, 43074338: 43074338
798BRCA1NM_ 007294.3(BRCA1): c.4688dupA (p.Tyr1563Terfs)duplicationPathogenicrs886040243GRCh37Chr 17, 41223243: 41223243
799BRCA1NM_ 007294.3(BRCA1): c.4699_ 4708delGGAATCAGCC (p.Gly1567Serfs)deletionPathogenicrs886040244GRCh37Chr 17, 41223223: 41223232
800BRCA1NM_ 007294.3(BRCA1): c.4700_ 4710delGAATCAGCCTCinsA (p.Gly1567Aspfs)indelPathogenicrs886040245GRCh37Chr 17, 41223221: 41223231
801BRCA1NM_ 007294.3(BRCA1): c.4743delA (p.Asp1582Thrfs)deletionPathogenicrs886040246GRCh37Chr 17, 41223188: 41223188
802BRCA1NM_ 007294.3(BRCA1): c.4758_ 4759insA (p.Ser1587Ilefs)insertionPathogenicrs886040247GRCh38Chr 17, 43071155: 43071156
803BRCA1NM_ 007294.3(BRCA1): c.4784delC (p.Ser1595Phefs)deletionPathogenicrs886040248GRCh37Chr 17, 41223147: 41223147
804BRCA1NM_ 007294.3(BRCA1): c.4834delC (p.Gln1612Argfs)deletionPathogenicrs886040249GRCh38Chr 17, 43071080: 43071080
805BRCA1NM_ 007294.3(BRCA1): c.485_ 486dupTG (p.Arg163Terfs)duplicationPathogenicrs886040250GRCh38Chr 17, 43099836: 43099837
806BRCA1NM_ 007294.3(BRCA1): c.4860_ 4941del82 (p.Asp1621Lysfs)deletionPathogenicGRCh38Chr 17, 43070973: 43071054
807BRCA1NM_ 007294.3(BRCA1): c.4875T> A (p.Tyr1625Ter)SNVPathogenicrs886040251GRCh38Chr 17, 43071039: 43071039
808BRCA1NM_ 007294.3(BRCA1): c.4877delA (p.Asn1626Metfs)deletionPathogenicrs886040252GRCh38Chr 17, 43071037: 43071037
809BRCA1NM_ 007294.3(BRCA1): c.4878dupT (p.Ala1627Cysfs)duplicationPathogenicrs886040253GRCh37Chr 17, 41223053: 41223053
810BRCA1NM_ 007294.3(BRCA1): c.4885dupG (p.Glu1629Glyfs)duplicationPathogenicrs886040254GRCh38Chr 17, 43071029: 43071029
811BRCA1NM_ 007294.3(BRCA1): c.4887_ 4893delAGAAAGT (p.Glu1630Terfs)deletionPathogenicrs886040255GRCh37Chr 17, 41223038: 41223044
812BRCA1NM_ 007294.3(BRCA1): c.4891delA (p.Ser1631Valfs)deletionPathogenicrs886040256GRCh37Chr 17, 41223040: 41223040
813BRCA1NM_ 007294.3(BRCA1): c.4921delG (p.Ala1641Leufs)deletionPathogenicrs886040257GRCh37Chr 17, 41223010: 41223010
814BRCA1NM_ 007294.3(BRCA1): c.4987_ 5074del88 (p.Val1665Serfs)deletionPathogenicGRCh38Chr 17, 43067608: 43067695
815BRCA1NM_ 007294.3(BRCA1): c.4995_ 5007dupGTACAAGTTTGCC (p.Arg1670Valfs)duplicationPathogenicrs483353097GRCh38Chr 17, 43067675: 43067687
816BRCA1NM_ 007294.3(BRCA1): c.500_ 501delCA (p.Thr167Lysfs)deletionPathogenicrs886040258GRCh37Chr 17, 41251838: 41251839
817BRCA1NM_ 007294.3(BRCA1): c.5013dupA (p.His1672Thrfs)duplicationPathogenicrs886040259GRCh38Chr 17, 43067669: 43067669
818BRCA1NM_ 007294.3(BRCA1): c.5019delC (p.His1673Glnfs)deletionPathogenicrs886040260GRCh37Chr 17, 41219680: 41219680
819BRCA1NM_ 007294.3(BRCA1): c.5026_ 5027delTT (p.Leu1676Asnfs)deletionPathogenicrs886040261GRCh38Chr 17, 43067655: 43067656
820BRCA1NM_ 007294.3(BRCA1): c.5027delT (p.Leu1676Terfs)deletionPathogenicrs886040262GRCh37Chr 17, 41219672: 41219672
821BRCA1NM_ 007294.3(BRCA1): c.5027T> A (p.Leu1676Ter)SNVPathogenicrs786203754GRCh38Chr 17, 43067655: 43067655
822BRCA1NM_ 007294.3(BRCA1): c.502A> T (p.Lys168Ter)SNVPathogenicrs886040263GRCh37Chr 17, 41251837: 41251837
823BRCA1NM_ 007294.3(BRCA1): c.5030_ 5033dupCTAA (p.Leu1679Terfs)duplicationPathogenicrs483353098GRCh37Chr 17, 41219666: 41219669
824BRCA1NM_ 007294.3(BRCA1): c.5038_ 5041dupATTA (p.Thr1681Asnfs)duplicationPathogenicrs886040264GRCh37Chr 17, 41219658: 41219661
825BRCA1NM_ 007294.3(BRCA1): c.5041_ 5042insTTAA (p.Thr1681Ilefs)insertionPathogenicrs886040264GRCh38Chr 17, 43067640: 43067641
826BRCA1NM_ 007294.3(BRCA1): c.5042delC (p.Thr1681Metfs)deletionPathogenicrs886040265GRCh38Chr 17, 43067640: 43067640
827BRCA1NM_ 007294.3(BRCA1): c.5044_ 5048delGAAGAinsT (p.Glu1682Terfs)indelPathogenicrs886040266GRCh38Chr 17, 43067634: 43067638
828BRCA1NM_ 007294.3(BRCA1): c.5058_ 5059insCAAC (p.Val1687Glnfs)insertionPathogenicrs886040267GRCh38Chr 17, 43067623: 43067624
829BRCA1NM_ 007294.3(BRCA1): c.5065dupA (p.Met1689Asnfs)duplicationPathogenicrs886040268GRCh37Chr 17, 41219634: 41219634
830BRCA1NM_ 007294.3(BRCA1): c.5076delT (p.Asp1692Glufs)deletionPathogenicrs886040269GRCh38Chr 17, 43063950: 43063950
831BRCA1NM_ 007294.3(BRCA1): c.5083_ 5084insG (p.Phe1695Cysfs)insertionPathogenicrs886040270GRCh38Chr 17, 43063942: 43063943
832BRCA1NM_ 007294.3(BRCA1): c.5114_ 5121delTAGGAATT (p.Leu1705Argfs)deletionPathogenicrs886040271GRCh37Chr 17, 41215922: 41215929
833BRCA1NM_ 007294.3(BRCA1): c.5131A> T (p.Lys1711Ter)SNVPathogenicrs886040272GRCh38Chr 17, 43063895: 43063895
834BRCA1NM_ 007294.3(BRCA1): c.5148T> A (p.Tyr1716Ter)SNVPathogenicrs397509230GRCh38Chr 17, 43063878: 43063878
835BRCA1NM_ 007294.3(BRCA1): c.5155dupG (p.Val1719Glyfs)duplicationPathogenicrs886040273GRCh38Chr 17, 43063371: 43063371
836BRCA1NM_ 007294.3(BRCA1): c.5161_ 5165delCAGTC (p.Gln1721Tyrfs)deletionPathogenicrs886040274GRCh37Chr 17, 41215378: 41215382
837BRCA1NM_ 007294.3(BRCA1): c.5161C> T (p.Gln1721Ter)SNVPathogenicrs878854957GRCh37Chr 17, 41215382: 41215382
838BRCA1NM_ 007294.3(BRCA1): c.5163_ 5164insC (p.Ser1722Leufs)insertionPathogenicrs886040275GRCh38Chr 17, 43063362: 43063363
839BRCA1NM_ 007294.3(BRCA1): c.518delC (p.Pro173Leufs)deletionPathogenicrs886040276GRCh37Chr 17, 41251821: 41251821
840BRCA1NM_ 007294.3(BRCA1): c.5208_ 5247del40insTC (p.Arg1737Glnfs)indelPathogenicrs886040277GRCh37Chr 17, 41209099: 41209138
841BRCA1NM_ 007294.3(BRCA1): c.5209dupA (p.Arg1737Lysfs)duplicationPathogenicrs886040278GRCh37Chr 17, 41209137: 41209137
842BRCA1NM_ 007294.3(BRCA1): c.5212G> T (p.Gly1738Ter)SNVPathogenicrs80356937GRCh38Chr 17, 43057117: 43057117
843BRCA1NM_ 007294.3(BRCA1): c.5213delG (p.Gly1738Glufs)deletionPathogenicrs886040279GRCh38Chr 17, 43057116: 43057116
844BRCA1NM_ 007294.3(BRCA1): c.5221_ 5224delGTCA (p.Val1741Metfs)deletionPathogenicrs886040280GRCh37Chr 17, 41209122: 41209125
845BRCA1NM_ 007294.3(BRCA1): c.5230_ 5237delAGAAACCA (p.Arg1744Profs)deletionPathogenicrs886040281GRCh38Chr 17, 43057092: 43057099
846BRCA1NM_ 007294.3(BRCA1): c.5239delC (p.Gln1747Lysfs)deletionPathogenicrs886040282GRCh38Chr 17, 43057090: 43057090
847BRCA1NM_ 007294.3(BRCA1): c.5239dupC (p.Gln1747Profs)duplicationPathogenicrs886040283GRCh38Chr 17, 43057090: 43057090
848BRCA1NM_ 007294.3(BRCA1): c.5267_ 5268insC (p.Gln1756Hisfs)insertionPathogenicrs886040284GRCh37Chr 17, 41209078: 41209079
849BRCA1NM_ 007294.3(BRCA1): c.5282delT (p.Phe1761Serfs)deletionPathogenicrs886040285GRCh37Chr 17, 41203130: 41203130
850BRCA1NM_ 007294.3(BRCA1): c.5299delT (p.Cys1767Valfs)deletionPathogenicrs886040286GRCh37Chr 17, 41203113: 41203113
851BRCA1NM_ 007294.3(BRCA1): c.5300_ 5301delGT (p.Cys1767Leufs)deletionPathogenicrs886040287GRCh37Chr 17, 41203111: 41203112
852BRCA1NM_ 007294.3(BRCA1): c.5301T> A (p.Cys1767Ter)SNVPathogenicrs886040288GRCh37Chr 17, 41203111: 41203111
853BRCA1NM_ 007294.3(BRCA1): c.5302delT (p.Cys1768Alafs)deletionPathogenicrs886040289GRCh37Chr 17, 41203110: 41203110
854BRCA1NM_ 007294.3(BRCA1): c.531delT (p.Val178Serfs)deletionPathogenicrs886040290GRCh38Chr 17, 43099791: 43099791
855BRCA1NM_ 007294.3(BRCA1): c.5341_ 5343delGAAinsTG (p.Glu1781Cysfs)indelPathogenicrs886040291GRCh38Chr 17, 43049184: 43049186
856BRCA1NM_ 007294.3(BRCA1): c.5348delT (p.Met1783Argfs)deletionPathogenicrs886040292GRCh38Chr 17, 43049179: 43049179
857BRCA1NM_ 007294.3(BRCA1): c.5353_ 5354dupCA (p.Gln1785Hisfs)duplicationPathogenicrs886040293GRCh38Chr 17, 43049173: 43049174
858BRCA1NM_ 007294.3(BRCA1): c.5361_ 5362delTG (p.Cys1787Trpfs)deletionPathogenicrs886040294GRCh38Chr 17, 43049165: 43049166
859BRCA1NM_ 007294.3(BRCA1): c.5389dupT (p.Ser1797Phefs)duplicationPathogenicrs886040295GRCh37Chr 17, 41201155: 41201155
860BRCA1NM_ 007294.3(BRCA1): c.5390C> G (p.Ser1797Ter)SNVPathogenicrs879255492GRCh37Chr 17, 41201154: 41201154
861BRCA1NM_ 007294.3(BRCA1): c.5419dupA (p.Ile1807Asnfs)duplicationPathogenicrs886040296GRCh37Chr 17, 41199708: 41199708
862BRCA1NM_ 007294.3(BRCA1): c.5486_ 5510del25 (p.Glu1829Glyfs)deletionPathogenicrs886040297GRCh38Chr 17, 43045760: 43045784
863BRCA1NM_ 007294.3(BRCA1): c.5493_ 5494insTT (p.Val1832Leufs)insertionPathogenicrs886040298GRCh38Chr 17, 43045776: 43045777
864BRCA1NM_ 007294.3(BRCA1): c.5502_ 5503dupCC (p.Arg1835Profs)duplicationPathogenicrs886040299GRCh37Chr 17, 41197784: 41197785
865BRCA1NM_ 007294.3(BRCA1): c.5503_ 5506delCGAG (p.Arg1835Serfs)deletionPathogenicrs886040300GRCh38Chr 17, 43045764: 43045767
866BRCA1NM_ 007294.3(BRCA1): c.5503dupC (p.Arg1835Profs)duplicationPathogenicrs886040299GRCh38Chr 17, 43045767: 43045767
867BRCA1NM_ 007294.3(BRCA1): c.5535C> G (p.Tyr1845Ter)SNVPathogenicrs80356977GRCh38Chr 17, 43045735: 43045735
868BRCA1NM_ 007294.3(BRCA1): c.5536delC (p.Gln1846Serfs)deletionPathogenicrs886040301GRCh38Chr 17, 43045734: 43045734
869BRCA1NM_ 007294.3(BRCA1): c.5537_ 5556del20 (p.Gln1846Leufs)deletionPathogenicrs886040302GRCh37Chr 17, 41197731: 41197750
870BRCA1NM_ 007294.3(BRCA1): c.5542C> T (p.Gln1848Ter)SNVPathogenicrs886040303GRCh38Chr 17, 43045728: 43045728
871BRCA1NM_ 007294.3(BRCA1): c.5551delG (p.Asp1851Thrfs)deletionPathogenicrs886040304GRCh38Chr 17, 43045719: 43045719
872BRCA1NM_ 007294.3(BRCA1): c.5556_ 5560delCTACC (p.Tyr1853Aspfs)deletionPathogenicrs886040305GRCh38Chr 17, 43045710: 43045714
873BRCA1NM_ 007294.3(BRCA1): c.5560delC (p.Leu1854Terfs)deletionPathogenicrs886040306GRCh38Chr 17, 43045710: 43045710
874BRCA1NM_ 007294.3(BRCA1): c.62_ 65delTCTT (p.Ile21Lysfs)deletionPathogenicrs886040307GRCh37Chr 17, 41276049: 41276052
875BRCA1NM_ 007294.3(BRCA1): c.689_ 692delAGAC (p.Glu230Glyfs)deletionPathogenicrs886040308GRCh38Chr 17, 43094839: 43094842
876BRCA1NM_ 007294.3(BRCA1): c.68delA (p.Glu23Glyfs)deletionPathogenicrs886040309GRCh37Chr 17, 41276046: 41276046
877BRCA1NM_ 007294.3(BRCA1): c.69dupG (p.Cys24Valfs)duplicationPathogenicrs80357914GRCh38Chr 17, 43124028: 43124028
878BRCA1NM_ 007294.3(BRCA1): c.704delA (p.Asn235Ilefs)deletionPathogenicrs886040310GRCh38Chr 17, 43094827: 43094827
879BRCA1NM_ 007294.3(BRCA1): c.707delC (p.Thr236Metfs)deletionPathogenicrs886040311GRCh38Chr 17, 43094824: 43094824
880BRCA1NM_ 007294.3(BRCA1): c.71_ 72delGT (p.Cys24Serfs)deletionPathogenicrs886040312GRCh38Chr 17, 43124025: 43124026
881BRCA1NM_ 007294.3(BRCA1): c.718C> T (p.Gln240Ter)SNVPathogenicrs886040313GRCh38Chr 17, 43094813: 43094813
882BRCA1NM_ 007294.3(BRCA1): c.729_ 730insGTAACAAATACTGAACATCATCAACCCAGTA (p.Asn244Valfs)insertionPathogenicrs886040314GRCh37Chr 17, 41246818: 41246819
883BRCA1NM_ 007294.3(BRCA1): c.743_ 744insA (p.Thr249Hisfs)insertionPathogenicrs886040315GRCh37Chr 17, 41246804: 41246805
884BRCA1NM_ 007294.3(BRCA1): c.750_ 751delGA (p.Lys251Alafs)deletionPathogenicrs886040316GRCh37Chr 17, 41246797: 41246798
885BRCA1NM_ 007294.3(BRCA1): c.778_ 779dupAA (p.Tyr261Serfs)duplicationPathogenicrs886040317GRCh38Chr 17, 43094752: 43094753
886BRCA1NM_ 007294.3(BRCA1): c.784delC (p.Gln262Argfs)deletionPathogenicrs886040318GRCh37Chr 17, 41246764: 41246764
887BRCA1NM_ 007294.3(BRCA1): c.788dupG (p.Ser264Terfs)duplicationPathogenicrs886040319GRCh37Chr 17, 41246760: 41246760
888BRCA1NM_ 007294.3(BRCA1): c.807_ 817dupGCATGTGGAGC (p.Pro273Argfs)duplicationPathogenicrs886040320GRCh38Chr 17, 43094714: 43094724
889BRCA1NM_ 007294.3(BRCA1): c.814G> T (p.Glu272Ter)SNVPathogenicrs886040321GRCh38Chr 17, 43094717: 43094717
890BRCA1NM_ 007294.3(BRCA1): c.815_ 816insTCCATGTGGA (p.Glu272Aspfs)insertionPathogenicrs886040322GRCh37Chr 17, 41246732: 41246733
891BRCA1NM_ 007294.3(BRCA1): c.829_ 830delAA (p.Asn277Tyrfs)deletionPathogenicrs886040323GRCh38Chr 17, 43094701: 43094702
892BRCA1NM_ 007294.3(BRCA1): c.829_ 836delAATACTCA (p.Asn277Cysfs)deletionPathogenicrs886040324GRCh38Chr 17, 43094695: 43094702
893BRCA1NM_ 007294.3(BRCA1): c.832dupA (p.Thr278Asnfs)duplicationPathogenicrs886040325GRCh38Chr 17, 43094699: 43094699
894BRCA1NM_ 007294.3(BRCA1): c.861_ 862dupCA (p.Ser288Thrfs)duplicationPathogenicrs886040326GRCh37Chr 17, 41246686: 41246687
895BRCA1NM_ 007294.3(BRCA1): c.862delA (p.Ser288Alafs)deletionPathogenicrs886040327GRCh37Chr 17, 41246686: 41246686
896BRCA1NM_ 007294.3(BRCA1): c.873dupA (p.Leu292Thrfs)duplicationPathogenicrs886040328GRCh37Chr 17, 41246675: 41246675
897BRCA1NM_ 007294.3(BRCA1): c.874delC (p.Leu292Serfs)deletionPathogenicrs886040329GRCh37Chr 17, 41246674: 41246674
898BRCA1NM_ 007294.3(BRCA1): c.898G> T (p.Glu300Ter)SNVPathogenicrs886040330GRCh38Chr 17, 43094633: 43094633
899BRCA1NM_ 007294.3(BRCA1): c.923_ 924delGC (p.Ser308Lysfs)deletionPathogenicrs886040331GRCh38Chr 17, 43094607: 43094608
900BRCA1NM_ 007294.3(BRCA1): c.925A> T (p.Lys309Ter)SNVPathogenicrs879255498GRCh38Chr 17, 43094606: 43094606
901BRCA1NM_ 007294.3(BRCA1): c.93delC (p.Lys32Argfs)deletionPathogenicrs886040332GRCh38Chr 17, 43115767: 43115767
902BRCA1NM_ 007294.3(BRCA1): c.944_ 1007del64 (p.Arg315Lysfs)deletionPathogenicGRCh37Chr 17, 41246541: 41246604
903BRCA1NM_ 007294.3(BRCA1): c.953delA (p.His318Leufs)deletionPathogenicrs886040333GRCh37Chr 17, 41246595: 41246595
904BRCA1NM_ 007294.3(BRCA1): c.958delA (p.Arg320Aspfs)deletionPathogenicrs886040334GRCh37Chr 17, 41246590: 41246590
905BRCA1NM_ 007294.3(BRCA1): c.963G> A (p.Trp321Ter)SNVPathogenicrs886040335GRCh38Chr 17, 43094568: 43094568
906BRCA1NM_ 007294.3(BRCA1): c.966delT (p.Gly323Glufs)deletionPathogenicrs886040336GRCh38Chr 17, 43094565: 43094565
907BRCA1NM_ 007294.3(BRCA1): c.979delA (p.Thr327Hisfs)deletionPathogenicrs886040337GRCh37Chr 17, 41246569: 41246569
908BRCA1NM_ 007294.3(BRCA1): c.98_ 105delAACCTGTC (p.Glu33Valfs)deletionPathogenicrs886040338GRCh37Chr 17, 41267772: 41267779
909BRCA1NM_ 007294.3(BRCA1)insertionPathogenicrs886040895GRCh38Chr 17, 43091801: 43091802
910BRCA1NM_ 007294.3(BRCA1)insertionPathogenicrs886040896GRCh38Chr 17, 43082479: 43082480
911BRCA1NM_ 007294.3(BRCA1): c.117T> G (p.Cys39Trp)SNVPathogenicrs886040898GRCh38Chr 17, 43115743: 43115743
912BRCA1NM_ 007294.3(BRCA1): c.1251_ 1252delTGinsA (p.Asn417Lysfs)indelPathogenicrs886040899GRCh37Chr 17, 41246296: 41246297
913BRCA1NM_ 007294.3(BRCA1): c.134+1G> ASNVPathogenicrs80358043GRCh38Chr 17, 43115725: 43115725
914BRCA1NM_ 007294.3(BRCA1): c.135-?_ 212+?deldeletionPathogenic
915BRCA1NM_ 007294.3(BRCA1): c.135-?_ 301+?deldeletionPathogenic
916BRCA1NM_ 007294.3(BRCA1): c.135-?_ 4185+?deldeletionPathogenic
917BRCA1NM_ 007294.3(BRCA1): c.135-?_ 4484+?deldeletionPathogenic
918BRCA1NM_ 007294.3(BRCA1): c.135-?_ 547+?deldeletionPathogenic
919BRCA1NM_ 007294.3(BRCA1): c.135-?_ 547+?dupduplicationPathogenic
920BRCA1NM_ 007294.3(BRCA1): c.135-?_ 670+?deldeletionPathogenic
921BRCA1NM_ 007294.3(BRCA1): c.1393_ 1394ins10 (p.?)insertionPathogenicrs397508864GRCh37Chr 17, 41246154: 41246155
922BRCA1NM_ 007294.3(BRCA1): c.139T> A (p.Cys47Ser)SNVPathogenicrs80357370GRCh38Chr 17, 43106529: 43106529
923BRCA1NM_ 007294.3(BRCA1): c.1604_ 1612delGAACTAACCins13 (p.?)indelPathogenicrs886040900GRCh37Chr 17, 41245936: 41245944
924BRCA1NG_ 005905.2: g.124095_ 124103delATTACTAATins2indelPathogenicrs886040901GRCh38Chr 17, 43093881: 43093889
925BRCA1NM_ 007294.3(BRCA1): c.-19-2A> GSNVPathogenicrs886040902GRCh38Chr 17, 43124117: 43124117
926BRCA1NM_ 007294.3(BRCA1): c.212G> C (p.Arg71Thr)SNVPathogenicrs80356913GRCh37Chr 17, 41258473: 41258473
927BRCA1NM_ 007294.3(BRCA1): c.213-?_ 441+?deldeletionPathogenic
928BRCA1NM_ 007294.3(BRCA1): c.213-15A> GSNVPathogenicrs886040903GRCh37Chr 17, 41256988: 41256988
929BRCA1NG_ 005905.2: g.125407_ 125411delCCATCins3indelPathogenicrs886040904GRCh38Chr 17, 43092573: 43092577
930BRCA1NM_ 007294.3(BRCA1): c.301+1G> CSNVPathogenicrs587782173GRCh38Chr 17, 43104867: 43104867
931BRCA1NM_ 007294.3(BRCA1): c.302-?_ 593+?deldeletionPathogenic
932BRCA1NG_ 005905.2: g.125502_ 125503ins7insertionPathogenicrs886040905GRCh37Chr 17, 41244498: 41244499
933BRCA1NM_ 007294.3(BRCA1): c.3075_ 3076ins76 (p.?)insertionPathogenicGRCh37Chr 17, 41244472: 41244473
934BRCA1NM_ 007294.3(BRCA1): c.3076_ 3077ins76 (p.?)insertionPathogenicGRCh38Chr 17, 43092454: 43092455
935BRCA1NM_ 007294.3(BRCA1): c.3388_ 3408del21ins16 (p.?)indelPathogenicrs886040906GRCh37Chr 17, 41244140: 41244160
936BRCA1NM_ 007294.3(BRCA1): c.3G> C (p.Met1Ile)SNVPathogenicrs80357475GRCh38Chr 17, 43124094: 43124094
937BRCA1NM_ 007294.3(BRCA1): c.4097-78_ 4185+69deldeletionPathogenicGRCh38Chr 17, 43090875: 43091110
938BRCA1NM_ 007294.3(BRCA1): c.4185+2T> CSNVPathogenicrs431825406GRCh37Chr 17, 41242959: 41242959
939BRCA1NM_ 007294.3(BRCA1): c.4186-?_ 4357+?deldeletionPathogenic
940BRCA1NM_ 007294.3(BRCA1): c.4186-?_ 4484+?deldeletionPathogenic
941BRCA1NM_ 007294.3(BRCA1): c.4186-?_ 5277+?deldeletionPathogenic
942BRCA1NM_ 007294.3(BRCA1): c.4186-1643_ 4357+2020deldeletionPathogenicGRCh38Chr 17, 43080384: 43084218
943BRCA1NM_ 007294.3(BRCA1): c.4186-1787_ 4357+4122dupduplicationPathogenicGRCh38Chr 17, 43078282: 43084362
944BRCA1NM_ 007294.3(BRCA1): c.4186-832_ 4357+1955deldeletionPathogenicGRCh38Chr 17, 43080449: 43083407
945BRCA1NM_ 007294.3(BRCA1): c.4357+1_ 4357+10deldeletionPathogenicrs886040907GRCh38Chr 17, 43082394: 43082403
946BRCA1NM_ 007294.3(BRCA1): c.4358-?_ 4484+?dupduplicationPathogenic
947BRCA1NM_ 007294.3(BRCA1): c.4358-?_ 4986+?deldeletionPathogenic
948BRCA1NM_ 007294.3(BRCA1): c.4358-?_ 4986+?dupduplicationPathogenic
949BRCA1NM_ 007294.3(BRCA1): c.4358-?_ 5074+?deldeletionPathogenic
950BRCA1NM_ 007294.3(BRCA1): c.4358-?_ 5193+?deldeletionPathogenic
951BRCA1NM_ 007294.3(BRCA1): c.438_ 439ins25 (p.?)insertionPathogenicrs886040908GRCh37Chr 17, 41256141: 41256142
952BRCA1NM_ 007294.3(BRCA1): c.442-?_ 4185+?deldeletionPathogenic
953BRCA1NM_ 007294.3(BRCA1): c.442-?_ 5277+?dupduplicationPathogenic
954BRCA1NM_ 007294.3(BRCA1): c.442-?_ 5467+?deldeletionPathogenic
955BRCA1NM_ 007294.3(BRCA1): c.442-?_ 547+?dupduplicationPathogenic
956BRCA1NM_ 007294.3(BRCA1): c.442-?_ 670+?deldeletionPathogenic
957BRCA1NM_ 007294.3(BRCA1): c.442-1129_ 547+223deldeletionPathogenicGRCh38Chr 17, 43099552: 43101009
958BRCA1NM_ 007294.3(BRCA1): c.442-7T> ASNVPathogenicrs886040909GRCh38Chr 17, 43099887: 43099887
959BRCA1NM_ 007294.3(BRCA1): c.442-952_ 547dupduplicationPathogenicGRCh38Chr 17, 43099775: 43100832
960BRCA1NM_ 007294.3(BRCA1): c.4484+1G> TSNVPathogenicrs80358063GRCh38Chr 17, 43076487: 43076487
961BRCA1NM_ 007294.3(BRCA1): c.4484+5G> CSNVPathogenicrs886040910GRCh38Chr 17, 43076483: 43076483
962BRCA1NM_ 007294.3(BRCA1): c.4485-?_ 4675+?dupduplicationPathogenic
963BRCA1NM_ 007294.3(BRCA1): c.4485-?_ 5074+?deldeletionPathogenic
964BRCA1NM_ 007294.3(BRCA1): c.4485-1G> CSNVPathogenicrs80358189GRCh38Chr 17, 43074522: 43074522
965BRCA1NM_ 007294.3(BRCA1): c.4674delA (p.Glu1559Argfs)deletionPathogenicrs886040911GRCh38Chr 17, 43074332: 43074332
966BRCA1NM_ 007294.3(BRCA1): c.4675+1G> CSNVPathogenicrs80358044GRCh38Chr 17, 43074330: 43074330
967BRCA1NM_ 007294.3(BRCA1): c.4675+2T> ASNVPathogenicrs879255293GRCh37Chr 17, 41226346: 41226346
968BRCA1NM_ 007294.3(BRCA1): c.4675+2T> CSNVPathogenicrs879255293GRCh37Chr 17, 41226346: 41226346
969BRCA1NM_ 007294.3(BRCA1): c.4676-?_ 4986+?deldeletionPathogenic
970BRCA1NM_ 007294.3(BRCA1): c.4676-?_ 5193+?deldeletionPathogenic
971BRCA1NM_ 007294.3(BRCA1): c.4676-?_ 5467+?deldeletionPathogenic
972BRCA1NM_ 007294.3(BRCA1): c.4676-1420_ 4986+900deldeletionPathogenicGRCh38Chr 17, 43070028: 43072658
973BRCA1NM_ 007294.3(BRCA1): c.4676-1G> TSNVPathogenicrs80358008GRCh38Chr 17, 43071239: 43071239
974BRCA1NM_ 007294.3(BRCA1): c.4986+1_ 4986+2ins65insertionPathogenicGRCh37Chr 17, 41222943: 41222944
975BRCA1NM_ 007294.3(BRCA1): c.4986+5G> CSNVPathogenicrs397509211GRCh37Chr 17, 41222940: 41222940
976BRCA1NM_ 007294.3(BRCA1): c.4987-?_ 5152+?deldeletionPathogenic
977BRCA1NM_ 007294.3(BRCA1): c.4987-?_ 5277+?deldeletionPathogenic
978BRCA1NM_ 007294.3(BRCA1): c.4987-1G> TSNVPathogenicrs730881495GRCh38Chr 17, 43067696: 43067696
979BRCA1NM_ 007294.3(BRCA1): c.4987-2341_ 5074+2676deldeletionPathogenicGRCh38Chr 17, 43064932: 43070036
980BRCA1NM_ 007294.3(BRCA1): c.4987-2508_ 5074+84deldeletionPathogenicGRCh38Chr 17, 43067524: 43070203
981BRCA1NM_ 007294.3(BRCA1): c.4987-5T> CSNVPathogenicrs397509214GRCh38Chr 17, 43067700: 43067700
982BRCA1NM_ 007294.3(BRCA1): c.4987delA (p.Met1663Cysfs)deletionPathogenicrs886040912GRCh38Chr 17, 43067695: 43067695
983BRCA1NM_ 007294.3(BRCA1): c.5074+1G> CSNVPathogenicrs80358053GRCh38Chr 17, 43067607: 43067607
984BRCA1NM_ 007294.3(BRCA1): c.5075-?_ 5152+?deldeletionPathogenic
985BRCA1NM_ 007294.3(BRCA1): c.5075-?_ 5193+?deldeletionPathogenic
986BRCA1NM_ 007294.3(BRCA1): c.5075-?_ 5193+?dupduplicationPathogenic
987BRCA1NM_ 007294.3(BRCA1): c.5075-?_ 5277+?deldeletionPathogenic
988BRCA1NM_ 007294.3(BRCA1): c.5075-2deldeletionPathogenicrs886040913GRCh38Chr 17, 43063953: 43063953
989BRCA1NM_ 007294.3(BRCA1): c.5077_ 5080delGCTGinsTTGATTCTGC (p.Ala1693_ Glu1694delinsLeuIleLeuGln)indelPathogenicrs397509224GRCh38Chr 17, 43063946: 43063949
990BRCA1NM_ 007294.3(BRCA1): c.5152+2T> ASNVPathogenicrs886040914GRCh38Chr 17, 43063872: 43063872
991BRCA1NM_ 007294.3(BRCA1): c.5153-?_ 5193+?deldeletionPathogenic
992BRCA1NM_ 007294.3(BRCA1): c.5193+2T> GSNVPathogenicrs886040915GRCh38Chr 17, 43063331: 43063331
993BRCA1NM_ 007294.3(BRCA1): c.5194-?_ 5277+?delinsGindelPathogenic
994BRCA1NM_ 007294.3(BRCA1): c.5194-?_ 5277+?dupduplicationPathogenic
995BRCA1NM_ 007294.3(BRCA1): c.5194-1699_ 5277+1996delins236indelPathogenicGRCh37Chr 17, 41207073: 41210851
996BRCA1NM_ 007294.3(BRCA1): c.5194-1730_ 5277+1996delins268indelPathogenicGRCh38Chr 17, 43055056: 43058865
997BRCA1NM_ 007294.3(BRCA1): c.5194-1G> CSNVPathogenicrs80358173GRCh38Chr 17, 43057136: 43057136
998BRCA1NM_ 007294.3(BRCA1): c.5194-1G> TSNVPathogenicrs80358173GRCh38Chr 17, 43057136: 43057136
999BRCA1NM_ 007294.3(BRCA1): c.5194-452_ 5277+3638deldeletionPathogenicGRCh38Chr 17, 43053414: 43057587
1000BRCA1NM_ 007294.3(BRCA1): c.5194-5858_ 5277+2206deldeletionPathogenicGRCh38Chr 17, 43054846: 43062993
1001BRCA1NM_ 007294.3(BRCA1): c.5277+833_ 5277+1671delins141indelPathogenicGRCh38Chr 17, 43055381: 43056219
1002BRCA1NM_ 007294.3(BRCA1): c.5278-?_ 5332+?deldeletionPathogenic
1003BRCA1NM_ 007294.3(BRCA1): c.5278-?_ 5406+?deldeletionPathogenic
1004BRCA1NM_ 007294.3(BRCA1): c.5278-?_ 5406+?dupduplicationPathogenic
1005BRCA1NM_ 007294.3(BRCA1): c.5278-?_ 5467+?dupduplicationPathogenic
1006BRCA1NM_ 007294.3(BRCA1): c.5278-2A> GSNVPathogenicrs397509253GRCh38Chr 17, 43051119: 43051119
1007BRCA1NM_ 007294.3(BRCA1): c.5297T> A (p.Ile1766Asn)SNVPathogenicrs80357463GRCh38Chr 17, 43051098: 43051098
1008BRCA1NM_ 007294.3(BRCA1): c.5311_ 5332+1deldeletionPathogenicrs886040916GRCh38Chr 17, 43051062: 43051084
1009BRCA1NM_ 007294.3(BRCA1): c.5331_ 5332+6delinsCAACATindelPathogenicrs886040917GRCh38Chr 17, 43051057: 43051064
1010BRCA1NM_ 007294.3(BRCA1): c.5332+1G> TSNVPathogenicrs80358041GRCh38Chr 17, 43051062: 43051062
1011BRCA1NM_ 007294.3(BRCA1): c.5332+2T> CSNVPathogenicrs80358182GRCh38Chr 17, 43051061: 43051061
1012BRCA1NM_ 007294.3(BRCA1): c.5333-198_ 5387deldeletionPathogenicGRCh38Chr 17, 43049140: 43049392
1013BRCA1NM_ 007294.3(BRCA1): c.5333-1G> TSNVPathogenicrs80358126GRCh38Chr 17, 43049195: 43049195
1014BRCA1NM_ 007294.3(BRCA1): c.5333-36_ 5406+400deldeletionPathogenicGRCh38Chr 17, 43048721: 43049230
1015BRCA1NM_ 007294.3(BRCA1): c.5407-?_ 5467+?deldeletionPathogenic
1016BRCA1NM_ 007294.3(BRCA1): c.5407-?_ 5467+?dupduplicationPathogenic
1017BRCA1NM_ 007294.3(BRCA1): c.5467+1deldeletionPathogenicrs886040918GRCh38Chr 17, 43047642: 43047642
1018BRCA1NM_ 007294.3(BRCA1): c.5468-11_ 5520dupduplicationPathogenicGRCh37Chr 17, 41197767: 41197830
1019BRCA1NM_ 007294.3(BRCA1): c.5468-2A> TSNVPathogenicrs398122699GRCh37Chr 17, 41197821: 41197821
1020BRCA1NM_ 007294.3(BRCA1): c.547+3A> TSNVPathogenicrs886040919GRCh38Chr 17, 43099772: 43099772
1021BRCA1NM_ 007294.3(BRCA1): c.594-?_ 4484+?deldeletionPathogenic
1022BRCA1NM_ 007294.3(BRCA1): c.626delC (p.Pro209Leufs)deletionPathogenicrs886040920GRCh38Chr 17, 43095890: 43095890
1023BRCA1NM_ 007294.3(BRCA1): c.640delG (p.Asp214Metfs)deletionPathogenicrs886040921GRCh37Chr 17, 41247893: 41247893
1024BRCA1NM_ 007294.3(BRCA1): c.670+1deldeletionPathogenicrs886040922GRCh38Chr 17, 43095845: 43095845
1025BRCA1NM_ 007294.3(BRCA1): c.671-?_ 4185+?deldeletionPathogenic
1026BRCA1NM_ 007294.3(BRCA1): c.671-?_ 4484+?deldeletionPathogenic
1027BRCA1NM_ 007294.3(BRCA1): c.671-?_ 4675+?deldeletionPathogenic
1028BRCA1NM_ 007294.3(BRCA1): c.671-215_ 901deldeletionPathogenicGRCh37Chr 17, 41246647: 41247092
1029BRCA1NM_ 007294.3(BRCA1): c.671-26_ 1781deldeletionPathogenicGRCh38Chr 17, 43093750: 43094886
1030BRCA1NM_ 007294.3(BRCA1): c.671-2A> GSNVPathogenicrs80358108GRCh38Chr 17, 43094862: 43094862
1031BRCA1NM_ 007294.3(BRCA1): c.671-2A> TSNVPathogenicrs80358108GRCh38Chr 17, 43094862: 43094862
1032BRCA1NM_ 007294.3(BRCA1): c.-7620_ 80+468delins8indelPathogenicGRCh37Chr 17, 41275566: 41284888
1033BRCA1NM_ 007294.3(BRCA1): c.80+2T> ASNVPathogenicrs80358128GRCh37Chr 17, 41276032: 41276032
1034BRCA1NM_ 007294.3(BRCA1): c.81-?_ 134+?dupduplicationPathogenic
1035BRCA1NM_ 007294.3(BRCA1): c.81-?_ 4185+?deldeletionPathogenic
1036BRCA1NM_ 007294.3(BRCA1): c.81-?_ 441+?deldeletionPathogenic
1037BRCA1NM_ 007294.3(BRCA1): c.81-?_ 5152+?dupduplicationPathogenic
1038BRCA1NM_ 007294.3(BRCA1): c.81-?_ 5193+?deldeletionPathogenic
1039BRCA1NM_ 007294.3(BRCA1): c.81-?_ 547+?dupduplicationPathogenic
1040BRCA1NM_ 007294.3(BRCA1): c.81-1588_ 134+1725deldeletionPathogenicGRCh37Chr 17, 41266018: 41269384
1041BRCA1NM_ 007294.3(BRCA1): c.134+3_ 134+4insTinsertionPathogenicrs886041002GRCh38Chr 17, 43115722: 43115723
1042BRCA1NM_ 007294.3(BRCA1): c.213-1G> TSNVPathogenicrs80358146GRCh38Chr 17, 43104957: 43104957
1043BRCA1NM_ 007294.3(BRCA1): c.4987-577_ 5074+343deldeletionPathogenicGRCh38Chr 17, 43067265: 43068272
1044BRCA1NM_ 007294.3(BRCA1): c.5307T> G (p.Tyr1769Ter)SNVLikely pathogenicrs397509258GRCh38Chr 17, 43051088: 43051088
1045BRCA1NM_ 007294.3(BRCA1): c.4146C> A (p.Cys1382Ter)SNVLikely pathogenicrs1057517574GRCh37Chr 17, 41243000: 41243000
1046BRCA1NM_ 007294.3(BRCA1): c.5156delT (p.Val1719Glyfs)deletionLikely pathogenicrs1057517590GRCh37Chr 17, 41215387: 41215387
1047BRCA1NM_ 007294.3(BRCA1): c.869T> A (p.Leu290Ter)SNVLikely pathogenicrs730881468GRCh38Chr 17, 43094662: 43094662
1048BRCA1NM_ 007294.3(BRCA1): c.5440dupG (p.Ala1814Glyfs)duplicationLikely pathogenicrs1057517637GRCh38Chr 17, 43047670: 43047670
1049BRCA1NG_ 005905.2: g.133626_ 139705dupduplicationPathogenic
1050BRCA1NG_ 005905.2: g.158009_ 169399del11391deletionPathogenicGRCh37Chr 17, 41200602: 41211992
1051BRCA1NG_ 005905.2: g.163032_ 170685dup7654duplicationPathogenicGRCh38Chr 17, 43047299: 43054952
1052BRCA1NG_ 005905.2: g.110966_ 142550deldeletionPathogenic
1053BRCA1NG_ 005905.2: g.116869_ 123429del6561deletionPathogenicGRCh37Chr 17, 41246572: 41253132
1054BRCA1NG_ 005905.2: g.152940_ 163021dup10082duplicationPathogenicGRCh38Chr 17, 43054963: 43065044
1055BRCA1NG_ 005905.2: g.116321_ 140085deldeletionPathogenic
1056BRCA1NG_ 005905.2: g.96347_ 106508del10162deletionPathogenicGRCh37Chr 17, 41263493: 41273654
1057BRCA1NG_ 005905.2: g.151367_ 156192del4826deletionPathogenicGRCh38Chr 17, 43061792: 43066617
1058BRCA1NG_ 005905.2: g.110447_ 115471del5025deletionPathogenicGRCh38Chr 17, 43102513: 43107537
1059BRCA1NG_ 005905.2: g.110245_ 115469del5225deletionPathogenicGRCh38Chr 17, 43102515: 43107739
1060BRCA1NG_ 005905.2: g.157279_ 161602del4324deletionPathogenicGRCh38Chr 17, 43056382: 43060705
1061BRCA1NG_ 005905.2: g.117282_ 121246del3965deletionPathogenicGRCh38Chr 17, 43096738: 43100702
1062BRCA1NG_ 005905.2: g.169527_ 180579del11053deletionPathogenicGRCh38Chr 17, 43037405: 43048457
1063BRCA1NG_ 005905.2: g.160911_ 164110del3200deletionPathogenicGRCh37Chr 17, 41205891: 41209090
1064BRCA1NG_ 005905.2: g.142345_ 165745del23401deletionPathogenicGRCh38Chr 17, 43052239: 43075639
1065BRCA1NG_ 005905.2: g.126374_ 136783del10410deletionPathogenicGRCh38Chr 17, 43081201: 43091610
1066BRCA1NG_ 005905.2: g.147946_ 153049del5104deletionPathogenicGRCh37Chr 17, 41216952: 41222055
1067BRCA1NG_ 005905.2: g.139641_ 147792dup8152duplicationPathogenicGRCh37Chr 17, 41222209: 41230360
1068BRCA1NG_ 005905.2: g.118449_ 154829deldeletionPathogenic
1069BRCA1NG_ 005905.2: g.148011_ 151127del3117deletionPathogenicGRCh37Chr 17, 41218874: 41221990
1070BRCA1NG_ 005905.2: g.137094_ 142043deldeletionPathogenic
1071BRCA1NG_ 005905.2: g.154259_ 156851del2593insTTTTTTTTTTTTindelPathogenicGRCh38Chr 17, 43061133: 43063725
1072BRCA1NG_ 005905.2: g.152586_ 159830del7245ins27indelPathogenicGRCh38Chr 17, 43058154: 43065398
1073BRCA1NM_ 007294.3: c.-19-48_ 80+248delinsU77841.1: g.2145_ 2536indelPathogenicGRCh37Chr 17, 41275786: 41276180
1074BRCA1NG_ 005905.2: g.61068_ 98138deldeletionPathogenic
1075BRCA1NM_ 007294.3(BRCA1): c.5468-285_ *4016delinsCAindelPathogenicGRCh37Chr 17, 41193679: 41198104
1076BRCA1NG_ 005905.2: g.(?_ 92501)_ (166922_ 168789)deldeletionPathogenicGRCh37Chr 17, 41201212: 41277500
1077BRCA1NM_ 007294.3(BRCA1): c.1016delA (p.Lys339Argfs)deletionPathogenicrs80357618GRCh37Chr 17, 41246532: 41246532
1078BRCA1NG_ 005905.2: g.(102259_ 111450)_ (172307_ ?)deldeletionPathogenicGRCh38Chr 17, 43045677: 43115725
1079BRCA1NG_ 005905.2: g.(?_ 92501)_ (113863_ 118103)deldeletionPathogenicGRCh38Chr 17, 43099881: 43125483
1080BRCA1NG_ 005905.2: g.(150290_ 154032)_ (172307_ ?)deldeletionPathogenicGRCh37Chr 17, 41197694: 41219711
1081BRCA1NG_ 005905.2: g.(?_ 92501)_ (102259_ 111450)deldeletionPathogenicGRCh37Chr 17, 41258551: 41277500
1082BRCA1NG_ 005905.2: g.(?_ 92501)_ (92714_ 93868)deldeletionPathogenicGRCh37Chr 17, 41276133: 41277500
1083BRCA1NG_ 005905.2: g.(147057_ 150288)_ (172307_ ?)deldeletionPathogenicGRCh37Chr 17, 41197694: 41222944
1084BRCA1NG_ 005905.2: g.(92714_ 93868)_ (172307_ ?)deldeletionPathogenicGRCh37Chr 17, 41197694: 41277287
1085BRCA1NG_ 005905.2: g.(154652_ 160848)_ (172307_ ?)deldeletionPathogenicGRCh37Chr 17, 41197694: 41215349
1086BRCA1NG_ 005905.2: g.(168864_ 170280)_ (172307_ ?)deldeletionPathogenicGRCh38Chr 17, 43045677: 43049120
1087BRCA1NM_ 007294.3(BRCA1): c.1018delG (p.Val340Terfs)deletionPathogenicrs80357774GRCh37Chr 17, 41246530: 41246530
1088BRCA1NG_ 005905.2: g.(?_ 92501)_ (154652_ 160848)deldeletionPathogenicGRCh38Chr 17, 43057136: 43125483
1089BRCA1NG_ 005905.2: g.(?_ 92501)_ (170342_ 172181)deldeletionPathogenicGRCh38Chr 17, 43045803: 43125483
1090BRCA1NG_ 005905.2: g.(?_ 92501)_ (160933_ 166866)deldeletionPathogenicGRCh38Chr 17, 43051118: 43125483
1091BRCA1NG_ 005905.2: g.(?_ 92501)_ (141497_ 143462)deldeletionPathogenicGRCh38Chr 17, 43074522: 43125483
1092BRCA1NG_ 005905.2: g.(?_ 92501)_ (172307_ ?)deldeletionPathogenicGRCh37Chr 17, 41197694: 41277500
1093BRCA1NG_ 005905.2: g.(?_ 92501)_ (168862_ 170280)deldeletionPathogenicGRCh38Chr 17, 43047704: 43125483
1094BRCA1NG_ 005905.2: g.(?_ 92501)_ (168862_ 170280)dupduplicationPathogenicGRCh37Chr 17, 41199721: 41277500
1095BRCA1NG_ 005905.2: g.(170342_ 172181)_ (172307_ ?)deldeletionPathogenicGRCh38Chr 17, 43045677: 43047642
1096BRCA1NG_ 005905.2: g.(?_ 92501)_ (93968_ 102204)deldeletionPathogenicGRCh38Chr 17, 43115780: 43125483
1097BRCA1NG_ 005905.2: g.(122139_ 123344)_ (126550_ 126951)dupduplicationPathogenicGRCh38Chr 17, 43091033: 43095845
1098BRCA1NG_ 005905.2: g.(?_ 92501)_ (150377_ 154032)deldeletionPathogenicGRCh38Chr 17, 43063952: 43125483
1099BRCA1NG_ 005905.2: g.(160933_ 166866)_ (172307_ ?)deldeletionPathogenicGRCh37Chr 17, 41197694: 41209068
1100BRCA1NG_ 005905.2: g.(113863_ 118103)_ (172307_ ?)deldeletionPathogenicGRCh38Chr 17, 43045677: 43104121
1101BRCA1NG_ 005905.2: g.(?_ 92501)_ (126550_ 126951)deldeletionPathogenicGRCh38Chr 17, 43091033: 43125483
1102BRCA1NG_ 005905.2: g.(?_ 92501)_ (93968_ 102204)dupduplicationPathogenicGRCh38Chr 17, 43115780: 43125483
1103BRCA1NG_ 005905.2: g.(?_ 92501)_ (127041_ 135408)deldeletionPathogenicGRCh38Chr 17, 43082576: 43125483
1104BRCA1NG_ 005905.2: g.(?_ 92501)_ (135581_ 1441370)deldeletion, HaplotypePathogenicGRCh38Chr 17, 43024295: 43125483
1105BRCA1NM_ 007294.3: c.(671_ 4096)ins(300)insertionPathogenic
1106BRCA1NM_ 007294.3(BRCA1): c.1121delC (p.Thr374Asnfs)deletionPathogenicrs80357612GRCh37Chr 17, 41246427: 41246427
1107BRCA1NM_ 007294.3(BRCA1): c.1175_ 1215del41 (p.Leu392Glnfs)deletionPathogenicrs397507180GRCh37Chr 17, 41246333: 41246373
1108BRCA1NM_ 007294.3(BRCA1): c.1175_ 1216del42 (p.Leu392_ Asn406delinsHis)deletionPathogenicrs397507181GRCh37Chr 17, 41246332: 41246373
1109BRCA1NM_ 007294.3(BRCA1): c.1175_ 1217del43 (p.Leu393Profs)deletionPathogenicrs397507182GRCh37Chr 17, 41246331: 41246373
1110BRCA1NM_ 007294.3(BRCA1): c.1175_ 1218del44 (p.Leu392Argfs)deletionPathogenicrs397507183GRCh37Chr 17, 41246330: 41246373
1111BRCA1NM_ 007294.3(BRCA1): c.134+5G> CSNVLikely pathogenicrs80358038GRCh37Chr 17, 41267738: 41267738
1112BRCA1NM_ 007294.3(BRCA1): c.1340_ 1341insG (p.His448Serfs)insertionPathogenicrs80357597GRCh37Chr 17, 41246207: 41246208
1113BRCA1NM_ 007294.3(BRCA1): c.135-1G> TSNVPathogenicrs80358158GRCh37Chr 17, 41258551: 41258551
1114BRCA1NM_ 007294.3(BRCA1): c.1360_ 1361delAG (p.Ser454Terfs)deletionPathogenicrs80357969GRCh37Chr 17, 41246187: 41246188
1115BRCA1NM_ 007294.3(BRCA1): c.1387_ 1390delAAAAins5indelPathogenicrs397508866GRCh37Chr 17, 41246158: 41246161
1116BRCA1NM_ 007294.3(BRCA1): c.1389_ 1390delAAinsG (p.Thr464Profs)indelPathogenicrs273897659GRCh37Chr 17, 41246158: 41246159
1117BRCA1NM_ 007294.3(BRCA1): c.143delT (p.Met48Serfs)deletionPathogenicrs80357637GRCh37Chr 17, 41258542: 41258542
1118BRCA1NM_ 007294.3(BRCA1): c.1444_ 1447delATTA (p.Ile482Terfs)deletionPathogenicrs80357801GRCh37Chr 17, 41246101: 41246104
1119BRCA1NM_ 007294.3(BRCA1): c.1480C> T (p.Gln494Ter)SNVPathogenicrs80357010GRCh37Chr 17, 41246068: 41246068
1120BRCA1NM_ 007294.3(BRCA1): c.1504_ 1508delTTAAA (p.Leu502Alafs)deletionPathogenicrs80357888GRCh37Chr 17, 41246040: 41246044
1121BRCA1NM_ 007294.3(BRCA1): c.1510delC (p.Arg504Valfs)deletionPathogenicrs80357908GRCh37Chr 17, 41246038: 41246038
1122BRCA1NM_ 007294.3(BRCA1): c.1674delA (p.Gly559Valfs)deletionPathogenicrs80357600GRCh37Chr 17, 41245874: 41245874
1123BRCA1NM_ 007294.3(BRCA1): c.1687C> T (p.Gln563Ter)SNVPathogenicrs80356898GRCh37Chr 17, 41245861: 41245861
1124BRCA1NM_ 007294.3(BRCA1): c.1728dupA (p.Glu577Argfs)duplicationPathogenicrs397507192GRCh37Chr 17, 41245820: 41245820
1125BRCA1NM_ 007294.3(BRCA1): c.1854delG (p.Arg618Serfs)deletionPathogenicrs397507193GRCh37Chr 17, 41245694: 41245694
1126BRCA1NM_ 007294.3(BRCA1): c.1877_ 1878ins4insertionPathogenicrs80357516GRCh37Chr 17, 41245670: 41245671
1127BRCA1NM_ 007294.3(BRCA1): c.1921dupA (p.Ile641Asnfs)duplicationPathogenicrs397507194GRCh37Chr 17, 41245627: 41245627
1128BRCA1NM_ 007294.3(BRCA1): c.1953_ 1956delGAAA (p.Lys653Serfs)deletionPathogenicrs80357526GRCh37Chr 17, 41245592: 41245595
1129BRCA1NM_ 007294.3(BRCA1): c.1960A> T (p.Lys654Ter)SNVPathogenicrs80357355GRCh37Chr 17, 41245588: 41245588
1130BRCA1NM_ 007294.3(BRCA1): c.1961delA (p.Lys654Serfs)deletionPathogenicrs80357522GRCh37Chr 17, 41245587: 41245587
1131BRCA1NM_ 007294.3(BRCA1): c.1972delA (p.Met658Cysfs)deletionPathogenicrs397507195GRCh37Chr 17, 41245576: 41245576
1132BRCA1NM_ 007294.3(BRCA1): c.2071delA (p.Arg691Aspfs)deletionPathogenicrs80357688GRCh37Chr 17, 41245477: 41245477
1133BRCA1NM_ 007294.3(BRCA1): c.2105dupT (p.Leu702Phefs)duplicationPathogenicrs80357880GRCh37Chr 17, 41245443: 41245443
1134BRCA1NM_ 007294.3(BRCA1): c.212+1G> ASNVPathogenicrs80358042GRCh37Chr 17, 41258472: 41258472
1135BRCA1NM_ 007294.3(BRCA1): c.2125_ 2126ins3insertionPathogenicrs80357871GRCh37Chr 17, 41245422: 41245423
1136BRCA1NM_ 007294.3(BRCA1): c.213-11T> GSNVPathogenicrs80358061GRCh37Chr 17, 41256984: 41256984
1137BRCA1NM_ 007294.3(BRCA1): c.213-12A> GSNVPathogenicrs80358163GRCh37Chr 17, 41256985: 41256985
1138BRCA1NM_ 007294.3(BRCA1): c.2138C> G (p.Ser713Ter)SNVPathogenicrs80357233GRCh37Chr 17, 41245410: 41245410
1139BRCA1NM_ 007294.3(BRCA1): c.2158G> T (p.Glu720Ter)SNVPathogenicrs80356875GRCh37Chr 17, 41245390: 41245390
1140BRCA1NM_ 007294.3(BRCA1): c.2210_ 2211delCA (p.Thr737Serfs)deletionPathogenicrs80357654GRCh37Chr 17, 41245337: 41245338
1141BRCA1NM_ 007294.3(BRCA1): c.2214_ 2215insTT (p.Lys739Leufs)duplicationPathogenicrs397507197GRCh37Chr 17, 41245334: 41245335
1142BRCA1NM_ 007294.3(BRCA1): c.2269delG (p.Val757Phefs)deletionPathogenicrs80357583GRCh37Chr 17, 41245279: 41245279
1143BRCA1NM_ 007294.3(BRCA1): c.2299delA (p.Ser767Alafs)deletionPathogenicrs80357786GRCh37Chr 17, 41245249: 41245249
1144BRCA1NM_ 007294.3(BRCA1): c.2411_ 2412delAG (p.Gln804Leufs)deletionPathogenicrs80357664GRCh37Chr 17, 41245136: 41245137
1145BRCA1NM_ 007294.3(BRCA1): c.2424delT (p.Phe808Leufs)deletionPathogenicrs397507200GRCh37Chr 17, 41245124: 41245124
1146BRCA1NM_ 007294.3(BRCA1): c.2433delC (p.Lys812Argfs)deletionPathogenicrs80357524GRCh37Chr 17, 41245115: 41245115
1147BRCA1NM_ 007294.3(BRCA1): c.2457delC (p.Asp821Ilefs)deletionPathogenicrs80357669GRCh37Chr 17, 41245091: 41245091
1148BRCA1NM_ 007294.3(BRCA1): c.2475delC (p.Asp825Glufs)deletionPathogenicrs80357970GRCh37Chr 17, 41245073: 41245073
1149BRCA1NM_ 007294.3(BRCA1): c.2515delC (p.His839Thrfs)deletionPathogenicrs80357607GRCh37Chr 17, 41245033: 41245033
1150BRCA1NM_ 007294.3(BRCA1): c.2563C> T (p.Gln855Ter)SNVPathogenicrs80357131GRCh37Chr 17, 41244985: 41244985
1151BRCA1NM_ 007294.3(BRCA1): c.2603C> G (p.Ser868Ter)SNVPathogenicrs80356925GRCh37Chr 17, 41244945: 41244945
1152BRCA1NM_ 007294.3(BRCA1): c.2635G> T (p.Glu879Ter)SNVPathogenicrs80357251GRCh37Chr 17, 41244913: 41244913
1153BRCA1NM_ 007294.3(BRCA1): c.2677A> T (p.Lys893Ter)SNVPathogenicrs80357170GRCh37Chr 17, 41244871: 41244871
1154BRCA1NM_ 007294.3(BRCA1): c.2679_ 2682delGAAA (p.Lys893Asnfs)deletionPathogenicrs80357596GRCh37Chr 17, 41244866: 41244869
1155BRCA1NM_ 007294.3(BRCA1): c.2706_ 2707dupAT (p.Cys903Tyrfs)duplicationPathogenicrs80357717GRCh37Chr 17, 41244841: 41244842
1156BRCA1NM_ 007294.3(BRCA1): c.2710G> T (p.Glu904Ter)SNVPathogenicrs80357035GRCh37Chr 17, 41244838: 41244838
1157BRCA1NM_ 007294.3(BRCA1): c.2806_ 2809delGATA (p.Asp936Serfs)deletionPathogenicrs80357832GRCh37Chr 17, 41244739: 41244742
1158BRCA1NM_ 007294.3(BRCA1): c.2864_ 2865insT (p.Ser956Ilefs)insertionPathogenicrs397507205GRCh37Chr 17, 41244683: 41244684
1159BRCA1NM_ 007294.3(BRCA1): c.2934T> G (p.Tyr978Ter)SNVPathogenicrs80357115GRCh37Chr 17, 41244614: 41244614
1160BRCA1NM_ 007294.3(BRCA1): c.2981_ 2982delGT (p.Cys994Terfs)deletionPathogenicrs397507207GRCh37Chr 17, 41244566: 41244567
1161BRCA1NM_ 007294.3(BRCA1): c.302-2A> CSNVPathogenicrs80358011GRCh37Chr 17, 41256280: 41256280
1162BRCA1NM_ 007294.3(BRCA1): c.302-3C> GSNVPathogenic/ Likely pathogenicrs80358051GRCh37Chr 17, 41256281: 41256281
1163BRCA1NM_ 007294.3(BRCA1): c.3037_ 3038delGA (p.Glu1013Asnfs)deletionPathogenicrs397507208GRCh37Chr 17, 41244510: 41244511
1164BRCA1NM_ 007294.3(BRCA1): c.3052_ 3053ins5insertionPathogenicrs80357856GRCh37Chr 17, 41244495: 41244496
1165BRCA1NM_ 007294.3(BRCA1): c.3112G> T (p.Glu1038Ter)SNVPathogenicrs80357161GRCh37Chr 17, 41244436: 41244436
1166BRCA1NM_ 007294.3(BRCA1): c.3164_ 3165ins4insertionPathogenicrs587777910GRCh37Chr 17, 41244383: 41244384
1167BRCA1NM_ 007294.3(BRCA1): c.3174delT (p.Asn1059Metfs)deletionPathogenicrs397507210GRCh37Chr 17, 41244374: 41244374
1168BRCA1NM_ 007294.3(BRCA1): c.3228_ 3229delAG (p.Gly1077Alafs)deletionPathogenicrs80357635GRCh37Chr 17, 41244319: 41244320
1169BRCA1NM_ 007294.3(BRCA1): c.329delA (p.Lys110Argfs)deletionPathogenicrs397507214GRCh37Chr 17, 41256251: 41256251
1170BRCA1NM_ 007294.3(BRCA1): c.3331_ 3334delCAAG (p.Gln1111Asnfs)deletionPathogenicrs80357701GRCh37Chr 17, 41244214: 41244217
1171BRCA1NM_ 007294.3(BRCA1): c.3352C> T (p.Gln1118Ter)SNVPathogenicrs397507215GRCh37Chr 17, 41244196: 41244196
1172BRCA1NM_ 007294.3(BRCA1): c.3358_ 3359delGT (p.Val1120Terfs)deletionPathogenicrs80357945GRCh37Chr 17, 41244189: 41244190
1173BRCA1NM_ 007294.3(BRCA1): c.3389C> G (p.Ser1130Ter)SNVPathogenicrs80357405GRCh37Chr 17, 41244159: 41244159
1174BRCA1NM_ 007294.3(BRCA1): c.3400G> T (p.Glu1134Ter)SNVPathogenicrs80357018GRCh37Chr 17, 41244148: 41244148
1175BRCA1NM_ 007294.3(BRCA1): c.3442delG (p.Glu1148Argfs)deletionPathogenicrs80357808GRCh37Chr 17, 41244106: 41244106
1176BRCA1NM_ 007294.3(BRCA1): c.3485delA (p.Asp1162Valfs)deletionPathogenicrs80357509GRCh37Chr 17, 41244063: 41244063
1177BRCA1NM_ 007294.3(BRCA1): c.3503delA (p.Asn1168Metfs)deletionPathogenicrs397507216GRCh38Chr 17, 43092028: 43092028
1178BRCA1NM_ 007294.3(BRCA1): c.3612delA (p.Ala1206Profs)deletionPathogenicrs80357980GRCh37Chr 17, 41243936: 41243936
1179BRCA1NM_ 007294.3(BRCA1): c.3627dupA (p.Glu1210Argfs)duplicationPathogenicrs80357729GRCh37Chr 17, 41243921: 41243921
1180BRCA1NM_ 007294.3(BRCA1): c.3648dupA (p.Ser1217Ilefs)duplicationPathogenicrs80357902GRCh37Chr 17, 41243900: 41243900
1181BRCA1NM_ 007294.3(BRCA1): c.3671_ 3672ins4insertionPathogenicrs80357797GRCh37Chr 17, 41243876: 41243877
1182BRCA1NM_ 007294.3(BRCA1): c.3683delA (p.His1228Profs)deletionPathogenicrs397507217GRCh37Chr 17, 41243865: 41243865
1183BRCA1NM_ 007294.3(BRCA1): c.3689T> G (p.Leu1230Ter)SNVPathogenicrs80357162GRCh37Chr 17, 41243859: 41243859
1184BRCA1NM_ 007294.3(BRCA1): c.3700_ 3704delGTAAA (p.Val1234Glnfs)deletionPathogenicrs80357609GRCh37Chr 17, 41243844: 41243848
1185BRCA1NM_ 007294.3(BRCA1): c.3759_ 3760delTA (p.Lys1254Glufs)deletionPathogenicrs80357520GRCh37Chr 17, 41243788: 41243789
1186BRCA1NM_ 007294.3(BRCA1): c.3764dupA (p.Asn1255Lysfs)duplicationPathogenicrs80357848GRCh37Chr 17, 41243784: 41243784
1187BRCA1NM_ 007294.3(BRCA1): c.3770_ 3771delAG (p.Glu1257Glyfs)deletionPathogenicrs80357579GRCh37Chr 17, 41243777: 41243778
1188BRCA1NM_ 007294.3(BRCA1): c.3771_ 3772delGGinsC (p.Glu1257Aspfs)indelPathogenicrs397507218GRCh37Chr 17, 41243776: 41243777
1189BRCA1NM_ 007294.3(BRCA1): c.3825dupA (p.Leu1276Ilefs)duplicationPathogenicrs397507220GRCh37Chr 17, 41243723: 41243723
1190BRCA1NM_ 007294.3(BRCA1): c.3858_ 3861delTGAG (p.Ser1286Argfs)deletionPathogenicrs80357842GRCh37Chr 17, 41243687: 41243690
1191BRCA1NM_ 007294.3(BRCA1): c.3868A> T (p.Lys1290Ter)SNVPathogenicrs80357254GRCh37Chr 17, 41243680: 41243680
1192BRCA1NM_ 007294.3(BRCA1): c.3937C> T (p.Gln1313Ter)SNVPathogenicrs80357318GRCh37Chr 17, 41243611: 41243611
1193BRCA1NM_ 007294.3(BRCA1): c.3991C> T (p.Gln1331Ter)SNVPathogenicrs397507224GRCh37Chr 17, 41243557: 41243557
1194BRCA1NM_ 007294.3(BRCA1): c.4015G> T (p.Glu1339Ter)SNVPathogenicrs80357021GRCh37Chr 17, 41243533: 41243533
1195BRCA1NM_ 007294.3(BRCA1): c.4035delA (p.Glu1346Lysfs)deletionPathogenicrs80357711GRCh37Chr 17, 41243513: 41243513
1196BRCA1NM_ 007294.3(BRCA1): c.4096+1G> ASNVPathogenic/ Likely pathogenicrs80358178GRCh37Chr 17, 41243451: 41243451
1197BRCA1NM_ 007294.3(BRCA1): c.4097-1G> ASNVPathogenicrs80358070GRCh37Chr 17, 41243050: 41243050
1198BRCA1NM_ 007294.3(BRCA1): c.4116_ 4117delTG (p.Cys1372Terfs)deletionPathogenicrs80357804GRCh37Chr 17, 41243029: 41243030
1199BRCA1NM_ 007294.3(BRCA1): c.4117G> T (p.Glu1373Ter)SNVPathogenicrs80357259GRCh37Chr 17, 41243029: 41243029
1200BRCA1NM_ 007294.3(BRCA1): c.4120_ 4121delAG (p.Ser1374Terfs)deletionPathogenicrs80357787GRCh37Chr 17, 41243025: 41243026
1201BRCA1NM_ 007294.3(BRCA1): c.4148C> G (p.Ser1383Ter)SNVPathogenicrs80357071GRCh37Chr 17, 41242998: 41242998
1202BRCA1NM_ 007294.3(BRCA1): c.4185+2_ 4185+22del21insAindelPathogenicrs273900724GRCh37Chr 17, 41242939: 41242959
1203BRCA1NM_ 007294.3(BRCA1): c.4243delG (p.Glu1415Lysfs)deletionPathogenicrs80357981GRCh37Chr 17, 41234535: 41234535
1204BRCA1NM_ 007294.3(BRCA1): c.4251_ 4252delGT (p.Leu1418Argfs)deletionPathogenicrs80357977GRCh37Chr 17, 41234526: 41234527
1205BRCA1NM_ 007294.3(BRCA1): c.427G> T (p.Glu143Ter)SNVPathogenicrs80356991GRCh37Chr 17, 41256153: 41256153
1206BRCA1NM_ 007294.3(BRCA1): c.4357+1G> ASNVPathogenicrs80358027GRCh37Chr 17, 41234420: 41234420
1207BRCA1NM_ 007294.3(BRCA1): c.4387delT (p.Tyr1463Thrfs)deletionPathogenicrs397507229GRCh37Chr 17, 41228602: 41228602
1208BRCA1NM_ 007294.3(BRCA1): c.4388_ 4389ins7insertionPathogenicrs587777911GRCh37Chr 17, 41228600: 41228601
1209BRCA1NM_ 007294.3(BRCA1): c.4391_ 4393delCTAinsTT (p.Pro1464Leufs)indelPathogenicrs273900730GRCh37Chr 17, 41228596: 41228598
1210BRCA1NM_ 007294.3(BRCA1): c.4391delC (p.Pro1464Leufs)deletionPathogenicrs80357916GRCh37Chr 17, 41228598: 41228598
1211BRCA1NM_ 007294.3(BRCA1): c.4393delA (p.Ile1465Terfs)deletionPathogenicrs397507230GRCh37Chr 17, 41228596: 41228596
1212BRCA1NM_ 007294.3(BRCA1): c.4427dupA (p.Phe1477Valfs)duplicationPathogenicrs397507231GRCh37Chr 17, 41228562: 41228562
1213BRCA1NM_ 007294.3(BRCA1): c.4482_ 4483delAA (p.Arg1495Valfs)deletionPathogenicrs80357854GRCh37Chr 17, 41228506: 41228507
1214BRCA1NM_ 007294.3(BRCA1): c.4484+1G> ASNVPathogenicrs80358063GRCh37Chr 17, 41228504: 41228504
1215BRCA1NM_ 007294.3(BRCA1): c.4484G> T (p.Arg1495Met)SNVPathogenicrs80357389GRCh37Chr 17, 41228505: 41228505
1216BRCA1NM_ 007294.3(BRCA1): c.466dupC (p.Leu156Profs)duplicationPathogenicrs397507236GRCh37Chr 17, 41251873: 41251873
1217BRCA1NM_ 007294.3(BRCA1): c.4675G> A (p.Glu1559Lys)SNVPathogenic/ Likely pathogenicrs80356988GRCh37Chr 17, 41226348: 41226348
1218BRCA1NM_ 007294.3(BRCA1): c.4675G> C (p.Glu1559Gln)SNVPathogenic/ Likely pathogenicrs80356988GRCh37Chr 17, 41226348: 41226348
1219BRCA1NM_ 007294.3(BRCA1): c.4689C> G (p.Tyr1563Ter)SNVPathogenicrs80357433GRCh37Chr 17, 41223242: 41223242
1220BRCA1NM_ 007294.3(BRCA1): c.470_ 471delCT (p.Ser157Terfs)deletionPathogenicrs80357887GRCh37Chr 17, 41251868: 41251869
1221BRCA1NM_ 007294.3(BRCA1): c.4749_ 4750delAG (p.Arg1583Serfs)deletionPathogenicrs80357641GRCh37Chr 17, 41223181: 41223182
1222BRCA1NM_ 007294.3(BRCA1): c.4775_ 4779delACATAinsC (p.Asn1592Thrfs)indelPathogenicrs397507237GRCh37Chr 17, 41223152: 41223156
1223BRCA1NM_ 007294.3(BRCA1): c.4964_ 4982del19 (p.Ser1655Tyrfs)deletionPathogenicrs80359876GRCh37Chr 17, 41222949: 41222967
1224BRCA1NM_ 007294.3(BRCA1): c.4986+1G> TSNVPathogenicrs80358162GRCh37Chr 17, 41222944: 41222944
1225BRCA1NM_ 007294.3(BRCA1): c.4986+4A> CSNVPathogenic/ Likely pathogenicrs80358087GRCh37Chr 17, 41222941: 41222941
1226BRCA1NM_ 007294.3(BRCA1): c.4986+6T> CSNVPathogenic/ Likely pathogenicrs80358086GRCh37Chr 17, 41222939: 41222939
1227BRCA1NM_ 007294.3(BRCA1): c.5030_ 5033delCTAA (p.Thr1677Ilefs)deletionPathogenicrs80357580GRCh37Chr 17, 41219666: 41219669
1228BRCA1NM_ 007294.3(BRCA1): c.5035_ 5039delCTAAT (p.Leu1679Tyrfs)deletionPathogenicrs80357623GRCh37Chr 17, 41219660: 41219664
1229BRCA1NM_ 007294.3(BRCA1): c.5068A> T (p.Lys1690Ter)SNVPathogenicrs397507239GRCh37Chr 17, 41219631: 41219631
1230BRCA1NM_ 007294.3(BRCA1): c.5074+1G> ASNVPathogenicrs80358053GRCh37Chr 17, 41219624: 41219624
1231BRCA1NM_ 007294.3(BRCA1): c.5074+1G> TSNVPathogenic/ Likely pathogenicrs80358053GRCh37Chr 17, 41219624: 41219624
1232BRCA1NM_ 007294.3(BRCA1): c.5074+2T> CSNVPathogenic/ Likely pathogenicrs80358089GRCh37Chr 17, 41219623: 41219623
1233BRCA1NM_ 007294.3(BRCA1): c.5074G> A (p.Asp1692Asn)SNVPathogenic/ Likely pathogenicrs80187739GRCh37Chr 17, 41219625: 41219625
1234BRCA1NM_ 007294.3(BRCA1): c.5074G> C (p.Asp1692His)SNVPathogenic/ Likely pathogenicrs80187739GRCh37Chr 17, 41219625: 41219625
1235BRCA1NM_ 007294.3(BRCA1): c.5117G> A (p.Gly1706Glu)SNVPathogenicrs80356860GRCh37Chr 17, 41215926: 41215926
1236BRCA1NM_ 007294.3(BRCA1): c.5152+1G> CSNVPathogenicrs80358094GRCh37Chr 17, 41215890: 41215890
1237BRCA1NM_ 007294.3(BRCA1): c.5153-1G> CSNVPathogenicrs80358137GRCh37Chr 17, 41215391: 41215391
1238BRCA1NM_ 007294.3(BRCA1): c.5177_ 5180delGAAA (p.Arg1726Lysfs)deletionPathogenicrs80357867GRCh37Chr 17, 41215363: 41215366
1239BRCA1NM_ 007294.3(BRCA1): c.5179A> T (p.Lys1727Ter)SNVPathogenicrs80357347GRCh37Chr 17, 41215364: 41215364
1240BRCA1NM_ 007294.3(BRCA1): c.5194-2A> GSNVPathogenic/ Likely pathogenicrs80358069GRCh37Chr 17, 41209154: 41209154
1241BRCA1NM_ 007294.3(BRCA1): c.5232_ 5238delAAACCACins12 (p.?)indelPathogenicrs483353071GRCh37Chr 17, 41209108: 41209114
1242BRCA1NM_ 007294.3(BRCA1): c.5259delA (p.Glu1754Asnfs)deletionPathogenicrs80357925GRCh37Chr 17, 41209087: 41209087
1243BRCA1NM_ 007294.3(BRCA1): c.5277+1G> ASNVPathogenicrs80358150GRCh37Chr 17, 41209068: 41209068
1244BRCA1NM_ 007294.3(BRCA1): c.5289dupG (p.Leu1764Alafs)duplicationPathogenicrs80357886GRCh37Chr 17, 41203123: 41203123
1245BRCA1NM_ 007294.3(BRCA1): c.5297T> G (p.Ile1766Ser)SNVPathogenicrs80357463GRCh37Chr 17, 41203115: 41203115
1246BRCA1NM_ 007294.3(BRCA1): c.5335delC (p.Gln1779Asnfs)deletionPathogenicrs80357590GRCh37Chr 17, 41201209: 41201209
1247BRCA1NM_ 007294.3(BRCA1): c.5346G> A (p.Trp1782Ter)SNVPathogenicrs80357284GRCh37Chr 17, 41201198: 41201198
1248BRCA1NM_ 007294.3(BRCA1): c.5363G> T (p.Gly1788Val)SNVPathogenicrs80357069GRCh37Chr 17, 41201181: 41201181
1249BRCA1NM_ 007294.3(BRCA1): c.5386delT (p.Ser1796Hisfs)deletionPathogenicrs397507249GRCh37Chr 17, 41201158: 41201158
1250BRCA1NM_ 007294.3(BRCA1): c.5387C> A (p.Ser1796Ter)SNVPathogenicrs80357055GRCh37Chr 17, 41201157: 41201157
1251BRCA1NM_ 007294.3(BRCA1): c.5406+1G> ASNVPathogenicrs80358028GRCh37Chr 17, 41201137: 41201137
1252BRCA1NM_ 007294.3(BRCA1): c.5417delC (p.Pro1806Glnfs)deletionPathogenicrs80357558GRCh37Chr 17, 41199710: 41199710
1253BRCA1NM_ 007294.3(BRCA1): c.5467+1G> ASNVPathogenic/ Likely pathogenicrs80358145GRCh37Chr 17, 41199659: 41199659
1254BRCA1NM_ 007294.3(BRCA1): c.547+2T> ASNVPathogenicrs80358047GRCh37Chr 17, 41251790: 41251790
1255BRCA1NM_ 007294.3(BRCA1): c.66dupA (p.Glu23Argfs)duplicationPathogenicrs80357783GRCh37Chr 17, 41276048: 41276048
1256BRCA1NM_ 007294.3(BRCA1): c.676delT (p.Cys226Valfs)deletionPathogenicrs80357941GRCh37Chr 17, 41246872: 41246872
1257BRCA1NM_ 007294.3(BRCA1): c.697_ 698delGT (p.Val233Asnfs)deletionPathogenicrs80357747GRCh37Chr 17, 41246850: 41246851
1258BRCA1NM_ 007294.3(BRCA1): c.783T> G (p.Tyr261Ter)SNVPathogenicrs80357321GRCh37Chr 17, 41246765: 41246765
1259BRCA1NM_ 007294.3(BRCA1): c.798_ 799delTT (p.Ser267Lysfs)deletionPathogenicrs80357724GRCh37Chr 17, 41246749: 41246750
1260BRCA1NM_ 007294.3(BRCA1): c.824_ 825ins10 (p.?)insertionPathogenicrs387906563GRCh37Chr 17, 41246723: 41246724
1261BRCA1NM_ 007294.3(BRCA1): c.85G> T (p.Glu29Ter)SNVPathogenicrs80357443GRCh37Chr 17, 41267792: 41267792
1262BRCA1NM_ 007294.3(BRCA1): c.929delA (p.Gln310Argfs)deletionPathogenicrs80357844GRCh37Chr 17, 41246619: 41246619
1263BRCA1NM_ 007294.3(BRCA1): c.952_ 1015del64 (p.His318Argfs)deletionPathogenicrs80359872GRCh37Chr 17, 41246533: 41246596
1264BRCA1NM_ 007294.3(BRCA1): c.962G> A (p.Trp321Ter)SNVPathogenicrs80357292GRCh37Chr 17, 41246586: 41246586
1265BRCA2NM_ 000059.3(BRCA2): c.5035delA (p.Thr1679Leufs)deletionPathogenicrs80359477GRCh37Chr 13, 32913527: 32913527
1266BRCA2NM_ 000059.3(BRCA2): c.8297delC (p.Thr2766Asnfs)deletionPathogenicrs80359705GRCh37Chr 13, 32937636: 32937636
1267BRCA2NM_ 000059.3(BRCA2): c.9097dupA (p.Thr3033Asnfs)duplicationPathogenicrs397507419GRCh37Chr 13, 32954030: 32954030
1268BRCA2NM_ 000059.3(BRCA2): c.9294C> G (p.Tyr3098Ter)SNVPathogenicrs80359200GRCh37Chr 13, 32968863: 32968863
1269BRCA2NM_ 000059.3(BRCA2): c.9435_ 9436delGT (p.Ser3147Cysfs)deletionPathogenicrs80359763GRCh37Chr 13, 32969004: 32969005
1270BRCA1NM_ 007294.3(BRCA1): c.4972delA (p.Thr1658Profs)deletionPathogenicrs1060505044GRCh38Chr 17, 43070942: 43070942
1271BRCA1NM_ 007294.3(BRCA1): c.2185G> T (p.Glu729Ter)SNVPathogenicrs876659852GRCh37Chr 17, 41245363: 41245363
1272BRCA1NM_ 007294.3(BRCA1): c.1287delA (p.Ile429Metfs)deletionPathogenicrs1060505045GRCh37Chr 17, 41246261: 41246261
1273BRCA1NM_ 007294.3(BRCA1): c.1674dupA (p.Gly559Argfs)duplicationPathogenicGRCh37Chr 17, 41245874: 41245874
1274BRCA1NM_ 007294.3(BRCA1): c.3835delG (p.Ala1279Hisfs)deletionPathogenicrs1060505047GRCh37Chr 17, 41243713: 41243713
1275BRCA1NM_ 007294.3(BRCA1): c.5534delA (p.Tyr1845Serfs)deletionPathogenicrs1060505048GRCh37Chr 17, 41197753: 41197753
1276BRCA1NM_ 007294.3(BRCA1): c.445G> T (p.Glu149Ter)SNVPathogenicrs876658381GRCh37Chr 17, 41251894: 41251894
1277BRCA1NM_ 007294.3(BRCA1): c.2257dupA (p.Ser753Lysfs)duplicationPathogenicGRCh37Chr 17, 41245291: 41245291
1278BRCA1NM_ 007294.3(BRCA1): c.1434_ 1435delTG (p.Glu479Lysfs)deletionPathogenicrs1060505050GRCh37Chr 17, 41246113: 41246114
1279BRCA1NM_ 007294.3(BRCA1): c.3644_ 3648delACTTA (p.Asn1215Ilefs)deletionPathogenicrs1060505051GRCh37Chr 17, 41243900: 41243904
1280BRCA1NM_ 007294.3(BRCA1): c.5309G> T (p.Gly1770Val)SNVLikely pathogenicrs863224765GRCh38Chr 17, 43051086: 43051086
1281BRCA1NM_ 007294.3(BRCA1): c.510delG (p.Ile171Tyrfs)deletionPathogenicrs1060505052GRCh37Chr 17, 41251829: 41251829
1282BRCA1NM_ 007294.3(BRCA1): c.457_ 458ins21 (p.?)insertionPathogenicrs1060505053GRCh37Chr 17, 41251881: 41251882
1283BRCA1NM_ 007300.3(BRCA1): c.1731dup (p.Ser578Ilefs)duplicationPathogenicGRCh37Chr 17, 41245817: 41245817
1284BRCA2NM_ 000059.3(BRCA2): c.5130_ 5133delTGTA (p.Tyr1710Terfs)deletionPathogenicrs80359484GRCh37Chr 13, 32913622: 32913625
1285BRCA2NM_ 000059.3(BRCA2): c.7558C> T (p.Arg2520Ter)SNVPathogenicrs80358981GRCh37Chr 13, 32930687: 32930687
1286BRCA2NM_ 000059.3(BRCA2): c.8009C> T (p.Ser2670Leu)SNVPathogenic/ Likely pathogenicrs80359035GRCh37Chr 13, 32937348: 32937348
1287BRCA2NM_ 000059.3(BRCA2): c.9154C> T (p.Arg3052Trp)SNVPathogenicrs45580035GRCh37Chr 13, 32954180: 32954180
1288BRCA1NM_ 007294.3(BRCA1): c.1008dupA (p.Glu337Argfs)duplicationPathogenicrs67284603GRCh37Chr 17, 41246540: 41246540
1289BRCA1NM_ 007294.3(BRCA1): c.1012A> T (p.Lys338Ter)SNVPathogenicrs397508826GRCh37Chr 17, 41246536: 41246536
1290BRCA1NM_ 007294.3(BRCA1): c.1011dupA (p.Val340Glyfs)duplicationPathogenicrs80357569GRCh37Chr 17, 41246532: 41246532
1291BRCA1NM_ 007294.3(BRCA1): c.101delC (p.Pro34Leufs)deletionPathogenicrs80357750GRCh37Chr 17, 41267776: 41267776
1292BRCA1NM_ 007294.3(BRCA1): c.1039_ 1040delCT (p.Leu347Valfs)deletionPathogenicrs397508827GRCh37Chr 17, 41246508: 41246509
1293BRCA1NM_ 007294.3(BRCA1): c.1045G> T (p.Glu349Ter)SNVPathogenicrs80357338GRCh37Chr 17, 41246503: 41246503
1294BRCA1NM_ 007294.3(BRCA1): c.1054G> T (p.Glu352Ter)SNVPathogenicrs80357472GRCh37Chr 17, 41246494: 41246494
1295BRCA1NM_ 007294.3(BRCA1): c.1058G> A (p.Trp353Ter)SNVPathogenicrs80356908GRCh37Chr 17, 41246490: 41246490
1296BRCA1NM_ 007294.3(BRCA1): c.1059G> A (p.Trp353Ter)SNVPathogenicrs80356935GRCh37Chr 17, 41246489: 41246489
1297BRCA1NM_ 007294.3(BRCA1): c.1066C> T (p.Gln356Ter)SNVPathogenicrs80357215GRCh37Chr 17, 41246482: 41246482
1298BRCA1NM_ 007294.3(BRCA1): c.1067delA (p.Gln356Argfs)deletionPathogenicrs80357796GRCh37Chr 17, 41246481: 41246481
1299BRCA1NM_ 007294.3(BRCA1): c.1068_ 1077delGAAACTGCCA (p.Gln356Hisfs)deletionPathogenicrs397508830GRCh37Chr 17, 41246471: 41246480
1300BRCA1NM_ 007294.3(BRCA1): c.1072delC (p.Leu358Cysfs)deletionPathogenicrs80357836GRCh37Chr 17, 41246476: 41246476
1301BRCA1NM_ 007294.3(BRCA1): c.1082C> G (p.Ser361Ter)SNVPathogenicrs397508833GRCh37Chr 17, 41246466: 41246466
1302BRCA1NM_ 007294.3(BRCA1): c.1082_ 1092delCAGAGAATCCT (p.Ser361Terfs)deletionPathogenicrs80359880GRCh37Chr 17, 41246456: 41246466
1303BRCA1NM_ 007294.3(BRCA1): c.1086_ 1087delGA (p.Asn363Serfs)deletionPathogenicrs80357897GRCh37Chr 17, 41246461: 41246462
1304BRCA1NM_ 007294.3(BRCA1): c.1088delA (p.Asn363Ilefs)deletionPathogenicrs80357954GRCh37Chr 17, 41246460: 41246460
1305BRCA1NM_ 007294.3(BRCA1): c.1091delC (p.Pro364Leufs)deletionPathogenicrs397508834GRCh37Chr 17, 41246457: 41246457
1306BRCA1NM_ 007294.3(BRCA1): c.1102G> T (p.Glu368Ter)SNVPathogenicrs80357139GRCh37Chr 17, 41246446: 41246446
1307BRCA1NM_ 007294.3(BRCA1): c.110C> A (p.Thr37Lys)SNVPathogenicrs80356880GRCh37Chr 17, 41267767: 41267767
1308BRCA1NM_ 007294.3(BRCA1): c.1115G> A (p.Trp372Ter)SNVPathogenicrs397508838GRCh37Chr 17, 41246433: 41246433
1309BRCA1NM_ 007294.3(BRCA1): c.1116G> A (p.Trp372Ter)SNVPathogenicrs80357468GRCh37Chr 17, 41246432: 41246432
1310BRCA1NM_ 007294.3(BRCA1): c.1121_ 1123delCACinsT (p.Thr374Ilefs)indelPathogenicrs273897652GRCh37Chr 17, 41246425: 41246427
1311BRCA1NM_ 007294.3(BRCA1): c.1127delA (p.Asn376Ilefs)deletionPathogenicrs80357821GRCh37Chr 17, 41246421: 41246421
1312BRCA1NM_ 007294.3(BRCA1): c.112_ 113delAA (p.Lys38Valfs)deletionPathogenicrs80357949GRCh37Chr 17, 41267764: 41267765
1313BRCA1NM_ 007294.3(BRCA1): c.1138C> T (p.Gln380Ter)SNVPathogenicrs397508840GRCh37Chr 17, 41246410: 41246410
1314BRCA1NM_ 007294.3(BRCA1): c.1141A> T (p.Lys381Ter)SNVPathogenicrs80357385GRCh37Chr 17, 41246407: 41246407
1315BRCA1NM_ 007294.3(BRCA1): c.1152dupG (p.Trp385Valfs)duplicationPathogenicrs397508841GRCh37Chr 17, 41246396: 41246396
1316BRCA1NM_ 007294.3(BRCA1): c.115T> C (p.Cys39Arg)SNVPathogenicrs80357164GRCh37Chr 17, 41267762: 41267762
1317BRCA1NM_ 007294.3(BRCA1): c.115T> G (p.Cys39Gly)SNVPathogenic/ Likely pathogenicrs80357164GRCh37Chr 17, 41267762: 41267762
1318BRCA1NM_ 007294.3(BRCA1): c.1165delA (p.Ser389Valfs)deletionPathogenicrs80357985GRCh37Chr 17, 41246383: 41246383
1319BRCA1NM_ 007294.3(BRCA1): c.1166delG (p.Ser389Metfs)deletionPathogenicrs273897653GRCh37Chr 17, 41246382: 41246382
1320BRCA1NM_ 007294.3(BRCA1): c.117_ 118delTG (p.Cys39Terfs)deletionPathogenicrs80357972GRCh37Chr 17, 41267759: 41267760
1321BRCA1NM_ 007294.3(BRCA1): c.1188delT (p.Asp396Glufs)deletionPathogenicrs397508845GRCh37Chr 17, 41246360: 41246360
1322BRCA1NM_ 007294.3(BRCA1): c.1193C> G (p.Ser398Ter)SNVPathogenicrs80357068GRCh37Chr 17, 41246355: 41246355
1323BRCA1NM_ 007294.3(BRCA1): c.1204G> T (p.Glu402Ter)SNVPathogenicrs273897655GRCh37Chr 17, 41246344: 41246344
1324BRCA1NM_ 007294.3(BRCA1): c.1204delG (p.Glu402Serfs)deletionPathogenicrs80357859GRCh37Chr 17, 41246344: 41246344
1325BRCA1NM_ 007294.3(BRCA1): c.1214C> A (p.Ser405Ter)SNVPathogenicrs80357481GRCh37Chr 17, 41246334: 41246334
1326BRCA1NM_ 007294.3(BRCA1): c.122A> G (p.His41Arg)SNVPathogenicrs80357276GRCh37Chr 17, 41267755: 41267755
1327BRCA1NM_ 007294.3(BRCA1): c.1232_ 1233delAT (p.Asp411Glyfs)deletionPathogenicrs397508848GRCh37Chr 17, 41246315: 41246316
1328BRCA1NM_ 007294.3(BRCA1): c.1240_ 1246delGACGTTC (p.Asp414Terfs)deletionPathogenicrs80357964GRCh37Chr 17, 41246302: 41246308
1329BRCA1NM_ 007294.3(BRCA1): c.1241dupA (p.Asp414Glufs)duplicationPathogenicrs80357514GRCh37Chr 17, 41246307: 41246307
1330BRCA1NM_ 007294.3(BRCA1): c.124delA (p.Ile42Tyrfs)deletionPathogenicrs80357943GRCh37Chr 17, 41267753: 41267753
1331BRCA1NM_ 007294.3(BRCA1): c.1252G> T (p.Glu418Ter)SNVPathogenicrs80357083GRCh37Chr 17, 41246296: 41246296
1332BRCA1NM_ 007294.3(BRCA1): c.1255delG (p.Val419Terfs)deletionPathogenicrs80357535GRCh37Chr 17, 41246293: 41246293
1333BRCA1NM_ 007294.3(BRCA1): c.1265dupA (p.Tyr422Terfs)duplicationPathogenicrs80357809GRCh37Chr 17, 41246283: 41246283
1334BRCA1NM_ 007294.3(BRCA1): c.1266T> G (p.Tyr422Ter)SNVPathogenicrs80357417GRCh37Chr 17, 41246282: 41246282
1335BRCA1NM_ 007294.3(BRCA1): c.1276delT (p.Ser426Glnfs)deletionPathogenicrs80357766GRCh37Chr 17, 41246272: 41246272
1336BRCA1NM_ 007294.3(BRCA1): c.1287dupA (p.Asp430Argfs)duplicationPathogenicrs80357576GRCh37Chr 17, 41246261: 41246261
1337BRCA1NM_ 007294.3(BRCA1): c.1292T> G (p.Leu431Ter)SNVPathogenicrs80357346GRCh37Chr 17, 41246256: 41246256
1338BRCA1NM_ 007294.3(BRCA1): c.1292dupT (p.Leu431Phefs)duplicationPathogenicrs80357528GRCh37Chr 17, 41246256: 41246256
1339BRCA1NM_ 007294.3(BRCA1): c.1297delG (p.Ala433Profs)deletionPathogenicrs80357794GRCh37Chr 17, 41246251: 41246251
1340BRCA1NM_ 007294.3(BRCA1): c.130T> A (p.Cys44Ser)SNVPathogenicrs80357327GRCh37Chr 17, 41267747: 41267747
1341BRCA1NM_ 007294.3(BRCA1): c.130delT (p.Cys44Alafs)deletionPathogenicrs80357951GRCh37Chr 17, 41267747: 41267747
1342BRCA1NM_ 007294.3(BRCA1): c.1319delT (p.Leu440Terfs)deletionPathogenicrs80357683GRCh37Chr 17, 41246229: 41246229
1343BRCA1NM_ 007294.3(BRCA1): c.131G> A (p.Cys44Tyr)SNVPathogenicrs80357446GRCh37Chr 17, 41267746: 41267746
1344BRCA1NM_ 007294.3(BRCA1): c.1323_ 1324delAT (p.Ile441Metfs)deletionPathogenicrs80357570GRCh37Chr 17, 41246224: 41246225
1345BRCA1NM_ 007294.3(BRCA1): c.1326T> A (p.Cys442Ter)SNVPathogenicrs397508854GRCh37Chr 17, 41246222: 41246222
1346BRCA1NM_ 007294.3(BRCA1): c.1333G> T (p.Glu445Ter)SNVPathogenicrs80356915GRCh37Chr 17, 41246215: 41246215
1347BRCA1NM_ 007294.3(BRCA1): c.1335_ 1336delAA (p.Arg446Serfs)deletionPathogenicrs80357978GRCh37Chr 17, 41246212: 41246213
1348BRCA1NM_ 007294.3(BRCA1): c.133_ 134+3delAAGTAinsTindelPathogenicrs397508856GRCh37Chr 17, 41267740: 41267744
1349BRCA1NM_ 007294.3(BRCA1): c.133_ 134delAA (p.Lys45Ilefs)deletionPathogenicrs397508857GRCh37Chr 17, 41267743: 41267744
1350BRCA1NM_ 007294.3(BRCA1): c.134+1G> TSNVPathogenicrs80358043GRCh37Chr 17, 41267742: 41267742
1351BRCA1NM_ 007294.3(BRCA1): c.134+2T> GSNVPathogenicrs80358131GRCh37Chr 17, 41267741: 41267741
1352BRCA1NM_ 007294.3(BRCA1): c.134+3_ 134+6delAAGTdeletionPathogenicrs397508858GRCh37Chr 17, 41267737: 41267740
1353BRCA1NM_ 007294.3(BRCA1): c.135-1G> CSNVPathogenicrs80358158GRCh37Chr 17, 41258551: 41258551
1354BRCA1NM_ 007294.3(BRCA1): c.1352C> A (p.Ser451Ter)SNVPathogenicrs80356891GRCh37Chr 17, 41246196: 41246196
1355BRCA1NM_ 007294.3(BRCA1): c.1352C> G (p.Ser451Ter)SNVPathogenicrs80356891GRCh37Chr 17, 41246196: 41246196
1356BRCA1NM_ 007294.3(BRCA1): c.1371delA (p.Asp458Thrfs)deletionPathogenicrs397508861GRCh37Chr 17, 41246177: 41246177
1357BRCA1NM_ 007294.3(BRCA1): c.1374delC (p.Asp458Glufs)deletionPathogenicrs397508862GRCh37Chr 17, 41246174: 41246174
1358BRCA1NM_ 007294.3(BRCA1): c.1380dupA (p.Phe461Ilefs)duplicationPathogenicrs80357714GRCh37Chr 17, 41246168: 41246168
1359BRCA1NM_ 007294.3(BRCA1): c.1383delT (p.Phe461Leufs)deletionPathogenicrs80357879GRCh37Chr 17, 41246165: 41246165
1360BRCA1NM_ 007294.3(BRCA1): c.1386delG (p.Thr464Profs)deletionPathogenicrs80357722GRCh37Chr 17, 41246162: 41246162
1361BRCA1NM_ 007294.3(BRCA1): c.1386dupG (p.Lys463Glufs)duplicationPathogenicrs397508865GRCh37Chr 17, 41246162: 41246162
1362BRCA1NM_ 007294.3(BRCA1): c.1390delA (p.Thr464Profs)deletionPathogenicrs80357770GRCh37Chr 17, 41246158: 41246158
1363BRCA1NM_ 007294.3(BRCA1): c.1392delC (p.Tyr465Ilefs)deletionPathogenicrs397508868GRCh37Chr 17, 41246156: 41246156
1364BRCA1NM_ 007294.3(BRCA1): c.1399A> T (p.Lys467Ter)SNVPathogenicrs80357279GRCh37Chr 17, 41246149: 41246149
1365BRCA1NM_ 007294.3(BRCA1): c.1403delA (p.Lys468Argfs)deletionPathogenicrs397508870GRCh37Chr 17, 41246145: 41246145
1366BRCA1NM_ 007294.3(BRCA1): c.1405delG (p.Ala469Glnfs)deletionPathogenicrs397508871GRCh37Chr 17, 41246143: 41246143
1367BRCA1NM_ 007294.3(BRCA1): c.140G> A (p.Cys47Tyr)SNVPathogenicrs80357150GRCh37Chr 17, 41258545: 41258545
1368BRCA1NM_ 007294.3(BRCA1): c.1421T> G (p.Leu474Ter)SNVPathogenicrs80357490GRCh37Chr 17, 41246127: 41246127
1369BRCA1NM_ 007294.3(BRCA1): c.1439dupA (p.Asn480Lysfs)duplicationPathogenicrs80357505GRCh37Chr 17, 41246109: 41246109
1370BRCA1NM_ 007294.3(BRCA1): c.1444delA (p.Ile482Leufs)deletionPathogenicrs80357648GRCh37Chr 17, 41246104: 41246104
1371BRCA1NM_ 007294.3(BRCA1): c.144delG (p.Met48Ilefs)deletionPathogenicrs80357682GRCh37Chr 17, 41258541: 41258541
1372BRCA1NM_ 007294.3(BRCA1): c.1450G> T (p.Gly484Ter)SNVPathogenicrs80357304GRCh37Chr 17, 41246098: 41246098
1373BRCA1NM_ 007294.3(BRCA1): c.1465G> T (p.Glu489Ter)SNVPathogenicrs80357167GRCh37Chr 17, 41246083: 41246083
1374BRCA1NM_ 007294.3(BRCA1): c.1471C> T (p.Gln491Ter)SNVPathogenicrs62625303GRCh37Chr 17, 41246077: 41246077
1375BRCA1NM_ 007294.3(BRCA1): c.1483_ 1498del16 (p.Glu495Ilefs)deletionPathogenicrs397508872GRCh37Chr 17, 41246050: 41246065
1376BRCA1NM_ 007294.3(BRCA1): c.1492delC (p.Leu498Serfs)deletionPathogenicrs80357527GRCh37Chr 17, 41246056: 41246056
1377BRCA1NM_ 007294.3(BRCA1): c.1499delA (p.Asn500Ilefs)deletionPathogenicrs397508874GRCh37Chr 17, 41246049: 41246049
1378BRCA1NM_ 007294.3(BRCA1): c.1508delA (p.Lys503Serfs)deletionPathogenicrs80357506GRCh37Chr 17, 41246040: 41246040
1379BRCA1NM_ 007294.3(BRCA1): c.150delA (p.Lys50Asnfs)deletionPathogenicrs273897662GRCh37Chr 17, 41258535: 41258535
1380BRCA1NM_ 007294.3(BRCA1): c.1511dupG (p.Lys505Terfs)duplicationPathogenicrs80357817GRCh37Chr 17, 41246037: 41246037
1381BRCA1NM_ 007294.3(BRCA1): c.1513A> T (p.Lys505Ter)SNVPathogenicrs397508877GRCh37Chr 17, 41246035: 41246035
1382BRCA1NM_ 007294.3(BRCA1): c.1513_ 1514insT (p.Lys505Ilefs)insertionPathogenicrs397508878GRCh37Chr 17, 41246034: 41246035
1383BRCA1NM_ 007294.3(BRCA1): c.1523delC (p.Pro508Leufs)deletionPathogenicrs80357782GRCh37Chr 17, 41246025: 41246025
1384BRCA1NM_ 007294.3(BRCA1): c.1529C> G (p.Ser510Ter)SNVPathogenicrs80357427GRCh37Chr 17, 41246019: 41246019
1385BRCA1NM_ 007294.3(BRCA1): c.1530delA (p.Gly511Alafs)deletionPathogenicrs80357735GRCh37Chr 17, 41246018: 41246018
1386BRCA1NM_ 007294.3(BRCA1): c.1551delT (p.Phe517Leufs)deletionPathogenicrs80357630GRCh37Chr 17, 41245997: 41245997
1387BRCA1NM_ 007294.3(BRCA1): c.1576C> T (p.Gln526Ter)SNVPathogenicrs80356984GRCh37Chr 17, 41245972: 41245972
1388BRCA1NM_ 007294.3(BRCA1): c.1583_ 1589delCTCCTGA (p.Thr528Lysfs)deletionPathogenicrs80357613GRCh37Chr 17, 41245959: 41245965
1389BRCA1NM_ 007294.3(BRCA1): c.1600C> T (p.Gln534Ter)SNVPathogenicrs142074233GRCh37Chr 17, 41245948: 41245948
1390BRCA1NM_ 007294.3(BRCA1): c.1601dupA (p.Thr536Asnfs)duplicationPathogenicrs397508889GRCh37Chr 17, 41245947: 41245947
1391BRCA1NM_ 007294.3(BRCA1): c.1608_ 1611delTAAC (p.Asn537Lysfs)deletionPathogenicrs80357698GRCh37Chr 17, 41245937: 41245940
1392BRCA1NM_ 007294.3(BRCA1): c.160C> T (p.Gln54Ter)SNVPathogenicrs80356864GRCh37Chr 17, 41258525: 41258525
1393BRCA1NM_ 007294.3(BRCA1): c.1612C> T (p.Gln538Ter)SNVPathogenicrs80356893GRCh37Chr 17, 41245936: 41245936
1394BRCA1NM_ 007294.3(BRCA1): c.1621C> T (p.Gln541Ter)SNVPathogenicrs80356904GRCh37Chr 17, 41245927: 41245927
1395BRCA1NM_ 007294.3(BRCA1): c.1623dupG (p.Asn542Glufs)duplicationPathogenicrs397508891GRCh37Chr 17, 41245925: 41245925
1396BRCA1NM_ 007294.3(BRCA1): c.1630C> T (p.Gln544Ter)SNVPathogenicrs80356952GRCh37Chr 17, 41245918: 41245918
1397BRCA1NM_ 007294.3(BRCA1): c.1636_ 1654del19 (p.Met546Valfs)deletionPathogenicrs80359881GRCh37Chr 17, 41245894: 41245912
1398BRCA1NM_ 007294.3(BRCA1): c.1649delA (p.Asn550Ilefs)deletionPathogenicrs80357619GRCh37Chr 17, 41245899: 41245899
1399BRCA1NM_ 007294.3(BRCA1): c.1673_ 1674delAA (p.Lys558Argfs)deletionPathogenicrs397508896GRCh37Chr 17, 41245874: 41245875
1400BRCA1NM_ 007294.3(BRCA1): c.1713_ 1717delAGAAT (p.Glu572Thrfs)deletionPathogenicrs80357640GRCh37Chr 17, 41245831: 41245835
1401BRCA1NM_ 007294.3(BRCA1): c.1716delA (p.Glu572Aspfs)deletionPathogenicrs397508900GRCh37Chr 17, 41245832: 41245832
1402BRCA1NM_ 007294.3(BRCA1): c.1729G> T (p.Glu577Ter)SNVPathogenicrs397508903GRCh37Chr 17, 41245819: 41245819
1403BRCA1NM_ 007294.3(BRCA1): c.1729_ 1730delGA (p.Glu577Ilefs)deletionPathogenicrs80357834GRCh37Chr 17, 41245818: 41245819
1404BRCA1NM_ 007294.3(BRCA1): c.1747A> T (p.Lys583Ter)SNVPathogenicrs80356928GRCh37Chr 17, 41245801: 41245801
1405BRCA1NM_ 007294.3(BRCA1): c.1757delC (p.Pro586Leufs)deletionPathogenicrs80357723GRCh37Chr 17, 41245791: 41245791
1406BRCA1NM_ 007294.3(BRCA1): c.1772delT (p.Ile591Lysfs)deletionPathogenicrs80357901GRCh37Chr 17, 41245776: 41245776
1407BRCA1NM_ 007294.3(BRCA1): c.1789G> T (p.Glu597Ter)SNVPathogenicrs55650082GRCh37Chr 17, 41245759: 41245759
1408BRCA1NM_ 007294.3(BRCA1): c.178C> T (p.Gln60Ter)SNVPathogenicrs80357471GRCh37Chr 17, 41258507: 41258507
1409BRCA1NM_ 007294.3(BRCA1): c.1793T> A (p.Leu598Ter)SNVPathogenicrs80357118GRCh37Chr 17, 41245755: 41245755
1410BRCA1NM_ 007294.3(BRCA1): c.1793T> G (p.Leu598Ter)SNVPathogenicrs80357118GRCh37Chr 17, 41245755: 41245755
1411BRCA1NM_ 007294.3(BRCA1): c.179delA (p.Gln60Argfs)deletionPathogenicrs80357591GRCh37Chr 17, 41258506: 41258506
1412BRCA1NM_ 007294.3(BRCA1): c.1805delA (p.Asn602Ilefs)deletionPathogenicrs397508908GRCh37Chr 17, 41245743: 41245743
1413BRCA1NM_ 007294.3(BRCA1): c.1808C> G (p.Ser603Ter)SNVPathogenicrs397508909GRCh37Chr 17, 41245740: 41245740
1414BRCA1NM_ 007294.3(BRCA1): c.1819A> T (p.Lys607Ter)SNVPathogenicrs80357220GRCh37Chr 17, 41245729: 41245729
1415BRCA1NM_ 007294.3(BRCA1): c.181T> A (p.Cys61Ser)SNVPathogenicrs28897672GRCh37Chr 17, 41258504: 41258504
1416BRCA1NM_ 007294.3(BRCA1): c.1823_ 1826delAGAA (p.Lys608Ilefs)deletionPathogenicrs80357585GRCh37Chr 17, 41245722: 41245725
1417BRCA1NM_ 007294.3(BRCA1): c.1823delA (p.Lys608Argfs)deletionPathogenicrs397508911GRCh37Chr 17, 41245725: 41245725
1418BRCA1NM_ 007294.3(BRCA1): c.182_ 183delGT (p.Cys61Serfs)deletionPathogenicrs397508912GRCh37Chr 17, 41258502: 41258503
1419BRCA1NM_ 007294.3(BRCA1): c.1831delC (p.Leu611Terfs)deletionPathogenicrs397508913GRCh37Chr 17, 41245717: 41245717
1420BRCA1NM_ 007294.3(BRCA1): c.1837delA (p.Arg613Glyfs)deletionPathogenicrs80357652GRCh37Chr 17, 41245711: 41245711
1421BRCA1NM_ 007294.3(BRCA1): c.1840A> T (p.Lys614Ter)SNVPathogenicrs80357282GRCh37Chr 17, 41245708: 41245708
1422BRCA1NM_ 007294.3(BRCA1): c.1870G> T (p.Glu624Ter)SNVPathogenicrs80356950GRCh37Chr 17, 41245678: 41245678
1423BRCA1NM_ 007294.3(BRCA1): c.1874_ 1877dupTAGT (p.Val627Serfs)duplicationPathogenicrs80357516GRCh37Chr 17, 41245671: 41245674
1424BRCA1NM_ 007294.3(BRCA1): c.1881_ 1884delCAGT (p.Ser628Glufs)deletionPathogenicrs80357567GRCh37Chr 17, 41245664: 41245667
1425BRCA1NM_ 007294.3(BRCA1): c.188T> A (p.Leu63Ter)SNVPathogenicrs80357086GRCh37Chr 17, 41258497: 41258497
1426BRCA1NM_ 007294.3(BRCA1): c.1892dupT (p.Ser632Lysfs)duplicationPathogenicrs80357932GRCh37Chr 17, 41245656: 41245656
1427BRCA1NM_ 007294.3(BRCA1): c.1898delC (p.Pro633Hisfs)deletionPathogenicrs80357851GRCh37Chr 17, 41245650: 41245650
1428BRCA1NM_ 007294.3(BRCA1): c.189dupA (p.Cys64Metfs)duplicationPathogenicrs273897665GRCh37Chr 17, 41258496: 41258496
1429BRCA1NM_ 007294.3(BRCA1): c.1906delT (p.Cys636Valfs)deletionPathogenicrs397508916GRCh37Chr 17, 41245642: 41245642
1430BRCA1NM_ 007294.3(BRCA1): c.1912G> T (p.Glu638Ter)SNVPathogenicrs80357005GRCh37Chr 17, 41245636: 41245636
1431BRCA1NM_ 007294.3(BRCA1): c.1912delG (p.Glu638Asnfs)deletionPathogenicrs80357933GRCh37Chr 17, 41245636: 41245636
1432BRCA1NM_ 007294.3(BRCA1): c.1916T> A (p.Leu639Ter)SNVPathogenicrs80357267GRCh37Chr 17, 41245632: 41245632
1433BRCA1NM_ 007294.3(BRCA1): c.191G> A (p.Cys64Tyr)SNVPathogenicrs55851803GRCh37Chr 17, 41258494: 41258494
1434BRCA1NM_ 007294.3(BRCA1): c.1936delA (p.Ser646Alafs)deletionPathogenicrs397508919GRCh37Chr 17, 41245612: 41245612
1435BRCA1NM_ 007294.3(BRCA1): c.1938_ 1947delCAGTGAAGAG (p.Ser646Argfs)deletionPathogenicrs397508920GRCh37Chr 17, 41245601: 41245610
1436BRCA1NM_ 007294.3(BRCA1): c.1945G> T (p.Glu649Ter)SNVPathogenicrs80356907GRCh37Chr 17, 41245603: 41245603
1437BRCA1NM_ 007294.3(BRCA1): c.1949_ 1950delTA (p.Ile650Lysfs)deletionPathogenicrs397508921GRCh37Chr 17, 41245598: 41245599
1438BRCA1NM_ 007294.3(BRCA1): c.1952delA (p.Lys651Argfs)deletionPathogenicrs397508922GRCh37Chr 17, 41245596: 41245596
1439BRCA1NM_ 007294.3(BRCA1): c.1952dupA (p.Lys652Glufs)duplicationPathogenicrs80357885GRCh37Chr 17, 41245596: 41245596
1440BRCA1NM_ 007294.3(BRCA1): c.1953dupG (p.Lys652Glufs)duplicationPathogenicrs80357753GRCh37Chr 17, 41245595: 41245595
1441BRCA1NM_ 007294.3(BRCA1): c.1958_ 1961delAAAA (p.Lys653Serfs)deletionPathogenicrs397508923GRCh37Chr 17, 41245587: 41245590
1442BRCA1NM_ 007294.3(BRCA1): c.195delG (p.Asn66Metfs)deletionPathogenicrs80357869GRCh37Chr 17, 41258490: 41258490
1443BRCA1NM_ 007294.3(BRCA1): c.1960_ 1961delAA (p.Lys654Valfs)deletionPathogenicrs80357643GRCh37Chr 17, 41245587: 41245588
1444BRCA1NM_ 007294.3(BRCA1): c.1961dupA (p.Tyr655Valfs)duplicationPathogenicrs80357853GRCh37Chr 17, 41245587: 41245587
1445BRCA1NM_ 007294.3(BRCA1): c.1963_ 1964insG (p.Tyr655Terfs)insertionPathogenicrs397508924GRCh37Chr 17, 41245584: 41245585
1446BRCA1NM_ 007294.3(BRCA1): c.1969C> T (p.Gln657Ter)SNVPathogenicrs397508926GRCh37Chr 17, 41245579: 41245579
1447BRCA1NM_ 007294.3(BRCA1): c.1996delC (p.Leu666Tyrfs)deletionPathogenicrs80357922GRCh37Chr 17, 41245552: 41245552
1448BRCA1NM_ 007294.3(BRCA1): c.1999C> T (p.Gln667Ter)SNVPathogenicrs80356889GRCh37Chr 17, 41245549: 41245549
1449BRCA1NM_ 007294.3(BRCA1): c.1A> G (p.Met1Val)SNVPathogenicrs80357287GRCh37Chr 17, 41276113: 41276113
1450BRCA1NM_ 007294.3(BRCA1): c.2014A> T (p.Lys672Ter)SNVPathogenicrs397508929GRCh37Chr 17, 41245534: 41245534
1451BRCA1NM_ 007294.3(BRCA1): c.2017G> T (p.Glu673Ter)SNVPathogenicrs80357391GRCh37Chr 17, 41245531: 41245531
1452BRCA1NM_ 007294.3(BRCA1): c.2017delG (p.Glu673Asnfs)deletionPathogenicrs80357638GRCh37Chr 17, 41245531: 41245531
1453BRCA1NM_ 007294.3(BRCA1): c.2019delA (p.Glu673Aspfs)deletionPathogenicrs80357626GRCh37Chr 17, 41245529: 41245529
1454BRCA1NM_ 007294.3(BRCA1): c.2035A> T (p.Lys679Ter)SNVPathogenicrs80357082GRCh37Chr 17, 41245513: 41245513
1455BRCA1NM_ 007294.3(BRCA1): c.2037delGinsCC (p.Lys679Asnfs)indelPathogenicrs397508932GRCh37Chr 17, 41245511: 41245511
1456BRCA1NM_ 007294.3(BRCA1): c.2059C> T (p.Gln687Ter)SNVPathogenicrs273898674GRCh37Chr 17, 41245489: 41245489
1457BRCA1NM_ 007294.3(BRCA1): c.2063_ 2066delCAAG (p.Thr688Ilefs)deletionPathogenicrs397508935GRCh37Chr 17, 41245482: 41245485
1458BRCA1NM_ 007294.3(BRCA1): c.2074delC (p.His692Metfs)deletionPathogenicrs80357554GRCh37Chr 17, 41245474: 41245474
1459BRCA1NM_ 007294.3(BRCA1): c.2079_ 2080delCA (p.Asp693Glufs)deletionPathogenicrs80357773GRCh37Chr 17, 41245468: 41245469
1460BRCA1NM_ 007294.3(BRCA1): c.2105T> G (p.Leu702Ter)SNVPathogenicrs80357298GRCh37Chr 17, 41245443: 41245443
1461BRCA1NM_ 007294.3(BRCA1): c.2110_ 2111delAA (p.Asn704Cysfs)deletionPathogenicrs80357814GRCh37Chr 17, 41245437: 41245438
1462BRCA1NM_ 007294.3(BRCA1): c.212+1G> CSNVPathogenicrs80358042GRCh37Chr 17, 41258472: 41258472
1463BRCA1NM_ 007294.3(BRCA1): c.212+1G> TSNVPathogenicrs80358042GRCh37Chr 17, 41258472: 41258472
1464BRCA1NM_ 007294.3(BRCA1): c.212+2T> CSNVPathogenicrs80358026GRCh37Chr 17, 41258471: 41258471
1465BRCA1NM_ 007294.3(BRCA1): c.212+3A> GSNVPathogenicrs80358083GRCh37Chr 17, 41258470: 41258470
1466BRCA1NM_ 007294.3(BRCA1): c.2125_ 2126insA (p.Phe709Tyrfs)insertionPathogenicrs80357871GRCh37Chr 17, 41245422: 41245423
1467BRCA1NM_ 007294.3(BRCA1): c.2126_ 2127delTT (p.Phe709Tyrfs)deletionPathogenicrs397508939GRCh37Chr 17, 41245421: 41245422
1468BRCA1NM_ 007294.3(BRCA1): c.212G> A (p.Arg71Lys)SNVPathogenicrs80356913GRCh37Chr 17, 41258473: 41258473
1469BRCA1NM_ 007294.3(BRCA1): c.213-1G> ASNVPathogenicrs80358146GRCh37Chr 17, 41256974: 41256974
1470BRCA1NM_ 007294.3(BRCA1): c.213-2A> CSNVPathogenicrs397508940GRCh37Chr 17, 41256975: 41256975
1471BRCA1NM_ 007294.3(BRCA1): c.2142delT (p.Asn714Lysfs)deletionPathogenicrs273898679GRCh37Chr 17, 41245406: 41245406
1472BRCA1NM_ 007294.3(BRCA1): c.2155A> T (p.Lys719Ter)SNVPathogenicrs80357147GRCh37Chr 17, 41245393: 41245393
1473BRCA1NM_ 007294.3(BRCA1): c.2155_ 2168delAAAGAATTTGTCAA (p.Lys719Serfs)deletionPathogenicrs397508941GRCh37Chr 17, 41245380: 41245393
1474BRCA1NM_ 007294.3(BRCA1): c.2157dupA (p.Glu720Argfs)duplicationPathogenicrs80357715GRCh37Chr 17, 41245391: 41245391
1475BRCA1NM_ 007294.3(BRCA1): c.2176_ 2177delCT (p.Leu726Serfs)deletionPathogenicrs397508945GRCh37Chr 17, 41245371: 41245372
1476BRCA1NM_ 007294.3(BRCA1): c.2176delC (p.Leu726Phefs)deletionPathogenicrs80357668GRCh37Chr 17, 41245372: 41245372
1477BRCA1NM_ 007294.3(BRCA1): c.2188G> T (p.Glu730Ter)SNVPathogenicrs80357058GRCh37Chr 17, 41245360: 41245360
1478BRCA1NM_ 007294.3(BRCA1): c.2188_ 2201delGAAAAAGAAGAGAA (p.Glu730Thrfs)deletionPathogenicrs273898681GRCh37Chr 17, 41245347: 41245360
1479BRCA1NM_ 007294.3(BRCA1): c.2192_ 2196delAAGAA (p.Lys731Argfs)deletionPathogenicrs397508946GRCh37Chr 17, 41245352: 41245356
1480BRCA1NM_ 007294.3(BRCA1): c.2194G> T (p.Glu732Ter)SNVPathogenicrs80357426GRCh37Chr 17, 41245354: 41245354
1481BRCA1NM_ 007294.3(BRCA1): c.2197G> T (p.Glu733Ter)SNVPathogenicrs397508949GRCh37Chr 17, 41245351: 41245351
1482BRCA1NM_ 007294.3(BRCA1): c.2197_ 2201delGAGAA (p.Glu733Thrfs)deletionPathogenicrs80357507GRCh37Chr 17, 41245347: 41245351
1483BRCA1NM_ 007294.3(BRCA1): c.2202delA (p.Lys734Asnfs)deletionPathogenicrs80357982GRCh37Chr 17, 41245346: 41245346
1484BRCA1NM_ 007294.3(BRCA1): c.2203delC (p.Leu735Terfs)deletionPathogenicrs80357936GRCh37Chr 17, 41245345: 41245345
1485BRCA1NM_ 007294.3(BRCA1): c.2206delG (p.Glu736Lysfs)deletionPathogenicrs80357860GRCh37Chr 17, 41245342: 41245342
1486BRCA1NM_ 007294.3(BRCA1): c.220C> T (p.Gln74Ter)SNVPathogenicrs80357234GRCh37Chr 17, 41256966: 41256966
1487BRCA1NM_ 007294.3(BRCA1): c.2210delC (p.Thr737Lysfs)deletionPathogenicrs80357793GRCh37Chr 17, 41245338: 41245338
1488BRCA1NM_ 007294.3(BRCA1): c.2212_ 2215delGTTA (p.Val738Lysfs)deletionPathogenicrs397508951GRCh37Chr 17, 41245333: 41245336
1489BRCA1NM_ 007294.3(BRCA1): c.2215A> T (p.Lys739Ter)SNVPathogenicrs56329598GRCh37Chr 17, 41245333: 41245333
1490BRCA1NM_ 007294.3(BRCA1): c.2216_ 2217delAA (p.Lys739Serfs)deletionPathogenicrs397508952GRCh37Chr 17, 41245331: 41245332
1491BRCA1NM_ 007294.3(BRCA1): c.2236dupG (p.Asp746Glyfs)duplicationPathogenicrs80357909GRCh37Chr 17, 41245312: 41245312
1492BRCA1NM_ 007294.3(BRCA1): c.2241delC (p.Asp749Ilefs)deletionPathogenicrs80357650GRCh37Chr 17, 41245307: 41245307
1493BRCA1NM_ 007294.3(BRCA1): c.2241dupC (p.Lys748Glnfs)duplicationPathogenicrs397508953GRCh37Chr 17, 41245307: 41245307
1494BRCA1NM_ 007294.3(BRCA1): c.2248_ 2252delCTCAT (p.Leu750Valfs)deletionPathogenicrs397508954GRCh37Chr 17, 41245296: 41245300
1495BRCA1NM_ 007294.3(BRCA1): c.224_ 227delAAAG (p.Glu75Valfs)deletionPathogenicrs80357697GRCh37Chr 17, 41256959: 41256962
1496BRCA1NM_ 007294.3(BRCA1): c.2253_ 2254delGT (p.Met751Ilefs)deletionPathogenicrs80357602GRCh37Chr 17, 41245294: 41245295
1497BRCA1NM_ 007294.3(BRCA1): c.2263G> T (p.Glu755Ter)SNVPathogenicrs41286296GRCh37Chr 17, 41245285: 41245285
1498BRCA1NM_ 007294.3(BRCA1): c.2263delG (p.Glu755Lysfs)deletionPathogenicrs80357960GRCh37Chr 17, 41245285: 41245285
1499BRCA1NM_ 007294.3(BRCA1): c.2275C> T (p.Gln759Ter)SNVPathogenicrs80356999GRCh37Chr 17, 41245273: 41245273
1500BRCA1NM_ 007294.3(BRCA1): c.2283_ 2284delAA (p.Arg762Ilefs)deletionPathogenicrs80357657GRCh37Chr 17, 41245264: 41245265
1501BRCA1NM_ 007294.3(BRCA1): c.2292_ 2310dup19 (p.Leu771Argfs)duplicationPathogenicrs397508955GRCh37Chr 17, 41245238: 41245256
1502BRCA1NM_ 007294.3(BRCA1): c.2293G> T (p.Glu765Ter)SNVPathogenicrs80357449GRCh37Chr 17, 41245255: 41245255
1503BRCA1NM_ 007294.3(BRCA1): c.2309C> A (p.Ser770Ter)SNVPathogenicrs80357063GRCh37Chr 17, 41245239: 41245239
1504BRCA1NM_ 007294.3(BRCA1): c.2314delG (p.Val772Tyrfs)deletionPathogenicrs80357957GRCh37Chr 17, 41245234: 41245234
1505BRCA1NM_ 007294.3(BRCA1): c.2329delT (p.Tyr777Metfs)deletionPathogenicrs80357725GRCh37Chr 17, 41245219: 41245219
1506BRCA1NM_ 007294.3(BRCA1): c.232delA (p.Arg78Aspfs)deletionPathogenicrs80357884GRCh37Chr 17, 41256954: 41256954
1507BRCA1NM_ 007294.3(BRCA1): c.2331T> A (p.Tyr777Ter)SNVPathogenicrs80357444GRCh37Chr 17, 41245217: 41245217
1508BRCA1NM_ 007294.3(BRCA1): c.2338C> T (p.Gln780Ter)SNVPathogenicrs80356945GRCh37Chr 17, 41245210: 41245210
1509BRCA1NM_ 007294.3(BRCA1): c.2350_ 2351delTC (p.Ser784Valfs)deletionPathogenicrs397508960GRCh37Chr 17, 41245197: 41245198
1510BRCA1NM_ 007294.3(BRCA1): c.2351_ 2357delCGTTACT (p.Ser784Trpfs)deletionPathogenicrs80357820GRCh37Chr 17, 41245191: 41245197
1511BRCA1NM_ 007294.3(BRCA1): c.2354T> A (p.Leu785Ter)SNVPathogenicrs397508961GRCh37Chr 17, 41245194: 41245194
1512BRCA1NM_ 007294.3(BRCA1): c.2357delT (p.Leu786Argfs)deletionPathogenicrs397508963GRCh37Chr 17, 41245191: 41245191
1513BRCA1NM_ 007294.3(BRCA1): c.2359delG (p.Glu787Lysfs)deletionPathogenicrs397508964GRCh37Chr 17, 41245189: 41245189
1514BRCA1NM_ 007294.3(BRCA1): c.2359dupG (p.Glu787Glyfs)duplicationPathogenicrs80357739GRCh37Chr 17, 41245189: 41245189
1515BRCA1NM_ 007294.3(BRCA1): c.2389_ 2390delGA (p.Glu797Thrfs)deletionPathogenicrs80357695GRCh37Chr 17, 41245158: 41245159
1516BRCA1NM_ 007294.3(BRCA1): c.2390_ 2391delAA (p.Glu797Alafs)deletionPathogenicrs80357546GRCh37Chr 17, 41245157: 41245158
1517BRCA1NM_ 007294.3(BRCA1): c.2393delC (p.Pro798Glnfs)deletionPathogenicrs80357850GRCh37Chr 17, 41245155: 41245155
1518BRCA1NM_ 007294.3(BRCA1): c.2403T> A (p.Cys801Ter)SNVPathogenicrs80357381GRCh37Chr 17, 41245145: 41245145
1519BRCA1NM_ 007294.3(BRCA1): c.2405_ 2406delTG (p.Val802Glufs)deletionPathogenicrs80357706GRCh37Chr 17, 41245142: 41245143
1520BRCA1NM_ 007294.3(BRCA1): c.2406_ 2409delGAGT (p.Gln804Valfs)deletionPathogenicrs80357674GRCh37Chr 17, 41245139: 41245142
1521BRCA1NM_ 007294.3(BRCA1): c.2410C> T (p.Gln804Ter)SNVPathogenicrs80356982GRCh37Chr 17, 41245138: 41245138
1522BRCA1NM_ 007294.3(BRCA1): c.241C> T (p.Gln81Ter)SNVPathogenicrs80357350GRCh37Chr 17, 41256945: 41256945
1523BRCA1NM_ 007294.3(BRCA1): c.2429delA (p.Asn810Thrfs)deletionPathogenicrs397508967GRCh37Chr 17, 41245119: 41245119
1524BRCA1NM_ 007294.3(BRCA1): c.2434A> T (p.Lys812Ter)SNVPathogenicrs397508968GRCh37Chr 17, 41245114: 41245114
1525BRCA1NM_ 007294.3(BRCA1): c.2437G> T (p.Gly813Ter)SNVPathogenicrs80357186GRCh37Chr 17, 41245111: 41245111
1526BRCA1NM_ 007294.3(BRCA1): c.2443delA (p.Ile815Phefs)deletionPathogenicrs80357598GRCh37Chr 17, 41245105: 41245105
1527BRCA1NM_ 007294.3(BRCA1): c.2450delG (p.Gly817Valfs)deletionPathogenicrs80357679GRCh37Chr 17, 41245098: 41245098
1528BRCA1NM_ 007294.3(BRCA1): c.2468delG (p.Arg823Lysfs)deletionPathogenicrs80357799GRCh37Chr 17, 41245080: 41245080
1529BRCA1NM_ 007294.3(BRCA1): c.2476delA (p.Thr826Glnfs)deletionPathogenicrs80357631GRCh37Chr 17, 41245072: 41245072
1530BRCA1NM_ 007294.3(BRCA1): c.2477_ 2478delCA (p.Thr826Argfs)deletionPathogenicrs80357800GRCh37Chr 17, 41245070: 41245071
1531BRCA1NM_ 007294.3(BRCA1): c.2477delC (p.Thr826Lysfs)deletionPathogenicrs80357740GRCh37Chr 17, 41245071: 41245071
1532BRCA1NM_ 007294.3(BRCA1): c.2487delT (p.Phe829Leufs)deletionPathogenicrs80357658GRCh37Chr 17, 41245061: 41245061
1533BRCA1NM_ 007294.3(BRCA1): c.2487dupT (p.Lys830Terfs)duplicationPathogenicrs397508972GRCh37Chr 17, 41245061: 41245061
1534BRCA1NM_ 007294.3(BRCA1): c.2488_ 2497dupAAGTATCCAT (p.Leu833Terfs)duplicationPathogenicrs397508973GRCh37Chr 17, 41245051: 41245060
1535BRCA1NM_ 007294.3(BRCA1): c.2507_ 2508delAA (p.Glu836Glyfs)deletionPathogenicrs273899686GRCh37Chr 17, 41245040: 41245041
1536BRCA1NM_ 007294.3(BRCA1): c.2513delA (p.Asn838Thrfs)deletionPathogenicrs80357863GRCh37Chr 17, 41245035: 41245035
1537BRCA1NM_ 007294.3(BRCA1): c.2517_ 2518delCA (p.His839Glnfs)deletionPathogenicrs397508974GRCh37Chr 17, 41245030: 41245031
1538BRCA1NM_ 007294.3(BRCA1): c.2518delA (p.Ser840Valfs)deletionPathogenicrs397508975GRCh37Chr 17, 41245030: 41245030
1539BRCA1NM_ 007294.3(BRCA1): c.2545G> T (p.Glu849Ter)SNVPathogenicrs80356951GRCh37Chr 17, 41245003: 41245003
1540BRCA1NM_ 007294.3(BRCA1): c.2558dupA (p.Asp853Glufs)duplicationPathogenicrs80357835GRCh37Chr 17, 41244990: 41244990
1541BRCA1NM_ 007294.3(BRCA1): c.2560_ 2561dupGC (p.Gln855Leufs)duplicationPathogenicrs80357968GRCh37Chr 17, 41244987: 41244988
1542BRCA1NM_ 007294.3(BRCA1): c.2561_ 2565delCTCAG (p.Ala854Valfs)deletionPathogenicrs397508981GRCh37Chr 17, 41244983: 41244987
1543BRCA1NM_ 007294.3(BRCA1): c.2568T> G (p.Tyr856Ter)SNVPathogenicrs80356832GRCh37Chr 17, 41244980: 41244980
1544BRCA1NM_ 007294.3(BRCA1): c.2572C> T (p.Gln858Ter)SNVPathogenicrs397508983GRCh37Chr 17, 41244976: 41244976
1545BRCA1NM_ 007294.3(BRCA1): c.2591C> G (p.Ser864Ter)SNVPathogenicrs80357003GRCh37Chr 17, 41244957: 41244957
1546BRCA1NM_ 007294.3(BRCA1): c.2594delA (p.Lys865Serfs)deletionPathogenicrs80357756GRCh37Chr 17, 41244954: 41244954
1547BRCA1NM_ 007294.3(BRCA1): c.2611_ 2612delCC (p.Pro871Valfs)deletionPathogenicrs80357962GRCh37Chr 17, 41244936: 41244937
1548BRCA1NM_ 007294.3(BRCA1): c.2612_ 2613insT (p.Phe872Valfs)insertionPathogenicrs80357948GRCh37Chr 17, 41244935: 41244936
1549BRCA1NM_ 007294.3(BRCA1): c.2612delCinsTT (p.Pro871Leufs)indelPathogenicrs397508986GRCh37Chr 17, 41244936: 41244936
1550BRCA1NM_ 007294.3(BRCA1): c.2612dupC (p.Phe872Valfs)duplicationPathogenicrs80357948GRCh37Chr 17, 41244936: 41244936
1551BRCA1NM_ 007294.3(BRCA1): c.2617dupT (p.Ser873Phefs)duplicationPathogenicrs80357912GRCh37Chr 17, 41244932: 41244932
1552BRCA1NM_ 007294.3(BRCA1): c.2641G> T (p.Glu881Ter)SNVPathogenicrs397508988GRCh37Chr 17, 41244907: 41244907
1553BRCA1NM_ 007294.3(BRCA1): c.2643delA (p.Glu881Aspfs)deletionPathogenicrs397508989GRCh37Chr 17, 41244905: 41244905
1554BRCA1NM_ 007294.3(BRCA1): c.2646_ 2648delTGC (p.Cys882_ Ser1217delinsTer)deletionPathogenicrs80357513GRCh37Chr 17, 41244900: 41244902
1555BRCA1NM_ 007294.3(BRCA1): c.2657_ 2658delCT (p.Ser886Cysfs)deletionPathogenicrs397508990GRCh37Chr 17, 41244890: 41244891
1556BRCA1NM_ 007294.3(BRCA1): c.2659dupG (p.Ala887Glyfs)duplicationPathogenicrs397508991GRCh37Chr 17, 41244889: 41244889
1557BRCA1NM_ 007294.3(BRCA1): c.2670delG (p.Ser891Profs)deletionPathogenicrs80357659GRCh37Chr 17, 41244878: 41244878
1558BRCA1NM_ 007294.3(BRCA1): c.2675_ 2678delTAAA (p.Leu892Terfs)deletionPathogenicrs80357518GRCh37Chr 17, 41244870: 41244873
1559BRCA1NM_ 007294.3(BRCA1): c.2682delA (p.Lys894Asnfs)deletionPathogenicrs397508996GRCh37Chr 17, 41244866: 41244866
1560BRCA1NM_ 007294.3(BRCA1): c.2683C> T (p.Gln895Ter)SNVPathogenicrs397508997GRCh37Chr 17, 41244865: 41244865
1561BRCA1NM_ 007294.3(BRCA1): c.2683_ 2686delCAAA (p.Gln895Valfs)deletionPathogenicrs397508998GRCh37Chr 17, 41244862: 41244865
1562BRCA1NM_ 007294.3(BRCA1): c.2685_ 2686delAA (p.Pro897Lysfs)deletionPathogenicrs80357636GRCh37Chr 17, 41244862: 41244863
1563BRCA1NM_ 007294.3(BRCA1): c.2694dupA (p.Val899Serfs)duplicationPathogenicrs80357549GRCh37Chr 17, 41244854: 41244854
1564BRCA1NM_ 007294.3(BRCA1): c.269_ 281delTTTGTGCTTTTCA (p.Ile90Serfs)deletionPathogenicrs80359879GRCh37Chr 17, 41256905: 41256917
1565BRCA1NM_ 007294.3(BRCA1): c.2702_ 2703delTT (p.Phe901Terfs)deletionPathogenicrs80357899GRCh37Chr 17, 41244845: 41244846
1566BRCA1NM_ 007294.3(BRCA1): c.2709delT (p.Cys903Trpfs)deletionPathogenicrs80357594GRCh37Chr 17, 41244839: 41244839
1567BRCA1NM_ 007294.3(BRCA1): c.2713C> T (p.Gln905Ter)SNVPathogenicrs397509002GRCh37Chr 17, 41244835: 41244835
1568BRCA1NM_ 007294.3(BRCA1): c.2719_ 2722delGAAG (p.Glu907Lysfs)deletionPathogenicrs80357731GRCh37Chr 17, 41244826: 41244829
1569BRCA1NM_ 007294.3(BRCA1): c.2722G> T (p.Glu908Ter)SNVPathogenicrs80356978GRCh37Chr 17, 41244826: 41244826
1570BRCA1NM_ 007294.3(BRCA1): c.2726_ 2730delATCAA (p.Asn909Argfs)deletionPathogenicrs80357712GRCh37Chr 17, 41244818: 41244822
1571BRCA1NM_ 007294.3(BRCA1): c.2726delA (p.Asn909Ilefs)deletionPathogenicrs80357614GRCh37Chr 17, 41244822: 41244822
1572BRCA1NM_ 007294.3(BRCA1): c.2726dupA (p.Asn909Lysfs)duplicationPathogenicrs80357685GRCh37Chr 17, 41244822: 41244822
1573BRCA1NM_ 007294.3(BRCA1): c.2727_ 2730delTCAA (p.Asn909Lysfs)deletionPathogenicrs80357605GRCh37Chr 17, 41244818: 41244821
1574BRCA1NM_ 007294.3(BRCA1): c.2728delC (p.Gln910Lysfs)deletionPathogenicrs397509005GRCh37Chr 17, 41244820: 41244820
1575BRCA1NM_ 007294.3(BRCA1): c.2740G> T (p.Glu914Ter)SNVPathogenicrs80357419GRCh37Chr 17, 41244808: 41244808
1576BRCA1NM_ 007294.3(BRCA1): c.2744_ 2745delCT (p.Ser915Terfs)deletionPathogenicrs80357540GRCh37Chr 17, 41244803: 41244804
1577BRCA1NM_ 007294.3(BRCA1): c.2749dupA (p.Ile917Asnfs)duplicationPathogenicrs80357942GRCh37Chr 17, 41244799: 41244799
1578BRCA1NM_ 007294.3(BRCA1): c.2761C> T (p.Gln921Ter)SNVPathogenicrs80357377GRCh37Chr 17, 41244787: 41244787
1579BRCA1NM_ 007294.3(BRCA1): c.2762delA (p.Gln921Argfs)deletionPathogenicrs80357703GRCh37Chr 17, 41244786: 41244786
1580BRCA1NM_ 007294.3(BRCA1): c.2764_ 2767delACAG (p.Thr922Leufs)deletionPathogenicrs80357822GRCh37Chr 17, 41244781: 41244784
1581BRCA1NM_ 007294.3(BRCA1): c.2766delA (p.Val923Leufs)deletionPathogenicrs80357812GRCh37Chr 17, 41244782: 41244782
1582BRCA1NM_ 007294.3(BRCA1): c.2767_ 2770delGTTA (p.Val923Ilefs)deletionPathogenicrs80357661GRCh37Chr 17, 41244778: 41244781
1583BRCA1NM_ 007294.3(BRCA1): c.2796_ 2799delTGGT (p.Gly933Argfs)deletionPathogenicrs80357840GRCh37Chr 17, 41244749: 41244752
1584BRCA1NM_ 007294.3(BRCA1): c.2800C> T (p.Gln934Ter)SNVPathogenicrs80357223GRCh37Chr 17, 41244748: 41244748
1585BRCA1NM_ 007294.3(BRCA1): c.2805delA (p.Asp936Ilefs)deletionPathogenicrs397509012GRCh37Chr 17, 41244743: 41244743
1586BRCA1NM_ 007294.3(BRCA1): c.2808_ 2811delTAAG (p.Lys937Glnfs)deletionPathogenicrs397509013GRCh37Chr 17, 41244737: 41244740
1587BRCA1NM_ 007294.3(BRCA1): c.2812_ 2813delCCinsG (p.Pro938Glufs)indelPathogenicrs273899689GRCh37Chr 17, 41244735: 41244736
1588BRCA1NM_ 007294.3(BRCA1): c.2832T> A (p.Cys944Ter)SNVPathogenicrs80357458GRCh37Chr 17, 41244716: 41244716
1589BRCA1NM_ 007294.3(BRCA1): c.2834_ 2835delGT (p.Ser945Asnfs)deletionPathogenicrs397509015GRCh37Chr 17, 41244713: 41244714
1590BRCA1NM_ 007294.3(BRCA1): c.2834_ 2836delGTAinsC (p.Ser945Thrfs)indelPathogenicrs386134270GRCh37Chr 17, 41244712: 41244714
1591BRCA1NM_ 007294.3(BRCA1): c.2835dupT (p.Ile946Tyrfs)duplicationPathogenicrs80357519GRCh37Chr 17, 41244713: 41244713
1592BRCA1NM_ 007294.3(BRCA1): c.2836_ 2837delAT (p.Ile946Glnfs)deletionPathogenicrs397509016GRCh38Chr 17, 43092694: 43092695
1593BRCA1NM_ 007294.3(BRCA1): c.2840_ 2841delAA (p.Lys947Argfs)deletionPathogenicrs80357984GRCh37Chr 17, 41244707: 41244708
1594BRCA1NM_ 007294.3(BRCA1): c.2856_ 2857delTT (p.Phe952Leufs)deletionPathogenicrs397509019GRCh37Chr 17, 41244691: 41244692
1595BRCA1NM_ 007294.3(BRCA1): c.2864C> A (p.Ser955Ter)SNVPathogenicrs80357295GRCh37Chr 17, 41244684: 41244684
1596BRCA1NM_ 007294.3(BRCA1): c.2866_ 2870delTCTCA (p.Ser956Valfs)deletionPathogenicrs80357819GRCh37Chr 17, 41244678: 41244682
1597BRCA1NM_ 007294.3(BRCA1): c.2869C> T (p.Gln957Ter)SNVPathogenicrs80356973GRCh37Chr 17, 41244679: 41244679
1598BRCA1NM_ 007294.3(BRCA1): c.2887delA (p.Thr963Leufs)deletionPathogenicrs80357559GRCh37Chr 17, 41244661: 41244661
1599BRCA1NM_ 007294.3(BRCA1): c.290_ 291delCA (p.Thr97Argfs)deletionPathogenicrs80357738GRCh37Chr 17, 41256895: 41256896
1600BRCA1NM_ 007294.3(BRCA1): c.2910delA (p.Lys970Asnfs)deletionPathogenicrs80357893GRCh37Chr 17, 41244638: 41244638
1601BRCA1NM_ 007294.3(BRCA1): c.2914G> T (p.Gly972Ter)SNVPathogenicrs397509023GRCh37Chr 17, 41244634: 41244634
1602BRCA1NM_ 007294.3(BRCA1): c.2915delG (p.Gly972Aspfs)deletionPathogenicrs80357573GRCh37Chr 17, 41244633: 41244633
1603BRCA1NM_ 007294.3(BRCA1): c.2920_ 2921delTT (p.Leu974Thrfs)deletionPathogenicrs80357611GRCh37Chr 17, 41244627: 41244628
1604BRCA1NM_ 007294.3(BRCA1): c.2921T> A (p.Leu974Ter)SNVPathogenicrs80356872GRCh37Chr 17, 41244627: 41244627
1605BRCA1NM_ 007294.3(BRCA1): c.2923C> T (p.Gln975Ter)SNVPathogenicrs80357497GRCh37Chr 17, 41244625: 41244625
1606BRCA1NM_ 007294.3(BRCA1): c.2934delT (p.Arg979Valfs)deletionPathogenicrs80357741GRCh37Chr 17, 41244614: 41244614
1607BRCA1NM_ 007294.3(BRCA1): c.2952delT (p.Ile986Serfs)deletionPathogenicrs80357627GRCh37Chr 17, 41244596: 41244596
1608BRCA1NM_ 007294.3(BRCA1): c.2952dupT (p.Pro985Serfs)duplicationPathogenicrs397509026GRCh37Chr 17, 41244596: 41244596
1609BRCA1NM_ 007294.3(BRCA1): c.2955delC (p.Ile986Serfs)deletionPathogenicrs397509027GRCh37Chr 17, 41244593: 41244593
1610BRCA1NM_ 007294.3(BRCA1): c.2963C> A (p.Ser988Ter)SNVPathogenicrs397507206GRCh37Chr 17, 41244585: 41244585
1611BRCA1NM_ 007294.3(BRCA1): c.2973_ 2979delAACTAAA (p.Lys991Asnfs)deletionPathogenicrs397509030GRCh37Chr 17, 41244569: 41244575
1612BRCA1NM_ 007294.3(BRCA1): c.2980delT (p.Cys994Valfs)deletionPathogenicrs80357502GRCh37Chr 17, 41244568: 41244568
1613BRCA1NM_ 007294.3(BRCA1): c.2989_ 2990dupAA (p.Asn997Lysfs)duplicationPathogenicrs80357829GRCh37Chr 17, 41244558: 41244559
1614BRCA1NM_ 007294.3(BRCA1): c.2990delA (p.Asn997Ilefs)deletionPathogenicrs397509032GRCh37Chr 17, 41244558: 41244558
1615BRCA1NM_ 007294.3(BRCA1): c.2999delA (p.Glu1000Glyfs)deletionPathogenicrs80357991GRCh37Chr 17, 41244549: 41244549
1616BRCA1NM_ 007294.3(BRCA1): c.2T> C (p.Met1Thr)SNVPathogenicrs80357111GRCh37Chr 17, 41276112: 41276112
1617BRCA1NM_ 007294.3(BRCA1): c.2T> G (p.Met1Arg)SNVPathogenicrs80357111GRCh37Chr 17, 41276112: 41276112
1618BRCA1NM_ 007294.3(BRCA1): c.3008_ 3009delTT (p.Phe1003Terfs)deletionPathogenicrs80357617GRCh37Chr 17, 41244539: 41244540
1619BRCA1NM_ 007294.3(BRCA1): c.3013delG (p.Glu1005Asnfs)deletionPathogenicrs80357937GRCh37Chr 17, 41244535: 41244535
1620BRCA1NM_ 007294.3(BRCA1): c.3018_ 3021delTTCA (p.His1006Glnfs)deletionPathogenicrs80357749GRCh37Chr 17, 41244527: 41244530
1621BRCA1NM_ 007294.3(BRCA1): c.302-1G> ASNVPathogenicrs80358116GRCh37Chr 17, 41256279: 41256279
1622BRCA1NM_ 007294.3(BRCA1): c.302-1G> CSNVPathogenicrs80358116GRCh37Chr 17, 41256279: 41256279
1623BRCA1NM_ 007294.3(BRCA1): c.302-2A> GSNVPathogenicrs80358011GRCh37Chr 17, 41256280: 41256280
1624BRCA1NM_ 007294.3(BRCA1): c.302-2delAdeletionPathogenicrs273899695GRCh37Chr 17, 41256280: 41256280
1625BRCA1NM_ 007294.3(BRCA1): c.3020C> G (p.Ser1007Ter)SNVPathogenicrs80357168GRCh37Chr 17, 41244528: 41244528
1626BRCA1NM_ 007294.3(BRCA1): c.3026C> A (p.Ser1009Ter)SNVPathogenicrs273899696GRCh37Chr 17, 41244522: 41244522
1627BRCA1NM_ 007294.3(BRCA1): c.3029_ 3030delCT (p.Pro1010Argfs)deletionPathogenicrs80357510GRCh37Chr 17, 41244518: 41244519
1628BRCA1NM_ 007294.3(BRCA1): c.303T> G (p.Tyr101Ter)SNVPathogenicrs80356936GRCh37Chr 17, 41256277: 41256277
1629BRCA1NM_ 007294.3(BRCA1): c.3048_ 3052dupTGAGA (p.Asn1018Metfs)duplicationPathogenicrs80357856GRCh37Chr 17, 41244496: 41244500
1630BRCA1NM_ 007294.3(BRCA1): c.3049G> T (p.Glu1017Ter)SNVPathogenicrs80357004GRCh37Chr 17, 41244499: 41244499
1631BRCA1NM_ 007294.3(BRCA1): c.3084_ 3094delTAATAACATTA (p.Asn1029Argfs)deletionPathogenicrs80357647GRCh37Chr 17, 41244454: 41244464
1632BRCA1NM_ 007294.3(BRCA1): c.3097G> T (p.Glu1033Ter)SNVPathogenicrs273899698GRCh37Chr 17, 41244451: 41244451
1633BRCA1NM_ 007294.3(BRCA1): c.3107_ 3112delTTAAAG (p.Phe1036_ Cys1372delinsTer)deletionPathogenicrs80357920GRCh37Chr 17, 41244436: 41244441
1634BRCA1NM_ 007294.3(BRCA1): c.3108delT (p.Phe1036Leufs)deletionPathogenicrs80357841GRCh37Chr 17, 41244440: 41244440
1635BRCA1NM_ 007294.3(BRCA1): c.3108dupT (p.Lys1037Terfs)duplicationPathogenicrs273899699GRCh37Chr 17, 41244440: 41244440
1636BRCA1NM_ 007294.3(BRCA1): c.3122C> G (p.Ser1041Ter)SNVPathogenicrs397509035GRCh37Chr 17, 41244426: 41244426
1637BRCA1NM_ 007294.3(BRCA1): c.3145delT (p.Ser1049Profs)deletionPathogenicrs397509038GRCh37Chr 17, 41244403: 41244403
1638BRCA1NM_ 007294.3(BRCA1): c.3155delA (p.Asn1052Metfs)deletionPathogenicrs397509040GRCh37Chr 17, 41244393: 41244393
1639BRCA1NM_ 007294.3(BRCA1): c.3168delC (p.Ser1057Valfs)deletionPathogenicrs397509044GRCh37Chr 17, 41244380: 41244380
1640BRCA1NM_ 007294.3(BRCA1): c.3178G> T (p.Glu1060Ter)SNVPathogenicrs80357424GRCh37Chr 17, 41244370: 41244370
1641BRCA1NM_ 007294.3(BRCA1): c.317delA (p.Asn106Ilefs)deletionPathogenicrs80357950GRCh37Chr 17, 41256263: 41256263
1642BRCA1NM_ 007294.3(BRCA1): c.3181delA (p.Ile1061Terfs)deletionPathogenicrs80357702GRCh37Chr 17, 41244367: 41244367
1643BRCA1NM_ 007294.3(BRCA1): c.3188_ 3189delCCinsG (p.Ser1063Terfs)indelPathogenicrs273899701GRCh37Chr 17, 41244359: 41244360
1644BRCA1NM_ 007294.3(BRCA1): c.3193dupG (p.Asp1065Glyfs)duplicationPathogenicrs80357511GRCh37Chr 17, 41244355: 41244355
1645BRCA1NM_ 007294.3(BRCA1): c.3214delC (p.Leu1072Terfs)deletionPathogenicrs80357923GRCh37Chr 17, 41244334: 41244334
1646BRCA1NM_ 007294.3(BRCA1): c.321delT (p.Phe107Leufs)deletionPathogenicrs80357544GRCh37Chr 17, 41256259: 41256259
1647BRCA1NM_ 007294.3(BRCA1): c.3226delA (p.Arg1076Glufs)deletionPathogenicrs273899703GRCh37Chr 17, 41244322: 41244322
1648BRCA1NM_ 007294.3(BRCA1): c.3239T> A (p.Leu1080Ter)SNVPathogenicrs80357145GRCh37Chr 17, 41244309: 41244309
1649BRCA1NM_ 007294.3(BRCA1): c.3253dupA (p.Arg1085Lysfs)duplicationPathogenicrs80357517GRCh37Chr 17, 41244295: 41244295
1650BRCA1NM_ 007294.3(BRCA1): c.3254_ 3255dupGA (p.Leu1086Aspfs)duplicationPathogenicrs80357624GRCh37Chr 17, 41244293: 41244294
1651BRCA1NM_ 007294.3(BRCA1): c.3255dupA (p.Leu1086Ilefs)duplicationPathogenicrs80357624GRCh37Chr 17, 41244293: 41244293
1652BRCA1NM_ 007294.3(BRCA1): c.3257T> A (p.Leu1086Ter)SNVPathogenicrs80357006GRCh37Chr 17, 41244291: 41244291
1653BRCA1NM_ 007294.3(BRCA1): c.3257T> G (p.Leu1086Ter)SNVPathogenicrs80357006GRCh37Chr 17, 41244291: 41244291
1654BRCA1NM_ 007294.3(BRCA1): c.3257dupT (p.Leu1086Phefs)duplicationPathogenicrs80357858GRCh37Chr 17, 41244291: 41244291
1655BRCA1NM_ 007294.3(BRCA1): c.3262delG (p.Val1088Phefs)deletionPathogenicrs397509049GRCh37Chr 17, 41244286: 41244286
1656BRCA1NM_ 007294.3(BRCA1): c.3268C> T (p.Gln1090Ter)SNVPathogenicrs80357402GRCh37Chr 17, 41244280: 41244280
1657BRCA1NM_ 007294.3(BRCA1): c.3279delC (p.Tyr1094Ilefs)deletionPathogenicrs397509050GRCh37Chr 17, 41244269: 41244269
1658BRCA1NM_ 007294.3(BRCA1): c.3285delA (p.Lys1095Asnfs)deletionPathogenicrs397509051GRCh37Chr 17, 41244263: 41244263
1659BRCA1NM_ 007294.3(BRCA1): c.3286C> T (p.Gln1096Ter)SNVPathogenicrs80357485GRCh37Chr 17, 41244262: 41244262
1660BRCA1NM_ 007294.3(BRCA1): c.3286delC (p.Gln1096Lysfs)deletionPathogenicrs80357533GRCh37Chr 17, 41244262: 41244262
1661BRCA1NM_ 007294.3(BRCA1): c.3288_ 3289delAA (p.Leu1098Serfs)deletionPathogenicrs80357686GRCh37Chr 17, 41244259: 41244260
1662BRCA1NM_ 007294.3(BRCA1): c.3292_ 3293delCT (p.Leu1098Serfs)deletionPathogenicrs80357992GRCh37Chr 17, 41244255: 41244256
1663BRCA1NM_ 007294.3(BRCA1): c.3296delC (p.Pro1099Leufs)deletionPathogenicrs80357815GRCh37Chr 17, 41244252: 41244252
1664BRCA1NM_ 007294.3(BRCA1): c.329_ 330delAG (p.Lys110Argfs)deletionPathogenicrs80357754GRCh37Chr 17, 41256250: 41256251
1665BRCA1NM_ 007294.3(BRCA1): c.329dupA (p.Glu111Glyfs)duplicationPathogenicrs80357604GRCh37Chr 17, 41256251: 41256251
1666BRCA1NM_ 007294.3(BRCA1): c.32_ 33insC (p.Gln12Thrfs)insertionPathogenicrs80357811GRCh37Chr 17, 41276081: 41276082
1667BRCA1NM_ 007294.3(BRCA1): c.3309T> A (p.Cys1103Ter)SNVPathogenicrs80357317GRCh37Chr 17, 41244239: 41244239
1668BRCA1NM_ 007294.3(BRCA1): c.3314delA (p.His1105Leufs)deletionPathogenicrs397509054GRCh37Chr 17, 41244234: 41244234
1669BRCA1NM_ 007294.3(BRCA1): c.3319G> T (p.Glu1107Ter)SNVPathogenicrs80357106GRCh37Chr 17, 41244229: 41244229
1670BRCA1NM_ 007294.3(BRCA1): c.3323_ 3326delTAAA (p.Ile1108Lysfs)deletionPathogenicrs80357763GRCh37Chr 17, 41244222: 41244225
1671BRCA1NM_ 007294.3(BRCA1): c.3325_ 3329delAAAAA (p.Lys1109Alafs)deletionPathogenicrs80357680GRCh37Chr 17, 41244219: 41244223
1672BRCA1NM_ 007294.3(BRCA1): c.3326_ 3329delAAAA (p.Lys1109Serfs)deletionPathogenicrs80357575GRCh37Chr 17, 41244219: 41244222
1673BRCA1NM_ 007294.3(BRCA1): c.3329_ 3330delAG (p.Lys1110Thrfs)deletionPathogenicrs80357525GRCh37Chr 17, 41244218: 41244219
1674BRCA1NM_ 007294.3(BRCA1): c.3329delA (p.Lys1110Serfs)deletionPathogenicrs397509056GRCh37Chr 17, 41244219: 41244219
1675BRCA1NM_ 007294.3(BRCA1): c.3329dupA (p.Gln1111Alafs)duplicationPathogenicrs80357692GRCh37Chr 17, 41244219: 41244219
1676BRCA1NM_ 007294.3(BRCA1): c.3331C> T (p.Gln1111Ter)SNVPathogenicrs80357089GRCh37Chr 17, 41244217: 41244217
1677BRCA1NM_ 007294.3(BRCA1): c.3333_ 3336delAGAA (p.Gln1111Hisfs)deletionPathogenicrs397509057GRCh37Chr 17, 41244212: 41244215
1678BRCA1NM_ 007294.3(BRCA1): c.3333delA (p.Glu1112Asnfs)deletionPathogenicrs80357966GRCh37Chr 17, 41244215: 41244215
1679BRCA1NM_ 007294.3(BRCA1): c.3339T> G (p.Tyr1113Ter)SNVPathogenicrs80357421GRCh37Chr 17, 41244209: 41244209
1680BRCA1NM_ 007294.3(BRCA1): c.3340G> T (p.Glu1114Ter)SNVPathogenicrs80357278GRCh37Chr 17, 41244208: 41244208
1681BRCA1NM_ 007294.3(BRCA1): c.3342_ 3345delAGAA (p.Glu1115Terfs)deletionPathogenicrs397509058GRCh37Chr 17, 41244203: 41244206
1682BRCA1NM_ 007294.3(BRCA1): c.3343delG (p.Glu1115Lysfs)deletionPathogenicrs273899705GRCh37Chr 17, 41244205: 41244205
1683BRCA1NM_ 007294.3(BRCA1): c.3354_ 3355delGA (p.Gln1118Hisfs)deletionPathogenicrs397509059GRCh37Chr 17, 41244193: 41244194
1684BRCA1NM_ 007294.3(BRCA1): c.3359_ 3360delTT (p.Val1120Glufs)deletionPathogenicrs80357843GRCh37Chr 17, 41244188: 41244189
1685BRCA1NM_ 007294.3(BRCA1): c.3362delA (p.Asn1121Ilefs)deletionPathogenicrs80357865GRCh37Chr 17, 41244186: 41244186
1686BRCA1NM_ 007294.3(BRCA1): c.3365_ 3366delCA (p.Thr1122Argfs)deletionPathogenicrs80357892GRCh37Chr 17, 41244182: 41244183
1687BRCA1NM_ 007294.3(BRCA1): c.3375_ 3376delTC (p.Pro1126Ilefs)deletionPathogenicrs80357828GRCh37Chr 17, 41244172: 41244173
1688BRCA1NM_ 007294.3(BRCA1): c.3377delC (p.Pro1126Hisfs)deletionPathogenicrs397509061GRCh37Chr 17, 41244171: 41244171
1689BRCA1NM_ 007294.3(BRCA1): c.3390delA (p.Asp1131Ilefs)deletionPathogenicrs80357900GRCh37Chr 17, 41244158: 41244158
1690BRCA1NM_ 007294.3(BRCA1): c.3397_ 3398delTT (p.Leu1133Argfs)deletionPathogenicrs80357577GRCh37Chr 17, 41244150: 41244151
1691BRCA1NM_ 007294.3(BRCA1): c.3398T> A (p.Leu1133Ter)SNVPathogenicrs80356971GRCh37Chr 17, 41244150: 41244150
1692BRCA1NM_ 007294.3(BRCA1): c.3398T> G (p.Leu1133Ter)SNVPathogenicrs80356971GRCh37Chr 17, 41244150: 41244150
1693BRCA1NM_ 007294.3(BRCA1): c.3403C> T (p.Gln1135Ter)SNVPathogenicrs80357136GRCh37Chr 17, 41244145: 41244145
1694BRCA1NM_ 007294.3(BRCA1): c.3417delT (p.Ser1139Argfs)deletionPathogenicrs273899706GRCh37Chr 17, 41244131: 41244131
1695BRCA1NM_ 007294.3(BRCA1): c.3428delCinsTA (p.Ser1143Leufs)indelPathogenicrs397509066GRCh37Chr 17, 41244120: 41244120
1696BRCA1NM_ 007294.3(BRCA1): c.342_ 343delTC (p.Pro115Terfs)deletionPathogenicrs80357881GRCh37Chr 17, 41256237: 41256238
1697BRCA1NM_ 007294.3(BRCA1): c.3430C> T (p.Gln1144Ter)SNVPathogenicrs80357369GRCh37Chr 17, 41244118: 41244118
1698BRCA1NM_ 007294.3(BRCA1): c.3436_ 3439delTGTT (p.Cys1146Leufs)deletionPathogenicrs397509067GRCh37Chr 17, 41244109: 41244112
1699BRCA1NM_ 007294.3(BRCA1): c.3472G> T (p.Glu1158Ter)SNVPathogenicrs397509072GRCh37Chr 17, 41244076: 41244076
1700BRCA1NM_ 007294.3(BRCA1): c.3477_ 3479delAAAinsC (p.Lys1160Glyfs)indelPathogenicrs273899707GRCh37Chr 17, 41244069: 41244071
1701BRCA1NM_ 007294.3(BRCA1): c.3477_ 3480delAAAG (p.Ile1159Metfs)deletionPathogenicrs80357781GRCh37Chr 17, 41244068: 41244071
1702BRCA1NM_ 007294.3(BRCA1): c.3494_ 3495delTT (p.Phe1165Cysfs)deletionPathogenicrs397509076GRCh37Chr 17, 41244053: 41244054
1703BRCA1NM_ 007294.3(BRCA1): c.34C> T (p.Gln12Ter)SNVPathogenicrs80357134GRCh37Chr 17, 41276080: 41276080
1704BRCA1NM_ 007294.3(BRCA1): c.3503dupA (p.Asn1168Lysfs)duplicationPathogenicrs397509077GRCh37Chr 17, 41244045: 41244045
1705BRCA1NM_ 007294.3(BRCA1): c.3514G> T (p.Glu1172Ter)SNVPathogenicrs397509079GRCh37Chr 17, 41244034: 41244034
1706BRCA1NM_ 007294.3(BRCA1): c.3531delT (p.Phe1177Leufs)deletionPathogenicrs80357621GRCh37Chr 17, 41244017: 41244017
1707BRCA1NM_ 007294.3(BRCA1): c.3544C> T (p.Gln1182Ter)SNVPathogenicrs80357296GRCh37Chr 17, 41244004: 41244004
1708BRCA1NM_ 007294.3(BRCA1): c.3549_ 3550delAGinsT (p.Lys1183Asnfs)indelPathogenicrs273899709GRCh37Chr 17, 41243998: 41243999
1709BRCA1NM_ 007294.3(BRCA1): c.3553G> T (p.Glu1185Ter)SNVPathogenicrs397509081GRCh37Chr 17, 41243995: 41243995
1710BRCA1NM_ 007294.3(BRCA1): c.3569_ 3570delCT (p.Pro1190Glnfs)deletionPathogenicrs80357845GRCh37Chr 17, 41243978: 41243979
1711BRCA1NM_ 007294.3(BRCA1): c.3578dupT (p.Thr1194Hisfs)duplicationPathogenicrs397509083GRCh37Chr 17, 41243970: 41243970
1712BRCA1NM_ 007294.3(BRCA1): c.3580delA (p.Thr1194Profs)deletionPathogenicrs80357663GRCh37Chr 17, 41243968: 41243968
1713BRCA1NM_ 007294.3(BRCA1): c.3583delC (p.His1195Ilefs)deletionPathogenicrs273900710GRCh37Chr 17, 41243965: 41243965
1714BRCA1NM_ 007294.3(BRCA1): c.3586dupA (p.Thr1196Asnfs)duplicationPathogenicrs80357531GRCh37Chr 17, 41243962: 41243962
1715BRCA1NM_ 007294.3(BRCA1): c.3593T> A (p.Leu1198Ter)SNVPathogenicrs397509085GRCh37Chr 17, 41243955: 41243955
1716BRCA1NM_ 007294.3(BRCA1): c.3596_ 3602delCTCAGGG (p.Ala1199Valfs)deletionPathogenicrs397509086GRCh37Chr 17, 41243946: 41243952
1717BRCA1NM_ 007294.3(BRCA1): c.3598C> T (p.Gln1200Ter)SNVPathogenicrs62625307GRCh37Chr 17, 41243950: 41243950
1718BRCA1NM_ 007294.3(BRCA1): c.3619A> T (p.Lys1207Ter)SNVPathogenicrs80357455GRCh37Chr 17, 41243929: 41243929
1719BRCA1NM_ 007294.3(BRCA1): c.3624dupA (p.Leu1209Ilefs)duplicationPathogenicrs80357512GRCh37Chr 17, 41243924: 41243924
1720BRCA1NM_ 007294.3(BRCA1): c.3626delT (p.Leu1209Terfs)deletionPathogenicrs80357571GRCh37Chr 17, 41243922: 41243922
1721BRCA1NM_ 007294.3(BRCA1): c.3628delG (p.Glu1210Serfs)deletionPathogenicrs397509090GRCh37Chr 17, 41243920: 41243920
1722BRCA1NM_ 007294.3(BRCA1): c.3629_ 3630delAG (p.Glu1210Valfs)deletionPathogenicrs80357589GRCh37Chr 17, 41243918: 41243919
1723BRCA1NM_ 007294.3(BRCA1): c.3640G> T (p.Glu1214Ter)SNVPathogenicrs80356923GRCh37Chr 17, 41243908: 41243908
1724BRCA1NM_ 007294.3(BRCA1): c.3642_ 3643delGA (p.Asn1215Leufs)deletionPathogenicrs80357805GRCh37Chr 17, 41243905: 41243906
1725BRCA1NM_ 007294.3(BRCA1): c.3661G> T (p.Glu1221Ter)SNVPathogenicrs80357310GRCh37Chr 17, 41243887: 41243887
1726BRCA1NM_ 007294.3(BRCA1): c.3664G> T (p.Glu1222Ter)SNVPathogenicrs80357356GRCh37Chr 17, 41243884: 41243884
1727BRCA1NM_ 007294.3(BRCA1): c.3668_ 3671dupTTCC (p.Cys1225Serfs)duplicationPathogenicrs80357797GRCh37Chr 17, 41243877: 41243880
1728BRCA1NM_ 007294.3(BRCA1): c.3676_ 3679delTTCC (p.Phe1226Asnfs)deletionPathogenicrs80357671GRCh37Chr 17, 41243869: 41243872
1729BRCA1NM_ 007294.3(BRCA1): c.3693dupT (p.Gly1232Trpfs)duplicationPathogenicrs397509092GRCh37Chr 17, 41243855: 41243855
1730BRCA1NM_ 007294.3(BRCA1): c.3699delA (p.Val1234Terfs)deletionPathogenicrs80357873GRCh37Chr 17, 41243849: 41243849
1731BRCA1NM_ 007294.3(BRCA1): c.3704_ 3707delACAA (p.Asn1235Ilefs)deletionPathogenicrs397509094GRCh37Chr 17, 41243841: 41243844
1732BRCA1NM_ 007294.3(BRCA1): c.3704delA (p.Asn1235Thrfs)deletionPathogenicrs397509095GRCh37Chr 17, 41243844: 41243844
1733BRCA1NM_ 007294.3(BRCA1): c.3706_ 3707delAA (p.Asn1236Tyrfs)deletionPathogenicrs80357666GRCh37Chr 17, 41243841: 41243842
1734BRCA1NM_ 007294.3(BRCA1): c.3706_ 3713delAATATACC (p.Asn1236Phefs)deletionPathogenicrs80357552GRCh37Chr 17, 41243835: 41243842
1735BRCA1NM_ 007294.3(BRCA1): c.3710delT (p.Ile1237Asnfs)deletionPathogenicrs80357564GRCh37Chr 17, 41243838: 41243838
1736BRCA1NM_ 007294.3(BRCA1): c.3715_ 3717delTCTinsC (p.Ser1239Profs)indelPathogenicrs273900714GRCh37Chr 17, 41243831: 41243833
1737BRCA1NM_ 007294.3(BRCA1): c.3718C> T (p.Gln1240Ter)SNVPathogenicrs80356903GRCh37Chr 17, 41243830: 41243830
1738BRCA1NM_ 007294.3(BRCA1): c.3722_ 3740del19 (p.Ser1241Leufs)deletionPathogenicrs80359882GRCh37Chr 17, 41243808: 41243826
1739BRCA1NM_ 007294.3(BRCA1): c.3736delA (p.Thr1246Profs)deletionPathogenicrs80357578GRCh37Chr 17, 41243812: 41243812
1740BRCA1NM_ 007294.3(BRCA1): c.3753T> A (p.Cys1251Ter)SNVPathogenicrs397509098GRCh37Chr 17, 41243795: 41243795
1741BRCA1NM_ 007294.3(BRCA1): c.3756_ 3757delGT (p.Ser1253Terfs)deletionPathogenicrs397509099GRCh37Chr 17, 41243791: 41243792
1742BRCA1NM_ 007294.3(BRCA1): c.3759dupT (p.Lys1254Terfs)duplicationPathogenicrs80357687GRCh37Chr 17, 41243789: 41243789
1743BRCA1NM_ 007294.3(BRCA1): c.375_ 376insT (p.Gln126Serfs)insertionPathogenicrs397509101GRCh37Chr 17, 41256204: 41256205
1744BRCA1NM_ 007294.3(BRCA1): c.3760_ 3761insT (p.Lys1254Ilefs)insertionPathogenicrs80357986GRCh37Chr 17, 41243787: 41243788
1745BRCA1NM_ 007294.3(BRCA1): c.3762_ 3763delGA (p.Asn1255Hisfs)deletionPathogenicrs80357645GRCh37Chr 17, 41243785: 41243786
1746BRCA1NM_ 007294.3(BRCA1): c.3763_ 3764delAA (p.Asn1255Hisfs)deletionPathogenicrs397509103GRCh37Chr 17, 41243784: 41243785
1747BRCA1NM_ 007294.3(BRCA1): c.3774_ 3775delGA (p.Asn1259Phefs)deletionPathogenicrs397509106GRCh37Chr 17, 41243773: 41243774
1748BRCA1NM_ 007294.3(BRCA1): c.3779delT (p.Leu1260Tyrfs)deletionPathogenicrs80357798GRCh37Chr 17, 41243769: 41243769
1749BRCA1NM_ 007294.3(BRCA1): c.3782delT (p.Leu1261Tyrfs)deletionPathogenicrs80357545GRCh37Chr 17, 41243766: 41243766
1750BRCA1NM_ 007294.3(BRCA1): c.3785C> A (p.Ser1262Ter)SNVPathogenicrs80357269GRCh37Chr 17, 41243763: 41243763
1751BRCA1NM_ 007294.3(BRCA1): c.3794delA (p.Asn1265Ilefs)deletionPathogenicrs80357767GRCh37Chr 17, 41243754: 41243754
1752BRCA1NM_ 007294.3(BRCA1): c.37_ 40delAATG (p.Asn13Serfs)deletionPathogenicrs80357530GRCh37Chr 17, 41276074: 41276077
1753BRCA1NM_ 007294.3(BRCA1): c.3813dupT (p.Asn1272Terfs)duplicationPathogenicrs397509108GRCh37Chr 17, 41243735: 41243735
1754BRCA1NM_ 007294.3(BRCA1): c.3814_ 3815insT (p.Asn1272Ilefs)insertionPathogenicrs397509109GRCh37Chr 17, 41243733: 41243734
1755BRCA1NM_ 007294.3(BRCA1): c.3817C> T (p.Gln1273Ter)SNVPathogenicrs80357208GRCh37Chr 17, 41243731: 41243731
1756BRCA1NM_ 007294.3(BRCA1): c.3820delG (p.Val1274Terfs)deletionPathogenicrs397509110GRCh37Chr 17, 41243728: 41243728
1757BRCA1NM_ 007294.3(BRCA1): c.3820dupG (p.Val1274Glyfs)duplicationPathogenicrs80357616GRCh37Chr 17, 41243728: 41243728
1758BRCA1NM_ 007294.3(BRCA1): c.3839_ 3843delCTCAGinsAGGC (p.Ser1280Terfs)indelPathogenicrs273900717GRCh37Chr 17, 41243705: 41243709
1759BRCA1NM_ 007294.3(BRCA1): c.3841C> T (p.Gln1281Ter)SNVPathogenicrs80356866GRCh37Chr 17, 41243707: 41243707
1760BRCA1NM_ 007294.3(BRCA1): c.3841_ 3842delCA (p.Gln1281Glyfs)deletionPathogenicrs80357584GRCh37Chr 17, 41243706: 41243707
1761BRCA1NM_ 007294.3(BRCA1): c.3844delG (p.Glu1282Asnfs)deletionPathogenicrs397509113GRCh37Chr 17, 41243704: 41243704
1762BRCA1NM_ 007294.3(BRCA1): c.3856delA (p.Ser1286Valfs)deletionPathogenicrs80357855GRCh37Chr 17, 41243692: 41243692
1763BRCA1NM_ 007294.3(BRCA1): c.3862delG (p.Glu1288Lysfs)deletionPathogenicrs273900718GRCh37Chr 17, 41243686: 41243686
1764BRCA1NM_ 007294.3(BRCA1): c.3869_ 3870delAA (p.Lys1290Metfs)deletionPathogenicrs80357918GRCh37Chr 17, 41243678: 41243679
1765BRCA1NM_ 007294.3(BRCA1): c.3893C> A (p.Ser1298Ter)SNVPathogenicrs80357440GRCh37Chr 17, 41243655: 41243655
1766BRCA1NM_ 007294.3(BRCA1): c.3895C> T (p.Gln1299Ter)SNVPathogenicrs80357038GRCh37Chr 17, 41243653: 41243653
1767BRCA1NM_ 007294.3(BRCA1): c.3901_ 3902delAG (p.Ser1301Terfs)deletionPathogenicrs80357646GRCh37Chr 17, 41243646: 41243647
1768BRCA1NM_ 007294.3(BRCA1): c.3904G> T (p.Glu1302Ter)SNVPathogenicrs80357461GRCh37Chr 17, 41243644: 41243644
1769BRCA1NM_ 007294.3(BRCA1): c.390C> A (p.Tyr130Ter)SNVPathogenicrs80356888GRCh37Chr 17, 41256190: 41256190
1770BRCA1NM_ 007294.3(BRCA1): c.3910delG (p.Glu1304Lysfs)deletionPathogenicrs397509117GRCh37Chr 17, 41243638: 41243638
1771BRCA1NM_ 007294.3(BRCA1): c.3914delA (p.Asp1305Alafs)deletionPathogenicrs397509118GRCh37Chr 17, 41243634: 41243634
1772BRCA1NM_ 007294.3(BRCA1): c.3916_ 3917delTT (p.Leu1306Aspfs)deletionPathogenicrs80357678GRCh37Chr 17, 41243631: 41243632
1773BRCA1NM_ 007294.3(BRCA1): c.391A> T (p.Arg131Ter)SNVPathogenicrs80357207GRCh37Chr 17, 41256189: 41256189
1774BRCA1NM_ 007294.3(BRCA1): c.3926delA (p.Asn1309Ilefs)deletionPathogenicrs397509119GRCh37Chr 17, 41243622: 41243622
1775BRCA1NM_ 007294.3(BRCA1): c.3931_ 3934delAACA (p.Asn1311Profs)deletionPathogenicrs80357864GRCh37Chr 17, 41243614: 41243617
1776BRCA1NM_ 007294.3(BRCA1): c.3932delA (p.Asn1311Thrfs)deletionPathogenicrs80357504GRCh37Chr 17, 41243616: 41243616
1777BRCA1NM_ 007294.3(BRCA1): c.3964A> T (p.Lys1322Ter)SNVPathogenicrs80357343GRCh37Chr 17, 41243584: 41243584
1778BRCA1NM_ 007294.3(BRCA1): c.3966delA (p.Lys1322Asnfs)deletionPathogenicrs80357979GRCh37Chr 17, 41243582: 41243582
1779BRCA1NM_ 007294.3(BRCA1): c.3967C> T (p.Gln1323Ter)SNVPathogenicrs80357262GRCh37Chr 17, 41243581: 41243581
1780BRCA1NM_ 007294.3(BRCA1): c.3967delC (p.Gln1323Lysfs)deletionPathogenicrs397509122GRCh37Chr 17, 41243581: 41243581
1781BRCA1NM_ 007294.3(BRCA1): c.3972delG (p.Met1324Ilefs)deletionPathogenicrs80357987GRCh37Chr 17, 41243576: 41243576
1782BRCA1NM_ 007294.3(BRCA1): c.3973delA (p.Arg1325Glyfs)deletionPathogenicrs80357904GRCh37Chr 17, 41243575: 41243575
1783BRCA1NM_ 007294.3(BRCA1): c.3981delG (p.Gln1327Hisfs)deletionPathogenicrs397509123GRCh37Chr 17, 41243567: 41243567
1784BRCA1NM_ 007294.3(BRCA1): c.399_ 400delTG (p.Ala134Glnfs)deletionPathogenicrs80357568GRCh37Chr 17, 41256180: 41256181
1785BRCA1NM_ 007294.3(BRCA1): c.3G> T (p.Met1Ile)SNVPathogenicrs80357475GRCh37Chr 17, 41276111: 41276111
1786BRCA1NM_ 007294.3(BRCA1): c.4001delG (p.Gly1334Valfs)deletionPathogenicrs397509127GRCh37Chr 17, 41243547: 41243547
1787BRCA1NM_ 007294.3(BRCA1): c.4002_ 4005delTCTG (p.Leu1335Valfs)deletionPathogenicrs397509128GRCh37Chr 17, 41243543: 41243546
1788BRCA1NM_ 007294.3(BRCA1): c.4041_ 4042delAG (p.Gly1348Asnfs)deletionPathogenicrs80357727GRCh37Chr 17, 41243506: 41243507
1789BRCA1NM_ 007294.3(BRCA1): c.4043delG (p.Gly1348Glufs)deletionPathogenicrs397509130GRCh37Chr 17, 41243505: 41243505
1790BRCA1NM_ 007294.3(BRCA1): c.4049dupG (p.Glu1352Glyfs)duplicationPathogenicrs397509131GRCh37Chr 17, 41243499: 41243499
1791BRCA1NM_ 007294.3(BRCA1): c.4052T> A (p.Leu1351Ter)SNVPathogenicrs397509132GRCh37Chr 17, 41243496: 41243496
1792BRCA1NM_ 007294.3(BRCA1): c.4052dupT (p.Leu1351Phefs)duplicationPathogenicrs80357779GRCh37Chr 17, 41243496: 41243496
1793BRCA1NM_ 007294.3(BRCA1): c.4057G> T (p.Glu1353Ter)SNVPathogenicrs80357178GRCh37Chr 17, 41243491: 41243491
1794BRCA1NM_ 007294.3(BRCA1): c.4057_ 4061delGAAAA (p.Glu1353Terfs)deletionPathogenicrs397509133GRCh37Chr 17, 41243487: 41243491
1795BRCA1NM_ 007294.3(BRCA1): c.4062_ 4068delTAATCAA (p.Asn1354Lysfs)deletionPathogenicrs397509134GRCh37Chr 17, 41243480: 41243486
1796BRCA1NM_ 007294.3(BRCA1): c.4066_ 4069delCAAG (p.Gln1356Lysfs)deletionPathogenicrs397509135GRCh37Chr 17, 41243479: 41243482
1797BRCA1NM_ 007294.3(BRCA1): c.406dupA (p.Arg136Lysfs)duplicationPathogenicrs80357709GRCh37Chr 17, 41256174: 41256174
1798BRCA1NM_ 007294.3(BRCA1): c.4075C> T (p.Gln1359Ter)SNVPathogenicrs80357456GRCh37Chr 17, 41243473: 41243473
1799BRCA1NM_ 007294.3(BRCA1): c.4085delA (p.Asp1362Valfs)deletionPathogenicrs80357737GRCh37Chr 17, 41243463: 41243463
1800BRCA1NM_ 007294.3(BRCA1): c.4092_ 4093delCT (p.Leu1365Argfs)deletionPathogenicrs397509137GRCh37Chr 17, 41243455: 41243456
1801BRCA1NM_ 007294.3(BRCA1): c.4097-2A> GSNVPathogenicrs80358019GRCh37Chr 17, 41243051: 41243051
1802BRCA1NM_ 007294.3(BRCA1): c.4107_ 4110dupATCT (p.Gly1371Ilefs)duplicationPathogenicrs397509139GRCh37Chr 17, 41243036: 41243039
1803BRCA1NM_ 007294.3(BRCA1): c.4122_ 4123delTG (p.Ser1374Argfs)deletionPathogenicrs80357691GRCh37Chr 17, 41243023: 41243024
1804BRCA1NM_ 007294.3(BRCA1): c.4123G> T (p.Glu1375Ter)SNVPathogenicrs80357397GRCh37Chr 17, 41243023: 41243023
1805BRCA1NM_ 007294.3(BRCA1): c.412_ 418delCTACAGA (p.Leu138Valfs)deletionPathogenicrs80357816GRCh37Chr 17, 41256162: 41256168
1806BRCA1NM_ 007294.3(BRCA1): c.4136_ 4137delCT (p.Ser1379Terfs)deletionPathogenicrs397509141GRCh37Chr 17, 41243009: 41243010
1807BRCA1NM_ 007294.3(BRCA1): c.4158_ 4162delCTCTC (p.Ser1387Glufs)deletionPathogenicrs397509142GRCh37Chr 17, 41242984: 41242988
1808BRCA1NM_ 007294.3(BRCA1): c.415C> T (p.Gln139Ter)SNVPathogenicrs80357372GRCh37Chr 17, 41256165: 41256165
1809BRCA1NM_ 007294.3(BRCA1): c.4161_ 4162delTC (p.Gln1388Glufs)deletionPathogenicrs80357565GRCh37Chr 17, 41242984: 41242985
1810BRCA1NM_ 007294.3(BRCA1): c.4163_ 4166delAGAG (p.Gln1388Leufs)deletionPathogenicrs80357532GRCh37Chr 17, 41242980: 41242983
1811BRCA1NM_ 007294.3(BRCA1): c.4165_ 4166delAG (p.Ser1389Terfs)deletionPathogenicrs80357572GRCh37Chr 17, 41242980: 41242981
1812BRCA1NM_ 007294.3(BRCA1): c.4165_ 4166dupAG (p.Ser1389Argfs)duplicationPathogenicrs397509143GRCh37Chr 17, 41242980: 41242981
1813BRCA1NM_ 007294.3(BRCA1): c.4167_ 4168delTG (p.Ser1389Argfs)deletionPathogenicrs397509144GRCh37Chr 17, 41242978: 41242979
1814BRCA1NM_ 007294.3(BRCA1): c.4167_ 4170delTGAC (p.Ser1389Argfs)deletionPathogenicrs80357538GRCh37Chr 17, 41242976: 41242979
1815BRCA1NM_ 007294.3(BRCA1): c.4182_ 4183dupTC (p.Gln1395Leufs)duplicationPathogenicrs80357742GRCh37Chr 17, 41242963: 41242964
1816BRCA1NM_ 007294.3(BRCA1): c.4183C> T (p.Gln1395Ter)SNVPathogenicrs80357260GRCh37Chr 17, 41242963: 41242963
1817BRCA1NM_ 007294.3(BRCA1): c.4185+1G> TSNVPathogenicrs80358076GRCh37Chr 17, 41242960: 41242960
1818BRCA1NM_ 007294.3(BRCA1): c.4185G> A (p.Gln1395=)SNVPathogenicrs80356857GRCh37Chr 17, 41242961: 41242961
1819BRCA1NM_ 007294.3(BRCA1): c.4185_ 4185+3delGGTAdeletionPathogenicrs397509149GRCh37Chr 17, 41242958: 41242961
1820BRCA1NM_ 007294.3(BRCA1): c.4186C> T (p.Gln1396Ter)SNVPathogenicrs80357011GRCh37Chr 17, 41234592: 41234592
1821BRCA1NM_ 007294.3(BRCA1): c.4195_ 4196delAC (p.Thr1399Hisfs)deletionPathogenicrs80357649GRCh37Chr 17, 41234582: 41234583
1822BRCA1NM_ 007294.3(BRCA1): c.4201C> T (p.Gln1401Ter)SNVPathogenicrs397509151GRCh37Chr 17, 41234577: 41234577
1823BRCA1NM_ 007294.3(BRCA1): c.4210delC (p.Leu1404Terfs)deletionPathogenicrs80357765GRCh37Chr 17, 41234568: 41234568
1824BRCA1NM_ 007294.3(BRCA1): c.4222C> T (p.Gln1408Ter)SNVPathogenicrs80356989GRCh37Chr 17, 41234556: 41234556
1825BRCA1NM_ 007294.3(BRCA1): c.4228G> T (p.Glu1410Ter)SNVPathogenicrs397509152GRCh37Chr 17, 41234550: 41234550
1826BRCA1NM_ 007294.3(BRCA1): c.4240dupC (p.Leu1414Profs)duplicationPathogenicrs397509154GRCh3