1 |
CHEK2 |
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) |
SNV |
Pathogenic/Likely Pathogenic/Established Risk Allele
|
5603 |
rs137853011 |
GRCh37: 22:29091207-29091207 GRCh38: 22:28695219-28695219 |
2 |
APC |
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) |
SNV |
Pathogenic/Likely Pathogenic/Established Risk Allele; Risk Factor
|
822 |
rs1801155 |
GRCh37: 5:112175211-112175211 GRCh38: 5:112839514-112839514 |
3 |
ATM |
NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer) |
MICROSAT |
Pathogenic
|
231178 |
rs876659003 |
GRCh37: 11:108115603-108115604 GRCh38: 11:108244876-108244877 |
4 |
CDH1 |
NM_004360.5(CDH1):c.2293C>T (p.Gln765Ter) |
SNV |
Pathogenic
|
230451 |
rs876658575 |
GRCh37: 16:68862205-68862205 GRCh38: 16:68828302-68828302 |
5 |
MSH2 |
NM_000251.3(MSH2):c.1344del (p.Lys449fs) |
DEL |
Pathogenic
|
231037 |
rs876658918 |
GRCh37: 2:47672753-47672753 GRCh38: 2:47445614-47445614 |
6 |
BRCA2 |
NM_000059.4(BRCA2):c.9278del (p.Leu3093fs) |
DEL |
Pathogenic
|
230575 |
rs876658643 |
GRCh37: 13:32968845-32968845 GRCh38: 13:32394708-32394708 |
7 |
RAD50, TH2LCRR |
NM_005732.4(RAD50):c.3787C>T (p.Gln1263Ter) |
SNV |
Pathogenic
|
232259 |
rs876659654 |
GRCh37: 5:131977904-131977904 GRCh38: 5:132642212-132642212 |
8 |
PALB2 |
NM_024675.4(PALB2):c.3114G>A (p.Trp1038Ter) |
SNV |
Pathogenic
|
231919 |
rs778345761 |
GRCh37: 16:23625412-23625412 GRCh38: 16:23614091-23614091 |
9 |
BRCA2 |
NM_000059.4(BRCA2):c.7762_7764delinsTT (p.Ile2588fs) |
INDEL |
Pathogenic
|
233493 |
rs483353072 |
GRCh37: 13:32932023-32932025 GRCh38: 13:32357886-32357888 |
10 |
BRCA2 |
NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter) |
SNV |
Pathogenic
|
51041 |
rs80358391 |
GRCh37: 13:32893246-32893246 GRCh38: 13:32319109-32319109 |
11 |
ATM |
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter) |
SNV |
Pathogenic
|
233607 |
rs768362387 |
GRCh37: 11:108124573-108124573 GRCh38: 11:108253846-108253846 |
12 |
MSH6 |
NM_000179.3(MSH6):c.1421_1422dup (p.Gln475fs) |
DUP |
Pathogenic
|
89193 |
rs63750854 |
GRCh37: 2:48026541-48026542 GRCh38: 2:47799402-47799403 |
13 |
FLCN |
NM_144997.7(FLCN):c.235_238del (p.Ser79fs) |
DEL |
Pathogenic
|
3371 |
rs750146811 |
GRCh37: 17:17131214-17131217 GRCh38: 17:17227900-17227903 |
14 |
BRCA1 |
NM_007294.4(BRCA1):c.520del (p.Gln174fs) |
DEL |
Pathogenic
|
55460 |
rs80357639 |
GRCh37: 17:41251819-41251819 GRCh38: 17:43099802-43099802 |
15 |
ATM |
NM_000051.4(ATM):c.3335dup (p.Leu1113fs) |
DUP |
Pathogenic
|
232858 |
rs876660031 |
GRCh37: 11:108150266-108150267 GRCh38: 11:108279539-108279540 |
16 |
RAD50 |
NM_005732.4(RAD50):c.1393C>T (p.Gln465Ter) |
SNV |
Pathogenic
|
127997 |
rs587780150 |
GRCh37: 5:131925470-131925470 GRCh38: 5:132589778-132589778 |
17 |
BRCA2 |
NM_000059.4(BRCA2):c.4456_4459del (p.Val1486fs) |
DEL |
Pathogenic
|
51650 |
rs80359449 |
GRCh37: 13:32912946-32912949 GRCh38: 13:32338809-32338812 |
18 |
SDHD |
NM_003002.4(SDHD):c.129G>A (p.Trp43Ter) |
SNV |
Pathogenic
|
6913 |
rs104894308 |
GRCh37: 11:111958657-111958657 GRCh38: 11:112087933-112087933 |
19 |
BRCA1 |
NM_007294.4(BRCA1):c.3979C>T (p.Gln1327Ter) |
SNV |
Pathogenic
|
232360 |
rs876659720 |
GRCh37: 17:41243569-41243569 GRCh38: 17:43091552-43091552 |
20 |
BRCA1 |
NM_007294.4(BRCA1):c.3333del (p.Glu1112fs) |
DEL |
Pathogenic
|
54847 |
rs80357966 |
GRCh37: 17:41244215-41244215 GRCh38: 17:43092198-43092198 |
21 |
BRCA2 |
NM_000059.4(BRCA2):c.6044T>A (p.Leu2015Ter) |
SNV |
Pathogenic
|
156172 |
rs587776468 |
GRCh37: 13:32914536-32914536 GRCh38: 13:32340399-32340399 |
22 |
BRCA2 |
NM_000059.4(BRCA2):c.2835dup (p.Asp946fs) |
DUP |
Pathogenic
|
231432 |
rs80359356 |
GRCh37: 13:32911321-32911322 GRCh38: 13:32337184-32337185 |
23 |
BRCA1 |
NM_007294.4(BRCA1):c.2309C>A (p.Ser770Ter) |
SNV |
Pathogenic
|
54527 |
rs80357063 |
GRCh37: 17:41245239-41245239 GRCh38: 17:43093222-43093222 |
24 |
BARD1 |
NM_000465.4(BARD1):c.1996C>T (p.Gln666Ter) |
SNV |
Pathogenic
|
182051 |
rs730881422 |
GRCh37: 2:215595140-215595140 GRCh38: 2:214730416-214730416 |
25 |
BRCA1 |
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr) |
SNV |
Pathogenic
|
37392 |
rs80357498 |
GRCh37: 17:41267761-41267761 GRCh38: 17:43115744-43115744 |
26 |
ATM |
NM_000051.4(ATM):c.2295del (p.Asn765fs) |
DEL |
Pathogenic
|
230468 |
rs876658583 |
GRCh37: 11:108128252-108128252 GRCh38: 11:108257525-108257525 |
27 |
BRCA2 |
NM_000059.4(BRCA2):c.9069_9076del (p.Asn3024fs) |
DEL |
Pathogenic
|
52739 |
rs80359746 |
GRCh37: 13:32954001-32954008 GRCh38: 13:32379864-32379871 |
28 |
PALB2 |
NM_024675.4(PALB2):c.3165C>A (p.Tyr1055Ter) |
SNV |
Pathogenic
|
229713 |
rs876658157 |
GRCh37: 16:23625361-23625361 GRCh38: 16:23614040-23614040 |
29 |
CDH1 |
NM_004360.5(CDH1):c.1488_1494del (p.Glu497fs) |
DEL |
Pathogenic
|
229907 |
rs876658261 |
GRCh37: 16:68849584-68849590 GRCh38: 16:68815681-68815687 |
30 |
TP53 |
NM_000546.6(TP53):c.158G>A (p.Trp53Ter) |
SNV |
Pathogenic
|
230285 |
rs876658483 |
GRCh37: 17:7579529-7579529 GRCh38: 17:7676211-7676211 |
31 |
TP53 |
NM_000546.6(TP53):c.329G>C (p.Arg110Pro) |
SNV |
Pathogenic
|
233627 |
rs11540654 |
GRCh37: 17:7579358-7579358 GRCh38: 17:7676040-7676040 |
32 |
ATM, C11orf65 |
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs) |
MICROSAT |
Pathogenic
|
230200 |
rs1450394308 |
GRCh37: 11:108203578-108203582 GRCh38: 11:108332851-108332855 |
33 |
PALB2 |
NM_024675.4(PALB2):c.1378C>T (p.Gln460Ter) |
SNV |
Pathogenic
|
229742 |
rs876658166 |
GRCh37: 16:23646489-23646489 GRCh38: 16:23635168-23635168 |
34 |
BRCA2 |
NM_000059.4(BRCA2):c.9891_9894dup (p.Gln3299fs) |
DUP |
Pathogenic
|
182326 |
rs730881619 |
GRCh37: 13:32972540-32972541 GRCh38: 13:32398403-32398404 |
35 |
ATM, C11orf65 |
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter) |
SNV |
Pathogenic
|
233403 |
rs876660382 |
GRCh37: 11:108236083-108236083 GRCh38: 11:108365356-108365356 |
36 |
BRCA2 |
NM_000059.4(BRCA2):c.6446_6447del (p.Ile2149fs) |
DEL |
Pathogenic
|
233457 |
rs876660421 |
GRCh37: 13:32914938-32914939 GRCh38: 13:32340801-32340802 |
37 |
BRCA1 |
NM_007294.4(BRCA1):c.4357+1G>T |
SNV |
Pathogenic
|
55178 |
rs80358027 |
GRCh37: 17:41234420-41234420 GRCh38: 17:43082403-43082403 |
38 |
MLH1 |
NM_000249.4(MLH1):c.677+3A>G |
SNV |
Pathogenic
|
90315 |
rs267607780 |
GRCh37: 3:37053593-37053593 GRCh38: 3:37012102-37012102 |
39 |
ATM |
NM_000051.4(ATM):c.802C>T (p.Gln268Ter) |
SNV |
Pathogenic
|
188961 |
rs557012154 |
GRCh37: 11:108115654-108115654 GRCh38: 11:108244927-108244927 |
40 |
APC |
NM_000038.6(APC):c.7715C>G (p.Ser2572Ter) |
SNV |
Pathogenic
|
231654 |
rs876659280 |
GRCh37: 5:112179006-112179006 GRCh38: 5:112843309-112843309 |
41 |
TP53 |
NM_000546.6(TP53):c.818G>C (p.Arg273Pro) |
SNV |
Pathogenic
|
231060 |
rs28934576 |
GRCh37: 17:7577120-7577120 GRCh38: 17:7673802-7673802 |
42 |
MUTYH |
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) |
SNV |
Pathogenic
|
5297 |
rs121908381 |
GRCh37: 1:45796892-45796892 GRCh38: 1:45331220-45331220 |
43 |
BRCA2 |
NM_000059.4(BRCA2):c.518del (p.Gly173Valfs) |
DEL |
Pathogenic
|
37949 |
rs80359492 |
GRCh37: 13:32900635-32900635 GRCh38: 13:32326498-32326498 |
44 |
PALB2 |
NM_024675.4(PALB2):c.745_749del (p.Pro249fs) |
DEL |
Pathogenic
|
231731 |
rs876659326 |
GRCh37: 16:23647118-23647122 GRCh38: 16:23635797-23635801 |
45 |
BRCA2 |
NM_000059.4(BRCA2):c.6990dup (p.Thr2331fs) |
DUP |
Pathogenic
|
230814 |
rs876658789 |
GRCh37: 13:32921014-32921015 GRCh38: 13:32346877-32346878 |
46 |
BRCA2 |
NM_000059.4(BRCA2):c.1278del (p.Asp427fs) |
DEL |
Pathogenic
|
51094 |
rs80359274 |
GRCh37: 13:32906889-32906889 GRCh38: 13:32332752-32332752 |
47 |
ATM, C11orf65 |
NM_000051.4(ATM):c.9001_9002del (p.Ser3001fs) |
MICROSAT |
Pathogenic
|
232841 |
rs876660022 |
GRCh37: 11:108236063-108236064 GRCh38: 11:108365336-108365337 |
48 |
BRCA1 |
NM_007294.4(BRCA1):c.5152+1G>A |
SNV |
Pathogenic
|
125768 |
rs80358094 |
GRCh37: 17:41215890-41215890 GRCh38: 17:43063873-43063873 |
49 |
MSH6 |
NM_000179.3(MSH6):c.3311_3312del (p.Phe1104fs) |
DEL |
Pathogenic
|
89370 |
rs267608092 |
GRCh37: 2:48030692-48030693 GRCh38: 2:47803553-47803554 |
50 |
BRCA2 |
NM_000059.4(BRCA2):c.9093_9094delinsG (p.Thr3033fs) |
INDEL |
Pathogenic
|
233628 |
rs876660532 |
GRCh37: 13:32954026-32954027 GRCh38: 13:32379889-32379890 |