PMID: 30287823

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature communications
Y Momozawa, Y Iwasaki, MT Parsons, Y Kamatani, A Takahashi, C Tamura, T Katagiri, T Yoshida, S Nakamura, K Sugano, Y Miki, M Hirata, K Matsuda, AB Spurdle, M Kubo
2018-10-04

1442 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
17-29559864-A-T NF1 c.3461A>T p.Asn1154Ile Missense 26/57 -
17-29559864-A-G NF1 c.3461A>G p.Asn1154Ser Missense 26/57 -
11-108160359-T-C ATM c.4267T>C p.Cys1423Arg Missense 29/63 -
13-32912812-A-C BRCA2 c.4320A>C p.Lys1440Asn Missense 11/27 -
17-41243501-C-T BRCA1 c.4047G>A p.Thr1349Thr Synonymous 10/23 -
13-32906833-C-T BRCA2 c.1218C>T p.Ala406Ala Synonymous 10/27 -
13-32906833-C-G BRCA2 c.1218C>G p.Ala406Ala Synonymous 10/27 -
16-68867382-G-A CDH1 c.2629G>A p.Gly877Arg Missense 16/16 -
22-29121019-G-A CHEK2 c.667C>T p.Arg223Cys Missense 5/16 -
17-7578406-C-A TP53 c.524G>T p.Arg175Leu Missense 5/11 -
11-108099994-A-C ATM c.275A>C p.Lys92Thr Missense 4/63 -
17-41222975-C-T BRCA1 c.4956G>A p.Met1652Ile Missense 15/23 -
17-29508775-G-T NF1 c.702G>T p.Leu234Leu Synonymous 7/57 -
11-108173629-A-T ATM c.5369A>T p.Asp1790Val Missense 36/63 -
11-108173629-A-G ATM c.5369A>G p.Asp1790Gly Missense 36/63 -
17-29586143-C-T NF1 c.4363C>T p.Arg1455Cys Missense 32/57 -
17-29701104-C-T NF1 c.8388C>T p.Ser2796Ser Synonymous 57/57 -
11-108192057-G-A ATM c.6482G>A p.Arg2161His Missense 45/63 -
13-32912670-C-T BRCA2 c.4178C>T p.Ala1393Val Missense 11/27 -
13-32912670-C-G BRCA2 c.4178C>G p.Ala1393Gly Missense 11/27 -
17-41209095-G-T BRCA1 c.5251C>A p.Arg1751Arg Synonymous 19/23 -
19-1220473-C-T STK11 c.566C>T p.Thr189Ile Missense 4/10 -
17-7577538-C-A TP53 c.743G>T p.Arg248Leu Missense 7/11 -
17-7577538-C-G TP53 c.743G>C p.Arg248Pro Missense 7/11 -
16-68844171-C-A CDH1 c.759C>A p.Thr253Thr Synonymous 6/16 -
16-68844171-C-T CDH1 c.759C>T p.Thr253Thr Synonymous 6/16 -
16-68844171-C-G CDH1 c.759C>G p.Thr253Thr Synonymous 6/16 -
13-32912553-C-T BRCA2 c.4061C>T p.Thr1354Met Missense 11/27 -
16-68835678-G-A CDH1 c.269G>A p.Arg90Gln Missense 3/16 -
11-108141873-C-G ATM c.2921C>G p.Ser974Cys Missense 19/63 -
11-108141873-C-A ATM c.2921C>A p.Ser974Tyr Missense 19/63 -
11-108141873-C-T ATM c.2921C>T p.Ser974Phe Missense 19/63 -
17-41219701-G-A BRCA1 c.4998C>T p.Tyr1666Tyr Synonymous 16/23 -
17-29552200-A-G NF1 c.1933A>G p.Met645Val Missense 17/57 -
16-68857343-G-A CDH1 c.1978G>A p.Val660Met Missense 13/16 -
13-32906626-C-T BRCA2 c.1011C>T p.Asn337Asn Synonymous 10/27 -
22-29085152-A-T CHEK2 c.1642T>A p.Ser548Thr Missense 15/16 -
22-29083950-G-A CHEK2 c.1696C>T p.Arg566Cys Missense 16/16 -
17-29657433-C-T NF1 c.5666C>T p.Ser1889Phe Missense 38/57 -
13-32954009-C-T BRCA2 c.9076C>T p.Gln3026* Nonsense 23/27 -
16-23646488-T-C PALB2 c.1379A>G p.Gln460Arg Missense 4/13 -
17-29585395-G-T NF1 c.4144G>T p.Gly1382Cys Missense 31/57 -
17-29585395-G-A NF1 c.4144G>A p.Gly1382Ser Missense 31/57 -
17-29556373-C-T NF1 c.2740C>T p.Arg914Trp Missense 21/57 -
17-41245466-G-A BRCA1 c.2082C>T p.Ser694Ser Synonymous 10/23 -
11-108139302-C-T ATM c.2804C>T p.Thr935Met Missense 18/63 -
11-108139302-C-A ATM c.2804C>A p.Thr935Lys Missense 18/63 -
11-108139302-C-G ATM c.2804C>G p.Thr935Arg Missense 18/63 -
17-41215349-C-G BRCA1 c.5193+1G>C - IntronicSNV - 18/22
17-41215349-C-A BRCA1 c.5193+1G>T - IntronicSNV - 18/22
17-41215349-C-T BRCA1 c.5193+1G>A - IntronicSNV - 18/22
17-41199659-C-T BRCA1 c.5467+1G>A - IntronicSNV - 22/22
16-23646194-A-C PALB2 c.1673T>G p.Ile558Ser Missense 4/13 -
16-23646192-G-A PALB2 c.1675C>T p.Gln559* Nonsense 4/13 -
13-32971138-C-T BRCA2 c.9605C>T p.Pro3202Leu Missense 26/27 -
13-32906958-G-A BRCA2 c.1343G>A p.Arg448His Missense 10/27 -
11-108155170-G-A ATM c.3963G>A p.Met1321Ile Missense 26/63 -
13-32911438-A-C BRCA2 c.2946A>C p.Ile982Ile Synonymous 11/27 -
17-29677247-A-T NF1 c.7305A>T p.Lys2435Asn Missense 49/57 -
13-32911438-A-G BRCA2 c.2946A>G p.Ile982Met Missense 11/27 -
17-29701168-G-A NF1 c.8452G>A p.Val2818Met Missense 57/57 -
19-1226491-C-T STK11 c.1147C>T p.Arg383Cys Missense 9/10 -
16-68847351-G-A CDH1 c.1273G>A p.Val425Ile Missense 9/16 -
16-68847351-G-C CDH1 c.1273G>C p.Val425Leu Missense 9/16 -
17-29677247-A-G NF1 c.7305A>G p.Lys2435Lys Synonymous 49/57 -
17-29677247-A-C NF1 c.7305A>C p.Lys2435Asn Missense 49/57 -
19-1207176-C-T STK11 c.264C>T p.Ile88Ile Synonymous 1/10 -
16-68847350-C-T CDH1 c.1272C>T p.Val424Val Synonymous 9/16 -
22-29095882-G-A CHEK2 c.1081C>T p.Arg361Cys Missense 10/16 -
17-29661908-T-C NF1 c.5802T>C p.Asn1934Asn Synonymous 39/57 -
11-108142059-A-C ATM c.3003A>C p.Leu1001Leu Synonymous 20/63 -
11-108142059-A-G ATM c.3003A>G p.Leu1001Leu Synonymous 20/63 -
19-1207176-C-A STK11 c.264C>A p.Ile88Ile Synonymous 1/10 -
22-29121230-C-A CHEK2 c.573+1G>T - IntronicSNV - 4/15
17-41256153-C-G BRCA1 c.427G>C p.Glu143Gln Missense 6/23 -
22-29121230-C-T CHEK2 c.573+1G>A - IntronicSNV - 4/15
17-29533260-C-T NF1 c.1263C>T p.Ser421Ser Synonymous 12/57 -
17-41245067-T-G BRCA1 c.2481A>C p.Glu827Asp Missense 10/23 -
17-41222989-T-G BRCA1 c.4942A>C p.Lys1648Gln Missense 15/23 -
17-41222989-T-C BRCA1 c.4942A>G p.Lys1648Glu Missense 15/23 -
13-32914477-C-T BRCA2 c.5985C>T p.Asn1995Asn Synonymous 11/27 -
17-41245067-T-C BRCA1 c.2481A>G p.Glu827Glu Synonymous 10/23 -
13-32911907-A-G BRCA2 c.3415A>G p.Lys1139Glu Missense 11/27 -
11-108192097-C-A ATM c.6522C>A p.Ser2174Arg Missense 45/63 -
16-68867397-G-A CDH1 c.2644G>A p.Asp882Asn Missense 16/16 -
13-32911907-A-C BRCA2 c.3415A>C p.Lys1139Gln Missense 11/27 -
13-32937638-C-T BRCA2 c.8299C>T p.Pro2767Ser Missense 18/27 -
22-29092948-G-A CHEK2 c.1165C>T p.Arg389Cys Missense 11/16 -
17-29684090-G-A NF1 c.7788G>A p.Ala2596Ala Synonymous 52/57 -
11-108123554-C-T ATM c.1813C>T p.His605Tyr Missense 12/63 -
13-32893422-A-G BRCA2 c.276A>G p.Gln92Gln Synonymous 3/27 -
17-41243908-C-A BRCA1 c.3640G>T p.Glu1214* Nonsense 10/23 -
17-29556923-A-G NF1 c.2921A>G p.Asn974Ser Missense 22/57 -
13-32929127-A-G BRCA2 c.7137A>G p.Gly2379Gly Synonymous 14/27 -
11-108153554-T-C ATM c.3694T>C p.Ser1232Pro Missense 25/63 -
22-29092948-G-T CHEK2 c.1165C>A p.Arg389Ser Missense 11/16 -
17-29652944-A-G NF1 c.4879A>G p.Thr1627Ala Missense 36/57 -
13-32968954-C-G BRCA2 c.9385C>G p.Pro3129Ala Missense 25/27 -
13-32968954-C-T BRCA2 c.9385C>T p.Pro3129Ser Missense 25/27 -
13-32915264-G-A BRCA2 c.6772G>A p.Glu2258Lys Missense 11/27 -
19-1220703-G-A STK11 c.721G>A p.Ala241Thr Missense 5/10 -
16-68867274-G-A CDH1 c.2521G>A p.Glu841Lys Missense 16/16 -
17-29657433-C-G NF1 c.5666C>G p.Ser1889Cys Missense 38/57 -
13-32913457-C-G BRCA2 c.4965C>G p.Tyr1655* Nonsense 11/27 -
13-32913457-C-A BRCA2 c.4965C>A p.Tyr1655* Nonsense 11/27 -
11-108115728-G-A ATM c.876G>A p.Pro292Pro Synonymous 7/63 -
16-23634405-G-A PALB2 c.2881C>T p.Leu961Leu Synonymous 9/13 -
17-29588752-G-A NF1 c.4538G>A p.Arg1513Gln Missense 34/57 -
16-23634405-G-T PALB2 c.2881C>A p.Leu961Met Missense 9/13 -
11-108142115-C-T ATM c.3059C>T p.Thr1020Ile Missense 20/63 -
16-23641346-G-A PALB2 c.2129C>T p.Thr710Met Missense 5/13 -
17-41245262-T-A BRCA1 c.2286A>T p.Arg762Ser Missense 10/23 -
17-41245262-T-C BRCA1 c.2286A>G p.Arg762Arg Synonymous 10/23 -
13-32920978-C-G BRCA2 c.6952C>G p.Arg2318Gly Missense 13/27 -
13-32920978-C-T BRCA2 c.6952C>T p.Arg2318* Nonsense 13/27 -
17-29546036-A-G NF1 c.1541A>G p.Gln514Arg Missense 14/57 -
16-23647133-G-A PALB2 c.734C>T p.Ala245Val Missense 4/13 -
17-41251834-G-A BRCA1 c.505C>T p.Gln169* Nonsense 7/23 -
16-23632742-C-A PALB2 c.3054G>T p.Glu1018Asp Missense 10/13 -
16-23632742-C-G PALB2 c.3054G>C p.Glu1018Asp Missense 10/13 -
19-1220703-G-T STK11 c.721G>T p.Ala241Ser Missense 5/10 -
17-29557285-C-T NF1 c.2998C>T p.Arg1000Cys Missense 23/57 -
13-32929041-G-A BRCA2 c.7051G>A p.Ala2351Thr Missense 14/27 -
13-32929041-G-T BRCA2 c.7051G>T p.Ala2351Ser Missense 14/27 -
13-32929041-G-C BRCA2 c.7051G>C p.Ala2351Pro Missense 14/27 -
11-108164152-G-A ATM c.4724G>A p.Arg1575His Missense 31/63 -
16-23632772-G-A PALB2 c.3024C>T p.Pro1008Pro Synonymous 10/13 -
17-41223165-C-T BRCA1 c.4766G>A p.Arg1589His Missense 15/23 -
16-23632772-G-C PALB2 c.3024C>G p.Pro1008Pro Synonymous 10/13 -
17-7578522-T-A TP53 c.408A>T p.Gln136His Missense 5/11 -
13-32913870-A-T BRCA2 c.5378A>T p.Asn1793Ile Missense 11/27 -
19-1221961-C-T STK11 c.876C>T p.Tyr292Tyr Synonymous 7/10 -
16-23619228-C-T PALB2 c.3307G>A p.Val1103Met Missense 12/13 -
19-1223107-C-T STK11 c.1044C>T p.Asp348Asp Synonymous 8/10 -
16-23619228-C-G PALB2 c.3307G>C p.Val1103Leu Missense 12/13 -
17-41223202-A-G BRCA1 c.4729T>C p.Ser1577Pro Missense 15/23 -
17-29657473-G-T NF1 c.5706G>T p.Thr1902Thr Synonymous 38/57 -
13-32937504-C-A BRCA2 c.8165C>A p.Thr2722Lys Missense 18/27 -
11-108115589-A-G ATM c.737A>G p.Asn246Ser Missense 7/63 -
16-23619284-G-A PALB2 c.3251C>T p.Ser1084Leu Missense 12/13 -
11-108143485-A-T ATM c.3190A>T p.Met1064Leu Missense 22/63 -
11-108143485-A-G ATM c.3190A>G p.Met1064Val Missense 22/63 -
17-41244007-C-T BRCA1 c.3541G>A p.Val1181Ile Missense 10/23 -
17-29587459-C-T NF1 c.4440C>T p.Asp1480Asp Synonymous 33/57 -
19-1207008-C-T STK11 c.96C>T p.Thr32Thr Synonymous 1/10 -
19-1207008-C-G STK11 c.96C>G p.Thr32Thr Synonymous 1/10 -
16-68862090-G-A CDH1 c.2178G>A p.Leu726Leu Synonymous 14/16 -
17-7578437-G-A TP53 c.493C>T p.Gln165* Nonsense 5/11 -
16-68842610-A-C CDH1 c.546A>C p.Lys182Asn Missense 5/16 -
17-7579886-G-C TP53 c.27C>G p.Ser9Arg Missense 2/11 -
16-23641778-C-T PALB2 c.1697G>A p.Arg566His Missense 5/13 -
16-23649398-C-A PALB2 c.101G>T p.Arg34Leu Missense 2/13 -
13-32913070-A-G BRCA2 c.4578A>G p.Thr1526Thr Synonymous 11/27 -
11-108196240-C-G ATM c.6776C>G p.Ser2259Cys Missense 46/63 -
17-41258471-A-G BRCA1 c.212+2T>C - IntronicSNV - 4/22
13-32914175-G-C BRCA2 c.5683G>C p.Glu1895Gln Missense 11/27 -
17-7579886-G-A TP53 c.27C>T p.Ser9Ser Synonymous 2/11 -
13-32913966-C-T BRCA2 c.5474C>T p.Ala1825Val Missense 11/27 -
17-29587401-T-C NF1 c.4382T>C p.Ile1461Thr Missense 33/57 -
17-29553485-G-A NF1 c.2034G>A p.Pro678Pro Synonymous 18/57 -
17-29553485-G-C NF1 c.2034G>C p.Pro678Pro Synonymous 18/57 -
13-32900706-G-C BRCA2 c.587G>C p.Ser196Thr Missense 7/27 -
11-108137926-G-C ATM c.2495G>C p.Arg832Pro Missense 17/63 -
11-108236132-G-A ATM c.9068G>A p.Gly3023Asp Missense 63/63 -
11-108137926-G-A ATM c.2495G>A p.Arg832His Missense 17/63 -
11-108124595-A-G ATM c.1953A>G p.Leu651Leu Synonymous 13/63 -
16-23647133-G-C PALB2 c.734C>G p.Ala245Gly Missense 4/13 -
17-29653162-G-T NF1 c.5097G>T p.Glu1699Asp Missense 36/57 -
19-1226627-C-G STK11 c.1283C>G p.Ser428Trp Missense 9/10 -
11-108137934-G-T ATM c.2503G>T p.Val835Leu Missense 17/63 -
11-108173622-G-A ATM c.5362G>A p.Gly1788Ser Missense 36/63 -
16-23646813-C-G PALB2 c.1054G>C p.Glu352Gln Missense 4/13 -
13-32968840-G-A BRCA2 c.9271G>A p.Val3091Ile Missense 25/27 -
22-29090043-C-T CHEK2 c.1567G>A p.Ala523Thr Missense 14/16 -
16-68845758-G-A CDH1 c.1004G>A p.Arg335Gln Missense 7/16 -
17-29560213-G-A NF1 c.3690G>A p.Val1230Val Synonymous 27/57 -
17-29560213-G-T NF1 c.3690G>T p.Val1230Val Synonymous 27/57 -
17-41267763-C-A BRCA1 c.114G>T p.Lys38Asn Missense 3/23 -
19-1222991-C-T STK11 c.928C>T p.Arg310Trp Missense 8/10 -
16-68847301-C-T CDH1 c.1223C>T p.Ala408Val Missense 9/16 -
17-41245669-C-T BRCA1 c.1879G>A p.Val627Ile Missense 10/23 -
17-29654819-C-A NF1 c.5508C>A p.Ile1836Ile Synonymous 37/57 -
17-29654819-C-T NF1 c.5508C>T p.Ile1836Ile Synonymous 37/57 -
19-1207063-A-C STK11 c.151A>C p.Met51Leu Missense 1/10 -
11-108163375-G-T ATM c.4466G>T p.Arg1489Leu Missense 30/63 -
16-23641218-G-A PALB2 c.2257C>T p.Arg753* Nonsense 5/13 -
13-32912008-G-T BRCA2 c.3516G>T p.Ser1172Ser Synonymous 11/27 -
17-29546043-C-G NF1 c.1548C>G p.Pro516Pro Synonymous 14/57 -
17-29546043-C-T NF1 c.1548C>T p.Pro516Pro Synonymous 14/57 -
16-68846049-G-A CDH1 c.1020G>A p.Thr340Thr Synonymous 8/16 -
13-32929011-C-G BRCA2 c.7021C>G p.Arg2341Gly Missense 14/27 -
16-68847301-C-G CDH1 c.1223C>G p.Ala408Gly Missense 9/16 -
11-108163375-G-A ATM c.4466G>A p.Arg1489His Missense 30/63 -
16-23641218-G-T PALB2 c.2257C>A p.Arg753Arg Synonymous 5/13 -
11-108155144-G-C ATM c.3937G>C p.Glu1313Gln Missense 26/63 -
22-29085174-A-G CHEK2 c.1620T>C p.Asp540Asp Synonymous 15/16 -
13-32911748-A-G BRCA2 c.3256A>G p.Ile1086Val Missense 11/27 -
16-68846049-G-T CDH1 c.1020G>T p.Thr340Thr Synonymous 8/16 -
11-108206576-G-T ATM c.8156G>T p.Arg2719Leu Missense 56/63 -
10-89690828-G-T PTEN c.235G>T p.Ala79Ser Missense 4/9 -
10-89690828-G-A PTEN c.235G>A p.Ala79Thr Missense 4/9 -
16-68862193-G-A CDH1 c.2281G>A p.Gly761Arg Missense 14/16 -
11-108150266-T-G ATM c.3333T>G p.Leu1111Leu Synonymous 23/63 -
16-23649273-G-C PALB2 c.109C>G p.Arg37Gly Missense 3/13 -
13-32906422-A-G BRCA2 c.807A>G p.Thr269Thr Synonymous 10/27 -
13-32906422-A-T BRCA2 c.807A>T p.Thr269Thr Synonymous 10/27 -
13-32912806-C-T BRCA2 c.4314C>T p.Val1438Val Synonymous 11/27 -
11-108124759-C-T ATM c.2117C>T p.Ser706Leu Missense 13/63 -
22-29126425-C-T CHEK2 c.431G>A p.Arg144Gln Missense 3/16 -
22-29092948-G-C CHEK2 c.1165C>G p.Arg389Gly Missense 11/16 -
17-7578540-G-T TP53 c.390C>A p.Leu130Leu Synonymous 5/11 -
19-1226628-G-C STK11 c.1284G>C p.Ser428Ser Synonymous 9/10 -
19-1226628-G-A STK11 c.1284G>A p.Ser428Ser Synonymous 9/10 -
13-32911295-G-T BRCA2 c.2803G>T p.Asp935Tyr Missense 11/27 -
13-32911295-G-C BRCA2 c.2803G>C p.Asp935His Missense 11/27 -
11-108098388-C-T ATM c.37C>T p.Arg13Cys Missense 2/63 -
11-108216597-G-A ATM c.8546G>A p.Arg2849Gln Missense 58/63 -
11-108175456-C-G ATM c.5551C>G p.Leu1851Val Missense 37/63 -
11-108216597-G-C ATM c.8546G>C p.Arg2849Pro Missense 58/63 -
13-32900694-T-C BRCA2 c.575T>C p.Met192Thr Missense 7/27 -
13-32913346-T-A BRCA2 c.4854T>A p.Asp1618Glu Missense 11/27 -
13-32907428-A-AA BRCA2 c.1813dupA p.Ile605Asnfs*11 Frameshift 10/27 -
19-1220599-C-G STK11 c.617C>G p.Ala206Gly Missense 5/10 -
13-32954213-C-T BRCA2 c.9187C>T p.Pro3063Ser Missense 24/27 -
11-108180917-T-G ATM c.5793T>G p.Ala1931Ala Synonymous 39/63 -
13-32911042-A-G BRCA2 c.2550A>G p.Gln850Gln Synonymous 11/27 -
13-32945234-G-A BRCA2 c.8629G>A p.Glu2877Lys Missense 20/27 -
13-32945234-G-T BRCA2 c.8629G>T p.Glu2877* Nonsense 20/27 -
17-7577108-C-T TP53 c.830G>A p.Cys277Tyr Missense 8/11 -
13-32914915-T-G BRCA2 c.6423T>G p.Gly2141Gly Synonymous 11/27 -
16-68849575-T-G CDH1 c.1478T>G p.Val493Gly Missense 10/16 -
16-23646194-A-G PALB2 c.1673T>C p.Ile558Thr Missense 4/13 -
13-32914046-G-T BRCA2 c.5554G>T p.Val1852Phe Missense 11/27 -
17-29661953-A-G NF1 c.5847A>G p.Arg1949Arg Synonymous 39/57 -
17-29654671-C-A NF1 c.5360C>A p.Thr1787Lys Missense 37/57 -
22-29130495-T-C CHEK2 c.215A>G p.Tyr72Cys Missense 2/16 -
22-29130495-T-G CHEK2 c.215A>C p.Tyr72Ser Missense 2/16 -
11-108158434-C-T ATM c.4101C>T p.Asp1367Asp Synonymous 27/63 -
17-29585493-C-T NF1 c.4242C>T p.Ile1414Ile Synonymous 31/57 -
19-1220599-C-T STK11 c.617C>T p.Ala206Val Missense 5/10 -
17-41244665-G-A BRCA1 c.2883C>T p.Asn961Asn Synonymous 10/23 -
17-7577108-C-A TP53 c.830G>T p.Cys277Phe Missense 8/11 -
19-1223125-C-T STK11 c.1062C>T p.Phe354Phe Synonymous 8/10 -
19-1223125-C-G STK11 c.1062C>G p.Phe354Leu Missense 8/10 -
16-68849575-T-C CDH1 c.1478T>C p.Val493Ala Missense 10/16 -
13-32914046-G-C BRCA2 c.5554G>C p.Val1852Leu Missense 11/27 -
13-32914046-G-A BRCA2 c.5554G>A p.Val1852Ile Missense 11/27 -
11-108170516-C-T ATM c.5081C>T p.Ala1694Val Missense 34/63 -
11-108170516-C-G ATM c.5081C>G p.Ala1694Gly Missense 34/63 -
17-29559110-A-G NF1 c.3217A>G p.Met1073Val Missense 25/57 -
22-29121016-G-A CHEK2 c.670C>T p.Arg224Cys Missense 5/16 -
22-29121016-G-C CHEK2 c.670C>G p.Arg224Gly Missense 5/16 -
13-32914995-G-C BRCA2 c.6503G>C p.Gly2168Ala Missense 11/27 -
13-32914995-G-A BRCA2 c.6503G>A p.Gly2168Glu Missense 11/27 -
13-32914632-A-G BRCA2 c.6140A>G p.Tyr2047Cys Missense 11/27 -
16-23619203-G-A PALB2 c.3332C>T p.Pro1111Leu Missense 12/13 -
11-108202221-A-G ATM c.7566A>G p.Gln2522Gln Synonymous 51/63 -
17-7577091-G-T TP53 c.847C>A p.Arg283Ser Missense 8/11 -
17-7577091-G-A TP53 c.847C>T p.Arg283Cys Missense 8/11 -
22-29091225-C-G CHEK2 c.1394G>C p.Ser465Thr Missense 13/16 -
17-7579885-C-G TP53 c.28G>C p.Val10Leu Missense 2/11 -
13-32907504-C-T BRCA2 c.1889C>T p.Thr630Ile Missense 10/27 -
17-41267762-A-T BRCA1 c.115T>A p.Cys39Ser Missense 3/23 -
17-41267762-A-G BRCA1 c.115T>C p.Cys39Arg Missense 3/23 -
17-41197729-T-C BRCA1 c.5558A>G p.Tyr1853Cys Missense 23/23 -
17-41242960-C-T BRCA1 c.4185+1G>A - IntronicSNV - 11/22
13-32910982-C-G BRCA2 c.2490C>G p.Asn830Lys Missense 11/27 -
13-32912306-A-G BRCA2 c.3814A>G p.Met1272Val Missense 11/27 -
16-23641409-G-T PALB2 c.2066C>A p.Ser689* Nonsense 5/13 -
17-29657473-G-A NF1 c.5706G>A p.Thr1902Thr Synonymous 38/57 -
13-32914606-T-C BRCA2 c.6114T>C p.His2038His Synonymous 11/27 -
10-89711873-A-G PTEN c.493-2A>G - IntronicSNV - 5/8
16-68856080-C-G CDH1 c.1888C>G p.Leu630Val Missense 12/16 -
16-23641130-G-A PALB2 c.2345C>T p.Pro782Leu Missense 5/13 -
11-108186750-T-C ATM c.6108T>C p.Tyr2036Tyr Synonymous 42/63 -
13-32972356-A-G BRCA2 c.9706A>G p.Lys3236Glu Missense 27/27 -
17-7579885-C-T TP53 c.28G>A p.Val10Ile Missense 2/11 -
11-108119802-C-T ATM c.1208C>T p.Ser403Leu Missense 9/63 -
17-41267762-A-C BRCA1 c.115T>G p.Cys39Gly Missense 3/23 -
11-108129764-A-G ATM c.2428A>G p.Lys810Glu Missense 16/63 -
17-41242960-C-A BRCA1 c.4185+1G>T - IntronicSNV - 11/22
13-32910982-C-A BRCA2 c.2490C>A p.Asn830Lys Missense 11/27 -
13-32910982-C-T BRCA2 c.2490C>T p.Asn830Asn Synonymous 11/27 -
11-108126944-T-C ATM c.2127T>C p.Ile709Ile Synonymous 14/63 -
17-29654606-G-A NF1 c.5295G>A p.Ser1765Ser Synonymous 37/57 -
16-23641130-G-T PALB2 c.2345C>A p.Pro782Gln Missense 5/13 -
13-32929146-T-TT BRCA2 c.7156_7156dup p.Ser2386Phefs*6 Frameshift 14/27 -
17-29676201-C-T NF1 c.7190C>T p.Thr2397Ile Missense 48/57 -
13-32911593-T-G BRCA2 c.3101T>G p.Ile1034Ser Missense 11/27 -
17-41244007-C-G BRCA1 c.3541G>C p.Val1181Leu Missense 10/23 -
17-29661994-A-G NF1 c.5888A>G p.Asn1963Ser Missense 39/57 -
17-29654784-C-T NF1 c.5473C>T p.Arg1825Trp Missense 37/57 -
13-32912785-A-G BRCA2 c.4293A>G p.Ala1431Ala Synonymous 11/27 -
11-108168053-A-G ATM c.4949A>G p.Asn1650Ser Missense 33/63 -
17-41246156-G-C BRCA1 c.1392C>G p.Thr464Thr Synonymous 10/23 -
17-41246156-G-A BRCA1 c.1392C>T p.Thr464Thr Synonymous 10/23 -
17-41234470-A-G BRCA1 c.4308T>C p.Ser1436Ser Synonymous 12/23 -
17-41244643-T-C BRCA1 c.2905A>G p.Asn969Asp Missense 10/23 -
17-29684013-C-A NF1 c.7711C>A p.His2571Asn Missense 52/57 -
13-32971139-G-A BRCA2 c.9606G>A p.Pro3202Pro Synonymous 26/27 -
16-23646654-G-C PALB2 c.1213C>G p.Pro405Ala Missense 4/13 -
16-68845757-C-T CDH1 c.1003C>T p.Arg335* Nonsense 7/16 -
19-1226574-C-T STK11 c.1230C>T p.Ala410Ala Synonymous 9/10 -
11-108203586-ATATTA-A ATM c.7886_7890delTATTA p.Ile2629Serfs*25 Frameshift 53/63 -
11-108155106-A-G ATM c.3899A>G p.Tyr1300Cys Missense 26/63 -
13-32954030-A-AA BRCA2 c.9097_9097dupA p.Thr3033Asnfs*11 Frameshift 23/27 -
13-32931967-G-A BRCA2 c.7706G>A p.Gly2569Asp Missense 16/27 -
19-1220590-C-G STK11 c.608C>G p.Pro203Arg Missense 5/10 -
13-32930636-G-A BRCA2 c.7507G>A p.Val2503Ile Missense 15/27 -
13-32914229-T-G BRCA2 c.5737T>G p.Cys1913Gly Missense 11/27 -
19-1226574-C-G STK11 c.1230C>G p.Ala410Ala Synonymous 9/10 -
17-29490284-C-G NF1 c.369C>G p.Thr123Thr Synonymous 4/57 -
19-1226570-G-A STK11 c.1226G>A p.Arg409Gln Missense 9/10 -
13-32912919-A-G BRCA2 c.4427A>G p.Asp1476Gly Missense 11/27 -
11-108186763-A-G ATM c.6121A>G p.Met2041Val Missense 42/63 -
11-108206649-G-A ATM c.8229G>A p.Thr2743Thr Synonymous 56/63 -
13-32914068-ATTAAA-A BRCA2 c.5576_5580delTTAAA p.Ile1859Lysfs*12 Frameshift 11/27 -
13-32911954-C-T BRCA2 c.3462C>T p.Thr1154Thr Synonymous 11/27 -
17-29665111-G-A NF1 c.6710G>A p.Arg2237Gln Missense 44/57 -
19-1220708-G-T STK11 c.726G>T p.Gly242Gly Synonymous 5/10 -
17-41203094-G-A BRCA1 c.5318C>T p.Thr1773Ile Missense 20/23 -
13-32954009-C-G BRCA2 c.9076C>G p.Gln3026Glu Missense 23/27 -
17-29657457-A-G NF1 c.5690A>G p.Asn1897Ser Missense 38/57 -
17-41209101-G-T BRCA1 c.5245C>A p.Pro1749Thr Missense 19/23 -
16-68867342-C-A CDH1 c.2589C>A p.Asn863Lys Missense 16/16 -
17-41209101-G-C BRCA1 c.5245C>G p.Pro1749Ala Missense 19/23 -
13-32950837-G-C BRCA2 c.8663G>C p.Arg2888Pro Missense 21/27 -
13-32950837-G-A BRCA2 c.8663G>A p.Arg2888His Missense 21/27 -
13-32950837-G-T BRCA2 c.8663G>T p.Arg2888Leu Missense 21/27 -
13-32906558-T-A BRCA2 c.943T>A p.Cys315Ser Missense 10/27 -
19-1219347-G-A STK11 c.399G>A p.Val133Val Synonymous 3/10 -
13-32893253-C-T BRCA2 c.107C>T p.Ser36Phe Missense 3/27 -
13-32931893-C-T BRCA2 c.7632C>T p.Gly2544Gly Synonymous 16/27 -
16-68847240-G-A CDH1 c.1162G>A p.Glu388Lys Missense 9/16 -
17-7578437-G-T TP53 c.493C>A p.Gln165Lys Missense 5/11 -
11-108143537-A-G ATM c.3242A>G p.Asn1081Ser Missense 22/63 -
13-32914175-G-A BRCA2 c.5683G>A p.Glu1895Lys Missense 11/27 -
13-32912733-C-T BRCA2 c.4241C>T p.Thr1414Met Missense 11/27 -
13-32914152-C-G BRCA2 c.5660C>G p.Thr1887Arg Missense 11/27 -
11-108151824-G-A ATM c.3505G>A p.Glu1169Lys Missense 24/63 -
11-108205805-C-G ATM c.8120C>G p.Ser2707Cys Missense 55/63 -
16-68842610-A-G CDH1 c.546A>G p.Lys182Lys Synonymous 5/16 -
11-108168035-T-C ATM c.4931T>C p.Met1644Thr Missense 33/63 -
11-108206685-T-G ATM c.8265T>G p.Tyr2755* Nonsense 56/63 -
16-23646327-C-T PALB2 c.1540G>A p.Gly514Arg Missense 4/13 -
17-41226540-T-G BRCA1 c.4485-2A>C - IntronicSNV - 13/22
17-29654538-G-T NF1 c.5227G>T p.Val1743Leu Missense 37/57 -
17-41244822-T-A BRCA1 c.2726A>T p.Asn909Ile Missense 10/23 -
13-32913692-G-C BRCA2 c.5200G>C p.Glu1734Gln Missense 11/27 -
13-32913692-G-A BRCA2 c.5200G>A p.Glu1734Lys Missense 11/27 -
17-41219701-G-T BRCA1 c.4998C>A p.Tyr1666* Nonsense 16/23 -
17-29541475-A-T NF1 c.1399A>T p.Thr467Ser Missense 13/57 -
17-41226379-C-T BRCA1 c.4644G>A p.Thr1548Thr Synonymous 14/23 -
17-41258497-A-G BRCA1 c.188T>C p.Leu63Ser Missense 4/23 -
17-41258497-A-T BRCA1 c.188T>A p.Leu63* Nonsense 4/23 -
17-41219631-T-G BRCA1 c.5068A>C p.Lys1690Gln Missense 16/23 -
16-23641778-C-G PALB2 c.1697G>C p.Arg566Pro Missense 5/13 -
17-29654538-G-A NF1 c.5227G>A p.Val1743Ile Missense 37/57 -
17-41246791-C-T BRCA1 c.757G>A p.Ala253Thr Missense 10/23 -
17-41228567-A-G BRCA1 c.4422T>C p.Ala1474Ala Synonymous 13/23 -
17-29556080-G-C NF1 c.2447G>C p.Arg816Pro Missense 21/57 -
17-29556080-G-A NF1 c.2447G>A p.Arg816Gln Missense 21/57 -
13-32944567-G-A BRCA2 c.8360G>A p.Arg2787His Missense 19/27 -
13-32913692-G-T BRCA2 c.5200G>T p.Glu1734* Nonsense 11/27 -
17-41243800-C-T BRCA1 c.3748G>A p.Glu1250Lys Missense 10/23 -
17-41243800-C-A BRCA1 c.3748G>T p.Glu1250* Nonsense 10/23 -
13-32913070-A-C BRCA2 c.4578A>C p.Thr1526Thr Synonymous 11/27 -
16-23649399-G-A PALB2 c.100C>T p.Arg34Cys Missense 2/13 -
17-41256153-C-T BRCA1 c.427G>A p.Glu143Lys Missense 6/23 -
16-23647372-G-A PALB2 c.495C>T p.Gly165Gly Synonymous 4/13 -
11-108203619-C-G ATM c.7919C>G p.Thr2640Ser Missense 53/63 -
11-108175529-G-C ATM c.5624G>C p.Arg1875Pro Missense 37/63 -
13-32914593-G-A BRCA2 c.6101G>A p.Arg2034His Missense 11/27 -
17-29557278-G-T NF1 c.2991G>T p.Arg997Ser Missense 23/57 -
13-32914897-ACTTAA-A BRCA2 c.6405_6409delCTTAA p.Asn2135Lysfs*3 Frameshift 11/27 -
17-29508476-C-T NF1 c.623C>T p.Ala208Val Missense 6/57 -
17-7574012-C-T TP53 c.1015G>A p.Glu339Lys Missense 10/11 -
11-108180917-T-C ATM c.5793T>C p.Ala1931Ala Synonymous 39/63 -
17-29653162-G-C NF1 c.5097G>C p.Glu1699Asp Missense 36/57 -
11-108115564-A-G ATM c.712A>G p.Ile238Val Missense 7/63 -
11-108123629-G-C ATM c.1888G>C p.Val630Leu Missense 12/63 -
19-1220590-C-T STK11 c.608C>T p.Pro203Leu Missense 5/10 -
17-41244617-T-G BRCA1 c.2931A>C p.Pro977Pro Synonymous 10/23 -
17-29585518-A-G NF1 c.4267A>G p.Lys1423Glu Missense 31/57 -
17-29585518-A-C NF1 c.4267A>C p.Lys1423Gln Missense 31/57 -
13-32914461-A-G BRCA2 c.5969A>G p.Asp1990Gly Missense 11/27 -
17-41256251-T-G BRCA1 c.329A>C p.Lys110Thr Missense 6/23 -
17-29496991-G-A NF1 c.562G>A p.Ala188Thr Missense 5/57 -
11-108175529-G-A ATM c.5624G>A p.Arg1875Gln Missense 37/63 -
17-7574012-C-G TP53 c.1015G>C p.Glu339Gln Missense 10/11 -
17-7574012-C-A TP53 c.1015G>T p.Glu339* Nonsense 10/11 -
17-29550541-C-T NF1 c.1801C>T p.Arg601Trp Missense 16/57 -
17-41246081-C-T BRCA1 c.1467G>A p.Glu489Glu Synonymous 10/23 -
11-108151833-G-T ATM c.3514G>T p.Ala1172Ser Missense 24/63 -
11-108124682-C-T ATM c.2040C>T p.Phe680Phe Synonymous 13/63 -
13-32954246-C-T BRCA2 c.9220C>T p.Leu3074Leu Synonymous 24/27 -
13-32912610-T-C BRCA2 c.4118T>C p.Met1373Thr Missense 11/27 -
13-32910842-A-G BRCA2 c.2350A>G p.Met784Val Missense 11/27 -
13-32911319-A-G BRCA2 c.2827A>G p.Ile943Val Missense 11/27 -
16-23646375-C-T PALB2 c.1492G>A p.Asp498Asn Missense 4/13 -
17-41244265-T-C BRCA1 c.3283A>G p.Lys1095Glu Missense 10/23 -
17-29559872-G-A NF1 c.3469G>A p.Val1157Ile Missense 26/57 -
17-29670074-C-T NF1 c.7047C>T p.His2349His Synonymous 47/57 -
16-23646329-G-T PALB2 c.1538C>A p.Thr513Lys Missense 4/13 -
16-23646329-G-A PALB2 c.1538C>T p.Thr513Ile Missense 4/13 -
11-108158382-C-T ATM c.4049C>T p.Thr1350Met Missense 27/63 -
17-29576098-C-T NF1 c.4071C>T p.Phe1357Phe Synonymous 30/57 -
11-108121656-G-A ATM c.1464G>A p.Trp488* Nonsense 10/63 -
11-108121656-G-T ATM c.1464G>T p.Trp488Cys Missense 10/63 -
16-23614916-TAAGT-T PALB2 c.3426_3429delACTT p.Leu1142Phefs*20 Frameshift 13/13 -
13-32900251-C-T BRCA2 c.439C>T p.Gln147* Nonsense 5/27 -
13-32914464-C-T BRCA2 c.5972C>T p.Ala1991Val Missense 11/27 -
17-7578183-C-T TP53 c.666G>A p.Pro222Pro Synonymous 6/11 -
17-7578183-C-A TP53 c.666G>T p.Pro222Pro Synonymous 6/11 -
16-23646375-C-A PALB2 c.1492G>T p.Asp498Tyr Missense 4/13 -
17-29557287-T-C NF1 c.3000T>C p.Arg1000Arg Synonymous 23/57 -
13-32913026-C-T BRCA2 c.4534C>T p.Arg1512Cys Missense 11/27 -
13-32913026-C-A BRCA2 c.4534C>A p.Arg1512Ser Missense 11/27 -
13-32903579-G-T BRCA2 c.632-1G>T - IntronicSNV - 7/26
13-32912299-T-G BRCA2 c.3807T>G p.Val1269Val Synonymous 11/27 -
13-32912299-T-C BRCA2 c.3807T>C p.Val1269Val Synonymous 11/27 -
17-41244435-T-G BRCA1 c.3113A>C p.Glu1038Ala Missense 10/23 -
11-108137926-G-T ATM c.2495G>T p.Arg832Leu Missense 17/63 -
11-108201135-A-G ATM c.7502A>G p.Asn2501Ser Missense 50/63 -
11-108175462-G-A ATM c.5557G>A p.Asp1853Asn Missense 37/63 -
16-68867396-C-T CDH1 c.2643C>T p.Asp881Asp Synonymous 16/16 -
22-29121265-C-T CHEK2 c.539G>A p.Arg180Gln Missense 4/16 -
10-89624304-C-T PTEN c.78C>T p.Thr26Thr Synonymous 1/9 -
16-23640966-C-A PALB2 c.2509G>T p.Glu837* Nonsense 5/13 -
17-41243696-G-T BRCA1 c.3852C>A p.His1284Gln Missense 10/23 -
16-23640966-C-T PALB2 c.2509G>A p.Glu837Lys Missense 5/13 -
16-68847375-G-A CDH1 c.1297G>A p.Asp433Asn Missense 9/16 -
11-108121767-G-A ATM c.1575G>A p.Lys525Lys Synonymous 10/63 -
19-1226620-C-A STK11 c.1276C>A p.Arg426Arg Synonymous 9/10 -
10-89624304-C-A PTEN c.78C>A p.Thr26Thr Synonymous 1/9 -
19-1226620-C-T STK11 c.1276C>T p.Arg426Trp Missense 9/10 -
19-1226620-C-G STK11 c.1276C>G p.Arg426Gly Missense 9/10 -
17-7579705-C-A TP53 c.91G>T p.Val31Phe Missense 3/11 -
11-108150302-A-G ATM c.3369A>G p.Ala1123Ala Synonymous 23/63 -
13-32907165-A-G BRCA2 c.1550A>G p.Asn517Ser Missense 10/27 -
13-32929056-T-G BRCA2 c.7066T>G p.Phe2356Val Missense 14/27 -
16-68862165-C-G CDH1 c.2253C>G p.Asn751Lys Missense 14/16 -
17-29701168-G-C NF1 c.8452G>C p.Val2818Leu Missense 57/57 -
11-108216478-A-G ATM c.8427A>G p.Gln2809Gln Synonymous 58/63 -
17-41256210-T-C BRCA1 c.370A>G p.Ile124Val Missense 6/23 -
17-41256210-T-G BRCA1 c.370A>C p.Ile124Leu Missense 6/23 -
17-41246792-A-G BRCA1 c.756T>C p.Arg252Arg Synonymous 10/23 -
11-108126975-C-A ATM c.2158C>A p.Arg720Ser Missense 14/63 -
13-32914623-G-T BRCA2 c.6131G>T p.Gly2044Val Missense 11/27 -
17-41223094-T-C BRCA1 c.4837A>G p.Ser1613Gly Missense 15/23 -
11-108170490-C-T ATM c.5055C>T p.Thr1685Thr Synonymous 34/63 -
17-41245390-C-T BRCA1 c.2158G>A p.Glu720Lys Missense 10/23 -
17-41219707-G-A BRCA1 c.4992C>T p.Leu1664Leu Synonymous 16/23 -
17-7578244-C-A TP53 c.605G>T p.Arg202Leu Missense 6/11 -
13-32912671-G-A BRCA2 c.4179G>A p.Ala1393Ala Synonymous 11/27 -
13-32954041-A-G BRCA2 c.9108A>G p.Gln3036Gln Synonymous 23/27 -
13-32914623-G-A BRCA2 c.6131G>A p.Gly2044Asp Missense 11/27 -
16-23641388-G-A PALB2 c.2087C>T p.Thr696Met Missense 5/13 -
13-32914591-A-G BRCA2 c.6099A>G p.Ile2033Met Missense 11/27 -
19-1221294-G-A STK11 c.817G>A p.Ala273Thr Missense 6/10 -
17-41244113-A-G BRCA1 c.3435T>C p.Val1145Val Synonymous 10/23 -
13-32972526-G-T BRCA2 c.9876G>T p.Pro3292Pro Synonymous 27/27 -
13-32972526-G-A BRCA2 c.9876G>A p.Pro3292Pro Synonymous 27/27 -
13-32913691-C-T BRCA2 c.5199C>T p.Ser1733Ser Synonymous 11/27 -
17-41226411-G-A BRCA1 c.4612C>T p.Gln1538* Nonsense 14/23 -
11-108168108-A-G ATM c.5004A>G p.Leu1668Leu Synonymous 33/63 -
17-41203085-G-A BRCA1 c.5327C>T p.Pro1776Leu Missense 20/23 -
13-32911712-A-T BRCA2 c.3220A>T p.Ser1074Cys Missense 11/27 -
11-108099970-C-T ATM c.251C>T p.Ala84Val Missense 4/63 -
17-7576543-C-A TP53 c.993+310G>T - IntronicSNV - 9/10
17-7576543-C-T TP53 c.993+310G>A - IntronicSNV - 9/10
13-32914623-G-C BRCA2 c.6131G>C p.Gly2044Ala Missense 11/27 -
17-7578283-G-A TP53 c.566C>T p.Ala189Val Missense 6/11 -
16-23640966-C-G PALB2 c.2509G>C p.Glu837Gln Missense 5/13 -
17-29552151-C-A NF1 c.1884C>A p.Tyr628* Nonsense 17/57 -
11-108121675-A-G ATM c.1483A>G p.Ile495Val Missense 10/63 -
11-108224583-C-T ATM c.8762C>T p.Thr2921Met Missense 60/63 -
17-41244465-C-T BRCA1 c.3083G>A p.Arg1028His Missense 10/23 -
13-32913023-G-A BRCA2 c.4531G>A p.Glu1511Lys Missense 11/27 -
10-89717698-T-G PTEN c.723T>G p.Phe241Leu Missense 7/9 -
11-108198411-A-C ATM c.7015A>C p.Arg2339Arg Synonymous 48/63 -
17-29667607-G-C NF1 c.6943G>C p.Ala2315Pro Missense 46/57 -
17-29667607-G-T NF1 c.6943G>T p.Ala2315Ser Missense 46/57 -
17-29667607-G-A NF1 c.6943G>A p.Ala2315Thr Missense 46/57 -
17-41244982-A-G BRCA1 c.2566T>C p.Tyr856His Missense 10/23 -
13-32945130-G-T BRCA2 c.8525G>T p.Arg2842Leu Missense 20/27 -
13-32914152-C-T BRCA2 c.5660C>T p.Thr1887Met Missense 11/27 -
16-68772305-C-T CDH1 c.154C>T p.Leu52Leu Synonymous 2/16 -
17-7574017-C-G TP53 c.1010G>C p.Arg337Pro Missense 10/11 -
16-68853227-C-T CDH1 c.1610C>T p.Pro537Leu Missense 11/16 -
17-29683555-A-G NF1 c.7630A>G p.Thr2544Ala Missense 51/57 -
17-29683555-A-C NF1 c.7630A>C p.Thr2544Pro Missense 51/57 -
13-32914640-G-T BRCA2 c.6148G>T p.Val2050Leu Missense 11/27 -
11-108183149-T-C ATM c.5930T>C p.Phe1977Ser Missense 40/63 -
19-1207086-C-G STK11 c.174C>G p.Gly58Gly Synonymous 1/10 -
11-108142134-G-T ATM c.3077+1G>T - IntronicSNV - 20/62
16-23641246-A-G PALB2 c.2229T>C p.Tyr743Tyr Synonymous 5/13 -
13-32929388-A-T BRCA2 c.7398A>T p.Val2466Val Synonymous 14/27 -
16-23641594-C-A PALB2 c.1881G>T p.Val627Val Synonymous 5/13 -
16-23641594-C-T PALB2 c.1881G>A p.Val627Val Synonymous 5/13 -
17-29701060-C-A NF1 c.8344C>A p.Pro2782Thr Missense 57/57 -
11-108098564-G-A ATM c.134G>A p.Arg45Gln Missense 3/63 -
13-32914817-G-A BRCA2 c.6325G>A p.Val2109Ile Missense 11/27 -
17-41244569-T-C BRCA1 c.2979A>G p.Lys993Lys Synonymous 10/23 -
17-41223094-T-A BRCA1 c.4837A>T p.Ser1613Cys Missense 15/23 -
11-108121544-G-A ATM c.1352G>A p.Arg451His Missense 10/63 -
22-29091225-C-T CHEK2 c.1394G>A p.Ser465Asn Missense 13/16 -
22-29083913-C-T CHEK2 c.1733G>A p.Arg578His Missense 16/16 -
11-108164144-G-C ATM c.4716G>C p.Lys1572Asn Missense 31/63 -
11-108142134-G-A ATM c.3077+1G>A - IntronicSNV - 20/62
17-41222996-C-G BRCA1 c.4935G>C p.Arg1645Ser Missense 15/23 -
19-1223170-C-T STK11 c.1107C>T p.Pro369Pro Synonymous 8/10 -
13-32929388-A-G BRCA2 c.7398A>G p.Val2466Val Synonymous 14/27 -
17-7573948-C-T TP53 c.1079G>A p.Gly360Glu Missense 10/11 -
16-23641058-G-A PALB2 c.2417C>T p.Pro806Leu Missense 5/13 -
16-68863655-T-C CDH1 c.2394T>C p.Leu798Leu Synonymous 15/16 -
13-32954242-G-A BRCA2 c.9216G>A p.Val3072Val Synonymous 24/27 -
13-32900742-T-G BRCA2 c.623T>G p.Val208Gly Missense 7/27 -
11-108170490-C-G ATM c.5055C>G p.Thr1685Thr Synonymous 34/63 -
17-29654756-C-T NF1 c.5445C>T p.Pro1815Pro Synonymous 37/57 -
13-32906890-A-G BRCA2 c.1275A>G p.Glu425Glu Synonymous 10/27 -
13-32912008-G-A BRCA2 c.3516G>A p.Ser1172Ser Synonymous 11/27 -
13-32907165-A-T BRCA2 c.1550A>T p.Asn517Ile Missense 10/27 -
16-68846136-C-T CDH1 c.1107C>T p.Asn369Asn Synonymous 8/16 -
13-32913674-G-A BRCA2 c.5182G>A p.Asp1728Asn Missense 11/27 -
16-23635380-C-T PALB2 c.2784G>A p.Val928Val Synonymous 8/13 -
11-108121767-G-T ATM c.1575G>T p.Lys525Asn Missense 10/63 -
17-29664851-T-G NF1 c.6594T>G p.Asp2198Glu Missense 43/57 -
19-1220702-G-T STK11 c.720G>T p.Ser240Ser Synonymous 5/10 -
19-1220702-G-A STK11 c.720G>A p.Ser240Ser Synonymous 5/10 -
17-41244797-TG-T BRCA1 c.2751delC p.Lys918Serfs*82 Frameshift 10/23 -
16-23646191-T-C PALB2 c.1676A>G p.Gln559Arg Missense 4/13 -
13-32954050-G-C BRCA2 c.9117G>C p.Pro3039Pro Synonymous 23/27 -
13-32954050-G-A BRCA2 c.9117G>A p.Pro3039Pro Synonymous 23/27 -
11-108178644-T-A ATM c.5695T>A p.Cys1899Ser Missense 38/63 -
13-32972525-C-T BRCA2 c.9875C>T p.Pro3292Leu Missense 27/27 -
19-1226535-G-T STK11 c.1191G>T p.Ala397Ala Synonymous 9/10 -
19-1226535-G-C STK11 c.1191G>C p.Ala397Ala Synonymous 9/10 -
17-41197760-C-G BRCA1 c.5527G>C p.Ala1843Pro Missense 23/23 -
13-32914021-A-T BRCA2 c.5529A>T p.Ala1843Ala Synonymous 11/27 -
13-32914021-A-C BRCA2 c.5529A>C p.Ala1843Ala Synonymous 11/27 -
13-32930633-C-A BRCA2 c.7504C>A p.Arg2502Ser Missense 15/27 -
13-32915230-A-G BRCA2 c.6738A>G p.Pro2246Pro Synonymous 11/27 -
11-108178641-C-T ATM c.5692C>T p.Arg1898* Nonsense 38/63 -
16-68835594-G-A CDH1 c.185G>A p.Gly62Asp Missense 3/16 -
13-32900264-T-C BRCA2 c.452T>C p.Val151Ala Missense 5/27 -
16-23646191-T-A PALB2 c.1676A>T p.Gln559Leu Missense 4/13 -
13-32954050-G-T BRCA2 c.9117G>T p.Pro3039Pro Synonymous 23/27 -
17-29559844-T-C NF1 c.3441T>C p.Leu1147Leu Synonymous 26/57 -
19-1226535-G-A STK11 c.1191G>A p.Ala397Ala Synonymous 9/10 -
13-32929297-A-T BRCA2 c.7307A>T p.Asn2436Ile Missense 14/27 -
13-32914229-T-C BRCA2 c.5737T>C p.Cys1913Arg Missense 11/27 -
16-68862117-G-C CDH1 c.2205G>C p.Ala735Ala Synonymous 14/16 -
13-32893412-C-T BRCA2 c.266C>T p.Pro89Leu Missense 3/27 -
13-32893412-C-A BRCA2 c.266C>A p.Pro89Gln Missense 3/27 -
17-7579546-C-A TP53 c.141G>T p.Pro47Pro Synonymous 4/11 -
17-29560209-A-G NF1 c.3686A>G p.Asn1229Ser Missense 27/57 -
17-41243849-T-C BRCA1 c.3699A>G p.Lys1233Lys Synonymous 10/23 -
16-68867265-A-G CDH1 c.2512A>G p.Ser838Gly Missense 16/16 -
17-7579546-C-T TP53 c.141G>A p.Pro47Pro Synonymous 4/11 -
17-29701047-C-T NF1 c.8331C>T p.Asn2777Asn Synonymous 57/57 -
13-32913407-G-C BRCA2 c.4915G>C p.Val1639Leu Missense 11/27 -
13-32913407-G-A BRCA2 c.4915G>A p.Val1639Ile Missense 11/27 -
17-41246597-T-C BRCA1 c.951A>G p.Gln317Gln Synonymous 10/23 -
13-32914782-C-T BRCA2 c.6290C>T p.Thr2097Met Missense 11/27 -
17-29556173-T-G NF1 c.2540T>G p.Leu847Arg Missense 21/57 -
17-29556173-T-C NF1 c.2540T>C p.Leu847Pro Missense 21/57 -
17-7578262-C-T TP53 c.587G>A p.Arg196Gln Missense 6/11 -
19-1226569-C-G STK11 c.1225C>G p.Arg409Gly Missense 9/10 -
17-7577139-G-A TP53 c.799C>T p.Arg267Trp Missense 8/11 -
19-1226569-C-T STK11 c.1225C>T p.Arg409Trp Missense 9/10 -
13-32930634-G-A BRCA2 c.7505G>A p.Arg2502His Missense 15/27 -
13-32915263-C-T BRCA2 c.6771C>T p.Pro2257Pro Synonymous 11/27 -
17-41215948-G-T BRCA1 c.5095C>A p.Arg1699Arg Synonymous 17/23 -
16-23647146-T-C PALB2 c.721A>G p.Asn241Asp Missense 4/13 -
16-23647146-T-G PALB2 c.721A>C p.Asn241His Missense 4/13 -
17-41246181-A-G BRCA1 c.1367T>C p.Ile456Thr Missense 10/23 -
11-108126966-C-T ATM c.2149C>T p.Arg717Trp Missense 14/63 -
16-23646935-T-C PALB2 c.932A>G p.Lys311Arg Missense 4/13 -
16-23646935-T-G PALB2 c.932A>C p.Lys311Thr Missense 4/13 -
19-1220612-C-A STK11 c.630C>A p.Cys210* Nonsense 5/10 -
17-7578463-C-T TP53 c.467G>A p.Arg156His Missense 5/11 -
13-32954181-G-T BRCA2 c.9155G>T p.Arg3052Leu Missense 24/27 -
13-32953632-C-G BRCA2 c.8933C>G p.Ser2978* Nonsense 22/27 -
13-32972356-A-T BRCA2 c.9706A>T p.Lys3236* Nonsense 27/27 -
11-108150232-C-G ATM c.3299C>G p.Thr1100Arg Missense 23/63 -
11-108150232-C-T ATM c.3299C>T p.Thr1100Met Missense 23/63 -
16-68835786-C-T CDH1 c.377C>T p.Pro126Leu Missense 3/16 -
16-68835786-C-A CDH1 c.377C>A p.Pro126Gln Missense 3/16 -
16-68835786-C-G CDH1 c.377C>G p.Pro126Arg Missense 3/16 -
19-1223035-G-A STK11 c.972G>A p.Pro324Pro Synonymous 8/10 -
17-7578414-A-G TP53 c.516T>C p.Val172Val Synonymous 5/11 -
13-32914328-T-C BRCA2 c.5836T>C p.Ser1946Pro Missense 11/27 -
19-1220612-C-T STK11 c.630C>T p.Cys210Cys Synonymous 5/10 -
16-68845757-C-G CDH1 c.1003C>G p.Arg335Gly Missense 7/16 -
17-7578463-C-G TP53 c.467G>C p.Arg156Pro Missense 5/11 -
13-32954181-G-A BRCA2 c.9155G>A p.Arg3052Gln Missense 24/27 -
13-32953632-C-A BRCA2 c.8933C>A p.Ser2978* Nonsense 22/27 -
13-32929040-C-T BRCA2 c.7050C>T p.Thr2350Thr Synonymous 14/27 -
17-41215948-G-A BRCA1 c.5095C>T p.Arg1699Trp Missense 17/23 -
11-108137925-C-A ATM c.2494C>A p.Arg832Ser Missense 17/63 -
11-108137925-C-T ATM c.2494C>T p.Arg832Cys Missense 17/63 -
17-41246191-C-G BRCA1 c.1357G>C p.Glu453Gln Missense 10/23 -
16-23646834-A-G PALB2 c.1033T>C p.Leu345Leu Synonymous 4/13 -
13-32915129-T-C BRCA2 c.6637T>C p.Ser2213Pro Missense 11/27 -
13-32893236-T-C BRCA2 c.90T>C p.Asn30Asn Synonymous 3/27 -
16-68849520-G-A CDH1 c.1423G>A p.Val475Met Missense 10/16 -
11-108126975-C-T ATM c.2158C>T p.Arg720Cys Missense 14/63 -
10-89692904-C-G PTEN c.388C>G p.Arg130Gly Missense 5/9 -
16-23641198-T-C PALB2 c.2277A>G p.Gln759Gln Synonymous 5/13 -
11-108151833-G-C ATM c.3514G>C p.Ala1172Pro Missense 24/63 -
16-23646882-G-C PALB2 c.985C>G p.Leu329Val Missense 4/13 -
13-32914206-A-G BRCA2 c.5714A>G p.His1905Arg Missense 11/27 -
17-41246737-C-T BRCA1 c.811G>A p.Val271Met Missense 10/23 -
16-68847249-G-A CDH1 c.1171G>A p.Val391Ile Missense 9/16 -
16-68847249-G-T CDH1 c.1171G>T p.Val391Phe Missense 9/16 -
11-108138009-G-C ATM c.2578G>C p.Asp860His Missense 17/63 -
11-108138009-G-A ATM c.2578G>A p.Asp860Asn Missense 17/63 -
16-68862165-C-T CDH1 c.2253C>T p.Asn751Asn Synonymous 14/16 -
17-29552242-C-T NF1 c.1975C>T p.Arg659Trp Missense 17/57 -
17-41209095-G-C BRCA1 c.5251C>G p.Arg1751Gly Missense 19/23 -
13-32914174-C-G BRCA2 c.5682C>G p.Tyr1894* Nonsense 11/27 -
17-29559871-C-A NF1 c.3468C>A p.Asn1156Lys Missense 26/57 -
16-23640970-G-A PALB2 c.2505C>T p.Ser835Ser Synonymous 5/13 -
19-1220597-G-A STK11 c.615G>A p.Ala205Ala Synonymous 5/10 -
13-32906729-A-C BRCA2 c.1114A>C p.Asn372His Missense 10/27 -
17-41246737-C-G BRCA1 c.811G>C p.Val271Leu Missense 10/23 -
13-32914485-A-G BRCA2 c.5993A>G p.Gln1998Arg Missense 11/27 -
13-32914485-A-C BRCA2 c.5993A>C p.Gln1998Pro Missense 11/27 -
16-23649398-C-T PALB2 c.101G>A p.Arg34His Missense 2/13 -
13-32914174-C-T BRCA2 c.5682C>T p.Tyr1894Tyr Synonymous 11/27 -
17-29559871-C-T NF1 c.3468C>T p.Asn1156Asn Synonymous 26/57 -
16-23640970-G-T PALB2 c.2505C>A p.Ser835Ser Synonymous 5/13 -
13-32906480-A-C BRCA2 c.865A>C p.Asn289His Missense 10/27 -
17-29657472-C-G NF1 c.5705C>G p.Thr1902Arg Missense 38/57 -
22-29090054-G-C CHEK2 c.1556C>G p.Thr519Arg Missense 14/16 -
11-108170498-T-C ATM c.5063T>C p.Ile1688Thr Missense 34/63 -
22-29083956-G-A CHEK2 c.1690C>T p.Arg564Trp Missense 16/16 -
17-29576036-C-T NF1 c.4009C>T p.Arg1337Trp Missense 30/57 -
13-32906480-A-G BRCA2 c.865A>G p.Asn289Asp Missense 10/27 -
17-41244465-C-A BRCA1 c.3083G>T p.Arg1028Leu Missense 10/23 -
11-108206576-G-A ATM c.8156G>A p.Arg2719His Missense 56/63 -
13-32930650-A-G BRCA2 c.7521A>G p.Pro2507Pro Synonymous 15/27 -
17-7577120-C-A TP53 c.818G>T p.Arg273Leu Missense 8/11 -
17-41242961-C-G BRCA1 c.4185G>C p.Gln1395His Missense 11/23 -
17-41242961-C-T BRCA1 c.4185G>A p.Gln1395Gln Synonymous 11/23 -
17-7579438-C-T TP53 c.249G>A p.Ala83Ala Synonymous 4/11 -
11-108216581-A-C ATM c.8530A>C p.Ile2844Leu Missense 58/63 -
17-7577120-C-G TP53 c.818G>C p.Arg273Pro Missense 8/11 -
16-23647023-T-C PALB2 c.844A>G p.Arg282Gly Missense 4/13 -
11-108143552-G-T ATM c.3257G>T p.Arg1086Leu Missense 22/63 -
11-108098555-A-G ATM c.125A>G p.His42Arg Missense 3/63 -
11-108123554-C-G ATM c.1813C>G p.His605Asp Missense 12/63 -
19-1219380-G-T STK11 c.432G>T p.Pro144Pro Synonymous 3/10 -
17-41267763-C-T BRCA1 c.114G>A p.Lys38Lys Synonymous 3/23 -
22-29095854-T-A CHEK2 c.1109A>T p.Tyr370Phe Missense 10/16 -
22-29095854-T-C CHEK2 c.1109A>G p.Tyr370Cys Missense 10/16 -
17-29684078-G-A NF1 c.7776G>A p.Pro2592Pro Synonymous 52/57 -
17-29684078-G-C NF1 c.7776G>C p.Pro2592Pro Synonymous 52/57 -
19-1226621-G-A STK11 c.1277G>A p.Arg426Gln Missense 9/10 -
19-1226621-G-T STK11 c.1277G>T p.Arg426Leu Missense 9/10 -
11-108164131-A-G ATM c.4703A>G p.His1568Arg Missense 31/63 -
11-108129732-C-T ATM c.2396C>T p.Ala799Val Missense 16/63 -
13-32910721-T-C BRCA2 c.2229T>C p.His743His Synonymous 11/27 -
11-108143552-G-A ATM c.3257G>A p.Arg1086His Missense 22/63 -
19-1223136-A-G STK11 c.1073A>G p.Asp358Gly Missense 8/10 -
19-1207086-C-T STK11 c.174C>T p.Gly58Gly Synonymous 1/10 -
19-1226621-G-C STK11 c.1277G>C p.Arg426Pro Missense 9/10 -
17-41222967-G-A BRCA1 c.4964C>T p.Ser1655Phe Missense 15/23 -
19-1226569-C-A STK11 c.1225C>A p.Arg409Arg Synonymous 9/10 -
17-7577548-C-A TP53 c.733G>T p.Gly245Cys Missense 7/11 -
19-1220466-G-C STK11 c.559G>C p.Gly187Arg Missense 4/10 -
16-23647552-C-T PALB2 c.315G>A p.Glu105Glu Synonymous 4/13 -
13-32930651-G-A BRCA2 c.7522G>A p.Gly2508Ser Missense 15/27 -
16-68863619-C-T CDH1 c.2358C>T p.Asp786Asp Synonymous 15/16 -
11-108114842-C-T ATM c.659C>T p.Ala220Val Missense 6/63 -
16-23647552-C-G PALB2 c.315G>C p.Glu105Asp Missense 4/13 -
11-108173695-C-T ATM c.5435C>T p.Ala1812Val Missense 36/63 -
17-41245759-C-A BRCA1 c.1789G>T p.Glu597* Nonsense 10/23 -
17-41245759-C-T BRCA1 c.1789G>A p.Glu597Lys Missense 10/23 -
13-32914285-A-G BRCA2 c.5793A>G p.Gln1931Gln Synonymous 11/27 -
17-7577555-G-C TP53 c.726C>G p.Cys242Trp Missense 7/11 -
16-68835642-G-A CDH1 c.233G>A p.Gly78Asp Missense 3/16 -
11-108206685-T-C ATM c.8265T>C p.Tyr2755Tyr Synonymous 56/63 -
13-32911297-ATAAA-A BRCA2 c.2805_2808delTAAA p.Ala938Profs*21 Frameshift 11/27 -
17-7577555-G-A TP53 c.726C>T p.Cys242Cys Synonymous 7/11 -
13-32914894-T-TT BRCA2 c.6402dupT p.Asn2135*fs*1 Nonsense 11/27 -
16-23649273-G-A PALB2 c.109C>T p.Arg37Cys Missense 3/13 -
16-23632742-C-T PALB2 c.3054G>A p.Glu1018Glu Synonymous 10/13 -
16-23649273-G-T PALB2 c.109C>A p.Arg37Ser Missense 3/13 -
11-108198458-G-A ATM c.7062G>A p.Ala2354Ala Synonymous 48/63 -
11-108198458-G-C ATM c.7062G>C p.Ala2354Ala Synonymous 48/63 -
13-32937586-G-A BRCA2 c.8247G>A p.Gln2749Gln Synonymous 18/27 -
10-89653834-C-A PTEN c.132C>A p.Gly44Gly Synonymous 2/9 -
17-41246855-C-T BRCA1 c.693G>A p.Thr231Thr Synonymous 10/23 -
16-23646911-G-A PALB2 c.956C>T p.Ser319Phe Missense 4/13 -
13-32912610-T-G BRCA2 c.4118T>G p.Met1373Arg Missense 11/27 -
13-32971139-G-C BRCA2 c.9606G>C p.Pro3202Pro Synonymous 26/27 -
13-32913987-C-A BRCA2 c.5495C>A p.Ser1832Tyr Missense 11/27 -
13-32913987-C-G BRCA2 c.5495C>G p.Ser1832Cys Missense 11/27 -
17-29556385-A-T NF1 c.2752A>T p.Lys918* Nonsense 21/57 -
17-29667606-C-T NF1 c.6942C>T p.Thr2314Thr Synonymous 46/57 -
10-89653834-C-T PTEN c.132C>T p.Gly44Gly Synonymous 2/9 -
17-41246855-C-A BRCA1 c.693G>T p.Thr231Thr Synonymous 10/23 -
16-68835779-C-T CDH1 c.370C>T p.Arg124Cys Missense 3/16 -
13-32906876-C-G BRCA2 c.1261C>G p.Gln421Glu Missense 10/27 -
13-32906876-C-T BRCA2 c.1261C>T p.Gln421* Nonsense 10/27 -
17-29556374-G-A NF1 c.2741G>A p.Arg914Gln Missense 21/57 -
17-29663377-A-C NF1 c.5970A>C p.Leu1990Leu Synonymous 40/57 -
17-29663377-A-G NF1 c.5970A>G p.Leu1990Leu Synonymous 40/57 -
17-29667606-C-G NF1 c.6942C>G p.Thr2314Thr Synonymous 46/57 -
17-29553484-C-T NF1 c.2033C>T p.Pro678Leu Missense 18/57 -
13-32911300-AACAA-A BRCA2 c.2808_2811delACAA p.Ala938Profs*21 Frameshift 11/27 -
17-29684292-A-G NF1 c.7812A>G p.Thr2604Thr Synonymous 53/57 -
13-32893291-G-T BRCA2 c.145G>T p.Glu49* Nonsense 3/27 -
11-108192040-G-A ATM c.6465G>A p.Val2155Val Synonymous 45/63 -
13-32893291-G-C BRCA2 c.145G>C p.Glu49Gln Missense 3/27 -
16-23619299-G-A PALB2 c.3236C>T p.Ala1079Val Missense 12/13 -
16-68835594-G-T CDH1 c.185G>T p.Gly62Val Missense 3/16 -
17-41247917-G-A BRCA1 c.616C>T p.Gln206* Nonsense 9/23 -
17-41223119-T-C BRCA1 c.4812A>G p.Gln1604Gln Synonymous 15/23 -
16-23637664-C-T PALB2 c.2641G>A p.Gly881Ser Missense 7/13 -
13-32911712-A-G BRCA2 c.3220A>G p.Ser1074Gly Missense 11/27 -
17-29585450-C-G NF1 c.4199C>G p.Pro1400Arg Missense 31/57 -
17-29585450-C-A NF1 c.4199C>A p.Pro1400Gln Missense 31/57 -
17-29585450-C-T NF1 c.4199C>T p.Pro1400Leu Missense 31/57 -
11-108138041-C-G ATM c.2610C>G p.Asn870Lys Missense 17/63 -
16-68846092-T-C CDH1 c.1063T>C p.Leu355Leu Synonymous 8/16 -
11-108138041-C-T ATM c.2610C>T p.Asn870Asn Synonymous 17/63 -
17-41234440-TTCT-TTCTTTCT BRCA1 c.4335_4338dup p.Gln1447Argfs*16 Frameshift 12/23 -
13-32911295-G-A BRCA2 c.2803G>A p.Asp935Asn Missense 11/27 -
22-29090054-G-T CHEK2 c.1556C>A p.Thr519Lys Missense 14/16 -
16-68845620-C-T CDH1 c.866C>T p.Ala289Val Missense 7/16 -
10-89690827-C-A PTEN c.234C>A p.Thr78Thr Synonymous 4/9 -
17-41245683-G-A BRCA1 c.1865C>T p.Ala622Val Missense 10/23 -
17-41245683-G-C BRCA1 c.1865C>G p.Ala622Gly Missense 10/23 -
22-29092952-T-C CHEK2 c.1161A>G p.Ile387Met Missense 11/16 -
22-29083956-G-T CHEK2 c.1690C>A p.Arg564Arg Synonymous 16/16 -
13-32910678-T-C BRCA2 c.2186T>C p.Ile729Thr Missense 11/27 -
22-29083956-G-C CHEK2 c.1690C>G p.Arg564Gly Missense 16/16 -
17-7578372-A-G TP53 c.558T>C p.Asp186Asp Synonymous 5/11 -
17-7578372-A-T TP53 c.558T>A p.Asp186Glu Missense 5/11 -
19-1220603-C-T STK11 c.621C>T p.Asp207Asp Synonymous 5/10 -
17-41219633-A-C BRCA1 c.5066T>G p.Met1689Arg Missense 16/23 -
17-41219633-A-G BRCA1 c.5066T>C p.Met1689Thr Missense 16/23 -
16-23619239-G-A PALB2 c.3296C>T p.Thr1099Met Missense 12/13 -
16-23619239-G-C PALB2 c.3296C>G p.Thr1099Arg Missense 12/13 -
17-41243899-A-G BRCA1 c.3649T>C p.Ser1217Pro Missense 10/23 -
17-41243899-A-T BRCA1 c.3649T>A p.Ser1217Thr Missense 10/23 -
17-29490279-C-T NF1 c.364C>T p.His122Tyr Missense 4/57 -
17-41246856-G-A BRCA1 c.692C>T p.Thr231Met Missense 10/23 -
13-32954037-A-C BRCA2 c.9104A>C p.Tyr3035Ser Missense 23/27 -
13-32954037-A-T BRCA2 c.9104A>T p.Tyr3035Phe Missense 23/27 -
11-108143542-C-T ATM c.3247C>T p.His1083Tyr Missense 22/63 -
17-41215915-C-T BRCA1 c.5128G>A p.Gly1710Arg Missense 17/23 -
17-41215915-C-A BRCA1 c.5128G>T p.Gly1710* Nonsense 17/23 -
13-32930687-C-T BRCA2 c.7558C>T p.Arg2520* Nonsense 15/27 -
11-108200991-G-A ATM c.7358G>A p.Arg2453His Missense 50/63 -
17-7578522-T-C TP53 c.408A>G p.Gln136Gln Synonymous 5/11 -
17-7578522-T-G TP53 c.408A>C p.Gln136His Missense 5/11 -
16-23641156-A-C PALB2 c.2319T>G p.Thr773Thr Synonymous 5/13 -
16-23641156-A-G PALB2 c.2319T>C p.Thr773Thr Synonymous 5/13 -
13-32907359-A-G BRCA2 c.1744A>G p.Thr582Ala Missense 10/27 -
13-32907359-A-C BRCA2 c.1744A>C p.Thr582Pro Missense 10/27 -
16-68842668-G-A CDH1 c.604G>A p.Val202Ile Missense 5/16 -
16-68845648-C-T CDH1 c.894C>T p.Ala298Ala Synonymous 7/16 -
17-7579882-C-G TP53 c.31G>C p.Glu11Gln Missense 2/11 -
16-68842668-G-C CDH1 c.604G>C p.Val202Leu Missense 5/16 -
16-68835644-A-G CDH1 c.235A>G p.Thr79Ala Missense 3/16 -
13-32914814-C-T BRCA2 c.6322C>T p.Arg2108Cys Missense 11/27 -
13-32968839-C-A BRCA2 c.9270C>A p.Phe3090Leu Missense 25/27 -
17-41276105-T-A BRCA1 c.9A>T p.Leu3Phe Missense 2/23 -
17-41276105-T-C BRCA1 c.9A>G p.Leu3Leu Synonymous 2/23 -
22-29090061-G-C CHEK2 c.1549C>G p.Arg517Gly Missense 14/16 -
11-108175456-C-T ATM c.5551C>T p.Leu1851Phe Missense 37/63 -
10-89712007-G-T PTEN c.625G>T p.Gly209* Nonsense 6/9 -
10-89712007-G-A PTEN c.625G>A p.Gly209Arg Missense 6/9 -
13-32945109-C-G BRCA2 c.8504C>G p.Ser2835* Nonsense 20/27 -
22-29090061-G-T CHEK2 c.1549C>A p.Arg517Ser Missense 14/16 -
16-68847374-C-G CDH1 c.1296C>G p.Asn432Lys Missense 9/16 -
16-68863607-G-A CDH1 c.2346G>A p.Val782Val Synonymous 15/16 -
13-32893361-A-T BRCA2 c.215A>T p.Asn72Ile Missense 3/27 -
17-7578470-C-T TP53 c.460G>A p.Gly154Ser Missense 5/11 -
22-29121266-G-C CHEK2 c.538C>G p.Arg180Gly Missense 4/16 -
22-29121266-G-A CHEK2 c.538C>T p.Arg180* Nonsense 4/16 -
13-32929178-G-A BRCA2 c.7188G>A p.Leu2396Leu Synonymous 14/27 -
13-32929178-G-T BRCA2 c.7188G>T p.Leu2396Phe Missense 14/27 -
17-7578470-C-G TP53 c.460G>C p.Gly154Arg Missense 5/11 -
10-89717713-G-A PTEN c.738G>A p.Pro246Pro Synonymous 7/9 -
13-32914640-G-A BRCA2 c.6148G>A p.Val2050Ile Missense 11/27 -
11-108151787-G-A ATM c.3468G>A p.Thr1156Thr Synonymous 24/63 -
17-29654671-C-T NF1 c.5360C>T p.Thr1787Met Missense 37/57 -
17-41223118-A-G BRCA1 c.4813T>C p.Leu1605Leu Synonymous 15/23 -
17-41246724-C-T BRCA1 c.824G>A p.Gly275Asp Missense 10/23 -
11-108236206-C-T ATM c.9142C>T p.Leu3048Phe Missense 63/63 -
17-41223118-A-C BRCA1 c.4813T>G p.Leu1605Val Missense 15/23 -
17-41223118-A-T BRCA1 c.4813T>A p.Leu1605Met Missense 15/23 -
13-32972763-T-C BRCA2 c.10113T>C p.Thr3371Thr Synonymous 27/27 -
17-7578210-T-C TP53 c.639A>G p.Arg213Arg Synonymous 6/11 -
16-68842395-G-C CDH1 c.456G>C p.Gln152His Missense 4/16 -
17-7578210-T-A TP53 c.639A>T p.Arg213Arg Synonymous 6/11 -
11-108114792-C-T ATM c.609C>T p.Asp203Asp Synonymous 6/63 -
11-108137985-C-T ATM c.2554C>T p.Gln852* Nonsense 17/63 -
13-32968844-A-T BRCA2 c.9275A>T p.Tyr3092Phe Missense 25/27 -
13-32968844-A-C BRCA2 c.9275A>C p.Tyr3092Ser Missense 25/27 -
13-32911954-C-G BRCA2 c.3462C>G p.Thr1154Thr Synonymous 11/27 -
16-68867342-C-T CDH1 c.2589C>T p.Asn863Asn Synonymous 16/16 -
13-32913077-G-A BRCA2 c.4585G>A p.Gly1529Arg Missense 11/27 -
17-41251831-G-T BRCA1 c.508C>A p.Arg170Arg Synonymous 7/23 -
17-41244984-T-G BRCA1 c.2564A>C p.Gln855Pro Missense 10/23 -
17-41244984-T-A BRCA1 c.2564A>T p.Gln855Leu Missense 10/23 -
17-41244612-C-A BRCA1 c.2936G>T p.Arg979Leu Missense 10/23 -
13-32937526-G-T BRCA2 c.8187G>T p.Lys2729Asn Missense 18/27 -
16-68863630-C-T CDH1 c.2369C>T p.Thr790Ile Missense 15/16 -
19-1221227-G-A STK11 c.750G>A p.Thr250Thr Synonymous 6/10 -
22-29130442-G-A CHEK2 c.268C>T p.Pro90Ser Missense 2/16 -
11-108175539-G-A ATM c.5634G>A p.Ser1878Ser Synonymous 37/63 -
13-32953617-G-A BRCA2 c.8918G>A p.Arg2973His Missense 22/27 -
11-108175539-G-T ATM c.5634G>T p.Ser1878Ser Synonymous 37/63 -
13-32911888-A-C BRCA2 c.3396A>C p.Lys1132Asn Missense 11/27 -
13-32911888-A-G BRCA2 c.3396A>G p.Lys1132Lys Synonymous 11/27 -
17-41245237-A-G BRCA1 c.2311T>C p.Leu771Leu Synonymous 10/23 -
13-32903579-G-A BRCA2 c.632-1G>A - IntronicSNV - 7/26
13-32900706-G-T BRCA2 c.587G>T p.Ser196Ile Missense 7/27 -
13-32945109-C-A BRCA2 c.8504C>A p.Ser2835* Nonsense 20/27 -
17-41267797-C-T BRCA1 c.81-1G>A - IntronicSNV - 2/22
17-41267797-C-G BRCA1 c.81-1G>C - IntronicSNV - 2/22
11-108159732-C-T ATM c.4138C>T p.His1380Tyr Missense 28/63 -
16-23647487-T-C PALB2 c.380A>G p.His127Arg Missense 4/13 -
22-29121241-C-T CHEK2 c.563G>A p.Arg188Gln Missense 4/16 -
22-29121241-C-G CHEK2 c.563G>C p.Arg188Pro Missense 4/16 -
16-23647109-A-AA PALB2 c.758dupT p.Ser254Ilefs*3 Frameshift 4/13 -
22-29090061-G-A CHEK2 c.1549C>T p.Arg517Cys Missense 14/16 -
17-41258531-G-A BRCA1 c.154C>T p.Leu52Phe Missense 4/23 -
13-32903606-TGT-T BRCA2 c.658_659delGT p.Val220Ilefs*4 Frameshift 8/27 -
17-41258531-G-T BRCA1 c.154C>A p.Leu52Ile Missense 4/23 -
13-32945167-T-G BRCA2 c.8562T>G p.Tyr2854* Nonsense 20/27 -
13-32945167-T-A BRCA2 c.8562T>A p.Tyr2854* Nonsense 20/27 -
13-32945167-T-C BRCA2 c.8562T>C p.Tyr2854Tyr Synonymous 20/27 -
16-68863674-G-A CDH1 c.2413G>A p.Asp805Asn Missense 15/16 -
16-68772305-C-G CDH1 c.154C>G p.Leu52Val Missense 2/16 -
11-108122704-A-G ATM c.1748A>G p.Tyr583Cys Missense 11/63 -
17-41246037-C-T BRCA1 c.1511G>A p.Arg504His Missense 10/23 -
17-29560087-A-G NF1 c.3564A>G p.Gln1188Gln Synonymous 27/57 -
16-68842419-C-T CDH1 c.480C>T p.Pro160Pro Synonymous 4/16 -
17-41244004-G-A BRCA1 c.3544C>T p.Gln1182* Nonsense 10/23 -
13-32912395-T-C BRCA2 c.3903T>C p.Thr1301Thr Synonymous 11/27 -
11-108201015-G-C ATM c.7382G>C p.Arg2461Pro Missense 50/63 -
13-32913027-G-C BRCA2 c.4535G>C p.Arg1512Pro Missense 11/27 -
11-108160359-T-A ATM c.4267T>A p.Cys1423Ser Missense 29/63 -
13-32929042-C-G BRCA2 c.7052C>G p.Ala2351Gly Missense 14/27 -
17-41244405-C-T BRCA1 c.3143G>A p.Gly1048Asp Missense 10/23 -
11-108143287-T-C ATM c.3106T>C p.Phe1036Leu Missense 21/63 -
16-23646675-C-T PALB2 c.1192G>A p.Val398Met Missense 4/13 -
13-32929042-C-T BRCA2 c.7052C>T p.Ala2351Val Missense 14/27 -
11-108124764-G-A ATM c.2122G>A p.Glu708Lys Missense 13/63 -
11-108201015-G-A ATM c.7382G>A p.Arg2461His Missense 50/63 -
17-41243801-G-T BRCA1 c.3747C>A p.Thr1249Thr Synonymous 10/23 -
17-41243801-G-C BRCA1 c.3747C>G p.Thr1249Thr Synonymous 10/23 -
17-41243801-G-A BRCA1 c.3747C>T p.Thr1249Thr Synonymous 10/23 -
13-32907183-A-G BRCA2 c.1568A>G p.His523Arg Missense 10/27 -
11-108236086-C-G ATM c.9022C>G p.Arg3008Gly Missense 63/63 -
11-108236086-C-T ATM c.9022C>T p.Arg3008Cys Missense 63/63 -
19-1221218-C-T STK11 c.741C>T p.Asn247Asn Synonymous 6/10 -
16-23641409-G-A PALB2 c.2066C>T p.Ser689Leu Missense 5/13 -
13-32907183-A-T BRCA2 c.1568A>T p.His523Leu Missense 10/27 -
13-32914592-C-T BRCA2 c.6100C>T p.Arg2034Cys Missense 11/27 -
13-32914592-C-A BRCA2 c.6100C>A p.Arg2034Ser Missense 11/27 -
16-68855966-G-A CDH1 c.1774G>A p.Ala592Thr Missense 12/16 -
16-68855966-G-T CDH1 c.1774G>T p.Ala592Ser Missense 12/16 -
10-89720852-C-T PTEN c.1003C>T p.Arg335* Nonsense 8/9 -
10-89720852-C-A PTEN c.1003C>A p.Arg335Arg Synonymous 8/9 -
22-29107934-C-T CHEK2 c.884G>A p.Ser295Asn Missense 7/16 -
13-32912812-A-G BRCA2 c.4320A>G p.Lys1440Lys Synonymous 11/27 -
13-32929011-C-T BRCA2 c.7021C>T p.Arg2341Cys Missense 14/27 -
17-41203106-T-C BRCA1 c.5306A>G p.Tyr1769Cys Missense 20/23 -
17-41276043-C-T BRCA1 c.71G>A p.Cys24Tyr Missense 2/23 -
11-108206651-A-C ATM c.8231A>C p.Glu2744Ala Missense 56/63 -
16-23647575-T-C PALB2 c.292A>G p.Ile98Val Missense 4/13 -
11-108186600-T-C ATM c.6057T>C p.Tyr2019Tyr Synonymous 41/63 -
11-108172385-C-T ATM c.5188C>T p.Arg1730* Nonsense 35/63 -
19-1218482-C-T STK11 c.357C>T p.Asn119Asn Synonymous 2/10 -
11-108143283-T-G ATM c.3102T>G p.Tyr1034* Nonsense 21/63 -
11-108143283-T-C ATM c.3102T>C p.Tyr1034Tyr Synonymous 21/63 -
11-108204615-G-A ATM c.7930G>A p.Gly2644Ser Missense 54/63 -
11-108204615-G-C ATM c.7930G>C p.Gly2644Arg Missense 54/63 -
16-23637632-G-C PALB2 c.2673C>G p.Cys891Trp Missense 7/13 -
16-23637632-G-A PALB2 c.2673C>T p.Cys891Cys Synonymous 7/13 -
16-23637632-G-T PALB2 c.2673C>A p.Cys891* Nonsense 7/13 -
13-32906847-T-C BRCA2 c.1232T>C p.Ile411Thr Missense 10/27 -
17-7576568-C-T TP53 c.993+285G>A - IntronicSNV - 9/10
17-29508775-G-A NF1 c.702G>A p.Leu234Leu Synonymous 7/57 -
17-41246346-C-G BRCA1 c.1202G>C p.Gly401Ala Missense 10/23 -
17-41246346-C-T BRCA1 c.1202G>A p.Gly401Glu Missense 10/23 -
22-29083950-G-T CHEK2 c.1696C>A p.Arg566Ser Missense 16/16 -
22-29083950-G-C CHEK2 c.1696C>G p.Arg566Gly Missense 16/16 -
17-41245932-G-T BRCA1 c.1616C>A p.Thr539Lys Missense 10/23 -
17-41243502-G-A BRCA1 c.4046C>T p.Thr1349Met Missense 10/23 -
17-41243502-G-C BRCA1 c.4046C>G p.Thr1349Arg Missense 10/23 -
17-7577091-G-C TP53 c.847C>G p.Arg283Gly Missense 8/11 -
19-1226491-C-G STK11 c.1147C>G p.Arg383Gly Missense 9/10 -
13-32945110-A-G BRCA2 c.8505A>G p.Ser2835Ser Synonymous 20/27 -
17-41245932-G-A BRCA1 c.1616C>T p.Thr539Met Missense 10/23 -
19-1223126-G-C STK11 c.1063G>C p.Asp355His Missense 8/10 -
17-7576541-G-A TP53 c.993+312C>T - IntronicSNV - 9/10
19-1221967-G-A STK11 c.882G>A p.Pro294Pro Synonymous 7/10 -
16-23641246-A-T PALB2 c.2229T>A p.Tyr743* Nonsense 5/13 -
17-41243988-C-T BRCA1 c.3560G>A p.Ser1187Asn Missense 10/23 -
19-1220466-G-A STK11 c.559G>A p.Gly187Ser Missense 4/10 -
17-41251811-C-T BRCA1 c.528G>A p.Thr176Thr Synonymous 7/23 -
16-23641057-C-A PALB2 c.2418G>T p.Pro806Pro Synonymous 5/13 -
17-29552241-C-A NF1 c.1974C>A p.Leu658Leu Synonymous 17/57 -
13-32913662-A-G BRCA2 c.5170A>G p.Ile1724Val Missense 11/27 -
17-29552241-C-T NF1 c.1974C>T p.Leu658Leu Synonymous 17/57 -
10-89720804-A-AA PTEN c.955dupA p.Thr319Asnfs*6 Frameshift 8/9 -
17-29676194-C-T NF1 c.7183C>T p.Leu2395Leu Synonymous 48/57 -
11-108155132-G-A ATM c.3925G>A p.Ala1309Thr Missense 26/63 -
17-29497004-G-A NF1 c.575G>A p.Arg192Gln Missense 5/57 -
17-41215969-C-G BRCA1 c.5075-1G>C - IntronicSNV - 16/22
17-41197784-G-A BRCA1 c.5503C>T p.Arg1835* Nonsense 23/23 -
17-41215969-C-T BRCA1 c.5075-1G>A - IntronicSNV - 16/22
17-41215969-C-A BRCA1 c.5075-1G>T - IntronicSNV - 16/22
13-32972800-C-G BRCA2 c.10150C>G p.Arg3384Gly Missense 27/27 -
22-29107975-G-A CHEK2 c.843C>T p.Phe281Phe Synonymous 7/16 -
13-32972800-C-T BRCA2 c.10150C>T p.Arg3384* Nonsense 27/27 -
19-1226538-G-C STK11 c.1194G>C p.Ala398Ala Synonymous 9/10 -
17-7579441-C-T TP53 c.246G>A p.Pro82Pro Synonymous 4/11 -
22-29121015-C-T CHEK2 c.671G>A p.Arg224His Missense 5/16 -
11-108175550-G-C ATM c.5645G>C p.Arg1882Pro Missense 37/63 -
16-23637698-G-A PALB2 c.2607C>T p.Ser869Ser Synonymous 7/13 -
16-68867228-G-A CDH1 c.2475G>A p.Pro825Pro Synonymous 16/16 -
17-29556369-A-G NF1 c.2736A>G p.Gln912Gln Synonymous 21/57 -
11-108206607-A-T ATM c.8187A>T p.Gln2729His Missense 56/63 -
11-108235879-C-T ATM c.8921C>T p.Pro2974Leu Missense 62/63 -
11-108206607-A-C ATM c.8187A>C p.Gln2729His Missense 56/63 -
17-41215389-C-T BRCA1 c.5154G>A p.Trp1718* Nonsense 18/23 -
11-108188234-T-C ATM c.6333T>C p.His2111His Synonymous 43/63 -
17-41215389-C-A BRCA1 c.5154G>T p.Trp1718Cys Missense 18/23 -
17-41244526-T-C BRCA1 c.3022A>G p.Met1008Val Missense 10/23 -
16-68867388-G-C CDH1 c.2635G>C p.Gly879Arg Missense 16/16 -
17-41244526-T-G BRCA1 c.3022A>C p.Met1008Leu Missense 10/23 -
11-108160424-G-A ATM c.4332G>A p.Leu1444Leu Synonymous 29/63 -
16-68867388-G-A CDH1 c.2635G>A p.Gly879Ser Missense 16/16 -
11-108160424-G-C ATM c.4332G>C p.Leu1444Leu Synonymous 29/63 -
13-32907014-A-T BRCA2 c.1399A>T p.Lys467* Nonsense 10/27 -
11-108100042-C-G ATM c.323C>G p.Ala108Gly Missense 4/63 -
11-108200961-G-A ATM c.7328G>A p.Arg2443Gln Missense 50/63 -
11-108203619-C-T ATM c.7919C>T p.Thr2640Ile Missense 53/63 -
16-68847239-C-T CDH1 c.1161C>T p.Asn387Asn Synonymous 9/16 -
13-32893420-C-T BRCA2 c.274C>T p.Gln92* Nonsense 3/27 -
11-108165736-A-C ATM c.4859A>C p.Gln1620Pro Missense 32/63 -
17-29585451-G-T NF1 c.4200G>T p.Pro1400Pro Synonymous 31/57 -
17-41244100-G-A BRCA1 c.3448C>T p.Pro1150Ser Missense 10/23 -
13-32913091-A-C BRCA2 c.4599A>C p.Lys1533Asn Missense 11/27 -
17-29548980-T-C NF1 c.1721+33T>C - IntronicSNV - 15/56
17-29585451-G-A NF1 c.4200G>A p.Pro1400Pro Synonymous 31/57 -
11-108099977-A-G ATM c.258A>G p.Thr86Thr Synonymous 4/63 -
13-32906673-C-T BRCA2 c.1058C>T p.Ser353Leu Missense 10/27 -
19-1226534-C-T STK11 c.1190C>T p.Ala397Val Missense 9/10 -
16-68862117-G-A CDH1 c.2205G>A p.Ala735Ala Synonymous 14/16 -
19-1226534-C-A STK11 c.1190C>A p.Ala397Glu Missense 9/10 -
11-108216545-C-T ATM c.8494C>T p.Arg2832Cys Missense 58/63 -
17-41203085-G-T BRCA1 c.5327C>A p.Pro1776His Missense 20/23 -
19-1223171-G-A STK11 c.1108G>A p.Gly370Arg Missense 8/10 -
17-7574017-C-T TP53 c.1010G>A p.Arg337His Missense 10/11 -
17-7574017-C-A TP53 c.1010G>T p.Arg337Leu Missense 10/11 -
17-29667656-A-G NF1 c.6992A>G p.Asn2331Ser Missense 46/57 -
17-7573948-C-G TP53 c.1079G>C p.Gly360Ala Missense 10/11 -
11-108173748-A-G ATM c.5488A>G p.Met1830Val Missense 36/63 -
17-41244429-C-G BRCA1 c.3119G>C p.Ser1040Thr Missense 10/23 -
17-41244429-C-T BRCA1 c.3119G>A p.Ser1040Asn Missense 10/23 -
19-1223080-G-A STK11 c.1017G>A p.Pro339Pro Synonymous 8/10 -
17-29686024-G-A NF1 c.8088G>A p.Pro2696Pro Synonymous 55/57 -
13-32930598-T-C BRCA2 c.7469T>C p.Ile2490Thr Missense 15/27 -
13-32893381-A-G BRCA2 c.235A>G p.Ile79Val Missense 3/27 -
17-41246753-A-G BRCA1 c.795T>C p.Ser265Ser Synonymous 10/23 -
16-68846047-A-T CDH1 c.1018A>T p.Thr340Ser Missense 8/16 -
16-23637631-C-T PALB2 c.2674G>A p.Glu892Lys Missense 7/13 -
16-23641146-C-T PALB2 c.2329G>A p.Asp777Asn Missense 5/13 -
10-89692904-C-T PTEN c.388C>T p.Arg130* Nonsense 5/9 -
16-68846047-A-G CDH1 c.1018A>G p.Thr340Ala Missense 8/16 -
16-23647638-A-G PALB2 c.229T>C p.Cys77Arg Missense 4/13 -
16-23637631-C-A PALB2 c.2674G>T p.Glu892* Nonsense 7/13 -
16-68844111-C-G CDH1 c.699C>G p.His233Gln Missense 6/16 -
16-68844111-C-T CDH1 c.699C>T p.His233His Synonymous 6/16 -
17-41244796-T-TA BRCA1 c.2751_2752insT p.Lys918*fs*1 Nonsense 10/23 -
17-29664860-G-A NF1 c.6603G>A p.Thr2201Thr Synonymous 43/57 -
17-29664860-G-C NF1 c.6603G>C p.Thr2201Thr Synonymous 43/57 -
19-1223080-G-C STK11 c.1017G>C p.Pro339Pro Synonymous 8/10 -
16-68867391-G-C CDH1 c.2638G>C p.Glu880Gln Missense 16/16 -
16-68857441-T-C CDH1 c.2076T>C p.Ala692Ala Synonymous 13/16 -
19-1221278-C-T STK11 c.801C>T p.Ile267Ile Synonymous 6/10 -
16-23641247-T-A PALB2 c.2228A>T p.Tyr743Phe Missense 5/13 -
16-23641247-T-C PALB2 c.2228A>G p.Tyr743Cys Missense 5/13 -
13-32893224-A-G BRCA2 c.78A>G p.Pro26Pro Synonymous 3/27 -
17-41234431-T-C BRCA1 c.4347A>G p.Thr1449Thr Synonymous 12/23 -
19-1220705-T-C STK11 c.723T>C p.Ala241Ala Synonymous 5/10 -
13-32905116-G-A BRCA2 c.742G>A p.Ala248Thr Missense 9/27 -
10-89690827-C-T PTEN c.234C>T p.Thr78Thr Synonymous 4/9 -
17-41251831-G-A BRCA1 c.508C>T p.Arg170Trp Missense 7/23 -
13-32968844-A-G BRCA2 c.9275A>G p.Tyr3092Cys Missense 25/27 -
13-32972548-C-A BRCA2 c.9898C>A p.Pro3300Thr Missense 27/27 -
16-23647514-A-G PALB2 c.353T>C p.Ile118Thr Missense 4/13 -
13-32972548-C-T BRCA2 c.9898C>T p.Pro3300Ser Missense 27/27 -
22-29085152-A-G CHEK2 c.1642T>C p.Ser548Pro Missense 15/16 -
22-29092961-G-A CHEK2 c.1152C>T p.Asn384Asn Synonymous 11/16 -
13-32968855-G-T BRCA2 c.9286G>T p.Glu3096* Nonsense 25/27 -
17-41256154-G-C BRCA1 c.426C>G p.Pro142Pro Synonymous 6/23 -
17-7578414-A-C TP53 c.516T>G p.Val172Val Synonymous 5/11 -
11-108119802-C-A ATM c.1208C>A p.Ser403* Nonsense 9/63 -
10-89717676-G-A PTEN c.701G>A p.Arg234Gln Missense 7/9 -
11-108117764-T-C ATM c.975T>C p.His325His Synonymous 8/63 -
13-32911887-A-G BRCA2 c.3395A>G p.Lys1132Arg Missense 11/27 -
13-32903579-G-C BRCA2 c.632-1G>C - IntronicSNV - 7/26
17-41244984-T-C BRCA1 c.2564A>G p.Gln855Arg Missense 10/23 -
22-29085152-A-C CHEK2 c.1642T>G p.Ser548Ala Missense 15/16 -
16-23614962-A-G PALB2 c.3379T>C p.Cys1127Arg Missense 13/13 -
13-32968855-G-A BRCA2 c.9286G>A p.Glu3096Lys Missense 25/27 -
17-41249284-G-T BRCA1 c.570C>A p.Thr190Thr Synonymous 8/23 -
17-41256154-G-A BRCA1 c.426C>T p.Pro142Pro Synonymous 6/23 -
17-41256153-C-A BRCA1 c.427G>T p.Glu143* Nonsense 6/23 -
11-108186756-C-T ATM c.6114C>T p.His2038His Synonymous 42/63 -
16-68847239-C-A CDH1 c.1161C>A p.Asn387Lys Missense 9/16 -
17-41243988-C-G BRCA1 c.3560G>C p.Ser1187Thr Missense 10/23 -
17-29533389-G-A NF1 c.1392G>A p.Pro464Pro Synonymous 12/57 -
17-29533389-G-T NF1 c.1392G>T p.Pro464Pro Synonymous 12/57 -
17-29560153-A-G NF1 c.3630A>G p.Glu1210Glu Synonymous 27/57 -
13-32929116-G-A BRCA2 c.7126G>A p.Ala2376Thr Missense 14/27 -
13-32929116-G-C BRCA2 c.7126G>C p.Ala2376Pro Missense 14/27 -
13-32907259-G-A BRCA2 c.1644G>A p.Gln548Gln Synonymous 10/27 -
16-68867273-C-T CDH1 c.2520C>T p.Ser840Ser Synonymous 16/16 -
16-68835787-G-A CDH1 c.378G>A p.Pro126Pro Synonymous 3/16 -
16-68835787-G-T CDH1 c.378G>T p.Pro126Pro Synonymous 3/16 -
17-41243696-G-A BRCA1 c.3852C>T p.His1284His Synonymous 10/23 -
13-32910619-G-A BRCA2 c.2127G>A p.Leu709Leu Synonymous 11/27 -
13-32910619-G-C BRCA2 c.2127G>C p.Leu709Leu Synonymous 11/27 -
16-68847248-C-T CDH1 c.1170C>T p.Asn390Asn Synonymous 9/16 -
13-32930634-G-T BRCA2 c.7505G>T p.Arg2502Leu Missense 15/27 -
13-32930634-G-C BRCA2 c.7505G>C p.Arg2502Pro Missense 15/27 -
17-29684080-A-G NF1 c.7778A>G p.Lys2593Arg Missense 52/57 -
17-41247881-A-G BRCA1 c.652T>C p.Leu218Leu Synonymous 9/23 -
11-108137906-C-T ATM c.2475C>T p.Phe825Phe Synonymous 17/63 -
17-29684077-C-T NF1 c.7775C>T p.Pro2592Leu Missense 52/57 -
13-32969018-C-T BRCA2 c.9449C>T p.Pro3150Leu Missense 25/27 -
17-7576655-G-A TP53 c.993+198C>T - IntronicSNV - 9/10
19-1221319-C-A STK11 c.842C>A p.Pro281Gln Missense 6/10 -
17-41215947-C-A BRCA1 c.5096G>T p.Arg1699Leu Missense 17/23 -
17-41215947-C-G BRCA1 c.5096G>C p.Arg1699Pro Missense 17/23 -
22-29091781-C-T CHEK2 c.1305G>A p.Ala435Ala Synonymous 12/16 -
22-29091754-A-G CHEK2 c.1332T>C p.Thr444Thr Synonymous 12/16 -
19-1226627-C-T STK11 c.1283C>T p.Ser428Leu Missense 9/10 -
17-41243015-G-T BRCA1 c.4131C>A p.Ser1377Arg Missense 11/23 -
13-32906980-A-G BRCA2 c.1365A>G p.Ser455Ser Synonymous 10/27 -
17-29654537-A-G NF1 c.5226A>G p.Gln1742Gln Synonymous 37/57 -
17-7573948-C-A TP53 c.1079G>T p.Gly360Val Missense 10/11 -
17-29556255-G-A NF1 c.2622G>A p.Lys874Lys Synonymous 21/57 -
13-32914137-C-G BRCA2 c.5645C>G p.Ser1882* Nonsense 11/27 -
13-32914137-C-A BRCA2 c.5645C>A p.Ser1882* Nonsense 11/27 -
19-1220645-G-T STK11 c.663G>T p.Pro221Pro Synonymous 5/10 -
13-32911304-AGCAA-A BRCA2 c.2812_2815delGCAA p.Ala938Profs*21 Frameshift 11/27 -
19-1221319-C-T STK11 c.842C>T p.Pro281Leu Missense 6/10 -
17-41215947-C-T BRCA1 c.5096G>A p.Arg1699Gln Missense 17/23 -
22-29091781-C-A CHEK2 c.1305G>T p.Ala435Ala Synonymous 12/16 -
19-1220645-G-A STK11 c.663G>A p.Pro221Pro Synonymous 5/10 -
17-41243015-G-A BRCA1 c.4131C>T p.Ser1377Ser Synonymous 11/23 -
13-32914468-A-G BRCA2 c.5976A>G p.Ser1992Ser Synonymous 11/27 -
17-7579579-C-T TP53 c.108G>A p.Pro36Pro Synonymous 4/11 -
17-7579882-C-T TP53 c.31G>A p.Glu11Lys Missense 2/11 -
16-68862130-C-G CDH1 c.2218C>G p.Pro740Ala Missense 14/16 -
16-68862130-C-T CDH1 c.2218C>T p.Pro740Ser Missense 14/16 -
22-29091846-G-A CHEK2 c.1240C>T p.His414Tyr Missense 12/16 -
13-32929232-A-G BRCA2 c.7242A>G p.Ser2414Ser Synonymous 14/27 -
17-29585418-C-G NF1 c.4167C>G p.Phe1389Leu Missense 31/57 -
22-29090054-G-A CHEK2 c.1556C>T p.Thr519Met Missense 14/16 -
13-32912212-G-A BRCA2 c.3720G>A p.Leu1240Leu Synonymous 11/27 -
11-108142018-A-G ATM c.2962A>G p.Lys988Glu Missense 20/63 -
16-23646942-T-C PALB2 c.925A>G p.Ile309Val Missense 4/13 -
13-32954042-C-T BRCA2 c.9109C>T p.Gln3037* Nonsense 23/27 -
13-32954042-C-A BRCA2 c.9109C>A p.Gln3037Lys Missense 23/27 -
19-1221319-C-G STK11 c.842C>G p.Pro281Arg Missense 6/10 -
16-23614909-G-A PALB2 c.3432C>T p.Leu1144Leu Synonymous 13/13 -
16-23614909-G-C PALB2 c.3432C>G p.Leu1144Leu Synonymous 13/13 -
11-108170543-T-C ATM c.5108T>C p.Phe1703Ser Missense 34/63 -
16-23641186-C-G PALB2 c.2289G>C p.Leu763Phe Missense 5/13 -
16-23646410-T-A PALB2 c.1457A>T p.Lys486Ile Missense 4/13 -
16-68856122-G-C CDH1 c.1930G>C p.Asp644His Missense 12/16 -
16-68856122-G-A CDH1 c.1930G>A p.Asp644Asn Missense 12/16 -
10-89720797-A-G PTEN c.948A>G p.Leu316Leu Synonymous 8/9 -
22-29091133-C-G CHEK2 c.1486G>C p.Ala496Pro Missense 13/16 -
19-1226538-G-A STK11 c.1194G>A p.Ala398Ala Synonymous 9/10 -
22-29083920-T-C CHEK2 c.1726A>G p.Thr576Ala Missense 16/16 -
22-29083920-T-A CHEK2 c.1726A>T p.Thr576Ser Missense 16/16 -
16-68867247-G-C CDH1 c.2494G>C p.Val832Leu Missense 16/16 -
16-68867247-G-A CDH1 c.2494G>A p.Val832Met Missense 16/16 -
22-29121000-T-C CHEK2 c.686A>G p.Asn229Ser Missense 5/16 -
17-41244435-T-C BRCA1 c.3113A>G p.Glu1038Gly Missense 10/23 -
13-32906579-A-C BRCA2 c.964A>C p.Lys322Gln Missense 10/27 -
11-108178644-T-C ATM c.5695T>C p.Cys1899Arg Missense 38/63 -
17-7579484-T-C TP53 c.203A>G p.Glu68Gly Missense 4/11 -
22-29130426-C-G CHEK2 c.284G>C p.Arg95Pro Missense 2/16 -
13-32953617-G-C BRCA2 c.8918G>C p.Arg2973Pro Missense 22/27 -
17-41276070-A-G BRCA1 c.44T>C p.Ile15Thr Missense 2/23 -
17-41246512-G-A BRCA1 c.1036C>T p.Pro346Ser Missense 10/23 -
19-1226627-C-A STK11 c.1283C>A p.Ser428* Nonsense 9/10 -
13-32914521-T-G BRCA2 c.6029T>G p.Val2010Gly Missense 11/27 -
16-23641520-C-T PALB2 c.1955G>A p.Ser652Asn Missense 5/13 -
13-32944627-C-A BRCA2 c.8420C>A p.Ser2807* Nonsense 19/27 -
13-32944627-C-T BRCA2 c.8420C>T p.Ser2807Leu Missense 19/27 -
17-29562685-A-T NF1 c.3765A>T p.Gln1255His Missense 28/57 -
17-29562685-A-G NF1 c.3765A>G p.Gln1255Gln Synonymous 28/57 -
17-41223179-G-A BRCA1 c.4752C>T p.Ala1584Ala Synonymous 15/23 -
17-41215920-G-C BRCA1 c.5123C>G p.Ala1708Gly Missense 17/23 -
17-41215920-G-A BRCA1 c.5123C>T p.Ala1708Val Missense 17/23 -
11-108154985-G-A ATM c.3778G>A p.Val1260Met Missense 26/63 -
17-41215920-G-T BRCA1 c.5123C>A p.Ala1708Glu Missense 17/23 -
17-41201211-T-C BRCA1 c.5333A>G p.Asp1778Gly Missense 21/23 -
11-108153474-G-A ATM c.3614G>A p.Arg1205His Missense 25/63 -
17-41203135-C-T BRCA1 c.5278-1G>A - IntronicSNV - 19/22
17-41244936-G-A BRCA1 c.2612C>T p.Pro871Leu Missense 10/23 -
17-41244936-G-C BRCA1 c.2612C>G p.Pro871Arg Missense 10/23 -
13-32911593-T-C BRCA2 c.3101T>C p.Ile1034Thr Missense 11/27 -
13-32907262-G-A BRCA2 c.1647G>A p.Lys549Lys Synonymous 10/27 -
16-23647149-G-T PALB2 c.718C>A p.Pro240Thr Missense 4/13 -
16-68853296-C-G CDH1 c.1679C>G p.Thr560Arg Missense 11/16 -
16-68853296-C-T CDH1 c.1679C>T p.Thr560Met Missense 11/16 -
11-108214071-T-C ATM c.8391T>C p.Ser2797Ser Synonymous 57/63 -
17-41203135-C-G BRCA1 c.5278-1G>C - IntronicSNV - 19/22
13-32910444-A-G BRCA2 c.1952A>G p.Asp651Gly Missense 11/27 -
17-41244936-G-T BRCA1 c.2612C>A p.Pro871Gln Missense 10/23 -
22-29083962-G-C CHEK2 c.1684C>G p.Arg562Gly Missense 16/16 -
22-29083962-G-A CHEK2 c.1684C>T p.Arg562* Nonsense 16/16 -
17-41203135-C-A BRCA1 c.5278-1G>T - IntronicSNV - 19/22
11-108206666-A-G ATM c.8246A>G p.Lys2749Arg Missense 56/63 -
17-29663850-G-T NF1 c.6282G>T p.Pro2094Pro Synonymous 41/57 -
11-108206666-A-T ATM c.8246A>T p.Lys2749Ile Missense 56/63 -
16-23640969-C-T PALB2 c.2506G>A p.Val836Ile Missense 5/13 -
16-23640969-C-G PALB2 c.2506G>C p.Val836Leu Missense 5/13 -
16-23640969-C-A PALB2 c.2506G>T p.Val836Phe Missense 5/13 -
17-41244748-G-A BRCA1 c.2800C>T p.Gln934* Nonsense 10/23 -
17-29684090-G-T NF1 c.7788G>T p.Ala2596Ala Synonymous 52/57 -
11-108127004-C-T ATM c.2187C>T p.Tyr729Tyr Synonymous 14/63 -
11-108160457-T-A ATM c.4365T>A p.Ser1455Arg Missense 29/63 -
17-29546036-A-C NF1 c.1541A>C p.Gln514Pro Missense 14/57 -
13-32915106-T-G BRCA2 c.6614T>G p.Val2205Gly Missense 11/27 -
22-29130426-C-T CHEK2 c.284G>A p.Arg95Gln Missense 2/16 -
16-68849598-G-T CDH1 c.1501G>T p.Val501Leu Missense 10/16 -
17-41234580-T-C BRCA1 c.4198A>G p.Met1400Val Missense 12/23 -
13-32905069-A-G BRCA2 c.695A>G p.Tyr232Cys Missense 9/27 -
13-32900706-G-A BRCA2 c.587G>A p.Ser196Asn Missense 7/27 -
17-7579542-C-G TP53 c.145G>C p.Asp49His Missense 4/11 -
17-7579542-C-T TP53 c.145G>A p.Asp49Asn Missense 4/11 -
11-108200946-C-G ATM c.7313C>G p.Thr2438Arg Missense 50/63 -
17-7576655-G-T TP53 c.993+198C>A - IntronicSNV - 9/10
13-32911312-A-G BRCA2 c.2820A>G p.Gln940Gln Synonymous 11/27 -
16-68849598-G-A CDH1 c.1501G>A p.Val501Met Missense 10/16 -
11-108175550-G-A ATM c.5645G>A p.Arg1882Gln Missense 37/63 -
17-41244000-T-A BRCA1 c.3548A>T p.Lys1183Ile Missense 10/23 -
17-41244000-T-C BRCA1 c.3548A>G p.Lys1183Arg Missense 10/23 -
11-108168053-A-C ATM c.4949A>C p.Asn1650Thr Missense 33/63 -
17-41249284-G-A BRCA1 c.570C>T p.Thr190Thr Synonymous 8/23 -
13-32914277-A-G BRCA2 c.5785A>G p.Ile1929Val Missense 11/27 -
13-32910701-G-T BRCA2 c.2209G>T p.Ala737Ser Missense 11/27 -
11-108200946-C-T ATM c.7313C>T p.Thr2438Ile Missense 50/63 -
17-29483084-A-G NF1 c.144A>G p.Lys48Lys Synonymous 2/57 -
17-41243841-T-C BRCA1 c.3707A>G p.Asn1236Ser Missense 10/23 -
16-68849662-C-A CDH1 c.1565C>A p.Thr522Lys Missense 10/16 -
11-108126944-T-G ATM c.2127T>G p.Ile709Met Missense 14/63 -
19-1226601-C-G STK11 c.1257C>G p.Ser419Ser Synonymous 9/10 -
19-1226601-C-T STK11 c.1257C>T p.Ser419Ser Synonymous 9/10 -
17-7578262-C-A TP53 c.587G>T p.Arg196Leu Missense 6/11 -
17-7578262-C-G TP53 c.587G>C p.Arg196Pro Missense 6/11 -
17-29528168-A-G NF1 c.1176A>G p.Gln392Gln Synonymous 10/57 -
19-1220708-G-A STK11 c.726G>A p.Gly242Gly Synonymous 5/10 -
13-32914725-G-T BRCA2 c.6233G>T p.Gly2078Val Missense 11/27 -
11-108121543-C-T ATM c.1351C>T p.Arg451Cys Missense 10/63 -
13-32914725-G-A BRCA2 c.6233G>A p.Gly2078Glu Missense 11/27 -
17-29676161-A-G NF1 c.7150A>G p.Ile2384Val Missense 48/57 -
13-32914200-T-C BRCA2 c.5708T>C p.Ile1903Thr Missense 11/27 -
17-29585418-C-T NF1 c.4167C>T p.Phe1389Phe Synonymous 31/57 -
17-7579358-C-T TP53 c.329G>A p.Arg110His Missense 4/11 -
13-32929232-A-T BRCA2 c.7242A>T p.Ser2414Ser Synonymous 14/27 -
16-68853202-A-C CDH1 c.1585A>C p.Thr529Pro Missense 11/16 -
17-7579358-C-G TP53 c.329G>C p.Arg110Pro Missense 4/11 -
17-7579358-C-A TP53 c.329G>T p.Arg110Leu Missense 4/11 -
17-7579706-G-A TP53 c.90C>T p.Asn30Asn Synonymous 3/11 -
16-68849456-C-T CDH1 c.1359C>T p.His453His Synonymous 10/16 -
17-41244617-T-C BRCA1 c.2931A>G p.Pro977Pro Synonymous 10/23 -
13-32910953-G-A BRCA2 c.2461G>A p.Val821Ile Missense 11/27 -
13-32910718-A-G BRCA2 c.2226A>G p.Gln742Gln Synonymous 11/27 -
16-68862165-C-A CDH1 c.2253C>A p.Asn751Lys Missense 14/16 -
16-68835753-C-T CDH1 c.344C>T p.Thr115Met Missense 3/16 -
19-1223055-G-A STK11 c.992G>A p.Arg331Gln Missense 8/10 -
17-29556180-A-C NF1 c.2547A>C p.Gly849Gly Synonymous 21/57 -
16-68857445-G-A CDH1 c.2080G>A p.Val694Ile Missense 13/16 -
13-32972853-G-C BRCA2 c.10203G>C p.Thr3401Thr Synonymous 27/27 -
17-41245390-C-A BRCA1 c.2158G>T p.Glu720* Nonsense 10/23 -
17-7579705-C-T TP53 c.91G>A p.Val31Ile Missense 3/11 -
11-108224583-C-A ATM c.8762C>A p.Thr2921Lys Missense 60/63 -
17-41219701-G-C BRCA1 c.4998C>G p.Tyr1666* Nonsense 16/23 -
13-32906957-C-T BRCA2 c.1342C>T p.Arg448Cys Missense 10/27 -
13-32906957-C-A BRCA2 c.1342C>A p.Arg448Ser Missense 10/27 -
16-23646645-A-C PALB2 c.1222T>G p.Tyr408Asp Missense 4/13 -
13-32912868-A-G BRCA2 c.4376A>G p.Asn1459Ser Missense 11/27 -
16-23646645-A-G PALB2 c.1222T>C p.Tyr408His Missense 4/13 -
11-108121767-G-C ATM c.1575G>C p.Lys525Asn Missense 10/63 -
10-89720749-C-T PTEN c.900C>T p.Ile300Ile Synonymous 8/9 -
13-32914174-C-A BRCA2 c.5682C>A p.Tyr1894* Nonsense 11/27 -
17-29490284-C-T NF1 c.369C>T p.Thr123Thr Synonymous 4/57 -
13-32930633-C-T BRCA2 c.7504C>T p.Arg2502Cys Missense 15/27 -
17-7579366-G-A TP53 c.321C>T p.Tyr107Tyr Synonymous 4/11 -
16-68863641-G-A CDH1 c.2380G>A p.Val794Ile Missense 15/16 -
19-1219380-G-A STK11 c.432G>A p.Pro144Pro Synonymous 3/10 -
11-108200991-G-C ATM c.7358G>C p.Arg2453Pro Missense 50/63 -
17-29546048-C-T NF1 c.1553C>T p.Thr518Ile Missense 14/57 -
16-23646911-G-T PALB2 c.956C>A p.Ser319Tyr Missense 4/13 -
13-32954037-A-G BRCA2 c.9104A>G p.Tyr3035Cys Missense 23/27 -
17-41222946-A-G BRCA1 c.4985T>C p.Phe1662Ser Missense 15/23 -
17-41222946-A-C BRCA1 c.4985T>G p.Phe1662Cys Missense 15/23 -
11-108216581-A-G ATM c.8530A>G p.Ile2844Val Missense 58/63 -
17-29546048-C-A NF1 c.1553C>A p.Thr518Asn Missense 14/57 -
13-32900670-T-C BRCA2 c.551T>C p.Leu184Pro Missense 7/27 -
13-32906648-A-G BRCA2 c.1033A>G p.Lys345Glu Missense 10/27 -
17-41209095-G-A BRCA1 c.5251C>T p.Arg1751* Nonsense 19/23 -
13-32972884-A-G BRCA2 c.10234A>G p.Ile3412Val Missense 27/27 -
17-41245021-T-C BRCA1 c.2527A>G p.Thr843Ala Missense 10/23 -
13-32906859-A-G BRCA2 c.1244A>G p.His415Arg Missense 10/27 -
13-32911841-A-G BRCA2 c.3349A>G p.Ile1117Val Missense 11/27 -
11-108098524-C-T ATM c.94C>T p.Arg32Cys Missense 3/63 -
17-41226540-T-A BRCA1 c.4485-2A>T - IntronicSNV - 13/22
13-32900639-C-T BRCA2 c.520C>T p.Arg174Cys Missense 7/27 -
13-32912737-G-A BRCA2 c.4245G>A p.Glu1415Glu Synonymous 11/27 -
16-68835623-G-C CDH1 c.214G>C p.Asp72His Missense 3/16 -
16-68835623-G-A CDH1 c.214G>A p.Asp72Asn Missense 3/16 -
11-108196142-A-G ATM c.6678A>G p.Leu2226Leu Synonymous 46/63 -
13-32937526-G-A BRCA2 c.8187G>A p.Lys2729Lys Synonymous 18/27 -
11-108122704-A-C ATM c.1748A>C p.Tyr583Ser Missense 11/63 -
13-32937438-T-C BRCA2 c.8099T>C p.Ile2700Thr Missense 18/27 -
13-32913027-G-A BRCA2 c.4535G>A p.Arg1512His Missense 11/27 -
13-32912402-A-G BRCA2 c.3910A>G p.Thr1304Ala Missense 11/27 -
11-108122704-A-T ATM c.1748A>T p.Tyr583Phe Missense 11/63 -
13-32929423-T-TT BRCA2 c.7433_7433dup - SpliceDonorInsertion 14/27 -
13-32906673-C-A BRCA2 c.1058C>A p.Ser353* Nonsense 10/27 -
22-29121000-T-A CHEK2 c.686A>T p.Asn229Ile Missense 5/16 -
17-29679351-G-A NF1 c.7471G>A p.Gly2491Ser Missense 50/57 -
13-32900252-A-G BRCA2 c.440A>G p.Gln147Arg Missense 5/27 -
16-68842700-A-G CDH1 c.636A>G p.Gly212Gly Synonymous 5/16 -
17-41201179-C-G BRCA1 c.5365G>C p.Ala1789Pro Missense 21/23 -
17-41201179-C-A BRCA1 c.5365G>T p.Ala1789Ser Missense 21/23 -
11-108123629-G-A ATM c.1888G>A p.Val630Met Missense 12/63 -
11-108206607-A-G ATM c.8187A>G p.Gln2729Gln Synonymous 56/63 -
22-29121000-T-G CHEK2 c.686A>C p.Asn229Thr Missense 5/16 -
13-32900252-A-T BRCA2 c.440A>T p.Gln147Leu Missense 5/27 -
11-108123628-C-T ATM c.1887C>T p.Ser629Ser Synonymous 12/63 -
17-41201179-C-T BRCA1 c.5365G>A p.Ala1789Thr Missense 21/23 -
19-1223126-G-A STK11 c.1063G>A p.Asp355Asn Missense 8/10 -
16-68867258-T-C CDH1 c.2505T>C p.Tyr835Tyr Synonymous 16/16 -
13-32915263-C-G BRCA2 c.6771C>G p.Pro2257Pro Synonymous 11/27 -
11-108186743-G-A ATM c.6101G>A p.Arg2034Gln Missense 42/63 -
13-32906673-C-G BRCA2 c.1058C>G p.Ser353* Nonsense 10/27 -
11-108198440-G-A ATM c.7044G>A p.Thr2348Thr Synonymous 48/63 -
11-108236132-G-T ATM c.9068G>T p.Gly3023Val Missense 63/63 -
17-29576014-A-G NF1 c.3987A>G p.Ser1329Ser Synonymous 30/57 -
13-32914245-A-G BRCA2 c.5753A>G p.His1918Arg Missense 11/27 -
13-32930609-C-T BRCA2 c.7480C>T p.Arg2494* Nonsense 15/27 -
11-108202221-A-T ATM c.7566A>T p.Gln2522His Missense 51/63 -
13-32930609-C-A BRCA2 c.7480C>A p.Arg2494Arg Synonymous 15/27 -
19-1223090-G-A STK11 c.1027G>A p.Asp343Asn Missense 8/10 -
11-108121562-G-A ATM c.1370G>A p.Arg457Gln Missense 10/63 -
17-41243886-T-G BRCA1 c.3662A>C p.Glu1221Ala Missense 10/23 -
11-108172386-G-A ATM c.5189G>A p.Arg1730Gln Missense 35/63 -
11-108141831-C-T ATM c.2879C>T p.Pro960Leu Missense 19/63 -
11-108141831-C-A ATM c.2879C>A p.Pro960His Missense 19/63 -
17-7574029-C-T TP53 c.998G>A p.Arg333His Missense 10/11 -
11-108172386-G-T ATM c.5189G>T p.Arg1730Leu Missense 35/63 -
13-32968951-C-T BRCA2 c.9382C>T p.Arg3128* Nonsense 25/27 -
19-1223150-A-G STK11 c.1087A>G p.Thr363Ala Missense 8/10 -
16-23641057-C-T PALB2 c.2418G>A p.Pro806Pro Synonymous 5/13 -
22-29130651-T-C CHEK2 c.59A>G p.Gln20Arg Missense 2/16 -
17-7578244-C-T TP53 c.605G>A p.Arg202His Missense 6/11 -
17-29490282-A-G NF1 c.367A>G p.Thr123Ala Missense 4/57 -
17-29679367-G-C NF1 c.7487G>C p.Arg2496Pro Missense 50/57 -
17-29679367-G-A NF1 c.7487G>A p.Arg2496Gln Missense 50/57 -
13-32915315-G-A BRCA2 c.6823G>A p.Glu2275Lys Missense 11/27 -
13-32913920-G-A BRCA2 c.5428G>A p.Val1810Ile Missense 11/27 -
17-29483121-A-G NF1 c.181A>G p.Ile61Val Missense 2/57 -
17-29663850-G-A NF1 c.6282G>A p.Pro2094Pro Synonymous 41/57 -
22-29130426-C-A CHEK2 c.284G>T p.Arg95Leu Missense 2/16 -
10-89711995-A-G PTEN c.613A>G p.Met205Val Missense 6/9 -
16-68849662-C-T CDH1 c.1565C>T p.Thr522Ile Missense 10/16 -
17-29657368-C-T NF1 c.5601C>T p.Ile1867Ile Synonymous 38/57 -
11-108201100-C-T ATM c.7467C>T p.Ser2489Ser Synonymous 50/63 -
11-108186756-C-G ATM c.6114C>G p.His2038Gln Missense 42/63 -
11-108186756-C-A ATM c.6114C>A p.His2038Gln Missense 42/63 -
10-89711873-A-C PTEN c.493-2A>C - IntronicSNV - 5/8
10-89711873-A-T PTEN c.493-2A>T - IntronicSNV - 5/8
13-32893435-G-T BRCA2 c.289G>T p.Glu97* Nonsense 3/27 -
17-41256190-G-T BRCA1 c.390C>A p.Tyr130* Nonsense 6/23 -
17-41256190-G-C BRCA1 c.390C>G p.Tyr130* Nonsense 6/23 -
17-41256190-G-A BRCA1 c.390C>T p.Tyr130Tyr Synonymous 6/23 -
17-7579473-G-A TP53 c.214C>T p.Pro72Ser Missense 4/11 -
17-7579473-G-C TP53 c.214C>G p.Pro72Ala Missense 4/11 -
17-41246512-G-C BRCA1 c.1036C>G p.Pro346Ala Missense 10/23 -
17-7579473-G-T TP53 c.214C>A p.Pro72Thr Missense 4/11 -
13-32972853-G-A BRCA2 c.10203G>A p.Thr3401Thr Synonymous 27/27 -
11-108192097-C-T ATM c.6522C>T p.Ser2174Ser Synonymous 45/63 -
17-41197775-C-A BRCA1 c.5512G>T p.Val1838Leu Missense 23/23 -
17-41197775-C-T BRCA1 c.5512G>A p.Val1838Met Missense 23/23 -
16-68853202-A-G CDH1 c.1585A>G p.Thr529Ala Missense 11/16 -
17-7579558-C-G TP53 c.129G>C p.Leu43Phe Missense 4/11 -
19-1226588-G-C STK11 c.1244G>C p.Arg415Pro Missense 9/10 -
19-1226588-G-A STK11 c.1244G>A p.Arg415His Missense 9/10 -
17-41256182-C-T BRCA1 c.398G>A p.Arg133His Missense 6/23 -
13-32914127-G-A BRCA2 c.5635G>A p.Glu1879Lys Missense 11/27 -
11-108188136-G-A ATM c.6235G>A p.Val2079Ile Missense 43/63 -
11-108126976-G-A ATM c.2159G>A p.Arg720His Missense 14/63 -
13-32907054-G-A BRCA2 c.1439G>A p.Cys480Tyr Missense 10/27 -
16-68847302-G-A CDH1 c.1224G>A p.Ala408Ala Synonymous 9/16 -
13-32937362-A-G BRCA2 c.8023A>G p.Ile2675Val Missense 18/27 -
16-68847302-G-T CDH1 c.1224G>T p.Ala408Ala Synonymous 9/16 -
17-41223133-A-G BRCA1 c.4798T>C p.Leu1600Leu Synonymous 15/23 -
13-32914127-G-T BRCA2 c.5635G>T p.Glu1879* Nonsense 11/27 -
19-1207037-G-T STK11 c.125G>T p.Arg42Leu Missense 1/10 -
16-23641408-C-T PALB2 c.2067G>A p.Ser689Ser Synonymous 5/13 -
16-23641408-C-A PALB2 c.2067G>T p.Ser689Ser Synonymous 5/13 -
17-41244935-C-A BRCA1 c.2613G>T p.Pro871Pro Synonymous 10/23 -
19-1219347-G-T STK11 c.399G>T p.Val133Val Synonymous 3/10 -
17-29557278-G-A NF1 c.2991G>A p.Arg997Arg Synonymous 23/57 -
11-108117809-C-A ATM c.1020C>A p.Ala340Ala Synonymous 8/63 -
11-108098424-G-A ATM c.72+1G>A - IntronicSNV - 2/62
17-41244935-C-T BRCA1 c.2613G>A p.Pro871Pro Synonymous 10/23 -
13-32899248-C-T BRCA2 c.352C>T p.Arg118Cys Missense 4/27 -
17-41231356-A-G BRCA1 c.4358-2725T>C - IntronicSNV - 12/22
13-32914007-G-A BRCA2 c.5515G>A p.Val1839Ile Missense 11/27 -
17-29552151-C-T NF1 c.1884C>T p.Tyr628Tyr Synonymous 17/57 -
11-108098424-G-T ATM c.72+1G>T - IntronicSNV - 2/62
17-41243501-C-A BRCA1 c.4047G>T p.Thr1349Thr Synonymous 10/23 -
13-32913870-A-G BRCA2 c.5378A>G p.Asn1793Ser Missense 11/27 -
17-41244612-C-T BRCA1 c.2936G>A p.Arg979His Missense 10/23 -
16-68867356-G-A CDH1 c.2603G>A p.Arg868His Missense 16/16 -
11-108127037-A-G ATM c.2220A>G p.Ala740Ala Synonymous 14/63 -
11-108224608-G-A ATM c.8786+1G>A - IntronicSNV - 60/62
11-108224608-G-C ATM c.8786+1G>C - IntronicSNV - 60/62
13-32912475-G-C BRCA2 c.3983G>C p.Ser1328Thr Missense 11/27 -
13-32912475-G-A BRCA2 c.3983G>A p.Ser1328Asn Missense 11/27 -
16-23646594-C-T PALB2 c.1273G>A p.Val425Met Missense 4/13 -
11-108170523-T-C ATM c.5088T>C p.Tyr1696Tyr Synonymous 34/63 -
19-1207037-G-A STK11 c.125G>A p.Arg42Gln Missense 1/10 -
11-108142115-C-A ATM c.3059C>A p.Thr1020Lys Missense 20/63 -
17-29562787-C-T NF1 c.3867C>T p.Phe1289Phe Synonymous 28/57 -
13-32893253-C-A BRCA2 c.107C>A p.Ser36Tyr Missense 3/27 -
11-108106476-C-T ATM c.411C>T p.Tyr137Tyr Synonymous 5/63 -
11-108224608-G-T ATM c.8786+1G>T - IntronicSNV - 60/62
16-68844102-C-T CDH1 c.690C>T p.Leu230Leu Synonymous 6/16 -
16-68844102-C-G CDH1 c.690C>G p.Leu230Leu Synonymous 6/16 -
13-32972525-C-A BRCA2 c.9875C>A p.Pro3292Gln Missense 27/27 -
10-89720772-G-A PTEN c.923G>A p.Arg308His Missense 8/9 -
22-29121232-CC-C CHEK2 c.573+1delG - IntronicDeletion 4/16 -
19-1223108-G-A STK11 c.1045G>A p.Glu349Lys Missense 8/10 -
13-32911603-A-G BRCA2 c.3111A>G p.Gln1037Gln Synonymous 11/27 -
11-108137925-C-G ATM c.2494C>G p.Arg832Gly Missense 17/63 -
16-68867391-G-A CDH1 c.2638G>A p.Glu880Lys Missense 16/16 -
11-108139269-G-A ATM c.2771G>A p.Arg924Gln Missense 18/63 -
11-108121562-G-T ATM c.1370G>T p.Arg457Leu Missense 10/63 -
11-108172385-C-G ATM c.5188C>G p.Arg1730Gly Missense 35/63 -
16-23637698-G-T PALB2 c.2607C>A p.Ser869Ser Synonymous 7/13 -
17-29562787-C-G NF1 c.3867C>G p.Phe1289Leu Missense 28/57 -
16-68855985-G-A CDH1 c.1793G>A p.Arg598Gln Missense 12/16 -
17-41203102-C-T BRCA1 c.5310G>A p.Gly1770Gly Synonymous 20/23 -
17-41203102-C-G BRCA1 c.5310G>C p.Gly1770Gly Synonymous 20/23 -
17-41244405-C-G BRCA1 c.3143G>C p.Gly1048Ala Missense 10/23 -
17-41245236-A-G BRCA1 c.2312T>C p.Leu771Ser Missense 10/23 -
17-41244405-C-A BRCA1 c.3143G>T p.Gly1048Val Missense 10/23 -
11-108186563-A-G ATM c.6020A>G p.Glu2007Gly Missense 41/63 -
11-108186563-A-C ATM c.6020A>C p.Glu2007Ala Missense 41/63 -
17-41245618-A-T BRCA1 c.1930T>A p.Cys644Ser Missense 10/23 -
17-29677303-C-T NF1 c.7361C>T p.Thr2454Ile Missense 49/57 -
17-29528456-A-G NF1 c.1213A>G p.Thr405Ala Missense 11/57 -
10-89692880-A-G PTEN c.364A>G p.Ile122Val Missense 5/9 -
22-29083955-C-T CHEK2 c.1691G>A p.Arg564Gln Missense 16/16 -
17-29483074-A-G NF1 c.134A>G p.Asn45Ser Missense 2/57 -
17-41276094-C-T BRCA1 c.20G>A p.Arg7His Missense 2/23 -
17-29677202-T-G NF1 c.7260T>G p.Ala2420Ala Synonymous 49/57 -
13-32914461-A-C BRCA2 c.5969A>C p.Asp1990Ala Missense 11/27 -
17-41247917-G-C BRCA1 c.616C>G p.Gln206Glu Missense 9/23 -
11-108153473-C-T ATM c.3613C>T p.Arg1205Cys Missense 25/63 -
11-108192129-T-C ATM c.6554T>C p.Ile2185Thr Missense 45/63 -
13-32912687-T-C BRCA2 c.4195T>C p.Cys1399Arg Missense 11/27 -
17-41246305-C-A BRCA1 c.1243G>T p.Val415Phe Missense 10/23 -
17-41246305-C-T BRCA1 c.1243G>A p.Val415Ile Missense 10/23 -
16-68867204-G-A CDH1 c.2451G>A p.Ala817Ala Synonymous 16/16 -
17-29559778-G-A NF1 c.3375G>A p.Ala1125Ala Synonymous 26/57 -
17-29559778-G-T NF1 c.3375G>T p.Ala1125Ala Synonymous 26/57 -
17-7579470-C-T TP53 c.217G>A p.Val73Met Missense 4/11 -
11-108117809-C-T ATM c.1020C>T p.Ala340Ala Synonymous 8/63 -
17-7579366-G-T TP53 c.321C>A p.Tyr107* Nonsense 4/11 -
22-29130638-G-A CHEK2 c.72C>T p.Ser24Ser Synonymous 2/16 -
11-108139183-A-G ATM c.2685A>G p.Leu895Leu Synonymous 18/63 -
17-41243908-C-T BRCA1 c.3640G>A p.Glu1214Lys Missense 10/23 -
13-32905082-T-C BRCA2 c.708T>C p.His236His Synonymous 9/27 -
13-32899248-C-A BRCA2 c.352C>A p.Arg118Ser Missense 4/27 -
17-41219631-T-A BRCA1 c.5068A>T p.Lys1690* Nonsense 16/23 -
10-89685308-A-G PTEN c.203A>G p.Tyr68Cys Missense 3/9 -
13-32899279-A-G BRCA2 c.383A>G p.Asp128Gly Missense 4/27 -
17-41226540-T-C BRCA1 c.4485-2A>G - IntronicSNV - 13/22
13-32945130-G-A BRCA2 c.8525G>A p.Arg2842His Missense 20/27 -
17-7577121-G-C TP53 c.817C>G p.Arg273Gly Missense 8/11 -
22-29130458-T-C CHEK2 c.252A>G p.Glu84Glu Synonymous 2/16 -
17-7577121-G-T TP53 c.817C>A p.Arg273Ser Missense 8/11 -
17-29592288-C-T NF1 c.4703C>T p.Thr1568Met Missense 35/57 -
16-23641217-C-T PALB2 c.2258G>A p.Arg753Gln Missense 5/13 -
17-7576654-G-C TP53 c.993+199C>G - IntronicSNV - 9/10
13-32893271-A-G BRCA2 c.125A>G p.Tyr42Cys Missense 3/27 -
13-32906977-A-G BRCA2 c.1362A>G p.Lys454Lys Synonymous 10/27 -
13-32929401-A-G BRCA2 c.7411A>G p.Thr2471Ala Missense 14/27 -
17-41249283-C-T BRCA1 c.571G>A p.Val191Ile Missense 8/23 -
13-32929297-A-G BRCA2 c.7307A>G p.Asn2436Ser Missense 14/27 -
10-89717698-T-C PTEN c.723T>C p.Phe241Phe Synonymous 7/9 -
17-41247907-G-A BRCA1 c.626C>T p.Pro209Leu Missense 9/23 -
17-29657472-C-T NF1 c.5705C>T p.Thr1902Met Missense 38/57 -
11-108163487-C-T ATM c.4578C>T p.Pro1526Pro Synonymous 30/63 -
11-108192078-C-G ATM c.6503C>G p.Ser2168Trp Missense 45/63 -
11-108164101-C-T ATM c.4673C>T p.Thr1558Met Missense 31/63 -
16-23619278-C-T PALB2 c.3257G>A p.Arg1086Gln Missense 12/13 -
17-41246737-C-A BRCA1 c.811G>T p.Val271Leu Missense 10/23 -
13-32893361-A-G BRCA2 c.215A>G p.Asn72Ser Missense 3/27 -
13-32914068-ATTAA-A BRCA2 c.5576_5579delTTAA p.Ile1859Lysfs*3 Frameshift 11/27 -
13-32912150-T-C BRCA2 c.3658T>C p.Tyr1220His Missense 11/27 -
11-108192078-C-T ATM c.6503C>T p.Ser2168Leu Missense 45/63 -
17-7577548-C-G TP53 c.733G>C p.Gly245Arg Missense 7/11 -
17-41243573-C-T BRCA1 c.3975G>A p.Arg1325Arg Synonymous 10/23 -
11-108204681-A-C ATM c.7996A>C p.Thr2666Pro Missense 54/63 -
11-108204681-A-G ATM c.7996A>G p.Thr2666Ala Missense 54/63 -
17-41245201-T-C BRCA1 c.2347A>G p.Ile783Val Missense 10/23 -
16-68847374-C-T CDH1 c.1296C>T p.Asn432Asn Synonymous 9/16 -
17-41223048-A-G BRCA1 c.4883T>C p.Met1628Thr Missense 15/23 -
13-32968839-C-G BRCA2 c.9270C>G p.Phe3090Leu Missense 25/27 -
13-32968839-C-T BRCA2 c.9270C>T p.Phe3090Phe Synonymous 25/27 -
16-68862138-G-A CDH1 c.2226G>A p.Leu742Leu Synonymous 14/16 -
13-32911463-A-G BRCA2 c.2971A>G p.Asn991Asp Missense 11/27 -
22-29130427-G-C CHEK2 c.283C>G p.Arg95Gly Missense 2/16 -
22-29130427-G-A CHEK2 c.283C>T p.Arg95* Nonsense 2/16 -
13-32914206-A-T BRCA2 c.5714A>T p.His1905Leu Missense 11/27 -