Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
16-23646675-C-T | PALB2 | c.1192G>A | p.Val398Met | Missense | 4/13 | - |
13-32915230-A-G | BRCA2 | c.6738A>G | p.Pro2246Pro | Synonymous | 11/27 | - |
16-23641388-G-A | PALB2 | c.2087C>T | p.Thr696Met | Missense | 5/13 | - |
13-32930633-C-A | BRCA2 | c.7504C>A | p.Arg2502Ser | Missense | 15/27 | - |
11-108178641-C-T | ATM | c.5692C>T | p.Arg1898* | Nonsense | 38/63 | - |
17-29654784-C-T | NF1 | c.5473C>T | p.Arg1825Trp | Missense | 37/57 | - |
16-68862117-G-C | CDH1 | c.2205G>C | p.Ala735Ala | Synonymous | 14/16 | - |
22-29091225-C-T | CHEK2 | c.1394G>A | p.Ser465Asn | Missense | 13/16 | - |
13-32912008-G-T | BRCA2 | c.3516G>T | p.Ser1172Ser | Synonymous | 11/27 | - |
13-32912008-G-A | BRCA2 | c.3516G>A | p.Ser1172Ser | Synonymous | 11/27 | - |
13-32893412-C-A | BRCA2 | c.266C>A | p.Pro89Gln | Missense | 3/27 | - |
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-A | TP53 | c.141G>T | p.Pro47Pro | Synonymous | 4/11 | - |
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 | - |
17-41223119-T-C | BRCA1 | c.4812A>G | p.Gln1604Gln | Synonymous | 15/23 | - |
11-108121544-G-A | ATM | c.1352G>A | p.Arg451His | Missense | 10/63 | - |
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 | - |
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 | - |
17-7577139-G-A | TP53 | c.799C>T | p.Arg267Trp | Missense | 8/11 | - |
16-23619239-G-A | PALB2 | c.3296C>T | p.Thr1099Met | Missense | 12/13 | - |
19-1226569-C-T | STK11 | c.1225C>T | p.Arg409Trp | Missense | 9/10 | - |
13-32915263-C-G | BRCA2 | c.6771C>G | p.Pro2257Pro | Synonymous | 11/27 | - |
19-1226569-C-A | STK11 | c.1225C>A | p.Arg409Arg | Synonymous | 9/10 | - |
19-1226569-C-G | STK11 | c.1225C>G | p.Arg409Gly | Missense | 9/10 | - |
13-32915263-C-T | BRCA2 | c.6771C>T | p.Pro2257Pro | Synonymous | 11/27 | - |
11-108150232-C-T | ATM | c.3299C>T | p.Thr1100Met | Missense | 23/63 | - |
17-29683555-A-G | NF1 | c.7630A>G | p.Thr2544Ala | Missense | 51/57 | - |
11-108150232-C-G | ATM | c.3299C>G | p.Thr1100Arg | Missense | 23/63 | - |
13-32914152-C-G | BRCA2 | c.5660C>G | p.Thr1887Arg | Missense | 11/27 | - |
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 | - |
17-41246181-A-G | BRCA1 | c.1367T>C | p.Ile456Thr | Missense | 10/23 | - |
19-1223035-G-A | STK11 | c.972G>A | p.Pro324Pro | Synonymous | 8/10 | - |
16-23647146-T-C | PALB2 | c.721A>G | p.Asn241Asp | Missense | 4/13 | - |
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 | - |
17-29653162-G-T | NF1 | c.5097G>T | p.Glu1699Asp | Missense | 36/57 | - |
19-1220612-C-T | STK11 | c.630C>T | p.Cys210Cys | Synonymous | 5/10 | - |
17-29546043-C-G | NF1 | c.1548C>G | p.Pro516Pro | Synonymous | 14/57 | - |
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 | - |
17-41215948-G-A | BRCA1 | c.5095C>T | p.Arg1699Trp | Missense | 17/23 | - |
17-7578463-C-T | TP53 | c.467G>A | p.Arg156His | Missense | 5/11 | - |
13-32954181-G-A | BRCA2 | c.9155G>A | p.Arg3052Gln | Missense | 24/27 | - |
13-32954181-G-T | BRCA2 | c.9155G>T | p.Arg3052Leu | Missense | 24/27 | - |
13-32953632-C-A | BRCA2 | c.8933C>A | p.Ser2978* | Nonsense | 22/27 | - |
13-32972356-A-T | BRCA2 | c.9706A>T | p.Lys3236* | Nonsense | 27/27 | - |
13-32929040-C-T | BRCA2 | c.7050C>T | p.Thr2350Thr | Synonymous | 14/27 | - |
17-41215948-G-T | BRCA1 | c.5095C>A | p.Arg1699Arg | Synonymous | 17/23 | - |
17-41246191-C-G | BRCA1 | c.1357G>C | p.Glu453Gln | Missense | 10/23 | - |
11-108137925-C-T | ATM | c.2494C>T | p.Arg832Cys | Missense | 17/63 | - |
16-23646834-A-G | PALB2 | c.1033T>C | p.Leu345Leu | Synonymous | 4/13 | - |
17-29560213-G-T | NF1 | c.3690G>T | p.Val1230Val | Synonymous | 27/57 | - |
13-32893236-T-C | BRCA2 | c.90T>C | p.Asn30Asn | Synonymous | 3/27 | - |
13-32971139-G-C | BRCA2 | c.9606G>C | p.Pro3202Pro | Synonymous | 26/27 | - |
10-89692904-C-G | PTEN | c.388C>G | p.Arg130Gly | Missense | 5/9 | - |
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 | - |
13-32914174-C-T | BRCA2 | c.5682C>T | p.Tyr1894Tyr | Synonymous | 11/27 | - |
13-32914206-A-G | BRCA2 | c.5714A>G | p.His1905Arg | Missense | 11/27 | - |
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 | - |
17-41246737-C-A | BRCA1 | c.811G>T | 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 | - |
16-68847249-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-A | ATM | c.2578G>A | p.Asp860Asn | Missense | 17/63 | - |
13-32954041-A-G | BRCA2 | c.9108A>G | p.Gln3036Gln | Synonymous | 23/27 | - |
13-32911463-A-G | BRCA2 | c.2971A>G | p.Asn991Asp | Missense | 11/27 | - |
16-23649398-C-T | PALB2 | c.101G>A | p.Arg34His | Missense | 2/13 | - |
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-A | BRCA1 | c.5251C>T | p.Arg1751* | Nonsense | 19/23 | - |
13-32914174-C-G | BRCA2 | c.5682C>G | p.Tyr1894* | Nonsense | 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 | - |
19-1220597-G-A | STK11 | c.615G>A | p.Ala205Ala | Synonymous | 5/10 | - |
16-23640970-G-A | PALB2 | c.2505C>T | p.Ser835Ser | Synonymous | 5/13 | - |
13-32906480-A-C | BRCA2 | c.865A>C | p.Asn289His | Missense | 10/27 | - |
16-23641198-T-C | PALB2 | c.2277A>G | p.Gln759Gln | Synonymous | 5/13 | - |
11-108196142-A-G | ATM | c.6678A>G | p.Leu2226Leu | Synonymous | 46/63 | - |
11-108170498-T-C | ATM | c.5063T>C | p.Ile1688Thr | Missense | 34/63 | - |
17-29576036-C-T | NF1 | c.4009C>T | p.Arg1337Trp | Missense | 30/57 | - |
17-29667607-G-T | NF1 | c.6943G>T | p.Ala2315Ser | Missense | 46/57 | - |
13-32906480-A-G | BRCA2 | c.865A>G | p.Asn289Asp | Missense | 10/27 | - |
13-32930650-A-G | BRCA2 | c.7521A>G | p.Pro2507Pro | Synonymous | 15/27 | - |
17-41244465-C-A | BRCA1 | c.3083G>T | p.Arg1028Leu | Missense | 10/23 | - |
17-7579438-C-T | TP53 | c.249G>A | p.Ala83Ala | Synonymous | 4/11 | - |
17-41242961-C-T | BRCA1 | c.4185G>A | p.Gln1395Gln | Synonymous | 11/23 | - |
19-1223107-C-T | STK11 | c.1044C>T | p.Asp348Asp | Synonymous | 8/10 | - |
11-108126976-G-A | ATM | c.2159G>A | p.Arg720His | Missense | 14/63 | - |
17-7577120-C-G | TP53 | c.818G>C | p.Arg273Pro | Missense | 8/11 | - |
11-108216581-A-C | ATM | c.8530A>C | p.Ile2844Leu | Missense | 58/63 | - |
16-23647023-T-C | PALB2 | c.844A>G | p.Arg282Gly | Missense | 4/13 | - |
16-23637631-C-T | PALB2 | c.2674G>A | p.Glu892Lys | Missense | 7/13 | - |
11-108098555-A-G | ATM | c.125A>G | p.His42Arg | Missense | 3/63 | - |
16-23646813-C-G | PALB2 | c.1054G>C | p.Glu352Gln | Missense | 4/13 | - |
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 | - |
19-1223136-A-G | STK11 | c.1073A>G | p.Asp358Gly | Missense | 8/10 | - |
17-41246856-G-A | BRCA1 | c.692C>T | p.Thr231Met | Missense | 10/23 | - |
17-41267763-C-T | BRCA1 | c.114G>A | p.Lys38Lys | Synonymous | 3/23 | - |
17-41267763-C-A | BRCA1 | c.114G>T | p.Lys38Asn | Missense | 3/23 | - |
16-23619239-G-C | PALB2 | c.3296C>G | p.Thr1099Arg | Missense | 12/13 | - |
22-29095854-T-C | CHEK2 | c.1109A>G | p.Tyr370Cys | Missense | 10/16 | - |
17-7577548-C-A | TP53 | c.733G>T | p.Gly245Cys | Missense | 7/11 | - |
17-29684078-G-A | NF1 | c.7776G>A | p.Pro2592Pro | Synonymous | 52/57 | - |
13-32954009-C-G | BRCA2 | c.9076C>G | p.Gln3026Glu | Missense | 23/27 | - |
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 | - |
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 | - |
16-68847301-C-T | CDH1 | c.1223C>T | p.Ala408Val | Missense | 9/16 | - |
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-T | ATM | c.3257G>T | p.Arg1086Leu | Missense | 22/63 | - |
11-108143552-G-A | ATM | c.3257G>A | p.Arg1086His | Missense | 22/63 | - |
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 | - |
16-23647552-C-T | PALB2 | c.315G>A | p.Glu105Glu | Synonymous | 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 | - |
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 | - |
11-108206685-T-G | ATM | c.8265T>G | p.Tyr2755* | Nonsense | 56/63 | - |
13-32911297-ATAAA-A | BRCA2 | c.2805_2808delTAAA | p.Ala938Profs*21 | Frameshift | 11/27 | - |
17-7577555-G-C | TP53 | c.726C>G | p.Cys242Trp | Missense | 7/11 | - |
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 | - |
10-89653834-C-T | PTEN | c.132C>T | p.Gly44Gly | Synonymous | 2/9 | - |
13-32968840-G-A | BRCA2 | c.9271G>A | p.Val3091Ile | Missense | 25/27 | - |
10-89653834-C-A | PTEN | c.132C>A | p.Gly44Gly | Synonymous | 2/9 | - |
13-32912610-T-G | BRCA2 | c.4118T>G | p.Met1373Arg | Missense | 11/27 | - |
17-41246855-C-T | BRCA1 | c.693G>A | p.Thr231Thr | Synonymous | 10/23 | - |
17-41246855-C-A | BRCA1 | c.693G>T | p.Thr231Thr | Synonymous | 10/23 | - |
16-23646911-G-A | PALB2 | c.956C>T | p.Ser319Phe | Missense | 4/13 | - |
16-68867356-G-A | CDH1 | c.2603G>A | p.Arg868His | Missense | 16/16 | - |
16-68835779-C-T | CDH1 | c.370C>T | p.Arg124Cys | Missense | 3/16 | - |
13-32913987-C-A | BRCA2 | c.5495C>A | p.Ser1832Tyr | Missense | 11/27 | - |
17-29556385-A-T | NF1 | c.2752A>T | p.Lys918* | Nonsense | 21/57 | - |
17-29667606-C-G | NF1 | c.6942C>G | p.Thr2314Thr | Synonymous | 46/57 | - |
13-32937586-G-A | BRCA2 | c.8247G>A | p.Gln2749Gln | Synonymous | 18/27 | - |
17-29684292-A-G | NF1 | c.7812A>G | p.Thr2604Thr | Synonymous | 53/57 | - |
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 | - |
16-23647487-T-C | PALB2 | c.380A>G | p.His127Arg | Missense | 4/13 | - |
13-32912806-C-T | BRCA2 | c.4314C>T | p.Val1438Val | Synonymous | 11/27 | - |
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 | - |
17-29663377-A-G | NF1 | c.5970A>G | p.Leu1990Leu | Synonymous | 40/57 | - |
17-29667606-C-T | NF1 | c.6942C>T | p.Thr2314Thr | Synonymous | 46/57 | - |
13-32914245-A-G | BRCA2 | c.5753A>G | p.His1918Arg | Missense | 11/27 | - |
13-32911300-AACAA-A | BRCA2 | c.2808_2811delACAA | p.Ala938Profs*21 | Frameshift | 11/27 | - |
13-32893291-G-T | BRCA2 | c.145G>T | p.Glu49* | Nonsense | 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 | - |
16-68835594-G-A | CDH1 | c.185G>A | p.Gly62Asp | Missense | 3/16 | - |
16-68862193-G-A | CDH1 | c.2281G>A | p.Gly761Arg | Missense | 14/16 | - |
17-41247917-G-C | BRCA1 | c.616C>G | p.Gln206Glu | Missense | 9/23 | - |
17-41247917-G-A | BRCA1 | c.616C>T | p.Gln206* | Nonsense | 9/23 | - |
16-23637664-C-T | PALB2 | c.2641G>A | p.Gly881Ser | Missense | 7/13 | - |
17-29585450-C-A | NF1 | c.4199C>A | p.Pro1400Gln | Missense | 31/57 | - |
13-32912306-A-G | BRCA2 | c.3814A>G | p.Met1272Val | Missense | 11/27 | - |
17-29585450-C-T | NF1 | c.4199C>T | p.Pro1400Leu | Missense | 31/57 | - |
11-108138041-C-T | ATM | c.2610C>T | p.Asn870Asn | Synonymous | 17/63 | - |
11-108138041-C-G | ATM | c.2610C>G | p.Asn870Lys | Missense | 17/63 | - |
17-41234440-TTCT-TTCTTTCT | BRCA1 | c.4335_4338dup | p.Gln1447Argfs*16 | Frameshift | 12/23 | - |
16-68846092-T-C | CDH1 | c.1063T>C | p.Leu355Leu | Synonymous | 8/16 | - |
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 | - |
17-41245683-G-A | BRCA1 | c.1865C>T | p.Ala622Val | Missense | 10/23 | - |
22-29083956-G-A | CHEK2 | c.1690C>T | p.Arg564Trp | Missense | 16/16 | - |
22-29090054-G-A | CHEK2 | c.1556C>T | p.Thr519Met | Missense | 14/16 | - |
22-29090054-G-C | CHEK2 | c.1556C>G | p.Thr519Arg | Missense | 14/16 | - |
22-29092952-T-C | CHEK2 | c.1161A>G | p.Ile387Met | Missense | 11/16 | - |
17-41243899-A-G | BRCA1 | c.3649T>C | p.Ser1217Pro | Missense | 10/23 | - |
13-32910678-T-C | BRCA2 | c.2186T>C | p.Ile729Thr | Missense | 11/27 | - |
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 | - |
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 | - |
13-32954037-A-T | BRCA2 | c.9104A>T | p.Tyr3035Phe | Missense | 23/27 | - |
13-32954037-A-C | BRCA2 | c.9104A>C | p.Tyr3035Ser | Missense | 23/27 | - |
16-68867274-G-A | CDH1 | c.2521G>A | p.Glu841Lys | Missense | 16/16 | - |
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 | - |
11-108143542-C-T | ATM | c.3247C>T | p.His1083Tyr | Missense | 22/63 | - |
17-29546043-C-T | NF1 | c.1548C>T | p.Pro516Pro | Synonymous | 14/57 | - |
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 | - |
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-C | BRCA2 | c.1744A>C | p.Thr582Pro | Missense | 10/27 | - |
13-32907359-A-G | BRCA2 | c.1744A>G | p.Thr582Ala | Missense | 10/27 | - |
16-68845648-C-T | CDH1 | c.894C>T | p.Ala298Ala | Synonymous | 7/16 | - |
13-32944567-G-A | BRCA2 | c.8360G>A | p.Arg2787His | Missense | 19/27 | - |
13-32930687-C-T | BRCA2 | c.7558C>T | p.Arg2520* | Nonsense | 15/27 | - |
13-32913346-T-A | BRCA2 | c.4854T>A | p.Asp1618Glu | Missense | 11/27 | - |
16-68842668-G-A | CDH1 | c.604G>A | p.Val202Ile | Missense | 5/16 | - |
19-1223126-G-C | STK11 | c.1063G>C | p.Asp355His | Missense | 8/10 | - |
22-29107934-C-T | CHEK2 | c.884G>A | p.Ser295Asn | Missense | 7/16 | - |
17-7579882-C-G | TP53 | c.31G>C | p.Glu11Gln | Missense | 2/11 | - |
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 | - |
16-68842668-G-C | CDH1 | c.604G>C | p.Val202Leu | Missense | 5/16 | - |
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 | - |
11-108216597-G-A | ATM | c.8546G>A | p.Arg2849Gln | Missense | 58/63 | - |
13-32945109-C-G | BRCA2 | c.8504C>G | p.Ser2835* | Nonsense | 20/27 | - |
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 | - |
22-29090061-G-C | CHEK2 | c.1549C>G | p.Arg517Gly | Missense | 14/16 | - |
22-29090061-G-T | CHEK2 | c.1549C>A | p.Arg517Ser | Missense | 14/16 | - |
16-68863607-G-A | CDH1 | c.2346G>A | p.Val782Val | Synonymous | 15/16 | - |
11-108151787-G-A | ATM | c.3468G>A | p.Thr1156Thr | Synonymous | 24/63 | - |
16-68847374-C-G | CDH1 | c.1296C>G | p.Asn432Lys | Missense | 9/16 | - |
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-T | TP53 | c.460G>A | p.Gly154Ser | Missense | 5/11 | - |
22-29130426-C-T | CHEK2 | c.284G>A | p.Arg95Gln | Missense | 2/16 | - |
16-68842395-G-C | CDH1 | c.456G>C | p.Gln152His | Missense | 4/16 | - |
11-108236206-C-T | ATM | c.9142C>T | p.Leu3048Phe | Missense | 63/63 | - |
10-89717676-G-A | PTEN | c.701G>A | p.Arg234Gln | Missense | 7/9 | - |
17-41223118-A-C | BRCA1 | c.4813T>G | p.Leu1605Val | Missense | 15/23 | - |
17-41223118-A-G | BRCA1 | c.4813T>C | p.Leu1605Leu | Synonymous | 15/23 | - |
17-41223118-A-T | BRCA1 | c.4813T>A | p.Leu1605Met | Missense | 15/23 | - |
10-89717713-G-A | PTEN | c.738G>A | p.Pro246Pro | Synonymous | 7/9 | - |
17-41246724-C-T | BRCA1 | c.824G>A | p.Gly275Asp | Missense | 10/23 | - |
17-7578210-T-C | TP53 | c.639A>G | p.Arg213Arg | Synonymous | 6/11 | - |
17-7578210-T-A | TP53 | c.639A>T | p.Arg213Arg | Synonymous | 6/11 | - |
11-108137985-C-T | ATM | c.2554C>T | p.Gln852* | Nonsense | 17/63 | - |
13-32907428-A-AA | BRCA2 | c.1813dupA | p.Ile605Asnfs*11 | Frameshift | 10/27 | - |
11-108114792-C-T | ATM | c.609C>T | p.Asp203Asp | Synonymous | 6/63 | - |
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 | - |
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 | - |
13-32913077-G-A | BRCA2 | c.4585G>A | p.Gly1529Arg | Missense | 11/27 | - |
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 | - |
11-108175539-G-T | ATM | c.5634G>T | p.Ser1878Ser | Synonymous | 37/63 | - |
11-108175539-G-A | ATM | c.5634G>A | p.Ser1878Ser | Synonymous | 37/63 | - |
17-41245237-A-G | BRCA1 | c.2311T>C | p.Leu771Leu | Synonymous | 10/23 | - |
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 | - |
13-32903579-G-A | BRCA2 | c.632-1G>A | - | IntronicSNV | - | 7/26 |
17-41258531-G-A | BRCA1 | c.154C>T | p.Leu52Phe | Missense | 4/23 | - |
11-108159732-C-T | ATM | c.4138C>T | p.His1380Tyr | Missense | 28/63 | - |
22-29121241-C-G | CHEK2 | c.563G>C | p.Arg188Pro | Missense | 4/16 | - |
13-32954050-G-T | BRCA2 | c.9117G>T | p.Pro3039Pro | Synonymous | 23/27 | - |
13-32912402-A-G | BRCA2 | c.3910A>G | p.Thr1304Ala | Missense | 11/27 | - |
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 | - |
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 |
13-32953617-G-A | BRCA2 | c.8918G>A | p.Arg2973His | Missense | 22/27 | - |
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 | - |
17-41244004-G-A | BRCA1 | c.3544C>T | p.Gln1182* | Nonsense | 10/23 | - |
17-29652944-A-G | NF1 | c.4879A>G | p.Thr1627Ala | Missense | 36/57 | - |
16-23646194-A-C | PALB2 | c.1673T>G | p.Ile558Ser | Missense | 4/13 | - |
16-68842419-C-T | CDH1 | c.480C>T | p.Pro160Pro | Synonymous | 4/16 | - |
17-41246037-C-T | BRCA1 | c.1511G>A | p.Arg504His | Missense | 10/23 | - |
13-32913027-G-C | BRCA2 | c.4535G>C | p.Arg1512Pro | Missense | 11/27 | - |
13-32912395-T-C | BRCA2 | c.3903T>C | p.Thr1301Thr | Synonymous | 11/27 | - |
17-29559864-A-T | NF1 | c.3461A>T | p.Asn1154Ile | Missense | 26/57 | - |
11-108201015-G-C | ATM | c.7382G>C | p.Arg2461Pro | Missense | 50/63 | - |
11-108143287-T-C | ATM | c.3106T>C | p.Phe1036Leu | Missense | 21/63 | - |
11-108160359-T-A | ATM | c.4267T>A | p.Cys1423Ser | Missense | 29/63 | - |
13-32929042-C-T | BRCA2 | c.7052C>T | p.Ala2351Val | Missense | 14/27 | - |
13-32929042-C-G | BRCA2 | c.7052C>G | p.Ala2351Gly | Missense | 14/27 | - |
11-108124764-G-A | ATM | c.2122G>A | p.Glu708Lys | Missense | 13/63 | - |
13-32914592-C-T | BRCA2 | c.6100C>T | p.Arg2034Cys | Missense | 11/27 | - |
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 | - |
11-108123629-G-C | ATM | c.1888G>C | p.Val630Leu | Missense | 12/63 | - |
19-1221218-C-T | STK11 | c.741C>T | p.Asn247Asn | Synonymous | 6/10 | - |
16-23641409-G-T | PALB2 | c.2066C>A | p.Ser689* | Nonsense | 5/13 | - |
16-23641409-G-A | PALB2 | c.2066C>T | p.Ser689Leu | Missense | 5/13 | - |
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 | - |
13-32907183-A-T | BRCA2 | c.1568A>T | p.His523Leu | Missense | 10/27 | - |
13-32914592-C-A | BRCA2 | c.6100C>A | p.Arg2034Ser | Missense | 11/27 | - |
16-68855966-G-T | CDH1 | c.1774G>T | p.Ala592Ser | Missense | 12/16 | - |
16-68855966-G-A | CDH1 | c.1774G>A | p.Ala592Thr | Missense | 12/16 | - |
10-89720852-C-A | PTEN | c.1003C>A | p.Arg335Arg | Synonymous | 8/9 | - |
10-89720852-C-T | PTEN | c.1003C>T | p.Arg335* | Nonsense | 8/9 | - |
19-1223125-C-G | STK11 | c.1062C>G | p.Phe354Leu | Missense | 8/10 | - |
11-108186600-T-C | ATM | c.6057T>C | p.Tyr2019Tyr | Synonymous | 41/63 | - |
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 | - |
16-23647575-T-C | PALB2 | c.292A>G | p.Ile98Val | Missense | 4/13 | - |
13-32906833-C-T | BRCA2 | c.1218C>T | p.Ala406Ala | Synonymous | 10/27 | - |
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 | - |
19-1220466-G-C | STK11 | c.559G>C | p.Gly187Arg | Missense | 4/10 | - |
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 | - |
11-108121767-G-T | ATM | c.1575G>T | p.Lys525Asn | Missense | 10/63 | - |
11-108206651-A-C | ATM | c.8231A>C | p.Glu2744Ala | Missense | 56/63 | - |
13-32906847-T-C | BRCA2 | c.1232T>C | p.Ile411Thr | Missense | 10/27 | - |
17-29508775-G-A | NF1 | c.702G>A | p.Leu234Leu | Synonymous | 7/57 | - |
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 | - |
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 | - |
11-108173629-A-G | ATM | c.5369A>G | p.Asp1790Gly | Missense | 36/63 | - |
17-7578244-C-T | TP53 | c.605G>A | p.Arg202His | Missense | 6/11 | - |
17-41245932-G-T | BRCA1 | c.1616C>A | p.Thr539Lys | Missense | 10/23 | - |
17-41245932-G-A | BRCA1 | c.1616C>T | p.Thr539Met | Missense | 10/23 | - |
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 | - |
17-41251811-C-T | BRCA1 | c.528G>A | p.Thr176Thr | Synonymous | 7/23 | - |
17-29552241-C-A | NF1 | c.1974C>A | p.Leu658Leu | Synonymous | 17/57 | - |
17-29552241-C-T | NF1 | c.1974C>T | p.Leu658Leu | Synonymous | 17/57 | - |
11-108198458-G-A | ATM | c.7062G>A | p.Ala2354Ala | Synonymous | 48/63 | - |
13-32913662-A-G | BRCA2 | c.5170A>G | p.Ile1724Val | Missense | 11/27 | - |
11-108155132-G-A | ATM | c.3925G>A | p.Ala1309Thr | Missense | 26/63 | - |
11-108137934-G-T | ATM | c.2503G>T | p.Val835Leu | Missense | 17/63 | - |
17-41197784-G-A | BRCA1 | c.5503C>T | p.Arg1835* | Nonsense | 23/23 | - |
17-41215969-C-G | BRCA1 | c.5075-1G>C | - | IntronicSNV | - | 16/22 |
17-41215969-C-A | BRCA1 | c.5075-1G>T | - | IntronicSNV | - | 16/22 |
17-41215969-C-T | BRCA1 | c.5075-1G>A | - | IntronicSNV | - | 16/22 |
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 | - |
17-41244643-T-C | BRCA1 | c.2905A>G | p.Asn969Asp | Missense | 10/23 | - |
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 | - |
17-7576568-C-T | TP53 | c.993+285G>A | - | IntronicSNV | - | 9/10 |
22-29083950-G-T | CHEK2 | c.1696C>A | p.Arg566Ser | Missense | 16/16 | - |
22-29083950-G-A | CHEK2 | c.1696C>T | p.Arg566Cys | Missense | 16/16 | - |
22-29083950-G-C | CHEK2 | c.1696C>G | p.Arg566Gly | Missense | 16/16 | - |
11-108173629-A-T | ATM | c.5369A>T | p.Asp1790Val | Missense | 36/63 | - |
13-32913870-A-T | BRCA2 | c.5378A>T | p.Asn1793Ile | Missense | 11/27 | - |
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 | - |
17-29497004-G-A | NF1 | c.575G>A | p.Arg192Gln | Missense | 5/57 | - |
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 | - |
13-32972800-C-G | BRCA2 | c.10150C>G | p.Arg3384Gly | Missense | 27/27 | - |
17-7579441-C-T | TP53 | c.246G>A | p.Pro82Pro | Synonymous | 4/11 | - |
19-1226538-G-C | STK11 | c.1194G>C | p.Ala398Ala | Synonymous | 9/10 | - |
16-68867228-G-A | CDH1 | c.2475G>A | p.Pro825Pro | Synonymous | 16/16 | - |
22-29121015-C-T | CHEK2 | c.671G>A | p.Arg224His | Missense | 5/16 | - |
17-29663377-A-C | NF1 | c.5970A>C | p.Leu1990Leu | Synonymous | 40/57 | - |
17-29556369-A-G | NF1 | c.2736A>G | p.Gln912Gln | Synonymous | 21/57 | - |
11-108235879-C-T | ATM | c.8921C>T | p.Pro2974Leu | Missense | 62/63 | - |
17-41215389-C-T | BRCA1 | c.5154G>A | p.Trp1718* | Nonsense | 18/23 | - |
11-108206607-A-T | ATM | c.8187A>T | p.Gln2729His | Missense | 56/63 | - |
17-41244526-T-C | BRCA1 | c.3022A>G | p.Met1008Val | Missense | 10/23 | - |
17-41215389-C-A | BRCA1 | c.5154G>T | p.Trp1718Cys | Missense | 18/23 | - |
17-41244526-T-G | BRCA1 | c.3022A>C | p.Met1008Leu | Missense | 10/23 | - |
16-68867388-G-A | CDH1 | c.2635G>A | p.Gly879Ser | Missense | 16/16 | - |
16-68867388-G-C | CDH1 | c.2635G>C | p.Gly879Arg | Missense | 16/16 | - |
13-32911907-A-C | BRCA2 | c.3415A>C | p.Lys1139Gln | Missense | 11/27 | - |
11-108160424-G-A | ATM | c.4332G>A | p.Leu1444Leu | Synonymous | 29/63 | - |
11-108160424-G-C | ATM | c.4332G>C | p.Leu1444Leu | Synonymous | 29/63 | - |
13-32913091-A-C | BRCA2 | c.4599A>C | p.Lys1533Asn | Missense | 11/27 | - |
13-32907014-A-T | BRCA2 | c.1399A>T | p.Lys467* | Nonsense | 10/27 | - |
19-1220473-C-T | STK11 | c.566C>T | p.Thr189Ile | Missense | 4/10 | - |
11-108200961-G-A | ATM | c.7328G>A | p.Arg2443Gln | Missense | 50/63 | - |
13-32893420-C-T | BRCA2 | c.274C>T | p.Gln92* | Nonsense | 3/27 | - |
16-23619278-C-T | PALB2 | c.3257G>A | p.Arg1086Gln | Missense | 12/13 | - |
11-108203619-C-G | ATM | c.7919C>G | p.Thr2640Ser | Missense | 53/63 | - |
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 | - |
13-32906422-A-T | BRCA2 | c.807A>T | p.Thr269Thr | Synonymous | 10/27 | - |
13-32906673-C-T | BRCA2 | c.1058C>T | p.Ser353Leu | Missense | 10/27 | - |
17-29585451-G-T | NF1 | c.4200G>T | p.Pro1400Pro | Synonymous | 31/57 | - |
11-108099977-A-G | ATM | c.258A>G | p.Thr86Thr | Synonymous | 4/63 | - |
17-29548980-T-C | NF1 | c.1721+33T>C | - | IntronicSNV | - | 15/56 |
16-68862117-G-A | CDH1 | c.2205G>A | p.Ala735Ala | Synonymous | 14/16 | - |
19-1226534-C-T | STK11 | c.1190C>T | p.Ala397Val | Missense | 9/10 | - |
19-1226534-C-A | STK11 | c.1190C>A | p.Ala397Glu | Missense | 9/10 | - |
17-7574017-C-A | TP53 | c.1010G>T | p.Arg337Leu | Missense | 10/11 | - |
17-41203085-G-T | BRCA1 | c.5327C>A | p.Pro1776His | Missense | 20/23 | - |
17-29667656-A-G | NF1 | c.6992A>G | p.Asn2331Ser | Missense | 46/57 | - |
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 | - |
17-7573948-C-G | TP53 | c.1079G>C | p.Gly360Ala | Missense | 10/11 | - |
17-7573948-C-A | TP53 | c.1079G>T | p.Gly360Val | Missense | 10/11 | - |
16-68846047-A-T | CDH1 | c.1018A>T | p.Thr340Ser | Missense | 8/16 | - |
19-1223171-G-A | STK11 | c.1108G>A | p.Gly370Arg | Missense | 8/10 | - |
16-68835786-C-T | CDH1 | c.377C>T | p.Pro126Leu | Missense | 3/16 | - |
17-41246753-A-G | BRCA1 | c.795T>C | p.Ser265Ser | Synonymous | 10/23 | - |
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 | - |
19-1223080-G-A | STK11 | c.1017G>A | p.Pro339Pro | Synonymous | 8/10 | - |
17-29664860-G-A | NF1 | c.6603G>A | p.Thr2201Thr | Synonymous | 43/57 | - |
10-89692904-C-T | PTEN | c.388C>T | p.Arg130* | Nonsense | 5/9 | - |
17-41244796-T-TA | BRCA1 | c.2751_2752insT | p.Lys918*fs*1 | Nonsense | 10/23 | - |
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 | - |
17-41251831-G-A | BRCA1 | c.508C>T | p.Arg170Trp | Missense | 7/23 | - |
13-32893224-A-G | BRCA2 | c.78A>G | p.Pro26Pro | Synonymous | 3/27 | - |
19-1220705-T-C | STK11 | c.723T>C | p.Ala241Ala | Synonymous | 5/10 | - |
17-41234431-T-C | BRCA1 | c.4347A>G | p.Thr1449Thr | Synonymous | 12/23 | - |
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 | - |
10-89690827-C-A | PTEN | c.234C>A | p.Thr78Thr | Synonymous | 4/9 | - |
13-32968844-A-G | BRCA2 | c.9275A>G | p.Tyr3092Cys | Missense | 25/27 | - |
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 | - |
13-32972548-C-T | BRCA2 | c.9898C>T | p.Pro3300Ser | Missense | 27/27 | - |
13-32972548-C-A | BRCA2 | c.9898C>A | p.Pro3300Thr | Missense | 27/27 | - |
13-32968855-G-T | BRCA2 | c.9286G>T | p.Glu3096* | Nonsense | 25/27 | - |
13-32915129-T-C | BRCA2 | c.6637T>C | p.Ser2213Pro | Missense | 11/27 | - |
16-23614962-A-G | PALB2 | c.3379T>C | p.Cys1127Arg | Missense | 13/13 | - |
22-29092961-G-A | CHEK2 | c.1152C>T | p.Asn384Asn | Synonymous | 11/16 | - |
13-32968855-G-A | BRCA2 | c.9286G>A | p.Glu3096Lys | Missense | 25/27 | - |
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 | - |
17-29560087-A-G | NF1 | c.3564A>G | p.Gln1188Gln | Synonymous | 27/57 | - |
17-41249284-G-T | BRCA1 | c.570C>A | p.Thr190Thr | Synonymous | 8/23 | - |
11-108206576-G-T | ATM | c.8156G>T | p.Arg2719Leu | Missense | 56/63 | - |
17-29533389-G-A | NF1 | c.1392G>A | p.Pro464Pro | Synonymous | 12/57 | - |
16-23647514-A-G | PALB2 | c.353T>C | p.Ile118Thr | Missense | 4/13 | - |
11-108198458-G-C | ATM | c.7062G>C | p.Ala2354Ala | Synonymous | 48/63 | - |
17-41243988-C-G | BRCA1 | c.3560G>C | p.Ser1187Thr | Missense | 10/23 | - |
17-41243988-C-T | BRCA1 | c.3560G>A | p.Ser1187Asn | Missense | 10/23 | - |
17-29552200-A-G | NF1 | c.1933A>G | p.Met645Val | Missense | 17/57 | - |
13-32910982-C-G | BRCA2 | c.2490C>G | p.Asn830Lys | Missense | 11/27 | - |
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 | - |
16-68847239-C-A | CDH1 | c.1161C>A | p.Asn387Lys | Missense | 9/16 | - |
16-68867273-C-T | CDH1 | c.2520C>T | p.Ser840Ser | Synonymous | 16/16 | - |
13-32907259-G-A | BRCA2 | c.1644G>A | p.Gln548Gln | Synonymous | 10/27 | - |
11-108216545-C-T | ATM | c.8494C>T | p.Arg2832Cys | Missense | 58/63 | - |
16-68835787-G-T | CDH1 | c.378G>T | p.Pro126Pro | Synonymous | 3/16 | - |
16-68835787-G-A | CDH1 | c.378G>A | p.Pro126Pro | Synonymous | 3/16 | - |
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 | - |
17-29533389-G-T | NF1 | c.1392G>T | p.Pro464Pro | Synonymous | 12/57 | - |
17-41243015-G-T | BRCA1 | c.4131C>A | p.Ser1377Arg | Missense | 11/23 | - |
11-108205805-C-G | ATM | c.8120C>G | p.Ser2707Cys | Missense | 55/63 | - |
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 | - |
17-29654537-A-G | NF1 | c.5226A>G | p.Gln1742Gln | Synonymous | 37/57 | - |
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 | - |
13-32914137-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 | - |
17-41215947-C-G | BRCA1 | c.5096G>C | p.Arg1699Pro | Missense | 17/23 | - |
17-41243015-G-A | BRCA1 | c.4131C>T | p.Ser1377Ser | Synonymous | 11/23 | - |
13-32930634-G-T | BRCA2 | c.7505G>T | p.Arg2502Leu | Missense | 15/27 | - |
17-29556255-G-A | NF1 | c.2622G>A | p.Lys874Lys | Synonymous | 21/57 | - |
19-1220645-G-A | STK11 | c.663G>A | p.Pro221Pro | Synonymous | 5/10 | - |
13-32906980-A-G | BRCA2 | c.1365A>G | p.Ser455Ser | Synonymous | 10/27 | - |
17-7576655-G-A | TP53 | c.993+198C>T | - | IntronicSNV | - | 9/10 |
13-32911304-AGCAA-A | BRCA2 | c.2812_2815delGCAA | p.Ala938Profs*21 | Frameshift | 11/27 | - |
19-1221319-C-A | STK11 | c.842C>A | p.Pro281Gln | Missense | 6/10 | - |
19-1221319-C-G | STK11 | c.842C>G | p.Pro281Arg | 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 | - |
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 | - |
11-108126966-C-T | ATM | c.2149C>T | p.Arg717Trp | Missense | 14/63 | - |
17-41243696-G-A | BRCA1 | c.3852C>T | p.His1284His | Synonymous | 10/23 | - |
13-32914468-A-G | BRCA2 | c.5976A>G | p.Ser1992Ser | Synonymous | 11/27 | - |
16-68862130-C-T | CDH1 | c.2218C>T | p.Pro740Ser | Missense | 14/16 | - |
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 | - |
17-7579579-C-T | TP53 | c.108G>A | p.Pro36Pro | Synonymous | 4/11 | - |
13-32929232-A-G | BRCA2 | c.7242A>G | p.Ser2414Ser | Synonymous | 14/27 | - |
22-29091846-G-A | CHEK2 | c.1240C>T | p.His414Tyr | Missense | 12/16 | - |
17-29585418-C-G | NF1 | c.4167C>G | p.Phe1389Leu | Missense | 31/57 | - |
17-29585418-C-T | NF1 | c.4167C>T | p.Phe1389Phe | Synonymous | 31/57 | - |
13-32929232-A-T | BRCA2 | c.7242A>T | p.Ser2414Ser | Synonymous | 14/27 | - |
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 | - |
13-32954042-C-A | BRCA2 | c.9109C>A | p.Gln3037Lys | Missense | 23/27 | - |
16-23641146-C-T | PALB2 | c.2329G>A | p.Asp777Asn | Missense | 5/13 | - |
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 | - |
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 | - |
19-1221319-C-T | STK11 | c.842C>T | p.Pro281Leu | Missense | 6/10 | - |
11-108170543-T-C | ATM | c.5108T>C | p.Phe1703Ser | Missense | 34/63 | - |
16-23646410-T-A | PALB2 | c.1457A>T | p.Lys486Ile | Missense | 4/13 | - |
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 | - |
22-29121000-T-A | CHEK2 | c.686A>T | p.Asn229Ile | Missense | 5/16 | - |
17-29585395-G-T | NF1 | c.4144G>T | p.Gly1382Cys | Missense | 31/57 | - |
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 | - |
17-41215947-C-A | BRCA1 | c.5096G>T | p.Arg1699Leu | Missense | 17/23 | - |
13-32906579-A-C | BRCA2 | c.964A>C | p.Lys322Gln | Missense | 10/27 | - |
17-7579484-T-C | TP53 | c.203A>G | p.Glu68Gly | Missense | 4/11 | - |
22-29091781-C-T | CHEK2 | c.1305G>A | p.Ala435Ala | Synonymous | 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 | - |
17-41276070-A-G | BRCA1 | c.44T>C | p.Ile15Thr | Missense | 2/23 | - |
19-1226627-C-A | STK11 | c.1283C>A | p.Ser428* | Nonsense | 9/10 | - |
19-1226535-G-C | STK11 | c.1191G>C | p.Ala397Ala | Synonymous | 9/10 | - |
19-1226538-G-A | STK11 | c.1194G>A | p.Ala398Ala | Synonymous | 9/10 | - |
13-32953617-G-C | BRCA2 | c.8918G>C | p.Arg2973Pro | Missense | 22/27 | - |
17-29657368-C-T | NF1 | c.5601C>T | p.Ile1867Ile | Synonymous | 38/57 | - |
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 | - |
16-68847248-C-T | CDH1 | c.1170C>T | p.Asn390Asn | Synonymous | 9/16 | - |
13-32914521-T-G | BRCA2 | c.6029T>G | p.Val2010Gly | Missense | 11/27 | - |
13-32944627-C-A | BRCA2 | c.8420C>A | p.Ser2807* | Nonsense | 19/27 | - |
17-41215920-G-T | BRCA1 | c.5123C>A | p.Ala1708Glu | Missense | 17/23 | - |
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 | - |
13-32969018-C-T | BRCA2 | c.9449C>T | p.Pro3150Leu | Missense | 25/27 | - |
13-32972525-C-T | BRCA2 | c.9875C>T | p.Pro3292Leu | Missense | 27/27 | - |
16-23641520-C-T | PALB2 | c.1955G>A | p.Ser652Asn | Missense | 5/13 | - |
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 | - |
11-108153474-G-A | ATM | c.3614G>A | p.Arg1205His | Missense | 25/63 | - |
17-41244936-G-T | BRCA1 | c.2612C>A | p.Pro871Gln | Missense | 10/23 | - |
13-32910444-A-G | BRCA2 | c.1952A>G | p.Asp651Gly | Missense | 11/27 | - |
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 | - |
10-89711873-A-G | PTEN | c.493-2A>G | - | IntronicSNV | - | 5/8 |
17-7579885-C-T | TP53 | c.28G>A | p.Val10Ile | Missense | 2/11 | - |
13-32907262-G-A | BRCA2 | c.1647G>A | p.Lys549Lys | Synonymous | 10/27 | - |
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 | - |
16-68853296-C-T | CDH1 | c.1679C>T | p.Thr560Met | Missense | 11/16 | - |
16-23646192-G-A | PALB2 | c.1675C>T | p.Gln559* | Nonsense | 4/13 | - |
16-68853296-C-G | CDH1 | c.1679C>G | p.Thr560Arg | Missense | 11/16 | - |
11-108214071-T-C | ATM | c.8391T>C | p.Ser2797Ser | Synonymous | 57/63 | - |
17-41203135-C-T | BRCA1 | c.5278-1G>A | - | IntronicSNV | - | 19/22 |
17-41203135-C-A | BRCA1 | c.5278-1G>T | - | IntronicSNV | - | 19/22 |
17-41203135-C-G | BRCA1 | c.5278-1G>C | - | IntronicSNV | - | 19/22 |
16-23640969-C-A | PALB2 | c.2506G>T | p.Val836Phe | Missense | 5/13 | - |
16-23640966-C-G | PALB2 | c.2509G>C | p.Glu837Gln | Missense | 5/13 | - |
11-108206666-A-G | ATM | c.8246A>G | p.Lys2749Arg | Missense | 56/63 | - |
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 | - |
17-29684090-G-T | NF1 | c.7788G>T | p.Ala2596Ala | Synonymous | 52/57 | - |
16-23640969-C-G | PALB2 | c.2506G>C | p.Val836Leu | Missense | 5/13 | - |
11-108127004-C-T | ATM | c.2187C>T | p.Tyr729Tyr | Synonymous | 14/63 | - |
13-32915106-T-G | BRCA2 | c.6614T>G | p.Val2205Gly | Missense | 11/27 | - |
17-41244748-G-A | BRCA1 | c.2800C>T | p.Gln934* | Nonsense | 10/23 | - |
19-1220703-G-A | STK11 | c.721G>A | p.Ala241Thr | Missense | 5/10 | - |
11-108160457-T-A | ATM | c.4365T>A | p.Ser1455Arg | Missense | 29/63 | - |
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 | - |
10-89711995-A-G | PTEN | c.613A>G | p.Met205Val | Missense | 6/9 | - |
17-41244000-T-A | BRCA1 | c.3548A>T | p.Lys1183Ile | Missense | 10/23 | - |
13-32900706-G-A | BRCA2 | c.587G>A | p.Ser196Asn | Missense | 7/27 | - |
13-32900706-G-T | BRCA2 | c.587G>T | p.Ser196Ile | Missense | 7/27 | - |
17-7579542-C-T | TP53 | c.145G>A | p.Asp49Asn | Missense | 4/11 | - |
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-G | ATM | c.7313C>G | p.Thr2438Arg | Missense | 50/63 | - |
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 | - |
11-108155144-G-C | ATM | c.3937G>C | p.Glu1313Gln | Missense | 26/63 | - |
17-41249284-G-A | BRCA1 | c.570C>T | p.Thr190Thr | Synonymous | 8/23 | - |
11-108150302-A-G | ATM | c.3369A>G | p.Ala1123Ala | Synonymous | 23/63 | - |
17-7576655-G-T | TP53 | c.993+198C>A | - | IntronicSNV | - | 9/10 |
13-32929423-T-TT | BRCA2 | c.7433_7433dup | - | SpliceDonorInsertion | 14/27 | - |
17-41243841-T-C | BRCA1 | c.3707A>G | p.Asn1236Ser | Missense | 10/23 | - |
17-41244000-T-C | BRCA1 | c.3548A>G | p.Lys1183Arg | Missense | 10/23 | - |
16-68849662-C-A | CDH1 | c.1565C>A | p.Thr522Lys | Missense | 10/16 | - |
19-1226601-C-G | STK11 | c.1257C>G | p.Ser419Ser | Synonymous | 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 | - |
16-68849598-G-T | CDH1 | c.1501G>T | p.Val501Leu | Missense | 10/16 | - |
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 | - |
19-1220708-G-A | STK11 | c.726G>A | p.Gly242Gly | Synonymous | 5/10 | - |
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 | - |
17-29701060-C-A | NF1 | c.8344C>A | p.Pro2782Thr | Missense | 57/57 | - |
13-32914725-G-T | BRCA2 | c.6233G>T | p.Gly2078Val | Missense | 11/27 | - |
13-32914725-G-A | BRCA2 | c.6233G>A | p.Gly2078Glu | Missense | 11/27 | - |
13-32914200-T-C | BRCA2 | c.5708T>C | p.Ile1903Thr | Missense | 11/27 | - |
11-108121543-C-T | ATM | c.1351C>T | p.Arg451Cys | Missense | 10/63 | - |
17-29676161-A-G | NF1 | c.7150A>G | p.Ile2384Val | Missense | 48/57 | - |
16-68853202-A-C | CDH1 | c.1585A>C | p.Thr529Pro | Missense | 11/16 | - |
17-7579358-C-T | TP53 | c.329G>A | p.Arg110His | Missense | 4/11 | - |
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 | - |
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 | - |
19-1223055-G-A | STK11 | c.992G>A | p.Arg331Gln | Missense | 8/10 | - |
17-41222989-T-C | BRCA1 | c.4942A>G | p.Lys1648Glu | Missense | 15/23 | - |
16-68857445-G-A | CDH1 | c.2080G>A | p.Val694Ile | Missense | 13/16 | - |
17-29556180-A-C | NF1 | c.2547A>C | p.Gly849Gly | Synonymous | 21/57 | - |
13-32910718-A-G | BRCA2 | c.2226A>G | p.Gln742Gln | Synonymous | 11/27 | - |
11-108206576-G-A | ATM | c.8156G>A | p.Arg2719His | Missense | 56/63 | - |
13-32912687-T-C | BRCA2 | c.4195T>C | p.Cys1399Arg | Missense | 11/27 | - |
17-41245390-C-T | BRCA1 | c.2158G>A | p.Glu720Lys | Missense | 10/23 | - |
17-7579705-C-T | TP53 | c.91G>A | p.Val31Ile | Missense | 3/11 | - |
17-41245390-C-A | BRCA1 | c.2158G>T | p.Glu720* | Nonsense | 10/23 | - |
16-68862165-C-G | CDH1 | c.2253C>G | p.Asn751Lys | Missense | 14/16 | - |
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 | - |
13-32906957-C-A | BRCA2 | c.1342C>A | p.Arg448Ser | Missense | 10/27 | - |
13-32906957-C-T | BRCA2 | c.1342C>T | p.Arg448Cys | Missense | 10/27 | - |
13-32937504-C-A | BRCA2 | c.8165C>A | p.Thr2722Lys | Missense | 18/27 | - |
11-108183149-T-C | ATM | c.5930T>C | p.Phe1977Ser | Missense | 40/63 | - |
11-108164144-G-C | ATM | c.4716G>C | p.Lys1572Asn | Missense | 31/63 | - |
17-7579706-G-A | TP53 | c.90C>T | p.Asn30Asn | Synonymous | 3/11 | - |
16-23646645-A-G | PALB2 | c.1222T>C | p.Tyr408His | Missense | 4/13 | - |
13-32912868-A-G | BRCA2 | c.4376A>G | p.Asn1459Ser | Missense | 11/27 | - |
17-29490284-C-T | NF1 | c.369C>T | p.Thr123Thr | Synonymous | 4/57 | - |
10-89720749-C-T | PTEN | c.900C>T | p.Ile300Ile | Synonymous | 8/9 | - |
11-108121767-G-C | ATM | c.1575G>C | p.Lys525Asn | Missense | 10/63 | - |
13-32930633-C-T | BRCA2 | c.7504C>T | p.Arg2502Cys | Missense | 15/27 | - |
17-29559778-G-A | NF1 | c.3375G>A | p.Ala1125Ala | Synonymous | 26/57 | - |
17-7579366-G-T | TP53 | c.321C>A | p.Tyr107* | Nonsense | 4/11 | - |
16-68863641-G-A | CDH1 | c.2380G>A | p.Val794Ile | Missense | 15/16 | - |
17-7579366-G-A | TP53 | c.321C>T | p.Tyr107Tyr | Synonymous | 4/11 | - |
17-29546048-C-A | NF1 | c.1553C>A | p.Thr518Asn | Missense | 14/57 | - |
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 | - |
11-108201015-G-A | ATM | c.7382G>A | p.Arg2461His | Missense | 50/63 | - |
17-29546048-C-T | NF1 | c.1553C>T | p.Thr518Ile | Missense | 14/57 | - |
17-41222967-G-A | BRCA1 | c.4964C>T | p.Ser1655Phe | Missense | 15/23 | - |
13-32900670-T-C | BRCA2 | c.551T>C | p.Leu184Pro | Missense | 7/27 | - |
16-23646911-G-T | PALB2 | c.956C>A | p.Ser319Tyr | Missense | 4/13 | - |
13-32906648-A-G | BRCA2 | c.1033A>G | p.Lys345Glu | Missense | 10/27 | - |
11-108188234-T-C | ATM | c.6333T>C | p.His2111His | Synonymous | 43/63 | - |
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 | - |
13-32954037-A-G | BRCA2 | c.9104A>G | p.Tyr3035Cys | Missense | 23/27 | - |
11-108200991-G-C | ATM | c.7358G>C | p.Arg2453Pro | Missense | 50/63 | - |
17-41246156-G-A | BRCA1 | c.1392C>T | p.Thr464Thr | Synonymous | 10/23 | - |
13-32906859-A-G | BRCA2 | c.1244A>G | p.His415Arg | Missense | 10/27 | - |
11-108098524-C-T | ATM | c.94C>T | p.Arg32Cys | Missense | 3/63 | - |
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 | - |
17-41226540-T-A | BRCA1 | c.4485-2A>T | - | IntronicSNV | - | 13/22 |
22-29121000-T-G | CHEK2 | c.686A>C | p.Asn229Thr | Missense | 5/16 | - |
11-108122704-A-G | ATM | c.1748A>G | p.Tyr583Cys | Missense | 11/63 | - |
11-108122704-A-C | ATM | c.1748A>C | p.Tyr583Ser | Missense | 11/63 | - |
11-108122704-A-T | ATM | c.1748A>T | p.Tyr583Phe | Missense | 11/63 | - |
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 | - |
13-32937526-G-A | BRCA2 | c.8187G>A | p.Lys2729Lys | Synonymous | 18/27 | - |
13-32937526-G-T | BRCA2 | c.8187G>T | p.Lys2729Asn | Missense | 18/27 | - |
13-32937438-T-C | BRCA2 | c.8099T>C | p.Ile2700Thr | Missense | 18/27 | - |
13-32900252-A-G | BRCA2 | c.440A>G | p.Gln147Arg | Missense | 5/27 | - |
13-32900252-A-T | BRCA2 | c.440A>T | p.Gln147Leu | Missense | 5/27 | - |
17-41201179-C-A | BRCA1 | c.5365G>T | p.Ala1789Ser | Missense | 21/23 | - |
16-68842700-A-G | CDH1 | c.636A>G | p.Gly212Gly | Synonymous | 5/16 | - |
11-108123628-C-T | ATM | c.1887C>T | p.Ser629Ser | Synonymous | 12/63 | - |
11-108115589-A-G | ATM | c.737A>G | p.Asn246Ser | Missense | 7/63 | - |
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 | - |
11-108123629-G-A | ATM | c.1888G>A | p.Val630Met | Missense | 12/63 | - |
13-32906673-C-A | BRCA2 | c.1058C>A | p.Ser353* | Nonsense | 10/27 | - |
16-68867258-T-C | CDH1 | c.2505T>C | p.Tyr835Tyr | Synonymous | 16/16 | - |
17-41246597-T-C | BRCA1 | c.951A>G | p.Gln317Gln | Synonymous | 10/23 | - |
11-108206607-A-C | ATM | c.8187A>C | p.Gln2729His | Missense | 56/63 | - |
11-108206607-A-G | ATM | c.8187A>G | p.Gln2729Gln | Synonymous | 56/63 | - |
13-32906673-C-G | BRCA2 | c.1058C>G | p.Ser353* | Nonsense | 10/27 | - |
11-108202221-A-G | ATM | c.7566A>G | p.Gln2522Gln | Synonymous | 51/63 | - |
11-108236132-G-T | ATM | c.9068G>T | p.Gly3023Val | Missense | 63/63 | - |
11-108198440-G-A | ATM | c.7044G>A | p.Thr2348Thr | Synonymous | 48/63 | - |
17-29576014-A-G | NF1 | c.3987A>G | p.Ser1329Ser | Synonymous | 30/57 | - |
17-29686024-G-A | NF1 | c.8088G>A | p.Pro2696Pro | Synonymous | 55/57 | - |
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 | - |
11-108202221-A-T | ATM | c.7566A>T | p.Gln2522His | Missense | 51/63 | - |
13-32930609-C-T | BRCA2 | c.7480C>T | p.Arg2494* | Nonsense | 15/27 | - |
13-32930609-C-A | BRCA2 | c.7480C>A | p.Arg2494Arg | Synonymous | 15/27 | - |
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 | - |
19-1223090-G-A | STK11 | c.1027G>A | p.Asp343Asn | Missense | 8/10 | - |
11-108141831-C-T | ATM | c.2879C>T | p.Pro960Leu | Missense | 19/63 | - |
17-7574029-C-T | TP53 | c.998G>A | p.Arg333His | Missense | 10/11 | - |
11-108141831-C-A | ATM | c.2879C>A | p.Pro960His | Missense | 19/63 | - |
17-41256154-G-C | BRCA1 | c.426C>G | p.Pro142Pro | Synonymous | 6/23 | - |
17-41256154-G-A | BRCA1 | c.426C>T | p.Pro142Pro | Synonymous | 6/23 | - |
11-108172386-G-T | ATM | c.5189G>T | p.Arg1730Leu | Missense | 35/63 | - |
11-108172386-G-A | ATM | c.5189G>A | p.Arg1730Gln | Missense | 35/63 | - |
19-1223150-A-G | STK11 | c.1087A>G | p.Thr363Ala | Missense | 8/10 | - |
22-29130651-T-C | CHEK2 | c.59A>G | p.Gln20Arg | Missense | 2/16 | - |
17-7578372-A-G | TP53 | c.558T>C | p.Asp186Asp | Synonymous | 5/11 | - |
17-29679367-G-C | NF1 | c.7487G>C | p.Arg2496Pro | Missense | 50/57 | - |
11-108201100-C-T | ATM | c.7467C>T | p.Ser2489Ser | Synonymous | 50/63 | - |
17-29679367-G-A | NF1 | c.7487G>A | p.Arg2496Gln | Missense | 50/57 | - |
11-108186756-C-T | ATM | c.6114C>T | p.His2038His | Synonymous | 42/63 | - |
17-29663850-G-T | NF1 | c.6282G>T | p.Pro2094Pro | Synonymous | 41/57 | - |
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 | - |
13-32913920-G-A | BRCA2 | c.5428G>A | p.Val1810Ile | Missense | 11/27 | - |
10-89711873-A-C | PTEN | c.493-2A>C | - | IntronicSNV | - | 5/8 |
10-89711873-A-T | PTEN | c.493-2A>T | - | IntronicSNV | - | 5/8 |
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-G | CHEK2 | c.284G>C | p.Arg95Pro | Missense | 2/16 | - |
22-29130426-C-A | CHEK2 | c.284G>T | p.Arg95Leu | Missense | 2/16 | - |
11-108175550-G-A | ATM | c.5645G>A | p.Arg1882Gln | Missense | 37/63 | - |
11-108175550-G-C | ATM | c.5645G>C | p.Arg1882Pro | Missense | 37/63 | - |
13-32968951-C-T | BRCA2 | c.9382C>T | p.Arg3128* | Nonsense | 25/27 | - |
16-68849662-C-T | CDH1 | c.1565C>T | p.Thr522Ile | Missense | 10/16 | - |
13-32930634-G-A | BRCA2 | c.7505G>A | p.Arg2502His | Missense | 15/27 | - |
17-41256190-G-A | BRCA1 | c.390C>T | p.Tyr130Tyr | Synonymous | 6/23 | - |
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 | - |
13-32972853-G-C | BRCA2 | c.10203G>C | p.Thr3401Thr | Synonymous | 27/27 | - |
17-41256190-G-T | BRCA1 | c.390C>A | p.Tyr130* | Nonsense | 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 | - |
16-23646645-A-C | PALB2 | c.1222T>G | p.Tyr408Asp | Missense | 4/13 | - |
19-1226588-G-C | STK11 | c.1244G>C | p.Arg415Pro | Missense | 9/10 | - |
17-41246512-G-A | BRCA1 | c.1036C>T | p.Pro346Ser | Missense | 10/23 | - |
17-41246512-G-C | BRCA1 | c.1036C>G | p.Pro346Ala | Missense | 10/23 | - |
13-32907054-G-A | BRCA2 | c.1439G>A | p.Cys480Tyr | Missense | 10/27 | - |
19-1226588-G-A | STK11 | c.1244G>A | p.Arg415His | Missense | 9/10 | - |
16-68867204-G-A | CDH1 | c.2451G>A | p.Ala817Ala | Synonymous | 16/16 | - |
11-108192097-C-T | ATM | c.6522C>T | p.Ser2174Ser | Synonymous | 45/63 | - |
16-68847302-G-A | CDH1 | c.1224G>A | p.Ala408Ala | Synonymous | 9/16 | - |
17-41256182-C-T | BRCA1 | c.398G>A | p.Arg133His | Missense | 6/23 | - |
13-32937362-A-G | BRCA2 | c.8023A>G | p.Ile2675Val | Missense | 18/27 | - |
17-7579558-C-G | TP53 | c.129G>C | p.Leu43Phe | Missense | 4/11 | - |
16-68847302-G-T | CDH1 | c.1224G>T | p.Ala408Ala | Synonymous | 9/16 | - |
19-1207037-G-T | STK11 | c.125G>T | p.Arg42Leu | Missense | 1/10 | - |
13-32914127-G-T | BRCA2 | c.5635G>T | p.Glu1879* | Nonsense | 11/27 | - |
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 | - |
22-29121265-C-T | CHEK2 | c.539G>A | p.Arg180Gln | Missense | 4/16 | - |
11-108126944-T-G | ATM | c.2127T>G | p.Ile709Met | Missense | 14/63 | - |
11-108137925-C-A | ATM | c.2494C>A | p.Arg832Ser | Missense | 17/63 | - |
17-29557278-G-A | NF1 | c.2991G>A | p.Arg997Arg | Synonymous | 23/57 | - |
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 | - |
17-7578463-C-G | TP53 | c.467G>C | p.Arg156Pro | Missense | 5/11 | - |
17-41244935-C-A | BRCA1 | c.2613G>T | p.Pro871Pro | Synonymous | 10/23 | - |
17-41244935-C-T | BRCA1 | c.2613G>A | p.Pro871Pro | Synonymous | 10/23 | - |
13-32899248-C-A | BRCA2 | c.352C>A | p.Arg118Ser | Missense | 4/27 | - |
13-32899248-C-T | BRCA2 | c.352C>T | p.Arg118Cys | Missense | 4/27 | - |
13-32944627-C-T | BRCA2 | c.8420C>T | p.Ser2807Leu | Missense | 19/27 | - |
17-29592288-C-T | NF1 | c.4703C>T | p.Thr1568Met | Missense | 35/57 | - |
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 | - |
17-41243501-C-A | BRCA1 | c.4047G>T | p.Thr1349Thr | Synonymous | 10/23 | - |
11-108098424-G-A | ATM | c.72+1G>A | - | IntronicSNV | - | 2/62 |
11-108098424-G-T | ATM | c.72+1G>T | - | IntronicSNV | - | 2/62 |
16-23649273-G-C | PALB2 | c.109C>G | p.Arg37Gly | Missense | 3/13 | - |
16-23649273-G-T | PALB2 | c.109C>A | p.Arg37Ser | Missense | 3/13 | - |
17-29676201-C-T | NF1 | c.7190C>T | p.Thr2397Ile | Missense | 48/57 | - |
11-108126944-T-C | ATM | c.2127T>C | p.Ile709Ile | Synonymous | 14/63 | - |
17-41244612-C-T | BRCA1 | c.2936G>A | p.Arg979His | Missense | 10/23 | - |
11-108224608-G-A | ATM | c.8786+1G>A | - | IntronicSNV | - | 60/62 |
11-108224608-G-C | ATM | c.8786+1G>C | - | IntronicSNV | - | 60/62 |
11-108224608-G-T | ATM | c.8786+1G>T | - | IntronicSNV | - | 60/62 |
13-32913026-C-A | BRCA2 | c.4534C>A | p.Arg1512Ser | Missense | 11/27 | - |
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 | - |
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 | - |
13-32911603-A-G | BRCA2 | c.3111A>G | p.Gln1037Gln | Synonymous | 11/27 | - |
22-29121232-CC-C | CHEK2 | c.573+1delG | - | IntronicDeletion | 4/16 | - |
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 | - |
17-7574017-C-G | TP53 | c.1010G>C | p.Arg337Pro | Missense | 10/11 | - |
11-108121562-G-T | ATM | c.1370G>T | p.Arg457Leu | Missense | 10/63 | - |
11-108137925-C-G | ATM | c.2494C>G | p.Arg832Gly | Missense | 17/63 | - |
19-1207037-G-A | STK11 | c.125G>A | p.Arg42Gln | Missense | 1/10 | - |
13-32893361-A-G | BRCA2 | c.215A>G | p.Asn72Ser | Missense | 3/27 | - |
11-108139269-G-A | ATM | c.2771G>A | p.Arg924Gln | Missense | 18/63 | - |
11-108142115-C-A | ATM | c.3059C>A | p.Thr1020Lys | Missense | 20/63 | - |
17-41251834-G-A | BRCA1 | c.505C>T | p.Gln169* | Nonsense | 7/23 | - |
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-T | NF1 | c.3867C>T | p.Phe1289Phe | Synonymous | 28/57 | - |
16-68845757-C-G | CDH1 | c.1003C>G | p.Arg335Gly | Missense | 7/16 | - |
11-108143537-A-G | ATM | c.3242A>G | p.Asn1081Ser | Missense | 22/63 | - |
17-29562787-C-G | NF1 | c.3867C>G | p.Phe1289Leu | Missense | 28/57 | - |
17-41244405-C-A | BRCA1 | c.3143G>T | p.Gly1048Val | Missense | 10/23 | - |
11-108127037-A-G | ATM | c.2220A>G | p.Ala740Ala | Synonymous | 14/63 | - |
17-41203102-C-T | BRCA1 | c.5310G>A | p.Gly1770Gly | Synonymous | 20/23 | - |
13-32929297-A-T | BRCA2 | c.7307A>T | p.Asn2436Ile | Missense | 14/27 | - |
17-29654671-C-A | NF1 | c.5360C>A | p.Thr1787Lys | Missense | 37/57 | - |
17-41244405-C-T | BRCA1 | c.3143G>A | p.Gly1048Asp | Missense | 10/23 | - |
17-41246305-C-T | BRCA1 | c.1243G>A | p.Val415Ile | 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 | - |
17-29677303-C-T | NF1 | c.7361C>T | p.Thr2454Ile | Missense | 49/57 | - |
17-29528456-A-G | NF1 | c.1213A>G | p.Thr405Ala | Missense | 11/57 | - |
22-29083955-C-T | CHEK2 | c.1691G>A | p.Arg564Gln | Missense | 16/16 | - |
10-89692880-A-G | PTEN | c.364A>G | p.Ile122Val | Missense | 5/9 | - |
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 | - |
22-29130638-G-A | CHEK2 | c.72C>T | p.Ser24Ser | Synonymous | 2/16 | - |
11-108117809-C-T | ATM | c.1020C>T | p.Ala340Ala | Synonymous | 8/63 | - |
17-41276094-C-T | BRCA1 | c.20G>A | p.Arg7His | Missense | 2/23 | - |
11-108139183-A-G | ATM | c.2685A>G | p.Leu895Leu | Synonymous | 18/63 | - |
16-68772305-C-G | CDH1 | c.154C>G | p.Leu52Val | Missense | 2/16 | - |
13-32914461-A-C | BRCA2 | c.5969A>C | p.Asp1990Ala | Missense | 11/27 | - |
17-41245618-A-T | BRCA1 | c.1930T>A | p.Cys644Ser | Missense | 10/23 | - |
13-32910953-G-A | BRCA2 | c.2461G>A | p.Val821Ile | Missense | 11/27 | - |
16-23637632-G-C | PALB2 | c.2673C>G | p.Cys891Trp | Missense | 7/13 | - |
13-32905082-T-C | BRCA2 | c.708T>C | p.His236His | Synonymous | 9/27 | - |
17-41219631-T-A | BRCA1 | c.5068A>T | p.Lys1690* | Nonsense | 16/23 | - |
11-108153473-C-T | ATM | c.3613C>T | p.Arg1205Cys | Missense | 25/63 | - |
17-41256251-T-G | BRCA1 | c.329A>C | p.Lys110Thr | Missense | 6/23 | - |
16-68849520-G-A | CDH1 | c.1423G>A | p.Val475Met | Missense | 10/16 | - |
13-32899279-A-G | BRCA2 | c.383A>G | p.Asp128Gly | Missense | 4/27 | - |
13-32945130-G-A | BRCA2 | c.8525G>A | p.Arg2842His | Missense | 20/27 | - |
17-41226540-T-C | BRCA1 | c.4485-2A>G | - | IntronicSNV | - | 13/22 |
17-7576654-G-C | TP53 | c.993+199C>G | - | IntronicSNV | - | 9/10 |
16-23641217-C-T | PALB2 | c.2258G>A | p.Arg753Gln | Missense | 5/13 | - |
11-108117809-C-A | ATM | c.1020C>A | p.Ala340Ala | Synonymous | 8/63 | - |
22-29130458-T-C | CHEK2 | c.252A>G | p.Glu84Glu | Synonymous | 2/16 | - |
17-7577121-G-C | TP53 | c.817C>G | p.Arg273Gly | Missense | 8/11 | - |
17-7577121-G-T | TP53 | c.817C>A | p.Arg273Ser | Missense | 8/11 | - |
17-29552151-C-A | NF1 | c.1884C>A | p.Tyr628* | Nonsense | 17/57 | - |
13-32893271-A-G | BRCA2 | c.125A>G | p.Tyr42Cys | Missense | 3/27 | - |
13-32929401-A-G | BRCA2 | c.7411A>G | p.Thr2471Ala | Missense | 14/27 | - |
13-32929297-A-G | BRCA2 | c.7307A>G | p.Asn2436Ser | Missense | 14/27 | - |
13-32893361-A-T | BRCA2 | c.215A>T | p.Asn72Ile | Missense | 3/27 | - |
11-108151824-G-A | ATM | c.3505G>A | p.Glu1169Lys | Missense | 24/63 | - |
13-32914068-ATTAA-A | BRCA2 | c.5576_5579delTTAA | p.Ile1859Lysfs*3 | Frameshift | 11/27 | - |
17-41249283-C-T | BRCA1 | c.571G>A | p.Val191Ile | Missense | 8/23 | - |
17-41247907-G-A | BRCA1 | c.626C>T | p.Pro209Leu | Missense | 9/23 | - |
13-32912150-T-C | BRCA2 | c.3658T>C | p.Tyr1220His | Missense | 11/27 | - |
17-29657472-C-G | NF1 | c.5705C>G | p.Thr1902Arg | Missense | 38/57 | - |
17-29657472-C-T | NF1 | c.5705C>T | p.Thr1902Met | Missense | 38/57 | - |
17-41243573-C-T | BRCA1 | c.3975G>A | p.Arg1325Arg | Synonymous | 10/23 | - |
11-108224583-C-A | ATM | c.8762C>A | p.Thr2921Lys | Missense | 60/63 | - |
17-7577548-C-G | TP53 | c.733G>C | p.Gly245Arg | Missense | 7/11 | - |
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 | - |
11-108192078-C-T | ATM | c.6503C>T | p.Ser2168Leu | Missense | 45/63 | - |
11-108164101-C-T | ATM | c.4673C>T | p.Thr1558Met | Missense | 31/63 | - |
11-108204681-A-C | ATM | c.7996A>C | p.Thr2666Pro | Missense | 54/63 | - |
13-32906977-A-G | BRCA2 | c.1362A>G | p.Lys454Lys | Synonymous | 10/27 | - |
11-108204681-A-G | ATM | c.7996A>G | p.Thr2666Ala | Missense | 54/63 | - |
16-68847374-C-T | CDH1 | c.1296C>T | p.Asn432Asn | Synonymous | 9/16 | - |
16-68862138-G-A | CDH1 | c.2226G>A | p.Leu742Leu | Synonymous | 14/16 | - |
11-108138009-G-C | ATM | c.2578G>C | p.Asp860His | Missense | 17/63 | - |
13-32968954-C-T | BRCA2 | c.9385C>T | p.Pro3129Ser | Missense | 25/27 | - |
17-41245201-T-C | BRCA1 | c.2347A>G | p.Ile783Val | Missense | 10/23 | - |
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-A | BRCA2 | c.9270C>A | p.Phe3090Leu | Missense | 25/27 | - |
13-32968839-C-T | BRCA2 | c.9270C>T | p.Phe3090Phe | Synonymous | 25/27 | - |
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 | - |
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 | - |
17-41222975-C-T | BRCA1 | c.4956G>A | p.Met1652Ile | Missense | 15/23 | - |
19-1220703-G-T | STK11 | c.721G>T | p.Ala241Ser | Missense | 5/10 | - |
13-32912812-A-C | BRCA2 | c.4320A>C | p.Lys1440Asn | Missense | 11/27 | - |
13-32912812-A-G | BRCA2 | c.4320A>G | p.Lys1440Lys | Synonymous | 11/27 | - |
17-41243501-C-T | BRCA1 | c.4047G>A | p.Thr1349Thr | Synonymous | 10/23 | - |
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 | - |
11-108099994-A-C | ATM | c.275A>C | p.Lys92Thr | Missense | 4/63 | - |
17-29508775-G-T | NF1 | c.702G>T | p.Leu234Leu | Synonymous | 7/57 | - |
17-29586143-C-T | NF1 | c.4363C>T | p.Arg1455Cys | Missense | 32/57 | - |
17-41244100-G-A | BRCA1 | c.3448C>T | p.Pro1150Ser | Missense | 10/23 | - |
11-108192057-G-A | ATM | c.6482G>A | p.Arg2161His | Missense | 45/63 | - |
17-29701104-C-T | NF1 | c.8388C>T | p.Ser2796Ser | Synonymous | 57/57 | - |
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-C | BRCA1 | c.5251C>G | p.Arg1751Gly | Missense | 19/23 | - |
16-23647149-G-T | PALB2 | c.718C>A | p.Pro240Thr | Missense | 4/13 | - |
17-41209095-G-T | BRCA1 | c.5251C>A | p.Arg1751Arg | Synonymous | 19/23 | - |
16-23646488-T-C | PALB2 | c.1379A>G | p.Gln460Arg | Missense | 4/13 | - |
22-29083956-G-T | CHEK2 | c.1690C>A | p.Arg564Arg | Synonymous | 16/16 | - |
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-C | CHEK2 | c.1642T>G | p.Ser548Ala | Missense | 15/16 | - |
22-29085152-A-T | CHEK2 | c.1642T>A | p.Ser548Thr | Missense | 15/16 | - |
10-89685308-A-G | PTEN | c.203A>G | p.Tyr68Cys | Missense | 3/9 | - |
17-29559871-C-A | NF1 | c.3468C>A | p.Asn1156Lys | Missense | 26/57 | - |
17-7577538-C-G | TP53 | c.743G>C | p.Arg248Pro | Missense | 7/11 | - |
16-68844171-C-T | CDH1 | c.759C>T | p.Thr253Thr | Synonymous | 6/16 | - |
16-68844171-C-A | CDH1 | c.759C>A | p.Thr253Thr | Synonymous | 6/16 | - |
16-68844171-C-G | CDH1 | c.759C>G | p.Thr253Thr | Synonymous | 6/16 | - |
16-68835678-G-A | CDH1 | c.269G>A | p.Arg90Gln | Missense | 3/16 | - |
13-32912553-C-T | BRCA2 | c.4061C>T | p.Thr1354Met | Missense | 11/27 | - |
11-108141873-C-A | ATM | c.2921C>A | p.Ser974Tyr | Missense | 19/63 | - |
11-108141873-C-G | ATM | c.2921C>G | p.Ser974Cys | Missense | 19/63 | - |
11-108141873-C-T | ATM | c.2921C>T | p.Ser974Phe | Missense | 19/63 | - |
17-29556373-C-T | NF1 | c.2740C>T | p.Arg914Trp | Missense | 21/57 | - |
17-29585395-G-A | NF1 | c.4144G>A | p.Gly1382Ser | Missense | 31/57 | - |
22-29083956-G-C | CHEK2 | c.1690C>G | p.Arg564Gly | Missense | 16/16 | - |
17-41245466-G-A | BRCA1 | c.2082C>T | p.Ser694Ser | Synonymous | 10/23 | - |
17-41245236-A-G | BRCA1 | c.2312T>C | p.Leu771Ser | Missense | 10/23 | - |
17-41199659-C-T | BRCA1 | c.5467+1G>A | - | IntronicSNV | - | 22/22 |
17-41244435-T-C | BRCA1 | c.3113A>G | p.Glu1038Gly | Missense | 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 | - |
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 |
17-41258471-A-G | BRCA1 | c.212+2T>C | - | IntronicSNV | - | 4/22 |
17-41222996-C-G | BRCA1 | c.4935G>C | p.Arg1645Ser | Missense | 15/23 | - |
17-41201211-T-C | BRCA1 | c.5333A>G | p.Asp1778Gly | Missense | 21/23 | - |
17-7577091-G-C | TP53 | c.847C>G | p.Arg283Gly | Missense | 8/11 | - |
13-32971138-C-T | BRCA2 | c.9605C>T | p.Pro3202Leu | Missense | 26/27 | - |
13-32911438-A-G | BRCA2 | c.2946A>G | p.Ile982Met | Missense | 11/27 | - |
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 | - |
16-68847350-C-T | CDH1 | c.1272C>T | p.Val424Val | Synonymous | 9/16 | - |
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-C | CDH1 | c.1273G>C | p.Val425Leu | Missense | 9/16 | - |
17-29677247-A-T | NF1 | c.7305A>T | p.Lys2435Asn | Missense | 49/57 | - |
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 | - |
17-29585450-C-G | NF1 | c.4199C>G | p.Pro1400Arg | Missense | 31/57 | - |
13-32954246-C-T | BRCA2 | c.9220C>T | p.Leu3074Leu | Synonymous | 24/27 | - |
22-29095882-G-A | CHEK2 | c.1081C>T | p.Arg361Cys | Missense | 10/16 | - |
11-108142059-A-C | ATM | c.3003A>C | p.Leu1001Leu | Synonymous | 20/63 | - |
17-29661908-T-C | NF1 | c.5802T>C | p.Asn1934Asn | Synonymous | 39/57 | - |
16-68844102-C-G | CDH1 | c.690C>G | p.Leu230Leu | Synonymous | 6/16 | - |
11-108142059-A-G | ATM | c.3003A>G | p.Leu1001Leu | Synonymous | 20/63 | - |
19-1207176-C-T | STK11 | c.264C>T | p.Ile88Ile | Synonymous | 1/10 | - |
22-29121230-C-T | CHEK2 | c.573+1G>A | - | IntronicSNV | - | 4/15 |
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 |
11-108139302-C-G | ATM | c.2804C>G | p.Thr935Arg | Missense | 18/63 | - |
17-41256153-C-T | BRCA1 | c.427G>A | p.Glu143Lys | Missense | 6/23 | - |
17-41222989-T-G | BRCA1 | c.4942A>C | p.Lys1648Gln | Missense | 15/23 | - |
11-108123554-C-T | ATM | c.1813C>T | p.His605Tyr | Missense | 12/63 | - |
16-68867397-G-A | CDH1 | c.2644G>A | p.Asp882Asn | Missense | 16/16 | - |
13-32911907-A-G | BRCA2 | c.3415A>G | p.Lys1139Glu | Missense | 11/27 | - |
13-32937638-C-T | BRCA2 | c.8299C>T | p.Pro2767Ser | Missense | 18/27 | - |
13-32914477-C-T | BRCA2 | c.5985C>T | p.Asn1995Asn | Synonymous | 11/27 | - |
17-41245067-T-G | BRCA1 | c.2481A>C | p.Glu827Asp | Missense | 10/23 | - |
11-108192097-C-A | ATM | c.6522C>A | p.Ser2174Arg | Missense | 45/63 | - |
17-29684090-G-A | NF1 | c.7788G>A | p.Ala2596Ala | Synonymous | 52/57 | - |
17-29556923-A-G | NF1 | c.2921A>G | p.Asn974Ser | Missense | 22/57 | - |
17-41243908-C-A | BRCA1 | c.3640G>T | p.Glu1214* | Nonsense | 10/23 | - |
22-29092948-G-A | CHEK2 | c.1165C>T | p.Arg389Cys | Missense | 11/16 | - |
19-1223108-G-A | STK11 | c.1045G>A | p.Glu349Lys | Missense | 8/10 | - |
13-32913027-G-A | BRCA2 | c.4535G>A | p.Arg1512His | Missense | 11/27 | - |
22-29092948-G-T | CHEK2 | c.1165C>A | p.Arg389Ser | Missense | 11/16 | - |
13-32968954-C-G | BRCA2 | c.9385C>G | p.Pro3129Ala | Missense | 25/27 | - |
13-32920978-C-G | BRCA2 | c.6952C>G | p.Arg2318Gly | Missense | 13/27 | - |
13-32893422-A-G | BRCA2 | c.276A>G | p.Gln92Gln | Synonymous | 3/27 | - |
13-32913457-C-A | BRCA2 | c.4965C>A | p.Tyr1655* | Nonsense | 11/27 | - |
19-1220466-G-A | STK11 | c.559G>A | p.Gly187Ser | Missense | 4/10 | - |
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 | - |
16-68867391-G-A | CDH1 | c.2638G>A | p.Glu880Lys | Missense | 16/16 | - |
13-32915315-G-A | BRCA2 | c.6823G>A | p.Glu2275Lys | Missense | 11/27 | - |
13-32915264-G-A | BRCA2 | c.6772G>A | p.Glu2258Lys | Missense | 11/27 | - |
17-41246737-C-T | BRCA1 | c.811G>A | p.Val271Met | Missense | 10/23 | - |
17-29657433-C-G | NF1 | c.5666C>G | p.Ser1889Cys | Missense | 38/57 | - |
13-32953632-C-G | BRCA2 | c.8933C>G | p.Ser2978* | Nonsense | 22/27 | - |
11-108115728-G-A | ATM | c.876G>A | p.Pro292Pro | Synonymous | 7/63 | - |
16-23634405-G-T | PALB2 | c.2881C>A | p.Leu961Met | Missense | 9/13 | - |
13-32920978-C-T | BRCA2 | c.6952C>T | p.Arg2318* | Nonsense | 13/27 | - |
17-29546036-A-C | NF1 | c.1541A>C | p.Gln514Pro | Missense | 14/57 | - |
17-29546036-A-G | NF1 | c.1541A>G | p.Gln514Arg | Missense | 14/57 | - |
11-108142115-C-T | ATM | c.3059C>T | p.Thr1020Ile | Missense | 20/63 | - |
17-29588752-G-A | NF1 | c.4538G>A | p.Arg1513Gln | Missense | 34/57 | - |
16-23632742-C-A | PALB2 | c.3054G>T | p.Glu1018Asp | Missense | 10/13 | - |
16-23647133-G-A | PALB2 | c.734C>T | p.Ala245Val | Missense | 4/13 | - |
19-1220590-C-G | STK11 | c.608C>G | p.Pro203Arg | Missense | 5/10 | - |
16-23632742-C-G | PALB2 | c.3054G>C | p.Glu1018Asp | Missense | 10/13 | - |
16-23632742-C-T | PALB2 | c.3054G>A | p.Glu1018Glu | Synonymous | 10/13 | - |
16-23641186-C-G | PALB2 | c.2289G>C | p.Leu763Phe | Missense | 5/13 | - |
17-29557285-C-T | NF1 | c.2998C>T | p.Arg1000Cys | Missense | 23/57 | - |
16-23641057-C-T | PALB2 | c.2418G>A | p.Pro806Pro | Synonymous | 5/13 | - |
16-23641057-C-A | PALB2 | c.2418G>T | p.Pro806Pro | Synonymous | 5/13 | - |
13-32912671-G-A | BRCA2 | c.4179G>A | p.Ala1393Ala | Synonymous | 11/27 | - |
13-32929041-G-C | BRCA2 | c.7051G>C | p.Ala2351Pro | Missense | 14/27 | - |
13-32929041-G-T | BRCA2 | c.7051G>T | p.Ala2351Ser | Missense | 14/27 | - |
11-108164152-G-A | ATM | c.4724G>A | p.Arg1575His | Missense | 31/63 | - |
17-41242961-C-G | BRCA1 | c.4185G>C | p.Gln1395His | Missense | 11/23 | - |
16-68847351-G-A | CDH1 | c.1273G>A | p.Val425Ile | Missense | 9/16 | - |
16-23632772-G-A | PALB2 | c.3024C>T | p.Pro1008Pro | Synonymous | 10/13 | - |
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 | - |
19-1221961-C-T | STK11 | c.876C>T | p.Tyr292Tyr | Synonymous | 7/10 | - |
17-29559872-G-A | NF1 | c.3469G>A | p.Val1157Ile | Missense | 26/57 | - |
13-32911841-A-G | BRCA2 | c.3349A>G | p.Ile1117Val | Missense | 11/27 | - |
13-32913870-A-G | BRCA2 | c.5378A>G | p.Asn1793Ser | Missense | 11/27 | - |
16-23619228-C-T | PALB2 | c.3307G>A | p.Val1103Met | Missense | 12/13 | - |
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 | - |
17-7574012-C-A | TP53 | c.1015G>T | p.Glu339* | Nonsense | 10/11 | - |
16-68855985-G-A | CDH1 | c.1793G>A | p.Arg598Gln | Missense | 12/16 | - |
17-41244007-C-T | BRCA1 | c.3541G>A | p.Val1181Ile | Missense | 10/23 | - |
17-29508476-C-T | NF1 | c.623C>T | p.Ala208Val | Missense | 6/57 | - |
16-23637698-G-A | PALB2 | c.2607C>T | p.Ser869Ser | Synonymous | 7/13 | - |
13-32893412-C-T | BRCA2 | c.266C>T | p.Pro89Leu | Missense | 3/27 | - |
16-23619284-G-A | PALB2 | c.3251C>T | p.Ser1084Leu | Missense | 12/13 | - |
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 | - |
17-7578437-G-A | TP53 | c.493C>T | p.Gln165* | Nonsense | 5/11 | - |
16-68862090-G-A | CDH1 | c.2178G>A | p.Leu726Leu | Synonymous | 14/16 | - |
13-32914175-G-C | BRCA2 | c.5683G>C | p.Glu1895Gln | Missense | 11/27 | - |
16-68842610-A-G | CDH1 | c.546A>G | p.Lys182Lys | Synonymous | 5/16 | - |
16-68842610-A-C | CDH1 | c.546A>C | p.Lys182Asn | Missense | 5/16 | - |
17-7579886-G-A | TP53 | c.27C>T | p.Ser9Ser | Synonymous | 2/11 | - |
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 | - |
13-32913966-C-T | BRCA2 | c.5474C>T | p.Ala1825Val | Missense | 11/27 | - |
13-32900706-G-C | BRCA2 | c.587G>C | p.Ser196Thr | Missense | 7/27 | - |
17-29553485-G-C | NF1 | c.2034G>C | p.Pro678Pro | Synonymous | 18/57 | - |
13-32913070-A-G | BRCA2 | c.4578A>G | p.Thr1526Thr | Synonymous | 11/27 | - |
17-29587401-T-C | NF1 | c.4382T>C | p.Ile1461Thr | Missense | 33/57 | - |
11-108196240-C-G | ATM | c.6776C>G | p.Ser2259Cys | Missense | 46/63 | - |
19-1219380-G-A | STK11 | c.432G>A | p.Pro144Pro | Synonymous | 3/10 | - |
17-29587459-C-T | NF1 | c.4440C>T | p.Asp1480Asp | Synonymous | 33/57 | - |
17-29653162-G-C | NF1 | c.5097G>C | p.Glu1699Asp | Missense | 36/57 | - |
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 | - |
11-108153554-T-C | ATM | c.3694T>C | p.Ser1232Pro | Missense | 25/63 | - |
11-108173622-G-A | ATM | c.5362G>A | p.Gly1788Ser | Missense | 36/63 | - |
22-29085152-A-G | CHEK2 | c.1642T>C | p.Ser548Pro | Missense | 15/16 | - |
16-23647133-G-C | PALB2 | c.734C>G | p.Ala245Gly | Missense | 4/13 | - |
19-1226627-C-G | STK11 | c.1283C>G | p.Ser428Trp | Missense | 9/10 | - |
13-32929041-G-A | BRCA2 | c.7051G>A | p.Ala2351Thr | Missense | 14/27 | - |
22-29090043-C-T | CHEK2 | c.1567G>A | p.Ala523Thr | Missense | 14/16 | - |
17-41244982-A-G | BRCA1 | c.2566T>C | p.Tyr856His | Missense | 10/23 | - |
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 | - |
17-29553484-C-T | NF1 | c.2033C>T | p.Pro678Leu | Missense | 18/57 | - |
19-1222991-C-T | STK11 | c.928C>T | p.Arg310Trp | Missense | 8/10 | - |
13-32911748-A-G | BRCA2 | c.3256A>G | p.Ile1086Val | Missense | 11/27 | - |
17-29654819-C-A | NF1 | c.5508C>A | p.Ile1836Ile | Synonymous | 37/57 | - |
17-29657433-C-T | NF1 | c.5666C>T | p.Ser1889Phe | Missense | 38/57 | - |
22-29095854-T-A | CHEK2 | c.1109A>T | p.Tyr370Phe | Missense | 10/16 | - |
17-41223165-C-T | BRCA1 | c.4766G>A | p.Arg1589His | Missense | 15/23 | - |
17-41245669-C-T | BRCA1 | c.1879G>A | p.Val627Ile | Missense | 10/23 | - |
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-T | PALB2 | c.2257C>A | p.Arg753Arg | Synonymous | 5/13 | - |
22-29085174-A-G | CHEK2 | c.1620T>C | p.Asp540Asp | Synonymous | 15/16 | - |
17-7579542-C-G | TP53 | c.145G>C | p.Asp49His | Missense | 4/11 | - |
13-32911042-A-G | BRCA2 | c.2550A>G | p.Gln850Gln | Synonymous | 11/27 | - |
16-68846049-G-A | CDH1 | c.1020G>A | p.Thr340Thr | Synonymous | 8/16 | - |
16-68846049-G-T | CDH1 | c.1020G>T | p.Thr340Thr | Synonymous | 8/16 | - |
13-32911712-A-G | BRCA2 | c.3220A>G | p.Ser1074Gly | Missense | 11/27 | - |
16-68847301-C-G | CDH1 | c.1223C>G | p.Ala408Gly | Missense | 9/16 | - |
11-108106476-C-T | ATM | c.411C>T | p.Tyr137Tyr | Synonymous | 5/63 | - |
17-29684078-G-C | NF1 | c.7776G>C | p.Pro2592Pro | Synonymous | 52/57 | - |
13-32929011-C-G | BRCA2 | c.7021C>G | p.Arg2341Gly | Missense | 14/27 | - |
22-29121241-C-T | CHEK2 | c.563G>A | p.Arg188Gln | Missense | 4/16 | - |
11-108150266-T-G | ATM | c.3333T>G | p.Leu1111Leu | Synonymous | 23/63 | - |
17-41203102-C-G | BRCA1 | c.5310G>C | p.Gly1770Gly | Synonymous | 20/23 | - |
13-32906422-A-G | BRCA2 | c.807A>G | p.Thr269Thr | Synonymous | 10/27 | - |
13-32929127-A-G | BRCA2 | c.7137A>G | p.Gly2379Gly | Synonymous | 14/27 | - |
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 | - |
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 | - |
17-29654671-C-T | NF1 | c.5360C>T | p.Thr1787Met | Missense | 37/57 | - |
22-29092948-G-C | CHEK2 | c.1165C>G | p.Arg389Gly | Missense | 11/16 | - |
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 | - |
19-1207086-C-G | STK11 | c.174C>G | p.Gly58Gly | Synonymous | 1/10 | - |
17-7578540-G-T | TP53 | c.390C>A | p.Leu130Leu | Synonymous | 5/11 | - |
11-108216597-G-C | ATM | c.8546G>C | p.Arg2849Pro | Missense | 58/63 | - |
11-108175456-C-T | ATM | c.5551C>T | p.Leu1851Phe | Missense | 37/63 | - |
11-108175456-C-G | ATM | c.5551C>G | p.Leu1851Val | Missense | 37/63 | - |
17-41244665-G-A | BRCA1 | c.2883C>T | p.Asn961Asn | Synonymous | 10/23 | - |
22-29130442-G-A | CHEK2 | c.268C>T | p.Pro90Ser | Missense | 2/16 | - |
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 | - |
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 | - |
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 | - |
17-7577538-C-A | TP53 | c.743G>T | p.Arg248Leu | Missense | 7/11 | - |
16-23646194-A-G | PALB2 | c.1673T>C | p.Ile558Thr | Missense | 4/13 | - |
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-A | TP53 | c.830G>T | p.Cys277Phe | Missense | 8/11 | - |
17-7577108-C-T | TP53 | c.830G>A | p.Cys277Tyr | Missense | 8/11 | - |
19-1223125-C-T | STK11 | c.1062C>T | p.Phe354Phe | Synonymous | 8/10 | - |
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 | - |
16-68849575-T-C | CDH1 | c.1478T>C | p.Val493Ala | Missense | 10/16 | - |
17-41244405-C-G | BRCA1 | c.3143G>C | p.Gly1048Ala | Missense | 10/23 | - |
13-32914046-G-T | BRCA2 | c.5554G>T | p.Val1852Phe | Missense | 11/27 | - |
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 | - |
13-32900694-T-C | BRCA2 | c.575T>C | p.Met192Thr | Missense | 7/27 | - |
17-29661953-A-G | NF1 | c.5847A>G | p.Arg1949Arg | Synonymous | 39/57 | - |
11-108200991-G-A | ATM | c.7358G>A | p.Arg2453His | Missense | 50/63 | - |
16-23641130-G-A | PALB2 | c.2345C>T | p.Pro782Leu | Missense | 5/13 | - |
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 | - |
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 | - |
13-32907504-C-T | BRCA2 | c.1889C>T | p.Thr630Ile | Missense | 10/27 | - |
11-108119802-C-T | ATM | c.1208C>T | p.Ser403Leu | Missense | 9/63 | - |
11-108119802-C-A | ATM | c.1208C>A | p.Ser403* | Nonsense | 9/63 | - |
17-41267762-A-G | BRCA1 | c.115T>C | p.Cys39Arg | Missense | 3/23 | - |
17-41267762-A-C | BRCA1 | c.115T>G | p.Cys39Gly | 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 |
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 | - |
17-29654606-G-A | NF1 | c.5295G>A | p.Ser1765Ser | Synonymous | 37/57 | - |
16-68856080-C-G | CDH1 | c.1888C>G | p.Leu630Val | Missense | 12/16 | - |
16-23641130-G-T | PALB2 | c.2345C>A | p.Pro782Gln | Missense | 5/13 | - |
11-108170516-C-G | ATM | c.5081C>G | p.Ala1694Gly | Missense | 34/63 | - |
11-108170516-C-T | ATM | c.5081C>T | p.Ala1694Val | 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 | - |
17-29490282-A-G | NF1 | c.367A>G | p.Thr123Ala | Missense | 4/57 | - |
22-29091225-C-G | CHEK2 | c.1394G>C | p.Ser465Thr | Missense | 13/16 | - |
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 | - |
13-32930715-GG-G | BRCA2 | c.7586delG | p.Gly2529Alafs*22 | Frameshift | 15/27 | - |
17-41201179-C-G | BRCA1 | c.5365G>C | p.Ala1789Pro | Missense | 21/23 | - |
11-108186750-T-C | ATM | c.6108T>C | p.Tyr2036Tyr | Synonymous | 42/63 | - |
13-32929146-T-TT | BRCA2 | c.7156_7156dup | p.Ser2386Phefs*6 | Frameshift | 14/27 | - |
13-32972356-A-G | BRCA2 | c.9706A>G | p.Lys3236Glu | Missense | 27/27 | - |
13-32912785-A-G | BRCA2 | c.4293A>G | p.Ala1431Ala | Synonymous | 11/27 | - |
11-108143485-A-G | ATM | c.3190A>G | p.Met1064Val | Missense | 22/63 | - |
17-7579885-C-G | TP53 | c.28G>C | p.Val10Leu | Missense | 2/11 | - |
13-32911593-T-G | BRCA2 | c.3101T>G | p.Ile1034Ser | Missense | 11/27 | - |
17-29661994-A-G | NF1 | c.5888A>G | p.Asn1963Ser | Missense | 39/57 | - |
13-32903606-TGT-T | BRCA2 | c.658_659delGT | p.Val220Ilefs*4 | Frameshift | 8/27 | - |
11-108168053-A-C | ATM | c.4949A>C | p.Asn1650Thr | Missense | 33/63 | - |
11-108168053-A-G | ATM | c.4949A>G | p.Asn1650Ser | Missense | 33/63 | - |
17-41246305-C-A | BRCA1 | c.1243G>T | p.Val415Phe | Missense | 10/23 | - |
11-108143485-A-T | ATM | c.3190A>T | p.Met1064Leu | Missense | 22/63 | - |
17-41244007-C-G | BRCA1 | c.3541G>C | p.Val1181Leu | Missense | 10/23 | - |
17-41246156-G-C | BRCA1 | c.1392C>G | p.Thr464Thr | Synonymous | 10/23 | - |
13-32931967-G-A | BRCA2 | c.7706G>A | p.Gly2569Asp | Missense | 16/27 | - |
17-29490284-C-G | NF1 | c.369C>G | p.Thr123Thr | Synonymous | 4/57 | - |
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 | - |
19-1226570-G-A | STK11 | c.1226G>A | p.Arg409Gln | Missense | 9/10 | - |
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 | - |
17-41234470-A-G | BRCA1 | c.4308T>C | p.Ser1436Ser | Synonymous | 12/23 | - |
13-32971139-G-A | BRCA2 | c.9606G>A | p.Pro3202Pro | Synonymous | 26/27 | - |
13-32912610-T-C | BRCA2 | c.4118T>C | p.Met1373Thr | Missense | 11/27 | - |
17-29684013-C-A | NF1 | c.7711C>A | p.His2571Asn | Missense | 52/57 | - |
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 | - |
13-32930636-G-A | BRCA2 | c.7507G>A | p.Val2503Ile | Missense | 15/27 | - |
17-41203094-G-A | BRCA1 | c.5318C>T | p.Thr1773Ile | Missense | 20/23 | - |
13-32914229-T-G | BRCA2 | c.5737T>G | p.Cys1913Gly | Missense | 11/27 | - |
13-32912919-A-G | BRCA2 | c.4427A>G | p.Asp1476Gly | Missense | 11/27 | - |
19-1226574-C-G | STK11 | c.1230C>G | p.Ala410Ala | Synonymous | 9/10 | - |
19-1226574-C-T | STK11 | c.1230C>T | p.Ala410Ala | Synonymous | 9/10 | - |
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 | - |
17-41267762-A-T | BRCA1 | c.115T>A | p.Cys39Ser | Missense | 3/23 | - |
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 | - |
17-29556374-G-A | NF1 | c.2741G>A | p.Arg914Gln | Missense | 21/57 | - |
19-1220708-G-T | STK11 | c.726G>T | p.Gly242Gly | Synonymous | 5/10 | - |
17-29657457-A-G | NF1 | c.5690A>G | p.Asn1897Ser | Missense | 38/57 | - |
13-32914175-G-A | BRCA2 | c.5683G>A | p.Glu1895Lys | Missense | 11/27 | - |
16-68867342-C-A | CDH1 | c.2589C>A | p.Asn863Lys | Missense | 16/16 | - |
16-68867342-C-T | CDH1 | c.2589C>T | p.Asn863Asn | Synonymous | 16/16 | - |
17-41209101-G-T | BRCA1 | c.5245C>A | p.Pro1749Thr | Missense | 19/23 | - |
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 | - |
19-1219347-G-T | STK11 | c.399G>T | p.Val133Val | Synonymous | 3/10 | - |
19-1219347-G-A | STK11 | c.399G>A | p.Val133Val | Synonymous | 3/10 | - |
13-32906558-T-A | BRCA2 | c.943T>A | p.Cys315Ser | Missense | 10/27 | - |
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 | - |
13-32893253-C-T | BRCA2 | c.107C>T | p.Ser36Phe | Missense | 3/27 | - |
13-32912733-C-T | BRCA2 | c.4241C>T | p.Thr1414Met | Missense | 11/27 | - |
17-41223133-A-G | BRCA1 | c.4798T>C | p.Leu1600Leu | Synonymous | 15/23 | - |
16-23641218-G-A | PALB2 | c.2257C>T | p.Arg753* | Nonsense | 5/13 | - |
11-108180917-T-C | ATM | c.5793T>C | p.Ala1931Ala | Synonymous | 39/63 | - |
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 | - |
13-32910842-A-G | BRCA2 | c.2350A>G | p.Met784Val | Missense | 11/27 | - |
17-41219631-T-G | BRCA1 | c.5068A>C | p.Lys1690Gln | Missense | 16/23 | - |
17-41226540-T-G | BRCA1 | c.4485-2A>C | - | IntronicSNV | - | 13/22 |
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 | - |
17-29654538-G-T | NF1 | c.5227G>T | p.Val1743Leu | Missense | 37/57 | - |
17-41244822-T-A | BRCA1 | c.2726A>T | p.Asn909Ile | Missense | 10/23 | - |
17-29553485-G-A | NF1 | c.2034G>A | p.Pro678Pro | Synonymous | 18/57 | - |
16-68853202-A-G | CDH1 | c.1585A>G | p.Thr529Ala | Missense | 11/16 | - |
16-23647146-T-G | PALB2 | c.721A>C | p.Asn241His | Missense | 4/13 | - |
17-29483074-A-G | NF1 | c.134A>G | p.Asn45Ser | Missense | 2/57 | - |
17-29541475-A-T | NF1 | c.1399A>T | p.Thr467Ser | Missense | 13/57 | - |
13-32911438-A-C | BRCA2 | c.2946A>C | p.Ile982Ile | Synonymous | 11/27 | - |
16-23646327-C-T | PALB2 | c.1540G>A | p.Gly514Arg | Missense | 4/13 | - |
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 | - |
13-32913692-G-C | BRCA2 | c.5200G>C | p.Glu1734Gln | Missense | 11/27 | - |
13-32913692-G-A | BRCA2 | c.5200G>A | p.Glu1734Lys | Missense | 11/27 | - |
13-32913692-G-T | BRCA2 | c.5200G>T | p.Glu1734* | Nonsense | 11/27 | - |
17-41219701-G-C | BRCA1 | c.4998C>G | p.Tyr1666* | Nonsense | 16/23 | - |
17-41219701-G-A | BRCA1 | c.4998C>T | p.Tyr1666Tyr | Synonymous | 16/23 | - |
17-41219701-G-T | BRCA1 | c.4998C>A | p.Tyr1666* | Nonsense | 16/23 | - |
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 | - |
13-32914593-G-A | BRCA2 | c.6101G>A | p.Arg2034His | Missense | 11/27 | - |
16-23649399-G-A | PALB2 | c.100C>T | p.Arg34Cys | Missense | 2/13 | - |
17-41256153-C-A | BRCA1 | c.427G>T | p.Glu143* | Nonsense | 6/23 | - |
17-41256153-C-G | BRCA1 | c.427G>C | p.Glu143Gln | Missense | 6/23 | - |
13-32913070-A-C | BRCA2 | c.4578A>C | p.Thr1526Thr | Synonymous | 11/27 | - |
16-23647372-G-A | PALB2 | c.495C>T | p.Gly165Gly | Synonymous | 4/13 | - |
17-29557278-G-T | NF1 | c.2991G>T | p.Arg997Ser | Missense | 23/57 | - |
17-41256190-G-C | BRCA1 | c.390C>G | p.Tyr130* | Nonsense | 6/23 | - |
17-7574012-C-G | TP53 | c.1015G>C | p.Glu339Gln | Missense | 10/11 | - |
17-7574012-C-T | TP53 | c.1015G>A | p.Glu339Lys | Missense | 10/11 | - |
17-29550541-C-T | NF1 | c.1801C>T | p.Arg601Trp | Missense | 16/57 | - |
11-108165736-A-C | ATM | c.4859A>C | p.Gln1620Pro | Missense | 32/63 | - |
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 | - |
11-108100042-C-G | ATM | c.323C>G | p.Ala108Gly | Missense | 4/63 | - |
11-108186743-G-A | ATM | c.6101G>A | p.Arg2034Gln | Missense | 42/63 | - |
13-32914897-ACTTAA-A | BRCA2 | c.6405_6409delCTTAA | p.Asn2135Lysfs*3 | Frameshift | 11/27 | - |
11-108115564-A-G | ATM | c.712A>G | p.Ile238Val | Missense | 7/63 | - |
19-1220590-C-T | STK11 | c.608C>T | p.Pro203Leu | Missense | 5/10 | - |
11-108124682-C-T | ATM | c.2040C>T | p.Phe680Phe | Synonymous | 13/63 | - |
17-29496991-G-A | NF1 | c.562G>A | p.Ala188Thr | Missense | 5/57 | - |
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 | - |
17-41244617-T-G | BRCA1 | c.2931A>C | p.Pro977Pro | Synonymous | 10/23 | - |
16-68844102-C-T | CDH1 | c.690C>T | p.Leu230Leu | Synonymous | 6/16 | - |
11-108175529-G-C | ATM | c.5624G>C | p.Arg1875Pro | Missense | 37/63 | - |
11-108175529-G-A | ATM | c.5624G>A | p.Arg1875Gln | Missense | 37/63 | - |
17-41244265-T-C | BRCA1 | c.3283A>G | p.Lys1095Glu | Missense | 10/23 | - |
13-32911319-A-G | BRCA2 | c.2827A>G | p.Ile943Val | Missense | 11/27 | - |
17-29670074-C-T | NF1 | c.7047C>T | p.His2349His | Synonymous | 47/57 | - |
11-108198411-A-C | ATM | c.7015A>C | p.Arg2339Arg | Synonymous | 48/63 | - |
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 | - |
13-32954009-C-T | BRCA2 | c.9076C>T | p.Gln3026* | Nonsense | 23/27 | - |
17-41245067-T-C | BRCA1 | c.2481A>G | p.Glu827Glu | Synonymous | 10/23 | - |
17-29576098-C-T | NF1 | c.4071C>T | p.Phe1357Phe | Synonymous | 30/57 | - |
16-23614916-TAAGT-T | PALB2 | c.3426_3429delACTT | p.Leu1142Phefs*20 | Frameshift | 13/13 | - |
13-32914174-C-A | BRCA2 | c.5682C>A | p.Tyr1894* | Nonsense | 11/27 | - |
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 | - |
13-32900251-C-T | BRCA2 | c.439C>T | p.Gln147* | Nonsense | 5/27 | - |
17-29557287-T-C | NF1 | c.3000T>C | p.Arg1000Arg | Synonymous | 23/57 | - |
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 | - |
16-23646375-C-T | PALB2 | c.1492G>A | p.Asp498Asn | Missense | 4/13 | - |
11-108137926-G-T | ATM | c.2495G>T | p.Arg832Leu | Missense | 17/63 | - |
13-32913026-C-T | BRCA2 | c.4534C>T | p.Arg1512Cys | Missense | 11/27 | - |
13-32903579-G-T | BRCA2 | c.632-1G>T | - | IntronicSNV | - | 7/26 |
16-23634405-G-A | PALB2 | c.2881C>T | p.Leu961Leu | Synonymous | 9/13 | - |
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-C | ATM | c.2495G>C | p.Arg832Pro | Missense | 17/63 | - |
11-108175462-G-A | ATM | c.5557G>A | p.Asp1853Asn | Missense | 37/63 | - |
17-29679351-G-A | NF1 | c.7471G>A | p.Gly2491Ser | Missense | 50/57 | - |
11-108124595-A-G | ATM | c.1953A>G | p.Leu651Leu | Synonymous | 13/63 | - |
11-108201135-A-G | ATM | c.7502A>G | p.Asn2501Ser | Missense | 50/63 | - |
16-68867396-C-T | CDH1 | c.2643C>T | p.Asp881Asp | Synonymous | 16/16 | - |
16-23640966-C-T | PALB2 | c.2509G>A | p.Glu837Lys | Missense | 5/13 | - |
10-89624304-C-T | PTEN | c.78C>T | p.Thr26Thr | Synonymous | 1/9 | - |
13-32893253-C-A | BRCA2 | c.107C>A | p.Ser36Tyr | Missense | 3/27 | - |
17-41243696-G-T | BRCA1 | c.3852C>A | p.His1284Gln | Missense | 10/23 | - |
16-23640966-C-A | PALB2 | c.2509G>T | p.Glu837* | Nonsense | 5/13 | - |
16-68847375-G-A | CDH1 | c.1297G>A | p.Asp433Asn | Missense | 9/16 | - |
10-89624304-C-A | PTEN | c.78C>A | p.Thr26Thr | Synonymous | 1/9 | - |
11-108121767-G-A | ATM | c.1575G>A | p.Lys525Lys | Synonymous | 10/63 | - |
19-1226620-C-T | STK11 | c.1276C>T | p.Arg426Trp | Missense | 9/10 | - |
19-1226620-C-A | STK11 | c.1276C>A | p.Arg426Arg | Synonymous | 9/10 | - |
19-1226620-C-G | STK11 | c.1276C>G | p.Arg426Gly | Missense | 9/10 | - |
11-108216478-A-G | ATM | c.8427A>G | p.Gln2809Gln | Synonymous | 58/63 | - |
13-32929056-T-G | BRCA2 | c.7066T>G | p.Phe2356Val | Missense | 14/27 | - |
17-29701168-G-C | NF1 | c.8452G>C | p.Val2818Leu | Missense | 57/57 | - |
17-29585451-G-A | NF1 | c.4200G>A | p.Pro1400Pro | Synonymous | 31/57 | - |
17-41223094-T-A | BRCA1 | c.4837A>T | p.Ser1613Cys | Missense | 15/23 | - |
17-41223094-T-C | BRCA1 | c.4837A>G | p.Ser1613Gly | Missense | 15/23 | - |
13-32893435-G-T | BRCA2 | c.289G>T | p.Glu97* | Nonsense | 3/27 | - |
11-108170490-C-T | ATM | c.5055C>T | p.Thr1685Thr | Synonymous | 34/63 | - |
13-32907165-A-G | BRCA2 | c.1550A>G | p.Asn517Ser | Missense | 10/27 | - |
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 | - |
13-32914591-A-G | BRCA2 | c.6099A>G | p.Ile2033Met | Missense | 11/27 | - |
17-41219707-G-A | BRCA1 | c.4992C>T | p.Leu1664Leu | Synonymous | 16/23 | - |
17-41246792-A-G | BRCA1 | c.756T>C | p.Arg252Arg | Synonymous | 10/23 | - |
11-108126975-C-T | ATM | c.2158C>T | p.Arg720Cys | Missense | 14/63 | - |
11-108126975-C-A | ATM | c.2158C>A | p.Arg720Ser | Missense | 14/63 | - |
17-7578244-C-A | TP53 | c.605G>T | p.Arg202Leu | Missense | 6/11 | - |
13-32914623-G-T | BRCA2 | c.6131G>T | p.Gly2044Val | Missense | 11/27 | - |
13-32914623-G-C | BRCA2 | c.6131G>C | p.Gly2044Ala | Missense | 11/27 | - |
13-32914623-G-A | BRCA2 | c.6131G>A | p.Gly2044Asp | Missense | 11/27 | - |
17-7579705-C-A | TP53 | c.91G>T | p.Val31Phe | Missense | 3/11 | - |
17-7577120-C-A | TP53 | c.818G>T | p.Arg273Leu | Missense | 8/11 | - |
11-108192129-T-C | ATM | c.6554T>C | p.Ile2185Thr | Missense | 45/63 | - |
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 | - |
13-32914229-T-C | BRCA2 | c.5737T>C | p.Cys1913Arg | Missense | 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 | - |
11-108168035-T-C | ATM | c.4931T>C | p.Met1644Thr | Missense | 33/63 | - |
19-1221294-G-A | STK11 | c.817G>A | p.Ala273Thr | Missense | 6/10 | - |
17-7578283-G-A | TP53 | c.566C>T | p.Ala189Val | Missense | 6/11 | - |
13-32911712-A-T | BRCA2 | c.3220A>T | p.Ser1074Cys | Missense | 11/27 | - |
17-41203085-G-A | BRCA1 | c.5327C>T | p.Pro1776Leu | Missense | 20/23 | - |
11-108121675-A-G | ATM | c.1483A>G | p.Ile495Val | Missense | 10/63 | - |
17-41245683-G-C | BRCA1 | c.1865C>G | p.Ala622Gly | Missense | 10/23 | - |
10-89717698-T-G | PTEN | c.723T>G | p.Phe241Leu | Missense | 7/9 | - |
13-32913023-G-A | BRCA2 | c.4531G>A | p.Glu1511Lys | Missense | 11/27 | - |
17-41244465-C-T | BRCA1 | c.3083G>A | p.Arg1028His | Missense | 10/23 | - |
11-108099970-C-T | ATM | c.251C>T | p.Ala84Val | Missense | 4/63 | - |
17-41243908-C-T | BRCA1 | c.3640G>A | p.Glu1214Lys | Missense | 10/23 | - |
11-108224583-C-T | ATM | c.8762C>T | p.Thr2921Met | Missense | 60/63 | - |
17-7576543-C-A | TP53 | c.993+310G>T | - | IntronicSNV | - | 9/10 |
17-7576543-C-T | TP53 | c.993+310G>A | - | IntronicSNV | - | 9/10 |
10-89717698-T-C | PTEN | c.723T>C | p.Phe241Phe | Synonymous | 7/9 | - |
17-7578406-C-A | TP53 | c.524G>T | p.Arg175Leu | Missense | 5/11 | - |
13-32972763-T-C | BRCA2 | c.10113T>C | p.Thr3371Thr | Synonymous | 27/27 | - |
17-29667607-G-C | NF1 | c.6943G>C | p.Ala2315Pro | Missense | 46/57 | - |
17-29667607-G-A | NF1 | c.6943G>A | p.Ala2315Thr | Missense | 46/57 | - |
13-32914152-C-T | BRCA2 | c.5660C>T | p.Thr1887Met | Missense | 11/27 | - |
13-32945130-G-T | BRCA2 | c.8525G>T | p.Arg2842Leu | Missense | 20/27 | - |
16-68772305-C-T | CDH1 | c.154C>T | p.Leu52Leu | Synonymous | 2/16 | - |
16-68853227-C-T | CDH1 | c.1610C>T | p.Pro537Leu | Missense | 11/16 | - |
17-29683555-A-C | NF1 | c.7630A>C | p.Thr2544Pro | Missense | 51/57 | - |
11-108142134-G-A | ATM | c.3077+1G>A | - | IntronicSNV | - | 20/62 |
22-29083913-C-T | CHEK2 | c.1733G>A | p.Arg578His | Missense | 16/16 | - |
11-108142134-G-T | ATM | c.3077+1G>T | - | IntronicSNV | - | 20/62 |
17-29677202-T-G | NF1 | c.7260T>G | p.Ala2420Ala | Synonymous | 49/57 | - |
13-32913987-C-G | BRCA2 | c.5495C>G | p.Ser1832Cys | Missense | 11/27 | - |
19-1223170-C-T | STK11 | c.1107C>T | p.Pro369Pro | Synonymous | 8/10 | - |
11-108098564-G-A | ATM | c.134G>A | p.Arg45Gln | Missense | 3/63 | - |
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 | - |
17-7573948-C-T | TP53 | c.1079G>A | p.Gly360Glu | Missense | 10/11 | - |
17-7578470-C-G | TP53 | c.460G>C | p.Gly154Arg | Missense | 5/11 | - |
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 | - |
13-32929388-A-G | BRCA2 | c.7398A>G | p.Val2466Val | Synonymous | 14/27 | - |
16-68845620-C-T | CDH1 | c.866C>T | p.Ala289Val | Missense | 7/16 | - |
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 | - |
16-23641058-G-A | PALB2 | c.2417C>T | p.Pro806Leu | Missense | 5/13 | - |
17-29657473-G-T | NF1 | c.5706G>T | p.Thr1902Thr | Synonymous | 38/57 | - |
13-32914640-G-T | BRCA2 | c.6148G>T | p.Val2050Leu | Missense | 11/27 | - |
13-32954242-G-A | BRCA2 | c.9216G>A | p.Val3072Val | Synonymous | 24/27 | - |
13-32914640-G-A | BRCA2 | c.6148G>A | p.Val2050Ile | Missense | 11/27 | - |
16-68863655-T-C | CDH1 | c.2394T>C | p.Leu798Leu | Synonymous | 15/16 | - |
17-29654756-C-T | NF1 | c.5445C>T | p.Pro1815Pro | Synonymous | 37/57 | - |
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 | - |
13-32906890-A-G | BRCA2 | c.1275A>G | p.Glu425Glu | Synonymous | 10/27 | - |
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 | - |
16-23635380-C-T | PALB2 | c.2784G>A | p.Val928Val | Synonymous | 8/13 | - |
13-32913674-G-A | BRCA2 | c.5182G>A | p.Asp1728Asn | Missense | 11/27 | - |
17-7578414-A-C | TP53 | c.516T>G | p.Val172Val | Synonymous | 5/11 | - |
13-32913457-C-G | BRCA2 | c.4965C>G | p.Tyr1655* | Nonsense | 11/27 | - |
17-29533260-C-T | NF1 | c.1263C>T | p.Ser421Ser | Synonymous | 12/57 | - |
13-32893381-A-G | BRCA2 | c.235A>G | p.Ile79Val | Missense | 3/27 | - |
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 | - |
13-32954050-G-C | BRCA2 | c.9117G>C | p.Pro3039Pro | Synonymous | 23/27 | - |
13-32900264-T-C | BRCA2 | c.452T>C | p.Val151Ala | Missense | 5/27 | - |
16-23646191-T-C | PALB2 | c.1676A>G | p.Gln559Arg | Missense | 4/13 | - |
16-23646191-T-A | PALB2 | c.1676A>T | p.Gln559Leu | Missense | 4/13 | - |
13-32954050-G-A | BRCA2 | c.9117G>A | p.Pro3039Pro | Synonymous | 23/27 | - |
11-108178644-T-C | ATM | c.5695T>C | p.Cys1899Arg | Missense | 38/63 | - |
11-108178644-T-A | ATM | c.5695T>A | p.Cys1899Ser | Missense | 38/63 | - |
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 | - |
17-41197760-C-G | BRCA1 | c.5527G>C | p.Ala1843Pro | Missense | 23/23 | - |
19-1226535-G-T | STK11 | c.1191G>T | p.Ala397Ala | Synonymous | 9/10 | - |
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 | - |
13-32930598-T-C | BRCA2 | c.7469T>C | p.Ile2490Thr | Missense | 15/27 | - |
11-108163375-G-A | ATM | c.4466G>A | p.Arg1489His | Missense | 30/63 | - |