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Варианты

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Патогенные
Патогенные
Pathogenic, Likely Pathogenic, VUS
Все мутации
Pathogenic, Likely Pathogenic, VUS или частота в gnomAD не более 1% и не в интронах или между генами
Все варианты
Не в интронах или между генами
Расширенный поиск
Доступен только зарегистрированным пользователям. Войти в учетную запись
Генhg19ТранскрипткДНКБелокФункцияЛокализацияПатогенностьЧастота в gnomADgMAXЧастота
в проекте
Частота
в экзомах *
BRCA1chr17:41209079 T>TGNM_007294.3c.5266dupCp.Q1756fsframeshift insexonPathogenic0.0004NFE0.035128/36520.00223/1386CHEK2chr22:29121087 A>GNM_007194.3c.470T>Cp.I157TmissenseexonLikely pathogenic0.0161NFE0.021478/36520.016623/1384CDH1chr16:68844220 T>GNM_004360.4c.808T>Gp.S270AmissenseexonVUS0.0018NFE0.00622/36520.00436/1382PMS2chr7:6045600 C>GNM_000535.6c.86G>Cp.G29AmissenseexonVUS0.0007NFE0.003814/36520.007210/1386MLH1chr3:37035032 C>TNM_000249.3c.-7C>T5'UTRVUS0.0004NFE0.003814/36520.00375/1350BRCA1chr17:41243512 CT>CNM_007294.3c.4035delAp.E1345fsframeshift delexonPathogenic0.0005NFE0.003814/3652MLH1chr3:37067410 G>ANM_000249.3c.1321G>Ap.A441TmissenseexonVUS0.0016NFE0.003613/36520.00365/1386BRCA1chr17:41258504 A>CNM_007294.3c.181T>Gp.C61GmissenseexonPathogenic0.00311/3652BRCA1chr17:41215382 G>ANM_007294.3c.5161C>Tp.Q1721Xstop gainexonPathogenic0.00259/3652BRCA1chr17:41245586 CT>CNM_007294.3c.1961delAp.K654fsframeshift delexonPathogenic0.00006673NFE0.00259/3652BRCA2chr13:32889548 C>TNM_000059.3c.-1050C>TupstreamVUS0.0049NFE0.00228/3652CHEK2chr22:29091856 AG>ANM_007194.3c.1100delCp.T367fsframeshift delexonPathogenic0.0025NFE0.00197/3652BRCA1chr17:41209095 G>ANM_007294.3c.5251C>Tp.R1751Xstop gainexonPathogenic0.0001AFR0.00197/3652MSH2chr2:47635588 C>GNM_000251.2c.260C>Gp.S87CmissenseexonVUS0.00006693NFE0.00197/36520.00142/1384BRCA1chr17:41226348 C>TNM_007294.3c.4675G>Ap.E1559KmissenseexonPathogenic0.00006665NFE0.00197/3652BRCA2chr13:32906576 C>CAANM_000059.3c.961_962insAAp.Q321fsframeshift insexonPathogenic0.00166/3652PALB2chr16:23646274 CA>CNM_024675.3c.1592delTp.L531fsframeshift delexonPathogenic0NFE0.00166/36520.00071/1386MSH6chr2:48025785 A>CNM_000179.2c.663A>Cp.E221DmissenseexonVUS0.0009NFE0.00166/36520.00071/1386CHEK2chr22:29121230 C>TNM_007194.3c.444+1G>Asplicingsplice sitePathogenic0.0002NFE0.00166/36520.00223/1386BRCA2chr13:32912240 G>GANM_000059.3c.3749dupAp.E1250fsframeshift insexonPathogenic0.00145/3652BRCA1chr17:41276044 ACT>ANM_007294.3c.68_69delp.E23fsframeshift delexonPathogenic0NFE0.00145/3652BRCA1chr17:41243843 GTTTAC>GNM_007294.3c.3700_3704delp.V1234fsframeshift delexonPathogenic0.00145/3652CHEK2chr22:29099503 CAATAT>CNM_007194.3c.893_897delp.Y298fsframeshift delexonPathogenic0.00145/36520.00071/1380EPCAMchr2:47612302 C>GNM_002354.2c.859-3C>Gsplicingsplice siteVUS0.0003NFE0.00114/36520.00223/1386RAD51Bchr14:68352608 C>TNM_001321814.1c.475C>Tp.R159CmissenseexonPathogenic0.0001NFE0.00114/3652CDH1chr16:68863582 G>ANM_004360.4c.2321G>Ap.R774KmissenseexonLikely pathogenic0.00114/3652BRCA2chr13:32950929 G>ANM_000059.3c.8754+1G>Asplicingsplice sitePathogenic0.00114/3652ATMchr11:108183151 G>TNM_000051.3c.5932G>Tp.E1978Xstop gainexonPathogenic0.00114/36520.00071/1378CHEK2chr22:29130389 A>TNM_007194.3c.319+2T>Asplicingsplice sitePathogenic0.0006NFE0.00083/3652MLH1chr3:37092067 A>GNM_000249.3c.2194A>Gp.K732EmissenseexonVUS0.00083/3652BRCA2chr13:32911388 ACT>ANM_000059.3c.2897_2898delp.T966fsframeshift delexonPathogenic0.00083/3652CDH1chr16:68845646 G>ANM_004360.4c.892G>Ap.A298TmissenseexonLikely pathogenic0.0004NFE0.00083/3652CHEK2chr22:29121016 G>ANM_007194.3c.541C>Tp.R181CmissenseexonLikely pathogenic0.0001AFR0.00083/3652RAD51Bchr14:68352674 C>TNM_001321814.1c.541C>Tp.R181WmissenseexonPathogenic0.0005NFE0.00083/3652BRCA2chr13:32913778 T>GNM_000059.3c.5286T>Gp.Y1762Xstop gainexonPathogenic0.00083/3652PALB2chr16:23614833 G>ANM_024675.3c.3508C>Tp.H1170YmissenseexonVUS0.00006665NFE0.00083/36520.00223/1386BRCA1chr17:41223242 G>CNM_007294.3c.4689C>Gp.Y1563Xstop gainexonPathogenic0.00083/3652MSH6chr2:48033775 C>TNM_000179.2c.3986C>Tp.S1329LmissenseexonVUS0.0001NFE0.00083/36520.00142/1386MLH1chr3:37090075 T>CNM_000249.3c.1964T>Cp.I655TmissenseexonVUS0.0003NFE0.00083/36520.00142/1384BRCA2chr13:32954050 G>ANM_000059.3c.9117G>Ap.P3039PsynonymousexonPathogenic0.00083/3652BRCA1chr17:41276047 C>CTNM_007294.3c.66dupAp.E23fsframeshift insexonPathogenic0.00083/3652BRCA2chr13:32911297 TAAAC>TNM_000059.3c.2806_2809delp.K936fsframeshift delexonPathogenic0.00083/3652MSH2chr2:47703678 G>CNM_000251.2c.2178G>Cp.M726ImissenseexonLikely pathogenic0.00052/3652ATMchr11:108121752 CAG>CNM_000051.3c.1561_1562delp.R521fsframeshift delexonPathogenic0.00052/3652BRCA2chr13:32912171 CTGAA>CNM_000059.3c.3680_3683delp.L1227fsframeshift delexonPathogenic0.00052/3652PMS2chr7:6026766 C>TNM_000535.6c.1630G>Ap.D544NmissenseexonVUS0.00052/3652BRCA1chr17:41243917 ACT>ANM_007294.3c.3629_3630delp.E1210fsframeshift delexonPathogenic0.00052/3652BRCA1chr17:41234451 G>ANM_007294.3c.4327C>Tp.R1443Xstop gainexonPathogenic0.0001AFR0.00052/3652BRCA2chr13:32906915 AAAAG>ANM_000059.3c.1301_1304delp.K434fsframeshift delexonPathogenic0.00052/3652PALB2chr16:23647356 ATC>ANM_024675.3c.509_510delp.R170fsframeshift delexonPathogenic0.00052/36520.00142/1384MSH6chr2:48026421 T>GNM_000179.2c.1299T>Gp.Y433Xstop gainexonPathogenic0.00052/3652PMS2chr7:6027128 G>CNM_000535.6c.1268C>Gp.A423GmissenseexonVUS0.0009NFE0.00052/3652MSH6chr2:48026360 G>ANM_000179.2c.1238G>Ap.W413Xstop gainexonPathogenic0.00052/3652BRCA1chr17:41244404 AC>ANM_007294.3c.3143delGp.G1048fsframeshift delexonPathogenic0.00052/3652PALB2chr16:23625361 G>TNM_024675.3c.3165C>Ap.Y1055Xstop gainexonPathogenic0.00052/36520.00142/1382BRCA1chr17:41215969 C>TNM_007294.3c.5075-1G>Asplicingsplice sitePathogenic0.00052/3652ATMchr11:108205832 T>CNM_000051.3c.8147T>Cp.V2716AmissenseexonPathogenic0.0001AFR0.00052/3652BRIP1chr17:59858343 G>TNM_032043.2c.1652C>Ap.A551EmissenseexonVUS0.00006662NFE0.00052/3652TP53chr17:7577091 G>ANM_000546.5c.847C>Tp.R283CmissenseexonPathogenic0.0002NFE0.00052/3652BRCA2chr13:32921034 G>ANM_000059.3c.7007+1G>Asplicingsplice sitePathogenic0.00052/3652MLH1chr3:37061861 C>GNM_000249.3c.945C>Gp.H315QmissenseexonVUS0.00006662NFE0.00052/36520.00071/1388PTENchr10:89690828 G>ANM_000314.6c.235G>Ap.A79TmissenseexonVUS0.0001NFE0.00052/3652MSH6chr2:48033920 A>CNM_000179.2c.4004A>Cp.E1335AmissenseexonLikely pathogenic0.0012AMR0.00052/3652BRCA2chr13:32910804 T>GNM_000059.3c.2312T>Gp.L771Xstop gainexonPathogenic0.00006666NFE0.00052/3652MSH6chr2:48033370 C>TNM_000179.2c.3674C>Tp.T1225MmissenseexonVUS0.0002NFE0.00052/36520.00142/1384ATMchr11:108202604 A>CNM_000051.3c.7630-2A>Csplicingsplice sitePathogenic0.00006665NFE0.00052/3652PMS2chr7:6026801 T>CNM_000535.6c.1595A>Gp.H532RmissenseexonVUS0.00052/3652ATMchr11:108165730 G>ANM_000051.3c.4853G>Ap.R1618QmissenseexonPathogenic0.00052/3652BRCA1chr17:41243941 G>ANM_007294.3c.3607C>Tp.R1203Xstop gainexonPathogenic0.00052/3652BRCA1chr17:41201137 C>GNM_007294.3c.5406+1G>Csplicingsplice sitePathogenic0.00052/3652PMS2chr7:6017226 C>TNM_000535.6c.2438G>Ap.R813QmissenseexonVUS0.00052/3652CHEK2chr22:29121015 C>TNM_007194.3c.542G>Ap.R181HmissenseexonVUS0.0006EAS0.00052/3652MSH6chr2:48030603 C>TNM_000179.2c.3217C>Tp.P1073SmissenseexonVUS0.0001NFE0.00052/36520.00142/1388BRCA2chr13:32907408 CATCTT>CNM_000059.3c.1794_1798delp.T598fsframeshift delexonPathogenic0.00052/3652CHEK2chr22:29091121 C>CTNM_007194.3c.1368dupAp.E457fsframeshift insexonPathogenic0.00052/36520.00223/1384PALB2chr16:23646627 G>ANM_024675.3c.1240C>Tp.R414Xstop gainexonPathogenic0.00052/3652BRCA2chr13:32915082 CTG>CNM_000059.3c.6591_6592delp.T2197fsframeshift delexonPathogenic0.00052/3652ATMchr11:108201108 T>GNM_000051.3c.7475T>Gp.L2492RmissenseexonVUS0.0005NFE0.00052/36520.00152/1356TP53chr17:7578555 C>CTNM_000546.5c.376-1->Asplicingsplice siteVUS0.00031/3652ATMchr11:108206576 G>ANM_000051.3c.8156G>Ap.R2719HmissenseexonVUS0.00031/3652BRCA2chr13:32953959 AT>ANM_000059.3c.9027delTp.Y3009fsframeshift delexonPathogenic0.00031/3652MSH2chr2:47641430 C>TNM_000251.2c.815C>Tp.A272VmissenseexonLikely pathogenic0.0003NFE0.00031/36520.00071/1386MSH6chr2:48027795 C>GNM_000179.2c.2673C>Gp.I891MmissenseexonVUS0.00031/3652BRCA1chr17:41243775 TC>TNM_007294.3c.3772delGp.E1258fsframeshift delexonPathogenic0.00031/3652BRCA2chr13:32914800 C>ANM_000059.3c.6308C>Ap.S2103Xstop gainexonPathogenic0.00031/3652PMS2chr7:6026754 C>TNM_000535.6c.1642G>Ap.D548NmissenseexonVUS0.00031/3652BRCA1chr17:41244145 G>ANM_007294.3c.3403C>Tp.Q1135Xstop gainexonPathogenic0.00031/3652BRCA2chr13:32914069 T>TANM_000059.3c.5578dupAp.I1859fsframeshift insexonPathogenic0.00031/3652BRCA2chr13:32914939 T>TANM_000059.3c.6448dupAp.I2149fsframeshift insexonPathogenic0.00031/3652BRCA2chr13:32914766 CTT>CNM_000059.3c.6275_6276delp.L2092fsframeshift delexonPathogenic0.00006671NFE0.00031/3652RAD51Cchr17:56774151 A>TNM_058216.2c.502A>Tp.R168Xstop gainexonPathogenic0.00031/3652BRCA2chr13:32907434 A>TNM_000059.3c.1819A>Tp.K607Xstop gainexonPathogenic0.00031/3652BRCA2chr13:32907420 G>GANM_000059.3c.1806dupAp.G602fsframeshift insexonPathogenic0.00031/3652BRCA2chr13:32903604 CTG>CNM_000059.3c.657_658delp.T219fsframeshift delexonPathogenic0.0002AFR0.00031/36520.00071/1370BRCA1chr17:41246037 CG>CNM_007294.3c.1510delCp.R504fsframeshift delexonPathogenic0.00031/3652RAD51Cchr17:56770093 CG>CNM_058216.2c.90delGp.A30fsframeshift delexonPathogenic0NFE0.00031/3652CHEK2chr22:29130412 G>ANM_007194.3c.298C>Tp.Q100Xstop gainexonLikely pathogenic0.00031/3652BRCA2chr13:32932019 G>ANM_000059.3c.7758G>Ap.W2586Xstop gainexonPathogenic0.00031/3652BRCA2chr13:32911442 G>GANM_000059.3c.2951dupAp.E984fsframeshift insexonPathogenic0.00031/3652BRCA1chr17:41242952 GCTTTTTAC>GNM_007294.3c.4185+1_4185+8delGTAAAAAGsplicingsplice sitePathogenic0.00031/3652RAD51Dchr17:33430317 G>ANM_002878.3c.694C>Tp.R232Xstop gainexonPathogenic0.00006664NFE0.00031/3652MSH2chr2:47635560 G>CNM_000251.2c.232G>Cp.V78LmissenseexonVUS0.00031/3652MLH1chr3:37050323 A>GNM_000249.3c.472A>Gp.N158DmissenseexonVUS0.00031/3652MSH6chr2:48033789 C>TNM_000179.2c.4000C>Tp.R1334WmissenseexonLikely pathogenic0.0001AFR0.00031/3652BRCA1chr17:41246531 CTT>CNM_007294.3c.1015_1016delp.K339fsframeshift delexonPathogenic0.00031/3652BRCA1chr17:41244296 AAGCAT>ANM_007294.3c.3247_3251delp.M1083fsframeshift delexonPathogenic0.00031/3652EPCAMchr2:47602397 C>GNM_002354.2c.450C>Gp.H150QmissenseexonVUS0.00031/3652BRCA2chr13:32906565 C>CANM_000059.3c.951dupAp.T317fsframeshift insexonPathogenic0.00031/3652BRCA2chr13:32954009 C>CAGTTNM_000059.3c.9076_9077insAGTTp.Q3026fsframeshift insexonPathogenic0.00031/3652MSH6chr2:48027278 C>TNM_000179.2c.2156C>Tp.T719ImissenseexonVUS0.00006663NFE0.00031/3652MLH1chr3:37081755 A>GNM_000249.3c.1637A>Gp.K546RmissenseexonLikely pathogenic0.00031/3652BRCA1chr17:41245330 CT>CNM_007294.3c.2217delAp.K739fsframeshift delexonPathogenic0.00031/3652MSH2chr2:47690245 T>GNM_000251.2c.1462T>Gp.L488VmissenseexonVUS0.00031/3652MLH1chr3:37070330 GA>GNM_000249.3c.1466delAp.E489fsframeshift delexonLikely pathogenic0.00031/3652BRCA1chr17:41244839 A>TNM_007294.3c.2709T>Ap.C903Xstop gainexonPathogenic0.00031/3652CHEK2chr22:29120962 T>ANM_007194.3c.592+3A>Tsplicingsplice siteVUS0.00031/36520.00071/1386PALB2chr16:23641202 G>ANM_024675.3c.2273C>Tp.P758LmissenseexonVUS0.0006EAS0.00031/3652MLH1chr3:37067179 A>CNM_000249.3c.1090A>Cp.T364PmissenseexonVUS0.00031/3652MSH6chr2:48030639 A>ACNM_000179.2c.3254dupCp.T1085fsframeshift insexonPathogenic0.0001AFR0.00031/3652PALB2chr16:23641218 G>ANM_024675.3c.2257C>Tp.R753Xstop gainexonPathogenic0.00031/3652BRCA1chr17:41209068 C>TNM_007294.3c.5277+1G>Asplicingsplice sitePathogenic0.00031/3652BRCA1chr17:41244056 ACTAGTATCTTC>ANM_007294.3c.3481_3491delp.E1161fsframeshift delexonPathogenic0.00031/3652BRCA1chr17:41197774 A>TNM_007294.3c.5513T>Ap.V1838EmissenseexonPathogenic0.00031/3652BRCA1chr17:41226471 G>ANM_007294.3c.4552C>Tp.Q1518Xstop gainexonPathogenic0.00031/3652BRCA2chr13:32914137 C>ANM_000059.3c.5645C>Ap.S1882Xstop gainexonPathogenic0.00031/3652BRCA2chr13:32912353 TAATA>TNM_000059.3c.3862_3865delp.N1288fsframeshift delexonPathogenic0.00031/3652MSH6chr2:48027625 C>GNM_000179.2c.2503C>Gp.Q835EmissenseexonVUS0.00031/3652BRCA1chr17:41244016 TA>TNM_007294.3c.3531delTp.F1177fsframeshift delexonPathogenic0.00031/3652MSH2chr2:47703697 G>ANM_000251.2c.2197G>Ap.A733TmissenseexonVUS0.00031/3652STK11chr19:1218493 A>GNM_000455.4c.368A>Gp.Q123RmissenseexonLikely pathogenic0.00006669NFE0.00031/3652PALB2chr16:23646192 GAATA>GNM_024675.3c.1671_1674delp.F557fsframeshift delexonPathogenic0.00031/3652PMS2chr7:6027209 A>GNM_000535.6c.1187T>Cp.M396TmissenseexonVUS0.00031/3652BRCA1chr17:41226515 GA>GNM_007294.3c.4507delTp.S1503fsframeshift delexonPathogenic0.00031/3652EPCAMchr2:47606093 A>CNM_002354.2c.557A>Cp.Y186SmissenseexonVUS0.00006662NFE0.00031/3652BRCA2chr13:32914109 GTAAT>GNM_000059.3c.5618_5621delp.V1873fsframeshift delexonPathogenic0.00031/3652MSH6chr2:48026015 G>ANM_000179.2c.893G>Ap.R298QmissenseexonVUS0.00031/3652BRCA1chr17:41222939 A>GNM_007294.3c.4986+6T>CsplicingintronPathogenic0.00031/3652BRCA2chr13:32936733 A>TNM_000059.3c.7879A>Tp.I2627FmissenseexonPathogenic0.00031/3652MSH6chr2:48030645 C>TNM_000179.2c.3259C>Tp.P1087SmissenseexonLikely pathogenic0.0003NFE0.00031/3652BRCA2chr13:32918745 G>GANM_000059.3c.6893dupAp.E2298fsframeshift insexonPathogenic0.00031/3652BRCA1chr17:41215890 C>ANM_007294.3c.5152+1G>Tsplicingsplice sitePathogenic0.00031/3652BRCA2chr13:32972852 C>TNM_000059.3c.10202C>Tp.T3401MmissenseexonVUS0.00006668NFE0.00031/3652BRCA2chr13:32929255 G>GACNM_000059.3c.7265_7266insACp.C2422_V2423delinsXstop gainexonPathogenic0.00031/3652BRCA1chr17:41245630 G>ANM_007294.3c.1918C>Tp.Q640Xstop gainexonPathogenic0.00031/3652BRCA2chr13:32912899 CAT>CNM_000059.3c.4408_4409delp.I1470fsframeshift delexonPathogenic0.00031/3652BRCA1chr17:41251880 ACT>ANM_007294.3c.457_458delp.S153fsframeshift delexonPathogenic0.00031/3652BRCA1chr17:41209148 T>ANM_007294.3c.5198A>Tp.D1733VmissenseexonVUS0.00006667NFE0.00031/3652BRCA1chr17:41256249 C>ANM_007294.3c.331G>Tp.E111Xstop gainexonPathogenic0.00031/3652BRCA1chr17:41243788 TAGAC>TNM_007294.3c.3756_3759delp.L1252fsframeshift delexonPathogenic0.00031/3652MLH1chr3:37061923 G>ANM_000249.3c.1007G>Ap.G336DmissenseexonVUS0.00031/3652BRCA2chr13:32954022 C>CANM_000059.3c.9090dupAp.T3030fsframeshift insexonPathogenic0.00031/3652BRCA1chr17:41276061 A>GNM_007294.3c.53T>Cp.M18TmissenseexonPathogenic0.00031/3652MLH1chr3:37089175 G>CNM_000249.3c.1896+1G>Csplicingsplice siteLikely pathogenic0.00031/3652BRCA2chr13:32893347 GAAACCATCTTATAATC>GNM_000059.3c.202_217delp.K68fsframeshift delexonPathogenic0.00031/3652MSH6chr2:48026090 C>GNM_000179.2c.968C>Gp.T323SmissenseexonVUS0.00031/3652MSH6chr2:48026603 C>TNM_000179.2c.1481C>Tp.A494VmissenseexonVUS0.00031/3652TP53chr17:7578407 G>ANM_000546.5c.523C>Tp.R175CmissenseexonPathogenic0NFE0.00031/3652MLH1chr3:37090048 A>GNM_000249.3c.1937A>Gp.Y646CmissenseexonLikely pathogenic0.0001AFR0.00031/3652MSH6chr2:48023196 G>TNM_000179.2c.621G>Tp.E207DmissenseexonVUS0.00031/3652BRCA1chr17:41258472 C>TNM_007294.3c.212+1G>Asplicingsplice sitePathogenic0.00031/3652BRCA2chr13:32915112 CAA>CNM_000059.3c.6621_6622delp.T2207fsframeshift delexonPathogenic0.00031/3652EPCAMchr2:47601034 A>TNM_002354.2c.272A>Tp.N91ImissenseexonVUS0.00031/3652BRCA2chr13:32936761 GT>GNM_000059.3c.7908delTp.C2636fsframeshift delexonPathogenic0.00031/3652BRCA2chr13:32905122 G>ANM_000059.3c.748G>Ap.V250MmissenseexonVUS0.00031/3652BRCA1chr17:41244341 TTGAA>TNM_007294.3c.3203_3206delp.I1068fsframeshift delexonPathogenic0.00031/3652BRCA1chr17:41243571 T>TGCCTCATTTGTTTGGAAGAACCAATCAANM_007294.3c.3976_3977insTTGATTGGTTCTTCCAAACAAATGAGGCp.H1326fsframeshift insexonPathogenic0.00031/3652PALB2chr16:23652445 C>GNM_024675.3c.34G>Cp.E12QmissenseexonVUS0.00031/3652CHEK2chr22:29121058 C>TNM_007194.3c.499G>Ap.G167RmissenseexonLikely pathogenic0.00031/3652BRCA2chr13:32921023 G>GTNM_000059.3c.6998dupTp.V2333fsframeshift insexonPathogenic0.00031/3652BRCA2chr13:32911605 AT>ANM_000059.3c.3114delTp.Y1038fsframeshift delexonPathogenic0.00031/3652BRCA2chr13:32914574 GAA>GNM_000059.3c.6083_6084delp.E2028fsframeshift delexonPathogenic0.00031/3652BRCA2chr13:32953534 GT>GNM_000059.3c.8836delTp.L2946fsframeshift delexonPathogenic0.00031/3652MSH6chr2:48027413 C>ANM_000179.2c.2291C>Ap.T764NmissenseexonLikely pathogenic0.0001AFR0.00031/3652MSH6chr2:48026357 A>CNM_000179.2c.1235A>Cp.K412TmissenseexonVUS0.00031/3652MSH6chr2:48027675 CAAG>CNM_000179.2c.2554_2556delp.852_852delin-frame delexonVUS0.00031/3652BRCA2chr13:32890556 CAG>CNM_000059.3r.splsplicingsplice sitePathogenic0.00031/3652MSH2chr2:47639682 C>TNM_000251.2c.775C>Tp.P259SmissenseexonVUS0.00031/3652BRCA2chr13:32900279 A>ATNM_000059.3c.468dupTp.D156fsframeshift insexonPathogenic0.0000666NFE0.00031/3652BRCA2chr13:32968950 G>ANM_000059.3c.9381G>Ap.W3127Xstop gainexonPathogenic0.00031/3652BRCA2chr13:32968835 CT>CNM_000059.3c.9267delTp.P3089fsframeshift delexonPathogenic0.00031/3652RAD51Cchr17:56801398 CAG>CNM_058216.2r.splsplicingsplice sitePathogenic0.00031/3652BRCA2chr13:32906625 A>ATGNM_000059.3c.1010_1011insTGp.N337fsframeshift insexonPathogenic0.00031/3652STK11chr19:1223151 C>ANM_000455.4c.1088C>Ap.T363NmissenseexonVUS0.00031/3652BRCA1chr17:41246073 ATC>ANM_007294.3c.1473_1474delp.Q491fsframeshift delexonPathogenic0.00031/3652BRCA1chr17:41243808 ACGGTGCTATGC>ANM_007294.3c.3729_3739delp.R1243fsframeshift delexonPathogenic0.00031/3652BRCA1chr17:41243821 T>TCNM_007294.3c.3726_3727insGp.R1243fsframeshift insexonPathogenic0.00031/3652RAD51Dchr17:33434399 T>TANM_002878.3c.330dupTp.S111_G112delinsXstop gainexonPathogenic0.00031/3652BRCA1chr17:41226347 C>TNM_007294.3c.4675+1G>Asplicingsplice sitePathogenic0.00031/3652BRCA1chr17:41245210 G>ANM_007294.3c.2338C>Tp.Q780Xstop gainexonPathogenic0.00031/3652BRCA2chr13:32914366 T>ANM_000059.3c.5874T>Ap.C1958Xstop gainexonPathogenic0.00031/3652BRCA1chr17:41243584 T>ANM_007294.3c.3964A>Tp.K1322Xstop gainexonPathogenic0.00031/3652BRCA1chr17:41245968 T>CNM_007294.3c.1580A>Gp.K527RmissenseexonVUS0.00031/3652BRCA2chr13:32954272 GA>GNM_000059.3c.9247delAp.K3083fsframeshift delexonPathogenic0.00031/3652MSH6chr2:48018201 GT>GNM_000179.2c.397delTp.F133fsframeshift delexonLikely pathogenic0.00031/3652BRCA2chr13:32914647 C>GNM_000059.3c.6155C>Gp.S2052Xstop gainexonPathogenic0.00031/3652MSH2chr2:47643484 A>GNM_000251.2c.992A>Gp.N331SmissenseexonVUS0.00031/3652PMS2chr7:6026495 T>CNM_000535.6c.1901A>Gp.H634RmissenseexonVUS0.00031/3652BRCA2chr13:32950854 C>TNM_000059.3c.8680C>Tp.Q2894Xstop gainexonPathogenic0.00031/3652BRCA1chr17:41245861 G>ANM_007294.3c.1687C>Tp.Q563Xstop gainexonPathogenic0.00031/3652BRCA2chr13:32911788 C>ANM_000059.3c.3296C>Ap.S1099Xstop gainexonPathogenic0.00031/3652
Нет совпадений