Войти

Варианты

Найдено: 93

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

BRCA1 chr17:41209079 T>TGNM_007294.3 c.5266dupCp.Q1756fs frameshift insexon Pathogenic 0.0004NFE 0.066987/1301 BRCA1 chr17:41258504 A>CNM_007294.3 c.181T>Gp.C61G missenseexon Pathogenic – 0.00699/1301 BRCA1 chr17:41243512 CT>CNM_007294.3 c.4035delAp.E1345fs frameshift delexon Pathogenic 0.0005NFE 0.00699/1301 BRCA1 chr17:41209095 G>ANM_007294.3 c.5251C>Tp.R1751X stop gainexon Pathogenic 0.0001AFR 0.00547/1301 BRCA1 chr17:41215382 G>ANM_007294.3 c.5161C>Tp.Q1721X stop gainexon Pathogenic – 0.00547/1301 BRCA1 chr17:41245586 CT>CNM_007294.3 c.1961delAp.K654fs frameshift delexon Pathogenic 0.00006673NFE 0.00466/1301 BRCA2 chr13:32912240 G>GANM_000059.3 c.3749dupAp.E1250fs frameshift insexon Pathogenic – 0.00385/1301 BRCA1 chr17:41226348 C>TNM_007294.3 c.4675G>Ap.E1559K missenseexon Pathogenic 0.00006665NFE 0.00385/1301 BRCA2 chr13:32906576 C>CAANM_000059.3 c.961_962insAAp.Q321fs frameshift insexon Pathogenic – 0.00314/1301 BRCA1 chr17:41276044 ACT>ANM_007294.3 c.68_69delp.E23fs frameshift delexon Pathogenic 0NFE 0.00314/1301 BRCA1 chr17:41243843 GTTTAC>GNM_007294.3 c.3700_3704delp.V1234fs frameshift delexon Pathogenic – 0.00314/1301 BRCA2 chr13:32950929 G>ANM_000059.3 c.8754+1G>A splicingsplice site Pathogenic – 0.00314/1301 BRCA2 chr13:32911388 ACT>ANM_000059.3 c.2897_2898delp.T966fs frameshift delexon Pathogenic – 0.00233/1301 BRCA1 chr17:41223242 G>CNM_007294.3 c.4689C>Gp.Y1563X stop gainexon Pathogenic – 0.00233/1301 BRCA1 chr17:41243917 ACT>ANM_007294.3 c.3629_3630delp.E1210fs frameshift delexon Pathogenic – 0.00152/1301 BRCA1 chr17:41234451 G>ANM_007294.3 c.4327C>Tp.R1443X stop gainexon Pathogenic 0.0001AFR 0.00152/1301 BRCA2 chr13:32906915 AAAAG>ANM_000059.3 c.1301_1304delp.K434fs frameshift delexon Pathogenic – 0.00152/1301 BRCA1 chr17:41244404 AC>ANM_007294.3 c.3143delGp.G1048fs frameshift delexon Pathogenic – 0.00152/1301 BRCA1 chr17:41215969 C>TNM_007294.3 c.5075-1G>A splicingsplice site Pathogenic – 0.00152/1301 BRCA2 chr13:32921034 G>ANM_000059.3 c.7007+1G>A splicingsplice site Pathogenic – 0.00152/1301 BRCA1 chr17:41201137 C>GNM_007294.3 c.5406+1G>C splicingsplice site Pathogenic – 0.00152/1301 BRCA2 chr13:32954050 G>ANM_000059.3 c.9117G>Ap.P3039P synonymousexon Pathogenic – 0.00152/1301 BRCA2 chr13:32911297 TAAAC>TNM_000059.3 c.2806_2809delp.K936fs frameshift delexon Pathogenic – 0.00152/1301 BRCA2 chr13:32953959 AT>ANM_000059.3 c.9027delTp.Y3009fs frameshift delexon Pathogenic – 0.00081/1301 BRCA2 chr13:32912171 CTGAA>CNM_000059.3 c.3680_3683delp.L1227fs frameshift delexon Pathogenic – 0.00081/1301 BRCA1 chr17:41243775 TC>TNM_007294.3 c.3772delGp.E1258fs frameshift delexon Pathogenic – 0.00081/1301 BRCA2 chr13:32914766 CTT>CNM_000059.3 c.6275_6276delp.L2092fs frameshift delexon Pathogenic 0.00006671NFE 0.00081/1301 BRCA2 chr13:32914800 C>ANM_000059.3 c.6308C>Ap.S2103X stop gainexon Pathogenic – 0.00081/1301 BRCA1 chr17:41244145 G>ANM_007294.3 c.3403C>Tp.Q1135X stop gainexon Pathogenic – 0.00081/1301 BRCA2 chr13:32914069 T>TANM_000059.3 c.5578dupAp.I1859fs frameshift insexon Pathogenic – 0.00081/1301 BRCA2 chr13:32914939 T>TANM_000059.3 c.6448dupAp.I2149fs frameshift insexon Pathogenic – 0.00081/1301 BRCA2 chr13:32907434 A>TNM_000059.3 c.1819A>Tp.K607X stop gainexon Pathogenic – 0.00081/1301 BRCA2 chr13:32907420 G>GANM_000059.3 c.1806dupAp.G602fs frameshift insexon Pathogenic – 0.00081/1301 BRCA2 chr13:32903604 CTG>CNM_000059.3 c.657_658delp.T219fs frameshift delexon Pathogenic 0.0002AFR 0.00081/1301 BRCA1 chr17:41246037 CG>CNM_007294.3 c.1510delCp.R504fs frameshift delexon Pathogenic – 0.00081/1301 BRCA2 chr13:32932019 G>ANM_000059.3 c.7758G>Ap.W2586X stop gainexon Pathogenic – 0.00081/1301 BRCA2 chr13:32911442 G>GANM_000059.3 c.2951dupAp.E984fs frameshift insexon Pathogenic – 0.00081/1301 BRCA1 chr17:41242952 GCTTTTTAC>GNM_007294.3 c.4185+1_4185+8delGTAAAAAG splicingsplice site Pathogenic – 0.00081/1301 BRCA2 chr13:32906565 C>CANM_000059.3 c.951dupAp.T317fs frameshift insexon Pathogenic – 0.00081/1301 BRCA1 chr17:41246531 CTT>CNM_007294.3 c.1015_1016delp.K339fs frameshift delexon Pathogenic – 0.00081/1301 BRCA1 chr17:41244296 AAGCAT>ANM_007294.3 c.3247_3251delp.M1083fs frameshift delexon Pathogenic – 0.00081/1301 BRCA2 chr13:32954009 C>CAGTTNM_000059.3 c.9076_9077insAGTTp.Q3026fs frameshift insexon Pathogenic – 0.00081/1301 BRCA1 chr17:41245330 CT>CNM_007294.3 c.2217delAp.K739fs frameshift delexon Pathogenic – 0.00081/1301 BRCA1 chr17:41244839 A>TNM_007294.3 c.2709T>Ap.C903X stop gainexon Pathogenic – 0.00081/1301 BRCA1 chr17:41209068 C>TNM_007294.3 c.5277+1G>A splicingsplice site Pathogenic – 0.00081/1301 BRCA1 chr17:41244056 ACTAGTATCTTC>ANM_007294.3 c.3481_3491delp.E1161fs frameshift delexon Pathogenic – 0.00081/1301 BRCA1 chr17:41197774 A>TNM_007294.3 c.5513T>Ap.V1838E missenseexon Pathogenic – 0.00081/1301 BRCA1 chr17:41226471 G>ANM_007294.3 c.4552C>Tp.Q1518X stop gainexon Pathogenic – 0.00081/1301 BRCA2 chr13:32914137 C>ANM_000059.3 c.5645C>Ap.S1882X stop gainexon Pathogenic – 0.00081/1301 BRCA2 chr13:32912353 TAATA>TNM_000059.3 c.3862_3865delp.N1288fs frameshift delexon Pathogenic – 0.00081/1301 BRCA2 chr13:32913778 T>GNM_000059.3 c.5286T>Gp.Y1762X stop gainexon Pathogenic – 0.00081/1301 BRCA1 chr17:41244016 TA>TNM_007294.3 c.3531delTp.F1177fs frameshift delexon Pathogenic – 0.00081/1301 BRCA2 chr13:32910804 T>GNM_000059.3 c.2312T>Gp.L771X stop gainexon Pathogenic 0.00006666NFE 0.00081/1301 BRCA1 chr17:41226515 GA>GNM_007294.3 c.4507delTp.S1503fs frameshift delexon Pathogenic – 0.00081/1301 BRCA2 chr13:32914109 GTAAT>GNM_000059.3 c.5618_5621delp.V1873fs frameshift delexon Pathogenic – 0.00081/1301 BRCA1 chr17:41222939 A>GNM_007294.3 c.4986+6T>C splicingintron Pathogenic – 0.00081/1301 BRCA2 chr13:32936733 A>TNM_000059.3 c.7879A>Tp.I2627F missenseexon Pathogenic – 0.00081/1301 BRCA2 chr13:32918745 G>GANM_000059.3 c.6893dupAp.E2298fs frameshift insexon Pathogenic – 0.00081/1301 BRCA1 chr17:41215890 C>ANM_007294.3 c.5152+1G>T splicingsplice site Pathogenic – 0.00081/1301 BRCA2 chr13:32972852 C>TNM_000059.3 c.10202C>Tp.T3401M missenseexon VUS 0.00006668NFE 0.00081/1301 BRCA2 chr13:32929255 G>GACNM_000059.3 c.7265_7266insACp.C2422_V2423delinsX stop gainexon Pathogenic – 0.00081/1301 BRCA1 chr17:41245630 G>ANM_007294.3 c.1918C>Tp.Q640X stop gainexon Pathogenic – 0.00081/1301 BRCA2 chr13:32912899 CAT>CNM_000059.3 c.4408_4409delp.I1470fs frameshift delexon Pathogenic – 0.00081/1301 BRCA1 chr17:41251880 ACT>ANM_007294.3 c.457_458delp.S153fs frameshift delexon Pathogenic – 0.00081/1301 BRCA1 chr17:41209148 T>ANM_007294.3 c.5198A>Tp.D1733V missenseexon VUS 0.00006667NFE 0.00081/1301 BRCA1 chr17:41243941 G>ANM_007294.3 c.3607C>Tp.R1203X stop gainexon Pathogenic – 0.00081/1301 BRCA1 chr17:41256249 C>ANM_007294.3 c.331G>Tp.E111X stop gainexon Pathogenic – 0.00081/1301 BRCA1 chr17:41243788 TAGAC>TNM_007294.3 c.3756_3759delp.L1252fs frameshift delexon Pathogenic – 0.00081/1301 BRCA2 chr13:32954022 C>CANM_000059.3 c.9090dupAp.T3030fs frameshift insexon Pathogenic – 0.00081/1301 BRCA1 chr17:41276061 A>GNM_007294.3 c.53T>Cp.M18T missenseexon Pathogenic – 0.00081/1301 BRCA2 chr13:32893347 GAAACCATCTTATAATC>GNM_000059.3 c.202_217delp.K68fs frameshift delexon Pathogenic – 0.00081/1301 BRCA1 chr17:41258472 C>TNM_007294.3 c.212+1G>A splicingsplice site Pathogenic – 0.00081/1301 BRCA2 chr13:32915112 CAA>CNM_000059.3 c.6621_6622delp.T2207fs frameshift delexon Pathogenic – 0.00081/1301 BRCA2 chr13:32936761 GT>GNM_000059.3 c.7908delTp.C2636fs frameshift delexon Pathogenic – 0.00081/1301 BRCA2 chr13:32905122 G>ANM_000059.3 c.748G>Ap.V250M missenseexon VUS – 0.00081/1301 BRCA1 chr17:41244341 TTGAA>TNM_007294.3 c.3203_3206delp.I1068fs frameshift delexon Pathogenic – 0.00081/1301 BRCA1 chr17:41243571 T>TGCCTCATTTGTTTGGAAGAACCAATCAANM_007294.3 c.3976_3977insTTGATTGGTTCTTCCAAACAAATGAGGCp.H1326fs frameshift insexon Pathogenic – 0.00081/1301 BRCA2 chr13:32921023 G>GTNM_000059.3 c.6998dupTp.V2333fs frameshift insexon Pathogenic – 0.00081/1301 BRCA2 chr13:32911605 AT>ANM_000059.3 c.3114delTp.Y1038fs frameshift delexon Pathogenic – 0.00081/1301 BRCA2 chr13:32914574 GAA>GNM_000059.3 c.6083_6084delp.E2028fs frameshift delexon Pathogenic – 0.00081/1301 BRCA2 chr13:32953534 GT>GNM_000059.3 c.8836delTp.L2946fs frameshift delexon Pathogenic – 0.00081/1301 BRCA2 chr13:32890556 CAG>CNM_000059.3 r.spl splicingsplice site Pathogenic – 0.00081/1301 BRCA2 chr13:32906625 A>ATGNM_000059.3 c.1010_1011insTGp.N337fs frameshift insexon Pathogenic – 0.00081/1301 BRCA1 chr17:41276047 C>CTNM_007294.3 c.66dupAp.E23fs frameshift insexon Pathogenic – 0.00081/1301 BRCA1 chr17:41246073 ATC>ANM_007294.3 c.1473_1474delp.Q491fs frameshift delexon Pathogenic – 0.00081/1301 BRCA1 chr17:41226347 C>TNM_007294.3 c.4675+1G>A splicingsplice site Pathogenic – 0.00081/1301 BRCA1 chr17:41245210 G>ANM_007294.3 c.2338C>Tp.Q780X stop gainexon Pathogenic – 0.00081/1301 BRCA2 chr13:32914366 T>ANM_000059.3 c.5874T>Ap.C1958X stop gainexon Pathogenic – 0.00081/1301 BRCA1 chr17:41243584 T>ANM_007294.3 c.3964A>Tp.K1322X stop gainexon Pathogenic – 0.00081/1301 BRCA1 chr17:41245968 T>CNM_007294.3 c.1580A>Gp.K527R missenseexon VUS – 0.00081/1301 BRCA2 chr13:32954272 GA>GNM_000059.3 c.9247delAp.K3083fs frameshift delexon Pathogenic – 0.00081/1301 BRCA2 chr13:32907408 CATCTT>CNM_000059.3 c.1794_1798delp.T598fs frameshift delexon Pathogenic – 0.00081/1301 BRCA2 chr13:32914647 C>GNM_000059.3 c.6155C>Gp.S2052X stop gainexon Pathogenic – 0.00081/1301

Нет совпадений