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Варианты

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Найдено: 244
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 проектеЧастота
в экзомах *
BRCA1chr17:41245210 G>ANM_007294.3c.2338C>Tp.Q780Xstop gainexonPathogenic–0.00021/4852–ATMchr11:108203492 C>TNM_000051.3c.7792C>Tp.R2598Xstop gainexonPathogenic–0.00021/4852–BRCA2chr13:32914366 T>ANM_000059.3c.5874T>Ap.C1958Xstop gainexonPathogenic–0.00021/4852–BRCA1chr17:41243584 T>ANM_007294.3c.3964A>Tp.K1322Xstop gainexonPathogenic–0.00021/4852–BRCA2chr13:32954272 GA>GNM_000059.3c.9247delAp.K3083fsframeshift delexonPathogenic–0.00021/4852–MSH6chr2:48018201 GT>GNM_000179.2c.397delTp.F133fsframeshift delexonLikely pathogenic–0.00021/4852–PMS2chr7:6026495 T>CNM_000535.6c.1901A>Gp.H634RmissenseexonVUS–0.00021/4852–BRCA2chr13:32950854 C>TNM_000059.3c.8680C>Tp.Q2894Xstop gainexonPathogenic–0.00021/4852–BRCA1chr17:41245861 G>ANM_007294.3c.1687C>Tp.Q563Xstop gainexonPathogenic–0.00021/4852–BRCA2chr13:32929413 G>TNM_000059.3c.7423G>Tp.E2475Xstop gainexonLikely pathogenic–0.00021/4852–BRCA2chr13:32914437 GT>GNM_000059.3c.5946delTp.S1982fsframeshift delexonPathogenic0.0002NFE0.00021/4852–BRIP1chr17:59937230 CAACA>CNM_032043.2c.128_131delp.L43fsframeshift delexonPathogenic–0.00021/4852–TP53chr17:7577120 C>TNM_000546.5c.818G>Ap.R273HmissenseexonPathogenic–0.00021/4852–BRCA2chr13:32913729 C>CTNM_000059.3c.5238dupTp.S1746fsframeshift insexonPathogenic–0.00021/4852–BRCA1chr17:41243514 T>TCNM_007294.3c.4033dupGp.E1345fsframeshift insexonPathogenic–0.00021/4852–BRCA1chr17:41245261 ATC>ANM_007294.3c.2285_2286delp.R762fsframeshift delexonPathogenic–0.00021/4852–BRCA2chr13:32914953 ATC>ANM_000059.3c.6462_6463delp.Y2154fsframeshift delexonPathogenic–0.00021/4852–BRCA2chr13:32937671 G>ANM_000059.3c.8331+1G>Asplicingsplice siteLikely pathogenic–0.00021/4852–BRCA2chr13:32912811 AAG>ANM_000059.3c.4320_4321delp.K1440fsframeshift delexonPathogenic–0.00021/4852–TP53chr17:7578190 T>CNM_000546.5c.659A>Gp.Y220CmissenseexonPathogenic–0.00021/4852–BRCA2chr13:32968951 C>TNM_000059.3c.9382C>Tp.R3128Xstop gainexonPathogenic0.0002AFR0.00021/4852–BRCA1chr17:41276111 CATTT>CNM_007294.3c.-2_2delAAATp.Met1fsframeshift delexonPathogenic–0.00021/4852–TP53chr17:7577548 C>TNM_000546.5c.733G>Ap.G245SmissenseexonPathogenic0.0001AFR0.00021/4852–BRCA1chr17:41201183 AC>ANM_007294.4c.5360delp.Cys1787Leufs*6frameshiftexonPathogenic–0.00021/4852–BRCA2chr13:32944641 G>TNM_000059.3c.8434G>Tp.G2812Xstop gainexonPathogenic–0.00021/4852–BRCA2chr13:32900288 G>TNM_000059.3c.475+1G>Tsplicingsplice sitePathogenic–0.00021/4852–BRCA1chr17:41244976 G>ANM_007294.3c.2572C>Tp.Q858Xstop gainexonPathogenic–0.00021/4852–BRCA2chr13:32929238 TCA>TNM_000059.3c.7249_7250delp.H2417fsframeshift delexonPathogenic–0.00021/4852–CHEK2chr22:29121019 G>ANM_007194.4c.538C>Tp.Arg180CysmissenseexonVUS0.0012EAS0.00021/4852–BRCA1chr17:41219642 TG>TNM_007294.3c.5056delCp.H1686fsframeshift delexonPathogenic–0.00021/4852–ATMchr11:108175401 G>ANM_000051.3c.5497-1G>Asplicingsplice sitePathogenic–0.00021/4852–PMS2chr7:6026731 CT>CNM_000535.6c.1664delAp.Q555fsframeshift delexonLikely pathogenic–0.00021/4852–ATMchr11:108129801 T>ANM_000051.3c.2465T>Ap.L822Xstop gainexonPathogenic–0.00021/4852–BRCA1chr17:41215920 G>ANM_007294.4c.5123C>Tp.Ala1708ValmissenseexonVUS0.0001AFR0.00021/4852–PALB2chr16:23625398 C>GNM_024675.3c.3128G>Cp.G1043AmissenseexonVUS–0.00021/4852–BRCA1chr17:41244865 GTTTC>GNM_007294.4c.2679_2682delp.Lys893Asnfs*106frameshiftexonPathogenic–0.00021/4852–BRCA1chr17:41246531 C>CTNM_007294.3c.1016dupAp.K339fsframeshift insexonPathogenic–0.00021/4852–BRCA2chr13:32913684 ATC>ANM_000059.3c.5193_5194delp.H1731fsframeshift delexonPathogenic–0.00021/4852–BRCA2chr13:32913771 C>GNM_000059.3c.5279C>Gp.S1760Xstop gainexonPathogenic–0.00021/4852–ATMchr11:108155007 AG>ANM_000051.3c.3801delGp.E1267fsframeshift delexonPathogenic0.00006669NFE0.00021/4852–BRCA2chr13:32930636 GTCTTTCCACA>GNM_000059.3c.7508_7517delp.V2503fsframeshift delexonPathogenic–0.00021/4852–BRCA2chr13:32907420 GA>GNM_000059.3c.1806delAp.G602fsframeshift delexonPathogenic–0.00021/4852–CHEK2chr22:29091797 G>CNM_007194.3c.1160C>Gp.T387SmissenseexonVUS0.0000666NFE0.00021/4852–BRCA1chr17:41234420 C>ANM_007294.3c.4357+1G>Tsplicingsplice sitePathogenic–0.00021/4852–
Нет совпадений