Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43090942_43094828del | CA2499224437 | BRCA1 | c.705_4185+4del c.579_4059+4del c.702_4182+4del c.627_4107+4del c.702_873+4del c.564_735+4del c.-184_3297+4del c.582_4062+4del c.564_4044+4del c.582_753+4del c.624_795+4del c.670+1020_759+4del c.*488_*3968+4del c.705_876+4del c.327_498+4del c.330_501+4del c.4+30356_5-26989del (n.4+30356_5-26989del) c.-43-20305_-43-16419del (n.-43-20305_-43-16419del) c.-99+30445_-99+34331del (n.-99+30445_-99+34331del) n.841_4321+4del n.882_4362+4del | ClinVar |
17 | g.43090940_43097286del | CA2832429649 | BRCA1 | c.551_4185+4del c.545-2426_4059+4del c.548_4182+4del c.473_4107+4del c.548_873+4del c.410_735+4del c.-218-2426_3297+4del c.548-2426_4062+4del c.410_4044+4del c.548-2426_753+4del c.470_795+4del c.551_759+4del c.*334_*3968+4del c.551_876+4del c.293-2426_498+4del c.296-2426_501+4del c.4+27896_5-26989del (n.4+27896_5-26989del) c.-43-22765_-43-16419del (n.-43-22765_-43-16419del) c.-99+27985_-99+34331del (n.-99+27985_-99+34331del) n.687_4321+4del n.728_4362+4del | |
17 | g.43090942_43097288del | CA2837995523 | BRCA1 | c.550_4185+3del c.545-2427_4059+3del c.547_4182+3del c.472_4107+3del c.547_873+3del c.409_735+3del c.-218-2427_3297+3del c.548-2427_4062+3del c.409_4044+3del c.548-2427_753+3del c.469_795+3del c.550_759+3del c.*333_*3968+3del c.550_876+3del c.293-2427_498+3del c.296-2427_501+3del c.4+27895_5-26990del (n.4+27895_5-26990del) c.-43-22766_-43-16420del (n.-43-22766_-43-16420del) c.-99+27984_-99+34330del (n.-99+27984_-99+34330del) n.686_4321+3del n.727_4362+3del | |
17 | g.43090944_43097290del | CA2832429628 | BRCA1 | c.548_4185+1del c.545-2429_4059+1del c.545_4182+1del c.470_4107+1del c.545_873+1del c.407_735+1del c.-218-2429_3297+1del c.548-2429_4062+1del c.407_4044+1del c.548-2429_753+1del c.467_795+1del c.548_759+1del c.*331_*3968+1del c.548_876+1del c.293-2429_498+1del c.296-2429_501+1del c.4+27893_5-26992del (n.4+27893_5-26992del) c.-43-22768_-43-16422del (n.-43-22768_-43-16422del) c.-99+27982_-99+34328del (n.-99+27982_-99+34328del) n.684_4321+1del n.725_4362+1del | |
17 | g.43090946_43097291del | CA2580061395 | BRCA1 | c.549_4185+1del c.545-2428_4059+1del c.546_4182+1del c.471_4107+1del c.546_873+1del c.408_735+1del c.-218-2428_3297+1del c.548-2428_4062+1del c.408_4044+1del c.548-2428_753+1del c.468_795+1del c.549_759+1del c.*332_*3968+1del c.549_876+1del c.293-2428_498+1del c.296-2428_501+1del c.4+27894_5-26992del (n.4+27894_5-26992del) c.-43-22767_-43-16422del (n.-43-22767_-43-16422del) c.-99+27983_-99+34328del (n.-99+27983_-99+34328del) n.685_4321+1del n.726_4362+1del | |
17 | g.43091435_43094858dup | CA2579756134 | BRCA1 | n.738_4161dup c.674_4096+1dup c.548_3970+1dup c.671_4093+1dup c.596_4018+1dup c.671_785-402dup c.533_647-402dup c.-215_3208+1dup c.551_3973+1dup c.533_3955+1dup c.551_665-402dup c.593_707-402dup c.670+989_671-402dup (n.670+989_671-402dup) c.674_4097dup (p.Ile1367LeufsTer2) c.*457_*3879+1dup c.674_788-402dup c.296_410-402dup c.299_413-402dup c.4+30325_5-27483dup (n.4+30325_5-27483dup) c.-43-20336_-43-16913dup (n.-43-20336_-43-16913dup) c.-99+30414_-99+33837dup (n.-99+30414_-99+33837dup) n.810_4232+1dup n.851_4273+1dup | |
17 | g.43091435_43094859dup | CA2579756133 | BRCA1 | n.736_4160dup c.672_4096dup (p.Gly1366ValfsTer10) c.546_3970dup (p.Gly1324ValfsTer10) c.669_4093dup (p.Gly1365ValfsTer10) c.594_4018dup (p.Gly1340ValfsTer10) c.669_785-403dup c.531_647-403dup c.-217_3208dup (p.Gly1070ValfsTer10) c.549_3973dup (p.Gly1325ValfsTer10) c.531_3955dup (p.Gly1319ValfsTer10) c.549_665-403dup c.591_707-403dup c.670+987_671-403dup (n.670+987_671-403dup) c.*455_*3879dup (n.*455_*3879dup) c.672_788-403dup c.294_410-403dup c.297_413-403dup c.4+30323_5-27484dup (n.4+30323_5-27484dup) c.-43-20338_-43-16914dup (n.-43-20338_-43-16914dup) c.-99+30412_-99+33836dup (n.-99+30412_-99+33836dup) n.808_4232dup n.849_4273dup | |
17 | g.43091437_43094862del | CA2580618251 | BRCA1 | n.735_4160del c.671_4096del c.545_3970del c.668_4093del c.593_4018del c.668_785-403del c.530_647-403del c.-218_3208del c.548_3973del c.530_3955del c.548_665-403del c.590_707-403del c.670+986_671-403del (n.670+986_671-403del) c.*454_*3879del c.671_788-403del c.293_410-403del c.296_413-403del c.4+30322_5-27484del (n.4+30322_5-27484del) c.-43-20339_-43-16914del (n.-43-20339_-43-16914del) c.-99+30411_-99+33836del (n.-99+30411_-99+33836del) n.807_4232del n.848_4273del | |
17 | g.43091633_43094861del | CA2580618250 | BRCA1 | n.736_3964del c.672_3900del c.546_3774del c.669_3897del c.594_3822del c.669_785-599del c.531_647-599del c.-217_3012del c.549_3777del c.531_3759del c.549_665-599del c.591_707-599del c.670+987_671-599del (n.670+987_671-599del) c.*455_*3683del c.672_788-599del c.294_410-599del c.297_413-599del c.4+30323_5-27680del (n.4+30323_5-27680del) c.-43-20338_-43-17110del (n.-43-20338_-43-17110del) c.-99+30412_-99+33640del (n.-99+30412_-99+33640del) n.808_4036del n.849_4077del | |
17 | g.43093751_43094887del | CA10602596 | BRCA1 | n.735-26_1845del c.671-26_1781del c.545-26_1655del c.668-26_1778del c.593-26_1703del c.668-26_784+994del c.530-26_646+994del c.-218-26_893del c.548-26_1658del c.530-26_1640del c.548-26_664+994del c.590-26_706+994del c.670+960_670+2096del (n.670+960_670+2096del) c.22-26_1132del c.*454-26_*1564del c.671-26_787+994del c.293-26_409+994del c.296-26_412+994del c.4+30296_5-29799del (n.4+30296_5-29799del) c.-43-20365_-43-19229del (n.-43-20365_-43-19229del) c.-99+30385_-99+31521del (n.-99+30385_-99+31521del) n.807-26_1917del n.848-26_1958del | ClinVar |
17 | g.43093861_43094860del | CA2824998282 | BRCA1 | n.735_1734del c.671_1670del (p.Ala224GlufsTer15) c.545_1544del (p.Ala182GlufsTer15) c.668_1667del (p.Ala223GlufsTer15) c.593_1592del (p.Ala198GlufsTer15) c.668_784+883del c.530_646+883del c.-218_782del c.548_1547del (p.Ala183GlufsTer15) c.530_1529del (p.Ala177GlufsTer15) c.548_664+883del c.590_706+883del c.670+986_670+1985del (n.670+986_670+1985del) c.22_1021del c.*454_*1453del (n.*454_*1453del) c.671_787+883del c.293_409+883del c.296_412+883del c.4+30322_5-29910del (n.4+30322_5-29910del) c.-43-20339_-43-19340del (n.-43-20339_-43-19340del) c.-99+30411_-99+31410del (n.-99+30411_-99+31410del) n.807_1806del n.848_1847del | |
17 | g.43093862_43094860dup | CA2824998284 | BRCA1 | n.736_1734dup c.672_1670dup (p.Thr557_Lys558insAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlySerSerValSerAsnLeuHisValGluProCysGlyThrAsnThrHisAlaSerSerLeuGlnHisGluAsnSerSerLeuLeuLeuThrLysAspArgMetAsnValGluLysAlaGluPheCysAsnLysSerLysGlnProGlyLeuAlaArgSerGlnHisAsnArgTrpAlaGlySerLysGluThrCysAsnAspArgArgThrProSerThrGluLysLysValAspLeuAsnAlaAspProLeuCysGluArgLysGluTrpAsnLysGlnLysLeuProCysSerGluAsnProArgAspThrGluAspValProTrpIleThrLeuAsnSerSerIleGlnLysValAsnGluTrpPheSerArgSerAspGluLeuLeuGlySerAspAspSerHisAspGlyGluSerGluSerAsnAlaLysValAlaAspValLeuAspValLeuAsnGluValAspGluTyrSerGlySerSerGluLysIleAspLeuLeuAlaSerAspProHisGluAlaLeuIleCysLysSerGluArgValHisSerLysSerValGluSerAsnIleGluAspLysIlePheGlyLysThrTyrArgLysLysAlaSerLeuProAsnLeuSerHisValThrGluAsnLeuIleIleGlyAlaPheValThrGluProGlnIleIleGlnGluArgProLeuThrAsnLysLeuLysArgLysArgArgProThrSerGlyLeuHisProGluAspPheIleLysLysAlaAspLeuAlaValGlnLysThrProGluMetIleAsnGlnGlyThrAsnGlnThrGluGlnAsnGlyGlnValMetAsnIleThrAsnSerGlyHisGluAsnLysThr) c.546_1544dup (p.Thr515_Lys516insAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlySerSerValSerAsnLeuHisValGluProCysGlyThrAsnThrHisAlaSerSerLeuGlnHisGluAsnSerSerLeuLeuLeuThrLysAspArgMetAsnValGluLysAlaGluPheCysAsnLysSerLysGlnProGlyLeuAlaArgSerGlnHisAsnArgTrpAlaGlySerLysGluThrCysAsnAspArgArgThrProSerThrGluLysLysValAspLeuAsnAlaAspProLeuCysGluArgLysGluTrpAsnLysGlnLysLeuProCysSerGluAsnProArgAspThrGluAspValProTrpIleThrLeuAsnSerSerIleGlnLysValAsnGluTrpPheSerArgSerAspGluLeuLeuGlySerAspAspSerHisAspGlyGluSerGluSerAsnAlaLysValAlaAspValLeuAspValLeuAsnGluValAspGluTyrSerGlySerSerGluLysIleAspLeuLeuAlaSerAspProHisGluAlaLeuIleCysLysSerGluArgValHisSerLysSerValGluSerAsnIleGluAspLysIlePheGlyLysThrTyrArgLysLysAlaSerLeuProAsnLeuSerHisValThrGluAsnLeuIleIleGlyAlaPheValThrGluProGlnIleIleGlnGluArgProLeuThrAsnLysLeuLysArgLysArgArgProThrSerGlyLeuHisProGluAspPheIleLysLysAlaAspLeuAlaValGlnLysThrProGluMetIleAsnGlnGlyThrAsnGlnThrGluGlnAsnGlyGlnValMetAsnIleThrAsnSerGlyHisGluAsnLysThr) c.669_1667dup (p.Thr556_Lys557insAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlySerSerValSerAsnLeuHisValGluProCysGlyThrAsnThrHisAlaSerSerLeuGlnHisGluAsnSerSerLeuLeuLeuThrLysAspArgMetAsnValGluLysAlaGluPheCysAsnLysSerLysGlnProGlyLeuAlaArgSerGlnHisAsnArgTrpAlaGlySerLysGluThrCysAsnAspArgArgThrProSerThrGluLysLysValAspLeuAsnAlaAspProLeuCysGluArgLysGluTrpAsnLysGlnLysLeuProCysSerGluAsnProArgAspThrGluAspValProTrpIleThrLeuAsnSerSerIleGlnLysValAsnGluTrpPheSerArgSerAspGluLeuLeuGlySerAspAspSerHisAspGlyGluSerGluSerAsnAlaLysValAlaAspValLeuAspValLeuAsnGluValAspGluTyrSerGlySerSerGluLysIleAspLeuLeuAlaSerAspProHisGluAlaLeuIleCysLysSerGluArgValHisSerLysSerValGluSerAsnIleGluAspLysIlePheGlyLysThrTyrArgLysLysAlaSerLeuProAsnLeuSerHisValThrGluAsnLeuIleIleGlyAlaPheValThrGluProGlnIleIleGlnGluArgProLeuThrAsnLysLeuLysArgLysArgArgProThrSerGlyLeuHisProGluAspPheIleLysLysAlaAspLeuAlaValGlnLysThrProGluMetIleAsnGlnGlyThrAsnGlnThrGluGlnAsnGlyGlnValMetAsnIleThrAsnSerGlyHisGluAsnLysThr) c.594_1592dup (p.Thr531_Lys532insAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlySerSerValSerAsnLeuHisValGluProCysGlyThrAsnThrHisAlaSerSerLeuGlnHisGluAsnSerSerLeuLeuLeuThrLysAspArgMetAsnValGluLysAlaGluPheCysAsnLysSerLysGlnProGlyLeuAlaArgSerGlnHisAsnArgTrpAlaGlySerLysGluThrCysAsnAspArgArgThrProSerThrGluLysLysValAspLeuAsnAlaAspProLeuCysGluArgLysGluTrpAsnLysGlnLysLeuProCysSerGluAsnProArgAspThrGluAspValProTrpIleThrLeuAsnSerSerIleGlnLysValAsnGluTrpPheSerArgSerAspGluLeuLeuGlySerAspAspSerHisAspGlyGluSerGluSerAsnAlaLysValAlaAspValLeuAspValLeuAsnGluValAspGluTyrSerGlySerSerGluLysIleAspLeuLeuAlaSerAspProHisGluAlaLeuIleCysLysSerGluArgValHisSerLysSerValGluSerAsnIleGluAspLysIlePheGlyLysThrTyrArgLysLysAlaSerLeuProAsnLeuSerHisValThrGluAsnLeuIleIleGlyAlaPheValThrGluProGlnIleIleGlnGluArgProLeuThrAsnLysLeuLysArgLysArgArgProThrSerGlyLeuHisProGluAspPheIleLysLysAlaAspLeuAlaValGlnLysThrProGluMetIleAsnGlnGlyThrAsnGlnThrGluGlnAsnGlyGlnValMetAsnIleThrAsnSerGlyHisGluAsnLysThr) c.669_784+883dup c.531_646+883dup c.-217_782dup (p.Thr261_Lys262insAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlySerSerValSerAsnLeuHisValGluProCysGlyThrAsnThrHisAlaSerSerLeuGlnHisGluAsnSerSerLeuLeuLeuThrLysAspArgMetAsnValGluLysAlaGluPheCysAsnLysSerLysGlnProGlyLeuAlaArgSerGlnHisAsnArgTrpAlaGlySerLysGluThrCysAsnAspArgArgThrProSerThrGluLysLysValAspLeuAsnAlaAspProLeuCysGluArgLysGluTrpAsnLysGlnLysLeuProCysSerGluAsnProArgAspThrGluAspValProTrpIleThrLeuAsnSerSerIleGlnLysValAsnGluTrpPheSerArgSerAspGluLeuLeuGlySerAspAspSerHisAspGlyGluSerGluSerAsnAlaLysValAlaAspValLeuAspValLeuAsnGluValAspGluTyrSerGlySerSerGluLysIleAspLeuLeuAlaSerAspProHisGluAlaLeuIleCysLysSerGluArgValHisSerLysSerValGluSerAsnIleGluAspLysIlePheGlyLysThrTyrArgLysLysAlaSerLeuProAsnLeuSerHisValThrGluAsnLeuIleIleGlyAlaPheValThrGluProGlnIleIleGlnGluArgProLeuThrAsnLysLeuLysArgLysArgArgProThrSerGlyLeuHisProGluAspPheIleLysLysAlaAspLeuAlaValGlnLysThrProGluMetIleAsnGlnGlyThrAsnGlnThrGluGlnAsnGlyGlnValMetAsnIleThrAsnSerGlyHisGluAsnLysThr) c.549_1547dup (p.Thr516_Lys517insAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlySerSerValSerAsnLeuHisValGluProCysGlyThrAsnThrHisAlaSerSerLeuGlnHisGluAsnSerSerLeuLeuLeuThrLysAspArgMetAsnValGluLysAlaGluPheCysAsnLysSerLysGlnProGlyLeuAlaArgSerGlnHisAsnArgTrpAlaGlySerLysGluThrCysAsnAspArgArgThrProSerThrGluLysLysValAspLeuAsnAlaAspProLeuCysGluArgLysGluTrpAsnLysGlnLysLeuProCysSerGluAsnProArgAspThrGluAspValProTrpIleThrLeuAsnSerSerIleGlnLysValAsnGluTrpPheSerArgSerAspGluLeuLeuGlySerAspAspSerHisAspGlyGluSerGluSerAsnAlaLysValAlaAspValLeuAspValLeuAsnGluValAspGluTyrSerGlySerSerGluLysIleAspLeuLeuAlaSerAspProHisGluAlaLeuIleCysLysSerGluArgValHisSerLysSerValGluSerAsnIleGluAspLysIlePheGlyLysThrTyrArgLysLysAlaSerLeuProAsnLeuSerHisValThrGluAsnLeuIleIleGlyAlaPheValThrGluProGlnIleIleGlnGluArgProLeuThrAsnLysLeuLysArgLysArgArgProThrSerGlyLeuHisProGluAspPheIleLysLysAlaAspLeuAlaValGlnLysThrProGluMetIleAsnGlnGlyThrAsnGlnThrGluGlnAsnGlyGlnValMetAsnIleThrAsnSerGlyHisGluAsnLysThr) c.531_1529dup (p.Thr510_Lys511insAlaCysGluPheSerGluThrAspValThrAsnThrGluHisHisGlnProSerAsnAsnAspLeuAsnThrThrGluLysArgAlaAlaGluArgHisProGluLysTyrGlnGlySerSerValSerAsnLeuHisValGluProCysGlyThrAsnThrHisAlaSerSerLeuGlnHisGluAsnSerSerLeuLeuLeuThrLysAspArgMetAsnValGluLysAlaGluPheCysAsnLysSerLysGlnProGlyLeuAlaArgSerGlnHisAsnArgTrpAlaGlySerLysGluThrCysAsnAspArgArgThrProSerThrGluLysLysValAspLeuAsnAlaAspProLeuCysGluArgLysGluTrpAsnLysGlnLysLeuProCysSerGluAsnProArgAspThrGluAspValProTrpIleThrLeuAsnSerSerIleGlnLysValAsnGluTrpPheSerArgSerAspGluLeuLeuGlySerAspAspSerHisAspGlyGluSerGluSerAsnAlaLysValAlaAspValLeuAspValLeuAsnGluValAspGluTyrSerGlySerSerGluLysIleAspLeuLeuAlaSerAspProHisGluAlaLeuIleCysLysSerGluArgValHisSerLysSerValGluSerAsnIleGluAspLysIlePheGlyLysThrTyrArgLysLysAlaSerLeuProAsnLeuSerHisValThrGluAsnLeuIleIleGlyAlaPheValThrGluProGlnIleIleGlnGluArgProLeuThrAsnLysLeuLysArgLysArgArgProThrSerGlyLeuHisProGluAspPheIleLysLysAlaAspLeuAlaValGlnLysThrProGluMetIleAsnGlnGlyThrAsnGlnThrGluGlnAsnGlyGlnValMetAsnIleThrAsnSerGlyHisGluAsnLysThr) c.549_664+883dup c.591_706+883dup c.670+987_670+1985dup (n.670+987_670+1985dup) c.23_1021dup c.*455_*1453dup (n.*455_*1453dup) c.672_787+883dup c.294_409+883dup c.297_412+883dup c.4+30323_5-29910dup (n.4+30323_5-29910dup) c.-43-20338_-43-19340dup (n.-43-20338_-43-19340dup) c.-99+30412_-99+31410dup (n.-99+30412_-99+31410dup) n.808_1806dup n.849_1847dup | |
17 | g.43093861_43094860dup | CA2824998283 | BRCA1 | n.735_1734dup c.671_1670dup (p.Lys558CysfsTer3) c.545_1544dup (p.Lys516CysfsTer3) c.668_1667dup (p.Lys557CysfsTer3) c.593_1592dup (p.Lys532CysfsTer3) c.668_784+883dup c.530_646+883dup c.-218_782dup (p.Lys262CysfsTer3) c.548_1547dup (p.Lys517CysfsTer3) c.530_1529dup (p.Lys511CysfsTer3) c.548_664+883dup c.590_706+883dup c.670+986_670+1985dup (n.670+986_670+1985dup) c.22_1021dup c.*454_*1453dup (n.*454_*1453dup) c.671_787+883dup c.293_409+883dup c.296_412+883dup c.4+30322_5-29910dup (n.4+30322_5-29910dup) c.-43-20339_-43-19340dup (n.-43-20339_-43-19340dup) c.-99+30411_-99+31410dup (n.-99+30411_-99+31410dup) n.807_1806dup n.848_1847dup | |
17 | g.43093862_43094860del | CA2824998285 | BRCA1 | n.736_1734del c.672_1670del (p.Ala225_Thr557del) c.546_1544del (p.Ala183_Thr515del) c.669_1667del (p.Ala224_Thr556del) c.594_1592del (p.Ala199_Thr531del) c.669_784+883del c.531_646+883del c.-217_782del c.549_1547del (p.Ala184_Thr516del) c.531_1529del (p.Ala178_Thr510del) c.549_664+883del c.591_706+883del c.670+987_670+1985del (n.670+987_670+1985del) c.23_1021del c.*455_*1453del (n.*455_*1453del) c.672_787+883del c.294_409+883del c.297_412+883del c.4+30323_5-29910del (n.4+30323_5-29910del) c.-43-20338_-43-19340del (n.-43-20338_-43-19340del) c.-99+30412_-99+31410del (n.-99+30412_-99+31410del) n.808_1806del n.849_1847del | |
17 | g.43093863_43094860del | CA2824998287 | BRCA1 | n.735_1732del c.671_1668del (p.Ala224AspfsTer4) c.545_1542del (p.Ala182AspfsTer4) c.668_1665del (p.Ala223AspfsTer4) c.593_1590del (p.Ala198AspfsTer4) c.668_784+881del c.530_646+881del c.-218_780del c.548_1545del (p.Ala183AspfsTer4) c.530_1527del (p.Ala177AspfsTer4) c.548_664+881del c.590_706+881del c.670+986_670+1983del (n.670+986_670+1983del) c.22_1019del c.*454_*1451del (n.*454_*1451del) c.671_787+881del c.293_409+881del c.296_412+881del c.4+30322_5-29912del (n.4+30322_5-29912del) c.-43-20339_-43-19342del (n.-43-20339_-43-19342del) c.-99+30411_-99+31408del (n.-99+30411_-99+31408del) n.807_1804del n.848_1845del | |
17 | g.43093863_43094860dup | CA2824998289 | BRCA1 | n.735_1732dup c.671_1668dup (p.Thr557LeufsTer10) c.545_1542dup (p.Thr515LeufsTer10) c.668_1665dup (p.Thr556LeufsTer10) c.593_1590dup (p.Thr531LeufsTer10) c.668_784+881dup c.530_646+881dup c.-218_780dup (p.Thr261LeufsTer10) c.548_1545dup (p.Thr516LeufsTer10) c.530_1527dup (p.Thr510LeufsTer10) c.548_664+881dup c.590_706+881dup c.670+986_670+1983dup (n.670+986_670+1983dup) c.22_1019dup c.*454_*1451dup (n.*454_*1451dup) c.671_787+881dup c.293_409+881dup c.296_412+881dup c.4+30322_5-29912dup (n.4+30322_5-29912dup) c.-43-20339_-43-19342dup (n.-43-20339_-43-19342dup) c.-99+30411_-99+31408dup (n.-99+30411_-99+31408dup) n.807_1804dup n.848_1845dup | |
17 | g.43093864_43094860del | CA2824998286 | BRCA1 | n.735_1731del c.671_1667del (p.Ala224GlufsTer16) c.545_1541del (p.Ala182GlufsTer16) c.668_1664del (p.Ala223GlufsTer16) c.593_1589del (p.Ala198GlufsTer16) c.668_784+880del c.530_646+880del c.-218_779del c.548_1544del (p.Ala183GlufsTer16) c.530_1526del (p.Ala177GlufsTer16) c.548_664+880del c.590_706+880del c.670+986_670+1982del (n.670+986_670+1982del) c.22_1018del c.*454_*1450del (n.*454_*1450del) c.671_787+880del c.293_409+880del c.296_412+880del c.4+30322_5-29913del (n.4+30322_5-29913del) c.-43-20339_-43-19343del (n.-43-20339_-43-19343del) c.-99+30411_-99+31407del (n.-99+30411_-99+31407del) n.807_1803del n.848_1844del | |
17 | g.43093881_43094860dup | CA2580618106 | BRCA1 | n.735_1714dup c.671_1650dup (p.Ser551LeufsTer10) c.545_1524dup (p.Ser509LeufsTer10) c.668_1647dup (p.Ser550LeufsTer10) c.593_1572dup (p.Ser525LeufsTer10) c.668_784+863dup c.530_646+863dup c.-218_762dup (p.Ser255LeufsTer10) c.548_1527dup (p.Ser510LeufsTer10) c.530_1509dup (p.Ser504LeufsTer10) c.548_664+863dup c.590_706+863dup c.670+986_670+1965dup (n.670+986_670+1965dup) c.22_1001dup c.*454_*1433dup (n.*454_*1433dup) c.671_787+863dup c.293_409+863dup c.296_412+863dup c.4+30322_5-29930dup (n.4+30322_5-29930dup) c.-43-20339_-43-19360dup (n.-43-20339_-43-19360dup) c.-99+30411_-99+31390dup (n.-99+30411_-99+31390dup) n.807_1786dup n.848_1827dup | |
17 | g.43094311_43094354delinsGCATTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAA | CA2260784808 | BRCA1 | n.1241_1284delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC c.1177_1220delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (p.Leu393=) c.1051_1094delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (p.Leu351=) c.1174_1217delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (p.Leu392=) c.1099_1142delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (p.Leu367=) c.784+390_784+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.784+390_784+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC) c.646+390_646+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.646+390_646+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC) c.289_332delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (p.Leu97=) c.1054_1097delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (p.Leu352=) c.1036_1079delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (p.Leu346=) c.664+390_664+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.664+390_664+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC) c.706+390_706+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.706+390_706+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC) c.*1185_*1228delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.*1185_*1228delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC) c.670+1492_670+1535delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.670+1492_670+1535delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC) c.528_571delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC c.*960_*1003delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.*960_*1003delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC) c.787+390_787+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.787+390_787+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC) c.774_817delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC c.409+390_409+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.409+390_409+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC) c.412+390_412+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.412+390_412+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC) c.*1113_*1156delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.*1113_*1156delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC) c.5-30403_5-30360delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.5-30403_5-30360delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC) c.-43-19833_-43-19790delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.-43-19833_-43-19790delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC) c.-99+30917_-99+30960delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.-99+30917_-99+30960delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC) n.1313_1356delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC n.1354_1397delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC | |
17 | g.43094312_43094356delinsCATTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA | CA2260784810 | BRCA1 | n.1239_1283delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG c.1175_1219delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (p.Leu392=) c.1049_1093delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (p.Leu350=) c.1172_1216delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (p.Leu391=) c.1097_1141delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (p.Leu366=) c.784+388_784+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.784+388_784+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG) c.646+388_646+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.646+388_646+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG) c.287_331delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (p.Leu96=) c.1052_1096delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (p.Leu351=) c.1034_1078delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (p.Leu345=) c.664+388_664+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.664+388_664+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG) c.706+388_706+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.706+388_706+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG) c.*1183_*1227delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.*1183_*1227delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG) c.670+1490_670+1534delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.670+1490_670+1534delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG) c.526_570delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG c.*958_*1002delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.*958_*1002delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG) c.787+388_787+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.787+388_787+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG) c.772_816delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG c.409+388_409+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.409+388_409+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG) c.412+388_412+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.412+388_412+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG) c.*1111_*1155delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.*1111_*1155delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG) c.5-30405_5-30361delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.5-30405_5-30361delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG) c.-43-19835_-43-19791delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.-43-19835_-43-19791delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG) c.-99+30915_-99+30959delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.-99+30915_-99+30959delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG) n.1311_1355delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG n.1352_1396delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG | |
17 | g.43094314_43094356del | CA000780 | BRCA1 | n.1241_1283del c.1177_1219del (p.Leu393ProfsTer3) c.1051_1093del (p.Leu351ProfsTer3) c.1174_1216del (p.Leu392ProfsTer3) c.1099_1141del (p.Leu367ProfsTer3) c.784+390_784+432del (n.784+390_784+432del) c.646+390_646+432del (n.646+390_646+432del) c.289_331del (p.Leu97ProfsTer3) c.1054_1096del (p.Leu352ProfsTer3) c.1036_1078del (p.Leu346ProfsTer3) c.664+390_664+432del (n.664+390_664+432del) c.706+390_706+432del (n.706+390_706+432del) c.*1185_*1227del (n.*1185_*1227del) c.670+1492_670+1534del (n.670+1492_670+1534del) c.528_570del c.*960_*1002del (n.*960_*1002del) c.787+390_787+432del (n.787+390_787+432del) c.774_816del c.409+390_409+432del (n.409+390_409+432del) c.412+390_412+432del (n.412+390_412+432del) c.*1113_*1155del (n.*1113_*1155del) c.5-30403_5-30361del (n.5-30403_5-30361del) c.-43-19833_-43-19791del (n.-43-19833_-43-19791del) c.-99+30917_-99+30959del (n.-99+30917_-99+30959del) n.1313_1355del n.1354_1396del | ClinVar dbSNP |
17 | g.43094313_43094356del | CA000781 | BRCA1 | n.1239_1282del c.1175_1218del (p.Leu392ArgfsTer5) c.1049_1092del (p.Leu350ArgfsTer5) c.1172_1215del (p.Leu391ArgfsTer5) c.1097_1140del (p.Leu366ArgfsTer5) c.784+388_784+431del (n.784+388_784+431del) c.646+388_646+431del (n.646+388_646+431del) c.287_330del (p.Leu96ArgfsTer5) c.1052_1095del (p.Leu351ArgfsTer5) c.1034_1077del (p.Leu345ArgfsTer5) c.664+388_664+431del (n.664+388_664+431del) c.706+388_706+431del (n.706+388_706+431del) c.*1183_*1226del (n.*1183_*1226del) c.670+1490_670+1533del (n.670+1490_670+1533del) c.526_569del c.*958_*1001del (n.*958_*1001del) c.787+388_787+431del (n.787+388_787+431del) c.772_815del c.409+388_409+431del (n.409+388_409+431del) c.412+388_412+431del (n.412+388_412+431del) c.*1111_*1154del (n.*1111_*1154del) c.5-30405_5-30362del (n.5-30405_5-30362del) c.-43-19835_-43-19792del (n.-43-19835_-43-19792del) c.-99+30915_-99+30958del (n.-99+30915_-99+30958del) n.1311_1354del n.1352_1395del | ClinVar dbSNP |
17 | g.43094314_43094356delinsTTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA | CA2260784813 | BRCA1 | n.1239_1281delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA c.1175_1217delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (p.Leu392=) c.1049_1091delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (p.Leu350=) c.1172_1214delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (p.Leu391=) c.1097_1139delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (p.Leu366=) c.784+388_784+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.784+388_784+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA) c.646+388_646+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.646+388_646+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA) c.287_329delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (p.Leu96=) c.1052_1094delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (p.Leu351=) c.1034_1076delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (p.Leu345=) c.664+388_664+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.664+388_664+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA) c.706+388_706+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.706+388_706+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA) c.*1183_*1225delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.*1183_*1225delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA) c.670+1490_670+1532delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.670+1490_670+1532delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA) c.526_568delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA c.*958_*1000delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.*958_*1000delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA) c.787+388_787+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.787+388_787+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA) c.772_814delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA c.409+388_409+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.409+388_409+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA) c.412+388_412+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.412+388_412+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA) c.*1111_*1153delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.*1111_*1153delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA) c.5-30405_5-30363delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.5-30405_5-30363delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA) c.-43-19835_-43-19793delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.-43-19835_-43-19793delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA) c.-99+30915_-99+30957delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.-99+30915_-99+30957delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA) n.1311_1353delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA n.1352_1394delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA | |
17 | g.43094315_43094355delinsTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAAC | CA2260784815 | BRCA1 | n.1240_1280delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA c.1176_1216delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu392=) c.1050_1090delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu350=) c.1173_1213delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu391=) c.1098_1138delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu366=) c.784+389_784+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.784+389_784+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.646+389_646+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.646+389_646+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.288_328delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu96=) c.1053_1093delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu351=) c.1035_1075delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu345=) c.664+389_664+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.664+389_664+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.706+389_706+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.706+389_706+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.*1184_*1224delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.*1184_*1224delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.670+1491_670+1531delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.670+1491_670+1531delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.527_567delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA c.*959_*999delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.*959_*999delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.787+389_787+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.787+389_787+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.773_813delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA c.409+389_409+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.409+389_409+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.412+389_412+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.412+389_412+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.*1112_*1152delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.*1112_*1152delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.5-30404_5-30364delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.5-30404_5-30364delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.-43-19834_-43-19794delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.-43-19834_-43-19794delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.-99+30916_-99+30956delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.-99+30916_-99+30956delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) n.1312_1352delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA n.1353_1393delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | |
17 | g.43094315_43094356del | CA000779 | BRCA1 | n.1239_1280del c.1175_1216del (p.Leu392_Asn406delinsHis) c.1049_1090del (p.Leu350_Asn364delinsHis) c.1172_1213del (p.Leu391_Asn405delinsHis) c.1097_1138del (p.Leu366_Asn380delinsHis) c.784+388_784+429del (n.784+388_784+429del) c.646+388_646+429del (n.646+388_646+429del) c.287_328del (p.Leu96_Asn110delinsHis) c.1052_1093del (p.Leu351_Asn365delinsHis) c.1034_1075del (p.Leu345_Asn359delinsHis) c.664+388_664+429del (n.664+388_664+429del) c.706+388_706+429del (n.706+388_706+429del) c.*1183_*1224del (n.*1183_*1224del) c.670+1490_670+1531del (n.670+1490_670+1531del) c.526_567del c.*958_*999del (n.*958_*999del) c.787+388_787+429del (n.787+388_787+429del) c.772_813del c.409+388_409+429del (n.409+388_409+429del) c.412+388_412+429del (n.412+388_412+429del) c.*1111_*1152del (n.*1111_*1152del) c.5-30405_5-30364del (n.5-30405_5-30364del) c.-43-19835_-43-19794del (n.-43-19835_-43-19794del) c.-99+30915_-99+30956del (n.-99+30915_-99+30956del) n.1311_1352del n.1352_1393del | ClinVar dbSNP |
17 | g.43094315_43094356delinsTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA | CA2260784814 | BRCA1 | n.1239_1280delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA c.1175_1216delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu392=) c.1049_1090delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu350=) c.1172_1213delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu391=) c.1097_1138delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu366=) c.784+388_784+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.784+388_784+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.646+388_646+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.646+388_646+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.287_328delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu96=) c.1052_1093delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu351=) c.1034_1075delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu345=) c.664+388_664+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.664+388_664+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.706+388_706+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.706+388_706+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.*1183_*1224delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.*1183_*1224delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.670+1490_670+1531delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.670+1490_670+1531delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.526_567delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA c.*958_*999delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.*958_*999delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.787+388_787+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.787+388_787+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.772_813delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA c.409+388_409+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.409+388_409+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.412+388_412+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.412+388_412+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.*1111_*1152delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.*1111_*1152delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.5-30405_5-30364delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.5-30405_5-30364delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.-43-19835_-43-19794delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.-43-19835_-43-19794delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) c.-99+30915_-99+30956delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.-99+30915_-99+30956delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA) n.1311_1352delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA n.1352_1393delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | |
17 | g.43094316_43094355del | CA658824533 | BRCA1 | n.1240_1279del c.1176_1215del (p.Leu393MetfsTer4) c.1050_1089del (p.Leu351MetfsTer4) c.1173_1212del (p.Leu392MetfsTer4) c.1098_1137del (p.Leu367MetfsTer4) c.784+389_784+428del (n.784+389_784+428del) c.646+389_646+428del (n.646+389_646+428del) c.288_327del (p.Leu97MetfsTer4) c.1053_1092del (p.Leu352MetfsTer4) c.1035_1074del (p.Leu346MetfsTer4) c.664+389_664+428del (n.664+389_664+428del) c.706+389_706+428del (n.706+389_706+428del) c.*1184_*1223del (n.*1184_*1223del) c.670+1491_670+1530del (n.670+1491_670+1530del) c.527_566del c.*959_*998del (n.*959_*998del) c.787+389_787+428del (n.787+389_787+428del) c.773_812del c.409+389_409+428del (n.409+389_409+428del) c.412+389_412+428del (n.412+389_412+428del) c.*1112_*1151del (n.*1112_*1151del) c.5-30404_5-30365del (n.5-30404_5-30365del) c.-43-19834_-43-19795del (n.-43-19834_-43-19795del) c.-99+30916_-99+30955del (n.-99+30916_-99+30955del) n.1312_1351del n.1353_1392del | ClinVar dbSNP |
17 | g.43094316_43094356del | CA000778 | BRCA1 | n.1239_1279del c.1175_1215del (p.Leu392GlnfsTer6) c.1049_1089del (p.Leu350GlnfsTer6) c.1172_1212del (p.Leu391GlnfsTer6) c.1097_1137del (p.Leu366GlnfsTer6) c.784+388_784+428del (n.784+388_784+428del) c.646+388_646+428del (n.646+388_646+428del) c.287_327del (p.Leu96GlnfsTer6) c.1052_1092del (p.Leu351GlnfsTer6) c.1034_1074del (p.Leu345GlnfsTer6) c.664+388_664+428del (n.664+388_664+428del) c.706+388_706+428del (n.706+388_706+428del) c.*1183_*1223del (n.*1183_*1223del) c.670+1490_670+1530del (n.670+1490_670+1530del) c.526_566del c.*958_*998del (n.*958_*998del) c.787+388_787+428del (n.787+388_787+428del) c.772_812del c.409+388_409+428del (n.409+388_409+428del) c.412+388_412+428del (n.412+388_412+428del) c.*1111_*1151del (n.*1111_*1151del) c.5-30405_5-30365del (n.5-30405_5-30365del) c.-43-19835_-43-19795del (n.-43-19835_-43-19795del) c.-99+30915_-99+30955del (n.-99+30915_-99+30955del) n.1311_1351del n.1352_1392del | ClinVar dbSNP |
17 | g.43094316_43094356delinsTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA | CA2260784817 | BRCA1 | n.1239_1279delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA c.1175_1215delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (p.Leu392=) c.1049_1089delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (p.Leu350=) c.1172_1212delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (p.Leu391=) c.1097_1137delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (p.Leu366=) c.784+388_784+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.784+388_784+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA) c.646+388_646+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.646+388_646+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA) c.287_327delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (p.Leu96=) c.1052_1092delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (p.Leu351=) c.1034_1074delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (p.Leu345=) c.664+388_664+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.664+388_664+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA) c.706+388_706+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.706+388_706+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA) c.*1183_*1223delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.*1183_*1223delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA) c.670+1490_670+1530delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.670+1490_670+1530delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA) c.526_566delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA c.*958_*998delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.*958_*998delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA) c.787+388_787+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.787+388_787+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA) c.772_812delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA c.409+388_409+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.409+388_409+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA) c.412+388_412+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.412+388_412+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA) c.*1111_*1151delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.*1111_*1151delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA) c.5-30405_5-30365delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.5-30405_5-30365delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA) c.-43-19835_-43-19795delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.-43-19835_-43-19795delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA) c.-99+30915_-99+30955delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.-99+30915_-99+30955delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA) n.1311_1351delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA n.1352_1392delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA | |
17 | g.43094318_43094357del | CA000776 | BRCA1 | n.1239_1278del c.1175_1214del (p.Leu392GlnfsTer5) c.1049_1088del (p.Leu350GlnfsTer5) c.1172_1211del (p.Leu391GlnfsTer5) c.1097_1136del (p.Leu366GlnfsTer5) c.784+388_784+427del (n.784+388_784+427del) c.646+388_646+427del (n.646+388_646+427del) c.287_326del (p.Leu96GlnfsTer5) c.1052_1091del (p.Leu351GlnfsTer5) c.1034_1073del (p.Leu345GlnfsTer5) c.664+388_664+427del (n.664+388_664+427del) c.706+388_706+427del (n.706+388_706+427del) c.*1183_*1222del (n.*1183_*1222del) c.670+1490_670+1529del (n.670+1490_670+1529del) c.526_565del c.*958_*997del (n.*958_*997del) c.787+388_787+427del (n.787+388_787+427del) c.772_811del c.409+388_409+427del (n.409+388_409+427del) c.412+388_412+427del (n.412+388_412+427del) c.*1111_*1150del (n.*1111_*1150del) c.5-30405_5-30366del (n.5-30405_5-30366del) c.-43-19835_-43-19796del (n.-43-19835_-43-19796del) c.-99+30915_-99+30954del (n.-99+30915_-99+30954del) n.1311_1350del n.1352_1391del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43094327_43094366del | CA1139532220 | BRCA1 | n.1232_1271del c.1168_1207del (p.Asp390LeufsTer7) c.1042_1081del (p.Asp348LeufsTer7) c.1165_1204del (p.Asp389LeufsTer7) c.1090_1129del (p.Asp364LeufsTer7) c.784+381_784+420del (n.784+381_784+420del) c.646+381_646+420del (n.646+381_646+420del) c.280_319del (p.Asp94LeufsTer7) c.1045_1084del (p.Asp349LeufsTer7) c.1027_1066del (p.Asp343LeufsTer7) c.664+381_664+420del (n.664+381_664+420del) c.706+381_706+420del (n.706+381_706+420del) c.*1176_*1215del (n.*1176_*1215del) c.670+1483_670+1522del (n.670+1483_670+1522del) c.519_558del c.*951_*990del (n.*951_*990del) c.787+381_787+420del (n.787+381_787+420del) c.765_804del c.409+381_409+420del (n.409+381_409+420del) c.412+381_412+420del (n.412+381_412+420del) c.*1104_*1143del (n.*1104_*1143del) c.5-30412_5-30373del (n.5-30412_5-30373del) c.-43-19842_-43-19803del (n.-43-19842_-43-19803del) c.-99+30908_-99+30947del (n.-99+30908_-99+30947del) n.1304_1343del n.1345_1384del | |
17 | g.43094342C>A | CA10599671 | BRCA1 | n.1253G>T c.1189G>T (p.Asp397Tyr) c.1063G>T (p.Asp355Tyr) c.1186G>T (p.Asp396Tyr) c.1111G>T (p.Asp371Tyr) c.784+402G>T (n.784+402G>T) c.646+402G>T (n.646+402G>T) c.301G>T (p.Asp101Tyr) c.1066G>T (p.Asp356Tyr) c.1048G>T (p.Asp350Tyr) c.664+402G>T (n.664+402G>T) c.706+402G>T (n.706+402G>T) c.*1197G>T (n.*1197G>T) c.670+1504G>T (n.670+1504G>T) c.540G>T c.*972G>T (n.*972G>T) c.787+402G>T (n.787+402G>T) c.786G>T c.409+402G>T (n.409+402G>T) c.412+402G>T (n.412+402G>T) c.*1125G>T (n.*1125G>T) c.5-30391G>T (n.5-30391G>T) c.-43-19821G>T (n.-43-19821G>T) c.-99+30929G>T (n.-99+30929G>T) n.1325G>T n.1366G>T | dbSNP |
17 | g.43094342C>G | CA10599672 | BRCA1 | n.1253G>C c.1189G>C (p.Asp397His) c.1063G>C (p.Asp355His) c.1186G>C (p.Asp396His) c.1111G>C (p.Asp371His) c.784+402G>C (n.784+402G>C) c.646+402G>C (n.646+402G>C) c.301G>C (p.Asp101His) c.1066G>C (p.Asp356His) c.1048G>C (p.Asp350His) c.664+402G>C (n.664+402G>C) c.706+402G>C (n.706+402G>C) c.*1197G>C (n.*1197G>C) c.670+1504G>C (n.670+1504G>C) c.540G>C c.*972G>C (n.*972G>C) c.787+402G>C (n.787+402G>C) c.786G>C c.409+402G>C (n.409+402G>C) c.412+402G>C (n.412+402G>C) c.*1125G>C (n.*1125G>C) c.5-30391G>C (n.5-30391G>C) c.-43-19821G>C (n.-43-19821G>C) c.-99+30929G>C (n.-99+30929G>C) n.1325G>C n.1366G>C | dbSNP |
17 | g.43094342C>T | CA10599673 | BRCA1 | n.1253G>A c.1189G>A (p.Asp397Asn) c.1063G>A (p.Asp355Asn) c.1186G>A (p.Asp396Asn) c.1111G>A (p.Asp371Asn) c.784+402G>A (n.784+402G>A) c.646+402G>A (n.646+402G>A) c.301G>A (p.Asp101Asn) c.1066G>A (p.Asp356Asn) c.1048G>A (p.Asp350Asn) c.664+402G>A (n.664+402G>A) c.706+402G>A (n.706+402G>A) c.*1197G>A (n.*1197G>A) c.670+1504G>A (n.670+1504G>A) c.540G>A c.*972G>A (n.*972G>A) c.787+402G>A (n.787+402G>A) c.786G>A c.409+402G>A (n.409+402G>A) c.412+402G>A (n.412+402G>A) c.*1125G>A (n.*1125G>A) c.5-30391G>A (n.5-30391G>A) c.-43-19821G>A (n.-43-19821G>A) c.-99+30929G>A (n.-99+30929G>A) n.1325G>A n.1366G>A | ClinVar dbSNP |
17 | g.43094342_43094343delinsCA | CA2260784844 | BRCA1 | n.1252_1253delinsTG c.1188_1189delinsTG (p.Asp396=) c.1062_1063delinsTG (p.Asp354=) c.1185_1186delinsTG (p.Asp395=) c.1110_1111delinsTG (p.Asp370=) c.784+401_784+402delinsTG (n.784+401_784+402delinsTG) c.646+401_646+402delinsTG (n.646+401_646+402delinsTG) c.300_301delinsTG (p.Asp100=) c.1065_1066delinsTG (p.Asp355=) c.1047_1048delinsTG (p.Asp349=) c.664+401_664+402delinsTG (n.664+401_664+402delinsTG) c.706+401_706+402delinsTG (n.706+401_706+402delinsTG) c.*1196_*1197delinsTG (n.*1196_*1197delinsTG) c.670+1503_670+1504delinsTG (n.670+1503_670+1504delinsTG) c.539_540delinsTG c.*971_*972delinsTG (n.*971_*972delinsTG) c.787+401_787+402delinsTG (n.787+401_787+402delinsTG) c.785_786delinsTG c.409+401_409+402delinsTG (n.409+401_409+402delinsTG) c.412+401_412+402delinsTG (n.412+401_412+402delinsTG) c.*1124_*1125delinsTG (n.*1124_*1125delinsTG) c.5-30392_5-30391delinsTG (n.5-30392_5-30391delinsTG) c.-43-19822_-43-19821delinsTG (n.-43-19822_-43-19821delinsTG) c.-99+30928_-99+30929delinsTG (n.-99+30928_-99+30929delinsTG) n.1324_1325delinsTG n.1365_1366delinsTG | |
17 | g.43094343del | CA000784 | BRCA1 | n.1252del c.1188del (p.Asp396GlufsTer14) c.1062del (p.Asp354GlufsTer14) c.1185del (p.Asp395GlufsTer14) c.1110del (p.Asp370GlufsTer14) c.784+401del (n.784+401del) c.646+401del (n.646+401del) c.300del (p.Asp100GlufsTer14) c.1065del (p.Asp355GlufsTer14) c.1047del (p.Asp349GlufsTer14) c.664+401del (n.664+401del) c.706+401del (n.706+401del) c.*1196del (n.*1196del) c.670+1503del (n.670+1503del) c.539del c.*971del (n.*971del) c.787+401del (n.787+401del) c.785del c.409+401del (n.409+401del) c.412+401del (n.412+401del) c.*1124del (n.*1124del) c.5-30392del (n.5-30392del) c.-43-19822del (n.-43-19822del) c.-99+30928del (n.-99+30928del) n.1324del n.1365del | ClinVar dbSNP |
17 | g.43094343A>C | CA10599674 | BRCA1 | n.1252T>G c.1188T>G (p.Asp396Glu) c.1062T>G (p.Asp354Glu) c.1185T>G (p.Asp395Glu) c.1110T>G (p.Asp370Glu) c.784+401T>G (n.784+401T>G) c.646+401T>G (n.646+401T>G) c.300T>G (p.Asp100Glu) c.1065T>G (p.Asp355Glu) c.1047T>G (p.Asp349Glu) c.664+401T>G (n.664+401T>G) c.706+401T>G (n.706+401T>G) c.*1196T>G (n.*1196T>G) c.670+1503T>G (n.670+1503T>G) c.539T>G c.*971T>G (n.*971T>G) c.787+401T>G (n.787+401T>G) c.785T>G c.409+401T>G (n.409+401T>G) c.412+401T>G (n.412+401T>G) c.*1124T>G (n.*1124T>G) c.5-30392T>G (n.5-30392T>G) c.-43-19822T>G (n.-43-19822T>G) c.-99+30928T>G (n.-99+30928T>G) n.1324T>G n.1365T>G | dbSNP |
17 | g.43094343A>G | CA500233609 | BRCA1 | n.1252T>C c.1188T>C (p.Asp396=) c.1062T>C (p.Asp354=) c.1185T>C (p.Asp395=) c.1110T>C (p.Asp370=) c.784+401T>C (n.784+401T>C) c.646+401T>C (n.646+401T>C) c.300T>C (p.Asp100=) c.1065T>C (p.Asp355=) c.1047T>C (p.Asp349=) c.664+401T>C (n.664+401T>C) c.706+401T>C (n.706+401T>C) c.*1196T>C (n.*1196T>C) c.670+1503T>C (n.670+1503T>C) c.539T>C c.*971T>C (n.*971T>C) c.787+401T>C (n.787+401T>C) c.785T>C c.409+401T>C (n.409+401T>C) c.412+401T>C (n.412+401T>C) c.*1124T>C (n.*1124T>C) c.5-30392T>C (n.5-30392T>C) c.-43-19822T>C (n.-43-19822T>C) c.-99+30928T>C (n.-99+30928T>C) n.1324T>C n.1365T>C | dbSNP |
17 | g.43094343A>T | CA10599675 | BRCA1 | n.1252T>A c.1188T>A (p.Asp396Glu) c.1062T>A (p.Asp354Glu) c.1185T>A (p.Asp395Glu) c.1110T>A (p.Asp370Glu) c.784+401T>A (n.784+401T>A) c.646+401T>A (n.646+401T>A) c.300T>A (p.Asp100Glu) c.1065T>A (p.Asp355Glu) c.1047T>A (p.Asp349Glu) c.664+401T>A (n.664+401T>A) c.706+401T>A (n.706+401T>A) c.*1196T>A (n.*1196T>A) c.670+1503T>A (n.670+1503T>A) c.539T>A c.*971T>A (n.*971T>A) c.787+401T>A (n.787+401T>A) c.785T>A c.409+401T>A (n.409+401T>A) c.412+401T>A (n.412+401T>A) c.*1124T>A (n.*1124T>A) c.5-30392T>A (n.5-30392T>A) c.-43-19822T>A (n.-43-19822T>A) c.-99+30928T>A (n.-99+30928T>A) n.1324T>A n.1365T>A | dbSNP |
17 | g.43094343_43094344insCTCTACTCCACT | CA2733925662 | BRCA1 | n.1251_1252insAGTGGAGTAGAG c.1187_1188insAGTGGAGTAGAG (p.Asp396GlufsTer4) c.1061_1062insAGTGGAGTAGAG (p.Asp354GlufsTer4) c.1184_1185insAGTGGAGTAGAG (p.Asp395GlufsTer4) c.1109_1110insAGTGGAGTAGAG (p.Asp370GlufsTer4) c.784+400_784+401insAGTGGAGTAGAG (n.784+400_784+401insAGTGGAGTAGAG) c.646+400_646+401insAGTGGAGTAGAG (n.646+400_646+401insAGTGGAGTAGAG) c.299_300insAGTGGAGTAGAG (p.Asp100GlufsTer4) c.1064_1065insAGTGGAGTAGAG (p.Asp355GlufsTer4) c.1046_1047insAGTGGAGTAGAG (p.Asp349GlufsTer4) c.664+400_664+401insAGTGGAGTAGAG (n.664+400_664+401insAGTGGAGTAGAG) c.706+400_706+401insAGTGGAGTAGAG (n.706+400_706+401insAGTGGAGTAGAG) c.*1195_*1196insAGTGGAGTAGAG (n.*1195_*1196insAGTGGAGTAGAG) c.670+1502_670+1503insAGTGGAGTAGAG (n.670+1502_670+1503insAGTGGAGTAGAG) c.538_539insAGTGGAGTAGAG c.*970_*971insAGTGGAGTAGAG (n.*970_*971insAGTGGAGTAGAG) c.787+400_787+401insAGTGGAGTAGAG (n.787+400_787+401insAGTGGAGTAGAG) c.784_785insAGTGGAGTAGAG c.409+400_409+401insAGTGGAGTAGAG (n.409+400_409+401insAGTGGAGTAGAG) c.412+400_412+401insAGTGGAGTAGAG (n.412+400_412+401insAGTGGAGTAGAG) c.*1123_*1124insAGTGGAGTAGAG (n.*1123_*1124insAGTGGAGTAGAG) c.5-30393_5-30392insAGTGGAGTAGAG (n.5-30393_5-30392insAGTGGAGTAGAG) c.-43-19823_-43-19822insAGTGGAGTAGAG (n.-43-19823_-43-19822insAGTGGAGTAGAG) c.-99+30927_-99+30928insAGTGGAGTAGAG (n.-99+30927_-99+30928insAGTGGAGTAGAG) n.1323_1324insAGTGGAGTAGAG n.1364_1365insAGTGGAGTAGAG | dbSNP |
17 | g.43094344T>A | CA10599676 | BRCA1 | n.1251A>T c.1187A>T (p.Asp396Val) c.1061A>T (p.Asp354Val) c.1184A>T (p.Asp395Val) c.1109A>T (p.Asp370Val) c.784+400A>T (n.784+400A>T) c.646+400A>T (n.646+400A>T) c.299A>T (p.Asp100Val) c.1064A>T (p.Asp355Val) c.1046A>T (p.Asp349Val) c.664+400A>T (n.664+400A>T) c.706+400A>T (n.706+400A>T) c.*1195A>T (n.*1195A>T) c.670+1502A>T (n.670+1502A>T) c.538A>T c.*970A>T (n.*970A>T) c.787+400A>T (n.787+400A>T) c.784A>T c.409+400A>T (n.409+400A>T) c.412+400A>T (n.412+400A>T) c.*1123A>T (n.*1123A>T) c.5-30393A>T (n.5-30393A>T) c.-43-19823A>T (n.-43-19823A>T) c.-99+30927A>T (n.-99+30927A>T) n.1323A>T n.1364A>T | ClinVar dbSNP gnomAD v4 |
17 | g.43094344T>C | CA10599677 | BRCA1 | n.1251A>G c.1187A>G (p.Asp396Gly) c.1061A>G (p.Asp354Gly) c.1184A>G (p.Asp395Gly) c.1109A>G (p.Asp370Gly) c.784+400A>G (n.784+400A>G) c.646+400A>G (n.646+400A>G) c.299A>G (p.Asp100Gly) c.1064A>G (p.Asp355Gly) c.1046A>G (p.Asp349Gly) c.664+400A>G (n.664+400A>G) c.706+400A>G (n.706+400A>G) c.*1195A>G (n.*1195A>G) c.670+1502A>G (n.670+1502A>G) c.538A>G c.*970A>G (n.*970A>G) c.787+400A>G (n.787+400A>G) c.784A>G c.409+400A>G (n.409+400A>G) c.412+400A>G (n.412+400A>G) c.*1123A>G (n.*1123A>G) c.5-30393A>G (n.5-30393A>G) c.-43-19823A>G (n.-43-19823A>G) c.-99+30927A>G (n.-99+30927A>G) n.1323A>G n.1364A>G | ClinVar dbSNP |
17 | g.43094344T>G | CA10599678 | BRCA1 | n.1251A>C c.1187A>C (p.Asp396Ala) c.1061A>C (p.Asp354Ala) c.1184A>C (p.Asp395Ala) c.1109A>C (p.Asp370Ala) c.784+400A>C (n.784+400A>C) c.646+400A>C (n.646+400A>C) c.299A>C (p.Asp100Ala) c.1064A>C (p.Asp355Ala) c.1046A>C (p.Asp349Ala) c.664+400A>C (n.664+400A>C) c.706+400A>C (n.706+400A>C) c.*1195A>C (n.*1195A>C) c.670+1502A>C (n.670+1502A>C) c.538A>C c.*970A>C (n.*970A>C) c.787+400A>C (n.787+400A>C) c.784A>C c.409+400A>C (n.409+400A>C) c.412+400A>C (n.412+400A>C) c.*1123A>C (n.*1123A>C) c.5-30393A>C (n.5-30393A>C) c.-43-19823A>C (n.-43-19823A>C) c.-99+30927A>C (n.-99+30927A>C) n.1323A>C n.1364A>C | dbSNP |
17 | g.43094344T= | CA2260784845 | BRCA1 | n.1251A= c.1187A= (p.Asp396=) c.1061A= (p.Asp354=) c.1184A= (p.Asp395=) c.1109A= (p.Asp370=) c.784+400A= (n.784+400A=) c.646+400A= (n.646+400A=) c.299A= (p.Asp100=) c.1064A= (p.Asp355=) c.1046A= (p.Asp349=) c.664+400A= (n.664+400A=) c.706+400A= (n.706+400A=) c.*1195A= (n.*1195A=) c.670+1502A= (n.670+1502A=) c.538A= c.*970A= (n.*970A=) c.787+400A= (n.787+400A=) c.784A= c.409+400A= (n.409+400A=) c.412+400A= (n.412+400A=) c.*1123A= (n.*1123A=) c.5-30393A= (n.5-30393A=) c.-43-19823A= (n.-43-19823A=) c.-99+30927A= (n.-99+30927A=) n.1323A= n.1364A= | |
17 | g.43094345C>A | CA10599679 | BRCA1 | n.1250G>T c.1186G>T (p.Asp396Tyr) c.1060G>T (p.Asp354Tyr) c.1183G>T (p.Asp395Tyr) c.1108G>T (p.Asp370Tyr) c.784+399G>T (n.784+399G>T) c.646+399G>T (n.646+399G>T) c.298G>T (p.Asp100Tyr) c.1063G>T (p.Asp355Tyr) c.1045G>T (p.Asp349Tyr) c.664+399G>T (n.664+399G>T) c.706+399G>T (n.706+399G>T) c.*1194G>T (n.*1194G>T) c.670+1501G>T (n.670+1501G>T) c.537G>T c.*969G>T (n.*969G>T) c.787+399G>T (n.787+399G>T) c.783G>T c.409+399G>T (n.409+399G>T) c.412+399G>T (n.412+399G>T) c.*1122G>T (n.*1122G>T) c.5-30394G>T (n.5-30394G>T) c.-43-19824G>T (n.-43-19824G>T) c.-99+30926G>T (n.-99+30926G>T) n.1322G>T n.1363G>T | dbSNP |
17 | g.43094345C= | CA2260784846 | BRCA1 | n.1250G= c.1186G= (p.Asp396=) c.1060G= (p.Asp354=) c.1183G= (p.Asp395=) c.1108G= (p.Asp370=) c.784+399G= (n.784+399G=) c.646+399G= (n.646+399G=) c.298G= (p.Asp100=) c.1063G= (p.Asp355=) c.1045G= (p.Asp349=) c.664+399G= (n.664+399G=) c.706+399G= (n.706+399G=) c.*1194G= (n.*1194G=) c.670+1501G= (n.670+1501G=) c.537G= c.*969G= (n.*969G=) c.787+399G= (n.787+399G=) c.783G= c.409+399G= (n.409+399G=) c.412+399G= (n.412+399G=) c.*1122G= (n.*1122G=) c.5-30394G= (n.5-30394G=) c.-43-19824G= (n.-43-19824G=) c.-99+30926G= (n.-99+30926G=) n.1322G= n.1363G= | |
17 | g.43094345C>G | CA10599680 | BRCA1 | n.1250G>C c.1186G>C (p.Asp396His) c.1060G>C (p.Asp354His) c.1183G>C (p.Asp395His) c.1108G>C (p.Asp370His) c.784+399G>C (n.784+399G>C) c.646+399G>C (n.646+399G>C) c.298G>C (p.Asp100His) c.1063G>C (p.Asp355His) c.1045G>C (p.Asp349His) c.664+399G>C (n.664+399G>C) c.706+399G>C (n.706+399G>C) c.*1194G>C (n.*1194G>C) c.670+1501G>C (n.670+1501G>C) c.537G>C c.*969G>C (n.*969G>C) c.787+399G>C (n.787+399G>C) c.783G>C c.409+399G>C (n.409+399G>C) c.412+399G>C (n.412+399G>C) c.*1122G>C (n.*1122G>C) c.5-30394G>C (n.5-30394G>C) c.-43-19824G>C (n.-43-19824G>C) c.-99+30926G>C (n.-99+30926G>C) n.1322G>C n.1363G>C | dbSNP |
17 | g.43094345C>T | CA000782 | BRCA1 | n.1250G>A c.1186G>A (p.Asp396Asn) c.1060G>A (p.Asp354Asn) c.1183G>A (p.Asp395Asn) c.1108G>A (p.Asp370Asn) c.784+399G>A (n.784+399G>A) c.646+399G>A (n.646+399G>A) c.298G>A (p.Asp100Asn) c.1063G>A (p.Asp355Asn) c.1045G>A (p.Asp349Asn) c.664+399G>A (n.664+399G>A) c.706+399G>A (n.706+399G>A) c.*1194G>A (n.*1194G>A) c.670+1501G>A (n.670+1501G>A) c.537G>A c.*969G>A (n.*969G>A) c.787+399G>A (n.787+399G>A) c.783G>A c.409+399G>A (n.409+399G>A) c.412+399G>A (n.412+399G>A) c.*1122G>A (n.*1122G>A) c.5-30394G>A (n.5-30394G>A) c.-43-19824G>A (n.-43-19824G>A) c.-99+30926G>A (n.-99+30926G>A) n.1322G>A n.1363G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43094346A>C | CA500233614 | BRCA1 | n.1249T>G c.1185T>G (p.Ser395=) c.1059T>G (p.Ser353=) c.1182T>G (p.Ser394=) c.1107T>G (p.Ser369=) c.784+398T>G (n.784+398T>G) c.646+398T>G (n.646+398T>G) c.297T>G (p.Ser99=) c.1062T>G (p.Ser354=) c.1044T>G (p.Ser348=) c.664+398T>G (n.664+398T>G) c.706+398T>G (n.706+398T>G) c.*1193T>G (n.*1193T>G) c.670+1500T>G (n.670+1500T>G) c.536T>G c.*968T>G (n.*968T>G) c.787+398T>G (n.787+398T>G) c.782T>G c.409+398T>G (n.409+398T>G) c.412+398T>G (n.412+398T>G) c.*1121T>G (n.*1121T>G) c.5-30395T>G (n.5-30395T>G) c.-43-19825T>G (n.-43-19825T>G) c.-99+30925T>G (n.-99+30925T>G) n.1321T>G n.1362T>G | |
17 | g.43094346A>G | CA500233615 | BRCA1 | n.1249T>C c.1185T>C (p.Ser395=) c.1059T>C (p.Ser353=) c.1182T>C (p.Ser394=) c.1107T>C (p.Ser369=) c.784+398T>C (n.784+398T>C) c.646+398T>C (n.646+398T>C) c.297T>C (p.Ser99=) c.1062T>C (p.Ser354=) c.1044T>C (p.Ser348=) c.664+398T>C (n.664+398T>C) c.706+398T>C (n.706+398T>C) c.*1193T>C (n.*1193T>C) c.670+1500T>C (n.670+1500T>C) c.536T>C c.*968T>C (n.*968T>C) c.787+398T>C (n.787+398T>C) c.782T>C c.409+398T>C (n.409+398T>C) c.412+398T>C (n.412+398T>C) c.*1121T>C (n.*1121T>C) c.5-30395T>C (n.5-30395T>C) c.-43-19825T>C (n.-43-19825T>C) c.-99+30925T>C (n.-99+30925T>C) n.1321T>C n.1362T>C | dbSNP |