Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43070208_43078359dup | CA16043350 | BRCA1 | c.4358-1732_4983+736dup c.4358-1729_4986+736dup c.4232-1729_4860+736dup c.4352-1729_4980+736dup c.4280-1729_4908+736dup c.1046-1729_1674+736dup c.908-1729_1536+736dup c.3470-1729_4098+736dup c.4235-1729_4863+736dup c.4423+991_5052+736dup c.4217-1729_4845+736dup c.923-1732_1548+736dup c.4423+991_5049+736dup c.744+991_1373+736dup c.932-1729_1560+736dup c.*4141-1729_*4769+736dup c.1049-1732_1674+736dup c.671-1729_1299+736dup c.5-14392_5-6241dup (n.5-14392_5-6241dup) c.-43-3822_459+736dup c.-98-28153_-98-20002dup (n.-98-28153_-98-20002dup) n.4494-1729_5122+736dup n.4535-1729_5163+736dup | |
17 | g.43070192_43078360dup | CA2580612611 | BRCA1 | c.4358-1749_4983+736dup c.4358-1746_4986+736dup c.4232-1746_4860+736dup c.4352-1746_4980+736dup c.4280-1746_4908+736dup c.1046-1746_1674+736dup c.908-1746_1536+736dup c.3470-1746_4098+736dup c.4235-1746_4863+736dup c.4423+974_5052+736dup c.4217-1746_4845+736dup c.923-1749_1548+736dup c.4423+974_5049+736dup c.744+974_1373+736dup c.932-1746_1560+736dup c.*4141-1746_*4769+736dup c.1049-1749_1674+736dup c.671-1746_1299+736dup c.5-14409_5-6241dup (n.5-14409_5-6241dup) c.-43-3839_459+736dup c.-98-28170_-98-20002dup (n.-98-28170_-98-20002dup) n.4494-1746_5122+736dup n.4535-1746_5163+736dup | |
17 | g.43074333_43082577del | CA2581463402 | BRCA1 | c.4186_4672del c.4186_4675del c.4060_4549del c.4183-3_4669del c.4108_4597del c.874_1363del c.736_1225del c.3298_3787del c.4063_4552del c.4186_4741del c.4045_4534del c.754-3_1237del c.796_1282del c.4186_4738del c.507_1062del c.760_1249del c.*3969_*4458del c.877_1363del c.499_988del c.5-18624_5-10380del (n.5-18624_5-10380del) c.-43-8054_148del c.-98-32385_-98-24141del (n.-98-32385_-98-24141del) n.4322_4811del n.4363_4852del | |
17 | g.43075650_43084252dup | CA2580612642 | BRCA1 | c.4186-1676_4481+839dup c.4186-1676_4484+839dup c.4060-1676_4358+839dup c.4183-1679_4478+839dup c.4108-1676_4406+839dup c.874-1676_1172+839dup c.736-1676_1034+839dup c.3298-1676_3596+839dup c.4063-1676_4361+839dup c.4186-1676_4550+839dup c.4045-1676_4343+839dup c.754-1679_1046+839dup c.796-1676_1091+839dup c.4186-1676_4547+839dup c.507-1676_871+839dup c.760-1676_1058+839dup c.*3969-1676_*4267+839dup c.877-1676_1172+839dup c.499-1676_797+839dup c.5-20300_5-11698dup (n.5-20300_5-11698dup) c.-43-9730_-43-1128dup (n.-43-9730_-43-1128dup) c.-98-34061_-98-25459dup (n.-98-34061_-98-25459dup) n.4322-1676_4620+839dup n.4363-1676_4661+839dup | |
17 | g.43075943_43080892del | CA16609626 | BRCA1 | c.4357+1514_4481+547del c.4357+1514_4484+547del c.4231+1514_4358+547del c.4351+1514_4478+547del c.4279+1514_4406+547del c.1045+1514_1172+547del c.907+1514_1034+547del c.3469+1514_3596+547del c.4234+1514_4361+547del c.4358-1491_4550+547del c.4216+1514_4343+547del c.922+1514_1046+547del c.967+1514_1091+547del c.4358-1491_4547+547del c.679-1491_871+547del c.931+1514_1058+547del c.*4140+1514_*4267+547del c.1048+1514_1172+547del c.670+1514_797+547del c.5-16939_5-11990del (n.5-16939_5-11990del) c.-43-6369_-43-1420del (n.-43-6369_-43-1420del) c.-98-30700_-98-25751del (n.-98-30700_-98-25751del) n.4493+1514_4620+547del n.4534+1514_4661+547del | ClinVar |
17 | g.43076486_43076615del | CA2499224413 | BRCA1 | c.4358-4_4481+2del c.4358-1_4484+2del c.4232-1_4358+2del c.4352-1_4478+2del c.4280-1_4406+2del c.1046-1_1172+2del c.908-1_1034+2del c.3470-1_3596+2del c.4235-1_4361+2del c.4424-1_4550+2del c.4217-1_4343+2del c.923-4_1046+2del c.968-4_1091+2del c.4424-4_4547+2del c.745-1_871+2del c.932-1_1058+2del c.*4141-1_*4267+2del c.1049-4_1172+2del c.671-1_797+2del c.5-12664_5-12535del (n.5-12664_5-12535del) c.-43-2094_-43-1965del (n.-43-2094_-43-1965del) c.-98-26425_-98-26296del (n.-98-26425_-98-26296del) n.4494-1_4620+2del n.4535-1_4661+2del | ClinVar dbSNP |
17 | g.43076492_43076618dup | CA658653640 | BRCA1 | c.4358-3_4481dup c.4358_4484dup c.4232_4358dup c.4352_4478dup c.4280_4406dup c.1046_1172dup c.908_1034dup c.3470_3596dup c.4235_4361dup c.4424_4550dup c.4217_4343dup c.923-3_1046dup c.968-3_1091dup c.4424-3_4547dup c.745_871dup c.932_1058dup c.*4141_*4267dup c.1049-3_1172dup c.671_797dup c.5-12663_5-12537dup (n.5-12663_5-12537dup) c.-43-2093_-43-1967dup (n.-43-2093_-43-1967dup) c.-98-26424_-98-26298dup (n.-98-26424_-98-26298dup) n.4494_4620dup n.4535_4661dup | |
17 | g.43076492_43076618del | CA002799 | BRCA1 | c.4358-3_4481del c.4358_4484del c.4232_4358del c.4352_4478del c.4280_4406del c.1046_1172del c.908_1034del c.3470_3596del c.4235_4361del c.4424_4550del c.4217_4343del c.923-3_1046del c.968-3_1091del c.4424-3_4547del c.745_871del c.932_1058del c.*4141_*4267del c.1049-3_1172del c.671_797del c.674_800del c.5-12663_5-12537del (n.5-12663_5-12537del) c.-43-2093_-43-1967del (n.-43-2093_-43-1967del) c.-98-26424_-98-26298del (n.-98-26424_-98-26298del) n.252-3_375del n.4494_4620del n.4535_4661del | ClinVar |
17 | g.43076497_43076519delinsCCTGGTTCTTTATTTTTACTGGT | CA2260775448 | BRCA1 | c.4450_4472delinsACCAGTAAAAATAAAGAACCAGG (p.Thr1484=) c.4453_4475delinsACCAGTAAAAATAAAGAACCAGG (p.Thr1485=) c.4327_4349delinsACCAGTAAAAATAAAGAACCAGG (p.Thr1443=) c.4447_4469delinsACCAGTAAAAATAAAGAACCAGG (p.Thr1483=) c.4375_4397delinsACCAGTAAAAATAAAGAACCAGG (p.Thr1459=) c.1141_1163delinsACCAGTAAAAATAAAGAACCAGG (p.Thr381=) c.1003_1025delinsACCAGTAAAAATAAAGAACCAGG (p.Thr335=) c.3565_3587delinsACCAGTAAAAATAAAGAACCAGG (p.Thr1189=) c.4330_4352delinsACCAGTAAAAATAAAGAACCAGG (p.Thr1444=) c.4519_4541delinsACCAGTAAAAATAAAGAACCAGG (p.Thr1507=) c.4312_4334delinsACCAGTAAAAATAAAGAACCAGG (p.Thr1438=) c.1015_1037delinsACCAGTAAAAATAAAGAACCAGG (p.Thr339=) c.1060_1082delinsACCAGTAAAAATAAAGAACCAGG (p.Thr354=) c.4516_4538delinsACCAGTAAAAATAAAGAACCAGG (p.Thr1506=) c.840_862delinsACCAGTAAAAATAAAGAACCAGG c.1027_1049delinsACCAGTAAAAATAAAGAACCAGG (p.Thr343=) c.*4236_*4258delinsACCAGTAAAAATAAAGAACCAGG (n.*4236_*4258delinsACCAGTAAAAATAAAGAACCAGG) c.766_788delinsACCAGTAAAAATAAAGAACCAGG (p.Thr256=) c.769_791delinsACCAGTAAAAATAAAGAACCAGG (p.Thr257=) c.5-12568_5-12546delinsACCAGTAAAAATAAAGAACCAGG (n.5-12568_5-12546delinsACCAGTAAAAATAAAGAACCAGG) c.-43-1998_-43-1976delinsACCAGTAAAAATAAAGAACCAGG (n.-43-1998_-43-1976delinsACCAGTAAAAATAAAGAACCAGG) c.-98-26329_-98-26307delinsACCAGTAAAAATAAAGAACCAGG (n.-98-26329_-98-26307delinsACCAGTAAAAATAAAGAACCAGG) n.344_366delinsACCAGTAAAAATAAAGAACCAGG n.4589_4611delinsACCAGTAAAAATAAAGAACCAGG n.4630_4652delinsACCAGTAAAAATAAAGAACCAGG | |
17 | g.43076498_43076519del | CA10589662 | BRCA1 | c.4450_4471del (p.Thr1484GlufsTer13) c.4453_4474del (p.Thr1485GlufsTer13) c.4327_4348del (p.Thr1443GlufsTer13) c.4447_4468del (p.Thr1483GlufsTer13) c.4375_4396del (p.Thr1459GlufsTer13) c.1141_1162del (p.Thr381GlufsTer13) c.1003_1024del (p.Thr335GlufsTer13) c.3565_3586del (p.Thr1189GlufsTer13) c.4330_4351del (p.Thr1444GlufsTer13) c.4519_4540del (p.Thr1507GlufsTer13) c.4312_4333del (p.Thr1438GlufsTer13) c.1015_1036del (p.Thr339GlufsTer13) c.1060_1081del (p.Thr354GlufsTer13) c.4516_4537del (p.Thr1506GlufsTer13) c.840_861del c.1027_1048del (p.Thr343GlufsTer13) c.*4236_*4257del (n.*4236_*4257del) c.766_787del (p.Thr256GlufsTer13) c.769_790del (p.Thr257GlufsTer?) c.5-12568_5-12547del (n.5-12568_5-12547del) c.-43-1998_-43-1977del (n.-43-1998_-43-1977del) c.-98-26329_-98-26308del (n.-98-26329_-98-26308del) n.344_365del n.4589_4610del n.4630_4651del | ClinVar dbSNP |
17 | g.43076504_43076507del | CA2580094430 | BRCA1 | c.4464_4467del (p.Lys1488AsnfsTer15) c.4467_4470del (p.Lys1489AsnfsTer15) c.4341_4344del (p.Lys1447AsnfsTer15) c.4461_4464del (p.Lys1487AsnfsTer15) c.4389_4392del (p.Lys1463AsnfsTer15) c.1155_1158del (p.Lys385AsnfsTer15) c.1017_1020del (p.Lys339AsnfsTer15) c.3579_3582del (p.Lys1193AsnfsTer15) c.4344_4347del (p.Lys1448AsnfsTer15) c.4533_4536del (p.Lys1511AsnfsTer15) c.4326_4329del (p.Lys1442AsnfsTer15) c.1029_1032del (p.Lys343AsnfsTer15) c.1074_1077del (p.Lys358AsnfsTer15) c.4530_4533del (p.Lys1510AsnfsTer15) c.854_857del c.1041_1044del (p.Lys347AsnfsTer15) c.*4250_*4253del (n.*4250_*4253del) c.780_783del (p.Lys260AsnfsTer15) c.783_786del (p.Lys261AsnfsTer?) c.5-12554_5-12551del (n.5-12554_5-12551del) c.-43-1984_-43-1981del (n.-43-1984_-43-1981del) c.-98-26315_-98-26312del (n.-98-26315_-98-26312del) n.358_361del n.4603_4606del n.4644_4647del | ClinVar |
17 | g.43076504C>A | CA002864 | BRCA1 | c.4465G>T (p.Glu1489Ter) c.4468G>T (p.Glu1490Ter) c.4342G>T (p.Glu1448Ter) c.4462G>T (p.Glu1488Ter) c.4390G>T (p.Glu1464Ter) c.1156G>T (p.Glu386Ter) c.1018G>T (p.Glu340Ter) c.3580G>T (p.Glu1194Ter) c.4345G>T (p.Glu1449Ter) c.4534G>T (p.Glu1512Ter) c.4327G>T (p.Glu1443Ter) c.1030G>T (p.Glu344Ter) c.1075G>T (p.Glu359Ter) c.4531G>T (p.Glu1511Ter) c.855G>T c.1042G>T (p.Glu348Ter) c.*4251G>T (n.*4251G>T) c.781G>T (p.Glu261Ter) c.784G>T (p.Glu262Ter) c.5-12553G>T (n.5-12553G>T) c.-43-1983G>T (n.-43-1983G>T) c.-98-26314G>T (n.-98-26314G>T) n.359G>T n.4604G>T n.4645G>T | ClinVar dbSNP |
17 | g.43076504C= | CA2260775454 | BRCA1 | c.4465G= (p.Glu1489=) c.4468G= (p.Glu1490=) c.4342G= (p.Glu1448=) c.4462G= (p.Glu1488=) c.4390G= (p.Glu1464=) c.1156G= (p.Glu386=) c.1018G= (p.Glu340=) c.3580G= (p.Glu1194=) c.4345G= (p.Glu1449=) c.4534G= (p.Glu1512=) c.4327G= (p.Glu1443=) c.1030G= (p.Glu344=) c.1075G= (p.Glu359=) c.4531G= (p.Glu1511=) c.855G= c.1042G= (p.Glu348=) c.*4251G= (n.*4251G=) c.781G= (p.Glu261=) c.784G= (p.Glu262=) c.5-12553G= (n.5-12553G=) c.-43-1983G= (n.-43-1983G=) c.-98-26314G= (n.-98-26314G=) n.359G= n.4604G= n.4645G= | |
17 | g.43076504C>G | CA10592595 | BRCA1 | c.4465G>C (p.Glu1489Gln) c.4468G>C (p.Glu1490Gln) c.4342G>C (p.Glu1448Gln) c.4462G>C (p.Glu1488Gln) c.4390G>C (p.Glu1464Gln) c.1156G>C (p.Glu386Gln) c.1018G>C (p.Glu340Gln) c.3580G>C (p.Glu1194Gln) c.4345G>C (p.Glu1449Gln) c.4534G>C (p.Glu1512Gln) c.4327G>C (p.Glu1443Gln) c.1030G>C (p.Glu344Gln) c.1075G>C (p.Glu359Gln) c.4531G>C (p.Glu1511Gln) c.855G>C c.1042G>C (p.Glu348Gln) c.*4251G>C (n.*4251G>C) c.781G>C (p.Glu261Gln) c.784G>C (p.Glu262Gln) c.5-12553G>C (n.5-12553G>C) c.-43-1983G>C (n.-43-1983G>C) c.-98-26314G>C (n.-98-26314G>C) n.359G>C n.4604G>C n.4645G>C | |
17 | g.43076504C>T | CA10592596 | BRCA1 | c.4465G>A (p.Glu1489Lys) c.4468G>A (p.Glu1490Lys) c.4342G>A (p.Glu1448Lys) c.4462G>A (p.Glu1488Lys) c.4390G>A (p.Glu1464Lys) c.1156G>A (p.Glu386Lys) c.1018G>A (p.Glu340Lys) c.3580G>A (p.Glu1194Lys) c.4345G>A (p.Glu1449Lys) c.4534G>A (p.Glu1512Lys) c.4327G>A (p.Glu1443Lys) c.1030G>A (p.Glu344Lys) c.1075G>A (p.Glu359Lys) c.4531G>A (p.Glu1511Lys) c.855G>A c.1042G>A (p.Glu348Lys) c.*4251G>A (n.*4251G>A) c.781G>A (p.Glu261Lys) c.784G>A (p.Glu262Lys) c.5-12553G>A (n.5-12553G>A) c.-43-1983G>A (n.-43-1983G>A) c.-98-26314G>A (n.-98-26314G>A) n.359G>A n.4604G>A n.4645G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.43076505T>A | CA10592597 | BRCA1 | c.4464A>T (p.Lys1488Asn) c.4467A>T (p.Lys1489Asn) c.4341A>T (p.Lys1447Asn) c.4461A>T (p.Lys1487Asn) c.4389A>T (p.Lys1463Asn) c.1155A>T (p.Lys385Asn) c.1017A>T (p.Lys339Asn) c.3579A>T (p.Lys1193Asn) c.4344A>T (p.Lys1448Asn) c.4533A>T (p.Lys1511Asn) c.4326A>T (p.Lys1442Asn) c.1029A>T (p.Lys343Asn) c.1074A>T (p.Lys358Asn) c.4530A>T (p.Lys1510Asn) c.854A>T c.1041A>T (p.Lys347Asn) c.*4250A>T (n.*4250A>T) c.780A>T (p.Lys260Asn) c.783A>T (p.Lys261Asn) c.5-12554A>T (n.5-12554A>T) c.-43-1984A>T (n.-43-1984A>T) c.-98-26315A>T (n.-98-26315A>T) n.358A>T n.4603A>T n.4644A>T | dbSNP |
17 | g.43076505T>C | CA500146787 | BRCA1 | c.4464A>G (p.Lys1488=) c.4467A>G (p.Lys1489=) c.4341A>G (p.Lys1447=) c.4461A>G (p.Lys1487=) c.4389A>G (p.Lys1463=) c.1155A>G (p.Lys385=) c.1017A>G (p.Lys339=) c.3579A>G (p.Lys1193=) c.4344A>G (p.Lys1448=) c.4533A>G (p.Lys1511=) c.4326A>G (p.Lys1442=) c.1029A>G (p.Lys343=) c.1074A>G (p.Lys358=) c.4530A>G (p.Lys1510=) c.854A>G c.1041A>G (p.Lys347=) c.*4250A>G (n.*4250A>G) c.780A>G (p.Lys260=) c.783A>G (p.Lys261=) c.5-12554A>G (n.5-12554A>G) c.-43-1984A>G (n.-43-1984A>G) c.-98-26315A>G (n.-98-26315A>G) n.358A>G n.4603A>G n.4644A>G | dbSNP |
17 | g.43076505T>G | CA10592598 | BRCA1 | c.4464A>C (p.Lys1488Asn) c.4467A>C (p.Lys1489Asn) c.4341A>C (p.Lys1447Asn) c.4461A>C (p.Lys1487Asn) c.4389A>C (p.Lys1463Asn) c.1155A>C (p.Lys385Asn) c.1017A>C (p.Lys339Asn) c.3579A>C (p.Lys1193Asn) c.4344A>C (p.Lys1448Asn) c.4533A>C (p.Lys1511Asn) c.4326A>C (p.Lys1442Asn) c.1029A>C (p.Lys343Asn) c.1074A>C (p.Lys358Asn) c.4530A>C (p.Lys1510Asn) c.854A>C c.1041A>C (p.Lys347Asn) c.*4250A>C (n.*4250A>C) c.780A>C (p.Lys260Asn) c.783A>C (p.Lys261Asn) c.5-12554A>C (n.5-12554A>C) c.-43-1984A>C (n.-43-1984A>C) c.-98-26315A>C (n.-98-26315A>C) n.358A>C n.4603A>C n.4644A>C | |
17 | g.43076507dup | CA1139768279 | BRCA1 | c.4464dup (p.Glu1489ArgfsTer11) c.4467dup (p.Glu1490ArgfsTer11) c.4341dup (p.Glu1448ArgfsTer11) c.4461dup (p.Glu1488ArgfsTer11) c.4389dup (p.Glu1464ArgfsTer11) c.1155dup (p.Glu386ArgfsTer11) c.1017dup (p.Glu340ArgfsTer11) c.3579dup (p.Glu1194ArgfsTer11) c.4344dup (p.Glu1449ArgfsTer11) c.4533dup (p.Glu1512ArgfsTer11) c.4326dup (p.Glu1443ArgfsTer11) c.1029dup (p.Glu344ArgfsTer11) c.1074dup (p.Glu359ArgfsTer11) c.4530dup (p.Glu1511ArgfsTer11) c.854dup c.1041dup (p.Glu348ArgfsTer11) c.*4250dup (n.*4250dup) c.780dup (p.Glu261ArgfsTer11) c.783dup (p.Glu262ArgfsTer?) c.5-12554dup (n.5-12554dup) c.-43-1984dup (n.-43-1984dup) c.-98-26315dup (n.-98-26315dup) n.358dup n.4603dup n.4644dup | |
17 | g.43076507del | CA2573153988 | BRCA1 | c.4464del (p.Glu1489AsnfsTer15) c.4467del (p.Glu1490AsnfsTer15) c.4341del (p.Glu1448AsnfsTer15) c.4461del (p.Glu1488AsnfsTer15) c.4389del (p.Glu1464AsnfsTer15) c.1155del (p.Glu386AsnfsTer15) c.1017del (p.Glu340AsnfsTer15) c.3579del (p.Glu1194AsnfsTer15) c.4344del (p.Glu1449AsnfsTer15) c.4533del (p.Glu1512AsnfsTer15) c.4326del (p.Glu1443AsnfsTer15) c.1029del (p.Glu344AsnfsTer15) c.1074del (p.Glu359AsnfsTer15) c.4530del (p.Glu1511AsnfsTer15) c.854del c.1041del (p.Glu348AsnfsTer15) c.*4250del (n.*4250del) c.780del (p.Glu261AsnfsTer15) c.783del (p.Glu262AsnfsTer?) c.5-12554del (n.5-12554del) c.-43-1984del (n.-43-1984del) c.-98-26315del (n.-98-26315del) n.358del n.4603del n.4644del | ClinVar dbSNP |
17 | g.43076508_43076512dup | CA2499224414 | BRCA1 | c.4460_4464dup (p.Glu1489IlefsTer17) c.4463_4467dup (p.Glu1490IlefsTer17) c.4337_4341dup (p.Glu1448IlefsTer17) c.4457_4461dup (p.Glu1488IlefsTer17) c.4385_4389dup (p.Glu1464IlefsTer17) c.1151_1155dup (p.Glu386IlefsTer17) c.1013_1017dup (p.Glu340IlefsTer17) c.3575_3579dup (p.Glu1194IlefsTer17) c.4340_4344dup (p.Glu1449IlefsTer17) c.4529_4533dup (p.Glu1512IlefsTer17) c.4322_4326dup (p.Glu1443IlefsTer17) c.1025_1029dup (p.Glu344IlefsTer17) c.1070_1074dup (p.Glu359IlefsTer17) c.4526_4530dup (p.Glu1511IlefsTer17) c.850_854dup c.1037_1041dup (p.Glu348IlefsTer17) c.*4246_*4250dup (n.*4246_*4250dup) c.776_780dup (p.Glu261IlefsTer17) c.779_783dup (p.Glu262IlefsTer?) c.5-12558_5-12554dup (n.5-12558_5-12554dup) c.-43-1988_-43-1984dup (n.-43-1988_-43-1984dup) c.-98-26319_-98-26315dup (n.-98-26319_-98-26315dup) n.354_358dup n.4599_4603dup n.4640_4644dup | ClinVar dbSNP |
17 | g.43076506T>A | CA10592599 | BRCA1 | c.4463A>T (p.Lys1488Ile) c.4466A>T (p.Lys1489Ile) c.4340A>T (p.Lys1447Ile) c.4460A>T (p.Lys1487Ile) c.4388A>T (p.Lys1463Ile) c.1154A>T (p.Lys385Ile) c.1016A>T (p.Lys339Ile) c.3578A>T (p.Lys1193Ile) c.4343A>T (p.Lys1448Ile) c.4532A>T (p.Lys1511Ile) c.4325A>T (p.Lys1442Ile) c.1028A>T (p.Lys343Ile) c.1073A>T (p.Lys358Ile) c.4529A>T (p.Lys1510Ile) c.853A>T c.1040A>T (p.Lys347Ile) c.*4249A>T (n.*4249A>T) c.779A>T (p.Lys260Ile) c.782A>T (p.Lys261Ile) c.5-12555A>T (n.5-12555A>T) c.-43-1985A>T (n.-43-1985A>T) c.-98-26316A>T (n.-98-26316A>T) n.357A>T n.4602A>T n.4643A>T | ClinVar dbSNP |
17 | g.43076506T>C | CA002863 | BRCA1 | c.4463A>G (p.Lys1488Arg) c.4466A>G (p.Lys1489Arg) c.4340A>G (p.Lys1447Arg) c.4460A>G (p.Lys1487Arg) c.4388A>G (p.Lys1463Arg) c.1154A>G (p.Lys385Arg) c.1016A>G (p.Lys339Arg) c.3578A>G (p.Lys1193Arg) c.4343A>G (p.Lys1448Arg) c.4532A>G (p.Lys1511Arg) c.4325A>G (p.Lys1442Arg) c.1028A>G (p.Lys343Arg) c.1073A>G (p.Lys358Arg) c.4529A>G (p.Lys1510Arg) c.853A>G c.1040A>G (p.Lys347Arg) c.*4249A>G (n.*4249A>G) c.779A>G (p.Lys260Arg) c.782A>G (p.Lys261Arg) c.5-12555A>G (n.5-12555A>G) c.-43-1985A>G (n.-43-1985A>G) c.-98-26316A>G (n.-98-26316A>G) n.357A>G n.4602A>G n.4643A>G | ClinVar dbSNP |
17 | g.43076506T>G | CA10592600 | BRCA1 | c.4463A>C (p.Lys1488Thr) c.4466A>C (p.Lys1489Thr) c.4340A>C (p.Lys1447Thr) c.4460A>C (p.Lys1487Thr) c.4388A>C (p.Lys1463Thr) c.1154A>C (p.Lys385Thr) c.1016A>C (p.Lys339Thr) c.3578A>C (p.Lys1193Thr) c.4343A>C (p.Lys1448Thr) c.4532A>C (p.Lys1511Thr) c.4325A>C (p.Lys1442Thr) c.1028A>C (p.Lys343Thr) c.1073A>C (p.Lys358Thr) c.4529A>C (p.Lys1510Thr) c.853A>C c.1040A>C (p.Lys347Thr) c.*4249A>C (n.*4249A>C) c.779A>C (p.Lys260Thr) c.782A>C (p.Lys261Thr) c.5-12555A>C (n.5-12555A>C) c.-43-1985A>C (n.-43-1985A>C) c.-98-26316A>C (n.-98-26316A>C) n.357A>C n.4602A>C n.4643A>C | |
17 | g.43076506T= | CA2260775455 | BRCA1 | c.4463A= (p.Lys1488=) c.4466A= (p.Lys1489=) c.4340A= (p.Lys1447=) c.4460A= (p.Lys1487=) c.4388A= (p.Lys1463=) c.1154A= (p.Lys385=) c.1016A= (p.Lys339=) c.3578A= (p.Lys1193=) c.4343A= (p.Lys1448=) c.4532A= (p.Lys1511=) c.4325A= (p.Lys1442=) c.1028A= (p.Lys343=) c.1073A= (p.Lys358=) c.4529A= (p.Lys1510=) c.853A= c.1040A= (p.Lys347=) c.*4249A= (n.*4249A=) c.779A= (p.Lys260=) c.782A= (p.Lys261=) c.5-12555A= (n.5-12555A=) c.-43-1985A= (n.-43-1985A=) c.-98-26316A= (n.-98-26316A=) n.357A= n.4602A= n.4643A= | |
17 | g.43076507T>A | CA10592601 | BRCA1 | c.4462A>T (p.Lys1488Ter) c.4465A>T (p.Lys1489Ter) c.4339A>T (p.Lys1447Ter) c.4459A>T (p.Lys1487Ter) c.4387A>T (p.Lys1463Ter) c.1153A>T (p.Lys385Ter) c.1015A>T (p.Lys339Ter) c.3577A>T (p.Lys1193Ter) c.4342A>T (p.Lys1448Ter) c.4531A>T (p.Lys1511Ter) c.4324A>T (p.Lys1442Ter) c.1027A>T (p.Lys343Ter) c.1072A>T (p.Lys358Ter) c.4528A>T (p.Lys1510Ter) c.852A>T c.1039A>T (p.Lys347Ter) c.*4248A>T (n.*4248A>T) c.778A>T (p.Lys260Ter) c.781A>T (p.Lys261Ter) c.5-12556A>T (n.5-12556A>T) c.-43-1986A>T (n.-43-1986A>T) c.-98-26317A>T (n.-98-26317A>T) n.356A>T n.4601A>T n.4642A>T | |
17 | g.43076507T>C | CA10592602 | BRCA1 | c.4462A>G (p.Lys1488Glu) c.4465A>G (p.Lys1489Glu) c.4339A>G (p.Lys1447Glu) c.4459A>G (p.Lys1487Glu) c.4387A>G (p.Lys1463Glu) c.1153A>G (p.Lys385Glu) c.1015A>G (p.Lys339Glu) c.3577A>G (p.Lys1193Glu) c.4342A>G (p.Lys1448Glu) c.4531A>G (p.Lys1511Glu) c.4324A>G (p.Lys1442Glu) c.1027A>G (p.Lys343Glu) c.1072A>G (p.Lys358Glu) c.4528A>G (p.Lys1510Glu) c.852A>G c.1039A>G (p.Lys347Glu) c.*4248A>G (n.*4248A>G) c.778A>G (p.Lys260Glu) c.781A>G (p.Lys261Glu) c.5-12556A>G (n.5-12556A>G) c.-43-1986A>G (n.-43-1986A>G) c.-98-26317A>G (n.-98-26317A>G) n.356A>G n.4601A>G n.4642A>G | ClinVar dbSNP gnomAD v4 |
17 | g.43076507T>G | CA10592603 | BRCA1 | c.4462A>C (p.Lys1488Gln) c.4465A>C (p.Lys1489Gln) c.4339A>C (p.Lys1447Gln) c.4459A>C (p.Lys1487Gln) c.4387A>C (p.Lys1463Gln) c.1153A>C (p.Lys385Gln) c.1015A>C (p.Lys339Gln) c.3577A>C (p.Lys1193Gln) c.4342A>C (p.Lys1448Gln) c.4531A>C (p.Lys1511Gln) c.4324A>C (p.Lys1442Gln) c.1027A>C (p.Lys343Gln) c.1072A>C (p.Lys358Gln) c.4528A>C (p.Lys1510Gln) c.852A>C c.1039A>C (p.Lys347Gln) c.*4248A>C (n.*4248A>C) c.778A>C (p.Lys260Gln) c.781A>C (p.Lys261Gln) c.5-12556A>C (n.5-12556A>C) c.-43-1986A>C (n.-43-1986A>C) c.-98-26317A>C (n.-98-26317A>C) n.356A>C n.4601A>C n.4642A>C | |
17 | g.43076507T= | CA2260775456 | BRCA1 | c.4462A= (p.Lys1488=) c.4465A= (p.Lys1489=) c.4339A= (p.Lys1447=) c.4459A= (p.Lys1487=) c.4387A= (p.Lys1463=) c.1153A= (p.Lys385=) c.1015A= (p.Lys339=) c.3577A= (p.Lys1193=) c.4342A= (p.Lys1448=) c.4531A= (p.Lys1511=) c.4324A= (p.Lys1442=) c.1027A= (p.Lys343=) c.1072A= (p.Lys358=) c.4528A= (p.Lys1510=) c.852A= c.1039A= (p.Lys347=) c.*4248A= (n.*4248A=) c.778A= (p.Lys260=) c.781A= (p.Lys261=) c.5-12556A= (n.5-12556A=) c.-43-1986A= (n.-43-1986A=) c.-98-26317A= (n.-98-26317A=) n.356A= n.4601A= n.4642A= | |
17 | g.43076508A= | CA2260775457 | BRCA1 | c.4461T= (p.Asn1487=) c.4464T= (p.Asn1488=) c.4338T= (p.Asn1446=) c.4458T= (p.Asn1486=) c.4386T= (p.Asn1462=) c.1152T= (p.Asn384=) c.1014T= (p.Asn338=) c.3576T= (p.Asn1192=) c.4341T= (p.Asn1447=) c.4530T= (p.Asn1510=) c.4323T= (p.Asn1441=) c.1026T= (p.Asn342=) c.1071T= (p.Asn357=) c.4527T= (p.Asn1509=) c.851T= c.1038T= (p.Asn346=) c.*4247T= (n.*4247T=) c.777T= (p.Asn259=) c.780T= (p.Asn260=) c.5-12557T= (n.5-12557T=) c.-43-1987T= (n.-43-1987T=) c.-98-26318T= (n.-98-26318T=) n.355T= n.4600T= n.4641T= | |
17 | g.43076508A>C | CA10592604 | BRCA1 | c.4461T>G (p.Asn1487Lys) c.4464T>G (p.Asn1488Lys) c.4338T>G (p.Asn1446Lys) c.4458T>G (p.Asn1486Lys) c.4386T>G (p.Asn1462Lys) c.1152T>G (p.Asn384Lys) c.1014T>G (p.Asn338Lys) c.3576T>G (p.Asn1192Lys) c.4341T>G (p.Asn1447Lys) c.4530T>G (p.Asn1510Lys) c.4323T>G (p.Asn1441Lys) c.1026T>G (p.Asn342Lys) c.1071T>G (p.Asn357Lys) c.4527T>G (p.Asn1509Lys) c.851T>G c.1038T>G (p.Asn346Lys) c.*4247T>G (n.*4247T>G) c.777T>G (p.Asn259Lys) c.780T>G (p.Asn260Lys) c.5-12557T>G (n.5-12557T>G) c.-43-1987T>G (n.-43-1987T>G) c.-98-26318T>G (n.-98-26318T>G) n.355T>G n.4600T>G n.4641T>G | |
17 | g.43076508A>G | CA500146788 | BRCA1 | c.4461T>C (p.Asn1487=) c.4464T>C (p.Asn1488=) c.4338T>C (p.Asn1446=) c.4458T>C (p.Asn1486=) c.4386T>C (p.Asn1462=) c.1152T>C (p.Asn384=) c.1014T>C (p.Asn338=) c.3576T>C (p.Asn1192=) c.4341T>C (p.Asn1447=) c.4530T>C (p.Asn1510=) c.4323T>C (p.Asn1441=) c.1026T>C (p.Asn342=) c.1071T>C (p.Asn357=) c.4527T>C (p.Asn1509=) c.851T>C c.1038T>C (p.Asn346=) c.*4247T>C (n.*4247T>C) c.777T>C (p.Asn259=) c.780T>C (p.Asn260=) c.5-12557T>C (n.5-12557T>C) c.-43-1987T>C (n.-43-1987T>C) c.-98-26318T>C (n.-98-26318T>C) n.355T>C n.4600T>C n.4641T>C | |
17 | g.43076508A>T | CA10592605 | BRCA1 | c.4461T>A (p.Asn1487Lys) c.4464T>A (p.Asn1488Lys) c.4338T>A (p.Asn1446Lys) c.4458T>A (p.Asn1486Lys) c.4386T>A (p.Asn1462Lys) c.1152T>A (p.Asn384Lys) c.1014T>A (p.Asn338Lys) c.3576T>A (p.Asn1192Lys) c.4341T>A (p.Asn1447Lys) c.4530T>A (p.Asn1510Lys) c.4323T>A (p.Asn1441Lys) c.1026T>A (p.Asn342Lys) c.1071T>A (p.Asn357Lys) c.4527T>A (p.Asn1509Lys) c.851T>A c.1038T>A (p.Asn346Lys) c.*4247T>A (n.*4247T>A) c.777T>A (p.Asn259Lys) c.780T>A (p.Asn260Lys) c.5-12557T>A (n.5-12557T>A) c.-43-1987T>A (n.-43-1987T>A) c.-98-26318T>A (n.-98-26318T>A) n.355T>A n.4600T>A n.4641T>A | |
17 | g.43076509T>A | CA10592606 | BRCA1 | c.4460A>T (p.Asn1487Ile) c.4463A>T (p.Asn1488Ile) c.4337A>T (p.Asn1446Ile) c.4457A>T (p.Asn1486Ile) c.4385A>T (p.Asn1462Ile) c.1151A>T (p.Asn384Ile) c.1013A>T (p.Asn338Ile) c.3575A>T (p.Asn1192Ile) c.4340A>T (p.Asn1447Ile) c.4529A>T (p.Asn1510Ile) c.4322A>T (p.Asn1441Ile) c.1025A>T (p.Asn342Ile) c.1070A>T (p.Asn357Ile) c.4526A>T (p.Asn1509Ile) c.850A>T c.1037A>T (p.Asn346Ile) c.*4246A>T (n.*4246A>T) c.776A>T (p.Asn259Ile) c.779A>T (p.Asn260Ile) c.5-12558A>T (n.5-12558A>T) c.-43-1988A>T (n.-43-1988A>T) c.-98-26319A>T (n.-98-26319A>T) n.354A>T n.4599A>T n.4640A>T | |
17 | g.43076509T>C | CA10592607 | BRCA1 | c.4460A>G (p.Asn1487Ser) c.4463A>G (p.Asn1488Ser) c.4337A>G (p.Asn1446Ser) c.4457A>G (p.Asn1486Ser) c.4385A>G (p.Asn1462Ser) c.1151A>G (p.Asn384Ser) c.1013A>G (p.Asn338Ser) c.3575A>G (p.Asn1192Ser) c.4340A>G (p.Asn1447Ser) c.4529A>G (p.Asn1510Ser) c.4322A>G (p.Asn1441Ser) c.1025A>G (p.Asn342Ser) c.1070A>G (p.Asn357Ser) c.4526A>G (p.Asn1509Ser) c.850A>G c.1037A>G (p.Asn346Ser) c.*4246A>G (n.*4246A>G) c.776A>G (p.Asn259Ser) c.779A>G (p.Asn260Ser) c.5-12558A>G (n.5-12558A>G) c.-43-1988A>G (n.-43-1988A>G) c.-98-26319A>G (n.-98-26319A>G) n.354A>G n.4599A>G n.4640A>G | |
17 | g.43076509T>G | CA10592608 | BRCA1 | c.4460A>C (p.Asn1487Thr) c.4463A>C (p.Asn1488Thr) c.4337A>C (p.Asn1446Thr) c.4457A>C (p.Asn1486Thr) c.4385A>C (p.Asn1462Thr) c.1151A>C (p.Asn384Thr) c.1013A>C (p.Asn338Thr) c.3575A>C (p.Asn1192Thr) c.4340A>C (p.Asn1447Thr) c.4529A>C (p.Asn1510Thr) c.4322A>C (p.Asn1441Thr) c.1025A>C (p.Asn342Thr) c.1070A>C (p.Asn357Thr) c.4526A>C (p.Asn1509Thr) c.850A>C c.1037A>C (p.Asn346Thr) c.*4246A>C (n.*4246A>C) c.776A>C (p.Asn259Thr) c.779A>C (p.Asn260Thr) c.5-12558A>C (n.5-12558A>C) c.-43-1988A>C (n.-43-1988A>C) c.-98-26319A>C (n.-98-26319A>C) n.354A>C n.4599A>C n.4640A>C | ClinVar dbSNP |
17 | g.43076509T= | CA2260775458 | BRCA1 | c.4460A= (p.Asn1487=) c.4463A= (p.Asn1488=) c.4337A= (p.Asn1446=) c.4457A= (p.Asn1486=) c.4385A= (p.Asn1462=) c.1151A= (p.Asn384=) c.1013A= (p.Asn338=) c.3575A= (p.Asn1192=) c.4340A= (p.Asn1447=) c.4529A= (p.Asn1510=) c.4322A= (p.Asn1441=) c.1025A= (p.Asn342=) c.1070A= (p.Asn357=) c.4526A= (p.Asn1509=) c.850A= c.1037A= (p.Asn346=) c.*4246A= (n.*4246A=) c.776A= (p.Asn259=) c.779A= (p.Asn260=) c.5-12558A= (n.5-12558A=) c.-43-1988A= (n.-43-1988A=) c.-98-26319A= (n.-98-26319A=) n.354A= n.4599A= n.4640A= | |
17 | g.43076513dup | CA002862 | BRCA1 | c.4460dup (p.Asn1487LysfsTer2) c.4463dup (p.Asn1488LysfsTer2) c.4337dup (p.Asn1446LysfsTer2) c.4457dup (p.Asn1486LysfsTer2) c.4385dup (p.Asn1462LysfsTer2) c.1151dup (p.Asn384LysfsTer2) c.1013dup (p.Asn338LysfsTer2) c.3575dup (p.Asn1192LysfsTer2) c.4340dup (p.Asn1447LysfsTer2) c.4529dup (p.Asn1510LysfsTer2) c.4322dup (p.Asn1441LysfsTer2) c.1025dup (p.Asn342LysfsTer2) c.1070dup (p.Asn357LysfsTer2) c.4526dup (p.Asn1509LysfsTer2) c.850dup c.1037dup (p.Asn346LysfsTer2) c.*4246dup (n.*4246dup) c.776dup (p.Asn259LysfsTer2) c.779dup (p.Asn260LysfsTer2) c.5-12558dup (n.5-12558dup) c.-43-1988dup (n.-43-1988dup) c.-98-26319dup (n.-98-26319dup) n.354dup n.4599dup n.4640dup | ClinVar dbSNP |
17 | g.43076510T>A | CA10592609 | BRCA1 | c.4459A>T (p.Asn1487Tyr) c.4462A>T (p.Asn1488Tyr) c.4336A>T (p.Asn1446Tyr) c.4456A>T (p.Asn1486Tyr) c.4384A>T (p.Asn1462Tyr) c.1150A>T (p.Asn384Tyr) c.1012A>T (p.Asn338Tyr) c.3574A>T (p.Asn1192Tyr) c.4339A>T (p.Asn1447Tyr) c.4528A>T (p.Asn1510Tyr) c.4321A>T (p.Asn1441Tyr) c.1024A>T (p.Asn342Tyr) c.1069A>T (p.Asn357Tyr) c.4525A>T (p.Asn1509Tyr) c.849A>T c.1036A>T (p.Asn346Tyr) c.*4245A>T (n.*4245A>T) c.775A>T (p.Asn259Tyr) c.778A>T (p.Asn260Tyr) c.5-12559A>T (n.5-12559A>T) c.-43-1989A>T (n.-43-1989A>T) c.-98-26320A>T (n.-98-26320A>T) n.353A>T n.4598A>T n.4639A>T | |
17 | g.43076510T>C | CA10592610 | BRCA1 | c.4459A>G (p.Asn1487Asp) c.4462A>G (p.Asn1488Asp) c.4336A>G (p.Asn1446Asp) c.4456A>G (p.Asn1486Asp) c.4384A>G (p.Asn1462Asp) c.1150A>G (p.Asn384Asp) c.1012A>G (p.Asn338Asp) c.3574A>G (p.Asn1192Asp) c.4339A>G (p.Asn1447Asp) c.4528A>G (p.Asn1510Asp) c.4321A>G (p.Asn1441Asp) c.1024A>G (p.Asn342Asp) c.1069A>G (p.Asn357Asp) c.4525A>G (p.Asn1509Asp) c.849A>G c.1036A>G (p.Asn346Asp) c.*4245A>G (n.*4245A>G) c.775A>G (p.Asn259Asp) c.778A>G (p.Asn260Asp) c.5-12559A>G (n.5-12559A>G) c.-43-1989A>G (n.-43-1989A>G) c.-98-26320A>G (n.-98-26320A>G) n.353A>G n.4598A>G n.4639A>G | |
17 | g.43076510T>G | CA10592611 | BRCA1 | c.4459A>C (p.Asn1487His) c.4462A>C (p.Asn1488His) c.4336A>C (p.Asn1446His) c.4456A>C (p.Asn1486His) c.4384A>C (p.Asn1462His) c.1150A>C (p.Asn384His) c.1012A>C (p.Asn338His) c.3574A>C (p.Asn1192His) c.4339A>C (p.Asn1447His) c.4528A>C (p.Asn1510His) c.4321A>C (p.Asn1441His) c.1024A>C (p.Asn342His) c.1069A>C (p.Asn357His) c.4525A>C (p.Asn1509His) c.849A>C c.1036A>C (p.Asn346His) c.*4245A>C (n.*4245A>C) c.775A>C (p.Asn259His) c.778A>C (p.Asn260His) c.5-12559A>C (n.5-12559A>C) c.-43-1989A>C (n.-43-1989A>C) c.-98-26320A>C (n.-98-26320A>C) n.353A>C n.4598A>C n.4639A>C | |
17 | g.43076511T>A | CA10592612 | BRCA1 | c.4458A>T (p.Lys1486Asn) c.4461A>T (p.Lys1487Asn) c.4335A>T (p.Lys1445Asn) c.4455A>T (p.Lys1485Asn) c.4383A>T (p.Lys1461Asn) c.1149A>T (p.Lys383Asn) c.1011A>T (p.Lys337Asn) c.3573A>T (p.Lys1191Asn) c.4338A>T (p.Lys1446Asn) c.4527A>T (p.Lys1509Asn) c.4320A>T (p.Lys1440Asn) c.1023A>T (p.Lys341Asn) c.1068A>T (p.Lys356Asn) c.4524A>T (p.Lys1508Asn) c.848A>T c.1035A>T (p.Lys345Asn) c.*4244A>T (n.*4244A>T) c.774A>T (p.Lys258Asn) c.777A>T (p.Lys259Asn) c.5-12560A>T (n.5-12560A>T) c.-43-1990A>T (n.-43-1990A>T) c.-98-26321A>T (n.-98-26321A>T) n.352A>T n.4597A>T n.4638A>T | |
17 | g.43076511T>C | CA500146789 | BRCA1 | c.4458A>G (p.Lys1486=) c.4461A>G (p.Lys1487=) c.4335A>G (p.Lys1445=) c.4455A>G (p.Lys1485=) c.4383A>G (p.Lys1461=) c.1149A>G (p.Lys383=) c.1011A>G (p.Lys337=) c.3573A>G (p.Lys1191=) c.4338A>G (p.Lys1446=) c.4527A>G (p.Lys1509=) c.4320A>G (p.Lys1440=) c.1023A>G (p.Lys341=) c.1068A>G (p.Lys356=) c.4524A>G (p.Lys1508=) c.848A>G c.1035A>G (p.Lys345=) c.*4244A>G (n.*4244A>G) c.774A>G (p.Lys258=) c.777A>G (p.Lys259=) c.5-12560A>G (n.5-12560A>G) c.-43-1990A>G (n.-43-1990A>G) c.-98-26321A>G (n.-98-26321A>G) n.352A>G n.4597A>G n.4638A>G | |
17 | g.43076511T>G | CA10592613 | BRCA1 | c.4458A>C (p.Lys1486Asn) c.4461A>C (p.Lys1487Asn) c.4335A>C (p.Lys1445Asn) c.4455A>C (p.Lys1485Asn) c.4383A>C (p.Lys1461Asn) c.1149A>C (p.Lys383Asn) c.1011A>C (p.Lys337Asn) c.3573A>C (p.Lys1191Asn) c.4338A>C (p.Lys1446Asn) c.4527A>C (p.Lys1509Asn) c.4320A>C (p.Lys1440Asn) c.1023A>C (p.Lys341Asn) c.1068A>C (p.Lys356Asn) c.4524A>C (p.Lys1508Asn) c.848A>C c.1035A>C (p.Lys345Asn) c.*4244A>C (n.*4244A>C) c.774A>C (p.Lys258Asn) c.777A>C (p.Lys259Asn) c.5-12560A>C (n.5-12560A>C) c.-43-1990A>C (n.-43-1990A>C) c.-98-26321A>C (n.-98-26321A>C) n.352A>C n.4597A>C n.4638A>C | |
17 | g.43076512T>A | CA10592614 | BRCA1 | c.4457A>T (p.Lys1486Ile) c.4460A>T (p.Lys1487Ile) c.4334A>T (p.Lys1445Ile) c.4454A>T (p.Lys1485Ile) c.4382A>T (p.Lys1461Ile) c.1148A>T (p.Lys383Ile) c.1010A>T (p.Lys337Ile) c.3572A>T (p.Lys1191Ile) c.4337A>T (p.Lys1446Ile) c.4526A>T (p.Lys1509Ile) c.4319A>T (p.Lys1440Ile) c.1022A>T (p.Lys341Ile) c.1067A>T (p.Lys356Ile) c.4523A>T (p.Lys1508Ile) c.847A>T c.1034A>T (p.Lys345Ile) c.*4243A>T (n.*4243A>T) c.773A>T (p.Lys258Ile) c.776A>T (p.Lys259Ile) c.5-12561A>T (n.5-12561A>T) c.-43-1991A>T (n.-43-1991A>T) c.-98-26322A>T (n.-98-26322A>T) n.351A>T n.4596A>T n.4637A>T | dbSNP |
17 | g.43076512T>C | CA002861 | BRCA1 | c.4457A>G (p.Lys1486Arg) c.4460A>G (p.Lys1487Arg) c.4334A>G (p.Lys1445Arg) c.4454A>G (p.Lys1485Arg) c.4382A>G (p.Lys1461Arg) c.1148A>G (p.Lys383Arg) c.1010A>G (p.Lys337Arg) c.3572A>G (p.Lys1191Arg) c.4337A>G (p.Lys1446Arg) c.4526A>G (p.Lys1509Arg) c.4319A>G (p.Lys1440Arg) c.1022A>G (p.Lys341Arg) c.1067A>G (p.Lys356Arg) c.4523A>G (p.Lys1508Arg) c.847A>G c.1034A>G (p.Lys345Arg) c.*4243A>G (n.*4243A>G) c.773A>G (p.Lys258Arg) c.776A>G (p.Lys259Arg) c.5-12561A>G (n.5-12561A>G) c.-43-1991A>G (n.-43-1991A>G) c.-98-26322A>G (n.-98-26322A>G) n.351A>G n.4596A>G n.4637A>G | ClinVar dbSNP |
17 | g.43076512T>G | CA10592615 | BRCA1 | c.4457A>C (p.Lys1486Thr) c.4460A>C (p.Lys1487Thr) c.4334A>C (p.Lys1445Thr) c.4454A>C (p.Lys1485Thr) c.4382A>C (p.Lys1461Thr) c.1148A>C (p.Lys383Thr) c.1010A>C (p.Lys337Thr) c.3572A>C (p.Lys1191Thr) c.4337A>C (p.Lys1446Thr) c.4526A>C (p.Lys1509Thr) c.4319A>C (p.Lys1440Thr) c.1022A>C (p.Lys341Thr) c.1067A>C (p.Lys356Thr) c.4523A>C (p.Lys1508Thr) c.847A>C c.1034A>C (p.Lys345Thr) c.*4243A>C (n.*4243A>C) c.773A>C (p.Lys258Thr) c.776A>C (p.Lys259Thr) c.5-12561A>C (n.5-12561A>C) c.-43-1991A>C (n.-43-1991A>C) c.-98-26322A>C (n.-98-26322A>C) n.351A>C n.4596A>C n.4637A>C | |
17 | g.43076512T= | CA2260775459 | BRCA1 | c.4457A= (p.Lys1486=) c.4460A= (p.Lys1487=) c.4334A= (p.Lys1445=) c.4454A= (p.Lys1485=) c.4382A= (p.Lys1461=) c.1148A= (p.Lys383=) c.1010A= (p.Lys337=) c.3572A= (p.Lys1191=) c.4337A= (p.Lys1446=) c.4526A= (p.Lys1509=) c.4319A= (p.Lys1440=) c.1022A= (p.Lys341=) c.1067A= (p.Lys356=) c.4523A= (p.Lys1508=) c.847A= c.1034A= (p.Lys345=) c.*4243A= (n.*4243A=) c.773A= (p.Lys258=) c.776A= (p.Lys259=) c.5-12561A= (n.5-12561A=) c.-43-1991A= (n.-43-1991A=) c.-98-26322A= (n.-98-26322A=) n.351A= n.4596A= n.4637A= | |
17 | g.43076513T>A | CA10592616 | BRCA1 | c.4456A>T (p.Lys1486Ter) c.4459A>T (p.Lys1487Ter) c.4333A>T (p.Lys1445Ter) c.4453A>T (p.Lys1485Ter) c.4381A>T (p.Lys1461Ter) c.1147A>T (p.Lys383Ter) c.1009A>T (p.Lys337Ter) c.3571A>T (p.Lys1191Ter) c.4336A>T (p.Lys1446Ter) c.4525A>T (p.Lys1509Ter) c.4318A>T (p.Lys1440Ter) c.1021A>T (p.Lys341Ter) c.1066A>T (p.Lys356Ter) c.4522A>T (p.Lys1508Ter) c.846A>T c.1033A>T (p.Lys345Ter) c.*4242A>T (n.*4242A>T) c.772A>T (p.Lys258Ter) c.775A>T (p.Lys259Ter) c.5-12562A>T (n.5-12562A>T) c.-43-1992A>T (n.-43-1992A>T) c.-98-26323A>T (n.-98-26323A>T) n.350A>T n.4595A>T n.4636A>T | |
17 | g.43076513T>C | CA10592617 | BRCA1 | c.4456A>G (p.Lys1486Glu) c.4459A>G (p.Lys1487Glu) c.4333A>G (p.Lys1445Glu) c.4453A>G (p.Lys1485Glu) c.4381A>G (p.Lys1461Glu) c.1147A>G (p.Lys383Glu) c.1009A>G (p.Lys337Glu) c.3571A>G (p.Lys1191Glu) c.4336A>G (p.Lys1446Glu) c.4525A>G (p.Lys1509Glu) c.4318A>G (p.Lys1440Glu) c.1021A>G (p.Lys341Glu) c.1066A>G (p.Lys356Glu) c.4522A>G (p.Lys1508Glu) c.846A>G c.1033A>G (p.Lys345Glu) c.*4242A>G (n.*4242A>G) c.772A>G (p.Lys258Glu) c.775A>G (p.Lys259Glu) c.5-12562A>G (n.5-12562A>G) c.-43-1992A>G (n.-43-1992A>G) c.-98-26323A>G (n.-98-26323A>G) n.350A>G n.4595A>G n.4636A>G | ClinVar |