| 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.43076551_43079399del | CA10590062 | BRCA1 | c.4358-2788_4418del c.4358-2785_4421del c.4232-2785_4295del c.4352-2785_4415del c.4280-2785_4343del c.1046-2785_1109del c.908-2785_971del c.3470-2785_3533del c.4235-2785_4298del c.4358_4487del c.4217-2785_4280del c.923-2788_983del c.968-2788_1028del c.4358_4484del c.679_808del c.932-2785_995del c.*4141-2785_*4204del c.652-2788_712del c.1049-2788_1109del c.671-2785_734del c.674-2785_737del c.5-15448_5-12600del (n.5-15448_5-12600del) c.-43-4878_-43-2030del (n.-43-4878_-43-2030del) c.-98-29209_-98-26361del (n.-98-29209_-98-26361del) n.252-2788_312del n.4494-2785_4557del n.4535-2785_4598del | |
| 17 | g.43076553_43076572delinsAGAAAGGCCTTCTGGATTCT | CA2260775496 | BRCA1 | c.4397_4416delinsAGAATCCAGAAGGCCTTTCT (p.Gln1466=) c.4400_4419delinsAGAATCCAGAAGGCCTTTCT (p.Gln1467=) c.4274_4293delinsAGAATCCAGAAGGCCTTTCT (p.Gln1425=) c.4394_4413delinsAGAATCCAGAAGGCCTTTCT (p.Gln1465=) c.4322_4341delinsAGAATCCAGAAGGCCTTTCT (p.Gln1441=) c.1088_1107delinsAGAATCCAGAAGGCCTTTCT (p.Gln363=) c.950_969delinsAGAATCCAGAAGGCCTTTCT (p.Gln317=) c.3512_3531delinsAGAATCCAGAAGGCCTTTCT (p.Gln1171=) c.4277_4296delinsAGAATCCAGAAGGCCTTTCT (p.Gln1426=) c.4466_4485delinsAGAATCCAGAAGGCCTTTCT (p.Gln1489=) c.4259_4278delinsAGAATCCAGAAGGCCTTTCT (p.Gln1420=) c.962_981delinsAGAATCCAGAAGGCCTTTCT (p.Gln321=) c.1007_1026delinsAGAATCCAGAAGGCCTTTCT (p.Gln336=) c.4463_4482delinsAGAATCCAGAAGGCCTTTCT (p.Gln1488=) c.787_806delinsAGAATCCAGAAGGCCTTTCT c.974_993delinsAGAATCCAGAAGGCCTTTCT (p.Gln325=) c.*4183_*4202delinsAGAATCCAGAAGGCCTTTCT (n.*4183_*4202delinsAGAATCCAGAAGGCCTTTCT) c.691_710delinsAGAATCCAGAAGGCCTTTCT c.713_732delinsAGAATCCAGAAGGCCTTTCT (p.Gln238=) c.716_735delinsAGAATCCAGAAGGCCTTTCT (p.Gln239=) c.5-12621_5-12602delinsAGAATCCAGAAGGCCTTTCT (n.5-12621_5-12602delinsAGAATCCAGAAGGCCTTTCT) c.-43-2051_-43-2032delinsAGAATCCAGAAGGCCTTTCT (n.-43-2051_-43-2032delinsAGAATCCAGAAGGCCTTTCT) c.-98-26382_-98-26363delinsAGAATCCAGAAGGCCTTTCT (n.-98-26382_-98-26363delinsAGAATCCAGAAGGCCTTTCT) n.291_310delinsAGAATCCAGAAGGCCTTTCT n.4536_4555delinsAGAATCCAGAAGGCCTTTCT n.4577_4596delinsAGAATCCAGAAGGCCTTTCT | |
| 17 | g.43076554_43076572delinsAAA | CA10580522 | BRCA1 | c.4397_4415delinsTTT (p.Gln1466LeufsTer?) c.4400_4418delinsTTT (p.Gln1467LeufsTer?) c.4274_4292delinsTTT (p.Gln1425LeufsTer?) c.4394_4412delinsTTT (p.Gln1465LeufsTer?) c.4322_4340delinsTTT (p.Gln1441LeufsTer?) c.1088_1106delinsTTT (p.Gln363LeufsTer?) c.950_968delinsTTT (p.Gln317LeufsTer?) c.3512_3530delinsTTT (p.Gln1171LeufsTer?) c.4277_4295delinsTTT (p.Gln1426LeufsTer?) c.4466_4484delinsTTT (p.Gln1489LeufsTer?) c.4259_4277delinsTTT (p.Gln1420LeufsTer?) c.962_980delinsTTT (p.Gln321LeufsTer?) c.1007_1025delinsTTT (p.Gln336LeufsTer?) c.4463_4481delinsTTT (p.Gln1488LeufsTer?) c.787_805delinsTTT c.974_992delinsTTT (p.Gln325LeufsTer?) c.*4183_*4201delinsTTT (n.*4183_*4201delinsTTT) c.691_709delinsTTT c.713_731delinsTTT (p.Gln238LeufsTer?) c.716_734delinsTTT (p.Gln239LeufsTer?) c.5-12621_5-12603delinsTTT (n.5-12621_5-12603delinsTTT) c.-43-2051_-43-2033delinsTTT (n.-43-2051_-43-2033delinsTTT) c.-98-26382_-98-26364delinsTTT (n.-98-26382_-98-26364delinsTTT) n.291_309delinsTTT n.4536_4554delinsTTT n.4577_4595delinsTTT | ClinVar dbSNP |
| 17 | g.43076557_43076572del | CA2695225924 | BRCA1 | c.4397_4412del (p.Gln1466LeufsTer?) c.4400_4415del (p.Gln1467LeufsTer?) c.4274_4289del (p.Gln1425LeufsTer?) c.4394_4409del (p.Gln1465LeufsTer?) c.4322_4337del (p.Gln1441LeufsTer?) c.1088_1103del (p.Gln363LeufsTer?) c.950_965del (p.Gln317LeufsTer?) c.3512_3527del (p.Gln1171LeufsTer?) c.4277_4292del (p.Gln1426LeufsTer?) c.4466_4481del (p.Gln1489LeufsTer?) c.4259_4274del (p.Gln1420LeufsTer?) c.962_977del (p.Gln321LeufsTer?) c.1007_1022del (p.Gln336LeufsTer?) c.4463_4478del (p.Gln1488LeufsTer?) c.787_802del c.974_989del (p.Gln325LeufsTer?) c.*4183_*4198del (n.*4183_*4198del) c.691_706del c.713_728del (p.Gln238LeufsTer?) c.716_731del (p.Gln239LeufsTer?) c.5-12621_5-12606del (n.5-12621_5-12606del) c.-43-2051_-43-2036del (n.-43-2051_-43-2036del) c.-98-26382_-98-26367del (n.-98-26382_-98-26367del) n.291_306del n.4536_4551del n.4577_4592del | |
| 17 | g.43076561del | CA16620424 | BRCA1 | c.4409del (p.Gly1470AlafsTer?) c.4412del (p.Gly1471AlafsTer?) c.4286del (p.Gly1429AlafsTer?) c.4406del (p.Gly1469AlafsTer?) c.4334del (p.Gly1445AlafsTer?) c.1100del (p.Gly367AlafsTer?) c.962del (p.Gly321AlafsTer?) c.3524del (p.Gly1175AlafsTer?) c.4289del (p.Gly1430AlafsTer?) c.4478del (p.Gly1493AlafsTer?) c.4271del (p.Gly1424AlafsTer?) c.974del (p.Gly325AlafsTer?) c.1019del (p.Gly340AlafsTer?) c.4475del (p.Gly1492AlafsTer?) c.799del c.986del (p.Gly329AlafsTer?) c.*4195del (n.*4195del) c.703del c.725del (p.Gly242AlafsTer?) c.728del (p.Gly243AlafsTer?) c.5-12609del (n.5-12609del) c.-43-2039del (n.-43-2039del) c.-98-26370del (n.-98-26370del) n.303del n.4548del n.4589del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.43076561C>A | CA10592712 | BRCA1 | c.4408G>T (p.Gly1470Cys) c.4411G>T (p.Gly1471Cys) c.4285G>T (p.Gly1429Cys) c.4405G>T (p.Gly1469Cys) c.4333G>T (p.Gly1445Cys) c.1099G>T (p.Gly367Cys) c.961G>T (p.Gly321Cys) c.3523G>T (p.Gly1175Cys) c.4288G>T (p.Gly1430Cys) c.4477G>T (p.Gly1493Cys) c.4270G>T (p.Gly1424Cys) c.973G>T (p.Gly325Cys) c.1018G>T (p.Gly340Cys) c.4474G>T (p.Gly1492Cys) c.798G>T c.985G>T (p.Gly329Cys) c.*4194G>T (n.*4194G>T) c.702G>T c.724G>T (p.Gly242Cys) c.727G>T (p.Gly243Cys) c.5-12610G>T (n.5-12610G>T) c.-43-2040G>T (n.-43-2040G>T) c.-98-26371G>T (n.-98-26371G>T) n.302G>T n.4547G>T n.4588G>T | dbSNP |
| 17 | g.43076561C= | CA2260775506 | BRCA1 | c.4408G= (p.Gly1470=) c.4411G= (p.Gly1471=) c.4285G= (p.Gly1429=) c.4405G= (p.Gly1469=) c.4333G= (p.Gly1445=) c.1099G= (p.Gly367=) c.961G= (p.Gly321=) c.3523G= (p.Gly1175=) c.4288G= (p.Gly1430=) c.4477G= (p.Gly1493=) c.4270G= (p.Gly1424=) c.973G= (p.Gly325=) c.1018G= (p.Gly340=) c.4474G= (p.Gly1492=) c.798G= c.985G= (p.Gly329=) c.*4194G= (n.*4194G=) c.702G= c.724G= (p.Gly242=) c.727G= (p.Gly243=) c.5-12610G= (n.5-12610G=) c.-43-2040G= (n.-43-2040G=) c.-98-26371G= (n.-98-26371G=) n.302G= n.4547G= n.4588G= | |
| 17 | g.43076561C>G | CA10592713 | BRCA1 | c.4408G>C (p.Gly1470Arg) c.4411G>C (p.Gly1471Arg) c.4285G>C (p.Gly1429Arg) c.4405G>C (p.Gly1469Arg) c.4333G>C (p.Gly1445Arg) c.1099G>C (p.Gly367Arg) c.961G>C (p.Gly321Arg) c.3523G>C (p.Gly1175Arg) c.4288G>C (p.Gly1430Arg) c.4477G>C (p.Gly1493Arg) c.4270G>C (p.Gly1424Arg) c.973G>C (p.Gly325Arg) c.1018G>C (p.Gly340Arg) c.4474G>C (p.Gly1492Arg) c.798G>C c.985G>C (p.Gly329Arg) c.*4194G>C (n.*4194G>C) c.702G>C c.724G>C (p.Gly242Arg) c.727G>C (p.Gly243Arg) c.5-12610G>C (n.5-12610G>C) c.-43-2040G>C (n.-43-2040G>C) c.-98-26371G>C (n.-98-26371G>C) n.302G>C n.4547G>C n.4588G>C | dbSNP COSMIC COSMIC |
| 17 | g.43076561C>T | CA10592714 | BRCA1 | c.4408G>A (p.Gly1470Ser) c.4411G>A (p.Gly1471Ser) c.4285G>A (p.Gly1429Ser) c.4405G>A (p.Gly1469Ser) c.4333G>A (p.Gly1445Ser) c.1099G>A (p.Gly367Ser) c.961G>A (p.Gly321Ser) c.3523G>A (p.Gly1175Ser) c.4288G>A (p.Gly1430Ser) c.4477G>A (p.Gly1493Ser) c.4270G>A (p.Gly1424Ser) c.973G>A (p.Gly325Ser) c.1018G>A (p.Gly340Ser) c.4474G>A (p.Gly1492Ser) c.798G>A c.985G>A (p.Gly329Ser) c.*4194G>A (n.*4194G>A) c.702G>A c.724G>A (p.Gly242Ser) c.727G>A (p.Gly243Ser) c.5-12610G>A (n.5-12610G>A) c.-43-2040G>A (n.-43-2040G>A) c.-98-26371G>A (n.-98-26371G>A) n.302G>A n.4547G>A n.4588G>A | ClinVar dbSNP |
| 17 | g.43076562T>A | CA002829 | BRCA1 | c.4407A>T (p.Glu1469Asp) c.4410A>T (p.Glu1470Asp) c.4284A>T (p.Glu1428Asp) c.4404A>T (p.Glu1468Asp) c.4332A>T (p.Glu1444Asp) c.1098A>T (p.Glu366Asp) c.960A>T (p.Glu320Asp) c.3522A>T (p.Glu1174Asp) c.4287A>T (p.Glu1429Asp) c.4476A>T (p.Glu1492Asp) c.4269A>T (p.Glu1423Asp) c.972A>T (p.Glu324Asp) c.1017A>T (p.Glu339Asp) c.4473A>T (p.Glu1491Asp) c.797A>T c.984A>T (p.Glu328Asp) c.*4193A>T (n.*4193A>T) c.701A>T c.723A>T (p.Glu241Asp) c.726A>T (p.Glu242Asp) c.5-12611A>T (n.5-12611A>T) c.-43-2041A>T (n.-43-2041A>T) c.-98-26372A>T (n.-98-26372A>T) n.301A>T n.4546A>T n.4587A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43076562T>C | CA500146822 | BRCA1 | c.4407A>G (p.Glu1469=) c.4410A>G (p.Glu1470=) c.4284A>G (p.Glu1428=) c.4404A>G (p.Glu1468=) c.4332A>G (p.Glu1444=) c.1098A>G (p.Glu366=) c.960A>G (p.Glu320=) c.3522A>G (p.Glu1174=) c.4287A>G (p.Glu1429=) c.4476A>G (p.Glu1492=) c.4269A>G (p.Glu1423=) c.972A>G (p.Glu324=) c.1017A>G (p.Glu339=) c.4473A>G (p.Glu1491=) c.797A>G c.984A>G (p.Glu328=) c.*4193A>G (n.*4193A>G) c.701A>G c.723A>G (p.Glu241=) c.726A>G (p.Glu242=) c.5-12611A>G (n.5-12611A>G) c.-43-2041A>G (n.-43-2041A>G) c.-98-26372A>G (n.-98-26372A>G) n.301A>G n.4546A>G n.4587A>G | ClinVar gnomAD v4 |
| 17 | g.43076562T>G | CA10592715 | BRCA1 | c.4407A>C (p.Glu1469Asp) c.4410A>C (p.Glu1470Asp) c.4284A>C (p.Glu1428Asp) c.4404A>C (p.Glu1468Asp) c.4332A>C (p.Glu1444Asp) c.1098A>C (p.Glu366Asp) c.960A>C (p.Glu320Asp) c.3522A>C (p.Glu1174Asp) c.4287A>C (p.Glu1429Asp) c.4476A>C (p.Glu1492Asp) c.4269A>C (p.Glu1423Asp) c.972A>C (p.Glu324Asp) c.1017A>C (p.Glu339Asp) c.4473A>C (p.Glu1491Asp) c.797A>C c.984A>C (p.Glu328Asp) c.*4193A>C (n.*4193A>C) c.701A>C c.723A>C (p.Glu241Asp) c.726A>C (p.Glu242Asp) c.5-12611A>C (n.5-12611A>C) c.-43-2041A>C (n.-43-2041A>C) c.-98-26372A>C (n.-98-26372A>C) n.301A>C n.4546A>C n.4587A>C | |
| 17 | g.43076562T= | CA2260775507 | BRCA1 | c.4407A= (p.Glu1469=) c.4410A= (p.Glu1470=) c.4284A= (p.Glu1428=) c.4404A= (p.Glu1468=) c.4332A= (p.Glu1444=) c.1098A= (p.Glu366=) c.960A= (p.Glu320=) c.3522A= (p.Glu1174=) c.4287A= (p.Glu1429=) c.4476A= (p.Glu1492=) c.4269A= (p.Glu1423=) c.972A= (p.Glu324=) c.1017A= (p.Glu339=) c.4473A= (p.Glu1491=) c.797A= c.984A= (p.Glu328=) c.*4193A= (n.*4193A=) c.701A= c.723A= (p.Glu241=) c.726A= (p.Glu242=) c.5-12611A= (n.5-12611A=) c.-43-2041A= (n.-43-2041A=) c.-98-26372A= (n.-98-26372A=) n.301A= n.4546A= n.4587A= | |
| 17 | g.43076563dup | CA915950045 | BRCA1 | c.4407dup (p.Gly1470ArgfsTer5) c.4410dup (p.Gly1471ArgfsTer5) c.4284dup (p.Gly1429ArgfsTer5) c.4404dup (p.Gly1469ArgfsTer5) c.4332dup (p.Gly1445ArgfsTer5) c.1098dup (p.Gly367ArgfsTer5) c.960dup (p.Gly321ArgfsTer5) c.3522dup (p.Gly1175ArgfsTer5) c.4287dup (p.Gly1430ArgfsTer5) c.4476dup (p.Gly1493ArgfsTer5) c.4269dup (p.Gly1424ArgfsTer5) c.972dup (p.Gly325ArgfsTer5) c.1017dup (p.Gly340ArgfsTer5) c.4473dup (p.Gly1492ArgfsTer5) c.797dup c.984dup (p.Gly329ArgfsTer5) c.*4193dup (n.*4193dup) c.701dup c.723dup (p.Gly242ArgfsTer5) c.726dup (p.Gly243ArgfsTer5) c.5-12611dup (n.5-12611dup) c.-43-2041dup (n.-43-2041dup) c.-98-26372dup (n.-98-26372dup) n.301dup n.4546dup n.4587dup | ClinVar dbSNP |
| 17 | g.43076563del | CA2697559976 | BRCA1 | c.4407del (p.Gly1470AlafsTer?) c.4410del (p.Gly1471AlafsTer?) c.4284del (p.Gly1429AlafsTer?) c.4404del (p.Gly1469AlafsTer?) c.4332del (p.Gly1445AlafsTer?) c.1098del (p.Gly367AlafsTer?) c.960del (p.Gly321AlafsTer?) c.3522del (p.Gly1175AlafsTer?) c.4287del (p.Gly1430AlafsTer?) c.4476del (p.Gly1493AlafsTer?) c.4269del (p.Gly1424AlafsTer?) c.972del (p.Gly325AlafsTer?) c.1017del (p.Gly340AlafsTer?) c.4473del (p.Gly1492AlafsTer?) c.797del c.984del (p.Gly329AlafsTer?) c.*4193del (n.*4193del) c.701del c.723del (p.Gly242AlafsTer?) c.726del (p.Gly243AlafsTer?) c.5-12611del (n.5-12611del) c.-43-2041del (n.-43-2041del) c.-98-26372del (n.-98-26372del) n.301del n.4546del n.4587del | ClinVar |
| 17 | g.43076563T>A | CA10592716 | BRCA1 | c.4406A>T (p.Glu1469Val) c.4409A>T (p.Glu1470Val) c.4283A>T (p.Glu1428Val) c.4403A>T (p.Glu1468Val) c.4331A>T (p.Glu1444Val) c.1097A>T (p.Glu366Val) c.959A>T (p.Glu320Val) c.3521A>T (p.Glu1174Val) c.4286A>T (p.Glu1429Val) c.4475A>T (p.Glu1492Val) c.4268A>T (p.Glu1423Val) c.971A>T (p.Glu324Val) c.1016A>T (p.Glu339Val) c.4472A>T (p.Glu1491Val) c.796A>T c.983A>T (p.Glu328Val) c.*4192A>T (n.*4192A>T) c.700A>T c.722A>T (p.Glu241Val) c.725A>T (p.Glu242Val) c.5-12612A>T (n.5-12612A>T) c.-43-2042A>T (n.-43-2042A>T) c.-98-26373A>T (n.-98-26373A>T) n.300A>T n.4545A>T n.4586A>T | |
| 17 | g.43076563T>C | CA10592717 | BRCA1 | c.4406A>G (p.Glu1469Gly) c.4409A>G (p.Glu1470Gly) c.4283A>G (p.Glu1428Gly) c.4403A>G (p.Glu1468Gly) c.4331A>G (p.Glu1444Gly) c.1097A>G (p.Glu366Gly) c.959A>G (p.Glu320Gly) c.3521A>G (p.Glu1174Gly) c.4286A>G (p.Glu1429Gly) c.4475A>G (p.Glu1492Gly) c.4268A>G (p.Glu1423Gly) c.971A>G (p.Glu324Gly) c.1016A>G (p.Glu339Gly) c.4472A>G (p.Glu1491Gly) c.796A>G c.983A>G (p.Glu328Gly) c.*4192A>G (n.*4192A>G) c.700A>G c.722A>G (p.Glu241Gly) c.725A>G (p.Glu242Gly) c.5-12612A>G (n.5-12612A>G) c.-43-2042A>G (n.-43-2042A>G) c.-98-26373A>G (n.-98-26373A>G) n.300A>G n.4545A>G n.4586A>G | gnomAD v4 |
| 17 | g.43076563T>G | CA10592718 | BRCA1 | c.4406A>C (p.Glu1469Ala) c.4409A>C (p.Glu1470Ala) c.4283A>C (p.Glu1428Ala) c.4403A>C (p.Glu1468Ala) c.4331A>C (p.Glu1444Ala) c.1097A>C (p.Glu366Ala) c.959A>C (p.Glu320Ala) c.3521A>C (p.Glu1174Ala) c.4286A>C (p.Glu1429Ala) c.4475A>C (p.Glu1492Ala) c.4268A>C (p.Glu1423Ala) c.971A>C (p.Glu324Ala) c.1016A>C (p.Glu339Ala) c.4472A>C (p.Glu1491Ala) c.796A>C c.983A>C (p.Glu328Ala) c.*4192A>C (n.*4192A>C) c.700A>C c.722A>C (p.Glu241Ala) c.725A>C (p.Glu242Ala) c.5-12612A>C (n.5-12612A>C) c.-43-2042A>C (n.-43-2042A>C) c.-98-26373A>C (n.-98-26373A>C) n.300A>C n.4545A>C n.4586A>C | |
| 17 | g.43076564C>A | CA10589664 | BRCA1 | c.4405G>T (p.Glu1469Ter) c.4408G>T (p.Glu1470Ter) c.4282G>T (p.Glu1428Ter) c.4402G>T (p.Glu1468Ter) c.4330G>T (p.Glu1444Ter) c.1096G>T (p.Glu366Ter) c.958G>T (p.Glu320Ter) c.3520G>T (p.Glu1174Ter) c.4285G>T (p.Glu1429Ter) c.4474G>T (p.Glu1492Ter) c.4267G>T (p.Glu1423Ter) c.970G>T (p.Glu324Ter) c.1015G>T (p.Glu339Ter) c.4471G>T (p.Glu1491Ter) c.795G>T c.982G>T (p.Glu328Ter) c.*4191G>T (n.*4191G>T) c.699G>T c.721G>T (p.Glu241Ter) c.724G>T (p.Glu242Ter) c.5-12613G>T (n.5-12613G>T) c.-43-2043G>T (n.-43-2043G>T) c.-98-26374G>T (n.-98-26374G>T) n.299G>T n.4544G>T n.4585G>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.43076564C= | CA2260775508 | BRCA1 | c.4405G= (p.Glu1469=) c.4408G= (p.Glu1470=) c.4282G= (p.Glu1428=) c.4402G= (p.Glu1468=) c.4330G= (p.Glu1444=) c.1096G= (p.Glu366=) c.958G= (p.Glu320=) c.3520G= (p.Glu1174=) c.4285G= (p.Glu1429=) c.4474G= (p.Glu1492=) c.4267G= (p.Glu1423=) c.970G= (p.Glu324=) c.1015G= (p.Glu339=) c.4471G= (p.Glu1491=) c.795G= c.982G= (p.Glu328=) c.*4191G= (n.*4191G=) c.699G= c.721G= (p.Glu241=) c.724G= (p.Glu242=) c.5-12613G= (n.5-12613G=) c.-43-2043G= (n.-43-2043G=) c.-98-26374G= (n.-98-26374G=) n.299G= n.4544G= n.4585G= | |
| 17 | g.43076564C>G | CA10592719 | BRCA1 | c.4405G>C (p.Glu1469Gln) c.4408G>C (p.Glu1470Gln) c.4282G>C (p.Glu1428Gln) c.4402G>C (p.Glu1468Gln) c.4330G>C (p.Glu1444Gln) c.1096G>C (p.Glu366Gln) c.958G>C (p.Glu320Gln) c.3520G>C (p.Glu1174Gln) c.4285G>C (p.Glu1429Gln) c.4474G>C (p.Glu1492Gln) c.4267G>C (p.Glu1423Gln) c.970G>C (p.Glu324Gln) c.1015G>C (p.Glu339Gln) c.4471G>C (p.Glu1491Gln) c.795G>C c.982G>C (p.Glu328Gln) c.*4191G>C (n.*4191G>C) c.699G>C c.721G>C (p.Glu241Gln) c.724G>C (p.Glu242Gln) c.5-12613G>C (n.5-12613G>C) c.-43-2043G>C (n.-43-2043G>C) c.-98-26374G>C (n.-98-26374G>C) n.299G>C n.4544G>C n.4585G>C | dbSNP |
| 17 | g.43076564C>T | CA10592720 | BRCA1 | c.4405G>A (p.Glu1469Lys) c.4408G>A (p.Glu1470Lys) c.4282G>A (p.Glu1428Lys) c.4402G>A (p.Glu1468Lys) c.4330G>A (p.Glu1444Lys) c.1096G>A (p.Glu366Lys) c.958G>A (p.Glu320Lys) c.3520G>A (p.Glu1174Lys) c.4285G>A (p.Glu1429Lys) c.4474G>A (p.Glu1492Lys) c.4267G>A (p.Glu1423Lys) c.970G>A (p.Glu324Lys) c.1015G>A (p.Glu339Lys) c.4471G>A (p.Glu1491Lys) c.795G>A c.982G>A (p.Glu328Lys) c.*4191G>A (n.*4191G>A) c.699G>A c.721G>A (p.Glu241Lys) c.724G>A (p.Glu242Lys) c.5-12613G>A (n.5-12613G>A) c.-43-2043G>A (n.-43-2043G>A) c.-98-26374G>A (n.-98-26374G>A) n.299G>A n.4544G>A n.4585G>A | dbSNP |
| 17 | g.43076565T>A | CA500146824 | BRCA1 | c.4404A>T (p.Pro1468=) c.4407A>T (p.Pro1469=) c.4281A>T (p.Pro1427=) c.4401A>T (p.Pro1467=) c.4329A>T (p.Pro1443=) c.1095A>T (p.Pro365=) c.957A>T (p.Pro319=) c.3519A>T (p.Pro1173=) c.4284A>T (p.Pro1428=) c.4473A>T (p.Pro1491=) c.4266A>T (p.Pro1422=) c.969A>T (p.Pro323=) c.1014A>T (p.Pro338=) c.4470A>T (p.Pro1490=) c.794A>T c.981A>T (p.Pro327=) c.*4190A>T (n.*4190A>T) c.698A>T c.720A>T (p.Pro240=) c.723A>T (p.Pro241=) c.5-12614A>T (n.5-12614A>T) c.-43-2044A>T (n.-43-2044A>T) c.-98-26375A>T (n.-98-26375A>T) n.298A>T n.4543A>T n.4584A>T | |
| 17 | g.43076565T>C | CA500146825 | BRCA1 | c.4404A>G (p.Pro1468=) c.4407A>G (p.Pro1469=) c.4281A>G (p.Pro1427=) c.4401A>G (p.Pro1467=) c.4329A>G (p.Pro1443=) c.1095A>G (p.Pro365=) c.957A>G (p.Pro319=) c.3519A>G (p.Pro1173=) c.4284A>G (p.Pro1428=) c.4473A>G (p.Pro1491=) c.4266A>G (p.Pro1422=) c.969A>G (p.Pro323=) c.1014A>G (p.Pro338=) c.4470A>G (p.Pro1490=) c.794A>G c.981A>G (p.Pro327=) c.*4190A>G (n.*4190A>G) c.698A>G c.720A>G (p.Pro240=) c.723A>G (p.Pro241=) c.5-12614A>G (n.5-12614A>G) c.-43-2044A>G (n.-43-2044A>G) c.-98-26375A>G (n.-98-26375A>G) n.298A>G n.4543A>G n.4584A>G | |
| 17 | g.43076565T>G | CA500146826 | BRCA1 | c.4404A>C (p.Pro1468=) c.4407A>C (p.Pro1469=) c.4281A>C (p.Pro1427=) c.4401A>C (p.Pro1467=) c.4329A>C (p.Pro1443=) c.1095A>C (p.Pro365=) c.957A>C (p.Pro319=) c.3519A>C (p.Pro1173=) c.4284A>C (p.Pro1428=) c.4473A>C (p.Pro1491=) c.4266A>C (p.Pro1422=) c.969A>C (p.Pro323=) c.1014A>C (p.Pro338=) c.4470A>C (p.Pro1490=) c.794A>C c.981A>C (p.Pro327=) c.*4190A>C (n.*4190A>C) c.698A>C c.720A>C (p.Pro240=) c.723A>C (p.Pro241=) c.5-12614A>C (n.5-12614A>C) c.-43-2044A>C (n.-43-2044A>C) c.-98-26375A>C (n.-98-26375A>C) n.298A>C n.4543A>C n.4584A>C | |
| 17 | g.43076565T= | CA2260775509 | BRCA1 | c.4404A= (p.Pro1468=) c.4407A= (p.Pro1469=) c.4281A= (p.Pro1427=) c.4401A= (p.Pro1467=) c.4329A= (p.Pro1443=) c.1095A= (p.Pro365=) c.957A= (p.Pro319=) c.3519A= (p.Pro1173=) c.4284A= (p.Pro1428=) c.4473A= (p.Pro1491=) c.4266A= (p.Pro1422=) c.969A= (p.Pro323=) c.1014A= (p.Pro338=) c.4470A= (p.Pro1490=) c.794A= c.981A= (p.Pro327=) c.*4190A= (n.*4190A=) c.698A= c.720A= (p.Pro240=) c.723A= (p.Pro241=) c.5-12614A= (n.5-12614A=) c.-43-2044A= (n.-43-2044A=) c.-98-26375A= (n.-98-26375A=) n.298A= n.4543A= n.4584A= | |
| 17 | g.43076566G>A | CA10592721 | BRCA1 | c.4403C>T (p.Pro1468Leu) c.4406C>T (p.Pro1469Leu) c.4280C>T (p.Pro1427Leu) c.4400C>T (p.Pro1467Leu) c.4328C>T (p.Pro1443Leu) c.1094C>T (p.Pro365Leu) c.956C>T (p.Pro319Leu) c.3518C>T (p.Pro1173Leu) c.4283C>T (p.Pro1428Leu) c.4472C>T (p.Pro1491Leu) c.4265C>T (p.Pro1422Leu) c.968C>T (p.Pro323Leu) c.1013C>T (p.Pro338Leu) c.4469C>T (p.Pro1490Leu) c.793C>T c.980C>T (p.Pro327Leu) c.*4189C>T (n.*4189C>T) c.697C>T c.719C>T (p.Pro240Leu) c.722C>T (p.Pro241Leu) c.5-12615C>T (n.5-12615C>T) c.-43-2045C>T (n.-43-2045C>T) c.-98-26376C>T (n.-98-26376C>T) n.297C>T n.4542C>T n.4583C>T | ClinVar dbSNP |
| 17 | g.43076566G>C | CA10592722 | BRCA1 | c.4403C>G (p.Pro1468Arg) c.4406C>G (p.Pro1469Arg) c.4280C>G (p.Pro1427Arg) c.4400C>G (p.Pro1467Arg) c.4328C>G (p.Pro1443Arg) c.1094C>G (p.Pro365Arg) c.956C>G (p.Pro319Arg) c.3518C>G (p.Pro1173Arg) c.4283C>G (p.Pro1428Arg) c.4472C>G (p.Pro1491Arg) c.4265C>G (p.Pro1422Arg) c.968C>G (p.Pro323Arg) c.1013C>G (p.Pro338Arg) c.4469C>G (p.Pro1490Arg) c.793C>G c.980C>G (p.Pro327Arg) c.*4189C>G (n.*4189C>G) c.697C>G c.719C>G (p.Pro240Arg) c.722C>G (p.Pro241Arg) c.5-12615C>G (n.5-12615C>G) c.-43-2045C>G (n.-43-2045C>G) c.-98-26376C>G (n.-98-26376C>G) n.297C>G n.4542C>G n.4583C>G | ClinVar dbSNP |
| 17 | g.43076566G= | CA2260775510 | BRCA1 | c.4403C= (p.Pro1468=) c.4406C= (p.Pro1469=) c.4280C= (p.Pro1427=) c.4400C= (p.Pro1467=) c.4328C= (p.Pro1443=) c.1094C= (p.Pro365=) c.956C= (p.Pro319=) c.3518C= (p.Pro1173=) c.4283C= (p.Pro1428=) c.4472C= (p.Pro1491=) c.4265C= (p.Pro1422=) c.968C= (p.Pro323=) c.1013C= (p.Pro338=) c.4469C= (p.Pro1490=) c.793C= c.980C= (p.Pro327=) c.*4189C= (n.*4189C=) c.697C= c.719C= (p.Pro240=) c.722C= (p.Pro241=) c.5-12615C= (n.5-12615C=) c.-43-2045C= (n.-43-2045C=) c.-98-26376C= (n.-98-26376C=) n.297C= n.4542C= n.4583C= | |
| 17 | g.43076566G>T | CA10592723 | BRCA1 | c.4403C>A (p.Pro1468Gln) c.4406C>A (p.Pro1469Gln) c.4280C>A (p.Pro1427Gln) c.4400C>A (p.Pro1467Gln) c.4328C>A (p.Pro1443Gln) c.1094C>A (p.Pro365Gln) c.956C>A (p.Pro319Gln) c.3518C>A (p.Pro1173Gln) c.4283C>A (p.Pro1428Gln) c.4472C>A (p.Pro1491Gln) c.4265C>A (p.Pro1422Gln) c.968C>A (p.Pro323Gln) c.1013C>A (p.Pro338Gln) c.4469C>A (p.Pro1490Gln) c.793C>A c.980C>A (p.Pro327Gln) c.*4189C>A (n.*4189C>A) c.697C>A c.719C>A (p.Pro240Gln) c.722C>A (p.Pro241Gln) c.5-12615C>A (n.5-12615C>A) c.-43-2045C>A (n.-43-2045C>A) c.-98-26376C>A (n.-98-26376C>A) n.297C>A n.4542C>A n.4583C>A | |
| 17 | g.43076567dup | CA1139665588 | BRCA1 | c.4403dup (p.Glu1469ArgfsTer6) c.4406dup (p.Glu1470ArgfsTer6) c.4280dup (p.Glu1428ArgfsTer6) c.4400dup (p.Glu1468ArgfsTer6) c.4328dup (p.Glu1444ArgfsTer6) c.1094dup (p.Glu366ArgfsTer6) c.956dup (p.Glu320ArgfsTer6) c.3518dup (p.Glu1174ArgfsTer6) c.4283dup (p.Glu1429ArgfsTer6) c.4472dup (p.Glu1492ArgfsTer6) c.4265dup (p.Glu1423ArgfsTer6) c.968dup (p.Glu324ArgfsTer6) c.1013dup (p.Glu339ArgfsTer6) c.4469dup (p.Glu1491ArgfsTer6) c.793dup c.980dup (p.Glu328ArgfsTer6) c.*4189dup (n.*4189dup) c.697dup c.719dup (p.Glu241ArgfsTer6) c.722dup (p.Glu242ArgfsTer6) c.5-12615dup (n.5-12615dup) c.-43-2045dup (n.-43-2045dup) c.-98-26376dup (n.-98-26376dup) n.297dup n.4542dup n.4583dup | ClinVar dbSNP |
| 17 | g.43076567del | CA2733692815 | BRCA1 | c.4403del (p.Pro1468GlnfsTer?) c.4406del (p.Pro1469GlnfsTer?) c.4280del (p.Pro1427GlnfsTer?) c.4400del (p.Pro1467GlnfsTer?) c.4328del (p.Pro1443GlnfsTer?) c.1094del (p.Pro365GlnfsTer?) c.956del (p.Pro319GlnfsTer?) c.3518del (p.Pro1173GlnfsTer?) c.4283del (p.Pro1428GlnfsTer?) c.4472del (p.Pro1491GlnfsTer?) c.4265del (p.Pro1422GlnfsTer?) c.968del (p.Pro323GlnfsTer?) c.1013del (p.Pro338GlnfsTer?) c.4469del (p.Pro1490GlnfsTer?) c.793del c.980del (p.Pro327GlnfsTer?) c.*4189del (n.*4189del) c.697del c.719del (p.Pro240GlnfsTer?) c.722del (p.Pro241GlnfsTer?) c.5-12615del (n.5-12615del) c.-43-2045del (n.-43-2045del) c.-98-26376del (n.-98-26376del) n.297del n.4542del n.4583del | ClinVar dbSNP |
| 17 | g.43076567G>A | CA002828 | BRCA1 | c.4402C>T (p.Pro1468Ser) c.4405C>T (p.Pro1469Ser) c.4279C>T (p.Pro1427Ser) c.4399C>T (p.Pro1467Ser) c.4327C>T (p.Pro1443Ser) c.1093C>T (p.Pro365Ser) c.955C>T (p.Pro319Ser) c.3517C>T (p.Pro1173Ser) c.4282C>T (p.Pro1428Ser) c.4471C>T (p.Pro1491Ser) c.4264C>T (p.Pro1422Ser) c.967C>T (p.Pro323Ser) c.1012C>T (p.Pro338Ser) c.4468C>T (p.Pro1490Ser) c.792C>T c.979C>T (p.Pro327Ser) c.*4188C>T (n.*4188C>T) c.696C>T c.718C>T (p.Pro240Ser) c.721C>T (p.Pro241Ser) c.5-12616C>T (n.5-12616C>T) c.-43-2046C>T (n.-43-2046C>T) c.-98-26377C>T (n.-98-26377C>T) n.296C>T n.4541C>T n.4582C>T | ClinVar dbSNP |
| 17 | g.43076567G>C | CA10592724 | BRCA1 | c.4402C>G (p.Pro1468Ala) c.4405C>G (p.Pro1469Ala) c.4279C>G (p.Pro1427Ala) c.4399C>G (p.Pro1467Ala) c.4327C>G (p.Pro1443Ala) c.1093C>G (p.Pro365Ala) c.955C>G (p.Pro319Ala) c.3517C>G (p.Pro1173Ala) c.4282C>G (p.Pro1428Ala) c.4471C>G (p.Pro1491Ala) c.4264C>G (p.Pro1422Ala) c.967C>G (p.Pro323Ala) c.1012C>G (p.Pro338Ala) c.4468C>G (p.Pro1490Ala) c.792C>G c.979C>G (p.Pro327Ala) c.*4188C>G (n.*4188C>G) c.696C>G c.718C>G (p.Pro240Ala) c.721C>G (p.Pro241Ala) c.5-12616C>G (n.5-12616C>G) c.-43-2046C>G (n.-43-2046C>G) c.-98-26377C>G (n.-98-26377C>G) n.296C>G n.4541C>G n.4582C>G | dbSNP |
| 17 | g.43076567G= | CA2260775511 | BRCA1 | c.4402C= (p.Pro1468=) c.4405C= (p.Pro1469=) c.4279C= (p.Pro1427=) c.4399C= (p.Pro1467=) c.4327C= (p.Pro1443=) c.1093C= (p.Pro365=) c.955C= (p.Pro319=) c.3517C= (p.Pro1173=) c.4282C= (p.Pro1428=) c.4471C= (p.Pro1491=) c.4264C= (p.Pro1422=) c.967C= (p.Pro323=) c.1012C= (p.Pro338=) c.4468C= (p.Pro1490=) c.792C= c.979C= (p.Pro327=) c.*4188C= (n.*4188C=) c.696C= c.718C= (p.Pro240=) c.721C= (p.Pro241=) c.5-12616C= (n.5-12616C=) c.-43-2046C= (n.-43-2046C=) c.-98-26377C= (n.-98-26377C=) n.296C= n.4541C= n.4582C= | |
| 17 | g.43076567G>T | CA10592725 | BRCA1 | c.4402C>A (p.Pro1468Thr) c.4405C>A (p.Pro1469Thr) c.4279C>A (p.Pro1427Thr) c.4399C>A (p.Pro1467Thr) c.4327C>A (p.Pro1443Thr) c.1093C>A (p.Pro365Thr) c.955C>A (p.Pro319Thr) c.3517C>A (p.Pro1173Thr) c.4282C>A (p.Pro1428Thr) c.4471C>A (p.Pro1491Thr) c.4264C>A (p.Pro1422Thr) c.967C>A (p.Pro323Thr) c.1012C>A (p.Pro338Thr) c.4468C>A (p.Pro1490Thr) c.792C>A c.979C>A (p.Pro327Thr) c.*4188C>A (n.*4188C>A) c.696C>A c.718C>A (p.Pro240Thr) c.721C>A (p.Pro241Thr) c.5-12616C>A (n.5-12616C>A) c.-43-2046C>A (n.-43-2046C>A) c.-98-26377C>A (n.-98-26377C>A) n.296C>A n.4541C>A n.4582C>A | ClinVar dbSNP |
| 17 | g.43076568A>C | CA10592726 | BRCA1 | c.4401T>G (p.Asn1467Lys) c.4404T>G (p.Asn1468Lys) c.4278T>G (p.Asn1426Lys) c.4398T>G (p.Asn1466Lys) c.4326T>G (p.Asn1442Lys) c.1092T>G (p.Asn364Lys) c.954T>G (p.Asn318Lys) c.3516T>G (p.Asn1172Lys) c.4281T>G (p.Asn1427Lys) c.4470T>G (p.Asn1490Lys) c.4263T>G (p.Asn1421Lys) c.966T>G (p.Asn322Lys) c.1011T>G (p.Asn337Lys) c.4467T>G (p.Asn1489Lys) c.791T>G c.978T>G (p.Asn326Lys) c.*4187T>G (n.*4187T>G) c.695T>G c.717T>G (p.Asn239Lys) c.720T>G (p.Asn240Lys) c.5-12617T>G (n.5-12617T>G) c.-43-2047T>G (n.-43-2047T>G) c.-98-26378T>G (n.-98-26378T>G) n.295T>G n.4540T>G n.4581T>G | |
| 17 | g.43076568A>G | CA500146830 | BRCA1 | c.4401T>C (p.Asn1467=) c.4404T>C (p.Asn1468=) c.4278T>C (p.Asn1426=) c.4398T>C (p.Asn1466=) c.4326T>C (p.Asn1442=) c.1092T>C (p.Asn364=) c.954T>C (p.Asn318=) c.3516T>C (p.Asn1172=) c.4281T>C (p.Asn1427=) c.4470T>C (p.Asn1490=) c.4263T>C (p.Asn1421=) c.966T>C (p.Asn322=) c.1011T>C (p.Asn337=) c.4467T>C (p.Asn1489=) c.791T>C c.978T>C (p.Asn326=) c.*4187T>C (n.*4187T>C) c.695T>C c.717T>C (p.Asn239=) c.720T>C (p.Asn240=) c.5-12617T>C (n.5-12617T>C) c.-43-2047T>C (n.-43-2047T>C) c.-98-26378T>C (n.-98-26378T>C) n.295T>C n.4540T>C n.4581T>C | |
| 17 | g.43076568A>T | CA10592727 | BRCA1 | c.4401T>A (p.Asn1467Lys) c.4404T>A (p.Asn1468Lys) c.4278T>A (p.Asn1426Lys) c.4398T>A (p.Asn1466Lys) c.4326T>A (p.Asn1442Lys) c.1092T>A (p.Asn364Lys) c.954T>A (p.Asn318Lys) c.3516T>A (p.Asn1172Lys) c.4281T>A (p.Asn1427Lys) c.4470T>A (p.Asn1490Lys) c.4263T>A (p.Asn1421Lys) c.966T>A (p.Asn322Lys) c.1011T>A (p.Asn337Lys) c.4467T>A (p.Asn1489Lys) c.791T>A c.978T>A (p.Asn326Lys) c.*4187T>A (n.*4187T>A) c.695T>A c.717T>A (p.Asn239Lys) c.720T>A (p.Asn240Lys) c.5-12617T>A (n.5-12617T>A) c.-43-2047T>A (n.-43-2047T>A) c.-98-26378T>A (n.-98-26378T>A) n.295T>A n.4540T>A n.4581T>A | dbSNP |
| 17 | g.43076568dup | CA645509050 | BRCA1 | c.4401dup (p.Pro1468SerfsTer7) c.4404dup (p.Pro1469SerfsTer7) c.4278dup (p.Pro1427SerfsTer7) c.4398dup (p.Pro1467SerfsTer7) c.4326dup (p.Pro1443SerfsTer7) c.1092dup (p.Pro365SerfsTer7) c.954dup (p.Pro319SerfsTer7) c.3516dup (p.Pro1173SerfsTer7) c.4281dup (p.Pro1428SerfsTer7) c.4470dup (p.Pro1491SerfsTer7) c.4263dup (p.Pro1422SerfsTer7) c.966dup (p.Pro323SerfsTer7) c.1011dup (p.Pro338SerfsTer7) c.4467dup (p.Pro1490SerfsTer7) c.791dup c.978dup (p.Pro327SerfsTer7) c.*4187dup (n.*4187dup) c.695dup c.717dup (p.Pro240SerfsTer7) c.720dup (p.Pro241SerfsTer7) c.5-12617dup (n.5-12617dup) c.-43-2047dup (n.-43-2047dup) c.-98-26378dup (n.-98-26378dup) n.295dup n.4540dup n.4581dup | |
| 17 | g.43076568_43076581delinsATTCTGGCTTATAG | CA2260775512 | BRCA1 | c.4388_4401delinsCTATAAGCCAGAAT (p.Pro1463=) c.4391_4404delinsCTATAAGCCAGAAT (p.Pro1464=) c.4265_4278delinsCTATAAGCCAGAAT (p.Pro1422=) c.4385_4398delinsCTATAAGCCAGAAT (p.Pro1462=) c.4313_4326delinsCTATAAGCCAGAAT (p.Pro1438=) c.1079_1092delinsCTATAAGCCAGAAT (p.Pro360=) c.941_954delinsCTATAAGCCAGAAT (p.Pro314=) c.3503_3516delinsCTATAAGCCAGAAT (p.Pro1168=) c.4268_4281delinsCTATAAGCCAGAAT (p.Pro1423=) c.4457_4470delinsCTATAAGCCAGAAT (p.Pro1486=) c.4250_4263delinsCTATAAGCCAGAAT (p.Pro1417=) c.953_966delinsCTATAAGCCAGAAT (p.Pro318=) c.998_1011delinsCTATAAGCCAGAAT (p.Pro333=) c.4454_4467delinsCTATAAGCCAGAAT (p.Pro1485=) c.778_791delinsCTATAAGCCAGAAT c.965_978delinsCTATAAGCCAGAAT (p.Pro322=) c.*4174_*4187delinsCTATAAGCCAGAAT (n.*4174_*4187delinsCTATAAGCCAGAAT) c.682_695delinsCTATAAGCCAGAAT c.704_717delinsCTATAAGCCAGAAT (p.Pro235=) c.707_720delinsCTATAAGCCAGAAT (p.Pro236=) c.5-12630_5-12617delinsCTATAAGCCAGAAT (n.5-12630_5-12617delinsCTATAAGCCAGAAT) c.-43-2060_-43-2047delinsCTATAAGCCAGAAT (n.-43-2060_-43-2047delinsCTATAAGCCAGAAT) c.-98-26391_-98-26378delinsCTATAAGCCAGAAT (n.-98-26391_-98-26378delinsCTATAAGCCAGAAT) n.282_295delinsCTATAAGCCAGAAT n.4527_4540delinsCTATAAGCCAGAAT n.4568_4581delinsCTATAAGCCAGAAT | |
| 17 | g.43076569T>A | CA10592728 | BRCA1 | c.4400A>T (p.Asn1467Ile) c.4403A>T (p.Asn1468Ile) c.4277A>T (p.Asn1426Ile) c.4397A>T (p.Asn1466Ile) c.4325A>T (p.Asn1442Ile) c.1091A>T (p.Asn364Ile) c.953A>T (p.Asn318Ile) c.3515A>T (p.Asn1172Ile) c.4280A>T (p.Asn1427Ile) c.4469A>T (p.Asn1490Ile) c.4262A>T (p.Asn1421Ile) c.965A>T (p.Asn322Ile) c.1010A>T (p.Asn337Ile) c.4466A>T (p.Asn1489Ile) c.790A>T c.977A>T (p.Asn326Ile) c.*4186A>T (n.*4186A>T) c.694A>T c.716A>T (p.Asn239Ile) c.719A>T (p.Asn240Ile) c.5-12618A>T (n.5-12618A>T) c.-43-2048A>T (n.-43-2048A>T) c.-98-26379A>T (n.-98-26379A>T) n.294A>T n.4539A>T n.4580A>T | dbSNP |