WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.43076486del | CA2733915331 | BRCA1 | c.4481+2del (n.4481+2del) c.4484+2del (n.4484+2del) c.4358+2del (n.4358+2del) c.4478+2del (n.4478+2del) c.4406+2del (n.4406+2del) c.1172+2del (n.1172+2del) c.1034+2del (n.1034+2del) c.3596+2del (n.3596+2del) c.4361+2del (n.4361+2del) c.4550+2del (n.4550+2del) c.4343+2del (n.4343+2del) c.1046+2del (n.1046+2del) c.1091+2del (n.1091+2del) c.4547+2del (n.4547+2del) c.871+2del c.1058+2del (n.1058+2del) c.*4267+2del (n.*4267+2del) c.797+2del (n.797+2del) c.5-12535del (n.5-12535del) c.-43-1965del (n.-43-1965del) c.-98-26296del (n.-98-26296del) n.4620+2del n.4661+2del | dbSNP |
| 17 | g.43076486A= | CA2260775441 | BRCA1 | c.4481+2T= (n.4481+2T=) c.4484+2T= (n.4484+2T=) c.4358+2T= (n.4358+2T=) c.4478+2T= (n.4478+2T=) c.4406+2T= (n.4406+2T=) c.1172+2T= (n.1172+2T=) c.1034+2T= (n.1034+2T=) c.3596+2T= (n.3596+2T=) c.4361+2T= (n.4361+2T=) c.4550+2T= (n.4550+2T=) c.4343+2T= (n.4343+2T=) c.1046+2T= (n.1046+2T=) c.1091+2T= (n.1091+2T=) c.4547+2T= (n.4547+2T=) c.871+2T= c.1058+2T= (n.1058+2T=) c.*4267+2T= (n.*4267+2T=) c.797+2T= (n.797+2T=) c.5-12535T= (n.5-12535T=) c.-43-1965T= (n.-43-1965T=) c.-98-26296T= (n.-98-26296T=) n.4620+2T= n.4661+2T= | |
| 17 | g.43076486A>C | CA10592562 | BRCA1 | c.4481+2T>G (n.4481+2T>G) c.4484+2T>G (n.4484+2T>G) c.4358+2T>G (n.4358+2T>G) c.4478+2T>G (n.4478+2T>G) c.4406+2T>G (n.4406+2T>G) c.1172+2T>G (n.1172+2T>G) c.1034+2T>G (n.1034+2T>G) c.3596+2T>G (n.3596+2T>G) c.4361+2T>G (n.4361+2T>G) c.4550+2T>G (n.4550+2T>G) c.4343+2T>G (n.4343+2T>G) c.1046+2T>G (n.1046+2T>G) c.1091+2T>G (n.1091+2T>G) c.4547+2T>G (n.4547+2T>G) c.871+2T>G c.1058+2T>G (n.1058+2T>G) c.*4267+2T>G (n.*4267+2T>G) c.797+2T>G (n.797+2T>G) c.5-12535T>G (n.5-12535T>G) c.-43-1965T>G (n.-43-1965T>G) c.-98-26296T>G (n.-98-26296T>G) n.4620+2T>G n.4661+2T>G | ClinVar dbSNP |
| 17 | g.43076486A>G | CA10592563 | BRCA1 | c.4481+2T>C (n.4481+2T>C) c.4484+2T>C (n.4484+2T>C) c.4358+2T>C (n.4358+2T>C) c.4478+2T>C (n.4478+2T>C) c.4406+2T>C (n.4406+2T>C) c.1172+2T>C (n.1172+2T>C) c.1034+2T>C (n.1034+2T>C) c.3596+2T>C (n.3596+2T>C) c.4361+2T>C (n.4361+2T>C) c.4550+2T>C (n.4550+2T>C) c.4343+2T>C (n.4343+2T>C) c.1046+2T>C (n.1046+2T>C) c.1091+2T>C (n.1091+2T>C) c.4547+2T>C (n.4547+2T>C) c.871+2T>C c.1058+2T>C (n.1058+2T>C) c.*4267+2T>C (n.*4267+2T>C) c.797+2T>C (n.797+2T>C) c.5-12535T>C (n.5-12535T>C) c.-43-1965T>C (n.-43-1965T>C) c.-98-26296T>C (n.-98-26296T>C) n.4620+2T>C n.4661+2T>C | ClinVar dbSNP |
| 17 | g.43076486A>T | CA10592564 | BRCA1 | c.4481+2T>A (n.4481+2T>A) c.4484+2T>A (n.4484+2T>A) c.4358+2T>A (n.4358+2T>A) c.4478+2T>A (n.4478+2T>A) c.4406+2T>A (n.4406+2T>A) c.1172+2T>A (n.1172+2T>A) c.1034+2T>A (n.1034+2T>A) c.3596+2T>A (n.3596+2T>A) c.4361+2T>A (n.4361+2T>A) c.4550+2T>A (n.4550+2T>A) c.4343+2T>A (n.4343+2T>A) c.1046+2T>A (n.1046+2T>A) c.1091+2T>A (n.1091+2T>A) c.4547+2T>A (n.4547+2T>A) c.871+2T>A c.1058+2T>A (n.1058+2T>A) c.*4267+2T>A (n.*4267+2T>A) c.797+2T>A (n.797+2T>A) c.5-12535T>A (n.5-12535T>A) c.-43-1965T>A (n.-43-1965T>A) c.-98-26296T>A (n.-98-26296T>A) n.4620+2T>A n.4661+2T>A | |
| 17 | g.43076486_43076487delinsAC | CA2260775440 | BRCA1 | c.4481+1_4481+2delinsGT (n.4481+1_4481+2delinsGT) c.4484+1_4484+2delinsGT (n.4484+1_4484+2delinsGT) c.4358+1_4358+2delinsGT (n.4358+1_4358+2delinsGT) c.4478+1_4478+2delinsGT (n.4478+1_4478+2delinsGT) c.4406+1_4406+2delinsGT (n.4406+1_4406+2delinsGT) c.1172+1_1172+2delinsGT (n.1172+1_1172+2delinsGT) c.1034+1_1034+2delinsGT (n.1034+1_1034+2delinsGT) c.3596+1_3596+2delinsGT (n.3596+1_3596+2delinsGT) c.4361+1_4361+2delinsGT (n.4361+1_4361+2delinsGT) c.4550+1_4550+2delinsGT (n.4550+1_4550+2delinsGT) c.4343+1_4343+2delinsGT (n.4343+1_4343+2delinsGT) c.1046+1_1046+2delinsGT (n.1046+1_1046+2delinsGT) c.1091+1_1091+2delinsGT (n.1091+1_1091+2delinsGT) c.4547+1_4547+2delinsGT (n.4547+1_4547+2delinsGT) c.871+1_871+2delinsGT c.1058+1_1058+2delinsGT (n.1058+1_1058+2delinsGT) c.*4267+1_*4267+2delinsGT (n.*4267+1_*4267+2delinsGT) c.797+1_797+2delinsGT (n.797+1_797+2delinsGT) c.5-12536_5-12535delinsGT (n.5-12536_5-12535delinsGT) c.-43-1966_-43-1965delinsGT (n.-43-1966_-43-1965delinsGT) c.-98-26297_-98-26296delinsGT (n.-98-26297_-98-26296delinsGT) n.4620+1_4620+2delinsGT n.4661+1_4661+2delinsGT | |
| 17 | g.43076488_43076495dup | CA658761220 | BRCA1 | c.4476_4481+2dup c.4479_4484+2dup c.4353_4358+2dup c.4473_4478+2dup c.4401_4406+2dup c.1167_1172+2dup c.1029_1034+2dup c.3591_3596+2dup c.4356_4361+2dup c.4545_4550+2dup c.4338_4343+2dup c.1041_1046+2dup c.1086_1091+2dup c.4542_4547+2dup c.866_871+2dup c.1053_1058+2dup c.*4262_*4267+2dup c.792_797+2dup c.5-12542_5-12535dup (n.5-12542_5-12535dup) c.-43-1972_-43-1965dup (n.-43-1972_-43-1965dup) c.-98-26303_-98-26296dup (n.-98-26303_-98-26296dup) n.4615_4620+2dup n.4656_4661+2dup | gnomAD v4 |
| 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.43076487C>A | CA10592565 | BRCA1 | c.4481+1G>T (n.4481+1G>T) c.4484+1G>T (n.4484+1G>T) c.4358+1G>T (n.4358+1G>T) c.4478+1G>T (n.4478+1G>T) c.4406+1G>T (n.4406+1G>T) c.1172+1G>T (n.1172+1G>T) c.1034+1G>T (n.1034+1G>T) c.3596+1G>T (n.3596+1G>T) c.4361+1G>T (n.4361+1G>T) c.4550+1G>T (n.4550+1G>T) c.4343+1G>T (n.4343+1G>T) c.1046+1G>T (n.1046+1G>T) c.1091+1G>T (n.1091+1G>T) c.4547+1G>T (n.4547+1G>T) c.871+1G>T c.1058+1G>T (n.1058+1G>T) c.*4267+1G>T (n.*4267+1G>T) c.797+1G>T (n.797+1G>T) c.5-12536G>T (n.5-12536G>T) c.-43-1966G>T (n.-43-1966G>T) c.-98-26297G>T (n.-98-26297G>T) n.4620+1G>T n.4661+1G>T | ClinVar dbSNP |
| 17 | g.43076487C= | CA2260775442 | BRCA1 | c.4481+1G= (n.4481+1G=) c.4484+1G= (n.4484+1G=) c.4358+1G= (n.4358+1G=) c.4478+1G= (n.4478+1G=) c.4406+1G= (n.4406+1G=) c.1172+1G= (n.1172+1G=) c.1034+1G= (n.1034+1G=) c.3596+1G= (n.3596+1G=) c.4361+1G= (n.4361+1G=) c.4550+1G= (n.4550+1G=) c.4343+1G= (n.4343+1G=) c.1046+1G= (n.1046+1G=) c.1091+1G= (n.1091+1G=) c.4547+1G= (n.4547+1G=) c.871+1G= c.1058+1G= (n.1058+1G=) c.*4267+1G= (n.*4267+1G=) c.797+1G= (n.797+1G=) c.5-12536G= (n.5-12536G=) c.-43-1966G= (n.-43-1966G=) c.-98-26297G= (n.-98-26297G=) n.4620+1G= n.4661+1G= | |
| 17 | g.43076487C>G | CA10592566 | BRCA1 | c.4481+1G>C (n.4481+1G>C) c.4484+1G>C (n.4484+1G>C) c.4358+1G>C (n.4358+1G>C) c.4478+1G>C (n.4478+1G>C) c.4406+1G>C (n.4406+1G>C) c.1172+1G>C (n.1172+1G>C) c.1034+1G>C (n.1034+1G>C) c.3596+1G>C (n.3596+1G>C) c.4361+1G>C (n.4361+1G>C) c.4550+1G>C (n.4550+1G>C) c.4343+1G>C (n.4343+1G>C) c.1046+1G>C (n.1046+1G>C) c.1091+1G>C (n.1091+1G>C) c.4547+1G>C (n.4547+1G>C) c.871+1G>C c.1058+1G>C (n.1058+1G>C) c.*4267+1G>C (n.*4267+1G>C) c.797+1G>C (n.797+1G>C) c.5-12536G>C (n.5-12536G>C) c.-43-1966G>C (n.-43-1966G>C) c.-98-26297G>C (n.-98-26297G>C) n.4620+1G>C n.4661+1G>C | dbSNP |
| 17 | g.43076487C>T | CA002873 | BRCA1 | c.4481+1G>A (n.4481+1G>A) c.4484+1G>A (n.4484+1G>A) c.4358+1G>A (n.4358+1G>A) c.4478+1G>A (n.4478+1G>A) c.4406+1G>A (n.4406+1G>A) c.1172+1G>A (n.1172+1G>A) c.1034+1G>A (n.1034+1G>A) c.3596+1G>A (n.3596+1G>A) c.4361+1G>A (n.4361+1G>A) c.4550+1G>A (n.4550+1G>A) c.4343+1G>A (n.4343+1G>A) c.1046+1G>A (n.1046+1G>A) c.1091+1G>A (n.1091+1G>A) c.4547+1G>A (n.4547+1G>A) c.871+1G>A c.1058+1G>A (n.1058+1G>A) c.*4267+1G>A (n.*4267+1G>A) c.797+1G>A (n.797+1G>A) c.5-12536G>A (n.5-12536G>A) c.-43-1966G>A (n.-43-1966G>A) c.-98-26297G>A (n.-98-26297G>A) n.4620+1G>A n.4661+1G>A | ClinVar dbSNP |
| 17 | g.43076488del | CA002872 | BRCA1 | c.4481+1del c.4484+1del c.4358+1del c.4478+1del c.4406+1del c.1172+1del c.1034+1del c.3596+1del c.4361+1del c.4550+1del c.4343+1del c.1046+1del c.1091+1del c.4547+1del c.871+1del c.1058+1del c.*4267+1del c.797+1del c.5-12536del (n.5-12536del) c.-43-1966del (n.-43-1966del) c.-98-26297del (n.-98-26297del) n.4620+1del n.4661+1del | ClinVar dbSNP COSMIC |
| 17 | g.43076488C>A | CA002876 | BRCA1 | c.4481G>T (p.Arg1494Met) c.4484G>T (p.Arg1495Met) c.4358G>T (p.Arg1453Met) c.4478G>T (p.Arg1493Met) c.4406G>T (p.Arg1469Met) c.1172G>T (p.Arg391Met) c.1034G>T (p.Arg345Met) c.3596G>T (p.Arg1199Met) c.4361G>T (p.Arg1454Met) c.4550G>T (p.Arg1517Met) c.4343G>T (p.Arg1448Met) c.1046G>T (p.Arg349Met) c.1091G>T (p.Arg364Met) c.4547G>T (p.Arg1516Met) c.871G>T c.1058G>T (p.Arg353Met) c.*4267G>T (n.*4267G>T) c.797G>T (p.Arg266Met) c.800G>T c.5-12537G>T (n.5-12537G>T) c.-43-1967G>T (n.-43-1967G>T) c.-98-26298G>T (n.-98-26298G>T) n.375G>T n.4620G>T n.4661G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43076488C= | CA2260775444 | BRCA1 | c.4481G= (p.Arg1494=) c.4484G= (p.Arg1495=) c.4358G= (p.Arg1453=) c.4478G= (p.Arg1493=) c.4406G= (p.Arg1469=) c.1172G= (p.Arg391=) c.1034G= (p.Arg345=) c.3596G= (p.Arg1199=) c.4361G= (p.Arg1454=) c.4550G= (p.Arg1517=) c.4343G= (p.Arg1448=) c.1046G= (p.Arg349=) c.1091G= (p.Arg364=) c.4547G= (p.Arg1516=) c.871G= c.1058G= (p.Arg353=) c.*4267G= (n.*4267G=) c.797G= (p.Arg266=) c.800G= c.5-12537G= (n.5-12537G=) c.-43-1967G= (n.-43-1967G=) c.-98-26298G= (n.-98-26298G=) n.375G= n.4620G= n.4661G= | |
| 17 | g.43076488C>G | CA10584554 | BRCA1 | c.4481G>C (p.Arg1494Thr) c.4484G>C (p.Arg1495Thr) c.4358G>C (p.Arg1453Thr) c.4478G>C (p.Arg1493Thr) c.4406G>C (p.Arg1469Thr) c.1172G>C (p.Arg391Thr) c.1034G>C (p.Arg345Thr) c.3596G>C (p.Arg1199Thr) c.4361G>C (p.Arg1454Thr) c.4550G>C (p.Arg1517Thr) c.4343G>C (p.Arg1448Thr) c.1046G>C (p.Arg349Thr) c.1091G>C (p.Arg364Thr) c.4547G>C (p.Arg1516Thr) c.871G>C c.1058G>C (p.Arg353Thr) c.*4267G>C (n.*4267G>C) c.797G>C (p.Arg266Thr) c.800G>C c.5-12537G>C (n.5-12537G>C) c.-43-1967G>C (n.-43-1967G>C) c.-98-26298G>C (n.-98-26298G>C) n.375G>C n.4620G>C n.4661G>C | ClinVar dbSNP |
| 17 | g.43076488C>T | CA002875 | BRCA1 | c.4481G>A (p.Arg1494Lys) c.4484G>A (p.Arg1495Lys) c.4358G>A (p.Arg1453Lys) c.4478G>A (p.Arg1493Lys) c.4406G>A (p.Arg1469Lys) c.1172G>A (p.Arg391Lys) c.1034G>A (p.Arg345Lys) c.3596G>A (p.Arg1199Lys) c.4361G>A (p.Arg1454Lys) c.4550G>A (p.Arg1517Lys) c.4343G>A (p.Arg1448Lys) c.1046G>A (p.Arg349Lys) c.1091G>A (p.Arg364Lys) c.4547G>A (p.Arg1516Lys) c.871G>A c.1058G>A (p.Arg353Lys) c.*4267G>A (n.*4267G>A) c.797G>A (p.Arg266Lys) c.800G>A c.5-12537G>A (n.5-12537G>A) c.-43-1967G>A (n.-43-1967G>A) c.-98-26298G>A (n.-98-26298G>A) n.375G>A n.4620G>A n.4661G>A | ClinVar dbSNP |
| 17 | g.43076488_43076490delinsCTT | CA2260775443 | BRCA1 | c.4479_4481delinsAAG (p.Glu1493=) c.4482_4484delinsAAG (p.Glu1494=) c.4356_4358delinsAAG (p.Glu1452=) c.4476_4478delinsAAG (p.Glu1492=) c.4404_4406delinsAAG (p.Glu1468=) c.1170_1172delinsAAG (p.Glu390=) c.1032_1034delinsAAG (p.Glu344=) c.3594_3596delinsAAG (p.Glu1198=) c.4359_4361delinsAAG (p.Glu1453=) c.4548_4550delinsAAG (p.Glu1516=) c.4341_4343delinsAAG (p.Glu1447=) c.1044_1046delinsAAG (p.Glu348=) c.1089_1091delinsAAG (p.Glu363=) c.4545_4547delinsAAG (p.Glu1515=) c.869_871delinsAAG c.1056_1058delinsAAG (p.Glu352=) c.*4265_*4267delinsAAG (n.*4265_*4267delinsAAG) c.795_797delinsAAG (p.Glu265=) c.798_800delinsAAG (p.Glu266=) c.5-12539_5-12537delinsAAG (n.5-12539_5-12537delinsAAG) c.-43-1969_-43-1967delinsAAG (n.-43-1969_-43-1967delinsAAG) c.-98-26300_-98-26298delinsAAG (n.-98-26300_-98-26298delinsAAG) n.373_375delinsAAG n.4618_4620delinsAAG n.4659_4661delinsAAG | |
| 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.43076489T>A | CA10592567 | BRCA1 | c.4480A>T (p.Arg1494Trp) c.4483A>T (p.Arg1495Trp) c.4357A>T (p.Arg1453Trp) c.4477A>T (p.Arg1493Trp) c.4405A>T (p.Arg1469Trp) c.1171A>T (p.Arg391Trp) c.1033A>T (p.Arg345Trp) c.3595A>T (p.Arg1199Trp) c.4360A>T (p.Arg1454Trp) c.4549A>T (p.Arg1517Trp) c.4342A>T (p.Arg1448Trp) c.1045A>T (p.Arg349Trp) c.1090A>T (p.Arg364Trp) c.4546A>T (p.Arg1516Trp) c.870A>T c.1057A>T (p.Arg353Trp) c.*4266A>T (n.*4266A>T) c.796A>T (p.Arg266Trp) c.799A>T c.5-12538A>T (n.5-12538A>T) c.-43-1968A>T (n.-43-1968A>T) c.-98-26299A>T (n.-98-26299A>T) n.374A>T n.4619A>T n.4660A>T | ClinVar |
| 17 | g.43076489T>C | CA10592568 | BRCA1 | c.4480A>G (p.Arg1494Gly) c.4483A>G (p.Arg1495Gly) c.4357A>G (p.Arg1453Gly) c.4477A>G (p.Arg1493Gly) c.4405A>G (p.Arg1469Gly) c.1171A>G (p.Arg391Gly) c.1033A>G (p.Arg345Gly) c.3595A>G (p.Arg1199Gly) c.4360A>G (p.Arg1454Gly) c.4549A>G (p.Arg1517Gly) c.4342A>G (p.Arg1448Gly) c.1045A>G (p.Arg349Gly) c.1090A>G (p.Arg364Gly) c.4546A>G (p.Arg1516Gly) c.870A>G c.1057A>G (p.Arg353Gly) c.*4266A>G (n.*4266A>G) c.796A>G (p.Arg266Gly) c.799A>G c.5-12538A>G (n.5-12538A>G) c.-43-1968A>G (n.-43-1968A>G) c.-98-26299A>G (n.-98-26299A>G) n.374A>G n.4619A>G n.4660A>G | gnomAD v4 |
| 17 | g.43076489T>G | CA500146775 | BRCA1 | c.4480A>C (p.Arg1494=) c.4483A>C (p.Arg1495=) c.4357A>C (p.Arg1453=) c.4477A>C (p.Arg1493=) c.4405A>C (p.Arg1469=) c.1171A>C (p.Arg391=) c.1033A>C (p.Arg345=) c.3595A>C (p.Arg1199=) c.4360A>C (p.Arg1454=) c.4549A>C (p.Arg1517=) c.4342A>C (p.Arg1448=) c.1045A>C (p.Arg349=) c.1090A>C (p.Arg364=) c.4546A>C (p.Arg1516=) c.870A>C c.1057A>C (p.Arg353=) c.*4266A>C (n.*4266A>C) c.796A>C (p.Arg266=) c.799A>C c.5-12538A>C (n.5-12538A>C) c.-43-1968A>C (n.-43-1968A>C) c.-98-26299A>C (n.-98-26299A>C) n.374A>C n.4619A>C n.4660A>C | |
| 17 | g.43076491del | CA10586609 | BRCA1 | c.4480del (p.Arg1494GlyfsTer10) c.4483del (p.Arg1495GlyfsTer10) c.4357del (p.Arg1453GlyfsTer10) c.4477del (p.Arg1493GlyfsTer10) c.4405del (p.Arg1469GlyfsTer10) c.1171del (p.Arg391GlyfsTer10) c.1033del (p.Arg345GlyfsTer10) c.3595del (p.Arg1199GlyfsTer10) c.4360del (p.Arg1454GlyfsTer10) c.4549del (p.Arg1517GlyfsTer10) c.4342del (p.Arg1448GlyfsTer10) c.1045del (p.Arg349GlyfsTer10) c.1090del (p.Arg364GlyfsTer10) c.4546del (p.Arg1516GlyfsTer10) c.870del c.1057del (p.Arg353GlyfsTer10) c.*4266del (n.*4266del) c.796del (p.Arg266GlyfsTer10) c.799del c.5-12538del (n.5-12538del) c.-43-1968del (n.-43-1968del) c.-98-26299del (n.-98-26299del) n.374del n.4619del n.4660del | ClinVar dbSNP |
| 17 | g.43076490_43076491del | CA002869 | BRCA1 | c.4479_4480del (p.Arg1494ValfsTer5) c.4482_4483del (p.Arg1495ValfsTer5) c.4356_4357del (p.Arg1453ValfsTer5) c.4476_4477del (p.Arg1493ValfsTer5) c.4404_4405del (p.Arg1469ValfsTer5) c.1170_1171del (p.Arg391ValfsTer5) c.1032_1033del (p.Arg345ValfsTer5) c.3594_3595del (p.Arg1199ValfsTer5) c.4359_4360del (p.Arg1454ValfsTer5) c.4548_4549del (p.Arg1517ValfsTer5) c.4341_4342del (p.Arg1448ValfsTer5) c.1044_1045del (p.Arg349ValfsTer5) c.1089_1090del (p.Arg364ValfsTer5) c.4545_4546del (p.Arg1516ValfsTer5) c.869_870del c.1056_1057del (p.Arg353ValfsTer5) c.*4265_*4266del (n.*4265_*4266del) c.795_796del (p.Arg266ValfsTer5) c.798_799del (p.Glu266=) c.5-12539_5-12538del (n.5-12539_5-12538del) c.-43-1969_-43-1968del (n.-43-1969_-43-1968del) c.-98-26300_-98-26299del (n.-98-26300_-98-26299del) n.373_374del n.4618_4619del n.4659_4660del | ClinVar dbSNP |
| 17 | g.43076490T>A | CA10592569 | BRCA1 | c.4479A>T (p.Glu1493Asp) c.4482A>T (p.Glu1494Asp) c.4356A>T (p.Glu1452Asp) c.4476A>T (p.Glu1492Asp) c.4404A>T (p.Glu1468Asp) c.1170A>T (p.Glu390Asp) c.1032A>T (p.Glu344Asp) c.3594A>T (p.Glu1198Asp) c.4359A>T (p.Glu1453Asp) c.4548A>T (p.Glu1516Asp) c.4341A>T (p.Glu1447Asp) c.1044A>T (p.Glu348Asp) c.1089A>T (p.Glu363Asp) c.4545A>T (p.Glu1515Asp) c.869A>T c.1056A>T (p.Glu352Asp) c.*4265A>T (n.*4265A>T) c.795A>T (p.Glu265Asp) c.798A>T (p.Glu266Asp) c.5-12539A>T (n.5-12539A>T) c.-43-1969A>T (n.-43-1969A>T) c.-98-26300A>T (n.-98-26300A>T) n.373A>T n.4618A>T n.4659A>T | |
| 17 | g.43076490T>C | CA500146776 | BRCA1 | c.4479A>G (p.Glu1493=) c.4482A>G (p.Glu1494=) c.4356A>G (p.Glu1452=) c.4476A>G (p.Glu1492=) c.4404A>G (p.Glu1468=) c.1170A>G (p.Glu390=) c.1032A>G (p.Glu344=) c.3594A>G (p.Glu1198=) c.4359A>G (p.Glu1453=) c.4548A>G (p.Glu1516=) c.4341A>G (p.Glu1447=) c.1044A>G (p.Glu348=) c.1089A>G (p.Glu363=) c.4545A>G (p.Glu1515=) c.869A>G c.1056A>G (p.Glu352=) c.*4265A>G (n.*4265A>G) c.795A>G (p.Glu265=) c.798A>G (p.Glu266=) c.5-12539A>G (n.5-12539A>G) c.-43-1969A>G (n.-43-1969A>G) c.-98-26300A>G (n.-98-26300A>G) n.373A>G n.4618A>G n.4659A>G | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.43076490T>G | CA10592570 | BRCA1 | c.4479A>C (p.Glu1493Asp) c.4482A>C (p.Glu1494Asp) c.4356A>C (p.Glu1452Asp) c.4476A>C (p.Glu1492Asp) c.4404A>C (p.Glu1468Asp) c.1170A>C (p.Glu390Asp) c.1032A>C (p.Glu344Asp) c.3594A>C (p.Glu1198Asp) c.4359A>C (p.Glu1453Asp) c.4548A>C (p.Glu1516Asp) c.4341A>C (p.Glu1447Asp) c.1044A>C (p.Glu348Asp) c.1089A>C (p.Glu363Asp) c.4545A>C (p.Glu1515Asp) c.869A>C c.1056A>C (p.Glu352Asp) c.*4265A>C (n.*4265A>C) c.795A>C (p.Glu265Asp) c.798A>C (p.Glu266Asp) c.5-12539A>C (n.5-12539A>C) c.-43-1969A>C (n.-43-1969A>C) c.-98-26300A>C (n.-98-26300A>C) n.373A>C n.4618A>C n.4659A>C | |
| 17 | g.43076491T>A | CA10592571 | BRCA1 | c.4478A>T (p.Glu1493Val) c.4481A>T (p.Glu1494Val) c.4355A>T (p.Glu1452Val) c.4475A>T (p.Glu1492Val) c.4403A>T (p.Glu1468Val) c.1169A>T (p.Glu390Val) c.1031A>T (p.Glu344Val) c.3593A>T (p.Glu1198Val) c.4358A>T (p.Glu1453Val) c.4547A>T (p.Glu1516Val) c.4340A>T (p.Glu1447Val) c.1043A>T (p.Glu348Val) c.1088A>T (p.Glu363Val) c.4544A>T (p.Glu1515Val) c.868A>T c.1055A>T (p.Glu352Val) c.*4264A>T (n.*4264A>T) c.794A>T (p.Glu265Val) c.797A>T (p.Glu266Val) c.5-12540A>T (n.5-12540A>T) c.-43-1970A>T (n.-43-1970A>T) c.-98-26301A>T (n.-98-26301A>T) n.372A>T n.4617A>T n.4658A>T | |
| 17 | g.43076491T>C | CA052333 | BRCA1 | c.4478A>G (p.Glu1493Gly) c.4481A>G (p.Glu1494Gly) c.4355A>G (p.Glu1452Gly) c.4475A>G (p.Glu1492Gly) c.4403A>G (p.Glu1468Gly) c.1169A>G (p.Glu390Gly) c.1031A>G (p.Glu344Gly) c.3593A>G (p.Glu1198Gly) c.4358A>G (p.Glu1453Gly) c.4547A>G (p.Glu1516Gly) c.4340A>G (p.Glu1447Gly) c.1043A>G (p.Glu348Gly) c.1088A>G (p.Glu363Gly) c.4544A>G (p.Glu1515Gly) c.868A>G c.1055A>G (p.Glu352Gly) c.*4264A>G (n.*4264A>G) c.794A>G (p.Glu265Gly) c.797A>G (p.Glu266Gly) c.5-12540A>G (n.5-12540A>G) c.-43-1970A>G (n.-43-1970A>G) c.-98-26301A>G (n.-98-26301A>G) n.372A>G n.4617A>G n.4658A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43076491T>G | CA10592572 | BRCA1 | c.4478A>C (p.Glu1493Ala) c.4481A>C (p.Glu1494Ala) c.4355A>C (p.Glu1452Ala) c.4475A>C (p.Glu1492Ala) c.4403A>C (p.Glu1468Ala) c.1169A>C (p.Glu390Ala) c.1031A>C (p.Glu344Ala) c.3593A>C (p.Glu1198Ala) c.4358A>C (p.Glu1453Ala) c.4547A>C (p.Glu1516Ala) c.4340A>C (p.Glu1447Ala) c.1043A>C (p.Glu348Ala) c.1088A>C (p.Glu363Ala) c.4544A>C (p.Glu1515Ala) c.868A>C c.1055A>C (p.Glu352Ala) c.*4264A>C (n.*4264A>C) c.794A>C (p.Glu265Ala) c.797A>C (p.Glu266Ala) c.5-12540A>C (n.5-12540A>C) c.-43-1970A>C (n.-43-1970A>C) c.-98-26301A>C (n.-98-26301A>C) n.372A>C n.4617A>C n.4658A>C | ClinVar |
| 17 | g.43076491T= | CA2260775445 | BRCA1 | c.4478A= (p.Glu1493=) c.4481A= (p.Glu1494=) c.4355A= (p.Glu1452=) c.4475A= (p.Glu1492=) c.4403A= (p.Glu1468=) c.1169A= (p.Glu390=) c.1031A= (p.Glu344=) c.3593A= (p.Glu1198=) c.4358A= (p.Glu1453=) c.4547A= (p.Glu1516=) c.4340A= (p.Glu1447=) c.1043A= (p.Glu348=) c.1088A= (p.Glu363=) c.4544A= (p.Glu1515=) c.868A= c.1055A= (p.Glu352=) c.*4264A= (n.*4264A=) c.794A= (p.Glu265=) c.797A= (p.Glu266=) c.5-12540A= (n.5-12540A=) c.-43-1970A= (n.-43-1970A=) c.-98-26301A= (n.-98-26301A=) n.372A= n.4617A= n.4658A= | |
| 17 | g.43076492C>A | CA002868 | BRCA1 | c.4477G>T (p.Glu1493Ter) c.4480G>T (p.Glu1494Ter) c.4354G>T (p.Glu1452Ter) c.4474G>T (p.Glu1492Ter) c.4402G>T (p.Glu1468Ter) c.1168G>T (p.Glu390Ter) c.1030G>T (p.Glu344Ter) c.3592G>T (p.Glu1198Ter) c.4357G>T (p.Glu1453Ter) c.4546G>T (p.Glu1516Ter) c.4339G>T (p.Glu1447Ter) c.1042G>T (p.Glu348Ter) c.1087G>T (p.Glu363Ter) c.4543G>T (p.Glu1515Ter) c.867G>T c.1054G>T (p.Glu352Ter) c.*4263G>T (n.*4263G>T) c.793G>T (p.Glu265Ter) c.796G>T (p.Glu266Ter) c.5-12541G>T (n.5-12541G>T) c.-43-1971G>T (n.-43-1971G>T) c.-98-26302G>T (n.-98-26302G>T) n.371G>T n.4616G>T n.4657G>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.43076492C= | CA2260775446 | BRCA1 | c.4477G= (p.Glu1493=) c.4480G= (p.Glu1494=) c.4354G= (p.Glu1452=) c.4474G= (p.Glu1492=) c.4402G= (p.Glu1468=) c.1168G= (p.Glu390=) c.1030G= (p.Glu344=) c.3592G= (p.Glu1198=) c.4357G= (p.Glu1453=) c.4546G= (p.Glu1516=) c.4339G= (p.Glu1447=) c.1042G= (p.Glu348=) c.1087G= (p.Glu363=) c.4543G= (p.Glu1515=) c.867G= c.1054G= (p.Glu352=) c.*4263G= (n.*4263G=) c.793G= (p.Glu265=) c.796G= (p.Glu266=) c.5-12541G= (n.5-12541G=) c.-43-1971G= (n.-43-1971G=) c.-98-26302G= (n.-98-26302G=) n.371G= n.4616G= n.4657G= | |
| 17 | g.43076492C>G | CA10592573 | BRCA1 | c.4477G>C (p.Glu1493Gln) c.4480G>C (p.Glu1494Gln) c.4354G>C (p.Glu1452Gln) c.4474G>C (p.Glu1492Gln) c.4402G>C (p.Glu1468Gln) c.1168G>C (p.Glu390Gln) c.1030G>C (p.Glu344Gln) c.3592G>C (p.Glu1198Gln) c.4357G>C (p.Glu1453Gln) c.4546G>C (p.Glu1516Gln) c.4339G>C (p.Glu1447Gln) c.1042G>C (p.Glu348Gln) c.1087G>C (p.Glu363Gln) c.4543G>C (p.Glu1515Gln) c.867G>C c.1054G>C (p.Glu352Gln) c.*4263G>C (n.*4263G>C) c.793G>C (p.Glu265Gln) c.796G>C (p.Glu266Gln) c.5-12541G>C (n.5-12541G>C) c.-43-1971G>C (n.-43-1971G>C) c.-98-26302G>C (n.-98-26302G>C) n.371G>C n.4616G>C n.4657G>C | |
| 17 | g.43076492C>T | CA002867 | BRCA1 | c.4477G>A (p.Glu1493Lys) c.4480G>A (p.Glu1494Lys) c.4354G>A (p.Glu1452Lys) c.4474G>A (p.Glu1492Lys) c.4402G>A (p.Glu1468Lys) c.1168G>A (p.Glu390Lys) c.1030G>A (p.Glu344Lys) c.3592G>A (p.Glu1198Lys) c.4357G>A (p.Glu1453Lys) c.4546G>A (p.Glu1516Lys) c.4339G>A (p.Glu1447Lys) c.1042G>A (p.Glu348Lys) c.1087G>A (p.Glu363Lys) c.4543G>A (p.Glu1515Lys) c.867G>A c.1054G>A (p.Glu352Lys) c.*4263G>A (n.*4263G>A) c.793G>A (p.Glu265Lys) c.796G>A (p.Glu266Lys) c.5-12541G>A (n.5-12541G>A) c.-43-1971G>A (n.-43-1971G>A) c.-98-26302G>A (n.-98-26302G>A) n.371G>A n.4616G>A n.4657G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43076493C>A | CA500146777 | BRCA1 | c.4476G>T (p.Val1492=) c.4479G>T (p.Val1493=) c.4353G>T (p.Val1451=) c.4473G>T (p.Val1491=) c.4401G>T (p.Val1467=) c.1167G>T (p.Val389=) c.1029G>T (p.Val343=) c.3591G>T (p.Val1197=) c.4356G>T (p.Val1452=) c.4545G>T (p.Val1515=) c.4338G>T (p.Val1446=) c.1041G>T (p.Val347=) c.1086G>T (p.Val362=) c.4542G>T (p.Val1514=) c.866G>T c.1053G>T (p.Val351=) c.*4262G>T (n.*4262G>T) c.792G>T (p.Val264=) c.795G>T (p.Val265=) c.5-12542G>T (n.5-12542G>T) c.-43-1972G>T (n.-43-1972G>T) c.-98-26303G>T (n.-98-26303G>T) n.370G>T n.4615G>T n.4656G>T | dbSNP |
| 17 | g.43076493C>G | CA500146778 | BRCA1 | c.4476G>C (p.Val1492=) c.4479G>C (p.Val1493=) c.4353G>C (p.Val1451=) c.4473G>C (p.Val1491=) c.4401G>C (p.Val1467=) c.1167G>C (p.Val389=) c.1029G>C (p.Val343=) c.3591G>C (p.Val1197=) c.4356G>C (p.Val1452=) c.4545G>C (p.Val1515=) c.4338G>C (p.Val1446=) c.1041G>C (p.Val347=) c.1086G>C (p.Val362=) c.4542G>C (p.Val1514=) c.866G>C c.1053G>C (p.Val351=) c.*4262G>C (n.*4262G>C) c.792G>C (p.Val264=) c.795G>C (p.Val265=) c.5-12542G>C (n.5-12542G>C) c.-43-1972G>C (n.-43-1972G>C) c.-98-26303G>C (n.-98-26303G>C) n.370G>C n.4615G>C n.4656G>C | ClinVar dbSNP |
| 17 | g.43076493C>T | CA500146779 | BRCA1 | c.4476G>A (p.Val1492=) c.4479G>A (p.Val1493=) c.4353G>A (p.Val1451=) c.4473G>A (p.Val1491=) c.4401G>A (p.Val1467=) c.1167G>A (p.Val389=) c.1029G>A (p.Val343=) c.3591G>A (p.Val1197=) c.4356G>A (p.Val1452=) c.4545G>A (p.Val1515=) c.4338G>A (p.Val1446=) c.1041G>A (p.Val347=) c.1086G>A (p.Val362=) c.4542G>A (p.Val1514=) c.866G>A c.1053G>A (p.Val351=) c.*4262G>A (n.*4262G>A) c.792G>A (p.Val264=) c.795G>A (p.Val265=) c.5-12542G>A (n.5-12542G>A) c.-43-1972G>A (n.-43-1972G>A) c.-98-26303G>A (n.-98-26303G>A) n.370G>A n.4615G>A n.4656G>A | dbSNP |
| 17 | g.43076494A>C | CA10592574 | BRCA1 | c.4475T>G (p.Val1492Gly) c.4478T>G (p.Val1493Gly) c.4352T>G (p.Val1451Gly) c.4472T>G (p.Val1491Gly) c.4400T>G (p.Val1467Gly) c.1166T>G (p.Val389Gly) c.1028T>G (p.Val343Gly) c.3590T>G (p.Val1197Gly) c.4355T>G (p.Val1452Gly) c.4544T>G (p.Val1515Gly) c.4337T>G (p.Val1446Gly) c.1040T>G (p.Val347Gly) c.1085T>G (p.Val362Gly) c.4541T>G (p.Val1514Gly) c.865T>G c.1052T>G (p.Val351Gly) c.*4261T>G (n.*4261T>G) c.791T>G (p.Val264Gly) c.794T>G (p.Val265Gly) c.5-12543T>G (n.5-12543T>G) c.-43-1973T>G (n.-43-1973T>G) c.-98-26304T>G (n.-98-26304T>G) n.369T>G n.4614T>G n.4655T>G | dbSNP |
| 17 | g.43076494A>G | CA10592575 | BRCA1 | c.4475T>C (p.Val1492Ala) c.4478T>C (p.Val1493Ala) c.4352T>C (p.Val1451Ala) c.4472T>C (p.Val1491Ala) c.4400T>C (p.Val1467Ala) c.1166T>C (p.Val389Ala) c.1028T>C (p.Val343Ala) c.3590T>C (p.Val1197Ala) c.4355T>C (p.Val1452Ala) c.4544T>C (p.Val1515Ala) c.4337T>C (p.Val1446Ala) c.1040T>C (p.Val347Ala) c.1085T>C (p.Val362Ala) c.4541T>C (p.Val1514Ala) c.865T>C c.1052T>C (p.Val351Ala) c.*4261T>C (n.*4261T>C) c.791T>C (p.Val264Ala) c.794T>C (p.Val265Ala) c.5-12543T>C (n.5-12543T>C) c.-43-1973T>C (n.-43-1973T>C) c.-98-26304T>C (n.-98-26304T>C) n.369T>C n.4614T>C n.4655T>C | ClinVar dbSNP |
| 17 | g.43076494A>T | CA10592576 | BRCA1 | c.4475T>A (p.Val1492Glu) c.4478T>A (p.Val1493Glu) c.4352T>A (p.Val1451Glu) c.4472T>A (p.Val1491Glu) c.4400T>A (p.Val1467Glu) c.1166T>A (p.Val389Glu) c.1028T>A (p.Val343Glu) c.3590T>A (p.Val1197Glu) c.4355T>A (p.Val1452Glu) c.4544T>A (p.Val1515Glu) c.4337T>A (p.Val1446Glu) c.1040T>A (p.Val347Glu) c.1085T>A (p.Val362Glu) c.4541T>A (p.Val1514Glu) c.865T>A c.1052T>A (p.Val351Glu) c.*4261T>A (n.*4261T>A) c.791T>A (p.Val264Glu) c.794T>A (p.Val265Glu) c.5-12543T>A (n.5-12543T>A) c.-43-1973T>A (n.-43-1973T>A) c.-98-26304T>A (n.-98-26304T>A) n.369T>A n.4614T>A n.4655T>A | dbSNP gnomAD v4 COSMIC COSMIC |
| 17 | g.43076495C>A | CA10592577 | BRCA1 | c.4474G>T (p.Val1492Leu) c.4477G>T (p.Val1493Leu) c.4351G>T (p.Val1451Leu) c.4471G>T (p.Val1491Leu) c.4399G>T (p.Val1467Leu) c.1165G>T (p.Val389Leu) c.1027G>T (p.Val343Leu) c.3589G>T (p.Val1197Leu) c.4354G>T (p.Val1452Leu) c.4543G>T (p.Val1515Leu) c.4336G>T (p.Val1446Leu) c.1039G>T (p.Val347Leu) c.1084G>T (p.Val362Leu) c.4540G>T (p.Val1514Leu) c.864G>T c.1051G>T (p.Val351Leu) c.*4260G>T (n.*4260G>T) c.790G>T (p.Val264Leu) c.793G>T (p.Val265Leu) c.5-12544G>T (n.5-12544G>T) c.-43-1974G>T (n.-43-1974G>T) c.-98-26305G>T (n.-98-26305G>T) n.368G>T n.4613G>T n.4654G>T | ClinVar dbSNP |
| 17 | g.43076495C= | CA2260775447 | BRCA1 | c.4474G= (p.Val1492=) c.4477G= (p.Val1493=) c.4351G= (p.Val1451=) c.4471G= (p.Val1491=) c.4399G= (p.Val1467=) c.1165G= (p.Val389=) c.1027G= (p.Val343=) c.3589G= (p.Val1197=) c.4354G= (p.Val1452=) c.4543G= (p.Val1515=) c.4336G= (p.Val1446=) c.1039G= (p.Val347=) c.1084G= (p.Val362=) c.4540G= (p.Val1514=) c.864G= c.1051G= (p.Val351=) c.*4260G= (n.*4260G=) c.790G= (p.Val264=) c.793G= (p.Val265=) c.5-12544G= (n.5-12544G=) c.-43-1974G= (n.-43-1974G=) c.-98-26305G= (n.-98-26305G=) n.368G= n.4613G= n.4654G= | |
| 17 | g.43076495C>G | CA10592578 | BRCA1 | c.4474G>C (p.Val1492Leu) c.4477G>C (p.Val1493Leu) c.4351G>C (p.Val1451Leu) c.4471G>C (p.Val1491Leu) c.4399G>C (p.Val1467Leu) c.1165G>C (p.Val389Leu) c.1027G>C (p.Val343Leu) c.3589G>C (p.Val1197Leu) c.4354G>C (p.Val1452Leu) c.4543G>C (p.Val1515Leu) c.4336G>C (p.Val1446Leu) c.1039G>C (p.Val347Leu) c.1084G>C (p.Val362Leu) c.4540G>C (p.Val1514Leu) c.864G>C c.1051G>C (p.Val351Leu) c.*4260G>C (n.*4260G>C) c.790G>C (p.Val264Leu) c.793G>C (p.Val265Leu) c.5-12544G>C (n.5-12544G>C) c.-43-1974G>C (n.-43-1974G>C) c.-98-26305G>C (n.-98-26305G>C) n.368G>C n.4613G>C n.4654G>C | ClinVar dbSNP |