Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43057114C>A | CA003366 | BRCA1 | c.5212G>T (p.Asp1738Tyr) c.5215G>T (p.Asp1739Tyr) c.5089G>T (p.Asp1697Tyr) c.5209G>T (p.Asp1737Tyr) c.5137G>T (p.Asp1713Tyr) c.1903G>T (p.Asp635Tyr) c.1765G>T (p.Asp589Tyr) c.4327G>T (p.Asp1443Tyr) c.5092G>T (p.Asp1698Tyr) c.5281G>T (p.Asp1761Tyr) c.5074G>T (p.Asp1692Tyr) c.1777G>T (p.Asp593Tyr) c.5278G>T (p.Asp1760Tyr) c.1602G>T c.1789G>T (p.Asp597Tyr) c.*4998G>T (n.*4998G>T) c.145G>T (p.Asp49Tyr) c.688G>T (p.Asp230Tyr) c.-98-6924G>T (n.-98-6924G>T) n.5351G>T n.5392G>T | ClinVar dbSNP |
17 | g.43057114C>G | CA10591110 | BRCA1 | c.5212G>C (p.Asp1738His) c.5215G>C (p.Asp1739His) c.5089G>C (p.Asp1697His) c.5209G>C (p.Asp1737His) c.5137G>C (p.Asp1713His) c.1903G>C (p.Asp635His) c.1765G>C (p.Asp589His) c.4327G>C (p.Asp1443His) c.5092G>C (p.Asp1698His) c.5281G>C (p.Asp1761His) c.5074G>C (p.Asp1692His) c.1777G>C (p.Asp593His) c.5278G>C (p.Asp1760His) c.1602G>C c.1789G>C (p.Asp597His) c.*4998G>C (n.*4998G>C) c.145G>C (p.Asp49His) c.688G>C (p.Asp230His) c.-98-6924G>C (n.-98-6924G>C) n.5351G>C n.5392G>C | ClinVar dbSNP |
17 | g.43057114C>T | CA10591111 | BRCA1 | c.5212G>A (p.Asp1738Asn) c.5215G>A (p.Asp1739Asn) c.5089G>A (p.Asp1697Asn) c.5209G>A (p.Asp1737Asn) c.5137G>A (p.Asp1713Asn) c.1903G>A (p.Asp635Asn) c.1765G>A (p.Asp589Asn) c.4327G>A (p.Asp1443Asn) c.5092G>A (p.Asp1698Asn) c.5281G>A (p.Asp1761Asn) c.5074G>A (p.Asp1692Asn) c.1777G>A (p.Asp593Asn) c.5278G>A (p.Asp1760Asn) c.1602G>A c.1789G>A (p.Asp597Asn) c.*4998G>A (n.*4998G>A) c.145G>A (p.Asp49Asn) c.688G>A (p.Asp230Asn) c.-98-6924G>A (n.-98-6924G>A) n.5351G>A n.5392G>A | ClinVar dbSNP gnomAD v4 |