| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43049188A>T | CA10590784 | BRCA1 | c.5336T>A (p.Leu1779Gln) c.5339T>A (p.Leu1780Gln) c.5213T>A (p.Leu1738Gln) c.5333T>A (p.Leu1778Gln) c.5261T>A (p.Leu1754Gln) c.2027T>A (p.Leu676Gln) c.1889T>A (p.Leu630Gln) c.4451T>A (p.Leu1484Gln) c.5216T>A (p.Leu1739Gln) c.5405T>A (p.Leu1802Gln) c.5198T>A (p.Leu1733Gln) c.1901T>A (p.Leu634Gln) n.1222T>A c.5402T>A (p.Leu1801Gln) c.1726T>A c.1913T>A (p.Leu638Gln) c.*5122T>A (n.*5122T>A) c.2021-1485T>A (n.2021-1485T>A) c.269T>A (p.Leu90Gln) c.812T>A (p.Leu271Gln) c.38T>A (p.Leu13Gln) n.5475T>A n.5516T>A | ClinVar dbSNP |
| 17 | g.43049188A>C | CA003509 | BRCA1 | c.5336T>G (p.Leu1779Arg) c.5339T>G (p.Leu1780Arg) c.5213T>G (p.Leu1738Arg) c.5333T>G (p.Leu1778Arg) c.5261T>G (p.Leu1754Arg) c.2027T>G (p.Leu676Arg) c.1889T>G (p.Leu630Arg) c.4451T>G (p.Leu1484Arg) c.5216T>G (p.Leu1739Arg) c.5405T>G (p.Leu1802Arg) c.5198T>G (p.Leu1733Arg) c.1901T>G (p.Leu634Arg) n.1222T>G c.5402T>G (p.Leu1801Arg) c.1726T>G c.1913T>G (p.Leu638Arg) c.*5122T>G (n.*5122T>G) c.2021-1485T>G (n.2021-1485T>G) c.269T>G (p.Leu90Arg) c.812T>G (p.Leu271Arg) c.38T>G (p.Leu13Arg) n.5475T>G n.5516T>G | ClinVar dbSNP |
| 17 | g.43049188A>G | CA003508 | BRCA1 | c.5336T>C (p.Leu1779Pro) c.5339T>C (p.Leu1780Pro) c.5213T>C (p.Leu1738Pro) c.5333T>C (p.Leu1778Pro) c.5261T>C (p.Leu1754Pro) c.2027T>C (p.Leu676Pro) c.1889T>C (p.Leu630Pro) c.4451T>C (p.Leu1484Pro) c.5216T>C (p.Leu1739Pro) c.5405T>C (p.Leu1802Pro) c.5198T>C (p.Leu1733Pro) c.1901T>C (p.Leu634Pro) n.1222T>C c.5402T>C (p.Leu1801Pro) c.1726T>C c.1913T>C (p.Leu638Pro) c.*5122T>C (n.*5122T>C) c.2021-1485T>C (n.2021-1485T>C) c.269T>C (p.Leu90Pro) c.812T>C (p.Leu271Pro) c.38T>C (p.Leu13Pro) n.5475T>C n.5516T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |