| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43051071A>T | CA003476 | BRCA1 | c.5321T>A (p.Met1774Lys) c.5324T>A (p.Met1775Lys) c.5198T>A (p.Met1733Lys) c.5318T>A (p.Met1773Lys) c.5246T>A (p.Met1749Lys) c.2012T>A (p.Met671Lys) c.1874T>A (p.Met625Lys) c.4436T>A (p.Met1479Lys) c.5201T>A (p.Met1734Lys) c.5390T>A (p.Met1797Lys) c.5183T>A (p.Met1728Lys) c.1886T>A (p.Met629Lys) c.5387T>A (p.Met1796Lys) c.1711T>A c.1898T>A (p.Met633Lys) c.*5107T>A (n.*5107T>A) c.254T>A (p.Met85Lys) c.797T>A (p.Met266Lys) c.-98-881T>A (n.-98-881T>A) n.5460T>A n.5501T>A | ClinVar dbSNP |
| 17 | g.43051071A>G | CA10590903 | BRCA1 | c.5321T>C (p.Met1774Thr) c.5324T>C (p.Met1775Thr) c.5198T>C (p.Met1733Thr) c.5318T>C (p.Met1773Thr) c.5246T>C (p.Met1749Thr) c.2012T>C (p.Met671Thr) c.1874T>C (p.Met625Thr) c.4436T>C (p.Met1479Thr) c.5201T>C (p.Met1734Thr) c.5390T>C (p.Met1797Thr) c.5183T>C (p.Met1728Thr) c.1886T>C (p.Met629Thr) c.5387T>C (p.Met1796Thr) c.1711T>C c.1898T>C (p.Met633Thr) c.*5107T>C (n.*5107T>C) c.254T>C (p.Met85Thr) c.797T>C (p.Met266Thr) c.-98-881T>C (n.-98-881T>C) n.5460T>C n.5501T>C | ClinVar dbSNP |
| 17 | g.43051071A>C | CA003478 | BRCA1 | c.5321T>G (p.Met1774Arg) c.5324T>G (p.Met1775Arg) c.5198T>G (p.Met1733Arg) c.5318T>G (p.Met1773Arg) c.5246T>G (p.Met1749Arg) c.2012T>G (p.Met671Arg) c.1874T>G (p.Met625Arg) c.4436T>G (p.Met1479Arg) c.5201T>G (p.Met1734Arg) c.5390T>G (p.Met1797Arg) c.5183T>G (p.Met1728Arg) c.1886T>G (p.Met629Arg) c.5387T>G (p.Met1796Arg) c.1711T>G c.1898T>G (p.Met633Arg) c.*5107T>G (n.*5107T>G) c.254T>G (p.Met85Arg) c.797T>G (p.Met266Arg) c.-98-881T>G (n.-98-881T>G) n.5460T>G n.5501T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |