| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43047657T>C | CA003605 | BRCA1 | c.5450A>G (p.Asp1817Gly) c.5453A>G (p.Asp1818Gly) c.5327A>G (p.Asp1776Gly) c.5447A>G (p.Asp1816Gly) c.5375A>G (p.Asp1792Gly) c.2141A>G (p.Asp714Gly) c.2003A>G (p.Asp668Gly) c.4565A>G (p.Asp1522Gly) c.5330A>G (p.Asp1777Gly) c.5519A>G (p.Asp1840Gly) c.5312A>G (p.Asp1771Gly) c.2015A>G (p.Asp672Gly) n.1336A>G n.817A>G c.5516A>G (p.Asp1839Gly) c.1840A>G c.2027A>G (p.Asp676Gly) c.*5236A>G (n.*5236A>G) c.2067A>G (p.Gly689=) c.383A>G (p.Asp128Gly) c.926A>G (p.Asp309Gly) c.152A>G (p.Asp51Gly) n.5589A>G n.5630A>G | ClinVar dbSNP |
| 17 | g.43047657T>A | CA10590481 | BRCA1 | c.5450A>T (p.Asp1817Val) c.5453A>T (p.Asp1818Val) c.5327A>T (p.Asp1776Val) c.5447A>T (p.Asp1816Val) c.5375A>T (p.Asp1792Val) c.2141A>T (p.Asp714Val) c.2003A>T (p.Asp668Val) c.4565A>T (p.Asp1522Val) c.5330A>T (p.Asp1777Val) c.5519A>T (p.Asp1840Val) c.5312A>T (p.Asp1771Val) c.2015A>T (p.Asp672Val) n.1336A>T n.817A>T c.5516A>T (p.Asp1839Val) c.1840A>T c.2027A>T (p.Asp676Val) c.*5236A>T (n.*5236A>T) c.2067A>T (p.Gly689=) c.383A>T (p.Asp128Val) c.926A>T (p.Asp309Val) c.152A>T (p.Asp51Val) n.5589A>T n.5630A>T | ClinVar dbSNP |
| 17 | g.43047657T>G | CA10590482 | BRCA1 | c.5450A>C (p.Asp1817Ala) c.5453A>C (p.Asp1818Ala) c.5327A>C (p.Asp1776Ala) c.5447A>C (p.Asp1816Ala) c.5375A>C (p.Asp1792Ala) c.2141A>C (p.Asp714Ala) c.2003A>C (p.Asp668Ala) c.4565A>C (p.Asp1522Ala) c.5330A>C (p.Asp1777Ala) c.5519A>C (p.Asp1840Ala) c.5312A>C (p.Asp1771Ala) c.2015A>C (p.Asp672Ala) n.1336A>C n.817A>C c.5516A>C (p.Asp1839Ala) c.1840A>C c.2027A>C (p.Asp676Ala) c.*5236A>C (n.*5236A>C) c.2067A>C (p.Gly689=) c.383A>C (p.Asp128Ala) c.926A>C (p.Asp309Ala) c.152A>C (p.Asp51Ala) n.5589A>C n.5630A>C | ClinVar dbSNP |