| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43045757A>C | CA10586676 | BRCA1 | c.5510T>G (p.Val1837Gly) c.5513T>G (p.Val1838Gly) c.5387T>G (p.Val1796Gly) c.5507T>G (p.Val1836Gly) c.5435T>G (p.Val1812Gly) c.2201T>G (p.Val734Gly) c.2063T>G (p.Val688Gly) c.4625T>G (p.Val1542Gly) c.5390T>G (p.Val1797Gly) c.5579T>G (p.Val1860Gly) c.5372T>G (p.Val1791Gly) c.2075T>G (p.Val692Gly) n.1396T>G n.877T>G c.5576T>G (p.Val1859Gly) c.1900T>G c.2087T>G (p.Val696Gly) c.*5296T>G (n.*5296T>G) c.*27T>G (n.*27T>G) c.443T>G (p.Val148Gly) c.986T>G (p.Val329Gly) c.212T>G (p.Val71Gly) n.5649T>G n.5690T>G | ClinVar dbSNP |
| 17 | g.43045757A>G | CA10590292 | BRCA1 | c.5510T>C (p.Val1837Ala) c.5513T>C (p.Val1838Ala) c.5387T>C (p.Val1796Ala) c.5507T>C (p.Val1836Ala) c.5435T>C (p.Val1812Ala) c.2201T>C (p.Val734Ala) c.2063T>C (p.Val688Ala) c.4625T>C (p.Val1542Ala) c.5390T>C (p.Val1797Ala) c.5579T>C (p.Val1860Ala) c.5372T>C (p.Val1791Ala) c.2075T>C (p.Val692Ala) n.1396T>C n.877T>C c.5576T>C (p.Val1859Ala) c.1900T>C c.2087T>C (p.Val696Ala) c.*5296T>C (n.*5296T>C) c.*27T>C (n.*27T>C) c.443T>C (p.Val148Ala) c.986T>C (p.Val329Ala) c.212T>C (p.Val71Ala) n.5649T>C n.5690T>C | ClinVar dbSNP |
| 17 | g.43045757A>T | CA003690 | BRCA1 | c.5510T>A (p.Val1837Glu) c.5513T>A (p.Val1838Glu) c.5387T>A (p.Val1796Glu) c.5507T>A (p.Val1836Glu) c.5435T>A (p.Val1812Glu) c.2201T>A (p.Val734Glu) c.2063T>A (p.Val688Glu) c.4625T>A (p.Val1542Glu) c.5390T>A (p.Val1797Glu) c.5579T>A (p.Val1860Glu) c.5372T>A (p.Val1791Glu) c.2075T>A (p.Val692Glu) n.1396T>A n.877T>A c.5576T>A (p.Val1859Glu) c.1900T>A c.2087T>A (p.Val696Glu) c.*5296T>A (n.*5296T>A) c.*27T>A (n.*27T>A) c.443T>A (p.Val148Glu) c.986T>A (p.Val329Glu) c.212T>A (p.Val71Glu) n.5649T>A n.5690T>A | ClinVar dbSNP |