| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43047685C>G | CA10590590 | BRCA1 | c.5422G>C (p.Val1808Leu) c.5425G>C (p.Val1809Leu) c.5299G>C (p.Val1767Leu) c.5419G>C (p.Val1807Leu) c.5347G>C (p.Val1783Leu) c.2113G>C (p.Val705Leu) c.1975G>C (p.Val659Leu) c.4537G>C (p.Val1513Leu) c.5302G>C (p.Val1768Leu) c.5491G>C (p.Val1831Leu) c.5284G>C (p.Val1762Leu) c.1987G>C (p.Val663Leu) n.1308G>C n.789G>C c.5488G>C (p.Val1830Leu) c.1812G>C c.1999G>C (p.Val667Leu) c.*5208G>C (n.*5208G>C) c.2039G>C (p.Gly680Ala) c.355G>C (p.Val119Leu) c.898G>C (p.Val300Leu) c.124G>C (p.Val42Leu) n.5561G>C n.5602G>C | dbSNP |
| 17 | g.43047685C>A | CA003588 | BRCA1 | c.5422G>T (p.Val1808Phe) c.5425G>T (p.Val1809Phe) c.5299G>T (p.Val1767Phe) c.5419G>T (p.Val1807Phe) c.5347G>T (p.Val1783Phe) c.2113G>T (p.Val705Phe) c.1975G>T (p.Val659Phe) c.4537G>T (p.Val1513Phe) c.5302G>T (p.Val1768Phe) c.5491G>T (p.Val1831Phe) c.5284G>T (p.Val1762Phe) c.1987G>T (p.Val663Phe) n.1308G>T n.789G>T c.5488G>T (p.Val1830Phe) c.1812G>T c.1999G>T (p.Val667Phe) c.*5208G>T (n.*5208G>T) c.2039G>T (p.Gly680Val) c.355G>T (p.Val119Phe) c.898G>T (p.Val300Phe) c.124G>T (p.Val42Phe) n.5561G>T n.5602G>T | ClinVar dbSNP |
| 17 | g.43047685C>T | CA10583546 | BRCA1 | c.5422G>A (p.Val1808Ile) c.5425G>A (p.Val1809Ile) c.5299G>A (p.Val1767Ile) c.5419G>A (p.Val1807Ile) c.5347G>A (p.Val1783Ile) c.2113G>A (p.Val705Ile) c.1975G>A (p.Val659Ile) c.4537G>A (p.Val1513Ile) c.5302G>A (p.Val1768Ile) c.5491G>A (p.Val1831Ile) c.5284G>A (p.Val1762Ile) c.1987G>A (p.Val663Ile) n.1308G>A n.789G>A c.5488G>A (p.Val1830Ile) c.1812G>A c.1999G>A (p.Val667Ile) c.*5208G>A (n.*5208G>A) c.2039G>A (p.Gly680Asp) c.355G>A (p.Val119Ile) c.898G>A (p.Val300Ile) c.124G>A (p.Val42Ile) n.5561G>A n.5602G>A | ClinVar dbSNP |