| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43071046G>C | CA003058 | BRCA1 | c.4865C>G (p.Ala1622Gly) c.4868C>G (p.Ala1623Gly) c.4742C>G (p.Ala1581Gly) c.4862C>G (p.Ala1621Gly) c.4790C>G (p.Ala1597Gly) c.1556C>G (p.Ala519Gly) c.1418C>G (p.Ala473Gly) c.3980C>G (p.Ala1327Gly) c.4745C>G (p.Ala1582Gly) c.4934C>G (p.Ala1645Gly) c.4727C>G (p.Ala1576Gly) c.1430C>G (p.Ala477Gly) c.1475C>G (p.Ala492Gly) c.4931C>G (p.Ala1644Gly) c.1255C>G c.1442C>G (p.Ala481Gly) c.*4651C>G (n.*4651C>G) n.21C>G c.1181C>G (p.Ala394Gly) c.5-7095C>G (n.5-7095C>G) c.341C>G (p.Ala114Gly) c.-98-20856C>G (n.-98-20856C>G) n.5004C>G n.5045C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43071046G>T | CA10591791 | BRCA1 | c.4865C>A (p.Ala1622Asp) c.4868C>A (p.Ala1623Asp) c.4742C>A (p.Ala1581Asp) c.4862C>A (p.Ala1621Asp) c.4790C>A (p.Ala1597Asp) c.1556C>A (p.Ala519Asp) c.1418C>A (p.Ala473Asp) c.3980C>A (p.Ala1327Asp) c.4745C>A (p.Ala1582Asp) c.4934C>A (p.Ala1645Asp) c.4727C>A (p.Ala1576Asp) c.1430C>A (p.Ala477Asp) c.1475C>A (p.Ala492Asp) c.4931C>A (p.Ala1644Asp) c.1255C>A c.1442C>A (p.Ala481Asp) c.*4651C>A (n.*4651C>A) n.21C>A c.1181C>A (p.Ala394Asp) c.5-7095C>A (n.5-7095C>A) c.341C>A (p.Ala114Asp) c.-98-20856C>A (n.-98-20856C>A) n.5004C>A n.5045C>A | dbSNP |
| 17 | g.43071046G>A | CA10591790 | BRCA1 | c.4865C>T (p.Ala1622Val) c.4868C>T (p.Ala1623Val) c.4742C>T (p.Ala1581Val) c.4862C>T (p.Ala1621Val) c.4790C>T (p.Ala1597Val) c.1556C>T (p.Ala519Val) c.1418C>T (p.Ala473Val) c.3980C>T (p.Ala1327Val) c.4745C>T (p.Ala1582Val) c.4934C>T (p.Ala1645Val) c.4727C>T (p.Ala1576Val) c.1430C>T (p.Ala477Val) c.1475C>T (p.Ala492Val) c.4931C>T (p.Ala1644Val) c.1255C>T c.1442C>T (p.Ala481Val) c.*4651C>T (n.*4651C>T) n.21C>T c.1181C>T (p.Ala394Val) c.5-7095C>T (n.5-7095C>T) c.341C>T (p.Ala114Val) c.-98-20856C>T (n.-98-20856C>T) n.5004C>T n.5045C>T | ClinVar dbSNP |