| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43067625T>G | CA10591406 | BRCA1 | c.5054A>C (p.His1685Pro) c.5057A>C (p.His1686Pro) c.4931A>C (p.His1644Pro) c.5051A>C (p.His1684Pro) c.4979A>C (p.His1660Pro) c.1745A>C (p.His582Pro) c.1607A>C (p.His536Pro) c.4169A>C (p.His1390Pro) c.4934A>C (p.His1645Pro) c.5123A>C (p.His1708Pro) c.4916A>C (p.His1639Pro) c.1619A>C (p.His540Pro) c.5120A>C (p.His1707Pro) c.1444A>C c.1631A>C (p.His544Pro) c.*4840A>C (n.*4840A>C) n.210A>C c.1370A>C (p.His457Pro) c.5-3674A>C (n.5-3674A>C) c.530A>C (p.His177Pro) c.-98-17435A>C (n.-98-17435A>C) n.5193A>C n.5234A>C | ClinVar dbSNP |
| 17 | g.43067625T>A | CA10591405 | BRCA1 | c.5054A>T (p.His1685Leu) c.5057A>T (p.His1686Leu) c.4931A>T (p.His1644Leu) c.5051A>T (p.His1684Leu) c.4979A>T (p.His1660Leu) c.1745A>T (p.His582Leu) c.1607A>T (p.His536Leu) c.4169A>T (p.His1390Leu) c.4934A>T (p.His1645Leu) c.5123A>T (p.His1708Leu) c.4916A>T (p.His1639Leu) c.1619A>T (p.His540Leu) c.5120A>T (p.His1707Leu) c.1444A>T c.1631A>T (p.His544Leu) c.*4840A>T (n.*4840A>T) n.210A>T c.1370A>T (p.His457Leu) c.5-3674A>T (n.5-3674A>T) c.530A>T (p.His177Leu) c.-98-17435A>T (n.-98-17435A>T) n.5193A>T n.5234A>T | ClinVar dbSNP |
| 17 | g.43067625T>C | CA003177 | BRCA1 | c.5054A>G (p.His1685Arg) c.5057A>G (p.His1686Arg) c.4931A>G (p.His1644Arg) c.5051A>G (p.His1684Arg) c.4979A>G (p.His1660Arg) c.1745A>G (p.His582Arg) c.1607A>G (p.His536Arg) c.4169A>G (p.His1390Arg) c.4934A>G (p.His1645Arg) c.5123A>G (p.His1708Arg) c.4916A>G (p.His1639Arg) c.1619A>G (p.His540Arg) c.5120A>G (p.His1707Arg) c.1444A>G c.1631A>G (p.His544Arg) c.*4840A>G (n.*4840A>G) n.210A>G c.1370A>G (p.His457Arg) c.5-3674A>G (n.5-3674A>G) c.530A>G (p.His177Arg) c.-98-17435A>G (n.-98-17435A>G) n.5193A>G n.5234A>G | ClinVar dbSNP gnomAD v4 |
| 17 | g.43067625T= | CA2260771328 | BRCA1 | c.5054A= (p.His1685=) c.5057A= (p.His1686=) c.4931A= (p.His1644=) c.5051A= (p.His1684=) c.4979A= (p.His1660=) c.1745A= (p.His582=) c.1607A= (p.His536=) c.4169A= (p.His1390=) c.4934A= (p.His1645=) c.5123A= (p.His1708=) c.4916A= (p.His1639=) c.1619A= (p.His540=) c.5120A= (p.His1707=) c.1444A= c.1631A= (p.His544=) c.*4840A= (n.*4840A=) n.210A= c.1370A= (p.His457=) c.5-3674A= (n.5-3674A=) c.530A= (p.His177=) c.-98-17435A= (n.-98-17435A=) n.5193A= n.5234A= | dbSNP |