| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.114404058C>A | CA374619967 | WHRN | c.600G>T (p.Gln200His) c.2256G>T (p.Gln752His) c.1229G>T n.2137G>T c.1107G>T (p.Gln369His) c.1203G>T (p.Gln401His) c.2253G>T (p.Gln751His) c.1593G>T (p.Gln531His) c.2289G>T (p.Gln763His) c.2286G>T (p.Gln762His) c.2163G>T (p.Gln721His) c.2046G>T (p.Gln682His) c.966G>T (p.Gln322His) n.3193G>T n.3091G>T n.2504G>T n.2402G>T | dbSNP |
| 9 | g.114404058C>G | CA180696 | WHRN | c.600G>C (p.Gln200His) c.2256G>C (p.Gln752His) c.1229G>C n.2137G>C c.1107G>C (p.Gln369His) c.1203G>C (p.Gln401His) c.2253G>C (p.Gln751His) c.1593G>C (p.Gln531His) c.2289G>C (p.Gln763His) c.2286G>C (p.Gln762His) c.2163G>C (p.Gln721His) c.2046G>C (p.Gln682His) c.966G>C (p.Gln322His) n.3193G>C n.3091G>C n.2504G>C n.2402G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.114404058C>T | CA1873825922 | WHRN | c.600G>A (p.Gln200=) c.2256G>A (p.Gln752=) c.1229G>A n.2137G>A c.1107G>A (p.Gln369=) c.1203G>A (p.Gln401=) c.2253G>A (p.Gln751=) c.1593G>A (p.Gln531=) c.2289G>A (p.Gln763=) c.2286G>A (p.Gln762=) c.2163G>A (p.Gln721=) c.2046G>A (p.Gln682=) c.966G>A (p.Gln322=) n.3193G>A n.3091G>A n.2504G>A n.2402G>A | dbSNP |