Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.223053265T>A | CA351121544 | KCNE4 | c.435T>A (p.Asp145Glu) c.588T>A (p.Asp196Glu) n.75+991T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053265T>G | CA2137860 | KCNE4 | c.435T>G (p.Asp145Glu) c.588T>G (p.Asp196Glu) n.75+991T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053265T>C | CA431595344 | KCNE4 | c.435T>C (p.Asp145=) c.588T>C (p.Asp196=) n.75+991T>C | dbSNP |