Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.4912055C>T | CA341655 | KCNA1 | c.677C>T (p.Thr226Met) n.105+1583C>T c.515C>T (p.Thr172Met) n.96+1583C>T | ClinVar dbSNP COSMIC |
12 | g.4912055C>A | CA123138 | KCNA1 | c.677C>A (p.Thr226Lys) n.105+1583C>A c.515C>A (p.Thr172Lys) n.96+1583C>A | ClinVar dbSNP |
12 | g.4912055C>G | CA341290 | KCNA1 | c.677C>G (p.Thr226Arg) n.105+1583C>G c.515C>G (p.Thr172Arg) n.96+1583C>G | ClinVar dbSNP |