Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.39666015C>T | CA274680 | TCAP | c.410C>T (p.Thr137Ile) c.338C>T (p.Thr113Ile) | ClinVar dbSNP |
17 | g.39666015C>G | CA399305758 | TCAP | c.410C>G (p.Thr137Arg) c.338C>G (p.Thr113Arg) | dbSNP |
17 | g.39666015C>A | CA8532907 | TCAP | c.410C>A (p.Thr137Lys) c.338C>A (p.Thr113Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |