Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44892887C>A | CA406296036 | TOMM40 | c.393C>A (p.Phe131Leu) | dbSNP |
19 | g.44892887C>T | CA9505634 | TOMM40 | c.393C>T (p.Phe131=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44892887C= | CA2338159553 | TOMM40 | c.393C= (p.Phe131=) | dbSNP |