Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.18383723C>G | CA9984766 | TMPRSS15 | c.400G>C (p.Glu134Gln) c.265G>C (p.Glu89Gln) c.-222G>C (n.-222G>C) c.490G>C (p.Glu164Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.18383723C>T | CA318111831 | TMPRSS15 | c.400G>A (p.Glu134Lys) c.265G>A (p.Glu89Lys) c.-222G>A (n.-222G>A) c.490G>A (p.Glu164Lys) | dbSNP gnomAD v4 |