Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.10631494A>T | CA404019315 | SLC44A2 | c.461A>T (p.Gln154Leu) c.455A>T (p.Gln152Leu) c.246-3262A>T (n.246-3262A>T) n.370A>T c.302A>T (p.Gln101Leu) c.296A>T (p.Gln99Leu) c.-89A>T (n.-89A>T) c.*258A>T (n.*258A>T) | dbSNP |
19 | g.10631494A>G | CA9198354 | SLC44A2 | c.461A>G (p.Gln154Arg) c.455A>G (p.Gln152Arg) c.246-3262A>G (n.246-3262A>G) n.370A>G c.302A>G (p.Gln101Arg) c.296A>G (p.Gln99Arg) c.-89A>G (n.-89A>G) c.*258A>G (n.*258A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |