| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.92454034C>G | CA390667880 | SLC24A4 | c.1015C>G (p.Arg339Gly) c.823C>G (p.Arg275Gly) c.611C>G n.1269C>G c.958C>G (p.Arg320Gly) n.468C>G n.2564C>G c.571C>G (p.Arg191Gly) c.1156C>G (p.Arg386Gly) c.1099C>G (p.Arg367Gly) c.265C>G (p.Arg89Gly) c.97C>G (p.Arg33Gly) | dbSNP gnomAD v4 |
| 14 | g.92454034C>T | CA163395 | SLC24A4 | c.1015C>T (p.Arg339Ter) c.823C>T (p.Arg275Ter) c.611C>T n.1269C>T c.958C>T (p.Arg320Ter) n.468C>T n.2564C>T c.571C>T (p.Arg191Ter) c.1156C>T (p.Arg386Ter) c.1099C>T (p.Arg367Ter) c.265C>T (p.Arg89Ter) c.97C>T (p.Arg33Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.92454034C= | CA3206786712 | SLC24A4 | c.1015C= (p.Arg339=) c.823C= (p.Arg275=) c.611C= n.1269C= c.958C= (p.Arg320=) n.468C= n.2564C= c.571C= (p.Arg191=) c.1156C= (p.Arg386=) c.1099C= (p.Arg367=) c.265C= (p.Arg89=) c.97C= (p.Arg33=) | dbSNP |