Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.89919746G>A | CA8255619 | MC1R | c.488G>A (p.Arg163Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919746G>C | CA397461518 | MC1R | c.488G>C (p.Arg163Pro) | dbSNP |
16 | g.89919746G>T | CA397461521 | MC1R | c.488G>T (p.Arg163Leu) | dbSNP gnomAD v4 |
16 | g.89919746G= | CA2242009586 | MC1R | c.488G= (p.Arg163=) | dbSNP |