| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.43873809C>T | CA253366 | ABCG8 | c.1234C>T (p.Arg412Ter) c.1246C>T (p.Arg416Ter) c.1231C>T (p.Arg411Ter) c.1243C>T (p.Arg415Ter) c.1018C>T (p.Arg340Ter) n.1736C>T n.1750C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.43873809C= | CA2493962854 | ABCG8 | c.1234C= (p.Arg412=) c.1246C= (p.Arg416=) c.1231C= (p.Arg411=) c.1243C= (p.Arg415=) c.1018C= (p.Arg340=) n.1736C= n.1750C= | dbSNP |