| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.43846309C>G | CA343788 | ABCG8 | c.320C>G (p.Ser107Ter) n.777C>G c.332C>G (p.Ser111Ter) c.104C>G (p.Ser35Ter) n.822C>G n.836C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.43846309C>T | CA346663712 | ABCG8 | c.320C>T (p.Ser107Leu) n.777C>T c.332C>T (p.Ser111Leu) c.104C>T (p.Ser35Leu) n.822C>T n.836C>T | ClinVar dbSNP gnomAD v4 |
| 2 | g.43846309C= | CA2493945169 | ABCG8 | c.320C= (p.Ser107=) n.777C= c.332C= (p.Ser111=) c.104C= (p.Ser35=) n.822C= n.836C= | dbSNP |