| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.168973818A>G | CA201032 | ABCB11 | c.1331T>C (p.Val444Ala) c.1373T>C (p.Val458Ala) c.1433T>C (p.Val478Ala) c.662T>C (p.Val221Ala) c.116T>C (p.Val39Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.168973818A>C | CA59882133 | ABCB11 | c.1331T>G (p.Val444Gly) c.1373T>G (p.Val458Gly) c.1433T>G (p.Val478Gly) c.662T>G (p.Val221Gly) c.116T>G (p.Val39Gly) | dbSNP |
| 2 | g.168973818A>T | CA59882138 | ABCB11 | c.1331T>A (p.Val444Asp) c.1373T>A (p.Val458Asp) c.1433T>A (p.Val478Asp) c.662T>A (p.Val221Asp) c.116T>A (p.Val39Asp) | dbSNP gnomAD v4 |