| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.87406293G>T | CA368058063 | ABCB4 | c.3481C>A (p.Pro1161Thr) c.3502C>A (p.Pro1168Thr) c.3340C>A (p.Pro1114Thr) n.421C>A c.3397C>A (p.Pro1133Thr) c.3373C>A (p.Pro1125Thr) c.3361C>A (p.Pro1121Thr) c.3523C>A (p.Pro1175Thr) c.2842C>A (p.Pro948Thr) c.3772C>A (p.Pro1258Thr) c.3751C>A (p.Pro1251Thr) c.3667C>A (p.Pro1223Thr) c.3643C>A (p.Pro1215Thr) c.3631C>A (p.Pro1211Thr) c.3610C>A (p.Pro1204Thr) n.4010C>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.87406293G>A | CA123362 | ABCB4 | c.3481C>T (p.Pro1161Ser) c.3502C>T (p.Pro1168Ser) c.3340C>T (p.Pro1114Ser) n.421C>T c.3397C>T (p.Pro1133Ser) c.3373C>T (p.Pro1125Ser) c.3361C>T (p.Pro1121Ser) c.3523C>T (p.Pro1175Ser) c.2842C>T (p.Pro948Ser) c.3772C>T (p.Pro1258Ser) c.3751C>T (p.Pro1251Ser) c.3667C>T (p.Pro1223Ser) c.3643C>T (p.Pro1215Ser) c.3631C>T (p.Pro1211Ser) c.3610C>T (p.Pro1204Ser) n.4010C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |