| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.43875377G>A | CA253361 | ABCG8 | c.1720G>A (p.Gly574Arg) c.1717G>A (p.Gly573Arg) c.1732G>A (p.Gly578Arg) c.1729G>A (p.Gly577Arg) c.1504G>A (p.Gly502Arg) n.2222G>A n.2236G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.43875377G>T | CA346670659 | ABCG8 | c.1720G>T (p.Gly574Trp) c.1717G>T (p.Gly573Trp) c.1732G>T (p.Gly578Trp) c.1729G>T (p.Gly577Trp) c.1504G>T (p.Gly502Trp) n.2222G>T n.2236G>T | dbSNP gnomAD v4 |
| 2 | g.43875377G= | CA2493963728 | ABCG8 | c.1720G= (p.Gly574=) c.1717G= (p.Gly573=) c.1732G= (p.Gly578=) c.1729G= (p.Gly577=) c.1504G= (p.Gly502=) n.2222G= n.2236G= | dbSNP |