| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.87423953dup | CA123365 | ABCB4 | c.2169dup (p.Leu724AlafsTer21) c.2185dup (n.2185dup) n.373dup c.2169dup (p.Leu724AlafsTer?) c.2190dup (p.Leu731AlafsTer21) c.1509dup (p.Leu504AlafsTer21) n.2265dup c.2439dup (p.Leu814AlafsTer21) c.2439dup (p.Leu814AlafsTer?) n.2940dup n.2935dup | ClinVar dbSNP ExAC gnomAD v4 |
| 7 | g.87423953del | CA456348131 | ABCB4 | c.2169del (p.Leu724PhefsTer13) c.2185del (n.2185del) n.373del c.2190del (p.Leu731PhefsTer13) c.1509del (p.Leu504PhefsTer13) n.2265del c.2439del (p.Leu814PhefsTer13) n.2940del n.2935del | ClinVar dbSNP COSMIC COSMIC |