| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.87411984G>A | CA10604403 | ABCB4 | c.2833C>T (p.Gln945Ter) c.2783+1633C>T (n.2783+1633C>T) c.2728C>T (p.Gln910Ter) c.2784-80C>T (n.2784-80C>T) c.2854C>T (p.Gln952Ter) c.2173C>T (p.Gln725Ter) n.2779-2592C>T c.3103C>T (p.Gln1035Ter) c.2998C>T (p.Gln1000Ter) c.3054-80C>T (n.3054-80C>T) c.3053+1633C>T (n.3053+1633C>T) n.3454-2592C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.87411984G= | CA1723573198 | ABCB4 | c.2833C= (p.Gln945=) c.2783+1633C= (n.2783+1633C=) c.2728C= (p.Gln910=) c.2784-80C= (n.2784-80C=) c.2854C= (p.Gln952=) c.2173C= (p.Gln725=) n.2779-2592C= c.3103C= (p.Gln1035=) c.2998C= (p.Gln1000=) c.3054-80C= (n.3054-80C=) c.3053+1633C= (n.3053+1633C=) n.3454-2592C= | dbSNP |