| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.87411948G>A | CA123355 | ABCB4 | c.2869C>T (p.Arg957Ter) c.2783+1669C>T (n.2783+1669C>T) c.2764C>T (p.Arg922Ter) c.2784-44C>T (n.2784-44C>T) c.2890C>T (p.Arg964Ter) c.2209C>T (p.Arg737Ter) n.2779-2556C>T c.3139C>T (p.Arg1047Ter) c.3034C>T (p.Arg1012Ter) c.3054-44C>T (n.3054-44C>T) c.3053+1669C>T (n.3053+1669C>T) n.3454-2556C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.87411948G= | CA1723573124 | ABCB4 | c.2869C= (p.Arg957=) c.2783+1669C= (n.2783+1669C=) c.2764C= (p.Arg922=) c.2784-44C= (n.2784-44C=) c.2890C= (p.Arg964=) c.2209C= (p.Arg737=) n.2779-2556C= c.3139C= (p.Arg1047=) c.3034C= (p.Arg1012=) c.3054-44C= (n.3054-44C=) c.3053+1669C= (n.3053+1669C=) n.3454-2556C= | dbSNP |