| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.67490153T>C | CA344130 | AIP | c.561T>C c.395T>C (p.Val132Ala) n.1096T>C c.468+698T>C (n.468+698T>C) c.215T>C (p.Val72Ala) c.584T>C (p.Val195Ala) c.407T>C (p.Val136Ala) c.404T>C (p.Val135Ala) c.236T>C (p.Val79Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490153T= | CA1980172323 | AIP | c.561T= c.395T= (p.Val132=) n.1096T= c.468+698T= (n.468+698T=) c.215T= (p.Val72=) c.584T= (p.Val195=) c.407T= (p.Val136=) c.404T= (p.Val135=) c.236T= (p.Val79=) | dbSNP |