| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.3481793A>G | CA8288915 | ASPA,SPATA22 | c.427A>G (p.Ile143Val) c.-73-12395T>C (n.-73-12395T>C) c.*161A>G (n.*161A>G) n.602A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.3481793A>T | CA8288916 | ASPA,SPATA22 | c.427A>T (p.Ile143Phe) c.-73-12395T>A (n.-73-12395T>A) c.*161A>T (n.*161A>T) n.602A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |