| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.67581531A>G | CA11725593 | STAP1 | c.530+60A>G (n.530+60A>G) n.588+60A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.67581531A>C | CA1465349681 | STAP1 | c.530+60A>C (n.530+60A>C) n.588+60A>C | dbSNP |
| 4 | g.67581531A= | CA1465349682 | STAP1 | c.530+60A= (n.530+60A=) n.588+60A= | dbSNP |
| 4 | g.67581531A>T | CA2581422415 | STAP1 | c.530+60A>T (n.530+60A>T) n.588+60A>T | dbSNP |