| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.3481611del | CA16041823 | ASPA,SPATA22 | c.245del (p.Met82SerfsTer9) c.-73-12213del (n.-73-12213del) c.150del (p.Asn50LysfsTer?) n.420del | ClinVar dbSNP |
| 17 | g.3481611T= | CA2243882455 | ASPA,SPATA22 | c.245T= (p.Met82=) c.-73-12213A= (n.-73-12213A=) c.150T= (p.Asn50=) n.420T= | dbSNP dbSNP |