| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21563213C>A | CA666476 | ALPL | c.401C>A (p.Thr134Asn) n.461C>A c.170C>A (p.Thr57Asn) c.236C>A (p.Thr79Asn) c.245C>A (p.Thr82Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21563213C= | CA1158014045 | ALPL | c.401C= (p.Thr134=) n.461C= c.170C= (p.Thr57=) c.236C= (p.Thr79=) c.245C= (p.Thr82=) | dbSNP |