| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21577632del | CA256931 | ALPL | c.1559del (p.Leu520ArgfsTer?) n.828del c.634del c.1328del (p.Leu443ArgfsTer?) c.1394del (p.Leu465ArgfsTer?) c.1403del (p.Leu468ArgfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21577632T= | CA1144228701 | ALPL | c.1559T= (p.Leu520=) n.828T= c.634T= c.1328T= (p.Leu443=) c.1394T= (p.Leu465=) c.1403T= (p.Leu468=) | dbSNP dbSNP |