| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21573722C>T | CA666680 | ALPL | c.920C>T (p.Pro307Leu) c.73-2011C>T c.689C>T (p.Pro230Leu) c.755C>T (p.Pro252Leu) c.764C>T (p.Pro255Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21573722C= | CA1158018338 | ALPL | c.920C= (p.Pro307=) c.73-2011C= c.689C= (p.Pro230=) c.755C= (p.Pro252=) c.764C= (p.Pro255=) | dbSNP |