| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21564118C>T | CA666527 | ALPL | c.550C>T (p.Arg184Trp) n.610C>T c.319C>T (p.Arg107Trp) c.385C>T (p.Arg129Trp) c.394C>T (p.Arg132Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.21564118C>A | CA416527897 | ALPL | c.550C>A (p.Arg184=) n.610C>A c.319C>A (p.Arg107=) c.385C>A (p.Arg129=) c.394C>A (p.Arg132=) | ClinVar dbSNP |