| 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 |
| 1 | g.21564118C>G | CA338877991 | ALPL | c.550C>G (p.Arg184Gly) n.610C>G c.319C>G (p.Arg107Gly) c.385C>G (p.Arg129Gly) c.394C>G (p.Arg132Gly) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21564118C= | CA1158014466 | ALPL | c.550C= (p.Arg184=) n.610C= c.319C= (p.Arg107=) c.385C= (p.Arg129=) c.394C= (p.Arg132=) | dbSNP |