| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21577473T>G | CA338882119 | ALPL | c.1400T>G (p.Met467Arg) n.669T>G c.475T>G c.1169T>G (p.Met390Arg) c.1235T>G (p.Met412Arg) c.1244T>G (p.Met415Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21577473T>C | CA666841 | ALPL | c.1400T>C (p.Met467Thr) n.669T>C c.475T>C c.1169T>C (p.Met390Thr) c.1235T>C (p.Met412Thr) c.1244T>C (p.Met415Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |