| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21564110C>G | CA338877960 | ALPL | c.542C>G (p.Ser181Trp) n.602C>G c.311C>G (p.Ser104Trp) c.377C>G (p.Ser126Trp) c.386C>G (p.Ser129Trp) | ClinVar dbSNP |
| 1 | g.21564110C>T | CA273974 | ALPL | c.542C>T (p.Ser181Leu) n.602C>T c.311C>T (p.Ser104Leu) c.377C>T (p.Ser126Leu) c.386C>T (p.Ser129Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21564110C= | CA1143361749 | ALPL | c.542C= (p.Ser181=) n.602C= c.311C= (p.Ser104=) c.377C= (p.Ser126=) c.386C= (p.Ser129=) | dbSNP |