| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.169594713T>C | CA343149892 | SELP | c.2266A>G (p.Thr756Ala) c.2080A>G (p.Thr694Ala) c.2263A>G (p.Thr755Ala) c.1714A>G (p.Thr572Ala) | dbSNP gnomAD v4 |
| 1 | g.169594713T>G | CA123169 | SELP | c.2266A>C (p.Thr756Pro) c.2080A>C (p.Thr694Pro) c.2263A>C (p.Thr755Pro) c.1714A>C (p.Thr572Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |