| 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 |
| 1 | g.169594713T= | CA1139773109 | SELP | c.2266A= (p.Thr756=) c.2080A= (p.Thr694=) c.2263A= (p.Thr755=) c.1714A= (p.Thr572=) | dbSNP |
| 1 | g.169594713T>A | CA343149883 | SELP | c.2266A>T (p.Thr756Ser) c.2080A>T (p.Thr694Ser) c.2263A>T (p.Thr755Ser) c.1714A>T (p.Thr572Ser) | dbSNP |