| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.184376290C>T | CA1425999336 | EIF2B5,THPO | c.390G>A (p.Arg130=) c.-31G>A (n.-31G>A) c.2106+231583C>T (n.2106+231583C>T) | dbSNP |
| 3 | g.184376290C>A | CA2520978214 | EIF2B5,THPO | c.390G>T (p.Arg130Ser) c.-31G>T (n.-31G>T) c.2106+231583C>A (n.2106+231583C>A) | ClinVar dbSNP |
| 3 | g.184376290C>G | CA2735103 | EIF2B5,THPO | c.390G>C (p.Arg130Ser) c.-31G>C (n.-31G>C) c.2106+231583C>G (n.2106+231583C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |