| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71124445G>A | CA339966 | MCEE | c.139C>T (p.Arg47Ter) c.7C>T (p.Arg3Ter) c.-147C>T (n.-147C>T) n.208C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71124445G>C | CA347189294 | MCEE | c.139C>G (p.Arg47Gly) c.7C>G (p.Arg3Gly) c.-147C>G (n.-147C>G) n.208C>G | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.71124445G= | CA1259891323 | MCEE | c.139C= (p.Arg47=) c.7C= (p.Arg3=) c.-147C= (n.-147C=) n.208C= | dbSNP |
| 2 | g.71124445G>T | CA426691506 | MCEE | c.139C>A (p.Arg47=) c.7C>A (p.Arg3=) c.-147C>A (n.-147C>A) n.208C>A | dbSNP gnomAD v4 |