| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.32138608G>A | CA339832 | GPD1L | c.247G>A (p.Glu83Lys) c.226-1620G>A (n.226-1620G>A) c.69G>A (p.Ala23=) c.130G>A (p.Glu44Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32138608G>C | CA351974160 | GPD1L | c.247G>C (p.Glu83Gln) c.226-1620G>C (n.226-1620G>C) c.69G>C (p.Ala23=) c.130G>C (p.Glu44Gln) | dbSNP gnomAD v4 |
| 3 | g.32138608G= | CA1355573247 | GPD1L | c.247G= (p.Glu83=) c.226-1620G= (n.226-1620G=) c.69G= (p.Ala23=) c.130G= (p.Glu44=) | dbSNP |