| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.67726084C>T | CA115315 | GPHN,RDH12 | c.377C>T (p.Ala126Val) c.1313-9111C>T (n.1313-9111C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.67726084C>A | CA390150075 | GPHN,RDH12 | c.377C>A (p.Ala126Glu) c.1313-9111C>A (n.1313-9111C>A) | ClinVar dbSNP gnomAD v4 |
| 14 | g.67726084C= | CA2144003015 | GPHN,RDH12 | c.377C= (p.Ala126=) c.1313-9111C= (n.1313-9111C=) | dbSNP |