| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.67724550C>T | CA252080 | GPHN,RDH12 | c.146C>T (p.Thr49Met) c.1313-10645C>T (n.1313-10645C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67724550C>A | CA7238613 | GPHN,RDH12 | c.146C>A (p.Thr49Lys) c.1313-10645C>A (n.1313-10645C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.67724550C= | CA2144002372 | GPHN,RDH12 | c.146C= (p.Thr49=) c.1313-10645C= (n.1313-10645C=) | dbSNP |