| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.151267375G>A | CA3517986 | GM2A | c.506G>A (p.Arg169His) c.413-117G>A (n.413-117G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151267375G>T | CA361808636 | GM2A | c.506G>T (p.Arg169Leu) c.413-117G>T (n.413-117G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151267375G>C | CA114235 | GM2A | c.506G>C (p.Arg169Pro) c.413-117G>C (n.413-117G>C) | ClinVar dbSNP |