| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.80217084G>A | CA294900009 | SGSH | c.197C>T (p.Ser66Leu) c.232C>T (p.Arg78Trp) n.217C>T n.215C>T c.142C>T n.206C>T c.-65C>T (n.-65C>T) n.284C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80217084G>C | CA117261 | SGSH | c.197C>G (p.Ser66Trp) c.232C>G (p.Arg78Gly) n.217C>G n.215C>G c.142C>G n.206C>G c.-65C>G (n.-65C>G) n.284C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |