| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.4417229C>G | CA16040928 | SUMF1 | c.739G>C (p.Gly247Arg) c.664G>C (p.Gly222Arg) c.445-6251G>C (n.445-6251G>C) | ClinVar dbSNP gnomAD v4 |
| 3 | g.4417229C= | CA1342153410 | SUMF1 | c.739G= (p.Gly247=) c.664G= (p.Gly222=) c.445-6251G= (n.445-6251G=) | dbSNP |