| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.4417132G>C | CA351631976 | SUMF1 | c.836C>G (p.Ala279Gly) c.761C>G (p.Ala254Gly) c.445-6154C>G (n.445-6154C>G) | dbSNP gnomAD v2 |
| 3 | g.4417132G>A | CA115674 | SUMF1 | c.836C>T (p.Ala279Val) c.761C>T (p.Ala254Val) c.445-6154C>T (n.445-6154C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4417132G= | CA1342153229 | SUMF1 | c.836C= (p.Ala279=) c.761C= (p.Ala254=) c.445-6154C= (n.445-6154C=) | dbSNP |