| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.4417180C>A | CA129397 | SUMF1 | c.788G>T (p.Gly263Val) c.713G>T (p.Gly238Val) c.445-6202G>T (n.445-6202G>T) | ClinVar dbSNP |
| 3 | g.4417180C= | CA1342153337 | SUMF1 | c.788G= (p.Gly263=) c.713G= (p.Gly238=) c.445-6202G= (n.445-6202G=) | dbSNP |
| 3 | g.4417180C>T | CA351632075 | SUMF1 | c.788G>A (p.Gly263Asp) c.713G>A (p.Gly238Asp) c.445-6202G>A (n.445-6202G>A) | dbSNP gnomAD v4 |