| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.4417183T>C | CA16617969 | SUMF1 | c.785A>G (p.Gln262Arg) c.710A>G (p.Gln237Arg) c.445-6205A>G (n.445-6205A>G) | ClinVar dbSNP |
| 3 | g.4417183T= | CA1342153344 | SUMF1 | c.785A= (p.Gln262=) c.710A= (p.Gln237=) c.445-6205A= (n.445-6205A=) | dbSNP |