| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.4376338A>G | CA115673 | SUMF1 | c.1006T>C (p.Cys336Arg) c.931T>C (p.Cys311Arg) c.955-14084T>C (n.955-14084T>C) c.610T>C (p.Cys204Arg) c.954+34527T>C (n.954+34527T>C) | ClinVar dbSNP |
| 3 | g.4376338A= | CA1342130134 | SUMF1 | c.1006T= (p.Cys336=) c.931T= (p.Cys311=) c.955-14084T= (n.955-14084T=) c.610T= (p.Cys204=) c.954+34527T= (n.954+34527T=) | dbSNP |