| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.4376365G>A | CA115669 | SUMF1 | c.979C>T (p.Arg327Ter) c.904C>T (p.Arg302Ter) c.955-14111C>T (n.955-14111C>T) c.583C>T (p.Arg195Ter) c.954+34500C>T (n.954+34500C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.4376365G>C | CA351628303 | SUMF1 | c.979C>G (p.Arg327Gly) c.904C>G (p.Arg302Gly) c.955-14111C>G (n.955-14111C>G) c.583C>G (p.Arg195Gly) c.954+34500C>G (n.954+34500C>G) | dbSNP |