| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7579989C>T | CA004255 | DSP | c.3799C>T (p.Arg1267Ter) c.3582+217C>T (n.3582+217C>T) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7579989C>G | CA362684882 | DSP | c.3799C>G (p.Arg1267Gly) c.3582+217C>G (n.3582+217C>G) | ClinVar dbSNP |
| 6 | g.7579989C= | CA1608615458 | DSP | c.3799C= (p.Arg1267=) c.3582+217C= (n.3582+217C=) | dbSNP |
| 6 | g.7579989C>A | CA448715065 | DSP | c.3799C>A (p.Arg1267=) c.3582+217C>A (n.3582+217C>A) | ClinVar dbSNP |