| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7565478C>G | CA007826 | DSP | c.897C>G (p.Ser299Arg) n.221C>G n.415C>G | ClinVar dbSNP |
| 6 | g.7565478C>T | CA007833 | DSP | c.897C>T (p.Ser299=) n.221C>T n.415C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7565478C= | CA1608617357 | DSP | c.897C= (p.Ser299=) n.221C= n.415C= | dbSNP |
| 6 | g.7565478C>A | CA362674567 | DSP | c.897C>A (p.Ser299Arg) n.221C>A n.415C>A | ClinVar dbSNP |