| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7579995C>A | CA3628097 | DSP | c.3805C>A (p.Arg1269=) c.3582+223C>A (n.3582+223C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7579995C>G | CA362684892 | DSP | c.3805C>G (p.Arg1269Gly) c.3582+223C>G (n.3582+223C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7579995C>T | CA004265 | DSP | c.3805C>T (p.Arg1269Ter) c.3582+223C>T (n.3582+223C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7579995C= | CA1608615486 | DSP | c.3805C= (p.Arg1269=) c.3582+223C= (n.3582+223C=) | dbSNP |