| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7585276C>T | CA16618328 | DSP | c.6685C>T (p.Gln2229Ter) c.8014C>T (p.Gln2672Ter) c.6217C>T (p.Gln2073Ter) | ClinVar dbSNP |
| 6 | g.7585276C>G | CA362694257 | DSP | c.6685C>G (p.Gln2229Glu) c.8014C>G (p.Gln2672Glu) c.6217C>G (p.Gln2073Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |