| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31524554A>G | CA022263 | DSG2 | n.628A>G c.628A>G c.797A>G (p.Asn266Ser) c.263A>G (p.Asn88Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.31524554A= | CA2293857047 | DSG2 | n.628A= c.628A= c.797A= (p.Asn266=) c.263A= (p.Asn88=) | dbSNP |
| 18 | g.31524554A>T | CA402135204 | DSG2 | n.628A>T c.628A>T c.797A>T (p.Asn266Ile) c.263A>T (p.Asn88Ile) | dbSNP gnomAD v4 |