Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.52302256A>C | CA217292 | KRT81,KRT86 | c.340A>C (p.Asn114His) c.571A>C (p.Asn191His) c.-211-612T>G (n.-211-612T>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.52302256A>G | CA118927 | KRT81,KRT86 | c.340A>G (p.Asn114Asp) c.571A>G (p.Asn191Asp) c.-211-612T>C (n.-211-612T>C) | ClinVar dbSNP |