Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.32879021G>ACA011947PKP2c.235C>T (p.Arg79Ter)
c.189C>T
n.239C>T
n.88C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.32879021G=CA2026352603PKP2c.235C= (p.Arg79=)
c.189C=
n.239C=
n.88C=
dbSNP
12g.32879021G>CCA384366669PKP2c.235C>G (p.Arg79Gly)
c.189C>G
n.239C>G
n.88C>G
dbSNP

Number of alleles fetched