Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.44823064G>CCA417561202PTCH2c.3357+5C>G (n.3357+5C>G)
c.118+5C>G
dbSNP
1g.44823064G>ACA117975PTCH2c.3357+5C>T (n.3357+5C>T)
c.118+5C>T
ClinVar dbSNP
1g.44823064G>TCA417561209PTCH2c.3357+5C>A (n.3357+5C>A)
c.118+5C>A
dbSNP gnomAD v4

Number of alleles fetched