Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.169767711C>ACA59574596KLHL23,PTCHD3P2n.1087+2G>T
c.830-5609C>A (n.830-5609C>A)
c.46-8730C>A
dbSNP gnomAD v3 gnomAD v4
2g.169767711C>GCA1306599578KLHL23,PTCHD3P2n.1087+2G>C
c.830-5609C>G (n.830-5609C>G)
c.46-8730C>G
dbSNP gnomAD v4
2g.169767711C>TCA11037072KLHL23,PTCHD3P2n.1087+2G>A
c.830-5609C>T (n.830-5609C>T)
c.46-8730C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched