Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.70600460G>CCA16605904PALD1,PRF1c.*17+1376G>C (n.*17+1376G>C)
c.2250+35941G>C (n.2250+35941G>C)
n.2919+1376G>C
n.2763+1376G>C
c.443C>G (p.Ala148Gly)
n.97+2185C>G
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.70600460G>TCA5539034PALD1,PRF1c.*17+1376G>T (n.*17+1376G>T)
c.2250+35941G>T (n.2250+35941G>T)
n.2919+1376G>T
n.2763+1376G>T
c.443C>A (p.Ala148Asp)
n.97+2185C>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched