Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.52055593A>GCA450419955PKHD1c.1830T>C (p.Tyr610=)
c.1119T>C (p.Tyr373=)
c.1755T>C (p.Tyr585=)
c.-59T>C (n.-59T>C)
n.2106T>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.52055593A>TCA274378PKHD1c.1830T>A (p.Tyr610Ter)
c.1119T>A (p.Tyr373Ter)
c.1755T>A (p.Tyr585Ter)
c.-59T>A (n.-59T>A)
n.2106T>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched