Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.240788191G>ACA236139KIF1Ac.223C>T (p.Arg75Trp)
n.381C>T
n.374C>T
n.379C>T
c.246C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240788191G=CA1339291473KIF1Ac.223C= (p.Arg75=)
n.381C=
n.374C=
n.379C=
c.246C=
dbSNP

Number of alleles fetched