Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.146018516A>GCA252253HJVc.842T>C (p.Ile281Thr)
c.164T>C (p.Ile55Thr)
c.503T>C (p.Ile168Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.146018516A=CA1140886750HJVc.842T= (p.Ile281=)
c.164T= (p.Ile55=)
c.503T= (p.Ile168=)
 dbSNP

Number of alleles fetched