Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.207472977G>TCA423139067CR2c.1407G>T (p.Leu469=)
c.1396G>T
c.1776G>T (p.Leu592=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.207472977G>ACA1368807CR2c.1407G>A (p.Leu469=)
c.1396G>A
c.1776G>A (p.Leu592=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched