Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.127068982C>TCA119462BIN1c.461G>A (p.Arg154Gln)
c.389G>A (p.Arg130Gln)
c.380G>A (p.Arg127Gln)
ClinVar dbSNP gnomAD v4
2g.127068982C>ACA348367809BIN1c.461G>T (p.Arg154Leu)
c.389G>T (p.Arg130Leu)
c.380G>T (p.Arg127Leu)
dbSNP

Number of alleles fetched