Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.57043335C>TCA136016MYO1Ac.916G>A (p.Val306Met)
c.4G>A (p.Val2Met)
c.430G>A (p.Val144Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57043335C=CA2038693841MYO1Ac.916G= (p.Val306=)
c.4G= (p.Val2=)
c.430G= (p.Val144=)
dbSNP

Number of alleles fetched