Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.57041441C>ACA254322MYO1Ac.1155G>T (p.Glu385Asp)
c.669G>T (p.Glu223Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57041441C>TCA480234389MYO1Ac.1155G>A (p.Glu385=)
c.669G>A (p.Glu223=)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched