Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.13718980G>CCA113919903DNAH5c.12401C>G (p.Ala4134Gly)
c.12356C>G (p.Ala4119Gly)
c.12509C>G (p.Ala4170Gly)
c.11414C>G (p.Ala3805Gly)
c.7598C>G (p.Ala2533Gly)
c.7151C>G (p.Ala2384Gly)
c.6488C>G (p.Ala2163Gly)
c.11003C>G (p.Ala3668Gly)
dbSNP
5g.13718980G>ACA182923DNAH5c.12401C>T (p.Ala4134Val)
c.12356C>T (p.Ala4119Val)
c.12509C>T (p.Ala4170Val)
c.11414C>T (p.Ala3805Val)
c.7598C>T (p.Ala2533Val)
c.7151C>T (p.Ala2384Val)
c.6488C>T (p.Ala2163Val)
c.11003C>T (p.Ala3668Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.13718980G>TCA113919905DNAH5c.12401C>A (p.Ala4134Asp)
c.12356C>A (p.Ala4119Asp)
c.12509C>A (p.Ala4170Asp)
c.11414C>A (p.Ala3805Asp)
c.7598C>A (p.Ala2533Asp)
c.7151C>A (p.Ala2384Asp)
c.6488C>A (p.Ala2163Asp)
c.11003C>A (p.Ala3668Asp)
dbSNP

Number of alleles fetched