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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
18
g.50036982A>G
CA300406936
MYO5B
c.120T>C
n.694T>C
c.323T>C (p.Val108Ala)
c.320T>C (p.Val107Ala)
dbSNP
gnomAD v3
gnomAD v4
18
g.50036982A>C
CA116742
MYO5B
c.120T>G
n.694T>G
c.323T>G (p.Val108Gly)
c.320T>G (p.Val107Gly)
ClinVar
dbSNP
Number of alleles fetched
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