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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.57043335C>T
CA136016
MYO1A
c.916G>A (p.Val306Met)
c.4G>A (p.Val2Met)
c.430G>A (p.Val144Met)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
12
g.57043335C=
CA2038693841
MYO1A
c.916G= (p.Val306=)
c.4G= (p.Val2=)
c.430G= (p.Val144=)
dbSNP
Number of alleles fetched
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