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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
15
g.59231737C>T
CA392644967
MYO1E
c.475G>A (p.Ala159Thr)
c.*48G>A (n.*48G>A)
n.333G>A
dbSNP
gnomAD v2
gnomAD v4
15
g.59231737C>G
CA129010
MYO1E
c.475G>C (p.Ala159Pro)
c.*48G>C (n.*48G>C)
n.333G>C
ClinVar
dbSNP
Number of alleles fetched
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