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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
17
g.18122113G>A
CA398587395
MYO15A
c.3313G>A (p.Glu1105Lys)
n.2946G>A
n.3972G>A
n.4011G>A
dbSNP
17
g.18122113G>T
CA254020
MYO15A
c.3313G>T (p.Glu1105Ter)
n.2946G>T
n.3972G>T
n.4011G>T
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
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