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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
6
g.7583062C>A
CA045761
DSP
c.4471C>A (p.Arg1491=)
c.5800C>A (p.Arg1934=)
c.4003C>A (p.Arg1335=)
dbSNP
ExAC
gnomAD v2
gnomAD v4
6
g.7583062C>T
CA006621
DSP
c.4471C>T (p.Arg1491Ter)
c.5800C>T (p.Arg1934Ter)
c.4003C>T (p.Arg1335Ter)
ClinVar
dbSNP
Number of alleles fetched
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