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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
22
g.50626935del
CA278424
ARSA
c.583del (p.Trp195GlyfsTer5)
c.325del (p.Trp109GlyfsTer5)
n.1087del
ClinVar
dbSNP
gnomAD v3
gnomAD v4
22
g.50626935A=
CA3244230472
ARSA
c.583T= (p.Trp195=)
c.325T= (p.Trp109=)
n.1087T=
dbSNP
dbSNP
Number of alleles fetched
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