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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
11
g.89284930G>C
CA6221409
TYR
c.1342G>C (p.Asp448His)
n.340G>C
n.2456+1104C>G
n.2457+1104C>G
dbSNP
ExAC
gnomAD v2
11
g.89284930G>A
CA227526
TYR
c.1342G>A (p.Asp448Asn)
n.340G>A
n.2456+1104C>T
n.2457+1104C>T
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
Number of alleles fetched
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