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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
18
g.49001488_49001502delinsTGCCTCTCCTCCAGG
CA2302009998
18
g.49001493_49001506del
CA2302009999
dbSNP
gnomAD v3
gnomAD v4
18
g.49001493C=
CA2302010000
18
g.49001493C>T
CA300346748
dbSNP
18
g.49001495C=
CA2302010001
18
g.49001495C>T
CA779991149
dbSNP
gnomAD v3
gnomAD v4
18
g.49001496C>A
CA779991154
dbSNP
gnomAD v3
gnomAD v4
18
g.49001496C=
CA2302010002
18
g.49001498C=
CA2302010003
18
g.49001498C>G
CA779991164
dbSNP
18
g.49001500A=
CA2302010004
18
g.49001500A>G
CA2302010005
dbSNP
18
g.49001502G>A
CA2812423616
18
g.49001504C=
CA2302010006
18
g.49001504C>T
CA300346749
dbSNP
18
g.49001505C=
CA2302010007
18
g.49001505C>T
CA779991185
dbSNP
gnomAD v3
gnomAD v4
18
g.49001508C=
CA2302010008
18
g.49001508C>T
CA2302010009
dbSNP
gnomAD v3
gnomAD v4
18
g.49001511C=
CA2302010011
18
g.49001511C>T
CA779991192
dbSNP
18
g.49001511_49001513delinsCGT
CA2302010010
18
g.49001512G>A
CA300346751
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.49001512G>C
CA300346752
dbSNP
18
g.49001512G=
CA2302010012
18
g.49001518_49001519dup
CA300346750
dbSNP
18
g.49001518_49001519del
CA779991197
dbSNP
18
g.49001513T>C
CA990116118
dbSNP
gnomAD v3
gnomAD v4
18
g.49001513T=
CA2302010013
18
g.49001527G>A
CA779991202
dbSNP
gnomAD v3
gnomAD v4
18
g.49001527G=
CA2302010014
18
g.49001531C=
CA2302010015
18
g.49001531C>T
CA629840031
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.49001533G>A
CA779991210
dbSNP
gnomAD v3
gnomAD v4
18
g.49001533G=
CA2302010016
18
g.49001539T>A
CA2302010018
dbSNP
18
g.49001539T>C
CA2302010019
dbSNP
18
g.49001539T>G
CA14517003
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.49001539T=
CA2302010017
18
g.49001543C=
CA2302010020
18
g.49001543C>T
CA779991220
dbSNP
18
g.49001544C=
CA2302010021
18
g.49001545dup
CA2302010022
dbSNP
18
g.49001546C=
CA2302010024
18
g.49001546C>T
CA2302010023
dbSNP
18
g.49001548G>T
CA2812423617
18
g.49001552C=
CA2302010025
18
g.49001552C>T
CA2302010026
dbSNP
18
g.49001553C=
CA2302010027
18
g.49001553C>T
CA300346753
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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