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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
2
g.70872776C=
CA1259764295
2
g.70872776C>G
CA1259764296
dbSNP
2
g.70872778C=
CA1259764300
2
g.70872778C>G
CA533229878
dbSNP
gnomAD v2
2
g.70872778_70872780delinsCTT
CA1259764299
2
g.70872780_70872781del
CA533229882
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
2
g.70872781T>C
CA2699624949
dbSNP
2
g.70872787C>A
CA533229884
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
2
g.70872787C=
CA1259764304
2
g.70872788C=
CA1259764306
2
g.70872788C>T
CA1259764307
dbSNP
2
g.70872789A=
CA1259764309
2
g.70872789A>G
CA892639960
dbSNP
gnomAD v3
gnomAD v4
2
g.70872794G=
CA1259764315
2
g.70872794G>T
CA49690011
dbSNP
gnomAD v3
gnomAD v4
2
g.70872798_70872799delinsAC
CA1259764317
2
g.70872799del
CA1259764320
dbSNP
2
g.70872799C>A
CA49690015
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
2
g.70872799C=
CA1259764321
2
g.70872799C>G
CA1259764323
dbSNP
2
g.70872801T>A
CA1259764326
dbSNP
2
g.70872801T=
CA1259764324
2
g.70872810T>C
CA1259764331
dbSNP
2
g.70872810T=
CA1259764330
2
g.70872813A=
CA1259764333
2
g.70872813A>T
CA1032022009
dbSNP
gnomAD v3
gnomAD v4
2
g.70872816A=
CA1259764334
2
g.70872816A>G
CA1259764336
dbSNP
2
g.70872818C>A
CA892639963
dbSNP
2
g.70872818C=
CA1259764338
2
g.70872818C>T
CA1259764340
dbSNP
2
g.70872819C=
CA1259764343
2
g.70872819C>T
CA1259764342
dbSNP
gnomAD v3
gnomAD v4
2
g.70872822T>C
CA49690016
dbSNP
2
g.70872822T=
CA1259764346
2
g.70872831T>A
CA892639970
dbSNP
gnomAD v3
gnomAD v4
2
g.70872831T=
CA1259764348
2
g.70872835A>C
CA2600174772
dbSNP
gnomAD v3
gnomAD v4
2
g.70872838G>T
CA2569884687
2
g.70872841T>C
CA49690017
dbSNP
gnomAD v3
gnomAD v4
2
g.70872841T=
CA1259764350
2
g.70872843G=
CA1259764353
2
g.70872843G>T
CA892639981
dbSNP
2
g.70872844C=
CA1259764354
2
g.70872844C>G
CA2699392101
dbSNP
2
g.70872844C>T
CA49690021
dbSNP
gnomAD v3
gnomAD v4
2
g.70872847G=
CA1259764356
2
g.70872847G>T
CA1259764357
dbSNP
2
g.70872858A=
CA1259764358
2
g.70872858A>T
CA1259764359
dbSNP
Number of alleles fetched
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