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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
1
g.53978117C>A
CA1001844043
dbSNP
gnomAD v3
gnomAD v4
1
g.53978117C=
CA1167524365
1
g.53978118T>C
CA736903081
dbSNP
gnomAD v3
gnomAD v4
1
g.53978118T=
CA1167524366
1
g.53978120T>C
CA2743655331
1
g.53978121G>C
CA22679153
dbSNP
1
g.53978121G=
CA1167524367
1
g.53978121G>T
CA1167524368
dbSNP
1
g.53978125A=
CA1167524369
1
g.53978125A>G
CA736903089
dbSNP
gnomAD v3
gnomAD v4
1
g.53978136_53978139delinsCCCT
CA1167524370
1
g.53978137C>T
CA2543248660
1
g.53978139_53978141del
CA916178773
dbSNP
1
g.53978138C>A
CA736903096
dbSNP
gnomAD v3
gnomAD v4
1
g.53978138C=
CA1167524371
1
g.53978138C>T
CA1001844048
dbSNP
1
g.53978140C=
CA1167524372
1
g.53978140C>G
CA1167524373
dbSNP
1
g.53978140C>T
CA736903100
dbSNP
gnomAD v3
gnomAD v4
1
g.53978147A=
CA1167524374
1
g.53978147A>G
CA22679156
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
1
g.53978148T>C
CA22679161
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
1
g.53978148T=
CA1167524375
1
g.53978149G=
CA1167524376
1
g.53978149G>T
CA1167524377
dbSNP
1
g.53978152A=
CA1167524378
1
g.53978152A>T
CA22679163
dbSNP
gnomAD v3
gnomAD v4
1
g.53978153G>A
CA22679167
dbSNP
1
g.53978153G=
CA1167524379
1
g.53978158C>A
CA22679170
dbSNP
1
g.53978158C=
CA1167524380
1
g.53978160A=
CA1167524381
1
g.53978160A>G
CA522926238
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
1
g.53978166T>A
CA22679175
dbSNP
1
g.53978166T>C
CA22679196
dbSNP
gnomAD v3
gnomAD v4
1
g.53978166T=
CA1142473623
1
g.53978168G>C
CA1001844056
dbSNP
gnomAD v3
gnomAD v4
1
g.53978168G=
CA1167524382
1
g.53978170G>A
CA2695880296
dbSNP
1
g.53978172A=
CA1167524383
1
g.53978172A>G
CA22679199
dbSNP
gnomAD v3
gnomAD v4
1
g.53978173T>G
CA22679223
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
1
g.53978173T=
CA1142782452
1
g.53978175_53978176del
CA2539230208
1
g.53978176_53978181delinsTAAGAG
CA1167524384
1
g.53978179_53978183del
CA1167524385
dbSNP
1
g.53978186G>A
CA22679245
dbSNP
gnomAD v3
gnomAD v4
1
g.53978186G>C
CA2743655332
1
g.53978186G=
CA1167524386
1
g.53978192T>A
CA2581667427
1
g.53978192T>C
CA22679254
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
1
g.53978192T>G
CA2581667426
1
g.53978192T=
CA1141382835
1
g.53978193C=
CA1167524387
1
g.53978193C>T
CA1167524388
dbSNP
1
g.53978196del
CA2743655333
1
g.53978194C=
CA1140245795
1
g.53978194C>T
CA22679255
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
1
g.53978197_53978200delinsTGAA
CA1167524389
1
g.53978198G>A
CA22679258
dbSNP
1
g.53978198G=
CA1167524390
1
g.53978205_53978207dup
CA22679260
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
1
g.53978205_53978207del
CA22679264
dbSNP
1
g.53978199A>G
CA2516740746
1
g.53978206_53978207delinsAG
CA1167524391
1
g.53978208del
CA736903128
dbSNP
gnomAD v3
gnomAD v4
1
g.53978208G=
CA1167524392
1
g.53978208G>T
CA522926246
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
1
g.53978210A=
CA1167524393
1
g.53978210A>G
CA1167524394
dbSNP
1
g.53978212T>A
CA736903155
dbSNP
1
g.53978212T=
CA1167524395
1
g.53978214T>C
CA736903159
dbSNP
gnomAD v3
gnomAD v4
1
g.53978214T=
CA1167524396
1
g.53978215G=
CA1167524397
1
g.53978216C=
CA1167524398
1
g.53978216C>T
CA22679267
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
1
g.53978217dup
CA522926248
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
1
g.53978217C=
CA1167524399
1
g.53978217C>T
CA22679273
dbSNP
gnomAD v3
gnomAD v4
Number of alleles fetched
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