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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.78312469G>A
CA50945294
dbSNP
gnomAD v3
gnomAD v4
2
g.78312469G=
CA1263364962
2
g.78312471A=
CA1263364963
2
g.78312471A>G
CA1032536605
dbSNP
gnomAD v3
gnomAD v4
2
g.78312471A>T
CA893297988
dbSNP
2
g.78312475T>C
CA893297990
dbSNP
2
g.78312475T=
CA1263364964
2
g.78312480A=
CA1263364965
2
g.78312480A>G
CA50945295
dbSNP
gnomAD v3
gnomAD v4
2
g.78312481C=
CA1263364966
2
g.78312481C>T
CA50945296
dbSNP
2
g.78312482A=
CA1263364967
2
g.78312482A>C
CA1263364968
dbSNP
2
g.78312482A>G
CA1263364969
dbSNP
2
g.78312483T>G
CA893297995
dbSNP
2
g.78312483T=
CA1263364970
2
g.78312485G>A
CA893298001
dbSNP
gnomAD v3
gnomAD v4
2
g.78312485G=
CA1263364971
2
g.78312486C=
CA1263364972
2
g.78312486C>T
CA1263364973
dbSNP
2
g.78312487C>T
CA2750589578
2
g.78312492A=
CA1263364974
2
g.78312492A>G
CA1263364975
dbSNP
2
g.78312493T>C
CA1263364977
dbSNP
2
g.78312493T=
CA1263364976
2
g.78312494T>C
CA50945297
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
2
g.78312494T=
CA1263364978
2
g.78312497T>A
CA1032536609
dbSNP
gnomAD v3
gnomAD v4
2
g.78312497T=
CA1263364979
2
g.78312499C=
CA1263364980
2
g.78312499C>T
CA1032536611
dbSNP
gnomAD v3
gnomAD v4
2
g.78312499_78312503delinsCCTTA
CA1263364981
2
g.78312502_78312505del
CA1263364982
dbSNP
2
g.78312511G=
CA1263364983
2
g.78312511G>T
CA893298010
dbSNP
2
g.78312514G>A
CA1263364984
dbSNP
2
g.78312514G=
CA1263364985
2
g.78312515G>C
CA1032536612
dbSNP
gnomAD v3
gnomAD v4
2
g.78312515G=
CA1263364986
2
g.78312516C=
CA1263364987
2
g.78312516C>T
CA50945298
dbSNP
gnomAD v3
gnomAD v4
2
g.78312520A=
CA1263364988
2
g.78312520A>C
CA1263364989
dbSNP
2
g.78312522T>G
CA1263364991
dbSNP
2
g.78312522T=
CA1263364990
2
g.78312526A=
CA1263364992
2
g.78312526A>G
CA50945299
dbSNP
gnomAD v3
gnomAD v4
2
g.78312528T>A
CA533880275
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
2
g.78312528T=
CA1263364993
2
g.78312529A>G
CA2699544865
dbSNP
2
g.78312530A=
CA1263364994
2
g.78312530A>T
CA50945300
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
2
g.78312531T>C
CA1032536625
dbSNP
gnomAD v3
gnomAD v4
2
g.78312531T=
CA1263364995
2
g.78312536dup
CA533880278
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
2
g.78312532T>C
CA2750589579
2
g.78312539T>C
CA50945301
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
2
g.78312539T=
CA1263364996
2
g.78312540G>A
CA50945302
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
2
g.78312540G>C
CA2581850669
2
g.78312540G=
CA1263364997
2
g.78312540G>T
CA2581850670
2
g.78312545A=
CA1263364998
2
g.78312545A>C
CA1032536633
dbSNP
gnomAD v3
gnomAD v4
2
g.78312547T>C
CA50945303
dbSNP
2
g.78312547T=
CA1263364999
2
g.78312549T>G
CA2750589580
2
g.78312549_78312550delinsTG
CA1263365000
2
g.78312550del
CA1032536640
dbSNP
gnomAD v3
gnomAD v4
2
g.78312551T>G
CA893298021
dbSNP
gnomAD v3
gnomAD v4
2
g.78312551T=
CA1263365001
2
g.78312552G>A
CA893298028
dbSNP
gnomAD v3
gnomAD v4
2
g.78312552G=
CA1263365002
2
g.78312557C=
CA1263365003
2
g.78312557C>T
CA50945304
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
2
g.78312562A>G
CA2533182380
2
g.78312564G>T
CA2750589581
2
g.78312566G>A
CA50945305
dbSNP
gnomAD v3
gnomAD v4
2
g.78312566G=
CA1263365004
2
g.78312567_78312571delinsATGTT
CA1263365005
2
g.78312568T>C
CA50945307
dbSNP
2
g.78312568T=
CA1263365006
2
g.78312572_78312575del
CA50945306
dbSNP
gnomAD v3
gnomAD v4
2
g.78312569G>A
CA1032536648
dbSNP
gnomAD v3
gnomAD v4
2
g.78312569G=
CA1263365007
2
g.78312569G>T
CA893298041
dbSNP
gnomAD v3
gnomAD v4
Number of alleles fetched
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