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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
4
g.125505377T>C
CA1067689590
dbSNP
gnomAD v3
gnomAD v4
4
g.125505377T=
CA1491679074
4
g.125505377_125505384del
CA2539645267
4
g.125505379T>C
CA786685829
dbSNP
gnomAD v3
gnomAD v4
4
g.125505379T=
CA1491679076
4
g.125505380G>A
CA554723194
dbSNP
gnomAD v2
4
g.125505380G=
CA1491679077
4
g.125505383T>C
CA1067689592
dbSNP
gnomAD v3
gnomAD v4
4
g.125505383T=
CA1491679078
4
g.125505385A=
CA1491679080
4
g.125505385A>G
CA104886623
dbSNP
4
g.125505387G>A
CA554723195
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
4
g.125505387G=
CA1491679081
4
g.125505387_125505390del
CA2511335482
4
g.125505388G>T
CA2763423536
4
g.125505397del
CA2707130974
dbSNP
4
g.125505400A=
CA1491679082
4
g.125505400A>C
CA786685839
dbSNP
gnomAD v3
gnomAD v4
4
g.125505400A>G
CA1491679084
dbSNP
4
g.125505401T>C
CA786685841
dbSNP
gnomAD v3
gnomAD v4
4
g.125505401T=
CA1491679085
4
g.125505404C=
CA1491679088
4
g.125505404C>G
CA1491679087
dbSNP
4
g.125505408G>C
CA786685843
dbSNP
gnomAD v3
gnomAD v4
4
g.125505408G=
CA1491679089
4
g.125505409T>G
CA104886626
dbSNP
gnomAD v2
4
g.125505409T=
CA1491679091
4
g.125505410T>A
CA1491679093
dbSNP
4
g.125505410T=
CA1491679092
4
g.125505413A=
CA1491679094
4
g.125505413A>G
CA104886629
dbSNP
4
g.125505414G>A
CA104886630
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
4
g.125505414G=
CA1491679096
4
g.125505415A=
CA1491679097
4
g.125505415A>C
CA786685846
dbSNP
gnomAD v3
gnomAD v4
4
g.125505418C>A
CA1491679101
dbSNP
4
g.125505418C=
CA1491679100
4
g.125505418C>G
CA1067689594
dbSNP
gnomAD v3
gnomAD v4
4
g.125505426T=
CA1491679102
4
g.125505427_125505428insGTTGTCTCTTAGTTGA
CA786685847
dbSNP
4
g.125505429_125505433delinsGACAT
CA1491679103
4
g.125505430_125505433del
CA786685849
dbSNP
4
g.125505431C=
CA1491679105
4
g.125505431C>T
CA104886631
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
4
g.125505433T>A
CA1491679107
dbSNP
4
g.125505433T=
CA1491679106
4
g.125505434C=
CA1491679109
4
g.125505434C>T
CA104886632
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
4
g.125505441G>A
CA1491679111
dbSNP
4
g.125505441G=
CA1491679110
4
g.125505443A=
CA1491679114
4
g.125505443A>C
CA554723201
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
4
g.125505443A>G
CA1491679113
dbSNP
4
g.125505443A>T
CA104886633
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
4
g.125505444G>A
CA104886636
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
4
g.125505444G=
CA1491679116
4
g.125505445T>C
CA786685860
dbSNP
gnomAD v3
gnomAD v4
4
g.125505445T=
CA1491679118
4
g.125505448C=
CA1491679119
4
g.125505448C>T
CA554723205
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
4
g.125505449T>G
CA2763423537
4
g.125505451C>A
CA2763423538
4
g.125505451C=
CA1491679121
4
g.125505451C>G
CA2561359783
4
g.125505451C>T
CA786685862
dbSNP
gnomAD v3
gnomAD v4
4
g.125505452A>T
CA2552808658
4
g.125505458_125505463delinsATACAT
CA1491679123
4
g.125505465_125505469del
CA917298160
dbSNP
4
g.125505461C=
CA1491679125
4
g.125505461C>T
CA786685869
dbSNP
gnomAD v3
gnomAD v4
4
g.125505463T>C
CA104886642
dbSNP
gnomAD v3
gnomAD v4
4
g.125505463T=
CA1491679126
4
g.125505468T>C
CA1491679129
dbSNP
4
g.125505468T=
CA1491679128
4
g.125505470T>C
CA2510595214
4
g.125505472C>A
CA2763423539
4
g.125505473C>T
CA2536722462
gnomAD v3
gnomAD v4
4
g.125505474T>C
CA1491679131
dbSNP
4
g.125505474T=
CA1491679130
Number of alleles fetched
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