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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
5
g.40486698G>A
CA444081501
5
g.40486699G>C
CA810617337
dbSNP
gnomAD v3
gnomAD v4
5
g.40486699G=
CA1541242160
5
g.40486702C>A
CA2527809843
5
g.40486704A=
CA1541242163
5
g.40486704A>G
CA117719029
dbSNP
gnomAD v3
gnomAD v4
5
g.40486710T>C
CA117719030
dbSNP
5
g.40486710T=
CA1541242165
5
g.40486711G>A
CA559260466
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
5
g.40486711G=
CA1541242168
5
g.40486713A=
CA1541242171
5
g.40486713A>G
CA1541242173
dbSNP
5
g.40486715A=
CA1541242176
5
g.40486715A>G
CA117719031
dbSNP
gnomAD v3
gnomAD v4
5
g.40486717A=
CA1541242179
5
g.40486717A>C
CA559260467
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
5
g.40486720C>A
CA2543227201
5
g.40486721A>G
CA2765999639
5
g.40486722C=
CA1541242185
5
g.40486722C>T
CA1075364792
dbSNP
gnomAD v3
gnomAD v4
5
g.40486726G>A
CA1541242200
dbSNP
5
g.40486726G>C
CA117719032
dbSNP
gnomAD v3
gnomAD v4
5
g.40486726G=
CA1541242197
5
g.40486727G>A
CA1075364794
dbSNP
gnomAD v3
gnomAD v4
5
g.40486727G=
CA1541242204
5
g.40486730C=
CA1541242209
5
g.40486730C>T
CA117719033
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
5
g.40486731A>G
CA2553013995
5
g.40486731_40486732delinsAT
CA1541242214
5
g.40486732del
CA810617347
dbSNP
5
g.40486732_40486733delinsTA
CA1541242225
5
g.40486737del
CA117719034
dbSNP
5
g.40486734A>T
CA2708960642
dbSNP
5
g.40486738T>C
CA559260468
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
5
g.40486738T=
CA1541242228
5
g.40486741A=
CA1541242229
5
g.40486741A>C
CA1541242231
dbSNP
5
g.40486741A>T
CA810617349
dbSNP
5
g.40486742A=
CA1541242241
5
g.40486742A>G
CA117719035
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
5
g.40486748C=
CA1541242242
5
g.40486748C>T
CA810617354
dbSNP
gnomAD v3
gnomAD v4
5
g.40486749A=
CA1541242244
5
g.40486749A>G
CA1541242243
dbSNP
5
g.40486754A=
CA1541242246
5
g.40486754A>G
CA1541242249
dbSNP
5
g.40486756A>G
CA2518657025
dbSNP
5
g.40486758G>C
CA2708960643
dbSNP
5
g.40486761G>A
CA1075364802
dbSNP
gnomAD v3
gnomAD v4
5
g.40486761G=
CA1541242252
5
g.40486762T>A
CA810617361
dbSNP
gnomAD v3
gnomAD v4
5
g.40486762T=
CA1541242258
5
g.40486767T>C
CA559260469
dbSNP
gnomAD v2
5
g.40486767T=
CA1541242264
5
g.40486769A=
CA1541242267
5
g.40486769A>C
CA117719036
dbSNP
5
g.40486770G>A
CA559260470
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
5
g.40486770G=
CA1541242278
5
g.40486772C>A
CA117719037
dbSNP
gnomAD v3
gnomAD v4
5
g.40486772C=
CA1541242281
5
g.40486773C>A
CA559260471
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
5
g.40486773C=
CA1541242286
5
g.40486776A=
CA1541242289
5
g.40486776A>T
CA117719038
dbSNP
gnomAD v3
gnomAD v4
5
g.40486782G=
CA1541242292
5
g.40486782G>T
CA1541242293
dbSNP
5
g.40486783G>A
CA117719039
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
5
g.40486783G=
CA1541242294
5
g.40486787del
CA2765999640
5
g.40486786T>C
CA810617377
dbSNP
gnomAD v3
gnomAD v4
5
g.40486786T=
CA1541242296
5
g.40486788G>C
CA117719040
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
5
g.40486788G=
CA1541242297
5
g.40486789A=
CA1541242299
5
g.40486789A>T
CA1075364811
dbSNP
gnomAD v3
gnomAD v4
5
g.40486793G>A
CA810617384
dbSNP
5
g.40486793G=
CA1541242302
5
g.40486793_40486796delinsGGCA
CA1541242304
5
g.40486793_40486804delinsGGCATCACCAAT
CA1541242306
5
g.40486794G>A
CA2580590404
5
g.40486794G>C
CA2580590405
5
g.40486794G=
CA1541242317
5
g.40486794G>T
CA15378528
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
5
g.40486794_40486796del
CA1075364813
dbSNP
gnomAD v3
gnomAD v4
5
g.40486801_40486811del
CA1541242313
dbSNP
Number of alleles fetched
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