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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
14
g.54912115T>A
CA14030753
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54912115T=
CA2138244263
14
g.54912117T>C
CA2536574517
14
g.54912118G>A
CA2138244266
dbSNP
14
g.54912118G=
CA2138244265
14
g.54912119C>A
CA260533854
dbSNP
gnomAD v3
gnomAD v4
14
g.54912119C=
CA2138244267
14
g.54912121C=
CA2138244269
14
g.54912121C>T
CA963342817
dbSNP
gnomAD v3
gnomAD v4
14
g.54912122G>A
CA260533856
dbSNP
gnomAD v3
gnomAD v4
14
g.54912122G=
CA2138244271
14
g.54912123C=
CA2138244273
14
g.54912123C>G
CA260533859
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54912124C=
CA2138244275
14
g.54912124C>G
CA2138244276
dbSNP
14
g.54912127A>G
CA2525038203
14
g.54912128G=
CA2138244277
14
g.54912128G>T
CA2138244278
dbSNP
14
g.54912130C>A
CA2801652303
14
g.54912132C=
CA2138244279
14
g.54912132C>T
CA2138244281
dbSNP
14
g.54912134C=
CA2138244282
14
g.54912134C>G
CA260533861
dbSNP
gnomAD v3
gnomAD v4
14
g.54912135A=
CA2138244284
14
g.54912135A>C
CA706944143
dbSNP
14
g.54912135A>T
CA963342821
dbSNP
gnomAD v3
gnomAD v4
14
g.54912139T>G
CA2801652304
14
g.54912140G>A
CA2138244288
dbSNP
14
g.54912140G=
CA2138244286
14
g.54912140G>T
CA260533863
dbSNP
gnomAD v3
gnomAD v4
14
g.54912142A>T
CA2518396040
14
g.54912143G>C
CA614284071
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54912143G=
CA2138244290
14
g.54912148T>C
CA963342825
dbSNP
gnomAD v3
gnomAD v4
14
g.54912148T=
CA2138244292
14
g.54912150C=
CA2138244294
14
g.54912150C>T
CA260533865
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54912151G>A
CA2138244299
dbSNP
14
g.54912151G>C
CA614284073
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54912151G=
CA2138244297
14
g.54912158G=
CA2138244300
14
g.54912160_54912163dup
CA919422550
dbSNP
14
g.54912160T>C
CA2508667239
14
g.54912162_54912163insTG
CA2563478483
14
g.54912163C=
CA2138244303
14
g.54912163C>T
CA963342830
dbSNP
gnomAD v3
gnomAD v4
14
g.54912165_54912166insTCAGCAG
CA2505605473
14
g.54912166A>G
CA2499957099
14
g.54912167C>A
CA963342832
gnomAD v3
gnomAD v4
14
g.54912169T>C
CA14030754
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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