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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
X
g.39449590_39449593dup
CA875246506
dbSNP
gnomAD v3
gnomAD v4
X
g.39449590_39449592delinsCTG
CA2425233752
X
g.39449594_39449595del
CA640927265
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.39449594G>A
CA875246513
dbSNP
gnomAD v3
gnomAD v4
X
g.39449594G=
CA2425233753
X
g.39449595T>C
CA1132480213
dbSNP
gnomAD v3
gnomAD v4
X
g.39449595T=
CA2425233754
X
g.39449601G>C
CA2425233756
dbSNP
X
g.39449601G=
CA2425233755
X
g.39449605C=
CA2425233757
X
g.39449605C>T
CA2425233758
dbSNP
X
g.39449608A=
CA2425233759
X
g.39449608A>G
CA875246521
dbSNP
gnomAD v3
gnomAD v4
X
g.39449609T>C
CA2425233761
dbSNP
X
g.39449609T=
CA2425233760
X
g.39449613T>G
CA2425233763
dbSNP
X
g.39449613T=
CA2425233762
X
g.39449614T>G
CA328440041
dbSNP
X
g.39449614T=
CA2425233764
X
g.39449615G>A
CA2552798673
X
g.39449617G>A
CA2542684310
X
g.39449620T>G
CA328440042
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.39449620T=
CA2425233765
X
g.39449621C=
CA2425233766
X
g.39449621C>T
CA1132480218
dbSNP
gnomAD v3
gnomAD v4
X
g.39449626G=
CA2425233767
X
g.39449626G>T
CA1132480219
dbSNP
gnomAD v3
gnomAD v4
X
g.39449628G>A
CA1132480244
gnomAD v3
gnomAD v4
X
g.39449630G>A
CA2425233769
dbSNP
X
g.39449630G=
CA2425233768
X
g.39449631T>A
CA875246533
dbSNP
X
g.39449631T>C
CA2425233771
dbSNP
X
g.39449631T=
CA2425233770
X
g.39449636del
CA2738496321
dbSNP
X
g.39449645T>A
CA875246546
dbSNP
X
g.39449645T=
CA2425233772
X
g.39449649G=
CA2425233773
X
g.39449649G>T
CA875246548
dbSNP
gnomAD v3
gnomAD v4
X
g.39449650C=
CA2425233774
X
g.39449650C>G
CA2536078690
X
g.39449650C>T
CA875246552
dbSNP
gnomAD v3
gnomAD v4
X
g.39449651C>A
CA1132480250
dbSNP
gnomAD v3
gnomAD v4
X
g.39449651C=
CA2425233775
X
g.39449666T>G
CA328440043
dbSNP
X
g.39449666T=
CA2425233776
X
g.39449668T>C
CA2425233778
dbSNP
X
g.39449668T=
CA2425233777
X
g.39449675_39449676delinsTA
CA2425233779
X
g.39449677del
CA328440044
dbSNP
X
g.39449679G>A
CA2820517686
Number of alleles fetched
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