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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
12
g.5047221_5047222delinsCA
CA2013432016
12
g.5047222del
CA944247972
dbSNP
gnomAD v3
gnomAD v4
12
g.5047227T>C
CA2013432018
dbSNP
12
g.5047227T=
CA2013432017
12
g.5047229G>C
CA2013432019
dbSNP
12
g.5047229G=
CA2013432020
12
g.5047231A>G
CA2794382147
12
g.5047232G>A
CA689648456
dbSNP
gnomAD v3
gnomAD v4
12
g.5047232G=
CA2013432021
12
g.5047232_5047233delinsGC
CA2013432022
12
g.5047233C>A
CA2013432025
dbSNP
12
g.5047233C=
CA2013432024
12
g.5047236del
CA2013432023
dbSNP
12
g.5047236C=
CA2013432026
12
g.5047236C>T
CA231870222
dbSNP
gnomAD v3
gnomAD v4
12
g.5047238G>A
CA689648460
dbSNP
12
g.5047238G>C
CA2013432027
dbSNP
12
g.5047238G=
CA2013432028
12
g.5047239T>G
CA2013432029
dbSNP
12
g.5047239T=
CA2013432030
12
g.5047240G>A
CA2013432032
dbSNP
12
g.5047240G=
CA2013432031
12
g.5047241T=
CA2013432033
12
g.5047242G>A
CA689648465
dbSNP
gnomAD v3
gnomAD v4
12
g.5047242G=
CA2013432034
12
g.5047243_5047244dup
CA231870227
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
12
g.5047243C>A
CA2013432036
dbSNP
12
g.5047243C=
CA2013432035
12
g.5047243C>T
CA231870232
dbSNP
gnomAD v3
gnomAD v4
12
g.5047244G>A
CA231870240
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
12
g.5047244G=
CA2013432037
12
g.5047246G>A
CA2013432039
dbSNP
12
g.5047246G=
CA2013432038
12
g.5047248C=
CA2013432040
12
g.5047248C>T
CA2013432041
dbSNP
12
g.5047249A=
CA2013432042
12
g.5047249A>G
CA944247981
dbSNP
gnomAD v3
gnomAD v4
12
g.5047252G>A
CA2013432044
dbSNP
12
g.5047252G>C
CA944247983
dbSNP
gnomAD v3
gnomAD v4
12
g.5047252G=
CA2013432043
12
g.5047260T>C
CA689648476
dbSNP
gnomAD v3
gnomAD v4
12
g.5047260T=
CA2013432045
12
g.5047261G=
CA2013432046
12
g.5047261G>T
CA689648479
dbSNP
gnomAD v3
gnomAD v4
12
g.5047262C>A
CA2590847971
dbSNP
gnomAD v3
gnomAD v4
12
g.5047263A=
CA2013432048
12
g.5047263A>G
CA944247989
dbSNP
gnomAD v3
gnomAD v4
12
g.5047263A>T
CA2013432047
dbSNP
gnomAD v3
gnomAD v4
12
g.5047264C=
CA2013432049
12
g.5047264C>G
CA944247993
dbSNP
gnomAD v3
gnomAD v4
12
g.5047264C>T
CA689648482
dbSNP
12
g.5047265C>A
CA2794382148
12
g.5047265C=
CA2013432050
12
g.5047265C>G
CA231870244
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
12
g.5047265C>T
CA944247995
dbSNP
gnomAD v3
gnomAD v4
12
g.5047266G>A
CA231870255
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
12
g.5047266G=
CA2013432051
12
g.5047267G>A
CA2013432053
dbSNP
12
g.5047267G=
CA2013432052
12
g.5047267G>T
CA231870256
dbSNP
gnomAD v3
gnomAD v4
12
g.5047269T>G
CA2013432055
dbSNP
12
g.5047269T=
CA2013432054
12
g.5047275C=
CA2013432056
12
g.5047275C>T
CA689648492
dbSNP
gnomAD v3
gnomAD v4
12
g.5047279C=
CA2013432057
12
g.5047279C>T
CA231870257
dbSNP
gnomAD v3
gnomAD v4
12
g.5047280C=
CA2013432058
12
g.5047280C>T
CA689648494
dbSNP
12
g.5047286G>A
CA2013432060
dbSNP
12
g.5047286G=
CA2013432059
12
g.5047292C=
CA2013432061
12
g.5047292C>T
CA944248000
dbSNP
gnomAD v3
gnomAD v4
12
g.5047294G>A
CA689648495
dbSNP
gnomAD v3
gnomAD v4
12
g.5047294G>C
CA944248001
dbSNP
12
g.5047294G=
CA2013432062
12
g.5047296G>A
CA231870258
dbSNP
gnomAD v3
gnomAD v4
12
g.5047296G=
CA2013432063
12
g.5047298A=
CA2013432064
12
g.5047298A>C
CA2013432065
dbSNP
12
g.5047299G>A
CA231870260
dbSNP
gnomAD v3
gnomAD v4
12
g.5047299G=
CA2013432066
12
g.5047299G>T
CA689648505
dbSNP
gnomAD v3
gnomAD v4
12
g.5047303G>A
CA603072953
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
12
g.5047303G=
CA2013432067
12
g.5047304_5047305delinsTA
CA2013432068
12
g.5047305A=
CA2013432069
12
g.5047305A>C
CA603072955
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
12
g.5047305A>G
CA944248015
dbSNP
gnomAD v3
gnomAD v4
12
g.5047306del
CA689648510
dbSNP
12
g.5047315T>A
CA2725576141
dbSNP
12
g.5047317G>A
CA231870262
dbSNP
12
g.5047317G=
CA2013432070
12
g.5047320A=
CA2013432071
12
g.5047320A>G
CA231870263
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
12
g.5047321C=
CA2013432073
12
g.5047321C>G
CA689648516
dbSNP
gnomAD v3
gnomAD v4
12
g.5047321C>T
CA2013432072
dbSNP
Number of alleles fetched
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