SNP Links for Gene (Select 102724814) - SNP

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Select item 14914287811.

rs1491428781 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 14:23562757 (GRCh38)
14:24031967 (GRCh37)
Canonical SPDI:: NC_000014.9:23562757:G:GG
Gene:: AP1G2 (Varview), AP1G2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000009/1 (GnomAD)
HGVS:: NC_000014.9:g.23562758dup, NC_000014.8:g.24031967dup, NG_011937.1:g.10313dup

Select item 14911805912.

rs1491180591 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 14:23562363 (GRCh38)
14:24031573 (GRCh37)
Canonical SPDI:: NC_000014.9:23562363:T:TT
Gene:: AP1G2 (Varview), AP1G2-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000038/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
T=0.00008/1 (GoESP)
HGVS:: NC_000014.9:g.23562364dup, NC_000014.8:g.24031573dup, NG_011937.1:g.10707dup, NM_003917.5:c.1552dup, NM_003917.4:c.1552dup, NM_003917.3:c.1552dup, NM_003917.2:c.1552dup, NR_148937.2:n.2341dup, NR_148937.1:n.2063dup, NM_001354677.2:c.409dup, NM_001354677.1:c.409dup, NM_001354681.2:c.409dup, NM_001354681.1:c.409dup, NR_148938.2:n.1867dup, NR_148938.1:n.1864dup, NM_001282475.2:c.1336dup, NM_001282475.1:c.1336dup, NM_001282474.2:c.409dup, NM_001282474.1:c.409dup, NM_001354674.2:c.409dup, NM_001354674.1:c.409dup, NM_001354675.2:c.409dup, NM_001354675.1:c.409dup, NM_001354673.2:c.1165dup, NM_001354673.1:c.1165dup, XM_005268168.6:c.1723dup, XM_005268168.5:c.1723dup, XM_005268168.4:c.1723dup, XM_005268168.3:c.1723dup, XM_005268168.2:c.1723dup, XM_005268168.1:c.1723dup, XM_005268169.4:c.1723dup, XM_005268169.3:c.1723dup, XM_005268169.2:c.1723dup, XM_005268169.1:c.1723dup, XM_011537283.4:c.1825dup, XM_011537283.3:c.1723dup, XM_011537283.2:c.1723dup, XM_011537283.1:c.1723dup, XM_006720301.4:c.1723dup, XM_006720301.3:c.1723dup, XM_006720301.2:c.1723dup, XM_006720301.1:c.1723dup, XM_005268172.4:c.1552dup, XM_005268172.3:c.1552dup, XM_005268172.2:c.1552dup, XM_005268172.1:c.1552dup, XM_005268167.4:c.1723dup, XM_005268167.3:c.1723dup, XM_005268167.2:c.1723dup, XM_005268167.1:c.1723dup, XM_005268170.4:c.1723dup, XM_005268170.3:c.1723dup, XM_005268170.2:c.1723dup, XM_005268170.1:c.1723dup, XM_005268173.4:c.1552dup, XM_005268173.3:c.1552dup, XM_005268173.2:c.1552dup, XM_005268173.1:c.1552dup, NM_080545.1:c.1552dup, XM_047431849.1:c.1825dup, XM_047431854.1:c.1552dup, XM_047431853.1:c.1723dup, XM_047431850.1:c.1654dup, XM_047431852.1:c.1723dup, XM_047431856.1:c.1654dup, XM_047431855.1:c.1552dup, XM_047431851.1:c.1723dup, XM_047431858.1:c.1552dup, XM_047431866.1:c.1582dup, XM_047431857.1:c.1552dup, XM_047431859.1:c.1552dup, XM_047431860.1:c.1825dup, XM_047431861.1:c.1825dup, XM_047431863.1:c.922dup, NP_003908.1:p.Met518fs, NP_001341606.1:p.Met137fs, NP_001341610.1:p.Met137fs, NP_001269404.1:p.Met446fs, NP_001269403.1:p.Met137fs, NP_001341603.1:p.Met137fs, NP_001341604.1:p.Met137fs, NP_001341602.1:p.Met389fs, XP_005268225.1:p.Met575fs, XP_005268226.1:p.Met575fs, XP_011535585.2:p.Met609fs, XP_006720364.1:p.Met575fs, XP_005268229.1:p.Met518fs, XP_005268224.1:p.Met575fs, XP_005268227.1:p.Met575fs, XP_005268230.1:p.Met518fs, XP_047287805.1:p.Met609fs, XP_047287810.1:p.Met518fs, XP_047287809.1:p.Met575fs, XP_047287806.1:p.Met552fs, XP_047287808.1:p.Met575fs, XP_047287812.1:p.Met552fs, XP_047287811.1:p.Met518fs, XP_047287807.1:p.Met575fs, XP_047287814.1:p.Met518fs, XP_047287822.1:p.Met528fs, XP_047287813.1:p.Met518fs, XP_047287815.1:p.Met518fs, XP_047287816.1:p.Met609fs, XP_047287817.1:p.Met609fs, XP_047287819.1:p.Met308fs

Select item 14911748793.

rs1491174879 has merged into rs59524126 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 14:23560791 (GRCh38)
14:24030000 (GRCh37)
Canonical SPDI:: NC_000014.9:23560778:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:23560778:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:23560778:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:23560778:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:23560778:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:23560778:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:23560778:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:23560778:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:23560778:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:23560778:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:23560778:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:23560778:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:23560778:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:23560778:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:23560778:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:23560778:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:23560778:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:23560778:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:23560778:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:23560778:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: AP1G2 (Varview), AP1G2-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000014.9:g.23560791_23560807del, NC_000014.9:g.23560792_23560807del, NC_000014.9:g.23560793_23560807del, NC_000014.9:g.23560794_23560807del, NC_000014.9:g.23560795_23560807del, NC_000014.9:g.23560796_23560807del, NC_000014.9:g.23560797_23560807del, NC_000014.9:g.23560798_23560807del, NC_000014.9:g.23560799_23560807del, NC_000014.9:g.23560800_23560807del, NC_000014.9:g.23560801_23560807del, NC_000014.9:g.23560802_23560807del, NC_000014.9:g.23560803_23560807del, NC_000014.9:g.23560804_23560807del, NC_000014.9:g.23560805_23560807del, NC_000014.9:g.23560806_23560807del, NC_000014.9:g.23560807del, NC_000014.9:g.23560807dup, NC_000014.9:g.23560806_23560807dup, NC_000014.9:g.23560805_23560807dup, NC_000014.8:g.24030000_24030016del, NC_000014.8:g.24030001_24030016del, NC_000014.8:g.24030002_24030016del, NC_000014.8:g.24030003_24030016del, NC_000014.8:g.24030004_24030016del, NC_000014.8:g.24030005_24030016del, NC_000014.8:g.24030006_24030016del, NC_000014.8:g.24030007_24030016del, NC_000014.8:g.24030008_24030016del, NC_000014.8:g.24030009_24030016del, NC_000014.8:g.24030010_24030016del, NC_000014.8:g.24030011_24030016del, NC_000014.8:g.24030012_24030016del, NC_000014.8:g.24030013_24030016del, NC_000014.8:g.24030014_24030016del, NC_000014.8:g.24030015_24030016del, NC_000014.8:g.24030016del, NC_000014.8:g.24030016dup, NC_000014.8:g.24030015_24030016dup, NC_000014.8:g.24030014_24030016dup, NG_011937.1:g.12276_12292del, NG_011937.1:g.12277_12292del, NG_011937.1:g.12278_12292del, NG_011937.1:g.12279_12292del, NG_011937.1:g.12280_12292del, NG_011937.1:g.12281_12292del, NG_011937.1:g.12282_12292del, NG_011937.1:g.12283_12292del, NG_011937.1:g.12284_12292del, NG_011937.1:g.12285_12292del, NG_011937.1:g.12286_12292del, NG_011937.1:g.12287_12292del, NG_011937.1:g.12288_12292del, NG_011937.1:g.12289_12292del, NG_011937.1:g.12290_12292del, NG_011937.1:g.12291_12292del, NG_011937.1:g.12292del, NG_011937.1:g.12292dup, NG_011937.1:g.12291_12292dup, NG_011937.1:g.12290_12292dup

Select item 14911464024.

rs1491146402 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:23560778 (GRCh38)
14:24029987 (GRCh37)
Canonical SPDI:: NC_000014.9:23560777:CA:
Gene:: AP1G2 (Varview), AP1G2-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
-=0.00114/26 (TOMMO)
HGVS:: NC_000014.9:g.23560778_23560779del, NC_000014.8:g.24029987_24029988del, NG_011937.1:g.12292_12293del

Select item 14907857945.

rs1490785794 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:23559699 (GRCh38)
14:24028908 (GRCh37)
Canonical SPDI:: NC_000014.9:23559698:C:T
Gene:: AP1G2 (Varview), THTPA (Varview), AP1G2-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant
HGVS:: NC_000014.9:g.23559699C>T, NC_000014.8:g.24028908C>T, NG_011937.1:g.13372G>A, NM_003917.5:c.*50G>A, NM_003917.4:c.*50G>A, NM_003917.3:c.*50G>A, NM_003917.2:c.*50G>A, NR_148937.2:n.3197G>A, NR_148937.1:n.2919G>A, NM_001354677.2:c.*50G>A, NM_001354677.1:c.*50G>A, NM_001354681.2:c.*50G>A, NM_001354681.1:c.*50G>A, NR_148938.2:n.2723G>A, NR_148938.1:n.2720G>A, NM_001282475.2:c.*50G>A, NM_001282475.1:c.*50G>A, NM_001282474.2:c.*50G>A, NM_001282474.1:c.*50G>A, NM_001354674.2:c.*50G>A, NM_001354674.1:c.*50G>A, NM_001354675.2:c.*50G>A, NM_001354675.1:c.*50G>A, NM_001354673.2:c.*50G>A, NM_001354673.1:c.*50G>A, XM_005268168.6:c.*50G>A, XM_005268168.5:c.*50G>A, XM_005268168.4:c.*50G>A, XM_005268168.3:c.*50G>A, XM_005268168.2:c.*50G>A, XM_005268168.1:c.*50G>A, NM_024328.6:c.*859C>T, XM_005268169.4:c.*50G>A, XM_005268169.3:c.*50G>A, XM_005268169.2:c.*50G>A, XM_005268169.1:c.*50G>A, XM_011537283.4:c.*50G>A, XM_011537283.3:c.*50G>A, XM_011537283.2:c.*50G>A, XM_011537283.1:c.*50G>A, XM_006720301.4:c.*50G>A, XM_006720301.3:c.*50G>A, XM_006720301.2:c.*50G>A, XM_006720301.1:c.*50G>A, XM_005268172.4:c.*50G>A, XM_005268172.3:c.*50G>A, XM_005268172.2:c.*50G>A, XM_005268172.1:c.*50G>A, XM_005268167.4:c.*50G>A, XM_005268167.3:c.*50G>A, XM_005268167.2:c.*50G>A, XM_005268167.1:c.*50G>A, XM_005268170.4:c.*50G>A, XM_005268170.3:c.*50G>A, XM_005268170.2:c.*50G>A, XM_005268170.1:c.*50G>A, XM_005268173.4:c.*50G>A, XM_005268173.3:c.*50G>A, XM_005268173.2:c.*50G>A, XM_005268173.1:c.*50G>A, NM_080545.1:c.*50G>A, XM_047431849.1:c.*50G>A, XM_047431854.1:c.*50G>A, XM_047431853.1:c.*50G>A, XM_047431850.1:c.*50G>A, XM_047431852.1:c.*50G>A, XM_047431856.1:c.*50G>A, XM_047431855.1:c.*50G>A, XM_047431851.1:c.*50G>A, XM_047431858.1:c.*50G>A, XM_047431857.1:c.*50G>A, XM_047431859.1:c.*50G>A, XM_047431863.1:c.*50G>A

Select item 14904256086.

rs1490425608 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:23568242 (GRCh38)
14:24037451 (GRCh37)
Canonical SPDI:: NC_000014.9:23568241:G:C
Gene:: AP1G2 (Varview), JPH4 (Varview), AP1G2-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.23568242G>C, NC_000014.8:g.24037451G>C, NG_011937.1:g.4829C>G, NM_032452.3:c.*1392C>G, NM_032452.2:c.*1392C>G, NM_001146028.2:c.*1392C>G, NM_001146028.1:c.*1392C>G

Select item 14899247877.

rs1489924787 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:23564238 (GRCh38)
14:24033447 (GRCh37)
Canonical SPDI:: NC_000014.9:23564237:G:A
Gene:: AP1G2 (Varview), AP1G2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.23564238G>A, NC_000014.8:g.24033447G>A, NG_011937.1:g.8833C>T

Select item 14894396338.

rs1489439633 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 14:23562463 (GRCh38)
14:24031672 (GRCh37)
Canonical SPDI:: NC_000014.9:23562462:CT:
Gene:: AP1G2 (Varview), AP1G2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.23562463_23562464del, NC_000014.8:g.24031672_24031673del, NG_011937.1:g.10607_10608del

Select item 14893456249.

rs1489345624 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:23566899 (GRCh38)
14:24036108 (GRCh37)
Canonical SPDI:: NC_000014.9:23566898:C:G
Gene:: AP1G2 (Varview), AP1G2-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.23566899C>G, NC_000014.8:g.24036108C>G, NG_011937.1:g.6172G>C, NR_110555.1:n.2335C>G, XM_047431866.1:c.-292G>C

Select item 148861813010.

rs1488618130 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:23566681 (GRCh38)
14:24035890 (GRCh37)
Canonical SPDI:: NC_000014.9:23566680:C:G,NC_000014.9:23566680:C:T
Gene:: AP1G2 (Varview), AP1G2-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000071/1 (TOMMO)
HGVS:: NC_000014.9:g.23566681C>G, NC_000014.9:g.23566681C>T, NC_000014.8:g.24035890C>G, NC_000014.8:g.24035890C>T, NG_011937.1:g.6390G>C, NG_011937.1:g.6390G>A, NM_003917.5:c.210G>C, NM_003917.5:c.210G>A, NM_003917.4:c.210G>C, NM_003917.4:c.210G>A, NM_003917.3:c.210G>C, NM_003917.3:c.210G>A, NM_003917.2:c.210G>C, NM_003917.2:c.210G>A, NR_148937.2:n.556G>C, NR_148937.2:n.556G>A, NR_148937.1:n.278G>C, NR_148937.1:n.278G>A, NM_001354681.2:c.-919G>C, NM_001354681.2:c.-919G>A, NM_001354681.1:c.-919G>C, NM_001354681.1:c.-919G>A, NR_148938.2:n.268G>C, NR_148938.2:n.268G>A, NR_148938.1:n.265G>C, NR_148938.1:n.265G>A, XM_005268168.6:c.210G>C, XM_005268168.6:c.210G>A, XM_005268168.5:c.210G>C, XM_005268168.5:c.210G>A, XM_005268168.4:c.210G>C, XM_005268168.4:c.210G>A, XM_005268168.3:c.210G>C, XM_005268168.3:c.210G>A, XM_005268168.2:c.210G>C, XM_005268168.2:c.210G>A, XM_005268168.1:c.210G>C, XM_005268168.1:c.210G>A, XM_005268169.4:c.210G>C, XM_005268169.4:c.210G>A, XM_005268169.3:c.210G>C, XM_005268169.3:c.210G>A, XM_005268169.2:c.210G>C, XM_005268169.2:c.210G>A, XM_005268169.1:c.210G>C, XM_005268169.1:c.210G>A, XM_011537283.4:c.312G>C, XM_011537283.4:c.312G>A, XM_011537283.3:c.210G>C, XM_011537283.3:c.210G>A, XM_011537283.2:c.210G>C, XM_011537283.2:c.210G>A, XM_011537283.1:c.210G>C, XM_011537283.1:c.210G>A, XM_006720301.4:c.210G>C, XM_006720301.4:c.210G>A, XM_006720301.3:c.210G>C, XM_006720301.3:c.210G>A, XM_006720301.2:c.210G>C, XM_006720301.2:c.210G>A, XM_006720301.1:c.210G>C, XM_006720301.1:c.210G>A, XM_005268172.4:c.210G>C, XM_005268172.4:c.210G>A, XM_005268172.3:c.210G>C, XM_005268172.3:c.210G>A, XM_005268172.2:c.210G>C, XM_005268172.2:c.210G>A, XM_005268172.1:c.210G>C, XM_005268172.1:c.210G>A, XM_005268167.4:c.210G>C, XM_005268167.4:c.210G>A, XM_005268167.3:c.210G>C, XM_005268167.3:c.210G>A, XM_005268167.2:c.210G>C, XM_005268167.2:c.210G>A, XM_005268167.1:c.210G>C, XM_005268167.1:c.210G>A, XM_005268170.4:c.210G>C, XM_005268170.4:c.210G>A, XM_005268170.3:c.210G>C, XM_005268170.3:c.210G>A, XM_005268170.2:c.210G>C, XM_005268170.2:c.210G>A, XM_005268170.1:c.210G>C, XM_005268170.1:c.210G>A, XM_005268173.4:c.210G>C, XM_005268173.4:c.210G>A, XM_005268173.3:c.210G>C, XM_005268173.3:c.210G>A, XM_005268173.2:c.210G>C, XM_005268173.2:c.210G>A, XM_005268173.1:c.210G>C, XM_005268173.1:c.210G>A, NM_080545.1:c.210G>C, NM_080545.1:c.210G>A, NR_110555.1:n.2117C>G, NR_110555.1:n.2117C>T, XM_047431849.1:c.312G>C, XM_047431849.1:c.312G>A, XM_047431854.1:c.210G>C, XM_047431854.1:c.210G>A, XM_047431853.1:c.210G>C, XM_047431853.1:c.210G>A, XM_047431850.1:c.312G>C, XM_047431850.1:c.312G>A, XM_047431852.1:c.210G>C, XM_047431852.1:c.210G>A, XM_047431856.1:c.312G>C, XM_047431856.1:c.312G>A, XM_047431855.1:c.210G>C, XM_047431855.1:c.210G>A, XM_047431851.1:c.210G>C, XM_047431851.1:c.210G>A, XM_047431858.1:c.210G>C, XM_047431858.1:c.210G>A, XM_047431866.1:c.-74G>C, XM_047431866.1:c.-74G>A, XM_047431857.1:c.210G>C, XM_047431857.1:c.210G>A, XM_047431859.1:c.210G>C, XM_047431859.1:c.210G>A, XM_047431860.1:c.312G>C, XM_047431860.1:c.312G>A, XM_047431861.1:c.312G>C, XM_047431861.1:c.312G>A, XM_047431862.1:c.312G>C, XM_047431862.1:c.312G>A, XM_047431869.1:c.210G>C, XM_047431869.1:c.210G>A, XM_047431865.1:c.312G>C, XM_047431865.1:c.312G>A, XM_047431864.1:c.210G>C, XM_047431864.1:c.210G>A, XM_047431867.1:c.210G>C, XM_047431867.1:c.210G>A, XM_047431868.1:c.210G>C, XM_047431868.1:c.210G>A, XM_047431870.1:c.312G>C, XM_047431870.1:c.312G>A, NP_003908.1:p.Glu70Asp, XP_005268225.1:p.Glu70Asp, XP_005268226.1:p.Glu70Asp, XP_011535585.2:p.Glu104Asp, XP_006720364.1:p.Glu70Asp, XP_005268229.1:p.Glu70Asp, XP_005268224.1:p.Glu70Asp, XP_005268227.1:p.Glu70Asp, XP_005268230.1:p.Glu70Asp, XP_047287805.1:p.Glu104Asp, XP_047287810.1:p.Glu70Asp, XP_047287809.1:p.Glu70Asp, XP_047287806.1:p.Glu104Asp, XP_047287808.1:p.Glu70Asp, XP_047287812.1:p.Glu104Asp, XP_047287811.1:p.Glu70Asp, XP_047287807.1:p.Glu70Asp, XP_047287814.1:p.Glu70Asp, XP_047287813.1:p.Glu70Asp, XP_047287815.1:p.Glu70Asp, XP_047287816.1:p.Glu104Asp, XP_047287817.1:p.Glu104Asp, XP_047287818.1:p.Glu104Asp, XP_047287825.1:p.Glu70Asp, XP_047287821.1:p.Glu104Asp, XP_047287820.1:p.Glu70Asp, XP_047287823.1:p.Glu70Asp, XP_047287824.1:p.Glu70Asp, XP_047287826.1:p.Glu104Asp

Select item 148840404911.

rs1488404049 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:23560064 (GRCh38)
14:24029273 (GRCh37)
Canonical SPDI:: NC_000014.9:23560063:G:A
Gene:: AP1G2 (Varview), THTPA (Varview), AP1G2-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant
HGVS:: NC_000014.9:g.23560064G>A, NC_000014.8:g.24029273G>A, NG_011937.1:g.13007C>T, NM_024328.6:c.*1224G>A

Select item 148804106412.

rs1488041064 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:23565993 (GRCh38)
14:24035202 (GRCh37)
Canonical SPDI:: NC_000014.9:23565992:G:A
Gene:: AP1G2 (Varview), AP1G2-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.23565993G>A, NC_000014.8:g.24035202G>A, NG_011937.1:g.7078C>T, NR_148937.2:n.985C>T, NR_148937.1:n.707C>T, NM_001282475.2:c.252C>T, NM_001282475.1:c.252C>T, NM_001282474.2:c.-738C>T, NM_001282474.1:c.-738C>T, XM_005268168.6:c.639C>T, XM_005268168.5:c.639C>T, XM_005268168.4:c.639C>T, XM_005268168.3:c.639C>T, XM_005268168.2:c.639C>T, XM_005268168.1:c.639C>T, XM_005268169.4:c.639C>T, XM_005268169.3:c.639C>T, XM_005268169.2:c.639C>T, XM_005268169.1:c.639C>T, XM_011537283.4:c.741C>T, XM_011537283.3:c.639C>T, XM_011537283.2:c.639C>T, XM_011537283.1:c.639C>T, XM_006720301.4:c.639C>T, XM_006720301.3:c.639C>T, XM_006720301.2:c.639C>T, XM_006720301.1:c.639C>T, XM_005268167.4:c.639C>T, XM_005268167.3:c.639C>T, XM_005268167.2:c.639C>T, XM_005268167.1:c.639C>T, XM_005268170.4:c.639C>T, XM_005268170.3:c.639C>T, XM_005268170.2:c.639C>T, XM_005268170.1:c.639C>T, NR_110555.1:n.1429G>A, XM_047431849.1:c.741C>T, XM_047431853.1:c.639C>T, XM_047431852.1:c.639C>T, XM_047431851.1:c.639C>T, XM_047431866.1:c.498C>T, XM_047431860.1:c.741C>T, XM_047431861.1:c.741C>T, XM_047431862.1:c.741C>T, XM_047431864.1:c.639C>T, XM_047431870.1:c.741C>T

Select item 148774796813.

rs1487747968 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 14:23563256 (GRCh38)
14:24032466 (GRCh37)
Canonical SPDI:: NC_000014.9:23563256:TT:TTT
Gene:: AP1G2 (Varview), AP1G2-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.23563258dup, NC_000014.8:g.24032467dup, NG_011937.1:g.9814dup, NR_148937.2:n.2142dup, NR_148937.1:n.1864dup, NR_148938.2:n.1668dup, NR_148938.1:n.1665dup, XM_047431862.1:c.1709dup, XM_047431869.1:c.1436dup, XM_047431865.1:c.1538dup, XM_047431864.1:c.1607dup, XM_047431867.1:c.1436dup, XM_047431868.1:c.1436dup, XP_047287818.1:p.Thr571fs, XP_047287825.1:p.Thr480fs, XP_047287821.1:p.Thr514fs, XP_047287820.1:p.Thr537fs, XP_047287823.1:p.Thr480fs, XP_047287824.1:p.Thr480fs

Select item 148674780914.

rs1486747809 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:23559753 (GRCh38)
14:24028962 (GRCh37)
Canonical SPDI:: NC_000014.9:23559752:T:C
Gene:: AP1G2 (Varview), THTPA (Varview), AP1G2-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.23559753T>C, NC_000014.8:g.24028962T>C, NG_011937.1:g.13318A>G, NM_003917.5:c.2354A>G, NM_003917.4:c.2354A>G, NM_003917.3:c.2354A>G, NM_003917.2:c.2354A>G, NR_148937.2:n.3143A>G, NR_148937.1:n.2865A>G, NM_001354677.2:c.1211A>G, NM_001354677.1:c.1211A>G, NM_001354681.2:c.1211A>G, NM_001354681.1:c.1211A>G, NR_148938.2:n.2669A>G, NR_148938.1:n.2666A>G, NM_001282475.2:c.2138A>G, NM_001282475.1:c.2138A>G, NM_001282474.2:c.1211A>G, NM_001282474.1:c.1211A>G, NM_001354674.2:c.1211A>G, NM_001354674.1:c.1211A>G, NM_001354675.2:c.1211A>G, NM_001354675.1:c.1211A>G, NM_001354673.2:c.1967A>G, NM_001354673.1:c.1967A>G, XM_005268168.6:c.2525A>G, XM_005268168.5:c.2525A>G, XM_005268168.4:c.2525A>G, XM_005268168.3:c.2525A>G, XM_005268168.2:c.2525A>G, XM_005268168.1:c.2525A>G, NM_024328.6:c.*913T>C, XM_005268169.4:c.2525A>G, XM_005268169.3:c.2525A>G, XM_005268169.2:c.2525A>G, XM_005268169.1:c.2525A>G, XM_011537283.4:c.2522A>G, XM_011537283.3:c.2420A>G, XM_011537283.2:c.2420A>G, XM_011537283.1:c.2420A>G, XM_006720301.4:c.2525A>G, XM_006720301.3:c.2525A>G, XM_006720301.2:c.2525A>G, XM_006720301.1:c.2525A>G, XM_005268172.4:c.2354A>G, XM_005268172.3:c.2354A>G, XM_005268172.2:c.2354A>G, XM_005268172.1:c.2354A>G, XM_005268167.4:c.2525A>G, XM_005268167.3:c.2525A>G, XM_005268167.2:c.2525A>G, XM_005268167.1:c.2525A>G, XM_005268170.4:c.2525A>G, XM_005268170.3:c.2525A>G, XM_005268170.2:c.2525A>G, XM_005268170.1:c.2525A>G, XM_005268173.4:c.2354A>G, XM_005268173.3:c.2354A>G, XM_005268173.2:c.2354A>G, XM_005268173.1:c.2354A>G, NM_080545.1:c.2354A>G, XM_047431849.1:c.2627A>G, XM_047431854.1:c.2354A>G, XM_047431853.1:c.2420A>G, XM_047431850.1:c.2456A>G, XM_047431852.1:c.2420A>G, XM_047431856.1:c.2351A>G, XM_047431855.1:c.2354A>G, XM_047431851.1:c.2420A>G, XM_047431858.1:c.2249A>G, XM_047431857.1:c.2249A>G, XM_047431859.1:c.2249A>G, XM_047431863.1:c.1724A>G, NP_003908.1:p.Gln785Arg, NP_001341606.1:p.Gln404Arg, NP_001341610.1:p.Gln404Arg, NP_001269404.1:p.Gln713Arg, NP_001269403.1:p.Gln404Arg, NP_001341603.1:p.Gln404Arg, NP_001341604.1:p.Gln404Arg, NP_001341602.1:p.Gln656Arg, XP_005268225.1:p.Gln842Arg, XP_005268226.1:p.Gln842Arg, XP_011535585.2:p.Gln841Arg, XP_006720364.1:p.Gln842Arg, XP_005268229.1:p.Gln785Arg, XP_005268224.1:p.Gln842Arg, XP_005268227.1:p.Gln842Arg, XP_005268230.1:p.Gln785Arg, XP_047287805.1:p.Gln876Arg, XP_047287810.1:p.Gln785Arg, XP_047287809.1:p.Gln807Arg, XP_047287806.1:p.Gln819Arg, XP_047287808.1:p.Gln807Arg, XP_047287812.1:p.Gln784Arg, XP_047287811.1:p.Gln785Arg, XP_047287807.1:p.Gln807Arg, XP_047287814.1:p.Gln750Arg, XP_047287813.1:p.Gln750Arg, XP_047287815.1:p.Gln750Arg, XP_047287819.1:p.Gln575Arg

Select item 148664022715.

rs1486640227 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:23560072 (GRCh38)
14:24029281 (GRCh37)
Canonical SPDI:: NC_000014.9:23560071:G:A
Gene:: AP1G2 (Varview), THTPA (Varview), AP1G2-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.23560072G>A, NC_000014.8:g.24029281G>A, NG_011937.1:g.12999C>T, NM_024328.6:c.*1232G>A

Select item 148660967516.

rs1486609675 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:23561062 (GRCh38)
14:24030271 (GRCh37)
Canonical SPDI:: NC_000014.9:23561061:G:C
Gene:: AP1G2 (Varview), AP1G2-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.23561062G>C, NC_000014.8:g.24030271G>C, NG_011937.1:g.12009C>G

Select item 148645878217.

rs1486458782 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:23564648 (GRCh38)
14:24033857 (GRCh37)
Canonical SPDI:: NC_000014.9:23564647:T:C
Gene:: AP1G2 (Varview), AP1G2-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.23564648T>C, NC_000014.8:g.24033857T>C, NG_011937.1:g.8423A>G, NM_003917.5:c.835A>G, NM_003917.4:c.835A>G, NM_003917.3:c.835A>G, NM_003917.2:c.835A>G, NR_148937.2:n.1352A>G, NR_148937.1:n.1074A>G, NM_001354677.2:c.-498A>G, NM_001354677.1:c.-498A>G, NM_001354681.2:c.-371A>G, NM_001354681.1:c.-371A>G, NR_148938.2:n.816A>G, NR_148938.1:n.813A>G, NM_001282475.2:c.619A>G, NM_001282475.1:c.619A>G, NM_001282474.2:c.-371A>G, NM_001282474.1:c.-371A>G, NM_001354674.2:c.-371A>G, NM_001354674.1:c.-371A>G, NM_001354675.2:c.-560A>G, NM_001354675.1:c.-560A>G, NM_001354673.2:c.448A>G, NM_001354673.1:c.448A>G, XM_005268168.6:c.1006A>G, XM_005268168.5:c.1006A>G, XM_005268168.4:c.1006A>G, XM_005268168.3:c.1006A>G, XM_005268168.2:c.1006A>G, XM_005268168.1:c.1006A>G, XM_005268169.4:c.1006A>G, XM_005268169.3:c.1006A>G, XM_005268169.2:c.1006A>G, XM_005268169.1:c.1006A>G, XM_011537283.4:c.1108A>G, XM_011537283.3:c.1006A>G, XM_011537283.2:c.1006A>G, XM_011537283.1:c.1006A>G, XM_006720301.4:c.1006A>G, XM_006720301.3:c.1006A>G, XM_006720301.2:c.1006A>G, XM_006720301.1:c.1006A>G, XM_005268172.4:c.835A>G, XM_005268172.3:c.835A>G, XM_005268172.2:c.835A>G, XM_005268172.1:c.835A>G, XM_005268167.4:c.1006A>G, XM_005268167.3:c.1006A>G, XM_005268167.2:c.1006A>G, XM_005268167.1:c.1006A>G, XM_005268170.4:c.1006A>G, XM_005268170.3:c.1006A>G, XM_005268170.2:c.1006A>G, XM_005268170.1:c.1006A>G, XM_005268173.4:c.835A>G, XM_005268173.3:c.835A>G, XM_005268173.2:c.835A>G, XM_005268173.1:c.835A>G, NM_080545.1:c.835A>G, XM_047431849.1:c.1108A>G, XM_047431854.1:c.835A>G, XM_047431853.1:c.1006A>G, XM_047431850.1:c.937A>G, XM_047431852.1:c.1006A>G, XM_047431856.1:c.937A>G, XM_047431855.1:c.835A>G, XM_047431851.1:c.1006A>G, XM_047431858.1:c.835A>G, XM_047431866.1:c.865A>G, XM_047431857.1:c.835A>G, XM_047431859.1:c.835A>G, XM_047431860.1:c.1108A>G, XM_047431861.1:c.1108A>G, XM_047431862.1:c.1108A>G, XM_047431863.1:c.205A>G, XM_047431869.1:c.835A>G, XM_047431865.1:c.937A>G, XM_047431864.1:c.1006A>G, XM_047431867.1:c.835A>G, XM_047431868.1:c.835A>G, XM_047431870.1:c.1108A>G, NP_003908.1:p.Thr279Ala, NP_001269404.1:p.Thr207Ala, NP_001341602.1:p.Thr150Ala, XP_005268225.1:p.Thr336Ala, XP_005268226.1:p.Thr336Ala, XP_011535585.2:p.Thr370Ala, XP_006720364.1:p.Thr336Ala, XP_005268229.1:p.Thr279Ala, XP_005268224.1:p.Thr336Ala, XP_005268227.1:p.Thr336Ala, XP_005268230.1:p.Thr279Ala, XP_047287805.1:p.Thr370Ala, XP_047287810.1:p.Thr279Ala, XP_047287809.1:p.Thr336Ala, XP_047287806.1:p.Thr313Ala, XP_047287808.1:p.Thr336Ala, XP_047287812.1:p.Thr313Ala, XP_047287811.1:p.Thr279Ala, XP_047287807.1:p.Thr336Ala, XP_047287814.1:p.Thr279Ala, XP_047287822.1:p.Thr289Ala, XP_047287813.1:p.Thr279Ala, XP_047287815.1:p.Thr279Ala, XP_047287816.1:p.Thr370Ala, XP_047287817.1:p.Thr370Ala, XP_047287818.1:p.Thr370Ala, XP_047287819.1:p.Thr69Ala, XP_047287825.1:p.Thr279Ala, XP_047287821.1:p.Thr313Ala, XP_047287820.1:p.Thr336Ala, XP_047287823.1:p.Thr279Ala, XP_047287824.1:p.Thr279Ala, XP_047287826.1:p.Thr370Ala

Select item 148620529618.

rs1486205296 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 14:23560807 (GRCh38)
14:24030016 (GRCh37)
Canonical SPDI:: NC_000014.9:23560806:A:G,NC_000014.9:23560806:A:T
Gene:: AP1G2 (Varview), AP1G2-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000023/3 (GnomAD)
HGVS:: NC_000014.9:g.23560807A>G, NC_000014.9:g.23560807A>T, NC_000014.8:g.24030016A>G, NC_000014.8:g.24030016A>T, NG_011937.1:g.12264T>C, NG_011937.1:g.12264T>A

Select item 148615629419.

rs1486156294 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:23565277 (GRCh38)
14:24034486 (GRCh37)
Canonical SPDI:: NC_000014.9:23565276:A:G
Gene:: AP1G2 (Varview), AP1G2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.23565277A>G, NC_000014.8:g.24034486A>G, NG_011937.1:g.7794T>C

Select item 148596141520.

rs1485961415 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:23564367 (GRCh38)
14:24033576 (GRCh37)
Canonical SPDI:: NC_000014.9:23564366:C:G
Gene:: AP1G2 (Varview), AP1G2-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.23564367C>G, NC_000014.8:g.24033576C>G, NG_011937.1:g.8704G>C, NM_003917.5:c.943G>C, NM_003917.4:c.943G>C, NM_003917.3:c.943G>C, NM_003917.2:c.943G>C, NR_148937.2:n.1460G>C, NR_148937.1:n.1182G>C, NM_001354677.2:c.-390G>C, NM_001354677.1:c.-390G>C, NM_001354681.2:c.-263G>C, NM_001354681.1:c.-263G>C, NR_148938.2:n.924G>C, NR_148938.1:n.921G>C, NM_001282475.2:c.727G>C, NM_001282475.1:c.727G>C, NM_001282474.2:c.-263G>C, NM_001282474.1:c.-263G>C, NM_001354674.2:c.-263G>C, NM_001354674.1:c.-263G>C, NM_001354675.2:c.-452G>C, NM_001354675.1:c.-452G>C, NM_001354673.2:c.556G>C, NM_001354673.1:c.556G>C, XM_005268168.6:c.1114G>C, XM_005268168.5:c.1114G>C, XM_005268168.4:c.1114G>C, XM_005268168.3:c.1114G>C, XM_005268168.2:c.1114G>C, XM_005268168.1:c.1114G>C, XM_005268169.4:c.1114G>C, XM_005268169.3:c.1114G>C, XM_005268169.2:c.1114G>C, XM_005268169.1:c.1114G>C, XM_011537283.4:c.1216G>C, XM_011537283.3:c.1114G>C, XM_011537283.2:c.1114G>C, XM_011537283.1:c.1114G>C, XM_006720301.4:c.1114G>C, XM_006720301.3:c.1114G>C, XM_006720301.2:c.1114G>C, XM_006720301.1:c.1114G>C, XM_005268172.4:c.943G>C, XM_005268172.3:c.943G>C, XM_005268172.2:c.943G>C, XM_005268172.1:c.943G>C, XM_005268167.4:c.1114G>C, XM_005268167.3:c.1114G>C, XM_005268167.2:c.1114G>C, XM_005268167.1:c.1114G>C, XM_005268170.4:c.1114G>C, XM_005268170.3:c.1114G>C, XM_005268170.2:c.1114G>C, XM_005268170.1:c.1114G>C, XM_005268173.4:c.943G>C, XM_005268173.3:c.943G>C, XM_005268173.2:c.943G>C, XM_005268173.1:c.943G>C, NM_080545.1:c.943G>C, XM_047431849.1:c.1216G>C, XM_047431854.1:c.943G>C, XM_047431853.1:c.1114G>C, XM_047431850.1:c.1045G>C, XM_047431852.1:c.1114G>C, XM_047431856.1:c.1045G>C, XM_047431855.1:c.943G>C, XM_047431851.1:c.1114G>C, XM_047431858.1:c.943G>C, XM_047431866.1:c.973G>C, XM_047431857.1:c.943G>C, XM_047431859.1:c.943G>C, XM_047431860.1:c.1216G>C, XM_047431861.1:c.1216G>C, XM_047431862.1:c.1216G>C, XM_047431863.1:c.313G>C, XM_047431869.1:c.943G>C, XM_047431865.1:c.1045G>C, XM_047431864.1:c.1114G>C, XM_047431867.1:c.943G>C, XM_047431868.1:c.943G>C, XM_047431870.1:c.1216G>C, NP_003908.1:p.Gly315Arg, NP_001269404.1:p.Gly243Arg, NP_001341602.1:p.Gly186Arg, XP_005268225.1:p.Gly372Arg, XP_005268226.1:p.Gly372Arg, XP_011535585.2:p.Gly406Arg, XP_006720364.1:p.Gly372Arg, XP_005268229.1:p.Gly315Arg, XP_005268224.1:p.Gly372Arg, XP_005268227.1:p.Gly372Arg, XP_005268230.1:p.Gly315Arg, XP_047287805.1:p.Gly406Arg, XP_047287810.1:p.Gly315Arg, XP_047287809.1:p.Gly372Arg, XP_047287806.1:p.Gly349Arg, XP_047287808.1:p.Gly372Arg, XP_047287812.1:p.Gly349Arg, XP_047287811.1:p.Gly315Arg, XP_047287807.1:p.Gly372Arg, XP_047287814.1:p.Gly315Arg, XP_047287822.1:p.Gly325Arg, XP_047287813.1:p.Gly315Arg, XP_047287815.1:p.Gly315Arg, XP_047287816.1:p.Gly406Arg, XP_047287817.1:p.Gly406Arg, XP_047287818.1:p.Gly406Arg, XP_047287819.1:p.Gly105Arg, XP_047287825.1:p.Gly315Arg, XP_047287821.1:p.Gly349Arg, XP_047287820.1:p.Gly372Arg, XP_047287823.1:p.Gly315Arg, XP_047287824.1:p.Gly315Arg, XP_047287826.1:p.Gly406Arg

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