SNP Links for Protein (Select 1201080658) - SNP

Links from Protein

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Select item 14875028981.

rs1487502898 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:95300241 (GRCh38)
12:95694017 (GRCh37)
Canonical SPDI:: NC_000012.12:95300240:G:A
Gene:: VEZT (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000012.12:g.95300241G>A, NC_000012.11:g.95694017G>A, NG_028987.2:g.87496G>A, NM_017599.4:c.1908G>A, NM_017599.3:c.1908G>A, NM_001352117.2:c.*1125G>A, NM_001352117.1:c.*1125G>A, NR_147923.2:n.3478G>A, NR_147923.1:n.3539G>A, NM_001352116.2:c.*1125G>A, NM_001352116.1:c.*1125G>A, NM_001352113.2:c.*1125G>A, NM_001352113.1:c.*1125G>A, NM_001352100.2:c.*1125G>A, NM_001352100.1:c.*1125G>A, NR_147922.2:n.3062G>A, NR_147922.1:n.3123G>A, NM_001352109.2:c.*1125G>A, NM_001352109.1:c.*1125G>A, NR_147921.2:n.3031G>A, NR_147921.1:n.3092G>A, NM_001352111.2:c.*1125G>A, NM_001352111.1:c.*1125G>A, NM_001352112.2:c.*1125G>A, NM_001352112.1:c.*1125G>A, NM_001352115.2:c.*1125G>A, NM_001352115.1:c.*1125G>A, NM_001352119.2:c.*1125G>A, NM_001352119.1:c.*1125G>A, NR_147917.2:n.2676G>A, NR_147917.1:n.2737G>A, NM_001352092.2:c.1776G>A, NM_001352092.1:c.1776G>A, NM_001352096.2:c.1764G>A, NM_001352096.1:c.1764G>A, NM_001352107.2:c.1464G>A, NM_001352107.1:c.1464G>A, NR_147918.2:n.2188G>A, NR_147918.1:n.2249G>A, NM_001352118.2:c.*124G>A, NM_001352118.1:c.*124G>A, NM_001352095.2:c.1764G>A, NM_001352095.1:c.1764G>A, NM_001352094.2:c.1764G>A, NM_001352094.1:c.1764G>A, NM_001352102.2:c.1476G>A, NM_001352102.1:c.1476G>A, NM_001352106.2:c.1464G>A, NM_001352106.1:c.1464G>A, NM_001352108.2:c.*124G>A, NM_001352108.1:c.*124G>A, NM_001352093.2:c.1776G>A, NM_001352093.1:c.1776G>A, NM_001352110.2:c.*124G>A, NM_001352110.1:c.*124G>A, NR_147920.2:n.2033G>A, NR_147920.1:n.2094G>A, NR_038241.2:n.2025G>A, NR_038241.1:n.2086G>A, NR_147924.2:n.2021G>A, NR_147924.1:n.2082G>A, NM_001352104.2:c.1464G>A, NM_001352104.1:c.1464G>A, NM_001352088.2:c.1977G>A, NM_001352088.1:c.1977G>A, NM_001352103.2:c.1464G>A, NM_001352103.1:c.1464G>A, NM_001352089.2:c.1920G>A, NM_001352089.1:c.1920G>A, NR_147919.2:n.1960G>A, NR_147919.1:n.2021G>A, NR_038242.2:n.1960G>A, NR_038242.1:n.2021G>A, NR_147926.2:n.1948G>A, NR_147926.1:n.2009G>A, NM_001352091.2:c.1815G>A, NM_001352091.1:c.1815G>A, NM_001352097.2:c.1686G>A, NM_001352097.1:c.1686G>A, NM_001352090.2:c.1818G>A, NM_001352090.1:c.1818G>A, NM_001352099.2:c.1506G>A, NM_001352099.1:c.1506G>A, NM_001352101.2:c.1476G>A, NM_001352101.1:c.1476G>A, NR_147925.2:n.1694G>A, NR_147925.1:n.1755G>A, NM_001352105.2:c.1464G>A, NM_001352105.1:c.1464G>A, NM_001352098.2:c.1635G>A, NM_001352098.1:c.1635G>A, NM_001352114.2:c.1179G>A, NM_001352114.1:c.1179G>A, XM_006719483.5:c.1476G>A, XM_006719483.4:c.1476G>A, XM_006719483.3:c.1476G>A, XM_006719483.2:c.1476G>A, XM_006719483.1:c.1476G>A, XM_011538550.4:c.*1125G>A, XM_011538550.3:c.*1125G>A, XM_011538550.2:c.*1125G>A, XM_011538548.4:c.1641G>A, XM_011538548.3:c.1641G>A, XM_011538548.2:c.1641G>A, XM_011538548.1:c.1641G>A, XM_011538545.3:c.1887G>A, XM_011538545.2:c.1887G>A, XM_011538545.1:c.1887G>A, XM_006719478.3:c.1830G>A, XM_006719478.2:c.1830G>A, XM_006719478.1:c.1830G>A, XM_017019592.3:c.1629G>A, XM_017019592.2:c.1629G>A, XM_017019592.1:c.1629G>A, XM_024449043.2:c.1476G>A, XM_024449043.1:c.1476G>A, XM_011538549.2:c.*124G>A, XM_011538549.1:c.*124G>A, XM_024449042.2:c.*124G>A, XM_024449042.1:c.*124G>A, XM_011538544.2:c.1965G>A, XM_011538544.1:c.1965G>A, XM_017019586.2:c.1875G>A, XM_017019586.1:c.1875G>A, XM_047429116.1:c.*1125G>A, XM_047429112.1:c.*1125G>A, XM_047429113.1:c.*1125G>A, XM_047429108.1:c.1476G>A, XM_047429109.1:c.1476G>A, XM_047429115.1:c.1815G>A, XM_047429111.1:c.1464G>A, XM_047429110.1:c.1476G>A, XM_047429107.1:c.1476G>A, XM_047429106.1:c.1674G>A, NP_060069.3:p.Met636Ile, NP_001339021.1:p.Met592Ile, NP_001339025.1:p.Met588Ile, NP_001339036.1:p.Met488Ile, NP_001339024.1:p.Met588Ile, NP_001339023.1:p.Met588Ile, NP_001339031.1:p.Met492Ile, NP_001339035.1:p.Met488Ile, NP_001339022.1:p.Met592Ile, NP_001339033.1:p.Met488Ile, NP_001339017.1:p.Met659Ile, NP_001339032.1:p.Met488Ile, NP_001339018.1:p.Met640Ile, NP_001339020.1:p.Met605Ile, NP_001339026.1:p.Met562Ile, NP_001339019.1:p.Met606Ile, NP_001339028.1:p.Met502Ile, NP_001339030.1:p.Met492Ile, NP_001339034.1:p.Met488Ile, NP_001339027.1:p.Met545Ile, NP_001339043.1:p.Met393Ile, XP_006719546.1:p.Met492Ile, XP_011536850.1:p.Met547Ile, XP_011536847.1:p.Met629Ile, XP_006719541.1:p.Met610Ile, XP_016875081.1:p.Met543Ile, XP_024304811.1:p.Met492Ile, XP_011536846.1:p.Met655Ile, XP_016875075.1:p.Met625Ile, XP_047285064.1:p.Met492Ile, XP_047285065.1:p.Met492Ile, XP_047285071.1:p.Met605Ile, XP_047285067.1:p.Met488Ile, XP_047285066.1:p.Met492Ile, XP_047285063.1:p.Met492Ile, XP_047285062.1:p.Met558Ile

Select item 14863029922.

rs1486302992 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:95270136 (GRCh38)
12:95663912 (GRCh37)
Canonical SPDI:: NC_000012.12:95270135:C:T
Gene:: VEZT (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000012.12:g.95270136C>T, NC_000012.11:g.95663912C>T, NG_028987.2:g.57391C>T, NM_017599.4:c.796C>T, NM_017599.3:c.796C>T, NM_001352117.2:c.364C>T, NM_001352117.1:c.364C>T, NR_147923.2:n.1299C>T, NR_147923.1:n.1360C>T, NM_001352116.2:c.364C>T, NM_001352116.1:c.364C>T, NM_001352113.2:c.652C>T, NM_001352113.1:c.652C>T, NM_001352100.2:c.853C>T, NM_001352100.1:c.853C>T, NR_147922.2:n.883C>T, NR_147922.1:n.944C>T, NM_001352109.2:c.808C>T, NM_001352109.1:c.808C>T, NR_147921.2:n.852C>T, NR_147921.1:n.913C>T, NM_001352111.2:c.796C>T, NM_001352111.1:c.796C>T, NM_001352112.2:c.703C>T, NM_001352112.1:c.703C>T, NM_001352115.2:c.364C>T, NM_001352115.1:c.364C>T, NM_001352119.2:c.352C>T, NM_001352119.1:c.352C>T, NR_147917.2:n.1486C>T, NR_147917.1:n.1547C>T, NM_001352092.2:c.664C>T, NM_001352092.1:c.664C>T, NM_001352096.2:c.652C>T, NM_001352096.1:c.652C>T, NM_001352107.2:c.352C>T, NM_001352107.1:c.352C>T, NR_147918.2:n.1080C>T, NR_147918.1:n.1141C>T, NM_001352118.2:c.352C>T, NM_001352118.1:c.352C>T, NM_001352095.2:c.652C>T, NM_001352095.1:c.652C>T, NM_001352094.2:c.652C>T, NM_001352094.1:c.652C>T, NM_001352102.2:c.364C>T, NM_001352102.1:c.364C>T, NM_001352106.2:c.352C>T, NM_001352106.1:c.352C>T, NM_001352108.2:c.808C>T, NM_001352108.1:c.808C>T, NM_001352093.2:c.664C>T, NM_001352093.1:c.664C>T, NM_001352110.2:c.796C>T, NM_001352110.1:c.796C>T, NR_147920.2:n.925C>T, NR_147920.1:n.986C>T, NR_038241.2:n.913C>T, NR_038241.1:n.974C>T, NR_147924.2:n.913C>T, NR_147924.1:n.974C>T, NM_001352104.2:c.352C>T, NM_001352104.1:c.352C>T, NM_001352088.2:c.865C>T, NM_001352088.1:c.865C>T, NM_001352103.2:c.352C>T, NM_001352103.1:c.352C>T, NM_001352089.2:c.808C>T, NM_001352089.1:c.808C>T, NR_147919.2:n.852C>T, NR_147919.1:n.913C>T, NR_038242.2:n.848C>T, NR_038242.1:n.909C>T, NR_147926.2:n.840C>T, NR_147926.1:n.901C>T, NM_001352091.2:c.703C>T, NM_001352091.1:c.703C>T, NM_001352097.2:c.574C>T, NM_001352097.1:c.574C>T, NM_001352090.2:c.706C>T, NM_001352090.1:c.706C>T, NM_001352099.2:c.394C>T, NM_001352099.1:c.394C>T, NM_001352101.2:c.364C>T, NM_001352101.1:c.364C>T, NR_147925.2:n.586C>T, NR_147925.1:n.647C>T, NM_001352105.2:c.352C>T, NM_001352105.1:c.352C>T, NM_001352098.2:c.808C>T, NM_001352098.1:c.808C>T, NM_001352114.2:c.352C>T, NM_001352114.1:c.352C>T, XM_006719483.5:c.364C>T, XM_006719483.4:c.364C>T, XM_006719483.3:c.364C>T, XM_006719483.2:c.364C>T, XM_006719483.1:c.364C>T, XM_011538550.4:c.865C>T, XM_011538550.3:c.865C>T, XM_011538550.2:c.865C>T, XM_011538550.1:c.865C>T, XM_011538548.4:c.529C>T, XM_011538548.3:c.529C>T, XM_011538548.2:c.529C>T, XM_011538548.1:c.529C>T, XM_011538545.3:c.775C>T, XM_011538545.2:c.775C>T, XM_011538545.1:c.775C>T, XM_006719478.3:c.718C>T, XM_006719478.2:c.718C>T, XM_006719478.1:c.718C>T, XM_017019592.3:c.517C>T, XM_017019592.2:c.517C>T, XM_017019592.1:c.517C>T, XM_024449043.2:c.364C>T, XM_024449043.1:c.364C>T, XM_011538549.2:c.865C>T, XM_011538549.1:c.865C>T, XM_024449042.2:c.853C>T, XM_024449042.1:c.853C>T, XM_011538544.2:c.853C>T, XM_011538544.1:c.853C>T, XM_017019586.2:c.763C>T, XM_017019586.1:c.763C>T, XM_047429116.1:c.703C>T, XM_047429112.1:c.775C>T, XM_047429113.1:c.706C>T, XM_047429108.1:c.364C>T, XM_047429109.1:c.364C>T, XM_047429115.1:c.703C>T, XM_047429111.1:c.352C>T, XM_047429110.1:c.364C>T, XM_047429107.1:c.364C>T, XM_047429106.1:c.562C>T, XM_047429114.1:c.865C>T

Select item 14855952923.

rs1485595292 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:95270081 (GRCh38)
12:95663857 (GRCh37)
Canonical SPDI:: NC_000012.12:95270080:T:C
Gene:: VEZT (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.95270081T>C, NC_000012.11:g.95663857T>C, NG_028987.2:g.57336T>C, NM_017599.4:c.741T>C, NM_017599.3:c.741T>C, NM_001352117.2:c.309T>C, NM_001352117.1:c.309T>C, NR_147923.2:n.1244T>C, NR_147923.1:n.1305T>C, NM_001352116.2:c.309T>C, NM_001352116.1:c.309T>C, NM_001352113.2:c.597T>C, NM_001352113.1:c.597T>C, NM_001352100.2:c.798T>C, NM_001352100.1:c.798T>C, NR_147922.2:n.828T>C, NR_147922.1:n.889T>C, NM_001352109.2:c.753T>C, NM_001352109.1:c.753T>C, NR_147921.2:n.797T>C, NR_147921.1:n.858T>C, NM_001352111.2:c.741T>C, NM_001352111.1:c.741T>C, NM_001352112.2:c.648T>C, NM_001352112.1:c.648T>C, NM_001352115.2:c.309T>C, NM_001352115.1:c.309T>C, NM_001352119.2:c.297T>C, NM_001352119.1:c.297T>C, NR_147917.2:n.1431T>C, NR_147917.1:n.1492T>C, NM_001352092.2:c.609T>C, NM_001352092.1:c.609T>C, NM_001352096.2:c.597T>C, NM_001352096.1:c.597T>C, NM_001352107.2:c.297T>C, NM_001352107.1:c.297T>C, NR_147918.2:n.1025T>C, NR_147918.1:n.1086T>C, NM_001352118.2:c.297T>C, NM_001352118.1:c.297T>C, NM_001352095.2:c.597T>C, NM_001352095.1:c.597T>C, NM_001352094.2:c.597T>C, NM_001352094.1:c.597T>C, NM_001352102.2:c.309T>C, NM_001352102.1:c.309T>C, NM_001352106.2:c.297T>C, NM_001352106.1:c.297T>C, NM_001352108.2:c.753T>C, NM_001352108.1:c.753T>C, NM_001352093.2:c.609T>C, NM_001352093.1:c.609T>C, NM_001352110.2:c.741T>C, NM_001352110.1:c.741T>C, NR_147920.2:n.870T>C, NR_147920.1:n.931T>C, NR_038241.2:n.858T>C, NR_038241.1:n.919T>C, NR_147924.2:n.858T>C, NR_147924.1:n.919T>C, NM_001352104.2:c.297T>C, NM_001352104.1:c.297T>C, NM_001352088.2:c.810T>C, NM_001352088.1:c.810T>C, NM_001352103.2:c.297T>C, NM_001352103.1:c.297T>C, NM_001352089.2:c.753T>C, NM_001352089.1:c.753T>C, NR_147919.2:n.797T>C, NR_147919.1:n.858T>C, NR_038242.2:n.793T>C, NR_038242.1:n.854T>C, NR_147926.2:n.785T>C, NR_147926.1:n.846T>C, NM_001352091.2:c.648T>C, NM_001352091.1:c.648T>C, NM_001352097.2:c.519T>C, NM_001352097.1:c.519T>C, NM_001352090.2:c.651T>C, NM_001352090.1:c.651T>C, NM_001352099.2:c.339T>C, NM_001352099.1:c.339T>C, NM_001352101.2:c.309T>C, NM_001352101.1:c.309T>C, NR_147925.2:n.531T>C, NR_147925.1:n.592T>C, NM_001352105.2:c.297T>C, NM_001352105.1:c.297T>C, NM_001352098.2:c.753T>C, NM_001352098.1:c.753T>C, NM_001352114.2:c.297T>C, NM_001352114.1:c.297T>C, XM_006719483.5:c.309T>C, XM_006719483.4:c.309T>C, XM_006719483.3:c.309T>C, XM_006719483.2:c.309T>C, XM_006719483.1:c.309T>C, XM_011538550.4:c.810T>C, XM_011538550.3:c.810T>C, XM_011538550.2:c.810T>C, XM_011538550.1:c.810T>C, XM_011538548.4:c.474T>C, XM_011538548.3:c.474T>C, XM_011538548.2:c.474T>C, XM_011538548.1:c.474T>C, XM_011538545.3:c.720T>C, XM_011538545.2:c.720T>C, XM_011538545.1:c.720T>C, XM_006719478.3:c.663T>C, XM_006719478.2:c.663T>C, XM_006719478.1:c.663T>C, XM_017019592.3:c.462T>C, XM_017019592.2:c.462T>C, XM_017019592.1:c.462T>C, XM_024449043.2:c.309T>C, XM_024449043.1:c.309T>C, XM_011538549.2:c.810T>C, XM_011538549.1:c.810T>C, XM_024449042.2:c.798T>C, XM_024449042.1:c.798T>C, XM_011538544.2:c.798T>C, XM_011538544.1:c.798T>C, XM_017019586.2:c.708T>C, XM_017019586.1:c.708T>C, XM_047429116.1:c.648T>C, XM_047429112.1:c.720T>C, XM_047429113.1:c.651T>C, XM_047429108.1:c.309T>C, XM_047429109.1:c.309T>C, XM_047429115.1:c.648T>C, XM_047429111.1:c.297T>C, XM_047429110.1:c.309T>C, XM_047429107.1:c.309T>C, XM_047429106.1:c.507T>C, XM_047429114.1:c.810T>C

Select item 14847461224.

rs1484746122 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:95282552 (GRCh38)
12:95676328 (GRCh37)
Canonical SPDI:: NC_000012.12:95282551:T:C
Gene:: VEZT (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.95282552T>C, NC_000012.11:g.95676328T>C, NG_028987.2:g.69807T>C, NM_017599.4:c.1236T>C, NM_017599.3:c.1236T>C, NM_001352117.2:c.804T>C, NM_001352117.1:c.804T>C, NR_147923.2:n.1735T>C, NR_147923.1:n.1796T>C, NM_001352116.2:c.804T>C, NM_001352116.1:c.804T>C, NM_001352113.2:c.1092T>C, NM_001352113.1:c.1092T>C, NM_001352100.2:c.1293T>C, NM_001352100.1:c.1293T>C, NR_147922.2:n.1319T>C, NR_147922.1:n.1380T>C, NM_001352109.2:c.1248T>C, NM_001352109.1:c.1248T>C, NR_147921.2:n.1288T>C, NR_147921.1:n.1349T>C, NM_001352111.2:c.1236T>C, NM_001352111.1:c.1236T>C, NM_001352112.2:c.1143T>C, NM_001352112.1:c.1143T>C, NM_001352115.2:c.804T>C, NM_001352115.1:c.804T>C, NM_001352119.2:c.792T>C, NM_001352119.1:c.792T>C, NR_147917.2:n.1922T>C, NR_147917.1:n.1983T>C, NM_001352092.2:c.1104T>C, NM_001352092.1:c.1104T>C, NM_001352096.2:c.1092T>C, NM_001352096.1:c.1092T>C, NM_001352107.2:c.792T>C, NM_001352107.1:c.792T>C, NR_147918.2:n.1516T>C, NR_147918.1:n.1577T>C, NM_001352118.2:c.792T>C, NM_001352118.1:c.792T>C, NM_001352095.2:c.1092T>C, NM_001352095.1:c.1092T>C, NM_001352094.2:c.1092T>C, NM_001352094.1:c.1092T>C, NM_001352102.2:c.804T>C, NM_001352102.1:c.804T>C, NM_001352106.2:c.792T>C, NM_001352106.1:c.792T>C, NM_001352108.2:c.1248T>C, NM_001352108.1:c.1248T>C, NM_001352093.2:c.1104T>C, NM_001352093.1:c.1104T>C, NM_001352110.2:c.1236T>C, NM_001352110.1:c.1236T>C, NR_147920.2:n.1361T>C, NR_147920.1:n.1422T>C, NR_038241.2:n.1353T>C, NR_038241.1:n.1414T>C, NR_147924.2:n.1349T>C, NR_147924.1:n.1410T>C, NM_001352104.2:c.792T>C, NM_001352104.1:c.792T>C, NM_001352088.2:c.1305T>C, NM_001352088.1:c.1305T>C, NM_001352103.2:c.792T>C, NM_001352103.1:c.792T>C, NM_001352089.2:c.1248T>C, NM_001352089.1:c.1248T>C, NR_147919.2:n.1288T>C, NR_147919.1:n.1349T>C, NR_038242.2:n.1288T>C, NR_038242.1:n.1349T>C, NR_147926.2:n.1276T>C, NR_147926.1:n.1337T>C, NM_001352091.2:c.1143T>C, NM_001352091.1:c.1143T>C, NM_001352097.2:c.1014T>C, NM_001352097.1:c.1014T>C, NM_001352090.2:c.1146T>C, NM_001352090.1:c.1146T>C, NM_001352099.2:c.834T>C, NM_001352099.1:c.834T>C, NM_001352101.2:c.804T>C, NM_001352101.1:c.804T>C, NR_147925.2:n.1022T>C, NR_147925.1:n.1083T>C, NM_001352105.2:c.792T>C, NM_001352105.1:c.792T>C, XM_006719483.5:c.804T>C, XM_006719483.4:c.804T>C, XM_006719483.3:c.804T>C, XM_006719483.2:c.804T>C, XM_006719483.1:c.804T>C, XM_011538550.4:c.1305T>C, XM_011538550.3:c.1305T>C, XM_011538550.2:c.1305T>C, XM_011538550.1:c.1305T>C, XM_011538548.4:c.969T>C, XM_011538548.3:c.969T>C, XM_011538548.2:c.969T>C, XM_011538548.1:c.969T>C, XM_011538545.3:c.1215T>C, XM_011538545.2:c.1215T>C, XM_011538545.1:c.1215T>C, XM_006719478.3:c.1158T>C, XM_006719478.2:c.1158T>C, XM_006719478.1:c.1158T>C, XM_017019592.3:c.957T>C, XM_017019592.2:c.957T>C, XM_017019592.1:c.957T>C, XM_024449043.2:c.804T>C, XM_024449043.1:c.804T>C, XM_011538549.2:c.1305T>C, XM_011538549.1:c.1305T>C, XM_024449042.2:c.1293T>C, XM_024449042.1:c.1293T>C, XM_011538544.2:c.1293T>C, XM_011538544.1:c.1293T>C, XM_017019586.2:c.1203T>C, XM_017019586.1:c.1203T>C, XM_047429116.1:c.1143T>C, XM_047429112.1:c.1215T>C, XM_047429113.1:c.1146T>C, XM_047429108.1:c.804T>C, XM_047429109.1:c.804T>C, XM_047429115.1:c.1143T>C, XM_047429111.1:c.792T>C, XM_047429110.1:c.804T>C, XM_047429107.1:c.804T>C, XM_047429106.1:c.1002T>C, XM_047429114.1:c.1305T>C

Select item 14846938565.

rs1484693856 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:95257171 (GRCh38)
12:95650947 (GRCh37)
Canonical SPDI:: NC_000012.12:95257170:G:A
Gene:: VEZT (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,missense_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_000012.12:g.95257171G>A, NC_000012.11:g.95650947G>A, NG_028987.2:g.44426G>A, NM_017599.4:c.190G>A, NM_017599.3:c.190G>A, NM_001352117.2:c.-255G>A, NM_001352117.1:c.-255G>A, NR_147923.2:n.693G>A, NR_147923.1:n.754G>A, NM_001352116.2:c.-255G>A, NM_001352116.1:c.-255G>A, NM_001352113.2:c.46G>A, NM_001352113.1:c.46G>A, NM_001352100.2:c.247G>A, NM_001352100.1:c.247G>A, NR_147922.2:n.234G>A, NR_147922.1:n.295G>A, NM_001352109.2:c.190G>A, NM_001352109.1:c.190G>A, NR_147921.2:n.234G>A, NR_147921.1:n.295G>A, NM_001352111.2:c.190G>A, NM_001352111.1:c.190G>A, NM_001352112.2:c.97G>A, NM_001352112.1:c.97G>A, NR_147917.2:n.868G>A, NR_147917.1:n.929G>A, NM_001352092.2:c.46G>A, NM_001352092.1:c.46G>A, NM_001352096.2:c.46G>A, NM_001352096.1:c.46G>A, NM_001352107.2:c.-255G>A, NM_001352107.1:c.-255G>A, NR_147918.2:n.307G>A, NR_147918.1:n.368G>A, NM_001352118.2:c.-255G>A, NM_001352118.1:c.-255G>A, NM_001352095.2:c.46G>A, NM_001352095.1:c.46G>A, NM_001352094.2:c.46G>A, NM_001352094.1:c.46G>A, NM_001352102.2:c.-255G>A, NM_001352102.1:c.-255G>A, NM_001352106.2:c.-255G>A, NM_001352106.1:c.-255G>A, NM_001352108.2:c.190G>A, NM_001352108.1:c.190G>A, NM_001352093.2:c.46G>A, NM_001352093.1:c.46G>A, NM_001352110.2:c.190G>A, NM_001352110.1:c.190G>A, NR_147920.2:n.307G>A, NR_147920.1:n.368G>A, NR_038241.2:n.307G>A, NR_038241.1:n.368G>A, NR_147924.2:n.307G>A, NR_147924.1:n.368G>A, NM_001352104.2:c.-255G>A, NM_001352104.1:c.-255G>A, NM_001352088.2:c.247G>A, NM_001352088.1:c.247G>A, NM_001352089.2:c.190G>A, NM_001352089.1:c.190G>A, NR_147919.2:n.234G>A, NR_147919.1:n.295G>A, NR_038242.2:n.230G>A, NR_038242.1:n.291G>A, NR_147926.2:n.234G>A, NR_147926.1:n.295G>A, NM_001352091.2:c.97G>A, NM_001352091.1:c.97G>A, NM_001352099.2:c.-49G>A, NM_001352099.1:c.-49G>A, NM_001352098.2:c.190G>A, NM_001352098.1:c.190G>A, XM_006719483.5:c.-255G>A, XM_006719483.4:c.-255G>A, XM_006719483.3:c.-255G>A, XM_006719483.2:c.-255G>A, XM_006719483.1:c.-255G>A, XM_011538550.4:c.247G>A, XM_011538550.3:c.247G>A, XM_011538550.2:c.247G>A, XM_011538550.1:c.247G>A, XM_011538549.2:c.247G>A, XM_011538549.1:c.247G>A, XM_024449042.2:c.247G>A, XM_024449042.1:c.247G>A, XM_011538544.2:c.247G>A, XM_011538544.1:c.247G>A, XM_047429116.1:c.97G>A, XM_047429108.1:c.-255G>A, XM_047429109.1:c.-255G>A, XM_047429115.1:c.97G>A, XM_047429110.1:c.-255G>A, XM_047429107.1:c.-255G>A, XM_047429114.1:c.247G>A, NP_060069.3:p.Ala64Thr, NP_001339042.1:p.Ala16Thr, NP_001339029.1:p.Ala83Thr, NP_001339038.1:p.Ala64Thr, NP_001339040.1:p.Ala64Thr, NP_001339041.1:p.Ala33Thr, NP_001339021.1:p.Ala16Thr, NP_001339025.1:p.Ala16Thr, NP_001339024.1:p.Ala16Thr, NP_001339023.1:p.Ala16Thr, NP_001339037.1:p.Ala64Thr, NP_001339022.1:p.Ala16Thr, NP_001339039.1:p.Ala64Thr, NP_001339017.1:p.Ala83Thr, NP_001339018.1:p.Ala64Thr, NP_001339020.1:p.Ala33Thr, NP_001339027.1:p.Ala64Thr, XP_011536852.1:p.Ala83Thr, XP_011536851.1:p.Ala83Thr, XP_024304810.1:p.Ala83Thr, XP_011536846.1:p.Ala83Thr, XP_047285072.1:p.Ala33Thr, XP_047285071.1:p.Ala33Thr, XP_047285070.1:p.Ala83Thr

Select item 14843619206.

rs1484361920 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:95282473 (GRCh38)
12:95676249 (GRCh37)
Canonical SPDI:: NC_000012.12:95282472:C:T
Gene:: VEZT (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.95282473C>T, NC_000012.11:g.95676249C>T, NG_028987.2:g.69728C>T, NM_017599.4:c.1157C>T, NM_017599.3:c.1157C>T, NM_001352117.2:c.725C>T, NM_001352117.1:c.725C>T, NR_147923.2:n.1656C>T, NR_147923.1:n.1717C>T, NM_001352116.2:c.725C>T, NM_001352116.1:c.725C>T, NM_001352113.2:c.1013C>T, NM_001352113.1:c.1013C>T, NM_001352100.2:c.1214C>T, NM_001352100.1:c.1214C>T, NR_147922.2:n.1240C>T, NR_147922.1:n.1301C>T, NM_001352109.2:c.1169C>T, NM_001352109.1:c.1169C>T, NR_147921.2:n.1209C>T, NR_147921.1:n.1270C>T, NM_001352111.2:c.1157C>T, NM_001352111.1:c.1157C>T, NM_001352112.2:c.1064C>T, NM_001352112.1:c.1064C>T, NM_001352115.2:c.725C>T, NM_001352115.1:c.725C>T, NM_001352119.2:c.713C>T, NM_001352119.1:c.713C>T, NR_147917.2:n.1843C>T, NR_147917.1:n.1904C>T, NM_001352092.2:c.1025C>T, NM_001352092.1:c.1025C>T, NM_001352096.2:c.1013C>T, NM_001352096.1:c.1013C>T, NM_001352107.2:c.713C>T, NM_001352107.1:c.713C>T, NR_147918.2:n.1437C>T, NR_147918.1:n.1498C>T, NM_001352118.2:c.713C>T, NM_001352118.1:c.713C>T, NM_001352095.2:c.1013C>T, NM_001352095.1:c.1013C>T, NM_001352094.2:c.1013C>T, NM_001352094.1:c.1013C>T, NM_001352102.2:c.725C>T, NM_001352102.1:c.725C>T, NM_001352106.2:c.713C>T, NM_001352106.1:c.713C>T, NM_001352108.2:c.1169C>T, NM_001352108.1:c.1169C>T, NM_001352093.2:c.1025C>T, NM_001352093.1:c.1025C>T, NM_001352110.2:c.1157C>T, NM_001352110.1:c.1157C>T, NR_147920.2:n.1282C>T, NR_147920.1:n.1343C>T, NR_038241.2:n.1274C>T, NR_038241.1:n.1335C>T, NR_147924.2:n.1270C>T, NR_147924.1:n.1331C>T, NM_001352104.2:c.713C>T, NM_001352104.1:c.713C>T, NM_001352088.2:c.1226C>T, NM_001352088.1:c.1226C>T, NM_001352103.2:c.713C>T, NM_001352103.1:c.713C>T, NM_001352089.2:c.1169C>T, NM_001352089.1:c.1169C>T, NR_147919.2:n.1209C>T, NR_147919.1:n.1270C>T, NR_038242.2:n.1209C>T, NR_038242.1:n.1270C>T, NR_147926.2:n.1197C>T, NR_147926.1:n.1258C>T, NM_001352091.2:c.1064C>T, NM_001352091.1:c.1064C>T, NM_001352097.2:c.935C>T, NM_001352097.1:c.935C>T, NM_001352090.2:c.1067C>T, NM_001352090.1:c.1067C>T, NM_001352099.2:c.755C>T, NM_001352099.1:c.755C>T, NM_001352101.2:c.725C>T, NM_001352101.1:c.725C>T, NR_147925.2:n.943C>T, NR_147925.1:n.1004C>T, NM_001352105.2:c.713C>T, NM_001352105.1:c.713C>T, XM_006719483.5:c.725C>T, XM_006719483.4:c.725C>T, XM_006719483.3:c.725C>T, XM_006719483.2:c.725C>T, XM_006719483.1:c.725C>T, XM_011538550.4:c.1226C>T, XM_011538550.3:c.1226C>T, XM_011538550.2:c.1226C>T, XM_011538550.1:c.1226C>T, XM_011538548.4:c.890C>T, XM_011538548.3:c.890C>T, XM_011538548.2:c.890C>T, XM_011538548.1:c.890C>T, XM_011538545.3:c.1136C>T, XM_011538545.2:c.1136C>T, XM_011538545.1:c.1136C>T, XM_006719478.3:c.1079C>T, XM_006719478.2:c.1079C>T, XM_006719478.1:c.1079C>T, XM_017019592.3:c.878C>T, XM_017019592.2:c.878C>T, XM_017019592.1:c.878C>T, XM_024449043.2:c.725C>T, XM_024449043.1:c.725C>T, XM_011538549.2:c.1226C>T, XM_011538549.1:c.1226C>T, XM_024449042.2:c.1214C>T, XM_024449042.1:c.1214C>T, XM_011538544.2:c.1214C>T, XM_011538544.1:c.1214C>T, XM_017019586.2:c.1124C>T, XM_017019586.1:c.1124C>T, XM_047429116.1:c.1064C>T, XM_047429112.1:c.1136C>T, XM_047429113.1:c.1067C>T, XM_047429108.1:c.725C>T, XM_047429109.1:c.725C>T, XM_047429115.1:c.1064C>T, XM_047429111.1:c.713C>T, XM_047429110.1:c.725C>T, XM_047429107.1:c.725C>T, XM_047429106.1:c.923C>T, XM_047429114.1:c.1226C>T, NP_060069.3:p.Ser386Phe, NP_001339046.1:p.Ser242Phe, NP_001339045.1:p.Ser242Phe, NP_001339042.1:p.Ser338Phe, NP_001339029.1:p.Ser405Phe, NP_001339038.1:p.Ser390Phe, NP_001339040.1:p.Ser386Phe, NP_001339041.1:p.Ser355Phe, NP_001339044.1:p.Ser242Phe, NP_001339048.1:p.Ser238Phe, NP_001339021.1:p.Ser342Phe, NP_001339025.1:p.Ser338Phe, NP_001339036.1:p.Ser238Phe, NP_001339047.1:p.Ser238Phe, NP_001339024.1:p.Ser338Phe, NP_001339023.1:p.Ser338Phe, NP_001339031.1:p.Ser242Phe, NP_001339035.1:p.Ser238Phe, NP_001339037.1:p.Ser390Phe, NP_001339022.1:p.Ser342Phe, NP_001339039.1:p.Ser386Phe, NP_001339033.1:p.Ser238Phe, NP_001339017.1:p.Ser409Phe, NP_001339032.1:p.Ser238Phe, NP_001339018.1:p.Ser390Phe, NP_001339020.1:p.Ser355Phe, NP_001339026.1:p.Ser312Phe, NP_001339019.1:p.Ser356Phe, NP_001339028.1:p.Ser252Phe, NP_001339030.1:p.Ser242Phe, NP_001339034.1:p.Ser238Phe, XP_006719546.1:p.Ser242Phe, XP_011536852.1:p.Ser409Phe, XP_011536850.1:p.Ser297Phe, XP_011536847.1:p.Ser379Phe, XP_006719541.1:p.Ser360Phe, XP_016875081.1:p.Ser293Phe, XP_024304811.1:p.Ser242Phe, XP_011536851.1:p.Ser409Phe, XP_024304810.1:p.Ser405Phe, XP_011536846.1:p.Ser405Phe, XP_016875075.1:p.Ser375Phe, XP_047285072.1:p.Ser355Phe, XP_047285068.1:p.Ser379Phe, XP_047285069.1:p.Ser356Phe, XP_047285064.1:p.Ser242Phe, XP_047285065.1:p.Ser242Phe, XP_047285071.1:p.Ser355Phe, XP_047285067.1:p.Ser238Phe, XP_047285066.1:p.Ser242Phe, XP_047285063.1:p.Ser242Phe, XP_047285062.1:p.Ser308Phe, XP_047285070.1:p.Ser409Phe

Select item 14840854957.

rs1484085495 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:95296123 (GRCh38)
12:95689899 (GRCh37)
Canonical SPDI:: NC_000012.12:95296122:C:G
Gene:: VEZT (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.95296123C>G, NC_000012.11:g.95689899C>G, NG_028987.2:g.83378C>G, NM_017599.4:c.1696C>G, NM_017599.3:c.1696C>G, NM_001352117.2:c.1264C>G, NM_001352117.1:c.1264C>G, NR_147923.2:n.2195C>G, NR_147923.1:n.2256C>G, NM_001352116.2:c.1264C>G, NM_001352116.1:c.1264C>G, NM_001352113.2:c.1552C>G, NM_001352113.1:c.1552C>G, NM_001352100.2:c.1753C>G, NM_001352100.1:c.1753C>G, NR_147922.2:n.1779C>G, NR_147922.1:n.1840C>G, NM_001352109.2:c.1708C>G, NM_001352109.1:c.1708C>G, NR_147921.2:n.1748C>G, NR_147921.1:n.1809C>G, NM_001352111.2:c.1696C>G, NM_001352111.1:c.1696C>G, NM_001352112.2:c.1603C>G, NM_001352112.1:c.1603C>G, NM_001352115.2:c.1264C>G, NM_001352115.1:c.1264C>G, NM_001352119.2:c.1252C>G, NM_001352119.1:c.1252C>G, NR_147917.2:n.2382C>G, NR_147917.1:n.2443C>G, NM_001352092.2:c.1564C>G, NM_001352092.1:c.1564C>G, NM_001352096.2:c.1552C>G, NM_001352096.1:c.1552C>G, NM_001352107.2:c.1252C>G, NM_001352107.1:c.1252C>G, NR_147918.2:n.1976C>G, NR_147918.1:n.2037C>G, NM_001352118.2:c.1252C>G, NM_001352118.1:c.1252C>G, NM_001352095.2:c.1552C>G, NM_001352095.1:c.1552C>G, NM_001352094.2:c.1552C>G, NM_001352094.1:c.1552C>G, NM_001352102.2:c.1264C>G, NM_001352102.1:c.1264C>G, NM_001352106.2:c.1252C>G, NM_001352106.1:c.1252C>G, NM_001352108.2:c.1708C>G, NM_001352108.1:c.1708C>G, NM_001352093.2:c.1564C>G, NM_001352093.1:c.1564C>G, NM_001352110.2:c.1696C>G, NM_001352110.1:c.1696C>G, NR_147920.2:n.1821C>G, NR_147920.1:n.1882C>G, NR_038241.2:n.1813C>G, NR_038241.1:n.1874C>G, NR_147924.2:n.1809C>G, NR_147924.1:n.1870C>G, NM_001352104.2:c.1252C>G, NM_001352104.1:c.1252C>G, NM_001352088.2:c.1765C>G, NM_001352088.1:c.1765C>G, NM_001352103.2:c.1252C>G, NM_001352103.1:c.1252C>G, NM_001352089.2:c.1708C>G, NM_001352089.1:c.1708C>G, NR_147919.2:n.1748C>G, NR_147919.1:n.1809C>G, NR_038242.2:n.1748C>G, NR_038242.1:n.1809C>G, NR_147926.2:n.1736C>G, NR_147926.1:n.1797C>G, NM_001352091.2:c.1603C>G, NM_001352091.1:c.1603C>G, NM_001352097.2:c.1474C>G, NM_001352097.1:c.1474C>G, NM_001352090.2:c.1606C>G, NM_001352090.1:c.1606C>G, NM_001352099.2:c.1294C>G, NM_001352099.1:c.1294C>G, NM_001352101.2:c.1264C>G, NM_001352101.1:c.1264C>G, NR_147925.2:n.1482C>G, NR_147925.1:n.1543C>G, NM_001352105.2:c.1252C>G, NM_001352105.1:c.1252C>G, NM_001352098.2:c.1423C>G, NM_001352098.1:c.1423C>G, NM_001352114.2:c.967C>G, NM_001352114.1:c.967C>G, XM_006719483.5:c.1264C>G, XM_006719483.4:c.1264C>G, XM_006719483.3:c.1264C>G, XM_006719483.2:c.1264C>G, XM_006719483.1:c.1264C>G, XM_011538550.4:c.1765C>G, XM_011538550.3:c.1765C>G, XM_011538550.2:c.1765C>G, XM_011538550.1:c.1765C>G, XM_011538548.4:c.1429C>G, XM_011538548.3:c.1429C>G, XM_011538548.2:c.1429C>G, XM_011538548.1:c.1429C>G, XM_011538545.3:c.1675C>G, XM_011538545.2:c.1675C>G, XM_011538545.1:c.1675C>G, XM_006719478.3:c.1618C>G, XM_006719478.2:c.1618C>G, XM_006719478.1:c.1618C>G, XM_017019592.3:c.1417C>G, XM_017019592.2:c.1417C>G, XM_017019592.1:c.1417C>G, XM_024449043.2:c.1264C>G, XM_024449043.1:c.1264C>G, XM_011538549.2:c.1765C>G, XM_011538549.1:c.1765C>G, XM_024449042.2:c.1753C>G, XM_024449042.1:c.1753C>G, XM_011538544.2:c.1753C>G, XM_011538544.1:c.1753C>G, XM_017019586.2:c.1663C>G, XM_017019586.1:c.1663C>G, XM_047429116.1:c.1603C>G, XM_047429112.1:c.1675C>G, XM_047429113.1:c.1606C>G, XM_047429108.1:c.1264C>G, XM_047429109.1:c.1264C>G, XM_047429115.1:c.1603C>G, XM_047429111.1:c.1252C>G, XM_047429110.1:c.1264C>G, XM_047429107.1:c.1264C>G, XM_047429106.1:c.1462C>G, NP_060069.3:p.Gln566Glu, NP_001339046.1:p.Gln422Glu, NP_001339045.1:p.Gln422Glu, NP_001339042.1:p.Gln518Glu, NP_001339029.1:p.Gln585Glu, NP_001339038.1:p.Gln570Glu, NP_001339040.1:p.Gln566Glu, NP_001339041.1:p.Gln535Glu, NP_001339044.1:p.Gln422Glu, NP_001339048.1:p.Gln418Glu, NP_001339021.1:p.Gln522Glu, NP_001339025.1:p.Gln518Glu, NP_001339036.1:p.Gln418Glu, NP_001339047.1:p.Gln418Glu, NP_001339024.1:p.Gln518Glu, NP_001339023.1:p.Gln518Glu, NP_001339031.1:p.Gln422Glu, NP_001339035.1:p.Gln418Glu, NP_001339037.1:p.Gln570Glu, NP_001339022.1:p.Gln522Glu, NP_001339039.1:p.Gln566Glu, NP_001339033.1:p.Gln418Glu, NP_001339017.1:p.Gln589Glu, NP_001339032.1:p.Gln418Glu, NP_001339018.1:p.Gln570Glu, NP_001339020.1:p.Gln535Glu, NP_001339026.1:p.Gln492Glu, NP_001339019.1:p.Gln536Glu, NP_001339028.1:p.Gln432Glu, NP_001339030.1:p.Gln422Glu, NP_001339034.1:p.Gln418Glu, NP_001339027.1:p.Gln475Glu, NP_001339043.1:p.Gln323Glu, XP_006719546.1:p.Gln422Glu, XP_011536852.1:p.Gln589Glu, XP_011536850.1:p.Gln477Glu, XP_011536847.1:p.Gln559Glu, XP_006719541.1:p.Gln540Glu, XP_016875081.1:p.Gln473Glu, XP_024304811.1:p.Gln422Glu, XP_011536851.1:p.Gln589Glu, XP_024304810.1:p.Gln585Glu, XP_011536846.1:p.Gln585Glu, XP_016875075.1:p.Gln555Glu, XP_047285072.1:p.Gln535Glu, XP_047285068.1:p.Gln559Glu, XP_047285069.1:p.Gln536Glu, XP_047285064.1:p.Gln422Glu, XP_047285065.1:p.Gln422Glu, XP_047285071.1:p.Gln535Glu, XP_047285067.1:p.Gln418Glu, XP_047285066.1:p.Gln422Glu, XP_047285063.1:p.Gln422Glu, XP_047285062.1:p.Gln488Glu

Select item 14833773638.

rs1483377363 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:95274783 (GRCh38)
12:95668559 (GRCh37)
Canonical SPDI:: NC_000012.12:95274782:T:C,NC_000012.12:95274782:T:G
Gene:: VEZT (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.95274783T>C, NC_000012.12:g.95274783T>G, NC_000012.11:g.95668559T>C, NC_000012.11:g.95668559T>G, NG_028987.2:g.62038T>C, NG_028987.2:g.62038T>G, NM_017599.4:c.890T>C, NM_017599.4:c.890T>G, NM_017599.3:c.890T>C, NM_017599.3:c.890T>G, NM_001352117.2:c.458T>C, NM_001352117.2:c.458T>G, NM_001352117.1:c.458T>C, NM_001352117.1:c.458T>G, NR_147923.2:n.1389T>C, NR_147923.2:n.1389T>G, NR_147923.1:n.1450T>C, NR_147923.1:n.1450T>G, NM_001352116.2:c.458T>C, NM_001352116.2:c.458T>G, NM_001352116.1:c.458T>C, NM_001352116.1:c.458T>G, NM_001352113.2:c.746T>C, NM_001352113.2:c.746T>G, NM_001352113.1:c.746T>C, NM_001352113.1:c.746T>G, NM_001352100.2:c.947T>C, NM_001352100.2:c.947T>G, NM_001352100.1:c.947T>C, NM_001352100.1:c.947T>G, NR_147922.2:n.973T>C, NR_147922.2:n.973T>G, NR_147922.1:n.1034T>C, NR_147922.1:n.1034T>G, NM_001352109.2:c.902T>C, NM_001352109.2:c.902T>G, NM_001352109.1:c.902T>C, NM_001352109.1:c.902T>G, NR_147921.2:n.942T>C, NR_147921.2:n.942T>G, NR_147921.1:n.1003T>C, NR_147921.1:n.1003T>G, NM_001352111.2:c.890T>C, NM_001352111.2:c.890T>G, NM_001352111.1:c.890T>C, NM_001352111.1:c.890T>G, NM_001352112.2:c.797T>C, NM_001352112.2:c.797T>G, NM_001352112.1:c.797T>C, NM_001352112.1:c.797T>G, NM_001352115.2:c.458T>C, NM_001352115.2:c.458T>G, NM_001352115.1:c.458T>C, NM_001352115.1:c.458T>G, NM_001352119.2:c.446T>C, NM_001352119.2:c.446T>G, NM_001352119.1:c.446T>C, NM_001352119.1:c.446T>G, NR_147917.2:n.1576T>C, NR_147917.2:n.1576T>G, NR_147917.1:n.1637T>C, NR_147917.1:n.1637T>G, NM_001352092.2:c.758T>C, NM_001352092.2:c.758T>G, NM_001352092.1:c.758T>C, NM_001352092.1:c.758T>G, NM_001352096.2:c.746T>C, NM_001352096.2:c.746T>G, NM_001352096.1:c.746T>C, NM_001352096.1:c.746T>G, NM_001352107.2:c.446T>C, NM_001352107.2:c.446T>G, NM_001352107.1:c.446T>C, NM_001352107.1:c.446T>G, NR_147918.2:n.1170T>C, NR_147918.2:n.1170T>G, NR_147918.1:n.1231T>C, NR_147918.1:n.1231T>G, NM_001352118.2:c.446T>C, NM_001352118.2:c.446T>G, NM_001352118.1:c.446T>C, NM_001352118.1:c.446T>G, NM_001352095.2:c.746T>C, NM_001352095.2:c.746T>G, NM_001352095.1:c.746T>C, NM_001352095.1:c.746T>G, NM_001352094.2:c.746T>C, NM_001352094.2:c.746T>G, NM_001352094.1:c.746T>C, NM_001352094.1:c.746T>G, NM_001352102.2:c.458T>C, NM_001352102.2:c.458T>G, NM_001352102.1:c.458T>C, NM_001352102.1:c.458T>G, NM_001352106.2:c.446T>C, NM_001352106.2:c.446T>G, NM_001352106.1:c.446T>C, NM_001352106.1:c.446T>G, NM_001352108.2:c.902T>C, NM_001352108.2:c.902T>G, NM_001352108.1:c.902T>C, NM_001352108.1:c.902T>G, NM_001352093.2:c.758T>C, NM_001352093.2:c.758T>G, NM_001352093.1:c.758T>C, NM_001352093.1:c.758T>G, NM_001352110.2:c.890T>C, NM_001352110.2:c.890T>G, NM_001352110.1:c.890T>C, NM_001352110.1:c.890T>G, NR_147920.2:n.1015T>C, NR_147920.2:n.1015T>G, NR_147920.1:n.1076T>C, NR_147920.1:n.1076T>G, NR_038241.2:n.1007T>C, NR_038241.2:n.1007T>G, NR_038241.1:n.1068T>C, NR_038241.1:n.1068T>G, NR_147924.2:n.1003T>C, NR_147924.2:n.1003T>G, NR_147924.1:n.1064T>C, NR_147924.1:n.1064T>G, NM_001352104.2:c.446T>C, NM_001352104.2:c.446T>G, NM_001352104.1:c.446T>C, NM_001352104.1:c.446T>G, NM_001352088.2:c.959T>C, NM_001352088.2:c.959T>G, NM_001352088.1:c.959T>C, NM_001352088.1:c.959T>G, NM_001352103.2:c.446T>C, NM_001352103.2:c.446T>G, NM_001352103.1:c.446T>C, NM_001352103.1:c.446T>G, NM_001352089.2:c.902T>C, NM_001352089.2:c.902T>G, NM_001352089.1:c.902T>C, NM_001352089.1:c.902T>G, NR_147919.2:n.942T>C, NR_147919.2:n.942T>G, NR_147919.1:n.1003T>C, NR_147919.1:n.1003T>G, NR_038242.2:n.942T>C, NR_038242.2:n.942T>G, NR_038242.1:n.1003T>C, NR_038242.1:n.1003T>G, NR_147926.2:n.930T>C, NR_147926.2:n.930T>G, NR_147926.1:n.991T>C, NR_147926.1:n.991T>G, NM_001352091.2:c.797T>C, NM_001352091.2:c.797T>G, NM_001352091.1:c.797T>C, NM_001352091.1:c.797T>G, NM_001352097.2:c.668T>C, NM_001352097.2:c.668T>G, NM_001352097.1:c.668T>C, NM_001352097.1:c.668T>G, NM_001352090.2:c.800T>C, NM_001352090.2:c.800T>G, NM_001352090.1:c.800T>C, NM_001352090.1:c.800T>G, NM_001352099.2:c.488T>C, NM_001352099.2:c.488T>G, NM_001352099.1:c.488T>C, NM_001352099.1:c.488T>G, NM_001352101.2:c.458T>C, NM_001352101.2:c.458T>G, NM_001352101.1:c.458T>C, NM_001352101.1:c.458T>G, NR_147925.2:n.676T>C, NR_147925.2:n.676T>G, NR_147925.1:n.737T>C, NR_147925.1:n.737T>G, NM_001352105.2:c.446T>C, NM_001352105.2:c.446T>G, NM_001352105.1:c.446T>C, NM_001352105.1:c.446T>G, NM_001352098.2:c.902T>C, NM_001352098.2:c.902T>G, NM_001352098.1:c.902T>C, NM_001352098.1:c.902T>G, NM_001352114.2:c.446T>C, NM_001352114.2:c.446T>G, NM_001352114.1:c.446T>C, NM_001352114.1:c.446T>G, XM_006719483.5:c.458T>C, XM_006719483.5:c.458T>G, XM_006719483.4:c.458T>C, XM_006719483.4:c.458T>G, XM_006719483.3:c.458T>C, XM_006719483.3:c.458T>G, XM_006719483.2:c.458T>C, XM_006719483.2:c.458T>G, XM_006719483.1:c.458T>C, XM_006719483.1:c.458T>G, XM_011538550.4:c.959T>C, XM_011538550.4:c.959T>G, XM_011538550.3:c.959T>C, XM_011538550.3:c.959T>G, XM_011538550.2:c.959T>C, XM_011538550.2:c.959T>G, XM_011538550.1:c.959T>C, XM_011538550.1:c.959T>G, XM_011538548.4:c.623T>C, XM_011538548.4:c.623T>G, XM_011538548.3:c.623T>C, XM_011538548.3:c.623T>G, XM_011538548.2:c.623T>C, XM_011538548.2:c.623T>G, XM_011538548.1:c.623T>C, XM_011538548.1:c.623T>G, XM_011538545.3:c.869T>C, XM_011538545.3:c.869T>G, XM_011538545.2:c.869T>C, XM_011538545.2:c.869T>G, XM_011538545.1:c.869T>C, XM_011538545.1:c.869T>G, XM_006719478.3:c.812T>C, XM_006719478.3:c.812T>G, XM_006719478.2:c.812T>C, XM_006719478.2:c.812T>G, XM_006719478.1:c.812T>C, XM_006719478.1:c.812T>G, XM_017019592.3:c.611T>C, XM_017019592.3:c.611T>G, XM_017019592.2:c.611T>C, XM_017019592.2:c.611T>G, XM_017019592.1:c.611T>C, XM_017019592.1:c.611T>G, XM_024449043.2:c.458T>C, XM_024449043.2:c.458T>G, XM_024449043.1:c.458T>C, XM_024449043.1:c.458T>G, XM_011538549.2:c.959T>C, XM_011538549.2:c.959T>G, XM_011538549.1:c.959T>C, XM_011538549.1:c.959T>G, XM_024449042.2:c.947T>C, XM_024449042.2:c.947T>G, XM_024449042.1:c.947T>C, XM_024449042.1:c.947T>G, XM_011538544.2:c.947T>C, XM_011538544.2:c.947T>G, XM_011538544.1:c.947T>C, XM_011538544.1:c.947T>G, XM_017019586.2:c.857T>C, XM_017019586.2:c.857T>G, XM_017019586.1:c.857T>C, XM_017019586.1:c.857T>G, XM_047429116.1:c.797T>C, XM_047429116.1:c.797T>G, XM_047429112.1:c.869T>C, XM_047429112.1:c.869T>G, XM_047429113.1:c.800T>C, XM_047429113.1:c.800T>G, XM_047429108.1:c.458T>C, XM_047429108.1:c.458T>G, XM_047429109.1:c.458T>C, XM_047429109.1:c.458T>G, XM_047429115.1:c.797T>C, XM_047429115.1:c.797T>G, XM_047429111.1:c.446T>C, XM_047429111.1:c.446T>G, XM_047429110.1:c.458T>C, XM_047429110.1:c.458T>G, XM_047429107.1:c.458T>C, XM_047429107.1:c.458T>G, XM_047429106.1:c.656T>C, XM_047429106.1:c.656T>G, XM_047429114.1:c.959T>C, XM_047429114.1:c.959T>G, NP_060069.3:p.Ile297Thr, NP_060069.3:p.Ile297Ser, NP_001339046.1:p.Ile153Thr, NP_001339046.1:p.Ile153Ser, NP_001339045.1:p.Ile153Thr, NP_001339045.1:p.Ile153Ser, NP_001339042.1:p.Ile249Thr, NP_001339042.1:p.Ile249Ser, NP_001339029.1:p.Ile316Thr, NP_001339029.1:p.Ile316Ser, NP_001339038.1:p.Ile301Thr, NP_001339038.1:p.Ile301Ser, NP_001339040.1:p.Ile297Thr, NP_001339040.1:p.Ile297Ser, NP_001339041.1:p.Ile266Thr, NP_001339041.1:p.Ile266Ser, NP_001339044.1:p.Ile153Thr, NP_001339044.1:p.Ile153Ser, NP_001339048.1:p.Ile149Thr, NP_001339048.1:p.Ile149Ser, NP_001339021.1:p.Ile253Thr, NP_001339021.1:p.Ile253Ser, NP_001339025.1:p.Ile249Thr, NP_001339025.1:p.Ile249Ser, NP_001339036.1:p.Ile149Thr, NP_001339036.1:p.Ile149Ser, NP_001339047.1:p.Ile149Thr, NP_001339047.1:p.Ile149Ser, NP_001339024.1:p.Ile249Thr, NP_001339024.1:p.Ile249Ser, NP_001339023.1:p.Ile249Thr, NP_001339023.1:p.Ile249Ser, NP_001339031.1:p.Ile153Thr, NP_001339031.1:p.Ile153Ser, NP_001339035.1:p.Ile149Thr, NP_001339035.1:p.Ile149Ser, NP_001339037.1:p.Ile301Thr, NP_001339037.1:p.Ile301Ser, NP_001339022.1:p.Ile253Thr, NP_001339022.1:p.Ile253Ser, NP_001339039.1:p.Ile297Thr, NP_001339039.1:p.Ile297Ser, NP_001339033.1:p.Ile149Thr, NP_001339033.1:p.Ile149Ser, NP_001339017.1:p.Ile320Thr, NP_001339017.1:p.Ile320Ser, NP_001339032.1:p.Ile149Thr, NP_001339032.1:p.Ile149Ser, NP_001339018.1:p.Ile301Thr, NP_001339018.1:p.Ile301Ser, NP_001339020.1:p.Ile266Thr, NP_001339020.1:p.Ile266Ser, NP_001339026.1:p.Ile223Thr, NP_001339026.1:p.Ile223Ser, NP_001339019.1:p.Ile267Thr, NP_001339019.1:p.Ile267Ser, NP_001339028.1:p.Ile163Thr, NP_001339028.1:p.Ile163Ser, NP_001339030.1:p.Ile153Thr, NP_001339030.1:p.Ile153Ser, NP_001339034.1:p.Ile149Thr, NP_001339034.1:p.Ile149Ser, NP_001339027.1:p.Ile301Thr, NP_001339027.1:p.Ile301Ser, NP_001339043.1:p.Ile149Thr, NP_001339043.1:p.Ile149Ser, XP_006719546.1:p.Ile153Thr, XP_006719546.1:p.Ile153Ser, XP_011536852.1:p.Ile320Thr, XP_011536852.1:p.Ile320Ser, XP_011536850.1:p.Ile208Thr, XP_011536850.1:p.Ile208Ser, XP_011536847.1:p.Ile290Thr, XP_011536847.1:p.Ile290Ser, XP_006719541.1:p.Ile271Thr, XP_006719541.1:p.Ile271Ser, XP_016875081.1:p.Ile204Thr, XP_016875081.1:p.Ile204Ser, XP_024304811.1:p.Ile153Thr, XP_024304811.1:p.Ile153Ser, XP_011536851.1:p.Ile320Thr, XP_011536851.1:p.Ile320Ser, XP_024304810.1:p.Ile316Thr, XP_024304810.1:p.Ile316Ser, XP_011536846.1:p.Ile316Thr, XP_011536846.1:p.Ile316Ser, XP_016875075.1:p.Ile286Thr, XP_016875075.1:p.Ile286Ser, XP_047285072.1:p.Ile266Thr, XP_047285072.1:p.Ile266Ser, XP_047285068.1:p.Ile290Thr, XP_047285068.1:p.Ile290Ser, XP_047285069.1:p.Ile267Thr, XP_047285069.1:p.Ile267Ser, XP_047285064.1:p.Ile153Thr, XP_047285064.1:p.Ile153Ser, XP_047285065.1:p.Ile153Thr, XP_047285065.1:p.Ile153Ser, XP_047285071.1:p.Ile266Thr, XP_047285071.1:p.Ile266Ser, XP_047285067.1:p.Ile149Thr, XP_047285067.1:p.Ile149Ser, XP_047285066.1:p.Ile153Thr, XP_047285066.1:p.Ile153Ser, XP_047285063.1:p.Ile153Thr, XP_047285063.1:p.Ile153Ser, XP_047285062.1:p.Ile219Thr, XP_047285062.1:p.Ile219Ser, XP_047285070.1:p.Ile320Thr, XP_047285070.1:p.Ile320Ser

Select item 14831029909.

rs1483102990 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:95287849 (GRCh38)
12:95681625 (GRCh37)
Canonical SPDI:: NC_000012.12:95287848:A:G
Gene:: VEZT (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.95287849A>G, NC_000012.11:g.95681625A>G, NG_028987.2:g.75104A>G, NM_017599.4:c.1514A>G, NM_017599.3:c.1514A>G, NM_001352117.2:c.1082A>G, NM_001352117.1:c.1082A>G, NR_147923.2:n.2013A>G, NR_147923.1:n.2074A>G, NM_001352116.2:c.1082A>G, NM_001352116.1:c.1082A>G, NM_001352113.2:c.1370A>G, NM_001352113.1:c.1370A>G, NM_001352100.2:c.1571A>G, NM_001352100.1:c.1571A>G, NR_147922.2:n.1597A>G, NR_147922.1:n.1658A>G, NM_001352109.2:c.1526A>G, NM_001352109.1:c.1526A>G, NR_147921.2:n.1566A>G, NR_147921.1:n.1627A>G, NM_001352111.2:c.1514A>G, NM_001352111.1:c.1514A>G, NM_001352112.2:c.1421A>G, NM_001352112.1:c.1421A>G, NM_001352115.2:c.1082A>G, NM_001352115.1:c.1082A>G, NM_001352119.2:c.1070A>G, NM_001352119.1:c.1070A>G, NR_147917.2:n.2200A>G, NR_147917.1:n.2261A>G, NM_001352092.2:c.1382A>G, NM_001352092.1:c.1382A>G, NM_001352096.2:c.1370A>G, NM_001352096.1:c.1370A>G, NM_001352107.2:c.1070A>G, NM_001352107.1:c.1070A>G, NR_147918.2:n.1794A>G, NR_147918.1:n.1855A>G, NM_001352118.2:c.1070A>G, NM_001352118.1:c.1070A>G, NM_001352095.2:c.1370A>G, NM_001352095.1:c.1370A>G, NM_001352094.2:c.1370A>G, NM_001352094.1:c.1370A>G, NM_001352102.2:c.1082A>G, NM_001352102.1:c.1082A>G, NM_001352106.2:c.1070A>G, NM_001352106.1:c.1070A>G, NM_001352108.2:c.1526A>G, NM_001352108.1:c.1526A>G, NM_001352093.2:c.1382A>G, NM_001352093.1:c.1382A>G, NM_001352110.2:c.1514A>G, NM_001352110.1:c.1514A>G, NR_147920.2:n.1639A>G, NR_147920.1:n.1700A>G, NR_038241.2:n.1631A>G, NR_038241.1:n.1692A>G, NR_147924.2:n.1627A>G, NR_147924.1:n.1688A>G, NM_001352104.2:c.1070A>G, NM_001352104.1:c.1070A>G, NM_001352088.2:c.1583A>G, NM_001352088.1:c.1583A>G, NM_001352103.2:c.1070A>G, NM_001352103.1:c.1070A>G, NM_001352089.2:c.1526A>G, NM_001352089.1:c.1526A>G, NR_147919.2:n.1566A>G, NR_147919.1:n.1627A>G, NR_038242.2:n.1566A>G, NR_038242.1:n.1627A>G, NR_147926.2:n.1554A>G, NR_147926.1:n.1615A>G, NM_001352091.2:c.1421A>G, NM_001352091.1:c.1421A>G, NM_001352097.2:c.1292A>G, NM_001352097.1:c.1292A>G, NM_001352090.2:c.1424A>G, NM_001352090.1:c.1424A>G, NM_001352099.2:c.1112A>G, NM_001352099.1:c.1112A>G, NM_001352101.2:c.1082A>G, NM_001352101.1:c.1082A>G, NR_147925.2:n.1300A>G, NR_147925.1:n.1361A>G, NM_001352105.2:c.1070A>G, NM_001352105.1:c.1070A>G, NM_001352098.2:c.1241A>G, NM_001352098.1:c.1241A>G, NM_001352114.2:c.785A>G, NM_001352114.1:c.785A>G, XM_006719483.5:c.1082A>G, XM_006719483.4:c.1082A>G, XM_006719483.3:c.1082A>G, XM_006719483.2:c.1082A>G, XM_006719483.1:c.1082A>G, XM_011538550.4:c.1583A>G, XM_011538550.3:c.1583A>G, XM_011538550.2:c.1583A>G, XM_011538550.1:c.1583A>G, XM_011538548.4:c.1247A>G, XM_011538548.3:c.1247A>G, XM_011538548.2:c.1247A>G, XM_011538548.1:c.1247A>G, XM_011538545.3:c.1493A>G, XM_011538545.2:c.1493A>G, XM_011538545.1:c.1493A>G, XM_006719478.3:c.1436A>G, XM_006719478.2:c.1436A>G, XM_006719478.1:c.1436A>G, XM_017019592.3:c.1235A>G, XM_017019592.2:c.1235A>G, XM_017019592.1:c.1235A>G, XM_024449043.2:c.1082A>G, XM_024449043.1:c.1082A>G, XM_011538549.2:c.1583A>G, XM_011538549.1:c.1583A>G, XM_024449042.2:c.1571A>G, XM_024449042.1:c.1571A>G, XM_011538544.2:c.1571A>G, XM_011538544.1:c.1571A>G, XM_017019586.2:c.1481A>G, XM_017019586.1:c.1481A>G, XM_047429116.1:c.1421A>G, XM_047429112.1:c.1493A>G, XM_047429113.1:c.1424A>G, XM_047429108.1:c.1082A>G, XM_047429109.1:c.1082A>G, XM_047429115.1:c.1421A>G, XM_047429111.1:c.1070A>G, XM_047429110.1:c.1082A>G, XM_047429107.1:c.1082A>G, XM_047429106.1:c.1280A>G, NP_060069.3:p.Asp505Gly, NP_001339046.1:p.Asp361Gly, NP_001339045.1:p.Asp361Gly, NP_001339042.1:p.Asp457Gly, NP_001339029.1:p.Asp524Gly, NP_001339038.1:p.Asp509Gly, NP_001339040.1:p.Asp505Gly, NP_001339041.1:p.Asp474Gly, NP_001339044.1:p.Asp361Gly, NP_001339048.1:p.Asp357Gly, NP_001339021.1:p.Asp461Gly, NP_001339025.1:p.Asp457Gly, NP_001339036.1:p.Asp357Gly, NP_001339047.1:p.Asp357Gly, NP_001339024.1:p.Asp457Gly, NP_001339023.1:p.Asp457Gly, NP_001339031.1:p.Asp361Gly, NP_001339035.1:p.Asp357Gly, NP_001339037.1:p.Asp509Gly, NP_001339022.1:p.Asp461Gly, NP_001339039.1:p.Asp505Gly, NP_001339033.1:p.Asp357Gly, NP_001339017.1:p.Asp528Gly, NP_001339032.1:p.Asp357Gly, NP_001339018.1:p.Asp509Gly, NP_001339020.1:p.Asp474Gly, NP_001339026.1:p.Asp431Gly, NP_001339019.1:p.Asp475Gly, NP_001339028.1:p.Asp371Gly, NP_001339030.1:p.Asp361Gly, NP_001339034.1:p.Asp357Gly, NP_001339027.1:p.Asp414Gly, NP_001339043.1:p.Asp262Gly, XP_006719546.1:p.Asp361Gly, XP_011536852.1:p.Asp528Gly, XP_011536850.1:p.Asp416Gly, XP_011536847.1:p.Asp498Gly, XP_006719541.1:p.Asp479Gly, XP_016875081.1:p.Asp412Gly, XP_024304811.1:p.Asp361Gly, XP_011536851.1:p.Asp528Gly, XP_024304810.1:p.Asp524Gly, XP_011536846.1:p.Asp524Gly, XP_016875075.1:p.Asp494Gly, XP_047285072.1:p.Asp474Gly, XP_047285068.1:p.Asp498Gly, XP_047285069.1:p.Asp475Gly, XP_047285064.1:p.Asp361Gly, XP_047285065.1:p.Asp361Gly, XP_047285071.1:p.Asp474Gly, XP_047285067.1:p.Asp357Gly, XP_047285066.1:p.Asp361Gly, XP_047285063.1:p.Asp361Gly, XP_047285062.1:p.Asp427Gly

Select item 148108561310.

rs1481085613 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:95296085 (GRCh38)
12:95689861 (GRCh37)
Canonical SPDI:: NC_000012.12:95296084:A:G
Gene:: VEZT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.95296085A>G, NC_000012.11:g.95689861A>G, NG_028987.2:g.83340A>G, NM_017599.4:c.1658A>G, NM_017599.3:c.1658A>G, NM_001352117.2:c.1226A>G, NM_001352117.1:c.1226A>G, NR_147923.2:n.2157A>G, NR_147923.1:n.2218A>G, NM_001352116.2:c.1226A>G, NM_001352116.1:c.1226A>G, NM_001352113.2:c.1514A>G, NM_001352113.1:c.1514A>G, NM_001352100.2:c.1715A>G, NM_001352100.1:c.1715A>G, NR_147922.2:n.1741A>G, NR_147922.1:n.1802A>G, NM_001352109.2:c.1670A>G, NM_001352109.1:c.1670A>G, NR_147921.2:n.1710A>G, NR_147921.1:n.1771A>G, NM_001352111.2:c.1658A>G, NM_001352111.1:c.1658A>G, NM_001352112.2:c.1565A>G, NM_001352112.1:c.1565A>G, NM_001352115.2:c.1226A>G, NM_001352115.1:c.1226A>G, NM_001352119.2:c.1214A>G, NM_001352119.1:c.1214A>G, NR_147917.2:n.2344A>G, NR_147917.1:n.2405A>G, NM_001352092.2:c.1526A>G, NM_001352092.1:c.1526A>G, NM_001352096.2:c.1514A>G, NM_001352096.1:c.1514A>G, NM_001352107.2:c.1214A>G, NM_001352107.1:c.1214A>G, NR_147918.2:n.1938A>G, NR_147918.1:n.1999A>G, NM_001352118.2:c.1214A>G, NM_001352118.1:c.1214A>G, NM_001352095.2:c.1514A>G, NM_001352095.1:c.1514A>G, NM_001352094.2:c.1514A>G, NM_001352094.1:c.1514A>G, NM_001352102.2:c.1226A>G, NM_001352102.1:c.1226A>G, NM_001352106.2:c.1214A>G, NM_001352106.1:c.1214A>G, NM_001352108.2:c.1670A>G, NM_001352108.1:c.1670A>G, NM_001352093.2:c.1526A>G, NM_001352093.1:c.1526A>G, NM_001352110.2:c.1658A>G, NM_001352110.1:c.1658A>G, NR_147920.2:n.1783A>G, NR_147920.1:n.1844A>G, NR_038241.2:n.1775A>G, NR_038241.1:n.1836A>G, NR_147924.2:n.1771A>G, NR_147924.1:n.1832A>G, NM_001352104.2:c.1214A>G, NM_001352104.1:c.1214A>G, NM_001352088.2:c.1727A>G, NM_001352088.1:c.1727A>G, NM_001352103.2:c.1214A>G, NM_001352103.1:c.1214A>G, NM_001352089.2:c.1670A>G, NM_001352089.1:c.1670A>G, NR_147919.2:n.1710A>G, NR_147919.1:n.1771A>G, NR_038242.2:n.1710A>G, NR_038242.1:n.1771A>G, NR_147926.2:n.1698A>G, NR_147926.1:n.1759A>G, NM_001352091.2:c.1565A>G, NM_001352091.1:c.1565A>G, NM_001352097.2:c.1436A>G, NM_001352097.1:c.1436A>G, NM_001352090.2:c.1568A>G, NM_001352090.1:c.1568A>G, NM_001352099.2:c.1256A>G, NM_001352099.1:c.1256A>G, NM_001352101.2:c.1226A>G, NM_001352101.1:c.1226A>G, NR_147925.2:n.1444A>G, NR_147925.1:n.1505A>G, NM_001352105.2:c.1214A>G, NM_001352105.1:c.1214A>G, NM_001352098.2:c.1385A>G, NM_001352098.1:c.1385A>G, NM_001352114.2:c.929A>G, NM_001352114.1:c.929A>G, XM_006719483.5:c.1226A>G, XM_006719483.4:c.1226A>G, XM_006719483.3:c.1226A>G, XM_006719483.2:c.1226A>G, XM_006719483.1:c.1226A>G, XM_011538550.4:c.1727A>G, XM_011538550.3:c.1727A>G, XM_011538550.2:c.1727A>G, XM_011538550.1:c.1727A>G, XM_011538548.4:c.1391A>G, XM_011538548.3:c.1391A>G, XM_011538548.2:c.1391A>G, XM_011538548.1:c.1391A>G, XM_011538545.3:c.1637A>G, XM_011538545.2:c.1637A>G, XM_011538545.1:c.1637A>G, XM_006719478.3:c.1580A>G, XM_006719478.2:c.1580A>G, XM_006719478.1:c.1580A>G, XM_017019592.3:c.1379A>G, XM_017019592.2:c.1379A>G, XM_017019592.1:c.1379A>G, XM_024449043.2:c.1226A>G, XM_024449043.1:c.1226A>G, XM_011538549.2:c.1727A>G, XM_011538549.1:c.1727A>G, XM_024449042.2:c.1715A>G, XM_024449042.1:c.1715A>G, XM_011538544.2:c.1715A>G, XM_011538544.1:c.1715A>G, XM_017019586.2:c.1625A>G, XM_017019586.1:c.1625A>G, XM_047429116.1:c.1565A>G, XM_047429112.1:c.1637A>G, XM_047429113.1:c.1568A>G, XM_047429108.1:c.1226A>G, XM_047429109.1:c.1226A>G, XM_047429115.1:c.1565A>G, XM_047429111.1:c.1214A>G, XM_047429110.1:c.1226A>G, XM_047429107.1:c.1226A>G, XM_047429106.1:c.1424A>G, NP_060069.3:p.Asp553Gly, NP_001339046.1:p.Asp409Gly, NP_001339045.1:p.Asp409Gly, NP_001339042.1:p.Asp505Gly, NP_001339029.1:p.Asp572Gly, NP_001339038.1:p.Asp557Gly, NP_001339040.1:p.Asp553Gly, NP_001339041.1:p.Asp522Gly, NP_001339044.1:p.Asp409Gly, NP_001339048.1:p.Asp405Gly, NP_001339021.1:p.Asp509Gly, NP_001339025.1:p.Asp505Gly, NP_001339036.1:p.Asp405Gly, NP_001339047.1:p.Asp405Gly, NP_001339024.1:p.Asp505Gly, NP_001339023.1:p.Asp505Gly, NP_001339031.1:p.Asp409Gly, NP_001339035.1:p.Asp405Gly, NP_001339037.1:p.Asp557Gly, NP_001339022.1:p.Asp509Gly, NP_001339039.1:p.Asp553Gly, NP_001339033.1:p.Asp405Gly, NP_001339017.1:p.Asp576Gly, NP_001339032.1:p.Asp405Gly, NP_001339018.1:p.Asp557Gly, NP_001339020.1:p.Asp522Gly, NP_001339026.1:p.Asp479Gly, NP_001339019.1:p.Asp523Gly, NP_001339028.1:p.Asp419Gly, NP_001339030.1:p.Asp409Gly, NP_001339034.1:p.Asp405Gly, NP_001339027.1:p.Asp462Gly, NP_001339043.1:p.Asp310Gly, XP_006719546.1:p.Asp409Gly, XP_011536852.1:p.Asp576Gly, XP_011536850.1:p.Asp464Gly, XP_011536847.1:p.Asp546Gly, XP_006719541.1:p.Asp527Gly, XP_016875081.1:p.Asp460Gly, XP_024304811.1:p.Asp409Gly, XP_011536851.1:p.Asp576Gly, XP_024304810.1:p.Asp572Gly, XP_011536846.1:p.Asp572Gly, XP_016875075.1:p.Asp542Gly, XP_047285072.1:p.Asp522Gly, XP_047285068.1:p.Asp546Gly, XP_047285069.1:p.Asp523Gly, XP_047285064.1:p.Asp409Gly, XP_047285065.1:p.Asp409Gly, XP_047285071.1:p.Asp522Gly, XP_047285067.1:p.Asp405Gly, XP_047285066.1:p.Asp409Gly, XP_047285063.1:p.Asp409Gly, XP_047285062.1:p.Asp475Gly

Select item 147802320911.

rs1478023209 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:95294272 (GRCh38)
12:95688048 (GRCh37)
Canonical SPDI:: NC_000012.12:95294271:G:A
Gene:: VEZT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.95294272G>A, NC_000012.11:g.95688048G>A, NG_028987.2:g.81527G>A, NM_017599.4:c.1523G>A, NM_017599.3:c.1523G>A, NM_001352117.2:c.1091G>A, NM_001352117.1:c.1091G>A, NR_147923.2:n.2022G>A, NR_147923.1:n.2083G>A, NM_001352116.2:c.1091G>A, NM_001352116.1:c.1091G>A, NM_001352113.2:c.1379G>A, NM_001352113.1:c.1379G>A, NM_001352100.2:c.1580G>A, NM_001352100.1:c.1580G>A, NR_147922.2:n.1606G>A, NR_147922.1:n.1667G>A, NM_001352109.2:c.1535G>A, NM_001352109.1:c.1535G>A, NR_147921.2:n.1575G>A, NR_147921.1:n.1636G>A, NM_001352111.2:c.1523G>A, NM_001352111.1:c.1523G>A, NM_001352112.2:c.1430G>A, NM_001352112.1:c.1430G>A, NM_001352115.2:c.1091G>A, NM_001352115.1:c.1091G>A, NM_001352119.2:c.1079G>A, NM_001352119.1:c.1079G>A, NR_147917.2:n.2209G>A, NR_147917.1:n.2270G>A, NM_001352092.2:c.1391G>A, NM_001352092.1:c.1391G>A, NM_001352096.2:c.1379G>A, NM_001352096.1:c.1379G>A, NM_001352107.2:c.1079G>A, NM_001352107.1:c.1079G>A, NR_147918.2:n.1803G>A, NR_147918.1:n.1864G>A, NM_001352118.2:c.1079G>A, NM_001352118.1:c.1079G>A, NM_001352095.2:c.1379G>A, NM_001352095.1:c.1379G>A, NM_001352094.2:c.1379G>A, NM_001352094.1:c.1379G>A, NM_001352102.2:c.1091G>A, NM_001352102.1:c.1091G>A, NM_001352106.2:c.1079G>A, NM_001352106.1:c.1079G>A, NM_001352108.2:c.1535G>A, NM_001352108.1:c.1535G>A, NM_001352093.2:c.1391G>A, NM_001352093.1:c.1391G>A, NM_001352110.2:c.1523G>A, NM_001352110.1:c.1523G>A, NR_147920.2:n.1648G>A, NR_147920.1:n.1709G>A, NR_038241.2:n.1640G>A, NR_038241.1:n.1701G>A, NR_147924.2:n.1636G>A, NR_147924.1:n.1697G>A, NM_001352104.2:c.1079G>A, NM_001352104.1:c.1079G>A, NM_001352088.2:c.1592G>A, NM_001352088.1:c.1592G>A, NM_001352103.2:c.1079G>A, NM_001352103.1:c.1079G>A, NM_001352089.2:c.1535G>A, NM_001352089.1:c.1535G>A, NR_147919.2:n.1575G>A, NR_147919.1:n.1636G>A, NR_038242.2:n.1575G>A, NR_038242.1:n.1636G>A, NR_147926.2:n.1563G>A, NR_147926.1:n.1624G>A, NM_001352091.2:c.1430G>A, NM_001352091.1:c.1430G>A, NM_001352097.2:c.1301G>A, NM_001352097.1:c.1301G>A, NM_001352090.2:c.1433G>A, NM_001352090.1:c.1433G>A, NM_001352099.2:c.1121G>A, NM_001352099.1:c.1121G>A, NM_001352101.2:c.1091G>A, NM_001352101.1:c.1091G>A, NR_147925.2:n.1309G>A, NR_147925.1:n.1370G>A, NM_001352105.2:c.1079G>A, NM_001352105.1:c.1079G>A, NM_001352098.2:c.1250G>A, NM_001352098.1:c.1250G>A, NM_001352114.2:c.794G>A, NM_001352114.1:c.794G>A, XM_006719483.5:c.1091G>A, XM_006719483.4:c.1091G>A, XM_006719483.3:c.1091G>A, XM_006719483.2:c.1091G>A, XM_006719483.1:c.1091G>A, XM_011538550.4:c.1592G>A, XM_011538550.3:c.1592G>A, XM_011538550.2:c.1592G>A, XM_011538550.1:c.1592G>A, XM_011538548.4:c.1256G>A, XM_011538548.3:c.1256G>A, XM_011538548.2:c.1256G>A, XM_011538548.1:c.1256G>A, XM_011538545.3:c.1502G>A, XM_011538545.2:c.1502G>A, XM_011538545.1:c.1502G>A, XM_006719478.3:c.1445G>A, XM_006719478.2:c.1445G>A, XM_006719478.1:c.1445G>A, XM_017019592.3:c.1244G>A, XM_017019592.2:c.1244G>A, XM_017019592.1:c.1244G>A, XM_024449043.2:c.1091G>A, XM_024449043.1:c.1091G>A, XM_011538549.2:c.1592G>A, XM_011538549.1:c.1592G>A, XM_024449042.2:c.1580G>A, XM_024449042.1:c.1580G>A, XM_011538544.2:c.1580G>A, XM_011538544.1:c.1580G>A, XM_017019586.2:c.1490G>A, XM_017019586.1:c.1490G>A, XM_047429116.1:c.1430G>A, XM_047429112.1:c.1502G>A, XM_047429113.1:c.1433G>A, XM_047429108.1:c.1091G>A, XM_047429109.1:c.1091G>A, XM_047429115.1:c.1430G>A, XM_047429111.1:c.1079G>A, XM_047429110.1:c.1091G>A, XM_047429107.1:c.1091G>A, XM_047429106.1:c.1289G>A, XM_047429114.1:c.1398G>A, NP_060069.3:p.Gly508Asp, NP_001339046.1:p.Gly364Asp, NP_001339045.1:p.Gly364Asp, NP_001339042.1:p.Gly460Asp, NP_001339029.1:p.Gly527Asp, NP_001339038.1:p.Gly512Asp, NP_001339040.1:p.Gly508Asp, NP_001339041.1:p.Gly477Asp, NP_001339044.1:p.Gly364Asp, NP_001339048.1:p.Gly360Asp, NP_001339021.1:p.Gly464Asp, NP_001339025.1:p.Gly460Asp, NP_001339036.1:p.Gly360Asp, NP_001339047.1:p.Gly360Asp, NP_001339024.1:p.Gly460Asp, NP_001339023.1:p.Gly460Asp, NP_001339031.1:p.Gly364Asp, NP_001339035.1:p.Gly360Asp, NP_001339037.1:p.Gly512Asp, NP_001339022.1:p.Gly464Asp, NP_001339039.1:p.Gly508Asp, NP_001339033.1:p.Gly360Asp, NP_001339017.1:p.Gly531Asp, NP_001339032.1:p.Gly360Asp, NP_001339018.1:p.Gly512Asp, NP_001339020.1:p.Gly477Asp, NP_001339026.1:p.Gly434Asp, NP_001339019.1:p.Gly478Asp, NP_001339028.1:p.Gly374Asp, NP_001339030.1:p.Gly364Asp, NP_001339034.1:p.Gly360Asp, NP_001339027.1:p.Gly417Asp, NP_001339043.1:p.Gly265Asp, XP_006719546.1:p.Gly364Asp, XP_011536852.1:p.Gly531Asp, XP_011536850.1:p.Gly419Asp, XP_011536847.1:p.Gly501Asp, XP_006719541.1:p.Gly482Asp, XP_016875081.1:p.Gly415Asp, XP_024304811.1:p.Gly364Asp, XP_011536851.1:p.Gly531Asp, XP_024304810.1:p.Gly527Asp, XP_011536846.1:p.Gly527Asp, XP_016875075.1:p.Gly497Asp, XP_047285072.1:p.Gly477Asp, XP_047285068.1:p.Gly501Asp, XP_047285069.1:p.Gly478Asp, XP_047285064.1:p.Gly364Asp, XP_047285065.1:p.Gly364Asp, XP_047285071.1:p.Gly477Asp, XP_047285067.1:p.Gly360Asp, XP_047285066.1:p.Gly364Asp, XP_047285063.1:p.Gly364Asp, XP_047285062.1:p.Gly430Asp

Select item 147763427212.

rs1477634272 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:95257154 (GRCh38)
12:95650930 (GRCh37)
Canonical SPDI:: NC_000012.12:95257153:G:T
Gene:: VEZT (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.95257154G>T, NC_000012.11:g.95650930G>T, NG_028987.2:g.44409G>T, NM_017599.4:c.173G>T, NM_017599.3:c.173G>T, NM_001352117.2:c.-272G>T, NM_001352117.1:c.-272G>T, NR_147923.2:n.676G>T, NR_147923.1:n.737G>T, NM_001352116.2:c.-272G>T, NM_001352116.1:c.-272G>T, NM_001352113.2:c.29G>T, NM_001352113.1:c.29G>T, NM_001352100.2:c.230G>T, NM_001352100.1:c.230G>T, NR_147922.2:n.217G>T, NR_147922.1:n.278G>T, NM_001352109.2:c.173G>T, NM_001352109.1:c.173G>T, NR_147921.2:n.217G>T, NR_147921.1:n.278G>T, NM_001352111.2:c.173G>T, NM_001352111.1:c.173G>T, NM_001352112.2:c.80G>T, NM_001352112.1:c.80G>T, NR_147917.2:n.851G>T, NR_147917.1:n.912G>T, NM_001352092.2:c.29G>T, NM_001352092.1:c.29G>T, NM_001352096.2:c.29G>T, NM_001352096.1:c.29G>T, NM_001352107.2:c.-272G>T, NM_001352107.1:c.-272G>T, NR_147918.2:n.290G>T, NR_147918.1:n.351G>T, NM_001352118.2:c.-272G>T, NM_001352118.1:c.-272G>T, NM_001352095.2:c.29G>T, NM_001352095.1:c.29G>T, NM_001352094.2:c.29G>T, NM_001352094.1:c.29G>T, NM_001352102.2:c.-272G>T, NM_001352102.1:c.-272G>T, NM_001352106.2:c.-272G>T, NM_001352106.1:c.-272G>T, NM_001352108.2:c.173G>T, NM_001352108.1:c.173G>T, NM_001352093.2:c.29G>T, NM_001352093.1:c.29G>T, NM_001352110.2:c.173G>T, NM_001352110.1:c.173G>T, NR_147920.2:n.290G>T, NR_147920.1:n.351G>T, NR_038241.2:n.290G>T, NR_038241.1:n.351G>T, NR_147924.2:n.290G>T, NR_147924.1:n.351G>T, NM_001352104.2:c.-272G>T, NM_001352104.1:c.-272G>T, NM_001352088.2:c.230G>T, NM_001352088.1:c.230G>T, NM_001352089.2:c.173G>T, NM_001352089.1:c.173G>T, NR_147919.2:n.217G>T, NR_147919.1:n.278G>T, NR_038242.2:n.213G>T, NR_038242.1:n.274G>T, NR_147926.2:n.217G>T, NR_147926.1:n.278G>T, NM_001352091.2:c.80G>T, NM_001352091.1:c.80G>T, NM_001352099.2:c.-66G>T, NM_001352099.1:c.-66G>T, NM_001352098.2:c.173G>T, NM_001352098.1:c.173G>T, XM_006719483.5:c.-272G>T, XM_006719483.4:c.-272G>T, XM_006719483.3:c.-272G>T, XM_006719483.2:c.-272G>T, XM_006719483.1:c.-272G>T, XM_011538550.4:c.230G>T, XM_011538550.3:c.230G>T, XM_011538550.2:c.230G>T, XM_011538550.1:c.230G>T, XM_011538549.2:c.230G>T, XM_011538549.1:c.230G>T, XM_024449042.2:c.230G>T, XM_024449042.1:c.230G>T, XM_011538544.2:c.230G>T, XM_011538544.1:c.230G>T, XM_047429116.1:c.80G>T, XM_047429108.1:c.-272G>T, XM_047429109.1:c.-272G>T, XM_047429115.1:c.80G>T, XM_047429110.1:c.-272G>T, XM_047429107.1:c.-272G>T, XM_047429114.1:c.230G>T, NP_060069.3:p.Gly58Val, NP_001339042.1:p.Gly10Val, NP_001339029.1:p.Gly77Val, NP_001339038.1:p.Gly58Val, NP_001339040.1:p.Gly58Val, NP_001339041.1:p.Ser27Ile, NP_001339021.1:p.Gly10Val, NP_001339025.1:p.Gly10Val, NP_001339024.1:p.Gly10Val, NP_001339023.1:p.Gly10Val, NP_001339037.1:p.Gly58Val, NP_001339022.1:p.Gly10Val, NP_001339039.1:p.Gly58Val, NP_001339017.1:p.Gly77Val, NP_001339018.1:p.Gly58Val, NP_001339020.1:p.Ser27Ile, NP_001339027.1:p.Gly58Val, XP_011536852.1:p.Gly77Val, XP_011536851.1:p.Gly77Val, XP_024304810.1:p.Gly77Val, XP_011536846.1:p.Gly77Val, XP_047285072.1:p.Ser27Ile, XP_047285071.1:p.Ser27Ile, XP_047285070.1:p.Gly77Val

Select item 147718511013.

rs1477185110 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:95300240 (GRCh38)
12:95694016 (GRCh37)
Canonical SPDI:: NC_000012.12:95300239:T:C
Gene:: VEZT (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.95300240T>C, NC_000012.11:g.95694016T>C, NG_028987.2:g.87495T>C, NM_017599.4:c.1907T>C, NM_017599.3:c.1907T>C, NM_001352117.2:c.*1124T>C, NM_001352117.1:c.*1124T>C, NR_147923.2:n.3477T>C, NR_147923.1:n.3538T>C, NM_001352116.2:c.*1124T>C, NM_001352116.1:c.*1124T>C, NM_001352113.2:c.*1124T>C, NM_001352113.1:c.*1124T>C, NM_001352100.2:c.*1124T>C, NM_001352100.1:c.*1124T>C, NR_147922.2:n.3061T>C, NR_147922.1:n.3122T>C, NM_001352109.2:c.*1124T>C, NM_001352109.1:c.*1124T>C, NR_147921.2:n.3030T>C, NR_147921.1:n.3091T>C, NM_001352111.2:c.*1124T>C, NM_001352111.1:c.*1124T>C, NM_001352112.2:c.*1124T>C, NM_001352112.1:c.*1124T>C, NM_001352115.2:c.*1124T>C, NM_001352115.1:c.*1124T>C, NM_001352119.2:c.*1124T>C, NM_001352119.1:c.*1124T>C, NR_147917.2:n.2675T>C, NR_147917.1:n.2736T>C, NM_001352092.2:c.1775T>C, NM_001352092.1:c.1775T>C, NM_001352096.2:c.1763T>C, NM_001352096.1:c.1763T>C, NM_001352107.2:c.1463T>C, NM_001352107.1:c.1463T>C, NR_147918.2:n.2187T>C, NR_147918.1:n.2248T>C, NM_001352118.2:c.*123T>C, NM_001352118.1:c.*123T>C, NM_001352095.2:c.1763T>C, NM_001352095.1:c.1763T>C, NM_001352094.2:c.1763T>C, NM_001352094.1:c.1763T>C, NM_001352102.2:c.1475T>C, NM_001352102.1:c.1475T>C, NM_001352106.2:c.1463T>C, NM_001352106.1:c.1463T>C, NM_001352108.2:c.*123T>C, NM_001352108.1:c.*123T>C, NM_001352093.2:c.1775T>C, NM_001352093.1:c.1775T>C, NM_001352110.2:c.*123T>C, NM_001352110.1:c.*123T>C, NR_147920.2:n.2032T>C, NR_147920.1:n.2093T>C, NR_038241.2:n.2024T>C, NR_038241.1:n.2085T>C, NR_147924.2:n.2020T>C, NR_147924.1:n.2081T>C, NM_001352104.2:c.1463T>C, NM_001352104.1:c.1463T>C, NM_001352088.2:c.1976T>C, NM_001352088.1:c.1976T>C, NM_001352103.2:c.1463T>C, NM_001352103.1:c.1463T>C, NM_001352089.2:c.1919T>C, NM_001352089.1:c.1919T>C, NR_147919.2:n.1959T>C, NR_147919.1:n.2020T>C, NR_038242.2:n.1959T>C, NR_038242.1:n.2020T>C, NR_147926.2:n.1947T>C, NR_147926.1:n.2008T>C, NM_001352091.2:c.1814T>C, NM_001352091.1:c.1814T>C, NM_001352097.2:c.1685T>C, NM_001352097.1:c.1685T>C, NM_001352090.2:c.1817T>C, NM_001352090.1:c.1817T>C, NM_001352099.2:c.1505T>C, NM_001352099.1:c.1505T>C, NM_001352101.2:c.1475T>C, NM_001352101.1:c.1475T>C, NR_147925.2:n.1693T>C, NR_147925.1:n.1754T>C, NM_001352105.2:c.1463T>C, NM_001352105.1:c.1463T>C, NM_001352098.2:c.1634T>C, NM_001352098.1:c.1634T>C, NM_001352114.2:c.1178T>C, NM_001352114.1:c.1178T>C, XM_006719483.5:c.1475T>C, XM_006719483.4:c.1475T>C, XM_006719483.3:c.1475T>C, XM_006719483.2:c.1475T>C, XM_006719483.1:c.1475T>C, XM_011538550.4:c.*1124T>C, XM_011538550.3:c.*1124T>C, XM_011538550.2:c.*1124T>C, XM_011538548.4:c.1640T>C, XM_011538548.3:c.1640T>C, XM_011538548.2:c.1640T>C, XM_011538548.1:c.1640T>C, XM_011538545.3:c.1886T>C, XM_011538545.2:c.1886T>C, XM_011538545.1:c.1886T>C, XM_006719478.3:c.1829T>C, XM_006719478.2:c.1829T>C, XM_006719478.1:c.1829T>C, XM_017019592.3:c.1628T>C, XM_017019592.2:c.1628T>C, XM_017019592.1:c.1628T>C, XM_024449043.2:c.1475T>C, XM_024449043.1:c.1475T>C, XM_011538549.2:c.*123T>C, XM_011538549.1:c.*123T>C, XM_024449042.2:c.*123T>C, XM_024449042.1:c.*123T>C, XM_011538544.2:c.1964T>C, XM_011538544.1:c.1964T>C, XM_017019586.2:c.1874T>C, XM_017019586.1:c.1874T>C, XM_047429116.1:c.*1124T>C, XM_047429112.1:c.*1124T>C, XM_047429113.1:c.*1124T>C, XM_047429108.1:c.1475T>C, XM_047429109.1:c.1475T>C, XM_047429115.1:c.1814T>C, XM_047429111.1:c.1463T>C, XM_047429110.1:c.1475T>C, XM_047429107.1:c.1475T>C, XM_047429106.1:c.1673T>C, NP_060069.3:p.Met636Thr, NP_001339021.1:p.Met592Thr, NP_001339025.1:p.Met588Thr, NP_001339036.1:p.Met488Thr, NP_001339024.1:p.Met588Thr, NP_001339023.1:p.Met588Thr, NP_001339031.1:p.Met492Thr, NP_001339035.1:p.Met488Thr, NP_001339022.1:p.Met592Thr, NP_001339033.1:p.Met488Thr, NP_001339017.1:p.Met659Thr, NP_001339032.1:p.Met488Thr, NP_001339018.1:p.Met640Thr, NP_001339020.1:p.Met605Thr, NP_001339026.1:p.Met562Thr, NP_001339019.1:p.Met606Thr, NP_001339028.1:p.Met502Thr, NP_001339030.1:p.Met492Thr, NP_001339034.1:p.Met488Thr, NP_001339027.1:p.Met545Thr, NP_001339043.1:p.Met393Thr, XP_006719546.1:p.Met492Thr, XP_011536850.1:p.Met547Thr, XP_011536847.1:p.Met629Thr, XP_006719541.1:p.Met610Thr, XP_016875081.1:p.Met543Thr, XP_024304811.1:p.Met492Thr, XP_011536846.1:p.Met655Thr, XP_016875075.1:p.Met625Thr, XP_047285064.1:p.Met492Thr, XP_047285065.1:p.Met492Thr, XP_047285071.1:p.Met605Thr, XP_047285067.1:p.Met488Thr, XP_047285066.1:p.Met492Thr, XP_047285063.1:p.Met492Thr, XP_047285062.1:p.Met558Thr

Select item 147459511514.

rs1474595115 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:95282602 (GRCh38)
12:95676378 (GRCh37)
Canonical SPDI:: NC_000012.12:95282601:C:T
Gene:: VEZT (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.95282602C>T, NC_000012.11:g.95676378C>T, NG_028987.2:g.69857C>T, NM_017599.4:c.1286C>T, NM_017599.3:c.1286C>T, NM_001352117.2:c.854C>T, NM_001352117.1:c.854C>T, NR_147923.2:n.1785C>T, NR_147923.1:n.1846C>T, NM_001352116.2:c.854C>T, NM_001352116.1:c.854C>T, NM_001352113.2:c.1142C>T, NM_001352113.1:c.1142C>T, NM_001352100.2:c.1343C>T, NM_001352100.1:c.1343C>T, NR_147922.2:n.1369C>T, NR_147922.1:n.1430C>T, NM_001352109.2:c.1298C>T, NM_001352109.1:c.1298C>T, NR_147921.2:n.1338C>T, NR_147921.1:n.1399C>T, NM_001352111.2:c.1286C>T, NM_001352111.1:c.1286C>T, NM_001352112.2:c.1193C>T, NM_001352112.1:c.1193C>T, NM_001352115.2:c.854C>T, NM_001352115.1:c.854C>T, NM_001352119.2:c.842C>T, NM_001352119.1:c.842C>T, NR_147917.2:n.1972C>T, NR_147917.1:n.2033C>T, NM_001352092.2:c.1154C>T, NM_001352092.1:c.1154C>T, NM_001352096.2:c.1142C>T, NM_001352096.1:c.1142C>T, NM_001352107.2:c.842C>T, NM_001352107.1:c.842C>T, NR_147918.2:n.1566C>T, NR_147918.1:n.1627C>T, NM_001352118.2:c.842C>T, NM_001352118.1:c.842C>T, NM_001352095.2:c.1142C>T, NM_001352095.1:c.1142C>T, NM_001352094.2:c.1142C>T, NM_001352094.1:c.1142C>T, NM_001352102.2:c.854C>T, NM_001352102.1:c.854C>T, NM_001352106.2:c.842C>T, NM_001352106.1:c.842C>T, NM_001352108.2:c.1298C>T, NM_001352108.1:c.1298C>T, NM_001352093.2:c.1154C>T, NM_001352093.1:c.1154C>T, NM_001352110.2:c.1286C>T, NM_001352110.1:c.1286C>T, NR_147920.2:n.1411C>T, NR_147920.1:n.1472C>T, NR_038241.2:n.1403C>T, NR_038241.1:n.1464C>T, NR_147924.2:n.1399C>T, NR_147924.1:n.1460C>T, NM_001352104.2:c.842C>T, NM_001352104.1:c.842C>T, NM_001352088.2:c.1355C>T, NM_001352088.1:c.1355C>T, NM_001352103.2:c.842C>T, NM_001352103.1:c.842C>T, NM_001352089.2:c.1298C>T, NM_001352089.1:c.1298C>T, NR_147919.2:n.1338C>T, NR_147919.1:n.1399C>T, NR_038242.2:n.1338C>T, NR_038242.1:n.1399C>T, NR_147926.2:n.1326C>T, NR_147926.1:n.1387C>T, NM_001352091.2:c.1193C>T, NM_001352091.1:c.1193C>T, NM_001352097.2:c.1064C>T, NM_001352097.1:c.1064C>T, NM_001352090.2:c.1196C>T, NM_001352090.1:c.1196C>T, NM_001352099.2:c.884C>T, NM_001352099.1:c.884C>T, NM_001352101.2:c.854C>T, NM_001352101.1:c.854C>T, NR_147925.2:n.1072C>T, NR_147925.1:n.1133C>T, NM_001352105.2:c.842C>T, NM_001352105.1:c.842C>T, XM_006719483.5:c.854C>T, XM_006719483.4:c.854C>T, XM_006719483.3:c.854C>T, XM_006719483.2:c.854C>T, XM_006719483.1:c.854C>T, XM_011538550.4:c.1355C>T, XM_011538550.3:c.1355C>T, XM_011538550.2:c.1355C>T, XM_011538550.1:c.1355C>T, XM_011538548.4:c.1019C>T, XM_011538548.3:c.1019C>T, XM_011538548.2:c.1019C>T, XM_011538548.1:c.1019C>T, XM_011538545.3:c.1265C>T, XM_011538545.2:c.1265C>T, XM_011538545.1:c.1265C>T, XM_006719478.3:c.1208C>T, XM_006719478.2:c.1208C>T, XM_006719478.1:c.1208C>T, XM_017019592.3:c.1007C>T, XM_017019592.2:c.1007C>T, XM_017019592.1:c.1007C>T, XM_024449043.2:c.854C>T, XM_024449043.1:c.854C>T, XM_011538549.2:c.1355C>T, XM_011538549.1:c.1355C>T, XM_024449042.2:c.1343C>T, XM_024449042.1:c.1343C>T, XM_011538544.2:c.1343C>T, XM_011538544.1:c.1343C>T, XM_017019586.2:c.1253C>T, XM_017019586.1:c.1253C>T, XM_047429116.1:c.1193C>T, XM_047429112.1:c.1265C>T, XM_047429113.1:c.1196C>T, XM_047429108.1:c.854C>T, XM_047429109.1:c.854C>T, XM_047429115.1:c.1193C>T, XM_047429111.1:c.842C>T, XM_047429110.1:c.854C>T, XM_047429107.1:c.854C>T, XM_047429106.1:c.1052C>T, XM_047429114.1:c.1355C>T, NP_060069.3:p.Ala429Val, NP_001339046.1:p.Ala285Val, NP_001339045.1:p.Ala285Val, NP_001339042.1:p.Ala381Val, NP_001339029.1:p.Ala448Val, NP_001339038.1:p.Ala433Val, NP_001339040.1:p.Ala429Val, NP_001339041.1:p.Ala398Val, NP_001339044.1:p.Ala285Val, NP_001339048.1:p.Ala281Val, NP_001339021.1:p.Ala385Val, NP_001339025.1:p.Ala381Val, NP_001339036.1:p.Ala281Val, NP_001339047.1:p.Ala281Val, NP_001339024.1:p.Ala381Val, NP_001339023.1:p.Ala381Val, NP_001339031.1:p.Ala285Val, NP_001339035.1:p.Ala281Val, NP_001339037.1:p.Ala433Val, NP_001339022.1:p.Ala385Val, NP_001339039.1:p.Ala429Val, NP_001339033.1:p.Ala281Val, NP_001339017.1:p.Ala452Val, NP_001339032.1:p.Ala281Val, NP_001339018.1:p.Ala433Val, NP_001339020.1:p.Ala398Val, NP_001339026.1:p.Ala355Val, NP_001339019.1:p.Ala399Val, NP_001339028.1:p.Ala295Val, NP_001339030.1:p.Ala285Val, NP_001339034.1:p.Ala281Val, XP_006719546.1:p.Ala285Val, XP_011536852.1:p.Ala452Val, XP_011536850.1:p.Ala340Val, XP_011536847.1:p.Ala422Val, XP_006719541.1:p.Ala403Val, XP_016875081.1:p.Ala336Val, XP_024304811.1:p.Ala285Val, XP_011536851.1:p.Ala452Val, XP_024304810.1:p.Ala448Val, XP_011536846.1:p.Ala448Val, XP_016875075.1:p.Ala418Val, XP_047285072.1:p.Ala398Val, XP_047285068.1:p.Ala422Val, XP_047285069.1:p.Ala399Val, XP_047285064.1:p.Ala285Val, XP_047285065.1:p.Ala285Val, XP_047285071.1:p.Ala398Val, XP_047285067.1:p.Ala281Val, XP_047285066.1:p.Ala285Val, XP_047285063.1:p.Ala285Val, XP_047285062.1:p.Ala351Val, XP_047285070.1:p.Ala452Val

Select item 147427996715.

rs1474279967 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:95266619 (GRCh38)
12:95660395 (GRCh37)
Canonical SPDI:: NC_000012.12:95266618:A:G
Gene:: VEZT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.95266619A>G, NC_000012.11:g.95660395A>G, NG_028987.2:g.53874A>G, NM_017599.4:c.697A>G, NM_017599.3:c.697A>G, NM_001352117.2:c.253A>G, NM_001352117.1:c.253A>G, NR_147923.2:n.1200A>G, NR_147923.1:n.1261A>G, NM_001352116.2:c.253A>G, NM_001352116.1:c.253A>G, NM_001352113.2:c.553A>G, NM_001352113.1:c.553A>G, NM_001352100.2:c.754A>G, NM_001352100.1:c.754A>G, NR_147922.2:n.784A>G, NR_147922.1:n.845A>G, NM_001352109.2:c.697A>G, NM_001352109.1:c.697A>G, NR_147921.2:n.741A>G, NR_147921.1:n.802A>G, NM_001352111.2:c.697A>G, NM_001352111.1:c.697A>G, NM_001352112.2:c.604A>G, NM_001352112.1:c.604A>G, NM_001352115.2:c.253A>G, NM_001352115.1:c.253A>G, NM_001352119.2:c.253A>G, NM_001352119.1:c.253A>G, NR_147917.2:n.1375A>G, NR_147917.1:n.1436A>G, NM_001352092.2:c.553A>G, NM_001352092.1:c.553A>G, NM_001352096.2:c.553A>G, NM_001352096.1:c.553A>G, NM_001352107.2:c.253A>G, NM_001352107.1:c.253A>G, NR_147918.2:n.981A>G, NR_147918.1:n.1042A>G, NM_001352118.2:c.253A>G, NM_001352118.1:c.253A>G, NM_001352095.2:c.553A>G, NM_001352095.1:c.553A>G, NM_001352094.2:c.553A>G, NM_001352094.1:c.553A>G, NM_001352102.2:c.253A>G, NM_001352102.1:c.253A>G, NM_001352106.2:c.253A>G, NM_001352106.1:c.253A>G, NM_001352108.2:c.697A>G, NM_001352108.1:c.697A>G, NM_001352093.2:c.553A>G, NM_001352093.1:c.553A>G, NM_001352110.2:c.697A>G, NM_001352110.1:c.697A>G, NR_147920.2:n.814A>G, NR_147920.1:n.875A>G, NR_038241.2:n.814A>G, NR_038241.1:n.875A>G, NR_147924.2:n.814A>G, NR_147924.1:n.875A>G, NM_001352104.2:c.253A>G, NM_001352104.1:c.253A>G, NM_001352088.2:c.754A>G, NM_001352088.1:c.754A>G, NM_001352103.2:c.253A>G, NM_001352103.1:c.253A>G, NM_001352089.2:c.697A>G, NM_001352089.1:c.697A>G, NR_147919.2:n.741A>G, NR_147919.1:n.802A>G, NR_038242.2:n.737A>G, NR_038242.1:n.798A>G, NR_147926.2:n.741A>G, NR_147926.1:n.802A>G, NM_001352091.2:c.604A>G, NM_001352091.1:c.604A>G, NM_001352097.2:c.463A>G, NM_001352097.1:c.463A>G, NM_001352090.2:c.607A>G, NM_001352090.1:c.607A>G, NM_001352099.2:c.283A>G, NM_001352099.1:c.283A>G, NM_001352101.2:c.253A>G, NM_001352101.1:c.253A>G, NR_147925.2:n.475A>G, NR_147925.1:n.536A>G, NM_001352105.2:c.253A>G, NM_001352105.1:c.253A>G, NM_001352098.2:c.697A>G, NM_001352098.1:c.697A>G, NM_001352114.2:c.253A>G, NM_001352114.1:c.253A>G, XM_006719483.5:c.253A>G, XM_006719483.4:c.253A>G, XM_006719483.3:c.253A>G, XM_006719483.2:c.253A>G, XM_006719483.1:c.253A>G, XM_011538550.4:c.754A>G, XM_011538550.3:c.754A>G, XM_011538550.2:c.754A>G, XM_011538550.1:c.754A>G, XM_011538548.4:c.418A>G, XM_011538548.3:c.418A>G, XM_011538548.2:c.418A>G, XM_011538548.1:c.418A>G, XM_011538545.3:c.664A>G, XM_011538545.2:c.664A>G, XM_011538545.1:c.664A>G, XM_006719478.3:c.607A>G, XM_006719478.2:c.607A>G, XM_006719478.1:c.607A>G, XM_017019592.3:c.418A>G, XM_017019592.2:c.418A>G, XM_017019592.1:c.418A>G, XM_024449043.2:c.253A>G, XM_024449043.1:c.253A>G, XM_011538549.2:c.754A>G, XM_011538549.1:c.754A>G, XM_024449042.2:c.754A>G, XM_024449042.1:c.754A>G, XM_011538544.2:c.754A>G, XM_011538544.1:c.754A>G, XM_017019586.2:c.664A>G, XM_017019586.1:c.664A>G, XM_047429116.1:c.604A>G, XM_047429112.1:c.664A>G, XM_047429113.1:c.607A>G, XM_047429108.1:c.253A>G, XM_047429109.1:c.253A>G, XM_047429115.1:c.604A>G, XM_047429111.1:c.253A>G, XM_047429110.1:c.253A>G, XM_047429107.1:c.253A>G, XM_047429106.1:c.463A>G, XM_047429114.1:c.754A>G, NP_060069.3:p.Arg233Gly, NP_001339046.1:p.Arg85Gly, NP_001339045.1:p.Arg85Gly, NP_001339042.1:p.Arg185Gly, NP_001339029.1:p.Arg252Gly, NP_001339038.1:p.Arg233Gly, NP_001339040.1:p.Arg233Gly, NP_001339041.1:p.Arg202Gly, NP_001339044.1:p.Arg85Gly, NP_001339048.1:p.Arg85Gly, NP_001339021.1:p.Arg185Gly, NP_001339025.1:p.Arg185Gly, NP_001339036.1:p.Arg85Gly, NP_001339047.1:p.Arg85Gly, NP_001339024.1:p.Arg185Gly, NP_001339023.1:p.Arg185Gly, NP_001339031.1:p.Arg85Gly, NP_001339035.1:p.Arg85Gly, NP_001339037.1:p.Arg233Gly, NP_001339022.1:p.Arg185Gly, NP_001339039.1:p.Arg233Gly, NP_001339033.1:p.Arg85Gly, NP_001339017.1:p.Arg252Gly, NP_001339032.1:p.Arg85Gly, NP_001339018.1:p.Arg233Gly, NP_001339020.1:p.Arg202Gly, NP_001339026.1:p.Arg155Gly, NP_001339019.1:p.Arg203Gly, NP_001339028.1:p.Arg95Gly, NP_001339030.1:p.Arg85Gly, NP_001339034.1:p.Arg85Gly, NP_001339027.1:p.Arg233Gly, NP_001339043.1:p.Arg85Gly, XP_006719546.1:p.Arg85Gly, XP_011536852.1:p.Arg252Gly, XP_011536850.1:p.Arg140Gly, XP_011536847.1:p.Arg222Gly, XP_006719541.1:p.Arg203Gly, XP_016875081.1:p.Arg140Gly, XP_024304811.1:p.Arg85Gly, XP_011536851.1:p.Arg252Gly, XP_024304810.1:p.Arg252Gly, XP_011536846.1:p.Arg252Gly, XP_016875075.1:p.Arg222Gly, XP_047285072.1:p.Arg202Gly, XP_047285068.1:p.Arg222Gly, XP_047285069.1:p.Arg203Gly, XP_047285064.1:p.Arg85Gly, XP_047285065.1:p.Arg85Gly, XP_047285071.1:p.Arg202Gly, XP_047285067.1:p.Arg85Gly, XP_047285066.1:p.Arg85Gly, XP_047285063.1:p.Arg85Gly, XP_047285062.1:p.Arg155Gly, XP_047285070.1:p.Arg252Gly

Select item 147362068116.

rs1473620681 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:95282414 (GRCh38)
12:95676190 (GRCh37)
Canonical SPDI:: NC_000012.12:95282413:A:G
Gene:: VEZT (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00003/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.95282414A>G, NC_000012.11:g.95676190A>G, NG_028987.2:g.69669A>G, NM_017599.4:c.1098A>G, NM_017599.3:c.1098A>G, NM_001352117.2:c.666A>G, NM_001352117.1:c.666A>G, NR_147923.2:n.1597A>G, NR_147923.1:n.1658A>G, NM_001352116.2:c.666A>G, NM_001352116.1:c.666A>G, NM_001352113.2:c.954A>G, NM_001352113.1:c.954A>G, NM_001352100.2:c.1155A>G, NM_001352100.1:c.1155A>G, NR_147922.2:n.1181A>G, NR_147922.1:n.1242A>G, NM_001352109.2:c.1110A>G, NM_001352109.1:c.1110A>G, NR_147921.2:n.1150A>G, NR_147921.1:n.1211A>G, NM_001352111.2:c.1098A>G, NM_001352111.1:c.1098A>G, NM_001352112.2:c.1005A>G, NM_001352112.1:c.1005A>G, NM_001352115.2:c.666A>G, NM_001352115.1:c.666A>G, NM_001352119.2:c.654A>G, NM_001352119.1:c.654A>G, NR_147917.2:n.1784A>G, NR_147917.1:n.1845A>G, NM_001352092.2:c.966A>G, NM_001352092.1:c.966A>G, NM_001352096.2:c.954A>G, NM_001352096.1:c.954A>G, NM_001352107.2:c.654A>G, NM_001352107.1:c.654A>G, NR_147918.2:n.1378A>G, NR_147918.1:n.1439A>G, NM_001352118.2:c.654A>G, NM_001352118.1:c.654A>G, NM_001352095.2:c.954A>G, NM_001352095.1:c.954A>G, NM_001352094.2:c.954A>G, NM_001352094.1:c.954A>G, NM_001352102.2:c.666A>G, NM_001352102.1:c.666A>G, NM_001352106.2:c.654A>G, NM_001352106.1:c.654A>G, NM_001352108.2:c.1110A>G, NM_001352108.1:c.1110A>G, NM_001352093.2:c.966A>G, NM_001352093.1:c.966A>G, NM_001352110.2:c.1098A>G, NM_001352110.1:c.1098A>G, NR_147920.2:n.1223A>G, NR_147920.1:n.1284A>G, NR_038241.2:n.1215A>G, NR_038241.1:n.1276A>G, NR_147924.2:n.1211A>G, NR_147924.1:n.1272A>G, NM_001352104.2:c.654A>G, NM_001352104.1:c.654A>G, NM_001352088.2:c.1167A>G, NM_001352088.1:c.1167A>G, NM_001352103.2:c.654A>G, NM_001352103.1:c.654A>G, NM_001352089.2:c.1110A>G, NM_001352089.1:c.1110A>G, NR_147919.2:n.1150A>G, NR_147919.1:n.1211A>G, NR_038242.2:n.1150A>G, NR_038242.1:n.1211A>G, NR_147926.2:n.1138A>G, NR_147926.1:n.1199A>G, NM_001352091.2:c.1005A>G, NM_001352091.1:c.1005A>G, NM_001352097.2:c.876A>G, NM_001352097.1:c.876A>G, NM_001352090.2:c.1008A>G, NM_001352090.1:c.1008A>G, NM_001352099.2:c.696A>G, NM_001352099.1:c.696A>G, NM_001352101.2:c.666A>G, NM_001352101.1:c.666A>G, NR_147925.2:n.884A>G, NR_147925.1:n.945A>G, NM_001352105.2:c.654A>G, NM_001352105.1:c.654A>G, XM_006719483.5:c.666A>G, XM_006719483.4:c.666A>G, XM_006719483.3:c.666A>G, XM_006719483.2:c.666A>G, XM_006719483.1:c.666A>G, XM_011538550.4:c.1167A>G, XM_011538550.3:c.1167A>G, XM_011538550.2:c.1167A>G, XM_011538550.1:c.1167A>G, XM_011538548.4:c.831A>G, XM_011538548.3:c.831A>G, XM_011538548.2:c.831A>G, XM_011538548.1:c.831A>G, XM_011538545.3:c.1077A>G, XM_011538545.2:c.1077A>G, XM_011538545.1:c.1077A>G, XM_006719478.3:c.1020A>G, XM_006719478.2:c.1020A>G, XM_006719478.1:c.1020A>G, XM_017019592.3:c.819A>G, XM_017019592.2:c.819A>G, XM_017019592.1:c.819A>G, XM_024449043.2:c.666A>G, XM_024449043.1:c.666A>G, XM_011538549.2:c.1167A>G, XM_011538549.1:c.1167A>G, XM_024449042.2:c.1155A>G, XM_024449042.1:c.1155A>G, XM_011538544.2:c.1155A>G, XM_011538544.1:c.1155A>G, XM_017019586.2:c.1065A>G, XM_017019586.1:c.1065A>G, XM_047429116.1:c.1005A>G, XM_047429112.1:c.1077A>G, XM_047429113.1:c.1008A>G, XM_047429108.1:c.666A>G, XM_047429109.1:c.666A>G, XM_047429115.1:c.1005A>G, XM_047429111.1:c.654A>G, XM_047429110.1:c.666A>G, XM_047429107.1:c.666A>G, XM_047429106.1:c.864A>G, XM_047429114.1:c.1167A>G

Select item 147320029317.

rs1473200293 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 12:95294288 (GRCh38)
12:95688064 (GRCh37)
Canonical SPDI:: NC_000012.12:95294287:A:
Gene:: VEZT (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.95294288del, NC_000012.11:g.95688064del, NG_028987.2:g.81543del, NM_017599.4:c.1539del, NM_017599.3:c.1539del, NM_001352117.2:c.1107del, NM_001352117.1:c.1107del, NR_147923.2:n.2038del, NR_147923.1:n.2099del, NM_001352116.2:c.1107del, NM_001352116.1:c.1107del, NM_001352113.2:c.1395del, NM_001352113.1:c.1395del, NM_001352100.2:c.1596del, NM_001352100.1:c.1596del, NR_147922.2:n.1622del, NR_147922.1:n.1683del, NM_001352109.2:c.1551del, NM_001352109.1:c.1551del, NR_147921.2:n.1591del, NR_147921.1:n.1652del, NM_001352111.2:c.1539del, NM_001352111.1:c.1539del, NM_001352112.2:c.1446del, NM_001352112.1:c.1446del, NM_001352115.2:c.1107del, NM_001352115.1:c.1107del, NM_001352119.2:c.1095del, NM_001352119.1:c.1095del, NR_147917.2:n.2225del, NR_147917.1:n.2286del, NM_001352092.2:c.1407del, NM_001352092.1:c.1407del, NM_001352096.2:c.1395del, NM_001352096.1:c.1395del, NM_001352107.2:c.1095del, NM_001352107.1:c.1095del, NR_147918.2:n.1819del, NR_147918.1:n.1880del, NM_001352118.2:c.1095del, NM_001352118.1:c.1095del, NM_001352095.2:c.1395del, NM_001352095.1:c.1395del, NM_001352094.2:c.1395del, NM_001352094.1:c.1395del, NM_001352102.2:c.1107del, NM_001352102.1:c.1107del, NM_001352106.2:c.1095del, NM_001352106.1:c.1095del, NM_001352108.2:c.1551del, NM_001352108.1:c.1551del, NM_001352093.2:c.1407del, NM_001352093.1:c.1407del, NM_001352110.2:c.1539del, NM_001352110.1:c.1539del, NR_147920.2:n.1664del, NR_147920.1:n.1725del, NR_038241.2:n.1656del, NR_038241.1:n.1717del, NR_147924.2:n.1652del, NR_147924.1:n.1713del, NM_001352104.2:c.1095del, NM_001352104.1:c.1095del, NM_001352088.2:c.1608del, NM_001352088.1:c.1608del, NM_001352103.2:c.1095del, NM_001352103.1:c.1095del, NM_001352089.2:c.1551del, NM_001352089.1:c.1551del, NR_147919.2:n.1591del, NR_147919.1:n.1652del, NR_038242.2:n.1591del, NR_038242.1:n.1652del, NR_147926.2:n.1579del, NR_147926.1:n.1640del, NM_001352091.2:c.1446del, NM_001352091.1:c.1446del, NM_001352097.2:c.1317del, NM_001352097.1:c.1317del, NM_001352090.2:c.1449del, NM_001352090.1:c.1449del, NM_001352099.2:c.1137del, NM_001352099.1:c.1137del, NM_001352101.2:c.1107del, NM_001352101.1:c.1107del, NR_147925.2:n.1325del, NR_147925.1:n.1386del, NM_001352105.2:c.1095del, NM_001352105.1:c.1095del, NM_001352098.2:c.1266del, NM_001352098.1:c.1266del, NM_001352114.2:c.810del, NM_001352114.1:c.810del, XM_006719483.5:c.1107del, XM_006719483.4:c.1107del, XM_006719483.3:c.1107del, XM_006719483.2:c.1107del, XM_006719483.1:c.1107del, XM_011538550.4:c.1608del, XM_011538550.3:c.1608del, XM_011538550.2:c.1608del, XM_011538550.1:c.1608del, XM_011538548.4:c.1272del, XM_011538548.3:c.1272del, XM_011538548.2:c.1272del, XM_011538548.1:c.1272del, XM_011538545.3:c.1518del, XM_011538545.2:c.1518del, XM_011538545.1:c.1518del, XM_006719478.3:c.1461del, XM_006719478.2:c.1461del, XM_006719478.1:c.1461del, XM_017019592.3:c.1260del, XM_017019592.2:c.1260del, XM_017019592.1:c.1260del, XM_024449043.2:c.1107del, XM_024449043.1:c.1107del, XM_011538549.2:c.1608del, XM_011538549.1:c.1608del, XM_024449042.2:c.1596del, XM_024449042.1:c.1596del, XM_011538544.2:c.1596del, XM_011538544.1:c.1596del, XM_017019586.2:c.1506del, XM_017019586.1:c.1506del, XM_047429116.1:c.1446del, XM_047429112.1:c.1518del, XM_047429113.1:c.1449del, XM_047429108.1:c.1107del, XM_047429109.1:c.1107del, XM_047429115.1:c.1446del, XM_047429111.1:c.1095del, XM_047429110.1:c.1107del, XM_047429107.1:c.1107del, XM_047429106.1:c.1305del, XM_047429114.1:c.*7del, NP_060069.3:p.Cys514fs, NP_001339046.1:p.Cys370fs, NP_001339045.1:p.Cys370fs, NP_001339042.1:p.Cys466fs, NP_001339029.1:p.Cys533fs, NP_001339038.1:p.Cys518fs, NP_001339040.1:p.Cys514fs, NP_001339041.1:p.Cys483fs, NP_001339044.1:p.Cys370fs, NP_001339048.1:p.Cys366fs, NP_001339021.1:p.Cys470fs, NP_001339025.1:p.Cys466fs, NP_001339036.1:p.Cys366fs, NP_001339047.1:p.Cys366fs, NP_001339024.1:p.Cys466fs, NP_001339023.1:p.Cys466fs, NP_001339031.1:p.Cys370fs, NP_001339035.1:p.Cys366fs, NP_001339037.1:p.Cys518fs, NP_001339022.1:p.Cys470fs, NP_001339039.1:p.Cys514fs, NP_001339033.1:p.Cys366fs, NP_001339017.1:p.Cys537fs, NP_001339032.1:p.Cys366fs, NP_001339018.1:p.Cys518fs, NP_001339020.1:p.Cys483fs, NP_001339026.1:p.Cys440fs, NP_001339019.1:p.Cys484fs, NP_001339028.1:p.Cys380fs, NP_001339030.1:p.Cys370fs, NP_001339034.1:p.Cys366fs, NP_001339027.1:p.Cys423fs, NP_001339043.1:p.Cys271fs, XP_006719546.1:p.Cys370fs, XP_011536852.1:p.Cys537fs, XP_011536850.1:p.Cys425fs, XP_011536847.1:p.Cys507fs, XP_006719541.1:p.Cys488fs, XP_016875081.1:p.Cys421fs, XP_024304811.1:p.Cys370fs, XP_011536851.1:p.Cys537fs, XP_024304810.1:p.Cys533fs, XP_011536846.1:p.Cys533fs, XP_016875075.1:p.Cys503fs, XP_047285072.1:p.Cys483fs, XP_047285068.1:p.Cys507fs, XP_047285069.1:p.Cys484fs, XP_047285064.1:p.Cys370fs, XP_047285065.1:p.Cys370fs, XP_047285071.1:p.Cys483fs, XP_047285067.1:p.Cys366fs, XP_047285066.1:p.Cys370fs, XP_047285063.1:p.Cys370fs, XP_047285062.1:p.Cys436fs

Select item 147235524018.

rs1472355240 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:95300448 (GRCh38)
12:95694224 (GRCh37)
Canonical SPDI:: NC_000012.12:95300447:T:C
Gene:: VEZT (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.000043/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.95300448T>C, NC_000012.11:g.95694224T>C, NG_028987.2:g.87703T>C, NM_017599.4:c.2115T>C, NM_017599.3:c.2115T>C, NM_001352117.2:c.*1332T>C, NM_001352117.1:c.*1332T>C, NR_147923.2:n.3685T>C, NR_147923.1:n.3746T>C, NM_001352116.2:c.*1332T>C, NM_001352116.1:c.*1332T>C, NM_001352113.2:c.*1332T>C, NM_001352113.1:c.*1332T>C, NM_001352100.2:c.*1332T>C, NM_001352100.1:c.*1332T>C, NR_147922.2:n.3269T>C, NR_147922.1:n.3330T>C, NM_001352109.2:c.*1332T>C, NM_001352109.1:c.*1332T>C, NR_147921.2:n.3238T>C, NR_147921.1:n.3299T>C, NM_001352111.2:c.*1332T>C, NM_001352111.1:c.*1332T>C, NM_001352112.2:c.*1332T>C, NM_001352112.1:c.*1332T>C, NM_001352115.2:c.*1332T>C, NM_001352115.1:c.*1332T>C, NM_001352119.2:c.*1332T>C, NM_001352119.1:c.*1332T>C, NR_147917.2:n.2883T>C, NR_147917.1:n.2944T>C, NM_001352092.2:c.1983T>C, NM_001352092.1:c.1983T>C, NM_001352096.2:c.1971T>C, NM_001352096.1:c.1971T>C, NM_001352107.2:c.1671T>C, NM_001352107.1:c.1671T>C, NR_147918.2:n.2395T>C, NR_147918.1:n.2456T>C, NM_001352118.2:c.*331T>C, NM_001352118.1:c.*331T>C, NM_001352095.2:c.1971T>C, NM_001352095.1:c.1971T>C, NM_001352094.2:c.1971T>C, NM_001352094.1:c.1971T>C, NM_001352102.2:c.1683T>C, NM_001352102.1:c.1683T>C, NM_001352106.2:c.1671T>C, NM_001352106.1:c.1671T>C, NM_001352108.2:c.*331T>C, NM_001352108.1:c.*331T>C, NM_001352093.2:c.1983T>C, NM_001352093.1:c.1983T>C, NM_001352110.2:c.*331T>C, NM_001352110.1:c.*331T>C, NR_147920.2:n.2240T>C, NR_147920.1:n.2301T>C, NR_038241.2:n.2232T>C, NR_038241.1:n.2293T>C, NR_147924.2:n.2228T>C, NR_147924.1:n.2289T>C, NM_001352104.2:c.1671T>C, NM_001352104.1:c.1671T>C, NM_001352088.2:c.2184T>C, NM_001352088.1:c.2184T>C, NM_001352103.2:c.1671T>C, NM_001352103.1:c.1671T>C, NM_001352089.2:c.2127T>C, NM_001352089.1:c.2127T>C, NR_147919.2:n.2167T>C, NR_147919.1:n.2228T>C, NR_038242.2:n.2167T>C, NR_038242.1:n.2228T>C, NR_147926.2:n.2155T>C, NR_147926.1:n.2216T>C, NM_001352091.2:c.2022T>C, NM_001352091.1:c.2022T>C, NM_001352097.2:c.1893T>C, NM_001352097.1:c.1893T>C, NM_001352090.2:c.2025T>C, NM_001352090.1:c.2025T>C, NM_001352099.2:c.1713T>C, NM_001352099.1:c.1713T>C, NM_001352101.2:c.1683T>C, NM_001352101.1:c.1683T>C, NR_147925.2:n.1901T>C, NR_147925.1:n.1962T>C, NM_001352105.2:c.1671T>C, NM_001352105.1:c.1671T>C, NM_001352098.2:c.1842T>C, NM_001352098.1:c.1842T>C, NM_001352114.2:c.1386T>C, NM_001352114.1:c.1386T>C, XM_006719483.5:c.1683T>C, XM_006719483.4:c.1683T>C, XM_006719483.3:c.1683T>C, XM_006719483.2:c.1683T>C, XM_006719483.1:c.1683T>C, XM_011538550.4:c.*1332T>C, XM_011538550.3:c.*1332T>C, XM_011538550.2:c.*1332T>C, XM_011538548.4:c.1848T>C, XM_011538548.3:c.1848T>C, XM_011538548.2:c.1848T>C, XM_011538548.1:c.1848T>C, XM_011538545.3:c.2094T>C, XM_011538545.2:c.2094T>C, XM_011538545.1:c.2094T>C, XM_006719478.3:c.2037T>C, XM_006719478.2:c.2037T>C, XM_006719478.1:c.2037T>C, XM_017019592.3:c.1836T>C, XM_017019592.2:c.1836T>C, XM_017019592.1:c.1836T>C, XM_024449043.2:c.1683T>C, XM_024449043.1:c.1683T>C, XM_011538549.2:c.*331T>C, XM_011538549.1:c.*331T>C, XM_024449042.2:c.*331T>C, XM_024449042.1:c.*331T>C, XM_011538544.2:c.2172T>C, XM_011538544.1:c.2172T>C, XM_017019586.2:c.2082T>C, XM_017019586.1:c.2082T>C, XM_047429116.1:c.*1332T>C, XM_047429112.1:c.*1332T>C, XM_047429113.1:c.*1332T>C, XM_047429108.1:c.1683T>C, XM_047429109.1:c.1683T>C, XM_047429115.1:c.2022T>C, XM_047429111.1:c.1671T>C, XM_047429110.1:c.1683T>C, XM_047429107.1:c.1683T>C, XM_047429106.1:c.1881T>C

Select item 147234522919.

rs1472345229 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:95266566 (GRCh38)
12:95660342 (GRCh37)
Canonical SPDI:: NC_000012.12:95266565:C:T
Gene:: VEZT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.95266566C>T, NC_000012.11:g.95660342C>T, NG_028987.2:g.53821C>T, NM_017599.4:c.644C>T, NM_017599.3:c.644C>T, NM_001352117.2:c.200C>T, NM_001352117.1:c.200C>T, NR_147923.2:n.1147C>T, NR_147923.1:n.1208C>T, NM_001352116.2:c.200C>T, NM_001352116.1:c.200C>T, NM_001352113.2:c.500C>T, NM_001352113.1:c.500C>T, NM_001352100.2:c.701C>T, NM_001352100.1:c.701C>T, NR_147922.2:n.731C>T, NR_147922.1:n.792C>T, NM_001352109.2:c.644C>T, NM_001352109.1:c.644C>T, NR_147921.2:n.688C>T, NR_147921.1:n.749C>T, NM_001352111.2:c.644C>T, NM_001352111.1:c.644C>T, NM_001352112.2:c.551C>T, NM_001352112.1:c.551C>T, NM_001352115.2:c.200C>T, NM_001352115.1:c.200C>T, NM_001352119.2:c.200C>T, NM_001352119.1:c.200C>T, NR_147917.2:n.1322C>T, NR_147917.1:n.1383C>T, NM_001352092.2:c.500C>T, NM_001352092.1:c.500C>T, NM_001352096.2:c.500C>T, NM_001352096.1:c.500C>T, NM_001352107.2:c.200C>T, NM_001352107.1:c.200C>T, NR_147918.2:n.928C>T, NR_147918.1:n.989C>T, NM_001352118.2:c.200C>T, NM_001352118.1:c.200C>T, NM_001352095.2:c.500C>T, NM_001352095.1:c.500C>T, NM_001352094.2:c.500C>T, NM_001352094.1:c.500C>T, NM_001352102.2:c.200C>T, NM_001352102.1:c.200C>T, NM_001352106.2:c.200C>T, NM_001352106.1:c.200C>T, NM_001352108.2:c.644C>T, NM_001352108.1:c.644C>T, NM_001352093.2:c.500C>T, NM_001352093.1:c.500C>T, NM_001352110.2:c.644C>T, NM_001352110.1:c.644C>T, NR_147920.2:n.761C>T, NR_147920.1:n.822C>T, NR_038241.2:n.761C>T, NR_038241.1:n.822C>T, NR_147924.2:n.761C>T, NR_147924.1:n.822C>T, NM_001352104.2:c.200C>T, NM_001352104.1:c.200C>T, NM_001352088.2:c.701C>T, NM_001352088.1:c.701C>T, NM_001352103.2:c.200C>T, NM_001352103.1:c.200C>T, NM_001352089.2:c.644C>T, NM_001352089.1:c.644C>T, NR_147919.2:n.688C>T, NR_147919.1:n.749C>T, NR_038242.2:n.684C>T, NR_038242.1:n.745C>T, NR_147926.2:n.688C>T, NR_147926.1:n.749C>T, NM_001352091.2:c.551C>T, NM_001352091.1:c.551C>T, NM_001352097.2:c.410C>T, NM_001352097.1:c.410C>T, NM_001352090.2:c.554C>T, NM_001352090.1:c.554C>T, NM_001352099.2:c.230C>T, NM_001352099.1:c.230C>T, NM_001352101.2:c.200C>T, NM_001352101.1:c.200C>T, NR_147925.2:n.422C>T, NR_147925.1:n.483C>T, NM_001352105.2:c.200C>T, NM_001352105.1:c.200C>T, NM_001352098.2:c.644C>T, NM_001352098.1:c.644C>T, NM_001352114.2:c.200C>T, NM_001352114.1:c.200C>T, XM_006719483.5:c.200C>T, XM_006719483.4:c.200C>T, XM_006719483.3:c.200C>T, XM_006719483.2:c.200C>T, XM_006719483.1:c.200C>T, XM_011538550.4:c.701C>T, XM_011538550.3:c.701C>T, XM_011538550.2:c.701C>T, XM_011538550.1:c.701C>T, XM_011538548.4:c.365C>T, XM_011538548.3:c.365C>T, XM_011538548.2:c.365C>T, XM_011538548.1:c.365C>T, XM_011538545.3:c.611C>T, XM_011538545.2:c.611C>T, XM_011538545.1:c.611C>T, XM_006719478.3:c.554C>T, XM_006719478.2:c.554C>T, XM_006719478.1:c.554C>T, XM_017019592.3:c.365C>T, XM_017019592.2:c.365C>T, XM_017019592.1:c.365C>T, XM_024449043.2:c.200C>T, XM_024449043.1:c.200C>T, XM_011538549.2:c.701C>T, XM_011538549.1:c.701C>T, XM_024449042.2:c.701C>T, XM_024449042.1:c.701C>T, XM_011538544.2:c.701C>T, XM_011538544.1:c.701C>T, XM_017019586.2:c.611C>T, XM_017019586.1:c.611C>T, XM_047429116.1:c.551C>T, XM_047429112.1:c.611C>T, XM_047429113.1:c.554C>T, XM_047429108.1:c.200C>T, XM_047429109.1:c.200C>T, XM_047429115.1:c.551C>T, XM_047429111.1:c.200C>T, XM_047429110.1:c.200C>T, XM_047429107.1:c.200C>T, XM_047429106.1:c.410C>T, XM_047429114.1:c.701C>T, NP_060069.3:p.Thr215Ile, NP_001339046.1:p.Thr67Ile, NP_001339045.1:p.Thr67Ile, NP_001339042.1:p.Thr167Ile, NP_001339029.1:p.Thr234Ile, NP_001339038.1:p.Thr215Ile, NP_001339040.1:p.Thr215Ile, NP_001339041.1:p.Thr184Ile, NP_001339044.1:p.Thr67Ile, NP_001339048.1:p.Thr67Ile, NP_001339021.1:p.Thr167Ile, NP_001339025.1:p.Thr167Ile, NP_001339036.1:p.Thr67Ile, NP_001339047.1:p.Thr67Ile, NP_001339024.1:p.Thr167Ile, NP_001339023.1:p.Thr167Ile, NP_001339031.1:p.Thr67Ile, NP_001339035.1:p.Thr67Ile, NP_001339037.1:p.Thr215Ile, NP_001339022.1:p.Thr167Ile, NP_001339039.1:p.Thr215Ile, NP_001339033.1:p.Thr67Ile, NP_001339017.1:p.Thr234Ile, NP_001339032.1:p.Thr67Ile, NP_001339018.1:p.Thr215Ile, NP_001339020.1:p.Thr184Ile, NP_001339026.1:p.Thr137Ile, NP_001339019.1:p.Thr185Ile, NP_001339028.1:p.Thr77Ile, NP_001339030.1:p.Thr67Ile, NP_001339034.1:p.Thr67Ile, NP_001339027.1:p.Thr215Ile, NP_001339043.1:p.Thr67Ile, XP_006719546.1:p.Thr67Ile, XP_011536852.1:p.Thr234Ile, XP_011536850.1:p.Thr122Ile, XP_011536847.1:p.Thr204Ile, XP_006719541.1:p.Thr185Ile, XP_016875081.1:p.Thr122Ile, XP_024304811.1:p.Thr67Ile, XP_011536851.1:p.Thr234Ile, XP_024304810.1:p.Thr234Ile, XP_011536846.1:p.Thr234Ile, XP_016875075.1:p.Thr204Ile, XP_047285072.1:p.Thr184Ile, XP_047285068.1:p.Thr204Ile, XP_047285069.1:p.Thr185Ile, XP_047285064.1:p.Thr67Ile, XP_047285065.1:p.Thr67Ile, XP_047285071.1:p.Thr184Ile, XP_047285067.1:p.Thr67Ile, XP_047285066.1:p.Thr67Ile, XP_047285063.1:p.Thr67Ile, XP_047285062.1:p.Thr137Ile, XP_047285070.1:p.Thr234Ile

Select item 147203070720.

rs1472030707 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:95300261 (GRCh38)
12:95694037 (GRCh37)
Canonical SPDI:: NC_000012.12:95300260:A:G,NC_000012.12:95300260:A:T
Gene:: VEZT (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000049/2 (ALFA)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.95300261A>G, NC_000012.12:g.95300261A>T, NC_000012.11:g.95694037A>G, NC_000012.11:g.95694037A>T, NG_028987.2:g.87516A>G, NG_028987.2:g.87516A>T, NM_017599.4:c.1928A>G, NM_017599.4:c.1928A>T, NM_017599.3:c.1928A>G, NM_017599.3:c.1928A>T, NM_001352117.2:c.*1145A>G, NM_001352117.2:c.*1145A>T, NM_001352117.1:c.*1145A>G, NM_001352117.1:c.*1145A>T, NR_147923.2:n.3498A>G, NR_147923.2:n.3498A>T, NR_147923.1:n.3559A>G, NR_147923.1:n.3559A>T, NM_001352116.2:c.*1145A>G, NM_001352116.2:c.*1145A>T, NM_001352116.1:c.*1145A>G, NM_001352116.1:c.*1145A>T, NM_001352113.2:c.*1145A>G, NM_001352113.2:c.*1145A>T, NM_001352113.1:c.*1145A>G, NM_001352113.1:c.*1145A>T, NM_001352100.2:c.*1145A>G, NM_001352100.2:c.*1145A>T, NM_001352100.1:c.*1145A>G, NM_001352100.1:c.*1145A>T, NR_147922.2:n.3082A>G, NR_147922.2:n.3082A>T, NR_147922.1:n.3143A>G, NR_147922.1:n.3143A>T, NM_001352109.2:c.*1145A>G, NM_001352109.2:c.*1145A>T, NM_001352109.1:c.*1145A>G, NM_001352109.1:c.*1145A>T, NR_147921.2:n.3051A>G, NR_147921.2:n.3051A>T, NR_147921.1:n.3112A>G, NR_147921.1:n.3112A>T, NM_001352111.2:c.*1145A>G, NM_001352111.2:c.*1145A>T, NM_001352111.1:c.*1145A>G, NM_001352111.1:c.*1145A>T, NM_001352112.2:c.*1145A>G, NM_001352112.2:c.*1145A>T, NM_001352112.1:c.*1145A>G, NM_001352112.1:c.*1145A>T, NM_001352115.2:c.*1145A>G, NM_001352115.2:c.*1145A>T, NM_001352115.1:c.*1145A>G, NM_001352115.1:c.*1145A>T, NM_001352119.2:c.*1145A>G, NM_001352119.2:c.*1145A>T, NM_001352119.1:c.*1145A>G, NM_001352119.1:c.*1145A>T, NR_147917.2:n.2696A>G, NR_147917.2:n.2696A>T, NR_147917.1:n.2757A>G, NR_147917.1:n.2757A>T, NM_001352092.2:c.1796A>G, NM_001352092.2:c.1796A>T, NM_001352092.1:c.1796A>G, NM_001352092.1:c.1796A>T, NM_001352096.2:c.1784A>G, NM_001352096.2:c.1784A>T, NM_001352096.1:c.1784A>G, NM_001352096.1:c.1784A>T, NM_001352107.2:c.1484A>G, NM_001352107.2:c.1484A>T, NM_001352107.1:c.1484A>G, NM_001352107.1:c.1484A>T, NR_147918.2:n.2208A>G, NR_147918.2:n.2208A>T, NR_147918.1:n.2269A>G, NR_147918.1:n.2269A>T, NM_001352118.2:c.*144A>G, NM_001352118.2:c.*144A>T, NM_001352118.1:c.*144A>G, NM_001352118.1:c.*144A>T, NM_001352095.2:c.1784A>G, NM_001352095.2:c.1784A>T, NM_001352095.1:c.1784A>G, NM_001352095.1:c.1784A>T, NM_001352094.2:c.1784A>G, NM_001352094.2:c.1784A>T, NM_001352094.1:c.1784A>G, NM_001352094.1:c.1784A>T, NM_001352102.2:c.1496A>G, NM_001352102.2:c.1496A>T, NM_001352102.1:c.1496A>G, NM_001352102.1:c.1496A>T, NM_001352106.2:c.1484A>G, NM_001352106.2:c.1484A>T, NM_001352106.1:c.1484A>G, NM_001352106.1:c.1484A>T, NM_001352108.2:c.*144A>G, NM_001352108.2:c.*144A>T, NM_001352108.1:c.*144A>G, NM_001352108.1:c.*144A>T, NM_001352093.2:c.1796A>G, NM_001352093.2:c.1796A>T, NM_001352093.1:c.1796A>G, NM_001352093.1:c.1796A>T, NM_001352110.2:c.*144A>G, NM_001352110.2:c.*144A>T, NM_001352110.1:c.*144A>G, NM_001352110.1:c.*144A>T, NR_147920.2:n.2053A>G, NR_147920.2:n.2053A>T, NR_147920.1:n.2114A>G, NR_147920.1:n.2114A>T, NR_038241.2:n.2045A>G, NR_038241.2:n.2045A>T, NR_038241.1:n.2106A>G, NR_038241.1:n.2106A>T, NR_147924.2:n.2041A>G, NR_147924.2:n.2041A>T, NR_147924.1:n.2102A>G, NR_147924.1:n.2102A>T, NM_001352104.2:c.1484A>G, NM_001352104.2:c.1484A>T, NM_001352104.1:c.1484A>G, NM_001352104.1:c.1484A>T, NM_001352088.2:c.1997A>G, NM_001352088.2:c.1997A>T, NM_001352088.1:c.1997A>G, NM_001352088.1:c.1997A>T, NM_001352103.2:c.1484A>G, NM_001352103.2:c.1484A>T, NM_001352103.1:c.1484A>G, NM_001352103.1:c.1484A>T, NM_001352089.2:c.1940A>G, NM_001352089.2:c.1940A>T, NM_001352089.1:c.1940A>G, NM_001352089.1:c.1940A>T, NR_147919.2:n.1980A>G, NR_147919.2:n.1980A>T, NR_147919.1:n.2041A>G, NR_147919.1:n.2041A>T, NR_038242.2:n.1980A>G, NR_038242.2:n.1980A>T, NR_038242.1:n.2041A>G, NR_038242.1:n.2041A>T, NR_147926.2:n.1968A>G, NR_147926.2:n.1968A>T, NR_147926.1:n.2029A>G, NR_147926.1:n.2029A>T, NM_001352091.2:c.1835A>G, NM_001352091.2:c.1835A>T, NM_001352091.1:c.1835A>G, NM_001352091.1:c.1835A>T, NM_001352097.2:c.1706A>G, NM_001352097.2:c.1706A>T, NM_001352097.1:c.1706A>G, NM_001352097.1:c.1706A>T, NM_001352090.2:c.1838A>G, NM_001352090.2:c.1838A>T, NM_001352090.1:c.1838A>G, NM_001352090.1:c.1838A>T, NM_001352099.2:c.1526A>G, NM_001352099.2:c.1526A>T, NM_001352099.1:c.1526A>G, NM_001352099.1:c.1526A>T, NM_001352101.2:c.1496A>G, NM_001352101.2:c.1496A>T, NM_001352101.1:c.1496A>G, NM_001352101.1:c.1496A>T, NR_147925.2:n.1714A>G, NR_147925.2:n.1714A>T, NR_147925.1:n.1775A>G, NR_147925.1:n.1775A>T, NM_001352105.2:c.1484A>G, NM_001352105.2:c.1484A>T, NM_001352105.1:c.1484A>G, NM_001352105.1:c.1484A>T, NM_001352098.2:c.1655A>G, NM_001352098.2:c.1655A>T, NM_001352098.1:c.1655A>G, NM_001352098.1:c.1655A>T, NM_001352114.2:c.1199A>G, NM_001352114.2:c.1199A>T, NM_001352114.1:c.1199A>G, NM_001352114.1:c.1199A>T, XM_006719483.5:c.1496A>G, XM_006719483.5:c.1496A>T, XM_006719483.4:c.1496A>G, XM_006719483.4:c.1496A>T, XM_006719483.3:c.1496A>G, XM_006719483.3:c.1496A>T, XM_006719483.2:c.1496A>G, XM_006719483.2:c.1496A>T, XM_006719483.1:c.1496A>G, XM_006719483.1:c.1496A>T, XM_011538550.4:c.*1145A>G, XM_011538550.4:c.*1145A>T, XM_011538550.3:c.*1145A>G, XM_011538550.3:c.*1145A>T, XM_011538550.2:c.*1145A>G, XM_011538550.2:c.*1145A>T, XM_011538548.4:c.1661A>G, XM_011538548.4:c.1661A>T, XM_011538548.3:c.1661A>G, XM_011538548.3:c.1661A>T, XM_011538548.2:c.1661A>G, XM_011538548.2:c.1661A>T, XM_011538548.1:c.1661A>G, XM_011538548.1:c.1661A>T, XM_011538545.3:c.1907A>G, XM_011538545.3:c.1907A>T, XM_011538545.2:c.1907A>G, XM_011538545.2:c.1907A>T, XM_011538545.1:c.1907A>G, XM_011538545.1:c.1907A>T, XM_006719478.3:c.1850A>G, XM_006719478.3:c.1850A>T, XM_006719478.2:c.1850A>G, XM_006719478.2:c.1850A>T, XM_006719478.1:c.1850A>G, XM_006719478.1:c.1850A>T, XM_017019592.3:c.1649A>G, XM_017019592.3:c.1649A>T, XM_017019592.2:c.1649A>G, XM_017019592.2:c.1649A>T, XM_017019592.1:c.1649A>G, XM_017019592.1:c.1649A>T, XM_024449043.2:c.1496A>G, XM_024449043.2:c.1496A>T, XM_024449043.1:c.1496A>G, XM_024449043.1:c.1496A>T, XM_011538549.2:c.*144A>G, XM_011538549.2:c.*144A>T, XM_011538549.1:c.*144A>G, XM_011538549.1:c.*144A>T, XM_024449042.2:c.*144A>G, XM_024449042.2:c.*144A>T, XM_024449042.1:c.*144A>G, XM_024449042.1:c.*144A>T, XM_011538544.2:c.1985A>G, XM_011538544.2:c.1985A>T, XM_011538544.1:c.1985A>G, XM_011538544.1:c.1985A>T, XM_017019586.2:c.1895A>G, XM_017019586.2:c.1895A>T, XM_017019586.1:c.1895A>G, XM_017019586.1:c.1895A>T, XM_047429116.1:c.*1145A>G, XM_047429116.1:c.*1145A>T, XM_047429112.1:c.*1145A>G, XM_047429112.1:c.*1145A>T, XM_047429113.1:c.*1145A>G, XM_047429113.1:c.*1145A>T, XM_047429108.1:c.1496A>G, XM_047429108.1:c.1496A>T, XM_047429109.1:c.1496A>G, XM_047429109.1:c.1496A>T, XM_047429115.1:c.1835A>G, XM_047429115.1:c.1835A>T, XM_047429111.1:c.1484A>G, XM_047429111.1:c.1484A>T, XM_047429110.1:c.1496A>G, XM_047429110.1:c.1496A>T, XM_047429107.1:c.1496A>G, XM_047429107.1:c.1496A>T, XM_047429106.1:c.1694A>G, XM_047429106.1:c.1694A>T, NP_060069.3:p.Asp643Gly, NP_060069.3:p.Asp643Val, NP_001339021.1:p.Asp599Gly, NP_001339021.1:p.Asp599Val, NP_001339025.1:p.Asp595Gly, NP_001339025.1:p.Asp595Val, NP_001339036.1:p.Asp495Gly, NP_001339036.1:p.Asp495Val, NP_001339024.1:p.Asp595Gly, NP_001339024.1:p.Asp595Val, NP_001339023.1:p.Asp595Gly, NP_001339023.1:p.Asp595Val, NP_001339031.1:p.Asp499Gly, NP_001339031.1:p.Asp499Val, NP_001339035.1:p.Asp495Gly, NP_001339035.1:p.Asp495Val, NP_001339022.1:p.Asp599Gly, NP_001339022.1:p.Asp599Val, NP_001339033.1:p.Asp495Gly, NP_001339033.1:p.Asp495Val, NP_001339017.1:p.Asp666Gly, NP_001339017.1:p.Asp666Val, NP_001339032.1:p.Asp495Gly, NP_001339032.1:p.Asp495Val, NP_001339018.1:p.Asp647Gly, NP_001339018.1:p.Asp647Val, NP_001339020.1:p.Asp612Gly, NP_001339020.1:p.Asp612Val, NP_001339026.1:p.Asp569Gly, NP_001339026.1:p.Asp569Val, NP_001339019.1:p.Asp613Gly, NP_001339019.1:p.Asp613Val, NP_001339028.1:p.Asp509Gly, NP_001339028.1:p.Asp509Val, NP_001339030.1:p.Asp499Gly, NP_001339030.1:p.Asp499Val, NP_001339034.1:p.Asp495Gly, NP_001339034.1:p.Asp495Val, NP_001339027.1:p.Asp552Gly, NP_001339027.1:p.Asp552Val, NP_001339043.1:p.Asp400Gly, NP_001339043.1:p.Asp400Val, XP_006719546.1:p.Asp499Gly, XP_006719546.1:p.Asp499Val, XP_011536850.1:p.Asp554Gly, XP_011536850.1:p.Asp554Val, XP_011536847.1:p.Asp636Gly, XP_011536847.1:p.Asp636Val, XP_006719541.1:p.Asp617Gly, XP_006719541.1:p.Asp617Val, XP_016875081.1:p.Asp550Gly, XP_016875081.1:p.Asp550Val, XP_024304811.1:p.Asp499Gly, XP_024304811.1:p.Asp499Val, XP_011536846.1:p.Asp662Gly, XP_011536846.1:p.Asp662Val, XP_016875075.1:p.Asp632Gly, XP_016875075.1:p.Asp632Val, XP_047285064.1:p.Asp499Gly, XP_047285064.1:p.Asp499Val, XP_047285065.1:p.Asp499Gly, XP_047285065.1:p.Asp499Val, XP_047285071.1:p.Asp612Gly, XP_047285071.1:p.Asp612Val, XP_047285067.1:p.Asp495Gly, XP_047285067.1:p.Asp495Val, XP_047285066.1:p.Asp499Gly, XP_047285066.1:p.Asp499Val, XP_047285063.1:p.Asp499Gly, XP_047285063.1:p.Asp499Val, XP_047285062.1:p.Asp565Gly, XP_047285062.1:p.Asp565Val

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dbSNP

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