SNP Links for Protein (Select 1034561524) - SNP

Select item 14903340181.

rs1490334018 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:151566223 (GRCh38)
1:151538699 (GRCh37)
Canonical SPDI:: NC_000001.11:151566222:C:T
Gene:: TUFT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.151566223C>T, NC_000001.10:g.151538699C>T, XM_017002223.3:c.418C>T, XM_017002223.2:c.418C>T, XM_017002223.1:c.418C>T, NM_020127.3:c.475C>T, NM_020127.2:c.475C>T, XM_011509961.3:c.298C>T, XM_011509961.2:c.298C>T, XM_011509961.1:c.298C>T, XM_017002224.2:c.343C>T, XM_017002224.1:c.343C>T, NM_001301317.2:c.532C>T, NM_001301317.1:c.532C>T, NM_001126337.2:c.400C>T, NM_001126337.1:c.400C>T, XP_016857712.1:p.Pro140Ser, NP_064512.1:p.Pro159Ser, XP_011508263.1:p.Pro100Ser, XP_016857713.1:p.Pro115Ser, NP_001288246.1:p.Pro178Ser, NP_001119809.1:p.Pro134Ser

Select item 14795345302.

rs1479534530 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:151563953 (GRCh38)
1:151536429 (GRCh37)
Canonical SPDI:: NC_000001.11:151563952:T:C
Gene:: TUFT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.151563953T>C, NC_000001.10:g.151536429T>C, XM_017002223.3:c.230T>C, XM_017002223.2:c.230T>C, XM_017002223.1:c.230T>C, NM_020127.3:c.287T>C, NM_020127.2:c.287T>C, XM_011509961.3:c.110T>C, XM_011509961.2:c.110T>C, XM_011509961.1:c.110T>C, XM_017002224.2:c.155T>C, XM_017002224.1:c.155T>C, NM_001301317.2:c.344T>C, NM_001301317.1:c.344T>C, NM_001126337.2:c.212T>C, NM_001126337.1:c.212T>C, XP_016857712.1:p.Ile77Thr, NP_064512.1:p.Ile96Thr, XP_011508263.1:p.Ile37Thr, XP_016857713.1:p.Ile52Thr, NP_001288246.1:p.Ile115Thr, NP_001119809.1:p.Ile71Thr

Select item 14787926483.

rs1478792648 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:151578753 (GRCh38)
1:151551229 (GRCh37)
Canonical SPDI:: NC_000001.11:151578752:T:A
Gene:: TUFT1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.151578753T>A, NC_000001.10:g.151551229T>A, XM_017002223.3:c.794T>A, XM_017002223.2:c.794T>A, XM_017002223.1:c.794T>A, NM_020127.3:c.851T>A, NM_020127.2:c.851T>A, XM_011509961.3:c.674T>A, XM_011509961.2:c.674T>A, XM_011509961.1:c.674T>A, XM_017002224.2:c.719T>A, XM_017002224.1:c.719T>A, NM_001301317.2:c.908T>A, NM_001301317.1:c.908T>A, NM_001126337.2:c.776T>A, NM_001126337.1:c.776T>A, XP_016857712.1:p.Leu265Ter, NP_064512.1:p.Leu284Ter, XP_011508263.1:p.Leu225Ter, XP_016857713.1:p.Leu240Ter, NP_001288246.1:p.Leu303Ter, NP_001119809.1:p.Leu259Ter

Select item 14760402284.

rs1476040228 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:151580986 (GRCh38)
1:151553462 (GRCh37)
Canonical SPDI:: NC_000001.11:151580985:A:G
Gene:: TUFT1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.151580986A>G, NC_000001.10:g.151553462A>G, XM_017002223.3:c.996A>G, XM_017002223.2:c.996A>G, XM_017002223.1:c.996A>G, NM_020127.3:c.1053A>G, NM_020127.2:c.1053A>G, XM_011509961.3:c.876A>G, XM_011509961.2:c.876A>G, XM_011509961.1:c.876A>G, XM_017002224.2:c.921A>G, XM_017002224.1:c.921A>G, NM_001301317.2:c.1110A>G, NM_001301317.1:c.1110A>G, NM_001126337.2:c.978A>G, NM_001126337.1:c.978A>G

Select item 14755329775.

rs1475532977 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:151579714 (GRCh38)
1:151552190 (GRCh37)
Canonical SPDI:: NC_000001.11:151579713:C:T
Gene:: TUFT1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.151579714C>T, NC_000001.10:g.151552190C>T, XM_017002223.3:c.933C>T, XM_017002223.2:c.933C>T, XM_017002223.1:c.933C>T, NM_020127.3:c.990C>T, NM_020127.2:c.990C>T, XM_011509961.3:c.813C>T, XM_011509961.2:c.813C>T, XM_011509961.1:c.813C>T, XM_017002224.2:c.858C>T, XM_017002224.1:c.858C>T, NM_001301317.2:c.1047C>T, NM_001301317.1:c.1047C>T, NM_001126337.2:c.915C>T, NM_001126337.1:c.915C>T

Select item 14668822116.

rs1466882211 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:151562669 (GRCh38)
1:151535145 (GRCh37)
Canonical SPDI:: NC_000001.11:151562668:C:A,NC_000001.11:151562668:C:T
Gene:: TUFT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.151562669C>A, NC_000001.11:g.151562669C>T, NC_000001.10:g.151535145C>A, NC_000001.10:g.151535145C>T, XM_017002223.3:c.163C>A, XM_017002223.3:c.163C>T, XM_017002223.2:c.163C>A, XM_017002223.2:c.163C>T, XM_017002223.1:c.163C>A, XM_017002223.1:c.163C>T, NM_020127.3:c.220C>A, NM_020127.3:c.220C>T, NM_020127.2:c.220C>A, NM_020127.2:c.220C>T, XM_017002224.2:c.88C>A, XM_017002224.2:c.88C>T, XM_017002224.1:c.88C>A, XM_017002224.1:c.88C>T, NM_001301317.2:c.277C>A, NM_001301317.2:c.277C>T, NM_001301317.1:c.277C>A, NM_001301317.1:c.277C>T, NM_001126337.2:c.145C>A, NM_001126337.2:c.145C>T, NM_001126337.1:c.145C>A, NM_001126337.1:c.145C>T, XP_016857712.1:p.His55Asn, XP_016857712.1:p.His55Tyr, NP_064512.1:p.His74Asn, NP_064512.1:p.His74Tyr, XP_016857713.1:p.His30Asn, XP_016857713.1:p.His30Tyr, NP_001288246.1:p.His93Asn, NP_001288246.1:p.His93Tyr, NP_001119809.1:p.His49Asn, NP_001119809.1:p.His49Tyr

Select item 14666978787.

rs1466697878 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:151578764 (GRCh38)
1:151551240 (GRCh37)
Canonical SPDI:: NC_000001.11:151578763:A:T
Gene:: TUFT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.151578764A>T, NC_000001.10:g.151551240A>T, XM_017002223.3:c.805A>T, XM_017002223.2:c.805A>T, XM_017002223.1:c.805A>T, NM_020127.3:c.862A>T, NM_020127.2:c.862A>T, XM_011509961.3:c.685A>T, XM_011509961.2:c.685A>T, XM_011509961.1:c.685A>T, XM_017002224.2:c.730A>T, XM_017002224.1:c.730A>T, NM_001301317.2:c.919A>T, NM_001301317.1:c.919A>T, NM_001126337.2:c.787A>T, NM_001126337.1:c.787A>T, XP_016857712.1:p.Ile269Phe, NP_064512.1:p.Ile288Phe, XP_011508263.1:p.Ile229Phe, XP_016857713.1:p.Ile244Phe, NP_001288246.1:p.Ile307Phe, NP_001119809.1:p.Ile263Phe

Select item 14621422348.

rs1462142234 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:151578794 (GRCh38)
1:151551270 (GRCh37)
Canonical SPDI:: NC_000001.11:151578793:C:G
Gene:: TUFT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.151578794C>G, NC_000001.10:g.151551270C>G, XM_017002223.3:c.835C>G, XM_017002223.2:c.835C>G, XM_017002223.1:c.835C>G, NM_020127.3:c.892C>G, NM_020127.2:c.892C>G, XM_011509961.3:c.715C>G, XM_011509961.2:c.715C>G, XM_011509961.1:c.715C>G, XM_017002224.2:c.760C>G, XM_017002224.1:c.760C>G, NM_001301317.2:c.949C>G, NM_001301317.1:c.949C>G, NM_001126337.2:c.817C>G, NM_001126337.1:c.817C>G, XP_016857712.1:p.Gln279Glu, NP_064512.1:p.Gln298Glu, XP_011508263.1:p.Gln239Glu, XP_016857713.1:p.Gln254Glu, NP_001288246.1:p.Gln317Glu, NP_001119809.1:p.Gln273Glu

Select item 14576178109.

rs1457617810 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:151569750 (GRCh38)
1:151542226 (GRCh37)
Canonical SPDI:: NC_000001.11:151569749:T:A
Gene:: TUFT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.151569750T>A, NC_000001.10:g.151542226T>A, XM_017002223.3:c.517T>A, XM_017002223.2:c.517T>A, XM_017002223.1:c.517T>A, NM_020127.3:c.574T>A, NM_020127.2:c.574T>A, XM_011509961.3:c.397T>A, XM_011509961.2:c.397T>A, XM_011509961.1:c.397T>A, XM_017002224.2:c.442T>A, XM_017002224.1:c.442T>A, NM_001301317.2:c.631T>A, NM_001301317.1:c.631T>A, NM_001126337.2:c.499T>A, NM_001126337.1:c.499T>A, XP_016857712.1:p.Ser173Thr, NP_064512.1:p.Ser192Thr, XP_011508263.1:p.Ser133Thr, XP_016857713.1:p.Ser148Thr, NP_001288246.1:p.Ser211Thr, NP_001119809.1:p.Ser167Thr

Select item 145682093310.

rs1456820933 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:151562603 (GRCh38)
1:151535079 (GRCh37)
Canonical SPDI:: NC_000001.11:151562602:G:A
Gene:: TUFT1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.151562603G>A, NC_000001.10:g.151535079G>A, XM_017002223.3:c.97G>A, XM_017002223.2:c.97G>A, XM_017002223.1:c.97G>A, NM_020127.3:c.154G>A, NM_020127.2:c.154G>A, XM_017002224.2:c.22G>A, XM_017002224.1:c.22G>A, NM_001301317.2:c.211G>A, NM_001301317.1:c.211G>A, NM_001126337.2:c.79G>A, NM_001126337.1:c.79G>A, XP_016857712.1:p.Ala33Thr, NP_064512.1:p.Ala52Thr, XP_016857713.1:p.Ala8Thr, NP_001288246.1:p.Ala71Thr, NP_001119809.1:p.Ala27Thr

Select item 145515984411.

rs1455159844 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:151581038 (GRCh38)
1:151553514 (GRCh37)
Canonical SPDI:: NC_000001.11:151581037:G:A
Gene:: TUFT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.151581038G>A, NC_000001.10:g.151553514G>A, XM_017002223.3:c.1048G>A, XM_017002223.2:c.1048G>A, XM_017002223.1:c.1048G>A, NM_020127.3:c.1105G>A, NM_020127.2:c.1105G>A, XM_011509961.3:c.928G>A, XM_011509961.2:c.928G>A, XM_011509961.1:c.928G>A, XM_017002224.2:c.973G>A, XM_017002224.1:c.973G>A, NM_001301317.2:c.1162G>A, NM_001301317.1:c.1162G>A, NM_001126337.2:c.1030G>A, NM_001126337.1:c.1030G>A, XP_016857712.1:p.Gly350Ser, NP_064512.1:p.Gly369Ser, XP_011508263.1:p.Gly310Ser, XP_016857713.1:p.Gly325Ser, NP_001288246.1:p.Gly388Ser, NP_001119809.1:p.Gly344Ser

Select item 145039686912.

rs1450396869 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:151569713 (GRCh38)
1:151542189 (GRCh37)
Canonical SPDI:: NC_000001.11:151569712:G:A,NC_000001.11:151569712:G:T
Gene:: TUFT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000014/2 (GnomAD)
T=0.000071/1 (TOMMO)
HGVS:: NC_000001.11:g.151569713G>A, NC_000001.11:g.151569713G>T, NC_000001.10:g.151542189G>A, NC_000001.10:g.151542189G>T, XM_017002223.3:c.480G>A, XM_017002223.3:c.480G>T, XM_017002223.2:c.480G>A, XM_017002223.2:c.480G>T, XM_017002223.1:c.480G>A, XM_017002223.1:c.480G>T, NM_020127.3:c.537G>A, NM_020127.3:c.537G>T, NM_020127.2:c.537G>A, NM_020127.2:c.537G>T, XM_011509961.3:c.360G>A, XM_011509961.3:c.360G>T, XM_011509961.2:c.360G>A, XM_011509961.2:c.360G>T, XM_011509961.1:c.360G>A, XM_011509961.1:c.360G>T, XM_017002224.2:c.405G>A, XM_017002224.2:c.405G>T, XM_017002224.1:c.405G>A, XM_017002224.1:c.405G>T, NM_001301317.2:c.594G>A, NM_001301317.2:c.594G>T, NM_001301317.1:c.594G>A, NM_001301317.1:c.594G>T, NM_001126337.2:c.462G>A, NM_001126337.2:c.462G>T, NM_001126337.1:c.462G>A, NM_001126337.1:c.462G>T, XP_016857712.1:p.Leu160Phe, NP_064512.1:p.Leu179Phe, XP_011508263.1:p.Leu120Phe, XP_016857713.1:p.Leu135Phe, NP_001288246.1:p.Leu198Phe, NP_001119809.1:p.Leu154Phe

Select item 145000079013.

rs1450000790 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:151574334 (GRCh38)
1:151546810 (GRCh37)
Canonical SPDI:: NC_000001.11:151574333:A:G
Gene:: TUFT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000056/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.151574334A>G, NC_000001.10:g.151546810A>G, XM_017002223.3:c.602A>G, XM_017002223.2:c.602A>G, XM_017002223.1:c.602A>G, NM_020127.3:c.659A>G, NM_020127.2:c.659A>G, XM_011509961.3:c.482A>G, XM_011509961.2:c.482A>G, XM_011509961.1:c.482A>G, XM_017002224.2:c.527A>G, XM_017002224.1:c.527A>G, NM_001301317.2:c.716A>G, NM_001301317.1:c.716A>G, NM_001126337.2:c.584A>G, NM_001126337.1:c.584A>G, XP_016857712.1:p.Asp201Gly, NP_064512.1:p.Asp220Gly, XP_011508263.1:p.Asp161Gly, XP_016857713.1:p.Asp176Gly, NP_001288246.1:p.Asp239Gly, NP_001119809.1:p.Asp195Gly

Select item 144963547314.

rs1449635473 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:151580954 (GRCh38)
1:151553430 (GRCh37)
Canonical SPDI:: NC_000001.11:151580953:C:T
Gene:: TUFT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.151580954C>T, NC_000001.10:g.151553430C>T, XM_017002223.3:c.964C>T, XM_017002223.2:c.964C>T, XM_017002223.1:c.964C>T, NM_020127.3:c.1021C>T, NM_020127.2:c.1021C>T, XM_011509961.3:c.844C>T, XM_011509961.2:c.844C>T, XM_011509961.1:c.844C>T, XM_017002224.2:c.889C>T, XM_017002224.1:c.889C>T, NM_001301317.2:c.1078C>T, NM_001301317.1:c.1078C>T, NM_001126337.2:c.946C>T, NM_001126337.1:c.946C>T, XP_016857712.1:p.His322Tyr, NP_064512.1:p.His341Tyr, XP_011508263.1:p.His282Tyr, XP_016857713.1:p.His297Tyr, NP_001288246.1:p.His360Tyr, NP_001119809.1:p.His316Tyr

Select item 144910542415.

rs1449105424 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:151574353 (GRCh38)
1:151546829 (GRCh37)
Canonical SPDI:: NC_000001.11:151574352:G:T
Gene:: TUFT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.151574353G>T, NC_000001.10:g.151546829G>T, XM_017002223.3:c.621G>T, XM_017002223.2:c.621G>T, XM_017002223.1:c.621G>T, NM_020127.3:c.678G>T, NM_020127.2:c.678G>T, XM_011509961.3:c.501G>T, XM_011509961.2:c.501G>T, XM_011509961.1:c.501G>T, XM_017002224.2:c.546G>T, XM_017002224.1:c.546G>T, NM_001301317.2:c.735G>T, NM_001301317.1:c.735G>T, NM_001126337.2:c.603G>T, NM_001126337.1:c.603G>T, XP_016857712.1:p.Glu207Asp, NP_064512.1:p.Glu226Asp, XP_011508263.1:p.Glu167Asp, XP_016857713.1:p.Glu182Asp, NP_001288246.1:p.Glu245Asp, NP_001119809.1:p.Glu201Asp

Select item 144636277216.

rs1446362772 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:151569731 (GRCh38)
1:151542207 (GRCh37)
Canonical SPDI:: NC_000001.11:151569730:G:A
Gene:: TUFT1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.151569731G>A, NC_000001.10:g.151542207G>A, XM_017002223.3:c.498G>A, XM_017002223.2:c.498G>A, XM_017002223.1:c.498G>A, NM_020127.3:c.555G>A, NM_020127.2:c.555G>A, XM_011509961.3:c.378G>A, XM_011509961.2:c.378G>A, XM_011509961.1:c.378G>A, XM_017002224.2:c.423G>A, XM_017002224.1:c.423G>A, NM_001301317.2:c.612G>A, NM_001301317.1:c.612G>A, NM_001126337.2:c.480G>A, NM_001126337.1:c.480G>A

Select item 143797592417.

rs1437975924 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:151579665 (GRCh38)
1:151552141 (GRCh37)
Canonical SPDI:: NC_000001.11:151579664:C:T
Gene:: TUFT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.151579665C>T, NC_000001.10:g.151552141C>T, XM_017002223.3:c.884C>T, XM_017002223.2:c.884C>T, XM_017002223.1:c.884C>T, NM_020127.3:c.941C>T, NM_020127.2:c.941C>T, XM_011509961.3:c.764C>T, XM_011509961.2:c.764C>T, XM_011509961.1:c.764C>T, XM_017002224.2:c.809C>T, XM_017002224.1:c.809C>T, NM_001301317.2:c.998C>T, NM_001301317.1:c.998C>T, NM_001126337.2:c.866C>T, NM_001126337.1:c.866C>T, XP_016857712.1:p.Ala295Val, NP_064512.1:p.Ala314Val, XP_011508263.1:p.Ala255Val, XP_016857713.1:p.Ala270Val, NP_001288246.1:p.Ala333Val, NP_001119809.1:p.Ala289Val

Select item 143700626118.

rs1437006261 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:151563926 (GRCh38)
1:151536402 (GRCh37)
Canonical SPDI:: NC_000001.11:151563925:G:A
Gene:: TUFT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.151563926G>A, NC_000001.10:g.151536402G>A, XM_017002223.3:c.203G>A, XM_017002223.2:c.203G>A, XM_017002223.1:c.203G>A, NM_020127.3:c.260G>A, NM_020127.2:c.260G>A, XM_011509961.3:c.83G>A, XM_011509961.2:c.83G>A, XM_011509961.1:c.83G>A, XM_017002224.2:c.128G>A, XM_017002224.1:c.128G>A, NM_001301317.2:c.317G>A, NM_001301317.1:c.317G>A, NM_001126337.2:c.185G>A, NM_001126337.1:c.185G>A, XP_016857712.1:p.Gly68Glu, NP_064512.1:p.Gly87Glu, XP_011508263.1:p.Gly28Glu, XP_016857713.1:p.Gly43Glu, NP_001288246.1:p.Gly106Glu, NP_001119809.1:p.Gly62Glu

Select item 143554728519.

rs1435547285 [Homo sapiens]

Variant type:: DEL
Alleles:: GCCAAATGG>- [Show Flanks]
Chromosome:: 1:151566177 (GRCh38)
1:151538653 (GRCh37)
Canonical SPDI:: NC_000001.11:151566176:GCCAAATGG:
Gene:: TUFT1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_indel
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.151566177_151566185del, NC_000001.10:g.151538653_151538661del, XM_017002223.3:c.372_380del, XM_017002223.2:c.372_380del, XM_017002223.1:c.372_380del, NM_020127.3:c.429_437del, NM_020127.2:c.429_437del, XM_011509961.3:c.252_260del, XM_011509961.2:c.252_260del, XM_011509961.1:c.252_260del, XM_017002224.2:c.297_305del, XM_017002224.1:c.297_305del, NM_001301317.2:c.486_494del, NM_001301317.1:c.486_494del, NM_001126337.2:c.354_362del, NM_001126337.1:c.354_362del, XP_016857712.1:p.Lys124_Gly127delinsAsn, NP_064512.1:p.Lys143_Gly146delinsAsn, XP_011508263.1:p.Lys84_Gly87delinsAsn, XP_016857713.1:p.Lys99_Gly102delinsAsn, NP_001288246.1:p.Lys162_Gly165delinsAsn, NP_001119809.1:p.Lys118_Gly121delinsAsn

Select item 143504603720.

rs1435046037 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:151569741 (GRCh38)
1:151542217 (GRCh37)
Canonical SPDI:: NC_000001.11:151569740:C:G
Gene:: TUFT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.151569741C>G, NC_000001.10:g.151542217C>G, XM_017002223.3:c.508C>G, XM_017002223.2:c.508C>G, XM_017002223.1:c.508C>G, NM_020127.3:c.565C>G, NM_020127.2:c.565C>G, XM_011509961.3:c.388C>G, XM_011509961.2:c.388C>G, XM_011509961.1:c.388C>G, XM_017002224.2:c.433C>G, XM_017002224.1:c.433C>G, NM_001301317.2:c.622C>G, NM_001301317.1:c.622C>G, NM_001126337.2:c.490C>G, NM_001126337.1:c.490C>G, XP_016857712.1:p.Gln170Glu, NP_064512.1:p.Gln189Glu, XP_011508263.1:p.Gln130Glu, XP_016857713.1:p.Gln145Glu, NP_001288246.1:p.Gln208Glu, NP_001119809.1:p.Gln164Glu

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