SNP Links for Protein (Select 4759208) - SNP

Links from Protein

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Select item 14908600881.

rs1490860088 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:29989763 (GRCh38)
16:30001084 (GRCh37)
Canonical SPDI:: NC_000016.10:29989762:G:A,NC_000016.10:29989762:G:T
Gene:: TAOK2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.29989763G>A, NC_000016.10:g.29989763G>T, NC_000016.9:g.30001084G>A, NC_000016.9:g.30001084G>T, NG_030462.1:g.20897G>A, NG_030462.1:g.20897G>T, NM_004783.4:c.2403G>A, NM_004783.4:c.2403G>T, NM_004783.3:c.2403G>A, NM_004783.3:c.2403G>T, XM_011545986.4:c.2424G>A, XM_011545986.4:c.2424G>T, XM_011545986.3:c.2424G>A, XM_011545986.3:c.2424G>T, XM_011545986.2:c.2424G>A, XM_011545986.2:c.2424G>T, XM_011545986.1:c.2424G>A, XM_011545986.1:c.2424G>T, XM_011545984.2:c.2424G>A, XM_011545984.2:c.2424G>T, XM_011545984.1:c.2424G>A, XM_011545984.1:c.2424G>T, XM_011545985.2:c.2421G>A, XM_011545985.2:c.2421G>T, XM_011545985.1:c.2421G>A, XM_011545985.1:c.2421G>T, XM_047434917.1:c.2424G>A, XM_047434917.1:c.2424G>T, XM_047434918.1:c.2403G>A, XM_047434918.1:c.2403G>T, NP_004774.1:p.Glu801Asp, XP_011544288.1:p.Glu808Asp, XP_011544286.1:p.Glu808Asp, XP_011544287.1:p.Glu807Asp, XP_047290873.1:p.Glu808Asp, XP_047290874.1:p.Glu801Asp

Select item 14877586392.

rs1487758639 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:29991535 (GRCh38)
16:30002856 (GRCh37)
Canonical SPDI:: NC_000016.10:29991534:C:T
Gene:: TAOK2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.29991535C>T, NC_000016.9:g.30002856C>T, NG_030462.1:g.22669C>T, NM_004783.4:c.3117C>T, NM_004783.3:c.3117C>T, XM_011545984.2:c.3138C>T, XM_011545984.1:c.3138C>T, XM_011545985.2:c.3135C>T, XM_011545985.1:c.3135C>T

Select item 14868607983.

rs1486860798 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:29985339 (GRCh38)
16:29996660 (GRCh37)
Canonical SPDI:: NC_000016.10:29985338:C:G,NC_000016.10:29985338:C:T
Gene:: TAOK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.29985339C>G, NC_000016.10:g.29985339C>T, NC_000016.9:g.29996660C>G, NC_000016.9:g.29996660C>T, NG_030462.1:g.16473C>G, NG_030462.1:g.16473C>T, NM_016151.4:c.1549C>G, NM_016151.4:c.1549C>T, NM_016151.3:c.1549C>G, NM_016151.3:c.1549C>T, NM_004783.4:c.1549C>G, NM_004783.4:c.1549C>T, NM_004783.3:c.1549C>G, NM_004783.3:c.1549C>T, NM_001252043.2:c.1549C>G, NM_001252043.2:c.1549C>T, NM_001252043.1:c.1549C>G, NM_001252043.1:c.1549C>T, XM_011545983.4:c.1567C>G, XM_011545983.4:c.1567C>T, XM_011545983.3:c.1567C>G, XM_011545983.3:c.1567C>T, XM_011545983.2:c.1567C>G, XM_011545983.2:c.1567C>T, XM_011545983.1:c.1567C>G, XM_011545983.1:c.1567C>T, XM_011545986.4:c.1570C>G, XM_011545986.4:c.1570C>T, XM_011545986.3:c.1570C>G, XM_011545986.3:c.1570C>T, XM_011545986.2:c.1570C>G, XM_011545986.2:c.1570C>T, XM_011545986.1:c.1570C>G, XM_011545986.1:c.1570C>T, XM_011545982.3:c.1570C>G, XM_011545982.3:c.1570C>T, XM_011545982.2:c.1570C>G, XM_011545982.2:c.1570C>T, XM_011545982.1:c.1570C>G, XM_011545982.1:c.1570C>T, XM_011545984.2:c.1570C>G, XM_011545984.2:c.1570C>T, XM_011545984.1:c.1570C>G, XM_011545984.1:c.1570C>T, XM_011545985.2:c.1567C>G, XM_011545985.2:c.1567C>T, XM_011545985.1:c.1567C>G, XM_011545985.1:c.1567C>T, XM_047434919.1:c.1570C>G, XM_047434919.1:c.1570C>T, XM_047434920.1:c.1567C>G, XM_047434920.1:c.1567C>T, XM_047434921.1:c.1549C>G, XM_047434921.1:c.1549C>T, XM_047434917.1:c.1570C>G, XM_047434917.1:c.1570C>T, XM_047434918.1:c.1549C>G, XM_047434918.1:c.1549C>T, XM_047434922.1:c.1570C>G, XM_047434922.1:c.1570C>T, NP_057235.2:p.Arg517Gly, NP_057235.2:p.Arg517Trp, NP_004774.1:p.Arg517Gly, NP_004774.1:p.Arg517Trp, NP_001238972.1:p.Arg517Gly, NP_001238972.1:p.Arg517Trp, XP_011544285.1:p.Arg523Gly, XP_011544285.1:p.Arg523Trp, XP_011544288.1:p.Arg524Gly, XP_011544288.1:p.Arg524Trp, XP_011544284.1:p.Arg524Gly, XP_011544284.1:p.Arg524Trp, XP_011544286.1:p.Arg524Gly, XP_011544286.1:p.Arg524Trp, XP_011544287.1:p.Arg523Gly, XP_011544287.1:p.Arg523Trp, XP_047290875.1:p.Arg524Gly, XP_047290875.1:p.Arg524Trp, XP_047290876.1:p.Arg523Gly, XP_047290876.1:p.Arg523Trp, XP_047290877.1:p.Arg517Gly, XP_047290877.1:p.Arg517Trp, XP_047290873.1:p.Arg524Gly, XP_047290873.1:p.Arg524Trp, XP_047290874.1:p.Arg517Gly, XP_047290874.1:p.Arg517Trp, XP_047290878.1:p.Arg524Gly, XP_047290878.1:p.Arg524Trp

Select item 14867065194.

rs1486706519 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:29991052 (GRCh38)
16:30002373 (GRCh37)
Canonical SPDI:: NC_000016.10:29991051:A:G
Gene:: TAOK2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.29991052A>G, NC_000016.9:g.30002373A>G, NG_030462.1:g.22186A>G, NM_004783.4:c.2634A>G, NM_004783.3:c.2634A>G, XM_011545984.2:c.2655A>G, XM_011545984.1:c.2655A>G, XM_011545985.2:c.2652A>G, XM_011545985.1:c.2652A>G

Select item 14861076105.

rs1486107610 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:29985737 (GRCh38)
16:29997058 (GRCh37)
Canonical SPDI:: NC_000016.10:29985736:G:T
Gene:: TAOK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.29985737G>T, NC_000016.9:g.29997058G>T, NG_030462.1:g.16871G>T, NM_016151.4:c.1868G>T, NM_016151.3:c.1868G>T, NM_004783.4:c.1868G>T, NM_004783.3:c.1868G>T, NM_001252043.2:c.1868G>T, NM_001252043.1:c.1868G>T, XM_011545983.4:c.1886G>T, XM_011545983.3:c.1886G>T, XM_011545983.2:c.1886G>T, XM_011545983.1:c.1886G>T, XM_011545986.4:c.1889G>T, XM_011545986.3:c.1889G>T, XM_011545986.2:c.1889G>T, XM_011545986.1:c.1889G>T, XM_011545982.3:c.1889G>T, XM_011545982.2:c.1889G>T, XM_011545982.1:c.1889G>T, XM_011545984.2:c.1889G>T, XM_011545984.1:c.1889G>T, XM_011545985.2:c.1886G>T, XM_011545985.1:c.1886G>T, XM_047434919.1:c.1889G>T, XM_047434920.1:c.1886G>T, XM_047434921.1:c.1868G>T, XM_047434917.1:c.1889G>T, XM_047434918.1:c.1868G>T, XM_047434922.1:c.1889G>T, NP_057235.2:p.Cys623Phe, NP_004774.1:p.Cys623Phe, NP_001238972.1:p.Cys623Phe, XP_011544285.1:p.Cys629Phe, XP_011544288.1:p.Cys630Phe, XP_011544284.1:p.Cys630Phe, XP_011544286.1:p.Cys630Phe, XP_011544287.1:p.Cys629Phe, XP_047290875.1:p.Cys630Phe, XP_047290876.1:p.Cys629Phe, XP_047290877.1:p.Cys623Phe, XP_047290873.1:p.Cys630Phe, XP_047290874.1:p.Cys623Phe, XP_047290878.1:p.Cys630Phe

Select item 14849154666.

rs1484915466 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGA [Show Flanks]
Chromosome:: 16:29983206 (GRCh38)
16:29994528 (GRCh37)
Canonical SPDI:: NC_000016.10:29983206:GAAGA:GAAGAAGA
Gene:: TAOK2 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion
Validated:: by frequency
MAF:: GAA=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.29983209_29983211dup, NC_000016.9:g.29994530_29994532dup, NG_030462.1:g.14343_14345dup, NM_016151.4:c.1137_1139dup, NM_016151.3:c.1137_1139dup, NM_004783.4:c.1137_1139dup, NM_004783.3:c.1137_1139dup, NM_001252043.2:c.1137_1139dup, NM_001252043.1:c.1137_1139dup, XM_011545983.4:c.1155_1157dup, XM_011545983.3:c.1155_1157dup, XM_011545983.2:c.1155_1157dup, XM_011545983.1:c.1155_1157dup, XM_011545986.4:c.1158_1160dup, XM_011545986.3:c.1158_1160dup, XM_011545986.2:c.1158_1160dup, XM_011545986.1:c.1158_1160dup, XM_011545982.3:c.1158_1160dup, XM_011545982.2:c.1158_1160dup, XM_011545982.1:c.1158_1160dup, XM_011545984.2:c.1158_1160dup, XM_011545984.1:c.1158_1160dup, XM_011545985.2:c.1155_1157dup, XM_011545985.1:c.1155_1157dup, XM_047434919.1:c.1158_1160dup, XM_047434920.1:c.1155_1157dup, XM_047434921.1:c.1137_1139dup, XM_047434917.1:c.1158_1160dup, XM_047434918.1:c.1137_1139dup, XM_047434922.1:c.1158_1160dup, NP_057235.2:p.Glu392dup, NP_004774.1:p.Glu392dup, NP_001238972.1:p.Glu392dup, XP_011544285.1:p.Glu398dup, XP_011544288.1:p.Glu399dup, XP_011544284.1:p.Glu399dup, XP_011544286.1:p.Glu399dup, XP_011544287.1:p.Glu398dup, XP_047290875.1:p.Glu399dup, XP_047290876.1:p.Glu398dup, XP_047290877.1:p.Glu392dup, XP_047290873.1:p.Glu399dup, XP_047290874.1:p.Glu392dup, XP_047290878.1:p.Glu399dup

Select item 14848633087.

rs1484863308 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:29981677 (GRCh38)
16:29992998 (GRCh37)
Canonical SPDI:: NC_000016.10:29981676:G:A
Gene:: TAOK2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000016.10:g.29981677G>A, NC_000016.9:g.29992998G>A, NG_030462.1:g.12811G>A, NM_016151.4:c.672G>A, NM_016151.3:c.672G>A, NM_004783.4:c.672G>A, NM_004783.3:c.672G>A, NM_001252043.2:c.672G>A, NM_001252043.1:c.672G>A, XM_011545983.4:c.672G>A, XM_011545983.3:c.672G>A, XM_011545983.2:c.672G>A, XM_011545983.1:c.672G>A, XM_011545986.4:c.672G>A, XM_011545986.3:c.672G>A, XM_011545986.2:c.672G>A, XM_011545986.1:c.672G>A, XM_011545982.3:c.672G>A, XM_011545982.2:c.672G>A, XM_011545982.1:c.672G>A, XM_011545984.2:c.672G>A, XM_011545984.1:c.672G>A, XM_011545985.2:c.672G>A, XM_011545985.1:c.672G>A, XM_047434919.1:c.672G>A, XM_047434920.1:c.672G>A, XM_047434921.1:c.672G>A, XM_047434917.1:c.672G>A, XM_047434918.1:c.672G>A, XM_047434922.1:c.672G>A

Select item 14840322368.

rs1484032236 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:29991440 (GRCh38)
16:30002761 (GRCh37)
Canonical SPDI:: NC_000016.10:29991439:C:T
Gene:: TAOK2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.29991440C>T, NC_000016.9:g.30002761C>T, NG_030462.1:g.22574C>T, NM_004783.4:c.3022C>T, NM_004783.3:c.3022C>T, XM_011545984.2:c.3043C>T, XM_011545984.1:c.3043C>T, XM_011545985.2:c.3040C>T, XM_011545985.1:c.3040C>T, NP_004774.1:p.Arg1008Trp, XP_011544286.1:p.Arg1015Trp, XP_011544287.1:p.Arg1014Trp

Select item 14839333319.

rs1483933331 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:29982876 (GRCh38)
16:29994197 (GRCh37)
Canonical SPDI:: NC_000016.10:29982875:G:A,NC_000016.10:29982875:G:C
Gene:: TAOK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.29982876G>A, NC_000016.10:g.29982876G>C, NC_000016.9:g.29994197G>A, NC_000016.9:g.29994197G>C, NG_030462.1:g.14010G>A, NG_030462.1:g.14010G>C, NM_016151.4:c.974G>A, NM_016151.4:c.974G>C, NM_016151.3:c.974G>A, NM_016151.3:c.974G>C, NM_004783.4:c.974G>A, NM_004783.4:c.974G>C, NM_004783.3:c.974G>A, NM_004783.3:c.974G>C, NM_001252043.2:c.974G>A, NM_001252043.2:c.974G>C, NM_001252043.1:c.974G>A, NM_001252043.1:c.974G>C, XM_011545983.4:c.974G>A, XM_011545983.4:c.974G>C, XM_011545983.3:c.974G>A, XM_011545983.3:c.974G>C, XM_011545983.2:c.974G>A, XM_011545983.2:c.974G>C, XM_011545983.1:c.974G>A, XM_011545983.1:c.974G>C, XM_011545986.4:c.974G>A, XM_011545986.4:c.974G>C, XM_011545986.3:c.974G>A, XM_011545986.3:c.974G>C, XM_011545986.2:c.974G>A, XM_011545986.2:c.974G>C, XM_011545986.1:c.974G>A, XM_011545986.1:c.974G>C, XM_011545982.3:c.974G>A, XM_011545982.3:c.974G>C, XM_011545982.2:c.974G>A, XM_011545982.2:c.974G>C, XM_011545982.1:c.974G>A, XM_011545982.1:c.974G>C, XM_011545984.2:c.974G>A, XM_011545984.2:c.974G>C, XM_011545984.1:c.974G>A, XM_011545984.1:c.974G>C, XM_011545985.2:c.974G>A, XM_011545985.2:c.974G>C, XM_011545985.1:c.974G>A, XM_011545985.1:c.974G>C, XM_047434919.1:c.974G>A, XM_047434919.1:c.974G>C, XM_047434920.1:c.974G>A, XM_047434920.1:c.974G>C, XM_047434921.1:c.974G>A, XM_047434921.1:c.974G>C, XM_047434917.1:c.974G>A, XM_047434917.1:c.974G>C, XM_047434918.1:c.974G>A, XM_047434918.1:c.974G>C, XM_047434922.1:c.974G>A, XM_047434922.1:c.974G>C, NP_057235.2:p.Gly325Asp, NP_057235.2:p.Gly325Ala, NP_004774.1:p.Gly325Asp, NP_004774.1:p.Gly325Ala, NP_001238972.1:p.Gly325Asp, NP_001238972.1:p.Gly325Ala, XP_011544285.1:p.Gly325Asp, XP_011544285.1:p.Gly325Ala, XP_011544288.1:p.Gly325Asp, XP_011544288.1:p.Gly325Ala, XP_011544284.1:p.Gly325Asp, XP_011544284.1:p.Gly325Ala, XP_011544286.1:p.Gly325Asp, XP_011544286.1:p.Gly325Ala, XP_011544287.1:p.Gly325Asp, XP_011544287.1:p.Gly325Ala, XP_047290875.1:p.Gly325Asp, XP_047290875.1:p.Gly325Ala, XP_047290876.1:p.Gly325Asp, XP_047290876.1:p.Gly325Ala, XP_047290877.1:p.Gly325Asp, XP_047290877.1:p.Gly325Ala, XP_047290873.1:p.Gly325Asp, XP_047290873.1:p.Gly325Ala, XP_047290874.1:p.Gly325Asp, XP_047290874.1:p.Gly325Ala, XP_047290878.1:p.Gly325Asp, XP_047290878.1:p.Gly325Ala

Select item 148342141210.

rs1483421412 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:29991248 (GRCh38)
16:30002569 (GRCh37)
Canonical SPDI:: NC_000016.10:29991247:C:T
Gene:: TAOK2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.29991248C>T, NC_000016.9:g.30002569C>T, NG_030462.1:g.22382C>T, NM_004783.4:c.2830C>T, NM_004783.3:c.2830C>T, XM_011545984.2:c.2851C>T, XM_011545984.1:c.2851C>T, XM_011545985.2:c.2848C>T, XM_011545985.1:c.2848C>T, NP_004774.1:p.Arg944Cys, XP_011544286.1:p.Arg951Cys, XP_011544287.1:p.Arg950Cys

Select item 148229981311.

rs1482299813 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:29979432 (GRCh38)
16:29990753 (GRCh37)
Canonical SPDI:: NC_000016.10:29979431:G:A
Gene:: TAOK2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.29979432G>A, NC_000016.9:g.29990753G>A, NG_030462.1:g.10566G>A, NM_016151.4:c.579G>A, NM_016151.3:c.579G>A, NM_004783.4:c.579G>A, NM_004783.3:c.579G>A, NM_001252043.2:c.579G>A, NM_001252043.1:c.579G>A, XM_011545983.4:c.579G>A, XM_011545983.3:c.579G>A, XM_011545983.2:c.579G>A, XM_011545983.1:c.579G>A, XM_011545986.4:c.579G>A, XM_011545986.3:c.579G>A, XM_011545986.2:c.579G>A, XM_011545986.1:c.579G>A, XM_011545982.3:c.579G>A, XM_011545982.2:c.579G>A, XM_011545982.1:c.579G>A, XM_011545984.2:c.579G>A, XM_011545984.1:c.579G>A, XM_011545985.2:c.579G>A, XM_011545985.1:c.579G>A, XM_047434919.1:c.579G>A, XM_047434920.1:c.579G>A, XM_047434921.1:c.579G>A, XM_047434917.1:c.579G>A, XM_047434918.1:c.579G>A, XM_047434922.1:c.579G>A

Select item 148208539012.

rs1482085390 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:29990934 (GRCh38)
16:30002255 (GRCh37)
Canonical SPDI:: NC_000016.10:29990933:G:A
Gene:: TAOK2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.29990934G>A, NC_000016.9:g.30002255G>A, NG_030462.1:g.22068G>A, NM_004783.4:c.2596G>A, NM_004783.3:c.2596G>A, XM_011545984.2:c.2617G>A, XM_011545984.1:c.2617G>A, XM_011545985.2:c.2614G>A, XM_011545985.1:c.2614G>A, NP_004774.1:p.Val866Ile, XP_011544286.1:p.Val873Ile, XP_011544287.1:p.Val872Ile

Select item 148180807513.

rs1481808075 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:29991294 (GRCh38)
16:30002615 (GRCh37)
Canonical SPDI:: NC_000016.10:29991293:C:T
Gene:: TAOK2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000016.10:g.29991294C>T, NC_000016.9:g.30002615C>T, NG_030462.1:g.22428C>T, NM_004783.4:c.2876C>T, NM_004783.3:c.2876C>T, XM_011545984.2:c.2897C>T, XM_011545984.1:c.2897C>T, XM_011545985.2:c.2894C>T, XM_011545985.1:c.2894C>T, NP_004774.1:p.Pro959Leu, XP_011544286.1:p.Pro966Leu, XP_011544287.1:p.Pro965Leu

Select item 148095118014.

rs1480951180 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:29982736 (GRCh38)
16:29994057 (GRCh37)
Canonical SPDI:: NC_000016.10:29982735:C:G
Gene:: TAOK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.29982736C>G, NC_000016.9:g.29994057C>G, NG_030462.1:g.13870C>G, NM_016151.4:c.834C>G, NM_016151.3:c.834C>G, NM_004783.4:c.834C>G, NM_004783.3:c.834C>G, NM_001252043.2:c.834C>G, NM_001252043.1:c.834C>G, XM_011545983.4:c.834C>G, XM_011545983.3:c.834C>G, XM_011545983.2:c.834C>G, XM_011545983.1:c.834C>G, XM_011545986.4:c.834C>G, XM_011545986.3:c.834C>G, XM_011545986.2:c.834C>G, XM_011545986.1:c.834C>G, XM_011545982.3:c.834C>G, XM_011545982.2:c.834C>G, XM_011545982.1:c.834C>G, XM_011545984.2:c.834C>G, XM_011545984.1:c.834C>G, XM_011545985.2:c.834C>G, XM_011545985.1:c.834C>G, XM_047434919.1:c.834C>G, XM_047434920.1:c.834C>G, XM_047434921.1:c.834C>G, XM_047434917.1:c.834C>G, XM_047434918.1:c.834C>G, XM_047434922.1:c.834C>G, NP_057235.2:p.His278Gln, NP_004774.1:p.His278Gln, NP_001238972.1:p.His278Gln, XP_011544285.1:p.His278Gln, XP_011544288.1:p.His278Gln, XP_011544284.1:p.His278Gln, XP_011544286.1:p.His278Gln, XP_011544287.1:p.His278Gln, XP_047290875.1:p.His278Gln, XP_047290876.1:p.His278Gln, XP_047290877.1:p.His278Gln, XP_047290873.1:p.His278Gln, XP_047290874.1:p.His278Gln, XP_047290878.1:p.His278Gln

Select item 148073512315.

rs1480735123 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:29983292 (GRCh38)
16:29994613 (GRCh37)
Canonical SPDI:: NC_000016.10:29983291:A:G
Gene:: TAOK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.29983292A>G, NC_000016.9:g.29994613A>G, NG_030462.1:g.14426A>G, NM_016151.4:c.1220A>G, NM_016151.3:c.1220A>G, NM_004783.4:c.1220A>G, NM_004783.3:c.1220A>G, NM_001252043.2:c.1220A>G, NM_001252043.1:c.1220A>G, XM_011545983.4:c.1238A>G, XM_011545983.3:c.1238A>G, XM_011545983.2:c.1238A>G, XM_011545983.1:c.1238A>G, XM_011545986.4:c.1241A>G, XM_011545986.3:c.1241A>G, XM_011545986.2:c.1241A>G, XM_011545986.1:c.1241A>G, XM_011545982.3:c.1241A>G, XM_011545982.2:c.1241A>G, XM_011545982.1:c.1241A>G, XM_011545984.2:c.1241A>G, XM_011545984.1:c.1241A>G, XM_011545985.2:c.1238A>G, XM_011545985.1:c.1238A>G, XM_047434919.1:c.1241A>G, XM_047434920.1:c.1238A>G, XM_047434921.1:c.1220A>G, XM_047434917.1:c.1241A>G, XM_047434918.1:c.1220A>G, XM_047434922.1:c.1241A>G, NP_057235.2:p.His407Arg, NP_004774.1:p.His407Arg, NP_001238972.1:p.His407Arg, XP_011544285.1:p.His413Arg, XP_011544288.1:p.His414Arg, XP_011544284.1:p.His414Arg, XP_011544286.1:p.His414Arg, XP_011544287.1:p.His413Arg, XP_047290875.1:p.His414Arg, XP_047290876.1:p.His413Arg, XP_047290877.1:p.His407Arg, XP_047290873.1:p.His414Arg, XP_047290874.1:p.His407Arg, XP_047290878.1:p.His414Arg

Select item 147970183116.

rs1479701831 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:29983628 (GRCh38)
16:29994949 (GRCh37)
Canonical SPDI:: NC_000016.10:29983627:C:T
Gene:: TAOK2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000016.10:g.29983628C>T, NC_000016.9:g.29994949C>T, NG_030462.1:g.14762C>T, NM_016151.4:c.1386C>T, NM_016151.3:c.1386C>T, NM_004783.4:c.1386C>T, NM_004783.3:c.1386C>T, NM_001252043.2:c.1386C>T, NM_001252043.1:c.1386C>T, XM_011545983.4:c.1404C>T, XM_011545983.3:c.1404C>T, XM_011545983.2:c.1404C>T, XM_011545983.1:c.1404C>T, XM_011545986.4:c.1407C>T, XM_011545986.3:c.1407C>T, XM_011545986.2:c.1407C>T, XM_011545986.1:c.1407C>T, XM_011545982.3:c.1407C>T, XM_011545982.2:c.1407C>T, XM_011545982.1:c.1407C>T, XM_011545984.2:c.1407C>T, XM_011545984.1:c.1407C>T, XM_011545985.2:c.1404C>T, XM_011545985.1:c.1404C>T, XM_047434919.1:c.1407C>T, XM_047434920.1:c.1404C>T, XM_047434921.1:c.1386C>T, XM_047434917.1:c.1407C>T, XM_047434918.1:c.1386C>T, XM_047434922.1:c.1407C>T

Select item 147770600717.

rs1477706007 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:29979501 (GRCh38)
16:29990822 (GRCh37)
Canonical SPDI:: NC_000016.10:29979500:C:T
Gene:: TAOK2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00007/1 (TOMMO)
HGVS:: NC_000016.10:g.29979501C>T, NC_000016.9:g.29990822C>T, NG_030462.1:g.10635C>T, NM_016151.4:c.648C>T, NM_016151.3:c.648C>T, NM_004783.4:c.648C>T, NM_004783.3:c.648C>T, NM_001252043.2:c.648C>T, NM_001252043.1:c.648C>T, XM_011545983.4:c.648C>T, XM_011545983.3:c.648C>T, XM_011545983.2:c.648C>T, XM_011545983.1:c.648C>T, XM_011545986.4:c.648C>T, XM_011545986.3:c.648C>T, XM_011545986.2:c.648C>T, XM_011545986.1:c.648C>T, XM_011545982.3:c.648C>T, XM_011545982.2:c.648C>T, XM_011545982.1:c.648C>T, XM_011545984.2:c.648C>T, XM_011545984.1:c.648C>T, XM_011545985.2:c.648C>T, XM_011545985.1:c.648C>T, XM_047434919.1:c.648C>T, XM_047434920.1:c.648C>T, XM_047434921.1:c.648C>T, XM_047434917.1:c.648C>T, XM_047434918.1:c.648C>T, XM_047434922.1:c.648C>T

Select item 147733214018.

rs1477332140 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 16:29991506 (GRCh38)
16:30002827 (GRCh37)
Canonical SPDI:: NC_000016.10:29991505:CT:
Gene:: TAOK2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_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_000016.10:g.29991506_29991507del, NC_000016.9:g.30002827_30002828del, NG_030462.1:g.22640_22641del, NM_004783.4:c.3088_3089del, NM_004783.3:c.3088_3089del, XM_011545984.2:c.3109_3110del, XM_011545984.1:c.3109_3110del, XM_011545985.2:c.3106_3107del, XM_011545985.1:c.3106_3107del, NP_004774.1:p.Leu1030fs, XP_011544286.1:p.Leu1037fs, XP_011544287.1:p.Leu1036fs

Select item 147569420419.

rs1475694204 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:29985676 (GRCh38)
16:29996997 (GRCh37)
Canonical SPDI:: NC_000016.10:29985675:A:C
Gene:: TAOK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.29985676A>C, NC_000016.9:g.29996997A>C, NG_030462.1:g.16810A>C, NM_016151.4:c.1807A>C, NM_016151.3:c.1807A>C, NM_004783.4:c.1807A>C, NM_004783.3:c.1807A>C, NM_001252043.2:c.1807A>C, NM_001252043.1:c.1807A>C, XM_011545983.4:c.1825A>C, XM_011545983.3:c.1825A>C, XM_011545983.2:c.1825A>C, XM_011545983.1:c.1825A>C, XM_011545986.4:c.1828A>C, XM_011545986.3:c.1828A>C, XM_011545986.2:c.1828A>C, XM_011545986.1:c.1828A>C, XM_011545982.3:c.1828A>C, XM_011545982.2:c.1828A>C, XM_011545982.1:c.1828A>C, XM_011545984.2:c.1828A>C, XM_011545984.1:c.1828A>C, XM_011545985.2:c.1825A>C, XM_011545985.1:c.1825A>C, XM_047434919.1:c.1828A>C, XM_047434920.1:c.1825A>C, XM_047434921.1:c.1807A>C, XM_047434917.1:c.1828A>C, XM_047434918.1:c.1807A>C, XM_047434922.1:c.1828A>C, NP_057235.2:p.Ser603Arg, NP_004774.1:p.Ser603Arg, NP_001238972.1:p.Ser603Arg, XP_011544285.1:p.Ser609Arg, XP_011544288.1:p.Ser610Arg, XP_011544284.1:p.Ser610Arg, XP_011544286.1:p.Ser610Arg, XP_011544287.1:p.Ser609Arg, XP_047290875.1:p.Ser610Arg, XP_047290876.1:p.Ser609Arg, XP_047290877.1:p.Ser603Arg, XP_047290873.1:p.Ser610Arg, XP_047290874.1:p.Ser603Arg, XP_047290878.1:p.Ser610Arg

Select item 147493388320.

rs1474933883 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:29985382 (GRCh38)
16:29996703 (GRCh37)
Canonical SPDI:: NC_000016.10:29985381:A:G
Gene:: TAOK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0004/2 (ALFA)
G=0.0002/1 (Estonian)
HGVS:: NC_000016.10:g.29985382A>G, NC_000016.9:g.29996703A>G, NG_030462.1:g.16516A>G, NM_016151.4:c.1592A>G, NM_016151.3:c.1592A>G, NM_004783.4:c.1592A>G, NM_004783.3:c.1592A>G, NM_001252043.2:c.1592A>G, NM_001252043.1:c.1592A>G, XM_011545983.4:c.1610A>G, XM_011545983.3:c.1610A>G, XM_011545983.2:c.1610A>G, XM_011545983.1:c.1610A>G, XM_011545986.4:c.1613A>G, XM_011545986.3:c.1613A>G, XM_011545986.2:c.1613A>G, XM_011545986.1:c.1613A>G, XM_011545982.3:c.1613A>G, XM_011545982.2:c.1613A>G, XM_011545982.1:c.1613A>G, XM_011545984.2:c.1613A>G, XM_011545984.1:c.1613A>G, XM_011545985.2:c.1610A>G, XM_011545985.1:c.1610A>G, XM_047434919.1:c.1613A>G, XM_047434920.1:c.1610A>G, XM_047434921.1:c.1592A>G, XM_047434917.1:c.1613A>G, XM_047434918.1:c.1592A>G, XM_047434922.1:c.1613A>G, NP_057235.2:p.Gln531Arg, NP_004774.1:p.Gln531Arg, NP_001238972.1:p.Gln531Arg, XP_011544285.1:p.Gln537Arg, XP_011544288.1:p.Gln538Arg, XP_011544284.1:p.Gln538Arg, XP_011544286.1:p.Gln538Arg, XP_011544287.1:p.Gln537Arg, XP_047290875.1:p.Gln538Arg, XP_047290876.1:p.Gln537Arg, XP_047290877.1:p.Gln531Arg, XP_047290873.1:p.Gln538Arg, XP_047290874.1:p.Gln531Arg, XP_047290878.1:p.Gln538Arg

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