SNP Links for Protein (Select 224589129) - SNP

Links from Protein

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Select item 14867596541.

rs1486759654 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:99188353 (GRCh38)
7:98785976 (GRCh37)
Canonical SPDI:: NC_000007.14:99188352:C:G,NC_000007.14:99188352:C:T
Gene:: KPNA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
G=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99188353C>G, NC_000007.14:g.99188353C>T, NC_000007.13:g.98785976C>G, NC_000007.13:g.98785976C>T, NG_051213.1:g.36065G>C, NG_051213.1:g.36065G>A, NM_001145715.3:c.847G>C, NM_001145715.3:c.847G>A, NM_001145715.2:c.847G>C, NM_001145715.2:c.847G>A, NM_001145715.1:c.847G>C, NM_001145715.1:c.847G>A, NW_017852929.1:g.95982C>G, NW_017852929.1:g.95982C>T, XM_011516215.3:c.928G>C, XM_011516215.3:c.928G>A, XM_011516215.2:c.928G>C, XM_011516215.2:c.928G>A, XM_011516215.1:c.928G>C, XM_011516215.1:c.928G>A, XM_017012213.2:c.847G>C, XM_017012213.2:c.847G>A, XM_017012213.1:c.847G>C, XM_017012213.1:c.847G>A, XM_017012210.2:c.895G>C, XM_017012210.2:c.895G>A, XM_017012210.1:c.895G>C, XM_017012210.1:c.895G>A, XM_017012212.2:c.847G>C, XM_017012212.2:c.847G>A, XM_017012212.1:c.847G>C, XM_017012212.1:c.847G>A, XM_017012208.2:c.928G>C, XM_017012208.2:c.928G>A, XM_017012208.1:c.928G>C, XM_017012208.1:c.928G>A, XM_017012209.2:c.916G>C, XM_017012209.2:c.916G>A, XM_017012209.1:c.916G>C, XM_017012209.1:c.916G>A, XM_017012214.2:c.847G>C, XM_017012214.2:c.847G>A, XM_017012214.1:c.847G>C, XM_017012214.1:c.847G>A, XM_017012215.2:c.928G>C, XM_017012215.2:c.928G>A, XM_017012215.1:c.928G>C, XM_017012215.1:c.928G>A, XM_017012216.2:c.559G>C, XM_017012216.2:c.559G>A, XM_017012216.1:c.559G>C, XM_017012216.1:c.559G>A, XM_017012211.2:c.928G>C, XM_017012211.2:c.928G>A, XM_017012211.1:c.928G>C, XM_017012211.1:c.928G>A, NP_001139187.1:p.Gly283Arg, NP_001139187.1:p.Gly283Arg, XP_011514517.1:p.Gly310Arg, XP_011514517.1:p.Gly310Arg, XP_016867702.1:p.Gly283Arg, XP_016867702.1:p.Gly283Arg, XP_016867699.1:p.Gly299Arg, XP_016867699.1:p.Gly299Arg, XP_016867701.1:p.Gly283Arg, XP_016867701.1:p.Gly283Arg, XP_016867697.1:p.Gly310Arg, XP_016867697.1:p.Gly310Arg, XP_016867698.1:p.Gly306Arg, XP_016867698.1:p.Gly306Arg, XP_016867703.1:p.Gly283Arg, XP_016867703.1:p.Gly283Arg, XP_016867704.1:p.Gly310Arg, XP_016867704.1:p.Gly310Arg, XP_016867705.1:p.Gly187Arg, XP_016867705.1:p.Gly187Arg, XP_016867700.1:p.Gly310Arg, XP_016867700.1:p.Gly310Arg

Select item 14866918082.

rs1486691808 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:99188559 (GRCh38)
7:98786182 (GRCh37)
Canonical SPDI:: NC_000007.14:99188558:G:A
Gene:: KPNA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000248/4 (TOMMO)
HGVS:: NC_000007.14:g.99188559G>A, NC_000007.13:g.98786182G>A, NG_051213.1:g.35859C>T, NM_001145715.3:c.641C>T, NM_001145715.2:c.641C>T, NM_001145715.1:c.641C>T, NW_017852929.1:g.96188G>A, XM_011516215.3:c.722C>T, XM_011516215.2:c.722C>T, XM_011516215.1:c.722C>T, XM_017012213.2:c.641C>T, XM_017012213.1:c.641C>T, XM_017012210.2:c.689C>T, XM_017012210.1:c.689C>T, XM_017012212.2:c.641C>T, XM_017012212.1:c.641C>T, XM_017012208.2:c.722C>T, XM_017012208.1:c.722C>T, XM_017012209.2:c.710C>T, XM_017012209.1:c.710C>T, XM_017012214.2:c.641C>T, XM_017012214.1:c.641C>T, XM_017012215.2:c.722C>T, XM_017012215.1:c.722C>T, XM_017012216.2:c.353C>T, XM_017012216.1:c.353C>T, XM_017012211.2:c.722C>T, XM_017012211.1:c.722C>T, NP_001139187.1:p.Thr214Ile, XP_011514517.1:p.Thr241Ile, XP_016867702.1:p.Thr214Ile, XP_016867699.1:p.Thr230Ile, XP_016867701.1:p.Thr214Ile, XP_016867697.1:p.Thr241Ile, XP_016867698.1:p.Thr237Ile, XP_016867703.1:p.Thr214Ile, XP_016867704.1:p.Thr241Ile, XP_016867705.1:p.Thr118Ile, XP_016867700.1:p.Thr241Ile

Select item 14865066013.

rs1486506601 [Homo sapiens]

Variant type:: INS
Alleles:: ->GC [Show Flanks]
Chromosome:: 7:99195334 (GRCh38)
7:98792958 (GRCh37)
Canonical SPDI:: NC_000007.14:99195334::GC
Gene:: KPNA7 (Varview)
Functional Consequence:: frameshift_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: GC=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99195334_99195335insGC, NC_000007.13:g.98792957_98792958insGC, NG_051213.1:g.29083_29084insGC, NM_001145715.3:c.288_289insGC, NM_001145715.2:c.288_289insGC, NM_001145715.1:c.288_289insGC, NW_017852929.1:g.102963_102964insGC, XM_011516215.3:c.369_370insGC, XM_011516215.2:c.369_370insGC, XM_011516215.1:c.369_370insGC, XM_017012213.2:c.288_289insGC, XM_017012213.1:c.288_289insGC, XM_017012210.2:c.336_337insGC, XM_017012210.1:c.336_337insGC, XM_017012212.2:c.288_289insGC, XM_017012212.1:c.288_289insGC, XM_017012208.2:c.369_370insGC, XM_017012208.1:c.369_370insGC, XM_017012209.2:c.369_370insGC, XM_017012209.1:c.369_370insGC, XM_017012214.2:c.288_289insGC, XM_017012214.1:c.288_289insGC, XM_017012215.2:c.369_370insGC, XM_017012215.1:c.369_370insGC, XM_017012216.2:c.-1_1insGC, XM_017012216.1:c.-1_1insGC, XM_017012211.2:c.369_370insGC, XM_017012211.1:c.369_370insGC, NP_001139187.1:p.Met97fs, XP_011514517.1:p.Met124fs, XP_016867702.1:p.Met97fs, XP_016867699.1:p.Met113fs, XP_016867701.1:p.Met97fs, XP_016867697.1:p.Met124fs, XP_016867698.1:p.Met124fs, XP_016867703.1:p.Met97fs, XP_016867704.1:p.Met124fs, XP_016867700.1:p.Met124fs

Select item 14848342314.

rs1484834231 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:99182050 (GRCh38)
7:98779673 (GRCh37)
Canonical SPDI:: NC_000007.14:99182049:G:A
Gene:: KPNA7 (Varview)
Functional Consequence:: stop_gained,intron_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.99182050G>A, NC_000007.13:g.98779673G>A, NG_051213.1:g.42368C>T, NM_001145715.3:c.1150C>T, NM_001145715.2:c.1150C>T, NM_001145715.1:c.1150C>T, NW_017852929.1:g.89679G>A, XM_011516215.3:c.1231C>T, XM_011516215.2:c.1231C>T, XM_011516215.1:c.1231C>T, XM_017012213.2:c.1150C>T, XM_017012213.1:c.1150C>T, XM_017012210.2:c.1198C>T, XM_017012210.1:c.1198C>T, XM_017012212.2:c.1150C>T, XM_017012212.1:c.1150C>T, XM_017012208.2:c.1231C>T, XM_017012208.1:c.1231C>T, XM_017012209.2:c.1219C>T, XM_017012209.1:c.1219C>T, XM_017012214.2:c.1150C>T, XM_017012214.1:c.1150C>T, XM_017012216.2:c.862C>T, XM_017012216.1:c.862C>T, XM_017012211.2:c.1231C>T, XM_017012211.1:c.1231C>T, NP_001139187.1:p.Gln384Ter, XP_011514517.1:p.Gln411Ter, XP_016867702.1:p.Gln384Ter, XP_016867699.1:p.Gln400Ter, XP_016867701.1:p.Gln384Ter, XP_016867697.1:p.Gln411Ter, XP_016867698.1:p.Gln407Ter, XP_016867703.1:p.Gln384Ter, XP_016867705.1:p.Gln288Ter, XP_016867700.1:p.Gln411Ter

Select item 14844278295.

rs1484427829 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:99203107 (GRCh38)
7:98800730 (GRCh37)
Canonical SPDI:: NC_000007.14:99203106:G:A
Gene:: KPNA7 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000019/3 (GnomAD_exomes)
A=0.000029/4 (GnomAD)
A=0.000049/13 (TOPMED)
A=0.000546/1 (Korea1K)
HGVS:: NC_000007.14:g.99203107G>A, NC_000007.13:g.98800730G>A, NG_051213.1:g.21311C>T, NM_001145715.3:c.200C>T, NM_001145715.2:c.200C>T, NM_001145715.1:c.200C>T, NW_017852929.1:g.110736G>A, XM_011516215.3:c.281C>T, XM_011516215.2:c.281C>T, XM_011516215.1:c.281C>T, XM_017012213.2:c.200C>T, XM_017012213.1:c.200C>T, XM_017012210.2:c.248C>T, XM_017012210.1:c.248C>T, XM_017012212.2:c.200C>T, XM_017012212.1:c.200C>T, XM_017012208.2:c.281C>T, XM_017012208.1:c.281C>T, XM_017012209.2:c.281C>T, XM_017012209.1:c.281C>T, XM_017012214.2:c.200C>T, XM_017012214.1:c.200C>T, XM_017012215.2:c.281C>T, XM_017012215.1:c.281C>T, XM_017012216.2:c.-6C>T, XM_017012216.1:c.-6C>T, XM_017012211.2:c.281C>T, XM_017012211.1:c.281C>T, NP_001139187.1:p.Ala67Val, XP_011514517.1:p.Ala94Val, XP_016867702.1:p.Ala67Val, XP_016867699.1:p.Ala83Val, XP_016867701.1:p.Ala67Val, XP_016867697.1:p.Ala94Val, XP_016867698.1:p.Ala94Val, XP_016867703.1:p.Ala67Val, XP_016867704.1:p.Ala94Val, XP_016867700.1:p.Ala94Val

Select item 14842191626.

rs1484219162 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:99185069 (GRCh38)
7:98782692 (GRCh37)
Canonical SPDI:: NC_000007.14:99185068:G:T
Gene:: KPNA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000026/4 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99185069G>T, NC_000007.13:g.98782692G>T, NG_051213.1:g.39349C>A, NM_001145715.3:c.994C>A, NM_001145715.2:c.994C>A, NM_001145715.1:c.994C>A, NW_017852929.1:g.92698G>T, XM_011516215.3:c.1075C>A, XM_011516215.2:c.1075C>A, XM_011516215.1:c.1075C>A, XM_017012213.2:c.994C>A, XM_017012213.1:c.994C>A, XM_017012210.2:c.1042C>A, XM_017012210.1:c.1042C>A, XM_017012212.2:c.994C>A, XM_017012212.1:c.994C>A, XM_017012208.2:c.1075C>A, XM_017012208.1:c.1075C>A, XM_017012209.2:c.1063C>A, XM_017012209.1:c.1063C>A, XM_017012214.2:c.994C>A, XM_017012214.1:c.994C>A, XM_017012215.2:c.1075C>A, XM_017012215.1:c.1075C>A, XM_017012216.2:c.706C>A, XM_017012216.1:c.706C>A, XM_017012211.2:c.1075C>A, XM_017012211.1:c.1075C>A, NP_001139187.1:p.Gln332Lys, XP_011514517.1:p.Gln359Lys, XP_016867702.1:p.Gln332Lys, XP_016867699.1:p.Gln348Lys, XP_016867701.1:p.Gln332Lys, XP_016867697.1:p.Gln359Lys, XP_016867698.1:p.Gln355Lys, XP_016867703.1:p.Gln332Lys, XP_016867704.1:p.Gln359Lys, XP_016867705.1:p.Gln236Lys, XP_016867700.1:p.Gln359Lys

Select item 14832401047.

rs1483240104 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:99188370 (GRCh38)
7:98785993 (GRCh37)
Canonical SPDI:: NC_000007.14:99188369:C:G
Gene:: KPNA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000056/2 (ALFA)
G=0.000006/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.99188370C>G, NC_000007.13:g.98785993C>G, NG_051213.1:g.36048G>C, NM_001145715.3:c.830G>C, NM_001145715.2:c.830G>C, NM_001145715.1:c.830G>C, NW_017852929.1:g.95999C>G, XM_011516215.3:c.911G>C, XM_011516215.2:c.911G>C, XM_011516215.1:c.911G>C, XM_017012213.2:c.830G>C, XM_017012213.1:c.830G>C, XM_017012210.2:c.878G>C, XM_017012210.1:c.878G>C, XM_017012212.2:c.830G>C, XM_017012212.1:c.830G>C, XM_017012208.2:c.911G>C, XM_017012208.1:c.911G>C, XM_017012209.2:c.899G>C, XM_017012209.1:c.899G>C, XM_017012214.2:c.830G>C, XM_017012214.1:c.830G>C, XM_017012215.2:c.911G>C, XM_017012215.1:c.911G>C, XM_017012216.2:c.542G>C, XM_017012216.1:c.542G>C, XM_017012211.2:c.911G>C, XM_017012211.1:c.911G>C, NP_001139187.1:p.Gly277Ala, XP_011514517.1:p.Gly304Ala, XP_016867702.1:p.Gly277Ala, XP_016867699.1:p.Gly293Ala, XP_016867701.1:p.Gly277Ala, XP_016867697.1:p.Gly304Ala, XP_016867698.1:p.Gly300Ala, XP_016867703.1:p.Gly277Ala, XP_016867704.1:p.Gly304Ala, XP_016867705.1:p.Gly181Ala, XP_016867700.1:p.Gly304Ala

Select item 14825061388.

rs1482506138 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:99185049 (GRCh38)
7:98782672 (GRCh37)
Canonical SPDI:: NC_000007.14:99185048:C:T
Gene:: KPNA7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000007.14:g.99185049C>T, NC_000007.13:g.98782672C>T, NG_051213.1:g.39369G>A, NM_001145715.3:c.1014G>A, NM_001145715.2:c.1014G>A, NM_001145715.1:c.1014G>A, NW_017852929.1:g.92678C>T, XM_011516215.3:c.1095G>A, XM_011516215.2:c.1095G>A, XM_011516215.1:c.1095G>A, XM_017012213.2:c.1014G>A, XM_017012213.1:c.1014G>A, XM_017012210.2:c.1062G>A, XM_017012210.1:c.1062G>A, XM_017012212.2:c.1014G>A, XM_017012212.1:c.1014G>A, XM_017012208.2:c.1095G>A, XM_017012208.1:c.1095G>A, XM_017012209.2:c.1083G>A, XM_017012209.1:c.1083G>A, XM_017012214.2:c.1014G>A, XM_017012214.1:c.1014G>A, XM_017012215.2:c.1095G>A, XM_017012215.1:c.1095G>A, XM_017012216.2:c.726G>A, XM_017012216.1:c.726G>A, XM_017012211.2:c.1095G>A, XM_017012211.1:c.1095G>A

Select item 14822946529.

rs1482294652 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:99188311 (GRCh38)
7:98785934 (GRCh37)
Canonical SPDI:: NC_000007.14:99188310:G:A
Gene:: KPNA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99188311G>A, NC_000007.13:g.98785934G>A, NG_051213.1:g.36107C>T, NM_001145715.3:c.889C>T, NM_001145715.2:c.889C>T, NM_001145715.1:c.889C>T, NW_017852929.1:g.95940G>A, XM_011516215.3:c.970C>T, XM_011516215.2:c.970C>T, XM_011516215.1:c.970C>T, XM_017012213.2:c.889C>T, XM_017012213.1:c.889C>T, XM_017012210.2:c.937C>T, XM_017012210.1:c.937C>T, XM_017012212.2:c.889C>T, XM_017012212.1:c.889C>T, XM_017012208.2:c.970C>T, XM_017012208.1:c.970C>T, XM_017012209.2:c.958C>T, XM_017012209.1:c.958C>T, XM_017012214.2:c.889C>T, XM_017012214.1:c.889C>T, XM_017012215.2:c.970C>T, XM_017012215.1:c.970C>T, XM_017012216.2:c.601C>T, XM_017012216.1:c.601C>T, XM_017012211.2:c.970C>T, XM_017012211.1:c.970C>T, NP_001139187.1:p.Leu297Phe, XP_011514517.1:p.Leu324Phe, XP_016867702.1:p.Leu297Phe, XP_016867699.1:p.Leu313Phe, XP_016867701.1:p.Leu297Phe, XP_016867697.1:p.Leu324Phe, XP_016867698.1:p.Leu320Phe, XP_016867703.1:p.Leu297Phe, XP_016867704.1:p.Leu324Phe, XP_016867705.1:p.Leu201Phe, XP_016867700.1:p.Leu324Phe

Select item 148005526910.

rs1480055269 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:99181923 (GRCh38)
7:98779546 (GRCh37)
Canonical SPDI:: NC_000007.14:99181922:A:G
Gene:: KPNA7 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99181923A>G, NC_000007.13:g.98779546A>G, NG_051213.1:g.42495T>C, NM_001145715.3:c.1277T>C, NM_001145715.2:c.1277T>C, NM_001145715.1:c.1277T>C, NW_017852929.1:g.89552A>G, XM_011516215.3:c.1358T>C, XM_011516215.2:c.1358T>C, XM_011516215.1:c.1358T>C, XM_017012213.2:c.1277T>C, XM_017012213.1:c.1277T>C, XM_017012210.2:c.1325T>C, XM_017012210.1:c.1325T>C, XM_017012212.2:c.1277T>C, XM_017012212.1:c.1277T>C, XM_017012208.2:c.1358T>C, XM_017012208.1:c.1358T>C, XM_017012209.2:c.1346T>C, XM_017012209.1:c.1346T>C, XM_017012214.2:c.1277T>C, XM_017012214.1:c.1277T>C, XM_017012216.2:c.989T>C, XM_017012216.1:c.989T>C, XM_017012211.2:c.1358T>C, XM_017012211.1:c.1358T>C, NP_001139187.1:p.Ile426Thr, XP_011514517.1:p.Ile453Thr, XP_016867702.1:p.Ile426Thr, XP_016867699.1:p.Ile442Thr, XP_016867701.1:p.Ile426Thr, XP_016867697.1:p.Ile453Thr, XP_016867698.1:p.Ile449Thr, XP_016867703.1:p.Ile426Thr, XP_016867705.1:p.Ile330Thr, XP_016867700.1:p.Ile453Thr

Select item 147843107411.

rs1478431074 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:99185079 (GRCh38)
7:98782702 (GRCh37)
Canonical SPDI:: NC_000007.14:99185078:G:A,NC_000007.14:99185078:G:C
Gene:: KPNA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000013/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000007.14:g.99185079G>A, NC_000007.14:g.99185079G>C, NC_000007.13:g.98782702G>A, NC_000007.13:g.98782702G>C, NG_051213.1:g.39339C>T, NG_051213.1:g.39339C>G, NM_001145715.3:c.984C>T, NM_001145715.3:c.984C>G, NM_001145715.2:c.984C>T, NM_001145715.2:c.984C>G, NM_001145715.1:c.984C>T, NM_001145715.1:c.984C>G, NW_017852929.1:g.92708G>A, NW_017852929.1:g.92708G>C, XM_011516215.3:c.1065C>T, XM_011516215.3:c.1065C>G, XM_011516215.2:c.1065C>T, XM_011516215.2:c.1065C>G, XM_011516215.1:c.1065C>T, XM_011516215.1:c.1065C>G, XM_017012213.2:c.984C>T, XM_017012213.2:c.984C>G, XM_017012213.1:c.984C>T, XM_017012213.1:c.984C>G, XM_017012210.2:c.1032C>T, XM_017012210.2:c.1032C>G, XM_017012210.1:c.1032C>T, XM_017012210.1:c.1032C>G, XM_017012212.2:c.984C>T, XM_017012212.2:c.984C>G, XM_017012212.1:c.984C>T, XM_017012212.1:c.984C>G, XM_017012208.2:c.1065C>T, XM_017012208.2:c.1065C>G, XM_017012208.1:c.1065C>T, XM_017012208.1:c.1065C>G, XM_017012209.2:c.1053C>T, XM_017012209.2:c.1053C>G, XM_017012209.1:c.1053C>T, XM_017012209.1:c.1053C>G, XM_017012214.2:c.984C>T, XM_017012214.2:c.984C>G, XM_017012214.1:c.984C>T, XM_017012214.1:c.984C>G, XM_017012215.2:c.1065C>T, XM_017012215.2:c.1065C>G, XM_017012215.1:c.1065C>T, XM_017012215.1:c.1065C>G, XM_017012216.2:c.696C>T, XM_017012216.2:c.696C>G, XM_017012216.1:c.696C>T, XM_017012216.1:c.696C>G, XM_017012211.2:c.1065C>T, XM_017012211.2:c.1065C>G, XM_017012211.1:c.1065C>T, XM_017012211.1:c.1065C>G, NP_001139187.1:p.Asn328Lys, XP_011514517.1:p.Asn355Lys, XP_016867702.1:p.Asn328Lys, XP_016867699.1:p.Asn344Lys, XP_016867701.1:p.Asn328Lys, XP_016867697.1:p.Asn355Lys, XP_016867698.1:p.Asn351Lys, XP_016867703.1:p.Asn328Lys, XP_016867704.1:p.Asn355Lys, XP_016867705.1:p.Asn232Lys, XP_016867700.1:p.Asn355Lys

Select item 147806376312.

rs1478063763 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:99188400 (GRCh38)
7:98786023 (GRCh37)
Canonical SPDI:: NC_000007.14:99188399:T:C
Gene:: KPNA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.99188400T>C, NC_000007.13:g.98786023T>C, NG_051213.1:g.36018A>G, NM_001145715.3:c.800A>G, NM_001145715.2:c.800A>G, NM_001145715.1:c.800A>G, NW_017852929.1:g.96029T>C, XM_011516215.3:c.881A>G, XM_011516215.2:c.881A>G, XM_011516215.1:c.881A>G, XM_017012213.2:c.800A>G, XM_017012213.1:c.800A>G, XM_017012210.2:c.848A>G, XM_017012210.1:c.848A>G, XM_017012212.2:c.800A>G, XM_017012212.1:c.800A>G, XM_017012208.2:c.881A>G, XM_017012208.1:c.881A>G, XM_017012209.2:c.869A>G, XM_017012209.1:c.869A>G, XM_017012214.2:c.800A>G, XM_017012214.1:c.800A>G, XM_017012215.2:c.881A>G, XM_017012215.1:c.881A>G, XM_017012216.2:c.512A>G, XM_017012216.1:c.512A>G, XM_017012211.2:c.881A>G, XM_017012211.1:c.881A>G, NP_001139187.1:p.Tyr267Cys, XP_011514517.1:p.Tyr294Cys, XP_016867702.1:p.Tyr267Cys, XP_016867699.1:p.Tyr283Cys, XP_016867701.1:p.Tyr267Cys, XP_016867697.1:p.Tyr294Cys, XP_016867698.1:p.Tyr290Cys, XP_016867703.1:p.Tyr267Cys, XP_016867704.1:p.Tyr294Cys, XP_016867705.1:p.Tyr171Cys, XP_016867700.1:p.Tyr294Cys

Select item 147617831113.

rs1476178311 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:99188506 (GRCh38)
7:98786129 (GRCh37)
Canonical SPDI:: NC_000007.14:99188505:G:T
Gene:: KPNA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99188506G>T, NC_000007.13:g.98786129G>T, NG_051213.1:g.35912C>A, NM_001145715.3:c.694C>A, NM_001145715.2:c.694C>A, NM_001145715.1:c.694C>A, NW_017852929.1:g.96135G>T, XM_011516215.3:c.775C>A, XM_011516215.2:c.775C>A, XM_011516215.1:c.775C>A, XM_017012213.2:c.694C>A, XM_017012213.1:c.694C>A, XM_017012210.2:c.742C>A, XM_017012210.1:c.742C>A, XM_017012212.2:c.694C>A, XM_017012212.1:c.694C>A, XM_017012208.2:c.775C>A, XM_017012208.1:c.775C>A, XM_017012209.2:c.763C>A, XM_017012209.1:c.763C>A, XM_017012214.2:c.694C>A, XM_017012214.1:c.694C>A, XM_017012215.2:c.775C>A, XM_017012215.1:c.775C>A, XM_017012216.2:c.406C>A, XM_017012216.1:c.406C>A, XM_017012211.2:c.775C>A, XM_017012211.1:c.775C>A, NP_001139187.1:p.Pro232Thr, XP_011514517.1:p.Pro259Thr, XP_016867702.1:p.Pro232Thr, XP_016867699.1:p.Pro248Thr, XP_016867701.1:p.Pro232Thr, XP_016867697.1:p.Pro259Thr, XP_016867698.1:p.Pro255Thr, XP_016867703.1:p.Pro232Thr, XP_016867704.1:p.Pro259Thr, XP_016867705.1:p.Pro136Thr, XP_016867700.1:p.Pro259Thr

Select item 147515856714.

rs1475158567 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:99177954 (GRCh38)
7:98775577 (GRCh37)
Canonical SPDI:: NC_000007.14:99177953:G:A
Gene:: KPNA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.99177954G>A, NC_000007.13:g.98775577G>A, NG_051213.1:g.46464C>T, NM_001145715.3:c.1430C>T, NM_001145715.2:c.1430C>T, NM_001145715.1:c.1430C>T, NW_017852929.1:g.85583G>A, XM_011516215.3:c.1511C>T, XM_011516215.2:c.1511C>T, XM_011516215.1:c.1511C>T, XM_017012213.2:c.1430C>T, XM_017012213.1:c.1430C>T, XM_017012210.2:c.1478C>T, XM_017012210.1:c.1478C>T, XM_017012212.2:c.1430C>T, XM_017012212.1:c.1430C>T, XM_017012208.2:c.1511C>T, XM_017012208.1:c.1511C>T, XM_017012209.2:c.1499C>T, XM_017012209.1:c.1499C>T, XM_017012214.2:c.1430C>T, XM_017012214.1:c.1430C>T, XM_017012215.2:c.1328C>T, XM_017012215.1:c.1328C>T, XM_017012216.2:c.1142C>T, XM_017012216.1:c.1142C>T, XM_017012211.2:c.1511C>T, XM_017012211.1:c.1511C>T, NP_001139187.1:p.Ser477Leu, XP_011514517.1:p.Ser504Leu, XP_016867702.1:p.Ser477Leu, XP_016867699.1:p.Ser493Leu, XP_016867701.1:p.Ser477Leu, XP_016867697.1:p.Ser504Leu, XP_016867698.1:p.Ser500Leu, XP_016867703.1:p.Ser477Leu, XP_016867704.1:p.Ser443Leu, XP_016867705.1:p.Ser381Leu, XP_016867700.1:p.Ser504Leu

Select item 147296045915.

rs1472960459 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:99195187 (GRCh38)
7:98792810 (GRCh37)
Canonical SPDI:: NC_000007.14:99195186:A:C
Gene:: KPNA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.99195187A>C, NC_000007.13:g.98792810A>C, NG_051213.1:g.29231T>G, NM_001145715.3:c.436T>G, NM_001145715.2:c.436T>G, NM_001145715.1:c.436T>G, NW_017852929.1:g.102816A>C, XM_011516215.3:c.517T>G, XM_011516215.2:c.517T>G, XM_011516215.1:c.517T>G, XM_017012213.2:c.436T>G, XM_017012213.1:c.436T>G, XM_017012210.2:c.484T>G, XM_017012210.1:c.484T>G, XM_017012212.2:c.436T>G, XM_017012212.1:c.436T>G, XM_017012208.2:c.517T>G, XM_017012208.1:c.517T>G, XM_017012209.2:c.517T>G, XM_017012209.1:c.517T>G, XM_017012214.2:c.436T>G, XM_017012214.1:c.436T>G, XM_017012215.2:c.517T>G, XM_017012215.1:c.517T>G, XM_017012216.2:c.148T>G, XM_017012216.1:c.148T>G, XM_017012211.2:c.517T>G, XM_017012211.1:c.517T>G, NP_001139187.1:p.Ser146Ala, XP_011514517.1:p.Ser173Ala, XP_016867702.1:p.Ser146Ala, XP_016867699.1:p.Ser162Ala, XP_016867701.1:p.Ser146Ala, XP_016867697.1:p.Ser173Ala, XP_016867698.1:p.Ser173Ala, XP_016867703.1:p.Ser146Ala, XP_016867704.1:p.Ser173Ala, XP_016867705.1:p.Ser50Ala, XP_016867700.1:p.Ser173Ala

Select item 147286665216.

rs1472866652 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:99188322 (GRCh38)
7:98785945 (GRCh37)
Canonical SPDI:: NC_000007.14:99188321:G:A
Gene:: KPNA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000026/4 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99188322G>A, NC_000007.13:g.98785945G>A, NG_051213.1:g.36096C>T, NM_001145715.3:c.878C>T, NM_001145715.2:c.878C>T, NM_001145715.1:c.878C>T, NW_017852929.1:g.95951G>A, XM_011516215.3:c.959C>T, XM_011516215.2:c.959C>T, XM_011516215.1:c.959C>T, XM_017012213.2:c.878C>T, XM_017012213.1:c.878C>T, XM_017012210.2:c.926C>T, XM_017012210.1:c.926C>T, XM_017012212.2:c.878C>T, XM_017012212.1:c.878C>T, XM_017012208.2:c.959C>T, XM_017012208.1:c.959C>T, XM_017012209.2:c.947C>T, XM_017012209.1:c.947C>T, XM_017012214.2:c.878C>T, XM_017012214.1:c.878C>T, XM_017012215.2:c.959C>T, XM_017012215.1:c.959C>T, XM_017012216.2:c.590C>T, XM_017012216.1:c.590C>T, XM_017012211.2:c.959C>T, XM_017012211.1:c.959C>T, NP_001139187.1:p.Thr293Ile, XP_011514517.1:p.Thr320Ile, XP_016867702.1:p.Thr293Ile, XP_016867699.1:p.Thr309Ile, XP_016867701.1:p.Thr293Ile, XP_016867697.1:p.Thr320Ile, XP_016867698.1:p.Thr316Ile, XP_016867703.1:p.Thr293Ile, XP_016867704.1:p.Thr320Ile, XP_016867705.1:p.Thr197Ile, XP_016867700.1:p.Thr320Ile

Select item 147278771417.

rs1472787714 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:99182005 (GRCh38)
7:98779628 (GRCh37)
Canonical SPDI:: NC_000007.14:99182004:T:C
Gene:: KPNA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.99182005T>C, NC_000007.13:g.98779628T>C, NG_051213.1:g.42413A>G, NM_001145715.3:c.1195A>G, NM_001145715.2:c.1195A>G, NM_001145715.1:c.1195A>G, NW_017852929.1:g.89634T>C, XM_011516215.3:c.1276A>G, XM_011516215.2:c.1276A>G, XM_011516215.1:c.1276A>G, XM_017012213.2:c.1195A>G, XM_017012213.1:c.1195A>G, XM_017012210.2:c.1243A>G, XM_017012210.1:c.1243A>G, XM_017012212.2:c.1195A>G, XM_017012212.1:c.1195A>G, XM_017012208.2:c.1276A>G, XM_017012208.1:c.1276A>G, XM_017012209.2:c.1264A>G, XM_017012209.1:c.1264A>G, XM_017012214.2:c.1195A>G, XM_017012214.1:c.1195A>G, XM_017012216.2:c.907A>G, XM_017012216.1:c.907A>G, XM_017012211.2:c.1276A>G, XM_017012211.1:c.1276A>G, NP_001139187.1:p.Thr399Ala, XP_011514517.1:p.Thr426Ala, XP_016867702.1:p.Thr399Ala, XP_016867699.1:p.Thr415Ala, XP_016867701.1:p.Thr399Ala, XP_016867697.1:p.Thr426Ala, XP_016867698.1:p.Thr422Ala, XP_016867703.1:p.Thr399Ala, XP_016867705.1:p.Thr303Ala, XP_016867700.1:p.Thr426Ala

Select item 147184771018.

rs1471847710 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:99184982 (GRCh38)
7:98782605 (GRCh37)
Canonical SPDI:: NC_000007.14:99184981:G:A
Gene:: KPNA7 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000153/3 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.000039/6 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99184982G>A, NC_000007.13:g.98782605G>A, NG_051213.1:g.39436C>T, NM_001145715.3:c.1081C>T, NM_001145715.2:c.1081C>T, NM_001145715.1:c.1081C>T, NW_017852929.1:g.92611G>A, XM_011516215.3:c.1162C>T, XM_011516215.2:c.1162C>T, XM_011516215.1:c.1162C>T, XM_017012213.2:c.1081C>T, XM_017012213.1:c.1081C>T, XM_017012210.2:c.1129C>T, XM_017012210.1:c.1129C>T, XM_017012212.2:c.1081C>T, XM_017012212.1:c.1081C>T, XM_017012208.2:c.1162C>T, XM_017012208.1:c.1162C>T, XM_017012209.2:c.1150C>T, XM_017012209.1:c.1150C>T, XM_017012214.2:c.1081C>T, XM_017012214.1:c.1081C>T, XM_017012215.2:c.1162C>T, XM_017012215.1:c.1162C>T, XM_017012216.2:c.793C>T, XM_017012216.1:c.793C>T, XM_017012211.2:c.1162C>T, XM_017012211.1:c.1162C>T, NP_001139187.1:p.Gln361Ter, XP_011514517.1:p.Gln388Ter, XP_016867702.1:p.Gln361Ter, XP_016867699.1:p.Gln377Ter, XP_016867701.1:p.Gln361Ter, XP_016867697.1:p.Gln388Ter, XP_016867698.1:p.Gln384Ter, XP_016867703.1:p.Gln361Ter, XP_016867704.1:p.Gln388Ter, XP_016867705.1:p.Gln265Ter, XP_016867700.1:p.Gln388Ter

Select item 147184358619.

rs1471843586 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:99178057 (GRCh38)
7:98775680 (GRCh37)
Canonical SPDI:: NC_000007.14:99178056:T:C
Gene:: KPNA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.99178057T>C, NC_000007.13:g.98775680T>C, NG_051213.1:g.46361A>G, NM_001145715.3:c.1327A>G, NM_001145715.2:c.1327A>G, NM_001145715.1:c.1327A>G, NW_017852929.1:g.85686T>C, XM_011516215.3:c.1408A>G, XM_011516215.2:c.1408A>G, XM_011516215.1:c.1408A>G, XM_017012213.2:c.1327A>G, XM_017012213.1:c.1327A>G, XM_017012210.2:c.1375A>G, XM_017012210.1:c.1375A>G, XM_017012212.2:c.1327A>G, XM_017012212.1:c.1327A>G, XM_017012208.2:c.1408A>G, XM_017012208.1:c.1408A>G, XM_017012209.2:c.1396A>G, XM_017012209.1:c.1396A>G, XM_017012214.2:c.1327A>G, XM_017012214.1:c.1327A>G, XM_017012215.2:c.1225A>G, XM_017012215.1:c.1225A>G, XM_017012216.2:c.1039A>G, XM_017012216.1:c.1039A>G, XM_017012211.2:c.1408A>G, XM_017012211.1:c.1408A>G, NP_001139187.1:p.Lys443Glu, XP_011514517.1:p.Lys470Glu, XP_016867702.1:p.Lys443Glu, XP_016867699.1:p.Lys459Glu, XP_016867701.1:p.Lys443Glu, XP_016867697.1:p.Lys470Glu, XP_016867698.1:p.Lys466Glu, XP_016867703.1:p.Lys443Glu, XP_016867704.1:p.Lys409Glu, XP_016867705.1:p.Lys347Glu, XP_016867700.1:p.Lys470Glu

Select item 147052211720.

rs1470522117 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:99207422 (GRCh38)
7:98805045 (GRCh37)
Canonical SPDI:: NC_000007.14:99207421:C:G
Gene:: KPNA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.99207422C>G, NC_000007.13:g.98805045C>G, NG_051213.1:g.16996G>C, NM_001145715.3:c.45G>C, NM_001145715.2:c.45G>C, NM_001145715.1:c.45G>C, NW_017852929.1:g.115051C>G, XM_011516215.3:c.126G>C, XM_011516215.2:c.126G>C, XM_011516215.1:c.126G>C, XM_017012213.2:c.45G>C, XM_017012213.1:c.45G>C, XM_017012210.2:c.93G>C, XM_017012210.1:c.93G>C, XM_017012212.2:c.45G>C, XM_017012212.1:c.45G>C, XM_017012208.2:c.126G>C, XM_017012208.1:c.126G>C, XM_017012209.2:c.126G>C, XM_017012209.1:c.126G>C, XM_017012214.2:c.45G>C, XM_017012214.1:c.45G>C, XM_017012215.2:c.126G>C, XM_017012215.1:c.126G>C, XM_017012211.2:c.126G>C, XM_017012211.1:c.126G>C, NP_001139187.1:p.Lys15Asn, XP_011514517.1:p.Lys42Asn, XP_016867702.1:p.Lys15Asn, XP_016867699.1:p.Lys31Asn, XP_016867701.1:p.Lys15Asn, XP_016867697.1:p.Lys42Asn, XP_016867698.1:p.Lys42Asn, XP_016867703.1:p.Lys15Asn, XP_016867704.1:p.Lys42Asn, XP_016867700.1:p.Lys42Asn

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