SNP Links for Protein (Select 88703051) - SNP

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Links from Protein

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Select item 14791138281.

rs1479113828 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:223775986 (GRCh38)
2:224640703 (GRCh37)
Canonical SPDI:: NC_000002.12:223775985:C:A,NC_000002.12:223775985:C:T
Gene:: AP1S3 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.223775986C>A, NC_000002.12:g.223775986C>T, NC_000002.11:g.224640703C>A, NC_000002.11:g.224640703C>T, NG_034017.1:g.66617G>T, NG_034017.1:g.66617G>A, NR_110905.2:n.338G>T, NR_110905.2:n.338G>A, NR_110905.1:n.358G>T, NR_110905.1:n.358G>A, NM_001039569.2:c.206G>T, NM_001039569.2:c.206G>A, NM_001039569.1:c.206G>T, NM_001039569.1:c.206G>A, XM_011510600.4:c.206G>T, XM_011510600.4:c.206G>A, XM_011510600.3:c.206G>T, XM_011510600.3:c.206G>A, XM_011510600.2:c.206G>T, XM_011510600.2:c.206G>A, XM_011510600.1:c.206G>T, XM_011510600.1:c.206G>A, NM_178814.2:c.206G>T, NM_178814.2:c.206G>A, NM_178814.1:c.206G>T, NM_178814.1:c.206G>A, NP_001034658.1:p.Cys69Phe, NP_001034658.1:p.Cys69Tyr, XP_011508902.1:p.Cys69Phe, XP_011508902.1:p.Cys69Tyr

Select item 14609999342.

rs1460999934 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:223765316 (GRCh38)
2:224630033 (GRCh37)
Canonical SPDI:: NC_000002.12:223765315:T:G
Gene:: AP1S3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.223765316T>G, NC_000002.11:g.224630033T>G, NG_034017.1:g.77287A>C, NR_110905.2:n.497A>C, NR_110905.1:n.517A>C, NM_001039569.2:c.326A>C, NM_001039569.1:c.326A>C, NR_110906.2:n.349A>C, NR_110906.1:n.369A>C, NM_178814.2:c.*50A>C, NP_001034658.1:p.Lys109Thr

Select item 14592203043.

rs1459220304 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGACC>- [Show Flanks]
Chromosome:: 2:223777740 (GRCh38)
2:224642457 (GRCh37)
Canonical SPDI:: NC_000002.12:223777737:CCTGTGACC:CC
Gene:: AP1S3 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.223777740_223777746del, NC_000002.11:g.224642457_224642463del, NG_034017.1:g.64859_64865del, NR_110905.2:n.261_267del, NR_110905.1:n.281_287del, NM_001039569.2:c.129_135del, NM_001039569.1:c.129_135del, NR_110906.2:n.261_267del, NR_110906.1:n.281_287del, XM_011510600.4:c.129_135del, XM_011510600.3:c.129_135del, XM_011510600.2:c.129_135del, XM_011510600.1:c.129_135del, NM_178814.2:c.129_135del, NM_178814.1:c.129_135del, NP_001034658.1:p.His44fs, XP_011508902.1:p.His44fs

Select item 14589129874.

rs1458912987 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:223777839 (GRCh38)
2:224642556 (GRCh37)
Canonical SPDI:: NC_000002.12:223777838:C:T
Gene:: AP1S3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000002.12:g.223777839C>T, NC_000002.11:g.224642556C>T, NG_034017.1:g.64764G>A, NR_110905.2:n.166G>A, NR_110905.1:n.186G>A, NM_001039569.2:c.34G>A, NM_001039569.1:c.34G>A, NR_110906.2:n.166G>A, NR_110906.1:n.186G>A, XM_011510600.4:c.34G>A, XM_011510600.3:c.34G>A, XM_011510600.2:c.34G>A, XM_011510600.1:c.34G>A, NM_178814.2:c.34G>A, NM_178814.1:c.34G>A, NP_001034658.1:p.Gly12Arg, XP_011508902.1:p.Gly12Arg

Select item 14549323515.

rs1454932351 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:223777735 (GRCh38)
2:224642452 (GRCh37)
Canonical SPDI:: NC_000002.12:223777734:T:C
Gene:: AP1S3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.223777735T>C, NC_000002.11:g.224642452T>C, NG_034017.1:g.64868A>G, NR_110905.2:n.270A>G, NR_110905.1:n.290A>G, NM_001039569.2:c.138A>G, NM_001039569.1:c.138A>G, NR_110906.2:n.270A>G, NR_110906.1:n.290A>G, XM_011510600.4:c.138A>G, XM_011510600.3:c.138A>G, XM_011510600.2:c.138A>G, XM_011510600.1:c.138A>G, NM_178814.2:c.138A>G, NM_178814.1:c.138A>G

Select item 14434643026.

rs1443464302 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:223777741 (GRCh38)
2:224642458 (GRCh37)
Canonical SPDI:: NC_000002.12:223777740:G:C
Gene:: AP1S3 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.223777741G>C, NC_000002.11:g.224642458G>C, NG_034017.1:g.64862C>G, NR_110905.2:n.264C>G, NR_110905.1:n.284C>G, NM_001039569.2:c.132C>G, NM_001039569.1:c.132C>G, NR_110906.2:n.264C>G, NR_110906.1:n.284C>G, XM_011510600.4:c.132C>G, XM_011510600.3:c.132C>G, XM_011510600.2:c.132C>G, XM_011510600.1:c.132C>G, NM_178814.2:c.132C>G, NM_178814.1:c.132C>G, NP_001034658.1:p.His44Gln, XP_011508902.1:p.His44Gln

Select item 14427185517.

rs1442718551 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 2:223765230 (GRCh38)
2:224629947 (GRCh37)
Canonical SPDI:: NC_000002.12:223765227:AGAG:AG
Gene:: AP1S3 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.223765228AG[1], NC_000002.11:g.224629945AG[1], NG_034017.1:g.77372CT[1], NR_110905.2:n.582CT[1], NR_110905.1:n.602CT[1], NM_001039569.2:c.413_414del, NM_001039569.1:c.413_414del, NR_110906.2:n.434CT[1], NR_110906.1:n.454CT[1], NM_178814.2:c.*135CT[1], NP_001034658.1:p.Asp137_Ser138insTer

Select item 14340377208.

rs1434037720 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:223777866 (GRCh38)
2:224642583 (GRCh37)
Canonical SPDI:: NC_000002.12:223777865:G:T
Gene:: AP1S3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000002.12:g.223777866G>T, NC_000002.11:g.224642583G>T, NG_034017.1:g.64737C>A, NR_110905.2:n.139C>A, NR_110905.1:n.159C>A, NM_001039569.2:c.7C>A, NM_001039569.1:c.7C>A, NR_110906.2:n.139C>A, NR_110906.1:n.159C>A, XM_011510600.4:c.7C>A, XM_011510600.3:c.7C>A, XM_011510600.2:c.7C>A, XM_011510600.1:c.7C>A, NM_178814.2:c.7C>A, NM_178814.1:c.7C>A, NP_001034658.1:p.His3Asn, XP_011508902.1:p.His3Asn

Select item 14028739409.

rs1402873940 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:223777763 (GRCh38)
2:224642480 (GRCh37)
Canonical SPDI:: NC_000002.12:223777762:T:C
Gene:: AP1S3 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000102/2 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.223777763T>C, NC_000002.11:g.224642480T>C, NG_034017.1:g.64840A>G, NR_110905.2:n.242A>G, NR_110905.1:n.262A>G, NM_001039569.2:c.110A>G, NM_001039569.1:c.110A>G, NR_110906.2:n.242A>G, NR_110906.1:n.262A>G, XM_011510600.4:c.110A>G, XM_011510600.3:c.110A>G, XM_011510600.2:c.110A>G, XM_011510600.1:c.110A>G, NM_178814.2:c.110A>G, NM_178814.1:c.110A>G, NP_001034658.1:p.Gln37Arg, XP_011508902.1:p.Gln37Arg

Select item 138111379110.

rs1381113791 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:223777729 (GRCh38)
2:224642446 (GRCh37)
Canonical SPDI:: NC_000002.12:223777728:A:C
Gene:: AP1S3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_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_000002.12:g.223777729A>C, NC_000002.11:g.224642446A>C, NG_034017.1:g.64874T>G, NR_110905.2:n.276T>G, NR_110905.1:n.296T>G, NM_001039569.2:c.144T>G, NM_001039569.1:c.144T>G, NR_110906.2:n.276T>G, NR_110906.1:n.296T>G, XM_011510600.4:c.144T>G, XM_011510600.3:c.144T>G, XM_011510600.2:c.144T>G, XM_011510600.1:c.144T>G, NM_178814.2:c.144T>G, NM_178814.1:c.144T>G, NP_001034658.1:p.Ser48Arg, XP_011508902.1:p.Ser48Arg

Select item 137984064711.

rs1379840647 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:223777773 (GRCh38)
2:224642490 (GRCh37)
Canonical SPDI:: NC_000002.12:223777772:C:T
Gene:: AP1S3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.223777773C>T, NC_000002.11:g.224642490C>T, NG_034017.1:g.64830G>A, NR_110905.2:n.232G>A, NR_110905.1:n.252G>A, NM_001039569.2:c.100G>A, NM_001039569.1:c.100G>A, NR_110906.2:n.232G>A, NR_110906.1:n.252G>A, XM_011510600.4:c.100G>A, XM_011510600.3:c.100G>A, XM_011510600.2:c.100G>A, XM_011510600.1:c.100G>A, NM_178814.2:c.100G>A, NM_178814.1:c.100G>A, NP_001034658.1:p.Glu34Lys, XP_011508902.1:p.Glu34Lys

Select item 137220270712.

rs1372202707 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:223777845 (GRCh38)
2:224642562 (GRCh37)
Canonical SPDI:: NC_000002.12:223777844:G:A,NC_000002.12:223777844:G:T
Gene:: AP1S3 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000012/3 (GnomAD_exomes)
A=0.000026/7 (TOPMED)
HGVS:: NC_000002.12:g.223777845G>A, NC_000002.12:g.223777845G>T, NC_000002.11:g.224642562G>A, NC_000002.11:g.224642562G>T, NG_034017.1:g.64758C>T, NG_034017.1:g.64758C>A, NR_110905.2:n.160C>T, NR_110905.2:n.160C>A, NR_110905.1:n.180C>T, NR_110905.1:n.180C>A, NM_001039569.2:c.28C>T, NM_001039569.2:c.28C>A, NM_001039569.1:c.28C>T, NM_001039569.1:c.28C>A, NR_110906.2:n.160C>T, NR_110906.2:n.160C>A, NR_110906.1:n.180C>T, NR_110906.1:n.180C>A, XM_011510600.4:c.28C>T, XM_011510600.4:c.28C>A, XM_011510600.3:c.28C>T, XM_011510600.3:c.28C>A, XM_011510600.2:c.28C>T, XM_011510600.2:c.28C>A, XM_011510600.1:c.28C>T, XM_011510600.1:c.28C>A, NM_178814.2:c.28C>T, NM_178814.2:c.28C>A, NM_178814.1:c.28C>T, NM_178814.1:c.28C>A, NP_001034658.1:p.Arg10Ter, XP_011508902.1:p.Arg10Ter

Select item 137159346513.

rs1371593465 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:223776004 (GRCh38)
2:224640721 (GRCh37)
Canonical SPDI:: NC_000002.12:223776003:G:A
Gene:: AP1S3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.223776004G>A, NC_000002.11:g.224640721G>A, NG_034017.1:g.66599C>T, NR_110905.2:n.320C>T, NR_110905.1:n.340C>T, NM_001039569.2:c.188C>T, NM_001039569.1:c.188C>T, XM_011510600.4:c.188C>T, XM_011510600.3:c.188C>T, XM_011510600.2:c.188C>T, XM_011510600.1:c.188C>T, NM_178814.2:c.188C>T, NM_178814.1:c.188C>T, NP_001034658.1:p.Ala63Val, XP_011508902.1:p.Ala63Val

Select item 135142582214.

rs1351425822 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:223775943 (GRCh38)
2:224640660 (GRCh37)
Canonical SPDI:: NC_000002.12:223775942:A:G
Gene:: AP1S3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.223775943A>G, NC_000002.11:g.224640660A>G, NG_034017.1:g.66660T>C, NR_110905.2:n.381T>C, NR_110905.1:n.401T>C, NM_001039569.2:c.249T>C, NM_001039569.1:c.249T>C, XM_011510600.4:c.249T>C, XM_011510600.3:c.249T>C, XM_011510600.2:c.249T>C, XM_011510600.1:c.249T>C, NM_178814.2:c.249T>C, NM_178814.1:c.249T>C

Select item 134573239015.

rs1345732390 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:223765281 (GRCh38)
2:224629998 (GRCh37)
Canonical SPDI:: NC_000002.12:223765280:C:T
Gene:: AP1S3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.223765281C>T, NC_000002.11:g.224629998C>T, NG_034017.1:g.77322G>A, NR_110905.2:n.532G>A, NR_110905.1:n.552G>A, NM_001039569.2:c.361G>A, NM_001039569.1:c.361G>A, NR_110906.2:n.384G>A, NR_110906.1:n.404G>A, NM_178814.2:c.*85G>A, NP_001034658.1:p.Gly121Arg

Select item 133733283716.

rs1337332837 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:223765224 (GRCh38)
2:224629941 (GRCh37)
Canonical SPDI:: NC_000002.12:223765223:T:A
Gene:: AP1S3 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.223765224T>A, NC_000002.11:g.224629941T>A, NG_034017.1:g.77379A>T, NR_110905.2:n.589A>T, NR_110905.1:n.609A>T, NM_001039569.2:c.418A>T, NM_001039569.1:c.418A>T, NR_110906.2:n.441A>T, NR_110906.1:n.461A>T, NM_178814.2:c.*142A>T, NP_001034658.1:p.Met140Leu

Select item 132205595717.

rs1322055957 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:223777736 (GRCh38)
2:224642453 (GRCh37)
Canonical SPDI:: NC_000002.12:223777735:G:A
Gene:: AP1S3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_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_000002.12:g.223777736G>A, NC_000002.11:g.224642453G>A, NG_034017.1:g.64867C>T, NR_110905.2:n.269C>T, NR_110905.1:n.289C>T, NM_001039569.2:c.137C>T, NM_001039569.1:c.137C>T, NR_110906.2:n.269C>T, NR_110906.1:n.289C>T, XM_011510600.4:c.137C>T, XM_011510600.3:c.137C>T, XM_011510600.2:c.137C>T, XM_011510600.1:c.137C>T, NM_178814.2:c.137C>T, NM_178814.1:c.137C>T, NP_001034658.1:p.Thr46Ile, XP_011508902.1:p.Thr46Ile

Select item 132066235518.

rs1320662355 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATCA>- [Show Flanks]
Chromosome:: 2:223765224 (GRCh38)
2:224629941 (GRCh37)
Canonical SPDI:: NC_000002.12:223765221:CATATCA:CA
Gene:: AP1S3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CA=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.223765224_223765228del, NC_000002.11:g.224629941_224629945del, NG_034017.1:g.77377_77381del, NR_110905.2:n.587_591del, NR_110905.1:n.607_611del, NM_001039569.2:c.416_420del, NM_001039569.1:c.416_420del, NR_110906.2:n.439_443del, NR_110906.1:n.459_463del, NM_178814.2:c.*140_*144del, NP_001034658.1:p.Asp139fs

Select item 131804465419.

rs1318044654 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:223758731 (GRCh38)
2:224623448 (GRCh37)
Canonical SPDI:: NC_000002.12:223758730:T:C
Gene:: AP1S3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000002.12:g.223758731T>C, NC_000002.11:g.224623448T>C, NG_034017.1:g.83872A>G, NR_110905.2:n.620A>G, NR_110905.1:n.640A>G, NM_001039569.2:c.449A>G, NM_001039569.1:c.449A>G, NR_110906.2:n.472A>G, NR_110906.1:n.492A>G, XM_011510600.4:c.311A>G, XM_011510600.3:c.311A>G, XM_011510600.2:c.311A>G, XM_011510600.1:c.311A>G, NM_178814.2:c.*173A>G, NP_001034658.1:p.Asn150Ser, XP_011508902.1:p.Asn104Ser

Select item 128452051920.

rs1284520519 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:223775961 (GRCh38)
2:224640678 (GRCh37)
Canonical SPDI:: NC_000002.12:223775960:C:T
Gene:: AP1S3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.00007/1 (ALFA)
HGVS:: NC_000002.12:g.223775961C>T, NC_000002.11:g.224640678C>T, NG_034017.1:g.66642G>A, NR_110905.2:n.363G>A, NR_110905.1:n.383G>A, NM_001039569.2:c.231G>A, NM_001039569.1:c.231G>A, XM_011510600.4:c.231G>A, XM_011510600.3:c.231G>A, XM_011510600.2:c.231G>A, XM_011510600.1:c.231G>A, NM_178814.2:c.231G>A, NM_178814.1:c.231G>A

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