SNP Links for Protein (Select 166235178) - SNP

Links from Protein

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Select item 14868641261.

rs1486864126 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:185523418 (GRCh38)
4:186444572 (GRCh37)
Canonical SPDI:: NC_000004.12:185523417:C:A
Gene:: PDLIM3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000004.12:g.185523418C>A, NC_000004.11:g.186444572C>A, NG_032576.3:g.17141G>T, NM_014476.6:c.274G>T, NM_014476.5:c.274G>T, NM_001114107.5:c.274G>T, NM_001114107.4:c.274G>T, NM_001257962.2:c.274G>T, NM_001257962.1:c.274G>T, NR_047562.2:n.347G>T, NR_047562.1:n.398G>T, XM_047450072.1:c.274G>T, XM_047450071.1:c.274G>T, NP_055291.2:p.Val92Leu, NP_001107579.1:p.Val92Leu, NP_001244891.1:p.Val92Leu, XP_047306028.1:p.Val92Leu, XP_047306027.1:p.Val92Leu

Select item 14856886392.

rs1485688639 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:185514870 (GRCh38)
4:186436024 (GRCh37)
Canonical SPDI:: NC_000004.12:185514869:G:A
Gene:: PDLIM3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000342/1 (KOREAN)
HGVS:: NC_000004.12:g.185514870G>A, NC_000004.11:g.186436024G>A, NG_032576.3:g.25689C>T, NM_001114107.5:c.351C>T, NM_001114107.4:c.351C>T, NG_083567.1:g.1283G>A, XM_047450072.1:c.351C>T, XM_047450071.1:c.351C>T

Select item 14825213223.

rs1482521322 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:185506564 (GRCh38)
4:186427718 (GRCh37)
Canonical SPDI:: NC_000004.12:185506563:C:T
Gene:: PDLIM3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000223/2 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.185506564C>T, NC_000004.11:g.186427718C>T, NG_032576.3:g.33995G>A, NM_014476.6:c.751G>A, NM_014476.5:c.751G>A, NM_001114107.5:c.607G>A, NM_001114107.4:c.607G>A, NM_001257962.2:c.487G>A, NM_001257962.1:c.487G>A, NR_047562.2:n.492G>A, NR_047562.1:n.543G>A, NM_001257963.2:c.250G>A, NM_001257963.1:c.250G>A, NP_055291.2:p.Gly251Ser, NP_001107579.1:p.Gly203Ser, NP_001244891.1:p.Gly163Ser, NP_001244892.1:p.Gly84Ser

Select item 14820077054.

rs1482007705 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:185506553 (GRCh38)
4:186427707 (GRCh37)
Canonical SPDI:: NC_000004.12:185506552:T:C
Gene:: PDLIM3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.185506553T>C, NC_000004.11:g.186427707T>C, NG_032576.3:g.34006A>G, NM_014476.6:c.762A>G, NM_014476.5:c.762A>G, NM_001114107.5:c.618A>G, NM_001114107.4:c.618A>G, NM_001257962.2:c.498A>G, NM_001257962.1:c.498A>G, NR_047562.2:n.503A>G, NR_047562.1:n.554A>G, NM_001257963.2:c.261A>G, NM_001257963.1:c.261A>G

Select item 14783548635.

rs1478354863 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:185514877 (GRCh38)
4:186436031 (GRCh37)
Canonical SPDI:: NC_000004.12:185514876:A:G
Gene:: PDLIM3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000006/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000004.12:g.185514877A>G, NC_000004.11:g.186436031A>G, NG_032576.3:g.25682T>C, NM_001114107.5:c.344T>C, NM_001114107.4:c.344T>C, NG_083567.1:g.1290A>G, XM_047450072.1:c.344T>C, XM_047450071.1:c.344T>C, NP_001107579.1:p.Ile115Thr, XP_047306028.1:p.Ile115Thr, XP_047306027.1:p.Ile115Thr

Select item 14772819876.

rs1477281987 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:185514830 (GRCh38)
4:186435984 (GRCh37)
Canonical SPDI:: NC_000004.12:185514829:T:C
Gene:: PDLIM3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.185514830T>C, NC_000004.11:g.186435984T>C, NG_032576.3:g.25729A>G, NM_001114107.5:c.391A>G, NM_001114107.4:c.391A>G, NG_083567.1:g.1243T>C, XM_047450072.1:c.391A>G, XM_047450071.1:c.391A>G, NP_001107579.1:p.Asn131Asp, XP_047306028.1:p.Asn131Asp, XP_047306027.1:p.Asn131Asp

Select item 14752502967.

rs1475250296 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:185514717 (GRCh38)
4:186435871 (GRCh37)
Canonical SPDI:: NC_000004.12:185514716:A:G
Gene:: PDLIM3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.185514717A>G, NC_000004.11:g.186435871A>G, NG_032576.3:g.25842T>C, NM_001114107.5:c.504T>C, NM_001114107.4:c.504T>C, NG_083567.1:g.1130A>G, XM_047450072.1:c.504T>C, XM_047450071.1:c.504T>C

Select item 14649151278.

rs1464915127 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:185535370 (GRCh38)
4:186456524 (GRCh37)
Canonical SPDI:: NC_000004.12:185535369:T:C
Gene:: PDLIM3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.185535370T>C, NC_000004.11:g.186456524T>C, NG_032576.3:g.5189A>G, NM_014476.6:c.65A>G, NM_014476.5:c.65A>G, NM_001114107.5:c.65A>G, NM_001114107.4:c.65A>G, NM_001257962.2:c.65A>G, NM_001257962.1:c.65A>G, NR_047562.2:n.138A>G, NR_047562.1:n.189A>G, NM_001257963.2:c.65A>G, NM_001257963.1:c.65A>G, XM_047450072.1:c.65A>G, XM_047450071.1:c.65A>G, NP_055291.2:p.Asp22Gly, NP_001107579.1:p.Asp22Gly, NP_001244891.1:p.Asp22Gly, NP_001244892.1:p.Asp22Gly, XP_047306028.1:p.Asp22Gly, XP_047306027.1:p.Asp22Gly

Select item 14639709609.

rs1463970960 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:185504537 (GRCh38)
4:186425691 (GRCh37)
Canonical SPDI:: NC_000004.12:185504536:G:A,NC_000004.12:185504536:G:T
Gene:: PDLIM3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.185504537G>A, NC_000004.12:g.185504537G>T, NC_000004.11:g.186425691G>A, NC_000004.11:g.186425691G>T, NG_032576.3:g.36022C>T, NG_032576.3:g.36022C>A, NM_014476.6:c.843C>T, NM_014476.6:c.843C>A, NM_014476.5:c.843C>T, NM_014476.5:c.843C>A, NM_001114107.5:c.699C>T, NM_001114107.5:c.699C>A, NM_001114107.4:c.699C>T, NM_001114107.4:c.699C>A, NM_001257962.2:c.579C>T, NM_001257962.2:c.579C>A, NM_001257962.1:c.579C>T, NM_001257962.1:c.579C>A, NR_047562.2:n.584C>T, NR_047562.2:n.584C>A, NR_047562.1:n.635C>T, NR_047562.1:n.635C>A, NM_001257963.2:c.342C>T, NM_001257963.2:c.342C>A, NM_001257963.1:c.342C>T, NM_001257963.1:c.342C>A

Select item 145559321010.

rs1455593210 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:185514837 (GRCh38)
4:186435991 (GRCh37)
Canonical SPDI:: NC_000004.12:185514836:T:C
Gene:: PDLIM3 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.185514837T>C, NC_000004.11:g.186435991T>C, NG_032576.3:g.25722A>G, NM_001114107.5:c.384A>G, NM_001114107.4:c.384A>G, NG_083567.1:g.1250T>C, XM_047450072.1:c.384A>G, XM_047450071.1:c.384A>G

Select item 144842240711.

rs1448422407 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:185523373 (GRCh38)
4:186444527 (GRCh37)
Canonical SPDI:: NC_000004.12:185523372:A:G
Gene:: PDLIM3 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.185523373A>G, NC_000004.11:g.186444527A>G, NG_032576.3:g.17186T>C, NM_014476.6:c.319T>C, NM_014476.5:c.319T>C, NM_001114107.5:c.319T>C, NM_001114107.4:c.319T>C, NM_001257962.2:c.319T>C, NM_001257962.1:c.319T>C, NR_047562.2:n.392T>C, NR_047562.1:n.443T>C, XM_047450072.1:c.319T>C, XM_047450071.1:c.319T>C, NP_055291.2:p.Ser107Pro, NP_001107579.1:p.Ser107Pro, NP_001244891.1:p.Ser107Pro, XP_047306028.1:p.Ser107Pro, XP_047306027.1:p.Ser107Pro

Select item 144340453912.

rs1443404539 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:185506630 (GRCh38)
4:186427784 (GRCh37)
Canonical SPDI:: NC_000004.12:185506629:G:A,NC_000004.12:185506629:G:T
Gene:: PDLIM3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.185506630G>A, NC_000004.12:g.185506630G>T, NC_000004.11:g.186427784G>A, NC_000004.11:g.186427784G>T, NG_032576.3:g.33929C>T, NG_032576.3:g.33929C>A, NM_014476.6:c.685C>T, NM_014476.6:c.685C>A, NM_014476.5:c.685C>T, NM_014476.5:c.685C>A, NM_001114107.5:c.541C>T, NM_001114107.5:c.541C>A, NM_001114107.4:c.541C>T, NM_001114107.4:c.541C>A, NM_001257962.2:c.421C>T, NM_001257962.2:c.421C>A, NM_001257962.1:c.421C>T, NM_001257962.1:c.421C>A, NR_047562.2:n.426C>T, NR_047562.2:n.426C>A, NR_047562.1:n.477C>T, NR_047562.1:n.477C>A, NM_001257963.2:c.184C>T, NM_001257963.2:c.184C>A, NM_001257963.1:c.184C>T, NM_001257963.1:c.184C>A, XM_047450072.1:c.*39C>T, XM_047450072.1:c.*39C>A, NP_055291.2:p.Pro229Ser, NP_055291.2:p.Pro229Thr, NP_001107579.1:p.Pro181Ser, NP_001107579.1:p.Pro181Thr, NP_001244891.1:p.Pro141Ser, NP_001244891.1:p.Pro141Thr, NP_001244892.1:p.Pro62Ser, NP_001244892.1:p.Pro62Thr

Select item 144255578713.

rs1442555787 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:185514819 (GRCh38)
4:186435973 (GRCh37)
Canonical SPDI:: NC_000004.12:185514818:G:C
Gene:: PDLIM3 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000006/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.185514819G>C, NC_000004.11:g.186435973G>C, NG_032576.3:g.25740C>G, NM_001114107.5:c.402C>G, NM_001114107.4:c.402C>G, NG_083567.1:g.1232G>C, XM_047450072.1:c.402C>G, XM_047450071.1:c.402C>G, NP_001107579.1:p.Asp134Glu, XP_047306028.1:p.Asp134Glu, XP_047306027.1:p.Asp134Glu

Select item 144162817014.

rs1441628170 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:185535408 (GRCh38)
4:186456562 (GRCh37)
Canonical SPDI:: NC_000004.12:185535407:G:A
Gene:: PDLIM3 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.185535408G>A, NC_000004.11:g.186456562G>A, NG_032576.3:g.5151C>T, NM_014476.6:c.27C>T, NM_014476.5:c.27C>T, NM_001114107.5:c.27C>T, NM_001114107.4:c.27C>T, NM_001257962.2:c.27C>T, NM_001257962.1:c.27C>T, NR_047562.2:n.100C>T, NR_047562.1:n.151C>T, NM_001257963.2:c.27C>T, NM_001257963.1:c.27C>T, XM_047450072.1:c.27C>T, XM_047450071.1:c.27C>T

Select item 144035289915.

rs1440352899 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:185525058 (GRCh38)
4:186446212 (GRCh37)
Canonical SPDI:: NC_000004.12:185525057:A:G
Gene:: PDLIM3 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.185525058A>G, NC_000004.11:g.186446212A>G, NG_032576.3:g.15501T>C, NM_014476.6:c.207T>C, NM_014476.5:c.207T>C, NM_001114107.5:c.207T>C, NM_001114107.4:c.207T>C, NM_001257962.2:c.207T>C, NM_001257962.1:c.207T>C, NR_047562.2:n.280T>C, NR_047562.1:n.331T>C, XM_047450072.1:c.207T>C, XM_047450071.1:c.207T>C

Select item 144004389416.

rs1440043894 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:185506627 (GRCh38)
4:186427781 (GRCh37)
Canonical SPDI:: NC_000004.12:185506626:C:T
Gene:: PDLIM3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.185506627C>T, NC_000004.11:g.186427781C>T, NG_032576.3:g.33932G>A, NM_014476.6:c.688G>A, NM_014476.5:c.688G>A, NM_001114107.5:c.544G>A, NM_001114107.4:c.544G>A, NM_001257962.2:c.424G>A, NM_001257962.1:c.424G>A, NR_047562.2:n.429G>A, NR_047562.1:n.480G>A, NM_001257963.2:c.187G>A, NM_001257963.1:c.187G>A, XM_047450072.1:c.*42G>A, NP_055291.2:p.Glu230Lys, NP_001107579.1:p.Glu182Lys, NP_001244891.1:p.Glu142Lys, NP_001244892.1:p.Glu63Lys

Select item 143626368217.

rs1436263682 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:185525120 (GRCh38)
4:186446274 (GRCh37)
Canonical SPDI:: NC_000004.12:185525119:T:C
Gene:: PDLIM3 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000004.12:g.185525120T>C, NC_000004.11:g.186446274T>C, NG_032576.3:g.15439A>G, NM_014476.6:c.145A>G, NM_014476.5:c.145A>G, NM_001114107.5:c.145A>G, NM_001114107.4:c.145A>G, NM_001257962.2:c.145A>G, NM_001257962.1:c.145A>G, NR_047562.2:n.218A>G, NR_047562.1:n.269A>G, XM_047450072.1:c.145A>G, XM_047450071.1:c.145A>G, NP_055291.2:p.Ile49Val, NP_001107579.1:p.Ile49Val, NP_001244891.1:p.Ile49Val, XP_047306028.1:p.Ile49Val, XP_047306027.1:p.Ile49Val

Select item 143351631018.

rs1433516310 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:185502400 (GRCh38)
4:186423554 (GRCh37)
Canonical SPDI:: NC_000004.12:185502399:T:G
Gene:: PDLIM3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.185502400T>G, NC_000004.11:g.186423554T>G, NG_032576.3:g.38159A>C, NM_014476.6:c.989A>C, NM_014476.5:c.989A>C, NM_001114107.5:c.845A>C, NM_001114107.4:c.845A>C, NM_001257962.2:c.725A>C, NM_001257962.1:c.725A>C, NR_047562.2:n.730A>C, NR_047562.1:n.781A>C, NM_001257963.2:c.488A>C, NM_001257963.1:c.488A>C, NP_055291.2:p.Lys330Thr, NP_001107579.1:p.Lys282Thr, NP_001244891.1:p.Lys242Thr, NP_001244892.1:p.Lys163Thr

Select item 142812982119.

rs1428129821 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:185514789 (GRCh38)
4:186435943 (GRCh37)
Canonical SPDI:: NC_000004.12:185514788:G:A,NC_000004.12:185514788:G:C
Gene:: PDLIM3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000006/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.185514789G>A, NC_000004.12:g.185514789G>C, NC_000004.11:g.186435943G>A, NC_000004.11:g.186435943G>C, NG_032576.3:g.25770C>T, NG_032576.3:g.25770C>G, NM_001114107.5:c.432C>T, NM_001114107.5:c.432C>G, NM_001114107.4:c.432C>T, NM_001114107.4:c.432C>G, NG_083567.1:g.1202G>A, NG_083567.1:g.1202G>C, XM_047450072.1:c.432C>T, XM_047450072.1:c.432C>G, XM_047450071.1:c.432C>T, XM_047450071.1:c.432C>G, NP_001107579.1:p.Asn144Lys, XP_047306028.1:p.Asn144Lys, XP_047306027.1:p.Asn144Lys

Select item 142622642420.

rs1426226424 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:185514786 (GRCh38)
4:186435940 (GRCh37)
Canonical SPDI:: NC_000004.12:185514785:C:T
Gene:: PDLIM3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00003/1 (ALFA)
HGVS:: NC_000004.12:g.185514786C>T, NC_000004.11:g.186435940C>T, NG_032576.3:g.25773G>A, NM_001114107.5:c.435G>A, NM_001114107.4:c.435G>A, NG_083567.1:g.1199C>T, XM_047450072.1:c.435G>A, XM_047450071.1:c.435G>A

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