SNP Links for Protein (Select 1070257735) - SNP

Links from Protein

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Select item 14897369681.

rs1489736968 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:77343207 (GRCh38)
14:77809550 (GRCh37)
Canonical SPDI:: NC_000014.9:77343206:T:G
Gene:: TMED8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000071/2 (TOMMO)
HGVS:: NC_000014.9:g.77343207T>G, NC_000014.8:g.77809550T>G, NM_213601.3:c.731A>C, NM_213601.2:c.731A>C, NM_213601.1:c.731A>C, XM_017021224.2:c.542A>C, XM_017021224.1:c.542A>C, NM_001346131.2:c.746A>C, NM_001346131.1:c.746A>C, NM_001346133.2:c.527A>C, NM_001346133.1:c.527A>C, NM_001346134.1:c.527A>C, NP_998766.1:p.Glu244Ala, XP_016876713.1:p.Glu181Ala, NP_001333060.1:p.Glu249Ala, NP_001333062.1:p.Glu176Ala, NP_001333063.1:p.Glu176Ala

Select item 14851722282.

rs1485172228 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:77343386 (GRCh38)
14:77809729 (GRCh37)
Canonical SPDI:: NC_000014.9:77343385:C:T
Gene:: TMED8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.77343386C>T, NC_000014.8:g.77809729C>T, NM_213601.3:c.552G>A, NM_213601.2:c.552G>A, NM_213601.1:c.552G>A, XM_017021224.2:c.363G>A, XM_017021224.1:c.363G>A, NM_001346131.2:c.567G>A, NM_001346131.1:c.567G>A, NM_001346133.2:c.348G>A, NM_001346133.1:c.348G>A, NM_001346134.1:c.348G>A

Select item 14785162683.

rs1478516268 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:77343709 (GRCh38)
14:77810052 (GRCh37)
Canonical SPDI:: NC_000014.9:77343708:C:G
Gene:: TMED8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.77343709C>G, NC_000014.8:g.77810052C>G, NM_213601.3:c.442G>C, NM_213601.2:c.442G>C, NM_213601.1:c.442G>C, XM_017021224.2:c.253G>C, XM_017021224.1:c.253G>C, NM_001346131.2:c.457G>C, NM_001346131.1:c.457G>C, NM_001346133.2:c.238G>C, NM_001346133.1:c.238G>C, NM_001346134.1:c.238G>C, NP_998766.1:p.Asp148His, XP_016876713.1:p.Asp85His, NP_001333060.1:p.Asp153His, NP_001333062.1:p.Asp80His, NP_001333063.1:p.Asp80His

Select item 14747688974.

rs1474768897 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:77343241 (GRCh38)
14:77809584 (GRCh37)
Canonical SPDI:: NC_000014.9:77343240:C:G
Gene:: TMED8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000094/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.77343241C>G, NC_000014.8:g.77809584C>G, NM_213601.3:c.697G>C, NM_213601.2:c.697G>C, NM_213601.1:c.697G>C, XM_017021224.2:c.508G>C, XM_017021224.1:c.508G>C, NM_001346131.2:c.712G>C, NM_001346131.1:c.712G>C, NM_001346133.2:c.493G>C, NM_001346133.1:c.493G>C, NM_001346134.1:c.493G>C, NP_998766.1:p.Val233Leu, XP_016876713.1:p.Val170Leu, NP_001333060.1:p.Val238Leu, NP_001333062.1:p.Val165Leu, NP_001333063.1:p.Val165Leu

Select item 14634753585.

rs1463475358 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:77343436 (GRCh38)
14:77809779 (GRCh37)
Canonical SPDI:: NC_000014.9:77343435:C:A,NC_000014.9:77343435:C:T
Gene:: TMED8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.77343436C>A, NC_000014.9:g.77343436C>T, NC_000014.8:g.77809779C>A, NC_000014.8:g.77809779C>T, NM_213601.3:c.502G>T, NM_213601.3:c.502G>A, NM_213601.2:c.502G>T, NM_213601.2:c.502G>A, NM_213601.1:c.502G>T, NM_213601.1:c.502G>A, XM_017021224.2:c.313G>T, XM_017021224.2:c.313G>A, XM_017021224.1:c.313G>T, XM_017021224.1:c.313G>A, NM_001346131.2:c.517G>T, NM_001346131.2:c.517G>A, NM_001346131.1:c.517G>T, NM_001346131.1:c.517G>A, NM_001346133.2:c.298G>T, NM_001346133.2:c.298G>A, NM_001346133.1:c.298G>T, NM_001346133.1:c.298G>A, NM_001346134.1:c.298G>T, NM_001346134.1:c.298G>A, NP_998766.1:p.Val168Leu, NP_998766.1:p.Val168Met, XP_016876713.1:p.Val105Leu, XP_016876713.1:p.Val105Met, NP_001333060.1:p.Val173Leu, NP_001333060.1:p.Val173Met, NP_001333062.1:p.Val100Leu, NP_001333062.1:p.Val100Met, NP_001333063.1:p.Val100Leu, NP_001333063.1:p.Val100Met

Select item 14578506136.

rs1457850613 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:77346423 (GRCh38)
14:77812766 (GRCh37)
Canonical SPDI:: NC_000014.9:77346422:T:C
Gene:: TMED8 (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)
HGVS:: NC_000014.9:g.77346423T>C, NC_000014.8:g.77812766T>C, NM_213601.3:c.253A>G, NM_213601.2:c.253A>G, NM_213601.1:c.253A>G, XM_017021224.2:c.49A>G, XM_017021224.1:c.49A>G, NM_001346131.2:c.253A>G, NM_001346131.1:c.253A>G, NM_001346133.2:c.49A>G, NM_001346133.1:c.49A>G, NM_001346134.1:c.49A>G, NP_998766.1:p.Thr85Ala, XP_016876713.1:p.Thr17Ala, NP_001333060.1:p.Thr85Ala, NP_001333062.1:p.Thr17Ala, NP_001333063.1:p.Thr17Ala

Select item 14511821757.

rs1451182175 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:77341919 (GRCh38)
14:77808262 (GRCh37)
Canonical SPDI:: NC_000014.9:77341918:A:G
Gene:: TMED8 (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_000014.9:g.77341919A>G, NC_000014.8:g.77808262A>G, NM_213601.3:c.830T>C, NM_213601.2:c.830T>C, NM_213601.1:c.830T>C, XM_017021224.2:c.641T>C, XM_017021224.1:c.641T>C, NM_001346131.2:c.845T>C, NM_001346131.1:c.845T>C, NM_001346133.2:c.626T>C, NM_001346133.1:c.626T>C, NM_001346134.1:c.626T>C, NP_998766.1:p.Met277Thr, XP_016876713.1:p.Met214Thr, NP_001333060.1:p.Met282Thr, NP_001333062.1:p.Met209Thr, NP_001333063.1:p.Met209Thr

Select item 14414964518.

rs1441496451 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAT>- [Show Flanks]
Chromosome:: 14:77343779 (GRCh38)
14:77810122 (GRCh37)
Canonical SPDI:: NC_000014.9:77343776:ATCAT:AT
Gene:: TMED8 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.77343779_77343781del, NC_000014.8:g.77810122_77810124del, NM_213601.3:c.372_374del, NM_213601.2:c.372_374del, NM_213601.1:c.372_374del, XM_017021224.2:c.183_185del, XM_017021224.1:c.183_185del, NM_001346131.2:c.387_389del, NM_001346131.1:c.387_389del, NM_001346133.2:c.168_170del, NM_001346133.1:c.168_170del, NM_001346134.1:c.168_170del, NP_998766.1:p.Met124del, XP_016876713.1:p.Met61del, NP_001333060.1:p.Met129del, NP_001333062.1:p.Met56del, NP_001333063.1:p.Met56del

Select item 14414443969.

rs1441444396 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:77343401 (GRCh38)
14:77809744 (GRCh37)
Canonical SPDI:: NC_000014.9:77343400:C:A
Gene:: TMED8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.77343401C>A, NC_000014.8:g.77809744C>A, NM_213601.3:c.537G>T, NM_213601.2:c.537G>T, NM_213601.1:c.537G>T, XM_017021224.2:c.348G>T, XM_017021224.1:c.348G>T, NM_001346131.2:c.552G>T, NM_001346131.1:c.552G>T, NM_001346133.2:c.333G>T, NM_001346133.1:c.333G>T, NM_001346134.1:c.333G>T, NP_998766.1:p.Lys179Asn, XP_016876713.1:p.Lys116Asn, NP_001333060.1:p.Lys184Asn, NP_001333062.1:p.Lys111Asn, NP_001333063.1:p.Lys111Asn

Select item 144006538810.

rs1440065388 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:77341955 (GRCh38)
14:77808298 (GRCh37)
Canonical SPDI:: NC_000014.9:77341954:G:A
Gene:: TMED8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.77341955G>A, NC_000014.8:g.77808298G>A, NM_213601.3:c.794C>T, NM_213601.2:c.794C>T, NM_213601.1:c.794C>T, XM_017021224.2:c.605C>T, XM_017021224.1:c.605C>T, NM_001346131.2:c.809C>T, NM_001346131.1:c.809C>T, NM_001346133.2:c.590C>T, NM_001346133.1:c.590C>T, NM_001346134.1:c.590C>T, NP_998766.1:p.Ser265Phe, XP_016876713.1:p.Ser202Phe, NP_001333060.1:p.Ser270Phe, NP_001333062.1:p.Ser197Phe, NP_001333063.1:p.Ser197Phe

Select item 142411130411.

rs1424111304 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:77343351 (GRCh38)
14:77809694 (GRCh37)
Canonical SPDI:: NC_000014.9:77343350:G:A
Gene:: TMED8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.77343351G>A, NC_000014.8:g.77809694G>A, NM_213601.3:c.587C>T, NM_213601.2:c.587C>T, NM_213601.1:c.587C>T, XM_017021224.2:c.398C>T, XM_017021224.1:c.398C>T, NM_001346131.2:c.602C>T, NM_001346131.1:c.602C>T, NM_001346133.2:c.383C>T, NM_001346133.1:c.383C>T, NM_001346134.1:c.383C>T, NP_998766.1:p.Pro196Leu, XP_016876713.1:p.Pro133Leu, NP_001333060.1:p.Pro201Leu, NP_001333062.1:p.Pro128Leu, NP_001333063.1:p.Pro128Leu

Select item 141491195512.

rs1414911955 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:77343342 (GRCh38)
14:77809685 (GRCh37)
Canonical SPDI:: NC_000014.9:77343341:G:A
Gene:: TMED8 (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)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.77343342G>A, NC_000014.8:g.77809685G>A, NM_213601.3:c.596C>T, NM_213601.2:c.596C>T, NM_213601.1:c.596C>T, XM_017021224.2:c.407C>T, XM_017021224.1:c.407C>T, NM_001346131.2:c.611C>T, NM_001346131.1:c.611C>T, NM_001346133.2:c.392C>T, NM_001346133.1:c.392C>T, NM_001346134.1:c.392C>T, NP_998766.1:p.Pro199Leu, XP_016876713.1:p.Pro136Leu, NP_001333060.1:p.Pro204Leu, NP_001333062.1:p.Pro131Leu, NP_001333063.1:p.Pro131Leu

Select item 140345162313.

rs1403451623 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:77341985 (GRCh38)
14:77808328 (GRCh37)
Canonical SPDI:: NC_000014.9:77341984:G:C
Gene:: TMED8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.77341985G>C, NC_000014.8:g.77808328G>C, NM_213601.3:c.764C>G, NM_213601.2:c.764C>G, NM_213601.1:c.764C>G, XM_017021224.2:c.575C>G, XM_017021224.1:c.575C>G, NM_001346131.2:c.779C>G, NM_001346131.1:c.779C>G, NM_001346133.2:c.560C>G, NM_001346133.1:c.560C>G, NM_001346134.1:c.560C>G, NP_998766.1:p.Pro255Arg, XP_016876713.1:p.Pro192Arg, NP_001333060.1:p.Pro260Arg, NP_001333062.1:p.Pro187Arg, NP_001333063.1:p.Pro187Arg

Select item 140000716414.

rs1400007164 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:77341783 (GRCh38)
14:77808126 (GRCh37)
Canonical SPDI:: NC_000014.9:77341782:G:A
Gene:: TMED8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.77341783G>A, NC_000014.8:g.77808126G>A, NM_213601.3:c.966C>T, NM_213601.2:c.966C>T, NM_213601.1:c.966C>T, XM_017021224.2:c.777C>T, XM_017021224.1:c.777C>T, NM_001346131.2:c.981C>T, NM_001346131.1:c.981C>T, NM_001346133.2:c.762C>T, NM_001346133.1:c.762C>T, NM_001346134.1:c.762C>T

Select item 139986359615.

rs1399863596 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:77343822 (GRCh38)
14:77810165 (GRCh37)
Canonical SPDI:: NC_000014.9:77343821:A:G
Gene:: TMED8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.77343822A>G, NC_000014.8:g.77810165A>G, NM_213601.3:c.329T>C, NM_213601.2:c.329T>C, NM_213601.1:c.329T>C, XM_017021224.2:c.140T>C, XM_017021224.1:c.140T>C, NM_001346131.2:c.344T>C, NM_001346131.1:c.344T>C, NM_001346133.2:c.125T>C, NM_001346133.1:c.125T>C, NM_001346134.1:c.125T>C, NP_998766.1:p.Met110Thr, XP_016876713.1:p.Met47Thr, NP_001333060.1:p.Met115Thr, NP_001333062.1:p.Met42Thr, NP_001333063.1:p.Met42Thr

Select item 139070757316.

rs1390707573 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 14:77343732 (GRCh38)
14:77810075 (GRCh37)
Canonical SPDI:: NC_000014.9:77343731:AAA:AA
Gene:: TMED8 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.77343734del, NC_000014.8:g.77810077del, NM_213601.3:c.419del, NM_213601.2:c.419del, NM_213601.1:c.419del, XM_017021224.2:c.230del, XM_017021224.1:c.230del, NM_001346131.2:c.434del, NM_001346131.1:c.434del, NM_001346133.2:c.215del, NM_001346133.1:c.215del, NM_001346134.1:c.215del, NP_998766.1:p.Leu140fs, XP_016876713.1:p.Leu77fs, NP_001333060.1:p.Leu145fs, NP_001333062.1:p.Leu72fs, NP_001333063.1:p.Leu72fs

Select item 139000600917.

rs1390006009 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:77343478 (GRCh38)
14:77809821 (GRCh37)
Canonical SPDI:: NC_000014.9:77343477:G:A
Gene:: TMED8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.77343478G>A, NC_000014.8:g.77809821G>A, NM_213601.3:c.460C>T, NM_213601.2:c.460C>T, NM_213601.1:c.460C>T, XM_017021224.2:c.271C>T, XM_017021224.1:c.271C>T, NM_001346131.2:c.475C>T, NM_001346131.1:c.475C>T, NM_001346133.2:c.256C>T, NM_001346133.1:c.256C>T, NM_001346134.1:c.256C>T, NP_998766.1:p.Pro154Ser, XP_016876713.1:p.Pro91Ser, NP_001333060.1:p.Pro159Ser, NP_001333062.1:p.Pro86Ser, NP_001333063.1:p.Pro86Ser

Select item 138949304318.

rs1389493043 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:77341949 (GRCh38)
14:77808292 (GRCh37)
Canonical SPDI:: NC_000014.9:77341948:C:T
Gene:: TMED8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.77341949C>T, NC_000014.8:g.77808292C>T, NM_213601.3:c.800G>A, NM_213601.2:c.800G>A, NM_213601.1:c.800G>A, XM_017021224.2:c.611G>A, XM_017021224.1:c.611G>A, NM_001346131.2:c.815G>A, NM_001346131.1:c.815G>A, NM_001346133.2:c.596G>A, NM_001346133.1:c.596G>A, NM_001346134.1:c.596G>A, NP_998766.1:p.Ser267Asn, XP_016876713.1:p.Ser204Asn, NP_001333060.1:p.Ser272Asn, NP_001333062.1:p.Ser199Asn, NP_001333063.1:p.Ser199Asn

Select item 138180145919.

rs1381801459 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:77343375 (GRCh38)
14:77809718 (GRCh37)
Canonical SPDI:: NC_000014.9:77343374:C:A
Gene:: TMED8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.77343375C>A, NC_000014.8:g.77809718C>A, NM_213601.3:c.563G>T, NM_213601.2:c.563G>T, NM_213601.1:c.563G>T, XM_017021224.2:c.374G>T, XM_017021224.1:c.374G>T, NM_001346131.2:c.578G>T, NM_001346131.1:c.578G>T, NM_001346133.2:c.359G>T, NM_001346133.1:c.359G>T, NM_001346134.1:c.359G>T, NP_998766.1:p.Gly188Val, XP_016876713.1:p.Gly125Val, NP_001333060.1:p.Gly193Val, NP_001333062.1:p.Gly120Val, NP_001333063.1:p.Gly120Val

Select item 137563068820.

rs1375630688 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:77346422 (GRCh38)
14:77812765 (GRCh37)
Canonical SPDI:: NC_000014.9:77346421:G:C
Gene:: TMED8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.77346422G>C, NC_000014.8:g.77812765G>C, NM_213601.3:c.254C>G, NM_213601.2:c.254C>G, NM_213601.1:c.254C>G, XM_017021224.2:c.50C>G, XM_017021224.1:c.50C>G, NM_001346131.2:c.254C>G, NM_001346131.1:c.254C>G, NM_001346133.2:c.50C>G, NM_001346133.1:c.50C>G, NM_001346134.1:c.50C>G, NP_998766.1:p.Thr85Ser, XP_016876713.1:p.Thr17Ser, NP_001333060.1:p.Thr85Ser, NP_001333062.1:p.Thr17Ser, NP_001333063.1:p.Thr17Ser

dbSNP

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