SNP Links for Protein (Select 18780273) - SNP

Links from Protein

Items: 1 to 20 of 994

<< First< Prev

Page of 50

Next >Last >>

Select item 14906712941.

rs1490671294 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:56060780 (GRCh38)
6:55925578 (GRCh37)
Canonical SPDI:: NC_000006.12:56060779:C:G
Gene:: COL21A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.56060780C>G, NC_000006.11:g.55925578C>G, XM_011514925.4:c.2368G>C, XM_011514925.3:c.2368G>C, XM_011514925.2:c.2368G>C, XM_011514925.1:c.2368G>C, NM_030820.4:c.2368G>C, NM_030820.3:c.2368G>C, XM_011514924.3:c.2368G>C, XM_011514924.2:c.2368G>C, XM_011514924.1:c.2368G>C, NM_001318751.2:c.2368G>C, NM_001318751.1:c.2368G>C, NR_134850.2:n.2617G>C, NR_134850.1:n.2617G>C, NR_134849.2:n.2592G>C, NR_134849.1:n.2592G>C, NR_134851.2:n.2589G>C, NR_134851.1:n.2589G>C, XM_006715223.2:c.2332G>C, XM_006715223.1:c.2332G>C, NM_001318752.2:c.2359G>C, NM_001318752.1:c.2359G>C, XM_011514926.2:c.2368G>C, XM_011514926.1:c.2368G>C, NM_001318753.2:c.562G>C, NM_001318753.1:c.562G>C, NM_001318754.2:c.439G>C, NM_001318754.1:c.439G>C, XM_047419383.1:c.2368G>C, XM_011514927.1:c.2368G>C, XP_011513227.1:p.Glu790Gln, NP_110447.2:p.Glu790Gln, XP_011513226.1:p.Glu790Gln, NP_001305680.1:p.Glu790Gln, XP_006715286.1:p.Glu778Gln, NP_001305681.1:p.Glu787Gln, XP_011513228.1:p.Glu790Gln, NP_001305682.1:p.Glu188Gln, NP_001305683.1:p.Glu147Gln, XP_047275339.1:p.Glu790Gln, XP_011513229.1:p.Glu790Gln

Select item 14904152012.

rs1490415201 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:56179991 (GRCh38)
6:56044789 (GRCh37)
Canonical SPDI:: NC_000006.12:56179990:A:G
Gene:: COL21A1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.56179991A>G, NC_000006.11:g.56044789A>G, XM_011514925.4:c.227T>C, XM_011514925.3:c.227T>C, XM_011514925.2:c.227T>C, XM_011514925.1:c.227T>C, NM_030820.4:c.227T>C, NM_030820.3:c.227T>C, XM_011514924.3:c.227T>C, XM_011514924.2:c.227T>C, XM_011514924.1:c.227T>C, NM_001318751.2:c.227T>C, NM_001318751.1:c.227T>C, NR_134850.2:n.459T>C, NR_134850.1:n.459T>C, NR_134849.2:n.459T>C, NR_134849.1:n.459T>C, NR_134851.2:n.459T>C, NR_134851.1:n.459T>C, XM_006715223.2:c.227T>C, XM_006715223.1:c.227T>C, NM_001318752.2:c.227T>C, NM_001318752.1:c.227T>C, XM_011514926.2:c.227T>C, XM_011514926.1:c.227T>C, XM_047419383.1:c.227T>C, XM_011514927.1:c.227T>C, XP_011513227.1:p.Val76Ala, NP_110447.2:p.Val76Ala, XP_011513226.1:p.Val76Ala, NP_001305680.1:p.Val76Ala, XP_006715286.1:p.Val76Ala, NP_001305681.1:p.Val76Ala, XP_011513228.1:p.Val76Ala, XP_047275339.1:p.Val76Ala, XP_011513229.1:p.Val76Ala

Select item 14902614443.

rs1490261444 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:56180098 (GRCh38)
6:56044896 (GRCh37)
Canonical SPDI:: NC_000006.12:56180097:G:A
Gene:: COL21A1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.56180098G>A, NC_000006.11:g.56044896G>A, XM_011514925.4:c.120C>T, XM_011514925.3:c.120C>T, XM_011514925.2:c.120C>T, XM_011514925.1:c.120C>T, NM_030820.4:c.120C>T, NM_030820.3:c.120C>T, XM_011514924.3:c.120C>T, XM_011514924.2:c.120C>T, XM_011514924.1:c.120C>T, NM_001318751.2:c.120C>T, NM_001318751.1:c.120C>T, NR_134850.2:n.352C>T, NR_134850.1:n.352C>T, NR_134849.2:n.352C>T, NR_134849.1:n.352C>T, NR_134851.2:n.352C>T, NR_134851.1:n.352C>T, XM_006715223.2:c.120C>T, XM_006715223.1:c.120C>T, NM_001318752.2:c.120C>T, NM_001318752.1:c.120C>T, XM_011514926.2:c.120C>T, XM_011514926.1:c.120C>T, XM_047419383.1:c.120C>T, XM_011514927.1:c.120C>T

Select item 14895884794.

rs1489588479 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:56057759 (GRCh38)
6:55922557 (GRCh37)
Canonical SPDI:: NC_000006.12:56057758:A:G
Gene:: COL21A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.56057759A>G, NC_000006.11:g.55922557A>G, XM_011514925.4:c.2772T>C, XM_011514925.3:c.2772T>C, XM_011514925.2:c.2772T>C, XM_011514925.1:c.2772T>C, NM_030820.4:c.2772T>C, NM_030820.3:c.2772T>C, XM_011514924.3:c.2772T>C, XM_011514924.2:c.2772T>C, XM_011514924.1:c.2772T>C, NM_001318751.2:c.2772T>C, NM_001318751.1:c.2772T>C, NR_134850.2:n.3021T>C, NR_134850.1:n.3021T>C, NR_134849.2:n.2996T>C, NR_134849.1:n.2996T>C, NR_134851.2:n.2993T>C, NR_134851.1:n.2993T>C, XM_006715223.2:c.2736T>C, XM_006715223.1:c.2736T>C, NM_001318752.2:c.2763T>C, NM_001318752.1:c.2763T>C, XM_011514926.2:c.2772T>C, XM_011514926.1:c.2772T>C, NM_001318753.2:c.966T>C, NM_001318753.1:c.966T>C, NM_001318754.2:c.843T>C, NM_001318754.1:c.843T>C, XM_047419383.1:c.2772T>C, XM_011514927.1:c.2772T>C

Select item 14864833465.

rs1486483346 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:56179974 (GRCh38)
6:56044772 (GRCh37)
Canonical SPDI:: NC_000006.12:56179973:T:A
Gene:: COL21A1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.56179974T>A, NC_000006.11:g.56044772T>A, XM_011514925.4:c.244A>T, XM_011514925.3:c.244A>T, XM_011514925.2:c.244A>T, XM_011514925.1:c.244A>T, NM_030820.4:c.244A>T, NM_030820.3:c.244A>T, XM_011514924.3:c.244A>T, XM_011514924.2:c.244A>T, XM_011514924.1:c.244A>T, NM_001318751.2:c.244A>T, NM_001318751.1:c.244A>T, NR_134850.2:n.476A>T, NR_134850.1:n.476A>T, NR_134849.2:n.476A>T, NR_134849.1:n.476A>T, NR_134851.2:n.476A>T, NR_134851.1:n.476A>T, XM_006715223.2:c.244A>T, XM_006715223.1:c.244A>T, NM_001318752.2:c.244A>T, NM_001318752.1:c.244A>T, XM_011514926.2:c.244A>T, XM_011514926.1:c.244A>T, XM_047419383.1:c.244A>T, XM_011514927.1:c.244A>T, XP_011513227.1:p.Ser82Cys, NP_110447.2:p.Ser82Cys, XP_011513226.1:p.Ser82Cys, NP_001305680.1:p.Ser82Cys, XP_006715286.1:p.Ser82Cys, NP_001305681.1:p.Ser82Cys, XP_011513228.1:p.Ser82Cys, XP_047275339.1:p.Ser82Cys, XP_011513229.1:p.Ser82Cys

Select item 14862389376.

rs1486238937 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:56060104 (GRCh38)
6:55924902 (GRCh37)
Canonical SPDI:: NC_000006.12:56060103:G:A,NC_000006.12:56060103:G:C
Gene:: COL21A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.00004/1 (TOMMO)
HGVS:: NC_000006.12:g.56060104G>A, NC_000006.12:g.56060104G>C, NC_000006.11:g.55924902G>A, NC_000006.11:g.55924902G>C, XM_011514925.4:c.2522C>T, XM_011514925.4:c.2522C>G, XM_011514925.3:c.2522C>T, XM_011514925.3:c.2522C>G, XM_011514925.2:c.2522C>T, XM_011514925.2:c.2522C>G, XM_011514925.1:c.2522C>T, XM_011514925.1:c.2522C>G, NM_030820.4:c.2522C>T, NM_030820.4:c.2522C>G, NM_030820.3:c.2522C>T, NM_030820.3:c.2522C>G, XM_011514924.3:c.2522C>T, XM_011514924.3:c.2522C>G, XM_011514924.2:c.2522C>T, XM_011514924.2:c.2522C>G, XM_011514924.1:c.2522C>T, XM_011514924.1:c.2522C>G, NM_001318751.2:c.2522C>T, NM_001318751.2:c.2522C>G, NM_001318751.1:c.2522C>T, NM_001318751.1:c.2522C>G, NR_134850.2:n.2771C>T, NR_134850.2:n.2771C>G, NR_134850.1:n.2771C>T, NR_134850.1:n.2771C>G, NR_134849.2:n.2746C>T, NR_134849.2:n.2746C>G, NR_134849.1:n.2746C>T, NR_134849.1:n.2746C>G, NR_134851.2:n.2743C>T, NR_134851.2:n.2743C>G, NR_134851.1:n.2743C>T, NR_134851.1:n.2743C>G, XM_006715223.2:c.2486C>T, XM_006715223.2:c.2486C>G, XM_006715223.1:c.2486C>T, XM_006715223.1:c.2486C>G, NM_001318752.2:c.2513C>T, NM_001318752.2:c.2513C>G, NM_001318752.1:c.2513C>T, NM_001318752.1:c.2513C>G, XM_011514926.2:c.2522C>T, XM_011514926.2:c.2522C>G, XM_011514926.1:c.2522C>T, XM_011514926.1:c.2522C>G, NM_001318753.2:c.716C>T, NM_001318753.2:c.716C>G, NM_001318753.1:c.716C>T, NM_001318753.1:c.716C>G, NM_001318754.2:c.593C>T, NM_001318754.2:c.593C>G, NM_001318754.1:c.593C>T, NM_001318754.1:c.593C>G, XM_047419383.1:c.2522C>T, XM_047419383.1:c.2522C>G, XM_011514927.1:c.2522C>T, XM_011514927.1:c.2522C>G, XP_011513227.1:p.Pro841Leu, XP_011513227.1:p.Pro841Arg, NP_110447.2:p.Pro841Leu, NP_110447.2:p.Pro841Arg, XP_011513226.1:p.Pro841Leu, XP_011513226.1:p.Pro841Arg, NP_001305680.1:p.Pro841Leu, NP_001305680.1:p.Pro841Arg, XP_006715286.1:p.Pro829Leu, XP_006715286.1:p.Pro829Arg, NP_001305681.1:p.Pro838Leu, NP_001305681.1:p.Pro838Arg, XP_011513228.1:p.Pro841Leu, XP_011513228.1:p.Pro841Arg, NP_001305682.1:p.Pro239Leu, NP_001305682.1:p.Pro239Arg, NP_001305683.1:p.Pro198Leu, NP_001305683.1:p.Pro198Arg, XP_047275339.1:p.Pro841Leu, XP_047275339.1:p.Pro841Arg, XP_011513229.1:p.Pro841Leu, XP_011513229.1:p.Pro841Arg

Select item 14862183027.

rs1486218302 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:56069061 (GRCh38)
6:55933859 (GRCh37)
Canonical SPDI:: NC_000006.12:56069060:C:G
Gene:: COL21A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant,non_coding_transcript_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_000006.12:g.56069061C>G, NC_000006.11:g.55933859C>G, XM_011514925.4:c.2076G>C, XM_011514925.3:c.2076G>C, XM_011514925.2:c.2076G>C, XM_011514925.1:c.2076G>C, NM_030820.4:c.2076G>C, NM_030820.3:c.2076G>C, XM_011514924.3:c.2076G>C, XM_011514924.2:c.2076G>C, XM_011514924.1:c.2076G>C, NM_001318751.2:c.2076G>C, NM_001318751.1:c.2076G>C, NR_134850.2:n.2325G>C, NR_134850.1:n.2325G>C, NR_134849.2:n.2300G>C, NR_134849.1:n.2300G>C, NR_134851.2:n.2333G>C, NR_134851.1:n.2333G>C, XM_006715223.2:c.2076G>C, XM_006715223.1:c.2076G>C, NM_001318752.2:c.2067G>C, NM_001318752.1:c.2067G>C, XM_011514926.2:c.2076G>C, XM_011514926.1:c.2076G>C, NM_001318753.2:c.270G>C, NM_001318753.1:c.270G>C, NM_001318754.2:c.149G>C, NM_001318754.1:c.149G>C, XM_047419383.1:c.2076G>C, XM_011514927.1:c.2076G>C, NP_001305683.1:p.Gly50Ala

Select item 14847449058.

rs1484744905 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:56171086 (GRCh38)
6:56035884 (GRCh37)
Canonical SPDI:: NC_000006.12:56171085:T:G
Gene:: COL21A1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.56171086T>G, NC_000006.11:g.56035884T>G, XM_011514925.4:c.683A>C, XM_011514925.3:c.683A>C, XM_011514925.2:c.683A>C, XM_011514925.1:c.683A>C, NM_030820.4:c.683A>C, NM_030820.3:c.683A>C, XM_011514924.3:c.683A>C, XM_011514924.2:c.683A>C, XM_011514924.1:c.683A>C, NM_001318751.2:c.683A>C, NM_001318751.1:c.683A>C, NR_134850.2:n.915A>C, NR_134850.1:n.915A>C, NR_134849.2:n.915A>C, NR_134849.1:n.915A>C, NR_134851.2:n.915A>C, NR_134851.1:n.915A>C, XM_006715223.2:c.683A>C, XM_006715223.1:c.683A>C, NM_001318752.2:c.683A>C, NM_001318752.1:c.683A>C, XM_011514926.2:c.683A>C, XM_011514926.1:c.683A>C, XM_047419383.1:c.683A>C, XM_011514927.1:c.683A>C, XP_011513227.1:p.Glu228Ala, NP_110447.2:p.Glu228Ala, XP_011513226.1:p.Glu228Ala, NP_001305680.1:p.Glu228Ala, XP_006715286.1:p.Glu228Ala, NP_001305681.1:p.Glu228Ala, XP_011513228.1:p.Glu228Ala, XP_047275339.1:p.Glu228Ala, XP_011513229.1:p.Glu228Ala

Select item 14845401769.

rs1484540176 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:56179731 (GRCh38)
6:56044529 (GRCh37)
Canonical SPDI:: NC_000006.12:56179730:T:A
Gene:: COL21A1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.56179731T>A, NC_000006.11:g.56044529T>A, XM_011514925.4:c.487A>T, XM_011514925.3:c.487A>T, XM_011514925.2:c.487A>T, XM_011514925.1:c.487A>T, NM_030820.4:c.487A>T, NM_030820.3:c.487A>T, XM_011514924.3:c.487A>T, XM_011514924.2:c.487A>T, XM_011514924.1:c.487A>T, NM_001318751.2:c.487A>T, NM_001318751.1:c.487A>T, NR_134850.2:n.719A>T, NR_134850.1:n.719A>T, NR_134849.2:n.719A>T, NR_134849.1:n.719A>T, NR_134851.2:n.719A>T, NR_134851.1:n.719A>T, XM_006715223.2:c.487A>T, XM_006715223.1:c.487A>T, NM_001318752.2:c.487A>T, NM_001318752.1:c.487A>T, XM_011514926.2:c.487A>T, XM_011514926.1:c.487A>T, XM_047419383.1:c.487A>T, XM_011514927.1:c.487A>T, XP_011513227.1:p.Ile163Leu, NP_110447.2:p.Ile163Leu, XP_011513226.1:p.Ile163Leu, NP_001305680.1:p.Ile163Leu, XP_006715286.1:p.Ile163Leu, NP_001305681.1:p.Ile163Leu, XP_011513228.1:p.Ile163Leu, XP_047275339.1:p.Ile163Leu, XP_011513229.1:p.Ile163Leu

Select item 148392176010.

rs1483921760 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:56171114 (GRCh38)
6:56035912 (GRCh37)
Canonical SPDI:: NC_000006.12:56171113:T:A,NC_000006.12:56171113:T:C
Gene:: COL21A1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_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_000006.12:g.56171114T>A, NC_000006.12:g.56171114T>C, NC_000006.11:g.56035912T>A, NC_000006.11:g.56035912T>C, XM_011514925.4:c.655A>T, XM_011514925.4:c.655A>G, XM_011514925.3:c.655A>T, XM_011514925.3:c.655A>G, XM_011514925.2:c.655A>T, XM_011514925.2:c.655A>G, XM_011514925.1:c.655A>T, XM_011514925.1:c.655A>G, NM_030820.4:c.655A>T, NM_030820.4:c.655A>G, NM_030820.3:c.655A>T, NM_030820.3:c.655A>G, XM_011514924.3:c.655A>T, XM_011514924.3:c.655A>G, XM_011514924.2:c.655A>T, XM_011514924.2:c.655A>G, XM_011514924.1:c.655A>T, XM_011514924.1:c.655A>G, NM_001318751.2:c.655A>T, NM_001318751.2:c.655A>G, NM_001318751.1:c.655A>T, NM_001318751.1:c.655A>G, NR_134850.2:n.887A>T, NR_134850.2:n.887A>G, NR_134850.1:n.887A>T, NR_134850.1:n.887A>G, NR_134849.2:n.887A>T, NR_134849.2:n.887A>G, NR_134849.1:n.887A>T, NR_134849.1:n.887A>G, NR_134851.2:n.887A>T, NR_134851.2:n.887A>G, NR_134851.1:n.887A>T, NR_134851.1:n.887A>G, XM_006715223.2:c.655A>T, XM_006715223.2:c.655A>G, XM_006715223.1:c.655A>T, XM_006715223.1:c.655A>G, NM_001318752.2:c.655A>T, NM_001318752.2:c.655A>G, NM_001318752.1:c.655A>T, NM_001318752.1:c.655A>G, XM_011514926.2:c.655A>T, XM_011514926.2:c.655A>G, XM_011514926.1:c.655A>T, XM_011514926.1:c.655A>G, XM_047419383.1:c.655A>T, XM_047419383.1:c.655A>G, XM_011514927.1:c.655A>T, XM_011514927.1:c.655A>G, XP_011513227.1:p.Thr219Ser, XP_011513227.1:p.Thr219Ala, NP_110447.2:p.Thr219Ser, NP_110447.2:p.Thr219Ala, XP_011513226.1:p.Thr219Ser, XP_011513226.1:p.Thr219Ala, NP_001305680.1:p.Thr219Ser, NP_001305680.1:p.Thr219Ala, XP_006715286.1:p.Thr219Ser, XP_006715286.1:p.Thr219Ala, NP_001305681.1:p.Thr219Ser, NP_001305681.1:p.Thr219Ala, XP_011513228.1:p.Thr219Ser, XP_011513228.1:p.Thr219Ala, XP_047275339.1:p.Thr219Ser, XP_047275339.1:p.Thr219Ala, XP_011513229.1:p.Thr219Ser, XP_011513229.1:p.Thr219Ala

Select item 148258855111.

rs1482588551 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:56077530 (GRCh38)
6:55942328 (GRCh37)
Canonical SPDI:: NC_000006.12:56077529:T:C,NC_000006.12:56077529:T:G
Gene:: COL21A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000019/4 (GnomAD_exomes)
HGVS:: NC_000006.12:g.56077530T>C, NC_000006.12:g.56077530T>G, NC_000006.11:g.55942328T>C, NC_000006.11:g.55942328T>G, XM_011514925.4:c.1856A>G, XM_011514925.4:c.1856A>C, XM_011514925.3:c.1856A>G, XM_011514925.3:c.1856A>C, XM_011514925.2:c.1856A>G, XM_011514925.2:c.1856A>C, XM_011514925.1:c.1856A>G, XM_011514925.1:c.1856A>C, NM_030820.4:c.1856A>G, NM_030820.4:c.1856A>C, NM_030820.3:c.1856A>G, NM_030820.3:c.1856A>C, XM_011514924.3:c.1856A>G, XM_011514924.3:c.1856A>C, XM_011514924.2:c.1856A>G, XM_011514924.2:c.1856A>C, XM_011514924.1:c.1856A>G, XM_011514924.1:c.1856A>C, NM_001318751.2:c.1856A>G, NM_001318751.2:c.1856A>C, NM_001318751.1:c.1856A>G, NM_001318751.1:c.1856A>C, NR_134850.2:n.2105A>G, NR_134850.2:n.2105A>C, NR_134850.1:n.2105A>G, NR_134850.1:n.2105A>C, NR_134849.2:n.2080A>G, NR_134849.2:n.2080A>C, NR_134849.1:n.2080A>G, NR_134849.1:n.2080A>C, NR_134851.2:n.2113A>G, NR_134851.2:n.2113A>C, NR_134851.1:n.2113A>G, NR_134851.1:n.2113A>C, XM_006715223.2:c.1856A>G, XM_006715223.2:c.1856A>C, XM_006715223.1:c.1856A>G, XM_006715223.1:c.1856A>C, NM_001318752.2:c.1847A>G, NM_001318752.2:c.1847A>C, NM_001318752.1:c.1847A>G, NM_001318752.1:c.1847A>C, XM_011514926.2:c.1856A>G, XM_011514926.2:c.1856A>C, XM_011514926.1:c.1856A>G, XM_011514926.1:c.1856A>C, NM_001318753.2:c.50A>G, NM_001318753.2:c.50A>C, NM_001318753.1:c.50A>G, NM_001318753.1:c.50A>C, NM_001318754.2:c.-72A>G, NM_001318754.2:c.-72A>C, NM_001318754.1:c.-72A>G, NM_001318754.1:c.-72A>C, XM_047419383.1:c.1856A>G, XM_047419383.1:c.1856A>C, XM_011514927.1:c.1856A>G, XM_011514927.1:c.1856A>C, XP_011513227.1:p.Lys619Arg, XP_011513227.1:p.Lys619Thr, NP_110447.2:p.Lys619Arg, NP_110447.2:p.Lys619Thr, XP_011513226.1:p.Lys619Arg, XP_011513226.1:p.Lys619Thr, NP_001305680.1:p.Lys619Arg, NP_001305680.1:p.Lys619Thr, XP_006715286.1:p.Lys619Arg, XP_006715286.1:p.Lys619Thr, NP_001305681.1:p.Lys616Arg, NP_001305681.1:p.Lys616Thr, XP_011513228.1:p.Lys619Arg, XP_011513228.1:p.Lys619Thr, NP_001305682.1:p.Lys17Arg, NP_001305682.1:p.Lys17Thr, XP_047275339.1:p.Lys619Arg, XP_047275339.1:p.Lys619Thr, XP_011513229.1:p.Lys619Arg, XP_011513229.1:p.Lys619Thr

Select item 148077477412.

rs1480774774 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:56125611 (GRCh38)
6:55990409 (GRCh37)
Canonical SPDI:: NC_000006.12:56125610:C:T
Gene:: COL21A1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000006.12:g.56125611C>T, NC_000006.11:g.55990409C>T, XM_011514925.4:c.1606G>A, XM_011514925.3:c.1606G>A, XM_011514925.2:c.1606G>A, XM_011514925.1:c.1606G>A, NM_030820.4:c.1606G>A, NM_030820.3:c.1606G>A, XM_011514924.3:c.1606G>A, XM_011514924.2:c.1606G>A, XM_011514924.1:c.1606G>A, NM_001318751.2:c.1606G>A, NM_001318751.1:c.1606G>A, NR_134850.2:n.1830G>A, NR_134850.1:n.1830G>A, NR_134849.2:n.1830G>A, NR_134849.1:n.1830G>A, NR_134851.2:n.1838G>A, NR_134851.1:n.1838G>A, XM_006715223.2:c.1606G>A, XM_006715223.1:c.1606G>A, NM_001318752.2:c.1597G>A, NM_001318752.1:c.1597G>A, XM_011514926.2:c.1606G>A, XM_011514926.1:c.1606G>A, XM_047419383.1:c.1606G>A, XM_011514927.1:c.1606G>A, XP_011513227.1:p.Gly536Ser, NP_110447.2:p.Gly536Ser, XP_011513226.1:p.Gly536Ser, NP_001305680.1:p.Gly536Ser, XP_006715286.1:p.Gly536Ser, NP_001305681.1:p.Gly533Ser, XP_011513228.1:p.Gly536Ser, XP_047275339.1:p.Gly536Ser, XP_011513229.1:p.Gly536Ser

Select item 148030976913.

rs1480309769 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:56179957 (GRCh38)
6:56044755 (GRCh37)
Canonical SPDI:: NC_000006.12:56179956:C:T
Gene:: COL21A1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.56179957C>T, NC_000006.11:g.56044755C>T, XM_011514925.4:c.261G>A, XM_011514925.3:c.261G>A, XM_011514925.2:c.261G>A, XM_011514925.1:c.261G>A, NM_030820.4:c.261G>A, NM_030820.3:c.261G>A, XM_011514924.3:c.261G>A, XM_011514924.2:c.261G>A, XM_011514924.1:c.261G>A, NM_001318751.2:c.261G>A, NM_001318751.1:c.261G>A, NR_134850.2:n.493G>A, NR_134850.1:n.493G>A, NR_134849.2:n.493G>A, NR_134849.1:n.493G>A, NR_134851.2:n.493G>A, NR_134851.1:n.493G>A, XM_006715223.2:c.261G>A, XM_006715223.1:c.261G>A, NM_001318752.2:c.261G>A, NM_001318752.1:c.261G>A, XM_011514926.2:c.261G>A, XM_011514926.1:c.261G>A, XM_047419383.1:c.261G>A, XM_011514927.1:c.261G>A

Select item 147959702214.

rs1479597022 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:56156931 (GRCh38)
6:56021729 (GRCh37)
Canonical SPDI:: NC_000006.12:56156930:C:T
Gene:: COL21A1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.56156931C>T, NC_000006.11:g.56021729C>T, XM_011514925.4:c.1390G>A, XM_011514925.3:c.1390G>A, XM_011514925.2:c.1390G>A, XM_011514925.1:c.1390G>A, NM_030820.4:c.1390G>A, NM_030820.3:c.1390G>A, XM_011514924.3:c.1390G>A, XM_011514924.2:c.1390G>A, XM_011514924.1:c.1390G>A, NM_001318751.2:c.1390G>A, NM_001318751.1:c.1390G>A, NR_134850.2:n.1622G>A, NR_134850.1:n.1622G>A, NR_134849.2:n.1622G>A, NR_134849.1:n.1622G>A, NR_134851.2:n.1622G>A, NR_134851.1:n.1622G>A, XM_006715223.2:c.1390G>A, XM_006715223.1:c.1390G>A, NM_001318752.2:c.1381G>A, NM_001318752.1:c.1381G>A, XM_011514926.2:c.1390G>A, XM_011514926.1:c.1390G>A, XM_047419383.1:c.1390G>A, XM_011514927.1:c.1390G>A, XP_011513227.1:p.Gly464Arg, NP_110447.2:p.Gly464Arg, XP_011513226.1:p.Gly464Arg, NP_001305680.1:p.Gly464Arg, XP_006715286.1:p.Gly464Arg, NP_001305681.1:p.Gly461Arg, XP_011513228.1:p.Gly464Arg, XP_047275339.1:p.Gly464Arg, XP_011513229.1:p.Gly464Arg

Select item 147785153115.

rs1477851531 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:56101504 (GRCh38)
6:55966302 (GRCh37)
Canonical SPDI:: NC_000006.12:56101503:C:G,NC_000006.12:56101503:C:T
Gene:: COL21A1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.56101504C>G, NC_000006.12:g.56101504C>T, NC_000006.11:g.55966302C>G, NC_000006.11:g.55966302C>T, XM_011514925.4:c.1780G>C, XM_011514925.4:c.1780G>A, XM_011514925.3:c.1780G>C, XM_011514925.3:c.1780G>A, XM_011514925.2:c.1780G>C, XM_011514925.2:c.1780G>A, XM_011514925.1:c.1780G>C, XM_011514925.1:c.1780G>A, NM_030820.4:c.1780G>C, NM_030820.4:c.1780G>A, NM_030820.3:c.1780G>C, NM_030820.3:c.1780G>A, XM_011514924.3:c.1780G>C, XM_011514924.3:c.1780G>A, XM_011514924.2:c.1780G>C, XM_011514924.2:c.1780G>A, XM_011514924.1:c.1780G>C, XM_011514924.1:c.1780G>A, NM_001318751.2:c.1780G>C, NM_001318751.2:c.1780G>A, NM_001318751.1:c.1780G>C, NM_001318751.1:c.1780G>A, NR_134850.2:n.2029G>C, NR_134850.2:n.2029G>A, NR_134850.1:n.2029G>C, NR_134850.1:n.2029G>A, NR_134849.2:n.2004G>C, NR_134849.2:n.2004G>A, NR_134849.1:n.2004G>C, NR_134849.1:n.2004G>A, NR_134851.2:n.2037G>C, NR_134851.2:n.2037G>A, NR_134851.1:n.2037G>C, NR_134851.1:n.2037G>A, XM_006715223.2:c.1780G>C, XM_006715223.2:c.1780G>A, XM_006715223.1:c.1780G>C, XM_006715223.1:c.1780G>A, NM_001318752.2:c.1771G>C, NM_001318752.2:c.1771G>A, NM_001318752.1:c.1771G>C, NM_001318752.1:c.1771G>A, XM_011514926.2:c.1780G>C, XM_011514926.2:c.1780G>A, XM_011514926.1:c.1780G>C, XM_011514926.1:c.1780G>A, XM_047419383.1:c.1780G>C, XM_047419383.1:c.1780G>A, XM_011514927.1:c.1780G>C, XM_011514927.1:c.1780G>A, XP_011513227.1:p.Ala594Pro, XP_011513227.1:p.Ala594Thr, NP_110447.2:p.Ala594Pro, NP_110447.2:p.Ala594Thr, XP_011513226.1:p.Ala594Pro, XP_011513226.1:p.Ala594Thr, NP_001305680.1:p.Ala594Pro, NP_001305680.1:p.Ala594Thr, XP_006715286.1:p.Ala594Pro, XP_006715286.1:p.Ala594Thr, NP_001305681.1:p.Ala591Pro, NP_001305681.1:p.Ala591Thr, XP_011513228.1:p.Ala594Pro, XP_011513228.1:p.Ala594Thr, XP_047275339.1:p.Ala594Pro, XP_047275339.1:p.Ala594Thr, XP_011513229.1:p.Ala594Pro, XP_011513229.1:p.Ala594Thr

Select item 147755190016.

rs1477551900 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:56170980 (GRCh38)
6:56035778 (GRCh37)
Canonical SPDI:: NC_000006.12:56170979:A:T
Gene:: COL21A1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.56170980A>T, NC_000006.11:g.56035778A>T, XM_011514925.4:c.789T>A, XM_011514925.3:c.789T>A, XM_011514925.2:c.789T>A, XM_011514925.1:c.789T>A, NM_030820.4:c.789T>A, NM_030820.3:c.789T>A, XM_011514924.3:c.789T>A, XM_011514924.2:c.789T>A, XM_011514924.1:c.789T>A, NM_001318751.2:c.789T>A, NM_001318751.1:c.789T>A, NR_134850.2:n.1021T>A, NR_134850.1:n.1021T>A, NR_134849.2:n.1021T>A, NR_134849.1:n.1021T>A, NR_134851.2:n.1021T>A, NR_134851.1:n.1021T>A, XM_006715223.2:c.789T>A, XM_006715223.1:c.789T>A, NM_001318752.2:c.789T>A, NM_001318752.1:c.789T>A, XM_011514926.2:c.789T>A, XM_011514926.1:c.789T>A, XM_047419383.1:c.789T>A, XM_011514927.1:c.789T>A

Select item 147737458117.

rs1477374581 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:56060791 (GRCh38)
6:55925589 (GRCh37)
Canonical SPDI:: NC_000006.12:56060786:CTCTCT:CTCT
Gene:: COL21A1 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CTCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.56060787CT[2], NC_000006.11:g.55925585CT[2], XM_011514925.4:c.2360_2361del, XM_011514925.3:c.2360_2361del, XM_011514925.2:c.2360_2361del, XM_011514925.1:c.2360_2361del, NM_030820.4:c.2360_2361del, NM_030820.3:c.2360_2361del, XM_011514924.3:c.2360_2361del, XM_011514924.2:c.2360_2361del, XM_011514924.1:c.2360_2361del, NM_001318751.2:c.2360_2361del, NM_001318751.1:c.2360_2361del, NR_134850.2:n.2605AG[2], NR_134850.1:n.2605AG[2], NR_134849.2:n.2580AG[2], NR_134849.1:n.2580AG[2], NR_134851.2:n.2577AG[2], NR_134851.1:n.2577AG[2], XM_006715223.2:c.2324_2325del, XM_006715223.1:c.2324_2325del, NM_001318752.2:c.2351_2352del, NM_001318752.1:c.2351_2352del, XM_011514926.2:c.2360_2361del, XM_011514926.1:c.2360_2361del, NM_001318753.2:c.554_555del, NM_001318753.1:c.554_555del, NM_001318754.2:c.431_432del, NM_001318754.1:c.431_432del, XM_047419383.1:c.2360_2361del, XM_011514927.1:c.2360_2361del, XP_011513227.1:p.Glu787fs, NP_110447.2:p.Glu787fs, XP_011513226.1:p.Glu787fs, NP_001305680.1:p.Glu787fs, XP_006715286.1:p.Glu775fs, NP_001305681.1:p.Glu784fs, XP_011513228.1:p.Glu787fs, NP_001305682.1:p.Glu185fs, NP_001305683.1:p.Glu144fs, XP_047275339.1:p.Glu787fs, XP_011513229.1:p.Glu787fs

Select item 147656392018.

rs1476563920 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:56060209 (GRCh38)
6:55925007 (GRCh37)
Canonical SPDI:: NC_000006.12:56060208:G:A,NC_000006.12:56060208:G:T
Gene:: COL21A1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00003/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.56060209G>A, NC_000006.12:g.56060209G>T, NC_000006.11:g.55925007G>A, NC_000006.11:g.55925007G>T, XM_011514925.4:c.2417C>T, XM_011514925.4:c.2417C>A, XM_011514925.3:c.2417C>T, XM_011514925.3:c.2417C>A, XM_011514925.2:c.2417C>T, XM_011514925.2:c.2417C>A, XM_011514925.1:c.2417C>T, XM_011514925.1:c.2417C>A, NM_030820.4:c.2417C>T, NM_030820.4:c.2417C>A, NM_030820.3:c.2417C>T, NM_030820.3:c.2417C>A, XM_011514924.3:c.2417C>T, XM_011514924.3:c.2417C>A, XM_011514924.2:c.2417C>T, XM_011514924.2:c.2417C>A, XM_011514924.1:c.2417C>T, XM_011514924.1:c.2417C>A, NM_001318751.2:c.2417C>T, NM_001318751.2:c.2417C>A, NM_001318751.1:c.2417C>T, NM_001318751.1:c.2417C>A, NR_134850.2:n.2666C>T, NR_134850.2:n.2666C>A, NR_134850.1:n.2666C>T, NR_134850.1:n.2666C>A, NR_134849.2:n.2641C>T, NR_134849.2:n.2641C>A, NR_134849.1:n.2641C>T, NR_134849.1:n.2641C>A, NR_134851.2:n.2638C>T, NR_134851.2:n.2638C>A, NR_134851.1:n.2638C>T, NR_134851.1:n.2638C>A, XM_006715223.2:c.2381C>T, XM_006715223.2:c.2381C>A, XM_006715223.1:c.2381C>T, XM_006715223.1:c.2381C>A, NM_001318752.2:c.2408C>T, NM_001318752.2:c.2408C>A, NM_001318752.1:c.2408C>T, NM_001318752.1:c.2408C>A, XM_011514926.2:c.2417C>T, XM_011514926.2:c.2417C>A, XM_011514926.1:c.2417C>T, XM_011514926.1:c.2417C>A, NM_001318753.2:c.611C>T, NM_001318753.2:c.611C>A, NM_001318753.1:c.611C>T, NM_001318753.1:c.611C>A, NM_001318754.2:c.488C>T, NM_001318754.2:c.488C>A, NM_001318754.1:c.488C>T, NM_001318754.1:c.488C>A, XM_047419383.1:c.2417C>T, XM_047419383.1:c.2417C>A, XM_011514927.1:c.2417C>T, XM_011514927.1:c.2417C>A, XP_011513227.1:p.Pro806Leu, XP_011513227.1:p.Pro806Gln, NP_110447.2:p.Pro806Leu, NP_110447.2:p.Pro806Gln, XP_011513226.1:p.Pro806Leu, XP_011513226.1:p.Pro806Gln, NP_001305680.1:p.Pro806Leu, NP_001305680.1:p.Pro806Gln, XP_006715286.1:p.Pro794Leu, XP_006715286.1:p.Pro794Gln, NP_001305681.1:p.Pro803Leu, NP_001305681.1:p.Pro803Gln, XP_011513228.1:p.Pro806Leu, XP_011513228.1:p.Pro806Gln, NP_001305682.1:p.Pro204Leu, NP_001305682.1:p.Pro204Gln, NP_001305683.1:p.Pro163Leu, NP_001305683.1:p.Pro163Gln, XP_047275339.1:p.Pro806Leu, XP_047275339.1:p.Pro806Gln, XP_011513229.1:p.Pro806Leu, XP_011513229.1:p.Pro806Gln

Select item 147627220419.

rs1476272204 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:56124106 (GRCh38)
6:55988904 (GRCh37)
Canonical SPDI:: NC_000006.12:56124105:C:A
Gene:: COL21A1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.56124106C>A, NC_000006.11:g.55988904C>A, XM_011514925.4:c.1714G>T, XM_011514925.3:c.1714G>T, XM_011514925.2:c.1714G>T, XM_011514925.1:c.1714G>T, NM_030820.4:c.1714G>T, NM_030820.3:c.1714G>T, XM_011514924.3:c.1714G>T, XM_011514924.2:c.1714G>T, XM_011514924.1:c.1714G>T, NM_001318751.2:c.1714G>T, NM_001318751.1:c.1714G>T, NR_134850.2:n.1938G>T, NR_134850.1:n.1938G>T, NR_134849.2:n.1938G>T, NR_134849.1:n.1938G>T, NR_134851.2:n.1946G>T, NR_134851.1:n.1946G>T, XM_006715223.2:c.1714G>T, XM_006715223.1:c.1714G>T, NM_001318752.2:c.1705G>T, NM_001318752.1:c.1705G>T, XM_011514926.2:c.1714G>T, XM_011514926.1:c.1714G>T, XM_047419383.1:c.1714G>T, XM_011514927.1:c.1714G>T, XP_011513227.1:p.Gly572Ter, NP_110447.2:p.Gly572Ter, XP_011513226.1:p.Gly572Ter, NP_001305680.1:p.Gly572Ter, XP_006715286.1:p.Gly572Ter, NP_001305681.1:p.Gly569Ter, XP_011513228.1:p.Gly572Ter, XP_047275339.1:p.Gly572Ter, XP_011513229.1:p.Gly572Ter

Select item 147436896020.

rs1474368960 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:56168230 (GRCh38)
6:56033028 (GRCh37)
Canonical SPDI:: NC_000006.12:56168229:A:G
Gene:: COL21A1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.56168230A>G, NC_000006.11:g.56033028A>G, XM_011514925.4:c.1094T>C, XM_011514925.3:c.1094T>C, XM_011514925.2:c.1094T>C, XM_011514925.1:c.1094T>C, NM_030820.4:c.1094T>C, NM_030820.3:c.1094T>C, XM_011514924.3:c.1094T>C, XM_011514924.2:c.1094T>C, XM_011514924.1:c.1094T>C, NM_001318751.2:c.1094T>C, NM_001318751.1:c.1094T>C, NR_134850.2:n.1326T>C, NR_134850.1:n.1326T>C, NR_134849.2:n.1326T>C, NR_134849.1:n.1326T>C, NR_134851.2:n.1326T>C, NR_134851.1:n.1326T>C, XM_006715223.2:c.1094T>C, XM_006715223.1:c.1094T>C, NM_001318752.2:c.1094T>C, NM_001318752.1:c.1094T>C, XM_011514926.2:c.1094T>C, XM_011514926.1:c.1094T>C, XM_047419383.1:c.1094T>C, XM_011514927.1:c.1094T>C, XP_011513227.1:p.Ile365Thr, NP_110447.2:p.Ile365Thr, XP_011513226.1:p.Ile365Thr, NP_001305680.1:p.Ile365Thr, XP_006715286.1:p.Ile365Thr, NP_001305681.1:p.Ile365Thr, XP_011513228.1:p.Ile365Thr, XP_047275339.1:p.Ile365Thr, XP_011513229.1:p.Ile365Thr

<< First< Prev

Page of 50

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 994

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity