SNP Links for Protein (Select 21314714) - SNP

Links from Protein

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Select item 14891400531.

rs1489140053 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:122768846 (GRCh38)
3:122487693 (GRCh37)
Canonical SPDI:: NC_000003.12:122768845:G:C
Gene:: HSPBAP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000003.12:g.122768846G>C, NC_000003.11:g.122487693G>C, NG_030032.1:g.29974C>G, NM_024610.6:c.287C>G, NM_024610.5:c.287C>G, NM_001320728.2:c.287C>G, NM_001320728.1:c.287C>G, XM_005247762.3:c.287C>G, XM_005247762.2:c.287C>G, XM_005247762.1:c.287C>G, XM_017007179.2:c.101C>G, XM_017007179.1:c.101C>G, XM_047448918.1:c.176C>G, XM_047448919.1:c.101C>G, XM_047448920.1:c.287C>G, NP_078886.2:p.Ala96Gly, NP_001307657.1:p.Ala96Gly, XP_005247819.1:p.Ala96Gly, XP_016862668.1:p.Ala34Gly, XP_047304874.1:p.Ala59Gly, XP_047304875.1:p.Ala34Gly, XP_047304876.1:p.Ala96Gly

Select item 14874825692.

rs1487482569 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:122740752 (GRCh38)
3:122459599 (GRCh37)
Canonical SPDI:: NC_000003.12:122740751:T:C
Gene:: HSPBAP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.122740752T>C, NC_000003.11:g.122459599T>C, NG_030032.1:g.58068A>G, NM_024610.6:c.1060A>G, NM_024610.5:c.1060A>G, NM_001320728.2:c.976A>G, NM_001320728.1:c.976A>G, XM_017007179.2:c.874A>G, XM_017007179.1:c.874A>G, XM_047448918.1:c.949A>G, XM_047448919.1:c.790A>G, NP_078886.2:p.Met354Val, NP_001307657.1:p.Met326Val, XP_016862668.1:p.Met292Val, XP_047304874.1:p.Met317Val, XP_047304875.1:p.Met264Val

Select item 14869745393.

rs1486974539 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:122793625 (GRCh38)
3:122512472 (GRCh37)
Canonical SPDI:: NC_000003.12:122793624:C:T
Gene:: HSPBAP1 (Varview), SLC49A4 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.00007/1 (ALFA)
HGVS:: NC_000003.12:g.122793625C>T, NC_000003.11:g.122512472C>T, NG_023324.1:g.3572C>T, NG_030032.1:g.5195G>A, NM_024610.6:c.56G>A, NM_024610.5:c.56G>A, NM_001320728.2:c.56G>A, NM_001320728.1:c.56G>A, XM_005247762.3:c.56G>A, XM_005247762.2:c.56G>A, XM_005247762.1:c.56G>A, XM_017007179.2:c.56G>A, XM_017007179.1:c.56G>A, XM_047448918.1:c.-7264G>A, XM_047448919.1:c.56G>A, XM_047448920.1:c.56G>A, NP_078886.2:p.Gly19Glu, NP_001307657.1:p.Gly19Glu, XP_005247819.1:p.Gly19Glu, XP_016862668.1:p.Gly19Glu, XP_047304875.1:p.Gly19Glu, XP_047304876.1:p.Gly19Glu

Select item 14834856374.

rs1483485637 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:122768746 (GRCh38)
3:122487593 (GRCh37)
Canonical SPDI:: NC_000003.12:122768745:A:G
Gene:: HSPBAP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.122768746A>G, NC_000003.11:g.122487593A>G, NG_030032.1:g.30074T>C, NM_024610.6:c.387T>C, NM_024610.5:c.387T>C, NM_001320728.2:c.387T>C, NM_001320728.1:c.387T>C, XM_005247762.3:c.387T>C, XM_005247762.2:c.387T>C, XM_005247762.1:c.387T>C, XM_017007179.2:c.201T>C, XM_017007179.1:c.201T>C, XM_047448918.1:c.276T>C, XM_047448919.1:c.201T>C, XM_047448920.1:c.387T>C

Select item 14816213415.

rs1481621341 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:122740422 (GRCh38)
3:122459269 (GRCh37)
Canonical SPDI:: NC_000003.12:122740421:C:T
Gene:: HSPBAP1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.122740422C>T, NC_000003.11:g.122459269C>T, NG_030032.1:g.58398G>A, NM_024610.6:c.1390G>A, NM_024610.5:c.1390G>A, NM_001320728.2:c.1306G>A, NM_001320728.1:c.1306G>A, XM_017007179.2:c.1204G>A, XM_017007179.1:c.1204G>A, XM_047448918.1:c.1279G>A, XM_047448919.1:c.1120G>A, NP_078886.2:p.Asp464Asn, NP_001307657.1:p.Asp436Asn, XP_016862668.1:p.Asp402Asn, XP_047304874.1:p.Asp427Asn, XP_047304875.1:p.Asp374Asn

Select item 14798297016.

rs1479829701 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:122777757 (GRCh38)
3:122496604 (GRCh37)
Canonical SPDI:: NC_000003.12:122777756:T:C
Gene:: HSPBAP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.122777757T>C, NC_000003.11:g.122496604T>C, NG_030032.1:g.21063A>G, NM_024610.6:c.214A>G, NM_024610.5:c.214A>G, NM_001320728.2:c.214A>G, NM_001320728.1:c.214A>G, XM_005247762.3:c.214A>G, XM_005247762.2:c.214A>G, XM_005247762.1:c.214A>G, XM_047448918.1:c.103A>G, XM_047448920.1:c.214A>G, NP_078886.2:p.Ile72Val, NP_001307657.1:p.Ile72Val, XP_005247819.1:p.Ile72Val, XP_047304874.1:p.Ile35Val, XP_047304876.1:p.Ile72Val

Select item 14787660027.

rs1478766002 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:122768758 (GRCh38)
3:122487605 (GRCh37)
Canonical SPDI:: NC_000003.12:122768757:A:T
Gene:: HSPBAP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.122768758A>T, NC_000003.11:g.122487605A>T, NG_030032.1:g.30062T>A, NM_024610.6:c.375T>A, NM_024610.5:c.375T>A, NM_001320728.2:c.375T>A, NM_001320728.1:c.375T>A, XM_005247762.3:c.375T>A, XM_005247762.2:c.375T>A, XM_005247762.1:c.375T>A, XM_017007179.2:c.189T>A, XM_017007179.1:c.189T>A, XM_047448918.1:c.264T>A, XM_047448919.1:c.189T>A, XM_047448920.1:c.375T>A

Select item 14771309338.

rs1477130933 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:122777833 (GRCh38)
3:122496680 (GRCh37)
Canonical SPDI:: NC_000003.12:122777832:G:A
Gene:: HSPBAP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.122777833G>A, NC_000003.11:g.122496680G>A, NG_030032.1:g.20987C>T, NM_024610.6:c.138C>T, NM_024610.5:c.138C>T, NM_001320728.2:c.138C>T, NM_001320728.1:c.138C>T, XM_005247762.3:c.138C>T, XM_005247762.2:c.138C>T, XM_005247762.1:c.138C>T, XM_047448918.1:c.27C>T, XM_047448920.1:c.138C>T

Select item 14762078739.

rs1476207873 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:122740473 (GRCh38)
3:122459320 (GRCh37)
Canonical SPDI:: NC_000003.12:122740472:G:A
Gene:: HSPBAP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.122740473G>A, NC_000003.11:g.122459320G>A, NG_030032.1:g.58347C>T, NM_024610.6:c.1339C>T, NM_024610.5:c.1339C>T, NM_001320728.2:c.1255C>T, NM_001320728.1:c.1255C>T, XM_017007179.2:c.1153C>T, XM_017007179.1:c.1153C>T, XM_047448918.1:c.1228C>T, XM_047448919.1:c.1069C>T, NP_078886.2:p.Gln447Ter, NP_001307657.1:p.Gln419Ter, XP_016862668.1:p.Gln385Ter, XP_047304874.1:p.Gln410Ter, XP_047304875.1:p.Gln357Ter

Select item 147550048210.

rs1475500482 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:122777860 (GRCh38)
3:122496707 (GRCh37)
Canonical SPDI:: NC_000003.12:122777859:G:C
Gene:: HSPBAP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.122777860G>C, NC_000003.11:g.122496707G>C, NG_030032.1:g.20960C>G, NM_024610.6:c.111C>G, NM_024610.5:c.111C>G, NM_001320728.2:c.111C>G, NM_001320728.1:c.111C>G, XM_005247762.3:c.111C>G, XM_005247762.2:c.111C>G, XM_005247762.1:c.111C>G, XM_047448918.1:c.-1C>G, XM_047448920.1:c.111C>G, NP_078886.2:p.Ile37Met, NP_001307657.1:p.Ile37Met, XP_005247819.1:p.Ile37Met, XP_047304876.1:p.Ile37Met

Select item 147482726511.

rs1474827265 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:122740409 (GRCh38)
3:122459256 (GRCh37)
Canonical SPDI:: NC_000003.12:122740408:C:A
Gene:: HSPBAP1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_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_000003.12:g.122740409C>A, NC_000003.11:g.122459256C>A, NG_030032.1:g.58411G>T, NM_024610.6:c.1403G>T, NM_024610.5:c.1403G>T, NM_001320728.2:c.1319G>T, NM_001320728.1:c.1319G>T, XM_017007179.2:c.1217G>T, XM_017007179.1:c.1217G>T, XM_047448918.1:c.1292G>T, XM_047448919.1:c.1133G>T, NP_078886.2:p.Cys468Phe, NP_001307657.1:p.Cys440Phe, XP_016862668.1:p.Cys406Phe, XP_047304874.1:p.Cys431Phe, XP_047304875.1:p.Cys378Phe

Select item 147081039512.

rs1470810395 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:122741068 (GRCh38)
3:122459915 (GRCh37)
Canonical SPDI:: NC_000003.12:122741067:G:A
Gene:: HSPBAP1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.122741068G>A, NC_000003.11:g.122459915G>A, NG_030032.1:g.57752C>T, NM_024610.6:c.871C>T, NM_024610.5:c.871C>T, NM_001320728.2:c.787C>T, NM_001320728.1:c.787C>T, XM_017007179.2:c.685C>T, XM_017007179.1:c.685C>T, XM_047448918.1:c.760C>T, XM_047448919.1:c.601C>T, NP_078886.2:p.Leu291Phe, NP_001307657.1:p.Leu263Phe, XP_016862668.1:p.Leu229Phe, XP_047304874.1:p.Leu254Phe, XP_047304875.1:p.Leu201Phe

Select item 146976337013.

rs1469763370 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:122740791 (GRCh38)
3:122459638 (GRCh37)
Canonical SPDI:: NC_000003.12:122740790:C:T
Gene:: HSPBAP1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.122740791C>T, NC_000003.11:g.122459638C>T, NG_030032.1:g.58029G>A, NM_024610.6:c.1021G>A, NM_024610.5:c.1021G>A, NM_001320728.2:c.937G>A, NM_001320728.1:c.937G>A, XM_017007179.2:c.835G>A, XM_017007179.1:c.835G>A, XM_047448918.1:c.910G>A, XM_047448919.1:c.751G>A, NP_078886.2:p.Val341Ile, NP_001307657.1:p.Val313Ile, XP_016862668.1:p.Val279Ile, XP_047304874.1:p.Val304Ile, XP_047304875.1:p.Val251Ile

Select item 146941855314.

rs1469418553 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:122793628 (GRCh38)
3:122512475 (GRCh37)
Canonical SPDI:: NC_000003.12:122793627:C:G
Gene:: HSPBAP1 (Varview), SLC49A4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.122793628C>G, NC_000003.11:g.122512475C>G, NG_023324.1:g.3575C>G, NG_030032.1:g.5192G>C, NM_024610.6:c.53G>C, NM_024610.5:c.53G>C, NM_001320728.2:c.53G>C, NM_001320728.1:c.53G>C, XM_005247762.3:c.53G>C, XM_005247762.2:c.53G>C, XM_005247762.1:c.53G>C, XM_017007179.2:c.53G>C, XM_017007179.1:c.53G>C, XM_047448918.1:c.-7267G>C, XM_047448919.1:c.53G>C, XM_047448920.1:c.53G>C, NP_078886.2:p.Gly18Ala, NP_001307657.1:p.Gly18Ala, XP_005247819.1:p.Gly18Ala, XP_016862668.1:p.Gly18Ala, XP_047304875.1:p.Gly18Ala, XP_047304876.1:p.Gly18Ala

Select item 146905598815.

rs1469055988 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:122740540 (GRCh38)
3:122459387 (GRCh37)
Canonical SPDI:: NC_000003.12:122740539:G:A
Gene:: HSPBAP1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.122740540G>A, NC_000003.11:g.122459387G>A, NG_030032.1:g.58280C>T, NM_024610.6:c.1272C>T, NM_024610.5:c.1272C>T, NM_001320728.2:c.1188C>T, NM_001320728.1:c.1188C>T, XM_017007179.2:c.1086C>T, XM_017007179.1:c.1086C>T, XM_047448918.1:c.1161C>T, XM_047448919.1:c.1002C>T

Select item 146571483716.

rs1465714837 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:122740771 (GRCh38)
3:122459618 (GRCh37)
Canonical SPDI:: NC_000003.12:122740770:C:T
Gene:: HSPBAP1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_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_000003.12:g.122740771C>T, NC_000003.11:g.122459618C>T, NG_030032.1:g.58049G>A, NM_024610.6:c.1041G>A, NM_024610.5:c.1041G>A, NM_001320728.2:c.957G>A, NM_001320728.1:c.957G>A, XM_017007179.2:c.855G>A, XM_017007179.1:c.855G>A, XM_047448918.1:c.930G>A, XM_047448919.1:c.771G>A

Select item 146204437317.

rs1462044373 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:122777841 (GRCh38)
3:122496688 (GRCh37)
Canonical SPDI:: NC_000003.12:122777840:C:A
Gene:: HSPBAP1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.122777841C>A, NC_000003.11:g.122496688C>A, NG_030032.1:g.20979G>T, NM_024610.6:c.130G>T, NM_024610.5:c.130G>T, NM_001320728.2:c.130G>T, NM_001320728.1:c.130G>T, XM_005247762.3:c.130G>T, XM_005247762.2:c.130G>T, XM_005247762.1:c.130G>T, XM_047448918.1:c.19G>T, XM_047448920.1:c.130G>T, NP_078886.2:p.Ala44Ser, NP_001307657.1:p.Ala44Ser, XP_005247819.1:p.Ala44Ser, XP_047304874.1:p.Ala7Ser, XP_047304876.1:p.Ala44Ser

Select item 146166302318.

rs1461663023 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:122740388 (GRCh38)
3:122459235 (GRCh37)
Canonical SPDI:: NC_000003.12:122740387:G:T
Gene:: HSPBAP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.122740388G>T, NC_000003.11:g.122459235G>T, NG_030032.1:g.58432C>A, NM_024610.6:c.1424C>A, NM_024610.5:c.1424C>A, NM_001320728.2:c.1340C>A, NM_001320728.1:c.1340C>A, XM_017007179.2:c.1238C>A, XM_017007179.1:c.1238C>A, XM_047448918.1:c.1313C>A, XM_047448919.1:c.1154C>A, NP_078886.2:p.Thr475Asn, NP_001307657.1:p.Thr447Asn, XP_016862668.1:p.Thr413Asn, XP_047304874.1:p.Thr438Asn, XP_047304875.1:p.Thr385Asn

Select item 146023652319.

rs1460236523 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:122759231 (GRCh38)
3:122478078 (GRCh37)
Canonical SPDI:: NC_000003.12:122759230:G:A
Gene:: HSPBAP1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.122759231G>A, NC_000003.11:g.122478078G>A, NG_030032.1:g.39589C>T, NM_024610.6:c.562C>T, NM_024610.5:c.562C>T, NM_001320728.2:c.562C>T, NM_001320728.1:c.562C>T, XM_005247762.3:c.562C>T, XM_005247762.2:c.562C>T, XM_005247762.1:c.562C>T, XM_017007179.2:c.376C>T, XM_017007179.1:c.376C>T, XM_047448918.1:c.451C>T, XM_047448919.1:c.376C>T, XM_047448920.1:c.562C>T, NP_078886.2:p.Gln188Ter, NP_001307657.1:p.Gln188Ter, XP_005247819.1:p.Gln188Ter, XP_016862668.1:p.Gln126Ter, XP_047304874.1:p.Gln151Ter, XP_047304875.1:p.Gln126Ter, XP_047304876.1:p.Gln188Ter

Select item 145822099420.

rs1458220994 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:122741110 (GRCh38)
3:122459957 (GRCh37)
Canonical SPDI:: NC_000003.12:122741107:CTCT:CT
Gene:: HSPBAP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.122741108CT[1], NC_000003.11:g.122459955CT[1], NG_030032.1:g.57709AG[1], NM_024610.6:c.830_831del, NM_024610.5:c.830_831del, NM_001320728.2:c.746_747del, NM_001320728.1:c.746_747del, XM_017007179.2:c.644_645del, XM_017007179.1:c.644_645del, XM_047448918.1:c.719_720del, XM_047448919.1:c.560_561del, NP_078886.2:p.Glu277fs, NP_001307657.1:p.Glu249fs, XP_016862668.1:p.Glu215fs, XP_047304874.1:p.Glu240fs, XP_047304875.1:p.Glu187fs

dbSNP

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