SNP Links for Protein (Select 1034632938) - SNP

Links from Protein

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Select item 14854139151.

rs1485413915 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:149003992 (GRCh38)
3:148721779 (GRCh37)
Canonical SPDI:: NC_000003.12:149003991:T:C
Gene:: GYG1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_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_000003.12:g.149003992T>C, NC_000003.11:g.148721779T>C, NG_027677.1:g.17585T>C, XM_017006276.2:c.13T>C, XM_017006276.1:c.13T>C

Select item 14827128212.

rs1482712821 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:149026780 (GRCh38)
3:148744567 (GRCh37)
Canonical SPDI:: NC_000003.12:149026779:A:G
Gene:: GYG1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.149026780A>G, NC_000003.11:g.148744567A>G, NG_027677.1:g.40373A>G, NM_004130.4:c.900A>G, NM_004130.3:c.900A>G, NM_001184720.2:c.849A>G, NM_001184720.1:c.849A>G, NM_001184721.2:c.629A>G, NM_001184721.1:c.629A>G, XM_017006276.2:c.387A>G, XM_017006276.1:c.387A>G, XM_017006275.2:c.672A>G, XM_017006275.1:c.672A>G, NP_004121.2:p.Ile300Met, NP_001171649.1:p.Ile283Met, NP_001171650.1:p.Tyr210Cys, XP_016861765.1:p.Ile129Met, XP_016861764.1:p.Ile224Met

Select item 14757631683.

rs1475763168 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 3:149024191 (GRCh38)
3:148741978 (GRCh37)
Canonical SPDI:: NC_000003.12:149024190:G:C,NC_000003.12:149024190:G:T
Gene:: GYG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.149024191G>C, NC_000003.12:g.149024191G>T, NC_000003.11:g.148741978G>C, NC_000003.11:g.148741978G>T, NG_027677.1:g.37784G>C, NG_027677.1:g.37784G>T, NM_004130.4:c.747G>C, NM_004130.4:c.747G>T, NM_004130.3:c.747G>C, NM_004130.3:c.747G>T, NM_001184720.2:c.747G>C, NM_001184720.2:c.747G>T, NM_001184720.1:c.747G>C, NM_001184720.1:c.747G>T, XM_017006276.2:c.285G>C, XM_017006276.2:c.285G>T, XM_017006276.1:c.285G>C, XM_017006276.1:c.285G>T, XM_017006275.2:c.570G>C, XM_017006275.2:c.570G>T, XM_017006275.1:c.570G>C, XM_017006275.1:c.570G>T, NP_004121.2:p.Trp249Cys, NP_004121.2:p.Trp249Cys, NP_001171649.1:p.Trp249Cys, NP_001171649.1:p.Trp249Cys, XP_016861765.1:p.Trp95Cys, XP_016861765.1:p.Trp95Cys, XP_016861764.1:p.Trp190Cys, XP_016861764.1:p.Trp190Cys

Select item 14656916024.

rs1465691602 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:149026792 (GRCh38)
3:148744579 (GRCh37)
Canonical SPDI:: NC_000003.12:149026791:C:G
Gene:: GYG1 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
G=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.149026792C>G, NC_000003.11:g.148744579C>G, NG_027677.1:g.40385C>G, NM_004130.4:c.912C>G, NM_004130.3:c.912C>G, NM_001184720.2:c.861C>G, NM_001184720.1:c.861C>G, NM_001184721.2:c.641C>G, NM_001184721.1:c.641C>G, XM_017006276.2:c.399C>G, XM_017006276.1:c.399C>G, XM_017006275.2:c.684C>G, XM_017006275.1:c.684C>G, NP_001171650.1:p.Pro214Arg

Select item 14611841105.

rs1461184110 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:149009349 (GRCh38)
3:148727136 (GRCh37)
Canonical SPDI:: NC_000003.12:149009348:T:C
Gene:: GYG1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.149009349T>C, NC_000003.11:g.148727136T>C, NG_027677.1:g.22942T>C, NM_004130.4:c.555T>C, NM_004130.3:c.555T>C, NM_001184720.2:c.555T>C, NM_001184720.1:c.555T>C, NM_001184721.2:c.555T>C, NM_001184721.1:c.555T>C, XM_017006276.2:c.93T>C, XM_017006276.1:c.93T>C, XM_017006275.2:c.378T>C, XM_017006275.1:c.378T>C

Select item 14607137266.

rs1460713726 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:149024169 (GRCh38)
3:148741956 (GRCh37)
Canonical SPDI:: NC_000003.12:149024168:A:T
Gene:: GYG1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.149024169A>T, NC_000003.11:g.148741956A>T, NG_027677.1:g.37762A>T, NM_004130.4:c.725A>T, NM_004130.3:c.725A>T, NM_001184720.2:c.725A>T, NM_001184720.1:c.725A>T, XM_017006276.2:c.263A>T, XM_017006276.1:c.263A>T, XM_017006275.2:c.548A>T, XM_017006275.1:c.548A>T, NP_004121.2:p.His242Leu, NP_001171649.1:p.His242Leu, XP_016861765.1:p.His88Leu, XP_016861764.1:p.His183Leu

Select item 14574954737.

rs1457495473 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 3:149024213 (GRCh38)
3:148742000 (GRCh37)
Canonical SPDI:: NC_000003.12:149024212:G:
Gene:: GYG1 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.149024213del, NC_000003.11:g.148742000del, NG_027677.1:g.37806del, NM_004130.4:c.769del, NM_004130.3:c.769del, NM_001184720.2:c.769del, NM_001184720.1:c.769del, XM_017006276.2:c.307del, XM_017006276.1:c.307del, XM_017006275.2:c.592del, XM_017006275.1:c.592del, NP_004121.2:p.Val257fs, NP_001171649.1:p.Val257fs, XP_016861765.1:p.Val103fs, XP_016861764.1:p.Val198fs

Select item 14518174538.

rs1451817453 has merged into rs727502871 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 3:149009278 (GRCh38)
3:148727065 (GRCh37)
Canonical SPDI:: NC_000003.12:149009277:GGGG:GGG
Gene:: GYG1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0.000291/8 (ALFA)
-=0.000051/4 (PAGE_STUDY)
-=0.000223/1 (Estonian)
-=0.000306/81 (TOPMED)
-=0.000398/100 (GnomAD_exomes)
-=0.000449/63 (GnomAD)
-=0.000473/57 (ExAC)
-=0.000778/3 (ALSPAC)
-=0.001348/5 (TWINSUK)
-=0.001757/22 (GoESP)
HGVS:: NC_000003.12:g.149009281del, NC_000003.11:g.148727068del, NG_027677.1:g.22874del, NM_004130.4:c.487del, NM_004130.3:c.487del, NM_001184720.2:c.487del, NM_001184720.1:c.487del, NM_001184721.2:c.487del, NM_001184721.1:c.487del, XM_017006276.2:c.25del, XM_017006276.1:c.25del, XM_017006275.2:c.310del, XM_017006275.1:c.310del, NP_004121.2:p.Asp163fs, NP_001171649.1:p.Asp163fs, NP_001171650.1:p.Asp163fs, XP_016861765.1:p.Asp9fs, XP_016861764.1:p.Asp104fs

Select item 14433423539.

rs1443342353 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 3:149024078 (GRCh38)
3:148741866 (GRCh37)
Canonical SPDI:: NC_000003.12:149024078:AT:ATAT
Gene:: GYG1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: ATAT=0./0 (ALFA)
HGVS:: NC_000003.12:g.149024079_149024080dup, NC_000003.11:g.148741866_148741867dup, NG_027677.1:g.37672_37673dup, NM_004130.4:c.635_636dup, NM_004130.3:c.635_636dup, NM_001184720.2:c.635_636dup, NM_001184720.1:c.635_636dup, XM_017006276.2:c.173_174dup, XM_017006276.1:c.173_174dup, XM_017006275.2:c.458_459dup, XM_017006275.1:c.458_459dup, NP_004121.2:p.Phe213fs, NP_001171649.1:p.Phe213fs, XP_016861765.1:p.Phe59fs, XP_016861764.1:p.Phe154fs

Select item 143986669510.

rs1439866695 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:149009289 (GRCh38)
3:148727076 (GRCh37)
Canonical SPDI:: NC_000003.12:149009288:C:T
Gene:: GYG1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.149009289C>T, NC_000003.11:g.148727076C>T, NG_027677.1:g.22882C>T, NM_004130.4:c.495C>T, NM_004130.3:c.495C>T, NM_001184720.2:c.495C>T, NM_001184720.1:c.495C>T, NM_001184721.2:c.495C>T, NM_001184721.1:c.495C>T, XM_017006276.2:c.33C>T, XM_017006276.1:c.33C>T, XM_017006275.2:c.318C>T, XM_017006275.1:c.318C>T

Select item 143122707111.

rs1431227071 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:149026800 (GRCh38)
3:148744587 (GRCh37)
Canonical SPDI:: NC_000003.12:149026799:A:G
Gene:: GYG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.149026800A>G, NC_000003.11:g.148744587A>G, NG_027677.1:g.40393A>G, NM_004130.4:c.920A>G, NM_004130.3:c.920A>G, NM_001184720.2:c.869A>G, NM_001184720.1:c.869A>G, NM_001184721.2:c.649A>G, NM_001184721.1:c.649A>G, XM_017006276.2:c.407A>G, XM_017006276.1:c.407A>G, XM_017006275.2:c.692A>G, XM_017006275.1:c.692A>G, NP_004121.2:p.Glu307Gly, NP_001171649.1:p.Glu290Gly, NP_001171650.1:p.Arg217Gly, XP_016861765.1:p.Glu136Gly, XP_016861764.1:p.Glu231Gly

Select item 142966347812.

rs1429663478 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 3:149024075 (GRCh38)
3:148741862 (GRCh37)
Canonical SPDI:: NC_000003.12:149024074:G:
Gene:: GYG1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/2 (GnomAD_exomes)
-=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.149024075del, NC_000003.11:g.148741862del, NG_027677.1:g.37668del, NM_004130.4:c.631del, NM_004130.3:c.631del, NM_001184720.2:c.631del, NM_001184720.1:c.631del, XM_017006276.2:c.169del, XM_017006276.1:c.169del, XM_017006275.2:c.454del, XM_017006275.1:c.454del, NP_004121.2:p.Val211fs, NP_001171649.1:p.Val211fs, XP_016861765.1:p.Val57fs, XP_016861764.1:p.Val152fs

Select item 142044489013.

rs1420444890 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:149024196 (GRCh38)
3:148741983 (GRCh37)
Canonical SPDI:: NC_000003.12:149024195:A:G
Gene:: GYG1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.149024196A>G, NC_000003.11:g.148741983A>G, NG_027677.1:g.37789A>G, NM_004130.4:c.752A>G, NM_004130.3:c.752A>G, NM_001184720.2:c.752A>G, NM_001184720.1:c.752A>G, XM_017006276.2:c.290A>G, XM_017006276.1:c.290A>G, XM_017006275.2:c.575A>G, XM_017006275.1:c.575A>G, NP_004121.2:p.Asn251Ser, NP_001171649.1:p.Asn251Ser, XP_016861765.1:p.Asn97Ser, XP_016861764.1:p.Asn192Ser

Select item 141600820714.

rs1416008207 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:149024117 (GRCh38)
3:148741904 (GRCh37)
Canonical SPDI:: NC_000003.12:149024116:G:A
Gene:: GYG1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_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_000003.12:g.149024117G>A, NC_000003.11:g.148741904G>A, NG_027677.1:g.37710G>A, NM_004130.4:c.673G>A, NM_004130.3:c.673G>A, NM_001184720.2:c.673G>A, NM_001184720.1:c.673G>A, XM_017006276.2:c.211G>A, XM_017006276.1:c.211G>A, XM_017006275.2:c.496G>A, XM_017006275.1:c.496G>A, NP_004121.2:p.Asp225Asn, NP_001171649.1:p.Asp225Asn, XP_016861765.1:p.Asp71Asn, XP_016861764.1:p.Asp166Asn

Select item 141237557415.

rs1412375574 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:149026862 (GRCh38)
3:148744649 (GRCh37)
Canonical SPDI:: NC_000003.12:149026861:G:A
Gene:: GYG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.149026862G>A, NC_000003.11:g.148744649G>A, NG_027677.1:g.40455G>A, NM_004130.4:c.982G>A, NM_004130.3:c.982G>A, NM_001184720.2:c.931G>A, NM_001184720.1:c.931G>A, NM_001184721.2:c.711G>A, NM_001184721.1:c.711G>A, XM_017006276.2:c.469G>A, XM_017006276.1:c.469G>A, XM_017006275.2:c.754G>A, XM_017006275.1:c.754G>A, NP_004121.2:p.Gly328Ser, NP_001171649.1:p.Gly311Ser, XP_016861765.1:p.Gly157Ser, XP_016861764.1:p.Gly252Ser

Select item 141234894916.

rs1412348949 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 3:149024106 (GRCh38)
3:148741893 (GRCh37)
Canonical SPDI:: NC_000003.12:149024105:A:C,NC_000003.12:149024105:A:G
Gene:: GYG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.149024106A>C, NC_000003.12:g.149024106A>G, NC_000003.11:g.148741893A>C, NC_000003.11:g.148741893A>G, NG_027677.1:g.37699A>C, NG_027677.1:g.37699A>G, NM_004130.4:c.662A>C, NM_004130.4:c.662A>G, NM_004130.3:c.662A>C, NM_004130.3:c.662A>G, NM_001184720.2:c.662A>C, NM_001184720.2:c.662A>G, NM_001184720.1:c.662A>C, NM_001184720.1:c.662A>G, XM_017006276.2:c.200A>C, XM_017006276.2:c.200A>G, XM_017006276.1:c.200A>C, XM_017006276.1:c.200A>G, XM_017006275.2:c.485A>C, XM_017006275.2:c.485A>G, XM_017006275.1:c.485A>C, XM_017006275.1:c.485A>G, NP_004121.2:p.Asn221Thr, NP_004121.2:p.Asn221Ser, NP_001171649.1:p.Asn221Thr, NP_001171649.1:p.Asn221Ser, XP_016861765.1:p.Asn67Thr, XP_016861765.1:p.Asn67Ser, XP_016861764.1:p.Asn162Thr, XP_016861764.1:p.Asn162Ser

Select item 140794792817.

rs1407947928 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:149024136 (GRCh38)
3:148741923 (GRCh37)
Canonical SPDI:: NC_000003.12:149024135:T:C
Gene:: GYG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.149024136T>C, NC_000003.11:g.148741923T>C, NG_027677.1:g.37729T>C, NM_004130.4:c.692T>C, NM_004130.3:c.692T>C, NM_001184720.2:c.692T>C, NM_001184720.1:c.692T>C, XM_017006276.2:c.230T>C, XM_017006276.1:c.230T>C, XM_017006275.2:c.515T>C, XM_017006275.1:c.515T>C, NP_004121.2:p.Val231Ala, NP_001171649.1:p.Val231Ala, XP_016861765.1:p.Val77Ala, XP_016861764.1:p.Val172Ala

Select item 138911402018.

rs1389114020 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:149026812 (GRCh38)
3:148744599 (GRCh37)
Canonical SPDI:: NC_000003.12:149026811:T:C
Gene:: GYG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.149026812T>C, NC_000003.11:g.148744599T>C, NG_027677.1:g.40405T>C, NM_004130.4:c.932T>C, NM_004130.3:c.932T>C, NM_001184720.2:c.881T>C, NM_001184720.1:c.881T>C, NM_001184721.2:c.661T>C, NM_001184721.1:c.661T>C, XM_017006276.2:c.419T>C, XM_017006276.1:c.419T>C, XM_017006275.2:c.704T>C, XM_017006275.1:c.704T>C, NP_004121.2:p.Met311Thr, NP_001171649.1:p.Met294Thr, NP_001171650.1:p.Trp221Arg, XP_016861765.1:p.Met140Thr, XP_016861764.1:p.Met235Thr

Select item 138904381219.

rs1389043812 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:149009285 (GRCh38)
3:148727072 (GRCh37)
Canonical SPDI:: NC_000003.12:149009284:A:G
Gene:: GYG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000102/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.149009285A>G, NC_000003.11:g.148727072A>G, NG_027677.1:g.22878A>G, NM_004130.4:c.491A>G, NM_004130.3:c.491A>G, NM_001184720.2:c.491A>G, NM_001184720.1:c.491A>G, NM_001184721.2:c.491A>G, NM_001184721.1:c.491A>G, XM_017006276.2:c.29A>G, XM_017006276.1:c.29A>G, XM_017006275.2:c.314A>G, XM_017006275.1:c.314A>G, NP_004121.2:p.Gln164Arg, NP_001171649.1:p.Gln164Arg, NP_001171650.1:p.Gln164Arg, XP_016861765.1:p.Gln10Arg, XP_016861764.1:p.Gln105Arg

Select item 138615969720.

rs1386159697 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:149009286 (GRCh38)
3:148727073 (GRCh37)
Canonical SPDI:: NC_000003.12:149009285:A:G
Gene:: GYG1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000003.12:g.149009286A>G, NC_000003.11:g.148727073A>G, NG_027677.1:g.22879A>G, NM_004130.4:c.492A>G, NM_004130.3:c.492A>G, NM_001184720.2:c.492A>G, NM_001184720.1:c.492A>G, NM_001184721.2:c.492A>G, NM_001184721.1:c.492A>G, XM_017006276.2:c.30A>G, XM_017006276.1:c.30A>G, XM_017006275.2:c.315A>G, XM_017006275.1:c.315A>G

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