SNP Links for Protein (Select 18252047) - SNP

Links from Protein

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Select item 14907939191.

rs1490793919 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:57414662 (GRCh38)
11:57182135 (GRCh37)
Canonical SPDI:: NC_000011.10:57414661:A:T
Gene:: SLC43A3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.57414662A>T, NC_000011.9:g.57182135A>T, NM_014096.4:c.1013T>A, NM_014096.3:c.1013T>A, NM_199329.3:c.1013T>A, NM_199329.2:c.1013T>A, NM_017611.3:c.1013T>A, NM_017611.2:c.1013T>A, NM_001278206.2:c.1052T>A, NM_001278206.1:c.1052T>A, NM_001278201.2:c.1013T>A, NM_001278201.1:c.1013T>A, NP_054815.2:p.Leu338His, NP_955361.1:p.Leu338His, NP_060081.1:p.Leu338His, NP_001265135.1:p.Leu351His, NP_001265130.1:p.Leu338His

Select item 14900656072.

rs1490065607 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:57423995 (GRCh38)
11:57191468 (GRCh37)
Canonical SPDI:: NC_000011.10:57423994:G:A
Gene:: SLC43A3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000354/6 (TOMMO)
HGVS:: NC_000011.10:g.57423995G>A, NC_000011.9:g.57191468G>A, NM_014096.4:c.348C>T, NM_014096.3:c.348C>T, NM_199329.3:c.348C>T, NM_199329.2:c.348C>T, NM_017611.3:c.348C>T, NM_017611.2:c.348C>T, NM_001278206.2:c.387C>T, NM_001278206.1:c.387C>T, NM_001278201.2:c.348C>T, NM_001278201.1:c.348C>T

Select item 14897569223.

rs1489756922 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:57415070 (GRCh38)
11:57182543 (GRCh37)
Canonical SPDI:: NC_000011.10:57415069:G:A
Gene:: SLC43A3 (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=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.57415070G>A, NC_000011.9:g.57182543G>A, NM_014096.4:c.806C>T, NM_014096.3:c.806C>T, NM_199329.3:c.806C>T, NM_199329.2:c.806C>T, NM_017611.3:c.806C>T, NM_017611.2:c.806C>T, NM_001278206.2:c.845C>T, NM_001278206.1:c.845C>T, NM_001278201.2:c.806C>T, NM_001278201.1:c.806C>T, NP_054815.2:p.Ser269Phe, NP_955361.1:p.Ser269Phe, NP_060081.1:p.Ser269Phe, NP_001265135.1:p.Ser282Phe, NP_001265130.1:p.Ser269Phe

Select item 14880905654.

rs1488090565 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:57407835 (GRCh38)
11:57175308 (GRCh37)
Canonical SPDI:: NC_000011.10:57407834:C:T
Gene:: SLC43A3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
T=0.000024/6 (GnomAD_exomes)
HGVS:: NC_000011.10:g.57407835C>T, NC_000011.9:g.57175308C>T, NM_014096.4:c.1433G>A, NM_014096.3:c.1433G>A, NM_199329.3:c.1433G>A, NM_199329.2:c.1433G>A, NM_017611.3:c.1433G>A, NM_017611.2:c.1433G>A, NM_001278206.2:c.1472G>A, NM_001278206.1:c.1472G>A, NM_001278201.2:c.1433G>A, NM_001278201.1:c.1433G>A, NP_054815.2:p.Arg478Gln, NP_955361.1:p.Arg478Gln, NP_060081.1:p.Arg478Gln, NP_001265135.1:p.Arg491Gln, NP_001265130.1:p.Arg478Gln

Select item 14827200265.

rs1482720026 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:57417803 (GRCh38)
11:57185276 (GRCh37)
Canonical SPDI:: NC_000011.10:57417802:G:A
Gene:: SLC43A3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.57417803G>A, NC_000011.9:g.57185276G>A, NM_014096.4:c.616C>T, NM_014096.3:c.616C>T, NM_199329.3:c.616C>T, NM_199329.2:c.616C>T, NM_017611.3:c.616C>T, NM_017611.2:c.616C>T, NM_001278206.2:c.655C>T, NM_001278206.1:c.655C>T, NM_001278201.2:c.616C>T, NM_001278201.1:c.616C>T, NP_054815.2:p.Leu206Phe, NP_955361.1:p.Leu206Phe, NP_060081.1:p.Leu206Phe, NP_001265135.1:p.Leu219Phe, NP_001265130.1:p.Leu206Phe

Select item 14814210126.

rs1481421012 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:57407872 (GRCh38)
11:57175345 (GRCh37)
Canonical SPDI:: NC_000011.10:57407871:T:C
Gene:: SLC43A3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.57407872T>C, NC_000011.9:g.57175345T>C, NM_014096.4:c.1396A>G, NM_014096.3:c.1396A>G, NM_199329.3:c.1396A>G, NM_199329.2:c.1396A>G, NM_017611.3:c.1396A>G, NM_017611.2:c.1396A>G, NM_001278206.2:c.1435A>G, NM_001278206.1:c.1435A>G, NM_001278201.2:c.1396A>G, NM_001278201.1:c.1396A>G, NP_054815.2:p.Ile466Val, NP_955361.1:p.Ile466Val, NP_060081.1:p.Ile466Val, NP_001265135.1:p.Ile479Val, NP_001265130.1:p.Ile466Val

Select item 14792986817.

rs1479298681 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:57417866 (GRCh38)
11:57185339 (GRCh37)
Canonical SPDI:: NC_000011.10:57417865:T:C
Gene:: SLC43A3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.57417866T>C, NC_000011.9:g.57185339T>C, NM_014096.4:c.553A>G, NM_014096.3:c.553A>G, NM_199329.3:c.553A>G, NM_199329.2:c.553A>G, NM_017611.3:c.553A>G, NM_017611.2:c.553A>G, NM_001278206.2:c.592A>G, NM_001278206.1:c.592A>G, NM_001278201.2:c.553A>G, NM_001278201.1:c.553A>G, NP_054815.2:p.Ser185Gly, NP_955361.1:p.Ser185Gly, NP_060081.1:p.Ser185Gly, NP_001265135.1:p.Ser198Gly, NP_001265130.1:p.Ser185Gly

Select item 14792374078.

rs1479237407 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAG>- [Show Flanks]
Chromosome:: 11:57415017 (GRCh38)
11:57182490 (GRCh37)
Canonical SPDI:: NC_000011.10:57415012:ACAGACAG:ACAG
Gene:: SLC43A3 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.57415013ACAG[1], NC_000011.9:g.57182486ACAG[1], NM_014096.4:c.860_863del, NM_014096.3:c.860_863del, NM_199329.3:c.860_863del, NM_199329.2:c.860_863del, NM_017611.3:c.860_863del, NM_017611.2:c.860_863del, NM_001278206.2:c.899_902del, NM_001278206.1:c.899_902del, NM_001278201.2:c.860_863del, NM_001278201.1:c.860_863del, NP_054815.2:p.Leu286_Ser287insTer, NP_955361.1:p.Leu286_Ser287insTer, NP_060081.1:p.Leu286_Ser287insTer, NP_001265135.1:p.Leu299_Ser300insTer, NP_001265130.1:p.Leu286_Ser287insTer

Select item 14752943519.

rs1475294351 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:57409227 (GRCh38)
11:57176700 (GRCh37)
Canonical SPDI:: NC_000011.10:57409226:T:C
Gene:: SLC43A3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.57409227T>C, NC_000011.9:g.57176700T>C, NM_014096.4:c.1319A>G, NM_014096.3:c.1319A>G, NM_199329.3:c.1319A>G, NM_199329.2:c.1319A>G, NM_017611.3:c.1319A>G, NM_017611.2:c.1319A>G, NM_001278206.2:c.1358A>G, NM_001278206.1:c.1358A>G, NM_001278201.2:c.1319A>G, NM_001278201.1:c.1319A>G, NP_054815.2:p.Gln440Arg, NP_955361.1:p.Gln440Arg, NP_060081.1:p.Gln440Arg, NP_001265135.1:p.Gln453Arg, NP_001265130.1:p.Gln440Arg

Select item 147204091410.

rs1472040914 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:57410090 (GRCh38)
11:57177563 (GRCh37)
Canonical SPDI:: NC_000011.10:57410089:C:G,NC_000011.10:57410089:C:T
Gene:: SLC43A3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.57410090C>G, NC_000011.10:g.57410090C>T, NC_000011.9:g.57177563C>G, NC_000011.9:g.57177563C>T, NM_014096.4:c.1092G>C, NM_014096.4:c.1092G>A, NM_014096.3:c.1092G>C, NM_014096.3:c.1092G>A, NM_199329.3:c.1092G>C, NM_199329.3:c.1092G>A, NM_199329.2:c.1092G>C, NM_199329.2:c.1092G>A, NM_017611.3:c.1092G>C, NM_017611.3:c.1092G>A, NM_017611.2:c.1092G>C, NM_017611.2:c.1092G>A, NM_001278206.2:c.1131G>C, NM_001278206.2:c.1131G>A, NM_001278206.1:c.1131G>C, NM_001278206.1:c.1131G>A, NM_001278201.2:c.1092G>C, NM_001278201.2:c.1092G>A, NM_001278201.1:c.1092G>C, NM_001278201.1:c.1092G>A

Select item 147095309611.

rs1470953096 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:57415076 (GRCh38)
11:57182549 (GRCh37)
Canonical SPDI:: NC_000011.10:57415075:A:G
Gene:: SLC43A3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.57415076A>G, NC_000011.9:g.57182549A>G, NM_014096.4:c.800T>C, NM_014096.3:c.800T>C, NM_199329.3:c.800T>C, NM_199329.2:c.800T>C, NM_017611.3:c.800T>C, NM_017611.2:c.800T>C, NM_001278206.2:c.839T>C, NM_001278206.1:c.839T>C, NM_001278201.2:c.800T>C, NM_001278201.1:c.800T>C, NP_054815.2:p.Leu267Pro, NP_955361.1:p.Leu267Pro, NP_060081.1:p.Leu267Pro, NP_001265135.1:p.Leu280Pro, NP_001265130.1:p.Leu267Pro

Select item 146996437512.

rs1469964375 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:57421061 (GRCh38)
11:57188534 (GRCh37)
Canonical SPDI:: NC_000011.10:57421060:C:T
Gene:: SLC43A3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.57421061C>T, NC_000011.9:g.57188534C>T, NM_014096.4:c.442G>A, NM_014096.3:c.442G>A, NM_199329.3:c.442G>A, NM_199329.2:c.442G>A, NM_017611.3:c.442G>A, NM_017611.2:c.442G>A, NM_001278206.2:c.481G>A, NM_001278206.1:c.481G>A, NM_001278201.2:c.442G>A, NM_001278201.1:c.442G>A, NP_054815.2:p.Gly148Arg, NP_955361.1:p.Gly148Arg, NP_060081.1:p.Gly148Arg, NP_001265135.1:p.Gly161Arg, NP_001265130.1:p.Gly148Arg

Select item 146615114113.

rs1466151141 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:57426060 (GRCh38)
11:57193533 (GRCh37)
Canonical SPDI:: NC_000011.10:57426059:T:C
Gene:: SLC43A3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.57426060T>C, NC_000011.9:g.57193533T>C, NM_014096.4:c.113A>G, NM_014096.3:c.113A>G, NM_199329.3:c.113A>G, NM_199329.2:c.113A>G, NM_017611.3:c.113A>G, NM_017611.2:c.113A>G, NM_001278206.2:c.113A>G, NM_001278206.1:c.113A>G, NM_001278201.2:c.113A>G, NM_001278201.1:c.113A>G, NP_054815.2:p.Lys38Arg, NP_955361.1:p.Lys38Arg, NP_060081.1:p.Lys38Arg, NP_001265135.1:p.Lys38Arg, NP_001265130.1:p.Lys38Arg

Select item 145782314314.

rs1457823143 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:57407862 (GRCh38)
11:57175335 (GRCh37)
Canonical SPDI:: NC_000011.10:57407861:G:A
Gene:: SLC43A3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.57407862G>A, NC_000011.9:g.57175335G>A, NM_014096.4:c.1406C>T, NM_014096.3:c.1406C>T, NM_199329.3:c.1406C>T, NM_199329.2:c.1406C>T, NM_017611.3:c.1406C>T, NM_017611.2:c.1406C>T, NM_001278206.2:c.1445C>T, NM_001278206.1:c.1445C>T, NM_001278201.2:c.1406C>T, NM_001278201.1:c.1406C>T, NP_054815.2:p.Thr469Ile, NP_955361.1:p.Thr469Ile, NP_060081.1:p.Thr469Ile, NP_001265135.1:p.Thr482Ile, NP_001265130.1:p.Thr469Ile

Select item 145634563715.

rs1456345637 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:57410115 (GRCh38)
11:57177588 (GRCh37)
Canonical SPDI:: NC_000011.10:57410114:G:A
Gene:: SLC43A3 (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)
HGVS:: NC_000011.10:g.57410115G>A, NC_000011.9:g.57177588G>A, NM_014096.4:c.1067C>T, NM_014096.3:c.1067C>T, NM_199329.3:c.1067C>T, NM_199329.2:c.1067C>T, NM_017611.3:c.1067C>T, NM_017611.2:c.1067C>T, NM_001278206.2:c.1106C>T, NM_001278206.1:c.1106C>T, NM_001278201.2:c.1067C>T, NM_001278201.1:c.1067C>T, NP_054815.2:p.Ser356Phe, NP_955361.1:p.Ser356Phe, NP_060081.1:p.Ser356Phe, NP_001265135.1:p.Ser369Phe, NP_001265130.1:p.Ser356Phe

Select item 145035487816.

rs1450354878 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:57414714 (GRCh38)
11:57182187 (GRCh37)
Canonical SPDI:: NC_000011.10:57414713:C:T
Gene:: SLC43A3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.57414714C>T, NC_000011.9:g.57182187C>T, NM_014096.4:c.961G>A, NM_014096.3:c.961G>A, NM_199329.3:c.961G>A, NM_199329.2:c.961G>A, NM_017611.3:c.961G>A, NM_017611.2:c.961G>A, NM_001278206.2:c.1000G>A, NM_001278206.1:c.1000G>A, NM_001278201.2:c.961G>A, NM_001278201.1:c.961G>A, NP_054815.2:p.Ala321Thr, NP_955361.1:p.Ala321Thr, NP_060081.1:p.Ala321Thr, NP_001265135.1:p.Ala334Thr, NP_001265130.1:p.Ala321Thr

Select item 145019575817.

rs1450195758 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:57425658 (GRCh38)
11:57193131 (GRCh37)
Canonical SPDI:: NC_000011.10:57425657:T:C
Gene:: SLC43A3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.57425658T>C, NC_000011.9:g.57193131T>C, NM_014096.4:c.197A>G, NM_014096.3:c.197A>G, NM_199329.3:c.197A>G, NM_199329.2:c.197A>G, NM_017611.3:c.197A>G, NM_017611.2:c.197A>G, NM_001278206.2:c.236A>G, NM_001278206.1:c.236A>G, NM_001278201.2:c.197A>G, NM_001278201.1:c.197A>G, NP_054815.2:p.Gln66Arg, NP_955361.1:p.Gln66Arg, NP_060081.1:p.Gln66Arg, NP_001265135.1:p.Gln79Arg, NP_001265130.1:p.Gln66Arg

Select item 144998155618.

rs1449981556 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:57414697 (GRCh38)
11:57182170 (GRCh37)
Canonical SPDI:: NC_000011.10:57414696:C:A
Gene:: SLC43A3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.57414697C>A, NC_000011.9:g.57182170C>A, NM_014096.4:c.978G>T, NM_014096.3:c.978G>T, NM_199329.3:c.978G>T, NM_199329.2:c.978G>T, NM_017611.3:c.978G>T, NM_017611.2:c.978G>T, NM_001278206.2:c.1017G>T, NM_001278206.1:c.1017G>T, NM_001278201.2:c.978G>T, NM_001278201.1:c.978G>T, NP_054815.2:p.Gln326His, NP_955361.1:p.Gln326His, NP_060081.1:p.Gln326His, NP_001265135.1:p.Gln339His, NP_001265130.1:p.Gln326His

Select item 144960248319.

rs1449602483 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:57425642 (GRCh38)
11:57193115 (GRCh37)
Canonical SPDI:: NC_000011.10:57425641:T:C
Gene:: SLC43A3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.57425642T>C, NC_000011.9:g.57193115T>C, NM_014096.4:c.213A>G, NM_014096.3:c.213A>G, NM_199329.3:c.213A>G, NM_199329.2:c.213A>G, NM_017611.3:c.213A>G, NM_017611.2:c.213A>G, NM_001278206.2:c.252A>G, NM_001278206.1:c.252A>G, NM_001278201.2:c.213A>G, NM_001278201.1:c.213A>G

Select item 144558537320.

rs1445585373 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:57409200 (GRCh38)
11:57176673 (GRCh37)
Canonical SPDI:: NC_000011.10:57409199:C:A
Gene:: SLC43A3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.57409200C>A, NC_000011.9:g.57176673C>A, NM_014096.4:c.1346G>T, NM_014096.3:c.1346G>T, NM_199329.3:c.1346G>T, NM_199329.2:c.1346G>T, NM_017611.3:c.1346G>T, NM_017611.2:c.1346G>T, NM_001278206.2:c.1385G>T, NM_001278206.1:c.1385G>T, NM_001278201.2:c.1346G>T, NM_001278201.1:c.1346G>T, NP_054815.2:p.Gly449Val, NP_955361.1:p.Gly449Val, NP_060081.1:p.Gly449Val, NP_001265135.1:p.Gly462Val, NP_001265130.1:p.Gly449Val

dbSNP

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