SNP Links for Protein (Select 768017740) - SNP

Links from Protein

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Select item 14905759451.

rs1490575945 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:48650131 (GRCh38)
20:47266669 (GRCh37)
Canonical SPDI:: NC_000020.11:48650130:G:A
Gene:: PREX1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.48650131G>A, NC_000020.10:g.47266669G>A, NM_020820.4:c.2893C>T, NM_020820.3:c.2893C>T, XM_011528934.2:c.1693C>T, XM_011528934.1:c.1693C>T, XM_047440331.1:c.2368C>T, XM_047440332.1:c.2368C>T, XM_047440333.1:c.2368C>T, XM_047440334.1:c.1030C>T

Select item 14896911872.

rs1489691187 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:48632518 (GRCh38)
20:47249056 (GRCh37)
Canonical SPDI:: NC_000020.11:48632517:C:A
Gene:: PREX1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.48632518C>A, NC_000020.10:g.47249056C>A, NM_020820.4:c.4389G>T, NM_020820.3:c.4389G>T, XM_011528934.2:c.3189G>T, XM_011528934.1:c.3189G>T, XM_047440331.1:c.3864G>T, XM_047440332.1:c.3864G>T, XM_047440333.1:c.3864G>T, XM_047440334.1:c.2526G>T

Select item 14895718643.

rs1489571864 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:48657074 (GRCh38)
20:47273612 (GRCh37)
Canonical SPDI:: NC_000020.11:48657073:G:A
Gene:: PREX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.48657074G>A, NC_000020.10:g.47273612G>A, NM_020820.4:c.2089C>T, NM_020820.3:c.2089C>T, XM_011528934.2:c.889C>T, XM_011528934.1:c.889C>T, XM_047440331.1:c.1564C>T, XM_047440332.1:c.1564C>T, XM_047440333.1:c.1564C>T, XM_047440334.1:c.226C>T, NP_065871.3:p.Pro697Ser, XP_011527236.1:p.Pro297Ser, XP_047296287.1:p.Pro522Ser, XP_047296288.1:p.Pro522Ser, XP_047296289.1:p.Pro522Ser, XP_047296290.1:p.Pro76Ser

Select item 14893546194.

rs1489354619 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:48632584 (GRCh38)
20:47249122 (GRCh37)
Canonical SPDI:: NC_000020.11:48632583:G:C
Gene:: PREX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.48632584G>C, NC_000020.10:g.47249122G>C, NM_020820.4:c.4323C>G, NM_020820.3:c.4323C>G, XM_011528934.2:c.3123C>G, XM_011528934.1:c.3123C>G, XM_047440331.1:c.3798C>G, XM_047440332.1:c.3798C>G, XM_047440333.1:c.3798C>G, XM_047440334.1:c.2460C>G, NP_065871.3:p.Phe1441Leu, XP_011527236.1:p.Phe1041Leu, XP_047296287.1:p.Phe1266Leu, XP_047296288.1:p.Phe1266Leu, XP_047296289.1:p.Phe1266Leu, XP_047296290.1:p.Phe820Leu

Select item 14893470355.

rs1489347035 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:48650185 (GRCh38)
20:47266723 (GRCh37)
Canonical SPDI:: NC_000020.11:48650184:T:C
Gene:: PREX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.48650185T>C, NC_000020.10:g.47266723T>C, NM_020820.4:c.2839A>G, NM_020820.3:c.2839A>G, XM_011528934.2:c.1639A>G, XM_011528934.1:c.1639A>G, XM_047440331.1:c.2314A>G, XM_047440332.1:c.2314A>G, XM_047440333.1:c.2314A>G, XM_047440334.1:c.976A>G, NP_065871.3:p.Arg947Gly, XP_011527236.1:p.Arg547Gly, XP_047296287.1:p.Arg772Gly, XP_047296288.1:p.Arg772Gly, XP_047296289.1:p.Arg772Gly, XP_047296290.1:p.Arg326Gly

Select item 14891716986.

rs1489171698 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:48651044 (GRCh38)
20:47267582 (GRCh37)
Canonical SPDI:: NC_000020.11:48651043:G:A
Gene:: PREX1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.48651044G>A, NC_000020.10:g.47267582G>A, NM_020820.4:c.2667C>T, NM_020820.3:c.2667C>T, XM_011528934.2:c.1467C>T, XM_011528934.1:c.1467C>T, XM_047440331.1:c.2142C>T, XM_047440332.1:c.2142C>T, XM_047440333.1:c.2142C>T, XM_047440334.1:c.804C>T

Select item 14891485087.

rs1489148508 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:48649387 (GRCh38)
20:47265925 (GRCh37)
Canonical SPDI:: NC_000020.11:48649386:C:A,NC_000020.11:48649386:C:T
Gene:: PREX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.48649387C>A, NC_000020.11:g.48649387C>T, NC_000020.10:g.47265925C>A, NC_000020.10:g.47265925C>T, NM_020820.4:c.3218G>T, NM_020820.4:c.3218G>A, NM_020820.3:c.3218G>T, NM_020820.3:c.3218G>A, XM_011528934.2:c.2018G>T, XM_011528934.2:c.2018G>A, XM_011528934.1:c.2018G>T, XM_011528934.1:c.2018G>A, XM_047440331.1:c.2693G>T, XM_047440331.1:c.2693G>A, XM_047440332.1:c.2693G>T, XM_047440332.1:c.2693G>A, XM_047440333.1:c.2693G>T, XM_047440333.1:c.2693G>A, XM_047440334.1:c.1355G>T, XM_047440334.1:c.1355G>A, NP_065871.3:p.Arg1073Leu, NP_065871.3:p.Arg1073His, XP_011527236.1:p.Arg673Leu, XP_011527236.1:p.Arg673His, XP_047296287.1:p.Arg898Leu, XP_047296287.1:p.Arg898His, XP_047296288.1:p.Arg898Leu, XP_047296288.1:p.Arg898His, XP_047296289.1:p.Arg898Leu, XP_047296289.1:p.Arg898His, XP_047296290.1:p.Arg452Leu, XP_047296290.1:p.Arg452His

Select item 14880764388.

rs1488076438 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:48636627 (GRCh38)
20:47253165 (GRCh37)
Canonical SPDI:: NC_000020.11:48636626:C:T
Gene:: PREX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.48636627C>T, NC_000020.10:g.47253165C>T, NM_020820.4:c.4003G>A, NM_020820.3:c.4003G>A, XM_011528934.2:c.2803G>A, XM_011528934.1:c.2803G>A, XM_047440331.1:c.3478G>A, XM_047440332.1:c.3478G>A, XM_047440333.1:c.3478G>A, XM_047440334.1:c.2140G>A, NP_065871.3:p.Val1335Met, XP_011527236.1:p.Val935Met, XP_047296287.1:p.Val1160Met, XP_047296288.1:p.Val1160Met, XP_047296289.1:p.Val1160Met, XP_047296290.1:p.Val714Met

Select item 14870071579.

rs1487007157 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:48655344 (GRCh38)
20:47271882 (GRCh37)
Canonical SPDI:: NC_000020.11:48655343:G:A
Gene:: PREX1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.48655344G>A, NC_000020.10:g.47271882G>A, NM_020820.4:c.2155C>T, NM_020820.3:c.2155C>T, XM_011528934.2:c.955C>T, XM_011528934.1:c.955C>T, XM_047440331.1:c.1630C>T, XM_047440332.1:c.1630C>T, XM_047440333.1:c.1630C>T, XM_047440334.1:c.292C>T

Select item 148630610310.

rs1486306103 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:48632509 (GRCh38)
20:47249047 (GRCh37)
Canonical SPDI:: NC_000020.11:48632508:C:T
Gene:: PREX1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.48632509C>T, NC_000020.10:g.47249047C>T, NM_020820.4:c.4398G>A, NM_020820.3:c.4398G>A, XM_011528934.2:c.3198G>A, XM_011528934.1:c.3198G>A, XM_047440331.1:c.3873G>A, XM_047440332.1:c.3873G>A, XM_047440333.1:c.3873G>A, XM_047440334.1:c.2535G>A

Select item 148523982811.

rs1485239828 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:48650916 (GRCh38)
20:47267454 (GRCh37)
Canonical SPDI:: NC_000020.11:48650915:T:C
Gene:: PREX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.48650916T>C, NC_000020.10:g.47267454T>C, NM_020820.4:c.2795A>G, NM_020820.3:c.2795A>G, XM_011528934.2:c.1595A>G, XM_011528934.1:c.1595A>G, XM_047440331.1:c.2270A>G, XM_047440332.1:c.2270A>G, XM_047440333.1:c.2270A>G, XM_047440334.1:c.932A>G, NP_065871.3:p.Gln932Arg, XP_011527236.1:p.Gln532Arg, XP_047296287.1:p.Gln757Arg, XP_047296288.1:p.Gln757Arg, XP_047296289.1:p.Gln757Arg, XP_047296290.1:p.Gln311Arg

Select item 148513805212.

rs1485138052 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:48644443 (GRCh38)
20:47260981 (GRCh37)
Canonical SPDI:: NC_000020.11:48644442:G:A
Gene:: PREX1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.48644443G>A, NC_000020.10:g.47260981G>A, NM_020820.4:c.3567C>T, NM_020820.3:c.3567C>T, XM_011528934.2:c.2367C>T, XM_011528934.1:c.2367C>T, XM_047440331.1:c.3042C>T, XM_047440332.1:c.3042C>T, XM_047440333.1:c.3042C>T, XM_047440334.1:c.1704C>T

Select item 148480763813.

rs1484807638 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:48642240 (GRCh38)
20:47258778 (GRCh37)
Canonical SPDI:: NC_000020.11:48642239:G:A
Gene:: PREX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.48642240G>A, NC_000020.10:g.47258778G>A, NM_020820.4:c.3703C>T, NM_020820.3:c.3703C>T, XM_011528934.2:c.2503C>T, XM_011528934.1:c.2503C>T, XM_047440331.1:c.3178C>T, XM_047440332.1:c.3178C>T, XM_047440333.1:c.3178C>T, XM_047440334.1:c.1840C>T, NP_065871.3:p.Leu1235Phe, XP_011527236.1:p.Leu835Phe, XP_047296287.1:p.Leu1060Phe, XP_047296288.1:p.Leu1060Phe, XP_047296289.1:p.Leu1060Phe, XP_047296290.1:p.Leu614Phe

Select item 148469473614.

rs1484694736 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:48636567 (GRCh38)
20:47253105 (GRCh37)
Canonical SPDI:: NC_000020.11:48636566:C:G,NC_000020.11:48636566:C:T
Gene:: PREX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.48636567C>G, NC_000020.11:g.48636567C>T, NC_000020.10:g.47253105C>G, NC_000020.10:g.47253105C>T, NM_020820.4:c.4063G>C, NM_020820.4:c.4063G>A, NM_020820.3:c.4063G>C, NM_020820.3:c.4063G>A, XM_011528934.2:c.2863G>C, XM_011528934.2:c.2863G>A, XM_011528934.1:c.2863G>C, XM_011528934.1:c.2863G>A, XM_047440331.1:c.3538G>C, XM_047440331.1:c.3538G>A, XM_047440332.1:c.3538G>C, XM_047440332.1:c.3538G>A, XM_047440333.1:c.3538G>C, XM_047440333.1:c.3538G>A, XM_047440334.1:c.2200G>C, XM_047440334.1:c.2200G>A, NP_065871.3:p.Glu1355Gln, NP_065871.3:p.Glu1355Lys, XP_011527236.1:p.Glu955Gln, XP_011527236.1:p.Glu955Lys, XP_047296287.1:p.Glu1180Gln, XP_047296287.1:p.Glu1180Lys, XP_047296288.1:p.Glu1180Gln, XP_047296288.1:p.Glu1180Lys, XP_047296289.1:p.Glu1180Gln, XP_047296289.1:p.Glu1180Lys, XP_047296290.1:p.Glu734Gln, XP_047296290.1:p.Glu734Lys

Select item 147998723515.

rs1479987235 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:48642197 (GRCh38)
20:47258735 (GRCh37)
Canonical SPDI:: NC_000020.11:48642196:T:C
Gene:: PREX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
C=0.000318/5 (TOMMO)
C=0.000342/1 (KOREAN)
HGVS:: NC_000020.11:g.48642197T>C, NC_000020.10:g.47258735T>C, NM_020820.4:c.3746A>G, NM_020820.3:c.3746A>G, XM_011528934.2:c.2546A>G, XM_011528934.1:c.2546A>G, XM_047440331.1:c.3221A>G, XM_047440332.1:c.3221A>G, XM_047440333.1:c.3221A>G, XM_047440334.1:c.1883A>G, NP_065871.3:p.Lys1249Arg, XP_011527236.1:p.Lys849Arg, XP_047296287.1:p.Lys1074Arg, XP_047296288.1:p.Lys1074Arg, XP_047296289.1:p.Lys1074Arg, XP_047296290.1:p.Lys628Arg

Select item 147852393616.

rs1478523936 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:48627548 (GRCh38)
20:47244086 (GRCh37)
Canonical SPDI:: NC_000020.11:48627547:C:T
Gene:: PREX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000020.11:g.48627548C>T, NC_000020.10:g.47244086C>T, NM_020820.4:c.4937G>A, NM_020820.3:c.4937G>A, XM_011528934.2:c.3737G>A, XM_011528934.1:c.3737G>A, XM_047440331.1:c.4412G>A, XM_047440332.1:c.4412G>A, XM_047440333.1:c.4412G>A, XM_047440334.1:c.3074G>A, NP_065871.3:p.Arg1646His, XP_011527236.1:p.Arg1246His, XP_047296287.1:p.Arg1471His, XP_047296288.1:p.Arg1471His, XP_047296289.1:p.Arg1471His, XP_047296290.1:p.Arg1025His

Select item 147836659917.

rs1478366599 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:48639831 (GRCh38)
20:47256369 (GRCh37)
Canonical SPDI:: NC_000020.11:48639830:T:C
Gene:: PREX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.48639831T>C, NC_000020.10:g.47256369T>C, NM_020820.4:c.3839A>G, NM_020820.3:c.3839A>G, XM_011528934.2:c.2639A>G, XM_011528934.1:c.2639A>G, XM_047440331.1:c.3314A>G, XM_047440332.1:c.3314A>G, XM_047440333.1:c.3314A>G, XM_047440334.1:c.1976A>G, NP_065871.3:p.Glu1280Gly, XP_011527236.1:p.Glu880Gly, XP_047296287.1:p.Glu1105Gly, XP_047296288.1:p.Glu1105Gly, XP_047296289.1:p.Glu1105Gly, XP_047296290.1:p.Glu659Gly

Select item 147710776618.

rs1477107766 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:48681265 (GRCh38)
20:47297803 (GRCh37)
Canonical SPDI:: NC_000020.11:48681264:C:T
Gene:: PREX1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.48681265C>T, NC_000020.10:g.47297803C>T, NM_020820.4:c.1405G>A, NM_020820.3:c.1405G>A, XM_011528934.2:c.205G>A, XM_011528934.1:c.205G>A, XM_047440331.1:c.880G>A, XM_047440332.1:c.880G>A, XM_047440333.1:c.880G>A, NP_065871.3:p.Ala469Thr, XP_011527236.1:p.Ala69Thr, XP_047296287.1:p.Ala294Thr, XP_047296288.1:p.Ala294Thr, XP_047296289.1:p.Ala294Thr

Select item 147538156819.

rs1475381568 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:48660018 (GRCh38)
20:47276556 (GRCh37)
Canonical SPDI:: NC_000020.11:48660017:G:A
Gene:: PREX1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000020.11:g.48660018G>A, NC_000020.10:g.47276556G>A, NM_020820.4:c.1782C>T, NM_020820.3:c.1782C>T, XM_011528934.2:c.582C>T, XM_011528934.1:c.582C>T, XM_047440331.1:c.1257C>T, XM_047440332.1:c.1257C>T, XM_047440333.1:c.1257C>T

Select item 147471989620.

rs1474719896 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:48650070 (GRCh38)
20:47266608 (GRCh37)
Canonical SPDI:: NC_000020.11:48650069:G:A,NC_000020.11:48650069:G:T
Gene:: PREX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.48650070G>A, NC_000020.11:g.48650070G>T, NC_000020.10:g.47266608G>A, NC_000020.10:g.47266608G>T, NM_020820.4:c.2954C>T, NM_020820.4:c.2954C>A, NM_020820.3:c.2954C>T, NM_020820.3:c.2954C>A, XM_011528934.2:c.1754C>T, XM_011528934.2:c.1754C>A, XM_011528934.1:c.1754C>T, XM_011528934.1:c.1754C>A, XM_047440331.1:c.2429C>T, XM_047440331.1:c.2429C>A, XM_047440332.1:c.2429C>T, XM_047440332.1:c.2429C>A, XM_047440333.1:c.2429C>T, XM_047440333.1:c.2429C>A, XM_047440334.1:c.1091C>T, XM_047440334.1:c.1091C>A, NP_065871.3:p.Thr985Ile, NP_065871.3:p.Thr985Asn, XP_011527236.1:p.Thr585Ile, XP_011527236.1:p.Thr585Asn, XP_047296287.1:p.Thr810Ile, XP_047296287.1:p.Thr810Asn, XP_047296288.1:p.Thr810Ile, XP_047296288.1:p.Thr810Asn, XP_047296289.1:p.Thr810Ile, XP_047296289.1:p.Thr810Asn, XP_047296290.1:p.Thr364Ile, XP_047296290.1:p.Thr364Asn

dbSNP

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