SNP Links for Protein (Select 767973225) - SNP

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Links from Protein

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Select item 14909949671.

rs1490994967 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:109279713 (GRCh38)
12:109717518 (GRCh37)
Canonical SPDI:: NC_000012.12:109279712:C:A
Gene:: FOXN4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000012.12:g.109279713C>A, NC_000012.11:g.109717518C>A, XM_011537922.3:c.1515G>T, XM_011537922.2:c.1515G>T, XM_011537922.1:c.1515G>T, NM_213596.3:c.1512G>T, NM_213596.2:c.1512G>T, XM_017018818.2:c.1383G>T, XM_017018818.1:c.1383G>T, XM_047428311.1:c.1380G>T, XP_011536224.1:p.Gln505His, NP_998761.2:p.Gln504His, XP_016874307.1:p.Gln461His, XP_047284267.1:p.Gln460His

Select item 14884526502.

rs1488452650 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:109288062 (GRCh38)
12:109725867 (GRCh37)
Canonical SPDI:: NC_000012.12:109288061:T:C
Gene:: FOXN4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD_exomes)
C=0.000318/5 (TOMMO)
C=0.000684/2 (KOREAN)
HGVS:: NC_000012.12:g.109288062T>C, NC_000012.11:g.109725867T>C, XM_011537922.3:c.351A>G, XM_011537922.2:c.351A>G, XM_011537922.1:c.351A>G, NM_213596.3:c.351A>G, NM_213596.2:c.351A>G, XM_011537923.3:c.351A>G, XM_011537923.2:c.351A>G, XM_011537923.1:c.351A>G, XM_017018818.2:c.219A>G, XM_017018818.1:c.219A>G, XM_047428311.1:c.219A>G

Select item 14881811743.

rs1488181174 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:109308256 (GRCh38)
12:109746061 (GRCh37)
Canonical SPDI:: NC_000012.12:109308255:G:A
Gene:: FOXN4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.109308256G>A, NC_000012.11:g.109746061G>A, XM_011537922.3:c.66C>T, XM_011537922.2:c.66C>T, XM_011537922.1:c.66C>T, NM_213596.3:c.66C>T, NM_213596.2:c.66C>T, XM_011537923.3:c.66C>T, XM_011537923.2:c.66C>T, XM_011537923.1:c.66C>T

Select item 14873962364.

rs1487396236 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:109287472 (GRCh38)
12:109725277 (GRCh37)
Canonical SPDI:: NC_000012.12:109287471:G:A,NC_000012.12:109287471:G:C
Gene:: FOXN4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.109287472G>A, NC_000012.12:g.109287472G>C, NC_000012.11:g.109725277G>A, NC_000012.11:g.109725277G>C, XM_011537922.3:c.524C>T, XM_011537922.3:c.524C>G, XM_011537922.2:c.524C>T, XM_011537922.2:c.524C>G, XM_011537922.1:c.524C>T, XM_011537922.1:c.524C>G, NM_213596.3:c.521C>T, NM_213596.3:c.521C>G, NM_213596.2:c.521C>T, NM_213596.2:c.521C>G, XM_011537923.3:c.524C>T, XM_011537923.3:c.524C>G, XM_011537923.2:c.524C>T, XM_011537923.2:c.524C>G, XM_011537923.1:c.524C>T, XM_011537923.1:c.524C>G, XM_017018818.2:c.392C>T, XM_017018818.2:c.392C>G, XM_017018818.1:c.392C>T, XM_017018818.1:c.392C>G, XM_047428311.1:c.389C>T, XM_047428311.1:c.389C>G, XP_011536224.1:p.Pro175Leu, XP_011536224.1:p.Pro175Arg, NP_998761.2:p.Pro174Leu, NP_998761.2:p.Pro174Arg, XP_011536225.1:p.Pro175Leu, XP_011536225.1:p.Pro175Arg, XP_016874307.1:p.Pro131Leu, XP_016874307.1:p.Pro131Arg, XP_047284267.1:p.Pro130Leu, XP_047284267.1:p.Pro130Arg

Select item 14839814855.

rs1483981485 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:109288077 (GRCh38)
12:109725882 (GRCh37)
Canonical SPDI:: NC_000012.12:109288076:G:A
Gene:: FOXN4 (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)
HGVS:: NC_000012.12:g.109288077G>A, NC_000012.11:g.109725882G>A, XM_011537922.3:c.336C>T, XM_011537922.2:c.336C>T, XM_011537922.1:c.336C>T, NM_213596.3:c.336C>T, NM_213596.2:c.336C>T, XM_011537923.3:c.336C>T, XM_011537923.2:c.336C>T, XM_011537923.1:c.336C>T, XM_017018818.2:c.204C>T, XM_017018818.1:c.204C>T, XM_047428311.1:c.204C>T

Select item 14822844896.

rs1482284489 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:109279765 (GRCh38)
12:109717570 (GRCh37)
Canonical SPDI:: NC_000012.12:109279764:G:A
Gene:: FOXN4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_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=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.109279765G>A, NC_000012.11:g.109717570G>A, XM_011537922.3:c.1463C>T, XM_011537922.2:c.1463C>T, XM_011537922.1:c.1463C>T, NM_213596.3:c.1460C>T, NM_213596.2:c.1460C>T, XM_017018818.2:c.1331C>T, XM_017018818.1:c.1331C>T, XM_047428311.1:c.1328C>T, XP_011536224.1:p.Ala488Val, NP_998761.2:p.Ala487Val, XP_016874307.1:p.Ala444Val, XP_047284267.1:p.Ala443Val

Select item 14816752807.

rs1481675280 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:109285423 (GRCh38)
12:109723228 (GRCh37)
Canonical SPDI:: NC_000012.12:109285422:G:A
Gene:: FOXN4 (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=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.109285423G>A, NC_000012.11:g.109723228G>A, XM_011537922.3:c.785C>T, XM_011537922.2:c.785C>T, XM_011537922.1:c.785C>T, NM_213596.3:c.782C>T, NM_213596.2:c.782C>T, XM_011537923.3:c.785C>T, XM_011537923.2:c.785C>T, XM_011537923.1:c.785C>T, XM_017018818.2:c.653C>T, XM_017018818.1:c.653C>T, XM_047428311.1:c.650C>T, XP_011536224.1:p.Ser262Phe, NP_998761.2:p.Ser261Phe, XP_011536225.1:p.Ser262Phe, XP_016874307.1:p.Ser218Phe, XP_047284267.1:p.Ser217Phe

Select item 14812458358.

rs1481245835 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:109281609 (GRCh38)
12:109719414 (GRCh37)
Canonical SPDI:: NC_000012.12:109281608:C:A
Gene:: FOXN4 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_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_000012.12:g.109281609C>A, NC_000012.11:g.109719414C>A, XM_011537922.3:c.1095G>T, XM_011537922.2:c.1095G>T, XM_011537922.1:c.1095G>T, NM_213596.3:c.1092G>T, NM_213596.2:c.1092G>T, XM_017018818.2:c.963G>T, XM_017018818.1:c.963G>T, XM_047428311.1:c.960G>T, XP_011536224.1:p.Gln365His, NP_998761.2:p.Gln364His, XP_016874307.1:p.Gln321His, XP_047284267.1:p.Gln320His

Select item 14801316039.

rs1480131603 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:109287479 (GRCh38)
12:109725284 (GRCh37)
Canonical SPDI:: NC_000012.12:109287478:G:A
Gene:: FOXN4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000057/2 (ALFA)
A=0.000013/2 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.109287479G>A, NC_000012.11:g.109725284G>A, XM_011537922.3:c.517C>T, XM_011537922.2:c.517C>T, XM_011537922.1:c.517C>T, NM_213596.3:c.514C>T, NM_213596.2:c.514C>T, XM_011537923.3:c.517C>T, XM_011537923.2:c.517C>T, XM_011537923.1:c.517C>T, XM_017018818.2:c.385C>T, XM_017018818.1:c.385C>T, XM_047428311.1:c.382C>T, XP_011536224.1:p.Pro173Ser, NP_998761.2:p.Pro172Ser, XP_011536225.1:p.Pro173Ser, XP_016874307.1:p.Pro129Ser, XP_047284267.1:p.Pro128Ser

Select item 147996434110.

rs1479964341 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:109287458 (GRCh38)
12:109725263 (GRCh37)
Canonical SPDI:: NC_000012.12:109287457:C:A
Gene:: FOXN4 (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)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.109287458C>A, NC_000012.11:g.109725263C>A, XM_011537922.3:c.538G>T, XM_011537922.2:c.538G>T, XM_011537922.1:c.538G>T, NM_213596.3:c.535G>T, NM_213596.2:c.535G>T, XM_011537923.3:c.538G>T, XM_011537923.2:c.538G>T, XM_011537923.1:c.538G>T, XM_017018818.2:c.406G>T, XM_017018818.1:c.406G>T, XM_047428311.1:c.403G>T, XP_011536224.1:p.Ala180Ser, NP_998761.2:p.Ala179Ser, XP_011536225.1:p.Ala180Ser, XP_016874307.1:p.Ala136Ser, XP_047284267.1:p.Ala135Ser

Select item 147861263311.

rs1478612633 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:109281421 (GRCh38)
12:109719226 (GRCh37)
Canonical SPDI:: NC_000012.12:109281420:T:A
Gene:: FOXN4 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_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_000012.12:g.109281421T>A, NC_000012.11:g.109719226T>A, XM_011537922.3:c.1283A>T, XM_011537922.2:c.1283A>T, XM_011537922.1:c.1283A>T, NM_213596.3:c.1280A>T, NM_213596.2:c.1280A>T, XM_017018818.2:c.1151A>T, XM_017018818.1:c.1151A>T, XM_047428311.1:c.1148A>T, XP_011536224.1:p.Asp428Val, NP_998761.2:p.Asp427Val, XP_016874307.1:p.Asp384Val, XP_047284267.1:p.Asp383Val

Select item 147239362212.

rs1472393622 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:109281715 (GRCh38)
12:109719520 (GRCh37)
Canonical SPDI:: NC_000012.12:109281714:G:A
Gene:: FOXN4 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000012.12:g.109281715G>A, NC_000012.11:g.109719520G>A, XM_011537922.3:c.989C>T, XM_011537922.2:c.989C>T, XM_011537922.1:c.989C>T, NM_213596.3:c.986C>T, NM_213596.2:c.986C>T, XM_017018818.2:c.857C>T, XM_017018818.1:c.857C>T, XM_047428311.1:c.854C>T, XP_011536224.1:p.Thr330Ile, NP_998761.2:p.Thr329Ile, XP_016874307.1:p.Thr286Ile, XP_047284267.1:p.Thr285Ile

Select item 147154793013.

rs1471547930 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 12:109287857 (GRCh38)
12:109725662 (GRCh37)
Canonical SPDI:: NC_000012.12:109287856:GGGGGG:GGGGG
Gene:: FOXN4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: -=0.0034/24 (GoESP)
HGVS:: NC_000012.12:g.109287862del, NC_000012.11:g.109725667del, XM_011537922.3:c.458del, XM_011537922.2:c.458del, XM_011537922.1:c.458del, NM_213596.3:c.455del, NM_213596.2:c.455del, XM_011537923.3:c.458del, XM_011537923.2:c.458del, XM_011537923.1:c.458del, XM_017018818.2:c.326del, XM_017018818.1:c.326del, XM_047428311.1:c.323del, XP_011536224.1:p.Pro153fs, NP_998761.2:p.Pro152fs, XP_011536225.1:p.Pro153fs, XP_016874307.1:p.Pro109fs, XP_047284267.1:p.Pro108fs

Select item 147065357714.

rs1470653577 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:109281551 (GRCh38)
12:109719356 (GRCh37)
Canonical SPDI:: NC_000012.12:109281550:G:A
Gene:: FOXN4 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.109281551G>A, NC_000012.11:g.109719356G>A, XM_011537922.3:c.1153C>T, XM_011537922.2:c.1153C>T, XM_011537922.1:c.1153C>T, NM_213596.3:c.1150C>T, NM_213596.2:c.1150C>T, XM_017018818.2:c.1021C>T, XM_017018818.1:c.1021C>T, XM_047428311.1:c.1018C>T

Select item 146930778115.

rs1469307781 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:109308285 (GRCh38)
12:109746090 (GRCh37)
Canonical SPDI:: NC_000012.12:109308284:T:C
Gene:: FOXN4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.109308285T>C, NC_000012.11:g.109746090T>C, XM_011537922.3:c.37A>G, XM_011537922.2:c.37A>G, XM_011537922.1:c.37A>G, NM_213596.3:c.37A>G, NM_213596.2:c.37A>G, XM_011537923.3:c.37A>G, XM_011537923.2:c.37A>G, XM_011537923.1:c.37A>G, XP_011536224.1:p.Ile13Val, NP_998761.2:p.Ile13Val, XP_011536225.1:p.Ile13Val

Select item 146817980016.

rs1468179800 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:109281662 (GRCh38)
12:109719467 (GRCh37)
Canonical SPDI:: NC_000012.12:109281661:G:A
Gene:: FOXN4 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000057/15 (TOPMED)
A=0.000057/8 (GnomAD)
HGVS:: NC_000012.12:g.109281662G>A, NC_000012.11:g.109719467G>A, XM_011537922.3:c.1042C>T, XM_011537922.2:c.1042C>T, XM_011537922.1:c.1042C>T, NM_213596.3:c.1039C>T, NM_213596.2:c.1039C>T, XM_017018818.2:c.910C>T, XM_017018818.1:c.910C>T, XM_047428311.1:c.907C>T, XP_011536224.1:p.Pro348Ser, NP_998761.2:p.Pro347Ser, XP_016874307.1:p.Pro304Ser, XP_047284267.1:p.Pro303Ser

Select item 146604093917.

rs1466040939 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:109287954 (GRCh38)
12:109725759 (GRCh37)
Canonical SPDI:: NC_000012.12:109287953:T:C
Gene:: FOXN4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.109287954T>C, NC_000012.11:g.109725759T>C, XM_011537922.3:c.361A>G, XM_011537922.2:c.361A>G, XM_011537922.1:c.361A>G, NM_213596.3:c.358A>G, NM_213596.2:c.358A>G, XM_011537923.3:c.361A>G, XM_011537923.2:c.361A>G, XM_011537923.1:c.361A>G, XM_017018818.2:c.229A>G, XM_017018818.1:c.229A>G, XM_047428311.1:c.226A>G, XP_011536224.1:p.Met121Val, NP_998761.2:p.Met120Val, XP_011536225.1:p.Met121Val, XP_016874307.1:p.Met77Val, XP_047284267.1:p.Met76Val

Select item 146598609418.

rs1465986094 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:109290238 (GRCh38)
12:109728043 (GRCh37)
Canonical SPDI:: NC_000012.12:109290237:C:A,NC_000012.12:109290237:C:T
Gene:: FOXN4 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.109290238C>A, NC_000012.12:g.109290238C>T, NC_000012.11:g.109728043C>A, NC_000012.11:g.109728043C>T, XM_011537922.3:c.135G>T, XM_011537922.3:c.135G>A, XM_011537922.2:c.135G>T, XM_011537922.2:c.135G>A, XM_011537922.1:c.135G>T, XM_011537922.1:c.135G>A, NM_213596.3:c.135G>T, NM_213596.3:c.135G>A, NM_213596.2:c.135G>T, NM_213596.2:c.135G>A, XM_011537923.3:c.135G>T, XM_011537923.3:c.135G>A, XM_011537923.2:c.135G>T, XM_011537923.2:c.135G>A, XM_011537923.1:c.135G>T, XM_011537923.1:c.135G>A

Select item 146567160219.

rs1465671602 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:109285470 (GRCh38)
12:109723275 (GRCh37)
Canonical SPDI:: NC_000012.12:109285469:C:G
Gene:: FOXN4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000012.12:g.109285470C>G, NC_000012.11:g.109723275C>G, XM_011537922.3:c.738G>C, XM_011537922.2:c.738G>C, XM_011537922.1:c.738G>C, NM_213596.3:c.735G>C, NM_213596.2:c.735G>C, XM_011537923.3:c.738G>C, XM_011537923.2:c.738G>C, XM_011537923.1:c.738G>C, XM_017018818.2:c.606G>C, XM_017018818.1:c.606G>C, XM_047428311.1:c.603G>C

Select item 146566944420.

rs1465669444 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:109279876 (GRCh38)
12:109717681 (GRCh37)
Canonical SPDI:: NC_000012.12:109279875:G:A
Gene:: FOXN4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.109279876G>A, NC_000012.11:g.109717681G>A, XM_011537922.3:c.1352C>T, XM_011537922.2:c.1352C>T, XM_011537922.1:c.1352C>T, NM_213596.3:c.1349C>T, NM_213596.2:c.1349C>T, XM_017018818.2:c.1220C>T, XM_017018818.1:c.1220C>T, XM_047428311.1:c.1217C>T, XP_011536224.1:p.Ala451Val, NP_998761.2:p.Ala450Val, XP_016874307.1:p.Ala407Val, XP_047284267.1:p.Ala406Val

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