SNP Links for Protein (Select 1034603893) - SNP

Links from Protein

Items: 1 to 20 of 186

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Select item 14862714661.

rs1486271466 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 18:54591323 (GRCh38)
18:52258554 (GRCh37)
Canonical SPDI:: NC_000018.10:54591322:A:C
Gene:: DYNAP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.003275/6 (Korea1K)
HGVS:: NC_000018.10:g.54591323A>C, NC_000018.9:g.52258554A>C, XM_011525923.4:c.128A>C, XM_011525923.3:c.128A>C, XM_011525923.2:c.128A>C, XM_011525923.1:c.128A>C, NM_173629.3:c.41A>C, NM_173629.2:c.119A>C, NM_173629.1:c.119A>C, XM_017025709.2:c.128A>C, XM_017025709.1:c.128A>C, NM_001307955.1:c.128A>C, XP_011524225.1:p.His43Pro, NP_775900.2:p.His14Pro, XP_016881198.1:p.His43Pro, NP_001294884.1:p.His43Pro

Select item 14675797702.

rs1467579770 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:54598116 (GRCh38)
18:52265347 (GRCh37)
Canonical SPDI:: NC_000018.10:54598115:A:G
Gene:: DYNAP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.54598116A>G, NC_000018.9:g.52265347A>G, XM_011525923.4:c.613A>G, XM_011525923.3:c.613A>G, XM_011525923.2:c.613A>G, XM_011525923.1:c.613A>G, NM_173629.3:c.526A>G, NM_173629.2:c.604A>G, NM_173629.1:c.604A>G, XM_017025709.2:c.448A>G, XM_017025709.1:c.448A>G, NM_001307955.1:c.448A>G, XP_011524225.1:p.Ile205Val, NP_775900.2:p.Ile176Val, XP_016881198.1:p.Ile150Val, NP_001294884.1:p.Ile150Val

Select item 14646642443.

rs1464664244 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:54597947 (GRCh38)
18:52265178 (GRCh37)
Canonical SPDI:: NC_000018.10:54597946:C:T
Gene:: DYNAP (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)
T=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.54597947C>T, NC_000018.9:g.52265178C>T, XM_011525923.4:c.444C>T, XM_011525923.3:c.444C>T, XM_011525923.2:c.444C>T, XM_011525923.1:c.444C>T, NM_173629.3:c.357C>T, NM_173629.2:c.435C>T, NM_173629.1:c.435C>T, XM_017025709.2:c.279C>T, XM_017025709.1:c.279C>T, NM_001307955.1:c.279C>T

Select item 14644882214.

rs1464488221 [Homo sapiens]

Variant type:: DEL
Alleles:: CGGCC>- [Show Flanks]
Chromosome:: 18:54597934 (GRCh38)
18:52265165 (GRCh37)
Canonical SPDI:: NC_000018.10:54597933:CGGCC:
Gene:: DYNAP (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.013/59 (ALFA)
HGVS:: NC_000018.10:g.54597934_54597938del, NC_000018.9:g.52265165_52265169del, XM_011525923.4:c.431_435del, XM_011525923.3:c.431_435del, XM_011525923.2:c.431_435del, XM_011525923.1:c.431_435del, NM_173629.3:c.344_348del, NM_173629.2:c.422_426del, NM_173629.1:c.422_426del, XM_017025709.2:c.266_270del, XM_017025709.1:c.266_270del, NM_001307955.1:c.266_270del, XP_011524225.1:p.Gly143_Ser144insTer, NP_775900.2:p.Gly114_Ser115insTer, XP_016881198.1:p.Gly88_Ser89insTer, NP_001294884.1:p.Gly88_Ser89insTer

Select item 14612065705.

rs1461206570 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:54598042 (GRCh38)
18:52265273 (GRCh37)
Canonical SPDI:: NC_000018.10:54598041:C:T
Gene:: DYNAP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.54598042C>T, NC_000018.9:g.52265273C>T, XM_011525923.4:c.539C>T, XM_011525923.3:c.539C>T, XM_011525923.2:c.539C>T, XM_011525923.1:c.539C>T, NM_173629.3:c.452C>T, NM_173629.2:c.530C>T, NM_173629.1:c.530C>T, XM_017025709.2:c.374C>T, XM_017025709.1:c.374C>T, NM_001307955.1:c.374C>T, XP_011524225.1:p.Ser180Leu, NP_775900.2:p.Ser151Leu, XP_016881198.1:p.Ser125Leu, NP_001294884.1:p.Ser125Leu

Select item 14412364256.

rs1441236425 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 18:54597900 (GRCh38)
18:52265131 (GRCh37)
Canonical SPDI:: NC_000018.10:54597899:G:A,NC_000018.10:54597899:G:T
Gene:: DYNAP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.54597900G>A, NC_000018.10:g.54597900G>T, NC_000018.9:g.52265131G>A, NC_000018.9:g.52265131G>T, XM_011525923.4:c.397G>A, XM_011525923.4:c.397G>T, XM_011525923.3:c.397G>A, XM_011525923.3:c.397G>T, XM_011525923.2:c.397G>A, XM_011525923.2:c.397G>T, XM_011525923.1:c.397G>A, XM_011525923.1:c.397G>T, NM_173629.3:c.310G>A, NM_173629.3:c.310G>T, NM_173629.2:c.388G>A, NM_173629.2:c.388G>T, NM_173629.1:c.388G>A, NM_173629.1:c.388G>T, XM_017025709.2:c.232G>A, XM_017025709.2:c.232G>T, XM_017025709.1:c.232G>A, XM_017025709.1:c.232G>T, NM_001307955.1:c.232G>A, NM_001307955.1:c.232G>T, XP_011524225.1:p.Val133Ile, XP_011524225.1:p.Val133Leu, NP_775900.2:p.Val104Ile, NP_775900.2:p.Val104Leu, XP_016881198.1:p.Val78Ile, XP_016881198.1:p.Val78Leu, NP_001294884.1:p.Val78Ile, NP_001294884.1:p.Val78Leu

Select item 14360867337.

rs1436086733 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 18:54597948 (GRCh38)
18:52265179 (GRCh37)
Canonical SPDI:: NC_000018.10:54597947:A:C,NC_000018.10:54597947:A:G
Gene:: DYNAP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000018.10:g.54597948A>C, NC_000018.10:g.54597948A>G, NC_000018.9:g.52265179A>C, NC_000018.9:g.52265179A>G, XM_011525923.4:c.445A>C, XM_011525923.4:c.445A>G, XM_011525923.3:c.445A>C, XM_011525923.3:c.445A>G, XM_011525923.2:c.445A>C, XM_011525923.2:c.445A>G, XM_011525923.1:c.445A>C, XM_011525923.1:c.445A>G, NM_173629.3:c.358A>C, NM_173629.3:c.358A>G, NM_173629.2:c.436A>C, NM_173629.2:c.436A>G, NM_173629.1:c.436A>C, NM_173629.1:c.436A>G, XM_017025709.2:c.280A>C, XM_017025709.2:c.280A>G, XM_017025709.1:c.280A>C, XM_017025709.1:c.280A>G, NM_001307955.1:c.280A>C, NM_001307955.1:c.280A>G, XP_011524225.1:p.Ile149Leu, XP_011524225.1:p.Ile149Val, NP_775900.2:p.Ile120Leu, NP_775900.2:p.Ile120Val, XP_016881198.1:p.Ile94Leu, XP_016881198.1:p.Ile94Val, NP_001294884.1:p.Ile94Leu, NP_001294884.1:p.Ile94Val

Select item 14325757698.

rs1432575769 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:54597910 (GRCh38)
18:52265141 (GRCh37)
Canonical SPDI:: NC_000018.10:54597909:T:C
Gene:: DYNAP (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=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.54597910T>C, NC_000018.9:g.52265141T>C, XM_011525923.4:c.407T>C, XM_011525923.3:c.407T>C, XM_011525923.2:c.407T>C, XM_011525923.1:c.407T>C, NM_173629.3:c.320T>C, NM_173629.2:c.398T>C, NM_173629.1:c.398T>C, XM_017025709.2:c.242T>C, XM_017025709.1:c.242T>C, NM_001307955.1:c.242T>C, XP_011524225.1:p.Ile136Thr, NP_775900.2:p.Ile107Thr, XP_016881198.1:p.Ile81Thr, NP_001294884.1:p.Ile81Thr

Select item 14226334589.

rs1422633458 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 18:54597942 (GRCh38)
18:52265173 (GRCh37)
Canonical SPDI:: NC_000018.10:54597941:T:G
Gene:: DYNAP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.015/68 (ALFA)
G=0.0143/64 (Estonian)
HGVS:: NC_000018.10:g.54597942T>G, NC_000018.9:g.52265173T>G, XM_011525923.4:c.439T>G, XM_011525923.3:c.439T>G, XM_011525923.2:c.439T>G, XM_011525923.1:c.439T>G, NM_173629.3:c.352T>G, NM_173629.2:c.430T>G, NM_173629.1:c.430T>G, XM_017025709.2:c.274T>G, XM_017025709.1:c.274T>G, NM_001307955.1:c.274T>G, XP_011524225.1:p.Ser147Ala, NP_775900.2:p.Ser118Ala, XP_016881198.1:p.Ser92Ala, NP_001294884.1:p.Ser92Ala

Select item 141803063210.

rs1418030632 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 18:54591333 (GRCh38)
18:52258564 (GRCh37)
Canonical SPDI:: NC_000018.10:54591332:C:A
Gene:: DYNAP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.54591333C>A, NC_000018.9:g.52258564C>A, XM_011525923.4:c.138C>A, XM_011525923.3:c.138C>A, XM_011525923.2:c.138C>A, XM_011525923.1:c.138C>A, NM_173629.3:c.51C>A, NM_173629.2:c.129C>A, NM_173629.1:c.129C>A, XM_017025709.2:c.138C>A, XM_017025709.1:c.138C>A, NM_001307955.1:c.138C>A, XP_011524225.1:p.Asn46Lys, NP_775900.2:p.Asn17Lys, XP_016881198.1:p.Asn46Lys, NP_001294884.1:p.Asn46Lys

Select item 141775570411.

rs1417755704 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:54591271 (GRCh38)
18:52258502 (GRCh37)
Canonical SPDI:: NC_000018.10:54591270:G:A
Gene:: DYNAP (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
HGVS:: NC_000018.10:g.54591271G>A, NC_000018.9:g.52258502G>A, XM_011525923.4:c.76G>A, XM_011525923.3:c.76G>A, XM_011525923.2:c.76G>A, XM_011525923.1:c.76G>A, NM_173629.3:c.-12G>A, NM_173629.2:c.67G>A, NM_173629.1:c.67G>A, XM_017025709.2:c.76G>A, XM_017025709.1:c.76G>A, NM_001307955.1:c.76G>A, XP_011524225.1:p.Gly26Ser, XP_016881198.1:p.Gly26Ser, NP_001294884.1:p.Gly26Ser

Select item 141391760012.

rs1413917600 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 18:54591282 (GRCh38)
18:52258513 (GRCh37)
Canonical SPDI:: NC_000018.10:54591281:AA:A
Gene:: DYNAP (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,frameshift_variant,initiator_codon_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000018.10:g.54591283del, NC_000018.9:g.52258514del, XM_011525923.4:c.88del, XM_011525923.3:c.88del, XM_011525923.2:c.88del, XM_011525923.1:c.88del, NM_173629.3:c.1del, NM_173629.2:c.79del, NM_173629.1:c.79del, XM_017025709.2:c.88del, XM_017025709.1:c.88del, NM_001307955.1:c.88del, XP_011524225.1:p.Met30fs, XP_016881198.1:p.Met30fs, NP_001294884.1:p.Met30fs

Select item 141347773613.

rs1413477736 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 18:54591232 (GRCh38)
18:52258463 (GRCh37)
Canonical SPDI:: NC_000018.10:54591231:C:A,NC_000018.10:54591231:C:T
Gene:: DYNAP (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,missense_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.54591232C>A, NC_000018.10:g.54591232C>T, NC_000018.9:g.52258463C>A, NC_000018.9:g.52258463C>T, XM_011525923.4:c.37C>A, XM_011525923.4:c.37C>T, XM_011525923.3:c.37C>A, XM_011525923.3:c.37C>T, XM_011525923.2:c.37C>A, XM_011525923.2:c.37C>T, XM_011525923.1:c.37C>A, XM_011525923.1:c.37C>T, NM_173629.2:c.28C>A, NM_173629.2:c.28C>T, XM_017025709.2:c.37C>A, XM_017025709.2:c.37C>T, XM_017025709.1:c.37C>A, XM_017025709.1:c.37C>T, NM_173629.1:c.28C>A, NM_173629.1:c.28C>T, NM_001307955.1:c.37C>A, NM_001307955.1:c.37C>T, XP_011524225.1:p.Gln13Lys, XP_011524225.1:p.Gln13Ter, XP_016881198.1:p.Gln13Lys, XP_016881198.1:p.Gln13Ter, NP_001294884.1:p.Gln13Lys, NP_001294884.1:p.Gln13Ter

Select item 141333060914.

rs1413330609 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:54597956 (GRCh38)
18:52265187 (GRCh37)
Canonical SPDI:: NC_000018.10:54597955:C:T
Gene:: DYNAP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.54597956C>T, NC_000018.9:g.52265187C>T, XM_011525923.4:c.453C>T, XM_011525923.3:c.453C>T, XM_011525923.2:c.453C>T, XM_011525923.1:c.453C>T, NM_173629.3:c.366C>T, NM_173629.2:c.444C>T, NM_173629.1:c.444C>T, XM_017025709.2:c.288C>T, XM_017025709.1:c.288C>T, NM_001307955.1:c.288C>T

Select item 139753723015.

rs1397537230 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:54598067 (GRCh38)
18:52265298 (GRCh37)
Canonical SPDI:: NC_000018.10:54598066:T:C
Gene:: DYNAP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000018.10:g.54598067T>C, NC_000018.9:g.52265298T>C, XM_011525923.4:c.564T>C, XM_011525923.3:c.564T>C, XM_011525923.2:c.564T>C, XM_011525923.1:c.564T>C, NM_173629.3:c.477T>C, NM_173629.2:c.555T>C, NM_173629.1:c.555T>C, XM_017025709.2:c.399T>C, XM_017025709.1:c.399T>C, NM_001307955.1:c.399T>C

Select item 139737404216.

rs1397374042 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:54598102 (GRCh38)
18:52265333 (GRCh37)
Canonical SPDI:: NC_000018.10:54598101:C:T
Gene:: DYNAP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.54598102C>T, NC_000018.9:g.52265333C>T, XM_011525923.4:c.599C>T, XM_011525923.3:c.599C>T, XM_011525923.2:c.599C>T, XM_011525923.1:c.599C>T, NM_173629.3:c.512C>T, NM_173629.2:c.590C>T, NM_173629.1:c.590C>T, XM_017025709.2:c.434C>T, XM_017025709.1:c.434C>T, NM_001307955.1:c.434C>T, XP_011524225.1:p.Thr200Ile, NP_775900.2:p.Thr171Ile, XP_016881198.1:p.Thr145Ile, NP_001294884.1:p.Thr145Ile

Select item 139389238317.

rs1393892383 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 18:54597979 (GRCh38)
18:52265210 (GRCh37)
Canonical SPDI:: NC_000018.10:54597978:A:G,NC_000018.10:54597978:A:T
Gene:: DYNAP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000018.10:g.54597979A>G, NC_000018.10:g.54597979A>T, NC_000018.9:g.52265210A>G, NC_000018.9:g.52265210A>T, XM_011525923.4:c.476A>G, XM_011525923.4:c.476A>T, XM_011525923.3:c.476A>G, XM_011525923.3:c.476A>T, XM_011525923.2:c.476A>G, XM_011525923.2:c.476A>T, XM_011525923.1:c.476A>G, XM_011525923.1:c.476A>T, NM_173629.3:c.389A>G, NM_173629.3:c.389A>T, NM_173629.2:c.467A>G, NM_173629.2:c.467A>T, NM_173629.1:c.467A>G, NM_173629.1:c.467A>T, XM_017025709.2:c.311A>G, XM_017025709.2:c.311A>T, XM_017025709.1:c.311A>G, XM_017025709.1:c.311A>T, NM_001307955.1:c.311A>G, NM_001307955.1:c.311A>T, XP_011524225.1:p.Glu159Gly, XP_011524225.1:p.Glu159Val, NP_775900.2:p.Glu130Gly, NP_775900.2:p.Glu130Val, XP_016881198.1:p.Glu104Gly, XP_016881198.1:p.Glu104Val, NP_001294884.1:p.Glu104Gly, NP_001294884.1:p.Glu104Val

Select item 139350308218.

rs1393503082 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 18:54597815 (GRCh38)
18:52265046 (GRCh37)
Canonical SPDI:: NC_000018.10:54597814:A:T
Gene:: DYNAP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.54597815A>T, NC_000018.9:g.52265046A>T, XM_011525923.4:c.312A>T, XM_011525923.3:c.312A>T, XM_011525923.2:c.312A>T, XM_011525923.1:c.312A>T, NM_173629.3:c.225A>T, NM_173629.2:c.303A>T, NM_173629.1:c.303A>T, XM_017025709.2:c.147A>T, XM_017025709.1:c.147A>T, NM_001307955.1:c.147A>T

Select item 139262943919.

rs1392629439 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:54597888 (GRCh38)
18:52265119 (GRCh37)
Canonical SPDI:: NC_000018.10:54597887:A:G
Gene:: DYNAP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000018.10:g.54597888A>G, NC_000018.9:g.52265119A>G, XM_011525923.4:c.385A>G, XM_011525923.3:c.385A>G, XM_011525923.2:c.385A>G, XM_011525923.1:c.385A>G, NM_173629.3:c.298A>G, NM_173629.2:c.376A>G, NM_173629.1:c.376A>G, XM_017025709.2:c.220A>G, XM_017025709.1:c.220A>G, NM_001307955.1:c.220A>G, XP_011524225.1:p.Thr129Ala, NP_775900.2:p.Thr100Ala, XP_016881198.1:p.Thr74Ala, NP_001294884.1:p.Thr74Ala

Select item 139029829120.

rs1390298291 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:54597984 (GRCh38)
18:52265215 (GRCh37)
Canonical SPDI:: NC_000018.10:54597983:G:A
Gene:: DYNAP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.54597984G>A, NC_000018.9:g.52265215G>A, XM_011525923.4:c.481G>A, XM_011525923.3:c.481G>A, XM_011525923.2:c.481G>A, XM_011525923.1:c.481G>A, NM_173629.3:c.394G>A, NM_173629.2:c.472G>A, NM_173629.1:c.472G>A, XM_017025709.2:c.316G>A, XM_017025709.1:c.316G>A, NM_001307955.1:c.316G>A, XP_011524225.1:p.Val161Met, NP_775900.2:p.Val132Met, XP_016881198.1:p.Val106Met, NP_001294884.1:p.Val106Met

dbSNP

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