SNP Links for Protein (Select 12408654) - SNP

Links from Protein

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Select item 14858985241.

rs1485898524 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62617089 (GRCh38)
11:62384561 (GRCh37)
Canonical SPDI:: NC_000011.10:62617088:C:T
Gene:: B3GAT3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62617089C>T, NC_000011.9:g.62384561C>T, NG_031863.1:g.10087G>A, NM_012200.4:c.516G>A, NM_012200.3:c.516G>A, NM_001288723.2:c.516G>A, NM_001288723.1:c.516G>A, NM_001288722.2:c.516G>A, NM_001288722.1:c.516G>A, NM_001288721.2:c.495G>A, NM_001288721.1:c.495G>A, NR_109991.2:n.545G>A, NR_109991.1:n.734G>A, NG_009845.1:g.9349C>T, XM_047426751.1:c.495G>A

Select item 14855745472.

rs1485574547 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62616741 (GRCh38)
11:62384213 (GRCh37)
Canonical SPDI:: NC_000011.10:62616740:C:T
Gene:: B3GAT3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62616741C>T, NC_000011.9:g.62384213C>T, NG_031863.1:g.10435G>A, NM_012200.4:c.674G>A, NM_012200.3:c.674G>A, NM_001288723.2:c.674G>A, NM_001288723.1:c.674G>A, NM_001288722.2:c.674G>A, NM_001288722.1:c.674G>A, NM_001288721.2:c.653G>A, NM_001288721.1:c.653G>A, NR_109991.2:n.703G>A, NR_109991.1:n.892G>A, NG_009845.1:g.9001C>T, XM_047426751.1:c.653G>A, NP_036332.2:p.Arg225Gln, NP_001275652.1:p.Arg225Gln, NP_001275651.1:p.Arg225Gln, NP_001275650.1:p.Arg218Gln, XP_047282707.1:p.Arg218Gln

Select item 14767521943.

rs1476752194 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62617229 (GRCh38)
11:62384701 (GRCh37)
Canonical SPDI:: NC_000011.10:62617228:C:T
Gene:: B3GAT3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.62617229C>T, NC_000011.9:g.62384701C>T, NG_031863.1:g.9947G>A, NM_012200.4:c.376G>A, NM_012200.3:c.376G>A, NM_001288723.2:c.376G>A, NM_001288723.1:c.376G>A, NM_001288722.2:c.376G>A, NM_001288722.1:c.376G>A, NM_001288721.2:c.355G>A, NM_001288721.1:c.355G>A, NR_109991.2:n.405G>A, NR_109991.1:n.594G>A, XM_047426751.1:c.355G>A, NP_036332.2:p.Ala126Thr, NP_001275652.1:p.Ala126Thr, NP_001275651.1:p.Ala126Thr, NP_001275650.1:p.Ala119Thr, XP_047282707.1:p.Ala119Thr

Select item 14766327774.

rs1476632777 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62617244 (GRCh38)
11:62384716 (GRCh37)
Canonical SPDI:: NC_000011.10:62617243:C:T
Gene:: B3GAT3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62617244C>T, NC_000011.9:g.62384716C>T, NG_031863.1:g.9932G>A, NM_012200.4:c.361G>A, NM_012200.3:c.361G>A, NM_001288723.2:c.361G>A, NM_001288723.1:c.361G>A, NM_001288722.2:c.361G>A, NM_001288722.1:c.361G>A, NM_001288721.2:c.340G>A, NM_001288721.1:c.340G>A, NR_109991.2:n.390G>A, NR_109991.1:n.579G>A, XM_047426751.1:c.340G>A, NP_036332.2:p.Val121Ile, NP_001275652.1:p.Val121Ile, NP_001275651.1:p.Val121Ile, NP_001275650.1:p.Val114Ile, XP_047282707.1:p.Val114Ile

Select item 14731915635.

rs1473191563 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62620575 (GRCh38)
11:62388047 (GRCh37)
Canonical SPDI:: NC_000011.10:62620574:C:T
Gene:: B3GAT3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.62620575C>T, NC_000011.9:g.62388047C>T, NG_031863.1:g.6601G>A, NM_012200.4:c.179G>A, NM_012200.3:c.179G>A, NM_001288723.2:c.179G>A, NM_001288723.1:c.179G>A, NM_001288722.2:c.179G>A, NM_001288722.1:c.179G>A, NM_001288721.2:c.158G>A, NM_001288721.1:c.158G>A, NR_109991.2:n.208G>A, NR_109991.1:n.397G>A, XM_047426751.1:c.158G>A, NP_036332.2:p.Arg60Gln, NP_001275652.1:p.Arg60Gln, NP_001275651.1:p.Arg60Gln, NP_001275650.1:p.Arg53Gln, XP_047282707.1:p.Arg53Gln

Select item 14731169636.

rs1473116963 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62620658 (GRCh38)
11:62388130 (GRCh37)
Canonical SPDI:: NC_000011.10:62620657:G:A
Gene:: B3GAT3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_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_000011.10:g.62620658G>A, NC_000011.9:g.62388130G>A, NG_031863.1:g.6518C>T, NM_012200.4:c.96C>T, NM_012200.3:c.96C>T, NM_001288723.2:c.96C>T, NM_001288723.1:c.96C>T, NM_001288722.2:c.96C>T, NM_001288722.1:c.96C>T, NM_001288721.2:c.75C>T, NM_001288721.1:c.75C>T, NR_109991.2:n.125C>T, NR_109991.1:n.314C>T, XM_047426751.1:c.75C>T

Select item 14697852227.

rs1469785222 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62620572 (GRCh38)
11:62388044 (GRCh37)
Canonical SPDI:: NC_000011.10:62620571:G:A
Gene:: B3GAT3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62620572G>A, NC_000011.9:g.62388044G>A, NG_031863.1:g.6604C>T, NM_012200.4:c.182C>T, NM_012200.3:c.182C>T, NM_001288723.2:c.182C>T, NM_001288723.1:c.182C>T, NM_001288722.2:c.182C>T, NM_001288722.1:c.182C>T, NM_001288721.2:c.161C>T, NM_001288721.1:c.161C>T, NR_109991.2:n.211C>T, NR_109991.1:n.400C>T, XM_047426751.1:c.161C>T, NP_036332.2:p.Pro61Leu, NP_001275652.1:p.Pro61Leu, NP_001275651.1:p.Pro61Leu, NP_001275650.1:p.Pro54Leu, XP_047282707.1:p.Pro54Leu

Select item 14643278148.

rs1464327814 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 11:62620529 (GRCh38)
11:62388001 (GRCh37)
Canonical SPDI:: NC_000011.10:62620528:A:
Gene:: B3GAT3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62620529del, NC_000011.9:g.62388001del, NG_031863.1:g.6647del, NM_012200.4:c.225del, NM_012200.3:c.225del, NM_001288723.2:c.225del, NM_001288723.1:c.225del, NM_001288722.2:c.225del, NM_001288722.1:c.225del, NM_001288721.2:c.204del, NM_001288721.1:c.204del, NR_109991.2:n.254del, NR_109991.1:n.443del, XM_047426751.1:c.204del, NP_036332.2:p.Thr76fs, NP_001275652.1:p.Thr76fs, NP_001275651.1:p.Thr76fs, NP_001275650.1:p.Thr69fs, XP_047282707.1:p.Thr69fs

Select item 14615656589.

rs1461565658 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62620639 (GRCh38)
11:62388111 (GRCh37)
Canonical SPDI:: NC_000011.10:62620638:C:T
Gene:: B3GAT3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000011.10:g.62620639C>T, NC_000011.9:g.62388111C>T, NG_031863.1:g.6537G>A, NM_012200.4:c.115G>A, NM_012200.3:c.115G>A, NM_001288723.2:c.115G>A, NM_001288723.1:c.115G>A, NM_001288722.2:c.115G>A, NM_001288722.1:c.115G>A, NM_001288721.2:c.94G>A, NM_001288721.1:c.94G>A, NR_109991.2:n.144G>A, NR_109991.1:n.333G>A, XM_047426751.1:c.94G>A, NP_036332.2:p.Ala39Thr, NP_001275652.1:p.Ala39Thr, NP_001275651.1:p.Ala39Thr, NP_001275650.1:p.Ala32Thr, XP_047282707.1:p.Ala32Thr

Select item 146113568610.

rs1461135686 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:62620581 (GRCh38)
11:62388053 (GRCh37)
Canonical SPDI:: NC_000011.10:62620580:A:T
Gene:: B3GAT3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62620581A>T, NC_000011.9:g.62388053A>T, NG_031863.1:g.6595T>A, NM_012200.4:c.173T>A, NM_012200.3:c.173T>A, NM_001288723.2:c.173T>A, NM_001288723.1:c.173T>A, NM_001288722.2:c.173T>A, NM_001288722.1:c.173T>A, NM_001288721.2:c.152T>A, NM_001288721.1:c.152T>A, NR_109991.2:n.202T>A, NR_109991.1:n.391T>A, XM_047426751.1:c.152T>A, NP_036332.2:p.Leu58His, NP_001275652.1:p.Leu58His, NP_001275651.1:p.Leu58His, NP_001275650.1:p.Leu51His, XP_047282707.1:p.Leu51His

Select item 146103855311.

rs1461038553 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:62617331 (GRCh38)
11:62384803 (GRCh37)
Canonical SPDI:: NC_000011.10:62617330:C:A
Gene:: B3GAT3 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62617331C>A, NC_000011.9:g.62384803C>A, NG_031863.1:g.9845G>T, NM_012200.4:c.274G>T, NM_012200.3:c.274G>T, NM_001288723.2:c.274G>T, NM_001288723.1:c.274G>T, NM_001288722.2:c.274G>T, NM_001288722.1:c.274G>T, NM_001288721.2:c.253G>T, NM_001288721.1:c.253G>T, NR_109991.2:n.303G>T, NR_109991.1:n.492G>T, XM_047426751.1:c.253G>T, NP_036332.2:p.Glu92Ter, NP_001275652.1:p.Glu92Ter, NP_001275651.1:p.Glu92Ter, NP_001275650.1:p.Glu85Ter, XP_047282707.1:p.Glu85Ter

Select item 145503148512.

rs1455031485 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62617173 (GRCh38)
11:62384645 (GRCh37)
Canonical SPDI:: NC_000011.10:62617172:C:T
Gene:: B3GAT3 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62617173C>T, NC_000011.9:g.62384645C>T, NG_031863.1:g.10003G>A, NM_012200.4:c.432G>A, NM_012200.3:c.432G>A, NM_001288723.2:c.432G>A, NM_001288723.1:c.432G>A, NM_001288722.2:c.432G>A, NM_001288722.1:c.432G>A, NM_001288721.2:c.411G>A, NM_001288721.1:c.411G>A, NR_109991.2:n.461G>A, NR_109991.1:n.650G>A, XM_047426751.1:c.411G>A

Select item 145442891513.

rs1454428915 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:62616708 (GRCh38)
11:62384180 (GRCh37)
Canonical SPDI:: NC_000011.10:62616707:A:T
Gene:: B3GAT3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance,likely-pathogenic
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62616708A>T, NC_000011.9:g.62384180A>T, NG_031863.1:g.10468T>A, NM_012200.4:c.707T>A, NM_012200.3:c.707T>A, NM_001288723.2:c.707T>A, NM_001288723.1:c.707T>A, NM_001288722.2:c.707T>A, NM_001288722.1:c.707T>A, NM_001288721.2:c.686T>A, NM_001288721.1:c.686T>A, NR_109991.2:n.736T>A, NR_109991.1:n.925T>A, NG_009845.1:g.8968A>T, XM_047426751.1:c.686T>A, NP_036332.2:p.Val236Glu, NP_001275652.1:p.Val236Glu, NP_001275651.1:p.Val236Glu, NP_001275650.1:p.Val229Glu, XP_047282707.1:p.Val229Glu

Select item 145104770614.

rs1451047706 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:62617020 (GRCh38)
11:62384492 (GRCh37)
Canonical SPDI:: NC_000011.10:62617019:A:G
Gene:: B3GAT3 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.62617020A>G, NC_000011.9:g.62384492A>G, NG_031863.1:g.10156T>C, NM_012200.4:c.585T>C, NM_012200.3:c.585T>C, NM_001288723.2:c.585T>C, NM_001288723.1:c.585T>C, NM_001288722.2:c.585T>C, NM_001288722.1:c.585T>C, NM_001288721.2:c.564T>C, NM_001288721.1:c.564T>C, NR_109991.2:n.614T>C, NR_109991.1:n.803T>C, NG_009845.1:g.9280A>G, XM_047426751.1:c.564T>C

Select item 144854723015.

rs1448547230 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:62620557 (GRCh38)
11:62388029 (GRCh37)
Canonical SPDI:: NC_000011.10:62620556:G:C
Gene:: B3GAT3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.62620557G>C, NC_000011.9:g.62388029G>C, NG_031863.1:g.6619C>G, NM_012200.4:c.197C>G, NM_012200.3:c.197C>G, NM_001288723.2:c.197C>G, NM_001288723.1:c.197C>G, NM_001288722.2:c.197C>G, NM_001288722.1:c.197C>G, NM_001288721.2:c.176C>G, NM_001288721.1:c.176C>G, NR_109991.2:n.226C>G, NR_109991.1:n.415C>G, XM_047426751.1:c.176C>G, NP_036332.2:p.Ala66Gly, NP_001275652.1:p.Ala66Gly, NP_001275651.1:p.Ala66Gly, NP_001275650.1:p.Ala59Gly, XP_047282707.1:p.Ala59Gly

Select item 144770201316.

rs1447702013 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAGT>- [Show Flanks]
Chromosome:: 11:62617305 (GRCh38)
11:62384777 (GRCh37)
Canonical SPDI:: NC_000011.10:62617303:TCAGT:T
Gene:: B3GAT3 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.62617305_62617308del, NC_000011.9:g.62384777_62384780del, NG_031863.1:g.9869_9872del, NM_012200.4:c.298_301del, NM_012200.3:c.298_301del, NM_001288723.2:c.298_301del, NM_001288723.1:c.298_301del, NM_001288722.2:c.298_301del, NM_001288722.1:c.298_301del, NM_001288721.2:c.277_280del, NM_001288721.1:c.277_280del, NR_109991.2:n.327_330del, NR_109991.1:n.516_519del, XM_047426751.1:c.277_280del, NP_036332.2:p.Leu100fs, NP_001275652.1:p.Leu100fs, NP_001275651.1:p.Leu100fs, NP_001275650.1:p.Leu93fs, XP_047282707.1:p.Leu93fs

Select item 144572195017.

rs1445721950 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:62616688 (GRCh38)
11:62384160 (GRCh37)
Canonical SPDI:: NC_000011.10:62616687:A:G
Gene:: B3GAT3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62616688A>G, NC_000011.9:g.62384160A>G, NG_031863.1:g.10488T>C, NM_012200.4:c.727T>C, NM_012200.3:c.727T>C, NM_001288723.2:c.727T>C, NM_001288723.1:c.727T>C, NM_001288722.2:c.727T>C, NM_001288722.1:c.727T>C, NM_001288721.2:c.706T>C, NM_001288721.1:c.706T>C, NR_109991.2:n.756T>C, NR_109991.1:n.945T>C, NG_009845.1:g.8948A>G, XM_047426751.1:c.706T>C, NP_036332.2:p.Trp243Arg, NP_001275652.1:p.Trp243Arg, NP_001275651.1:p.Trp243Arg, NP_001275650.1:p.Trp236Arg, XP_047282707.1:p.Trp236Arg

Select item 144217922018.

rs1442179220 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62620532 (GRCh38)
11:62388004 (GRCh37)
Canonical SPDI:: NC_000011.10:62620531:C:T
Gene:: B3GAT3 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_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_000011.10:g.62620532C>T, NC_000011.9:g.62388004C>T, NG_031863.1:g.6644G>A, NM_012200.4:c.222G>A, NM_012200.3:c.222G>A, NM_001288723.2:c.222G>A, NM_001288723.1:c.222G>A, NM_001288722.2:c.222G>A, NM_001288722.1:c.222G>A, NM_001288721.2:c.201G>A, NM_001288721.1:c.201G>A, NR_109991.2:n.251G>A, NR_109991.1:n.440G>A, XM_047426751.1:c.201G>A

Select item 144097022719.

rs1440970227 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62620588 (GRCh38)
11:62388060 (GRCh37)
Canonical SPDI:: NC_000011.10:62620587:C:T
Gene:: B3GAT3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62620588C>T, NC_000011.9:g.62388060C>T, NG_031863.1:g.6588G>A, NM_012200.4:c.166G>A, NM_012200.3:c.166G>A, NM_001288723.2:c.166G>A, NM_001288723.1:c.166G>A, NM_001288722.2:c.166G>A, NM_001288722.1:c.166G>A, NM_001288721.2:c.145G>A, NM_001288721.1:c.145G>A, NR_109991.2:n.195G>A, NR_109991.1:n.384G>A, XM_047426751.1:c.145G>A, NP_036332.2:p.Ala56Thr, NP_001275652.1:p.Ala56Thr, NP_001275651.1:p.Ala56Thr, NP_001275650.1:p.Ala49Thr, XP_047282707.1:p.Ala49Thr

Select item 144033964920.

rs1440339649 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCAGAAGACTGCTCTCCAGGTGGC>- [Show Flanks]
Chromosome:: 11:62616559 (GRCh38)
11:62384031 (GRCh37)
Canonical SPDI:: NC_000011.10:62616551:AGGTGGCTCAGAAGACTGCTCTCCAGGTGGC:AGGTGGC
Gene:: B3GAT3 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62616559_62616582del, NC_000011.9:g.62384031_62384054del, NG_031863.1:g.10601_10624del, NM_012200.4:c.840_863del, NM_012200.3:c.840_863del, NM_001288723.2:c.840_863del, NM_001288723.1:c.840_863del, NM_001288722.2:c.840_863del, NM_001288722.1:c.840_863del, NM_001288721.2:c.819_842del, NM_001288721.1:c.819_842del, NR_109991.2:n.869_892del, NR_109991.1:n.1058_1081del, NG_009845.1:g.8819_8842del, XM_047426751.1:c.819_842del, NP_036332.2:p.Glu281_Leu288del, NP_001275652.1:p.Glu281_Leu288del, NP_001275651.1:p.Glu281_Leu288del, NP_001275650.1:p.Glu274_Leu281del, XP_047282707.1:p.Glu274_Leu281del

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