SNP Links for Protein (Select 66346674) - SNP

Links from Protein

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Select item 14907634491.

rs1490763449 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:77370912 (GRCh38)
9:79985828 (GRCh37)
Canonical SPDI:: NC_000009.12:77370911:G:A
Gene:: VPS13A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.77370912G>A, NC_000009.11:g.79985828G>A, NG_008931.1:g.198468G>A, NM_015186.4:c.8930G>A, NM_015186.3:c.8930G>A, NM_033305.3:c.8930G>A, NM_033305.2:c.8930G>A, NM_001018038.3:c.8930G>A, NM_001018038.2:c.8930G>A, NM_001018037.2:c.8813G>A, NM_001018037.1:c.8813G>A, NP_056001.1:p.Gly2977Glu, NP_150648.2:p.Gly2977Glu, NP_001018048.1:p.Gly2977Glu, NP_001018047.1:p.Gly2938Glu

Select item 14907501182.

rs1490750118 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:77247380 (GRCh38)
9:79862296 (GRCh37)
Canonical SPDI:: NC_000009.12:77247379:C:T
Gene:: VPS13A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000009.12:g.77247380C>T, NC_000009.11:g.79862296C>T, NG_008931.1:g.74936C>T, NM_015186.4:c.2022C>T, NM_015186.3:c.2022C>T, NM_033305.3:c.2022C>T, NM_033305.2:c.2022C>T, NM_001018038.3:c.2022C>T, NM_001018038.2:c.2022C>T, NM_001018037.2:c.2022C>T, NM_001018037.1:c.2022C>T

Select item 14902175033.

rs1490217503 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 9:77318530 (GRCh38)
9:79933446 (GRCh37)
Canonical SPDI:: NC_000009.12:77318529:T:A,NC_000009.12:77318529:T:G
Gene:: VPS13A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000009.12:g.77318530T>A, NC_000009.12:g.77318530T>G, NC_000009.11:g.79933446T>A, NC_000009.11:g.79933446T>G, NG_008931.1:g.146086T>A, NG_008931.1:g.146086T>G, NM_015186.4:c.5252T>A, NM_015186.4:c.5252T>G, NM_015186.3:c.5252T>A, NM_015186.3:c.5252T>G, NM_033305.3:c.5252T>A, NM_033305.3:c.5252T>G, NM_033305.2:c.5252T>A, NM_033305.2:c.5252T>G, NM_001018038.3:c.5252T>A, NM_001018038.3:c.5252T>G, NM_001018038.2:c.5252T>A, NM_001018038.2:c.5252T>G, NM_001018037.2:c.5135T>A, NM_001018037.2:c.5135T>G, NM_001018037.1:c.5135T>A, NM_001018037.1:c.5135T>G, NP_056001.1:p.Phe1751Tyr, NP_056001.1:p.Phe1751Cys, NP_150648.2:p.Phe1751Tyr, NP_150648.2:p.Phe1751Cys, NP_001018048.1:p.Phe1751Tyr, NP_001018048.1:p.Phe1751Cys, NP_001018047.1:p.Phe1712Tyr, NP_001018047.1:p.Phe1712Cys

Select item 14899058524.

rs1489905852 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 9:77227410 (GRCh38)
9:79842326 (GRCh37)
Canonical SPDI:: NC_000009.12:77227409:A:G,NC_000009.12:77227409:A:T
Gene:: VPS13A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.77227410A>G, NC_000009.12:g.77227410A>T, NC_000009.11:g.79842326A>G, NC_000009.11:g.79842326A>T, NG_008931.1:g.54966A>G, NG_008931.1:g.54966A>T, NM_015186.4:c.1377A>G, NM_015186.4:c.1377A>T, NM_015186.3:c.1377A>G, NM_015186.3:c.1377A>T, NM_033305.3:c.1377A>G, NM_033305.3:c.1377A>T, NM_033305.2:c.1377A>G, NM_033305.2:c.1377A>T, NM_001018038.3:c.1377A>G, NM_001018038.3:c.1377A>T, NM_001018038.2:c.1377A>G, NM_001018038.2:c.1377A>T, NM_001018037.2:c.1377A>G, NM_001018037.2:c.1377A>T, NM_001018037.1:c.1377A>G, NM_001018037.1:c.1377A>T

Select item 14897104955.

rs1489710495 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:77405939 (GRCh38)
9:80020855 (GRCh37)
Canonical SPDI:: NC_000009.12:77405938:C:G,NC_000009.12:77405938:C:T
Gene:: VPS13A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.77405939C>G, NC_000009.12:g.77405939C>T, NC_000009.11:g.80020855C>G, NC_000009.11:g.80020855C>T, NG_008931.1:g.233495C>G, NG_008931.1:g.233495C>T, NM_033305.3:c.9351C>G, NM_033305.3:c.9351C>T, NM_033305.2:c.9351C>G, NM_033305.2:c.9351C>T, NM_001018037.2:c.9234C>G, NM_001018037.2:c.9234C>T, NM_001018037.1:c.9234C>G, NM_001018037.1:c.9234C>T

Select item 14894366236.

rs1489436623 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 9:77282123 (GRCh38)
9:79897039 (GRCh37)
Canonical SPDI:: NC_000009.12:77282122:A:G,NC_000009.12:77282122:A:T
Gene:: VPS13A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.77282123A>G, NC_000009.12:g.77282123A>T, NC_000009.11:g.79897039A>G, NC_000009.11:g.79897039A>T, NG_008931.1:g.109679A>G, NG_008931.1:g.109679A>T, NM_015186.4:c.2967A>G, NM_015186.4:c.2967A>T, NM_015186.3:c.2967A>G, NM_015186.3:c.2967A>T, NM_033305.3:c.2967A>G, NM_033305.3:c.2967A>T, NM_033305.2:c.2967A>G, NM_033305.2:c.2967A>T, NM_001018038.3:c.2967A>G, NM_001018038.3:c.2967A>T, NM_001018038.2:c.2967A>G, NM_001018038.2:c.2967A>T, NM_001018037.2:c.2967A>G, NM_001018037.2:c.2967A>T, NM_001018037.1:c.2967A>G, NM_001018037.1:c.2967A>T

Select item 14892996097.

rs1489299609 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:77213311 (GRCh38)
9:79828227 (GRCh37)
Canonical SPDI:: NC_000009.12:77213310:C:A,NC_000009.12:77213310:C:T
Gene:: VPS13A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
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_000009.12:g.77213311C>A, NC_000009.12:g.77213311C>T, NC_000009.11:g.79828227C>A, NC_000009.11:g.79828227C>T, NG_008931.1:g.40867C>A, NG_008931.1:g.40867C>T, NM_015186.4:c.693C>A, NM_015186.4:c.693C>T, NM_015186.3:c.693C>A, NM_015186.3:c.693C>T, NM_033305.3:c.693C>A, NM_033305.3:c.693C>T, NM_033305.2:c.693C>A, NM_033305.2:c.693C>T, NM_001018038.3:c.693C>A, NM_001018038.3:c.693C>T, NM_001018038.2:c.693C>A, NM_001018038.2:c.693C>T, NM_001018037.2:c.693C>A, NM_001018037.2:c.693C>T, NM_001018037.1:c.693C>A, NM_001018037.1:c.693C>T

Select item 14892348538.

rs1489234853 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:77314086 (GRCh38)
9:79929002 (GRCh37)
Canonical SPDI:: NC_000009.12:77314085:C:T
Gene:: VPS13A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.77314086C>T, NC_000009.11:g.79929002C>T, NG_008931.1:g.141642C>T, NM_015186.4:c.4209C>T, NM_015186.3:c.4209C>T, NM_033305.3:c.4209C>T, NM_033305.2:c.4209C>T, NM_001018038.3:c.4209C>T, NM_001018038.2:c.4209C>T, NM_001018037.2:c.4092C>T, NM_001018037.1:c.4092C>T

Select item 14890113429.

rs1489011342 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 9:77317693 (GRCh38)
9:79932609 (GRCh37)
Canonical SPDI:: NC_000009.12:77317692:C:A,NC_000009.12:77317692:C:G
Gene:: VPS13A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.77317693C>A, NC_000009.12:g.77317693C>G, NC_000009.11:g.79932609C>A, NC_000009.11:g.79932609C>G, NG_008931.1:g.145249C>A, NG_008931.1:g.145249C>G, NM_015186.4:c.4951C>A, NM_015186.4:c.4951C>G, NM_015186.3:c.4951C>A, NM_015186.3:c.4951C>G, NM_033305.3:c.4951C>A, NM_033305.3:c.4951C>G, NM_033305.2:c.4951C>A, NM_033305.2:c.4951C>G, NM_001018038.3:c.4951C>A, NM_001018038.3:c.4951C>G, NM_001018038.2:c.4951C>A, NM_001018038.2:c.4951C>G, NM_001018037.2:c.4834C>A, NM_001018037.2:c.4834C>G, NM_001018037.1:c.4834C>A, NM_001018037.1:c.4834C>G, NP_056001.1:p.Leu1651Ile, NP_056001.1:p.Leu1651Val, NP_150648.2:p.Leu1651Ile, NP_150648.2:p.Leu1651Val, NP_001018048.1:p.Leu1651Ile, NP_001018048.1:p.Leu1651Val, NP_001018047.1:p.Leu1612Ile, NP_001018047.1:p.Leu1612Val

Select item 148881491910.

rs1488814919 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 9:77260135 (GRCh38)
9:79875051 (GRCh37)
Canonical SPDI:: NC_000009.12:77260134:AAAAAA:AAAAA
Gene:: VPS13A (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.77260140del, NC_000009.11:g.79875056del, NG_008931.1:g.87696del, NM_015186.4:c.2343del, NM_015186.3:c.2343del, NM_033305.3:c.2343del, NM_033305.2:c.2343del, NM_001018038.3:c.2343del, NM_001018038.2:c.2343del, NM_001018037.2:c.2343del, NM_001018037.1:c.2343del, NP_056001.1:p.Lys781fs, NP_150648.2:p.Lys781fs, NP_001018048.1:p.Lys781fs, NP_001018047.1:p.Lys781fs

Select item 148873405011.

rs1488734050 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:77220376 (GRCh38)
9:79835292 (GRCh37)
Canonical SPDI:: NC_000009.12:77220375:A:G
Gene:: VPS13A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.77220376A>G, NC_000009.11:g.79835292A>G, NG_008931.1:g.47932A>G, NM_015186.4:c.982A>G, NM_015186.3:c.982A>G, NM_033305.3:c.982A>G, NM_033305.2:c.982A>G, NM_001018038.3:c.982A>G, NM_001018038.2:c.982A>G, NM_001018037.2:c.982A>G, NM_001018037.1:c.982A>G, NP_056001.1:p.Arg328Gly, NP_150648.2:p.Arg328Gly, NP_001018048.1:p.Arg328Gly, NP_001018047.1:p.Arg328Gly

Select item 148864144412.

rs1488641444 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:77339719 (GRCh38)
9:79954635 (GRCh37)
Canonical SPDI:: NC_000009.12:77339718:A:C
Gene:: VPS13A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.77339719A>C, NC_000009.11:g.79954635A>C, NG_008931.1:g.167275A>C, NM_015186.4:c.6582A>C, NM_015186.3:c.6582A>C, NM_033305.3:c.6582A>C, NM_033305.2:c.6582A>C, NM_001018038.3:c.6582A>C, NM_001018038.2:c.6582A>C, NM_001018037.2:c.6465A>C, NM_001018037.1:c.6465A>C, NP_056001.1:p.Leu2194Phe, NP_150648.2:p.Leu2194Phe, NP_001018048.1:p.Leu2194Phe, NP_001018047.1:p.Leu2155Phe

Select item 148826738713.

rs1488267387 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:77293392 (GRCh38)
9:79908308 (GRCh37)
Canonical SPDI:: NC_000009.12:77293391:A:G
Gene:: VPS13A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.77293392A>G, NC_000009.11:g.79908308A>G, NG_008931.1:g.120948A>G, NM_015186.4:c.3391A>G, NM_015186.3:c.3391A>G, NM_033305.3:c.3391A>G, NM_033305.2:c.3391A>G, NM_001018038.3:c.3391A>G, NM_001018038.2:c.3391A>G, NM_001018037.2:c.3274A>G, NM_001018037.1:c.3274A>G, NP_056001.1:p.Met1131Val, NP_150648.2:p.Met1131Val, NP_001018048.1:p.Met1131Val, NP_001018047.1:p.Met1092Val

Select item 148804820914.

rs1488048209 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:77339800 (GRCh38)
9:79954716 (GRCh37)
Canonical SPDI:: NC_000009.12:77339799:T:C
Gene:: VPS13A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.77339800T>C, NC_000009.11:g.79954716T>C, NG_008931.1:g.167356T>C, NM_015186.4:c.6663T>C, NM_015186.3:c.6663T>C, NM_033305.3:c.6663T>C, NM_033305.2:c.6663T>C, NM_001018038.3:c.6663T>C, NM_001018038.2:c.6663T>C, NM_001018037.2:c.6546T>C, NM_001018037.1:c.6546T>C

Select item 148800969315.

rs1488009693 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:77316364 (GRCh38)
9:79931280 (GRCh37)
Canonical SPDI:: NC_000009.12:77316363:C:T
Gene:: VPS13A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.77316364C>T, NC_000009.11:g.79931280C>T, NG_008931.1:g.143920C>T, NM_015186.4:c.4821C>T, NM_015186.3:c.4821C>T, NM_033305.3:c.4821C>T, NM_033305.2:c.4821C>T, NM_001018038.3:c.4821C>T, NM_001018038.2:c.4821C>T, NM_001018037.2:c.4704C>T, NM_001018037.1:c.4704C>T

Select item 148750207616.

rs1487502076 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:77314644 (GRCh38)
9:79929560 (GRCh37)
Canonical SPDI:: NC_000009.12:77314643:T:A
Gene:: VPS13A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.77314644T>A, NC_000009.11:g.79929560T>A, NG_008931.1:g.142200T>A, NM_015186.4:c.4392T>A, NM_015186.3:c.4392T>A, NM_033305.3:c.4392T>A, NM_033305.2:c.4392T>A, NM_001018038.3:c.4392T>A, NM_001018038.2:c.4392T>A, NM_001018037.2:c.4275T>A, NM_001018037.1:c.4275T>A, NP_056001.1:p.His1464Gln, NP_150648.2:p.His1464Gln, NP_001018048.1:p.His1464Gln, NP_001018047.1:p.His1425Gln

Select item 148726432417.

rs1487264324 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:77318438 (GRCh38)
9:79933354 (GRCh37)
Canonical SPDI:: NC_000009.12:77318437:G:A,NC_000009.12:77318437:G:C
Gene:: VPS13A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.77318438G>A, NC_000009.12:g.77318438G>C, NC_000009.11:g.79933354G>A, NC_000009.11:g.79933354G>C, NG_008931.1:g.145994G>A, NG_008931.1:g.145994G>C, NM_015186.4:c.5160G>A, NM_015186.4:c.5160G>C, NM_015186.3:c.5160G>A, NM_015186.3:c.5160G>C, NM_033305.3:c.5160G>A, NM_033305.3:c.5160G>C, NM_033305.2:c.5160G>A, NM_033305.2:c.5160G>C, NM_001018038.3:c.5160G>A, NM_001018038.3:c.5160G>C, NM_001018038.2:c.5160G>A, NM_001018038.2:c.5160G>C, NM_001018037.2:c.5043G>A, NM_001018037.2:c.5043G>C, NM_001018037.1:c.5043G>A, NM_001018037.1:c.5043G>C, NP_056001.1:p.Glu1720Asp, NP_150648.2:p.Glu1720Asp, NP_001018048.1:p.Glu1720Asp, NP_001018047.1:p.Glu1681Asp

Select item 148714791418.

rs1487147914 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:77370427 (GRCh38)
9:79985343 (GRCh37)
Canonical SPDI:: NC_000009.12:77370426:G:C
Gene:: VPS13A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.77370427G>C, NC_000009.11:g.79985343G>C, NG_008931.1:g.197983G>C, NM_015186.4:c.8756G>C, NM_015186.3:c.8756G>C, NM_033305.3:c.8756G>C, NM_033305.2:c.8756G>C, NM_001018038.3:c.8756G>C, NM_001018038.2:c.8756G>C, NM_001018037.2:c.8639G>C, NM_001018037.1:c.8639G>C, NP_056001.1:p.Gly2919Ala, NP_150648.2:p.Gly2919Ala, NP_001018048.1:p.Gly2919Ala, NP_001018047.1:p.Gly2880Ala

Select item 148689893619.

rs1486898936 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:77344258 (GRCh38)
9:79959174 (GRCh37)
Canonical SPDI:: NC_000009.12:77344257:A:G
Gene:: VPS13A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000009.12:g.77344258A>G, NC_000009.11:g.79959174A>G, NG_008931.1:g.171814A>G, NM_015186.4:c.7132A>G, NM_015186.3:c.7132A>G, NM_033305.3:c.7132A>G, NM_033305.2:c.7132A>G, NM_001018038.3:c.7132A>G, NM_001018038.2:c.7132A>G, NM_001018037.2:c.7015A>G, NM_001018037.1:c.7015A>G, NP_056001.1:p.Ile2378Val, NP_150648.2:p.Ile2378Val, NP_001018048.1:p.Ile2378Val, NP_001018047.1:p.Ile2339Val

Select item 148685964720.

rs1486859647 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:77353554 (GRCh38)
9:79968470 (GRCh37)
Canonical SPDI:: NC_000009.12:77353553:A:T
Gene:: VPS13A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.77353554A>T, NC_000009.11:g.79968470A>T, NG_008931.1:g.181110A>T, NM_015186.4:c.7565A>T, NM_015186.3:c.7565A>T, NM_033305.3:c.7565A>T, NM_033305.2:c.7565A>T, NM_001018038.3:c.7565A>T, NM_001018038.2:c.7565A>T, NM_001018037.2:c.7448A>T, NM_001018037.1:c.7448A>T, NP_056001.1:p.Gln2522Leu, NP_150648.2:p.Gln2522Leu, NP_001018048.1:p.Gln2522Leu, NP_001018047.1:p.Gln2483Leu

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