SNP Links for Protein (Select 289547669) - SNP

Links from Protein

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Select item 14886357811.

rs1488635781 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:590357 (GRCh38)
16:640357 (GRCh37)
Canonical SPDI:: NC_000016.10:590356:C:T
Gene:: RAB40C (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_000016.10:g.590357C>T, NC_000016.9:g.640357C>T, NM_021168.5:c.66C>T, NM_021168.4:c.66C>T, NM_001172663.2:c.66C>T, NM_001172663.1:c.66C>T, NM_001172664.2:c.66C>T, NM_001172664.1:c.66C>T, NM_001172665.2:c.66C>T, NM_001172665.1:c.66C>T, NM_001172666.2:c.66C>T, NM_001172666.1:c.66C>T

Select item 14880025342.

rs1488002534 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:627474 (GRCh38)
16:677474 (GRCh37)
Canonical SPDI:: NC_000016.10:627473:C:T
Gene:: RAB40C (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=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.627474C>T, NC_000016.9:g.677474C>T, NM_021168.5:c.698C>T, NM_021168.4:c.698C>T, NM_001172663.2:c.698C>T, NM_001172663.1:c.698C>T, NM_001172664.2:c.698C>T, NM_001172664.1:c.698C>T, NM_001172665.2:c.698C>T, NM_001172665.1:c.698C>T, NM_001172666.2:c.641C>T, NM_001172666.1:c.641C>T, NP_066991.3:p.Ala233Val, NP_001166134.1:p.Ala233Val, NP_001166135.1:p.Ala233Val, NP_001166136.1:p.Ala233Val, NP_001166137.1:p.Ala214Val

Select item 14869903883.

rs1486990388 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:626070 (GRCh38)
16:676070 (GRCh37)
Canonical SPDI:: NC_000016.10:626069:C:T
Gene:: RAB40C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.626070C>T, NC_000016.9:g.676070C>T, NM_021168.5:c.514C>T, NM_021168.4:c.514C>T, NM_001172663.2:c.514C>T, NM_001172663.1:c.514C>T, NM_001172664.2:c.514C>T, NM_001172664.1:c.514C>T, NM_001172665.2:c.514C>T, NM_001172665.1:c.514C>T, NM_001172666.2:c.457C>T, NM_001172666.1:c.457C>T, NP_066991.3:p.Arg172Cys, NP_001166134.1:p.Arg172Cys, NP_001166135.1:p.Arg172Cys, NP_001166136.1:p.Arg172Cys, NP_001166137.1:p.Arg153Cys

Select item 14856136184.

rs1485613618 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:627385 (GRCh38)
16:677385 (GRCh37)
Canonical SPDI:: NC_000016.10:627384:C:T
Gene:: RAB40C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.627385C>T, NC_000016.9:g.677385C>T, NM_021168.5:c.609C>T, NM_021168.4:c.609C>T, NM_001172663.2:c.609C>T, NM_001172663.1:c.609C>T, NM_001172664.2:c.609C>T, NM_001172664.1:c.609C>T, NM_001172665.2:c.609C>T, NM_001172665.1:c.609C>T, NM_001172666.2:c.552C>T, NM_001172666.1:c.552C>T

Select item 14825983195.

rs1482598319 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:590423 (GRCh38)
16:640423 (GRCh37)
Canonical SPDI:: NC_000016.10:590422:C:G,NC_000016.10:590422:C:T
Gene:: RAB40C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
HGVS:: NC_000016.10:g.590423C>G, NC_000016.10:g.590423C>T, NC_000016.9:g.640423C>G, NC_000016.9:g.640423C>T, NM_021168.5:c.132C>G, NM_021168.5:c.132C>T, NM_021168.4:c.132C>G, NM_021168.4:c.132C>T, NM_001172663.2:c.132C>G, NM_001172663.2:c.132C>T, NM_001172663.1:c.132C>G, NM_001172663.1:c.132C>T, NM_001172664.2:c.132C>G, NM_001172664.2:c.132C>T, NM_001172664.1:c.132C>G, NM_001172664.1:c.132C>T, NM_001172665.2:c.132C>G, NM_001172665.2:c.132C>T, NM_001172665.1:c.132C>G, NM_001172665.1:c.132C>T, NM_001172666.2:c.132C>G, NM_001172666.2:c.132C>T, NM_001172666.1:c.132C>G, NM_001172666.1:c.132C>T

Select item 14818150246.

rs1481815024 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:627382 (GRCh38)
16:677382 (GRCh37)
Canonical SPDI:: NC_000016.10:627381:C:A
Gene:: RAB40C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.627382C>A, NC_000016.9:g.677382C>A, NM_021168.5:c.606C>A, NM_021168.4:c.606C>A, NM_001172663.2:c.606C>A, NM_001172663.1:c.606C>A, NM_001172664.2:c.606C>A, NM_001172664.1:c.606C>A, NM_001172665.2:c.606C>A, NM_001172665.1:c.606C>A, NM_001172666.2:c.549C>A, NM_001172666.1:c.549C>A

Select item 14759522157.

rs1475952215 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:625972 (GRCh38)
16:675972 (GRCh37)
Canonical SPDI:: NC_000016.10:625971:A:G
Gene:: RAB40C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.625972A>G, NC_000016.9:g.675972A>G, NM_021168.5:c.416A>G, NM_021168.4:c.416A>G, NM_001172663.2:c.416A>G, NM_001172663.1:c.416A>G, NM_001172664.2:c.416A>G, NM_001172664.1:c.416A>G, NM_001172665.2:c.416A>G, NM_001172665.1:c.416A>G, NM_001172666.2:c.359A>G, NM_001172666.1:c.359A>G, NP_066991.3:p.Glu139Gly, NP_001166134.1:p.Glu139Gly, NP_001166135.1:p.Glu139Gly, NP_001166136.1:p.Glu139Gly, NP_001166137.1:p.Glu120Gly

Select item 14707571718.

rs1470757171 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:627408 (GRCh38)
16:677408 (GRCh37)
Canonical SPDI:: NC_000016.10:627407:A:C
Gene:: RAB40C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.627408A>C, NC_000016.9:g.677408A>C, NM_021168.5:c.632A>C, NM_021168.4:c.632A>C, NM_001172663.2:c.632A>C, NM_001172663.1:c.632A>C, NM_001172664.2:c.632A>C, NM_001172664.1:c.632A>C, NM_001172665.2:c.632A>C, NM_001172665.1:c.632A>C, NM_001172666.2:c.575A>C, NM_001172666.1:c.575A>C, NP_066991.3:p.Lys211Thr, NP_001166134.1:p.Lys211Thr, NP_001166135.1:p.Lys211Thr, NP_001166136.1:p.Lys211Thr, NP_001166137.1:p.Lys192Thr

Select item 14670357149.

rs1467035714 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:627600 (GRCh38)
16:677600 (GRCh37)
Canonical SPDI:: NC_000016.10:627599:G:A
Gene:: RAB40C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000016.10:g.627600G>A, NC_000016.9:g.677600G>A, NM_021168.5:c.824G>A, NM_021168.4:c.824G>A, NM_001172663.2:c.824G>A, NM_001172663.1:c.824G>A, NM_001172664.2:c.824G>A, NM_001172664.1:c.824G>A, NM_001172665.2:c.824G>A, NM_001172665.1:c.824G>A, NM_001172666.2:c.767G>A, NM_001172666.1:c.767G>A, NP_066991.3:p.Arg275Gln, NP_001166134.1:p.Arg275Gln, NP_001166135.1:p.Arg275Gln, NP_001166136.1:p.Arg275Gln, NP_001166137.1:p.Arg256Gln

Select item 146162285110.

rs1461622851 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:590391 (GRCh38)
16:640391 (GRCh37)
Canonical SPDI:: NC_000016.10:590390:C:G
Gene:: RAB40C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.590391C>G, NC_000016.9:g.640391C>G, NM_021168.5:c.100C>G, NM_021168.4:c.100C>G, NM_001172663.2:c.100C>G, NM_001172663.1:c.100C>G, NM_001172664.2:c.100C>G, NM_001172664.1:c.100C>G, NM_001172665.2:c.100C>G, NM_001172665.1:c.100C>G, NM_001172666.2:c.100C>G, NM_001172666.1:c.100C>G, NP_066991.3:p.Leu34Val, NP_001166134.1:p.Leu34Val, NP_001166135.1:p.Leu34Val, NP_001166136.1:p.Leu34Val, NP_001166137.1:p.Leu34Val

Select item 145233249211.

rs1452332492 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:627545 (GRCh38)
16:677545 (GRCh37)
Canonical SPDI:: NC_000016.10:627544:C:T
Gene:: RAB40C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.627545C>T, NC_000016.9:g.677545C>T, NM_021168.5:c.769C>T, NM_021168.4:c.769C>T, NM_001172663.2:c.769C>T, NM_001172663.1:c.769C>T, NM_001172664.2:c.769C>T, NM_001172664.1:c.769C>T, NM_001172665.2:c.769C>T, NM_001172665.1:c.769C>T, NM_001172666.2:c.712C>T, NM_001172666.1:c.712C>T, NP_066991.3:p.Leu257Phe, NP_001166134.1:p.Leu257Phe, NP_001166135.1:p.Leu257Phe, NP_001166136.1:p.Leu257Phe, NP_001166137.1:p.Leu238Phe

Select item 144706332912.

rs1447063329 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:617234 (GRCh38)
16:667234 (GRCh37)
Canonical SPDI:: NC_000016.10:617233:C:T
Gene:: RAB40C (Varview), LOC124903618 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.617234C>T, NC_000016.9:g.667234C>T, NM_021168.5:c.169C>T, NM_021168.4:c.169C>T, NM_001172663.2:c.169C>T, NM_001172663.1:c.169C>T, NM_001172664.2:c.169C>T, NM_001172664.1:c.169C>T, NM_001172665.2:c.169C>T, NM_001172665.1:c.169C>T, NM_001172666.2:c.169C>T, NM_001172666.1:c.169C>T

Select item 144103652913.

rs1441036529 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:590375 (GRCh38)
16:640375 (GRCh37)
Canonical SPDI:: NC_000016.10:590374:C:G,NC_000016.10:590374:C:T
Gene:: RAB40C (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.590375C>G, NC_000016.10:g.590375C>T, NC_000016.9:g.640375C>G, NC_000016.9:g.640375C>T, NM_021168.5:c.84C>G, NM_021168.5:c.84C>T, NM_021168.4:c.84C>G, NM_021168.4:c.84C>T, NM_001172663.2:c.84C>G, NM_001172663.2:c.84C>T, NM_001172663.1:c.84C>G, NM_001172663.1:c.84C>T, NM_001172664.2:c.84C>G, NM_001172664.2:c.84C>T, NM_001172664.1:c.84C>G, NM_001172664.1:c.84C>T, NM_001172665.2:c.84C>G, NM_001172665.2:c.84C>T, NM_001172665.1:c.84C>G, NM_001172665.1:c.84C>T, NM_001172666.2:c.84C>G, NM_001172666.2:c.84C>T, NM_001172666.1:c.84C>G, NM_001172666.1:c.84C>T

Select item 143578619314.

rs1435786193 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:626078 (GRCh38)
16:676078 (GRCh37)
Canonical SPDI:: NC_000016.10:626077:G:T
Gene:: RAB40C (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000016.10:g.626078G>T, NC_000016.9:g.676078G>T, NM_021168.5:c.522G>T, NM_021168.4:c.522G>T, NM_001172663.2:c.522G>T, NM_001172663.1:c.522G>T, NM_001172664.2:c.522G>T, NM_001172664.1:c.522G>T, NM_001172665.2:c.522G>T, NM_001172665.1:c.522G>T, NM_001172666.2:c.465G>T, NM_001172666.1:c.465G>T

Select item 143323098215.

rs1433230982 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:590302 (GRCh38)
16:640302 (GRCh37)
Canonical SPDI:: NC_000016.10:590301:A:G
Gene:: RAB40C (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=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.590302A>G, NC_000016.9:g.640302A>G, NM_021168.5:c.11A>G, NM_021168.4:c.11A>G, NM_001172663.2:c.11A>G, NM_001172663.1:c.11A>G, NM_001172664.2:c.11A>G, NM_001172664.1:c.11A>G, NM_001172665.2:c.11A>G, NM_001172665.1:c.11A>G, NM_001172666.2:c.11A>G, NM_001172666.1:c.11A>G, NP_066991.3:p.Gln4Arg, NP_001166134.1:p.Gln4Arg, NP_001166135.1:p.Gln4Arg, NP_001166136.1:p.Gln4Arg, NP_001166137.1:p.Gln4Arg

Select item 143206528516.

rs1432065285 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:618248 (GRCh38)
16:668248 (GRCh37)
Canonical SPDI:: NC_000016.10:618247:C:T
Gene:: RAB40C (Varview), LOC124903618 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.618248C>T, NC_000016.9:g.668248C>T, NM_021168.5:c.252C>T, NM_021168.4:c.252C>T, NM_001172663.2:c.252C>T, NM_001172663.1:c.252C>T, NM_001172664.2:c.252C>T, NM_001172664.1:c.252C>T, NM_001172665.2:c.252C>T, NM_001172665.1:c.252C>T, NM_001172666.2:c.252C>T, NM_001172666.1:c.252C>T

Select item 143086004217.

rs1430860042 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGCGGC [Show Flanks]
Chromosome:: 16:627520 (GRCh38)
16:677521 (GRCh37)
Canonical SPDI:: NC_000016.10:627520:GGCGGCGGC:GGCGGCGGCGGCGGC
Gene:: RAB40C (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGCGGCGGCGGCGGC=0.000043/1 (ALFA)
GGCGGC=0.000004/1 (GnomAD_exomes)
GGCGGC=0.000004/1 (TOPMED)
GGCGGC=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.627521GGC[5], NC_000016.9:g.677521GGC[5], NM_021168.5:c.745GGC[5], NM_021168.4:c.745GGC[5], NM_001172663.2:c.745GGC[5], NM_001172663.1:c.745GGC[5], NM_001172664.2:c.745GGC[5], NM_001172664.1:c.745GGC[5], NM_001172665.2:c.745GGC[5], NM_001172665.1:c.745GGC[5], NM_001172666.2:c.688GGC[5], NM_001172666.1:c.688GGC[5], NP_066991.3:p.Gly250_Gly251dup, NP_001166134.1:p.Gly250_Gly251dup, NP_001166135.1:p.Gly250_Gly251dup, NP_001166136.1:p.Gly250_Gly251dup, NP_001166137.1:p.Gly231_Gly232dup

Select item 143081494418.

rs1430814944 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:625468 (GRCh38)
16:675468 (GRCh37)
Canonical SPDI:: NC_000016.10:625467:T:G
Gene:: RAB40C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.625468T>G, NC_000016.9:g.675468T>G, NM_021168.5:c.301T>G, NM_021168.4:c.301T>G, NM_001172663.2:c.301T>G, NM_001172663.1:c.301T>G, NM_001172664.2:c.301T>G, NM_001172664.1:c.301T>G, NM_001172665.2:c.301T>G, NM_001172665.1:c.301T>G, NM_001172666.2:c.301T>G, NM_001172666.1:c.301T>G, NP_066991.3:p.Ser101Ala, NP_001166134.1:p.Ser101Ala, NP_001166135.1:p.Ser101Ala, NP_001166136.1:p.Ser101Ala, NP_001166137.1:p.Ser101Ala

Select item 142240555119.

rs1422405551 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:590385 (GRCh38)
16:640385 (GRCh37)
Canonical SPDI:: NC_000016.10:590384:G:A,NC_000016.10:590384:G:C
Gene:: RAB40C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.590385G>A, NC_000016.10:g.590385G>C, NC_000016.9:g.640385G>A, NC_000016.9:g.640385G>C, NM_021168.5:c.94G>A, NM_021168.5:c.94G>C, NM_021168.4:c.94G>A, NM_021168.4:c.94G>C, NM_001172663.2:c.94G>A, NM_001172663.2:c.94G>C, NM_001172663.1:c.94G>A, NM_001172663.1:c.94G>C, NM_001172664.2:c.94G>A, NM_001172664.2:c.94G>C, NM_001172664.1:c.94G>A, NM_001172664.1:c.94G>C, NM_001172665.2:c.94G>A, NM_001172665.2:c.94G>C, NM_001172665.1:c.94G>A, NM_001172665.1:c.94G>C, NM_001172666.2:c.94G>A, NM_001172666.2:c.94G>C, NM_001172666.1:c.94G>A, NM_001172666.1:c.94G>C, NP_066991.3:p.Glu32Lys, NP_066991.3:p.Glu32Gln, NP_001166134.1:p.Glu32Lys, NP_001166134.1:p.Glu32Gln, NP_001166135.1:p.Glu32Lys, NP_001166135.1:p.Glu32Gln, NP_001166136.1:p.Glu32Lys, NP_001166136.1:p.Glu32Gln, NP_001166137.1:p.Glu32Lys, NP_001166137.1:p.Glu32Gln

Select item 142223427720.

rs1422234277 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:625979 (GRCh38)
16:675979 (GRCh37)
Canonical SPDI:: NC_000016.10:625978:C:A,NC_000016.10:625978:C:T
Gene:: RAB40C (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.625979C>A, NC_000016.10:g.625979C>T, NC_000016.9:g.675979C>A, NC_000016.9:g.675979C>T, NM_021168.5:c.423C>A, NM_021168.5:c.423C>T, NM_021168.4:c.423C>A, NM_021168.4:c.423C>T, NM_001172663.2:c.423C>A, NM_001172663.2:c.423C>T, NM_001172663.1:c.423C>A, NM_001172663.1:c.423C>T, NM_001172664.2:c.423C>A, NM_001172664.2:c.423C>T, NM_001172664.1:c.423C>A, NM_001172664.1:c.423C>T, NM_001172665.2:c.423C>A, NM_001172665.2:c.423C>T, NM_001172665.1:c.423C>A, NM_001172665.1:c.423C>T, NM_001172666.2:c.366C>A, NM_001172666.2:c.366C>T, NM_001172666.1:c.366C>A, NM_001172666.1:c.366C>T

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