SNP Links for Protein (Select 4502181) - SNP

Select item 14905470641.

rs1490547064 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:26862213 (GRCh38)
18:24442177 (GRCh37)
Canonical SPDI:: NC_000018.10:26862212:G:A
Gene:: AQP4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.26862213G>A, NC_000018.9:g.24442177G>A, NG_029560.1:g.8540C>T, NM_001650.7:c.416C>T, NM_001650.6:c.416C>T, NM_001650.5:c.416C>T, NM_001650.4:c.416C>T, NM_004028.5:c.350C>T, NM_004028.4:c.350C>T, NM_004028.3:c.350C>T, NM_001317384.3:c.416C>T, NM_001317384.2:c.416C>T, NM_001317384.1:c.416C>T, NM_001317387.3:c.416C>T, NM_001317387.2:c.416C>T, NM_001317387.1:c.416C>T, NM_001364289.2:c.350C>T, NM_001364289.1:c.350C>T, NM_001364287.1:c.350C>T, NM_001364286.1:c.350C>T, XM_011525942.4:c.395C>T, XM_011525942.3:c.395C>T, XM_011525942.2:c.395C>T, XM_011525942.1:c.395C>T, NP_001641.1:p.Pro139Leu, NP_004019.1:p.Pro117Leu, NP_001304313.1:p.Pro139Leu, NP_001304316.1:p.Pro139Leu, NP_001351218.1:p.Pro117Leu, NP_001351216.1:p.Pro117Leu, NP_001351215.1:p.Pro117Leu, XP_011524244.1:p.Pro132Leu

Select item 14828018552.

rs1482801855 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:26856311 (GRCh38)
18:24436275 (GRCh37)
Canonical SPDI:: NC_000018.10:26856310:T:C
Gene:: AQP4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.26856311T>C, NC_000018.9:g.24436275T>C, NG_029560.1:g.14442A>G, NM_001650.7:c.872A>G, NM_001650.6:c.872A>G, NM_001650.5:c.872A>G, NM_001650.4:c.872A>G, NM_004028.5:c.806A>G, NM_004028.4:c.806A>G, NM_004028.3:c.806A>G, NM_001317384.3:c.872A>G, NM_001317384.2:c.872A>G, NM_001317384.1:c.872A>G, NM_001317387.3:c.791A>G, NM_001317387.2:c.791A>G, NM_001317387.1:c.791A>G, NM_001364289.2:c.806A>G, NM_001364289.1:c.806A>G, NM_001364287.1:c.806A>G, NM_001364286.1:c.806A>G, XM_011525942.4:c.851A>G, XM_011525942.3:c.851A>G, XM_011525942.2:c.851A>G, XM_011525942.1:c.851A>G, NP_001641.1:p.Asp291Gly, NP_004019.1:p.Asp269Gly, NP_001304313.1:p.Asp291Gly, NP_001304316.1:p.Asp264Gly, NP_001351218.1:p.Asp269Gly, NP_001351216.1:p.Asp269Gly, NP_001351215.1:p.Asp269Gly, XP_011524244.1:p.Asp284Gly

Select item 14808937233.

rs1480893723 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAGCGGTAAGATTTCC>- [Show Flanks]
Chromosome:: 18:26861274 (GRCh38)
18:24441238 (GRCh37)
Canonical SPDI:: NC_000018.10:26861272:CCAGCGGTAAGATTTCC:C
Gene:: AQP4 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.26861274_26861289del, NC_000018.9:g.24441238_24441253del, NG_029560.1:g.9465_9480del, NM_001650.7:c.455_470del, NM_001650.6:c.455_470del, NM_001650.5:c.455_470del, NM_001650.4:c.455_470del, NM_004028.5:c.389_404del, NM_004028.4:c.389_404del, NM_004028.3:c.389_404del, NM_001317384.3:c.455_470del, NM_001317384.2:c.455_470del, NM_001317384.1:c.455_470del, NM_001317387.3:c.455_470del, NM_001317387.2:c.455_470del, NM_001317387.1:c.455_470del, NM_001364289.2:c.389_404del, NM_001364289.1:c.389_404del, NM_001364287.1:c.389_404del, NM_001364286.1:c.389_404del, XM_011525942.4:c.434_449del, XM_011525942.3:c.434_449del, XM_011525942.2:c.434_449del, XM_011525942.1:c.434_449del, NP_001641.1:p.Gly152fs, NP_004019.1:p.Gly130fs, NP_001304313.1:p.Gly152fs, NP_001304316.1:p.Gly152fs, NP_001351218.1:p.Gly130fs, NP_001351216.1:p.Gly130fs, NP_001351215.1:p.Gly130fs, XP_011524244.1:p.Gly145fs

Select item 14767586804.

rs1476758680 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:26862560 (GRCh38)
18:24442524 (GRCh37)
Canonical SPDI:: NC_000018.10:26862559:C:T
Gene:: AQP4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,initiator_codon_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.26862560C>T, NC_000018.9:g.24442524C>T, NG_029560.1:g.8193G>A, NM_001650.7:c.69G>A, NM_001650.6:c.69G>A, NM_001650.5:c.69G>A, NM_001650.4:c.69G>A, NM_004028.5:c.3G>A, NM_004028.4:c.3G>A, NM_004028.3:c.3G>A, NM_001317384.3:c.69G>A, NM_001317384.2:c.69G>A, NM_001317384.1:c.69G>A, NM_001317387.3:c.69G>A, NM_001317387.2:c.69G>A, NM_001317387.1:c.69G>A, NM_001364289.2:c.3G>A, NM_001364289.1:c.3G>A, NM_001364287.1:c.3G>A, NM_001364286.1:c.3G>A, XM_011525942.4:c.48G>A, XM_011525942.3:c.48G>A, XM_011525942.2:c.48G>A, XM_011525942.1:c.48G>A, NP_001641.1:p.Met23Ile, NP_004019.1:p.Met1Ile, NP_001304313.1:p.Met23Ile, NP_001304316.1:p.Met23Ile, NP_001351218.1:p.Met1Ile, NP_001351216.1:p.Met1Ile, NP_001351215.1:p.Met1Ile, XP_011524244.1:p.Met16Ile

Select item 14745086085.

rs1474508608 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:26865677 (GRCh38)
18:24445641 (GRCh37)
Canonical SPDI:: NC_000018.10:26865676:G:A
Gene:: AQP4 (Varview), AQP4-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant,5_prime_UTR_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_000018.10:g.26865677G>A, NC_000018.9:g.24445641G>A, NG_029560.1:g.5076C>T, NM_001650.7:c.13C>T, NM_001650.6:c.13C>T, NM_001650.5:c.13C>T, NM_001650.4:c.13C>T, NM_001317384.3:c.13C>T, NM_001317384.2:c.13C>T, NM_001317384.1:c.13C>T, NM_001317387.3:c.13C>T, NM_001317387.2:c.13C>T, NM_001317387.1:c.13C>T, NM_001364287.1:c.-54C>T, NM_001364286.1:c.-54C>T, XM_011525942.4:c.-2705C>T, NP_001641.1:p.Pro5Ser, NP_001304313.1:p.Pro5Ser, NP_001304316.1:p.Pro5Ser

Select item 14687680056.

rs1468768005 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 18:26856305 (GRCh38)
18:24436269 (GRCh37)
Canonical SPDI:: NC_000018.10:26856304:A:C
Gene:: AQP4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.26856305A>C, NC_000018.9:g.24436269A>C, NG_029560.1:g.14448T>G, NM_001650.7:c.878T>G, NM_001650.6:c.878T>G, NM_001650.5:c.878T>G, NM_001650.4:c.878T>G, NM_004028.5:c.812T>G, NM_004028.4:c.812T>G, NM_004028.3:c.812T>G, NM_001317384.3:c.878T>G, NM_001317384.2:c.878T>G, NM_001317384.1:c.878T>G, NM_001317387.3:c.797T>G, NM_001317387.2:c.797T>G, NM_001317387.1:c.797T>G, NM_001364289.2:c.812T>G, NM_001364289.1:c.812T>G, NM_001364287.1:c.812T>G, NM_001364286.1:c.812T>G, XM_011525942.4:c.857T>G, XM_011525942.3:c.857T>G, XM_011525942.2:c.857T>G, XM_011525942.1:c.857T>G, NP_001641.1:p.Ile293Ser, NP_004019.1:p.Ile271Ser, NP_001304313.1:p.Ile293Ser, NP_001304316.1:p.Ile266Ser, NP_001351218.1:p.Ile271Ser, NP_001351216.1:p.Ile271Ser, NP_001351215.1:p.Ile271Ser, XP_011524244.1:p.Ile286Ser

Select item 14672171947.

rs1467217194 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 18:26856285 (GRCh38)
18:24436249 (GRCh37)
Canonical SPDI:: NC_000018.10:26856284:G:T
Gene:: AQP4 (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)
T=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.26856285G>T, NC_000018.9:g.24436249G>T, NG_029560.1:g.14468C>A, NM_001650.7:c.898C>A, NM_001650.6:c.898C>A, NM_001650.5:c.898C>A, NM_001650.4:c.898C>A, NM_004028.5:c.832C>A, NM_004028.4:c.832C>A, NM_004028.3:c.832C>A, NM_001317384.3:c.898C>A, NM_001317384.2:c.898C>A, NM_001317384.1:c.898C>A, NM_001317387.3:c.817C>A, NM_001317387.2:c.817C>A, NM_001317387.1:c.817C>A, NM_001364289.2:c.832C>A, NM_001364289.1:c.832C>A, NM_001364287.1:c.832C>A, NM_001364286.1:c.832C>A, XM_011525942.4:c.877C>A, XM_011525942.3:c.877C>A, XM_011525942.2:c.877C>A, XM_011525942.1:c.877C>A, NP_001641.1:p.His300Asn, NP_004019.1:p.His278Asn, NP_001304313.1:p.His300Asn, NP_001304316.1:p.His273Asn, NP_001351218.1:p.His278Asn, NP_001351216.1:p.His278Asn, NP_001351215.1:p.His278Asn, XP_011524244.1:p.His293Asn

Select item 14616809368.

rs1461680936 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 18:26862372 (GRCh38)
18:24442336 (GRCh37)
Canonical SPDI:: NC_000018.10:26862371:T:G
Gene:: AQP4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.26862372T>G, NC_000018.9:g.24442336T>G, NG_029560.1:g.8381A>C, NM_001650.7:c.257A>C, NM_001650.6:c.257A>C, NM_001650.5:c.257A>C, NM_001650.4:c.257A>C, NM_004028.5:c.191A>C, NM_004028.4:c.191A>C, NM_004028.3:c.191A>C, NM_001317384.3:c.257A>C, NM_001317384.2:c.257A>C, NM_001317384.1:c.257A>C, NM_001317387.3:c.257A>C, NM_001317387.2:c.257A>C, NM_001317387.1:c.257A>C, NM_001364289.2:c.191A>C, NM_001364289.1:c.191A>C, NM_001364287.1:c.191A>C, NM_001364286.1:c.191A>C, XM_011525942.4:c.236A>C, XM_011525942.3:c.236A>C, XM_011525942.2:c.236A>C, XM_011525942.1:c.236A>C, NP_001641.1:p.Gln86Pro, NP_004019.1:p.Gln64Pro, NP_001304313.1:p.Gln86Pro, NP_001304316.1:p.Gln86Pro, NP_001351218.1:p.Gln64Pro, NP_001351216.1:p.Gln64Pro, NP_001351215.1:p.Gln64Pro, XP_011524244.1:p.Gln79Pro

Select item 14578516579.

rs1457851657 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:26860788 (GRCh38)
18:24440752 (GRCh37)
Canonical SPDI:: NC_000018.10:26860787:T:C
Gene:: AQP4 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.26860788T>C, NC_000018.9:g.24440752T>C, NG_029560.1:g.9965A>G, NM_001650.7:c.677A>G, NM_001650.6:c.677A>G, NM_001650.5:c.677A>G, NM_001650.4:c.677A>G, NM_004028.5:c.611A>G, NM_004028.4:c.611A>G, NM_004028.3:c.611A>G, NM_001317384.3:c.677A>G, NM_001317384.2:c.677A>G, NM_001317384.1:c.677A>G, NM_001364289.2:c.611A>G, NM_001364289.1:c.611A>G, NM_001364287.1:c.611A>G, NM_001364286.1:c.611A>G, XM_011525942.4:c.656A>G, XM_011525942.3:c.656A>G, XM_011525942.2:c.656A>G, XM_011525942.1:c.656A>G, NP_001641.1:p.Asn226Ser, NP_004019.1:p.Asn204Ser, NP_001304313.1:p.Asn226Ser, NP_001351218.1:p.Asn204Ser, NP_001351216.1:p.Asn204Ser, NP_001351215.1:p.Asn204Ser, XP_011524244.1:p.Asn219Ser

Select item 145638072310.

rs1456380723 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:26865670 (GRCh38)
18:24445634 (GRCh37)
Canonical SPDI:: NC_000018.10:26865669:G:C
Gene:: AQP4 (Varview), AQP4-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.26865670G>C, NC_000018.9:g.24445634G>C, NG_029560.1:g.5083C>G, NM_001650.7:c.20C>G, NM_001650.6:c.20C>G, NM_001650.5:c.20C>G, NM_001650.4:c.20C>G, NM_001317384.3:c.20C>G, NM_001317384.2:c.20C>G, NM_001317384.1:c.20C>G, NM_001317387.3:c.20C>G, NM_001317387.2:c.20C>G, NM_001317387.1:c.20C>G, NM_001364287.1:c.-47C>G, NM_001364286.1:c.-47C>G, XM_011525942.4:c.-2698C>G, NP_001641.1:p.Ala7Gly, NP_001304313.1:p.Ala7Gly, NP_001304316.1:p.Ala7Gly

Select item 145508768811.

rs1455087688 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:26862344 (GRCh38)
18:24442308 (GRCh37)
Canonical SPDI:: NC_000018.10:26862343:G:A
Gene:: AQP4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.26862344G>A, NC_000018.9:g.24442308G>A, NG_029560.1:g.8409C>T, NM_001650.7:c.285C>T, NM_001650.6:c.285C>T, NM_001650.5:c.285C>T, NM_001650.4:c.285C>T, NM_004028.5:c.219C>T, NM_004028.4:c.219C>T, NM_004028.3:c.219C>T, NM_001317384.3:c.285C>T, NM_001317384.2:c.285C>T, NM_001317384.1:c.285C>T, NM_001317387.3:c.285C>T, NM_001317387.2:c.285C>T, NM_001317387.1:c.285C>T, NM_001364289.2:c.219C>T, NM_001364289.1:c.219C>T, NM_001364287.1:c.219C>T, NM_001364286.1:c.219C>T, XM_011525942.4:c.264C>T, XM_011525942.3:c.264C>T, XM_011525942.2:c.264C>T, XM_011525942.1:c.264C>T

Select item 145452673312.

rs1454526733 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 18:26856423 (GRCh38)
18:24436387 (GRCh37)
Canonical SPDI:: NC_000018.10:26856422:G:T
Gene:: AQP4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.26856423G>T, NC_000018.9:g.24436387G>T, NG_029560.1:g.14330C>A, NM_001650.7:c.760C>A, NM_001650.6:c.760C>A, NM_001650.5:c.760C>A, NM_001650.4:c.760C>A, NM_004028.5:c.694C>A, NM_004028.4:c.694C>A, NM_004028.3:c.694C>A, NM_001317384.3:c.760C>A, NM_001317384.2:c.760C>A, NM_001317384.1:c.760C>A, NM_001317387.3:c.679C>A, NM_001317387.2:c.679C>A, NM_001317387.1:c.679C>A, NM_001364289.2:c.694C>A, NM_001364289.1:c.694C>A, NM_001364287.1:c.694C>A, NM_001364286.1:c.694C>A, XM_011525942.4:c.739C>A, XM_011525942.3:c.739C>A, XM_011525942.2:c.739C>A, XM_011525942.1:c.739C>A, NP_001641.1:p.Pro254Thr, NP_004019.1:p.Pro232Thr, NP_001304313.1:p.Pro254Thr, NP_001304316.1:p.Pro227Thr, NP_001351218.1:p.Pro232Thr, NP_001351216.1:p.Pro232Thr, NP_001351215.1:p.Pro232Thr, XP_011524244.1:p.Pro247Thr

Select item 144833209513.

rs1448332095 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:26856429 (GRCh38)
18:24436393 (GRCh37)
Canonical SPDI:: NC_000018.10:26856428:A:G
Gene:: AQP4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
G=0.000024/6 (GnomAD_exomes)
HGVS:: NC_000018.10:g.26856429A>G, NC_000018.9:g.24436393A>G, NG_029560.1:g.14324T>C, NM_001650.7:c.754T>C, NM_001650.6:c.754T>C, NM_001650.5:c.754T>C, NM_001650.4:c.754T>C, NM_004028.5:c.688T>C, NM_004028.4:c.688T>C, NM_004028.3:c.688T>C, NM_001317384.3:c.754T>C, NM_001317384.2:c.754T>C, NM_001317384.1:c.754T>C, NM_001317387.3:c.673T>C, NM_001317387.2:c.673T>C, NM_001317387.1:c.673T>C, NM_001364289.2:c.688T>C, NM_001364289.1:c.688T>C, NM_001364287.1:c.688T>C, NM_001364286.1:c.688T>C, XM_011525942.4:c.733T>C, XM_011525942.3:c.733T>C, XM_011525942.2:c.733T>C, XM_011525942.1:c.733T>C, NP_001641.1:p.Phe252Leu, NP_004019.1:p.Phe230Leu, NP_001304313.1:p.Phe252Leu, NP_001304316.1:p.Phe225Leu, NP_001351218.1:p.Phe230Leu, NP_001351216.1:p.Phe230Leu, NP_001351215.1:p.Phe230Leu, XP_011524244.1:p.Phe245Leu

Select item 144517774114.

rs1445177741 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 18:26862301 (GRCh38)
18:24442265 (GRCh37)
Canonical SPDI:: NC_000018.10:26862300:T:A
Gene:: AQP4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.26862301T>A, NC_000018.9:g.24442265T>A, NG_029560.1:g.8452A>T, NM_001650.7:c.328A>T, NM_001650.6:c.328A>T, NM_001650.5:c.328A>T, NM_001650.4:c.328A>T, NM_004028.5:c.262A>T, NM_004028.4:c.262A>T, NM_004028.3:c.262A>T, NM_001317384.3:c.328A>T, NM_001317384.2:c.328A>T, NM_001317384.1:c.328A>T, NM_001317387.3:c.328A>T, NM_001317387.2:c.328A>T, NM_001317387.1:c.328A>T, NM_001364289.2:c.262A>T, NM_001364289.1:c.262A>T, NM_001364287.1:c.262A>T, NM_001364286.1:c.262A>T, XM_011525942.4:c.307A>T, XM_011525942.3:c.307A>T, XM_011525942.2:c.307A>T, XM_011525942.1:c.307A>T, NP_001641.1:p.Ile110Phe, NP_004019.1:p.Ile88Phe, NP_001304313.1:p.Ile110Phe, NP_001304316.1:p.Ile110Phe, NP_001351218.1:p.Ile88Phe, NP_001351216.1:p.Ile88Phe, NP_001351215.1:p.Ile88Phe, XP_011524244.1:p.Ile103Phe

Select item 144033518715.

rs1440335187 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:26862563 (GRCh38)
18:24442527 (GRCh37)
Canonical SPDI:: NC_000018.10:26862562:G:C
Gene:: AQP4 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.26862563G>C, NC_000018.9:g.24442527G>C, NG_029560.1:g.8190C>G, NM_001650.7:c.66C>G, NM_001650.6:c.66C>G, NM_001650.5:c.66C>G, NM_001650.4:c.66C>G, NM_004028.5:c.-1C>G, NM_004028.4:c.-1C>G, NM_004028.3:c.-1C>G, NM_001317384.3:c.66C>G, NM_001317384.2:c.66C>G, NM_001317384.1:c.66C>G, NM_001317387.3:c.66C>G, NM_001317387.2:c.66C>G, NM_001317387.1:c.66C>G, NM_001364289.2:c.-1C>G, NM_001364289.1:c.-1C>G, NM_001364287.1:c.-1C>G, NM_001364286.1:c.-1C>G, XM_011525942.4:c.45C>G, XM_011525942.3:c.45C>G, XM_011525942.2:c.45C>G, XM_011525942.1:c.45C>G, NP_001641.1:p.Ile22Met, NP_001304313.1:p.Ile22Met, NP_001304316.1:p.Ile22Met, XP_011524244.1:p.Ile15Met

Select item 143647312116.

rs1436473121 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:26856464 (GRCh38)
18:24436428 (GRCh37)
Canonical SPDI:: NC_000018.10:26856463:C:T
Gene:: AQP4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.26856464C>T, NC_000018.9:g.24436428C>T, NG_029560.1:g.14289G>A, NM_001650.7:c.719G>A, NM_001650.6:c.719G>A, NM_001650.5:c.719G>A, NM_001650.4:c.719G>A, NM_004028.5:c.653G>A, NM_004028.4:c.653G>A, NM_004028.3:c.653G>A, NM_001317384.3:c.719G>A, NM_001317384.2:c.719G>A, NM_001317384.1:c.719G>A, NM_001317387.3:c.638G>A, NM_001317387.2:c.638G>A, NM_001317387.1:c.638G>A, NM_001364289.2:c.653G>A, NM_001364289.1:c.653G>A, NM_001364287.1:c.653G>A, NM_001364286.1:c.653G>A, XM_011525942.4:c.698G>A, XM_011525942.3:c.698G>A, XM_011525942.2:c.698G>A, XM_011525942.1:c.698G>A, NP_001641.1:p.Gly240Glu, NP_004019.1:p.Gly218Glu, NP_001304313.1:p.Gly240Glu, NP_001304316.1:p.Gly213Glu, NP_001351218.1:p.Gly218Glu, NP_001351216.1:p.Gly218Glu, NP_001351215.1:p.Gly218Glu, XP_011524244.1:p.Gly233Glu

Select item 143398233617.

rs1433982336 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:26860804 (GRCh38)
18:24440768 (GRCh37)
Canonical SPDI:: NC_000018.10:26860803:C:T
Gene:: AQP4 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.26860804C>T, NC_000018.9:g.24440768C>T, NG_029560.1:g.9949G>A, NM_001650.7:c.661G>A, NM_001650.6:c.661G>A, NM_001650.5:c.661G>A, NM_001650.4:c.661G>A, NM_004028.5:c.595G>A, NM_004028.4:c.595G>A, NM_004028.3:c.595G>A, NM_001317384.3:c.661G>A, NM_001317384.2:c.661G>A, NM_001317384.1:c.661G>A, NM_001364289.2:c.595G>A, NM_001364289.1:c.595G>A, NM_001364287.1:c.595G>A, NM_001364286.1:c.595G>A, XM_011525942.4:c.640G>A, XM_011525942.3:c.640G>A, XM_011525942.2:c.640G>A, XM_011525942.1:c.640G>A, NP_001641.1:p.Ala221Thr, NP_004019.1:p.Ala199Thr, NP_001304313.1:p.Ala221Thr, NP_001351218.1:p.Ala199Thr, NP_001351216.1:p.Ala199Thr, NP_001351215.1:p.Ala199Thr, XP_011524244.1:p.Ala214Thr

Select item 143235802418.

rs1432358024 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 18:26861294 (GRCh38)
18:24441258 (GRCh37)
Canonical SPDI:: NC_000018.10:26861293:A:C
Gene:: AQP4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.26861294A>C, NC_000018.9:g.24441258A>C, NG_029560.1:g.9459T>G, NM_001650.7:c.449T>G, NM_001650.6:c.449T>G, NM_001650.5:c.449T>G, NM_001650.4:c.449T>G, NM_004028.5:c.383T>G, NM_004028.4:c.383T>G, NM_004028.3:c.383T>G, NM_001317384.3:c.449T>G, NM_001317384.2:c.449T>G, NM_001317384.1:c.449T>G, NM_001317387.3:c.449T>G, NM_001317387.2:c.449T>G, NM_001317387.1:c.449T>G, NM_001364289.2:c.383T>G, NM_001364289.1:c.383T>G, NM_001364287.1:c.383T>G, NM_001364286.1:c.383T>G, XM_011525942.4:c.428T>G, XM_011525942.3:c.428T>G, XM_011525942.2:c.428T>G, XM_011525942.1:c.428T>G, NP_001641.1:p.Val150Gly, NP_004019.1:p.Val128Gly, NP_001304313.1:p.Val150Gly, NP_001304316.1:p.Val150Gly, NP_001351218.1:p.Val128Gly, NP_001351216.1:p.Val128Gly, NP_001351215.1:p.Val128Gly, XP_011524244.1:p.Val143Gly

Select item 143038369219.

rs1430383692 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:26862461 (GRCh38)
18:24442425 (GRCh37)
Canonical SPDI:: NC_000018.10:26862460:G:A
Gene:: AQP4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.26862461G>A, NC_000018.9:g.24442425G>A, NG_029560.1:g.8292C>T, NM_001650.7:c.168C>T, NM_001650.6:c.168C>T, NM_001650.5:c.168C>T, NM_001650.4:c.168C>T, NM_004028.5:c.102C>T, NM_004028.4:c.102C>T, NM_004028.3:c.102C>T, NM_001317384.3:c.168C>T, NM_001317384.2:c.168C>T, NM_001317384.1:c.168C>T, NM_001317387.3:c.168C>T, NM_001317387.2:c.168C>T, NM_001317387.1:c.168C>T, NM_001364289.2:c.102C>T, NM_001364289.1:c.102C>T, NM_001364287.1:c.102C>T, NM_001364286.1:c.102C>T, XM_011525942.4:c.147C>T, XM_011525942.3:c.147C>T, XM_011525942.2:c.147C>T, XM_011525942.1:c.147C>T

Select item 142479447920.

rs1424794479 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 18:26861271 (GRCh38)
18:24441235 (GRCh37)
Canonical SPDI:: NC_000018.10:26861270:G:C,NC_000018.10:26861270:G:T
Gene:: AQP4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000018.10:g.26861271G>C, NC_000018.10:g.26861271G>T, NC_000018.9:g.24441235G>C, NC_000018.9:g.24441235G>T, NG_029560.1:g.9482C>G, NG_029560.1:g.9482C>A, NM_001650.7:c.472C>G, NM_001650.7:c.472C>A, NM_001650.6:c.472C>G, NM_001650.6:c.472C>A, NM_001650.5:c.472C>G, NM_001650.5:c.472C>A, NM_001650.4:c.472C>G, NM_001650.4:c.472C>A, NM_004028.5:c.406C>G, NM_004028.5:c.406C>A, NM_004028.4:c.406C>G, NM_004028.4:c.406C>A, NM_004028.3:c.406C>G, NM_004028.3:c.406C>A, NM_001317384.3:c.472C>G, NM_001317384.3:c.472C>A, NM_001317384.2:c.472C>G, NM_001317384.2:c.472C>A, NM_001317384.1:c.472C>G, NM_001317384.1:c.472C>A, NM_001317387.3:c.472C>G, NM_001317387.3:c.472C>A, NM_001317387.2:c.472C>G, NM_001317387.2:c.472C>A, NM_001317387.1:c.472C>G, NM_001317387.1:c.472C>A, NM_001364289.2:c.406C>G, NM_001364289.2:c.406C>A, NM_001364289.1:c.406C>G, NM_001364289.1:c.406C>A, NM_001364287.1:c.406C>G, NM_001364287.1:c.406C>A, NM_001364286.1:c.406C>G, NM_001364286.1:c.406C>A, XM_011525942.4:c.451C>G, XM_011525942.4:c.451C>A, XM_011525942.3:c.451C>G, XM_011525942.3:c.451C>A, XM_011525942.2:c.451C>G, XM_011525942.2:c.451C>A, XM_011525942.1:c.451C>G, XM_011525942.1:c.451C>A, NP_001641.1:p.His158Asp, NP_001641.1:p.His158Asn, NP_004019.1:p.His136Asp, NP_004019.1:p.His136Asn, NP_001304313.1:p.His158Asp, NP_001304313.1:p.His158Asn, NP_001304316.1:p.His158Asp, NP_001304316.1:p.His158Asn, NP_001351218.1:p.His136Asp, NP_001351218.1:p.His136Asn, NP_001351216.1:p.His136Asp, NP_001351216.1:p.His136Asn, NP_001351215.1:p.His136Asp, NP_001351215.1:p.His136Asn, XP_011524244.1:p.His151Asp, XP_011524244.1:p.His151Asn

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Result Filters

Clinical Significance

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Annotation

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Items: 1 to 20 of 321

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