SNP Links for Protein (Select 197333706) - SNP

Select item 14904959201.

rs1490495920 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:89934611 (GRCh38)
1:90400170 (GRCh37)
Canonical SPDI:: NC_000001.11:89934610:C:T
Gene:: LRRC8D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.89934611C>T, NC_000001.10:g.90400170C>T, NM_018103.5:c.1543C>T, NM_018103.4:c.1543C>T, XM_011541689.2:c.1543C>T, XM_011541689.1:c.1543C>T, NM_001134479.2:c.1543C>T, NM_001134479.1:c.1543C>T, XM_047423961.1:c.1543C>T, XM_047423953.1:c.1543C>T, XM_047423956.1:c.1543C>T, XM_047423947.1:c.1543C>T, XM_047423940.1:c.1543C>T, XM_047423944.1:c.1543C>T, XM_047423950.1:c.1543C>T, XM_047423943.1:c.1543C>T, XM_047423954.1:c.1543C>T, XM_047423946.1:c.1543C>T, NP_060573.2:p.Leu515Phe, XP_011539991.1:p.Leu515Phe, NP_001127951.1:p.Leu515Phe, XP_047279917.1:p.Leu515Phe, XP_047279909.1:p.Leu515Phe, XP_047279912.1:p.Leu515Phe, XP_047279903.1:p.Leu515Phe, XP_047279896.1:p.Leu515Phe, XP_047279900.1:p.Leu515Phe, XP_047279906.1:p.Leu515Phe, XP_047279899.1:p.Leu515Phe, XP_047279910.1:p.Leu515Phe, XP_047279902.1:p.Leu515Phe

Select item 14875559192.

rs1487555919 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:89935373 (GRCh38)
1:90400932 (GRCh37)
Canonical SPDI:: NC_000001.11:89935372:A:C
Gene:: LRRC8D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.89935373A>C, NC_000001.10:g.90400932A>C, NM_018103.5:c.2305A>C, NM_018103.4:c.2305A>C, XM_011541689.2:c.2305A>C, XM_011541689.1:c.2305A>C, NM_001134479.2:c.2305A>C, NM_001134479.1:c.2305A>C, XM_047423961.1:c.2305A>C, XM_047423953.1:c.2305A>C, XM_047423956.1:c.2305A>C, XM_047423947.1:c.2305A>C, XM_047423940.1:c.2305A>C, XM_047423944.1:c.2305A>C, XM_047423950.1:c.2305A>C, XM_047423943.1:c.2305A>C, XM_047423954.1:c.2305A>C, XM_047423946.1:c.2305A>C, NP_060573.2:p.Lys769Gln, XP_011539991.1:p.Lys769Gln, NP_001127951.1:p.Lys769Gln, XP_047279917.1:p.Lys769Gln, XP_047279909.1:p.Lys769Gln, XP_047279912.1:p.Lys769Gln, XP_047279903.1:p.Lys769Gln, XP_047279896.1:p.Lys769Gln, XP_047279900.1:p.Lys769Gln, XP_047279906.1:p.Lys769Gln, XP_047279899.1:p.Lys769Gln, XP_047279910.1:p.Lys769Gln, XP_047279902.1:p.Lys769Gln

Select item 14875215333.

rs1487521533 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:89933852 (GRCh38)
1:90399411 (GRCh37)
Canonical SPDI:: NC_000001.11:89933851:T:G
Gene:: LRRC8D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.89933852T>G, NC_000001.10:g.90399411T>G, NM_018103.5:c.784T>G, NM_018103.4:c.784T>G, XM_011541689.2:c.784T>G, XM_011541689.1:c.784T>G, NM_001134479.2:c.784T>G, NM_001134479.1:c.784T>G, XM_047423961.1:c.784T>G, XM_047423953.1:c.784T>G, XM_047423956.1:c.784T>G, XM_047423947.1:c.784T>G, XM_047423940.1:c.784T>G, XM_047423944.1:c.784T>G, XM_047423950.1:c.784T>G, XM_047423943.1:c.784T>G, XM_047423954.1:c.784T>G, XM_047423946.1:c.784T>G, NP_060573.2:p.Ser262Ala, XP_011539991.1:p.Ser262Ala, NP_001127951.1:p.Ser262Ala, XP_047279917.1:p.Ser262Ala, XP_047279909.1:p.Ser262Ala, XP_047279912.1:p.Ser262Ala, XP_047279903.1:p.Ser262Ala, XP_047279896.1:p.Ser262Ala, XP_047279900.1:p.Ser262Ala, XP_047279906.1:p.Ser262Ala, XP_047279899.1:p.Ser262Ala, XP_047279910.1:p.Ser262Ala, XP_047279902.1:p.Ser262Ala

Select item 14836361454.

rs1483636145 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:89933239 (GRCh38)
1:90398798 (GRCh37)
Canonical SPDI:: NC_000001.11:89933238:A:C
Gene:: LRRC8D (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.89933239A>C, NC_000001.10:g.90398798A>C, NM_018103.5:c.171A>C, NM_018103.4:c.171A>C, XM_011541689.2:c.171A>C, XM_011541689.1:c.171A>C, NM_001134479.2:c.171A>C, NM_001134479.1:c.171A>C, XM_047423961.1:c.171A>C, XM_047423953.1:c.171A>C, XM_047423956.1:c.171A>C, XM_047423947.1:c.171A>C, XM_047423940.1:c.171A>C, XM_047423944.1:c.171A>C, XM_047423950.1:c.171A>C, XM_047423943.1:c.171A>C, XM_047423954.1:c.171A>C, XM_047423946.1:c.171A>C

Select item 14823817335.

rs1482381733 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:89934620 (GRCh38)
1:90400179 (GRCh37)
Canonical SPDI:: NC_000001.11:89934619:C:T
Gene:: LRRC8D (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.89934620C>T, NC_000001.10:g.90400179C>T, NM_018103.5:c.1552C>T, NM_018103.4:c.1552C>T, XM_011541689.2:c.1552C>T, XM_011541689.1:c.1552C>T, NM_001134479.2:c.1552C>T, NM_001134479.1:c.1552C>T, XM_047423961.1:c.1552C>T, XM_047423953.1:c.1552C>T, XM_047423956.1:c.1552C>T, XM_047423947.1:c.1552C>T, XM_047423940.1:c.1552C>T, XM_047423944.1:c.1552C>T, XM_047423950.1:c.1552C>T, XM_047423943.1:c.1552C>T, XM_047423954.1:c.1552C>T, XM_047423946.1:c.1552C>T, NP_060573.2:p.Leu518Phe, XP_011539991.1:p.Leu518Phe, NP_001127951.1:p.Leu518Phe, XP_047279917.1:p.Leu518Phe, XP_047279909.1:p.Leu518Phe, XP_047279912.1:p.Leu518Phe, XP_047279903.1:p.Leu518Phe, XP_047279896.1:p.Leu518Phe, XP_047279900.1:p.Leu518Phe, XP_047279906.1:p.Leu518Phe, XP_047279899.1:p.Leu518Phe, XP_047279910.1:p.Leu518Phe, XP_047279902.1:p.Leu518Phe

Select item 14797850806.

rs1479785080 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:89933513 (GRCh38)
1:90399072 (GRCh37)
Canonical SPDI:: NC_000001.11:89933512:A:G
Gene:: LRRC8D (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.89933513A>G, NC_000001.10:g.90399072A>G, NM_018103.5:c.445A>G, NM_018103.4:c.445A>G, XM_011541689.2:c.445A>G, XM_011541689.1:c.445A>G, NM_001134479.2:c.445A>G, NM_001134479.1:c.445A>G, XM_047423961.1:c.445A>G, XM_047423953.1:c.445A>G, XM_047423956.1:c.445A>G, XM_047423947.1:c.445A>G, XM_047423940.1:c.445A>G, XM_047423944.1:c.445A>G, XM_047423950.1:c.445A>G, XM_047423943.1:c.445A>G, XM_047423954.1:c.445A>G, XM_047423946.1:c.445A>G, NP_060573.2:p.Ile149Val, XP_011539991.1:p.Ile149Val, NP_001127951.1:p.Ile149Val, XP_047279917.1:p.Ile149Val, XP_047279909.1:p.Ile149Val, XP_047279912.1:p.Ile149Val, XP_047279903.1:p.Ile149Val, XP_047279896.1:p.Ile149Val, XP_047279900.1:p.Ile149Val, XP_047279906.1:p.Ile149Val, XP_047279899.1:p.Ile149Val, XP_047279910.1:p.Ile149Val, XP_047279902.1:p.Ile149Val

Select item 14794977447.

rs1479497744 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:89934166 (GRCh38)
1:90399725 (GRCh37)
Canonical SPDI:: NC_000001.11:89934165:C:A,NC_000001.11:89934165:C:T
Gene:: LRRC8D (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00014/2 (TOMMO)
A=0.00034/1 (KOREAN)
HGVS:: NC_000001.11:g.89934166C>A, NC_000001.11:g.89934166C>T, NC_000001.10:g.90399725C>A, NC_000001.10:g.90399725C>T, NM_018103.5:c.1098C>A, NM_018103.5:c.1098C>T, NM_018103.4:c.1098C>A, NM_018103.4:c.1098C>T, XM_011541689.2:c.1098C>A, XM_011541689.2:c.1098C>T, XM_011541689.1:c.1098C>A, XM_011541689.1:c.1098C>T, NM_001134479.2:c.1098C>A, NM_001134479.2:c.1098C>T, NM_001134479.1:c.1098C>A, NM_001134479.1:c.1098C>T, XM_047423961.1:c.1098C>A, XM_047423961.1:c.1098C>T, XM_047423953.1:c.1098C>A, XM_047423953.1:c.1098C>T, XM_047423956.1:c.1098C>A, XM_047423956.1:c.1098C>T, XM_047423947.1:c.1098C>A, XM_047423947.1:c.1098C>T, XM_047423940.1:c.1098C>A, XM_047423940.1:c.1098C>T, XM_047423944.1:c.1098C>A, XM_047423944.1:c.1098C>T, XM_047423950.1:c.1098C>A, XM_047423950.1:c.1098C>T, XM_047423943.1:c.1098C>A, XM_047423943.1:c.1098C>T, XM_047423954.1:c.1098C>A, XM_047423954.1:c.1098C>T, XM_047423946.1:c.1098C>A, XM_047423946.1:c.1098C>T

Select item 14781776218.

rs1478177621 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:89933422 (GRCh38)
1:90398981 (GRCh37)
Canonical SPDI:: NC_000001.11:89933421:A:G
Gene:: LRRC8D (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.89933422A>G, NC_000001.10:g.90398981A>G, NM_018103.5:c.354A>G, NM_018103.4:c.354A>G, XM_011541689.2:c.354A>G, XM_011541689.1:c.354A>G, NM_001134479.2:c.354A>G, NM_001134479.1:c.354A>G, XM_047423961.1:c.354A>G, XM_047423953.1:c.354A>G, XM_047423956.1:c.354A>G, XM_047423947.1:c.354A>G, XM_047423940.1:c.354A>G, XM_047423944.1:c.354A>G, XM_047423950.1:c.354A>G, XM_047423943.1:c.354A>G, XM_047423954.1:c.354A>G, XM_047423946.1:c.354A>G

Select item 14780114499.

rs1478011449 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:89934911 (GRCh38)
1:90400470 (GRCh37)
Canonical SPDI:: NC_000001.11:89934910:A:G
Gene:: LRRC8D (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_000001.11:g.89934911A>G, NC_000001.10:g.90400470A>G, NM_018103.5:c.1843A>G, NM_018103.4:c.1843A>G, XM_011541689.2:c.1843A>G, XM_011541689.1:c.1843A>G, NM_001134479.2:c.1843A>G, NM_001134479.1:c.1843A>G, XM_047423961.1:c.1843A>G, XM_047423953.1:c.1843A>G, XM_047423956.1:c.1843A>G, XM_047423947.1:c.1843A>G, XM_047423940.1:c.1843A>G, XM_047423944.1:c.1843A>G, XM_047423950.1:c.1843A>G, XM_047423943.1:c.1843A>G, XM_047423954.1:c.1843A>G, XM_047423946.1:c.1843A>G, NP_060573.2:p.Lys615Glu, XP_011539991.1:p.Lys615Glu, NP_001127951.1:p.Lys615Glu, XP_047279917.1:p.Lys615Glu, XP_047279909.1:p.Lys615Glu, XP_047279912.1:p.Lys615Glu, XP_047279903.1:p.Lys615Glu, XP_047279896.1:p.Lys615Glu, XP_047279900.1:p.Lys615Glu, XP_047279906.1:p.Lys615Glu, XP_047279899.1:p.Lys615Glu, XP_047279910.1:p.Lys615Glu, XP_047279902.1:p.Lys615Glu

Select item 147352339910.

rs1473523399 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:89933841 (GRCh38)
1:90399400 (GRCh37)
Canonical SPDI:: NC_000001.11:89933840:G:A
Gene:: LRRC8D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.89933841G>A, NC_000001.10:g.90399400G>A, NM_018103.5:c.773G>A, NM_018103.4:c.773G>A, XM_011541689.2:c.773G>A, XM_011541689.1:c.773G>A, NM_001134479.2:c.773G>A, NM_001134479.1:c.773G>A, XM_047423961.1:c.773G>A, XM_047423953.1:c.773G>A, XM_047423956.1:c.773G>A, XM_047423947.1:c.773G>A, XM_047423940.1:c.773G>A, XM_047423944.1:c.773G>A, XM_047423950.1:c.773G>A, XM_047423943.1:c.773G>A, XM_047423954.1:c.773G>A, XM_047423946.1:c.773G>A, NP_060573.2:p.Gly258Asp, XP_011539991.1:p.Gly258Asp, NP_001127951.1:p.Gly258Asp, XP_047279917.1:p.Gly258Asp, XP_047279909.1:p.Gly258Asp, XP_047279912.1:p.Gly258Asp, XP_047279903.1:p.Gly258Asp, XP_047279896.1:p.Gly258Asp, XP_047279900.1:p.Gly258Asp, XP_047279906.1:p.Gly258Asp, XP_047279899.1:p.Gly258Asp, XP_047279910.1:p.Gly258Asp, XP_047279902.1:p.Gly258Asp

Select item 147231308511.

rs1472313085 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:89935209 (GRCh38)
1:90400768 (GRCh37)
Canonical SPDI:: NC_000001.11:89935208:C:T
Gene:: LRRC8D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.89935209C>T, NC_000001.10:g.90400768C>T, NM_018103.5:c.2141C>T, NM_018103.4:c.2141C>T, XM_011541689.2:c.2141C>T, XM_011541689.1:c.2141C>T, NM_001134479.2:c.2141C>T, NM_001134479.1:c.2141C>T, XM_047423961.1:c.2141C>T, XM_047423953.1:c.2141C>T, XM_047423956.1:c.2141C>T, XM_047423947.1:c.2141C>T, XM_047423940.1:c.2141C>T, XM_047423944.1:c.2141C>T, XM_047423950.1:c.2141C>T, XM_047423943.1:c.2141C>T, XM_047423954.1:c.2141C>T, XM_047423946.1:c.2141C>T, NP_060573.2:p.Ser714Phe, XP_011539991.1:p.Ser714Phe, NP_001127951.1:p.Ser714Phe, XP_047279917.1:p.Ser714Phe, XP_047279909.1:p.Ser714Phe, XP_047279912.1:p.Ser714Phe, XP_047279903.1:p.Ser714Phe, XP_047279896.1:p.Ser714Phe, XP_047279900.1:p.Ser714Phe, XP_047279906.1:p.Ser714Phe, XP_047279899.1:p.Ser714Phe, XP_047279910.1:p.Ser714Phe, XP_047279902.1:p.Ser714Phe

Select item 147158299712.

rs1471582997 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:89935572 (GRCh38)
1:90401131 (GRCh37)
Canonical SPDI:: NC_000001.11:89935571:T:C
Gene:: LRRC8D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.89935572T>C, NC_000001.10:g.90401131T>C, NM_018103.5:c.2504T>C, NM_018103.4:c.2504T>C, XM_011541689.2:c.2504T>C, XM_011541689.1:c.2504T>C, NM_001134479.2:c.2504T>C, NM_001134479.1:c.2504T>C, XM_047423961.1:c.2504T>C, XM_047423953.1:c.2504T>C, XM_047423956.1:c.2504T>C, XM_047423947.1:c.2504T>C, XM_047423940.1:c.2504T>C, XM_047423944.1:c.2504T>C, XM_047423950.1:c.2504T>C, XM_047423943.1:c.2504T>C, XM_047423954.1:c.2504T>C, XM_047423946.1:c.2504T>C, NP_060573.2:p.Phe835Ser, XP_011539991.1:p.Phe835Ser, NP_001127951.1:p.Phe835Ser, XP_047279917.1:p.Phe835Ser, XP_047279909.1:p.Phe835Ser, XP_047279912.1:p.Phe835Ser, XP_047279903.1:p.Phe835Ser, XP_047279896.1:p.Phe835Ser, XP_047279900.1:p.Phe835Ser, XP_047279906.1:p.Phe835Ser, XP_047279899.1:p.Phe835Ser, XP_047279910.1:p.Phe835Ser, XP_047279902.1:p.Phe835Ser

Select item 147089341213.

rs1470893412 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:89933951 (GRCh38)
1:90399510 (GRCh37)
Canonical SPDI:: NC_000001.11:89933950:C:T
Gene:: LRRC8D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.89933951C>T, NC_000001.10:g.90399510C>T, NM_018103.5:c.883C>T, NM_018103.4:c.883C>T, XM_011541689.2:c.883C>T, XM_011541689.1:c.883C>T, NM_001134479.2:c.883C>T, NM_001134479.1:c.883C>T, XM_047423961.1:c.883C>T, XM_047423953.1:c.883C>T, XM_047423956.1:c.883C>T, XM_047423947.1:c.883C>T, XM_047423940.1:c.883C>T, XM_047423944.1:c.883C>T, XM_047423950.1:c.883C>T, XM_047423943.1:c.883C>T, XM_047423954.1:c.883C>T, XM_047423946.1:c.883C>T, NP_060573.2:p.Arg295Cys, XP_011539991.1:p.Arg295Cys, NP_001127951.1:p.Arg295Cys, XP_047279917.1:p.Arg295Cys, XP_047279909.1:p.Arg295Cys, XP_047279912.1:p.Arg295Cys, XP_047279903.1:p.Arg295Cys, XP_047279896.1:p.Arg295Cys, XP_047279900.1:p.Arg295Cys, XP_047279906.1:p.Arg295Cys, XP_047279899.1:p.Arg295Cys, XP_047279910.1:p.Arg295Cys, XP_047279902.1:p.Arg295Cys

Select item 147049730614.

rs1470497306 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:89935591 (GRCh38)
1:90401150 (GRCh37)
Canonical SPDI:: NC_000001.11:89935590:A:T
Gene:: LRRC8D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.89935591A>T, NC_000001.10:g.90401150A>T, NM_018103.5:c.2523A>T, NM_018103.4:c.2523A>T, XM_011541689.2:c.2523A>T, XM_011541689.1:c.2523A>T, NM_001134479.2:c.2523A>T, NM_001134479.1:c.2523A>T, XM_047423961.1:c.2523A>T, XM_047423953.1:c.2523A>T, XM_047423956.1:c.2523A>T, XM_047423947.1:c.2523A>T, XM_047423940.1:c.2523A>T, XM_047423944.1:c.2523A>T, XM_047423950.1:c.2523A>T, XM_047423943.1:c.2523A>T, XM_047423954.1:c.2523A>T, XM_047423946.1:c.2523A>T, NP_060573.2:p.Glu841Asp, XP_011539991.1:p.Glu841Asp, NP_001127951.1:p.Glu841Asp, XP_047279917.1:p.Glu841Asp, XP_047279909.1:p.Glu841Asp, XP_047279912.1:p.Glu841Asp, XP_047279903.1:p.Glu841Asp, XP_047279896.1:p.Glu841Asp, XP_047279900.1:p.Glu841Asp, XP_047279906.1:p.Glu841Asp, XP_047279899.1:p.Glu841Asp, XP_047279910.1:p.Glu841Asp, XP_047279902.1:p.Glu841Asp

Select item 146943248015.

rs1469432480 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:89934925 (GRCh38)
1:90400484 (GRCh37)
Canonical SPDI:: NC_000001.11:89934924:T:C
Gene:: LRRC8D (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.89934925T>C, NC_000001.10:g.90400484T>C, NM_018103.5:c.1857T>C, NM_018103.4:c.1857T>C, XM_011541689.2:c.1857T>C, XM_011541689.1:c.1857T>C, NM_001134479.2:c.1857T>C, NM_001134479.1:c.1857T>C, XM_047423961.1:c.1857T>C, XM_047423953.1:c.1857T>C, XM_047423956.1:c.1857T>C, XM_047423947.1:c.1857T>C, XM_047423940.1:c.1857T>C, XM_047423944.1:c.1857T>C, XM_047423950.1:c.1857T>C, XM_047423943.1:c.1857T>C, XM_047423954.1:c.1857T>C, XM_047423946.1:c.1857T>C

Select item 146392135816.

rs1463921358 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:89934876 (GRCh38)
1:90400435 (GRCh37)
Canonical SPDI:: NC_000001.11:89934875:C:T
Gene:: LRRC8D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.89934876C>T, NC_000001.10:g.90400435C>T, NM_018103.5:c.1808C>T, NM_018103.4:c.1808C>T, XM_011541689.2:c.1808C>T, XM_011541689.1:c.1808C>T, NM_001134479.2:c.1808C>T, NM_001134479.1:c.1808C>T, XM_047423961.1:c.1808C>T, XM_047423953.1:c.1808C>T, XM_047423956.1:c.1808C>T, XM_047423947.1:c.1808C>T, XM_047423940.1:c.1808C>T, XM_047423944.1:c.1808C>T, XM_047423950.1:c.1808C>T, XM_047423943.1:c.1808C>T, XM_047423954.1:c.1808C>T, XM_047423946.1:c.1808C>T, NP_060573.2:p.Pro603Leu, XP_011539991.1:p.Pro603Leu, NP_001127951.1:p.Pro603Leu, XP_047279917.1:p.Pro603Leu, XP_047279909.1:p.Pro603Leu, XP_047279912.1:p.Pro603Leu, XP_047279903.1:p.Pro603Leu, XP_047279896.1:p.Pro603Leu, XP_047279900.1:p.Pro603Leu, XP_047279906.1:p.Pro603Leu, XP_047279899.1:p.Pro603Leu, XP_047279910.1:p.Pro603Leu, XP_047279902.1:p.Pro603Leu

Select item 146325250717.

rs1463252507 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:89934738 (GRCh38)
1:90400297 (GRCh37)
Canonical SPDI:: NC_000001.11:89934737:A:G
Gene:: LRRC8D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.89934738A>G, NC_000001.10:g.90400297A>G, NM_018103.5:c.1670A>G, NM_018103.4:c.1670A>G, XM_011541689.2:c.1670A>G, XM_011541689.1:c.1670A>G, NM_001134479.2:c.1670A>G, NM_001134479.1:c.1670A>G, XM_047423961.1:c.1670A>G, XM_047423953.1:c.1670A>G, XM_047423956.1:c.1670A>G, XM_047423947.1:c.1670A>G, XM_047423940.1:c.1670A>G, XM_047423944.1:c.1670A>G, XM_047423950.1:c.1670A>G, XM_047423943.1:c.1670A>G, XM_047423954.1:c.1670A>G, XM_047423946.1:c.1670A>G, NP_060573.2:p.Tyr557Cys, XP_011539991.1:p.Tyr557Cys, NP_001127951.1:p.Tyr557Cys, XP_047279917.1:p.Tyr557Cys, XP_047279909.1:p.Tyr557Cys, XP_047279912.1:p.Tyr557Cys, XP_047279903.1:p.Tyr557Cys, XP_047279896.1:p.Tyr557Cys, XP_047279900.1:p.Tyr557Cys, XP_047279906.1:p.Tyr557Cys, XP_047279899.1:p.Tyr557Cys, XP_047279910.1:p.Tyr557Cys, XP_047279902.1:p.Tyr557Cys

Select item 145691263018.

rs1456912630 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:89933798 (GRCh38)
1:90399357 (GRCh37)
Canonical SPDI:: NC_000001.11:89933797:G:A
Gene:: LRRC8D (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000001.11:g.89933798G>A, NC_000001.10:g.90399357G>A, NM_018103.5:c.730G>A, NM_018103.4:c.730G>A, XM_011541689.2:c.730G>A, XM_011541689.1:c.730G>A, NM_001134479.2:c.730G>A, NM_001134479.1:c.730G>A, XM_047423961.1:c.730G>A, XM_047423953.1:c.730G>A, XM_047423956.1:c.730G>A, XM_047423947.1:c.730G>A, XM_047423940.1:c.730G>A, XM_047423944.1:c.730G>A, XM_047423950.1:c.730G>A, XM_047423943.1:c.730G>A, XM_047423954.1:c.730G>A, XM_047423946.1:c.730G>A, NP_060573.2:p.Glu244Lys, XP_011539991.1:p.Glu244Lys, NP_001127951.1:p.Glu244Lys, XP_047279917.1:p.Glu244Lys, XP_047279909.1:p.Glu244Lys, XP_047279912.1:p.Glu244Lys, XP_047279903.1:p.Glu244Lys, XP_047279896.1:p.Glu244Lys, XP_047279900.1:p.Glu244Lys, XP_047279906.1:p.Glu244Lys, XP_047279899.1:p.Glu244Lys, XP_047279910.1:p.Glu244Lys, XP_047279902.1:p.Glu244Lys

Select item 145594138819.

rs1455941388 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:89934893 (GRCh38)
1:90400452 (GRCh37)
Canonical SPDI:: NC_000001.11:89934892:G:A
Gene:: LRRC8D (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.89934893G>A, NC_000001.10:g.90400452G>A, NM_018103.5:c.1825G>A, NM_018103.4:c.1825G>A, XM_011541689.2:c.1825G>A, XM_011541689.1:c.1825G>A, NM_001134479.2:c.1825G>A, NM_001134479.1:c.1825G>A, XM_047423961.1:c.1825G>A, XM_047423953.1:c.1825G>A, XM_047423956.1:c.1825G>A, XM_047423947.1:c.1825G>A, XM_047423940.1:c.1825G>A, XM_047423944.1:c.1825G>A, XM_047423950.1:c.1825G>A, XM_047423943.1:c.1825G>A, XM_047423954.1:c.1825G>A, XM_047423946.1:c.1825G>A, NP_060573.2:p.Val609Met, XP_011539991.1:p.Val609Met, NP_001127951.1:p.Val609Met, XP_047279917.1:p.Val609Met, XP_047279909.1:p.Val609Met, XP_047279912.1:p.Val609Met, XP_047279903.1:p.Val609Met, XP_047279896.1:p.Val609Met, XP_047279900.1:p.Val609Met, XP_047279906.1:p.Val609Met, XP_047279899.1:p.Val609Met, XP_047279910.1:p.Val609Met, XP_047279902.1:p.Val609Met

Select item 145576319820.

rs1455763198 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:89935510 (GRCh38)
1:90401069 (GRCh37)
Canonical SPDI:: NC_000001.11:89935509:A:C
Gene:: LRRC8D (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.89935510A>C, NC_000001.10:g.90401069A>C, NM_018103.5:c.2442A>C, NM_018103.4:c.2442A>C, XM_011541689.2:c.2442A>C, XM_011541689.1:c.2442A>C, NM_001134479.2:c.2442A>C, NM_001134479.1:c.2442A>C, XM_047423961.1:c.2442A>C, XM_047423953.1:c.2442A>C, XM_047423956.1:c.2442A>C, XM_047423947.1:c.2442A>C, XM_047423940.1:c.2442A>C, XM_047423944.1:c.2442A>C, XM_047423950.1:c.2442A>C, XM_047423943.1:c.2442A>C, XM_047423954.1:c.2442A>C, XM_047423946.1:c.2442A>C

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