SNP Links for Protein (Select 1034599307) - SNP

Select item 14909044191.

rs1490904419 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:80223275 (GRCh38)
17:78197074 (GRCh37)
Canonical SPDI:: NC_000017.11:80223274:T:C
Gene:: SLC26A11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.80223275T>C, NC_000017.10:g.78197074T>C, NG_008229.1:g.2126A>G, NM_173626.4:c.451T>C, NM_173626.3:c.451T>C, XM_006721833.3:c.523T>C, XM_006721833.2:c.523T>C, XM_006721833.1:c.523T>C, XM_017024507.2:c.523T>C, XM_017024507.1:c.523T>C, NM_001166347.2:c.451T>C, NM_001166347.1:c.451T>C, NM_001166348.2:c.451T>C, NM_001166348.1:c.451T>C, XM_017024505.2:c.523T>C, XM_017024505.1:c.721T>C, NM_001166349.2:c.451T>C, NM_001166349.1:c.451T>C, XM_047435806.1:c.451T>C, XM_047435807.1:c.171T>C, XM_047435808.1:c.99T>C, NP_775897.3:p.Tyr151His, XP_006721896.1:p.Tyr175His, XP_016879996.1:p.Tyr175His, NP_001159819.1:p.Tyr151His, NP_001159820.1:p.Tyr151His, XP_016879994.2:p.Tyr175His, NP_001159821.1:p.Tyr151His, XP_047291762.1:p.Tyr151His

Select item 14877961542.

rs1487796154 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:80248201 (GRCh38)
17:78222000 (GRCh37)
Canonical SPDI:: NC_000017.11:80248200:G:A
Gene:: SLC26A11 (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=0.000008/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.80248201G>A, NC_000017.10:g.78222000G>A, NM_173626.4:c.1366G>A, NM_173626.3:c.1366G>A, XM_006721833.3:c.1438G>A, XM_006721833.2:c.1438G>A, XM_006721833.1:c.1438G>A, XM_017024507.2:c.1438G>A, XM_017024507.1:c.1438G>A, NM_001166347.2:c.1366G>A, NM_001166347.1:c.1366G>A, NM_001166348.2:c.1366G>A, NM_001166348.1:c.1366G>A, XM_017024505.2:c.1438G>A, XM_017024505.1:c.1636G>A, NM_001166349.2:c.1366G>A, NM_001166349.1:c.1366G>A, XM_047435806.1:c.1366G>A, XM_047435807.1:c.943G>A, XM_047435808.1:c.871G>A, NP_775897.3:p.Gly456Arg, XP_006721896.1:p.Gly480Arg, XP_016879996.1:p.Gly480Arg, NP_001159819.1:p.Gly456Arg, NP_001159820.1:p.Gly456Arg, XP_016879994.2:p.Gly480Arg, NP_001159821.1:p.Gly456Arg, XP_047291762.1:p.Gly456Arg, XP_047291763.1:p.Gly315Arg, XP_047291764.1:p.Gly291Arg

Select item 14869361443.

rs1486936144 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:80222699 (GRCh38)
17:78196498 (GRCh37)
Canonical SPDI:: NC_000017.11:80222698:C:T
Gene:: SLC26A11 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.80222699C>T, NC_000017.10:g.78196498C>T, NG_008229.1:g.2702G>A, NM_173626.4:c.279C>T, NM_173626.3:c.279C>T, XM_006721833.3:c.279C>T, XM_006721833.2:c.279C>T, XM_006721833.1:c.279C>T, XM_017024507.2:c.279C>T, XM_017024507.1:c.279C>T, NM_001166347.2:c.279C>T, NM_001166347.1:c.279C>T, NM_001166348.2:c.279C>T, NM_001166348.1:c.279C>T, XM_017024505.2:c.279C>T, XM_017024505.1:c.477C>T, NM_001166349.2:c.279C>T, NM_001166349.1:c.279C>T, XM_047435806.1:c.279C>T, XM_047435807.1:c.-74C>T, XM_047435808.1:c.-74C>T

Select item 14860456794.

rs1486045679 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:80248655 (GRCh38)
17:78222454 (GRCh37)
Canonical SPDI:: NC_000017.11:80248654:C:A
Gene:: SLC26A11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.80248655C>A, NC_000017.10:g.78222454C>A, NM_173626.4:c.1503C>A, NM_173626.3:c.1503C>A, XM_006721833.3:c.1575C>A, XM_006721833.2:c.1575C>A, XM_006721833.1:c.1575C>A, XM_017024507.2:c.1575C>A, XM_017024507.1:c.1575C>A, NM_001166347.2:c.1503C>A, NM_001166347.1:c.1503C>A, NM_001166348.2:c.1503C>A, NM_001166348.1:c.1503C>A, XM_017024505.2:c.1575C>A, XM_017024505.1:c.1773C>A, NM_001166349.2:c.1503C>A, NM_001166349.1:c.1503C>A, XM_047435806.1:c.1503C>A, XM_047435807.1:c.1080C>A, XM_047435808.1:c.1008C>A

Select item 14859923685.

rs1485992368 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:80227864 (GRCh38)
17:78201663 (GRCh37)
Canonical SPDI:: NC_000017.11:80227863:G:A,NC_000017.11:80227863:G:C
Gene:: SLC26A11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.80227864G>A, NC_000017.11:g.80227864G>C, NC_000017.10:g.78201663G>A, NC_000017.10:g.78201663G>C, NM_173626.4:c.640G>A, NM_173626.4:c.640G>C, NM_173626.3:c.640G>A, NM_173626.3:c.640G>C, XM_006721833.3:c.712G>A, XM_006721833.3:c.712G>C, XM_006721833.2:c.712G>A, XM_006721833.2:c.712G>C, XM_006721833.1:c.712G>A, XM_006721833.1:c.712G>C, XM_017024507.2:c.712G>A, XM_017024507.2:c.712G>C, XM_017024507.1:c.712G>A, XM_017024507.1:c.712G>C, NM_001166347.2:c.640G>A, NM_001166347.2:c.640G>C, NM_001166347.1:c.640G>A, NM_001166347.1:c.640G>C, NM_001166348.2:c.640G>A, NM_001166348.2:c.640G>C, NM_001166348.1:c.640G>A, NM_001166348.1:c.640G>C, XM_017024505.2:c.712G>A, XM_017024505.2:c.712G>C, XM_017024505.1:c.910G>A, XM_017024505.1:c.910G>C, NM_001166349.2:c.640G>A, NM_001166349.2:c.640G>C, NM_001166349.1:c.640G>A, NM_001166349.1:c.640G>C, XM_047435806.1:c.640G>A, XM_047435806.1:c.640G>C, NP_775897.3:p.Val214Met, NP_775897.3:p.Val214Leu, XP_006721896.1:p.Val238Met, XP_006721896.1:p.Val238Leu, XP_016879996.1:p.Val238Met, XP_016879996.1:p.Val238Leu, NP_001159819.1:p.Val214Met, NP_001159819.1:p.Val214Leu, NP_001159820.1:p.Val214Met, NP_001159820.1:p.Val214Leu, XP_016879994.2:p.Val238Met, XP_016879994.2:p.Val238Leu, NP_001159821.1:p.Val214Met, NP_001159821.1:p.Val214Leu, XP_047291762.1:p.Val214Met, XP_047291762.1:p.Val214Leu

Select item 14842309216.

rs1484230921 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:80236937 (GRCh38)
17:78210736 (GRCh37)
Canonical SPDI:: NC_000017.11:80236936:C:T
Gene:: SLC26A11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.80236937C>T, NC_000017.10:g.78210736C>T, NM_173626.4:c.746C>T, NM_173626.3:c.746C>T, XM_006721833.3:c.818C>T, XM_006721833.2:c.818C>T, XM_006721833.1:c.818C>T, XM_017024507.2:c.818C>T, XM_017024507.1:c.818C>T, NM_001166347.2:c.746C>T, NM_001166347.1:c.746C>T, NM_001166348.2:c.746C>T, NM_001166348.1:c.746C>T, XM_017024505.2:c.818C>T, XM_017024505.1:c.1016C>T, NM_001166349.2:c.746C>T, NM_001166349.1:c.746C>T, XM_047435806.1:c.746C>T, XM_047435807.1:c.323C>T, XM_047435808.1:c.251C>T, NP_775897.3:p.Ala249Val, XP_006721896.1:p.Ala273Val, XP_016879996.1:p.Ala273Val, NP_001159819.1:p.Ala249Val, NP_001159820.1:p.Ala249Val, XP_016879994.2:p.Ala273Val, NP_001159821.1:p.Ala249Val, XP_047291762.1:p.Ala249Val, XP_047291763.1:p.Ala108Val, XP_047291764.1:p.Ala84Val

Select item 14836659497.

rs1483665949 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:80237552 (GRCh38)
17:78211351 (GRCh37)
Canonical SPDI:: NC_000017.11:80237551:CT:
Gene:: SLC26A11 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.80237552_80237553del, NC_000017.10:g.78211351_78211352del, NM_173626.4:c.943_944del, NM_173626.3:c.943_944del, XM_006721833.3:c.1015_1016del, XM_006721833.2:c.1015_1016del, XM_006721833.1:c.1015_1016del, XM_017024507.2:c.1015_1016del, XM_017024507.1:c.1015_1016del, NM_001166347.2:c.943_944del, NM_001166347.1:c.943_944del, NM_001166348.2:c.943_944del, NM_001166348.1:c.943_944del, XM_017024505.2:c.1015_1016del, XM_017024505.1:c.1213_1214del, NM_001166349.2:c.943_944del, NM_001166349.1:c.943_944del, XM_047435806.1:c.943_944del, XM_047435807.1:c.520_521del, XM_047435808.1:c.448_449del, NP_775897.3:p.Leu315fs, XP_006721896.1:p.Leu339fs, XP_016879996.1:p.Leu339fs, NP_001159819.1:p.Leu315fs, NP_001159820.1:p.Leu315fs, XP_016879994.2:p.Leu339fs, NP_001159821.1:p.Leu315fs, XP_047291762.1:p.Leu315fs, XP_047291763.1:p.Leu174fs, XP_047291764.1:p.Leu150fs

Select item 14829621908.

rs1482962190 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 17:80248257 (GRCh38)
17:78222056 (GRCh37)
Canonical SPDI:: NC_000017.11:80248256:G:C,NC_000017.11:80248256:G:T
Gene:: SLC26A11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000017.11:g.80248257G>C, NC_000017.11:g.80248257G>T, NC_000017.10:g.78222056G>C, NC_000017.10:g.78222056G>T, NM_173626.4:c.1422G>C, NM_173626.4:c.1422G>T, NM_173626.3:c.1422G>C, NM_173626.3:c.1422G>T, XM_006721833.3:c.1494G>C, XM_006721833.3:c.1494G>T, XM_006721833.2:c.1494G>C, XM_006721833.2:c.1494G>T, XM_006721833.1:c.1494G>C, XM_006721833.1:c.1494G>T, XM_017024507.2:c.1494G>C, XM_017024507.2:c.1494G>T, XM_017024507.1:c.1494G>C, XM_017024507.1:c.1494G>T, NM_001166347.2:c.1422G>C, NM_001166347.2:c.1422G>T, NM_001166347.1:c.1422G>C, NM_001166347.1:c.1422G>T, NM_001166348.2:c.1422G>C, NM_001166348.2:c.1422G>T, NM_001166348.1:c.1422G>C, NM_001166348.1:c.1422G>T, XM_017024505.2:c.1494G>C, XM_017024505.2:c.1494G>T, XM_017024505.1:c.1692G>C, XM_017024505.1:c.1692G>T, NM_001166349.2:c.1422G>C, NM_001166349.2:c.1422G>T, NM_001166349.1:c.1422G>C, NM_001166349.1:c.1422G>T, XM_047435806.1:c.1422G>C, XM_047435806.1:c.1422G>T, XM_047435807.1:c.999G>C, XM_047435807.1:c.999G>T, XM_047435808.1:c.927G>C, XM_047435808.1:c.927G>T, NP_775897.3:p.Lys474Asn, NP_775897.3:p.Lys474Asn, XP_006721896.1:p.Lys498Asn, XP_006721896.1:p.Lys498Asn, XP_016879996.1:p.Lys498Asn, XP_016879996.1:p.Lys498Asn, NP_001159819.1:p.Lys474Asn, NP_001159819.1:p.Lys474Asn, NP_001159820.1:p.Lys474Asn, NP_001159820.1:p.Lys474Asn, XP_016879994.2:p.Lys498Asn, XP_016879994.2:p.Lys498Asn, NP_001159821.1:p.Lys474Asn, NP_001159821.1:p.Lys474Asn, XP_047291762.1:p.Lys474Asn, XP_047291762.1:p.Lys474Asn, XP_047291763.1:p.Lys333Asn, XP_047291763.1:p.Lys333Asn, XP_047291764.1:p.Lys309Asn, XP_047291764.1:p.Lys309Asn

Select item 14823838549.

rs1482383854 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:80222685 (GRCh38)
17:78196484 (GRCh37)
Canonical SPDI:: NC_000017.11:80222684:T:A
Gene:: SLC26A11 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.80222685T>A, NC_000017.10:g.78196484T>A, NG_008229.1:g.2716A>T, NM_173626.4:c.265T>A, NM_173626.3:c.265T>A, XM_006721833.3:c.265T>A, XM_006721833.2:c.265T>A, XM_006721833.1:c.265T>A, XM_017024507.2:c.265T>A, XM_017024507.1:c.265T>A, NM_001166347.2:c.265T>A, NM_001166347.1:c.265T>A, NM_001166348.2:c.265T>A, NM_001166348.1:c.265T>A, XM_017024505.2:c.265T>A, XM_017024505.1:c.463T>A, NM_001166349.2:c.265T>A, NM_001166349.1:c.265T>A, XM_047435806.1:c.265T>A, XM_047435807.1:c.-88T>A, XM_047435808.1:c.-88T>A, NP_775897.3:p.Phe89Ile, XP_006721896.1:p.Phe89Ile, XP_016879996.1:p.Phe89Ile, NP_001159819.1:p.Phe89Ile, NP_001159820.1:p.Phe89Ile, XP_016879994.2:p.Phe89Ile, NP_001159821.1:p.Phe89Ile, XP_047291762.1:p.Phe89Ile

Select item 147894789410.

rs1478947894 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 17:80248241 (GRCh38)
17:78222040 (GRCh37)
Canonical SPDI:: NC_000017.11:80248240:CC:C
Gene:: SLC26A11 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.80248242del, NC_000017.10:g.78222041del, NM_173626.4:c.1407del, NM_173626.3:c.1407del, XM_006721833.3:c.1479del, XM_006721833.2:c.1479del, XM_006721833.1:c.1479del, XM_017024507.2:c.1479del, XM_017024507.1:c.1479del, NM_001166347.2:c.1407del, NM_001166347.1:c.1407del, NM_001166348.2:c.1407del, NM_001166348.1:c.1407del, XM_017024505.2:c.1479del, XM_017024505.1:c.1677del, NM_001166349.2:c.1407del, NM_001166349.1:c.1407del, XM_047435806.1:c.1407del, XM_047435807.1:c.984del, XM_047435808.1:c.912del, NP_775897.3:p.Arg470fs, XP_006721896.1:p.Arg494fs, XP_016879996.1:p.Arg494fs, NP_001159819.1:p.Arg470fs, NP_001159820.1:p.Arg470fs, XP_016879994.2:p.Arg494fs, NP_001159821.1:p.Arg470fs, XP_047291762.1:p.Arg470fs, XP_047291763.1:p.Arg329fs, XP_047291764.1:p.Arg305fs

Select item 147891050611.

rs1478910506 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:80246546 (GRCh38)
17:78220345 (GRCh37)
Canonical SPDI:: NC_000017.11:80246545:A:C,NC_000017.11:80246545:A:G
Gene:: SLC26A11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.80246546A>C, NC_000017.11:g.80246546A>G, NC_000017.10:g.78220345A>C, NC_000017.10:g.78220345A>G, NM_173626.4:c.1191A>C, NM_173626.4:c.1191A>G, NM_173626.3:c.1191A>C, NM_173626.3:c.1191A>G, XM_006721833.3:c.1263A>C, XM_006721833.3:c.1263A>G, XM_006721833.2:c.1263A>C, XM_006721833.2:c.1263A>G, XM_006721833.1:c.1263A>C, XM_006721833.1:c.1263A>G, XM_017024507.2:c.1263A>C, XM_017024507.2:c.1263A>G, XM_017024507.1:c.1263A>C, XM_017024507.1:c.1263A>G, NM_001166347.2:c.1191A>C, NM_001166347.2:c.1191A>G, NM_001166347.1:c.1191A>C, NM_001166347.1:c.1191A>G, NM_001166348.2:c.1191A>C, NM_001166348.2:c.1191A>G, NM_001166348.1:c.1191A>C, NM_001166348.1:c.1191A>G, XM_017024505.2:c.1263A>C, XM_017024505.2:c.1263A>G, XM_017024505.1:c.1461A>C, XM_017024505.1:c.1461A>G, NM_001166349.2:c.1191A>C, NM_001166349.2:c.1191A>G, NM_001166349.1:c.1191A>C, NM_001166349.1:c.1191A>G, XM_047435806.1:c.1191A>C, XM_047435806.1:c.1191A>G, XM_047435807.1:c.768A>C, XM_047435807.1:c.768A>G, XM_047435808.1:c.696A>C, XM_047435808.1:c.696A>G

Select item 147800867712.

rs1478008677 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:80252702 (GRCh38)
17:78226501 (GRCh37)
Canonical SPDI:: NC_000017.11:80252701:C:T
Gene:: SLC26A11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.80252702C>T, NC_000017.10:g.78226501C>T, NM_173626.4:c.1807C>T, NM_173626.3:c.1807C>T, XM_006721833.3:c.1879C>T, XM_006721833.2:c.1879C>T, XM_006721833.1:c.1879C>T, XM_017024507.2:c.1879C>T, XM_017024507.1:c.1879C>T, NM_001166347.2:c.1807C>T, NM_001166347.1:c.1807C>T, NM_001166348.2:c.1807C>T, NM_001166348.1:c.1807C>T, XM_017024505.2:c.1879C>T, XM_017024505.1:c.2077C>T, NM_001166349.2:c.1807C>T, NM_001166349.1:c.1807C>T, XM_047435806.1:c.1807C>T, XM_047435807.1:c.1384C>T, XM_047435808.1:c.1312C>T

Select item 147743803313.

rs1477438033 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 17:80221616 (GRCh38)
17:78195415 (GRCh37)
Canonical SPDI:: NC_000017.11:80221615:CCCC:CCC
Gene:: SGSH (Varview), SLC26A11 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.80221619del, NC_000017.10:g.78195418del, NG_008229.1:g.3785del, NM_173626.4:c.59del, NM_173626.3:c.59del, XM_006721833.3:c.59del, XM_006721833.2:c.59del, XM_006721833.1:c.59del, XM_017024507.2:c.59del, XM_017024507.1:c.59del, NM_001166347.2:c.59del, NM_001166347.1:c.59del, NM_001166348.2:c.59del, NM_001166348.1:c.59del, XM_017024505.2:c.59del, XM_017024505.1:c.257del, NM_001166349.2:c.59del, NM_001166349.1:c.59del, XM_047435806.1:c.59del, NP_775897.3:p.Pro20fs, XP_006721896.1:p.Pro20fs, XP_016879996.1:p.Pro20fs, NP_001159819.1:p.Pro20fs, NP_001159820.1:p.Pro20fs, XP_016879994.2:p.Pro20fs, NP_001159821.1:p.Pro20fs, XP_047291762.1:p.Pro20fs

Select item 147586889014.

rs1475868890 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:80223279 (GRCh38)
17:78197078 (GRCh37)
Canonical SPDI:: NC_000017.11:80223278:C:G
Gene:: SLC26A11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.80223279C>G, NC_000017.10:g.78197078C>G, NG_008229.1:g.2122G>C, NM_173626.4:c.455C>G, NM_173626.3:c.455C>G, XM_006721833.3:c.527C>G, XM_006721833.2:c.527C>G, XM_006721833.1:c.527C>G, XM_017024507.2:c.527C>G, XM_017024507.1:c.527C>G, NM_001166347.2:c.455C>G, NM_001166347.1:c.455C>G, NM_001166348.2:c.455C>G, NM_001166348.1:c.455C>G, XM_017024505.2:c.527C>G, XM_017024505.1:c.725C>G, NM_001166349.2:c.455C>G, NM_001166349.1:c.455C>G, XM_047435806.1:c.455C>G, XM_047435807.1:c.175C>G, XM_047435808.1:c.103C>G, NP_775897.3:p.Pro152Arg, XP_006721896.1:p.Pro176Arg, XP_016879996.1:p.Pro176Arg, NP_001159819.1:p.Pro152Arg, NP_001159820.1:p.Pro152Arg, XP_016879994.2:p.Pro176Arg, NP_001159821.1:p.Pro152Arg, XP_047291762.1:p.Pro152Arg, XP_047291763.1:p.Pro59Ala, XP_047291764.1:p.Pro35Ala

Select item 147558849815.

rs1475588498 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 17:80222688 (GRCh38)
17:78196487 (GRCh37)
Canonical SPDI:: NC_000017.11:80222687:G:
Gene:: SLC26A11 (Varview)
Functional Consequence:: 5_prime_UTR_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.80222688del, NC_000017.10:g.78196487del, NG_008229.1:g.2713del, NM_173626.4:c.268del, NM_173626.3:c.268del, XM_006721833.3:c.268del, XM_006721833.2:c.268del, XM_006721833.1:c.268del, XM_017024507.2:c.268del, XM_017024507.1:c.268del, NM_001166347.2:c.268del, NM_001166347.1:c.268del, NM_001166348.2:c.268del, NM_001166348.1:c.268del, XM_017024505.2:c.268del, XM_017024505.1:c.466del, NM_001166349.2:c.268del, NM_001166349.1:c.268del, XM_047435806.1:c.268del, XM_047435807.1:c.-85del, XM_047435808.1:c.-85del, NP_775897.3:p.Val90fs, XP_006721896.1:p.Val90fs, XP_016879996.1:p.Val90fs, NP_001159819.1:p.Val90fs, NP_001159820.1:p.Val90fs, XP_016879994.2:p.Val90fs, NP_001159821.1:p.Val90fs, XP_047291762.1:p.Val90fs

Select item 147552640816.

rs1475526408 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:80222690 (GRCh38)
17:78196490 (GRCh37)
Canonical SPDI:: NC_000017.11:80222690:T:TT
Gene:: SLC26A11 (Varview)
Functional Consequence:: 5_prime_UTR_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.80222691dup, NC_000017.10:g.78196490dup, NG_008229.1:g.2710dup, NM_173626.4:c.271dup, NM_173626.3:c.271dup, XM_006721833.3:c.271dup, XM_006721833.2:c.271dup, XM_006721833.1:c.271dup, XM_017024507.2:c.271dup, XM_017024507.1:c.271dup, NM_001166347.2:c.271dup, NM_001166347.1:c.271dup, NM_001166348.2:c.271dup, NM_001166348.1:c.271dup, XM_017024505.2:c.271dup, XM_017024505.1:c.469dup, NM_001166349.2:c.271dup, NM_001166349.1:c.271dup, XM_047435806.1:c.271dup, XM_047435807.1:c.-82dup, XM_047435808.1:c.-82dup, NP_775897.3:p.Tyr91fs, XP_006721896.1:p.Tyr91fs, XP_016879996.1:p.Tyr91fs, NP_001159819.1:p.Tyr91fs, NP_001159820.1:p.Tyr91fs, XP_016879994.2:p.Tyr91fs, NP_001159821.1:p.Tyr91fs, XP_047291762.1:p.Tyr91fs

Select item 147413865217.

rs1474138652 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:80223180 (GRCh38)
17:78196979 (GRCh37)
Canonical SPDI:: NC_000017.11:80223179:C:T
Gene:: SLC26A11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_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_000017.11:g.80223180C>T, NC_000017.10:g.78196979C>T, NG_008229.1:g.2221G>A, XM_006721833.3:c.428C>T, XM_006721833.2:c.428C>T, XM_006721833.1:c.428C>T, XM_017024507.2:c.428C>T, XM_017024507.1:c.428C>T, XM_017024505.2:c.428C>T, XM_017024505.1:c.626C>T, XM_047435807.1:c.76C>T, XP_006721896.1:p.Ala143Val, XP_016879996.1:p.Ala143Val, XP_016879994.2:p.Ala143Val, XP_047291763.1:p.Leu26Phe

Select item 147274569918.

rs1472745699 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGCTGAGGGGCTCCC>- [Show Flanks]
Chromosome:: 17:80237019 (GRCh38)
17:78210818 (GRCh37)
Canonical SPDI:: NC_000017.11:80237017:CAGCTGAGGGGCTCCC:C
Gene:: SLC26A11 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.80237019_80237033del, NC_000017.10:g.78210818_78210832del, NM_173626.4:c.828_842del, NM_173626.3:c.828_842del, XM_006721833.3:c.900_914del, XM_006721833.2:c.900_914del, XM_006721833.1:c.900_914del, XM_017024507.2:c.900_914del, XM_017024507.1:c.900_914del, NM_001166347.2:c.828_842del, NM_001166347.1:c.828_842del, NM_001166348.2:c.828_842del, NM_001166348.1:c.828_842del, XM_017024505.2:c.900_914del, XM_017024505.1:c.1098_1112del, NM_001166349.2:c.828_842del, NM_001166349.1:c.828_842del, XM_047435806.1:c.828_842del, XM_047435807.1:c.405_419del, XM_047435808.1:c.333_347del, NP_775897.3:p.Ala277_Pro281del, XP_006721896.1:p.Ala301_Pro305del, XP_016879996.1:p.Ala301_Pro305del, NP_001159819.1:p.Ala277_Pro281del, NP_001159820.1:p.Ala277_Pro281del, XP_016879994.2:p.Ala301_Pro305del, NP_001159821.1:p.Ala277_Pro281del, XP_047291762.1:p.Ala277_Pro281del, XP_047291763.1:p.Ala136_Pro140del, XP_047291764.1:p.Ala112_Pro116del

Select item 147244699619.

rs1472446996 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:80248208 (GRCh38)
17:78222007 (GRCh37)
Canonical SPDI:: NC_000017.11:80248207:T:C
Gene:: SLC26A11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.80248208T>C, NC_000017.10:g.78222007T>C, NM_173626.4:c.1373T>C, NM_173626.3:c.1373T>C, XM_006721833.3:c.1445T>C, XM_006721833.2:c.1445T>C, XM_006721833.1:c.1445T>C, XM_017024507.2:c.1445T>C, XM_017024507.1:c.1445T>C, NM_001166347.2:c.1373T>C, NM_001166347.1:c.1373T>C, NM_001166348.2:c.1373T>C, NM_001166348.1:c.1373T>C, XM_017024505.2:c.1445T>C, XM_017024505.1:c.1643T>C, NM_001166349.2:c.1373T>C, NM_001166349.1:c.1373T>C, XM_047435806.1:c.1373T>C, XM_047435807.1:c.950T>C, XM_047435808.1:c.878T>C, NP_775897.3:p.Leu458Pro, XP_006721896.1:p.Leu482Pro, XP_016879996.1:p.Leu482Pro, NP_001159819.1:p.Leu458Pro, NP_001159820.1:p.Leu458Pro, XP_016879994.2:p.Leu482Pro, NP_001159821.1:p.Leu458Pro, XP_047291762.1:p.Leu458Pro, XP_047291763.1:p.Leu317Pro, XP_047291764.1:p.Leu293Pro

Select item 147151722820.

rs1471517228 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:80241819 (GRCh38)
17:78215618 (GRCh37)
Canonical SPDI:: NC_000017.11:80241818:T:C
Gene:: SLC26A11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.80241819T>C, NC_000017.10:g.78215618T>C, NM_173626.4:c.1034T>C, NM_173626.3:c.1034T>C, XM_006721833.3:c.1106T>C, XM_006721833.2:c.1106T>C, XM_006721833.1:c.1106T>C, XM_017024507.2:c.1106T>C, XM_017024507.1:c.1106T>C, NM_001166347.2:c.1034T>C, NM_001166347.1:c.1034T>C, NM_001166348.2:c.1034T>C, NM_001166348.1:c.1034T>C, XM_017024505.2:c.1106T>C, XM_017024505.1:c.1304T>C, NM_001166349.2:c.1034T>C, NM_001166349.1:c.1034T>C, XM_047435806.1:c.1034T>C, XM_047435807.1:c.611T>C, XM_047435808.1:c.539T>C, NP_775897.3:p.Ile345Thr, XP_006721896.1:p.Ile369Thr, XP_016879996.1:p.Ile369Thr, NP_001159819.1:p.Ile345Thr, NP_001159820.1:p.Ile345Thr, XP_016879994.2:p.Ile369Thr, NP_001159821.1:p.Ile345Thr, XP_047291762.1:p.Ile345Thr, XP_047291763.1:p.Ile204Thr, XP_047291764.1:p.Ile180Thr

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Result Filters

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Items: 1 to 20 of 767

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