SNP Links for Protein (Select 566559795) - SNP

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Links from Protein

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Select item 14698881921.

rs1469888192 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:101316350 (GRCh38)
7:100959631 (GRCh37)
Canonical SPDI:: NC_000007.14:101316349:G:T
Gene:: IFT22 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.101316350G>T, NC_000007.13:g.100959631G>T, NM_022777.4:c.399C>A, NM_022777.3:c.399C>A, NM_022777.2:c.399C>A, NM_001130821.3:c.168C>A, NM_001130821.2:c.168C>A, NM_001130821.1:c.168C>A, NM_001130822.3:c.168C>A, NM_001130822.2:c.168C>A, NM_001130822.1:c.168C>A, NM_001130820.3:c.309C>A, NM_001130820.2:c.309C>A, NM_001130820.1:c.309C>A, NM_001287525.2:c.168C>A, NM_001287525.1:c.168C>A, NM_001287526.1:c.168C>A, NP_073614.1:p.Ser133Arg, NP_001124293.1:p.Ser56Arg, NP_001124294.1:p.Ser56Arg, NP_001124292.1:p.Ser103Arg, NP_001274454.1:p.Ser56Arg, NP_001274455.1:p.Ser56Arg

Select item 14629036022.

rs1462903602 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:101316513 (GRCh38)
7:100959794 (GRCh37)
Canonical SPDI:: NC_000007.14:101316512:T:C
Gene:: IFT22 (Varview)
Functional Consequence:: missense_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_000007.14:g.101316513T>C, NC_000007.13:g.100959794T>C, NM_022777.4:c.236A>G, NM_022777.3:c.236A>G, NM_022777.2:c.236A>G, NM_001130821.3:c.5A>G, NM_001130821.2:c.5A>G, NM_001130821.1:c.5A>G, NM_001130822.3:c.5A>G, NM_001130822.2:c.5A>G, NM_001130822.1:c.5A>G, NM_001130820.3:c.146A>G, NM_001130820.2:c.146A>G, NM_001130820.1:c.146A>G, NM_001287525.2:c.5A>G, NM_001287525.1:c.5A>G, NM_001287526.1:c.5A>G, NP_073614.1:p.Lys79Arg, NP_001124293.1:p.Lys2Arg, NP_001124294.1:p.Lys2Arg, NP_001124292.1:p.Lys49Arg, NP_001274454.1:p.Lys2Arg, NP_001274455.1:p.Lys2Arg

Select item 14607028583.

rs1460702858 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:101315225 (GRCh38)
7:100958506 (GRCh37)
Canonical SPDI:: NC_000007.14:101315224:T:C
Gene:: IFT22 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.101315225T>C, NC_000007.13:g.100958506T>C, NM_022777.4:c.467A>G, NM_022777.3:c.467A>G, NM_022777.2:c.467A>G, NM_001130821.3:c.236A>G, NM_001130821.2:c.236A>G, NM_001130821.1:c.236A>G, NM_001130822.3:c.236A>G, NM_001130822.2:c.236A>G, NM_001130822.1:c.236A>G, NM_001130820.3:c.377A>G, NM_001130820.2:c.377A>G, NM_001130820.1:c.377A>G, NM_001287525.2:c.236A>G, NM_001287525.1:c.236A>G, NM_001287526.1:c.236A>G, NP_073614.1:p.Glu156Gly, NP_001124293.1:p.Glu79Gly, NP_001124294.1:p.Glu79Gly, NP_001124292.1:p.Glu126Gly, NP_001274454.1:p.Glu79Gly, NP_001274455.1:p.Glu79Gly

Select item 14601439164.

rs1460143916 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:101316501 (GRCh38)
7:100959782 (GRCh37)
Canonical SPDI:: NC_000007.14:101316500:C:G
Gene:: IFT22 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.101316501C>G, NC_000007.13:g.100959782C>G, NM_022777.4:c.248G>C, NM_022777.3:c.248G>C, NM_022777.2:c.248G>C, NM_001130821.3:c.17G>C, NM_001130821.2:c.17G>C, NM_001130821.1:c.17G>C, NM_001130822.3:c.17G>C, NM_001130822.2:c.17G>C, NM_001130822.1:c.17G>C, NM_001130820.3:c.158G>C, NM_001130820.2:c.158G>C, NM_001130820.1:c.158G>C, NM_001287525.2:c.17G>C, NM_001287525.1:c.17G>C, NM_001287526.1:c.17G>C, NP_073614.1:p.Gly83Ala, NP_001124293.1:p.Gly6Ala, NP_001124294.1:p.Gly6Ala, NP_001124292.1:p.Gly53Ala, NP_001274454.1:p.Gly6Ala, NP_001274455.1:p.Gly6Ala

Select item 14537364395.

rs1453736439 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:101316491 (GRCh38)
7:100959772 (GRCh37)
Canonical SPDI:: NC_000007.14:101316490:G:A
Gene:: IFT22 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.101316491G>A, NC_000007.13:g.100959772G>A, NM_022777.4:c.258C>T, NM_022777.3:c.258C>T, NM_022777.2:c.258C>T, NM_001130821.3:c.27C>T, NM_001130821.2:c.27C>T, NM_001130821.1:c.27C>T, NM_001130822.3:c.27C>T, NM_001130822.2:c.27C>T, NM_001130822.1:c.27C>T, NM_001130820.3:c.168C>T, NM_001130820.2:c.168C>T, NM_001130820.1:c.168C>T, NM_001287525.2:c.27C>T, NM_001287525.1:c.27C>T, NM_001287526.1:c.27C>T

Select item 14508304186.

rs1450830418 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:101315272 (GRCh38)
7:100958553 (GRCh37)
Canonical SPDI:: NC_000007.14:101315271:C:T
Gene:: IFT22 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.101315272C>T, NC_000007.13:g.100958553C>T, NM_022777.4:c.420G>A, NM_022777.3:c.420G>A, NM_022777.2:c.420G>A, NM_001130821.3:c.189G>A, NM_001130821.2:c.189G>A, NM_001130821.1:c.189G>A, NM_001130822.3:c.189G>A, NM_001130822.2:c.189G>A, NM_001130822.1:c.189G>A, NM_001130820.3:c.330G>A, NM_001130820.2:c.330G>A, NM_001130820.1:c.330G>A, NM_001287525.2:c.189G>A, NM_001287525.1:c.189G>A, NM_001287526.1:c.189G>A

Select item 14359619997.

rs1435961999 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:101315181 (GRCh38)
7:100958462 (GRCh37)
Canonical SPDI:: NC_000007.14:101315180:A:G
Gene:: IFT22 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.101315181A>G, NC_000007.13:g.100958462A>G, NM_022777.4:c.511T>C, NM_022777.3:c.511T>C, NM_022777.2:c.511T>C, NM_001130821.3:c.280T>C, NM_001130821.2:c.280T>C, NM_001130821.1:c.280T>C, NM_001130822.3:c.280T>C, NM_001130822.2:c.280T>C, NM_001130822.1:c.280T>C, NM_001130820.3:c.421T>C, NM_001130820.2:c.421T>C, NM_001130820.1:c.421T>C, NM_001287525.2:c.280T>C, NM_001287525.1:c.280T>C, NM_001287526.1:c.280T>C, NP_073614.1:p.Ser171Pro, NP_001124293.1:p.Ser94Pro, NP_001124294.1:p.Ser94Pro, NP_001124292.1:p.Ser141Pro, NP_001274454.1:p.Ser94Pro, NP_001274455.1:p.Ser94Pro

Select item 14260473358.

rs1426047335 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:101316371 (GRCh38)
7:100959652 (GRCh37)
Canonical SPDI:: NC_000007.14:101316370:G:C
Gene:: IFT22 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.101316371G>C, NC_000007.13:g.100959652G>C, NM_022777.4:c.378C>G, NM_022777.3:c.378C>G, NM_022777.2:c.378C>G, NM_001130821.3:c.147C>G, NM_001130821.2:c.147C>G, NM_001130821.1:c.147C>G, NM_001130822.3:c.147C>G, NM_001130822.2:c.147C>G, NM_001130822.1:c.147C>G, NM_001130820.3:c.288C>G, NM_001130820.2:c.288C>G, NM_001130820.1:c.288C>G, NM_001287525.2:c.147C>G, NM_001287525.1:c.147C>G, NM_001287526.1:c.147C>G

Select item 14218271089.

rs1421827108 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:101315154 (GRCh38)
7:100958435 (GRCh37)
Canonical SPDI:: NC_000007.14:101315153:C:T
Gene:: IFT22 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.101315154C>T, NC_000007.13:g.100958435C>T, NM_022777.4:c.538G>A, NM_022777.3:c.538G>A, NM_022777.2:c.538G>A, NM_001130821.3:c.307G>A, NM_001130821.2:c.307G>A, NM_001130821.1:c.307G>A, NM_001130822.3:c.307G>A, NM_001130822.2:c.307G>A, NM_001130822.1:c.307G>A, NM_001130820.3:c.448G>A, NM_001130820.2:c.448G>A, NM_001130820.1:c.448G>A, NM_001287525.2:c.307G>A, NM_001287525.1:c.307G>A, NM_001287526.1:c.307G>A, NP_073614.1:p.Glu180Lys, NP_001124293.1:p.Glu103Lys, NP_001124294.1:p.Glu103Lys, NP_001124292.1:p.Glu150Lys, NP_001274454.1:p.Glu103Lys, NP_001274455.1:p.Glu103Lys

Select item 142047052910.

rs1420470529 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:101315157 (GRCh38)
7:100958438 (GRCh37)
Canonical SPDI:: NC_000007.14:101315156:C:G
Gene:: IFT22 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000084/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.101315157C>G, NC_000007.13:g.100958438C>G, NM_022777.4:c.535G>C, NM_022777.3:c.535G>C, NM_022777.2:c.535G>C, NM_001130821.3:c.304G>C, NM_001130821.2:c.304G>C, NM_001130821.1:c.304G>C, NM_001130822.3:c.304G>C, NM_001130822.2:c.304G>C, NM_001130822.1:c.304G>C, NM_001130820.3:c.445G>C, NM_001130820.2:c.445G>C, NM_001130820.1:c.445G>C, NM_001287525.2:c.304G>C, NM_001287525.1:c.304G>C, NM_001287526.1:c.304G>C, NP_073614.1:p.Glu179Gln, NP_001124293.1:p.Glu102Gln, NP_001124294.1:p.Glu102Gln, NP_001124292.1:p.Glu149Gln, NP_001274454.1:p.Glu102Gln, NP_001274455.1:p.Glu102Gln

Select item 140581132711.

rs1405811327 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:101315269 (GRCh38)
7:100958550 (GRCh37)
Canonical SPDI:: NC_000007.14:101315268:G:C
Gene:: IFT22 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.101315269G>C, NC_000007.13:g.100958550G>C, NM_022777.4:c.423C>G, NM_022777.3:c.423C>G, NM_022777.2:c.423C>G, NM_001130821.3:c.192C>G, NM_001130821.2:c.192C>G, NM_001130821.1:c.192C>G, NM_001130822.3:c.192C>G, NM_001130822.2:c.192C>G, NM_001130822.1:c.192C>G, NM_001130820.3:c.333C>G, NM_001130820.2:c.333C>G, NM_001130820.1:c.333C>G, NM_001287525.2:c.192C>G, NM_001287525.1:c.192C>G, NM_001287526.1:c.192C>G, NP_073614.1:p.Asn141Lys, NP_001124293.1:p.Asn64Lys, NP_001124294.1:p.Asn64Lys, NP_001124292.1:p.Asn111Lys, NP_001274454.1:p.Asn64Lys, NP_001274455.1:p.Asn64Lys

Select item 138744000912.

rs1387440009 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:101316443 (GRCh38)
7:100959724 (GRCh37)
Canonical SPDI:: NC_000007.14:101316442:C:G
Gene:: IFT22 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.101316443C>G, NC_000007.13:g.100959724C>G, NM_022777.4:c.306G>C, NM_022777.3:c.306G>C, NM_022777.2:c.306G>C, NM_001130821.3:c.75G>C, NM_001130821.2:c.75G>C, NM_001130821.1:c.75G>C, NM_001130822.3:c.75G>C, NM_001130822.2:c.75G>C, NM_001130822.1:c.75G>C, NM_001130820.3:c.216G>C, NM_001130820.2:c.216G>C, NM_001130820.1:c.216G>C, NM_001287525.2:c.75G>C, NM_001287525.1:c.75G>C, NM_001287526.1:c.75G>C, NP_073614.1:p.Trp102Cys, NP_001124293.1:p.Trp25Cys, NP_001124294.1:p.Trp25Cys, NP_001124292.1:p.Trp72Cys, NP_001274454.1:p.Trp25Cys, NP_001274455.1:p.Trp25Cys

Select item 138559775313.

rs1385597753 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:101315142 (GRCh38)
7:100958423 (GRCh37)
Canonical SPDI:: NC_000007.14:101315141:T:A
Gene:: IFT22 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.101315142T>A, NC_000007.13:g.100958423T>A, NM_022777.4:c.550A>T, NM_022777.3:c.550A>T, NM_022777.2:c.550A>T, NM_001130821.3:c.319A>T, NM_001130821.2:c.319A>T, NM_001130821.1:c.319A>T, NM_001130822.3:c.319A>T, NM_001130822.2:c.319A>T, NM_001130822.1:c.319A>T, NM_001130820.3:c.460A>T, NM_001130820.2:c.460A>T, NM_001130820.1:c.460A>T, NM_001287525.2:c.319A>T, NM_001287525.1:c.319A>T, NM_001287526.1:c.319A>T, NP_073614.1:p.Met184Leu, NP_001124293.1:p.Met107Leu, NP_001124294.1:p.Met107Leu, NP_001124292.1:p.Met154Leu, NP_001274454.1:p.Met107Leu, NP_001274455.1:p.Met107Leu

Select item 137313797914.

rs1373137979 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:101316514 (GRCh38)
7:100959795 (GRCh37)
Canonical SPDI:: NC_000007.14:101316513:T:G
Gene:: IFT22 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.101316514T>G, NC_000007.13:g.100959795T>G, NM_022777.4:c.235A>C, NM_022777.3:c.235A>C, NM_022777.2:c.235A>C, NM_001130821.3:c.4A>C, NM_001130821.2:c.4A>C, NM_001130821.1:c.4A>C, NM_001130822.3:c.4A>C, NM_001130822.2:c.4A>C, NM_001130822.1:c.4A>C, NM_001130820.3:c.145A>C, NM_001130820.2:c.145A>C, NM_001130820.1:c.145A>C, NM_001287525.2:c.4A>C, NM_001287525.1:c.4A>C, NM_001287526.1:c.4A>C, NP_073614.1:p.Lys79Gln, NP_001124293.1:p.Lys2Gln, NP_001124294.1:p.Lys2Gln, NP_001124292.1:p.Lys49Gln, NP_001274454.1:p.Lys2Gln, NP_001274455.1:p.Lys2Gln

Select item 136480254515.

rs1364802545 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGGC [Show Flanks]
Chromosome:: 7:101316346 (GRCh38)
7:100959628 (GRCh37)
Canonical SPDI:: NC_000007.14:101316346:CAGGC:CAGGCAGGC
Gene:: IFT22 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: CAGGCAGGC=0.0001/1 (ALFA)
HGVS:: NC_000007.14:g.101316348_101316351dup, NC_000007.13:g.100959629_100959632dup, NM_022777.4:c.399_402dup, NM_022777.3:c.399_402dup, NM_022777.2:c.399_402dup, NM_001130821.3:c.168_171dup, NM_001130821.2:c.168_171dup, NM_001130821.1:c.168_171dup, NM_001130822.3:c.168_171dup, NM_001130822.2:c.168_171dup, NM_001130822.1:c.168_171dup, NM_001130820.3:c.309_312dup, NM_001130820.2:c.309_312dup, NM_001130820.1:c.309_312dup, NM_001287525.2:c.168_171dup, NM_001287525.1:c.168_171dup, NM_001287526.1:c.168_171dup, NP_073614.1:p.Ser135fs, NP_001124293.1:p.Ser58fs, NP_001124294.1:p.Ser58fs, NP_001124292.1:p.Ser105fs, NP_001274454.1:p.Ser58fs, NP_001274455.1:p.Ser58fs

Select item 136060614216.

rs1360606142 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:101316442 (GRCh38)
7:100959723 (GRCh37)
Canonical SPDI:: NC_000007.14:101316441:A:G
Gene:: IFT22 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.101316442A>G, NC_000007.13:g.100959723A>G, NM_022777.4:c.307T>C, NM_022777.3:c.307T>C, NM_022777.2:c.307T>C, NM_001130821.3:c.76T>C, NM_001130821.2:c.76T>C, NM_001130821.1:c.76T>C, NM_001130822.3:c.76T>C, NM_001130822.2:c.76T>C, NM_001130822.1:c.76T>C, NM_001130820.3:c.217T>C, NM_001130820.2:c.217T>C, NM_001130820.1:c.217T>C, NM_001287525.2:c.76T>C, NM_001287525.1:c.76T>C, NM_001287526.1:c.76T>C, NP_073614.1:p.Tyr103His, NP_001124293.1:p.Tyr26His, NP_001124294.1:p.Tyr26His, NP_001124292.1:p.Tyr73His, NP_001274454.1:p.Tyr26His, NP_001274455.1:p.Tyr26His

Select item 133785118617.

rs1337851186 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:101315170 (GRCh38)
7:100958451 (GRCh37)
Canonical SPDI:: NC_000007.14:101315169:C:T
Gene:: IFT22 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000007.14:g.101315170C>T, NC_000007.13:g.100958451C>T, NM_022777.4:c.522G>A, NM_022777.3:c.522G>A, NM_022777.2:c.522G>A, NM_001130821.3:c.291G>A, NM_001130821.2:c.291G>A, NM_001130821.1:c.291G>A, NM_001130822.3:c.291G>A, NM_001130822.2:c.291G>A, NM_001130822.1:c.291G>A, NM_001130820.3:c.432G>A, NM_001130820.2:c.432G>A, NM_001130820.1:c.432G>A, NM_001287525.2:c.291G>A, NM_001287525.1:c.291G>A, NM_001287526.1:c.291G>A

Select item 133613900118.

rs1336139001 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:101316395 (GRCh38)
7:100959676 (GRCh37)
Canonical SPDI:: NC_000007.14:101316394:C:T
Gene:: IFT22 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.101316395C>T, NC_000007.13:g.100959676C>T, NM_022777.4:c.354G>A, NM_022777.3:c.354G>A, NM_022777.2:c.354G>A, NM_001130821.3:c.123G>A, NM_001130821.2:c.123G>A, NM_001130821.1:c.123G>A, NM_001130822.3:c.123G>A, NM_001130822.2:c.123G>A, NM_001130822.1:c.123G>A, NM_001130820.3:c.264G>A, NM_001130820.2:c.264G>A, NM_001130820.1:c.264G>A, NM_001287525.2:c.123G>A, NM_001287525.1:c.123G>A, NM_001287526.1:c.123G>A, NP_073614.1:p.Met118Ile, NP_001124293.1:p.Met41Ile, NP_001124294.1:p.Met41Ile, NP_001124292.1:p.Met88Ile, NP_001274454.1:p.Met41Ile, NP_001274455.1:p.Met41Ile

Select item 133181289219.

rs1331812892 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:101315277 (GRCh38)
7:100958558 (GRCh37)
Canonical SPDI:: NC_000007.14:101315276:G:A
Gene:: IFT22 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.101315277G>A, NC_000007.13:g.100958558G>A, NM_022777.4:c.415C>T, NM_022777.3:c.415C>T, NM_022777.2:c.415C>T, NM_001130821.3:c.184C>T, NM_001130821.2:c.184C>T, NM_001130821.1:c.184C>T, NM_001130822.3:c.184C>T, NM_001130822.2:c.184C>T, NM_001130822.1:c.184C>T, NM_001130820.3:c.325C>T, NM_001130820.2:c.325C>T, NM_001130820.1:c.325C>T, NM_001287525.2:c.184C>T, NM_001287525.1:c.184C>T, NM_001287526.1:c.184C>T, NP_073614.1:p.Pro139Ser, NP_001124293.1:p.Pro62Ser, NP_001124294.1:p.Pro62Ser, NP_001124292.1:p.Pro109Ser, NP_001274454.1:p.Pro62Ser, NP_001274455.1:p.Pro62Ser

Select item 132878869320.

rs1328788693 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:101315163 (GRCh38)
7:100958444 (GRCh37)
Canonical SPDI:: NC_000007.14:101315162:C:G
Gene:: IFT22 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.101315163C>G, NC_000007.13:g.100958444C>G, NM_022777.4:c.529G>C, NM_022777.3:c.529G>C, NM_022777.2:c.529G>C, NM_001130821.3:c.298G>C, NM_001130821.2:c.298G>C, NM_001130821.1:c.298G>C, NM_001130822.3:c.298G>C, NM_001130822.2:c.298G>C, NM_001130822.1:c.298G>C, NM_001130820.3:c.439G>C, NM_001130820.2:c.439G>C, NM_001130820.1:c.439G>C, NM_001287525.2:c.298G>C, NM_001287525.1:c.298G>C, NM_001287526.1:c.298G>C, NP_073614.1:p.Asp177His, NP_001124293.1:p.Asp100His, NP_001124294.1:p.Asp100His, NP_001124292.1:p.Asp147His, NP_001274454.1:p.Asp100His, NP_001274455.1:p.Asp100His

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