S4R255 · S4R255_MOUSE
- ProteinNitric oxide synthase
- GeneNos1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids1425 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388778053 | 30 | F>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.118005370T>A Codon: TTC/TAC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118005370T>A Locations: - p.Phe30Tyr (Ensembl:ENSMUST00000086451) - c.89T>A (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388785369 | 56 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.118005448G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118005448G>T Locations: - p.Gly56Val (Ensembl:ENSMUST00000086451) - c.167G>T (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3396119493 | 58 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.118005454T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118005454T>C Locations: - p.Ile58Thr (Ensembl:ENSMUST00000086451) - c.173T>C (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3395405532 | 60 | A>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.118005460C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118005460C>A Locations: - p.Ala60Asp (Ensembl:ENSMUST00000086451) - c.179C>A (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3396125543 | 87 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.118005541T>A Codon: ATT/AAT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118005541T>A Locations: - p.Ile87Asn (Ensembl:ENSMUST00000086451) - c.260T>A (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3396059990 | 89 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000071.7:g.118005546T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118005546T>C Locations: - p.Ser89Pro (Ensembl:ENSMUST00000086451) - c.265T>C (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3395853419 | 91 | T>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000071.7:g.118005553C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118005553C>A Locations: - p.Thr91Asn (Ensembl:ENSMUST00000086451) - c.272C>A (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388778402 | 98 | R>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000071.7:g.118005573A>T Codon: AGA/TGA Consequence type: stop gained Cytogenetic band: 5q Genomic location: NC_000071.7:g.118005573A>T Locations: - p.Arg98Ter (Ensembl:ENSMUST00000086451) - c.292A>T (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388778441 | 108 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.118005604A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118005604A>T Locations: - p.Glu108Val (Ensembl:ENSMUST00000086451) - c.323A>T (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388756752 | 111 | F>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.118005612T>G Codon: TTC/GTC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118005612T>G Locations: - p.Phe111Val (Ensembl:ENSMUST00000086451) - c.331T>G (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388767321 | 117 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000071.7:g.118005631C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118005631C>T Locations: - p.Pro117Leu (Ensembl:ENSMUST00000086451) - c.350C>T (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3395719675 | 129 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000071.7:g.118005666C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118005666C>T Locations: - p.Pro129Ser (Ensembl:ENSMUST00000086451) - c.385C>T (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs216544184 | 162 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.76) Somatic: No Accession: NC_000071.7:g.118005765G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118005765G>A Locations: - p.Ala162Thr (Ensembl:ENSMUST00000086451) - c.484G>A (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs239031059 | 165 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000071.7:g.118005775G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118005775G>A Locations: - p.Arg165His (Ensembl:ENSMUST00000086451) - c.494G>A (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3395405511 | 170 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.34) Somatic: No Accession: NC_000071.7:g.118005790G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118005790G>A Locations: - p.Gly170Asp (Ensembl:ENSMUST00000086451) - c.509G>A (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388781783 | 179 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.7) Somatic: No Accession: NC_000071.7:g.118005817C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118005817C>T Locations: - p.Ala179Val (Ensembl:ENSMUST00000086451) - c.536C>T (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388785389 | 181 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000071.7:g.118005824C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118005824C>A Locations: - p.Asp181Glu (Ensembl:ENSMUST00000086451) - c.543C>A (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3396002407 | 184 | M>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.54) Somatic: No Accession: NC_000071.7:g.118005832T>G Codon: ATG/AGG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118005832T>G Locations: - p.Met184Arg (Ensembl:ENSMUST00000086451) - c.551T>G (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388778006 | 211 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000071.7:g.118005912C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118005912C>T Locations: - p.Leu211Phe (Ensembl:ENSMUST00000086451) - c.631C>T (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388780193 | 225 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000071.7:g.118005955A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118005955A>G Locations: - p.Lys225Arg (Ensembl:ENSMUST00000086451) - c.674A>G (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388784763 | 235 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.118005984G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118005984G>A Locations: - p.Val235Met (Ensembl:ENSMUST00000086451) - c.703G>A (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs240837951 | 240 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.85) Somatic: No Accession: NC_000071.7:g.118017358C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118017358C>A Locations: - p.Asp240Glu (Ensembl:ENSMUST00000086451) - c.720C>A (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs253948921 | 243 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.55) Somatic: No Accession: NC_000071.7:g.118017366T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118017366T>C Locations: - p.Leu243Pro (Ensembl:ENSMUST00000086451) - c.728T>C (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388777973 | 245 | K>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000071.7:g.118017372A>T Codon: AAA/ATA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118017372A>T Locations: - p.Lys245Ile (Ensembl:ENSMUST00000086451) - c.734A>T (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs239776977 | 266 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000071.7:g.118017434G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118017434G>A Locations: - p.Val266Ile (Ensembl:ENSMUST00000086451) - c.796G>A (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs248258433 | 282 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: NC_000071.7:g.118031897G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118031897G>A Locations: - p.Ala282Thr (Ensembl:ENSMUST00000086451) - c.844G>A (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388774694 | 289 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000071.7:g.118031919C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118031919C>G Locations: - p.Thr289Ser (Ensembl:ENSMUST00000086451) - c.866C>G (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388785336 | 302 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000071.7:g.118031957A>T Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 5q Genomic location: NC_000071.7:g.118031957A>T Locations: - p.Lys302Ter (Ensembl:ENSMUST00000086451) - c.904A>T (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs261876246 | 329 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NC_000071.7:g.118033866G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118033866G>C Locations: - p.Gln329His (Ensembl:ENSMUST00000086451) - c.987G>C (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388780196 | 342 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000071.7:g.118033903A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118033903A>G Locations: - p.Ile342Val (Ensembl:ENSMUST00000086451) - c.1024A>G (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388771018 | 343 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000071.7:g.118033907G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118033907G>A Locations: - p.Arg343Gln (Ensembl:ENSMUST00000086451) - c.1028G>A (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388786331 | 347 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.79) Somatic: No Accession: NC_000071.7:g.118033920T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118033920T>A Locations: - p.Asp347Glu (Ensembl:ENSMUST00000086451) - c.1041T>A (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs236121422 | 363 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000071.7:g.118033966G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118033966G>A Locations: - p.Asp363Asn (Ensembl:ENSMUST00000086451) - c.1087G>A (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388778047 | 438 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.118035814G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118035814G>A Locations: - p.Met438Ile (Ensembl:ENSMUST00000086451) - c.1314G>A (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3396058605 | 452 | K>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.118035855A>C Codon: AAA/ACA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118035855A>C Locations: - p.Lys452Thr (Ensembl:ENSMUST00000086451) - c.1355A>C (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388756761 | 454 | N>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.118035860A>C Codon: AAC/CAC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118035860A>C Locations: - p.Asn454His (Ensembl:ENSMUST00000086451) - c.1360A>C (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388756761 | 454 | N>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.118035860A>T Codon: AAC/TAC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118035860A>T Locations: - p.Asn454Tyr (Ensembl:ENSMUST00000086451) - c.1360A>T (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388785379 | 468 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000071.7:g.118038571G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118038571G>A Locations: - p.Gly468Asp (Ensembl:ENSMUST00000086451) - c.1403G>A (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388785379 | 468 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000071.7:g.118038571G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118038571G>T Locations: - p.Gly468Val (Ensembl:ENSMUST00000086451) - c.1403G>T (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3395713683 | 511 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000071.7:g.118041909A>T Codon: AAA/AAT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118041909A>T Locations: - p.Lys511Asn (Ensembl:ENSMUST00000086451) - c.1533A>T (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388780190 | 553 | W>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000071.7:g.118043385G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 5q Genomic location: NC_000071.7:g.118043385G>A Locations: - p.Trp553Ter (Ensembl:ENSMUST00000086451) - c.1659G>A (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388790136 | 566 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.118043422G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118043422G>A Locations: - p.Ala566Thr (Ensembl:ENSMUST00000086451) - c.1696G>A (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388790202 | 632 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.118046125A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118046125A>T Locations: - p.Glu632Val (Ensembl:ENSMUST00000086451) - c.1895A>T (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388770951 | 664 | N>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.118048187A>C Codon: AAT/ACT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118048187A>C Locations: - p.Asn664Thr (Ensembl:ENSMUST00000086451) - c.1991A>C (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388781760 | 709 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.118048835G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118048835G>A Locations: - p.Asp709Asn (Ensembl:ENSMUST00000086451) - c.2125G>A (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3412865602 | 714 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.118048852C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118048852C>A Locations: - p.His714Gln (Ensembl:ENSMUST00000086451) - c.2142C>A (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388790181 | 744 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.118050810C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118050810C>G Locations: - p.Leu744Val (Ensembl:ENSMUST00000086451) - c.2230C>G (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388784913 | 761 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.118050862C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118050862C>T Locations: - p.Thr761Ile (Ensembl:ENSMUST00000086451) - c.2282C>T (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3396040094 | 836 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.118052497G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118052497G>A Locations: - p.Glu836Lys (Ensembl:ENSMUST00000086451) - c.2506G>A (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388790154 | 837 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.73) Somatic: No Accession: NC_000071.7:g.118052502G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118052502G>T Locations: - p.Glu837Asp (Ensembl:ENSMUST00000086451) - c.2511G>T (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388786593 | 848 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.118057486G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118057486G>A Locations: - p.Val848Ile (Ensembl:ENSMUST00000086451) - c.2542G>A (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3412207557 | 850 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.118057493C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118057493C>T Locations: - p.Ser850Phe (Ensembl:ENSMUST00000086451) - c.2549C>T (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388786578 | 856 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.118057512G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118057512G>C Locations: - p.Lys856Asn (Ensembl:ENSMUST00000086451) - c.2568G>C (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388780208 | 865 | R>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.118057538G>T Codon: AGA/ATA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118057538G>T Locations: - p.Arg865Ile (Ensembl:ENSMUST00000086451) - c.2594G>T (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3396231713 | 976 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000071.7:g.118063796G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 5q Genomic location: NC_000071.7:g.118063796G>T Locations: - p.Glu976Ter (Ensembl:ENSMUST00000086451) - c.2926G>T (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388777995 | 997 | L>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.118064560T>A Codon: CTC/CAC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118064560T>A Locations: - p.Leu997His (Ensembl:ENSMUST00000086451) - c.2990T>A (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388786637 | 1005 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000071.7:g.118064584G>T Codon: AGT/ATT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118064584G>T Locations: - p.Ser1005Ile (Ensembl:ENSMUST00000086451) - c.3014G>T (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388790210 | 1020 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000071.7:g.118074516A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118074516A>G Locations: - p.Asn1020Ser (Ensembl:ENSMUST00000086451) - c.3059A>G (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388778011 | 1037 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.118074567C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118074567C>T Locations: - p.Pro1037Leu (Ensembl:ENSMUST00000086451) - c.3110C>T (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388786326 | 1051 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.118074608C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118074608C>A Locations: - p.Leu1051Met (Ensembl:ENSMUST00000086451) - c.3151C>A (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs39803852 | 1060 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000071.7:g.118074635G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118074635G>A Locations: - p.Val1060Met (Ensembl:ENSMUST00000086451) - c.3178G>A (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388774706 | 1064 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.118074649A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118074649A>C Locations: - p.Glu1064Asp (Ensembl:ENSMUST00000086451) - c.3192A>C (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388756754 | 1072 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.118074671G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118074671G>T Locations: - p.Ala1072Ser (Ensembl:ENSMUST00000086451) - c.3214G>T (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388780227 | 1200 | R>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000071.7:g.118081398G>T Codon: CGA/CTA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118081398G>T Locations: - p.Arg1200Leu (Ensembl:ENSMUST00000086451) - c.3599G>T (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388786795 | 1275 | C>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000071.7:g.118085498C>A Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 5q Genomic location: NC_000071.7:g.118085498C>A Locations: - p.Cys1275Ter (Ensembl:ENSMUST00000086451) - c.3825C>A (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388780223 | 1278 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000071.7:g.118085505G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118085505G>A Locations: - p.Val1278Ile (Ensembl:ENSMUST00000086451) - c.3832G>A (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388786639 | 1339 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.118087754T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118087754T>C Locations: - p.Leu1339Pro (Ensembl:ENSMUST00000086451) - c.4016T>C (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3396120992 | 1350 | G>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.118087786G>T Codon: GGG/TGG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118087786G>T Locations: - p.Gly1350Trp (Ensembl:ENSMUST00000086451) - c.4048G>T (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3396066291 | 1351 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.118087790A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118087790A>T Locations: - p.Asp1351Val (Ensembl:ENSMUST00000086451) - c.4052A>T (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388787160 | 1360 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.118087818A>T Codon: AAA/AAT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118087818A>T Locations: - p.Lys1360Asn (Ensembl:ENSMUST00000086451) - c.4080A>T (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: | |||||||
rs3388770978 | 1405 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.118090887A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.118090887A>T Locations: - p.Thr1405Ser (Ensembl:ENSMUST00000086451) - c.4213A>T (Ensembl:ENSMUST00000086451) Source type: large scale study Cross-references: |