D6REE5 · D6REE5_HUMAN
- ProteinSmall ribosomal subunit protein RACK1
- GeneRACK1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids321 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1400750029 | 3 | E>K | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000005.10:g.181243794C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181243794C>T Locations: - p.Glu3Lys (Ensembl:ENST00000512968) - c.7G>A (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs11540191 | 6 | T>A | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000005.10:g.181243785T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181243785T>C Locations: - p.Thr6Ala (Ensembl:ENST00000512968) - c.16A>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1759447788 | 6 | T>I | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000005.10:g.181243784G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181243784G>A Locations: - p.Thr6Ile (Ensembl:ENST00000512968) - c.17C>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs866495306 | 9 | G>D | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000005.10:g.181243775C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181243775C>T Locations: - p.Gly9Asp (Ensembl:ENST00000512968) - c.26G>A (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1300904797 | 15 | N>D | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000005.10:g.181243758T>C Codon: AAC/GAC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181243758T>C Locations: - p.Asn15Asp (Ensembl:ENST00000512968) - c.43A>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs745953408 | 18 | V>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000005.10:g.181243748A>G Codon: GTA/GCA Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181243748A>G Locations: - p.Val18Ala (Ensembl:ENST00000512968) - c.53T>C (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs745953408 | 18 | V>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181243748A>C Codon: GTA/GGA Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181243748A>C Locations: - p.Val18Gly (Ensembl:ENST00000512968) - c.53T>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1296622455 | 19 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181243745G>C Codon: ACC/AGC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181243745G>C Locations: - p.Thr19Ser (Ensembl:ENST00000512968) - c.56C>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1201455778 | 20 | Q>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181243743G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181243743G>C Locations: - p.Gln20Glu (Ensembl:ENST00000512968) - c.58C>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1287195125 | 21 | I>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181243738G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181243738G>C Locations: - p.Ile21Met (Ensembl:ENST00000512968) - c.63C>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs779081202 | 22 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000005.10:g.181243737C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181243737C>T Locations: - p.Ala22Thr (Ensembl:ENST00000512968) - c.64G>A (Ensembl:ENST00000512968) Source type: large scale study | |||||||
rs757617206 | 23 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000005.10:g.181243734T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181243734T>C Locations: - p.Thr23Ala (Ensembl:ENST00000512968) - c.67A>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1759446218 | 25 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000005.10:g.181243728G>C Codon: CCG/GCG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181243728G>C Locations: - p.Pro25Ala (Ensembl:ENST00000512968) - c.73C>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1759446218 | 25 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000005.10:g.181243728G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181243728G>A Locations: - p.Pro25Ser (Ensembl:ENST00000512968) - c.73C>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1156494573 | 28 | P>T | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000005.10:g.181243719G>T Codon: CCG/ACG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181243719G>T Locations: - p.Pro28Thr (Ensembl:ENST00000512968) - c.82C>A (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1759445862 | 31 | I>S | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000005.10:g.181243709A>C Codon: ATC/AGC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181243709A>C Locations: - p.Ile31Ser (Ensembl:ENST00000512968) - c.92T>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1464679422 | 37 | D>G | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000005.10:g.181242345T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181242345T>C Locations: - p.Asp37Gly (Ensembl:ENST00000512968) - c.110A>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1171222335 | 40 | I>T | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000005.10:g.181242336A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181242336A>G Locations: - p.Ile40Thr (Ensembl:ENST00000512968) - c.119T>C (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
COSV65175820 rs893916495 | 40 | I>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.3) Somatic: Yes Accession: NC_000005.10:g.181242337T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181242337T>C Locations: - p.I40V (NCI-TCGA:ENST00000512968) - p.Ile40Val (Ensembl:ENST00000512968) - c.118A>G (Ensembl:ENST00000512968) Source type: large scale study | |||||||
rs750193394 | 41 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181242333A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181242333A>G Locations: - p.Ile41Thr (Ensembl:ENST00000512968) - c.122T>C (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1162126100 | 41 | I>V | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000005.10:g.181242334T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181242334T>C Locations: - p.Ile41Val (Ensembl:ENST00000512968) - c.121A>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1338604277 | 52 | Y>H | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181242301A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181242301A>G Locations: - p.Tyr52His (Ensembl:ENST00000512968) - c.154T>C (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs11540177 | 54 | I>T | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000005.10:g.181242294A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181242294A>G Locations: - p.Ile54Thr (Ensembl:ENST00000512968) - c.161T>C (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs11540167 | 54 | I>V | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.53) Somatic: No Accession: NC_000005.10:g.181242295T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181242295T>C Locations: - p.Ile54Val (Ensembl:ENST00000512968) - c.160A>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs753979165 | 55 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181242292G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181242292G>A Locations: - p.Pro55Ser (Ensembl:ENST00000512968) - c.163C>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs753979165 | 55 | P>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000005.10:g.181242292G>T Codon: CCA/ACA Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181242292G>T Locations: - p.Pro55Thr (Ensembl:ENST00000512968) - c.163C>A (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1002028942 | 58 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000005.10:g.181242282G>C Codon: GCT/GGT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181242282G>C Locations: - p.Ala58Gly (Ensembl:ENST00000512968) - c.173C>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs534105679 | 60 | R>G | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000005.10:g.181242277G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181242277G>C Locations: - p.Arg60Gly (Ensembl:ENST00000512968) - c.178C>G (Ensembl:ENST00000512968) Source type: large scale study | |||||||
rs1464273130 | 60 | R>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000005.10:g.181242276C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181242276C>A Locations: - p.Arg60Leu (Ensembl:ENST00000512968) - c.179G>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1464273130 | 60 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000005.10:g.181242276C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181242276C>T Locations: - p.Arg60Gln (Ensembl:ENST00000512968) - c.179G>A (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs759820556 | 62 | H>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181242271G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181242271G>A Locations: - p.His62Tyr (Ensembl:ENST00000512968) - c.184C>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs11540192 | 65 | F>L | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181242262A>G Codon: TTT/CTT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181242262A>G Locations: - p.Phe65Leu (Ensembl:ENST00000512968) - c.193T>C (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1759372735 | 69 | V>M | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000005.10:g.181242250C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181242250C>T Locations: - p.Val69Met (Ensembl:ENST00000512968) - c.205G>A (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs11540166 | 73 | S>L | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000005.10:g.181242237G>A Codon: TCA/TTA Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181242237G>A Locations: - p.Ser73Leu (Ensembl:ENST00000512968) - c.218C>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs11540172 | 74 | D>Y | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181242235C>A Codon: GAT/TAT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181242235C>A Locations: - p.Asp74Tyr (Ensembl:ENST00000512968) - c.220G>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1187305557 | 79 | L>F | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000005.10:g.181242220G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181242220G>A Locations: - p.Leu79Phe (Ensembl:ENST00000512968) - c.235C>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1582298892 | 88 | R>H | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181242192C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181242192C>T Locations: - p.Arg88His (Ensembl:ENST00000512968) - c.263G>A (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs11540188 | 92 | L>F | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181242181G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181242181G>A Locations: - p.Leu92Phe (Ensembl:ENST00000512968) - c.274C>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
COSV65175052 rs749806666 | 94 | T>I | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000005.10:g.181242174G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181242174G>A Locations: - p.Thr94Ile (Ensembl:ENST00000512968) - c.281C>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1759347264 | 96 | S>F | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000005.10:g.181241558G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181241558G>A Locations: - p.Ser96Phe (Ensembl:ENST00000512968) - c.287C>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs11540163 | 97 | L>P | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.27) Somatic: No Accession: NC_000005.10:g.181241555A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181241555A>G Locations: - p.Leu97Pro (Ensembl:ENST00000512968) - c.290T>C (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1759347134 | 98 | D>H | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000005.10:g.181241553C>G Codon: GGA/GCA Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181241553C>G Locations: - p.Asp98His (Ensembl:ENST00000512968) - c.292G>C (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs764463539 | 99 | L>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000005.10:g.181241549A>C Codon: CTC/CGC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181241549A>C Locations: - p.Leu99Arg (Ensembl:ENST00000512968) - c.296T>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1340622639 | 100 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.31) Somatic: No Accession: NC_000005.10:g.181241547C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181241547C>T Locations: - p.Glu100Lys (Ensembl:ENST00000512968) - c.298G>A (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs759081911 | 101 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000005.10:g.181241543A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181241543A>G Locations: - p.Ile101Thr (Ensembl:ENST00000512968) - c.302T>C (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs773788138 | 102 | K>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000005.10:g.181241541T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181241541T>C Locations: - p.Lys102Glu (Ensembl:ENST00000512968) - c.304A>G (Ensembl:ENST00000512968) Source type: large scale study | |||||||
rs1759346771 | 103 | P>L | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.78) Somatic: No Accession: NC_000005.10:g.181241537G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181241537G>A Locations: - p.Pro103Leu (Ensembl:ENST00000512968) - c.308C>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1759346721 | 107 | G>A | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000005.10:g.181241525C>G Codon: TGG/TGC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181241525C>G Locations: - p.Gly107Ala (Ensembl:ENST00000512968) - c.320G>C (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1759346671 | 108 | I>T | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000005.10:g.181241522A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181241522A>G Locations: - p.Ile108Thr (Ensembl:ENST00000512968) - c.323T>C (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1490217688 | 109 | P>L | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.77) Somatic: No Accession: NC_000005.10:g.181241519G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181241519G>A Locations: - p.Pro109Leu (Ensembl:ENST00000512968) - c.326C>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs374020184 | 110 | W>* | ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.181241516C>T Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181241516C>T Locations: - p.Trp110Ter (Ensembl:ENST00000512968) - c.329G>A (Ensembl:ENST00000512968) Source type: large scale study | |||||||
rs748931084 | 112 | C>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000005.10:g.181241510C>G Codon: TGT/TCT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181241510C>G Locations: - p.Cys112Ser (Ensembl:ENST00000512968) - c.335G>C (Ensembl:ENST00000512968) Source type: large scale study | |||||||
rs748931084 | 112 | C>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000005.10:g.181241510C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181241510C>T Locations: - p.Cys112Tyr (Ensembl:ENST00000512968) - c.335G>A (Ensembl:ENST00000512968) Source type: large scale study | |||||||
rs1271551946 | 114 | N>S | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.34) Somatic: No Accession: NC_000005.10:g.181241504T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181241504T>C Locations: - p.Asn114Ser (Ensembl:ENST00000512968) - c.341A>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs769607577 | 117 | S>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000005.10:g.181241495G>C Codon: TCC/TGC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181241495G>C Locations: - p.Ser117Cys (Ensembl:ENST00000512968) - c.350C>G (Ensembl:ENST00000512968) Source type: large scale study | |||||||
rs769607577 | 117 | S>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181241495G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181241495G>A Locations: - p.Ser117Phe (Ensembl:ENST00000512968) - c.350C>T (Ensembl:ENST00000512968) Source type: large scale study | |||||||
rs1759294029 | 120 | I>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000005.10:g.181240341T>A Codon: CAT/CTT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240341T>A Locations: - p.Ile120Phe (Ensembl:ENST00000512968) - c.358A>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1261369122 | 120 | I>T | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000005.10:g.181240340A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240340A>G Locations: - p.Ile120Thr (Ensembl:ENST00000512968) - c.359T>C (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1408022598 | 122 | S>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181240334G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240334G>A Locations: - p.Ser122Leu (Ensembl:ENST00000512968) - c.365C>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1408022598 | 122 | S>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000005.10:g.181240334G>C Codon: TCG/TGG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240334G>C Locations: - p.Ser122Trp (Ensembl:ENST00000512968) - c.365C>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1759293712 | 123 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000005.10:g.181240331G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240331G>A Locations: - p.Pro123Leu (Ensembl:ENST00000512968) - c.368C>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1013699224 | 125 | L>P | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181240325A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240325A>G Locations: - p.Leu125Pro (Ensembl:ENST00000512968) - c.374T>C (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs994874124 | 126 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000005.10:g.181240321C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240321C>G Locations: - p.Glu126Asp (Ensembl:ENST00000512968) - c.378G>C (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1759293372 | 128 | S>G | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000005.10:g.181240317T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240317T>C Locations: - p.Ser128Gly (Ensembl:ENST00000512968) - c.382A>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs530037423 | 128 | S>I | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181240316C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240316C>A Locations: - p.Ser128Ile (Ensembl:ENST00000512968) - c.383G>T (Ensembl:ENST00000512968) Source type: large scale study | |||||||
rs530037423 | 128 | S>N | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181240316C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240316C>T Locations: - p.Ser128Asn (Ensembl:ENST00000512968) - c.383G>A (Ensembl:ENST00000512968) Source type: large scale study | |||||||
rs58692059 | 129 | S>G | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181240314T>C Codon: TAG/TGG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240314T>C Locations: - p.Ser129Gly (Ensembl:ENST00000512968) - c.385A>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1055260040 | 129 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181240313C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240313C>T Locations: - p.Ser129Asn (Ensembl:ENST00000512968) - c.386G>A (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs530740539 | 130 | A>E | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181240310G>T Codon: GCG/GAG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240310G>T Locations: - p.Ala130Glu (Ensembl:ENST00000512968) - c.389C>A (Ensembl:ENST00000512968) Source type: large scale study | |||||||
rs1343007702 | 130 | A>T | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000005.10:g.181240311C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240311C>T Locations: - p.Ala130Thr (Ensembl:ENST00000512968) - c.388G>A (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs530740539 | 130 | A>V | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000005.10:g.181240310G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240310G>A Locations: - p.Ala130Val (Ensembl:ENST00000512968) - c.389C>T (Ensembl:ENST00000512968) Source type: large scale study | |||||||
rs1042538218 | 132 | S>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000005.10:g.181240304G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240304G>A Locations: - p.Ser132Leu (Ensembl:ENST00000512968) - c.395C>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1759292528 | 135 | C>R | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181240296A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240296A>G Locations: - p.Cys135Arg (Ensembl:ENST00000512968) - c.403T>C (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1465173719 | 135 | C>Y | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181240295C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240295C>T Locations: - p.Cys135Tyr (Ensembl:ENST00000512968) - c.404G>A (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1759292395 | 137 | L>F | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000005.10:g.181240290G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240290G>A Locations: - p.Leu137Phe (Ensembl:ENST00000512968) - c.409C>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1759292395 | 137 | L>I | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181240290G>T Codon: CTC/ATC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240290G>T Locations: - p.Leu137Ile (Ensembl:ENST00000512968) - c.409C>A (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1244881365 | 138 | C>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.181240285G>T Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240285G>T Locations: - p.Cys138Ter (Ensembl:ENST00000512968) - c.414C>A (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs577452700 | 138 | C>R | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181240287A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240287A>G Locations: - p.Cys138Arg (Ensembl:ENST00000512968) - c.412T>C (Ensembl:ENST00000512968) Source type: large scale study | |||||||
rs1759291876 | 138 | C>S | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181240286C>G Codon: TGC/TCC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240286C>G Locations: - p.Cys138Ser (Ensembl:ENST00000512968) - c.413G>C (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs912843080 | 139 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000005.10:g.181240284A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240284A>G Locations: - p.Phe139Leu (Ensembl:ENST00000512968) - c.415T>C (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1179414050 | 140 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000005.10:g.181240280G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240280G>A Locations: - p.Pro140Leu (Ensembl:ENST00000512968) - c.419C>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs545325564 | 141 | G>A | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000005.10:g.181240277C>G Codon: GGT/GCT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240277C>G Locations: - p.Gly141Ala (Ensembl:ENST00000512968) - c.422G>C (Ensembl:ENST00000512968) Source type: large scale study | |||||||
rs545325564 | 141 | G>D | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000005.10:g.181240277C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240277C>T Locations: - p.Gly141Asp (Ensembl:ENST00000512968) - c.422G>A (Ensembl:ENST00000512968) Source type: large scale study | |||||||
rs1759291411 | 141 | G>S | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000005.10:g.181240278C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240278C>T Locations: - p.Gly141Ser (Ensembl:ENST00000512968) - c.421G>A (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs890506422 | 142 | S>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.181240274G>C Codon: TCA/TGA Consequence type: stop gained Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240274G>C Locations: - p.Ser142Ter (Ensembl:ENST00000512968) - c.425C>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs554417776 | 143 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181240272G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240272G>A Locations: - p.Arg143Cys (Ensembl:ENST00000512968) - c.427C>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs921285935 | 143 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000005.10:g.181240271C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240271C>T Locations: - p.Arg143His (Ensembl:ENST00000512968) - c.428G>A (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs554417776 | 143 | R>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000005.10:g.181240272G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240272G>T Locations: - p.Arg143Ser (Ensembl:ENST00000512968) - c.427C>A (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1759290975 | 144 | H>L | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181240268T>A Codon: CAT/CTT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240268T>A Locations: - p.His144Leu (Ensembl:ENST00000512968) - c.431A>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1172890719 | 145 | S>P | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181240266A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240266A>G Locations: - p.Ser145Pro (Ensembl:ENST00000512968) - c.433T>C (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1759290847 | 146 | P>A | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181240263G>C Codon: CCT/GCT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240263G>C Locations: - p.Pro146Ala (Ensembl:ENST00000512968) - c.436C>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs934470951 | 146 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000005.10:g.181240262G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240262G>A Locations: - p.Pro146Leu (Ensembl:ENST00000512968) - c.437C>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs934470951 | 146 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000005.10:g.181240262G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240262G>C Locations: - p.Pro146Arg (Ensembl:ENST00000512968) - c.437C>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1453813074 | 147 | A>V | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000005.10:g.181240259G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240259G>A Locations: - p.Ala147Val (Ensembl:ENST00000512968) - c.440C>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1275517950 | 148 | S>L | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181240256G>A Codon: TCA/TTA Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240256G>A Locations: - p.Ser148Leu (Ensembl:ENST00000512968) - c.443C>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1213414358 | 149 | A>S | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000005.10:g.181240254C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240254C>A Locations: - p.Ala149Ser (Ensembl:ENST00000512968) - c.445G>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs746940792 | 151 | R>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.181240248G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240248G>A Locations: - p.Arg151Ter (Ensembl:ENST00000512968) - c.451C>T (Ensembl:ENST00000512968) Source type: large scale study | |||||||
rs962790064 | 151 | R>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181240247C>A Codon: CGA/CTA Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240247C>A Locations: - p.Arg151Leu (Ensembl:ENST00000512968) - c.452G>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs962790064 | 151 | R>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000005.10:g.181240247C>G Codon: CGA/CCA Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240247C>G Locations: - p.Arg151Pro (Ensembl:ENST00000512968) - c.452G>C (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs962790064 | 151 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181240247C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240247C>T Locations: - p.Arg151Gln (Ensembl:ENST00000512968) - c.452G>A (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1016101595 | 153 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000005.10:g.181240242C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240242C>T Locations: - p.Ala153Thr (Ensembl:ENST00000512968) - c.457G>A (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1372776000 | 154 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181240239C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240239C>T Locations: - p.Gly154Arg (Ensembl:ENST00000512968) - c.460G>A (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs983316952 | 156 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000005.10:g.181240233T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240233T>C Locations: - p.Thr156Ala (Ensembl:ENST00000512968) - c.466A>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1438581638 | 156 | T>I | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000005.10:g.181240232G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240232G>A Locations: - p.Thr156Ile (Ensembl:ENST00000512968) - c.467C>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs772259830 | 158 | A>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000005.10:g.181240226G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240226G>T Locations: - p.Ala158Asp (Ensembl:ENST00000512968) - c.473C>A (Ensembl:ENST00000512968) Source type: large scale study | |||||||
rs959847519 | 158 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000005.10:g.181240227C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240227C>T Locations: - p.Ala158Thr (Ensembl:ENST00000512968) - c.472G>A (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs772259830 | 158 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000005.10:g.181240226G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240226G>A Locations: - p.Ala158Val (Ensembl:ENST00000512968) - c.473C>T (Ensembl:ENST00000512968) Source type: large scale study | |||||||
rs908272527 | 159 | C>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000005.10:g.181240224A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240224A>G Locations: - p.Cys159Arg (Ensembl:ENST00000512968) - c.475T>C (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1759288801 | 159 | C>Y | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181240223C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240223C>T Locations: - p.Cys159Tyr (Ensembl:ENST00000512968) - c.476G>A (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1759288742 | 160 | H>D | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000005.10:g.181240221G>C Codon: CAT/GAT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240221G>C Locations: - p.His160Asp (Ensembl:ENST00000512968) - c.478C>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1025335010 | 161 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.181240218G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240218G>A Locations: - p.Gln161Ter (Ensembl:ENST00000512968) - c.481C>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs950854007 | 161 | Q>H | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000005.10:g.181240216C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181240216C>G Locations: - p.Gln161His (Ensembl:ENST00000512968) - c.483G>C (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs764684586 | 162 | D>E | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.55) Somatic: No Accession: NC_000005.10:g.181239580A>C Codon: GAT/GAG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181239580A>C Locations: - p.Asp162Glu (Ensembl:ENST00000512968) - c.486T>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs77794998 | 164 | S>I | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000005.10:g.181239575C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181239575C>A Locations: - p.Ser164Ile (Ensembl:ENST00000512968) - c.491G>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs77794998 | 164 | S>N | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000005.10:g.181239575C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181239575C>T Locations: - p.Ser164Asn (Ensembl:ENST00000512968) - c.491G>A (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
COSV59319228 rs768541673 | 167 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000003983 (gnomAD) Accession: NC_000005.10:g.181239567C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181239567C>G Locations: - p.E167Q (NCI-TCGA:ENST00000512968) - p.Glu167Gln (Ensembl:ENST00000512968) - c.499G>C (Ensembl:ENST00000512968) Source type: large scale study | |||||||
rs1485679545 | 173 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000005.10:g.181239548C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181239548C>T Locations: - p.Arg173His (Ensembl:ENST00000512968) - c.518G>A (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs910712672 | 183 | I>V | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000005.10:g.181239519T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181239519T>C Locations: - p.Ile183Val (Ensembl:ENST00000512968) - c.547A>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1582294880 | 189 | D>G | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181239500T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181239500T>C Locations: - p.Asp189Gly (Ensembl:ENST00000512968) - c.566A>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs3204002 | 189 | D>H | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181239501C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181239501C>G Locations: - p.Asp189His (Ensembl:ENST00000512968) - c.565G>C (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1162683535 | 191 | L>V | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.29) Somatic: No Accession: NC_000005.10:g.181239495G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181239495G>C Locations: - p.Leu191Val (Ensembl:ENST00000512968) - c.571C>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1582294859 | 192 | V>G | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000005.10:g.181239491A>C Codon: GTC/GGC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181239491A>C Locations: - p.Val192Gly (Ensembl:ENST00000512968) - c.575T>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1344188396 | 192 | V>I | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000005.10:g.181239492C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181239492C>T Locations: - p.Val192Ile (Ensembl:ENST00000512968) - c.574G>A (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs200305657 | 198 | A>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.28) Somatic: No Accession: NC_000005.10:g.181239165C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181239165C>A Locations: - p.Ala198Ser (Ensembl:ENST00000512968) - c.592G>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs772588134 | 201 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000005.10:g.181239155T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181239155T>C Locations: - p.Lys201Arg (Ensembl:ENST00000512968) - c.602A>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1204742250 | 203 | K>T | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000005.10:g.181239149T>G Codon: AAG/ACG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181239149T>G Locations: - p.Lys203Thr (Ensembl:ENST00000512968) - c.608A>C (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs777390691 | 207 | I>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000005.10:g.181239137A>C Codon: ATT/AGT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181239137A>C Locations: - p.Ile207Ser (Ensembl:ENST00000512968) - c.620T>G (Ensembl:ENST00000512968) Source type: large scale study | |||||||
rs777390691 | 207 | I>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000005.10:g.181239137A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181239137A>G Locations: - p.Ile207Thr (Ensembl:ENST00000512968) - c.620T>C (Ensembl:ENST00000512968) Source type: large scale study | |||||||
rs1582294294 | 207 | I>V | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000005.10:g.181239138T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181239138T>C Locations: - p.Ile207Val (Ensembl:ENST00000512968) - c.619A>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs752388576 | 211 | G>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000005.10:g.181239125C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181239125C>T Locations: - p.Gly211Asp (Ensembl:ENST00000512968) - c.632G>A (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1379442371 | 212 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000005.10:g.181239122T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181239122T>C Locations: - p.Tyr212Cys (Ensembl:ENST00000512968) - c.635A>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1379442371 | 212 | Y>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181239122T>G Codon: TAT/TCT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181239122T>G Locations: - p.Tyr212Ser (Ensembl:ENST00000512968) - c.635A>C (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs11540199 | 215 | T>A | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000005.10:g.181239114T>C Codon: ACG/GCG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181239114T>C Locations: - p.Thr215Ala (Ensembl:ENST00000512968) - c.643A>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs780842393 | 215 | T>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000005.10:g.181239113G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181239113G>A Locations: - p.Thr215Met (Ensembl:ENST00000512968) - c.644C>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs371509460 | 218 | V>I | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000005.10:g.181239105C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181239105C>T Locations: - p.Val218Ile (Ensembl:ENST00000512968) - c.652G>A (Ensembl:ENST00000512968) Source type: large scale study | |||||||
rs371509460 | 218 | V>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181239105C>G Codon: GTC/CTC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181239105C>G Locations: - p.Val218Leu (Ensembl:ENST00000512968) - c.652G>C (Ensembl:ENST00000512968) Source type: large scale study | |||||||
COSV105904398 rs11540189 | 222 | G>R | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000005.10:g.181239093C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181239093C>T Locations: - p.Gly222Arg (Ensembl:ENST00000512968) - c.664G>A (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs11540196 | 228 | G>V | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181239074C>A Codon: GGA/GTA Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181239074C>A Locations: - p.Gly228Val (Ensembl:ENST00000512968) - c.683G>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs189953976 | 231 | D>G | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000005.10:g.181238238T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181238238T>C Locations: - p.Asp231Gly (Ensembl:ENST00000512968) - c.692A>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs145995963 | 231 | D>N | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181238239C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181238239C>T Locations: - p.Asp231Asn (Ensembl:ENST00000512968) - c.691G>A (Ensembl:ENST00000512968) Source type: large scale study | |||||||
rs767043301 | 233 | Q>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000005.10:g.181238231C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181238231C>G Locations: - p.Gln233His (Ensembl:ENST00000512968) - c.699G>C (Ensembl:ENST00000512968) Source type: large scale study | |||||||
rs1759210607 | 234 | A>G | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000005.10:g.181238229G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181238229G>C Locations: - p.Ala234Gly (Ensembl:ENST00000512968) - c.701C>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1582293122 | 235 | M>T | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181238226A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181238226A>G Locations: - p.Met235Thr (Ensembl:ENST00000512968) - c.704T>C (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs11540198 | 235 | M>V | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181238227T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181238227T>C Locations: - p.Met235Val (Ensembl:ENST00000512968) - c.703A>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs893324925 | 242 | G>V | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181238205C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181238205C>A Locations: - p.Gly242Val (Ensembl:ENST00000512968) - c.725G>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1330048237 | 246 | Y>H | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000005.10:g.181238194A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181238194A>G Locations: - p.Tyr246His (Ensembl:ENST00000512968) - c.736T>C (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1759209851 | 252 | D>G | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000005.10:g.181238175T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181238175T>C Locations: - p.Asp252Gly (Ensembl:ENST00000512968) - c.755A>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs746445861 | 253 | I>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000005.10:g.181238171G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181238171G>C Locations: - p.Ile253Met (Ensembl:ENST00000512968) - c.759C>G (Ensembl:ENST00000512968) Source type: large scale study | |||||||
rs1759209805 | 253 | I>V | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.34) Somatic: No Accession: NC_000005.10:g.181238173T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181238173T>C Locations: - p.Ile253Val (Ensembl:ENST00000512968) - c.757A>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1759209673 | 254 | I>L | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000005.10:g.181238170T>G Codon: ATC/CTC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181238170T>G Locations: - p.Ile254Leu (Ensembl:ENST00000512968) - c.760A>C (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs201404764 | 254 | I>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181238168G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181238168G>C Locations: - p.Ile254Met (Ensembl:ENST00000512968) - c.762C>G (Ensembl:ENST00000512968) Source type: large scale study | |||||||
rs1759209616 | 254 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181238169A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181238169A>G Locations: - p.Ile254Thr (Ensembl:ENST00000512968) - c.761T>C (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
COSV59317717 rs1390326067 | 256 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: Yes Population frequencies: - MAF: 0.000003976 (gnomAD) Accession: NC_000005.10:g.181238164C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181238164C>T Locations: - p.A256T (NCI-TCGA:ENST00000512968) - p.Ala256Thr (Ensembl:ENST00000512968) - c.766G>A (Ensembl:ENST00000512968) Source type: large scale study | |||||||
COSV59319031 rs1399549323 | 263 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: Yes Population frequencies: - MAF: 0.000003976 (gnomAD) Accession: NC_000005.10:g.181238143G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181238143G>A Locations: - p.R263C (NCI-TCGA:ENST00000512968) - p.Arg263Cys (Ensembl:ENST00000512968) - c.787C>T (Ensembl:ENST00000512968) Source type: large scale study | |||||||
rs1582293062 | 267 | C>G | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000005.10:g.181238131A>C Codon: TGT/GGT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181238131A>C Locations: - p.Cys267Gly (Ensembl:ENST00000512968) - c.799T>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs11540181 | 269 | A>G | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181238124G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181238124G>C Locations: - p.Ala269Gly (Ensembl:ENST00000512968) - c.806C>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1582293053 | 270 | T>P | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000005.10:g.181238122T>G Codon: ACA/CCA Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181238122T>G Locations: - p.Thr270Pro (Ensembl:ENST00000512968) - c.808A>C (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs11540197 | 273 | S>I | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000005.10:g.181238112C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181238112C>A Locations: - p.Ser273Ile (Ensembl:ENST00000512968) - c.818G>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1759208563 | 274 | I>T | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181238109A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181238109A>G Locations: - p.Ile274Thr (Ensembl:ENST00000512968) - c.821T>C (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1040406651 | 277 | W>S | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181238100C>G Codon: TGG/TCG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181238100C>G Locations: - p.Trp277Ser (Ensembl:ENST00000512968) - c.830G>C (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1241416723 | 281 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000005.10:g.181237709C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181237709C>T Locations: - p.Gly281Glu (Ensembl:ENST00000512968) - c.842G>A (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs780364981 | 283 | I>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000005.10:g.181237702G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181237702G>C Locations: - p.Ile283Met (Ensembl:ENST00000512968) - c.849C>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs200634984 | 284 | I>V | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.34) Somatic: No Accession: NC_000005.10:g.181237701T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181237701T>C Locations: - p.Ile284Val (Ensembl:ENST00000512968) - c.850A>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1759191700 | 296 | S>T | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000005.10:g.181237664C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181237664C>G Locations: - p.Ser296Thr (Ensembl:ENST00000512968) - c.887G>C (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1759191575 | 297 | S>N | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000005.10:g.181237661C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181237661C>T Locations: - p.Ser297Asn (Ensembl:ENST00000512968) - c.890G>A (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1168730374 | 299 | A>V | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000005.10:g.181237655G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181237655G>A Locations: - p.Ala299Val (Ensembl:ENST00000512968) - c.896C>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs201194486 | 302 | P>S | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000005.10:g.181237647G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181237647G>A Locations: - p.Pro302Ser (Ensembl:ENST00000512968) - c.904C>T (Ensembl:ENST00000512968) Source type: large scale study | |||||||
rs1022596913 | 303 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000005.10:g.181237642C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181237642C>G Locations: - p.Gln303His (Ensembl:ENST00000512968) - c.909G>C (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1759191184 | 303 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000005.10:g.181237643T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181237643T>C Locations: - p.Gln303Arg (Ensembl:ENST00000512968) - c.908A>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs11540195 | 304 | C>Y | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000005.10:g.181237640C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181237640C>T Locations: - p.Cys304Tyr (Ensembl:ENST00000512968) - c.911G>A (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1424066240 | 305 | T>A | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000005.10:g.181237638T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181237638T>C Locations: - p.Thr305Ala (Ensembl:ENST00000512968) - c.913A>G (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1759190672 | 308 | A>D | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000005.10:g.181237628G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181237628G>T Locations: - p.Ala308Asp (Ensembl:ENST00000512968) - c.923C>A (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
rs1381944212 | 308 | A>T | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000005.10:g.181237629C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181237629C>T Locations: - p.Ala308Thr (Ensembl:ENST00000512968) - c.922G>A (Ensembl:ENST00000512968) Source type: large scale study Cross-references: | |||||||
COSV59319338 rs770353665 | 321 | T>M | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000005.10:g.181237023G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 5q35.3 Genomic location: NC_000005.10:g.181237023G>A Locations: - p.Thr321Met (Ensembl:ENST00000512968) - c.962C>T (Ensembl:ENST00000512968) Source type: large scale study Cross-references: |