A3KGS3 · RGPA2_MOUSE
- ProteinRal GTPase-activating protein subunit alpha-2
- GeneRalgapa2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1872 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388594963 | 192 | T>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146292463G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146292463G>T Locations: - p.Thr192Asn (Ensembl:ENSMUST00000131824) - c.575C>A (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3540781061 | 192 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146292464T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146292464T>G Locations: - p.Thr192Pro (Ensembl:ENSMUST00000131824) - c.574A>C (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388591419 | 213 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146292400T>C Codon: CAA/CGA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146292400T>C Locations: - p.Gln213Arg (Ensembl:ENSMUST00000131824) - c.638A>G (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs261997472 | 225 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146291261C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146291261C>G Locations: - p.Ser225Thr (Ensembl:ENSMUST00000131824) - c.674G>C (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388598884 | 228 | W>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146291252C>A Codon: TGG/TTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146291252C>A Locations: - p.Trp228Leu (Ensembl:ENSMUST00000131824) - c.683G>T (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388596467 | 268 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146291133G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146291133G>A Locations: - p.Leu268Phe (Ensembl:ENSMUST00000131824) - c.802C>T (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388593388 | 366 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000068.8:g.146285841T>A Codon: ACC/TCC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146285841T>A Locations: - p.Thr366Ser (Ensembl:ENSMUST00000131824) - c.1096A>T (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388596649 | 375 | S>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146285813G>T Codon: TCC/TAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146285813G>T Locations: - p.Ser375Tyr (Ensembl:ENSMUST00000131824) - c.1124C>A (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388593799 | 377 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146285807A>G Codon: CTT/CCT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146285807A>G Locations: - p.Leu377Pro (Ensembl:ENSMUST00000131824) - c.1130T>C (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3392341074 | 439-440 | PV>FY | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.146277842_146277843insCTGTTTTCATGGAGGAACCAGATAAAA Codon: -/TTTTATCTGGTTCCTCCATGAAAACAG Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.146277842_146277843insCTGTTTTCATGGAGGAACCAGATAAAA Locations: - p.Pro439_Val440insPheTyrLeuValProProTer (Ensembl:ENSMUST00000131824) - c.1317_1318insTTTTATCTGGTTCCTCCATGAAAACAG (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs29541136 | 444 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.146277828T>A Codon: GAA/GAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146277828T>A Locations: - p.Glu444Asp (Ensembl:ENSMUST00000131824) - c.1332A>T (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388583997 | 445 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146277826G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146277826G>A Locations: - p.Pro445Leu (Ensembl:ENSMUST00000131824) - c.1334C>T (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs33700655 | 447 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.146277821T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146277821T>C Locations: - p.Lys447Glu (Ensembl:ENSMUST00000131824) - c.1339A>G (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs221828450 | 456 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000068.8:g.146277793T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146277793T>C Locations: - p.Asp456Gly (Ensembl:ENSMUST00000131824) - c.1367A>G (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388598889 | 513 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.146276702G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.146276702G>A Locations: - p.Gln513Ter (Ensembl:ENSMUST00000131824) - c.1537C>T (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388595004 | 517 | T>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146273876G>C Codon: ACG/AGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146273876G>C Locations: - p.Thr517Arg (Ensembl:ENSMUST00000131824) - c.1550C>G (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388600871 | 523 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146273859A>G Codon: TTT/CTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146273859A>G Locations: - p.Phe523Leu (Ensembl:ENSMUST00000131824) - c.1567T>C (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388590325 | 533 | M>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000068.8:g.146273829T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146273829T>C Locations: - p.Met533Val (Ensembl:ENSMUST00000131824) - c.1597A>G (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388600292 | 603 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146266767A>T Codon: ATT/AAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146266767A>T Locations: - p.Ile603Asn (Ensembl:ENSMUST00000131824) - c.1808T>A (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388593446 | 627 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146266696G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146266696G>C Locations: - p.Leu627Val (Ensembl:ENSMUST00000131824) - c.1879C>G (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388593438 | 633 | W>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.146266678A>T Codon: TGG/AGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146266678A>T Locations: - p.Trp633Arg (Ensembl:ENSMUST00000131824) - c.1897T>A (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388596648 | 660 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146266595C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146266595C>T Locations: - p.Met660Ile (Ensembl:ENSMUST00000131824) - c.1980G>A (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388584039 | 673 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146266557T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146266557T>A Locations: - p.Glu673Val (Ensembl:ENSMUST00000131824) - c.2018A>T (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388598323 | 674 | K>SD | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.146266554_146266555insCCACACTACCTCAACCATCAC Codon: AAG/AGTGATGGTTGAGGTAGTGTGGAG Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.146266554_146266555insCCACACTACCTCAACCATCAC Locations: - p.Lys674delinsSerAspGlyTer (Ensembl:ENSMUST00000131824) - c.2020_2021insGTGATGGTTGAGGTAGTGTGG (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388596532 | 677 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146266546G>C Codon: CGT/GGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146266546G>C Locations: - p.Arg677Gly (Ensembl:ENSMUST00000131824) - c.2029C>G (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs48111556 | 682 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.81) Somatic: No Accession: NC_000068.8:g.146263672T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146263672T>C Locations: - p.Ile682Val (Ensembl:ENSMUST00000131824) - c.2044A>G (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3392380253 | 686 | Q>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146263660G>C Codon: CAA/GAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146263660G>C Locations: - p.Gln686Glu (Ensembl:ENSMUST00000131824) - c.2056C>G (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3392347590 | 717 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146263567A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146263567A>G Locations: - p.Ser717Pro (Ensembl:ENSMUST00000131824) - c.2149T>C (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388598332 | 744 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000068.8:g.146254762T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146254762T>C Locations: - p.Ser744Gly (Ensembl:ENSMUST00000131824) - c.2230A>G (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388599493 | 748 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: NC_000068.8:g.146254749G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146254749G>A Locations: - p.Ala748Val (Ensembl:ENSMUST00000131824) - c.2243C>T (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388590313 | 769 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146254686A>T Codon: ATC/AAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146254686A>T Locations: - p.Ile769Asn (Ensembl:ENSMUST00000131824) - c.2306T>A (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388590309 | 776 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000068.8:g.146254665T>A Codon: GAC/GTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146254665T>A Locations: - p.Asp776Val (Ensembl:ENSMUST00000131824) - c.2327A>T (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388591134 | 777 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.81) Somatic: No Accession: NC_000068.8:g.146254663A>T Codon: TCC/ACC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146254663A>T Locations: - p.Ser777Thr (Ensembl:ENSMUST00000131824) - c.2329T>A (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388594964 | 794 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000068.8:g.146252149G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146252149G>A Locations: - p.Pro794Ser (Ensembl:ENSMUST00000131824) - c.2380C>T (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs257482641 | 806 | H>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.146252112T>G Codon: CAT/CCT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146252112T>G Locations: - p.His806Pro (Ensembl:ENSMUST00000131824) - c.2417A>C (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs216921401 | 806 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000068.8:g.146252113G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146252113G>A Locations: - p.His806Tyr (Ensembl:ENSMUST00000131824) - c.2416C>T (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388596559 | 812 | T>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000068.8:g.146252094G>C Codon: ACA/AGA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146252094G>C Locations: - p.Thr812Arg (Ensembl:ENSMUST00000131824) - c.2435C>G (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs864261142 | 813 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000068.8:g.146248350C>G Codon: ATG/ATC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146248350C>G Locations: - p.Met813Ile (Ensembl:ENSMUST00000131824) - c.2439G>C (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs242743077 | 833 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000068.8:g.146248292C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146248292C>T Locations: - p.Ala833Thr (Ensembl:ENSMUST00000131824) - c.2497G>A (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs222504962 | 842 | T>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000068.8:g.146248264G>T Codon: ACA/AAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146248264G>T Locations: - p.Thr842Lys (Ensembl:ENSMUST00000131824) - c.2525C>A (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388600882 | 847 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146246947C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146246947C>T Locations: - p.Gly847Asp (Ensembl:ENSMUST00000131824) - c.2540G>A (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs228392386 | 851 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: NC_000068.8:g.146246935A>G Codon: GTT/GCT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146246935A>G Locations: - p.Val851Ala (Ensembl:ENSMUST00000131824) - c.2552T>C (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388593385 | 855 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.35) Somatic: No Accession: NC_000068.8:g.146246922G>C Codon: AGC/AGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146246922G>C Locations: - p.Ser855Arg (Ensembl:ENSMUST00000131824) - c.2565C>G (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388590368 | 869 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000068.8:g.146246880C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146246880C>A Locations: - p.Glu869Asp (Ensembl:ENSMUST00000131824) - c.2607G>T (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs249129241 | 875 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.74) Somatic: No Accession: NC_000068.8:g.146246863C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146246863C>T Locations: - p.Ser875Asn (Ensembl:ENSMUST00000131824) - c.2624G>A (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388596634 | 893 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000068.8:g.146246809C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146246809C>T Locations: - p.Ser893Asn (Ensembl:ENSMUST00000131824) - c.2678G>A (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388600273 | 929 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146230524C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146230524C>G Locations: - p.Val929Leu (Ensembl:ENSMUST00000131824) - c.2785G>C (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388591131 | 931 | W>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146230518A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146230518A>G Locations: - p.Trp931Arg (Ensembl:ENSMUST00000131824) - c.2791T>C (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388598508 | 933 | R>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146230511C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146230511C>T Locations: - p.Arg933Lys (Ensembl:ENSMUST00000131824) - c.2798G>A (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388598545 | 996 | W>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.146229537C>T Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.146229537C>T Locations: - p.Trp996Ter (Ensembl:ENSMUST00000131824) - c.2987G>A (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388591067 | 1016 | K>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146229254T>A Codon: AAA/ATA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146229254T>A Locations: - p.Lys1016Ile (Ensembl:ENSMUST00000131824) - c.3047A>T (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3392296030 | 1035 | L>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146229197A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146229197A>T Locations: - p.Leu1035Gln (Ensembl:ENSMUST00000131824) - c.3104T>A (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3392263870 | 1038 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.56) Somatic: No Accession: NC_000068.8:g.146229189A>G Codon: TTT/CTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146229189A>G Locations: - p.Phe1038Leu (Ensembl:ENSMUST00000131824) - c.3112T>C (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3392065416 | 1040 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.29) Somatic: No Accession: NC_000068.8:g.146229183G>T Codon: CTT/ATT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146229183G>T Locations: - p.Leu1040Ile (Ensembl:ENSMUST00000131824) - c.3118C>A (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3392348944 | 1043 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146229174G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146229174G>A Locations: - p.His1043Tyr (Ensembl:ENSMUST00000131824) - c.3127C>T (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3392201807 | 1044 | L>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: NC_000068.8:g.146229170A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146229170A>T Locations: - p.Leu1044Gln (Ensembl:ENSMUST00000131824) - c.3131T>A (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3392364420 | 1044-1045 | LG>VL | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.146229169_146229170insTGGTGCATTTTTACCTTGTGATGCACCTGGGACTAACCAGCGAGGACC Codon: GGA/GTCCTCGCTGGTTAGTCCCAGGTGCATCACAAGGTAAAAATGCACCAGGGA Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.146229169_146229170insTGGTGCATTTTTACCTTGTGATGCACCTGGGACTAACCAGCGAGGACC Locations: - p.Leu1044_Gly1045insValLeuAlaGlyTer (Ensembl:ENSMUST00000131824) - c.3133_3134insTCCTCGCTGGTTAGTCCCAGGTGCATCACAAGGTAAAAATGCACCAGG (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3392417033 | 1045 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146229167C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146229167C>T Locations: - p.Gly1045Glu (Ensembl:ENSMUST00000131824) - c.3134G>A (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs27291200 | 1046 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000068.8:g.146229165G>C Codon: CTA/GTA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146229165G>C Locations: - p.Leu1046Val (Ensembl:ENSMUST00000131824) - c.3136C>G (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3540792709 | 1070 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000068.8:g.146203383C>A Codon: TTG/TTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146203383C>A Locations: - p.Leu1070Phe (Ensembl:ENSMUST00000131824) - c.3210G>T (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388593394 | 1131 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000068.8:g.146199897T>A Codon: ACG/TCG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146199897T>A Locations: - p.Thr1131Ser (Ensembl:ENSMUST00000131824) - c.3391A>T (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs864287175 | 1177 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.32) Somatic: No Accession: NC_000068.8:g.146195141T>G Codon: AGC/CGC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146195141T>G Locations: - p.Ser1177Arg (Ensembl:ENSMUST00000131824) - c.3529A>C (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3412670626 | 1221 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146190396T>A Codon: GAA/GTA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146190396T>A Locations: - p.Glu1221Val (Ensembl:ENSMUST00000131824) - c.3662A>T (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388596603 | 1237 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146189085G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146189085G>A Locations: - p.Ala1237Val (Ensembl:ENSMUST00000131824) - c.3710C>T (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388599467 | 1273 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.68) Somatic: No Accession: NC_000068.8:g.146188709C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146188709C>T Locations: - p.Ala1273Thr (Ensembl:ENSMUST00000131824) - c.3817G>A (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388598934 | 1276 | H>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146188700G>T Codon: CAC/AAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146188700G>T Locations: - p.His1276Asn (Ensembl:ENSMUST00000131824) - c.3826C>A (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs211890126 | 1282 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000068.8:g.146188682C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146188682C>T Locations: - p.Val1282Ile (Ensembl:ENSMUST00000131824) - c.3844G>A (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs231147324 | 1290 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000068.8:g.146188657C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146188657C>T Locations: - p.Arg1290Gln (Ensembl:ENSMUST00000131824) - c.3869G>A (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs212893601 | 1313 | Q>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146187449T>G Codon: CAG/CCG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146187449T>G Locations: - p.Gln1313Pro (Ensembl:ENSMUST00000131824) - c.3938A>C (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388596645 | 1364 | R>S | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.146184660_146184661insAACCATCACTCAC Codon: AGA/AGTGAGTGATGGTTGA Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.146184660_146184661insAACCATCACTCAC Locations: - p.Arg1364SerfsTer3 (Ensembl:ENSMUST00000131824) - c.4091_4092insTGAGTGATGGTTG (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388591431 | 1365 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146184658T>C Codon: AGA/GGA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146184658T>C Locations: - p.Arg1365Gly (Ensembl:ENSMUST00000131824) - c.4093A>G (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388592838 | 1365 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146184656T>A Codon: AGA/AGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146184656T>A Locations: - p.Arg1365Ser (Ensembl:ENSMUST00000131824) - c.4095A>T (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388590336 | 1392 | G>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146184577C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146184577C>A Locations: - p.Gly1392Trp (Ensembl:ENSMUST00000131824) - c.4174G>T (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388593374 | 1393 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146184573C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146184573C>T Locations: - p.Gly1393Asp (Ensembl:ENSMUST00000131824) - c.4178G>A (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388590347 | 1469 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.146184344G>T Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.146184344G>T Locations: - p.Tyr1469Ter (Ensembl:ENSMUST00000131824) - c.4407C>A (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388596514 | 1495 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000068.8:g.146184268T>A Codon: ATT/TTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146184268T>A Locations: - p.Ile1495Phe (Ensembl:ENSMUST00000131824) - c.4483A>T (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs27291367 | 1511 | N>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000068.8:g.146184220T>G Codon: AAC/CAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146184220T>G Locations: - p.Asn1511His (Ensembl:ENSMUST00000131824) - c.4531A>C (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs864269852 | 1516 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000068.8:g.146184204T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146184204T>C Locations: - p.Asp1516Gly (Ensembl:ENSMUST00000131824) - c.4547A>G (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388584043 | 1518 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146184198A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146184198A>T Locations: - p.Val1518Glu (Ensembl:ENSMUST00000131824) - c.4553T>A (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388600230 | 1645 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146176528T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146176528T>G Locations: - p.Thr1645Pro (Ensembl:ENSMUST00000131824) - c.4933A>C (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388598485 | 1654 | A>V | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.146176501_146176502insTCCACACTACCTCAACCATCACTCAC Codon: GCT/GTGAGTGATGGTTGAGGTAGTGTGGAGCT Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.146176501_146176502insTCCACACTACCTCAACCATCACTCAC Locations: - p.Ala1654ValfsTer5 (Ensembl:ENSMUST00000131824) - c.4960_4961insTGAGTGATGGTTGAGGTAGTGTGGAG (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388598937 | 1655 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000068.8:g.146176496T>A Codon: GAA/GAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146176496T>A Locations: - p.Glu1655Asp (Ensembl:ENSMUST00000131824) - c.4965A>T (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3388591080 | 1670 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.146176452C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146176452C>T Locations: - p.Ser1670Asn (Ensembl:ENSMUST00000131824) - c.5009G>A (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs3392364397 | 1865 | S>L | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.146102308_146102309insCTCAAGTCTTTTCTCCCTCTCCCAGCTACTCTGTCAGT Codon: CCC/CCACTGACAGAGTAGCTGGGAGAGGGAGAAAAGACTTGAGC Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.146102308_146102309insCTCAAGTCTTTTCTCCCTCTCCCAGCTACTCTGTCAGT Locations: - p.Ser1865LeufsTer4 (Ensembl:ENSMUST00000131824) - c.5591_5592insACTGACAGAGTAGCTGGGAGAGGGAGAAAAGACTTGAG (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs27247125 | 1868 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000068.8:g.146102298C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146102298C>T Locations: - p.Val1868Ile (Ensembl:ENSMUST00000131824) - c.5602G>A (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: | |||||||
rs27247125 | 1868 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000068.8:g.146102298C>G Codon: GTC/CTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.146102298C>G Locations: - p.Val1868Leu (Ensembl:ENSMUST00000131824) - c.5602G>C (Ensembl:ENSMUST00000131824) Source type: large scale study Cross-references: |