Q61789 · LAMA3_MOUSE
- ProteinLaminin subunit alpha-3
- GeneLama3
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids3330 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389488613 | 6 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: No Accession: NC_000084.7:g.12467096G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12467096G>C Locations: - p.Gly6Arg (Ensembl:ENSMUST00000092070) - c.16G>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389503229 | 8 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.39) Somatic: No Accession: NC_000084.7:g.12467103C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12467103C>T Locations: - p.Ala8Val (Ensembl:ENSMUST00000092070) - c.23C>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389487553 | 9 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.45) Somatic: No Accession: NC_000084.7:g.12467105C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12467105C>T Locations: - p.Pro9Ser (Ensembl:ENSMUST00000092070) - c.25C>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs239822577 | 34 | G>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.64) Somatic: No Accession: NC_000084.7:g.12467181G>C Codon: GGT/GCT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12467181G>C Locations: - p.Gly34Ala (Ensembl:ENSMUST00000092070) - c.101G>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs261702937 | 42 | R>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.47) Somatic: No Accession: NC_000084.7:g.12467205G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12467205G>T Locations: - p.Arg42Leu (Ensembl:ENSMUST00000092070) - c.125G>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389487542 | 61 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12467261G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12467261G>A Locations: - p.Ala61Thr (Ensembl:ENSMUST00000092070) - c.181G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs220969233 | 86 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000084.7:g.12467336G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12467336G>A Locations: - p.Ala86Thr (Ensembl:ENSMUST00000092070) - c.256G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs238730533 | 88 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000084.7:g.12467344G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12467344G>T Locations: - p.Gln88His (Ensembl:ENSMUST00000092070) - c.264G>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389503232 | 117 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000084.7:g.12502572A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12502572A>G Locations: - p.Ile117Val (Ensembl:ENSMUST00000092070) - c.349A>G (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389468741 | 134 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000084.7:g.12502623C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 18q Genomic location: NC_000084.7:g.12502623C>T Locations: - p.Gln134Ter (Ensembl:ENSMUST00000092070) - c.400C>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389445702 | 136 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12502630A>T Codon: AAT/ATT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12502630A>T Locations: - p.Asn136Ile (Ensembl:ENSMUST00000092070) - c.407A>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs30979544 | 137 | Q>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000084.7:g.12502632C>G Codon: CAA/GAA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12502632C>G Locations: - p.Gln137Glu (Ensembl:ENSMUST00000092070) - c.409C>G (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs216732602 | 167 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000084.7:g.12535152A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12535152A>G Locations: - p.Ile167Val (Ensembl:ENSMUST00000092070) - c.499A>G (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389495169 | 242 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000084.7:g.12537080T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12537080T>C Locations: - p.Phe242Leu (Ensembl:ENSMUST00000092070) - c.724T>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389495189 | 247 | R>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12537096G>C Codon: AGG/ACG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12537096G>C Locations: - p.Arg247Thr (Ensembl:ENSMUST00000092070) - c.740G>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389483380 | 266 | L>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12537153T>A Codon: CTC/CAC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12537153T>A Locations: - p.Leu266His (Ensembl:ENSMUST00000092070) - c.797T>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389495200 | 277 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12537186C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12537186C>A Locations: - p.Pro277His (Ensembl:ENSMUST00000092070) - c.830C>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3553797686 | 295 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000084.7:g.12540581G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12540581G>A Locations: - p.Arg295Gln (Ensembl:ENSMUST00000092070) - c.884G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389488470 | 309 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12540624C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12540624C>A Locations: - p.Asn309Lys (Ensembl:ENSMUST00000092070) - c.927C>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389468752 | 312 | K>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000084.7:g.12540631A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12540631A>C Locations: - p.Lys312Gln (Ensembl:ENSMUST00000092070) - c.934A>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3410819124 | 332 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000084.7:g.12544652G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12544652G>T Locations: - p.Ala332Ser (Ensembl:ENSMUST00000092070) - c.994G>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs214625749 | 340 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000084.7:g.12544677A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12544677A>G Locations: - p.Gln340Arg (Ensembl:ENSMUST00000092070) - c.1019A>G (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs230687576 | 346 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000084.7:g.12544696G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12544696G>T Locations: - p.Gln346His (Ensembl:ENSMUST00000092070) - c.1038G>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389487540 | 363 | Y>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000084.7:g.12546829A>T Codon: TAC/TTC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12546829A>T Locations: - p.Tyr363Phe (Ensembl:ENSMUST00000092070) - c.1088A>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389495161 | 363 | Y>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12546828T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12546828T>C Locations: - p.Tyr363His (Ensembl:ENSMUST00000092070) - c.1087T>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs220905684 | 417 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000084.7:g.12552299T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12552299T>C Locations: - p.Leu417Pro (Ensembl:ENSMUST00000092070) - c.1250T>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389503264 | 425 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12552863G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12552863G>A Locations: - p.Cys425Tyr (Ensembl:ENSMUST00000092070) - c.1274G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389503260 | 433 | C>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12552886T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12552886T>C Locations: - p.Cys433Arg (Ensembl:ENSMUST00000092070) - c.1297T>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389499504 | 462 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12552973C>A Codon: CCA/ACA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12552973C>A Locations: - p.Pro462Thr (Ensembl:ENSMUST00000092070) - c.1384C>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3553607977 | 545 | C>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12572429T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12572429T>C Locations: - p.Cys545Arg (Ensembl:ENSMUST00000092070) - c.1633T>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3408148620 | 557 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12572466G>T Codon: GGA/GTA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12572466G>T Locations: - p.Gly557Val (Ensembl:ENSMUST00000092070) - c.1670G>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3413009622 | 559 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12572471A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12572471A>C Locations: - p.Thr559Pro (Ensembl:ENSMUST00000092070) - c.1675A>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs254955159 | 580 | G>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.48) Somatic: No Accession: NC_000084.7:g.12574158G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12574158G>C Locations: - p.Gly580Ala (Ensembl:ENSMUST00000092070) - c.1739G>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389445710 | 622 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000084.7:g.12581407C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12581407C>T Locations: - p.Pro622Leu (Ensembl:ENSMUST00000092070) - c.1865C>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389504285 | 728 | Y>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000084.7:g.12586821A>T Codon: TAT/TTT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12586821A>T Locations: - p.Tyr728Phe (Ensembl:ENSMUST00000092070) - c.2183A>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs48447090 | 740 | N>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.59) Somatic: No Accession: NC_000084.7:g.12586856A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12586856A>G Locations: - p.Asn740Asp (Ensembl:ENSMUST00000092070) - c.2218A>G (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389490675 | 743 | F>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12586866T>A Codon: TTT/TAT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12586866T>A Locations: - p.Phe743Tyr (Ensembl:ENSMUST00000092070) - c.2228T>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389487569 | 769 | R>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000084.7:g.12589777G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12589777G>A Locations: - p.Arg769Lys (Ensembl:ENSMUST00000092070) - c.2306G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389479485 | 780 | S>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000084.7:g.12589810C>A Codon: TCC/TAC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12589810C>A Locations: - p.Ser780Tyr (Ensembl:ENSMUST00000092070) - c.2339C>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389445652 | 854 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12592871G>T Codon: GGA/GTA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12592871G>T Locations: - p.Gly854Val (Ensembl:ENSMUST00000092070) - c.2561G>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs217045512 | 884 | T>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000084.7:g.12595274C>A Codon: ACA/AAA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12595274C>A Locations: - p.Thr884Lys (Ensembl:ENSMUST00000092070) - c.2651C>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389483393 | 901 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000084.7:g.12595774C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12595774C>T Locations: - p.Ala901Val (Ensembl:ENSMUST00000092070) - c.2702C>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3413025453 | 912 | H>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.56) Somatic: No Accession: NC_000084.7:g.12595807A>T Codon: CAC/CTC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12595807A>T Locations: - p.His912Leu (Ensembl:ENSMUST00000092070) - c.2735A>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389482191 | 913 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000084.7:g.12595809T>A Codon: TTC/ATC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12595809T>A Locations: - p.Phe913Ile (Ensembl:ENSMUST00000092070) - c.2737T>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389483343 | 926 | Q>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000084.7:g.12595848C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12595848C>A Locations: - p.Gln926Lys (Ensembl:ENSMUST00000092070) - c.2776C>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389489048 | 928 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000084.7:g.12595855C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12595855C>T Locations: - p.Thr928Ile (Ensembl:ENSMUST00000092070) - c.2783C>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs51766803 | 959 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000084.7:g.12598469C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12598469C>A Locations: - p.Leu959Met (Ensembl:ENSMUST00000092070) - c.2875C>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389482168 | 978 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000084.7:g.12598527G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12598527G>A Locations: - p.Ser978Asn (Ensembl:ENSMUST00000092070) - c.2933G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3408289976 | 983 | L>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000084.7:g.12598542T>A Codon: TTG/TAG Consequence type: stop gained Cytogenetic band: 18q Genomic location: NC_000084.7:g.12598542T>A Locations: - p.Leu983Ter (Ensembl:ENSMUST00000092070) - c.2948T>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3408594508 | 983 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.25) Somatic: No Accession: NC_000084.7:g.12598541T>A Codon: TTG/ATG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12598541T>A Locations: - p.Leu983Met (Ensembl:ENSMUST00000092070) - c.2947T>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389398627 | 1011 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000084.7:g.12601355G>C Codon: GTA/CTA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12601355G>C Locations: - p.Val1011Leu (Ensembl:ENSMUST00000092070) - c.3031G>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389468672 | 1028 | H>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000084.7:g.12601407A>T Codon: CAT/CTT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12601407A>T Locations: - p.His1028Leu (Ensembl:ENSMUST00000092070) - c.3083A>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs227743550 | 1046 | Y>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000084.7:g.12602952T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12602952T>C Locations: - p.Tyr1046His (Ensembl:ENSMUST00000092070) - c.3136T>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs249104664 | 1052 | H>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000084.7:g.12602970C>A Codon: CAC/AAC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12602970C>A Locations: - p.His1052Asn (Ensembl:ENSMUST00000092070) - c.3154C>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs235497110 | 1058 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000084.7:g.12602988A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12602988A>G Locations: - p.Arg1058Gly (Ensembl:ENSMUST00000092070) - c.3172A>G (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs238246877 | 1060 | H>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000084.7:g.12602995A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12602995A>G Locations: - p.His1060Arg (Ensembl:ENSMUST00000092070) - c.3179A>G (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs261964396 | 1087 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000084.7:g.12605307G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12605307G>A Locations: - p.Gly1087Asp (Ensembl:ENSMUST00000092070) - c.3260G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389479529 | 1089 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.46) Somatic: No Accession: NC_000084.7:g.12605312T>A Codon: TTC/ATC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12605312T>A Locations: - p.Phe1089Ile (Ensembl:ENSMUST00000092070) - c.3265T>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389454588 | 1101 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12605348G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12605348G>T Locations: - p.Asp1101Tyr (Ensembl:ENSMUST00000092070) - c.3301G>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs250718322 | 1136 | P>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12610463C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12610463C>A Locations: - p.Pro1136Gln (Ensembl:ENSMUST00000092070) - c.3407C>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs233871526 | 1140 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000084.7:g.12610475C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12610475C>G Locations: - p.Thr1140Ser (Ensembl:ENSMUST00000092070) - c.3419C>G (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389490707 | 1149 | Q>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.83) Somatic: No Accession: NC_000084.7:g.12610501C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12610501C>A Locations: - p.Gln1149Lys (Ensembl:ENSMUST00000092070) - c.3445C>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389504289 | 1190 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000084.7:g.12610706A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12610706A>G Locations: - p.Ile1190Val (Ensembl:ENSMUST00000092070) - c.3568A>G (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389445635 | 1206 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000084.7:g.12612833G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12612833G>A Locations: - p.Ala1206Thr (Ensembl:ENSMUST00000092070) - c.3616G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs49963585 | 1224 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12612887G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12612887G>A Locations: - p.Glu1224Lys (Ensembl:ENSMUST00000092070) - c.3670G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389489004 | 1229 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12612902T>A Codon: TGT/AGT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12612902T>A Locations: - p.Cys1229Ser (Ensembl:ENSMUST00000092070) - c.3685T>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389499496 | 1234 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12612917T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12612917T>C Locations: - p.Phe1234Leu (Ensembl:ENSMUST00000092070) - c.3700T>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389445656 | 1237 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000084.7:g.12612927A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12612927A>T Locations: - p.Asp1237Val (Ensembl:ENSMUST00000092070) - c.3710A>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3408290003 | 1248 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12613974T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12613974T>C Locations: - p.Ser1248Pro (Ensembl:ENSMUST00000092070) - c.3742T>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389454571 | 1265 | C>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000084.7:g.12614027C>A Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 18q Genomic location: NC_000084.7:g.12614027C>A Locations: - p.Cys1265Ter (Ensembl:ENSMUST00000092070) - c.3795C>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs49947500 | 1266 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000084.7:g.12614028G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12614028G>A Locations: - p.Asp1266Asn (Ensembl:ENSMUST00000092070) - c.3796G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs51262081 | 1294 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12614114C>G Codon: AGC/AGG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12614114C>G Locations: - p.Ser1294Arg (Ensembl:ENSMUST00000092070) - c.3882C>G (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389490626 | 1310 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12615006A>T Codon: AAT/ATT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12615006A>T Locations: - p.Asn1310Ile (Ensembl:ENSMUST00000092070) - c.3929A>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389435560 | 1316 | C>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000084.7:g.12615025T>A Codon: TGT/TGA Consequence type: stop gained Cytogenetic band: 18q Genomic location: NC_000084.7:g.12615025T>A Locations: - p.Cys1316Ter (Ensembl:ENSMUST00000092070) - c.3948T>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389435578 | 1324 | L>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000084.7:g.12615048T>A Codon: CTC/CAC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12615048T>A Locations: - p.Leu1324His (Ensembl:ENSMUST00000092070) - c.3971T>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389499586 | 1327 | P>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000084.7:g.12615056C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12615056C>G Locations: - p.Pro1327Ala (Ensembl:ENSMUST00000092070) - c.3979C>G (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs51542801 | 1365 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.27) Somatic: No Accession: NC_000084.7:g.12615170G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12615170G>A Locations: - p.Val1365Ile (Ensembl:ENSMUST00000092070) - c.4093G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389454573 | 1375 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12615201G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12615201G>A Locations: - p.Cys1375Tyr (Ensembl:ENSMUST00000092070) - c.4124G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389482163 | 1413 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_000084.7:g.12624085G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12624085G>A Locations: - p.Val1413Ile (Ensembl:ENSMUST00000092070) - c.4237G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3408243659 | 1422 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000084.7:g.12624114G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12624114G>A Locations: - p.Met1422Ile (Ensembl:ENSMUST00000092070) - c.4266G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3408150384 | 1422 | M>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12624113T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12624113T>C Locations: - p.Met1422Thr (Ensembl:ENSMUST00000092070) - c.4265T>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389490226 | 1435 | C>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000084.7:g.12624561T>A Codon: TGT/TGA Consequence type: stop gained Cytogenetic band: 18q Genomic location: NC_000084.7:g.12624561T>A Locations: - p.Cys1435Ter (Ensembl:ENSMUST00000092070) - c.4305T>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3411748309 | 1451 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000084.7:g.12624608C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12624608C>T Locations: - p.Thr1451Ile (Ensembl:ENSMUST00000092070) - c.4352C>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389495186 | 1456 | F>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12624623T>A Codon: TTT/TAT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12624623T>A Locations: - p.Phe1456Tyr (Ensembl:ENSMUST00000092070) - c.4367T>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389445649 | 1458 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000084.7:g.12624628G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12624628G>A Locations: - p.Val1458Met (Ensembl:ENSMUST00000092070) - c.4372G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs1134938063 | 1470 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.58) Somatic: No Accession: NC_000084.7:g.12624665C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12624665C>G Locations: - p.Ala1470Gly (Ensembl:ENSMUST00000092070) - c.4409C>G (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389482202 | 1514 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000084.7:g.12628449T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12628449T>C Locations: - p.Ser1514Pro (Ensembl:ENSMUST00000092070) - c.4540T>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs241023855 | 1544 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000084.7:g.12630996G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12630996G>A Locations: - p.Gly1544Arg (Ensembl:ENSMUST00000092070) - c.4630G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389504309 | 1548 | L>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12631009T>A Codon: CTT/CAT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12631009T>A Locations: - p.Leu1548His (Ensembl:ENSMUST00000092070) - c.4643T>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389504261 | 1586 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12633626A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12633626A>T Locations: - p.Glu1586Val (Ensembl:ENSMUST00000092070) - c.4757A>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389488999 | 1606 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12636048G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12636048G>A Locations: - p.Val1606Met (Ensembl:ENSMUST00000092070) - c.4816G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389504242 | 1620 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12636090T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12636090T>C Locations: - p.Phe1620Leu (Ensembl:ENSMUST00000092070) - c.4858T>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs224812378 | 1639 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000084.7:g.12636148C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12636148C>T Locations: - p.Thr1639Met (Ensembl:ENSMUST00000092070) - c.4916C>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389488995 | 1672 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12640002G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12640002G>T Locations: - p.Asp1672Tyr (Ensembl:ENSMUST00000092070) - c.5014G>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389488646 | 1675 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000084.7:g.12640011A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12640011A>G Locations: - p.Ser1675Gly (Ensembl:ENSMUST00000092070) - c.5023A>G (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389490162 | 1738 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000084.7:g.12643616G>C Codon: AGT/ACT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12643616G>C Locations: - p.Ser1738Thr (Ensembl:ENSMUST00000092070) - c.5213G>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389435569 | 1739 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12646704T>G Codon: TTT/TTG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12646704T>G Locations: - p.Phe1739Leu (Ensembl:ENSMUST00000092070) - c.5217T>G (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389496899 | 1749 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000084.7:g.12646733C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12646733C>T Locations: - p.Ala1749Val (Ensembl:ENSMUST00000092070) - c.5246C>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389488658 | 1762 | Q>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12646772A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12646772A>C Locations: - p.Gln1762Pro (Ensembl:ENSMUST00000092070) - c.5285A>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389468684 | 1766 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12649541G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12649541G>A Locations: - p.Cys1766Tyr (Ensembl:ENSMUST00000092070) - c.5297G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389398590 | 1767 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12649543G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12649543G>A Locations: - p.Ala1767Thr (Ensembl:ENSMUST00000092070) - c.5299G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389445646 | 1774 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12649565C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12649565C>A Locations: - p.Pro1774His (Ensembl:ENSMUST00000092070) - c.5321C>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389482237 | 1791 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000084.7:g.12649617G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12649617G>C Locations: - p.Gln1791His (Ensembl:ENSMUST00000092070) - c.5373G>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3508152694 | 1823 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: NC_000084.7:g.12652931T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12652931T>C Locations: - p.Val1823Ala (Ensembl:ENSMUST00000092070) - c.5468T>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs250999052 | 1849 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12653008G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12653008G>A Locations: - p.Val1849Met (Ensembl:ENSMUST00000092070) - c.5545G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389483344 | 1869 | N>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000084.7:g.12657563A>C Codon: AAC/CAC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12657563A>C Locations: - p.Asn1869His (Ensembl:ENSMUST00000092070) - c.5605A>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389398570 | 1881 | H>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000084.7:g.12657600A>T Codon: CAT/CTT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12657600A>T Locations: - p.His1881Leu (Ensembl:ENSMUST00000092070) - c.5642A>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3553546722 | 1885 | M>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000084.7:g.12657611A>C Codon: ATG/CTG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12657611A>C Locations: - p.Met1885Leu (Ensembl:ENSMUST00000092070) - c.5653A>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs48521401 | 1887 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.82) Somatic: No Accession: NC_000084.7:g.12657618A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12657618A>G Locations: - p.Asp1887Gly (Ensembl:ENSMUST00000092070) - c.5660A>G (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389483400 | 1898 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000084.7:g.12657652A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12657652A>C Locations: - p.Glu1898Asp (Ensembl:ENSMUST00000092070) - c.5694A>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389454660 | 1898 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000084.7:g.12657650G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12657650G>A Locations: - p.Glu1898Lys (Ensembl:ENSMUST00000092070) - c.5692G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389489055 | 1924 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.59) Somatic: No Accession: NC_000084.7:g.12657838T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12657838T>C Locations: - p.Ile1924Thr (Ensembl:ENSMUST00000092070) - c.5771T>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389435571 | 1929 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000084.7:g.12657852G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 18q Genomic location: NC_000084.7:g.12657852G>T Locations: - p.Glu1929Ter (Ensembl:ENSMUST00000092070) - c.5785G>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3553446995 | 1949 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000084.7:g.12658084G>T Codon: GCG/TCG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12658084G>T Locations: - p.Ala1949Ser (Ensembl:ENSMUST00000092070) - c.5845G>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3408142582 | 1952 | G>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000084.7:g.12658094G>C Codon: GGT/GCT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12658094G>C Locations: - p.Gly1952Ala (Ensembl:ENSMUST00000092070) - c.5855G>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3408221610 | 1952 | G>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000084.7:g.12658093G>T Codon: GGT/TGT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12658093G>T Locations: - p.Gly1952Cys (Ensembl:ENSMUST00000092070) - c.5854G>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3553564566 | 1969 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000084.7:g.12658144G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12658144G>A Locations: - p.Glu1969Lys (Ensembl:ENSMUST00000092070) - c.5905G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389504264 | 2037 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000084.7:g.12658954T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12658954T>C Locations: - p.Ser2037Pro (Ensembl:ENSMUST00000092070) - c.6109T>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3553463869 | 2091 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000084.7:g.12660685C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12660685C>G Locations: - p.Thr2091Ser (Ensembl:ENSMUST00000092070) - c.6272C>G (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs252324773 | 2113 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000084.7:g.12661380A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12661380A>G Locations: - p.Asn2113Ser (Ensembl:ENSMUST00000092070) - c.6338A>G (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs219142973 | 2115 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000084.7:g.12661386C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12661386C>T Locations: - p.Ala2115Val (Ensembl:ENSMUST00000092070) - c.6344C>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3407206246 | 2184 | R>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12661856G>T Codon: AGA/ATA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12661856G>T Locations: - p.Arg2184Ile (Ensembl:ENSMUST00000092070) - c.6551G>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389488611 | 2212 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12662590A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12662590A>G Locations: - p.Arg2212Gly (Ensembl:ENSMUST00000092070) - c.6634A>G (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389454597 | 2213 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12662593G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12662593G>A Locations: - p.Ala2213Thr (Ensembl:ENSMUST00000092070) - c.6637G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3408176238 | 2215 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_000084.7:g.12662599A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12662599A>C Locations: - p.Thr2215Pro (Ensembl:ENSMUST00000092070) - c.6643A>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs242820132 | 2258 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.52) Somatic: No Accession: NC_000084.7:g.12664954C>A Codon: CTA/ATA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12664954C>A Locations: - p.Leu2258Ile (Ensembl:ENSMUST00000092070) - c.6772C>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3408176284 | 2263 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.38) Somatic: No Accession: NC_000084.7:g.12664969A>T Codon: ACT/TCT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12664969A>T Locations: - p.Thr2263Ser (Ensembl:ENSMUST00000092070) - c.6787A>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs252419899 | 2263 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.38) Somatic: No Accession: NC_000084.7:g.12664970C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12664970C>G Locations: - p.Thr2263Ser (Ensembl:ENSMUST00000092070) - c.6788C>G (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3406378242 | 2265 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.39) Somatic: No Accession: NC_000084.7:g.12664975G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12664975G>T Locations: - p.Ala2265Ser (Ensembl:ENSMUST00000092070) - c.6793G>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3408594355 | 2266 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000084.7:g.12664979G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12664979G>A Locations: - p.Arg2266His (Ensembl:ENSMUST00000092070) - c.6797G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3408176291 | 2267 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000084.7:g.12664983T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12664983T>A Locations: - p.Asp2267Glu (Ensembl:ENSMUST00000092070) - c.6801T>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3407284144 | 2272 | I>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12664997T>A Codon: ATA/AAA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12664997T>A Locations: - p.Ile2272Lys (Ensembl:ENSMUST00000092070) - c.6815T>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3407284207 | 2272 | I>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000084.7:g.12664996A>C Codon: ATA/CTA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12664996A>C Locations: - p.Ile2272Leu (Ensembl:ENSMUST00000092070) - c.6814A>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3408176264 | 2274 | R>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000084.7:g.12665002A>T Codon: AGA/TGA Consequence type: stop gained Cytogenetic band: 18q Genomic location: NC_000084.7:g.12665002A>T Locations: - p.Arg2274Ter (Ensembl:ENSMUST00000092070) - c.6820A>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389482196 | 2275 | G>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000084.7:g.12665005G>T Codon: GGT/TGT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12665005G>T Locations: - p.Gly2275Cys (Ensembl:ENSMUST00000092070) - c.6823G>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389504295 | 2281 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12665108G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12665108G>A Locations: - p.Val2281Met (Ensembl:ENSMUST00000092070) - c.6841G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389490673 | 2295 | T>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000084.7:g.12665151C>A Codon: ACA/AAA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12665151C>A Locations: - p.Thr2295Lys (Ensembl:ENSMUST00000092070) - c.6884C>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389483379 | 2317 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000084.7:g.12665218G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12665218G>C Locations: - p.Glu2317Asp (Ensembl:ENSMUST00000092070) - c.6951G>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389488597 | 2391 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12670768G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12670768G>A Locations: - p.Gly2391Ser (Ensembl:ENSMUST00000092070) - c.7171G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389468679 | 2392 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.4) Somatic: No Accession: NC_000084.7:g.12670773A>T Codon: AAA/AAT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12670773A>T Locations: - p.Lys2392Asn (Ensembl:ENSMUST00000092070) - c.7176A>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3408142569 | 2415 | F>C | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000084.7:g.12670840_12670841insGTGTATCCTTTTAAATC Codon: TTT/TGTGTATCCTTTTAAATCTT Consequence type: stop gained Cytogenetic band: 18q Genomic location: NC_000084.7:g.12670840_12670841insGTGTATCCTTTTAAATC Locations: - p.Phe2415CysfsTer5 (Ensembl:ENSMUST00000092070) - c.7243_7244insGTGTATCCTTTTAAATC (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3413021106 | 2426 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.76) Somatic: No Accession: NC_000084.7:g.12670873G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12670873G>C Locations: - p.Gly2426Arg (Ensembl:ENSMUST00000092070) - c.7276G>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389447039 | 2443 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000084.7:g.12672737C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12672737C>A Locations: - p.Asp2443Glu (Ensembl:ENSMUST00000092070) - c.7329C>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3408067229 | 2471 | Q>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.52) Somatic: No Accession: NC_000084.7:g.12672820A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12672820A>C Locations: - p.Gln2471Pro (Ensembl:ENSMUST00000092070) - c.7412A>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389490668 | 2507 | K>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000084.7:g.12673069A>T Codon: AAA/ATA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12673069A>T Locations: - p.Lys2507Ile (Ensembl:ENSMUST00000092070) - c.7520A>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs46232635 | 2519 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000084.7:g.12673104G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12673104G>A Locations: - p.Ala2519Thr (Ensembl:ENSMUST00000092070) - c.7555G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389435564 | 2522 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000084.7:g.12673114A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12673114A>G Locations: - p.Asn2522Ser (Ensembl:ENSMUST00000092070) - c.7565A>G (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs247577763 | 2532 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000084.7:g.12673143G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12673143G>T Locations: - p.Ala2532Ser (Ensembl:ENSMUST00000092070) - c.7594G>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389504308 | 2569 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000084.7:g.12673666C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12673666C>A Locations: - p.Ser2569Arg (Ensembl:ENSMUST00000092070) - c.7707C>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389454601 | 2571 | Y>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12673670T>A Codon: TAC/AAC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12673670T>A Locations: - p.Tyr2571Asn (Ensembl:ENSMUST00000092070) - c.7711T>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389504272 | 2586 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12673716C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12673716C>T Locations: - p.Pro2586Leu (Ensembl:ENSMUST00000092070) - c.7757C>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389499530 | 2639 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.86) Somatic: No Accession: NC_000084.7:g.12680404C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12680404C>A Locations: - p.Asn2639Lys (Ensembl:ENSMUST00000092070) - c.7917C>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389435552 | 2649 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.57) Somatic: No Accession: NC_000084.7:g.12680433A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12680433A>G Locations: - p.Asn2649Ser (Ensembl:ENSMUST00000092070) - c.7946A>G (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389454632 | 2658 | S>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000084.7:g.12680460C>A Codon: TCA/TAA Consequence type: stop gained Cytogenetic band: 18q Genomic location: NC_000084.7:g.12680460C>A Locations: - p.Ser2658Ter (Ensembl:ENSMUST00000092070) - c.7973C>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389496945 | 2659 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000084.7:g.12680462G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 18q Genomic location: NC_000084.7:g.12680462G>T Locations: - p.Glu2659Ter (Ensembl:ENSMUST00000092070) - c.7975G>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389490175 | 2659 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000084.7:g.12680464G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12680464G>T Locations: - p.Glu2659Asp (Ensembl:ENSMUST00000092070) - c.7977G>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs244478177 | 2685 | S>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.57) Somatic: No Accession: NC_000084.7:g.12682271C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12682271C>T Locations: - p.Ser2685Leu (Ensembl:ENSMUST00000092070) - c.8054C>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389499549 | 2739 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000084.7:g.12685885A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12685885A>G Locations: - p.Lys2739Arg (Ensembl:ENSMUST00000092070) - c.8216A>G (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389468661 | 2754 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000084.7:g.12685929A>T Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 18q Genomic location: NC_000084.7:g.12685929A>T Locations: - p.Lys2754Ter (Ensembl:ENSMUST00000092070) - c.8260A>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389468659 | 2759 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000084.7:g.12685946C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12685946C>G Locations: - p.Asp2759Glu (Ensembl:ENSMUST00000092070) - c.8277C>G (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3411748316 | 2764 | R>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000084.7:g.12686228C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 18q Genomic location: NC_000084.7:g.12686228C>T Locations: - p.Arg2764Ter (Ensembl:ENSMUST00000092070) - c.8290C>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3553482197 | 2766 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000084.7:g.12686234G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12686234G>A Locations: - p.Ala2766Thr (Ensembl:ENSMUST00000092070) - c.8296G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs232007879 | 2781 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000084.7:g.12686279G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12686279G>A Locations: - p.Val2781Met (Ensembl:ENSMUST00000092070) - c.8341G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs260536187 | 2783 | S>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.75) Somatic: No Accession: NC_000084.7:g.12686286C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12686286C>T Locations: - p.Ser2783Leu (Ensembl:ENSMUST00000092070) - c.8348C>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389490694 | 2797 | Q>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000084.7:g.12686327C>A Codon: CAA/AAA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12686327C>A Locations: - p.Gln2797Lys (Ensembl:ENSMUST00000092070) - c.8389C>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389479512 | 2797 | Q>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000084.7:g.12686328A>T Codon: CAA/CTA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12686328A>T Locations: - p.Gln2797Leu (Ensembl:ENSMUST00000092070) - c.8390A>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389496938 | 2799 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.38) Somatic: No Accession: NC_000084.7:g.12686334G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12686334G>A Locations: - p.Ser2799Asn (Ensembl:ENSMUST00000092070) - c.8396G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389489015 | 2799 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000084.7:g.12686333A>C Codon: AGC/CGC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12686333A>C Locations: - p.Ser2799Arg (Ensembl:ENSMUST00000092070) - c.8395A>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3408221625 | 2802 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12686343T>C Codon: CTA/CCA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12686343T>C Locations: - p.Leu2802Pro (Ensembl:ENSMUST00000092070) - c.8405T>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389490643 | 2805 | H>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000084.7:g.12686352A>T Codon: CAT/CTT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12686352A>T Locations: - p.His2805Leu (Ensembl:ENSMUST00000092070) - c.8414A>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389482181 | 2806 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000084.7:g.12686356G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12686356G>C Locations: - p.Gln2806His (Ensembl:ENSMUST00000092070) - c.8418G>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389499502 | 2807 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.53) Somatic: No Accession: NC_000084.7:g.12686357A>T Codon: ACA/TCA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12686357A>T Locations: - p.Thr2807Ser (Ensembl:ENSMUST00000092070) - c.8419A>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs51235057 | 2811 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.38) Somatic: No Accession: NC_000084.7:g.12689690A>C Codon: AGC/CGC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12689690A>C Locations: - p.Ser2811Arg (Ensembl:ENSMUST00000092070) - c.8431A>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs46393613 | 2812 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000084.7:g.12689694T>G Codon: CTA/CGA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12689694T>G Locations: - p.Leu2812Arg (Ensembl:ENSMUST00000092070) - c.8435T>G (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389504299 | 2819 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000084.7:g.12689715G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12689715G>A Locations: - p.Gly2819Asp (Ensembl:ENSMUST00000092070) - c.8456G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs47760312 | 2822 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.32) Somatic: No Accession: NC_000084.7:g.12689724C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12689724C>T Locations: - p.Ala2822Val (Ensembl:ENSMUST00000092070) - c.8465C>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs232482681 | 2824 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000084.7:g.12689729A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12689729A>G Locations: - p.Ser2824Gly (Ensembl:ENSMUST00000092070) - c.8470A>G (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs51553644 | 2829 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.42) Somatic: No Accession: NC_000084.7:g.12689745G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12689745G>A Locations: - p.Ser2829Asn (Ensembl:ENSMUST00000092070) - c.8486G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3553482101 | 2861 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12690744G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12690744G>A Locations: - p.Asp2861Asn (Ensembl:ENSMUST00000092070) - c.8581G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389490629 | 2868 | N>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.46) Somatic: No Accession: NC_000084.7:g.12690765A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12690765A>G Locations: - p.Asn2868Asp (Ensembl:ENSMUST00000092070) - c.8602A>G (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389454614 | 2950 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: NC_000084.7:g.12694906A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12694906A>G Locations: - p.Gln2950Arg (Ensembl:ENSMUST00000092070) - c.8849A>G (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389479555 | 2951 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: NC_000084.7:g.12700723C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12700723C>A Locations: - p.Leu2951Met (Ensembl:ENSMUST00000092070) - c.8851C>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs262107015 | 2953 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000084.7:g.12700731A>C Codon: CAA/CAC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12700731A>C Locations: - p.Gln2953His (Ensembl:ENSMUST00000092070) - c.8859A>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389504243 | 2954 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000084.7:g.12700733A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12700733A>T Locations: - p.Asp2954Val (Ensembl:ENSMUST00000092070) - c.8861A>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389489008 | 2955 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.29) Somatic: No Accession: NC_000084.7:g.12700736C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12700736C>T Locations: - p.Ala2955Val (Ensembl:ENSMUST00000092070) - c.8864C>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389496972 | 2957 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000084.7:g.12700743G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12700743G>T Locations: - p.Gln2957His (Ensembl:ENSMUST00000092070) - c.8871G>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs225109099 | 2964 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.81) Somatic: No Accession: NC_000084.7:g.12700763C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12700763C>T Locations: - p.Ala2964Val (Ensembl:ENSMUST00000092070) - c.8891C>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389447068 | 2983 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000084.7:g.12700820C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12700820C>T Locations: - p.Ala2983Val (Ensembl:ENSMUST00000092070) - c.8948C>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389488673 | 3010 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12704968C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12704968C>T Locations: - p.Ser3010Phe (Ensembl:ENSMUST00000092070) - c.9029C>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389490188 | 3012 | D>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12704973G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12704973G>C Locations: - p.Asp3012His (Ensembl:ENSMUST00000092070) - c.9034G>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs47935928 | 3028 | R>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000084.7:g.12705022G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12705022G>A Locations: - p.Arg3028Lys (Ensembl:ENSMUST00000092070) - c.9083G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs265296747 | 3032 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000084.7:g.12705033G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12705033G>A Locations: - p.Val3032Met (Ensembl:ENSMUST00000092070) - c.9094G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389490704 | 3066 | H>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12705135C>G Codon: CAC/GAC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12705135C>G Locations: - p.His3066Asp (Ensembl:ENSMUST00000092070) - c.9196C>G (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs240187739 | 3067 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000084.7:g.12705138T>A Codon: TCG/ACG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12705138T>A Locations: - p.Ser3067Thr (Ensembl:ENSMUST00000092070) - c.9199T>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs219175932 | 3072 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: NC_000084.7:g.12707284T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12707284T>C Locations: - p.Leu3072Pro (Ensembl:ENSMUST00000092070) - c.9215T>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389483361 | 3075 | R>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000084.7:g.12707292A>T Codon: AGA/TGA Consequence type: stop gained Cytogenetic band: 18q Genomic location: NC_000084.7:g.12707292A>T Locations: - p.Arg3075Ter (Ensembl:ENSMUST00000092070) - c.9223A>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs239707597 | 3077 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.44) Somatic: No Accession: NC_000084.7:g.12707299T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12707299T>C Locations: - p.Val3077Ala (Ensembl:ENSMUST00000092070) - c.9230T>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs220571512 | 3086 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000084.7:g.12707326C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12707326C>T Locations: - p.Ala3086Val (Ensembl:ENSMUST00000092070) - c.9257C>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs238927617 | 3090 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000084.7:g.12707338G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12707338G>A Locations: - p.Ser3090Asn (Ensembl:ENSMUST00000092070) - c.9269G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3408595558 | 3104 | Y>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12707379T>A Codon: TAC/AAC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12707379T>A Locations: - p.Tyr3104Asn (Ensembl:ENSMUST00000092070) - c.9310T>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389490228 | 3123 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12710833G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12710833G>A Locations: - p.Gly3123Arg (Ensembl:ENSMUST00000092070) - c.9367G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs225160371 | 3133 | K>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000084.7:g.12710863A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12710863A>C Locations: - p.Lys3133Gln (Ensembl:ENSMUST00000092070) - c.9397A>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs30214284 | 3174 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000084.7:g.12711089A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12711089A>G Locations: - p.Glu3174Gly (Ensembl:ENSMUST00000092070) - c.9521A>G (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389435583 | 3177 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000084.7:g.12711097C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12711097C>T Locations: - p.Leu3177Phe (Ensembl:ENSMUST00000092070) - c.9529C>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs227459900 | 3178 | T>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.87) Somatic: No Accession: NC_000084.7:g.12711101C>A Codon: ACG/AAG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12711101C>A Locations: - p.Thr3178Lys (Ensembl:ENSMUST00000092070) - c.9533C>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs213401879 | 3201 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_000084.7:g.12711171G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12711171G>T Locations: - p.Glu3201Asp (Ensembl:ENSMUST00000092070) - c.9603G>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389504248 | 3208 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.34) Somatic: No Accession: NC_000084.7:g.12711190G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12711190G>A Locations: - p.Glu3208Lys (Ensembl:ENSMUST00000092070) - c.9622G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3389479549 | 3224 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.25) Somatic: No Accession: NC_000084.7:g.12713379G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12713379G>A Locations: - p.Val3224Met (Ensembl:ENSMUST00000092070) - c.9670G>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs224953096 | 3283 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000084.7:g.12715576C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12715576C>G Locations: - p.Asp3283Glu (Ensembl:ENSMUST00000092070) - c.9849C>G (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3553565753 | 3287 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000084.7:g.12715588G>T Codon: ATG/ATT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12715588G>T Locations: - p.Met3287Ile (Ensembl:ENSMUST00000092070) - c.9861G>T (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3408150416 | 3289 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.34) Somatic: No Accession: NC_000084.7:g.12715592A>C Codon: ACA/CCA Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12715592A>C Locations: - p.Thr3289Pro (Ensembl:ENSMUST00000092070) - c.9865A>C (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3406378214 | 3290 | L>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000084.7:g.12715596T>A Codon: CTC/CAC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12715596T>A Locations: - p.Leu3290His (Ensembl:ENSMUST00000092070) - c.9869T>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3407892673 | 3291 | P>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12715599C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12715599C>G Locations: - p.Pro3291Arg (Ensembl:ENSMUST00000092070) - c.9872C>G (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3407597892 | 3291 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12715598C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12715598C>A Locations: - p.Pro3291Thr (Ensembl:ENSMUST00000092070) - c.9871C>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3408317444 | 3292 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12715602T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12715602T>A Locations: - p.Val3292Glu (Ensembl:ENSMUST00000092070) - c.9875T>A (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: | |||||||
rs3408221611 | 3322 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000084.7:g.12715692T>G Codon: GTC/GGC Consequence type: missense Cytogenetic band: 18q Genomic location: NC_000084.7:g.12715692T>G Locations: - p.Val3322Gly (Ensembl:ENSMUST00000092070) - c.9965T>G (Ensembl:ENSMUST00000092070) Source type: large scale study Cross-references: |