P01614 · KVD40_HUMAN
- ProteinImmunoglobulin kappa variable 2D-40
- GeneIGKV2D-40
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids121 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score4/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs762651370 | 2 | R>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000002.12:g.89851762G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89851762G>A Locations: - p.Arg2Lys (Ensembl:ENST00000429992) - c.5G>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1413770579 | 2 | R>S | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89851763G>C, NC_000002.12:g.89851763G>T Codon: AGG/AGC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89851763G>C, NC_000002.12:g.89851763G>T Locations: - p.Arg2Ser (Ensembl:ENST00000429992) - c.6G>C (Ensembl:ENST00000429992) - c.6G>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs762651370 | 2 | R>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.89851762G>C Codon: AGG/ACG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89851762G>C Locations: - p.Arg2Thr (Ensembl:ENST00000429992) - c.5G>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1293578008 | 3 | L>F | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000002.12:g.89851764C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89851764C>T Locations: - p.Leu3Phe (Ensembl:ENST00000429992) - c.7C>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
TCGA novel rs1674154229 | 3 | W>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.251) - SIFT: deleterious (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89851798G>T Codon: TGG/TTG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89851798G>T Locations: - c.8G>T (NCI-TCGA:ENST00000429992) - p.W3L (NCI-TCGA:ENST00000429992) - p.Trp14Leu (Ensembl:ENST00000429992) - c.41G>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs767837409 | 4 | P>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.89851767C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89851767C>G Locations: - p.Pro4Ala (Ensembl:ENST00000429992) - c.10C>G (Ensembl:ENST00000429992) Source type: large scale study | |||||||
rs750588007 | 4 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.89851768C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89851768C>T Locations: - p.Pro4Leu (Ensembl:ENST00000429992) - c.11C>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs750588007 | 4 | P>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.89851768C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89851768C>G Locations: - p.Pro4Arg (Ensembl:ENST00000429992) - c.11C>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs767837409 | 4 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000002.12:g.89851767C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89851767C>T Locations: - p.Pro4Ser (Ensembl:ENST00000429992) - c.10C>T (Ensembl:ENST00000429992) Source type: large scale study | |||||||
rs1196955785 | 5 | A>D | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89851771C>A Codon: GCT/GAT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89851771C>A Locations: - p.Ala5Asp (Ensembl:ENST00000429992) - c.14C>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1339318786 | 5 | A>P | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89851770G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89851770G>C Locations: - p.Ala5Pro (Ensembl:ENST00000429992) - c.13G>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1196955785 | 5 | A>V | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000002.12:g.89851771C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89851771C>T Locations: - p.Ala5Val (Ensembl:ENST00000429992) - c.14C>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs766404398 | 7 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000002.12:g.89851776C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89851776C>T Locations: - p.Leu7Phe (Ensembl:ENST00000429992) - c.19C>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs766404398 | 7 | L>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.89851776C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89851776C>A Locations: - p.Leu7Ile (Ensembl:ENST00000429992) - c.19C>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs766404398 | 7 | L>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89851776C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89851776C>G Locations: - p.Leu7Val (Ensembl:ENST00000429992) - c.19C>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1222360607 | 9 | G>E | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89851783G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89851783G>A Locations: - p.Gly9Glu (Ensembl:ENST00000429992) - c.26G>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs755416111 | 9 | G>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.89851782G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89851782G>A Locations: - p.Gly9Arg (Ensembl:ENST00000429992) - c.25G>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1292456090 | 12 | M>L | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.33) Somatic: No Accession: NC_000002.12:g.89851791A>C, NC_000002.12:g.89851791A>T Codon: ATG/CTG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89851791A>C, NC_000002.12:g.89851791A>T Locations: - p.Met12Leu (Ensembl:ENST00000429992) - c.34A>C (Ensembl:ENST00000429992) - c.34A>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs753168477 | 12 | M>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89851792T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89851792T>C Locations: - p.Met12Thr (Ensembl:ENST00000429992) - c.35T>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs527754599 | 13 | L>F | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000002.12:g.89851794C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89851794C>T Locations: - p.Leu13Phe (Ensembl:ENST00000429992) - c.37C>T (Ensembl:ENST00000429992) Source type: large scale study | |||||||
rs527754599 | 13 | L>I | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89851794C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89851794C>A Locations: - p.Leu13Ile (Ensembl:ENST00000429992) - c.37C>A (Ensembl:ENST00000429992) Source type: large scale study | |||||||
rs746623940 | 14 | W>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.89851799G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89851799G>A Locations: - p.Trp14Ter (Ensembl:ENST00000429992) - c.42G>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs746623940 | 14 | W>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000002.12:g.89851799G>T Codon: TGG/TGT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89851799G>T Locations: - p.Trp14Cys (Ensembl:ENST00000429992) - c.42G>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1278460417 | 14 | W>R | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89851797T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89851797T>C Locations: - p.Trp14Arg (Ensembl:ENST00000429992) - c.40T>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs766023889 | 15 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000002.12:g.89851800G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89851800G>A Locations: - p.Val15Ile (Ensembl:ENST00000429992) - c.43G>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs769920505 | 16 | P>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89851804C>A Codon: CCT/CAT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89851804C>A Locations: - p.Pro16His (Ensembl:ENST00000429992) - c.47C>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs769920505 | 16 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.89851804C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89851804C>T Locations: - p.Pro16Leu (Ensembl:ENST00000429992) - c.47C>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs769920505 | 16 | P>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89851804C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89851804C>G Locations: - p.Pro16Arg (Ensembl:ENST00000429992) - c.47C>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs745805764 | 16 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000002.12:g.89851803C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89851803C>T Locations: - p.Pro16Ser (Ensembl:ENST00000429992) - c.46C>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs762855503 | 17 | G>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.89851806G>T Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89851806G>T Locations: - p.Gly17Ter (Ensembl:ENST00000429992) - c.49G>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs762855503 | 17 | G>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89851806G>A, NC_000002.12:g.89851806G>C Codon: GGA/AGA Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89851806G>A, NC_000002.12:g.89851806G>C Locations: - p.Gly17Arg (Ensembl:ENST00000429992) - c.49G>A (Ensembl:ENST00000429992) - c.49G>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674174956 | 17 | G>V | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.89852178G>T Codon: GGA/GTA Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852178G>T Locations: - p.Gly17Val (Ensembl:ENST00000429992) - c.50G>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1359769742 | 19 | S>G | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000002.12:g.89852183A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852183A>G Locations: - p.Ser19Gly (Ensembl:ENST00000429992) - c.55A>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674175126 | 19 | S>R | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000002.12:g.89852185T>G Codon: AGT/AGG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852185T>G Locations: - p.Ser19Arg (Ensembl:ENST00000429992) - c.57T>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1359769742 | 19 | S>R | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000002.12:g.89852183A>C Codon: AGT/CGT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852183A>C Locations: - p.Ser19Arg (Ensembl:ENST00000429992) - c.55A>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674175182 | 20 | E>G | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000002.12:g.89852187A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852187A>G Locations: - p.Glu20Gly (Ensembl:ENST00000429992) - c.59A>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674175234 | 21 | D>N | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.89852189G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852189G>A Locations: - p.Asp21Asn (Ensembl:ENST00000429992) - c.61G>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs539351685 | 21 | D>V | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89852190A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852190A>T Locations: - p.Asp21Val (Ensembl:ENST00000429992) - c.62A>T (Ensembl:ENST00000429992) Source type: large scale study | |||||||
rs1674175234 | 21 | D>Y | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852189G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852189G>T Locations: - p.Asp21Tyr (Ensembl:ENST00000429992) - c.61G>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs2104286825 | 22 | I>F | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852192A>T Codon: ATT/TTT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852192A>T Locations: - p.Ile22Phe (Ensembl:ENST00000429992) - c.64A>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs767327566 | 22 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000002.12:g.89852193T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852193T>C Locations: - p.Ile22Thr (Ensembl:ENST00000429992) - c.65T>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674175547 | 23 | V>G | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89852196T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852196T>G Locations: - p.Val23Gly (Ensembl:ENST00000429992) - c.68T>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1214214331 | 23 | V>L | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000002.12:g.89852195G>C, NC_000002.12:g.89852195G>T Codon: GTG/CTG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852195G>C, NC_000002.12:g.89852195G>T Locations: - p.Val23Leu (Ensembl:ENST00000429992) - c.67G>C (Ensembl:ENST00000429992) - c.67G>T (Ensembl:ENST00000429992) Source type: large scale study | |||||||
rs1214214331 | 23 | V>M | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.89852195G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852195G>A Locations: - p.Val23Met (Ensembl:ENST00000429992) - c.67G>A (Ensembl:ENST00000429992) Source type: large scale study | |||||||
rs1558865942 | 24 | M>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852199T>G Codon: ATG/AGG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852199T>G Locations: - p.Met24Arg (Ensembl:ENST00000429992) - c.71T>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1558865942 | 24 | M>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852199T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852199T>C Locations: - p.Met24Thr (Ensembl:ENST00000429992) - c.71T>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674175593 | 24 | M>V | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89852198A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852198A>G Locations: - p.Met24Val (Ensembl:ENST00000429992) - c.70A>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1267181184 | 25 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.89852202C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852202C>T Locations: - p.Thr25Ile (Ensembl:ENST00000429992) - c.74C>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1267181184 | 25 | T>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852202C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852202C>A Locations: - p.Thr25Asn (Ensembl:ENST00000429992) - c.74C>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1573300646 | 25 | T>P | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852201A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852201A>C Locations: - p.Thr25Pro (Ensembl:ENST00000429992) - c.73A>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1194751993 | 27 | T>A | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000002.12:g.89852207A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852207A>G Locations: - p.Thr27Ala (Ensembl:ENST00000429992) - c.79A>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1194751993 | 27 | T>P | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89852207A>C Codon: ACT/CCT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852207A>C Locations: - p.Thr27Pro (Ensembl:ENST00000429992) - c.79A>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1194751993 | 27 | T>S | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.32) Somatic: No Accession: NC_000002.12:g.89852207A>T Codon: ACT/TCT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852207A>T Locations: - p.Thr27Ser (Ensembl:ENST00000429992) - c.79A>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1250714948 | 28 | P>R | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89852211C>G Codon: CCA/CGA Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852211C>G Locations: - p.Pro28Arg (Ensembl:ENST00000429992) - c.83C>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1369280241 | 28 | P>T | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89852210C>A Codon: CCA/ACA Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852210C>A Locations: - p.Pro28Thr (Ensembl:ENST00000429992) - c.82C>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674176154 | 29 | L>F | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.89852213C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852213C>T Locations: - p.Leu29Phe (Ensembl:ENST00000429992) - c.85C>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs371460444 | 29 | L>P | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89852214T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852214T>C Locations: - p.Leu29Pro (Ensembl:ENST00000429992) - c.86T>C (Ensembl:ENST00000429992) Source type: large scale study | |||||||
rs371460444 | 29 | L>R | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852214T>G Codon: CTC/CGC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852214T>G Locations: - p.Leu29Arg (Ensembl:ENST00000429992) - c.86T>G (Ensembl:ENST00000429992) Source type: large scale study | |||||||
rs1456865381 | 30 | S>F | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.89852217C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852217C>T Locations: - p.Ser30Phe (Ensembl:ENST00000429992) - c.89C>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1185429815 | 30 | S>P | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89852216T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852216T>C Locations: - p.Ser30Pro (Ensembl:ENST00000429992) - c.88T>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1475107195 | 31 | L>R | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89852220T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852220T>G Locations: - p.Leu31Arg (Ensembl:ENST00000429992) - c.92T>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1352142951 | 32 | P>S | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.46) Somatic: No Accession: NC_000002.12:g.89852222C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852222C>T Locations: - p.Pro32Ser (Ensembl:ENST00000429992) - c.94C>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1297683895 | 33 | V>F | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852225G>T Codon: GTC/TTC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852225G>T Locations: - p.Val33Phe (Ensembl:ENST00000429992) - c.97G>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1297683895 | 33 | V>I | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000002.12:g.89852225G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852225G>A Locations: - p.Val33Ile (Ensembl:ENST00000429992) - c.97G>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1397386277 | 34 | T>I | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000002.12:g.89852229C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852229C>T Locations: - p.Thr34Ile (Ensembl:ENST00000429992) - c.101C>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1397386277 | 34 | T>N | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.89852229C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852229C>A Locations: - p.Thr34Asn (Ensembl:ENST00000429992) - c.101C>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1573300700 | 34 | T>P | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89852228A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852228A>C Locations: - p.Thr34Pro (Ensembl:ENST00000429992) - c.100A>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1573300700 | 34 | T>S | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000002.12:g.89852228A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852228A>T Locations: - p.Thr34Ser (Ensembl:ENST00000429992) - c.100A>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1411875744 | 35 | P>A | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000002.12:g.89852231C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852231C>G Locations: - p.Pro35Ala (Ensembl:ENST00000429992) - c.103C>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1291710019 | 35 | P>L | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NC_000002.12:g.89852232C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852232C>T Locations: - p.Pro35Leu (Ensembl:ENST00000429992) - c.104C>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1291710019 | 35 | P>R | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852232C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852232C>G Locations: - p.Pro35Arg (Ensembl:ENST00000429992) - c.104C>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1411875744 | 35 | P>S | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000002.12:g.89852231C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852231C>T Locations: - p.Pro35Ser (Ensembl:ENST00000429992) - c.103C>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1411875744 | 35 | P>T | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000002.12:g.89852231C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852231C>A Locations: - p.Pro35Thr (Ensembl:ENST00000429992) - c.103C>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1197051593 | 36 | G>R | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.89852234G>C, NC_000002.12:g.89852234G>A Codon: GGA/CGA Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852234G>C, NC_000002.12:g.89852234G>A Locations: - p.Gly36Arg (Ensembl:ENST00000429992) - c.106G>C (Ensembl:ENST00000429992) - c.106G>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1354541568 | 37 | E>K | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.89852237G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852237G>A Locations: - p.Glu37Lys (Ensembl:ENST00000429992) - c.109G>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1233699932 | 38 | P>L | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000002.12:g.89852241C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852241C>T Locations: - p.Pro38Leu (Ensembl:ENST00000429992) - c.113C>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1233699932 | 38 | P>Q | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000002.12:g.89852241C>A Codon: CCG/CAG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852241C>A Locations: - p.Pro38Gln (Ensembl:ENST00000429992) - c.113C>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1405758440 | 39 | A>T | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.89852243G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852243G>A Locations: - p.Ala39Thr (Ensembl:ENST00000429992) - c.115G>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1476991791 | 40 | S>F | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852247C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852247C>T Locations: - p.Ser40Phe (Ensembl:ENST00000429992) - c.119C>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674177524 | 41 | I>F | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89852249A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852249A>T Locations: - p.Ile41Phe (Ensembl:ENST00000429992) - c.121A>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1226688578 | 42 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852253C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852253C>G Locations: - p.Ser42Cys (Ensembl:ENST00000429992) - c.125C>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1226688578 | 42 | S>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852253C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852253C>T Locations: - p.Ser42Phe (Ensembl:ENST00000429992) - c.125C>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1208236489 | 43 | C>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.89852257C>A Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852257C>A Locations: - p.Cys43Ter (Ensembl:ENST00000429992) - c.129C>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1483776589 | 43 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.89852256G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852256G>A Locations: - p.Cys43Tyr (Ensembl:ENST00000429992) - c.128G>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1452581864 | 44 | R>K | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NC_000002.12:g.89852259G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852259G>A Locations: - p.Arg44Lys (Ensembl:ENST00000429992) - c.131G>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1292519785 | 44 | R>S | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852260G>C, NC_000002.12:g.89852260G>T Codon: AGG/AGC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852260G>C, NC_000002.12:g.89852260G>T Locations: - p.Arg44Ser (Ensembl:ENST00000429992) - c.132G>C (Ensembl:ENST00000429992) - c.132G>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1256401180 | 44 | R>W | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89852258A>T Codon: AGG/TGG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852258A>T Locations: - p.Arg44Trp (Ensembl:ENST00000429992) - c.130A>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674178095 | 45 | S>Y | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852262C>A Codon: TCT/TAT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852262C>A Locations: - p.Ser45Tyr (Ensembl:ENST00000429992) - c.134C>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674178140 | 46 | S>C | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89852264A>T Codon: AGT/TGT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852264A>T Locations: - p.Ser46Cys (Ensembl:ENST00000429992) - c.136A>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1485519521 | 46 | S>I | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852265G>T Codon: AGT/ATT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852265G>T Locations: - p.Ser46Ile (Ensembl:ENST00000429992) - c.137G>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1485519521 | 46 | S>N | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.89852265G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852265G>A Locations: - p.Ser46Asn (Ensembl:ENST00000429992) - c.137G>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674178253 | 46 | S>R | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852266T>G Codon: AGT/AGG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852266T>G Locations: - p.Ser46Arg (Ensembl:ENST00000429992) - c.138T>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1485519521 | 46 | S>T | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000002.12:g.89852265G>C Codon: AGT/ACT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852265G>C Locations: - p.Ser46Thr (Ensembl:ENST00000429992) - c.137G>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1182819149 | 47 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.89852267C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852267C>T Locations: - p.Gln47Ter (Ensembl:ENST00000429992) - c.139C>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674178340 | 47 | Q>L | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852268A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852268A>T Locations: - p.Gln47Leu (Ensembl:ENST00000429992) - c.140A>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674178340 | 47 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.89852268A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852268A>G Locations: - p.Gln47Arg (Ensembl:ENST00000429992) - c.140A>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1416505110 | 48 | S>N | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000002.12:g.89852271G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852271G>A Locations: - p.Ser48Asn (Ensembl:ENST00000429992) - c.143G>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs867287495 | 48 | S>R | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.89852272C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852272C>A Locations: - p.Ser48Arg (Ensembl:ENST00000429992) - c.144C>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1170429606 | 49 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.89852273C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852273C>T Locations: - p.Leu49Phe (Ensembl:ENST00000429992) - c.145C>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1170429606 | 49 | L>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.89852273C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852273C>A Locations: - p.Leu49Ile (Ensembl:ENST00000429992) - c.145C>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1390832940 | 50 | L>F | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.89852278G>C, NC_000002.12:g.89852278G>T Codon: TTG/TTC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852278G>C, NC_000002.12:g.89852278G>T Locations: - p.Leu50Phe (Ensembl:ENST00000429992) - c.150G>C (Ensembl:ENST00000429992) - c.150G>T (Ensembl:ENST00000429992) Source type: large scale study | |||||||
rs564470195 | 51 | D>A | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852280A>C Codon: GAT/GCT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852280A>C Locations: - p.Asp51Ala (Ensembl:ENST00000429992) - c.152A>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1431740495 | 51 | D>Y | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000002.12:g.89852279G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852279G>T Locations: - p.Asp51Tyr (Ensembl:ENST00000429992) - c.151G>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1375086143 | 52 | S>G | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89852282A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852282A>G Locations: - p.Ser52Gly (Ensembl:ENST00000429992) - c.154A>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674178803 | 52 | S>I | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852283G>T Codon: AGT/ATT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852283G>T Locations: - p.Ser52Ile (Ensembl:ENST00000429992) - c.155G>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674178803 | 52 | S>N | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89852283G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852283G>A Locations: - p.Ser52Asn (Ensembl:ENST00000429992) - c.155G>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1415103131 | 52 | S>R | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.89852284T>A Codon: AGT/AGA Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852284T>A Locations: - p.Ser52Arg (Ensembl:ENST00000429992) - c.156T>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674178803 | 52 | S>T | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000002.12:g.89852283G>C Codon: AGT/ACT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852283G>C Locations: - p.Ser52Thr (Ensembl:ENST00000429992) - c.155G>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1359679212 | 53 | D>A | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.89852286A>C Codon: GAT/GCT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852286A>C Locations: - p.Asp53Ala (Ensembl:ENST00000429992) - c.158A>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1304370419 | 53 | D>N | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000002.12:g.89852285G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852285G>A Locations: - p.Asp53Asn (Ensembl:ENST00000429992) - c.157G>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1304370419 | 53 | D>Y | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000002.12:g.89852285G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852285G>T Locations: - p.Asp53Tyr (Ensembl:ENST00000429992) - c.157G>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs2104287044 | 54 | D>H | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000002.12:g.89852288G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852288G>C Locations: - p.Asp54His (Ensembl:ENST00000429992) - c.160G>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1381561297 | 55 | G>R | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852291G>C Codon: GGA/CGA Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852291G>C Locations: - p.Gly55Arg (Ensembl:ENST00000429992) - c.163G>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1296253480 | 56 | N>D | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000002.12:g.89852294A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852294A>G Locations: - p.Asn56Asp (Ensembl:ENST00000429992) - c.166A>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1573300795 | 57 | T>P | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852297A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852297A>C Locations: - p.Thr57Pro (Ensembl:ENST00000429992) - c.169A>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674179522 | 58 | Y>F | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000002.12:g.89852301A>T Codon: TAT/TTT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852301A>T Locations: - p.Tyr58Phe (Ensembl:ENST00000429992) - c.173A>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674179461 | 58 | Y>N | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89852300T>A Codon: TAT/AAT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852300T>A Locations: - p.Tyr58Asn (Ensembl:ENST00000429992) - c.172T>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1279091891 | 59 | L>S | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852304T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852304T>C Locations: - p.Leu59Ser (Ensembl:ENST00000429992) - c.176T>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs531524852 | 60 | D>E | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000002.12:g.89852308C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852308C>G Locations: - p.Asp60Glu (Ensembl:ENST00000429992) - c.180C>G (Ensembl:ENST00000429992) Source type: large scale study | |||||||
rs1211883797 | 60 | D>H | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.73) Somatic: No Accession: NC_000002.12:g.89852306G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852306G>C Locations: - p.Asp60His (Ensembl:ENST00000429992) - c.178G>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs549744098 | 61 | W>C | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89852311G>T Codon: TGG/TGT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852311G>T Locations: - p.Trp61Cys (Ensembl:ENST00000429992) - c.183G>T (Ensembl:ENST00000429992) Source type: large scale study | |||||||
rs1485121167 | 61 | W>G | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852309T>G Codon: TGG/GGG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852309T>G Locations: - p.Trp61Gly (Ensembl:ENST00000429992) - c.181T>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1171401385 | 61 | W>L | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.89852310G>T Codon: TGG/TTG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852310G>T Locations: - p.Trp61Leu (Ensembl:ENST00000429992) - c.182G>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1485121167 | 61 | W>R | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852309T>C, NC_000002.12:g.89852309T>A Codon: TGG/CGG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852309T>C, NC_000002.12:g.89852309T>A Locations: - p.Trp61Arg (Ensembl:ENST00000429992) - c.181T>C (Ensembl:ENST00000429992) - c.181T>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1249215816 | 62 | Y>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.89852314C>A Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852314C>A Locations: - p.Tyr62Ter (Ensembl:ENST00000429992) - c.186C>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1573300827 | 62 | Y>S | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89852313A>C Codon: TAC/TCC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852313A>C Locations: - p.Tyr62Ser (Ensembl:ENST00000429992) - c.185A>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1451348169 | 63 | L>V | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000002.12:g.89852315C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852315C>G Locations: - p.Leu63Val (Ensembl:ENST00000429992) - c.187C>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674180615 | 64 | Q>E | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852318C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852318C>G Locations: - p.Gln64Glu (Ensembl:ENST00000429992) - c.190C>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1172476107 | 64 | Q>P | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852319A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852319A>C Locations: - p.Gln64Pro (Ensembl:ENST00000429992) - c.191A>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1248808221 | 66 | P>L | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89852325C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852325C>T Locations: - p.Pro66Leu (Ensembl:ENST00000429992) - c.197C>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674180762 | 66 | P>T | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852324C>A Codon: CCA/ACA Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852324C>A Locations: - p.Pro66Thr (Ensembl:ENST00000429992) - c.196C>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1171856958 | 67 | G>E | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852328G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852328G>A Locations: - p.Gly67Glu (Ensembl:ENST00000429992) - c.200G>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1573300846 | 71 | Q>E | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852339C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852339C>G Locations: - p.Gln71Glu (Ensembl:ENST00000429992) - c.211C>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674181030 | 71 | Q>H | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.89852341G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852341G>C Locations: - p.Gln71His (Ensembl:ENST00000429992) - c.213G>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674181088 | 72 | L>V | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.89852342C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852342C>G Locations: - p.Leu72Val (Ensembl:ENST00000429992) - c.214C>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674181129 | 73 | L>V | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89852345C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852345C>G Locations: - p.Leu73Val (Ensembl:ENST00000429992) - c.217C>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674181353 | 75 | Y>C | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89852352A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852352A>G Locations: - p.Tyr75Cys (Ensembl:ENST00000429992) - c.224A>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1343180765 | 76 | T>A | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.69) Somatic: No Accession: NC_000002.12:g.89852354A>G Codon: ACG/GCG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852354A>G Locations: - p.Thr76Ala (Ensembl:ENST00000429992) - c.226A>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1429803019 | 76 | T>M | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.27) Somatic: No Accession: NC_000002.12:g.89852355C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852355C>T Locations: - p.Thr76Met (Ensembl:ENST00000429992) - c.227C>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1429803019 | 76 | T>R | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.5) Somatic: No Accession: NC_000002.12:g.89852355C>G Codon: ACG/AGG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852355C>G Locations: - p.Thr76Arg (Ensembl:ENST00000429992) - c.227C>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1309899912 | 77 | L>F | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89852357C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852357C>T Locations: - p.Leu77Phe (Ensembl:ENST00000429992) - c.229C>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1219724669 | 77 | L>P | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89852358T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852358T>C Locations: - p.Leu77Pro (Ensembl:ENST00000429992) - c.230T>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1309899912 | 77 | L>V | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000002.12:g.89852357C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852357C>G Locations: - p.Leu77Val (Ensembl:ENST00000429992) - c.229C>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1367279433 | 78 | S>F | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.89852361C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852361C>T Locations: - p.Ser78Phe (Ensembl:ENST00000429992) - c.233C>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674181799 | 78 | S>P | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.89852360T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852360T>C Locations: - p.Ser78Pro (Ensembl:ENST00000429992) - c.232T>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs990121772 | 79 | Y>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.89852365T>G, NC_000002.12:g.89852365T>A Codon: TAT/TAG Consequence type: stop gained Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852365T>G, NC_000002.12:g.89852365T>A Locations: - p.Tyr79Ter (Ensembl:ENST00000429992) - c.237T>G (Ensembl:ENST00000429992) - c.237T>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674181949 | 79 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852364A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852364A>G Locations: - p.Tyr79Cys (Ensembl:ENST00000429992) - c.236A>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674181949 | 79 | Y>S | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000002.12:g.89852364A>C Codon: TAT/TCT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852364A>C Locations: - p.Tyr79Ser (Ensembl:ENST00000429992) - c.236A>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1220573890 | 80 | R>Q | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000002.12:g.89852367G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852367G>A Locations: - p.Arg80Gln (Ensembl:ENST00000429992) - c.239G>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1371167591 | 80 | R>W | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.89852366C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852366C>T Locations: - p.Arg80Trp (Ensembl:ENST00000429992) - c.238C>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1315454316 | 82 | S>F | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89852373C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852373C>T Locations: - p.Ser82Phe (Ensembl:ENST00000429992) - c.245C>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1215538924 | 83 | G>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.89852375G>T Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852375G>T Locations: - p.Gly83Ter (Ensembl:ENST00000429992) - c.247G>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs2104287230 | 85 | P>Q | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852382C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852382C>A Locations: - p.Pro85Gln (Ensembl:ENST00000429992) - c.254C>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1466637062 | 85 | P>S | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000002.12:g.89852381C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852381C>T Locations: - p.Pro85Ser (Ensembl:ENST00000429992) - c.253C>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1573300884 | 86 | D>G | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89852385A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852385A>G Locations: - p.Asp86Gly (Ensembl:ENST00000429992) - c.257A>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1252432699 | 87 | R>K | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000002.12:g.89852388G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852388G>A Locations: - p.Arg87Lys (Ensembl:ENST00000429992) - c.260G>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1252432699 | 87 | R>T | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852388G>C Codon: AGG/ACG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852388G>C Locations: - p.Arg87Thr (Ensembl:ENST00000429992) - c.260G>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1193091753 | 89 | S>C | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852393A>T Codon: AGT/TGT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852393A>T Locations: - p.Ser89Cys (Ensembl:ENST00000429992) - c.265A>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1193091753 | 89 | S>G | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89852393A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852393A>G Locations: - p.Ser89Gly (Ensembl:ENST00000429992) - c.265A>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1406085694 | 89 | S>N | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89852394G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852394G>A Locations: - p.Ser89Asn (Ensembl:ENST00000429992) - c.266G>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1193091753 | 89 | S>R | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89852393A>C Codon: AGT/CGT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852393A>C Locations: - p.Ser89Arg (Ensembl:ENST00000429992) - c.265A>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs763095059 | 90 | G>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852397G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852397G>A Locations: - p.Gly90Asp (Ensembl:ENST00000429992) - c.269G>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674183127 | 91 | S>N | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89852400G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852400G>A Locations: - p.Ser91Asn (Ensembl:ENST00000429992) - c.272G>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1159632531 | 91 | S>R | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.89852399A>C Codon: AGT/CGT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852399A>C Locations: - p.Ser91Arg (Ensembl:ENST00000429992) - c.271A>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674183202 | 92 | G>R | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.89852402G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852402G>A Locations: - p.Gly92Arg (Ensembl:ENST00000429992) - c.274G>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1381358057 | 94 | G>S | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89852408G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852408G>A Locations: - p.Gly94Ser (Ensembl:ENST00000429992) - c.280G>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1459796792 | 94 | G>V | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.89852409G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852409G>T Locations: - p.Gly94Val (Ensembl:ENST00000429992) - c.281G>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674183756 | 102 | S>N | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.89852433G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852433G>A Locations: - p.Ser102Asn (Ensembl:ENST00000429992) - c.305G>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1236377102 | 103 | R>K | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000002.12:g.89852436G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852436G>A Locations: - p.Arg103Lys (Ensembl:ENST00000429992) - c.308G>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1573300924 | 104 | V>G | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852439T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852439T>G Locations: - p.Val104Gly (Ensembl:ENST00000429992) - c.311T>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1325195933 | 104 | V>L | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.89852438G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852438G>T Locations: - p.Val104Leu (Ensembl:ENST00000429992) - c.310G>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1325195933 | 104 | V>M | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89852438G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852438G>A Locations: - p.Val104Met (Ensembl:ENST00000429992) - c.310G>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1349915803 | 105 | E>K | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.89852441G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852441G>A Locations: - p.Glu105Lys (Ensembl:ENST00000429992) - c.313G>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1277351649 | 109 | V>A | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: NC_000002.12:g.89852454T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852454T>C Locations: - p.Val109Ala (Ensembl:ENST00000429992) - c.326T>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1438016389 | 109 | V>F | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000002.12:g.89852453G>T Codon: GTT/TTT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852453G>T Locations: - p.Val109Phe (Ensembl:ENST00000429992) - c.325G>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1438016389 | 109 | V>L | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000002.12:g.89852453G>C Codon: GTT/CTT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852453G>C Locations: - p.Val109Leu (Ensembl:ENST00000429992) - c.325G>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674184386 | 110 | G>E | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89852457G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852457G>A Locations: - p.Gly110Glu (Ensembl:ENST00000429992) - c.329G>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1573300938 | 111 | V>G | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852460T>G Codon: GTT/GGT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852460T>G Locations: - p.Val111Gly (Ensembl:ENST00000429992) - c.332T>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674184596 | 112 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852463A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852463A>G Locations: - p.Tyr112Cys (Ensembl:ENST00000429992) - c.335A>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674184775 | 114 | C>F | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852469G>T Codon: TGC/TTC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852469G>T Locations: - p.Cys114Phe (Ensembl:ENST00000429992) - c.341G>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674184717 | 114 | C>R | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89852468T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852468T>C Locations: - p.Cys114Arg (Ensembl:ENST00000429992) - c.340T>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674184861 | 115 | M>L | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000002.12:g.89852471A>C Codon: ATG/CTG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852471A>C Locations: - p.Met115Leu (Ensembl:ENST00000429992) - c.343A>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1289363961 | 117 | R>C | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000002.12:g.89852477C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852477C>T Locations: - p.Arg117Cys (Ensembl:ENST00000429992) - c.349C>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1331725858 | 117 | R>H | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.22) Somatic: No Accession: NC_000002.12:g.89852478G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852478G>A Locations: - p.Arg117His (Ensembl:ENST00000429992) - c.350G>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1331725858 | 117 | R>L | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.24) Somatic: No Accession: NC_000002.12:g.89852478G>T Codon: CGT/CTT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852478G>T Locations: - p.Arg117Leu (Ensembl:ENST00000429992) - c.350G>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1289363961 | 117 | R>S | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.67) Somatic: No Accession: NC_000002.12:g.89852477C>A Codon: CGT/AGT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852477C>A Locations: - p.Arg117Ser (Ensembl:ENST00000429992) - c.349C>A (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1448871812 | 118 | I>T | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.97) Somatic: No Accession: NC_000002.12:g.89852481T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852481T>C Locations: - p.Ile118Thr (Ensembl:ENST00000429992) - c.353T>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674185169 | 118 | I>V | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000002.12:g.89852480A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852480A>G Locations: - p.Ile118Val (Ensembl:ENST00000429992) - c.352A>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674185474 | 119 | E>D | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.89852485G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852485G>T Locations: - p.Glu119Asp (Ensembl:ENST00000429992) - c.357G>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1212335776 | 119 | E>G | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89852484A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852484A>G Locations: - p.Glu119Gly (Ensembl:ENST00000429992) - c.356A>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs2104287371 | 119 | E>Q | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000002.12:g.89852483G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852483G>C Locations: - p.Glu119Gln (Ensembl:ENST00000429992) - c.355G>C (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1212335776 | 119 | E>V | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000002.12:g.89852484A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852484A>T Locations: - p.Glu119Val (Ensembl:ENST00000429992) - c.356A>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674185553 | 120 | F>V | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.5) Somatic: No Accession: NC_000002.12:g.89852486T>G Codon: TTT/GTT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852486T>G Locations: - p.Phe120Val (Ensembl:ENST00000429992) - c.358T>G (Ensembl:ENST00000429992) Source type: large scale study Cross-references: | |||||||
rs1674185695 | 121 | P>S | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.89852489C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 2p11.2 Genomic location: NC_000002.12:g.89852489C>T Locations: - p.Pro121Ser (Ensembl:ENST00000429992) - c.361C>T (Ensembl:ENST00000429992) Source type: large scale study Cross-references: |