A0A087WTZ7 · A0A087WTZ7_HUMAN
- ProteinPleckstrin homology like domain family B member 1
- GenePHLDB1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids209 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs201929347 | 2 | D>E | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.077) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118613842C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118613842C>A Locations: - p.Asp2Glu (Ensembl:ENST00000532639) - c.6C>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs782807323 | 3 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000011.10:g.118613843G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118613843G>T Locations: - p.Ala3Ser (Ensembl:ENST00000532639) - c.7G>T (Ensembl:ENST00000532639) Source type: large scale study | |||||||
COSV104420751 rs782807323 | 3 | A>T | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: Yes Accession: NC_000011.10:g.118613843G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118613843G>A Locations: - p.Ala3Thr (Ensembl:ENST00000532639) - c.7G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1941015393 | 5 | N>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.922) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118613849A>C Codon: AAT/CAT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118613849A>C Locations: - p.Asn5His (Ensembl:ENST00000532639) - c.13A>C (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs368622520 | 5 | N>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.69) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118613850A>T Codon: AAT/ATT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118613850A>T Locations: - p.Asn5Ile (Ensembl:ENST00000532639) - c.14A>T (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs782744576 | 6 | R>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.896) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118613852A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118613852A>G Locations: - p.Arg6Gly (Ensembl:ENST00000532639) - c.16A>G (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1555086147 | 6 | R>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.269) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000011.10:g.118613853G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118613853G>A Locations: - p.Arg6Lys (Ensembl:ENST00000532639) - c.17G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1941019015 | 9 | I>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000011.10:g.118613862T>G Codon: ATA/AGA Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118613862T>G Locations: - p.Ile9Arg (Ensembl:ENST00000532639) - c.26T>G (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1360874440 | 10 | G>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118613865G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118613865G>A Locations: - p.Gly10Asp (Ensembl:ENST00000532639) - c.29G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1565390207 | 13 | C>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118613874G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118613874G>A Locations: - p.Cys13Tyr (Ensembl:ENST00000532639) - c.38G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs2135735272 | 14 | Q>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000011.10:g.118613876C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118613876C>A Locations: - p.Gln14Lys (Ensembl:ENST00000532639) - c.40C>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1555086208 | 15 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118613880C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118613880C>T Locations: - p.Thr15Ile (Ensembl:ENST00000532639) - c.44C>T (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs781909582 | 16 | Q>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118613882C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118613882C>A Locations: - p.Gln16Lys (Ensembl:ENST00000532639) - c.46C>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1565390329 | 17 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118613885A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118613885A>C Locations: - p.Thr17Pro (Ensembl:ENST00000532639) - c.49A>C (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs781810809 | 17 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118613886C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118613886C>G Locations: - p.Thr17Ser (Ensembl:ENST00000532639) - c.50C>G (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1375582448 | 19 | V>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118613892T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118613892T>C Locations: - p.Val19Ala (Ensembl:ENST00000532639) - c.56T>C (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1941026840 | 20 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.721) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118613896G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118613896G>T Locations: - p.Gln20His (Ensembl:ENST00000532639) - c.60G>T (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1941026304 | 20 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.101) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118613895A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118613895A>G Locations: - p.Gln20Arg (Ensembl:ENST00000532639) - c.59A>G (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1555086991 | 22 | G>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118614563G>C Codon: GGA/GCA Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614563G>C Locations: - p.Gly22Ala (Ensembl:ENST00000532639) - c.65G>C (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1555086978 | 22 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118614562G>C Codon: GGA/CGA Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614562G>C Locations: - p.Gly22Arg (Ensembl:ENST00000532639) - c.64G>C (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1591454632 | 23 | P>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.919) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118614566C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614566C>A Locations: - p.Pro23His (Ensembl:ENST00000532639) - c.68C>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1941203624 | 23 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118614565C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614565C>T Locations: - p.Pro23Ser (Ensembl:ENST00000532639) - c.67C>T (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1941204481 | 24 | L>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.895) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118614568T>A Codon: TTG/ATG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614568T>A Locations: - p.Leu24Met (Ensembl:ENST00000532639) - c.70T>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs782471442 | 25 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.949) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118614571G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614571G>A Locations: - p.Asp25Asn (Ensembl:ENST00000532639) - c.73G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1251745156 | 25 | D>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.926) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118614572A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614572A>T Locations: - p.Asp25Val (Ensembl:ENST00000532639) - c.74A>T (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs149729749 | 26 | L>P | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118614575T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614575T>C Locations: - p.Leu26Pro (Ensembl:ENST00000532639) - c.77T>C (Ensembl:ENST00000532639) Source type: large scale study | |||||||
rs374436173 | 27 | I>F | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.787) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118614577A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614577A>T Locations: - p.Ile27Phe (Ensembl:ENST00000532639) - c.79A>T (Ensembl:ENST00000532639) Source type: large scale study | |||||||
rs1555087047 | 28 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.118614582G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614582G>C Locations: - p.Glu28Asp (Ensembl:ENST00000532639) - c.84G>C (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
COSV107416084 rs376321013 | 28 | E>K | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000011.10:g.118614580G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614580G>A Locations: - p.Glu28Lys (Ensembl:ENST00000532639) - c.82G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs376321013 | 28 | E>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118614580G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614580G>C Locations: - p.Glu28Gln (Ensembl:ENST00000532639) - c.82G>C (Ensembl:ENST00000532639) Source type: large scale study | |||||||
rs782645297 | 29 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.622) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118614584C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614584C>T Locations: - p.Thr29Ile (Ensembl:ENST00000532639) - c.86C>T (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1555087068 | 30 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.919) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118614587G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614587G>A Locations: - p.Gly30Asp (Ensembl:ENST00000532639) - c.89G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1233991671 | 32 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118614593G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614593G>A Locations: - p.Gly32Glu (Ensembl:ENST00000532639) - c.95G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1334333311 | 34 | K>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.678) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118614598A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614598A>G Locations: - p.Lys34Glu (Ensembl:ENST00000532639) - c.100A>G (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1941210759 | 35 | V>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118614601G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614601G>C Locations: - p.Val35Leu (Ensembl:ENST00000532639) - c.103G>C (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
COSV104420750 rs200067658 | 37 | T>M | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.919) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000011.10:g.118614608C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614608C>T Locations: - p.Thr37Met (Ensembl:ENST00000532639) - c.110C>T (Ensembl:ENST00000532639) Source type: large scale study | |||||||
rs782188971 | 38 | D>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.118614612C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614612C>G Locations: - p.Asp38Glu (Ensembl:ENST00000532639) - c.114C>G (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1591455144 | 39 | K>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118614615A>C Codon: AAA/AAC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614615A>C Locations: - p.Lys39Asn (Ensembl:ENST00000532639) - c.117A>C (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs782413667 | 39 | K>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118614614A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614614A>G Locations: - p.Lys39Arg (Ensembl:ENST00000532639) - c.116A>G (Ensembl:ENST00000532639) Source type: large scale study | |||||||
rs1555087155 | 41 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118614619C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614619C>T Locations: - p.His41Tyr (Ensembl:ENST00000532639) - c.121C>T (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
COSV61876529 rs782131435 | 44 | S>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.402) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000003982 (gnomAD) Accession: NC_000011.10:g.118614629G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614629G>A Locations: - p.S44N (NCI-TCGA:ENST00000532639) - p.Ser44Asn (Ensembl:ENST00000532639) - c.131G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1941216876 | 47 | S>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.824) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118614638G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614638G>A Locations: - p.Ser47Asn (Ensembl:ENST00000532639) - c.140G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs781973478 | 48 | G>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118614640G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614640G>A Locations: - p.Gly48Arg (Ensembl:ENST00000532639) - c.142G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
COSV61881421 rs1327961699 | 49 | R>* | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.118614643C>T Codon: CGA/TGA Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614643C>T Locations: - p.Arg49Ter (Ensembl:ENST00000532639) - c.145C>T (Ensembl:ENST00000532639) Source type: large scale study | |||||||
rs782059862 | 49 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.602) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118614644G>T Codon: CGA/CTA Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614644G>T Locations: - p.Arg49Leu (Ensembl:ENST00000532639) - c.146G>T (Ensembl:ENST00000532639) Source type: large scale study | |||||||
rs782059862 | 49 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118614644G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614644G>A Locations: - p.Arg49Gln (Ensembl:ENST00000532639) - c.146G>A (Ensembl:ENST00000532639) Source type: large scale study | |||||||
rs1396227859 | 53 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.876) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118614655G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614655G>A Locations: - p.Ala53Thr (Ensembl:ENST00000532639) - c.157G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1941219737 | 54 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000011.10:g.118614658A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614658A>G Locations: - p.Ile54Val (Ensembl:ENST00000532639) - c.160A>G (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
COSV105257920 rs1555087244 | 55 | T>I | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.907) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000011.10:g.118614662C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614662C>T Locations: - p.Thr55Ile (Ensembl:ENST00000532639) - c.164C>T (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs781893353 | 55 | T>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118614661A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614661A>C Locations: - p.Thr55Pro (Ensembl:ENST00000532639) - c.163A>C (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs941901313 | 56 | L>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.694) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118614664C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614664C>A Locations: - p.Leu56Ile (Ensembl:ENST00000532639) - c.166C>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs782549852 | 56 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118614665T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614665T>C Locations: - p.Leu56Pro (Ensembl:ENST00000532639) - c.167T>C (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs941901313 | 56 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.414) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000011.10:g.118614664C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614664C>G Locations: - p.Leu56Val (Ensembl:ENST00000532639) - c.166C>G (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs782773220 | 58 | P>L | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.542) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118614671C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614671C>T Locations: - p.Pro58Leu (Ensembl:ENST00000532639) - c.173C>T (Ensembl:ENST00000532639) Source type: large scale study | |||||||
rs1555087314 | 61 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.92) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118614681A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614681A>C Locations: - p.Glu61Asp (Ensembl:ENST00000532639) - c.183A>C (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1941573683 | 62 | G>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616041G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616041G>A Locations: - p.Gly62Glu (Ensembl:ENST00000532639) - c.185G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1555087324 | 62 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118614682G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118614682G>A Locations: - p.Gly62Arg (Ensembl:ENST00000532639) - c.184G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1555088920 | 63 | R>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000011.10:g.118616044G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616044G>A Locations: - p.Arg63Lys (Ensembl:ENST00000532639) - c.188G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs782715028 | 64 | T>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616047C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616047C>T Locations: - p.Thr64Met (Ensembl:ENST00000532639) - c.191C>T (Ensembl:ENST00000532639) Source type: large scale study | |||||||
rs1333672917 | 66 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616053T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616053T>C Locations: - p.Ile66Thr (Ensembl:ENST00000532639) - c.197T>C (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1555088970 | 67 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616055G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616055G>A Locations: - p.Gly67Ser (Ensembl:ENST00000532639) - c.199G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs781831843 | 68 | S>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616059C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616059C>T Locations: - p.Ser68Phe (Ensembl:ENST00000532639) - c.203C>T (Ensembl:ENST00000532639) Source type: large scale study | |||||||
rs367933668 | 70 | A>P | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616064G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616064G>C Locations: - p.Ala70Pro (Ensembl:ENST00000532639) - c.208G>C (Ensembl:ENST00000532639) Source type: large scale study | |||||||
rs782714212 | 71 | R>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616067A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616067A>G Locations: - p.Arg71Gly (Ensembl:ENST00000532639) - c.211A>G (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1168425142 | 71 | R>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000011.10:g.118616068G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616068G>A Locations: - p.Arg71Lys (Ensembl:ENST00000532639) - c.212G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1555089008 | 72 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616071A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616071A>G Locations: - p.Asp72Gly (Ensembl:ENST00000532639) - c.215A>G (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1555089027 | 74 | S>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.118616077C>A Codon: TCA/TAA Consequence type: stop gained Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616077C>A Locations: - p.Ser74Ter (Ensembl:ENST00000532639) - c.221C>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs782549042 | 74 | S>P | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616076T>C Codon: TCA/CCA Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616076T>C Locations: - p.Ser74Pro (Ensembl:ENST00000532639) - c.220T>C (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs782211813 | 75 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616080T>C Codon: CTA/CCA Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616080T>C Locations: - p.Leu75Pro (Ensembl:ENST00000532639) - c.224T>C (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs782497010 | 78 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.413) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616088C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616088C>T Locations: - p.Pro78Ser (Ensembl:ENST00000532639) - c.232C>T (Ensembl:ENST00000532639) Source type: large scale study | |||||||
COSV61882048 rs782206998 | 79 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.796) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001194 (gnomAD) Accession: NC_000011.10:g.118616092G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616092G>A Locations: - p.G79D (NCI-TCGA:ENST00000532639) - p.Gly79Asp (Ensembl:ENST00000532639) - c.236G>A (Ensembl:ENST00000532639) Source type: large scale study | |||||||
rs782561836 | 79 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.915) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616091G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616091G>A Locations: - p.Gly79Ser (Ensembl:ENST00000532639) - c.235G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1471717772 | 81 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.728) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616098C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616098C>T Locations: - p.Ala81Val (Ensembl:ENST00000532639) - c.242C>T (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1941584580 | 82 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.667) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616101C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616101C>T Locations: - p.Pro82Leu (Ensembl:ENST00000532639) - c.245C>T (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1941584992 | 84 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616107A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616107A>G Locations: - p.His84Arg (Ensembl:ENST00000532639) - c.251A>G (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs782414287 | 86 | Y>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.399) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616112T>A Codon: TAC/AAC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616112T>A Locations: - p.Tyr86Asn (Ensembl:ENST00000532639) - c.256T>A (Ensembl:ENST00000532639) Source type: large scale study | |||||||
rs781864737 | 87 | I>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616117C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616117C>G Locations: - p.Ile87Met (Ensembl:ENST00000532639) - c.261C>G (Ensembl:ENST00000532639) Source type: large scale study | |||||||
rs201811328 | 88 | E>K | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.726) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616118G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616118G>A Locations: - p.Glu88Lys (Ensembl:ENST00000532639) - c.262G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1941586491 | 89 | N>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.968) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616123C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616123C>A Locations: - p.Asn89Lys (Ensembl:ENST00000532639) - c.267C>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs782379331 | 90 | L>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.303) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616124C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616124C>A Locations: - p.Leu90Met (Ensembl:ENST00000532639) - c.268C>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs781950950 | 91 | R>G | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616127C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616127C>G Locations: - p.Arg91Gly (Ensembl:ENST00000532639) - c.271C>G (Ensembl:ENST00000532639) Source type: large scale study | |||||||
rs150629027 | 91 | R>Q | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000011.10:g.118616128G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616128G>A Locations: - p.Arg91Gln (Ensembl:ENST00000532639) - c.272G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs781950950 | 91 | R>W | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.864) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616127C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616127C>T Locations: - p.Arg91Trp (Ensembl:ENST00000532639) - c.271C>T (Ensembl:ENST00000532639) Source type: large scale study | |||||||
rs782456833 | 92 | G>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.844) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616131G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616131G>A Locations: - p.Gly92Asp (Ensembl:ENST00000532639) - c.275G>A (Ensembl:ENST00000532639) Source type: large scale study | |||||||
rs1941588591 | 92 | G>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.944) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616130G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616130G>A Locations: - p.Gly92Ser (Ensembl:ENST00000532639) - c.274G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1555089168 | 93 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.124) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.118616133A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616133A>G Locations: - p.Thr93Ala (Ensembl:ENST00000532639) - c.277A>G (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1555089176 | 93 | T>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616134C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616134C>A Locations: - p.Thr93Asn (Ensembl:ENST00000532639) - c.278C>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1555089168 | 93 | T>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.89) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616133A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616133A>C Locations: - p.Thr93Pro (Ensembl:ENST00000532639) - c.277A>C (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1324060807 | 98 | P>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616148C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616148C>G Locations: - p.Pro98Ala (Ensembl:ENST00000532639) - c.292C>G (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1591469962 | 99 | C>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.135) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616151T>G Codon: TGT/GGT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616151T>G Locations: - p.Cys99Gly (Ensembl:ENST00000532639) - c.295T>G (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs781933496 | 99 | C>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.209) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616152G>C Codon: TGT/TCT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616152G>C Locations: - p.Cys99Ser (Ensembl:ENST00000532639) - c.296G>C (Ensembl:ENST00000532639) Source type: large scale study | |||||||
rs781933496 | 99 | C>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.52) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616152G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616152G>A Locations: - p.Cys99Tyr (Ensembl:ENST00000532639) - c.296G>A (Ensembl:ENST00000532639) Source type: large scale study | |||||||
rs782150012 | 100 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.413) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616154G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616154G>A Locations: - p.Gly100Ser (Ensembl:ENST00000532639) - c.298G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1555089241 | 101 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.418) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616158A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616158A>G Locations: - p.Asn101Ser (Ensembl:ENST00000532639) - c.302A>G (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1941593803 | 102 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.118616160G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616160G>A Locations: - p.Ala102Thr (Ensembl:ENST00000532639) - c.304G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1941594650 | 104 | T>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.255) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616167C>A Codon: ACT/AAT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616167C>A Locations: - p.Thr104Asn (Ensembl:ENST00000532639) - c.311C>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1555089284 | 105 | I>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.726) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616171T>G Codon: ATT/ATG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616171T>G Locations: - p.Ile105Met (Ensembl:ENST00000532639) - c.315T>G (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs782087847 | 108 | L>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.399) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616179T>A Codon: CTC/CAC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616179T>A Locations: - p.Leu108His (Ensembl:ENST00000532639) - c.323T>A (Ensembl:ENST00000532639) Source type: large scale study | |||||||
rs1941597012 | 109 | P>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616182C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616182C>G Locations: - p.Pro109Arg (Ensembl:ENST00000532639) - c.326C>G (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs148436342 | 110 | V>I | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.136) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000011.10:g.118616184G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616184G>A Locations: - p.Val110Ile (Ensembl:ENST00000532639) - c.328G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs148436342 | 110 | V>L | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.21) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616184G>C Codon: GTC/CTC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616184G>C Locations: - p.Val110Leu (Ensembl:ENST00000532639) - c.328G>C (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs924612982 | 111 | R>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616188G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616188G>C Locations: - p.Arg111Pro (Ensembl:ENST00000532639) - c.332G>C (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs924612982 | 111 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000011.10:g.118616188G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616188G>A Locations: - p.Arg111Gln (Ensembl:ENST00000532639) - c.332G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
COSV61876405 COSV61882268 rs782448370 | 111 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.315) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00002393 (gnomAD) Accession: NC_000011.10:g.118616187C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616187C>T Locations: - p.R111W (NCI-TCGA:ENST00000532639) - p.Arg111Trp (Ensembl:ENST00000532639) - c.331C>T (Ensembl:ENST00000532639) Source type: large scale study | |||||||
rs782680892 | 113 | P>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.923) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616194C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616194C>G Locations: - p.Pro113Arg (Ensembl:ENST00000532639) - c.338C>G (Ensembl:ENST00000532639) Source type: large scale study | |||||||
rs781911394 | 114 | T>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616196A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616196A>C Locations: - p.Thr114Pro (Ensembl:ENST00000532639) - c.340A>C (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
COSV61881687 rs782655710 | 115 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.299) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000008004 (gnomAD) Accession: NC_000011.10:g.118616200G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616200G>A Locations: - p.R115Q (NCI-TCGA:ENST00000532639) - p.Arg115Gln (Ensembl:ENST00000532639) - c.344G>A (Ensembl:ENST00000532639) Source type: large scale study | |||||||
rs782508862 | 115 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616199C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616199C>T Locations: - p.Arg115Trp (Ensembl:ENST00000532639) - c.343C>T (Ensembl:ENST00000532639) Source type: large scale study | |||||||
COSV61881289 rs782211405 | 116 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000008002 (gnomAD) Accession: NC_000011.10:g.118616202C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616202C>A Locations: - p.L116I (NCI-TCGA:ENST00000532639) - p.Leu116Ile (Ensembl:ENST00000532639) - c.346C>A (Ensembl:ENST00000532639) Source type: large scale study | |||||||
rs782350650 | 117 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.943) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616206C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616206C>T Locations: - p.Thr117Ile (Ensembl:ENST00000532639) - c.350C>T (Ensembl:ENST00000532639) Source type: large scale study | |||||||
rs782554239 | 118 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118616209A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616209A>G Locations: - p.Gln118Arg (Ensembl:ENST00000532639) - c.353A>G (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs542460647 | 119 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) Somatic: No Accession: NC_000011.10:g.118616211G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118616211G>A Locations: - p.Val119Ile (Ensembl:ENST00000532639) - c.355G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs761203746 | 121 | T>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) Somatic: No Accession: NC_000011.10:g.118624798C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624798C>T Locations: - p.Thr121Met (Ensembl:ENST00000532639) - c.362C>T (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1478954093 | 123 | L>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) Somatic: No Accession: NC_000011.10:g.118624803C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624803C>T Locations: - p.Leu123Phe (Ensembl:ENST00000532639) - c.367C>T (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1478954093 | 123 | L>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) Somatic: No Accession: NC_000011.10:g.118624803C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624803C>G Locations: - p.Leu123Val (Ensembl:ENST00000532639) - c.367C>G (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs554632842 | 124 | H>D | 1000Genomes TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) Somatic: No Accession: NC_000011.10:g.118624806C>G Codon: CAC/GAC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624806C>G Locations: - p.His124Asp (Ensembl:ENST00000532639) - c.370C>G (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs554632842 | 124 | H>N | 1000Genomes TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) Somatic: No Accession: NC_000011.10:g.118624806C>A Codon: CAC/AAC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624806C>A Locations: - p.His124Asn (Ensembl:ENST00000532639) - c.370C>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs554632842 | 124 | H>Y | 1000Genomes TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) Somatic: No Accession: NC_000011.10:g.118624806C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624806C>T Locations: - p.His124Tyr (Ensembl:ENST00000532639) - c.370C>T (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1555099230 | 126 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) Somatic: No Accession: NC_000011.10:g.118624813T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624813T>C Locations: - p.Ile126Thr (Ensembl:ENST00000532639) - c.377T>C (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs573285812 | 126 | I>V | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) Somatic: No Accession: NC_000011.10:g.118624812A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624812A>G Locations: - p.Ile126Val (Ensembl:ENST00000532639) - c.376A>G (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1943564213 | 127 | G>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) Somatic: No Accession: NC_000011.10:g.118624816G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624816G>A Locations: - p.Gly127Asp (Ensembl:ENST00000532639) - c.380G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1258197205 | 127 | G>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) Somatic: No Accession: NC_000011.10:g.118624815G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624815G>A Locations: - p.Gly127Ser (Ensembl:ENST00000532639) - c.379G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1943565381 | 129 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) Somatic: No Accession: NC_000011.10:g.118624821G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624821G>C Locations: - p.Ala129Pro (Ensembl:ENST00000532639) - c.385G>C (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1040548913 | 129 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) Somatic: No Accession: NC_000011.10:g.118624822C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624822C>T Locations: - p.Ala129Val (Ensembl:ENST00000532639) - c.386C>T (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1261064996 | 134 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) Somatic: No Accession: NC_000011.10:g.118624837C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624837C>T Locations: - p.Pro134Leu (Ensembl:ENST00000532639) - c.401C>T (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1943569444 | 135 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118624840C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624840C>T Locations: - p.Thr135Ile (Ensembl:ENST00000532639) - c.404C>T (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1943570003 | 136 | S>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.118624843C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624843C>T Locations: - p.Ser136Leu (Ensembl:ENST00000532639) - c.407C>T (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs550661788 | 137 | G>C | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118624845G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624845G>T Locations: - p.Gly137Cys (Ensembl:ENST00000532639) - c.409G>T (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs782313672 | 140 | L>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.922) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118624943T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624943T>C Locations: - p.Leu140Ser (Ensembl:ENST00000532639) - c.419T>C (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs781935608 | 141 | C>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.861) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118624946G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624946G>A Locations: - p.Cys141Tyr (Ensembl:ENST00000532639) - c.422G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs782422837 | 143 | G>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118624952G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624952G>A Locations: - p.Gly143Asp (Ensembl:ENST00000532639) - c.428G>A (Ensembl:ENST00000532639) Source type: large scale study | |||||||
rs782276038 | 143 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118624951G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624951G>A Locations: - p.Gly143Ser (Ensembl:ENST00000532639) - c.427G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1555099576 | 144 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.399) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118624956G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624956G>T Locations: - p.Gln144His (Ensembl:ENST00000532639) - c.432G>T (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs781994336 | 144 | Q>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.065) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118624955A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624955A>G Locations: - p.Gln144Arg (Ensembl:ENST00000532639) - c.431A>G (Ensembl:ENST00000532639) Source type: large scale study | |||||||
rs1943602352 | 147 | F>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.201) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118624963T>A Codon: TTC/ATC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624963T>A Locations: - p.Phe147Ile (Ensembl:ENST00000532639) - c.439T>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs782132059 | 148 | L>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118624966C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624966C>T Locations: - p.Leu148Phe (Ensembl:ENST00000532639) - c.442C>T (Ensembl:ENST00000532639) Source type: large scale study | |||||||
rs782132059 | 148 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.887) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118624966C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624966C>G Locations: - p.Leu148Val (Ensembl:ENST00000532639) - c.442C>G (Ensembl:ENST00000532639) Source type: large scale study | |||||||
COSV106507099 rs782735796 | 149 | R>C | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000011.10:g.118624969C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624969C>T Locations: - p.Arg149Cys (Ensembl:ENST00000532639) - c.445C>T (Ensembl:ENST00000532639) Source type: large scale study | |||||||
COSV61881441 rs781967928 | 149 | R>H | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000011.10:g.118624970G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624970G>A Locations: - p.Arg149His (Ensembl:ENST00000532639) - c.446G>A (Ensembl:ENST00000532639) Source type: large scale study | |||||||
rs781967928 | 149 | R>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118624970G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624970G>T Locations: - p.Arg149Leu (Ensembl:ENST00000532639) - c.446G>T (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1943604538 | 151 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118624976A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624976A>G Locations: - p.Asn151Ser (Ensembl:ENST00000532639) - c.452A>G (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1555099658 | 152 | H>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.791) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118624978C>A Codon: CAC/AAC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624978C>A Locations: - p.His152Asn (Ensembl:ENST00000532639) - c.454C>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs782709269 | 152 | H>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118624979A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624979A>C Locations: - p.His152Pro (Ensembl:ENST00000532639) - c.455A>C (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1555099687 | 152 | H>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118624980C>G Codon: CAC/CAG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624980C>G Locations: - p.His152Gln (Ensembl:ENST00000532639) - c.456C>G (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs530111509 | 153 | P>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118624982C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624982C>T Locations: - p.Pro153Leu (Ensembl:ENST00000532639) - c.458C>T (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1943606518 | 154 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.632) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118624985C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624985C>T Locations: - p.Ala154Val (Ensembl:ENST00000532639) - c.461C>T (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs375711165 | 157 | K>E | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.183) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118624993A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624993A>G Locations: - p.Lys157Glu (Ensembl:ENST00000532639) - c.469A>G (Ensembl:ENST00000532639) Source type: large scale study | |||||||
rs782482481 | 157 | K>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.183) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118624995G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624995G>T Locations: - p.Lys157Asn (Ensembl:ENST00000532639) - c.471G>T (Ensembl:ENST00000532639) Source type: large scale study | |||||||
rs782572817 | 159 | M>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.25) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118625000T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118625000T>C Locations: - p.Met159Thr (Ensembl:ENST00000532639) - c.476T>C (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1257061534 | 159 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118624999A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118624999A>G Locations: - p.Met159Val (Ensembl:ENST00000532639) - c.475A>G (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1943609136 | 161 | S>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118625005A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118625005A>G Locations: - p.Ser161Gly (Ensembl:ENST00000532639) - c.481A>G (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1943609808 | 162 | M>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118625009T>A Codon: ATG/AAG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118625009T>A Locations: - p.Met162Lys (Ensembl:ENST00000532639) - c.485T>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1212260831 | 163 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118625012T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118625012T>C Locations: - p.Ile163Thr (Ensembl:ENST00000532639) - c.488T>C (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1943611532 | 166 | G>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.417) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118625021G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118625021G>A Locations: - p.Gly166Glu (Ensembl:ENST00000532639) - c.497G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1382791675 | 167 | G>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118625024G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118625024G>A Locations: - p.Gly167Asp (Ensembl:ENST00000532639) - c.500G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1246151131 | 167 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118625023G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118625023G>C Locations: - p.Gly167Arg (Ensembl:ENST00000532639) - c.499G>C (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1335062695 | 168 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.118625026C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118625026C>T Locations: - p.R168* (NCI-TCGA:ENST00000532639) - p.Arg168Ter (Ensembl:ENST00000532639) - c.502C>T (Ensembl:ENST00000532639) Source type: large scale study | |||||||
rs368162598 | 168 | R>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118625027G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118625027G>A Locations: - p.Arg168Gln (Ensembl:ENST00000532639) - c.503G>A (Ensembl:ENST00000532639) Source type: large scale study | |||||||
COSV61882401 rs2136070348 | 170 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: deleterious - low confidence (0.02) Somatic: Yes Accession: NC_000011.10:g.118625032C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118625032C>T Locations: - p.P170S (NCI-TCGA:ENST00000532639) - p.Pro170Ser (Ensembl:ENST00000532639) - c.508C>T (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs267602716 | 172 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000011.10:g.118625038C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118625038C>T Locations: - p.Pro172Ser (Ensembl:ENST00000532639) - c.514C>T (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs782309166 | 173 | P>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.102) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000011.10:g.118625042C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118625042C>A Locations: - p.Pro173His (Ensembl:ENST00000532639) - c.518C>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs782309166 | 173 | P>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.194) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118625042C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118625042C>G Locations: - p.Pro173Arg (Ensembl:ENST00000532639) - c.518C>G (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1555099904 | 174 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.703) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.118625045A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118625045A>G Locations: - p.Tyr174Cys (Ensembl:ENST00000532639) - c.521A>G (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1943617842 | 175 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000011.10:g.118625047A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118625047A>G Locations: - p.Ser175Gly (Ensembl:ENST00000532639) - c.523A>G (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1555099937 | 177 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000011.10:g.118625053G>C Codon: GTT/CTT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118625053G>C Locations: - p.Val177Leu (Ensembl:ENST00000532639) - c.529G>C (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1943618935 | 179 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.612) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118625059G>C Codon: GCA/CCA Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118625059G>C Locations: - p.Ala179Pro (Ensembl:ENST00000532639) - c.535G>C (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1944051560 | 181 | S>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118627310T>A Codon: TCA/ACA Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118627310T>A Locations: - p.Ser181Thr (Ensembl:ENST00000532639) - c.541T>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1555102456 | 183 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.148) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118627317G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118627317G>A Locations: - p.Ser183Asn (Ensembl:ENST00000532639) - c.548G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs961908209 | 186 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.245) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118627326A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118627326A>G Locations: - p.Asn186Ser (Ensembl:ENST00000532639) - c.557A>G (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs782767250 | 190 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000011.10:g.118627337A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118627337A>G Locations: - p.Thr190Ala (Ensembl:ENST00000532639) - c.568A>G (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs782767250 | 190 | T>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000011.10:g.118627337A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118627337A>C Locations: - p.Thr190Pro (Ensembl:ENST00000532639) - c.568A>C (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs777986609 | 191 | P>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.652) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118627341C>G Codon: CCA/CGA Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118627341C>G Locations: - p.Pro191Arg (Ensembl:ENST00000532639) - c.572C>G (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs781783643 | 191 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118627340C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118627340C>T Locations: - p.Pro191Ser (Ensembl:ENST00000532639) - c.571C>T (Ensembl:ENST00000532639) Source type: large scale study | |||||||
rs1482364398 | 192 | Q>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.118627343C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118627343C>T Locations: - p.Gln192Ter (Ensembl:ENST00000532639) - c.574C>T (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1247204251 | 194 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000011.10:g.118627349G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118627349G>T Locations: - p.Ala194Ser (Ensembl:ENST00000532639) - c.580G>T (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1247204251 | 194 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.402) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.118627349G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118627349G>A Locations: - p.Ala194Thr (Ensembl:ENST00000532639) - c.580G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1282615343 | 194 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.488) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000011.10:g.118627350C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118627350C>T Locations: - p.Ala194Val (Ensembl:ENST00000532639) - c.581C>T (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
COSV61876830 rs782654049 | 196 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.09) Somatic: Yes Population frequencies: - MAF: 0.00001591 (gnomAD) Accession: NC_000011.10:g.118627356G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118627356G>A Locations: - p.R196Q (NCI-TCGA:ENST00000532639) - p.Arg196Gln (Ensembl:ENST00000532639) - c.587G>A (Ensembl:ENST00000532639) Source type: large scale study | |||||||
COSV100616173 rs145152438 | 196 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.796) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001591 (gnomAD) Accession: NC_000011.10:g.118627355C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118627355C>T Locations: - p.R196W (NCI-TCGA:ENST00000532639) - p.Arg196Trp (Ensembl:ENST00000532639) - c.586C>T (Ensembl:ENST00000532639) Source type: large scale study | |||||||
rs1555102656 | 197 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118627359G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118627359G>A Locations: - p.Gly197Glu (Ensembl:ENST00000532639) - c.590G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1944061201 | 198 | P>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.155) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118627361C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118627361C>A Locations: - p.Pro198Thr (Ensembl:ENST00000532639) - c.592C>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs782502548 | 200 | A>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.118627367G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118627367G>C Locations: - p.Ala200Pro (Ensembl:ENST00000532639) - c.598G>C (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs782646272 | 201 | C>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000011.10:g.118627371G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118627371G>A Locations: - p.Cys201Tyr (Ensembl:ENST00000532639) - c.602G>A (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs1555102681 | 202 | A>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118627373G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118627373G>C Locations: - p.Ala202Pro (Ensembl:ENST00000532639) - c.604G>C (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs782215373 | 203 | S>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.161) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118627376A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118627376A>G Locations: - p.Ser203Gly (Ensembl:ENST00000532639) - c.607A>G (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs782215373 | 203 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.846) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118627376A>C Codon: AGC/CGC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118627376A>C Locations: - p.Ser203Arg (Ensembl:ENST00000532639) - c.607A>C (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs782359369 | 204 | H>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118627379C>G Codon: CAC/GAC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118627379C>G Locations: - p.His204Asp (Ensembl:ENST00000532639) - c.610C>G (Ensembl:ENST00000532639) Source type: large scale study Cross-references: | |||||||
rs782595591 | 206 | S>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.118627386C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 11q23.3 Genomic location: NC_000011.10:g.118627386C>T Locations: - p.Ser206Phe (Ensembl:ENST00000532639) - c.617C>T (Ensembl:ENST00000532639) Source type: large scale study |