E9PS18 · E9PS18_HUMAN
- ProteinDelta(14)-sterol reductase TM7SF2
- GeneTM7SF2
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids219 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1947911014 | 2 | A>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NC_000011.10:g.65112019G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112019G>C Locations: - p.Ala2Pro (Ensembl:ENST00000526809) - c.4G>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
COSV107233533 rs746410125 | 2 | A>V | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.15) Somatic: Yes Accession: NC_000011.10:g.65112020C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112020C>T Locations: - p.Ala2Val (Ensembl:ENST00000526809) - c.5C>T (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs1198423120 | 3 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000011.10:g.65112023C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112023C>T Locations: - p.Pro3Leu (Ensembl:ENST00000526809) - c.8C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1484023001 | 3 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.24) Somatic: No Accession: NC_000011.10:g.65112022C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112022C>T Locations: - p.Pro3Ser (Ensembl:ENST00000526809) - c.7C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1947911180 | 4 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.59) Somatic: No Accession: NC_000011.10:g.65112025A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112025A>G Locations: - p.Thr4Ala (Ensembl:ENST00000526809) - c.10A>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs769826284 | 4 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.43) Somatic: No Accession: NC_000011.10:g.65112026C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112026C>T Locations: - p.Thr4Ile (Ensembl:ENST00000526809) - c.11C>T (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs769826284 | 4 | T>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.5) Somatic: No Accession: NC_000011.10:g.65112026C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112026C>G Locations: - p.Thr4Ser (Ensembl:ENST00000526809) - c.11C>G (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs1590815473 | 5 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.83) Somatic: No Accession: NC_000011.10:g.65112029A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112029A>G Locations: - p.Gln5Arg (Ensembl:ENST00000526809) - c.14A>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs775514606 | 6 | G>D | ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000011.10:g.65112032G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112032G>A Locations: - p.Gly6Asp (Ensembl:ENST00000526809) - c.17G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
COSV108085426 rs768848767 | 7 | P>L | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000011.10:g.65112035C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112035C>T Locations: - p.Pro7Leu (Ensembl:ENST00000526809) - c.20C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs763067450 | 7 | P>S | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.21) Somatic: No Accession: NC_000011.10:g.65112034C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112034C>T Locations: - p.Pro7Ser (Ensembl:ENST00000526809) - c.19C>T (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs1472555529 | 8 | R>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000011.10:g.65112038G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112038G>T Locations: - p.Arg8Leu (Ensembl:ENST00000526809) - c.23G>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1179865601 | 8 | R>W | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.65112037C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112037C>T Locations: - p.Arg8Trp (Ensembl:ENST00000526809) - c.22C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1947911619 | 9 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000011.10:g.65112040G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112040G>A Locations: - p.Ala9Thr (Ensembl:ENST00000526809) - c.25G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs774697135 | 10 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000011.10:g.65112043C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112043C>T Locations: - p.Pro10Ser (Ensembl:ENST00000526809) - c.28C>T (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs1947911708 | 11 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.65112047T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112047T>C Locations: - p.Leu11Pro (Ensembl:ENST00000526809) - c.32T>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1947911835 | 14 | G>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.65112056G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112056G>A Locations: - p.Gly14Glu (Ensembl:ENST00000526809) - c.41G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs532572337 | 14 | G>R | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.65112055G>A, NC_000011.10:g.65112055G>C Codon: GGA/AGA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112055G>A, NC_000011.10:g.65112055G>C Locations: - p.Gly14Arg (Ensembl:ENST00000526809) - c.40G>A (Ensembl:ENST00000526809) - c.40G>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs765316965 | 16 | P>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.31) Somatic: No Accession: NC_000011.10:g.65112061C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112061C>G Locations: - p.Pro16Ala (Ensembl:ENST00000526809) - c.46C>G (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs765316965 | 16 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000011.10:g.65112061C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112061C>T Locations: - p.Pro16Ser (Ensembl:ENST00000526809) - c.46C>T (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs752243591 | 17 | L>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000011.10:g.65112065T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112065T>C Locations: - p.Leu17Pro (Ensembl:ENST00000526809) - c.50T>C (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs752243591 | 17 | L>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65112065T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112065T>A Locations: - p.Leu17Gln (Ensembl:ENST00000526809) - c.50T>A (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs1947918548 | 18 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65112515G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112515G>T Locations: - p.Gly18Val (Ensembl:ENST00000526809) - c.53G>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1947918649 | 19 | A>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.65112518C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112518C>G Locations: - p.Ala19Gly (Ensembl:ENST00000526809) - c.56C>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1032053988 | 19 | A>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.65112517G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112517G>C Locations: - p.Ala19Pro (Ensembl:ENST00000526809) - c.55G>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1032053988 | 19 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.65112517G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112517G>T Locations: - p.Ala19Ser (Ensembl:ENST00000526809) - c.55G>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1032053988 | 19 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000011.10:g.65112517G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112517G>A Locations: - p.Ala19Thr (Ensembl:ENST00000526809) - c.55G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1047282998 | 20 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.65112521C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112521C>T Locations: - p.Ala20Val (Ensembl:ENST00000526809) - c.59C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1324620567 | 21 | A>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.65112524C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112524C>G Locations: - p.Ala21Gly (Ensembl:ENST00000526809) - c.62C>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1324620567 | 21 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.65112524C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112524C>T Locations: - p.Ala21Val (Ensembl:ENST00000526809) - c.62C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs891400616 | 23 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000011.10:g.65112530T>C Codon: CTA/CCA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112530T>C Locations: - p.Leu23Pro (Ensembl:ENST00000526809) - c.68T>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1436680054 | 27 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65112542C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112542C>T Locations: - p.Pro27Leu (Ensembl:ENST00000526809) - c.80C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs552926486 | 28 | A>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.65112544G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112544G>T Locations: - p.Ala28Ser (Ensembl:ENST00000526809) - c.82G>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs552926486 | 28 | A>T | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000011.10:g.65112544G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112544G>A Locations: - p.Ala28Thr (Ensembl:ENST00000526809) - c.82G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs573100022 | 28 | A>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000011.10:g.65112545C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112545C>T Locations: - p.Ala28Val (Ensembl:ENST00000526809) - c.83C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs367955365 | 29 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.65112547A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112547A>G Locations: - p.Thr29Ala (Ensembl:ENST00000526809) - c.85A>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1320429480 | 30 | M>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000011.10:g.65112552G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112552G>A Locations: - p.Met30Ile (Ensembl:ENST00000526809) - c.90G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs765262117 | 30 | M>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.65112551T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112551T>C Locations: - p.Met30Thr (Ensembl:ENST00000526809) - c.89T>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1353982024 | 30 | M>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.65112550A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112550A>G Locations: - p.Met30Val (Ensembl:ENST00000526809) - c.88A>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1233531752 | 32 | H>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.65112557A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112557A>C Locations: - p.His32Pro (Ensembl:ENST00000526809) - c.95A>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs868094478 | 34 | L>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000011.10:g.65112562C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112562C>A Locations: - p.Leu34Ile (Ensembl:ENST00000526809) - c.100C>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs762494844 | 36 | A>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000011.10:g.65112569C>G Codon: GCG/GGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112569C>G Locations: - p.Ala36Gly (Ensembl:ENST00000526809) - c.107C>G (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs762494844 | 36 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000011.10:g.65112569C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112569C>T Locations: - p.Ala36Val (Ensembl:ENST00000526809) - c.107C>T (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs1947919581 | 37 | A>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.65112572C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112572C>A Locations: - p.Ala37Asp (Ensembl:ENST00000526809) - c.110C>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs982011193 | 38 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.65112574C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112574C>T Locations: - p.Arg38Cys (Ensembl:ENST00000526809) - c.112C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs781766885 | 38 | R>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000011.10:g.65112575G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112575G>A Locations: - p.Arg38His (Ensembl:ENST00000526809) - c.113G>A (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs781766885 | 38 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000011.10:g.65112575G>T Codon: CGT/CTT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112575G>T Locations: - p.Arg38Leu (Ensembl:ENST00000526809) - c.113G>T (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs781766885 | 38 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000011.10:g.65112575G>C Codon: CGT/CCT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112575G>C Locations: - p.Arg38Pro (Ensembl:ENST00000526809) - c.113G>C (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs767122038 | 39 | S>L | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.65112578C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112578C>T Locations: - p.Ser39Leu (Ensembl:ENST00000526809) - c.116C>T (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs767122038 | 39 | S>W | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65112578C>G Codon: TCG/TGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112578C>G Locations: - p.Ser39Trp (Ensembl:ENST00000526809) - c.116C>G (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs750770040 | 40 | G>C | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.65112580G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112580G>T Locations: - p.Gly40Cys (Ensembl:ENST00000526809) - c.118G>T (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs750770040 | 40 | G>R | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.65112580G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112580G>C Locations: - p.Gly40Arg (Ensembl:ENST00000526809) - c.118G>C (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs750770040 | 40 | G>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000011.10:g.65112580G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112580G>A Locations: - p.Gly40Ser (Ensembl:ENST00000526809) - c.118G>A (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs1164077624 | 40 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000011.10:g.65112581G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112581G>T Locations: - p.Gly40Val (Ensembl:ENST00000526809) - c.119G>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs756534085 | 41 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.65112583C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112583C>T Locations: - p.Pro41Ser (Ensembl:ENST00000526809) - c.121C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1317958921 | 42 | A>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.65112587C>A Codon: GCG/GAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112587C>A Locations: - p.Ala42Glu (Ensembl:ENST00000526809) - c.125C>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs371186990 | 43 | R>C | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.65112589C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112589C>T Locations: - p.Arg43Cys (Ensembl:ENST00000526809) - c.127C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1286298401 | 43 | R>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000011.10:g.65112590G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112590G>A Locations: - p.Arg43His (Ensembl:ENST00000526809) - c.128G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1377483659 | 44 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000011.10:g.65112593T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112593T>C Locations: - p.Leu44Pro (Ensembl:ENST00000526809) - c.131T>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1289472111 | 45 | L>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.65112595C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112595C>A Locations: - p.Leu45Met (Ensembl:ENST00000526809) - c.133C>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1331857216 | 45 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65112596T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112596T>C Locations: - p.Leu45Pro (Ensembl:ENST00000526809) - c.134T>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1267664876 | 46 | G>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.65112598G>T Codon: GGT/TGT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112598G>T Locations: - p.Gly46Cys (Ensembl:ENST00000526809) - c.136G>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1267664876 | 46 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.65112598G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112598G>A Locations: - p.Gly46Ser (Ensembl:ENST00000526809) - c.136G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1443204531 | 46 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.65112599G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112599G>T Locations: - p.Gly46Val (Ensembl:ENST00000526809) - c.137G>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1235973414 | 47 | P>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.65112602C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112602C>A Locations: - p.Pro47Gln (Ensembl:ENST00000526809) - c.140C>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1212576392 | 47 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.65112601C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112601C>T Locations: - p.Pro47Ser (Ensembl:ENST00000526809) - c.139C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1212576392 | 47 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000011.10:g.65112601C>A Codon: CCA/ACA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112601C>A Locations: - p.Pro47Thr (Ensembl:ENST00000526809) - c.139C>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1471658328 | 48 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000011.10:g.65112604C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112604C>T Locations: - p.Pro48Ser (Ensembl:ENST00000526809) - c.142C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1412529879 | 49 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.75) Somatic: No Accession: NC_000011.10:g.65112607G>T Codon: GCG/TCG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112607G>T Locations: - p.Ala49Ser (Ensembl:ENST00000526809) - c.145G>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1412529879 | 49 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000011.10:g.65112607G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112607G>A Locations: - p.Ala49Thr (Ensembl:ENST00000526809) - c.145G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs773375844 | 50 | S>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.65112611C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112611C>T Locations: - p.Ser50Phe (Ensembl:ENST00000526809) - c.149C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
COSV54208142 rs1414650276 | 51 | L>M | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.22) Somatic: Yes Accession: NC_000011.10:g.65112613C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112613C>A Locations: - p.Leu51Met (Ensembl:ENST00000526809) - c.151C>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1357094628 | 52 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000011.10:g.65112616C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112616C>T Locations: - p.Pro52Ser (Ensembl:ENST00000526809) - c.154C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1352866861 | 53 | G>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.65112620G>C Codon: GGG/GCG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112620G>C Locations: - p.Gly53Ala (Ensembl:ENST00000526809) - c.158G>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1309023964 | 53 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.65112619G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112619G>A Locations: - p.Gly53Arg (Ensembl:ENST00000526809) - c.157G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1352866861 | 53 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.65112620G>T Codon: GGG/GTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112620G>T Locations: - p.Gly53Val (Ensembl:ENST00000526809) - c.158G>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1309023964 | 53 | G>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65112619G>T Codon: GGG/TGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112619G>T Locations: - p.Gly53Trp (Ensembl:ENST00000526809) - c.157G>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs901336141 | 54 | L>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65112622C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112622C>A Locations: - p.Leu54Met (Ensembl:ENST00000526809) - c.160C>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1345858699 | 55 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.85) Somatic: No Accession: NC_000011.10:g.65112625G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112625G>A Locations: - p.Glu55Lys (Ensembl:ENST00000526809) - c.163G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1590815919 | 56 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000011.10:g.65112629T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112629T>G Locations: - p.Val56Gly (Ensembl:ENST00000526809) - c.167T>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs775524238 | 56 | V>M | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000011.10:g.65112628G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112628G>A Locations: - p.Val56Met (Ensembl:ENST00000526809) - c.166G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1947921719 | 57 | L>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65112632T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112632T>G Locations: - p.Leu57Arg (Ensembl:ENST00000526809) - c.170T>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1209878998 | 58 | W>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.65112635G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112635G>A Locations: - p.Trp58Ter (Ensembl:ENST00000526809) - c.173G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1252342331 | 59 | S>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000011.10:g.65112637A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112637A>G Locations: - p.Ser59Gly (Ensembl:ENST00000526809) - c.175A>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1483982385 | 59 | S>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000011.10:g.65112639C>G Codon: AGC/AGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112639C>G Locations: - p.Ser59Arg (Ensembl:ENST00000526809) - c.177C>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs998404964 | 60 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000011.10:g.65112640C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112640C>T Locations: - p.Pro60Ser (Ensembl:ENST00000526809) - c.178C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1179972352 | 61 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000011.10:g.65112643C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112643C>G Locations: - p.Arg61Gly (Ensembl:ENST00000526809) - c.181C>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1363187058 | 61 | R>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.65112644G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112644G>C Locations: - p.Arg61Pro (Ensembl:ENST00000526809) - c.182G>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1363187058 | 61 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000011.10:g.65112644G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112644G>A Locations: - p.Arg61Gln (Ensembl:ENST00000526809) - c.182G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1179972352 | 61 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000011.10:g.65112643C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112643C>T Locations: - p.Arg61Trp (Ensembl:ENST00000526809) - c.181C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1173836529 | 62 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000011.10:g.65112647C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112647C>T Locations: - p.Ala62Val (Ensembl:ENST00000526809) - c.185C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1157207889 | 65 | L>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.65112656T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112656T>A Locations: - p.Leu65Gln (Ensembl:ENST00000526809) - c.194T>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1947923456 | 66 | W>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.65112660G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112660G>A Locations: - p.Trp66Ter (Ensembl:ENST00000526809) - c.198G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1401383341 | 66 | W>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000011.10:g.65112658T>G Codon: TGG/GGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112658T>G Locations: - p.Trp66Gly (Ensembl:ENST00000526809) - c.196T>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1309009174 | 67 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000011.10:g.65112661C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112661C>G Locations: - p.Leu67Val (Ensembl:ENST00000526809) - c.199C>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
COSV54208639 rs1947923566 | 68 | A>T | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.1) Somatic: Yes Accession: NC_000011.10:g.65112664G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112664G>A Locations: - p.Ala68Thr (Ensembl:ENST00000526809) - c.202G>A (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs1590815968 | 69 | W>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.65112669G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112669G>A Locations: - p.Trp69Ter (Ensembl:ENST00000526809) - c.207G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1947923606 | 69 | W>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.65112667T>A Codon: TGG/AGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112667T>A Locations: - p.Trp69Arg (Ensembl:ENST00000526809) - c.205T>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1421050244 | 70 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.9) Somatic: No Accession: NC_000011.10:g.65112670C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112670C>T Locations: - p.Leu70Phe (Ensembl:ENST00000526809) - c.208C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1421050244 | 70 | L>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.65112670C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112670C>A Locations: - p.Leu70Ile (Ensembl:ENST00000526809) - c.208C>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1408509054 | 72 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.65112676C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112676C>G Locations: - p.Leu72Val (Ensembl:ENST00000526809) - c.214C>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs2137200427 | 73 | Q>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.65112679C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112679C>G Locations: - p.Gln73Glu (Ensembl:ENST00000526809) - c.217C>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1328711241 | 74 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000011.10:g.65112683C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112683C>T Locations: - p.Ala74Val (Ensembl:ENST00000526809) - c.221C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1947923931 | 75 | A>G | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000011.10:g.65112686C>G Codon: GCG/GGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112686C>G Locations: - p.Ala75Gly (Ensembl:ENST00000526809) - c.224C>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs2137200448 | 75 | A>P | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.65112685G>C Codon: GCG/CCG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112685G>C Locations: - p.Ala75Pro (Ensembl:ENST00000526809) - c.223G>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs2137200448 | 75 | A>T | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000011.10:g.65112685G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112685G>A Locations: - p.Ala75Thr (Ensembl:ENST00000526809) - c.223G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1947923931 | 75 | A>V | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000011.10:g.65112686C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112686C>T Locations: - p.Ala75Val (Ensembl:ENST00000526809) - c.224C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
COSV54205998 rs2137200473 | 76 | L>I | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000011.10:g.65112688C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112688C>A Locations: - p.Leu76Ile (Ensembl:ENST00000526809) - c.226C>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1947923970 | 77 | Y>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.65112693C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112693C>G Locations: - p.Tyr77Ter (Ensembl:ENST00000526809) - c.231C>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs2137200493 | 77 | Y>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000011.10:g.65112691T>A Codon: TAC/AAC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112691T>A Locations: - p.Tyr77Asn (Ensembl:ENST00000526809) - c.229T>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1254793702 | 78 | L>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000011.10:g.65112694C>A Codon: CTA/ATA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112694C>A Locations: - p.Leu78Ile (Ensembl:ENST00000526809) - c.232C>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs2137200514 | 78 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.65112695T>C Codon: CTA/CCA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112695T>C Locations: - p.Leu78Pro (Ensembl:ENST00000526809) - c.233T>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1254793702 | 78 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000011.10:g.65112694C>G Codon: CTA/GTA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112694C>G Locations: - p.Leu78Val (Ensembl:ENST00000526809) - c.232C>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1947924039 | 79 | L>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.65112698T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112698T>C Locations: - p.Leu79Pro (Ensembl:ENST00000526809) - c.236T>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1273220359 | 80 | P>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65112700C>G Codon: CCG/GCG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112700C>G Locations: - p.Pro80Ala (Ensembl:ENST00000526809) - c.238C>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1347410878 | 80 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65112701C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112701C>T Locations: - p.Pro80Leu (Ensembl:ENST00000526809) - c.239C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1347410878 | 80 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65112701C>G Codon: CCG/CGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112701C>G Locations: - p.Pro80Arg (Ensembl:ENST00000526809) - c.239C>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs544392611 | 81 | A>G | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.53) Somatic: No Accession: NC_000011.10:g.65112704C>G Codon: GCG/GGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112704C>G Locations: - p.Ala81Gly (Ensembl:ENST00000526809) - c.242C>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs544392611 | 81 | A>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.35) Somatic: No Accession: NC_000011.10:g.65112704C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112704C>T Locations: - p.Ala81Val (Ensembl:ENST00000526809) - c.242C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1947924279 | 82 | R>G | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.426) - SIFT: tolerated - low confidence (0.24) Somatic: No Accession: NC_000011.10:g.65112706C>G Codon: CGC/GGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112706C>G Locations: - p.Arg82Gly (Ensembl:ENST00000526809) - c.244C>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
COSV54207462 rs563774622 | 82 | R>H | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.809) - SIFT: tolerated - low confidence (0.13) Somatic: Yes Accession: NC_000011.10:g.65112707G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112707G>A Locations: - p.Arg82His (Ensembl:ENST00000526809) - c.245G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs563774622 | 82 | R>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.426) - SIFT: tolerated - low confidence (0.33) Somatic: No Accession: NC_000011.10:g.65112707G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112707G>T Locations: - p.Arg82Leu (Ensembl:ENST00000526809) - c.245G>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1947924382 | 83 | K>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.65112709A>T Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65112709A>T Locations: - p.Lys83Ter (Ensembl:ENST00000526809) - c.247A>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1947953183 | 84 | V>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114714T>G Codon: GTC/GGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114714T>G Locations: - p.Val84Gly (Ensembl:ENST00000526809) - c.251T>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1013606088 | 84 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.901) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.65114713G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114713G>A Locations: - p.Val84Ile (Ensembl:ENST00000526809) - c.250G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1947953331 | 87 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114723A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114723A>G Locations: - p.Asn87Ser (Ensembl:ENST00000526809) - c.260A>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1191421411 | 88 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114726T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114726T>C Locations: - p.Leu88Pro (Ensembl:ENST00000526809) - c.263T>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1191421411 | 88 | L>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114726T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114726T>A Locations: - p.Leu88Gln (Ensembl:ENST00000526809) - c.263T>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
COSV105848653 rs778766450 | 91 | L>S | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.914) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000011.10:g.65114735T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114735T>C Locations: - p.Leu91Ser (Ensembl:ENST00000526809) - c.272T>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs748516890 | 92 | M>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.65114737A>C Codon: ATG/CTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114737A>C Locations: - p.Met92Leu (Ensembl:ENST00000526809) - c.274A>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1192923440 | 92 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.65114738T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114738T>C Locations: - p.Met92Thr (Ensembl:ENST00000526809) - c.275T>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs71468691 | 94 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.832) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000011.10:g.65114743G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114743G>A Locations: - p.Glu94Lys (Ensembl:ENST00000526809) - c.280G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1476505341 | 95 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.119) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000011.10:g.65114746G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114746G>A Locations: - p.Ala95Thr (Ensembl:ENST00000526809) - c.283G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1239886182 | 96 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.459) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000011.10:g.65114749G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114749G>A Locations: - p.Glu96Lys (Ensembl:ENST00000526809) - c.286G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1947953869 | 97 | L>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.23) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.65114752C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114752C>T Locations: - p.Leu97Phe (Ensembl:ENST00000526809) - c.289C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
COSV104379903 rs772488065 | 98 | R>* | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.65114755C>T Codon: CGA/TGA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114755C>T Locations: - p.Arg98Ter (Ensembl:ENST00000526809) - c.292C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs772488065 | 98 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.716) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.65114755C>G Codon: CGA/GGA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114755C>G Locations: - p.Arg98Gly (Ensembl:ENST00000526809) - c.292C>G (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs183249527 | 98 | R>Q | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.187) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000011.10:g.65114756G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114756G>A Locations: - p.Arg98Gln (Ensembl:ENST00000526809) - c.293G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1947954037 | 99 | G>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114758G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114758G>T Locations: - p.Gly99Cys (Ensembl:ENST00000526809) - c.295G>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1947954037 | 99 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114758G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114758G>C Locations: - p.Gly99Arg (Ensembl:ENST00000526809) - c.295G>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1287359290 | 101 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.249) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114765C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114765C>T Locations: - p.Pro101Leu (Ensembl:ENST00000526809) - c.302C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs201108253 | 102 | S>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114768C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114768C>T Locations: - p.Ser102Leu (Ensembl:ENST00000526809) - c.305C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1947954232 | 104 | A>T | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.59) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114773G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114773G>A Locations: - p.Ala104Thr (Ensembl:ENST00000526809) - c.310G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs776671000 | 105 | M>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.89) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114777T>A Codon: ATG/AAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114777T>A Locations: - p.Met105Lys (Ensembl:ENST00000526809) - c.314T>A (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs1383094677 | 105 | M>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.152) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000011.10:g.65114776A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114776A>T Locations: - p.Met105Leu (Ensembl:ENST00000526809) - c.313A>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs776671000 | 105 | M>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.697) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114777T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114777T>C Locations: - p.Met105Thr (Ensembl:ENST00000526809) - c.314T>C (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs374920822 | 106 | W>* | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000011.10:g.65114781G>A Codon: TGG/TGA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114781G>A Locations: - p.Trp106Ter (Ensembl:ENST00000526809) - c.318G>A (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs2137205351 | 106 | W>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.646) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114779T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114779T>C Locations: - p.Trp106Arg (Ensembl:ENST00000526809) - c.316T>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs759674435 | 106 | W>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.366) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114780G>C Codon: TGG/TCG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114780G>C Locations: - p.Trp106Ser (Ensembl:ENST00000526809) - c.317G>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs775696515 | 108 | V>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114786T>C Codon: GTC/GCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114786T>C Locations: - p.Val108Ala (Ensembl:ENST00000526809) - c.323T>C (Ensembl:ENST00000526809) Source type: large scale study | |||||||
COSV54207249 rs775696515 | 108 | V>G | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000011.10:g.65114786T>G Codon: GTC/GGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114786T>G Locations: - p.Val108Gly (Ensembl:ENST00000526809) - c.323T>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs761460155 | 109 | N>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.249) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.65114789A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114789A>G Locations: - p.Asn109Ser (Ensembl:ENST00000526809) - c.326A>G (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs1590817181 | 110 | G>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.65114791G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114791G>A Locations: - p.Gly110Ser (Ensembl:ENST00000526809) - c.328G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1947954783 | 112 | Q>* | TOPMed gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000011.10:g.65114797C>T Codon: CAG/TAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114797C>T Locations: - p.Gln112Ter (Ensembl:ENST00000526809) - c.334C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1333456934 | 113 | L>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.359) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114801T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114801T>C Locations: - p.Leu113Ser (Ensembl:ENST00000526809) - c.338T>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs867555087 | 115 | Y>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114806T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114806T>C Locations: - p.Tyr115His (Ensembl:ENST00000526809) - c.343T>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
COSV54208584 rs1947954968 | 116 | V>M | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000011.10:g.65114809G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114809G>A Locations: - p.Val116Met (Ensembl:ENST00000526809) - c.346G>A (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs1947955010 | 117 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.575) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.65114813G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114813G>A Locations: - p.Gly117Asp (Ensembl:ENST00000526809) - c.350G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1262050128 | 118 | D>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114816A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114816A>T Locations: - p.Asp118Val (Ensembl:ENST00000526809) - c.353A>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1204902286 | 119 | A>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114819C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114819C>A Locations: - p.Ala119Asp (Ensembl:ENST00000526809) - c.356C>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1348179563 | 119 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.65114818G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114818G>A Locations: - p.Ala119Thr (Ensembl:ENST00000526809) - c.355G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1258714589 | 120 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.897) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.65114821C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114821C>T Locations: - p.Leu120Phe (Ensembl:ENST00000526809) - c.358C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1258714589 | 120 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114821C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114821C>G Locations: - p.Leu120Val (Ensembl:ENST00000526809) - c.358C>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs772980923 | 122 | H>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000011.10:g.65114827C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114827C>T Locations: - p.His122Tyr (Ensembl:ENST00000526809) - c.364C>T (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs760505763 | 123 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114830G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114830G>A Locations: - p.Glu123Lys (Ensembl:ENST00000526809) - c.367G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs760505763 | 123 | E>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114830G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114830G>C Locations: - p.Glu123Gln (Ensembl:ENST00000526809) - c.367G>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1947956692 | 124 | E>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.742) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114915G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114915G>C Locations: - p.Glu124Asp (Ensembl:ENST00000526809) - c.372G>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs868412324 | 124 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.637) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114913G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114913G>A Locations: - p.Glu124Lys (Ensembl:ENST00000526809) - c.370G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs148878643 | 126 | V>I | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.129) - SIFT: tolerated (0.72) Somatic: No Accession: NC_000011.10:g.65114919G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114919G>A Locations: - p.Val126Ile (Ensembl:ENST00000526809) - c.376G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1292710984 | 129 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.65114928A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114928A>G Locations: - p.Thr129Ala (Ensembl:ENST00000526809) - c.385A>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs766413625 | 129 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.957) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114929C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114929C>T Locations: - p.Thr129Ile (Ensembl:ENST00000526809) - c.386C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs776714853 | 130 | M>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114932T>G Codon: ATG/AGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114932T>G Locations: - p.Met130Arg (Ensembl:ENST00000526809) - c.389T>G (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs776714853 | 130 | M>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114932T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114932T>C Locations: - p.Met130Thr (Ensembl:ENST00000526809) - c.389T>C (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs200355387 | 131 | D>Y | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114934G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114934G>T Locations: - p.Asp131Tyr (Ensembl:ENST00000526809) - c.391G>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1285327732 | 132 | I>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114938T>G Codon: ATC/AGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114938T>G Locations: - p.Ile132Ser (Ensembl:ENST00000526809) - c.395T>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1947957287 | 134 | H>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114944A>C Codon: CAT/CCT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114944A>C Locations: - p.His134Pro (Ensembl:ENST00000526809) - c.401A>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs758049533 | 134 | H>Y | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.474) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.65114943C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114943C>T Locations: - p.His134Tyr (Ensembl:ENST00000526809) - c.400C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs763712793 | 135 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.729) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.65114948C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114948C>A Locations: - p.Asp135Glu (Ensembl:ENST00000526809) - c.405C>A (Ensembl:ENST00000526809) Source type: large scale study | |||||||
COSV54206582 rs143577587 | 136 | G>R | Variant of uncertain significance (Ensembl) | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000011.10:g.65114949G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114949G>A Locations: - p.Gly136Arg (Ensembl:ENST00000526809) - c.406G>A (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs143577587 | 136 | G>W | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114949G>T Codon: GGG/TGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114949G>T Locations: - p.Gly136Trp (Ensembl:ENST00000526809) - c.406G>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs902293592 | 137 | F>L | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.65114952T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114952T>C Locations: - p.Phe137Leu (Ensembl:ENST00000526809) - c.409T>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs902293592 | 137 | F>V | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114952T>G Codon: TTT/GTT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114952T>G Locations: - p.Phe137Val (Ensembl:ENST00000526809) - c.409T>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1947957595 | 140 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114962T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114962T>C Locations: - p.Met140Thr (Ensembl:ENST00000526809) - c.419T>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
COSV54207136 rs551357064 | 142 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.169) - SIFT: tolerated (0.27) Somatic: Yes Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000011.10:g.65114968C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114968C>T Locations: - p.A142V (NCI-TCGA:ENST00000526809) - p.Ala142Val (Ensembl:ENST00000526809) - c.425C>T (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs1947957824 | 143 | F>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114971T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114971T>C Locations: - p.Phe143Ser (Ensembl:ENST00000526809) - c.428T>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs895322845 | 146 | M>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.65114981G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114981G>A Locations: - p.Met146Ile (Ensembl:ENST00000526809) - c.438G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
COSV54208615 rs768906444 | 148 | W>* | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.65114987G>A Codon: TGG/TGA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114987G>A Locations: - p.Trp148Ter (Ensembl:ENST00000526809) - c.444G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs749373964 | 148 | W>G | ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114985T>G Codon: TGG/GGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114985T>G Locations: - p.Trp148Gly (Ensembl:ENST00000526809) - c.442T>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs749373964 | 148 | W>R | ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114985T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114985T>C Locations: - p.Trp148Arg (Ensembl:ENST00000526809) - c.442T>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1590817326 | 149 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114989T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114989T>G Locations: - p.Val149Gly (Ensembl:ENST00000526809) - c.446T>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs774501532 | 149 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114988G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114988G>A Locations: - p.Val149Met (Ensembl:ENST00000526809) - c.445G>A (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs1947958186 | 150 | P>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114992C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114992C>G Locations: - p.Pro150Arg (Ensembl:ENST00000526809) - c.449C>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1947958266 | 151 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114994T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114994T>C Locations: - p.Phe151Leu (Ensembl:ENST00000526809) - c.451T>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1590817328 | 152 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65114997A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65114997A>C Locations: - p.Thr152Pro (Ensembl:ENST00000526809) - c.454A>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1452881698 | 153 | Y>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.65115002C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115002C>G Locations: - p.Tyr153Ter (Ensembl:ENST00000526809) - c.459C>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs375674215 | 153 | Y>C | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65115001A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115001A>G Locations: - p.Tyr153Cys (Ensembl:ENST00000526809) - c.458A>G (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs1013053449 | 154 | S>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.345) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000011.10:g.65115004G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115004G>C Locations: - p.Ser154Thr (Ensembl:ENST00000526809) - c.461G>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs770862173 | 155 | L>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65115006C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115006C>G Locations: - p.Leu155Val (Ensembl:ENST00000526809) - c.463C>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1947958533 | 157 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.848) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000011.10:g.65115012G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115012G>T Locations: - p.Ala157Ser (Ensembl:ENST00000526809) - c.469G>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1947958573 | 158 | Q>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.65115015C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115015C>T Locations: - p.Gln158Ter (Ensembl:ENST00000526809) - c.472C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs776660302 | 158 | Q>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000011.10:g.65115017G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115017G>T Locations: - p.Gln158His (Ensembl:ENST00000526809) - c.474G>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1428922520 | 158 | Q>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.85) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000011.10:g.65115016A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115016A>C Locations: - p.Gln158Pro (Ensembl:ENST00000526809) - c.473A>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1565324478 | 162 | H>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000011.10:g.65115029C>G Codon: CAC/CAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115029C>G Locations: - p.His162Gln (Ensembl:ENST00000526809) - c.486C>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs187240326 | 164 | P>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.897) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65115034C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115034C>T Locations: - p.Pro164Leu (Ensembl:ENST00000526809) - c.491C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1947958927 | 165 | Q>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.65115036C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115036C>T Locations: - p.Gln165Ter (Ensembl:ENST00000526809) - c.493C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
COSV99659590 rs762439033 | 166 | P>H | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000011.10:g.65115040C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115040C>A Locations: - p.Pro166His (Ensembl:ENST00000526809) - c.497C>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
COSV99659588 rs775054516 | 166 | P>T | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.28) Somatic: Yes Accession: NC_000011.10:g.65115039C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115039C>A Locations: - p.Pro166Thr (Ensembl:ENST00000526809) - c.496C>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1947959177 | 167 | L>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.814) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65115043T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115043T>C Locations: - p.Leu167Pro (Ensembl:ENST00000526809) - c.500T>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs751188189 | 168 | G>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.65115046G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115046G>A Locations: - p.Gly168Glu (Ensembl:ENST00000526809) - c.503G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs763739423 | 168 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.598) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65115045G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115045G>A Locations: - p.Gly168Arg (Ensembl:ENST00000526809) - c.502G>A (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs762121544 | 171 | M>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000011.10:g.65115055T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115055T>C Locations: - p.Met171Thr (Ensembl:ENST00000526809) - c.512T>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1233977520 | 171 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.87) Somatic: No Accession: NC_000011.10:g.65115054A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115054A>G Locations: - p.Met171Val (Ensembl:ENST00000526809) - c.511A>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1213249801 | 175 | I>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.829) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.65115067T>G Codon: ATC/AGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115067T>G Locations: - p.Ile175Ser (Ensembl:ENST00000526809) - c.524T>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1213249801 | 175 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65115067T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115067T>C Locations: - p.Ile175Thr (Ensembl:ENST00000526809) - c.524T>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs374474834 | 176 | C>* | ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.65115071C>A Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115071C>A Locations: - p.Cys176Ter (Ensembl:ENST00000526809) - c.528C>A (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs368684139 | 179 | N>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.384) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.65115079A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115079A>G Locations: - p.Asn179Ser (Ensembl:ENST00000526809) - c.536A>G (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs768077110 | 180 | A>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.935) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000011.10:g.65115314C>A Codon: GCT/GAT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115314C>A Locations: - p.Ala180Asp (Ensembl:ENST00000526809) - c.539C>A (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs768077110 | 180 | A>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000011.10:g.65115314C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115314C>G Locations: - p.Ala180Gly (Ensembl:ENST00000526809) - c.539C>G (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs1565324609 | 180 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.482) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000011.10:g.65115081G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115081G>A Locations: - p.Ala180Thr (Ensembl:ENST00000526809) - c.538G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1947963696 | 182 | G>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65115320G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115320G>A Locations: - p.Gly182Asp (Ensembl:ENST00000526809) - c.545G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs761419824 | 183 | Y>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.65115324C>A Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115324C>A Locations: - p.Tyr183Ter (Ensembl:ENST00000526809) - c.549C>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs767202148 | 184 | Y>C | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.474) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.65115326A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115326A>G Locations: - p.Tyr184Cys (Ensembl:ENST00000526809) - c.551A>G (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs767202148 | 184 | Y>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.269) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000011.10:g.65115326A>C Codon: TAC/TCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115326A>C Locations: - p.Tyr184Ser (Ensembl:ENST00000526809) - c.551A>C (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs1354129124 | 185 | I>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.542) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65115328A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115328A>C Locations: - p.Ile185Leu (Ensembl:ENST00000526809) - c.553A>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1354129124 | 185 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.276) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000011.10:g.65115328A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115328A>G Locations: - p.Ile185Val (Ensembl:ENST00000526809) - c.553A>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs948814150 | 186 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65115333C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115333C>A Locations: - p.Phe186Leu (Ensembl:ENST00000526809) - c.558C>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs377189788 | 187 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000004007 (gnomAD) Accession: NC_000011.10:g.65115334C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115334C>T Locations: - p.R187C (NCI-TCGA:ENST00000526809) - p.Arg187Cys (Ensembl:ENST00000526809) - c.559C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs377189788 | 187 | R>G | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65115334C>G Codon: CGT/GGT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115334C>G Locations: - p.Arg187Gly (Ensembl:ENST00000526809) - c.559C>G (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs369865834 | 187 | R>H | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65115335G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115335G>A Locations: - p.Arg187His (Ensembl:ENST00000526809) - c.560G>A (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs190564223 | 188 | G>E | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.675) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000011.10:g.65115338G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115338G>A Locations: - p.Gly188Glu (Ensembl:ENST00000526809) - c.563G>A (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs573857198 | 189 | A>S | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.679) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000011.10:g.65115340G>T Codon: GCG/TCG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115340G>T Locations: - p.Ala189Ser (Ensembl:ENST00000526809) - c.565G>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1014972652 | 189 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.936) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65115341C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115341C>T Locations: - p.Ala189Val (Ensembl:ENST00000526809) - c.566C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs752875093 | 190 | N>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65115345T>A Codon: AAT/AAA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115345T>A Locations: - p.Asn190Lys (Ensembl:ENST00000526809) - c.570T>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs758681533 | 193 | K>E | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65115352A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115352A>G Locations: - p.Lys193Glu (Ensembl:ENST00000526809) - c.577A>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs376738474 | 195 | T>I | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.485) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000011.10:g.65115359C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115359C>T Locations: - p.Thr195Ile (Ensembl:ENST00000526809) - c.584C>T (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs778210498 | 195 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.45) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000011.10:g.65115358A>T Codon: ACT/TCT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115358A>T Locations: - p.Thr195Ser (Ensembl:ENST00000526809) - c.583A>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
COSV54206318 rs769493365 | 197 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.000004007 (gnomAD) Accession: NC_000011.10:g.65115364C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115364C>T Locations: - p.R197* (NCI-TCGA:ENST00000526809) - p.Arg197Ter (Ensembl:ENST00000526809) - c.589C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs201258810 | 197 | R>P | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65115365G>C Codon: CGA/CCA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115365G>C Locations: - p.Arg197Pro (Ensembl:ENST00000526809) - c.590G>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs201258810 | 197 | R>Q | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65115365G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115365G>A Locations: - p.Arg197Gln (Ensembl:ENST00000526809) - c.590G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1590817566 | 199 | N>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65115371A>T Codon: AAT/ATT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115371A>T Locations: - p.Asn199Ile (Ensembl:ENST00000526809) - c.596A>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs773709021 | 199 | N>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65115372T>A Codon: AAT/AAA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115372T>A Locations: - p.Asn199Lys (Ensembl:ENST00000526809) - c.597T>A (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs546134704 | 200 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65115374C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115374C>T Locations: - p.Pro200Leu (Ensembl:ENST00000526809) - c.599C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1263894495 | 200 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.65115373C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115373C>T Locations: - p.Pro200Ser (Ensembl:ENST00000526809) - c.598C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs747710223 | 203 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.936) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.65115382C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115382C>T Locations: - p.Pro203Ser (Ensembl:ENST00000526809) - c.607C>T (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs771706431 | 204 | R>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.11) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65115386G>T Codon: AGA/ATA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115386G>T Locations: - p.Arg204Ile (Ensembl:ENST00000526809) - c.611G>T (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs372729147 | 205 | V>G | ESP | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65115389T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115389T>G Locations: - p.Val205Gly (Ensembl:ENST00000526809) - c.614T>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs772852483 | 205 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.322) - SIFT: tolerated (0.7) Somatic: No Accession: NC_000011.10:g.65115388G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115388G>C Locations: - p.Val205Leu (Ensembl:ENST00000526809) - c.613G>C (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs760970320 | 206 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.359) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000011.10:g.65115391G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115391G>T Locations: - p.Ala206Ser (Ensembl:ENST00000526809) - c.616G>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs760970320 | 206 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.832) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000011.10:g.65115391G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115391G>A Locations: - p.Ala206Thr (Ensembl:ENST00000526809) - c.616G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1282929940 | 209 | E>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.23) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.65115482A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115482A>C Locations: - p.Glu209Ala (Ensembl:ENST00000526809) - c.626A>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
COSV54207436 rs371080784 | 209 | E>K | cosmic curated ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000011.10:g.65115481G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115481G>A Locations: - p.Glu209Lys (Ensembl:ENST00000526809) - c.625G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs371080784 | 209 | E>Q | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.231) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.65115481G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115481G>C Locations: - p.Glu209Gln (Ensembl:ENST00000526809) - c.625G>C (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs1565325260 | 210 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65115484A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115484A>C Locations: - p.Thr210Pro (Ensembl:ENST00000526809) - c.628A>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1565325260 | 210 | T>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.485) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.65115484A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115484A>T Locations: - p.Thr210Ser (Ensembl:ENST00000526809) - c.628A>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1468623549 | 211 | I>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.145) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.65115487A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115487A>C Locations: - p.Ile211Leu (Ensembl:ENST00000526809) - c.631A>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1227563983 | 212 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.914) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65115491C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115491C>G Locations: - p.Ser212Cys (Ensembl:ENST00000526809) - c.635C>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs375652399 | 213 | T>A | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65115493A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115493A>G Locations: - p.Thr213Ala (Ensembl:ENST00000526809) - c.637A>G (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs770656879 | 213 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65115494C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115494C>T Locations: - p.Thr213Ile (Ensembl:ENST00000526809) - c.638C>T (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs770656879 | 213 | T>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65115494C>A Codon: ACA/AAA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115494C>A Locations: - p.Thr213Lys (Ensembl:ENST00000526809) - c.638C>A (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs375652399 | 213 | T>P | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65115493A>C Codon: ACA/CCA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115493A>C Locations: - p.Thr213Pro (Ensembl:ENST00000526809) - c.637A>C (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1487598083 | 214 | A>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.129) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000011.10:g.65115496G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115496G>T Locations: - p.Ala214Ser (Ensembl:ENST00000526809) - c.640G>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs368243602 | 215 | T>A | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.358) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.65115499A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115499A>G Locations: - p.Thr215Ala (Ensembl:ENST00000526809) - c.643A>G (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs760012550 | 215 | T>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.585) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65115500C>A Codon: ACA/AAA Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115500C>A Locations: - p.Thr215Lys (Ensembl:ENST00000526809) - c.644C>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs1332211373 COSV54207081 | 216 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed gnomAD NCI-TCGA Cosmic cosmic curated dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000011.10:g.65115502G>C, NC_000011.10:g.65115502G>A Codon: GGG/CGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115502G>C, NC_000011.10:g.65115502G>A Locations: - p.Gly216Arg (Ensembl:ENST00000526809) - c.646G>C (Ensembl:ENST00000526809) - p.G216R (NCI-TCGA:ENST00000526809) - c.646G>A (Ensembl:ENST00000526809) Source type: large scale study | |||||||
rs1947967462 | 216 | G>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65115503G>T Codon: GGG/GTG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115503G>T Locations: - p.Gly216Val (Ensembl:ENST00000526809) - c.647G>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
COSV107233543 rs551444950 | 217 | R>Q | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000011.10:g.65115506G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115506G>A Locations: - p.Arg217Gln (Ensembl:ENST00000526809) - c.650G>A (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
rs553025048 | 217 | R>W | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.65115505C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115505C>T Locations: - p.Arg217Trp (Ensembl:ENST00000526809) - c.649C>T (Ensembl:ENST00000526809) Source type: large scale study Cross-references: | |||||||
VAR_012716 rs1129195 | 299 | T>I | UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000011.10:g.65115317C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 11q13.1 Genomic location: NC_000011.10:g.65115317C>T Locations: - p.Thr299Ile (UniProt:O76062) - p.Thr181Ile (Ensembl:ENST00000526809) - c.542C>T (Ensembl:ENST00000526809) Source type: mixed Cross-references: |