Q5T215 · TPC3L_HUMAN
- ProteinTrafficking protein particle complex subunit 3-like protein
- GeneTRAPPC3L
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids181 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1157989535 | 3 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.441) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.116545508G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116545508G>A Locations: - p.Arg3Cys (Ensembl:ENST00000368602) - c.7C>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs368624449 | 3 | R>H | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.223) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.116545507C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116545507C>T Locations: - p.Arg3His (Ensembl:ENST00000368602) - c.8G>A (Ensembl:ENST00000368602) Source type: large scale study | |||||||
rs368624449 | 3 | R>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116545507C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116545507C>A Locations: - p.Arg3Leu (Ensembl:ENST00000368602) - c.8G>T (Ensembl:ENST00000368602) Source type: large scale study | |||||||
rs922934208 | 4 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000006.12:g.116545505G>C Codon: CCT/GCT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116545505G>C Locations: - p.Pro4Ala (Ensembl:ENST00000368602) - c.10C>G (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs115748025 | 5 | A>T | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000006.12:g.116545502C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116545502C>T Locations: - p.Ala5Thr (Ensembl:ENST00000368602) - c.13G>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1773726431 | 6 | H>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000006.12:g.116545498T>C Codon: CAC/CGC Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116545498T>C Locations: - p.His6Arg (Ensembl:ENST00000368602) - c.17A>G (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs914356569 | 7 | R>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.116545496G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116545496G>A Locations: - p.Arg7Ter (Ensembl:ENST00000368602) - c.19C>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs186298269 | 7 | R>Q | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000006.12:g.116545495C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116545495C>T Locations: - p.Arg7Gln (Ensembl:ENST00000368602) - c.20G>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1396279118 | 8 | R>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000006.12:g.116545493T>C Codon: AGA/GGA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116545493T>C Locations: - p.Arg8Gly (Ensembl:ENST00000368602) - c.22A>G (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1773725536 | 8 | R>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.076) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000006.12:g.116545492C>G Codon: AGA/ACA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116545492C>G Locations: - p.Arg8Thr (Ensembl:ENST00000368602) - c.23G>C (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
TCGA novel | 11 | Y>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000006.12:g.116545484A>G Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116545484A>G Locations: - c.31T>C (NCI-TCGA:ENST00000368602) - p.Y11H (NCI-TCGA:ENST00000368602) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1309262070 | 12 | H>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000006.12:g.116545480T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116545480T>C Locations: - p.His12Arg (Ensembl:ENST00000368602) - c.35A>G (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs555972866 | 13 | K>* | 1000Genomes ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.116545478T>A Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116545478T>A Locations: - p.Lys13Ter (Ensembl:ENST00000368602) - c.37A>T (Ensembl:ENST00000368602) Source type: large scale study | |||||||
rs1355419594 | 14 | I>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000006.12:g.116545474A>T Codon: ATA/AAA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116545474A>T Locations: - p.Ile14Lys (Ensembl:ENST00000368602) - c.41T>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1355419594 | 14 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.525) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116545474A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116545474A>G Locations: - p.Ile14Thr (Ensembl:ENST00000368602) - c.41T>C (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1163936709 | 15 | N>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.116543398A>T Codon: AAT/AAA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116543398A>T Locations: - p.Asn15Lys (Ensembl:ENST00000368602) - c.45T>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs528672084 | 17 | D>G | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.149) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116543393T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116543393T>C Locations: - p.Asp17Gly (Ensembl:ENST00000368602) - c.50A>G (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs373855578 | 18 | L>F | 1000Genomes ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.116543391G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116543391G>A Locations: - p.Leu18Phe (Ensembl:ENST00000368602) - c.52C>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1773580398 | 20 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.171) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000006.12:g.116543384A>G Codon: GTC/GCC Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116543384A>G Locations: - p.Val20Ala (Ensembl:ENST00000368602) - c.59T>C (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs370753605 | 21 | L>P | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.116543381A>G Codon: CTT/CCT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116543381A>G Locations: - p.Leu21Pro (Ensembl:ENST00000368602) - c.62T>C (Ensembl:ENST00000368602) Source type: large scale study | |||||||
rs376078879 | 23 | Y>C | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116543375T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116543375T>C Locations: - p.Tyr23Cys (Ensembl:ENST00000368602) - c.68A>G (Ensembl:ENST00000368602) Source type: large scale study | |||||||
rs758565526 | 25 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000006.12:g.116543370C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116543370C>A Locations: - p.Ala25Ser (Ensembl:ENST00000368602) - c.73G>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1278652890 | 25 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000006.12:g.116543369G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116543369G>A Locations: - p.Ala25Val (Ensembl:ENST00000368602) - c.74C>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1303444215 | 28 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000006.12:g.116543360G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116543360G>A Locations: - p.Ala28Val (Ensembl:ENST00000368602) - c.83C>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1234849318 | 29 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.116543358G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116543358G>A Locations: - p.Gln29Ter (Ensembl:ENST00000368602) - c.85C>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1234849318 | 29 | Q>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.287) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116543358G>T Codon: CAG/AAG Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116543358G>T Locations: - p.Gln29Lys (Ensembl:ENST00000368602) - c.85C>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs749109693 | 31 | C>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116543352A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116543352A>G Locations: - p.Cys31Arg (Ensembl:ENST00000368602) - c.91T>C (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1391745393 | 32 | K>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000006.12:g.116543349T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116543349T>C Locations: - p.Lys32Glu (Ensembl:ENST00000368602) - c.94A>G (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
TCGA novel | 32 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.54) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000006.12:g.116543347C>A Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116543347C>A Locations: - c.96G>T (NCI-TCGA:ENST00000368602) - p.K32N (NCI-TCGA:ENST00000368602) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2115248633 | 35 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116543339T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116543339T>C Locations: - p.Glu35Gly (Ensembl:ENST00000368602) - c.104A>G (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1310846700 | 35 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.116543340C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116543340C>T Locations: - p.Glu35Lys (Ensembl:ENST00000368602) - c.103G>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1310846700 | 35 | E>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.116543340C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116543340C>G Locations: - p.Glu35Gln (Ensembl:ENST00000368602) - c.103G>C (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1395945046 | 39 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.874) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116543328C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116543328C>T Locations: - p.Asp39Asn (Ensembl:ENST00000368602) - c.115G>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1773577042 | 39 | D>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116543327T>A Codon: GAT/GTT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116543327T>A Locations: - p.Asp39Val (Ensembl:ENST00000368602) - c.116A>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1395945046 | 39 | D>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116543328C>A Codon: GAT/TAT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116543328C>A Locations: - p.Asp39Tyr (Ensembl:ENST00000368602) - c.115G>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1468702724 | 42 | Q>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000006.12:g.116543319G>T Codon: CAA/AAA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116543319G>T Locations: - p.Gln42Lys (Ensembl:ENST00000368602) - c.124C>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1773576307 | 44 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116543311T>G Codon: TTA/TTC Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116543311T>G Locations: - p.Leu44Phe (Ensembl:ENST00000368602) - c.132A>C (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1363715946 | 45 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000006.12:g.116543308A>T Codon: GAT/GAA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116543308A>T Locations: - p.Asp45Glu (Ensembl:ENST00000368602) - c.135T>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs955228104 | 47 | M>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.912) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000006.12:g.116540462C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540462C>T Locations: - p.Met47Ile (Ensembl:ENST00000368602) - c.141G>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs972699144 | 47 | M>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116543303A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116543303A>G Locations: - p.Met47Thr (Ensembl:ENST00000368602) - c.140T>C (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1376258152 | 48 | G>D | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116540460C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540460C>T Locations: - p.Gly48Asp (Ensembl:ENST00000368602) - c.143G>A (Ensembl:ENST00000368602) Source type: large scale study | |||||||
rs1336471306 | 49 | Y>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.116540456G>T Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540456G>T Locations: - p.Tyr49Ter (Ensembl:ENST00000368602) - c.147C>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1773374032 | 49 | Y>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116540457T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540457T>C Locations: - p.Tyr49Cys (Ensembl:ENST00000368602) - c.146A>G (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1773374302 | 49 | Y>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.505) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000006.12:g.116540458A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540458A>G Locations: - p.Tyr49His (Ensembl:ENST00000368602) - c.145T>C (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1384262858 | 50 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.116540454C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540454C>T Locations: - p.Gly50Asp (Ensembl:ENST00000368602) - c.149G>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs751059408 | 50 | G>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.06) - PolyPhen: benign (0.007) - SIFT: tolerated (0.11) Somatic: No Population frequencies: - MAF: 0.000006417 (gnomAD) Accession: NC_000006.12:g.116540455C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540455C>T Locations: - p.G50S (NCI-TCGA:ENST00000368602) - p.Gly50Ser (Ensembl:ENST00000368602) - c.148G>A (Ensembl:ENST00000368602) Source type: large scale study | |||||||
rs1052778537 | 52 | G>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116540448C>G Codon: GGA/GCA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540448C>G Locations: - p.Gly52Ala (Ensembl:ENST00000368602) - c.155G>C (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1052778537 | 52 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116540448C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540448C>T Locations: - p.Gly52Glu (Ensembl:ENST00000368602) - c.155G>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs766153099 | 52 | G>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116540449C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540449C>T Locations: - p.Gly52Arg (Ensembl:ENST00000368602) - c.154G>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1416406707 | 53 | T>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.169) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116540445G>T Codon: ACG/AAG Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540445G>T Locations: - p.Thr53Lys (Ensembl:ENST00000368602) - c.158C>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1416406707 | 53 | T>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.253) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000006.12:g.116540445G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540445G>A Locations: - p.Thr53Met (Ensembl:ENST00000368602) - c.158C>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1257767421 | 54 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116540442C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540442C>T Locations: - p.Arg54Gln (Ensembl:ENST00000368602) - c.161G>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs115220854 | 54 | R>W | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116540443G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540443G>A Locations: - p.Arg54Trp (Ensembl:ENST00000368602) - c.160C>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1773370197 | 56 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.419) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116540437C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540437C>T Locations: - p.Val56Met (Ensembl:ENST00000368602) - c.166G>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1444925087 | 57 | E>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.742) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116540433T>G Codon: GAA/GCA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540433T>G Locations: - p.Glu57Ala (Ensembl:ENST00000368602) - c.170A>C (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs866454358 | 57 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.273) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116540434C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540434C>T Locations: - p.Glu57Lys (Ensembl:ENST00000368602) - c.169G>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1583295142 | 58 | D>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000006.12:g.116540429G>T Codon: GAC/GAA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540429G>T Locations: - p.Asp58Glu (Ensembl:ENST00000368602) - c.174C>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1583295147 | 58 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000006.12:g.116540430T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540430T>C Locations: - p.Asp58Gly (Ensembl:ENST00000368602) - c.173A>G (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs200510309 | 59 | F>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.116540428A>G Codon: TTT/CTT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540428A>G Locations: - p.Phe59Leu (Ensembl:ENST00000368602) - c.175T>C (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1348588930 | 59 | F>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000006.12:g.116540427A>G Codon: TTT/TCT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540427A>G Locations: - p.Phe59Ser (Ensembl:ENST00000368602) - c.176T>C (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1583295121 | 60 | L>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.116540424A>T Codon: TTG/TAG Consequence type: stop gained Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540424A>T Locations: - p.Leu60Ter (Ensembl:ENST00000368602) - c.179T>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs765754172 | 62 | R>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.116540419G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540419G>A Locations: - p.Arg62Ter (Ensembl:ENST00000368602) - c.184C>T (Ensembl:ENST00000368602) Source type: large scale study | |||||||
rs968091763 | 62 | R>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.632) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116540418C>A Codon: CGA/CTA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540418C>A Locations: - p.Arg62Leu (Ensembl:ENST00000368602) - c.185G>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs968091763 | 62 | R>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.257) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.116540418C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540418C>T Locations: - p.Arg62Gln (Ensembl:ENST00000368602) - c.185G>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs762233471 | 63 | S>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.847) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116540415G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540415G>A Locations: - p.Ser63Phe (Ensembl:ENST00000368602) - c.188C>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1583295085 | 65 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000006.12:g.116540410C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540410C>A Locations: - p.Val65Leu (Ensembl:ENST00000368602) - c.193G>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1583295085 | 65 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.519) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000006.12:g.116540410C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540410C>T Locations: - p.Val65Met (Ensembl:ENST00000368602) - c.193G>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1226426296 | 68 | C>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.116540399G>T Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540399G>T Locations: - p.Cys68Ter (Ensembl:ENST00000368602) - c.204C>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1373696630 | 68 | C>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116540401A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540401A>G Locations: - p.Cys68Arg (Ensembl:ENST00000368602) - c.202T>C (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1226426296 | 68 | C>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116540399G>C Codon: TGC/TGG Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540399G>C Locations: - p.Cys68Trp (Ensembl:ENST00000368602) - c.204C>G (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1297074816 | 69 | H>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.149) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000006.12:g.116540398G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540398G>A Locations: - p.His69Tyr (Ensembl:ENST00000368602) - c.205C>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1009673946 | 70 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116540395T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540395T>C Locations: - p.Ser70Gly (Ensembl:ENST00000368602) - c.208A>G (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs2115235429 | 70 | S>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000006.12:g.116540394C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540394C>T Locations: - p.Ser70Asn (Ensembl:ENST00000368602) - c.209G>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1009673946 | 70 | S>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.257) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116540395T>G Codon: AGT/CGT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540395T>G Locations: - p.Ser70Arg (Ensembl:ENST00000368602) - c.208A>C (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1773364618 | 71 | Y>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.116540390A>T Codon: TAT/TAA Consequence type: stop gained Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540390A>T Locations: - p.Tyr71Ter (Ensembl:ENST00000368602) - c.213T>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1355792447 | 73 | E>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.116540386C>A Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540386C>A Locations: - p.Glu73Ter (Ensembl:ENST00000368602) - c.217G>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
COSV63987386 | 73 | E>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000006.12:g.116540385T>A Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540385T>A Locations: - c.218A>T (NCI-TCGA:ENST00000368602) - p.E73V (NCI-TCGA:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs534377105 | 75 | I>T | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000006.12:g.116540379A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540379A>G Locations: - p.Ile75Thr (Ensembl:ENST00000368602) - c.224T>C (Ensembl:ENST00000368602) Source type: large scale study | |||||||
rs1285738828 | 75 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000006.12:g.116540380T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540380T>C Locations: - p.Ile75Val (Ensembl:ENST00000368602) - c.223A>G (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs747079359 | 76 | D>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000006.12:g.116540377C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540377C>G Locations: - p.Asp76His (Ensembl:ENST00000368602) - c.226G>C (Ensembl:ENST00000368602) Source type: large scale study | |||||||
rs1319045310 | 76 | D>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.132) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116540376T>A Codon: GAC/GTC Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540376T>A Locations: - p.Asp76Val (Ensembl:ENST00000368602) - c.227A>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1773362836 | 77 | I>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000006.12:g.116540374T>A Codon: ATA/TTA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540374T>A Locations: - p.Ile77Leu (Ensembl:ENST00000368602) - c.229A>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1458926115 | 77 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.088) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000006.12:g.116540373A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540373A>G Locations: - p.Ile77Thr (Ensembl:ENST00000368602) - c.230T>C (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1222867861 | 79 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000006.12:g.116540367G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540367G>A Locations: - p.Ala79Val (Ensembl:ENST00000368602) - c.236C>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1392919256 | 80 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.116540365G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116540365G>A Locations: - p.Gln80Ter (Ensembl:ENST00000368602) - c.238C>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1562335677 | 82 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116500662G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500662G>A Locations: - p.Ala82Val (Ensembl:ENST00000368602) - c.245C>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs751092748 | 84 | K>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000006.12:g.116500656T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500656T>C Locations: - p.Lys84Arg (Ensembl:ENST00000368602) - c.251A>G (Ensembl:ENST00000368602) Source type: large scale study | |||||||
rs751092748 | 84 | K>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116500656T>G Codon: AAG/ACG Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500656T>G Locations: - p.Lys84Thr (Ensembl:ENST00000368602) - c.251A>C (Ensembl:ENST00000368602) Source type: large scale study | |||||||
rs370126388 | 85 | M>I | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.43) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000006.12:g.116500652C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500652C>T Locations: - p.Met85Ile (Ensembl:ENST00000368602) - c.255G>A (Ensembl:ENST00000368602) Source type: large scale study | |||||||
rs1044304465 | 85 | M>K | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.16) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116500653A>T Codon: ATG/AAG Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500653A>T Locations: - p.Met85Lys (Ensembl:ENST00000368602) - c.254T>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1044304465 | 85 | M>T | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.816) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000006.12:g.116500653A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500653A>G Locations: - p.Met85Thr (Ensembl:ENST00000368602) - c.254T>C (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1771897196 | 86 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.116500650T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500650T>C Locations: - p.Tyr86Cys (Ensembl:ENST00000368602) - c.257A>G (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1771896965 | 90 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.116500638G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500638G>A Locations: - p.Thr90Ile (Ensembl:ENST00000368602) - c.269C>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1353125214 | 91 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116500636G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500636G>A Locations: - p.Pro91Ser (Ensembl:ENST00000368602) - c.271C>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1353125214 | 91 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116500636G>T Codon: CCA/ACA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500636G>T Locations: - p.Pro91Thr (Ensembl:ENST00000368602) - c.271C>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs964796451 | 93 | V>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.218) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116500630C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500630C>T Locations: - p.Val93Met (Ensembl:ENST00000368602) - c.277G>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1372437431 | 94 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000006.12:g.116500626G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500626G>A Locations: - p.Thr94Ile (Ensembl:ENST00000368602) - c.281C>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs375505724 | 95 | C>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000006.12:g.116500624A>C Codon: TGT/GGT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500624A>C Locations: - p.Cys95Gly (Ensembl:ENST00000368602) - c.283T>G (Ensembl:ENST00000368602) Source type: large scale study | |||||||
rs375505724 | 95 | C>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000006.12:g.116500624A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500624A>G Locations: - p.Cys95Arg (Ensembl:ENST00000368602) - c.283T>C (Ensembl:ENST00000368602) Source type: large scale study | |||||||
rs1259577042 | 96 | N>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.221) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000006.12:g.116500620T>A Codon: AAC/ATC Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500620T>A Locations: - p.Asn96Ile (Ensembl:ENST00000368602) - c.287A>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1465963144 | 96 | N>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000006.12:g.116500619G>T, NC_000006.12:g.116500619G>C Codon: AAC/AAA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500619G>T, NC_000006.12:g.116500619G>C Locations: - p.Asn96Lys (Ensembl:ENST00000368602) - c.288C>A (Ensembl:ENST00000368602) - c.288C>G (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1259577042 | 96 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000006.12:g.116500620T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500620T>C Locations: - p.Asn96Ser (Ensembl:ENST00000368602) - c.287A>G (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1190124427 | 96 | N>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: tolerated (0.7) Somatic: No Accession: NC_000006.12:g.116500621T>A Codon: AAC/TAC Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500621T>A Locations: - p.Asn96Tyr (Ensembl:ENST00000368602) - c.286A>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs758085435 | 97 | N>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.619) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116500618T>G Codon: AAT/CAT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500618T>G Locations: - p.Asn97His (Ensembl:ENST00000368602) - c.289A>C (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1227309449 | 97 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (1) Somatic: No Accession: NC_000006.12:g.116500617T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500617T>C Locations: - p.Asn97Ser (Ensembl:ENST00000368602) - c.290A>G (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs758085435 | 97 | N>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.706) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116500618T>A Codon: AAT/TAT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500618T>A Locations: - p.Asn97Tyr (Ensembl:ENST00000368602) - c.289A>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs990714981 | 99 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.194) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000006.12:g.116500611C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500611C>T Locations: - p.Ser99Asn (Ensembl:ENST00000368602) - c.296G>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs956272155 | 102 | E>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.116500602T>G Codon: GAA/GCA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500602T>G Locations: - p.Glu102Ala (Ensembl:ENST00000368602) - c.305A>C (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
TCGA novel | 103 | F>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000006.12:g.116500599A>C Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500599A>C Locations: - c.308T>G (NCI-TCGA:ENST00000368602) - p.F103C (NCI-TCGA:ENST00000368602) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 103 | F>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116500600A>C Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500600A>C Locations: - c.307T>G (NCI-TCGA:ENST00000368602) - p.F103V (NCI-TCGA:ENST00000368602) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1039313924 | 109 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.629) - SIFT: tolerated (0.63) Somatic: No Accession: NC_000006.12:g.116500580C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500580C>A Locations: - p.Lys109Asn (Ensembl:ENST00000368602) - c.327G>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
TCGA novel | 109 | K>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.516) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000006.12:g.116500581T>C Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500581T>C Locations: - c.326A>G (NCI-TCGA:ENST00000368602) - p.K109R (NCI-TCGA:ENST00000368602) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs765689304 | 111 | P>L | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116500575G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500575G>A Locations: - p.Pro111Leu (Ensembl:ENST00000368602) - c.332C>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1483191360 | 111 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116500576G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500576G>T Locations: - p.Pro111Thr (Ensembl:ENST00000368602) - c.331C>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
COSV62068824 rs1031888173 | 112 | L>M | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000006.12:g.116500573G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500573G>T Locations: - p.Leu112Met (Ensembl:ENST00000368602) - c.334C>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1401025314 | 113 | V>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.64) Somatic: No Accession: NC_000006.12:g.116500569A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500569A>G Locations: - p.Val113Ala (Ensembl:ENST00000368602) - c.338T>C (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1401025314 | 113 | V>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.102) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000006.12:g.116500569A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500569A>T Locations: - p.Val113Glu (Ensembl:ENST00000368602) - c.338T>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs187329863 | 114 | E>G | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.136) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000006.12:g.116500566T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500566T>C Locations: - p.Glu114Gly (Ensembl:ENST00000368602) - c.341A>G (Ensembl:ENST00000368602) Source type: large scale study | |||||||
rs1256575357 | 116 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.116500561C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500561C>A Locations: - p.Val116Leu (Ensembl:ENST00000368602) - c.346G>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1225282212 | 117 | E>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.116500558C>A Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500558C>A Locations: - p.Glu117Ter (Ensembl:ENST00000368602) - c.349G>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1225282212 | 117 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116500558C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500558C>T Locations: - p.Glu117Lys (Ensembl:ENST00000368602) - c.349G>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
COSV105259857 TCGA novel | 118 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated (0.1) Somatic: Yes Accession: NC_000006.12:g.116500555C>T Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500555C>T Locations: - c.352G>A (NCI-TCGA:ENST00000368602) - p.E118K (NCI-TCGA:ENST00000368602) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1287519179 | 120 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116500548G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500548G>A Locations: - p.Pro120Leu (Ensembl:ENST00000368602) - c.359C>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1391941317 | 120 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116500549G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500549G>A Locations: - p.Pro120Ser (Ensembl:ENST00000368602) - c.358C>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs142395441 | 121 | A>T | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.309) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000006.12:g.116500546C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500546C>T Locations: - p.Ala121Thr (Ensembl:ENST00000368602) - c.361G>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
COSV62067768 rs760762201 | 123 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.00001925 (gnomAD) Accession: NC_000006.12:g.116500540G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500540G>A Locations: - p.R123* (NCI-TCGA:ENST00000368602) - p.Arg123Ter (Ensembl:ENST00000368602) - c.367C>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs368049149 | 123 | R>L | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000006.12:g.116500539C>A Codon: CGA/CTA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500539C>A Locations: - p.Arg123Leu (Ensembl:ENST00000368602) - c.368G>T (Ensembl:ENST00000368602) Source type: large scale study | |||||||
rs368049149 | 123 | R>P | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.941) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000006.12:g.116500539C>G Codon: CGA/CCA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500539C>G Locations: - p.Arg123Pro (Ensembl:ENST00000368602) - c.368G>C (Ensembl:ENST00000368602) Source type: large scale study | |||||||
rs368049149 | 123 | R>Q | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.914) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000006.12:g.116500539C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500539C>T Locations: - p.Arg123Gln (Ensembl:ENST00000368602) - c.368G>A (Ensembl:ENST00000368602) Source type: large scale study | |||||||
rs898564008 | 125 | S>F | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.294) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.116500533G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500533G>A Locations: - p.Ser125Phe (Ensembl:ENST00000368602) - c.374C>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1174771663 | 129 | C>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (1) Somatic: No Accession: NC_000006.12:g.116500521C>G Codon: TGC/TCC Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500521C>G Locations: - p.Cys129Ser (Ensembl:ENST00000368602) - c.386G>C (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1771894561 | 130 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000006.12:g.116500518T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500518T>C Locations: - p.Asn130Ser (Ensembl:ENST00000368602) - c.389A>G (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1411638212 | 132 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.09) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000006.12:g.116500513G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500513G>A Locations: - p.Leu132Phe (Ensembl:ENST00000368602) - c.394C>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1160435846 | 133 | C>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.448) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000006.12:g.116500509C>G Codon: TGT/TCT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500509C>G Locations: - p.Cys133Ser (Ensembl:ENST00000368602) - c.398G>C (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1160435846 | 133 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.919) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116500509C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500509C>T Locations: - p.Cys133Tyr (Ensembl:ENST00000368602) - c.398G>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
COSV62067824 rs1472695921 | 134 | G>E | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000006.12:g.116500506C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500506C>T Locations: - p.Gly134Glu (Ensembl:ENST00000368602) - c.401G>A (Ensembl:ENST00000368602) Source type: large scale study | |||||||
rs772283149 | 135 | I>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116500503A>C Codon: ATT/AGT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500503A>C Locations: - p.Ile135Ser (Ensembl:ENST00000368602) - c.404T>G (Ensembl:ENST00000368602) Source type: large scale study | |||||||
rs1184760100 | 135 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000006.12:g.116500504T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500504T>C Locations: - p.Ile135Val (Ensembl:ENST00000368602) - c.403A>G (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1204304978 | 137 | R>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116500497C>G Codon: AGA/ACA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500497C>G Locations: - p.Arg137Thr (Ensembl:ENST00000368602) - c.410G>C (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs199864813 | 140 | L>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116500488A>G Codon: TTG/TCG Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500488A>G Locations: - p.Leu140Ser (Ensembl:ENST00000368602) - c.419T>C (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
TCGA novel | 142 | M>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.944) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116500483T>C Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116500483T>C Locations: - c.424A>G (NCI-TCGA:ENST00000368602) - p.M142V (NCI-TCGA:ENST00000368602) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs535532375 | 143 | V>I | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000006.12:g.116497073C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116497073C>T Locations: - p.Val143Ile (Ensembl:ENST00000368602) - c.427G>A (Ensembl:ENST00000368602) Source type: large scale study | |||||||
rs1377553428 | 144 | H>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.914) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116497069T>G Codon: CAT/CCT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116497069T>G Locations: - p.His144Pro (Ensembl:ENST00000368602) - c.431A>C (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs568107027 | 146 | A>V | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000006.12:g.116497063G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116497063G>A Locations: - p.Ala146Val (Ensembl:ENST00000368602) - c.437C>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1421760587 | 151 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.609) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000006.12:g.116497049A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116497049A>G Locations: - p.Phe151Leu (Ensembl:ENST00000368602) - c.451T>C (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1317211652 | 153 | Q>K | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.438) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000006.12:g.116497043G>T Codon: CAA/AAA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116497043G>T Locations: - p.Gln153Lys (Ensembl:ENST00000368602) - c.457C>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1771843212 | 153 | Q>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116497042T>G Codon: CAA/CCA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116497042T>G Locations: - p.Gln153Pro (Ensembl:ENST00000368602) - c.458A>C (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1562334685 | 155 | R>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.247) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000006.12:g.116497036C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116497036C>T Locations: - p.Arg155Lys (Ensembl:ENST00000368602) - c.464G>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs745600530 | 158 | G>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116497028C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116497028C>T Locations: - p.Gly158Ser (Ensembl:ENST00000368602) - c.472G>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs374940815 | 160 | S>G | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000006.12:g.116497022T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116497022T>C Locations: - p.Ser160Gly (Ensembl:ENST00000368602) - c.478A>G (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs2115150556 | 160 | S>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.71) Somatic: No Accession: NC_000006.12:g.116497021C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116497021C>T Locations: - p.Ser160Asn (Ensembl:ENST00000368602) - c.479G>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1771842940 | 160 | S>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000006.12:g.116497020A>T Codon: AGT/AGA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116497020A>T Locations: - p.Ser160Arg (Ensembl:ENST00000368602) - c.480T>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs374940815 | 160 | S>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000006.12:g.116497022T>G Codon: AGT/CGT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116497022T>G Locations: - p.Ser160Arg (Ensembl:ENST00000368602) - c.478A>C (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1771842907 | 161 | V>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.116497019C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116497019C>T Locations: - p.Val161Met (Ensembl:ENST00000368602) - c.481G>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1771842825 | 162 | T>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116497015G>T Codon: ACA/AAA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116497015G>T Locations: - p.Thr162Lys (Ensembl:ENST00000368602) - c.485C>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
TCGA novel | 164 | I>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000006.12:g.116497010T>G Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116497010T>G Locations: - c.490A>C (NCI-TCGA:ENST00000368602) - p.I164L (NCI-TCGA:ENST00000368602) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV62067916 rs1004645548 | 165 | G>E | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000006.12:g.116497006C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116497006C>T Locations: - p.Gly165Glu (Ensembl:ENST00000368602) - c.494G>A (Ensembl:ENST00000368602) Source type: large scale study | |||||||
rs1015614770 | 165 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.384) - SIFT: tolerated (1) Somatic: No Accession: NC_000006.12:g.116497007C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116497007C>T Locations: - p.Gly165Arg (Ensembl:ENST00000368602) - c.493G>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1048991751 | 166 | I>K | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116497003A>T Codon: ATA/AAA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116497003A>T Locations: - p.Ile166Lys (Ensembl:ENST00000368602) - c.497T>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1048991751 | 166 | I>R | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116497003A>C Codon: ATA/AGA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116497003A>C Locations: - p.Ile166Arg (Ensembl:ENST00000368602) - c.497T>G (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs757685700 | 166 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: tolerated (0.95) Somatic: No Accession: NC_000006.12:g.116497004T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116497004T>C Locations: - p.Ile166Val (Ensembl:ENST00000368602) - c.496A>G (Ensembl:ENST00000368602) Source type: large scale study | |||||||
COSV62067676 | 169 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.081) - SIFT: tolerated (0.95) Somatic: Yes Accession: NC_000006.12:g.116496995G>T Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116496995G>T Locations: - c.505C>A (NCI-TCGA:ENST00000368602) - p.L169I (NCI-TCGA:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1323331346 | 169 | L>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.884) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.116496994A>C Codon: CTA/CGA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116496994A>C Locations: - p.Leu169Arg (Ensembl:ENST00000368602) - c.506T>G (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1404367221 | 171 | K>E | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000006.12:g.116496989T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116496989T>C Locations: - p.Lys171Glu (Ensembl:ENST00000368602) - c.511A>G (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1365856920 | 171 | K>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000006.12:g.116496988T>A Codon: AAG/ATG Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116496988T>A Locations: - p.Lys171Met (Ensembl:ENST00000368602) - c.512A>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
TCGA novel | 171 | K>S | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000006.12:g.116496988del Consequence type: frameshift Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116496988del Locations: - c.512del (NCI-TCGA:ENST00000368602) - p.K171Sfs*14 (NCI-TCGA:ENST00000368602) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV62068379 rs749533621 | 172 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.000201 (gnomAD) Accession: NC_000006.12:g.116496986G>A Codon: CGA/TGA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116496986G>A Locations: - p.R172* (NCI-TCGA:ENST00000368602) - p.Arg172Ter (Ensembl:ENST00000368602) - c.514C>T (Ensembl:ENST00000368602) Source type: large scale study | |||||||
COSV105826719 rs780213422 | 172 | R>Q | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000006.12:g.116496985C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116496985C>T Locations: - p.Arg172Gln (Ensembl:ENST00000368602) - c.515G>A (Ensembl:ENST00000368602) Source type: large scale study | |||||||
rs564420451 | 173 | D>E | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000006.12:g.116496981G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116496981G>C Locations: - p.Asp173Glu (Ensembl:ENST00000368602) - c.519C>G (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
TCGA novel | 174 | E>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000006.12:g.116496979T>C Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116496979T>C Locations: - c.521A>G (NCI-TCGA:ENST00000368602) - p.E174G (NCI-TCGA:ENST00000368602) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV62067876 rs1044258281 | 174 | E>K | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000006.12:g.116496980C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116496980C>T Locations: - p.Glu174Lys (Ensembl:ENST00000368602) - c.520G>A (Ensembl:ENST00000368602) Source type: large scale study | |||||||
rs1583262809 | 175 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000006.12:g.116496977T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116496977T>C Locations: - p.Lys175Glu (Ensembl:ENST00000368602) - c.523A>G (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1771841759 | 176 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000006.12:g.116496974T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116496974T>C Locations: - p.Lys176Glu (Ensembl:ENST00000368602) - c.526A>G (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1771841623 | 177 | Y>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000006.12:g.116496970T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116496970T>C Locations: - p.Tyr177Cys (Ensembl:ENST00000368602) - c.530A>G (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1476369818 | 177 | Y>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000006.12:g.116496971A>T Codon: TAT/AAT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116496971A>T Locations: - p.Tyr177Asn (Ensembl:ENST00000368602) - c.529T>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs367619378 | 179 | G>A | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000006.12:g.116496964C>G Codon: GGG/GCG Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116496964C>G Locations: - p.Gly179Ala (Ensembl:ENST00000368602) - c.536G>C (Ensembl:ENST00000368602) Source type: large scale study | |||||||
rs199732981 | 179 | G>R | Likely benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000006.12:g.116496965C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116496965C>T Locations: - p.Gly179Arg (Ensembl:ENST00000368602) - c.535G>A (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1294294292 | 180 | K>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.116496962T>A Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116496962T>A Locations: - p.Lys180Ter (Ensembl:ENST00000368602) - c.538A>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1341461125 | 180 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000006.12:g.116496960T>A Codon: AAA/AAT Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116496960T>A Locations: - p.Lys180Asn (Ensembl:ENST00000368602) - c.540A>T (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs916875407 | 180 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000006.12:g.116496961T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116496961T>C Locations: - p.Lys180Arg (Ensembl:ENST00000368602) - c.539A>G (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1162682585 | 181 | K>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000006.12:g.116496958T>G Codon: AAA/ACA Consequence type: missense Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116496958T>G Locations: - p.Lys181Thr (Ensembl:ENST00000368602) - c.542A>C (Ensembl:ENST00000368602) Source type: large scale study Cross-references: | |||||||
rs1275477396 | 182 | *>C | gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000006.12:g.116496954T>G Codon: TGA/TGC Consequence type: stop lost Cytogenetic band: 6q22.1 Genomic location: NC_000006.12:g.116496954T>G Locations: - p.Ter182CysextTer11 (Ensembl:ENST00000368602) - c.546A>C (Ensembl:ENST00000368602) Source type: large scale study Cross-references: |