J3QT58 · J3QT58_HUMAN
- ProteinCarboxypeptidase A2
- GeneCPA2
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids182 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs747761880 | 2 | R>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000007.14:g.130266892G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130266892G>A Locations: - p.Arg2Lys (Ensembl:ENST00000416698) - c.5G>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs771847044 | 3 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000007.14:g.130266894T>G Codon: TTG/GTG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130266894T>G Locations: - p.Leu3Val (Ensembl:ENST00000416698) - c.7T>G (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs1465554068 | 4 | I>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.130266897A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130266897A>T Locations: - p.Ile4Phe (Ensembl:ENST00000416698) - c.10A>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1793216299 | 5 | L>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.253) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.130266901T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130266901T>C Locations: - p.Leu5Pro (Ensembl:ENST00000416698) - c.14T>C (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1793216369 | 6 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000007.14:g.130266905T>G Codon: TTT/TTG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130266905T>G Locations: - p.Phe6Leu (Ensembl:ENST00000416698) - c.18T>G (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1793216440 | 9 | A>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.842) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.130266913C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130266913C>A Locations: - p.Ala9Asp (Ensembl:ENST00000416698) - c.26C>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1793216440 | 9 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000007.14:g.130266913C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130266913C>T Locations: - p.Ala9Val (Ensembl:ENST00000416698) - c.26C>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1793216522 | 10 | L>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.915) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130266916T>A Codon: CTT/CAT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130266916T>A Locations: - p.Leu10His (Ensembl:ENST00000416698) - c.29T>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs944868449 | 11 | F>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000007.14:g.130266919T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130266919T>C Locations: - p.Phe11Ser (Ensembl:ENST00000416698) - c.32T>C (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1480806452 | 11 | F>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000007.14:g.130266918T>G Codon: TTT/GTT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130266918T>G Locations: - p.Phe11Val (Ensembl:ENST00000416698) - c.31T>G (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs200908002 | 13 | H>P | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000007.14:g.130266925A>C Codon: CAT/CCT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130266925A>C Locations: - p.His13Pro (Ensembl:ENST00000416698) - c.38A>C (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs200908002 | 13 | H>R | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.067) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000007.14:g.130266925A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130266925A>G Locations: - p.His13Arg (Ensembl:ENST00000416698) - c.38A>G (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs1159325693 | 13 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000007.14:g.130266924C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130266924C>T Locations: - p.His13Tyr (Ensembl:ENST00000416698) - c.37C>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1417572179 | 15 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000007.14:g.130266931A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130266931A>G Locations: - p.Tyr15Cys (Ensembl:ENST00000416698) - c.44A>G (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1359688227 | 15 | Y>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000007.14:g.130266930T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130266930T>C Locations: - p.Tyr15His (Ensembl:ENST00000416698) - c.43T>C (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs371437222 | 16 | C>Y | ESP | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.244) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130266934G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130266934G>A Locations: - p.Cys16Tyr (Ensembl:ENST00000416698) - c.47G>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1366191898 | 18 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.130266940A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130266940A>G Locations: - p.Glu18Gly (Ensembl:ENST00000416698) - c.53A>G (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs759471435 | 20 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.809) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130266945T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130266945T>C Locations: - p.Phe20Leu (Ensembl:ENST00000416698) - c.58T>C (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs764943311 | 22 | G>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.926) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130266952G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130266952G>A Locations: - p.Gly22Glu (Ensembl:ENST00000416698) - c.65G>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs376131992 | 22 | G>R | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.78) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.130266951G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130266951G>A Locations: - p.Gly22Arg (Ensembl:ENST00000416698) - c.64G>A (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs746622314 | 23 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.161) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.130268930G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130268930G>A Locations: - p.Asp23Asn (Ensembl:ENST00000416698) - c.67G>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1185626620 | 26 | L>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.356) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130268939C>A Codon: CTT/ATT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130268939C>A Locations: - p.Leu26Ile (Ensembl:ENST00000416698) - c.76C>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1793260162 | 27 | E>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.332) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130268943A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130268943A>C Locations: - p.Glu27Ala (Ensembl:ENST00000416698) - c.80A>C (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs776136719 | 28 | I>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130268946T>G Codon: ATT/AGT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130268946T>G Locations: - p.Ile28Ser (Ensembl:ENST00000416698) - c.83T>G (Ensembl:ENST00000416698) Source type: large scale study | |||||||
COSV99744138 rs776136719 | 28 | I>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00000398 (gnomAD) Accession: NC_000007.14:g.130268946T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130268946T>C Locations: - p.I28T (NCI-TCGA:ENST00000416698) - p.Ile28Thr (Ensembl:ENST00000416698) - c.83T>C (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs769753562 | 29 | V>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.509) - SIFT: tolerated (0.77) Somatic: No Accession: NC_000007.14:g.130268949T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130268949T>C Locations: - p.Val29Ala (Ensembl:ENST00000416698) - c.86T>C (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs745857648 | 29 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000007.14:g.130268948G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130268948G>A Locations: - p.Val29Ile (Ensembl:ENST00000416698) - c.85G>A (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs745857648 | 29 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000007.14:g.130268948G>T Codon: GTA/TTA Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130268948G>T Locations: - p.Val29Leu (Ensembl:ENST00000416698) - c.85G>T (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs1166725531 | 31 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.130268954A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130268954A>T Locations: - p.Ser31Cys (Ensembl:ENST00000416698) - c.91A>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1462427130 | 32 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000007.14:g.130268958A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130268958A>G Locations: - p.Asn32Ser (Ensembl:ENST00000416698) - c.95A>G (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1169409522 | 33 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.16) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.130268960G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130268960G>A Locations: - p.Glu33Lys (Ensembl:ENST00000416698) - c.97G>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs200132476 | 36 | I>T | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.802) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130268970T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130268970T>C Locations: - p.Ile36Thr (Ensembl:ENST00000416698) - c.107T>C (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs763836288 | 40 | L>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.874) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000007.14:g.130268982T>C Codon: CTA/CCA Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130268982T>C Locations: - p.Leu40Pro (Ensembl:ENST00000416698) - c.119T>C (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs1793260807 | 41 | Q>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.130268984C>T Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130268984C>T Locations: - p.Gln41Ter (Ensembl:ENST00000416698) - c.121C>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1359584163 | 43 | E>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.22) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.130268991A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130268991A>C Locations: - p.Glu43Ala (Ensembl:ENST00000416698) - c.128A>C (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1311023787 | 43 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.112) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.130268990G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130268990G>A Locations: - p.Glu43Lys (Ensembl:ENST00000416698) - c.127G>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1309846422 | 44 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.049) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000007.14:g.130268993G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130268993G>C Locations: - p.Ala44Pro (Ensembl:ENST00000416698) - c.130G>C (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1309846422 | 44 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000007.14:g.130268993G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130268993G>A Locations: - p.Ala44Thr (Ensembl:ENST00000416698) - c.130G>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1793261100 | 46 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000007.14:g.130268999G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130268999G>A Locations: - p.Glu46Lys (Ensembl:ENST00000416698) - c.136G>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1316106873 | 47 | H>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.101) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000007.14:g.130269003A>C Codon: CAT/CCT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269003A>C Locations: - p.His47Pro (Ensembl:ENST00000416698) - c.140A>C (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs756637760 | 48 | L>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130269006T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269006T>C Locations: - p.Leu48Pro (Ensembl:ENST00000416698) - c.143T>C (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs756637760 | 48 | L>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.516) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130269006T>G Codon: CTC/CGC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269006T>G Locations: - p.Leu48Arg (Ensembl:ENST00000416698) - c.143T>G (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs199695765 | 49 | Q>* | ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.130269008C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269008C>T Locations: - p.Gln49Ter (Ensembl:ENST00000416698) - c.145C>T (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs1793261335 | 49 | Q>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.086) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130269010G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269010G>C Locations: - p.Gln49His (Ensembl:ENST00000416698) - c.147G>C (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1793261295 | 49 | Q>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130269009A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269009A>C Locations: - p.Gln49Pro (Ensembl:ENST00000416698) - c.146A>C (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs2117102229 | 51 | D>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130269672G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269672G>C Locations: - p.Asp51His (Ensembl:ENST00000416698) - c.151G>C (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1481375904 | 52 | F>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.949) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000007.14:g.130269675T>G Codon: TTT/GTT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269675T>G Locations: - p.Phe52Val (Ensembl:ENST00000416698) - c.154T>G (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs145849439 | 53 | W>* | ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.130269680G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269680G>A Locations: - p.Trp53Ter (Ensembl:ENST00000416698) - c.159G>A (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs1431137600 | 55 | S>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000007.14:g.130269684T>C Codon: TCA/CCA Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269684T>C Locations: - p.Ser55Pro (Ensembl:ENST00000416698) - c.163T>C (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs369759497 | 56 | P>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.501) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.130269687C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269687C>T Locations: - p.Pro56Ser (Ensembl:ENST00000416698) - c.166C>T (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs765760227 | 57 | T>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.291) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130269690A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269690A>C Locations: - p.Thr57Pro (Ensembl:ENST00000416698) - c.169A>C (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1298125225 | 58 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000007.14:g.130269693A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269693A>G Locations: - p.Thr58Ala (Ensembl:ENST00000416698) - c.172A>G (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1344252358 | 58 | T>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.091) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000007.14:g.130269694C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269694C>A Locations: - p.Thr58Asn (Ensembl:ENST00000416698) - c.173C>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs781236288 | 59 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.081) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000007.14:g.130269697C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269697C>T Locations: - p.Pro59Leu (Ensembl:ENST00000416698) - c.176C>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs781236288 | 59 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.632) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.130269697C>G Codon: CCA/CGA Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269697C>G Locations: - p.Pro59Arg (Ensembl:ENST00000416698) - c.176C>G (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1359257908 | 60 | G>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.62) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130269699G>T Codon: GGG/TGG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269699G>T Locations: - p.Gly60Trp (Ensembl:ENST00000416698) - c.178G>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1275564346 | 61 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000007.14:g.130269704G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269704G>C Locations: - p.Glu61Asp (Ensembl:ENST00000416698) - c.183G>C (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
COSV55979195 rs1439201106 | 61 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.52) Somatic: No Population frequencies: - MAF: 0.000003977 (gnomAD) Accession: NC_000007.14:g.130269702G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269702G>A Locations: - p.E61K (NCI-TCGA:ENST00000416698) - p.Glu61Lys (Ensembl:ENST00000416698) - c.181G>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs906477690 | 62 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.130269705A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269705A>G Locations: - p.Thr62Ala (Ensembl:ENST00000416698) - c.184A>G (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1394207885 | 62 | T>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.130269706C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269706C>G Locations: - p.Thr62Arg (Ensembl:ENST00000416698) - c.185C>G (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs906477690 | 62 | T>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.130269705A>T Codon: ACA/TCA Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269705A>T Locations: - p.Thr62Ser (Ensembl:ENST00000416698) - c.184A>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1793269670 | 63 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.130269709C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269709C>T Locations: - p.Ala63Val (Ensembl:ENST00000416698) - c.188C>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs61997065 | 65 | V>F | Benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.251) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130269714G>T Codon: GTC/TTC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269714G>T Locations: - p.Val65Phe (Ensembl:ENST00000416698) - c.193G>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
RCV000965439 rs61997065 | 65 | V>I | Benign (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.3) Somatic: No Population frequencies: - MAF: 0.01378 (ClinVar) Accession: NC_000007.14:g.130269714G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269714G>A Locations: - p.Val65Ile (Ensembl:ENST00000416698) - c.193G>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs138468930 | 66 | R>* | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.130269717C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269717C>T Locations: - p.Arg66Ter (Ensembl:ENST00000416698) - c.196C>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs750002474 | 66 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.296) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000007.14:g.130269718G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269718G>A Locations: - p.Arg66Gln (Ensembl:ENST00000416698) - c.197G>A (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs755671515 | 67 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.63) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000007.14:g.130269720G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269720G>A Locations: - p.Val67Ile (Ensembl:ENST00000416698) - c.199G>A (Ensembl:ENST00000416698) Source type: large scale study | |||||||
COSV99744189 rs1055287172 | 68 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.917) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130269724C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269724C>T Locations: - p.P68L (NCI-TCGA:ENST00000416698) - p.Pro68Leu (Ensembl:ENST00000416698) - c.203C>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
COSV55981266 rs749226338 | 70 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.46) Somatic: No Population frequencies: - MAF: 0.00005964 (gnomAD) Accession: NC_000007.14:g.130269729G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269729G>A Locations: - p.V70I (NCI-TCGA:ENST00000416698) - p.Val70Ile (Ensembl:ENST00000416698) - c.208G>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs142582879 | 72 | V>I | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000007.14:g.130269735G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269735G>A Locations: - p.Val72Ile (Ensembl:ENST00000416698) - c.214G>A (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs142582879 | 72 | V>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.130269735G>C Codon: GTC/CTC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269735G>C Locations: - p.Val72Leu (Ensembl:ENST00000416698) - c.214G>C (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs1178592853 | 73 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.130269738C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269738C>T Locations: - p.Gln73Ter (Ensembl:ENST00000416698) - c.217C>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs772224235 | 75 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.105) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.130269744G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269744G>A Locations: - p.Val75Ile (Ensembl:ENST00000416698) - c.223G>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs902141666 | 76 | K>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.945) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130269748A>C Codon: AAA/ACA Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269748A>C Locations: - p.Lys76Thr (Ensembl:ENST00000416698) - c.227A>C (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1276180598 | 77 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000007.14:g.130269750G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269750G>A Locations: - p.Val77Met (Ensembl:ENST00000416698) - c.229G>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs773517758 | 78 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.130269753T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269753T>C Locations: - p.Phe78Leu (Ensembl:ENST00000416698) - c.232T>C (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs776788513 | 82 | Q>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.130269765C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269765C>T Locations: - p.Gln82Ter (Ensembl:ENST00000416698) - c.244C>T (Ensembl:ENST00000416698) Source type: large scale study | |||||||
VAR_031204 rs17850135 | 82 | E>G | UniProt Ensembl dbSNP | ||||
Consequence: missense Somatic: No Accession: NC_000007.14:g.130269760A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269760A>G Locations: - p.Glu82Gly (UniProt:P48052) - p.Glu80Gly (Ensembl:ENST00000416698) - c.239A>G (Ensembl:ENST00000416698) Source type: mixed | |||||||
rs1239669548 | 82 | Q>R | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.130269766A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269766A>G Locations: - p.Gln82Arg (Ensembl:ENST00000416698) - c.245A>G (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs760176223 | 84 | I>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.199) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000007.14:g.130269771A>C Codon: ATT/CTT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269771A>C Locations: - p.Ile84Leu (Ensembl:ENST00000416698) - c.250A>C (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs765815171 | 84 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.130269772T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269772T>C Locations: - p.Ile84Thr (Ensembl:ENST00000416698) - c.251T>C (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs760176223 | 84 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.143) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000007.14:g.130269771A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269771A>G Locations: - p.Ile84Val (Ensembl:ENST00000416698) - c.250A>G (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs1793272368 | 85 | A>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.66) Somatic: No Accession: NC_000007.14:g.130269774G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269774G>T Locations: - p.Ala85Ser (Ensembl:ENST00000416698) - c.253G>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1306125886 | 85 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000007.14:g.130269775C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269775C>T Locations: - p.Ala85Val (Ensembl:ENST00000416698) - c.254C>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs201632730 | 86 | Y>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.935) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130269778A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269778A>G Locations: - p.Tyr86Cys (Ensembl:ENST00000416698) - c.257A>G (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1288990855 | 88 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000007.14:g.130269783A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269783A>G Locations: - p.Ile88Val (Ensembl:ENST00000416698) - c.262A>G (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1447425171 | 89 | M>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.130269788G>A, NC_000007.14:g.130269788G>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269788G>A, NC_000007.14:g.130269788G>T Locations: - p.M89I (NCI-TCGA:ENST00000416698) - p.Met89Ile (Ensembl:ENST00000416698) - c.267G>A (Ensembl:ENST00000416698) - c.267G>T (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs1793272527 | 89 | M>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000007.14:g.130269787T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269787T>C Locations: - p.Met89Thr (Ensembl:ENST00000416698) - c.266T>C (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1562920088 | 90 | I>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130269790T>A Codon: ATT/AAT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269790T>A Locations: - p.Ile90Asn (Ensembl:ENST00000416698) - c.269T>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1562920088 | 90 | I>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.130269790T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269790T>C Locations: - p.Ile90Thr (Ensembl:ENST00000416698) - c.269T>C (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs763402606 | 91 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000007.14:g.130269794A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269794A>C Locations: - p.Glu91Asp (Ensembl:ENST00000416698) - c.273A>C (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs764316460 | 92 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.88) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130269797C>G, NC_000007.14:g.130269797C>A Codon: GAC/GAG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269797C>G, NC_000007.14:g.130269797C>A Locations: - p.Asp92Glu (Ensembl:ENST00000416698) - c.276C>G (Ensembl:ENST00000416698) - c.276C>A (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs755655502 | 93 | V>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130269799T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269799T>C Locations: - p.Val93Ala (Ensembl:ENST00000416698) - c.278T>C (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs751540588 | 93 | V>L | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.71) Somatic: No Accession: NC_000007.14:g.130269798G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269798G>C Locations: - p.Val93Leu (Ensembl:ENST00000416698) - c.277G>C (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs751540588 | 93 | V>M | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.803) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130269798G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269798G>A Locations: - p.Val93Met (Ensembl:ENST00000416698) - c.277G>A (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs1793272820 | 94 | Q>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.864) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130269801C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269801C>G Locations: - p.Gln94Glu (Ensembl:ENST00000416698) - c.280C>G (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs779680426 | 94 | Q>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130269802A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130269802A>C Locations: - p.Gln94Pro (Ensembl:ENST00000416698) - c.281A>C (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs373103770 | 95 | V>I | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000007.14:g.130270693G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130270693G>A Locations: - p.Val95Ile (Ensembl:ENST00000416698) - c.283G>A (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs377750328 | 100 | E>V | Variant of uncertain significance (Ensembl) | ESP ExAC | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.928) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130270709A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130270709A>T Locations: - p.Glu100Val (Ensembl:ENST00000416698) - c.299A>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1444495673 | 101 | N>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.130270711A>T Codon: AAT/TAT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130270711A>T Locations: - p.Asn101Tyr (Ensembl:ENST00000416698) - c.301A>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
COSV55979077 rs774574693 | 103 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.000003977 (gnomAD) Accession: NC_000007.14:g.130270717G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130270717G>T Locations: - p.E103* (NCI-TCGA:ENST00000416698) - p.Glu103Ter (Ensembl:ENST00000416698) - c.307G>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs753388349 | 104 | M>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.130270722G>T, NC_000007.14:g.130270722G>A Codon: ATG/ATT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130270722G>T, NC_000007.14:g.130270722G>A Locations: - p.Met104Ile (Ensembl:ENST00000416698) - c.312G>T (Ensembl:ENST00000416698) - c.312G>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs765993385 | 104 | M>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.802) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130270720A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130270720A>G Locations: - p.Met104Val (Ensembl:ENST00000416698) - c.310A>G (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs751598143 | 107 | N>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.72) Somatic: No Accession: NC_000007.14:g.130270730A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130270730A>G Locations: - p.Asn107Ser (Ensembl:ENST00000416698) - c.320A>G (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs1168806019 | 108 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.629) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.130270732A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130270732A>G Locations: - p.Arg108Gly (Ensembl:ENST00000416698) - c.322A>G (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs764680630 | 109 | R>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.335) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000007.14:g.130270736G>T Codon: AGA/ATA Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130270736G>T Locations: - p.Arg109Ile (Ensembl:ENST00000416698) - c.326G>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs752696326 | 110 | R>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.323) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000007.14:g.130270739G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130270739G>A Locations: - p.Arg110Lys (Ensembl:ENST00000416698) - c.329G>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs758206660 | 111 | E>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.130270741G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130270741G>C Locations: - p.Glu111Gln (Ensembl:ENST00000416698) - c.331G>C (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs746754566 | 112 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.107) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.130270745G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130270745G>A Locations: - p.Arg112Gln (Ensembl:ENST00000416698) - c.335G>A (Ensembl:ENST00000416698) Source type: large scale study | |||||||
COSV55979498 rs777694068 | 112 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.072) - SIFT: tolerated (0.07) Somatic: No Population frequencies: - MAF: 0.00002784 (gnomAD) Accession: NC_000007.14:g.130270744C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130270744C>T Locations: - p.R112W (NCI-TCGA:ENST00000416698) - p.Arg112Trp (Ensembl:ENST00000416698) - c.334C>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1040086552 | 113 | S>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.130270749T>G Codon: AGT/AGG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130270749T>G Locations: - p.Ser113Arg (Ensembl:ENST00000416698) - c.339T>G (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs994193992 | 114 | G>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.95) Somatic: No Accession: NC_000007.14:g.130270750G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130270750G>A Locations: - p.Gly114Ser (Ensembl:ENST00000416698) - c.340G>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs757534743 | 116 | F>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.366) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.130270758C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130270758C>A Locations: - p.Phe116Leu (Ensembl:ENST00000416698) - c.348C>A (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs1193229702 | 117 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000007.14:g.130270760A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130270760A>G Locations: - p.Asn117Ser (Ensembl:ENST00000416698) - c.350A>G (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs781593522 | 118 | F>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.130270763T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130270763T>C Locations: - p.Phe118Ser (Ensembl:ENST00000416698) - c.353T>C (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs746034700 | 119 | G>V | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.305) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130270766G>T Codon: GGG/GTG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130270766G>T Locations: - p.Gly119Val (Ensembl:ENST00000416698) - c.356G>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1793285111 | 121 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130270772A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130270772A>G Locations: - p.Tyr121Cys (Ensembl:ENST00000416698) - c.362A>G (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs113636305 | 122 | H>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.937) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.130270775A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130270775A>G Locations: - p.His122Arg (Ensembl:ENST00000416698) - c.365A>G (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1793285141 | 122 | H>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.818) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.130270774C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130270774C>T Locations: - p.His122Tyr (Ensembl:ENST00000416698) - c.364C>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs770006358 | 123 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.425) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.130270778C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130270778C>T Locations: - p.Thr123Ile (Ensembl:ENST00000416698) - c.368C>T (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs1793285333 | 126 | E>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.848) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130270787A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130270787A>T Locations: - p.Glu126Val (Ensembl:ENST00000416698) - c.377A>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs781074477 | 128 | S>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130273079T>G Codon: TCC/GCC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273079T>G Locations: - p.Ser128Ala (Ensembl:ENST00000416698) - c.382T>G (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs1793316355 | 131 | M>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.058) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000007.14:g.130273090G>T Codon: ATG/ATT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273090G>T Locations: - p.Met131Ile (Ensembl:ENST00000416698) - c.393G>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1562920902 | 132 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.917) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.130273092A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273092A>G Locations: - p.Asp132Gly (Ensembl:ENST00000416698) - c.395A>G (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1562920902 | 132 | D>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.545) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130273092A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273092A>T Locations: - p.Asp132Val (Ensembl:ENST00000416698) - c.395A>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs756399806 | 133 | N>K | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.049) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000007.14:g.130273096C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273096C>G Locations: - p.Asn133Lys (Ensembl:ENST00000416698) - c.399C>G (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs780237288 | 134 | L>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130273098T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273098T>C Locations: - p.Leu134Pro (Ensembl:ENST00000416698) - c.401T>C (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs748413926 | 135 | V>M | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.422) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.130273100G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273100G>A Locations: - p.Val135Met (Ensembl:ENST00000416698) - c.403G>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs370654440 | 137 | E>K | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.130273106G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273106G>A Locations: - p.Glu137Lys (Ensembl:ENST00000416698) - c.409G>A (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs1394011042 | 138 | H>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.551) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.130273111C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273111C>A Locations: - p.His138Gln (Ensembl:ENST00000416698) - c.414C>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs113906862 | 138 | H>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.24) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.130273110A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273110A>G Locations: - p.His138Arg (Ensembl:ENST00000416698) - c.413A>G (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs748641894 | 138 | H>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.77) Somatic: No Accession: NC_000007.14:g.130273109C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273109C>T Locations: - p.His138Tyr (Ensembl:ENST00000416698) - c.412C>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1326846560 | 139 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.822) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130273113C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273113C>T Locations: - p.Pro139Leu (Ensembl:ENST00000416698) - c.416C>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1390839293 | 139 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.6) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000007.14:g.130273112C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273112C>T Locations: - p.Pro139Ser (Ensembl:ENST00000416698) - c.415C>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1390839293 | 139 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.851) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130273112C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273112C>A Locations: - p.Pro139Thr (Ensembl:ENST00000416698) - c.415C>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs999880883 | 140 | G>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000007.14:g.130273116G>C Codon: GGT/GCT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273116G>C Locations: - p.Gly140Ala (Ensembl:ENST00000416698) - c.419G>C (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs374786646 | 140 | G>C | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.714) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130273115G>T Codon: GGT/TGT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273115G>T Locations: - p.Gly140Cys (Ensembl:ENST00000416698) - c.418G>T (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs374786646 | 140 | G>R | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000007.14:g.130273115G>C Codon: GGT/CGT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273115G>C Locations: - p.Gly140Arg (Ensembl:ENST00000416698) - c.418G>C (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs769426962 | 142 | V>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.130273122T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273122T>A Locations: - p.Val142Glu (Ensembl:ENST00000416698) - c.425T>A (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs759255550 | 142 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.944) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.130273121G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273121G>A Locations: - p.Val142Met (Ensembl:ENST00000416698) - c.424G>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs139150196 | 143 | S>N | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.251) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.130273125G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273125G>A Locations: - p.Ser143Asn (Ensembl:ENST00000416698) - c.428G>A (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs1422350753 | 144 | K>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.659) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.130273127A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273127A>C Locations: - p.Lys144Gln (Ensembl:ENST00000416698) - c.430A>C (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1033234221 | 145 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.935) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130273131T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273131T>C Locations: - p.Val145Ala (Ensembl:ENST00000416698) - c.434T>C (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs762396446 | 146 | N>I | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.096) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.130273134A>T Codon: AAT/ATT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273134A>T Locations: - p.Asn146Ile (Ensembl:ENST00000416698) - c.437A>T (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs1459291243 | 147 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.097) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.130273136A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273136A>G Locations: - p.Ile147Val (Ensembl:ENST00000416698) - c.439A>G (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs751462314 | 150 | S>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130273146C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273146C>T Locations: - p.Ser150Phe (Ensembl:ENST00000416698) - c.449C>T (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs76509864 | 152 | E>* | ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.130273151G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273151G>T Locations: - p.Glu152Ter (Ensembl:ENST00000416698) - c.454G>T (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs76509864 | 152 | E>K | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.130273151G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273151G>A Locations: - p.Glu152Lys (Ensembl:ENST00000416698) - c.454G>A (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs1166835386 | 154 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130273157C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273157C>G Locations: - p.Arg154Gly (Ensembl:ENST00000416698) - c.460C>G (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs202062837 | 154 | R>Q | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.964) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.130273158G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273158G>A Locations: - p.Arg154Gln (Ensembl:ENST00000416698) - c.461G>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1166835386 | 154 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.941) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.130273157C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273157C>T Locations: - p.Arg154Trp (Ensembl:ENST00000416698) - c.460C>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1203258850 | 155 | P>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.636) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.130273160C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273160C>G Locations: - p.Pro155Ala (Ensembl:ENST00000416698) - c.463C>G (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1793318938 | 155 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.343) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.130273161C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273161C>T Locations: - p.Pro155Leu (Ensembl:ENST00000416698) - c.464C>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1161006376 | 156 | M>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000007.14:g.130273165G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273165G>A Locations: - p.Met156Ile (Ensembl:ENST00000416698) - c.468G>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs750229863 | 156 | M>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.558) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130273163A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273163A>G Locations: - p.Met156Val (Ensembl:ENST00000416698) - c.466A>G (Ensembl:ENST00000416698) Source type: large scale study | |||||||
rs1793319059 | 157 | N>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.285) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000007.14:g.130273166A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273166A>G Locations: - p.Asn157Asp (Ensembl:ENST00000416698) - c.469A>G (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1447106943 | 158 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.481) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130273169G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273169G>A Locations: - p.Val158Met (Ensembl:ENST00000416698) - c.472G>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1793319286 | 159 | L>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130273173T>A Codon: CTC/CAC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273173T>A Locations: - p.Leu159His (Ensembl:ENST00000416698) - c.476T>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs754051664 | 160 | K>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130273176A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273176A>T Locations: - p.Lys160Met (Ensembl:ENST00000416698) - c.479A>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
COSV99744351 rs780109016 | 160 | K>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.00001194 (gnomAD) Accession: NC_000007.14:g.130273175A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273175A>C Locations: - p.K160Q (NCI-TCGA:ENST00000416698) - p.Lys160Gln (Ensembl:ENST00000416698) - c.478A>C (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1228790310 | 162 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130273709A>T Codon: AGT/TGT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273709A>T Locations: - p.Ser162Cys (Ensembl:ENST00000416698) - c.484A>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1793332947 | 162 | S>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.496) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130273710G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273710G>A Locations: - p.Ser162Asn (Ensembl:ENST00000416698) - c.485G>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1381315524 | 163 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130273713C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273713C>T Locations: - p.Ser163Phe (Ensembl:ENST00000416698) - c.488C>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1381315524 | 163 | S>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.102) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130273713C>A Codon: TCT/TAT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273713C>A Locations: - p.Ser163Tyr (Ensembl:ENST00000416698) - c.488C>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1584734080 | 164 | G>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.130273715G>T Codon: GGT/TGT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273715G>T Locations: - p.Gly164Cys (Ensembl:ENST00000416698) - c.490G>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1793333091 | 165 | R>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.824) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.130273718C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273718C>T Locations: - p.Arg165Cys (Ensembl:ENST00000416698) - c.493C>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1305191680 | 165 | R>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.777) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.130273719G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273719G>A Locations: - p.Arg165His (Ensembl:ENST00000416698) - c.494G>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1793333091 | 165 | R>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000007.14:g.130273718C>A Codon: CGT/AGT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273718C>A Locations: - p.Arg165Ser (Ensembl:ENST00000416698) - c.493C>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1297699276 | 166 | M>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000007.14:g.130273722T>A Codon: ATG/AAG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273722T>A Locations: - p.Met166Lys (Ensembl:ENST00000416698) - c.497T>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1401117185 | 166 | M>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.67) Somatic: No Accession: NC_000007.14:g.130273721A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273721A>T Locations: - p.Met166Leu (Ensembl:ENST00000416698) - c.496A>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1401117185 | 166 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000007.14:g.130273721A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273721A>G Locations: - p.Met166Val (Ensembl:ENST00000416698) - c.496A>G (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1359911377 | 167 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.130273724C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273724C>T Locations: - p.Gln167Ter (Ensembl:ENST00000416698) - c.499C>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs758957047 | 167 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000007.14:g.130273725A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273725A>G Locations: - p.Gln167Arg (Ensembl:ENST00000416698) - c.500A>G (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1311398026 | 169 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.82) Somatic: No Accession: NC_000007.14:g.130273730G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273730G>A Locations: - p.Asp169Asn (Ensembl:ENST00000416698) - c.505G>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1231897530 | 169 | D>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.339) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000007.14:g.130273731A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273731A>T Locations: - p.Asp169Val (Ensembl:ENST00000416698) - c.506A>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1584734096 | 170 | D>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.439) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000007.14:g.130273733G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273733G>T Locations: - p.Asp170Tyr (Ensembl:ENST00000416698) - c.508G>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1488604925 | 171 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated - low confidence (0.66) Somatic: No Accession: NC_000007.14:g.130273737G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273737G>A Locations: - p.Gly171Glu (Ensembl:ENST00000416698) - c.512G>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1488604925 | 171 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: tolerated - low confidence (0.69) Somatic: No Accession: NC_000007.14:g.130273737G>T Codon: GGA/GTA Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273737G>T Locations: - p.Gly171Val (Ensembl:ENST00000416698) - c.512G>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1584734102 | 174 | N>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.130273747C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273747C>A Locations: - p.Asn174Lys (Ensembl:ENST00000416698) - c.522C>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1793333541 | 175 | P>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.130273748C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273748C>A Locations: - p.Pro175Thr (Ensembl:ENST00000416698) - c.523C>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1489142020 | 177 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.130273755C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273755C>T Locations: - p.Pro177Leu (Ensembl:ENST00000416698) - c.530C>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1239882156 | 177 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.130273754C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273754C>T Locations: - p.Pro177Ser (Ensembl:ENST00000416698) - c.529C>T (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1424110751 | 181 | T>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000007.14:g.130273767C>A Codon: ACG/AAG Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273767C>A Locations: - p.Thr181Lys (Ensembl:ENST00000416698) - c.542C>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs80294429 | 182 | P>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.130273770C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273770C>A Locations: - p.Pro182His (Ensembl:ENST00000416698) - c.545C>A (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1172215535 | 183 | *>= | gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000007.14:g.130273773del Codon: TGA/TA Consequence type: stop lost Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273773del Locations: - p.Ter183= (Ensembl:ENST00000416698) - c.548del (Ensembl:ENST00000416698) Source type: large scale study Cross-references: | |||||||
rs1382518176 | 183 | *>S | gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000007.14:g.130273773G>C Codon: TGA/TCA Consequence type: stop lost Cytogenetic band: 7q32.2 Genomic location: NC_000007.14:g.130273773G>C Locations: - p.Ter183SerextTer5 (Ensembl:ENST00000416698) - c.548G>C (Ensembl:ENST00000416698) Source type: large scale study Cross-references: |