C9JM95 · C9JM95_HUMAN
- ProteinLunapark, ER junction formation factor
- GeneLNPK
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs185936428 | 3 | G>E | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.863) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.175995577C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175995577C>T Locations: - p.Gly3Glu (Ensembl:ENST00000445472) - c.8G>A (Ensembl:ENST00000445472) Source type: large scale study | |||||||
rs1475459776 | 4 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.265) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000002.12:g.175995573T>A Codon: TTA/TTT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175995573T>A Locations: - p.Leu4Phe (Ensembl:ENST00000445472) - c.12A>T (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs376647514 | 5 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000002.12:g.175995572A>G Codon: TTT/CTT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175995572A>G Locations: - p.Phe5Leu (Ensembl:ENST00000445472) - c.13T>C (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
COSV55825148 rs776415364 | 7 | R>* | cosmic curated ExAC gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.175995566G>A Codon: CGA/TGA Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175995566G>A Locations: - p.Arg7Ter (Ensembl:ENST00000445472) - c.19C>T (Ensembl:ENST00000445472) Source type: large scale study | |||||||
rs1410861603 | 7 | R>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.667) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000002.12:g.175995565C>A Codon: CGA/CTA Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175995565C>A Locations: - p.Arg7Leu (Ensembl:ENST00000445472) - c.20G>T (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs1410861603 | 7 | R>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.951) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.175995565C>G Codon: CGA/CCA Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175995565C>G Locations: - p.Arg7Pro (Ensembl:ENST00000445472) - c.20G>C (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs1410861603 | 7 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.863) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000002.12:g.175995565C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175995565C>T Locations: - p.Arg7Gln (Ensembl:ENST00000445472) - c.20G>A (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs894609327 | 8 | W>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.175995561C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175995561C>G Locations: - p.Trp8Cys (Ensembl:ENST00000445472) - c.24G>C (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs1687779908 | 10 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000002.12:g.175993223T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175993223T>C Locations: - p.Thr10Ala (Ensembl:ENST00000445472) - c.28A>G (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs1574903190 | 12 | P>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.822) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.175993216G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175993216G>C Locations: - p.Pro12Arg (Ensembl:ENST00000445472) - c.35C>G (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs544046656 | 14 | T>A | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.175993211T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175993211T>C Locations: - p.Thr14Ala (Ensembl:ENST00000445472) - c.40A>G (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs1309191779 | 15 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.25) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.175993207A>G Codon: GTA/GCA Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175993207A>G Locations: - p.Val15Ala (Ensembl:ENST00000445472) - c.44T>C (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs1483923585 | 15 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000002.12:g.175993208C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175993208C>T Locations: - p.Val15Ile (Ensembl:ENST00000445472) - c.43G>A (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs759946088 | 17 | V>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.905) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.175993202C>A Codon: GTT/TTT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175993202C>A Locations: - p.Val17Phe (Ensembl:ENST00000445472) - c.49G>T (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs200516458 | 20 | S>N | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000002.12:g.175993192C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175993192C>T Locations: - p.Ser20Asn (Ensembl:ENST00000445472) - c.59G>A (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs200516458 | 20 | S>T | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000002.12:g.175993192C>G Codon: AGT/ACT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175993192C>G Locations: - p.Ser20Thr (Ensembl:ENST00000445472) - c.59G>C (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs1019667456 | 21 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.635) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.175993190T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175993190T>C Locations: - p.Ile21Val (Ensembl:ENST00000445472) - c.61A>G (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs749410153 | 22 | D>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.175993186T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175993186T>C Locations: - p.Asp22Gly (Ensembl:ENST00000445472) - c.65A>G (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs1687747198 | 24 | E>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (1) Somatic: No Accession: NC_000002.12:g.175992416T>A Codon: GAA/GAT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992416T>A Locations: - p.Glu24Asp (Ensembl:ENST00000445472) - c.72A>T (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs1411954003 | 30 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.089) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000002.12:g.175992398T>G Codon: GAA/GAC Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992398T>G Locations: - p.Glu30Asp (Ensembl:ENST00000445472) - c.90A>C (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
COSV55825229 rs771503054 | 30 | E>K | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.234) - SIFT: tolerated (0.13) Somatic: Yes Accession: NC_000002.12:g.175992400C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992400C>T Locations: - p.Glu30Lys (Ensembl:ENST00000445472) - c.88G>A (Ensembl:ENST00000445472) Source type: large scale study | |||||||
rs1259538839 | 32 | R>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.049) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.175992393C>G Codon: AGG/ACG Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992393C>G Locations: - p.Arg32Thr (Ensembl:ENST00000445472) - c.95G>C (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
COSV55823151 rs1346419992 | 33 | E>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.401) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000002.12:g.175992390T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992390T>C Locations: - p.E33G (NCI-TCGA:ENST00000445472) - p.Glu33Gly (Ensembl:ENST00000445472) - c.98A>G (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
COSV99770434 rs773440806 | 34 | K>N | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.482) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000002.12:g.175992386T>G Codon: AAA/AAC Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992386T>G Locations: - p.Lys34Asn (Ensembl:ENST00000445472) - c.102A>C (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs77192189 | 35 | N>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.947) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.175992384T>A Codon: AAT/ATT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992384T>A Locations: - p.Asn35Ile (Ensembl:ENST00000445472) - c.104A>T (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs1165652937 | 35 | N>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.386) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000002.12:g.175992385T>A Codon: AAT/TAT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992385T>A Locations: - p.Asn35Tyr (Ensembl:ENST00000445472) - c.103A>T (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
COSV55826220 rs139155854 | 36 | Q>K | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.732) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000002.12:g.175992382G>T Codon: CAG/AAG Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992382G>T Locations: - p.Gln36Lys (Ensembl:ENST00000445472) - c.106C>A (Ensembl:ENST00000445472) Source type: large scale study | |||||||
rs748381807 | 36 | Q>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.863) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.175992381T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992381T>C Locations: - p.Gln36Arg (Ensembl:ENST00000445472) - c.107A>G (Ensembl:ENST00000445472) Source type: large scale study | |||||||
rs777038146 | 37 | R>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.933) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.175992378C>A Codon: AGA/ATA Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992378C>A Locations: - p.Arg37Ile (Ensembl:ENST00000445472) - c.110G>T (Ensembl:ENST00000445472) Source type: large scale study | |||||||
rs771745762 | 42 | W>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.175992362C>A Codon: TGG/TGT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992362C>A Locations: - p.Trp42Cys (Ensembl:ENST00000445472) - c.126G>T (Ensembl:ENST00000445472) Source type: large scale study | |||||||
rs921327239 | 44 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.175992357C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992357C>T Locations: - p.Gly44Glu (Ensembl:ENST00000445472) - c.131G>A (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs1246105460 | 45 | R>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.966) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.175992354C>A Codon: AGA/ATA Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992354C>A Locations: - p.Arg45Ile (Ensembl:ENST00000445472) - c.134G>T (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs1436632461 | 51 | S>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.216) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000002.12:g.175992336G>A Codon: TCA/TTA Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992336G>A Locations: - p.Ser51Leu (Ensembl:ENST00000445472) - c.152C>T (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs1464111230 | 52 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000002.12:g.175992334C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992334C>T Locations: - p.Val52Ile (Ensembl:ENST00000445472) - c.154G>A (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs1324727802 | 53 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.175992330A>G Codon: CTC/CCC Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992330A>G Locations: - p.Leu53Pro (Ensembl:ENST00000445472) - c.158T>C (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs1163807600 | 54 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.175992327T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992327T>C Locations: - p.Tyr54Cys (Ensembl:ENST00000445472) - c.161A>G (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs565088365 | 54 | Y>H | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.175992328A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992328A>G Locations: - p.Tyr54His (Ensembl:ENST00000445472) - c.160T>C (Ensembl:ENST00000445472) Source type: large scale study | |||||||
rs1163807600 | 54 | Y>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.175992327T>G Codon: TAT/TCT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992327T>G Locations: - p.Tyr54Ser (Ensembl:ENST00000445472) - c.161A>C (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs1475064337 | 56 | F>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.175992321A>G Codon: TTT/TCT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992321A>G Locations: - p.Phe56Ser (Ensembl:ENST00000445472) - c.167T>C (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs2105720763 | 60 | I>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000002.12:g.175992309A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992309A>G Locations: - p.Ile60Thr (Ensembl:ENST00000445472) - c.179T>C (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs200211851 | 60 | I>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000002.12:g.175992310T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992310T>C Locations: - p.Ile60Val (Ensembl:ENST00000445472) - c.178A>G (Ensembl:ENST00000445472) Source type: large scale study | |||||||
rs1159524733 | 66 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000002.12:g.175992292G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992292G>A Locations: - p.Leu66Phe (Ensembl:ENST00000445472) - c.196C>T (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs1471869717 | 67 | P>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.175992288G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992288G>C Locations: - p.Pro67Arg (Ensembl:ENST00000445472) - c.200C>G (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs2105720713 | 68 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.175992285T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992285T>C Locations: - p.Asp68Gly (Ensembl:ENST00000445472) - c.203A>G (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs1467432972 | 71 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000002.12:g.175992276G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992276G>A Locations: - p.Thr71Ile (Ensembl:ENST00000445472) - c.212C>T (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs767246204 | 72 | A>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (1) Somatic: No Accession: NC_000002.12:g.175992273G>C Codon: GCA/GGA Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992273G>C Locations: - p.Ala72Gly (Ensembl:ENST00000445472) - c.215C>G (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs946067164 | 73 | R>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.2) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000002.12:g.175992270C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992270C>T Locations: - p.Arg73Lys (Ensembl:ENST00000445472) - c.218G>A (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs1210788034 | 73 | R>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.878) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.175992269T>A Codon: AGA/AGT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992269T>A Locations: - p.Arg73Ser (Ensembl:ENST00000445472) - c.219A>T (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs755259313 | 74 | L>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000002.12:g.175992268G>C Codon: CTT/GTT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992268G>C Locations: - p.Leu74Val (Ensembl:ENST00000445472) - c.220C>G (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs374339506 | 75 | A>D | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.199) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.175992264G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992264G>T Locations: - p.Ala75Asp (Ensembl:ENST00000445472) - c.224C>A (Ensembl:ENST00000445472) Source type: large scale study | |||||||
COSV105067824 rs2105720646 | 75 | A>S | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000002.12:g.175992265C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992265C>A Locations: - p.Ala75Ser (Ensembl:ENST00000445472) - c.223G>T (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs374339506 | 75 | A>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000002.12:g.175992264G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992264G>A Locations: - p.Ala75Val (Ensembl:ENST00000445472) - c.224C>T (Ensembl:ENST00000445472) Source type: large scale study | |||||||
rs773927374 | 76 | M>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000002.12:g.175992260C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992260C>T Locations: - p.Met76Ile (Ensembl:ENST00000445472) - c.228G>A (Ensembl:ENST00000445472) Source type: large scale study | |||||||
COSV55824652 rs763540898 | 76 | M>V | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.13) Somatic: Yes Accession: NC_000002.12:g.175992262T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992262T>C Locations: - p.Met76Val (Ensembl:ENST00000445472) - c.226A>G (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs374215321 | 77 | T>A | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (1) Somatic: No Accession: NC_000002.12:g.175992259T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992259T>C Locations: - p.Thr77Ala (Ensembl:ENST00000445472) - c.229A>G (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs1181165480 | 77 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.107) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000002.12:g.175992258G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992258G>A Locations: - p.Thr77Ile (Ensembl:ENST00000445472) - c.230C>T (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs374215321 | 77 | T>P | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.802) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.175992259T>G Codon: ACA/CCA Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992259T>G Locations: - p.Thr77Pro (Ensembl:ENST00000445472) - c.229A>C (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
COSV106330800 rs1302874395 | 78 | L>F | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000002.12:g.175992256G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992256G>A Locations: - p.Leu78Phe (Ensembl:ENST00000445472) - c.232C>T (Ensembl:ENST00000445472) Source type: large scale study | |||||||
rs1356836970 | 78 | L>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.175992255A>C Codon: CTC/CGC Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992255A>C Locations: - p.Leu78Arg (Ensembl:ENST00000445472) - c.233T>G (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
COSV55825675 rs147938805 | 79 | P>S | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000002.12:g.175992253G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992253G>A Locations: - p.Pro79Ser (Ensembl:ENST00000445472) - c.235C>T (Ensembl:ENST00000445472) Source type: large scale study | |||||||
rs1258216352 | 82 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000002.12:g.175992244C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992244C>A Locations: - p.Ala82Ser (Ensembl:ENST00000445472) - c.244G>T (Ensembl:ENST00000445472) Source type: large scale study Cross-references: | |||||||
rs1198591881 | 82 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (1) Somatic: No Accession: NC_000002.12:g.175992243G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175992243G>A Locations: - p.Ala82Val (Ensembl:ENST00000445472) - c.245C>T (Ensembl:ENST00000445472) Source type: large scale study Cross-references: |