Wikidata:Database reports/Constraint violations/P6861

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Constraint violations report for dbSNP Reference SNP number (Discussion, uses, items, changes, related properties): identifier used in dbSNP to uniquely identify a genetic variant
Data time stamp: 18 January 2024, 11:01 (UTC) — Items processed: 537
The report is generated based on the settings on Property:P6861#P2302.
Updates overwrite this page. Some may already be fixed since the last update: check RecentChangesLinked.
When incremental dumps and the bot work as planned, items fixed before 07:00 UTC disappear in the next update. The report is not updated if only the item count changes.
The report can include false positives. There is no need to "fix" them.

"Type single nucleotide variant (Q111907054)" violations

Violations count: 536

• 5-HTTLPR (Q3299516): genetic polymorphism (Q3395645), single-nucleotide polymorphism (Q501128)
• rs1801133 (Q4048578): single-nucleotide polymorphism (Q501128)
• Asp294His (Q4807668): single-nucleotide polymorphism (Q501128)
• rs1800955 (Q7375568): single-nucleotide polymorphism (Q501128)
• rs6265 (Q7375573): single-nucleotide polymorphism (Q501128)
• rs6311 (Q7375578): single-nucleotide polymorphism (Q501128)
• rs6314 (Q7375579): single-nucleotide polymorphism (Q501128)
• rs267601217 (Q15304616): single-nucleotide polymorphism (Q501128)
• rs8176058 (Q18341737): single-nucleotide polymorphism (Q501128)
• NM 000492.3(CFTR):c.1521 1523delCTT (p.Phe508delPhe) (Q19888172): inframe variant (Q28419132)
• BRAF V600E (Q21851559): missense mutation (Q2656896)
• EGFR T790M (Q25100112): missense mutation (Q2656896)
• KIT M541L (Q27828219): missense mutation (Q2656896)
• ABL1 BCR::ABL T315I (Q27906612): missense mutation (Q2656896), transcript fusion (Q28419128)
• ABL1 BCR::ABL E255K (Q27906817): missense mutation (Q2656896), transcript fusion (Q28419128)
• AKT1 E17K (Q27907100): missense mutation (Q2656896)
• MAP2K1 P124S (Q27908075): missense mutation (Q2656896)
• NRAS Q61L (Q27908351): missense mutation (Q2656896)
• TP53 P47S (Q27908397): missense mutation (Q2656896)
• BRAF D594V (Q27908459): missense mutation (Q2656896)
• KDR R961W (Q27919337): missense mutation (Q2656896)
• ALK EML4::ALK C1156Y (Q27919341): missense mutation (Q2656896), transcript fusion (Q28419128)
• ERCC5 RS751402 (Q27919347): 5 Prime UTR Variant (Q27919343), single-nucleotide polymorphism (Q501128)
• RET M918T (Q27919563): missense mutation (Q2656896)
• RET C634W (Q27919564): missense mutation (Q2656896)
• BRAF L597R (Q28045562): missense mutation (Q2656896)
• ALK EML4::ALK L1196M (Q28045565): missense mutation (Q2656896), transcript fusion (Q28419128)
• ALK F1174L (Q28370065): missense mutation (Q2656896)
• ALK R1275Q (Q28370067): missense mutation (Q2656896)
• ARAF S214C (Q28370069): missense mutation (Q2656896)
• BRAF V600D (Q28370070): missense mutation (Q2656896)
• EGFR L858R (Q28370972): missense mutation (Q2656896)
• ERBB2 D769H (Q28370973): missense mutation (Q2656896)
• ERBB2 D769Y (Q28370974): missense mutation (Q2656896)
• ERBB2 G309A (Q28370976): missense mutation (Q2656896)
• ERBB2 L755S (Q28370977): missense mutation (Q2656896)
• ERBB2 L755W (Q28370978): missense mutation (Q2656896)
• ERBB2 R678Q (Q28370981): missense mutation (Q2656896)
• ERBB2 R896C (Q28370983): missense mutation (Q2656896)
• ERBB2 V777L (Q28370984): missense mutation (Q2656896)
• ERBB2 V842I (Q28370985): missense mutation (Q2656896)
• IDH1 R132C (Q28371000): missense mutation (Q2656896)
• IDH2 R172K (Q28371003): missense mutation (Q2656896)
• KIT L576P (Q28371006): missense mutation (Q2656896)
• KIT V654A (Q28371007): missense mutation (Q2656896)
• KRAS G12C (Q28371011): missense mutation (Q2656896)
• KRAS G12D (Q28371012): missense mutation (Q2656896)
• KRAS G13D (Q28371015): missense mutation (Q2656896)
• MAP2K1 Q56P (Q28371016): missense mutation (Q2656896)
• NRAS Q61R (Q28371023): missense mutation (Q2656896)
• PDGFRA D842I (Q28371024): missense mutation (Q2656896)
• PDGFRA D842V (Q28371025): missense mutation (Q2656896)
• PDGFRA D842Y (Q28371027): missense mutation (Q2656896)
• PIK3CA E542K (Q28371029): missense mutation (Q2656896)
• PIK3CA E545K (Q28371031): missense mutation (Q2656896)
• PIK3CA H1047R (Q28371034): missense mutation (Q2656896)
• SF3B1 K666N (Q28371037): missense mutation (Q2656896)
• TP53 R175H (Q28371038): missense mutation (Q2656896)
• TP53 R248Q (Q28371039): missense mutation (Q2656896)
• TP53 R248W (Q28371040): missense mutation (Q2656896)
• TP53 R249 (Q28371042): Protein Altering Variant (Q27907087)
• TP53 R273C (Q28371043): missense mutation (Q2656896)
• TP53 R273H (Q28371044): missense mutation (Q2656896)
• U2AF1 Q157P/R (Q28371046): missense mutation (Q2656896)
• U2AF1 S34Y/F (Q28371048): missense mutation (Q2656896)
• EGFR G719S (Q28371053): missense mutation (Q2656896)
• NOTCH1 D1642H (Q28371054): missense mutation (Q2656896)
• NOTCH1 R2327W (Q28371055): missense mutation (Q2656896)
• DDR2 L63V (Q28371058): missense mutation (Q2656896)
• DDR2 L239R (Q28371059): missense mutation (Q2656896)
• DDR2 G253C (Q28371060): missense mutation (Q2656896)
• DDR2 G505S (Q28371061): missense mutation (Q2656896)
• DDR2 I638F (Q28371062): missense mutation (Q2656896)
• DDR2 G774V (Q28371063): missense mutation (Q2656896)
• DDR2 S768R (Q28371064): missense mutation (Q2656896)
• KRAS G12A (Q28371066): missense mutation (Q2656896)
• BTK C481S (Q28371078): missense mutation (Q2656896)
• AKT1 Q79K (Q28371079): missense mutation (Q2656896)
• ALK ALK Fusion G1202R (Q28371081): missense mutation (Q2656896), transcript fusion (Q28419128)
• ALK EML4::ALK S1206Y (Q28371083): missense mutation (Q2656896), transcript fusion (Q28419128)
• AR F877L (Q28371087): missense mutation (Q2656896)
• FOXL2 C134W (Q28371107): missense mutation (Q2656896)
• NT5C2 R367Q (Q28371201): missense mutation (Q2656896)
• NT5C2 K359Q (Q28371202): missense mutation (Q2656896)
• NT5C2 D407A (Q28371203): missense mutation (Q2656896)
• ABL1 BCR::ABL F317L (Q28371204): missense mutation (Q2656896), transcript fusion (Q28419128)
• ATM N2875H (Q28371207): missense mutation (Q2656896)
• PDGFRA V561A (Q28371208): missense mutation (Q2656896)
• XRCC1 R194W (Q28371209): missense mutation (Q2656896)
• MTHFR A222V (Q28371213): missense mutation (Q2656896)
• GSTP1 I105V (Q28371214): missense mutation (Q2656896)
• ABCG2 Q141K (Q28371216): missense mutation (Q2656896)
• XRCC1 Q399R (Q28371217): missense mutation (Q2656896)
• ABCB1 S893T (Q28371218): missense mutation (Q2656896)
• ERCC2 K751Q (Q28371219): missense mutation (Q2656896)
• PIK3CA P471L (Q28371246): missense mutation (Q2656896)
• SMO D473H (Q28371251): missense mutation (Q2656896)
• ALK EML4::ALK L1152R (Q28371261): missense mutation (Q2656896), transcript fusion (Q28419128)
• ALK EML4::ALK G1269A (Q28371262): missense mutation (Q2656896), transcript fusion (Q28419128)
• EGFR G724S (Q28371271): missense mutation (Q2656896)
• KRAS A146V (Q28371275): missense mutation (Q2656896)
• SETBP1 G870S (Q28371307): missense mutation (Q2656896)
• RAC1 P29S (Q28371325): missense mutation (Q2656896)
• NQO1 P187S (Q28371363): missense mutation (Q2656896)
• EGFR C797S (Q28371379): missense mutation (Q2656896)
• IDH1 R132H (Q28371383): missense mutation (Q2656896)
• KRAS G12V (Q28371388): missense mutation (Q2656896)
• NRAS Q61K (Q28371390): missense mutation (Q2656896)
• FLT3 D835 (Q28371399): Protein Altering Variant (Q27907087)
• ABCB1 S893A/T (Q28371413): missense mutation (Q2656896)
• EGFR S492R (Q28371415): missense mutation (Q2656896)
• EGFR R451C (Q28371416): missense mutation (Q2656896)
• EGFR K467T (Q28371418): missense mutation (Q2656896)
• FCGR2A H167R (Q28371419): missense mutation (Q2656896)
• FCGR3A F212V (Q28371420): missense mutation (Q2656896)
• FCGR2B I232T (Q28371421): missense mutation (Q2656896)
• EGFR P753S (Q28371422): missense mutation (Q2656896)
• PML PML::RARA L218P (Q28371427): missense mutation (Q2656896), transcript fusion (Q28419128)
• ROS1 CD74::ROS1 G2032R (Q28371428): missense mutation (Q2656896), transcript fusion (Q28419128)
• KDR A1065T (Q28371431): missense mutation (Q2656896)
• MTOR F2108L (Q28371433): missense mutation (Q2656896)
• FGFR1 N546K (Q28371471): missense mutation (Q2656896)
• ALK ALK Fusion I1171 (Q28371483): missense mutation (Q2656896), transcript fusion (Q28419128)
• KRAS G12R (Q28371486): missense mutation (Q2656896)
• TP53 P72R (Q28371487): missense mutation (Q2656896)
• MTOR S2215Y (Q28371498): missense mutation (Q2656896)
• MTOR C1483Y (Q28371499): missense mutation (Q2656896)
• MTOR E1799K (Q28371500): missense mutation (Q2656896)
• ALK F1245C (Q28371504): missense mutation (Q2656896)
• ALK ALK Fusion F1245C (Q28371511): missense mutation (Q2656896), transcript fusion (Q28419128)
• ALK ALK Fusion G1269A (Q28371512): missense mutation (Q2656896), transcript fusion (Q28419128)
• CDK4 R24C (Q28371516): missense mutation (Q2656896)
• EGFR S768I (Q28371520): missense mutation (Q2656896)
• BRAF V600K (Q28371521): missense mutation (Q2656896)
• SF3B1 K700E (Q28371524): missense mutation (Q2656896)
• MAP2K7 E116K (Q28371526): missense mutation (Q2656896)
• PDGFRA FIP1L1::PDGFRA T674I (Q28371532): missense mutation (Q2656896), transcript fusion (Q28419128)
• BRAF D594A (Q28371534): missense mutation (Q2656896)
• BRAF L597S (Q28371537): missense mutation (Q2656896)
• BRAF L597Q (Q28371539): missense mutation (Q2656896)
• BRAF K601E (Q28371540): missense mutation (Q2656896)
• BRAF L597V (Q28371541): missense mutation (Q2656896)
• ALK HIP1::ALK I1171N (Q28371544): missense mutation (Q2656896), transcript fusion (Q28419128)
• GNAQ Q209P (Q28371558): missense mutation (Q2656896)
• MTOR A2034V (Q28371564): missense mutation (Q2656896)
• BRAF D594G (Q28371565): missense mutation (Q2656896)
• FLT3 D835H (Q28371566): missense mutation (Q2656896)
• MAP2K1 C121S (Q28371578): missense mutation (Q2656896)
• VHL R200W (c.598C>T) (Q28371582): missense mutation (Q2656896)
• MET D1228N (Q28371592): missense mutation (Q2656896)
• BRCA2 D3095E (Q28371604): missense mutation (Q2656896)
• ESR1 S463P (Q28371611): missense mutation (Q2656896)
• BRAF G596C (Q28371613): sequence variant (Q15304597)
• GADD45A rs681673 (Q28371621): Coding Transcript Intron Variant (Q28419134)
• HOXB13 G84E (Q28371627): missense mutation (Q2656896)
• EGFR D761Y (Q28371629): missense mutation (Q2656896)
• TSC1 R1062W (Q28371631): missense mutation (Q2656896)
• EGFR K757R (Q28371643): missense mutation (Q2656896)
• DPYD DPYD*2A HOMOZYGOSITY (Q28371650): Splice Donor Variant (Q29937349)
• DPYD DPYD*13 HOMOZYGOSITY (Q28371651): missense mutation (Q2656896)
• TYMS RS34743033 (Q28371657): sequence variant (Q15304597)
• CHEK2 1100DELC (Q28371663): Frameshift Truncation (Q28371705)
• CHEK2 I157T (Q28371664): missense mutation (Q2656896)
• PTPRD V253I (Q28371667): missense mutation (Q2656896)
• RUNX1 K83E (Q28371675): missense mutation (Q2656896)
• RUNX1 Y260* (Q28371676): Stop Gained (Q28371788)
• RUNX1 A107P (Q28371680): missense mutation (Q2656896)
• DDX41 R164W (Q28371688): missense mutation (Q2656896)
• MEN1 FRAMESHIFT TRUNCATION (Q28381266): Frameshift Truncation (Q28371705)
• TSC2 Q1178* (Q28381648): Stop Gained (Q28371788)
• RAD51D R186* (Q28381650): Stop Gained (Q28371788)
• FLT3 TKD MUTATION (Q28381821): Nonsynonymous Variant (Q27905684)
• PTEN R233* (Q28381837): Stop Gained (Q28371788), Loss Of Function Variant (Q27907094)
• TERT C228T (Q28382166): Regulatory Region Variant (Q28381988)
• FNTB RS11623866 (Q28382220): Regulatory Region Variant (Q28381988)
• PTEN R130* (Q28382358): Stop Gained (Q28371788)
• SLCO1B1 N130D (Q28382399): missense mutation (Q2656896)
• KRAS RS61764370 (Q28420832): 3 Prime UTR Variant (Q28419124)
• ABCB1 I1145I (Q28421333): Synonymous Variant (Q28419125)
• MTOR H1968Y (Q28422184): missense mutation (Q2656896), Gain Of Function Variant (Q28371786)
• MTOR P2213S (Q28422190): missense mutation (Q2656896), Gain Of Function Variant (Q28371786)
• MAPK1 E322K (Q28422415): missense mutation (Q2656896), Gain Of Function Variant (Q28371786)
• WEE1 RS3910384 (Q28422466): Intron Variant (Q28419129), Polymorphic Sequence Variant (Q28419136)
• MGMT RS16906252 (Q28422524): Synonymous Variant (Q28419125)
• TERT RS2736100 (Q28422904): Polymorphic Sequence Variant (Q28419136), Coding Transcript Intron Variant (Q28419134)
• ETS2 RS461155 (Q28423012): Synonymous Variant (Q28419125)
• KIT RS3733542 (Q28423248): Synonymous Variant (Q28419125)
• MDM2 SNP309 (Q28423261): Coding Transcript Intron Variant (Q28419134)
• FGFR2 N550K (Q28423283): missense mutation (Q2656896), Gain Of Function Variant (Q28371786)
• PPP1R15A RS557806 (Q28423286): missense mutation (Q2656896), Polymorphic Sequence Variant (Q28419136)
• STK11 D194E (Q28423321): missense mutation (Q2656896), loss of heterozygosity (Q2617554)
• CDKN2A RS3814960 (Q28423327): 5 Prime UTR Exon Variant (Q28419138)
• CBLB RS2305035 (Q28423329): Synonymous Variant (Q28419125), Polymorphic Sequence Variant (Q28419136)
• CASP8 D302H (Q28423335): missense mutation (Q2656896), Polymorphic Sequence Variant (Q28419136)
• SH2B3 RS3184504 (Q28423357): missense mutation (Q2656896), Polymorphic Sequence Variant (Q28419136)
• SLCO1B1 RS4149056 (Q28423378): missense mutation (Q2656896), Polymorphic Sequence Variant (Q28419136)
• JAK2 V617F (Q28429317): missense mutation (Q2656896), Gain Of Function Variant (Q28371786)
• HIF1A 3' UTR Polymorphism (Q28439513): 3 Prime UTR Variant (Q28419124), single-nucleotide polymorphism (Q501128)
• FLT3 T227M (Q28439606): missense mutation (Q2656896), single-nucleotide polymorphism (Q501128)
• KIT D816V (Q28531481): missense mutation (Q2656896)
• NRAS G13D (Q28531484): missense mutation (Q2656896)
• KIT rs17084733 (Q28531492): 3 Prime UTR Variant (Q28419124)
• HRAS G13D (Q28531493): missense mutation (Q2656896)
• FGFR3 S249C (Q28532466): missense mutation (Q2656896)
• ERBB3 V104M (Q28532478): missense mutation (Q2656896)
• ERBB3 G284R (Q28532480): missense mutation (Q2656896)
• MLH1 E13fs (Q28599621): Frameshift Truncation (Q28371705), Minus 1 Frameshift Variant (Q28419135)
• MSH2 R383* (Q28599622): Stop Gained (Q28371788)
• MLH1 c.790+1G>A (Q28599625): Splice Donor Variant (Q29937349)
• MLH1 R687FS (Q28599629): Frameshift Variant (Q28419131)
• MLH1 R100* (Q28599630): Stop Gained (Q28371788)
• MLH1 T117M (Q28599631): missense mutation (Q2656896)
• MLH1 R265G (Q28599637): missense mutation (Q2656896)
• MLH1 N551T (Q28599639): missense mutation (Q2656896)
• MLH1 A424T (Q28599640): missense mutation (Q2656896)
• MLH1 Q149* (Q28599641): Stop Gained (Q28371788)
• MLH1 R226* (Q28599642): Stop Gained (Q28371788)
• MLH1 G67R (Q28599645): missense mutation (Q2656896)
• MLH1 I68S (Q28599646): missense mutation (Q2656896)
• MLH1 G65D (Q28599647): missense mutation (Q2656896)
• MLH1 A681V (Q28599649): missense mutation (Q2656896)
• VHL E55RfsTer11 (c.163delG) (Q28599655): Frameshift Truncation (Q28371705)
• MSH6 R1242H (Q28599656): missense mutation (Q2656896)
• PMS2 R315* (Q28599657): Stop Gained (Q28371788)
• MLH1 M490T (Q28599658): missense mutation (Q2656896)
• MSH6 V352I (Q28599662): missense mutation (Q2656896)
• MSH6 R1242C (Q28599663): missense mutation (Q2656896)
• VHL A149S (c.445G>T) (Q28599668): missense mutation (Q2656896)
• JAK1 S703I (Q28735683): missense mutation (Q2656896)
• MYD88 L265P (Q29907339): missense mutation (Q2656896), Gain Of Function Variant (Q28371786)
• VHL E55= (c.165G>A) (Q29937960): Synonymous Variant (Q28419125)
• RUNX1 T148HFSX9 (Q29938042): Frameshift Truncation (Q28371705)
• GNAS R201C (Q29938047): missense mutation (Q2656896)
• PTEN R173C (Q29938054): missense mutation (Q2656896)
• VHL M1? (c.3G>A) (Q29938264): Start Lost (Q29938065)
• VHL N7D (c.19A>G) (Q29938265): missense mutation (Q2656896)
• VHL P25L (c.74C>T) (Q29938267): missense mutation (Q2656896)
• PDGFRA P577S (Q29938287): missense mutation (Q2656896)
• PDGFRA R841K (Q29938290): missense mutation (Q2656896)
• PDGFRA H845Y (Q29938291): missense mutation (Q2656896)
• PDGFRA G853D (Q29938293): missense mutation (Q2656896)
• ERBB2 N857S (Q29938312): missense mutation (Q2656896)
• NRAS G12D (Q29938324): missense mutation (Q2656896)
• TP53 G245S (Q29938325): missense mutation (Q2656896)
• PIK3CA E545Q (Q29938330): missense mutation (Q2656896)
• PIK3CA E545G (Q29938335): missense mutation (Q2656896)
• PIK3CA Q546K (Q29938337): missense mutation (Q2656896)
• ABL1 BCR::ABL F359V (Q29938345): missense mutation (Q2656896), transcript fusion (Q28419128)
• NRAS Q61H (Q29938347): missense mutation (Q2656896)
• NRAS G13R (Q29938349): missense mutation (Q2656896)
• NRAS G12C (Q29938351): missense mutation (Q2656896)
• ATM T2666A (Q29938353): missense mutation (Q2656896)
• ATM R3008C (Q29938357): missense mutation (Q2656896)
• KRAS A146P (Q29938360): missense mutation (Q2656896)
• KRAS A146T (Q29938362): missense mutation (Q2656896)
• KRAS Q61H (Q29938363): missense mutation (Q2656896)
• KRAS Q61L (Q29938364): missense mutation (Q2656896)
• KRAS Q61R (Q29938366): missense mutation (Q2656896)
• KRAS Q61K (Q29938368): missense mutation (Q2656896)
• KRAS G12S (Q29938370): missense mutation (Q2656896)
• TP53 R273L (Q29938378): sequence variant (Q15304597)
• TP53 Y220C (Q29938384): missense mutation (Q2656896)
• TP53 C135W (Q29938387): missense mutation (Q2656896)
• PIK3CA C420R (Q29938394): missense mutation (Q2656896)
• PIK3CA G1049R (Q29938407): missense mutation (Q2656896)
• KIT K550_K558del (Q29938412): Inframe Deletion (Q28371783)
• KIT W557_K558DELWK (Q29938433): sequence variant (Q15304597)
• KIT V560D (Q29938447): missense mutation (Q2656896)
• KIT V560G (Q29938451): missense mutation (Q2656896)
• KIT D579DEL (Q29938460): Inframe Deletion (Q28371783)
• KIT K642E (Q29938461): missense mutation (Q2656896)
• KIT D816H (Q29938468): missense mutation (Q2656896)
• KIT D820Y (Q29938470): missense mutation (Q2656896)
• KIT Y823D (Q29938472): missense mutation (Q2656896)
• EGFR G719A (Q29938474): missense mutation (Q2656896)
• EGFR E746_A750del (Q29938477): Inframe Deletion (Q28371783)
• EGFR L747_P753delinsS (Q29938506): Inframe Deletion (Q28371783)
• EGFR R831H (Q29938507): sequence variant (Q15304597)
• ABL1 BCR::ABL M244V (Q29938509): missense mutation (Q2656896), transcript fusion (Q28419128)
• ABL1 BCR::ABL L248V (Q29938511): missense mutation (Q2656896), transcript fusion (Q28419128)
• ABL1 BCR::ABL G250E (Q29938513): missense mutation (Q2656896), transcript fusion (Q28419128)
• ABL1 BCR::ABL Q252H (Q29938514): missense mutation (Q2656896), transcript fusion (Q28419128)
• ABL1 BCR::ABL Y253H (Q29938515): missense mutation (Q2656896), transcript fusion (Q28419128)
• ABL1 BCR::ABL Y253F (Q29938516): missense mutation (Q2656896), transcript fusion (Q28419128)
• ABL1 BCR::ABL D276G (Q29938518): missense mutation (Q2656896), transcript fusion (Q28419128)
• ABL1 BCR::ABL M351T (Q29938520): missense mutation (Q2656896), transcript fusion (Q28419128)
• ABL1 BCR::ABL H396R (Q29938523): missense mutation (Q2656896), transcript fusion (Q28419128)
• TP53 C242Y (Q29938567): missense mutation (Q2656896)
• TP53 M237I (Q29938570): missense mutation (Q2656896)
• TP53 Y234C (Q29938574): sequence variant (Q15304597)
• TP53 V157F (Q29938619): missense mutation (Q2656896)
• BRAF G464V (Q29938646): missense mutation (Q2656896)
• TP53 R282L (Q29938649): sequence variant (Q15304597)
• TP53 R213P (Q29938651): sequence variant (Q15304597)
• PIK3CA H1047L (Q29938665): missense mutation (Q2656896)
• ATM K293* (Q29938670): Stop Gained (Q28371788)
• ATM F1025L (Q29938675): missense mutation (Q2656896)
• ATM L2427P (Q29938687): missense mutation (Q2656896)
• ATM F2732V (Q29938688): missense mutation (Q2656896)
• ATM K468FS (Q29938690): Frameshift Variant (Q28419131)
• ATM D1682H (Q29938696): missense mutation (Q2656896)
• ATM C2488Y (Q29938701): missense mutation (Q2656896)
• ABL1 BCR::ABL E255V (Q29938702): missense mutation (Q2656896), transcript fusion (Q28419128)
• ABL1 BCR::ABL F359C (Q29938707): missense mutation (Q2656896), transcript fusion (Q28419128)
• ABL1 BCR::ABL V299L (Q29938716): missense mutation (Q2656896), transcript fusion (Q28419128)
• PIK3CA K111N (Q29938720): missense mutation (Q2656896)
• PIK3CA I391M (Q29938722): missense mutation (Q2656896)
• BRCA1 Q1467* (Q29938736): sequence variant (Q15304597)
• BRCA2 M1R (Q29938737): sequence variant (Q15304597)
• BRCA2 M1I (Q29938738): sequence variant (Q15304597)
• BRCA2 V159M (Q29938739): sequence variant (Q15304597)
• BRCA2 V211L (Q29938740): sequence variant (Q15304597)
• BRCA2 V211I (Q29938741): sequence variant (Q15304597)
• BRCA2 R2336P (Q29938742): sequence variant (Q15304597)
• RET C609Y (Q29938757): missense mutation (Q2656896)
• KIT N822K (Q29938762): missense mutation (Q2656896)
• KIT C809G (Q29938763): missense mutation (Q2656896)
• KIT D820A (Q29938764): missense mutation (Q2656896)
• KIT D820G (Q29938765): missense mutation (Q2656896)
• KIT T670I (Q29938766): missense mutation (Q2656896)
• ROS1 G2032R (Q29938774): missense mutation (Q2656896)
• MAP2K1 K57N (Q29938776): missense mutation (Q2656896)
• CTNNB1 T41A (Q29938793): missense mutation (Q2656896)
• CTNNB1 S45F (Q29938794): missense mutation (Q2656896)
• CTNNB1 S45P (Q29938795): missense mutation (Q2656896)
• ALK F1245V (Q29938808): missense mutation (Q2656896)
• FLT3 D835V (Q29938817): missense mutation (Q2656896)
• PIK3CA N345K (Q32948341): missense mutation (Q2656896)
• PDGFRA V561D (Q32948348): missense mutation (Q2656896)
• KIT V559D (Q32948368): missense mutation (Q2656896)
• BRAF G469A (Q32948475): missense mutation (Q2656896)
• EGFR R108K (Q32948481): missense mutation (Q2656896)
• EGFR T263P (Q32948487): missense mutation (Q2656896)
• EGFR A289V (Q32948491): missense mutation (Q2656896)
• EGFR V742A (Q32948502): sequence variant (Q15304597)
• EGFR L838V (Q32948651): missense mutation (Q2656896)
• EGFR L861Q (Q32948656): missense mutation (Q2656896)
• EGFR R776C (Q32949010): sequence variant (Q15304597)
• EGFR A864T (Q32949031): sequence variant (Q15304597)
• AKT3 E17K (Q32949075): missense mutation (Q2656896)
• FGFR3 K650E (Q32964814): sequence variant (Q15304597)
• EGFR G719D (Q32964822): missense mutation (Q2656896)
• EGFR T847I (Q32964855): missense mutation (Q2656896)
• EGFR L861R (Q32964873): missense mutation (Q2656896)
• ABL1 BCR::ABL E355G (Q32964883): missense mutation (Q2656896), transcript fusion (Q28419128)
• PIK3CA E81K (Q32964931): missense mutation (Q2656896)
• ABL1 BCR::ABL E453Q (Q32964959): missense mutation (Q2656896), transcript fusion (Q28419128)
• ABL1 BCR::ABL F359I (Q32965008): missense mutation (Q2656896), transcript fusion (Q28419128)
• ABL1 BCR::ABL F317V (Q32965015): missense mutation (Q2656896), transcript fusion (Q28419128)
• ABL1 BCR::ABL F311L (Q32965028): missense mutation (Q2656896), transcript fusion (Q28419128)
• ABL1 BCR::ABL N331S (Q32965032): missense mutation (Q2656896), transcript fusion (Q28419128)
• BRCA1 W1815X (Q32965138): Stop Gained (Q28371788)
• SMO L412F (Q32965188): sequence variant (Q15304597)
• EGFR W731L (Q32965192): missense mutation (Q2656896)
• EGFR Y801H (Q32965204): missense mutation (Q2656896)
• ABL1 BCR::ABL F317I (Q32965379): missense mutation (Q2656896), transcript fusion (Q28419128)
• MAP2K1 E203K (Q32965382): sequence variant (Q15304597)
• BRAF G596R (Q32965386): missense mutation (Q2656896)
• PIK3CA D350G (Q32965495): missense mutation (Q2656896)
• ABL1 R351W (Q32965503): missense mutation (Q2656896)
• ACVR1 G328V (Q32965621): missense mutation (Q2656896)
• TP53 R158H (Q32965666): missense mutation (Q2656896)
• TP53 R158L (Q32965679): missense mutation (Q2656896)
• VHL E52K (c.154G>A) (Q32965688): missense mutation (Q2656896)
• VHL L158P (c.473T>C) (Q32965704): missense mutation (Q2656896)
• VHL R167Q (c.500G>A) (Q32965709): missense mutation (Q2656896)
• VHL Y98H (c.292T>C) (Q32965717): missense mutation (Q2656896)
• VHL H115Q (c.345C>A) (Q32965720): missense mutation (Q2656896)
• VHL F119L (c.357C>G) (Q32965724): missense mutation (Q2656896)
• VHL A149T (c.445G>A) (Q32965726): missense mutation (Q2656896)
• VHL T157I (c.470C>T) (Q32965730): missense mutation (Q2656896)
• VHL R161Q (c.482G>A) (Q32965734): missense mutation (Q2656896)
• VHL R167W (c.499C>T) (Q32965738): missense mutation (Q2656896)
• VHL L178P (c.533T>C) (Q32965742): missense mutation (Q2656896)
• VHL V62fs (c.180del) (Q32965748): Minus 1 Frameshift Variant (Q28419135)
• VHL Q73* (c.217C>T) (Q32965756): Stop Gained (Q28371788)
• VHL N78H (c.232A>C) (Q32965762): missense mutation (Q2656896)
• VHL N78S (c.233A>G) (Q32965766): missense mutation (Q2656896)
• VHL N78T (c.233A>C) (Q32965770): missense mutation (Q2656896)
• VHL S80I (c.239G>T) (Q32965774): missense mutation (Q2656896)
• VHL P86A (c.256C>G) (Q32965780): missense mutation (Q2656896)
• VHL P86L (c.257C>T) (Q32965784): missense mutation (Q2656896)
• VHL W88R (c.262T>A) (Q32965787): missense mutation (Q2656896)
• VHL S111N (c.332G>A) (Q32965794): missense mutation (Q2656896)
• VHL S111R (c.333C>G) (Q32965797): missense mutation (Q2656896)
• VHL W117C (c.351G>T) (Q32965809): missense mutation (Q2656896)
• VHL P154fs (c.462delA) (Q32965822): Frameshift Truncation (Q28371705)
• VHL C162R (c.484T>C) (Q32965825): missense mutation (Q2656896)
• VHL C162F (c.485G>T) (Q32965828): missense mutation (Q2656896)
• VHL C162W (c.486C>G) (Q32965832): missense mutation (Q2656896)
• VHL V166D (c.497T>A) (Q32965834): missense mutation (Q2656896)
• VHL L184P (c.551T>C) (Q32965837): missense mutation (Q2656896)
• VHL E186* (c.556G>T) (Q32965841): Stop Gained (Q28371788)
• VHL E186K (c.556G>A) (Q32965845): missense mutation (Q2656896)
• VHL R176fs (c.526del) (Q32965850): Frameshift Truncation (Q28371705)
• VHL P154L (c.461C>T) (Q32965856): missense mutation (Q2656896)
• VHL S183* (c.548C>A) (Q32965863): Stop Gained (Q28371788)
• VHL S65W (c.194C>G) (Q32965874): missense mutation (Q2656896)
• VHL S65L (c.194C>T) (Q32965878): missense mutation (Q2656896)
• VHL L89P (c.266T>C) (Q32965892): missense mutation (Q2656896)
• VHL E94* (c.280G>T) (Q32965896): Stop Gained (Q28371788)
• VHL R113* (c.337C>T) (Q32965904): Stop Gained (Q28371788)
• VHL L118P (c.353T>C) (Q32965912): missense mutation (Q2656896)
• VHL F136S (c.407T>C) (Q32965921): missense mutation (Q2656896)
• VHL L158V (c.472C>G) (Q32965927): missense mutation (Q2656896)
• VHL R161* (c.481C>T) (Q32965931): missense mutation (Q2656896)
• VHL I180V (c.538A>G) (Q32965941): missense mutation (Q2656896)
• VHL Y185* (c.555C>G) (Q32965948): Stop Gained (Q28371788)
• VHL Q195* (c.583C>T) (Q32965952): Stop Gained (Q28371788)
• VHL S65* (c.194C>A) (Q32965956): Stop Gained (Q28371788)
• VHL D121G (c.362A>G) (Q32965961): missense mutation (Q2656896)
• VHL F136C (c.407T>G) (Q32965965): missense mutation (Q2656896)
• VHL V84L (c.250G>T) (Q32965968): missense mutation (Q2656896)
• VHL C162Y (c.485G>A) (Q32965995): missense mutation (Q2656896)
• VHL V166F (c.496G>T) (Q32965999): missense mutation (Q2656896)
• VHL V170D (c.509T>A) (Q32966003): missense mutation (Q2656896)
• VHL R177* (c.529A>T) (Q32966007): Stop Gained (Q28371788)
• VHL E70* (c.208G>T) (Q32966027): Stop Gained (Q28371788)
• VHL F76S (c.227T>C) (Q32966030): missense mutation (Q2656896)
• VHL L188V (c.562C>G) (Q32966033): missense mutation (Q2656896)
• VHL P81S (c.241C>T) (Q32966037): missense mutation (Q2656896)
• VHL T105P (c.313A>C) (Q32966043): missense mutation (Q2656896)
• VHL R107P (c.320G>C) (Q32966047): missense mutation (Q2656896)
• VHL L118fs (c.352_353insA) (Q32966048): Plus 1 Frameshift Variant (Q28381736)
• VHL Q164* (c.490C>T) (Q32966060): Stop Gained (Q28371788)
• VHL V181fs (c.540_543del) (Q32966067): Minus 1 Frameshift Variant (Q28419135), Frameshift Truncation (Q28371705)
• VHL Q96* (c.286C>T) (Q32966071): Stop Gained (Q28371788)
• VHL P86R (c.257C>G) (Q32966075): missense mutation (Q2656896)
• VHL G144* (c.430G>T) (Q32966077): Stop Gained (Q28371788)
• VHL L188P (c.563T>C) (Q32966084): missense mutation (Q2656896)
• VHL Q164R (c.491A>G) (Q42786624): missense mutation (Q2656896)
• VHL G114R (c.340G>C) (Q42786626): missense mutation (Q2656896)
• VHL Y112H (c.334T>C) (Q42786628): missense mutation (Q2656896)
• VHL S80N (c.239G>A) (Q42786632): missense mutation (Q2656896)
• VHL H115P (c.344A>C) (Q42786641): missense mutation (Q2656896)
• VHL L169P (c.506T>C) (Q42786643): missense mutation (Q2656896)
• VHL L178R (c.533T>G) (Q42786644): missense mutation (Q2656896)
• VHL P86S (c.256C>T) (Q42786651): missense mutation (Q2656896)
• VHL S65P (c.193T>C) (Q42786652): missense mutation (Q2656896)
• VHL S72P (c.214T>C) (Q42786653): missense mutation (Q2656896)
• VHL W88* (c.264G>A) (Q42786659): Stop Gained (Q28371788)
• VHL K196* (c.586A>T) (Q42786667): Stop Gained (Q28371788)
• VHL R161G (c.481C>G) (Q42786669): missense mutation (Q2656896)
• VHL G93R (c.277G>C) (Q42786671): missense mutation (Q2656896)
• VHL H115Y (c.343C>T) (Q42786673): missense mutation (Q2656896)
• VHL Y156C (c.467A>G) (Q42786685): missense mutation (Q2656896)
• VHL N131K (c.393C>A) (Q42786688): missense mutation (Q2656896)
• VHL E70K (c.208G>A) (Q42786693): missense mutation (Q2656896)
• VHL H115Q (c.345C>G) (Q42786695): missense mutation (Q2656896)
• VHL S80R (c.238A>C) (Q42786703): missense mutation (Q2656896)
• VHL W88S (c.263G>C) (Q42786705): missense mutation (Q2656896)
• VHL Y175* (c.525C>G) (Q42786709): Stop Gained (Q28371788)
• VHL V130L (c.388G>C) (Q42786710): missense mutation (Q2656896)
• VHL *214L (c.641G>T) (Q42786716): Stop Lost (Q28419141)
• VHL *214W (c.642A>G) (Q42786717): Stop Lost (Q28419141)
• VHL Q132* (c.394C>T) (Q42786723): Stop Gained (Q28371788)
• VHL L129fs (c.384delT) (Q42786725): Frameshift Variant (Q28419131)
• VHL L178Q (c.533T>A) (Q42786726): missense mutation (Q2656896)
• VHL Splice Site (c.463+1G>C) (Q42786729): Splice Donor Variant (Q29937349)
• VHL V74G (c.221T>G) (Q42786731): missense mutation (Q2656896)
• VHL H115R (c.344A>G) (Q42786733): missense mutation (Q2656896)
• VHL L85P (c.254T>C) (Q42786743): missense mutation (Q2656896)
• VHL 3'UTR alteration (c.639+10C>G) (Q42786750): 3 Prime UTR Variant (Q28419124)
• VHL C162fs (c.483del) (Q42786758): Frameshift Truncation (Q28371705), Minus 1 Frameshift Variant (Q28419135)
• DICER1 E1705K (Q42786766): missense mutation (Q2656896)
• VHL W88* (c.263G>A) (Q42786837): Stop Gained (Q28371788)
• VHL Splice Site (c.464-1G>A) (Q42868285): splice acceptor variant (Q42866965)
• VHL Splice Site (c.464-2A>T) (Q42868293): splice acceptor variant (Q42866965)
• VHL Splice Site (c.464-1G>C) (Q42868323): splice acceptor variant (Q42866965)
• VHL Splice Site (c.464-2A>G) (Q42868324): splice acceptor variant (Q42866965)
• EGFR L747P (Q44847109): missense mutation (Q2656896)
• EGFR V774M (Q44847114): missense mutation (Q2656896)
• EGFR K806E (Q44847115): missense mutation (Q2656896)
• VHL R167L (c.500G>T) (Q47490829): missense mutation (Q2656896)
• VHL L188R (c.563T>G) (Q47490833): missense mutation (Q2656896)
• BRAF N581S (Q50092413): missense mutation (Q2656896)
• VHL Splice Site (c.464-1G>T) (Q50092729): splice acceptor variant (Q42866965)
• VHL N78I (c.233A>T) (Q50092752): missense mutation (Q2656896)
• VHL W88R (c.262T>C) (Q50092769): missense mutation (Q2656896)
• VHL H115fs (c.344del) (Q50092770): Frameshift Truncation (Q28371705), Minus 1 Frameshift Variant (Q28419135)
• BRAF G466V (Q50092868): missense mutation (Q2656896)
• BRAF G606E (Q50092870): missense mutation (Q2656896)
• VHL Q145* (c.433C>T) (Q52159599): Stop Gained (Q28371788)
• VHL N150S (c.449A>G) (Q52159603): missense mutation (Q2656896)
• BRAF G469E (Q56240908): missense mutation (Q2656896)
• VHL G93S (c.277G>A) (Q56240929): missense mutation (Q2656896)
• VHL L188Q (c.563T>A) (Q56240930): missense mutation (Q2656896)
• VHL R64P (c.191G>C) (Q56240934): missense mutation (Q2656896)
• VHL E189fs (c.565del) (Q56240935): Minus 1 Frameshift Variant (Q28419135), Frameshift Truncation (Q28371705)
• VHL I151T (c.452T>C) (Q56240936): missense mutation (Q2656896)
• VHL *214C (c.642A>T) (Q56240949): Stop Lost (Q28419141)
• VHL R107G (c.319C>G) (Q56240951): missense mutation (Q2656896)
• VHL G93C (c.277G>T) (Q56240952): missense mutation (Q2656896)
• VHL G93V (c.278G>T) (Q56240953): missense mutation (Q2656896)
• VHL S65A (c.193T>G) (Q56240955): missense mutation (Q2656896)
• VHL G114S (c.340G>A) (Q56240959): missense mutation (Q2656896)
• DICER1 E1813Q (Q56240967): missense mutation (Q2656896)
• VHL Splice Site (c.340+1G>A) (Q56240972): Splice Donor Variant (Q29937349)
• VHL Splicing alteration (c.463+8C>T) (Q56241002):
• ABL1 BCR::ABL T315A (Q56241008): missense mutation (Q2656896), transcript fusion (Q28419128)
• ABL1 BCR::ABL F317C (Q56241017): missense mutation (Q2656896), transcript fusion (Q28419128)
• ABL1 BCR::ABL E459K (Q56241028): missense mutation (Q2656896), transcript fusion (Q28419128)
• CSF3R T618I (Q56241033): missense mutation (Q2656896)
• VHL R120G (c.358A>G) (Q59820114): missense mutation (Q2656896)
• VHL S111C (c.331A>T) (Q59820144): missense mutation (Q2656896)
• VHL R167P (c.500G>C) (Q59820259): missense mutation (Q2656896)
• VHL Y98C (c.293A>G) (Q61818909): missense mutation (Q2656896)
• NM_000277.2(PAH):c.1A>G (p.Met1Val) (Q64401263): sequence variant (Q15304597)
• KIT A829P (Q66084447): missense mutation (Q2656896)
• VHL V166A (c.497T>C) (Q92590534): missense mutation (Q2656896)
• TP53 C238Y (Q92590985): missense mutation (Q2656896)
• APOE e4 (Q96781931): single-nucleotide polymorphism (Q501128)
• VHL R82P (c.245G>C) (Q97619928): missense mutation (Q2656896)
• VHL G104A (c.311G>C) (Q97619942): missense mutation (Q2656896)
• M175 (Q99306325): deletion mutation (Q656732)
• M8 (Q99306375): single-nucleotide polymorphism (Q501128)
• M105 (Q99306390): single-nucleotide polymorphism (Q501128)
• M145 (Q99485302): single-nucleotide polymorphism (Q501128)
• BCL2 G101V (Q99542833): missense mutation (Q2656896)
• VHL Splice Region (c.340+5G>C) (Q102213449): Intron Variant (Q28419129)
• VHL L128F (c.382C>T) (Q102214151): missense mutation (Q2656896)
• PIK3CA R88Q (Q104539001): missense mutation (Q2656896)
• VHL G104V (c.311G>T) (Q104539181): missense mutation (Q2656896)
• VHL Y175C (c.524A>G) (Q105026717): missense mutation (Q2656896)
• VHL V84M (c.250G>A) (Q105026722): missense mutation (Q2656896)
• VHL Splice Site (c.463+2T>C) (Q105668976): Splice Donor Variant (Q29937349)
• TP53 A161T (Q106942551): missense mutation (Q2656896)
• KRAS R164Q (Q106942558): missense mutation (Q2656896)
• EGFR R222C (Q107522016): missense mutation (Q2656896)
• EZH2 Y646H (Q107522019):
• ACVR1 G328W (Q110649106): missense mutation (Q2656896)
• EGFR G598V (Q111398816): missense mutation (Q2656896)
• rs1800734 (Q111904774): single-nucleotide polymorphism (Q501128)
• Hemoglobin Fontainebleau (Q124301602): hemoglobin variant (Q17022368)
• hemoglobin Antananarivo (Q124305529): hemoglobin variant (Q17022368)
• hemoglobin Barbizon (Q124306580): hemoglobin variant (Q17022368)

Types statistics

Accepted	Type	Usage
No	missense mutation (Q2656896)	406
No	transcript fusion (Q28419128)	39
No	Stop Gained (Q28371788)	31
No	sequence variant (Q15304597)	22
No	single-nucleotide polymorphism (Q501128)	17
No	Frameshift Truncation (Q28371705)	11
No	Polymorphic Sequence Variant (Q28419136)	7
No	Synonymous Variant (Q28419125)	6
No	Minus 1 Frameshift Variant (Q28419135)	6
No	Gain Of Function Variant (Q28371786)	6
No	splice acceptor variant (Q42866965)	5
No	Splice Donor Variant (Q29937349)	5
No	Inframe Deletion (Q28371783)	4
No	3 Prime UTR Variant (Q28419124)	4
No	hemoglobin variant (Q17022368)	3
No	Frameshift Variant (Q28419131)	3
No	Coding Transcript Intron Variant (Q28419134)	3
No	Stop Lost (Q28419141)	3
No	Regulatory Region Variant (Q28381988)	2
No	Protein Altering Variant (Q27907087)	2
No	Intron Variant (Q28419129)	2
No	deletion mutation (Q656732)	1
No	genetic polymorphism (Q3395645)	1
No	Start Lost (Q29938065)	1
No	5 Prime UTR Exon Variant (Q28419138)	1
No	loss of heterozygosity (Q2617554)	1
No	Nonsynonymous Variant (Q27905684)	1
No	inframe variant (Q28419132)	1
Yes	single nucleotide variant (Q111907054)	1
No	Plus 1 Frameshift Variant (Q28381736)	1
No	Loss Of Function Variant (Q27907094)	1
No	5 Prime UTR Variant (Q27919343)	1

"Entity types" violations

Violations count: 0

"Scope" violations

Violations count: 0