UBE2S
Mutation - TCGA
TypeChromosomeStart PositionEnd PositionStrandVariant ClassificationVariant TypeReference AlleleTumor_seq Allele 1Tumor_seq Allele 2Tumor Sample BarcodeMatched Norm Sample BarcodeGenome ChangecDNA ChangeCodon ChangeProtein Change
BLCA195591293655912936+SilentSNPGGATCGA-DK-A1AC-01A-11D-A13W-08TCGA-DK-A1AC-10A-01D-A13W-08g.chr19:55912936G>Ac.537C>Tc.(535-537)tcC>tcTp.S179S
BLCA195591573055915730+Missense_MutationSNPCCATCGA-FJ-A3ZE-01A-11D-A23M-08TCGA-FJ-A3ZE-10A-01D-A23K-08g.chr19:55915730C>Ac.268G>Tc.(268-270)Gcc>Tccp.A90S
BLCA195591821155918211+SilentSNPGGTTCGA-FD-A6TH-01A-11D-A32B-08TCGA-FD-A6TH-10A-01D-A329-08g.chr19:55918211G>Tc.123C>Ac.(121-123)acC>acAp.T41T
BLCA195591822555918225+Missense_MutationSNPCCTTCGA-E5-A4U1-01A-11D-A31L-08TCGA-E5-A4U1-10B-01D-A31J-08g.chr19:55918225C>Tc.109G>Ac.(109-111)Gag>Aagp.E37K
BLCA195591827455918274+SilentSNPCCATCGA-H4-A2HQ-01A-11D-A17V-08TCGA-H4-A2HQ-10A-01D-A17V-08g.chr19:55918274C>Ac.60G>Tc.(58-60)gtG>gtTp.V20V
BLCA195591827455918274+SilentSNPCCTTCGA-ZF-AA4X-01A-11D-A38G-08TCGA-ZF-AA4X-10A-01D-A38J-08g.chr19:55918274C>Tc.60G>Ac.(58-60)gtG>gtAp.V20V
COAD195591573855915738+Missense_MutationSNPTTCTCGA-AA-3510-01A-01D-1408-10TCGA-AA-3510-11A-01D-1408-10g.chr19:55915738T>Cc.260A>Gc.(259-261)aAc>aGcp.N87S
COADREAD195591573855915738+Missense_MutationSNPTTCTCGA-AA-3510-01A-01D-1408-10TCGA-AA-3510-11A-01D-1408-10g.chr19:55915738T>Cc.260A>Gc.(259-261)aAc>aGcp.N87S
HNSC195591568455915684+Missense_MutationSNPGGATCGA-F7-A624-01A-22D-A30E-08TCGA-F7-A624-10A-01D-A30H-08g.chr19:55915684G>Ac.314C>Tc.(313-315)gCt>gTtp.A105V
HNSC195591577355915773+SilentSNPGGATCGA-CR-7388-01A-11D-2012-08TCGA-CR-7388-10A-01D-2013-08g.chr19:55915773G>Ac.225C>Tc.(223-225)ccC>ccTp.P75P
HNSC195591580255915802+SilentSNPGGATCGA-F7-7848-01A-11D-2129-08TCGA-F7-7848-10A-01D-2129-08g.chr19:55915802G>Ac.196C>Tc.(196-198)Ctg>Ttgp.L66L
LUAD195591289555912895+Missense_MutationSNPCCTTCGA-55-6985-01A-11D-1945-08TCGA-55-6985-11A-01D-1945-08g.chr19:55912895C>Tc.578G>Ac.(577-579)gGt>gAtp.G193D
LUAD195591829755918297+Missense_MutationSNPTTATCGA-69-7765-01A-11D-2167-08TCGA-69-7765-10A-01D-2167-08g.chr19:55918297T>Ac.37A>Tc.(37-39)Atc>Ttcp.I13F
LUSC195591292155912921+SilentSNPGGTTCGA-18-3419-01A-01D-0983-08TCGA-18-3419-11A-01D-0983-08g.chr19:55912921G>Tc.552C>Ac.(550-552)gcC>gcAp.A184A
PAAD195591300055913000+Missense_MutationSNPGGATCGA-IB-7651-01A-11D-2154-08TCGA-IB-7651-10A-01D-2154-08g.chr19:55913000G>Ac.473C>Tc.(472-474)gCc>gTcp.A158V
PRAD195591827055918270+Missense_MutationSNPTTCTCGA-HC-A9TE-01A-11D-A41K-08TCGA-HC-A9TE-10A-01D-A41N-08g.chr19:55918270T>Cc.64A>Gc.(64-66)Aca>Gcap.T22A
SKCM195591290555912905+Missense_MutationSNPCCTTCGA-D3-A1Q6-06A-11D-A196-08TCGA-D3-A1Q6-10A-01D-A198-08g.chr19:55912905C>Tc.568G>Ac.(568-570)Ggg>Aggp.G190R
SKCM195591307055913070+Missense_MutationSNPGGATCGA-EE-A3AC-06A-11D-A196-08TCGA-EE-A3AC-10A-01D-A198-08g.chr19:55913070G>Ac.403C>Tc.(403-405)Cgc>Tgcp.R135C
SKCM195591307155913071+SilentSNPGGTTCGA-EE-A3AC-06A-11D-A196-08TCGA-EE-A3AC-10A-01D-A198-08g.chr19:55913071G>Tc.402C>Ac.(400-402)ggC>ggAp.G134G
SKCM195591308355913083+SilentSNPGGATCGA-EE-A3AF-06A-11D-A196-08TCGA-EE-A3AF-10A-01D-A198-08g.chr19:55913083G>Ac.390C>Tc.(388-390)aaC>aaTp.N130N
Mutation - ICGC
Project CodeChromosomeChromosome StartChromosome EndMutation TypeMutated from AlleleMutated to AlleleConsequence TypeAA MutationCDS Mutation
BLCA-CN195591574155915741single base substitutionGAmissense_variantP86L257C>T
BLCA-CN195591574155915741single base substitutionGAsynonymous_variantP60P180C>T
BLCA-CN195591574155915741single base substitutionGAupstream_gene_variant
BLCA-US195591293655912936single base substitutionGAdownstream_gene_variant
BLCA-US195591293655912936single base substitutionGAsynonymous_variantS179S537C>T
BLCA-US195591573055915730single base substitutionCAmissense_variantA90S268G>T
BLCA-US195591573055915730single base substitutionCAmissense_variantR64L191G>T
BLCA-US195591573055915730single base substitutionCAupstream_gene_variant
BLCA-US195591827455918274single base substitutionCAsynonymous_variantV20V60G>T
BLCA-US195591827455918274single base substitutionCAupstream_gene_variant
BOCA-FR195591774355917743single base substitutionCTintron_variant
BOCA-FR195591774355917743single base substitutionCTupstream_gene_variant
BRCA-EU195590837055908370single base substitutionCGdownstream_gene_variant
BRCA-EU195590925555909255single base substitutionCGdownstream_gene_variant
BRCA-EU195591027155910271single base substitutionCTdownstream_gene_variant
BRCA-EU195591041155910411single base substitutionACdownstream_gene_variant
BRCA-EU195591110755911107single base substitutionCTdownstream_gene_variant
BRCA-EU195591126055911260single base substitutionTGdownstream_gene_variant
BRCA-EU195591165555911655single base substitutionGAdownstream_gene_variant
BRCA-EU195591295855912958single base substitutionGTdownstream_gene_variant
BRCA-EU195591295855912958single base substitutionGTmissense_variantA172D515C>A
BRCA-EU195591295855912958single base substitutionGTmissense_variantA201D602C>A
BRCA-EU195591329855913298single base substitutionCGdownstream_gene_variant
BRCA-EU195591329855913298single base substitutionCGintron_variant
BRCA-EU195591371055913710single base substitutionGCdownstream_gene_variant
BRCA-EU195591371055913710single base substitutionGCintron_variant
BRCA-EU195591912855919128single base substitutionGA5_prime_UTR_variant
BRCA-EU195591912855919128single base substitutionGAupstream_gene_variant
BRCA-EU195592175955921759single base substitutionTGupstream_gene_variant
BRCA-EU195592325055923250single base substitutionGTupstream_gene_variant
BRCA-FR195590925555909255single base substitutionCGdownstream_gene_variant
BRCA-FR195591371055913710single base substitutionGCdownstream_gene_variant
BRCA-FR195591371055913710single base substitutionGCintron_variant
BTCA-JP195591885655918856single base substitutionCGintron_variant
BTCA-JP195591885655918856single base substitutionCGupstream_gene_variant
CLLE-ES195591404855914048single base substitutionCGdownstream_gene_variant
CLLE-ES195591404855914048single base substitutionCGintron_variant
COCA-CN195591310555913105single base substitutionGT3_prime_UTR_variant
COCA-CN195591310555913105single base substitutionGTdownstream_gene_variant
COCA-CN195591310555913105single base substitutionGTmissense_variantP123H368C>A
COCA-CN195591310555913105single base substitutionGTmissense_variantP152H455C>A
ESAD-UK195590960955909609single base substitutionGCdownstream_gene_variant
ESAD-UK195591052555910529deletion of <=200bpTTTTC-downstream_gene_variant
ESAD-UK195591204855912048single base substitutionCTdownstream_gene_variant
ESAD-UK195591459155914591single base substitutionTGdownstream_gene_variant
ESAD-UK195591459155914591single base substitutionTGintron_variant
ESAD-UK195591688555916885insertion of <=200bp-Gintron_variant
ESAD-UK195591688555916885insertion of <=200bp-Gupstream_gene_variant
ESAD-UK195591829355918293single base substitutionCAmissense_variantR14L41G>T
ESAD-UK195591829355918293single base substitutionCAupstream_gene_variant
ESAD-UK195592040655920406single base substitutionCTupstream_gene_variant
ESAD-UK195592318555923185single base substitutionTCupstream_gene_variant
ESAD-UK195592413755924137single base substitutionCTupstream_gene_variant
KIRP-US195591303555913035single base substitutionAGdownstream_gene_variant
KIRP-US195591303555913035single base substitutionAGsynonymous_variantA146A438T>C
KIRP-US195591303555913035single base substitutionAGsynonymous_variantA175A525T>C
LAML-KR195591303855913038single base substitutionCTdownstream_gene_variant
LAML-KR195591303855913038single base substitutionCTsynonymous_variantA145A435G>A
LAML-KR195591303855913038single base substitutionCTsynonymous_variantA174A522G>A
LICA-CN195591574155915741single base substitutionGAmissense_variantP86L257C>T
LICA-CN195591574155915741single base substitutionGAsynonymous_variantP60P180C>T
LICA-CN195591574155915741single base substitutionGAupstream_gene_variant
LIHC-US195591829455918294single base substitutionGAmissense_variantR14C40C>T
LIHC-US195591829455918294single base substitutionGAupstream_gene_variant
LINC-JP195591102055911020single base substitutionCGdownstream_gene_variant
LINC-JP195591970655919706single base substitutionATupstream_gene_variant
LIRI-JP195592054055920540single base substitutionGAupstream_gene_variant
LIRI-JP195592229255922292single base substitutionCTupstream_gene_variant
LIRI-JP195592343455923434single base substitutionTAupstream_gene_variant
LUSC-KR195592269155922691single base substitutionCTupstream_gene_variant
LUSC-KR195592269955922699single base substitutionCTupstream_gene_variant
LUSC-US195591292155912921single base substitutionGTdownstream_gene_variant
LUSC-US195591292155912921single base substitutionGTsynonymous_variantA184A552C>A
MALY-DE195591573055915730single base substitutionCTmissense_variantA90T268G>A
MALY-DE195591573055915730single base substitutionCTmissense_variantR64H191G>A
MALY-DE195591573055915730single base substitutionCTupstream_gene_variant
MALY-DE195592365655923656single base substitutionAGupstream_gene_variant
MELA-AU195590865655908656single base substitutionTCdownstream_gene_variant
MELA-AU195590923755909237single base substitutionAGdownstream_gene_variant
MELA-AU195591002255910022single base substitutionCTdownstream_gene_variant
MELA-AU195591032755910327single base substitutionCTdownstream_gene_variant
MELA-AU195591116155911161single base substitutionGAdownstream_gene_variant
MELA-AU195591191055911910single base substitutionGAdownstream_gene_variant
MELA-AU195591324555913245single base substitutionGAdownstream_gene_variant
MELA-AU195591324555913245single base substitutionGAintron_variant
MELA-AU195591613655916136single base substitutionGAintron_variant
MELA-AU195591613655916136single base substitutionGAupstream_gene_variant
MELA-AU195591646055916460single base substitutionCTintron_variant
MELA-AU195591646055916460single base substitutionCTupstream_gene_variant
MELA-AU195591667355916673single base substitutionCTintron_variant
MELA-AU195591667355916673single base substitutionCTupstream_gene_variant
MELA-AU195591897455918975multiple base substitution (>=2bp and <=200bp)GGAA5_prime_UTR_variant
MELA-AU195591897455918975multiple base substitution (>=2bp and <=200bp)GGAAupstream_gene_variant
MELA-AU195591922355919224multiple base substitution (>=2bp and <=200bp)CCTTupstream_gene_variant
MELA-AU195591923155919231single base substitutionCTupstream_gene_variant
MELA-AU195591923455919234single base substitutionCTupstream_gene_variant
MELA-AU195591926655919266single base substitutionCTupstream_gene_variant
MELA-AU195591941555919415single base substitutionGAupstream_gene_variant
MELA-AU195591956055919561multiple base substitution (>=2bp and <=200bp)GGAAupstream_gene_variant
MELA-AU195591959255919592single base substitutionGAupstream_gene_variant
MELA-AU195592133355921333single base substitutionGAupstream_gene_variant
MELA-AU195592138755921387single base substitutionGAupstream_gene_variant
MELA-AU195592170055921700single base substitutionTAupstream_gene_variant
MELA-AU195592249555922495single base substitutionCTupstream_gene_variant
MELA-AU195592271855922718single base substitutionATupstream_gene_variant
MELA-AU195592275555922755single base substitutionCTupstream_gene_variant
MELA-AU195592277155922771single base substitutionCTupstream_gene_variant
MELA-AU195592363255923632single base substitutionATupstream_gene_variant
MELA-AU195592380855923808single base substitutionGAupstream_gene_variant
MELA-AU195592393255923932single base substitutionGAupstream_gene_variant
OV-AU195591306955913069single base substitutionCTdownstream_gene_variant
OV-AU195591306955913069single base substitutionCTmissense_variantR135H404G>A
OV-AU195591306955913069single base substitutionCTmissense_variantR164H491G>A
OV-AU195591790955917909single base substitutionCAintron_variant
OV-AU195591790955917909single base substitutionCAupstream_gene_variant
OV-AU195591943955919439single base substitutionCTupstream_gene_variant
PACA-AU195591349655913496single base substitutionCTdownstream_gene_variant
PACA-AU195591349655913496single base substitutionCTintron_variant
PACA-AU195591411355914113single base substitutionGAdownstream_gene_variant
PACA-AU195591411355914113single base substitutionGAintron_variant
PACA-AU195591595455915954single base substitutionCTintron_variant
PACA-AU195591595455915954single base substitutionCTupstream_gene_variant
PACA-AU195591866955918669single base substitutionCTintron_variant
PACA-AU195591866955918669single base substitutionCTupstream_gene_variant
PACA-AU195591898155918981single base substitutionTG5_prime_UTR_variant
PACA-AU195591898155918981single base substitutionTGupstream_gene_variant
PACA-AU195592392555923925deletion of <=200bpA-upstream_gene_variant
PACA-CA195590995755909957single base substitutionCAdownstream_gene_variant
PACA-CA195590995955909959single base substitutionTAdownstream_gene_variant
PACA-CA195591047255910472single base substitutionCTdownstream_gene_variant
PACA-CA195591151055911510single base substitutionGTdownstream_gene_variant
PACA-CA195591151155911511single base substitutionATdownstream_gene_variant
PACA-CA195591299555912995single base substitutionCTdownstream_gene_variant
PACA-CA195591299555912995single base substitutionCTmissense_variantG160R478G>A
PACA-CA195591299555912995single base substitutionCTmissense_variantG189R565G>A
PACA-CA195591549155915491single base substitutionGCexon_variant
PACA-CA195591549155915491single base substitutionGCintron_variant
PACA-CA195591549155915491single base substitutionGCmissense_variantQ123E367C>G
PACA-CA195591552955915529single base substitutionTCintron_variant
PACA-CA195591552955915529single base substitutionTCupstream_gene_variant
PACA-CA195591674755916747single base substitutionCAintron_variant
PACA-CA195591674755916747single base substitutionCAupstream_gene_variant
PAEN-AU195590917055909170single base substitutionTGdownstream_gene_variant
PBCA-DE195590891555908915deletion of <=200bpT-downstream_gene_variant
PRAD-CA195591773755917737single base substitutionGCintron_variant
PRAD-CA195591773755917737single base substitutionGCupstream_gene_variant
PRAD-UK195590874055908740single base substitutionGAdownstream_gene_variant
PRAD-UK195592217955922179single base substitutionGTupstream_gene_variant
SKCA-BR195591134155911341single base substitutionGAdownstream_gene_variant
SKCA-BR195591270355912703single base substitutionAC3_prime_UTR_variant
SKCA-BR195591270355912703single base substitutionACdownstream_gene_variant
SKCA-BR195591561055915610single base substitutionCTintron_variant
SKCA-BR195591561055915610single base substitutionCTupstream_gene_variant
SKCA-BR195591933255919332single base substitutionTGupstream_gene_variant
SKCA-BR195591941955919419single base substitutionGAupstream_gene_variant
SKCA-BR195591957755919577single base substitutionTGupstream_gene_variant
SKCA-BR195592296355922963single base substitutionGAupstream_gene_variant
SKCM-US195591290555912905single base substitutionCTdownstream_gene_variant
SKCM-US195591290555912905single base substitutionCTmissense_variantG190R568G>A
SKCM-US195591308355913083single base substitutionGA3_prime_UTR_variant
SKCM-US195591308355913083single base substitutionGAdownstream_gene_variant
SKCM-US195591308355913083single base substitutionGAsynonymous_variantN130N390C>T
SKCM-US195591308355913083single base substitutionGAsynonymous_variantN159N477C>T
STAD-US195591584755915847single base substitutionCGintron_variant
STAD-US195591584755915847single base substitutionCGsplice_acceptor_variant
STAD-US195591584755915847single base substitutionCGupstream_gene_variant
STAD-US195591822655918226single base substitutionGAsynonymous_variantN36N108C>T
STAD-US195591822655918226single base substitutionGAupstream_gene_variant
THCA-SA195591294655912946single base substitutionTGdownstream_gene_variant
THCA-SA195591294655912946single base substitutionTGmissense_variantE176A527A>C
THCA-SA195591922955919229single base substitutionCTupstream_gene_variant
Mutation - COSMIC
Sample NameMutation IDMutation CDSMutation AAMutation DescriptionMutation Genome PositionMutation Strand
TCGA-H4-A2HQ-01COSM1305135c.60G>Tp.V20VSubstitution - coding silent19:55406906-55406906-
HCC092TCOSM2968787c.257C>Tp.P86LSubstitution - Missense19:55404373-55404373-
LUAD-RT-S01700COSM378717c.554C>Tp.P185LSubstitution - Missense19:55401551-55401551-
tumor_4112447COSM5948397c.268G>Ap.A90TSubstitution - Missense19:55404362-55404362-
AOCS-137-3-7COSM4127907c.404G>Ap.R135HSubstitution - Missense19:55401701-55401701-
T2197COSM4738710c.391G>Ap.E131KSubstitution - Missense19:55401714-55401714-
TCGA-EQ-A4SO-01COSM4081566c.152-1G>Cp.?Unknown19:55404479-55404479-
587284COSM1231557c.89G>Ap.G30DSubstitution - Missense19:55406877-55406877-
TCGA-DK-A1AC-01COSM1305134c.537C>Tp.S179SSubstitution - coding silent19:55401568-55401568-
TCGA-D3-A1Q6-06COSM3539451c.568G>Ap.G190RSubstitution - Missense19:55401537-55401537-
ESCC_134COSM5642775c.164A>Gp.Y55CSubstitution - Missense19:55404466-55404466-
LIM2405COSM4642370c.487G>Tp.G163CSubstitution - Missense19:55401618-55401618-
CN-AML-CR-46-DxCOSM4132618c.435G>Ap.A145ASubstitution - coding silent19:55401670-55401670-
TCGA-CG-5721-01COSM4081567c.108C>Tp.N36NSubstitution - coding silent19:55406858-55406858-
PTC-10CCOSM4132618c.435G>Ap.A145ASubstitution - coding silent19:55401670-55401670-
sysucc-834TCOSM5486086c.368C>Ap.P123HSubstitution - Missense19:55401737-55401737-
TCGA-18-3419-01COSM714631c.552C>Ap.A184ASubstitution - coding silent19:55401553-55401553-
TCGA-EE-A3AF-06COSM2968782c.390C>Tp.N130NSubstitution - coding silent19:55401715-55401715-
6115250COSM5555777c.173G>Ap.G58DSubstitution - Missense19:55404457-55404457-
TCGA-FJ-A3ZE-01COSM3797556c.268G>Tp.A90SSubstitution - Missense19:55404362-55404362-
Detroit_562COSM4132618c.435G>Ap.A145ASubstitution - coding silent19:55401670-55401670-
B86-TumorCOSM2968787c.257C>Tp.P86LSubstitution - Missense19:55404373-55404373-
SCC-9COSM4597473c.527A>Cp.E176ASubstitution - Missense19:55401578-55401578-
TCGA-06-0167COSM2150201c.438T>Cp.A146ASubstitution - coding silent19:55401667-55401667-
WSU-HN6COSM4597473c.527A>Cp.E176ASubstitution - Missense19:55401578-55401578-
C086COSM5541265c.138C>Tp.T46TSubstitution - coding silent19:55406828-55406828-
WSU-HN12COSM4601266c.41G>Ap.R14HSubstitution - Missense19:55406925-55406925-
C086COSM5541264c.655C>Tp.L219LSubstitution - coding silent19:55401450-55401450-
UM-SCC-47COSM4597473c.527A>Cp.E176ASubstitution - Missense19:55401578-55401578-
T3080COSM4738711c.358C>Tp.L120LSubstitution - coding silent19:55401747-55401747-
HCC038TCOSM2968787c.257C>Tp.P86LSubstitution - Missense19:55404373-55404373-
TCGA-B1-A654-01COSM2150201c.438T>Cp.A146ASubstitution - coding silent19:55401667-55401667-
MO_1012COSM5572035c.286G>Ap.V96ISubstitution - Missense19:55404344-55404344-
1N32-VS-1T32COSM4974549c.57G>Ap.E19ESubstitution - coding silent19:55406909-55406909-
TCGA-FV-A3I0-01COSM4921770c.40C>Tp.R14CSubstitution - Missense19:55406926-55406926-
Mutation - CGAP
UNIGENECYTOBANDOMIMSNP
Hs.39639319q13.436103092427861|CGAP|BC004236|A/G|coding|Ala145Ala|612|Validated;
2427861|CGAP|BC007554|A/G|coding|Ala145Ala|612|Validated;
2427861|CGAP|BC065364|A/G|coding|Ala145Ala|622|Validated;
2427861|CGAP|BC066948|A/G|coding|Ala145Ala|458|Validated;
2427864|CGAP|BC004236|C/T|non-coding||847|Candidate;
2427864|CGAP|BC007554|C/T|non-coding||847|Candidate;
2427864|CGAP|BC065364|C/T|non-coding||857|Candidate;
2427864|CGAP|BC066948|C/T|non-coding||693|Candidate;
2427867|CGAP|BC004236|C/T|non-coding||851|Validated;
2427867|CGAP|BC007554|C/T|non-coding||851|Validated;
2427867|CGAP|BC065364|C/T|non-coding||861|Validated;
2427867|CGAP|BC066948|C/T|non-coding||697|Validated;
2487622|CGAP|BC004236|A/G|coding|Ala145Ala|612|Validated;
2487622|CGAP|BC007554|A/G|coding|Ala145Ala|612|Validated;
2487622|CGAP|BC065364|A/G|coding|Ala145Ala|622|Validated;
2487622|CGAP|BC066948|A/G|coding|Ala145Ala|458|Validated
Mutation - IntOGen
Mutated from(ref)Mutated to(alt)Consequence TypeAA MutationCDS MutationChrPosCancer
CASynonymousp.V20Vc.60G>T1955918274BLCA
CGIntronicSNV.c.343-918G>C1955914048CLL
CTMissensep.G190Rc.568G>A1955912905CM
GASynonymousp.L66Lc.196C>T1955915802HNSC
GASynonymousp.N130Nc.390C>T1955913083CM
GGATMissensep.R135Cc.402_403delinsAT1955913070CM
GTSynonymousp.A184Ac.552C>A1955912921LUSC
TGMissensep.T22Pc.64A>C1955918270CM