Primary Site >> Liver Cancer

Gene >> RYR2

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237788098:237788098(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13439T>A
AA Mutation p.Phe4480Tyr(p.F4480Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237595530:237595530(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4469C>T
AA Mutation p.Ala1490Val(p.A1490V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237550619:237550619(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3142G>A
AA Mutation p.Asp1048Asn(p.D1048N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237819184:237819184(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14582T>C
AA Mutation p.Ile4861Thr(p.I4861T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237610831:237610831(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs528206995
CDS Mutation c.4753C>T
AA Mutation p.Arg1585Cys(p.R1585C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237759807:237759807(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11357A>C
AA Mutation p.Asp3786Ala(p.D3786A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237566609:237566609(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3257G>A
AA Mutation p.Arg1086Gln(p.R1086Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000366574
Start 237417123:237417123(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.848C>T
AA Mutation p.Ala283Val(p.A283V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237808985:237808985(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14383A>G
AA Mutation p.Lys4795Glu(p.K4795E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237614797:237614797(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5669A>C
AA Mutation p.Lys1890Thr(p.K1890T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 11
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000366574
Start 237730354:237730354(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10933G>A
AA Mutation p.Ala3645Thr(p.A3645T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237651491:237651491(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7814T>A
AA Mutation p.Met2605Lys(p.M2605K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237639127:237639127(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7041G>A
AA Mutation p.Met2347Ile(p.M2347I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237709515:237709515(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10178A>T
AA Mutation p.Glu3393Val(p.E3393V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237711769:237711769(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10255T>G
AA Mutation p.Phe3419Val(p.F3419V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237784862:237784862(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13150C>A
AA Mutation p.Leu4384Met(p.L4384M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237784857:237784857(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13145T>A
AA Mutation p.Leu4382Gln(p.L4382Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237530489:237530489(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2885A>G
AA Mutation p.Lys962Arg(p.K962R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237503328:237503328(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2436A>T
AA Mutation p.Lys812Asn(p.K812N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237784824:237784824(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13112A>C
AA Mutation p.Glu4371Ala(p.E4371A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237742315:237742315(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11111A>T
AA Mutation p.Asp3704Val(p.D3704V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237590862:237590862(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4030G>A
AA Mutation p.Glu1344Lys(p.E1344K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237548546:237548546(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3022G>T
AA Mutation p.Ala1008Ser(p.A1008S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237369589:237369589(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs727503396
CDS Mutation c.365G>A
AA Mutation p.Arg122His(p.R122H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237687463:237687463(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9026G>T
AA Mutation p.Cys3009Phe(p.C3009F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237660013:237660013(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8237T>C
AA Mutation p.Ile2746Thr(p.I2746T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237798096:237798096(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14016G>A
AA Mutation p.Met4672Ile(p.M4672I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237388111:237388111(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.701T>A
AA Mutation p.Leu234His(p.L234H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237660855:237660855(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8344A>G
AA Mutation p.Met2782Val(p.M2782V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237590710:237590710(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3878A>C
AA Mutation p.Gln1293Pro(p.Q1293P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237756359:237756359(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs397516502
CDS Mutation c.11217G>T
AA Mutation p.Met3739Ile(p.M3739I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237784137:237784137(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765312361
CDS Mutation c.12425C>T
AA Mutation p.Ala4142Val(p.A4142V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237709524:237709524(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10187T>G
AA Mutation p.Phe3396Cys(p.F3396C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 34
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237784390:237784390(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768348987
CDS Mutation c.12678G>A
Mutation Classification Silent
Feature Type Transcript
ID 35
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237610779:237610779(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4701G>T
Mutation Classification Silent
Feature Type Transcript
ID 36
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237566622:237566622(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3270C>T
Mutation Classification Silent
Feature Type Transcript
ID 37
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237808936:237808936(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14334A>T
Mutation Classification Silent
Feature Type Transcript
ID 38
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237631538:237631538(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6552C>G
Mutation Classification Silent
Feature Type Transcript
ID 39
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237783793:237783793(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12081G>A
Mutation Classification Silent
Feature Type Transcript
ID 40
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237678052:237678052(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8835T>C
Mutation Classification Silent
Feature Type Transcript
ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237784612:237784612(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12900C>T
Mutation Classification Silent
Feature Type Transcript
ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237423188:237423188(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.945A>T
Mutation Classification Silent
Feature Type Transcript
ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237506787:237506787(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2691A>G
Mutation Classification Silent
Feature Type Transcript
ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237589833:237589833(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3639T>A
Mutation Classification Silent
Feature Type Transcript
ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237705276:237705276(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9513G>A
Mutation Classification Silent
Feature Type Transcript
ID 46
Mutation Consequence stop_gained
Transcription ID ENST00000366574
Start 237640907:237640907(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7126G>T
AA Mutation p.Glu2376Ter(p.E2376*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 47
Mutation Consequence stop_gained;protein_altering_variant
Transcription ID ENST00000366574
Start 237566689:237566690(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.3337_3338insGTGTGTTATATTAAGAAGAATTATGTCATTGCTTTGCAT
AA Mutation p.Met1113delinsSerValLeuTyrTerGluGluLeuCysHisCysPheAlaLeu(p.M1113delinsSVLY*EELCHCFAL)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 48
Mutation Consequence stop_gained
Transcription ID ENST00000366574
Start 237784823:237784823(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13111G>T
AA Mutation p.Glu4371Ter(p.E4371*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 49
Mutation Consequence stop_gained
Transcription ID ENST00000366574
Start 237660056:237660056(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8280T>A
AA Mutation p.Tyr2760Ter(p.Y2760*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 50
Mutation Consequence frameshift_variant
Transcription ID ENST00000366574
Start 237377401:237377402(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.543_544dupCA
AA Mutation p.Ile182ThrfsTer3(p.I182Tfs*3)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript