Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ASH1L

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155478953:155478953(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758885213
CDS Mutation c.3917G>A
AA Mutation p.Arg1306Gln(p.R1306Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155357646:155357646(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6914C>T
AA Mutation p.Thr2305Ile(p.T2305I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155480814:155480814(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2056G>T
AA Mutation p.Ala686Ser(p.A686S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155478980:155478980(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3890G>A
AA Mutation p.Arg1297His(p.R1297H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155481282:155481282(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1588C>T
AA Mutation p.Pro530Ser(p.P530S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155343395:155343395(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8227C>T
AA Mutation p.Arg2743Trp(p.R2743W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155347892:155347892(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7582C>T
AA Mutation p.Arg2528Cys(p.R2528C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155354578:155354578(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7123C>T
AA Mutation p.Arg2375Cys(p.R2375C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155459866:155459866(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769430692
CDS Mutation c.5017C>T
AA Mutation p.Arg1673Trp(p.R1673W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155478366:155478366(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs138098710
CDS Mutation c.4504A>G
AA Mutation p.Met1502Val(p.M1502V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155479109:155479109(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377320289
CDS Mutation c.3761G>A
AA Mutation p.Arg1254His(p.R1254H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155378509:155378509(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772388982
CDS Mutation c.6232C>T
AA Mutation p.Arg2078Cys(p.R2078C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155478830:155478830(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4040A>G
AA Mutation p.Lys1347Arg(p.K1347R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000368346
Start 155360302:155360302(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6809A>G
AA Mutation p.Gln2270Arg(p.Q2270R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155481824:155481824(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1046G>T
AA Mutation p.Gly349Val(p.G349V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155343451:155343451(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375304383
CDS Mutation c.8171G>A
AA Mutation p.Arg2724His(p.R2724H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155347855:155347855(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776090224
CDS Mutation c.7619G>A
AA Mutation p.Arg2540Gln(p.R2540Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155479392:155479392(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs145739954
CDS Mutation c.3478C>T
AA Mutation p.Arg1160Trp(p.R1160W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155478621:155478621(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4249T>C
AA Mutation p.Phe1417Leu(p.F1417L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155479110:155479110(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755792596
CDS Mutation c.3760C>T
AA Mutation p.Arg1254Cys(p.R1254C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155343710:155343710(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8029C>T
AA Mutation p.Arg2677Cys(p.R2677C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155479919:155479919(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2951G>A
AA Mutation p.Arg984His(p.R984H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155480541:155480541(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs150671158
CDS Mutation c.2329C>T
AA Mutation p.Arg777Cys(p.R777C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155480751:155480751(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2119A>G
AA Mutation p.Lys707Glu(p.K707E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155338370:155338370(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779448272
CDS Mutation c.8537G>A
AA Mutation p.Arg2846His(p.R2846H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155521446:155521446(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.74C>T
AA Mutation p.Ala25Val(p.A25V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155521359:155521359(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.161G>A
AA Mutation p.Arg54Gln(p.R54Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155343350:155343350(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8272A>G
AA Mutation p.Thr2758Ala(p.T2758A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155344188:155344188(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201394353
CDS Mutation c.7991G>A
AA Mutation p.Arg2664His(p.R2664H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155478990:155478990(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3880C>A
AA Mutation p.Leu1294Ile(p.L1294I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155479331:155479331(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3539T>C
AA Mutation p.Leu1180Pro(p.L1180P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155347723:155347723(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7751A>G
AA Mutation p.Asp2584Gly(p.D2584G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155479250:155479250(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3620A>C
AA Mutation p.Asn1207Thr(p.N1207T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155479832:155479832(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3038A>C
AA Mutation p.Lys1013Thr(p.K1013T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155481246:155481246(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1624A>G
AA Mutation p.Thr542Ala(p.T542A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155479701:155479701(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3169A>T
AA Mutation p.Thr1057Ser(p.T1057S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155479061:155479061(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3809G>A
AA Mutation p.Arg1270Gln(p.R1270Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155481688:155481688(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1182T>G
AA Mutation p.Ser394Arg(p.S394R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155521397:155521397(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.123A>C
AA Mutation p.Lys41Asn(p.K41N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155482015:155482015(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.855A>C
AA Mutation p.Lys285Asn(p.K285N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000368346
Start 155347725:155347725(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771640468
CDS Mutation c.7749C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000368346
Start 155395484:155395484(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6078A>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000368346
Start 155346440:155346440(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7848G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000368346
Start 155478124:155478124(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4746T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000368346
Start 155439064:155439064(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779245910
CDS Mutation c.5091C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000368346
Start 155415809:155415809(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5943C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000368346
Start 155337731:155337731(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8839C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000368346
Start 155479350:155479350(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3520T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000368346
Start 155477938:155477938(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4932T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000368346
Start 155347857:155347857(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7617A>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000368346
Start 155478784:155478784(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778108919
CDS Mutation c.4086A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence frameshift_variant
Transcription ID ENST00000368346
Start 155479205:155479205(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3665delA
AA Mutation p.Lys1222ArgfsTer11(p.K1222Rfs*11)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 53
Mutation Consequence frameshift_variant
Transcription ID ENST00000368346
Start 155480736:155480736(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2134delA
AA Mutation p.Arg712GlufsTer23(p.R712Efs*23)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 54
Mutation Consequence frameshift_variant
Transcription ID ENST00000368346
Start 155438778:155438778(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.5377delC
AA Mutation p.His1793IlefsTer7(p.H1793Ifs*7)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 55
Mutation Consequence frameshift_variant
Transcription ID ENST00000368346
Start 155354570:155354570(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.7131delA
AA Mutation p.Lys2377AsnfsTer5(p.K2377Nfs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 56
Mutation Consequence frameshift_variant
Transcription ID ENST00000368346
Start 155479962:155479962(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2908delA
AA Mutation p.Ile970LeufsTer9(p.I970Lfs*9)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 57
Mutation Consequence frameshift_variant
Transcription ID ENST00000368346
Start 155438690:155438690(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.5465delA
AA Mutation p.Asn1822ThrfsTer2(p.N1822Tfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 58
Mutation Consequence frameshift_variant
Transcription ID ENST00000368346
Start 155478272:155478272(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.4598delA
AA Mutation p.Lys1533SerfsTer17(p.K1533Sfs*17)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 59
Mutation Consequence stop_gained
Transcription ID ENST00000368346
Start 155357719:155357719(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6841C>T
AA Mutation p.Arg2281Ter(p.R2281*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 60
Mutation Consequence stop_gained;splice_region_variant
Transcription ID ENST00000368346
Start 155339329:155339329(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8515C>T
AA Mutation p.Arg2839Ter(p.R2839*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 61
Mutation Consequence frameshift_variant
Transcription ID ENST00000368346
Start 155357635:155357636(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.6924dupA
AA Mutation p.Ser2309IlefsTer11(p.S2309Ifs*11)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> ASH1L

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155480322:155480322(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2548C>G
AA Mutation p.Pro850Ala(p.P850A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155347862:155347862(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764902812
CDS Mutation c.7612C>T
AA Mutation p.Arg2538Cys(p.R2538C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155479110:155479110(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755792596
CDS Mutation c.3760C>T
AA Mutation p.Arg1254Cys(p.R1254C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155343632:155343632(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8107C>T
AA Mutation p.Arg2703Cys(p.R2703C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155478627:155478627(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4243C>T
AA Mutation p.Pro1415Ser(p.P1415S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155481402:155481402(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1468T>G
AA Mutation p.Leu490Val(p.L490V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155479810:155479810(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3060T>G
AA Mutation p.Asn1020Lys(p.N1020K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155357600:155357600(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6960C>A
AA Mutation p.His2320Gln(p.H2320Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155521359:155521359(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.161G>A
AA Mutation p.Arg54Gln(p.R54Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155479898:155479898(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2972C>A
AA Mutation p.Thr991Asn(p.T991N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155378509:155378509(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772388982
CDS Mutation c.6232C>T
AA Mutation p.Arg2078Cys(p.R2078C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000368346
Start 155479919:155479919(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2951G>A
AA Mutation p.Arg984His(p.R984H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence synonymous_variant
Transcription ID ENST00000368346
Start 155480272:155480272(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2598A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 14
Mutation Consequence synonymous_variant
Transcription ID ENST00000368346
Start 155481835:155481835(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1035T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 15
Mutation Consequence stop_gained
Transcription ID ENST00000368346
Start 155370880:155370880(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6451C>T
AA Mutation p.Arg2151Ter(p.R2151*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence frameshift_variant
Transcription ID ENST00000368346
Start 155380123:155380124(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.6111dupT
AA Mutation p.Val2038CysfsTer12(p.V2038Cfs*12)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript