Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> LAMA2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129491915:129491915(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7913A>G
AA Mutation p.Gln2638Arg(p.Q2638R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129154511:129154511(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777327817
CDS Mutation c.1034A>G
AA Mutation p.Asn345Ser(p.N345S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129190232:129190232(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs143626559
CDS Mutation c.1495C>T
AA Mutation p.Arg499Cys(p.R499C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129393214:129393214(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761866721
CDS Mutation c.5404C>T
AA Mutation p.Arg1802Cys(p.R1802C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129320626:129320626(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4147C>T
AA Mutation p.Pro1383Ser(p.P1383S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129190274:129190274(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1537A>G
AA Mutation p.Lys513Glu(p.K513E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129192723:129192723(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1652G>A
AA Mutation p.Arg551His(p.R551H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129252207:129252207(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2008C>G
AA Mutation p.Arg670Gly(p.R670G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129252154:129252154(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1955T>C
AA Mutation p.Val652Ala(p.V652A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129514569:129514569(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9185A>G
AA Mutation p.Asp3062Gly(p.D3062G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129314790:129314790(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3547C>T
AA Mutation p.Arg1183Trp(p.R1183W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129342411:129342411(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4380G>T
AA Mutation p.Lys1460Asn(p.K1460N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129313029:129313029(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3343G>A
AA Mutation p.Ala1115Thr(p.A1115T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129192720:129192720(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1649G>A
AA Mutation p.Gly550Asp(p.G550D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129316041:129316041(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755643402
CDS Mutation c.3928G>A
AA Mutation p.Glu1310Lys(p.E1310K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129366263:129366263(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs568598684
CDS Mutation c.4762C>T
AA Mutation p.Arg1588Cys(p.R1588C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129507638:129507638(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8853A>C
AA Mutation p.Lys2951Asn(p.K2951N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129154582:129154582(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776943729
CDS Mutation c.1105C>T
AA Mutation p.Arg369Cys(p.R369C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 128883288:128883288(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.43G>A
AA Mutation p.Gly15Arg(p.G15R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129280140:129280140(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2530T>G
AA Mutation p.Cys844Gly(p.C844G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129401246:129401246(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777082683
CDS Mutation c.5468G>A
AA Mutation p.Ser1823Asn(p.S1823N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129147029:129147029(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.890C>G
AA Mutation p.Pro297Arg(p.P297R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129149017:129149017(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.948T>G
AA Mutation p.Asp316Glu(p.D316E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129297749:129297749(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2921C>A
AA Mutation p.Ser974Tyr(p.S974Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129312909:129312909(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3223A>C
AA Mutation p.Asn1075His(p.N1075H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129492038:129492038(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8036C>T
AA Mutation p.Pro2679Leu(p.P2679L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129401255:129401255(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373614496
CDS Mutation c.5477G>A
AA Mutation p.Arg1826Gln(p.R1826Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129403840:129403840(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5746A>G
AA Mutation p.Asn1916Asp(p.N1916D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129445802:129445802(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6410C>A
AA Mutation p.Ala2137Asp(p.A2137D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129464303:129464303(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7006G>T
AA Mutation p.Asp2336Tyr(p.D2336Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129492007:129492007(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8005T>C
AA Mutation p.Phe2669Leu(p.F2669L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129507544:129507544(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8759C>T
AA Mutation p.Ala2920Val(p.A2920V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129154513:129154513(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1036T>C
AA Mutation p.Cys346Arg(p.C346R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129492061:129492061(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8059C>A
AA Mutation p.Leu2687Ile(p.L2687I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129505233:129505233(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8581C>A
AA Mutation p.Leu2861Ile(p.L2861I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129481302:129481302(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7612G>C
AA Mutation p.Glu2538Gln(p.E2538Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129144006:129144006(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376437110
CDS Mutation c.745C>T
AA Mutation p.Arg249Cys(p.R249C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129486613:129486613(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774656522
CDS Mutation c.7889G>A
AA Mutation p.Arg2630Gln(p.R2630Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129328300:129328300(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760541670
CDS Mutation c.4199G>A
AA Mutation p.Arg1400Gln(p.R1400Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129403864:129403864(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5770G>A
AA Mutation p.Ala1924Thr(p.A1924T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 128883342:128883342(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.97G>A
AA Mutation p.Ala33Thr(p.A33T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129481398:129481398(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs144901086
CDS Mutation c.7708A>G
AA Mutation p.Thr2570Ala(p.T2570A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000421865
Start 129149080:129149080(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1011T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000421865
Start 129401247:129401247(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753886576
CDS Mutation c.5469C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000421865
Start 129369960:129369960(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778529249
CDS Mutation c.4929C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000421865
Start 129516329:129516329(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765925469
CDS Mutation c.9351A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000421865
Start 129438713:129438713(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6036C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000421865
Start 129098310:129098310(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.534G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000421865
Start 129297801:129297801(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2973C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000421865
Start 129491916:129491916(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7914A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000421865
Start 129403881:129403881(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5787C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000421865
Start 129315770:129315770(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3744C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000421865
Start 129401295:129401295(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs566014203
CDS Mutation c.5517C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000421865
Start 129440916:129440916(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6186C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000421865
Start 129059890:129059890(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.390A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000421865
Start 129503130:129503130(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750547682
CDS Mutation c.8397C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 57
Mutation Consequence synonymous_variant
Transcription ID ENST00000421865
Start 129512367:129512367(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8862T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 58
Mutation Consequence synonymous_variant
Transcription ID ENST00000421865
Start 129464353:129464353(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7056C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 59
Mutation Consequence frameshift_variant
Transcription ID ENST00000421865
Start 129313053:129313053(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3372delA
AA Mutation p.Lys1124AsnfsTer15(p.K1124Nfs*15)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 60
Mutation Consequence frameshift_variant
Transcription ID ENST00000421865
Start 129393101:129393101(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.5294delA
AA Mutation p.Asn1765MetfsTer26(p.N1765Mfs*26)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 61
Mutation Consequence frameshift_variant
Transcription ID ENST00000421865
Start 129512453:129512453(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.8953delA
AA Mutation p.Met2985TrpfsTer8(p.M2985Wfs*8)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 62
Mutation Consequence frameshift_variant
Transcription ID ENST00000421865
Start 129505272:129505272(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.8625delA
AA Mutation p.Ala2876ProfsTer27(p.A2876Pfs*27)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 63
Mutation Consequence frameshift_variant
Transcription ID ENST00000421865
Start 129252243:129252244(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2044_2045delAA
AA Mutation p.Lys682GlufsTer22(p.K682Efs*22)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 64
Mutation Consequence stop_gained
Transcription ID ENST00000421865
Start 129502674:129502674(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8260G>T
AA Mutation p.Glu2754Ter(p.E2754*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 65
Mutation Consequence stop_gained
Transcription ID ENST00000421865
Start 129328299:129328299(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775112258
CDS Mutation c.4198C>T
AA Mutation p.Arg1400Ter(p.R1400*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 66
Mutation Consequence stop_gained
Transcription ID ENST00000421865
Start 129270653:129270653(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2352T>G
AA Mutation p.Tyr784Ter(p.Y784*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 67
Mutation Consequence stop_gained
Transcription ID ENST00000421865
Start 129315855:129315855(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3829C>T
AA Mutation p.Arg1277Ter(p.R1277*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 68
Mutation Consequence stop_gained
Transcription ID ENST00000421865
Start 129464444:129464444(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121913576
CDS Mutation c.7147C>T
AA Mutation p.Arg2383Ter(p.R2383*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 69
Mutation Consequence stop_gained
Transcription ID ENST00000421865
Start 129049983:129049983(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.178G>T
AA Mutation p.Glu60Ter(p.E60*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 70
Mutation Consequence frameshift_variant
Transcription ID ENST00000421865
Start 129456464:129456465(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.6840dupT
AA Mutation p.Val2281CysfsTer12(p.V2281Cfs*12)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 71
Mutation Consequence frameshift_variant
Transcription ID ENST00000421865
Start 129154599:129154600(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.1127dupG
AA Mutation p.Val377CysfsTer4(p.V377Cfs*4)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 72
Mutation Consequence frameshift_variant
Transcription ID ENST00000421865
Start 129505271:129505272(version: GRCh38)
Mutation Type INS
dbSNP_RS rs749162150
CDS Mutation c.8625dupA
AA Mutation p.Ala2876SerfsTer30(p.A2876Sfs*30)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 73
Mutation Consequence frameshift_variant
Transcription ID ENST00000421865
Start 129491988:129491989(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.7991dupG
AA Mutation p.Ala2665CysfsTer4(p.A2665Cfs*4)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 74
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000421865
Start 129454154:129454154(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6574-1G>C
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 75
Mutation Consequence splice_donor_variant
Transcription ID ENST00000421865
Start 129503282:129503282(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8547+2T>C
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 76
Mutation Consequence inframe_deletion
Transcription ID ENST00000421865
Start 129440925:129440927(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs758495000
CDS Mutation c.6201_6203delGAA
AA Mutation p.Lys2067del(p.K2067del)
Mutation Classification In_Frame_Del
Feature Type Transcript

Rectum Cancer: Gene >> LAMA2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129154562:129154562(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1085G>A
AA Mutation p.Arg362Lys(p.R362K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129403873:129403873(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5779G>A
AA Mutation p.Ala1927Thr(p.A1927T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129481350:129481350(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7660T>A
AA Mutation p.Phe2554Ile(p.F2554I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000421865
Start 129192852:129192852(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1781A>G
AA Mutation p.Lys594Arg(p.K594R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129453013:129453013(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6455G>T
AA Mutation p.Gly2152Val(p.G2152V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129391554:129391554(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781542342
CDS Mutation c.5135G>T
AA Mutation p.Arg1712Ile(p.R1712I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129492005:129492005(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8003A>C
AA Mutation p.Glu2668Ala(p.E2668A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129315599:129315599(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3679G>T
AA Mutation p.Asp1227Tyr(p.D1227Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129391511:129391511(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5092A>C
AA Mutation p.Lys1698Gln(p.K1698Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129491968:129491968(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7966G>A
AA Mutation p.Glu2656Lys(p.E2656K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000421865
Start 129512425:129512425(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8920A>G
AA Mutation p.Thr2974Ala(p.T2974A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence synonymous_variant
Transcription ID ENST00000421865
Start 129190282:129190282(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774918437
CDS Mutation c.1545C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 13
Mutation Consequence synonymous_variant
Transcription ID ENST00000421865
Start 129313001:129313001(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3315C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 14
Mutation Consequence synonymous_variant
Transcription ID ENST00000421865
Start 129473254:129473254(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7341G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 15
Mutation Consequence synonymous_variant
Transcription ID ENST00000421865
Start 129512437:129512437(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8932C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 16
Mutation Consequence synonymous_variant
Transcription ID ENST00000421865
Start 129503259:129503259(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8526C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 17
Mutation Consequence synonymous_variant
Transcription ID ENST00000421865
Start 128883350:128883350(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.105G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 18
Mutation Consequence stop_gained
Transcription ID ENST00000421865
Start 129478697:129478697(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7456G>T
AA Mutation p.Glu2486Ter(p.E2486*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript