Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ATM

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108247071:108247071(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs138398778
CDS Mutation c.1009C>T
AA Mutation p.Arg337Cys(p.R337C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108326173:108326173(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6923C>T
AA Mutation p.Ala2308Val(p.A2308V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108327726:108327726(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7057C>A
AA Mutation p.Pro2353Thr(p.P2353T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108245022:108245022(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.897A>C
AA Mutation p.Glu299Asp(p.E299D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108325378:108325378(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6641A>G
AA Mutation p.Asp2214Gly(p.D2214G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108332766:108332766(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs140263969
CDS Mutation c.7793G>A
AA Mutation p.Arg2598Gln(p.R2598Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000278616
Start 108259073:108259073(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2464T>G
AA Mutation p.Leu822Val(p.L822V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108251987:108251987(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1758G>T
AA Mutation p.Glu586Asp(p.E586D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108294937:108294937(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4787A>C
AA Mutation p.His1596Pro(p.H1596P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000278616
Start 108329236:108329236(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7305C>G
AA Mutation p.Asn2435Lys(p.N2435K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108247072:108247072(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs202160435
CDS Mutation c.1010G>A
AA Mutation p.Arg337His(p.R337H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000278616
Start 108330216:108330216(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7310A>G
AA Mutation p.Tyr2437Cys(p.Y2437C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108310270:108310270(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5873C>T
AA Mutation p.Ala1958Val(p.A1958V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108247083:108247083(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200601781
CDS Mutation c.1021G>A
AA Mutation p.Val341Ile(p.V341I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108245000:108245000(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747727055
CDS Mutation c.875C>T
AA Mutation p.Pro292Leu(p.P292L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108347309:108347309(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8615A>G
AA Mutation p.His2872Arg(p.H2872R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108353856:108353856(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs730881329
CDS Mutation c.8762C>T
AA Mutation p.Thr2921Met(p.T2921M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108335854:108335854(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8161G>A
AA Mutation p.Asp2721Asn(p.D2721N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108289075:108289075(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4208G>A
AA Mutation p.Ser1403Asn(p.S1403N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108289008:108289008(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4141T>C
AA Mutation p.Phe1381Leu(p.F1381L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108292648:108292648(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201594549
CDS Mutation c.4466G>A
AA Mutation p.Arg1489His(p.R1489H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108335921:108335921(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs730881321
CDS Mutation c.8228C>T
AA Mutation p.Thr2743Met(p.T2743M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108293438:108293438(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4737A>C
AA Mutation p.Gln1579His(p.Q1579H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108250960:108250960(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1495C>G
AA Mutation p.Gln499Glu(p.Q499E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108271399:108271399(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3070G>A
AA Mutation p.Ala1024Thr(p.A1024T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108292698:108292698(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4516G>A
AA Mutation p.Val1506Met(p.V1506M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108252848:108252848(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747242300
CDS Mutation c.1834C>A
AA Mutation p.Leu612Ile(p.L612I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108271274:108271274(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2945G>T
AA Mutation p.Arg982Leu(p.R982L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108250942:108250942(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750280306
CDS Mutation c.1477C>T
AA Mutation p.Arg493Cys(p.R493C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108282874:108282874(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3741C>A
AA Mutation p.Phe1247Leu(p.F1247L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108299878:108299878(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5170G>C
AA Mutation p.Glu1724Gln(p.E1724Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108271273:108271273(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587779830
CDS Mutation c.2944C>T
AA Mutation p.Arg982Cys(p.R982C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108329220:108329220(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs786202856
CDS Mutation c.7289A>G
AA Mutation p.His2430Arg(p.H2430R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108250896:108250896(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1431G>T
AA Mutation p.Lys477Asn(p.K477N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108317403:108317403(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6229C>A
AA Mutation p.Leu2077Ile(p.L2077I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000278616
Start 108315825:108315825(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6009T>A
AA Mutation p.Asp2003Glu(p.D2003E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000278616
Start 108310315:108310315(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5918G>T
AA Mutation p.Arg1973Ile(p.R1973I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108365426:108365426(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9089G>T
AA Mutation p.Gly3030Val(p.G3030V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108365360:108365360(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587781894
CDS Mutation c.9023G>A
AA Mutation p.Arg3008His(p.R3008H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence synonymous_variant
Transcription ID ENST00000278616
Start 108327731:108327731(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7062G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000278616
Start 108267314:108267314(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587780618
CDS Mutation c.2610C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000278616
Start 108316029:108316029(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774993357
CDS Mutation c.6114C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000278616
Start 108251903:108251903(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1674A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence frameshift_variant
Transcription ID ENST00000278616
Start 108293437:108293437(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4741delA
AA Mutation p.Ile1581SerfsTer20(p.I1581Sfs*20)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 45
Mutation Consequence frameshift_variant
Transcription ID ENST00000278616
Start 108310311:108310311(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.5917delA
AA Mutation p.Arg1973GlufsTer17(p.R1973Efs*17)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 46
Mutation Consequence frameshift_variant
Transcription ID ENST00000278616
Start 108252889:108252889(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1880delT
AA Mutation p.Phe627SerfsTer22(p.F627Sfs*22)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 47
Mutation Consequence frameshift_variant
Transcription ID ENST00000278616
Start 108345750:108345750(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs759472682
CDS Mutation c.8432delA
AA Mutation p.Lys2811SerfsTer46(p.K2811Sfs*46)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 48
Mutation Consequence frameshift_variant
Transcription ID ENST00000278616
Start 108244090:108244090(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.640delT
AA Mutation p.Ser214ProfsTer16(p.S214Pfs*16)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 49
Mutation Consequence frameshift_variant
Transcription ID ENST00000278616
Start 108227882:108227882(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.183delT
AA Mutation p.Phe61LeufsTer15(p.F61Lfs*15)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 50
Mutation Consequence frameshift_variant
Transcription ID ENST00000278616
Start 108326153:108326153(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.6908delA
AA Mutation p.Lys2303ArgfsTer7(p.K2303Rfs*7)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 51
Mutation Consequence frameshift_variant
Transcription ID ENST00000278616
Start 108281098:108281098(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3510delA
AA Mutation p.Lys1170AsnfsTer11(p.K1170Nfs*11)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 52
Mutation Consequence frameshift_variant
Transcription ID ENST00000278616
Start 108325426:108325426(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.6692delT
AA Mutation p.Leu2231TrpfsTer4(p.L2231Wfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 53
Mutation Consequence frameshift_variant
Transcription ID ENST00000278616
Start 108304687:108304687(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.5512delT
AA Mutation p.Cys1838ValfsTer8(p.C1838Vfs*8)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 54
Mutation Consequence frameshift_variant
Transcription ID ENST00000278616
Start 108293459:108293462(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.4758_4761delACCC
AA Mutation p.Pro1587PhefsTer13(p.P1587Ffs*13)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 55
Mutation Consequence frameshift_variant
Transcription ID ENST00000278616
Start 108329204:108329204(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.7274delG
AA Mutation p.Gly2425ValfsTer15(p.G2425Vfs*15)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 56
Mutation Consequence stop_gained
Transcription ID ENST00000278616
Start 108259022:108259022(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs780619951
CDS Mutation c.2413C>T
AA Mutation p.Arg805Ter(p.R805*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 57
Mutation Consequence stop_gained
Transcription ID ENST00000278616
Start 108244873:108244873(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772821016
CDS Mutation c.748C>T
AA Mutation p.Arg250Ter(p.R250*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 58
Mutation Consequence stop_gained
Transcription ID ENST00000278616
Start 108297373:108297373(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4996G>T
AA Mutation p.Glu1666Ter(p.E1666*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 59
Mutation Consequence stop_gained
Transcription ID ENST00000278616
Start 108334984:108334984(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8026G>T
AA Mutation p.Glu2676Ter(p.E2676*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 60
Mutation Consequence stop_gained
Transcription ID ENST00000278616
Start 108343260:108343260(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778269655
CDS Mutation c.8307G>A
AA Mutation p.Trp2769Ter(p.W2769*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 61
Mutation Consequence stop_gained
Transcription ID ENST00000278616
Start 108330233:108330233(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121434220
CDS Mutation c.7327C>T
AA Mutation p.Arg2443Ter(p.R2443*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 62
Mutation Consequence stop_gained;splice_region_variant
Transcription ID ENST00000278616
Start 108254037:108254037(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2122G>T
AA Mutation p.Glu708Ter(p.E708*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 63
Mutation Consequence stop_gained
Transcription ID ENST00000278616
Start 108295002:108295002(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762083530
CDS Mutation c.4852C>T
AA Mutation p.Arg1618Ter(p.R1618*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 64
Mutation Consequence stop_gained
Transcription ID ENST00000278616
Start 108304801:108304801(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376603775
CDS Mutation c.5623C>T
AA Mutation p.Arg1875Ter(p.R1875*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 65
Mutation Consequence stop_gained
Transcription ID ENST00000278616
Start 108302997:108302997(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5464G>T
AA Mutation p.Glu1822Ter(p.E1822*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 66
Mutation Consequence stop_gained
Transcription ID ENST00000278616
Start 108301658:108301658(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764389018
CDS Mutation c.5188C>T
AA Mutation p.Arg1730Ter(p.R1730*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 67
Mutation Consequence stop_gained
Transcription ID ENST00000278616
Start 108316015:108316015(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs532480170
CDS Mutation c.6100C>T
AA Mutation p.Arg2034Ter(p.R2034*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 68
Mutation Consequence frameshift_variant
Transcription ID ENST00000278616
Start 108289697:108289698(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.4335dupT
AA Mutation p.Val1446CysfsTer2(p.V1446Cfs*2)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 69
Mutation Consequence frameshift_variant
Transcription ID ENST00000278616
Start 108297299:108297300(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4923dupT
AA Mutation p.Gly1642TrpfsTer23(p.G1642Wfs*23)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 70
Mutation Consequence frameshift_variant
Transcription ID ENST00000278616
Start 108271401:108271402(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.3076dupT
AA Mutation p.Trp1026LeufsTer22(p.W1026Lfs*22)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 71
Mutation Consequence frameshift_variant
Transcription ID ENST00000278616
Start 108329168:108329169(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.7237_7238insCAACCAATTTAAATTAT
AA Mutation p.Lys2413ThrfsTer11(p.K2413Tfs*11)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 72
Mutation Consequence frameshift_variant
Transcription ID ENST00000278616
Start 108294972:108294973(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4823_4824dupTG
AA Mutation p.Thr1609Ter(p.T1609*)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 73
Mutation Consequence splice_donor_variant
Transcription ID ENST00000278616
Start 108301790:108301790(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5319+1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 74
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000278616
Start 108284225:108284225(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3747-2A>G
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 75
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000278616
Start 108301647:108301647(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5178-1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 76
Mutation Consequence splice_donor_variant
Transcription ID ENST00000278616
Start 108244120:108244120(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.662+2T>C
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 77
Mutation Consequence protein_altering_variant
Transcription ID ENST00000278616
Start 108335026:108335027(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.8068_8069insACATTA
AA Mutation p.Phe2690delinsTyrIleIle(p.F2690delinsYII)
Mutation Classification In_Frame_Ins
Feature Type Transcript

Rectum Cancer: Gene >> ATM

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108247071:108247071(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs138398778
CDS Mutation c.1009C>T
AA Mutation p.Arg337Cys(p.R337C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108244797:108244797(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769731317
CDS Mutation c.672G>C
AA Mutation p.Lys224Asn(p.K224N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108345759:108345759(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8435C>A
AA Mutation p.Ser2812Tyr(p.S2812Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108365345:108365345(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs144636562
CDS Mutation c.9008A>G
AA Mutation p.Asn3003Ser(p.N3003S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108347318:108347318(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587782451
CDS Mutation c.8624A>G
AA Mutation p.Asn2875Ser(p.N2875S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108247072:108247072(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs202160435
CDS Mutation c.1010G>A
AA Mutation p.Arg337His(p.R337H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108271262:108271262(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2933C>A
AA Mutation p.Ser978Tyr(p.S978Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108331918:108331918(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7669T>G
AA Mutation p.Leu2557Val(p.L2557V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108268595:108268595(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2824C>A
AA Mutation p.Leu942Ile(p.L942I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108281041:108281041(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3449G>T
AA Mutation p.Arg1150Ile(p.R1150I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108282782:108282782(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3649C>A
AA Mutation p.Leu1217Met(p.L1217M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108289089:108289089(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4222C>A
AA Mutation p.Leu1408Ile(p.L1408I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108320045:108320045(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6439C>A
AA Mutation p.Leu2147Ile(p.L2147I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108325488:108325488(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6751C>A
AA Mutation p.Leu2251Ile(p.L2251I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108299752:108299752(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5044G>T
AA Mutation p.Asp1682Tyr(p.D1682Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000278616
Start 108316030:108316030(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6115G>A
AA Mutation p.Glu2039Lys(p.E2039K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence synonymous_variant
Transcription ID ENST00000278616
Start 108259012:108259012(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2403C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 18
Mutation Consequence synonymous_variant
Transcription ID ENST00000278616
Start 108292646:108292646(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4464A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 19
Mutation Consequence stop_gained
Transcription ID ENST00000278616
Start 108301658:108301658(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764389018
CDS Mutation c.5188C>T
AA Mutation p.Arg1730Ter(p.R1730*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence stop_gained
Transcription ID ENST00000278616
Start 108345869:108345869(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587778080
CDS Mutation c.8545C>T
AA Mutation p.Arg2849Ter(p.R2849*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence stop_gained
Transcription ID ENST00000278616
Start 108289761:108289761(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs730881369
CDS Mutation c.4396C>T
AA Mutation p.Arg1466Ter(p.R1466*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence stop_gained
Transcription ID ENST00000278616
Start 108244873:108244873(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772821016
CDS Mutation c.748C>T
AA Mutation p.Arg250Ter(p.R250*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence frameshift_variant
Transcription ID ENST00000278616
Start 108326152:108326153(version: GRCh38)
Mutation Type INS
dbSNP_RS rs773570504
CDS Mutation c.6908dupA
AA Mutation p.Glu2304GlyfsTer69(p.E2304Gfs*69)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 24
Mutation Consequence splice_donor_variant
Transcription ID ENST00000278616
Start 108307985:108307985(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5762+1G>T
Mutation Classification Splice_Site
Feature Type Transcript