Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ROS1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117301012:117301012(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6695A>G
AA Mutation p.Glu2232Gly(p.E2232G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117385849:117385849(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2138A>T
AA Mutation p.Tyr713Phe(p.Y713F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117288685:117288685(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764751833
CDS Mutation c.6851G>A
AA Mutation p.Gly2284Asp(p.G2284D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117319918:117319918(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766115237
CDS Mutation c.5890G>A
AA Mutation p.Ala1964Thr(p.A1964T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117359825:117359825(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3632A>C
AA Mutation p.Asn1211Thr(p.N1211T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117394187:117394187(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1139G>T
AA Mutation p.Arg380Ile(p.R380I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117310202:117310202(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6313C>G
AA Mutation p.Leu2105Val(p.L2105V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117385773:117385773(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2214G>T
AA Mutation p.Glu738Asp(p.E738D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117389539:117389539(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1570T>C
AA Mutation p.Ser524Pro(p.S524P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117394674:117394674(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.921A>T
AA Mutation p.Lys307Asn(p.K307N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117341584:117341584(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4718G>A
AA Mutation p.Ser1573Asn(p.S1573N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117308812:117308812(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6551G>A
AA Mutation p.Arg2184Lys(p.R2184K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117394278:117394278(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1048G>T
AA Mutation p.Ala350Ser(p.A350S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117418487:117418487(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.143G>A
AA Mutation p.Gly48Asp(p.G48D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117341596:117341596(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs141448347
CDS Mutation c.4706G>A
AA Mutation p.Arg1569Gln(p.R1569Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117397014:117397014(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.680G>A
AA Mutation p.Gly227Asp(p.G227D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117385718:117385718(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2269G>A
AA Mutation p.Gly757Ser(p.G757S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117403274:117403274(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.442G>A
AA Mutation p.Val148Met(p.V148M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117288512:117288512(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7024T>C
AA Mutation p.Tyr2342His(p.Y2342H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117404383:117404383(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.335G>A
AA Mutation p.Ser112Asn(p.S112N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117362684:117362684(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3300C>G
AA Mutation p.Asp1100Glu(p.D1100E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117360369:117360369(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3418G>A
AA Mutation p.Ala1140Thr(p.A1140T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117326305:117326305(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5476T>C
AA Mutation p.Phe1826Leu(p.F1826L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117301078:117301078(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6629G>T
AA Mutation p.Arg2210Ile(p.R2210I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117353134:117353134(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4177G>T
AA Mutation p.Asp1393Tyr(p.D1393Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117356726:117356726(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4044G>T
AA Mutation p.Glu1348Asp(p.E1348D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117389826:117389826(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1283G>T
AA Mutation p.Arg428Ile(p.R428I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117394660:117394660(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.935A>G
AA Mutation p.Glu312Gly(p.E312G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117359927:117359927(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370524859
CDS Mutation c.3530C>T
AA Mutation p.Thr1177Met(p.T1177M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117389530:117389530(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1579G>A
AA Mutation p.Glu527Lys(p.E527K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117389767:117389767(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1342C>G
AA Mutation p.Arg448Gly(p.R448G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117319974:117319974(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5834T>C
AA Mutation p.Leu1945Pro(p.L1945P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117385814:117385814(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764959275
CDS Mutation c.2173G>A
AA Mutation p.Asp725Asn(p.D725N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117387786:117387786(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2008G>A
AA Mutation p.Val670Met(p.V670M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000368508
Start 117318252:117318252(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5941A>T
AA Mutation p.Thr1981Ser(p.T1981S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence synonymous_variant
Transcription ID ENST00000368508
Start 117383410:117383410(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2403C>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 37
Mutation Consequence synonymous_variant
Transcription ID ENST00000368508
Start 117337242:117337242(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5178T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 38
Mutation Consequence synonymous_variant
Transcription ID ENST00000368508
Start 117383485:117383485(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777217782
CDS Mutation c.2328G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 39
Mutation Consequence synonymous_variant
Transcription ID ENST00000368508
Start 117288792:117288792(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs565892633
CDS Mutation c.6744C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 40
Mutation Consequence synonymous_variant
Transcription ID ENST00000368508
Start 117357818:117357818(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3840A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000368508
Start 117387796:117387796(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1998T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000368508
Start 117326267:117326267(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753176603
CDS Mutation c.5514T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000368508
Start 117386899:117386899(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2115A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000368508
Start 117387820:117387820(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1974C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000368508
Start 117288792:117288792(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6744C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000368508
Start 117394213:117394213(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1113T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000368508
Start 117365620:117365620(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2934T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000368508
Start 117365716:117365716(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2838T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence frameshift_variant
Transcription ID ENST00000368508
Start 117359957:117359957(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs772514180
CDS Mutation c.3500delT
AA Mutation p.Leu1167Ter(p.L1167*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 50
Mutation Consequence frameshift_variant
Transcription ID ENST00000368508
Start 117357918:117357918(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3740delA
AA Mutation p.Asn1247MetfsTer14(p.N1247Mfs*14)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 51
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000368508
Start 117383318:117383318(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2495delA
AA Mutation p.Lys832ArgfsTer2(p.K832Rfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 52
Mutation Consequence frameshift_variant
Transcription ID ENST00000368508
Start 117326319:117326319(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.5462delA
AA Mutation p.Asn1821ThrfsTer2(p.N1821Tfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 53
Mutation Consequence stop_gained
Transcription ID ENST00000368508
Start 117394703:117394703(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.892A>T
AA Mutation p.Lys298Ter(p.K298*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 54
Mutation Consequence stop_gained
Transcription ID ENST00000368508
Start 117337211:117337211(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5209G>T
AA Mutation p.Glu1737Ter(p.E1737*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 55
Mutation Consequence stop_gained
Transcription ID ENST00000368508
Start 117341537:117341537(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4765G>T
AA Mutation p.Glu1589Ter(p.E1589*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 56
Mutation Consequence frameshift_variant
Transcription ID ENST00000368508
Start 117394238:117394239(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.1087dupT
AA Mutation p.Tyr363LeufsTer25(p.Y363Lfs*25)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 57
Mutation Consequence frameshift_variant
Transcription ID ENST00000368508
Start 117359956:117359957(version: GRCh38)
Mutation Type INS
dbSNP_RS rs748436511
CDS Mutation c.3500dupT
AA Mutation p.Leu1167PhefsTer26(p.L1167Ffs*26)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 58
Mutation Consequence splice_donor_variant
Transcription ID ENST00000368508
Start 117394160:117394160(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1164+2T>C
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 59
Mutation Consequence splice_donor_variant
Transcription ID ENST00000368508
Start 117394614:117394614(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.979+2T>C
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 60
Mutation Consequence protein_altering_variant
Transcription ID ENST00000368508
Start 117425574:117425575(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.82_83insAAGAGAAAACAATTCTAT
AA Mutation p.Thr28delinsLysGluLysThrIleLeuSer(p.T28delinsKEKTILS)
Mutation Classification In_Frame_Ins
Feature Type Transcript
Mutation ID 61
Mutation Consequence stop_lost
Transcription ID ENST00000368508
Start 117288492:117288492(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7044A>T
AA Mutation p.Ter2348TyrextTer1(p.*2348Yext*1)
Mutation Classification Nonstop_Mutation
Feature Type Transcript

Rectum Cancer: Gene >> ROS1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117308812:117308812(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6551G>A
AA Mutation p.Arg2184Lys(p.R2184K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117324401:117324401(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5572C>A
AA Mutation p.Pro1858Thr(p.P1858T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117389511:117389511(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1598A>C
AA Mutation p.Asp533Ala(p.D533A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117308812:117308812(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6551G>T
AA Mutation p.Arg2184Ile(p.R2184I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117337235:117337235(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5185G>T
AA Mutation p.Val1729Leu(p.V1729L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117342414:117342414(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4655A>C
AA Mutation p.Lys1552Thr(p.K1552T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117359968:117359968(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3489G>T
AA Mutation p.Lys1163Asn(p.K1163N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000368508
Start 117389350:117389350(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1759A>T
AA Mutation p.Asn587Tyr(p.N587Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117324379:117324379(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5594C>T
AA Mutation p.Thr1865Ile(p.T1865I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117394247:117394247(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769599473
CDS Mutation c.1079G>T
AA Mutation p.Arg360Ile(p.R360I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117396960:117396960(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.734G>T
AA Mutation p.Arg245Ile(p.R245I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000368508
Start 117404365:117404365(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.353G>A
AA Mutation p.Arg118Gln(p.R118Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence synonymous_variant
Transcription ID ENST00000368508
Start 117389657:117389657(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1452C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 14
Mutation Consequence synonymous_variant
Transcription ID ENST00000368508
Start 117389840:117389840(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1269C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 15
Mutation Consequence stop_gained
Transcription ID ENST00000368508
Start 117386915:117386915(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2099T>A
AA Mutation p.Leu700Ter(p.L700*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence stop_gained
Transcription ID ENST00000368508
Start 117357928:117357928(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3730G>T
AA Mutation p.Glu1244Ter(p.E1244*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence frameshift_variant
Transcription ID ENST00000368508
Start 117366166:117366167(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2721dupA
AA Mutation p.Glu908ArgfsTer17(p.E908Rfs*17)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript