Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> CREBBP

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3770934:3770934(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2516A>G
AA Mutation p.Gln839Arg(p.Q839R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3792082:3792082(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1229C>T
AA Mutation p.Ala410Val(p.A410V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3731826:3731826(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4840T>C
AA Mutation p.Ser1614Pro(p.S1614P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3739692:3739692(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4166T>C
AA Mutation p.Phe1389Ser(p.F1389S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3738617:3738617(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs398124146
CDS Mutation c.4336C>T
AA Mutation p.Arg1446Cys(p.R1446C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3791992:3791992(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1319G>A
AA Mutation p.Arg440Gln(p.R440Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3850434:3850434(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.661G>A
AA Mutation p.Gly221Arg(p.G221R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000262367
Start 3738671:3738671(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4282C>T
AA Mutation p.Arg1428Cys(p.R1428C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3793454:3793454(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1148C>T
AA Mutation p.Pro383Leu(p.P383L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3758946:3758946(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3277G>A
AA Mutation p.Ala1093Thr(p.A1093T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3757925:3757925(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3493T>C
AA Mutation p.Trp1165Arg(p.W1165R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3729843:3729843(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5204C>T
AA Mutation p.Thr1735Met(p.T1735M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000262367
Start 3774693:3774693(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2159G>T
AA Mutation p.Gly720Val(p.G720V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3774574:3774574(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2278C>T
AA Mutation p.Pro760Ser(p.P760S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3739645:3739645(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs140133512
CDS Mutation c.4213G>A
AA Mutation p.Val1405Met(p.V1405M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3731316:3731316(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5048G>A
AA Mutation p.Arg1683His(p.R1683H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3850739:3850739(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.356G>T
AA Mutation p.Gly119Val(p.G119V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3731796:3731796(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4870A>C
AA Mutation p.Thr1624Pro(p.T1624P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3728832:3728832(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6215G>A
AA Mutation p.Arg2072Gln(p.R2072Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3731379:3731379(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4985A>G
AA Mutation p.Asp1662Gly(p.D1662G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3729691:3729691(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5356C>T
AA Mutation p.Arg1786Cys(p.R1786C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3729828:3729828(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5219A>G
AA Mutation p.His1740Arg(p.H1740R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3731277:3731277(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5087A>G
AA Mutation p.His1696Arg(p.H1696R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3810744:3810744(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.834G>T
AA Mutation p.Gln278His(p.Q278H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3782828:3782828(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1429G>A
AA Mutation p.Asp477Asn(p.D477N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3728451:3728451(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765821935
CDS Mutation c.6596A>T
AA Mutation p.Gln2199Leu(p.Q2199L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3729277:3729277(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368145743
CDS Mutation c.5770G>A
AA Mutation p.Val1924Met(p.V1924M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3728596:3728596(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6451C>T
AA Mutation p.Arg2151Trp(p.R2151W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3727975:3727975(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7072C>T
AA Mutation p.Pro2358Ser(p.P2358S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3773906:3773906(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2308C>T
AA Mutation p.Pro770Ser(p.P770S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3778113:3778113(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2011T>C
AA Mutation p.Ser671Pro(p.S671P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3780754:3780754(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1801C>T
AA Mutation p.Arg601Trp(p.R601W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3740469:3740469(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774076896
CDS Mutation c.4063G>A
AA Mutation p.Gly1355Arg(p.G1355R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3757913:3757913(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3505C>T
AA Mutation p.Arg1169Cys(p.R1169C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3738616:3738616(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4337G>A
AA Mutation p.Arg1446His(p.R1446H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3778112:3778112(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2012C>T
AA Mutation p.Ser671Leu(p.S671L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3728361:3728361(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6686G>A
AA Mutation p.Gly2229Asp(p.G2229D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3770933:3770933(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2517G>T
AA Mutation p.Gln839His(p.Q839H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3731853:3731853(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4813A>G
AA Mutation p.Lys1605Glu(p.K1605E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence synonymous_variant
Transcription ID ENST00000262367
Start 3850825:3850825(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748030826
CDS Mutation c.270C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000262367
Start 3778718:3778718(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs763196598
CDS Mutation c.1923C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000262367
Start 3757911:3757911(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3507C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000262367
Start 3774674:3774674(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs151083156
CDS Mutation c.2178C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000262367
Start 3731300:3731300(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5064G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000262367
Start 3727958:3727958(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199610814
CDS Mutation c.7089G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000262367
Start 3745309:3745309(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3882C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000262367
Start 3729089:3729089(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774747147
CDS Mutation c.5958G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000262367
Start 3728975:3728975(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201934909
CDS Mutation c.6072G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000262367
Start 3793459:3793459(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs147342740
CDS Mutation c.1143G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000262367
Start 3729308:3729308(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777139307
CDS Mutation c.5739C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000262367
Start 3729533:3729533(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5514C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000262367
Start 3850429:3850429(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772743817
CDS Mutation c.666T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000262367
Start 3728042:3728042(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751640745
CDS Mutation c.7005C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000262367
Start 3850696:3850696(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.399G>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 55
Mutation Consequence frameshift_variant
Transcription ID ENST00000262367
Start 3727816:3727816(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.7231delC
AA Mutation p.Gln2411SerfsTer2(p.Q2411Sfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 56
Mutation Consequence frameshift_variant
Transcription ID ENST00000262367
Start 3769309:3769309(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2925delC
AA Mutation p.Ser976ProfsTer22(p.S976Pfs*22)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 57
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000262367
Start 3767720:3767720(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3250delA
AA Mutation p.Ile1084SerfsTer15(p.I1084Sfs*15)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 58
Mutation Consequence stop_gained
Transcription ID ENST00000262367
Start 3778174:3778174(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1950T>G
AA Mutation p.Tyr650Ter(p.Y650*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 59
Mutation Consequence stop_gained
Transcription ID ENST00000262367
Start 3729623:3729623(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5424C>A
AA Mutation p.Cys1808Ter(p.C1808*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 60
Mutation Consequence stop_gained
Transcription ID ENST00000262367
Start 3728419:3728419(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6628C>T
AA Mutation p.Gln2210Ter(p.Q2210*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 61
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000262367
Start 3767719:3767720(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.3250dupA
AA Mutation p.Ile1084AsnfsTer3(p.I1084Nfs*3)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 62
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000262367
Start 3778183:3778183(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1942-1G>T
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 63
Mutation Consequence inframe_insertion
Transcription ID ENST00000262367
Start 3758018:3758019(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.3399_3400insCTCAAA
AA Mutation p.Met1133_Asp1134insLeuLys(p.M1133_D1134insLK)
Mutation Classification In_Frame_Ins
Feature Type Transcript

Rectum Cancer: Gene >> CREBBP

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3749631:3749631(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs267606752
CDS Mutation c.3832G>A
AA Mutation p.Glu1278Lys(p.E1278K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3850883:3850883(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.212C>T
AA Mutation p.Ser71Leu(p.S71L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3728017:3728017(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7030C>T
AA Mutation p.Arg2344Trp(p.R2344W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3778110:3778110(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2014C>T
AA Mutation p.Arg672Cys(p.R672C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3729577:3729577(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5470G>A
AA Mutation p.Ala1824Thr(p.A1824T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3850859:3850859(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.236G>T
AA Mutation p.Gly79Val(p.G79V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3810668:3810668(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766101764
CDS Mutation c.910G>A
AA Mutation p.Val304Ile(p.V304I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence synonymous_variant
Transcription ID ENST00000262367
Start 3770702:3770702(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2748T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000262367
Start 3810675:3810675(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.903G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000262367
Start 3729419:3729419(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747210551
CDS Mutation c.5628C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 11
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000262367
Start 3767720:3767720(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3250delA
AA Mutation p.Ile1084SerfsTer15(p.I1084Sfs*15)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 12
Mutation Consequence stop_gained
Transcription ID ENST00000262367
Start 3778134:3778134(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1990G>T
AA Mutation p.Glu664Ter(p.E664*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence stop_gained
Transcription ID ENST00000262367
Start 3751730:3751730(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3775C>T
AA Mutation p.Gln1259Ter(p.Q1259*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000262367
Start 3739725:3739725(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4134-1G>A
Mutation Classification Splice_Site
Feature Type Transcript