Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> BIRC6

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32415651:32415651(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2360A>C
AA Mutation p.Asn787Thr(p.N787T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32485735:32485735(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368623523
CDS Mutation c.7789G>A
AA Mutation p.Ala2597Thr(p.A2597T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32508077:32508077(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9798A>C
AA Mutation p.Lys3266Asn(p.K3266N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32575334:32575334(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13323G>T
AA Mutation p.Lys4441Asn(p.K4441N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32415747:32415747(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2456A>C
AA Mutation p.Asn819Thr(p.N819T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32433742:32433742(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3347A>C
AA Mutation p.Asn1116Thr(p.N1116T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32464713:32464713(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5146G>A
AA Mutation p.Val1716Ile(p.V1716I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32467534:32467534(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5366G>T
AA Mutation p.Arg1789Ile(p.R1789I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32499812:32499812(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8734G>A
AA Mutation p.Glu2912Lys(p.E2912K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32515217:32515217(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10796C>T
AA Mutation p.Ala3599Val(p.A3599V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32380187:32380187(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.542T>C
AA Mutation p.Val181Ala(p.V181A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32442171:32442171(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4051C>A
AA Mutation p.Leu1351Ile(p.L1351I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32415461:32415461(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2170A>C
AA Mutation p.Lys724Gln(p.K724Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32415949:32415949(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747004451
CDS Mutation c.2658G>T
AA Mutation p.Lys886Asn(p.K886N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32529798:32529798(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12068C>A
AA Mutation p.Ser4023Tyr(p.S4023Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32575200:32575200(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13189G>A
AA Mutation p.Glu4397Lys(p.E4397K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32595050:32595050(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13518A>C
AA Mutation p.Glu4506Asp(p.E4506D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32464593:32464593(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5026G>A
AA Mutation p.Val1676Met(p.V1676M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32529765:32529765(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12035T>C
AA Mutation p.Val4012Ala(p.V4012A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32518851:32518851(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11528T>A
AA Mutation p.Val3843Asp(p.V3843D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32479474:32479474(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7265C>T
AA Mutation p.Ala2422Val(p.A2422V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32501837:32501837(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758975775
CDS Mutation c.9156G>T
AA Mutation p.Met3052Ile(p.M3052I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32464723:32464723(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5156T>C
AA Mutation p.Val1719Ala(p.V1719A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32508100:32508100(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9821T>C
AA Mutation p.Val3274Ala(p.V3274A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32482474:32482474(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7588A>T
AA Mutation p.Thr2530Ser(p.T2530S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32515127:32515127(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10706C>A
AA Mutation p.Pro3569His(p.P3569H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32441372:32441372(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775469848
CDS Mutation c.3854G>A
AA Mutation p.Arg1285His(p.R1285H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32442383:32442383(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4166T>C
AA Mutation p.Val1389Ala(p.V1389A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32575191:32575191(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13180G>T
AA Mutation p.Ala4394Ser(p.A4394S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32477414:32477414(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768271303
CDS Mutation c.6899G>A
AA Mutation p.Arg2300His(p.R2300H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32499591:32499591(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8513A>C
AA Mutation p.Lys2838Thr(p.K2838T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32515507:32515507(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752759367
CDS Mutation c.11086A>G
AA Mutation p.Ser3696Gly(p.S3696G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32529681:32529681(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11951C>T
AA Mutation p.Ala3984Val(p.A3984V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32575159:32575159(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13148T>C
AA Mutation p.Leu4383Pro(p.L4383P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32508096:32508096(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9817G>A
AA Mutation p.Glu3273Lys(p.E3273K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32515214:32515214(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10793A>C
AA Mutation p.Asn3598Thr(p.N3598T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32464734:32464734(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776666613
CDS Mutation c.5167G>A
AA Mutation p.Glu1723Lys(p.E1723K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32470200:32470200(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6380G>T
AA Mutation p.Arg2127Ile(p.R2127I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32525596:32525596(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11888C>A
AA Mutation p.Pro3963Gln(p.P3963Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32575237:32575237(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13226T>C
AA Mutation p.Val4409Ala(p.V4409A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32436158:32436158(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3605C>T
AA Mutation p.Thr1202Met(p.T1202M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32476317:32476317(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749532024
CDS Mutation c.6825A>C
AA Mutation p.Gln2275His(p.Q2275H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32607558:32607558(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14174G>A
AA Mutation p.Arg4725Gln(p.R4725Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32448922:32448922(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4612C>A
AA Mutation p.Leu1538Ile(p.L1538I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000421745
Start 32463258:32463258(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761024593
CDS Mutation c.4818G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000421745
Start 32478661:32478661(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371974273
CDS Mutation c.7095G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000421745
Start 32463309:32463309(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4869A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000421745
Start 32433713:32433713(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3318C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000421745
Start 32499736:32499736(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs565916832
CDS Mutation c.8658C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000421745
Start 32469453:32469453(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6186C>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000421745
Start 32416093:32416093(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2802T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000421745
Start 32478733:32478733(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7167A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000421745
Start 32415394:32415394(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs142938281
CDS Mutation c.2103G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000421745
Start 32515146:32515146(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374767916
CDS Mutation c.10725T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000421745
Start 32599759:32599759(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13851G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000421745
Start 32543339:32543339(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12390T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 57
Mutation Consequence frameshift_variant
Transcription ID ENST00000421745
Start 32513095:32513098(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.10511_10514delGTTA
AA Mutation p.Ser3504MetfsTer5(p.S3504Mfs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 58
Mutation Consequence frameshift_variant
Transcription ID ENST00000421745
Start 32476268:32476268(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.6781delA
AA Mutation p.Ile2261TyrfsTer13(p.I2261Yfs*13)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 59
Mutation Consequence frameshift_variant
Transcription ID ENST00000421745
Start 32442431:32442431(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4216delC
AA Mutation p.Arg1406AspfsTer3(p.R1406Dfs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 60
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000421745
Start 32595034:32595034(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.13509delA
AA Mutation p.Lys4503AsnfsTer11(p.K4503Nfs*11)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 61
Mutation Consequence frameshift_variant
Transcription ID ENST00000421745
Start 32442131:32442131(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.4015delA
AA Mutation p.Thr1339GlnfsTer21(p.T1339Qfs*21)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 62
Mutation Consequence frameshift_variant
Transcription ID ENST00000421745
Start 32431053:32431053(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3211delG
AA Mutation p.Ala1071LeufsTer23(p.A1071Lfs*23)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 63
Mutation Consequence frameshift_variant
Transcription ID ENST00000421745
Start 32416027:32416027(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2740delA
AA Mutation p.Ile914TyrfsTer2(p.I914Yfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 64
Mutation Consequence frameshift_variant
Transcription ID ENST00000421745
Start 32464770:32464770(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.5207delC
AA Mutation p.Pro1736GlnfsTer17(p.P1736Qfs*17)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 65
Mutation Consequence frameshift_variant
Transcription ID ENST00000421745
Start 32515171:32515171(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.10754delA
AA Mutation p.Lys3585SerfsTer8(p.K3585Sfs*8)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 66
Mutation Consequence stop_gained
Transcription ID ENST00000421745
Start 32617878:32617878(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14548G>T
AA Mutation p.Glu4850Ter(p.E4850*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 67
Mutation Consequence stop_gained
Transcription ID ENST00000421745
Start 32529707:32529707(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11977C>T
AA Mutation p.Arg3993Ter(p.R3993*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 68
Mutation Consequence stop_gained
Transcription ID ENST00000421745
Start 32531537:32531537(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12277G>T
AA Mutation p.Glu4093Ter(p.E4093*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 69
Mutation Consequence stop_gained;inframe_insertion
Transcription ID ENST00000421745
Start 32524959:32524960(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.11696_11697insGTA
AA Mutation p.Lys3899_Glu3900insTer(p.K3899_E3900ins*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 70
Mutation Consequence frameshift_variant
Transcription ID ENST00000421745
Start 32380244:32380245(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.605dupA
AA Mutation p.Asn202LysfsTer5(p.N202Kfs*5)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 71
Mutation Consequence frameshift_variant
Transcription ID ENST00000421745
Start 32401379:32401380(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.1252dupA
AA Mutation p.Met418AsnfsTer8(p.M418Nfs*8)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 72
Mutation Consequence frameshift_variant
Transcription ID ENST00000421745
Start 32487769:32487770(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.7942dupT
AA Mutation p.Ser2648PhefsTer25(p.S2648Ffs*25)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 73
Mutation Consequence splice_donor_variant
Transcription ID ENST00000421745
Start 32594062:32594062(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13501+2T>C
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 74
Mutation Consequence splice_donor_variant
Transcription ID ENST00000421745
Start 32471126:32471126(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6592+2T>G
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 75
Mutation Consequence splice_donor_variant
Transcription ID ENST00000421745
Start 32392152:32392152(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.951+2T>C
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 76
Mutation Consequence inframe_insertion
Transcription ID ENST00000421745
Start 32518837:32518838(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.11514_11515insTTAGATATG
AA Mutation p.Asn3838_Ala3839insLeuAspMet(p.N3838_A3839insLDM)
Mutation Classification In_Frame_Ins
Feature Type Transcript
Mutation ID 77
Mutation Consequence protein_altering_variant
Transcription ID ENST00000421745
Start 32525496:32525497(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.11788_11789insAAAACAGAAATGTTC
AA Mutation p.Ala3930delinsGluAsnArgAsnValPro(p.A3930delinsENRNVP)
Mutation Classification In_Frame_Ins
Feature Type Transcript

Rectum Cancer: Gene >> BIRC6

Mutation ID 1
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000421745
Start 32597967:32597967(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13829A>C
AA Mutation p.Lys4610Thr(p.K4610T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32431066:32431066(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3224G>A
AA Mutation p.Arg1075Gln(p.R1075Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32465153:32465153(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5345G>A
AA Mutation p.Arg1782Gln(p.R1782Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32471111:32471111(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6579G>T
AA Mutation p.Lys2193Asn(p.K2193N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000421745
Start 32477581:32477581(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7066A>G
AA Mutation p.Lys2356Glu(p.K2356E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000421745
Start 32479464:32479464(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7255G>A
AA Mutation p.Glu2419Lys(p.E2419K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32508076:32508076(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9797A>C
AA Mutation p.Lys3266Thr(p.K3266T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32515462:32515462(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773665748
CDS Mutation c.11041G>A
AA Mutation p.Asp3681Asn(p.D3681N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32481331:32481331(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7420C>A
AA Mutation p.Leu2474Met(p.L2474M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32442422:32442422(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4205A>G
AA Mutation p.His1402Arg(p.H1402R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32508246:32508246(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9967G>A
AA Mutation p.Val3323Ile(p.V3323I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32594045:32594045(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13486C>T
AA Mutation p.Arg4496Trp(p.R4496W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32442362:32442362(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777368785
CDS Mutation c.4145G>A
AA Mutation p.Arg1382Gln(p.R1382Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32501744:32501744(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9063A>C
AA Mutation p.Glu3021Asp(p.E3021D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32467642:32467642(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370894404
CDS Mutation c.5474A>G
AA Mutation p.Glu1825Gly(p.E1825G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32529735:32529735(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12005T>A
AA Mutation p.Ile4002Lys(p.I4002K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000421745
Start 32549470:32549470(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs146403054
CDS Mutation c.13133G>A
AA Mutation p.Arg4378Gln(p.R4378Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence synonymous_variant
Transcription ID ENST00000421745
Start 32487687:32487687(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7854G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 19
Mutation Consequence synonymous_variant
Transcription ID ENST00000421745
Start 32442381:32442381(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs570884165
CDS Mutation c.4164C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 20
Mutation Consequence synonymous_variant
Transcription ID ENST00000421745
Start 32467592:32467592(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5424T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 21
Mutation Consequence synonymous_variant
Transcription ID ENST00000421745
Start 32429165:32429165(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2892C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 22
Mutation Consequence synonymous_variant
Transcription ID ENST00000421745
Start 32545830:32545830(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12780A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 23
Mutation Consequence synonymous_variant
Transcription ID ENST00000421745
Start 32435530:32435530(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775264551
CDS Mutation c.3444G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 24
Mutation Consequence synonymous_variant
Transcription ID ENST00000421745
Start 32499799:32499799(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8721A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 25
Mutation Consequence frameshift_variant
Transcription ID ENST00000421745
Start 32477541:32477541(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.7027delG
AA Mutation p.Asp2343ThrfsTer33(p.D2343Tfs*33)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 26
Mutation Consequence stop_gained
Transcription ID ENST00000421745
Start 32477431:32477431(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6916G>T
AA Mutation p.Glu2306Ter(p.E2306*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence stop_gained
Transcription ID ENST00000421745
Start 32415296:32415296(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2005G>T
AA Mutation p.Glu669Ter(p.E669*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence stop_gained
Transcription ID ENST00000421745
Start 32524962:32524962(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11698G>T
AA Mutation p.Glu3900Ter(p.E3900*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript