Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> COL1A2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000297268
Start 94429220:94429220(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3744G>T
AA Mutation p.Lys1248Asn(p.K1248N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000297268
Start 94425129:94425129(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2686C>T
AA Mutation p.Pro896Ser(p.P896S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000297268
Start 94425819:94425819(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765448220
CDS Mutation c.2905G>A
AA Mutation p.Val969Met(p.V969M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000297268
Start 94429335:94429335(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3859A>G
AA Mutation p.Lys1287Glu(p.K1287E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000297268
Start 94422961:94422961(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2408T>G
AA Mutation p.Ile803Ser(p.I803S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000297268
Start 94409409:94409409(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs145693444
CDS Mutation c.880G>A
AA Mutation p.Val294Ile(p.V294I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000297268
Start 94425805:94425805(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2891G>C
AA Mutation p.Gly964Ala(p.G964A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000297268
Start 94424393:94424393(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2623C>A
AA Mutation p.Leu875Ile(p.L875I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000297268
Start 94423005:94423005(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767839892
CDS Mutation c.2452C>A
AA Mutation p.Leu818Ile(p.L818I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000297268
Start 94395051:94395051(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs543810166
CDS Mutation c.20C>T
AA Mutation p.Thr7Met(p.T7M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000297268
Start 94400242:94400242(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.179G>A
AA Mutation p.Gly60Asp(p.G60D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000297268
Start 94425201:94425201(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2758G>A
AA Mutation p.Ala920Thr(p.A920T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000297268
Start 94427272:94427272(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3244C>T
AA Mutation p.Pro1082Ser(p.P1082S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000297268
Start 94410937:94410937(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs550867796
CDS Mutation c.1246G>A
AA Mutation p.Val416Ile(p.V416I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000297268
Start 94408369:94408369(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764373659
CDS Mutation c.727G>A
AA Mutation p.Val243Met(p.V243M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000297268
Start 94413699:94413699(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1567G>A
AA Mutation p.Gly523Ser(p.G523S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000297268
Start 94405703:94405703(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.517C>T
AA Mutation p.Leu173Phe(p.L173F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000297268
Start 94425847:94425847(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs559605075
CDS Mutation c.2933G>A
AA Mutation p.Arg978His(p.R978H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000297268
Start 94421027:94421027(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2314G>T
AA Mutation p.Gly772Cys(p.G772C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000297268
Start 94410901:94410901(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1210T>C
AA Mutation p.Ser404Pro(p.S404P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000297268
Start 94425219:94425219(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745363291
CDS Mutation c.2776C>T
AA Mutation p.Arg926Cys(p.R926C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000297268
Start 94420594:94420594(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2241G>T
AA Mutation p.Lys747Asn(p.K747N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000297268
Start 94410895:94410895(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1204C>T
AA Mutation p.Pro402Ser(p.P402S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000297268
Start 94410919:94410919(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1228G>A
AA Mutation p.Ala410Thr(p.A410T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000297268
Start 94408346:94408346(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.704G>A
AA Mutation p.Gly235Asp(p.G235D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence synonymous_variant
Transcription ID ENST00000297268
Start 94421943:94421943(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2394A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 27
Mutation Consequence synonymous_variant
Transcription ID ENST00000297268
Start 94423070:94423070(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2517C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 28
Mutation Consequence synonymous_variant
Transcription ID ENST00000297268
Start 94409366:94409366(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.837C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 29
Mutation Consequence synonymous_variant
Transcription ID ENST00000297268
Start 94420603:94420603(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372783567
CDS Mutation c.2250C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 30
Mutation Consequence synonymous_variant
Transcription ID ENST00000297268
Start 94425624:94425624(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757671800
CDS Mutation c.2796C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 31
Mutation Consequence synonymous_variant
Transcription ID ENST00000297268
Start 94420408:94420408(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs763380136
CDS Mutation c.2151C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 32
Mutation Consequence synonymous_variant
Transcription ID ENST00000297268
Start 94425194:94425194(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2751C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 33
Mutation Consequence synonymous_variant
Transcription ID ENST00000297268
Start 94420624:94420624(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750379228
CDS Mutation c.2271C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 34
Mutation Consequence synonymous_variant
Transcription ID ENST00000297268
Start 94427671:94427671(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3312C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 35
Mutation Consequence synonymous_variant
Transcription ID ENST00000297268
Start 94421026:94421026(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs144837722
CDS Mutation c.2313C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 36
Mutation Consequence synonymous_variant
Transcription ID ENST00000297268
Start 94409752:94409752(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.966C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 37
Mutation Consequence frameshift_variant
Transcription ID ENST00000297268
Start 94423068:94423068(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2519delC
AA Mutation p.Pro840LeufsTer183(p.P840Lfs*183)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 38
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000297268
Start 94427629:94427629(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3275delC
AA Mutation p.Pro1092LeufsTer12(p.P1092Lfs*12)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 39
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000297268
Start 94421898:94421898(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2350-1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 40
Mutation Consequence inframe_deletion
Transcription ID ENST00000297268
Start 94419506:94419508(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2036_2038delGTG
AA Mutation p.Gly679del(p.G679del)
Mutation Classification In_Frame_Del
Feature Type Transcript
Mutation ID 41
Mutation Consequence protein_altering_variant
Transcription ID ENST00000297268
Start 94423062:94423063(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2509_2510insCAAAGA
AA Mutation p.Val837delinsAlaLysIle(p.V837delinsAKI)
Mutation Classification In_Frame_Ins
Feature Type Transcript
Mutation ID 42
Mutation Consequence start_lost
Transcription ID ENST00000297268
Start 94395032:94395032(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1A>G
AA Mutation p.Met1?(p.M1?)
Mutation Classification Translation_Start_Site
Feature Type Transcript

Rectum Cancer: Gene >> COL1A2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000297268
Start 94404714:94404714(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs532334520
CDS Mutation c.346C>A
AA Mutation p.Pro116Thr(p.P116T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000297268
Start 94426001:94426001(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2947C>A
AA Mutation p.Pro983Thr(p.P983T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000297268
Start 94421929:94421929(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759251034
CDS Mutation c.2380C>T
AA Mutation p.Arg794Trp(p.R794W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000297268
Start 94425141:94425141(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2698G>T
AA Mutation p.Ala900Ser(p.A900S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000297268
Start 94428328:94428328(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751066207
CDS Mutation c.3562A>G
AA Mutation p.Met1188Val(p.M1188V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000297268
Start 94405217:94405217(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.451G>A
AA Mutation p.Gly151Arg(p.G151R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence synonymous_variant
Transcription ID ENST00000297268
Start 94412094:94412094(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770230919
CDS Mutation c.1377C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 8
Mutation Consequence frameshift_variant
Transcription ID ENST00000297268
Start 94421021:94421021(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2313delC
AA Mutation p.Gly772ValfsTer14(p.G772Vfs*14)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 9
Mutation Consequence splice_donor_variant
Transcription ID ENST00000297268
Start 94397760:94397760(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.81+2T>A
Mutation Classification Splice_Site
Feature Type Transcript