Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> COL5A2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000374866
Start 189034212:189034212(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs149064715
CDS Mutation c.4358G>A
AA Mutation p.Arg1453Gln(p.R1453Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000374866
Start 189045228:189045228(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3314C>A
AA Mutation p.Ser1105Tyr(p.S1105Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000374866
Start 189050597:189050597(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3011G>T
AA Mutation p.Arg1004Ile(p.R1004I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000374866
Start 189063992:189063992(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1758A>C
AA Mutation p.Lys586Asn(p.K586N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000374866
Start 189068043:189068043(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1373C>G
AA Mutation p.Thr458Ser(p.T458S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000374866
Start 189057366:189057366(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs150260969
CDS Mutation c.2291C>T
AA Mutation p.Pro764Leu(p.P764L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000374866
Start 189085723:189085723(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.740C>A
AA Mutation p.Pro247Gln(p.P247Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000374866
Start 189035095:189035095(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4174C>A
AA Mutation p.Leu1392Ile(p.L1392I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000374866
Start 189052968:189052968(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2604G>T
AA Mutation p.Gln868His(p.Q868H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000374866
Start 189068859:189068859(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766119748
CDS Mutation c.1184G>A
AA Mutation p.Arg395Gln(p.R395Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000374866
Start 189035097:189035097(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4172G>C
AA Mutation p.Arg1391Pro(p.R1391P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000374866
Start 189043242:189043242(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770497804
CDS Mutation c.3380G>A
AA Mutation p.Arg1127His(p.R1127H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000374866
Start 189098746:189098746(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757439328
CDS Mutation c.383G>A
AA Mutation p.Arg128His(p.R128H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000374866
Start 189034158:189034158(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781760462
CDS Mutation c.4412G>A
AA Mutation p.Arg1471His(p.R1471H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000374866
Start 189049429:189049429(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3065C>G
AA Mutation p.Thr1022Ser(p.T1022S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000374866
Start 189051415:189051415(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2836G>A
AA Mutation p.Asp946Asn(p.D946N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000374866
Start 189051372:189051372(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2879G>C
AA Mutation p.Gly960Ala(p.G960A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000374866
Start 189039431:189039431(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3766G>A
AA Mutation p.Ala1256Thr(p.A1256T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000374866
Start 189036689:189036689(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4040A>C
AA Mutation p.Lys1347Thr(p.K1347T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000374866
Start 189065008:189065008(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1613C>A
AA Mutation p.Pro538Gln(p.P538Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000374866
Start 189051420:189051420(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761988412
CDS Mutation c.2831G>A
AA Mutation p.Arg944His(p.R944H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000374866
Start 189045801:189045801(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs150401168
CDS Mutation c.3308C>T
AA Mutation p.Pro1103Leu(p.P1103L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000374866
Start 189039317:189039317(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758136981
CDS Mutation c.3880C>T
AA Mutation p.Arg1294Cys(p.R1294C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence synonymous_variant
Transcription ID ENST00000374866
Start 189079069:189079069(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.999T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 25
Mutation Consequence synonymous_variant
Transcription ID ENST00000374866
Start 189110262:189110262(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.285C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 26
Mutation Consequence synonymous_variant
Transcription ID ENST00000374866
Start 189051464:189051464(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs151027388
CDS Mutation c.2787G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 27
Mutation Consequence synonymous_variant
Transcription ID ENST00000374866
Start 189036721:189036721(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4008T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 28
Mutation Consequence synonymous_variant
Transcription ID ENST00000374866
Start 189075417:189075417(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1080T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 29
Mutation Consequence synonymous_variant
Transcription ID ENST00000374866
Start 189053013:189053013(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2559T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 30
Mutation Consequence synonymous_variant
Transcription ID ENST00000374866
Start 189034103:189034103(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs531204336
CDS Mutation c.4467C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 31
Mutation Consequence synonymous_variant
Transcription ID ENST00000374866
Start 189068861:189068861(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs148229627
CDS Mutation c.1182G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 32
Mutation Consequence synonymous_variant
Transcription ID ENST00000374866
Start 189039333:189039333(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754605516
CDS Mutation c.3864G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 33
Mutation Consequence synonymous_variant
Transcription ID ENST00000374866
Start 189060772:189060772(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2043T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 34
Mutation Consequence synonymous_variant
Transcription ID ENST00000374866
Start 189086750:189086750(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.666A>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 35
Mutation Consequence frameshift_variant
Transcription ID ENST00000374866
Start 189064598:189064598(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1675delG
AA Mutation p.Asp559IlefsTer16(p.D559Ifs*16)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 36
Mutation Consequence stop_gained
Transcription ID ENST00000374866
Start 189052189:189052189(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2752G>T
AA Mutation p.Gly918Ter(p.G918*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence frameshift_variant
Transcription ID ENST00000374866
Start 189035099:189035100(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.4169dupT
AA Mutation p.Leu1390PhefsTer17(p.L1390Ffs*17)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 38
Mutation Consequence frameshift_variant
Transcription ID ENST00000374866
Start 189078541:189078542(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.1032_1033dupAG
AA Mutation p.Gly345GlufsTer42(p.G345Efs*42)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 39
Mutation Consequence frameshift_variant
Transcription ID ENST00000374866
Start 189035106:189035107(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4162_4163insACCACAG
AA Mutation p.Thr1388AsnfsTer21(p.T1388Nfs*21)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 40
Mutation Consequence splice_donor_variant
Transcription ID ENST00000374866
Start 189039270:189039270(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3925+2T>C
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> COL5A2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000374866
Start 189079097:189079097(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.971G>C
AA Mutation p.Gly324Ala(p.G324A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000374866
Start 189052180:189052180(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2761G>A
AA Mutation p.Gly921Ser(p.G921S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000374866
Start 189039461:189039461(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3736G>T
AA Mutation p.Asp1246Tyr(p.D1246Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000374866
Start 189058850:189058850(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2129G>T
AA Mutation p.Arg710Ile(p.R710I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000374866
Start 189034213:189034213(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760569641
CDS Mutation c.4357C>T
AA Mutation p.Arg1453Trp(p.R1453W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000374866
Start 189045812:189045812(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3297A>C
AA Mutation p.Gln1099His(p.Q1099H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000374866
Start 189068065:189068065(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs548441536
CDS Mutation c.1351T>C
AA Mutation p.Ser451Pro(p.S451P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence synonymous_variant
Transcription ID ENST00000374866
Start 189034100:189034100(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs142895373
CDS Mutation c.4470C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 9
Mutation Consequence stop_gained
Transcription ID ENST00000374866
Start 189058521:189058521(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2137C>T
AA Mutation p.Arg713Ter(p.R713*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript