Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> COL4A5

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000361603
Start 108440187:108440187(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.62G>A
AA Mutation p.Gly21Glu(p.G21E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000361603
Start 108584524:108584524(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1031T>G
AA Mutation p.Leu344Arg(p.L344R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000361603
Start 108626312:108626312(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3209T>G
AA Mutation p.Ile1070Ser(p.I1070S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000361603
Start 108625750:108625750(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3062G>A
AA Mutation p.Gly1021Glu(p.G1021E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000361603
Start 108668346:108668346(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3632G>T
AA Mutation p.Gly1211Val(p.G1211V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000361603
Start 108595520:108595520(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752399898
CDS Mutation c.1435G>T
AA Mutation p.Asp479Tyr(p.D479Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000361603
Start 108573595:108573595(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.487A>G
AA Mutation p.Met163Val(p.M163V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000361603
Start 108686060:108686060(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs104886270
CDS Mutation c.4228C>T
AA Mutation p.Arg1410Cys(p.R1410C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000361603
Start 108586689:108586689(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1107A>C
AA Mutation p.Glu369Asp(p.E369D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000361603
Start 108606757:108606757(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2260G>C
AA Mutation p.Ala754Pro(p.A754P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000361603
Start 108598736:108598736(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1814C>A
AA Mutation p.Pro605His(p.P605H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000361603
Start 108563921:108563921(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.271A>T
AA Mutation p.Ile91Phe(p.I91F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000361603
Start 108666556:108666556(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3515A>T
AA Mutation p.Asp1172Val(p.D1172V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000361603
Start 108694857:108694857(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768320352
CDS Mutation c.4739C>T
AA Mutation p.Thr1580Met(p.T1580M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000361603
Start 108677633:108677633(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3924G>T
AA Mutation p.Gln1308His(p.Q1308H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000361603
Start 108591148:108591148(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1256C>A
AA Mutation p.Pro419His(p.P419H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000361603
Start 108692892:108692892(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4655T>C
AA Mutation p.Leu1552Pro(p.L1552P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000361603
Start 108692771:108692771(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4534C>T
AA Mutation p.Arg1512Cys(p.R1512C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000361603
Start 108621889:108621889(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2764A>G
AA Mutation p.Lys922Glu(p.K922E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000361603
Start 108582897:108582897(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.950A>G
AA Mutation p.Asp317Gly(p.D317G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000361603
Start 108621866:108621866(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2741G>A
AA Mutation p.Gly914Asp(p.G914D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000361603
Start 108655367:108655367(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3283G>T
AA Mutation p.Gly1095Cys(p.G1095C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence synonymous_variant
Transcription ID ENST00000361603
Start 108668476:108668476(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3762T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 24
Mutation Consequence synonymous_variant
Transcription ID ENST00000361603
Start 108620353:108620353(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781337825
CDS Mutation c.2604C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 25
Mutation Consequence synonymous_variant
Transcription ID ENST00000361603
Start 108666566:108666566(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3525T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 26
Mutation Consequence synonymous_variant
Transcription ID ENST00000361603
Start 108625718:108625718(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3030C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 27
Mutation Consequence synonymous_variant
Transcription ID ENST00000361603
Start 108591158:108591158(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1266T>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 28
Mutation Consequence synonymous_variant
Transcription ID ENST00000361603
Start 108620350:108620350(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2601C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 29
Mutation Consequence frameshift_variant
Transcription ID ENST00000361603
Start 108581005:108581005(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.917delA
AA Mutation p.Asn306MetfsTer40(p.N306Mfs*40)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 30
Mutation Consequence stop_gained
Transcription ID ENST00000361603
Start 108591617:108591617(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1396G>T
AA Mutation p.Gly466Ter(p.G466*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence stop_gained
Transcription ID ENST00000361603
Start 108668459:108668459(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3745G>T
AA Mutation p.Gly1249Ter(p.G1249*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence stop_gained
Transcription ID ENST00000361603
Start 108586687:108586687(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1105G>T
AA Mutation p.Glu369Ter(p.E369*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence stop_gained
Transcription ID ENST00000361603
Start 108602990:108602990(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2173G>T
AA Mutation p.Gly725Ter(p.G725*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence stop_gained
Transcription ID ENST00000361603
Start 108686102:108686102(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4270G>T
AA Mutation p.Gly1424Ter(p.G1424*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence frameshift_variant
Transcription ID ENST00000361603
Start 108692793:108692794(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4556_4557insA
AA Mutation p.Met1519IlefsTer7(p.M1519Ifs*7)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 36
Mutation Consequence frameshift_variant
Transcription ID ENST00000361603
Start 108692794:108692795(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4557_4558insGTAATAAATATACTATA
AA Mutation p.Phe1520ValfsTer34(p.F1520Vfs*34)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> COL4A5

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000361603
Start 108692772:108692772(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4535G>A
AA Mutation p.Arg1512His(p.R1512H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000361603
Start 108602993:108602993(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2176G>T
AA Mutation p.Ala726Ser(p.A726S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000361603
Start 108692785:108692785(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4548G>C
AA Mutation p.Met1516Ile(p.M1516I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000361603
Start 108655424:108655424(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3340G>A
AA Mutation p.Ala1114Thr(p.A1114T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000361603
Start 108581011:108581011(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs104886082
CDS Mutation c.920G>A
AA Mutation p.Gly307Asp(p.G307D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000361603
Start 108568768:108568768(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.331G>A
AA Mutation p.Gly111Ser(p.G111S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000361603
Start 108591644:108591644(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1423G>T
AA Mutation p.Gly475Cys(p.G475C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence synonymous_variant
Transcription ID ENST00000361603
Start 108668365:108668365(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3651C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000361603
Start 108591227:108591227(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1335T>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000361603
Start 108694858:108694858(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761701751
CDS Mutation c.4740G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 11
Mutation Consequence synonymous_variant
Transcription ID ENST00000361603
Start 108597517:108597517(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1728C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 12
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000361603
Start 108606741:108606741(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2245-1G>T
Mutation Classification Splice_Site
Feature Type Transcript