Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> COL1A1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000225964
Start 50186396:50186396(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3926A>G
AA Mutation p.Gln1309Arg(p.Q1309R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000225964
Start 50199906:50199906(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.145G>C
AA Mutation p.Asp49His(p.D49H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000225964
Start 50186912:50186912(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3542G>A
AA Mutation p.Gly1181Asp(p.G1181D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000225964
Start 50188783:50188783(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3058G>A
AA Mutation p.Ala1020Thr(p.A1020T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000225964
Start 50195969:50195969(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1010C>T
AA Mutation p.Thr337Ile(p.T337I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000225964
Start 50197212:50197212(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772223365
CDS Mutation c.718C>T
AA Mutation p.Arg240Cys(p.R240C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000225964
Start 50190027:50190027(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs72653136
CDS Mutation c.2533G>A
AA Mutation p.Gly845Arg(p.G845R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000225964
Start 50186660:50186660(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3794G>A
AA Mutation p.Cys1265Tyr(p.C1265Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000225964
Start 50187973:50187973(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3272G>A
AA Mutation p.Gly1091Asp(p.G1091D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000225964
Start 50185861:50185861(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4165C>T
AA Mutation p.Leu1389Phe(p.L1389F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000225964
Start 50196193:50196193(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777644312
CDS Mutation c.964C>T
AA Mutation p.Arg322Cys(p.R322C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000225964
Start 50194447:50194447(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1516G>T
AA Mutation p.Gly506Cys(p.G506C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000225964
Start 50190861:50190861(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs72651658
CDS Mutation c.2299G>A
AA Mutation p.Gly767Ser(p.G767S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000225964
Start 50189876:50189876(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs67445413
CDS Mutation c.2596G>A
AA Mutation p.Gly866Ser(p.G866S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000225964
Start 50199584:50199584(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.305C>A
AA Mutation p.Pro102His(p.P102H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000225964
Start 50192653:50192653(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1916C>G
AA Mutation p.Ser639Cys(p.S639C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000225964
Start 50186865:50186865(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3589G>A
AA Mutation p.Asp1197Asn(p.D1197N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000225964
Start 50189478:50189478(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2728C>T
AA Mutation p.Arg910Cys(p.R910C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence synonymous_variant
Transcription ID ENST00000225964
Start 50191452:50191452(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200188855
CDS Mutation c.2166C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 20
Mutation Consequence synonymous_variant
Transcription ID ENST00000225964
Start 50191452:50191452(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2166C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 21
Mutation Consequence synonymous_variant
Transcription ID ENST00000225964
Start 50191866:50191866(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2049C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 22
Mutation Consequence synonymous_variant
Transcription ID ENST00000225964
Start 50186824:50186824(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745320719
CDS Mutation c.3630C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 23
Mutation Consequence synonymous_variant
Transcription ID ENST00000225964
Start 50190877:50190877(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759665341
CDS Mutation c.2283C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 24
Mutation Consequence synonymous_variant
Transcription ID ENST00000225964
Start 50194036:50194036(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs578167693
CDS Mutation c.1674C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 25
Mutation Consequence synonymous_variant
Transcription ID ENST00000225964
Start 50197961:50197961(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758336790
CDS Mutation c.630G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 26
Mutation Consequence frameshift_variant
Transcription ID ENST00000225964
Start 50190354:50190354(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2424delC
AA Mutation p.Gly809AlafsTer299(p.G809Afs*299)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 27
Mutation Consequence frameshift_variant
Transcription ID ENST00000225964
Start 50196361:50196361(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.910delC
AA Mutation p.Arg304ValfsTer237(p.R304Vfs*237)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 28
Mutation Consequence frameshift_variant
Transcription ID ENST00000225964
Start 50186914:50186914(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3540delC
AA Mutation p.Gly1181AlafsTer58(p.G1181Afs*58)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 29
Mutation Consequence frameshift_variant
Transcription ID ENST00000225964
Start 50192807:50192807(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs72651620
CDS Mutation c.1865delC
AA Mutation p.Pro622LeufsTer144(p.P622Lfs*144)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 30
Mutation Consequence stop_gained
Transcription ID ENST00000225964
Start 50194768:50194768(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs72648343
CDS Mutation c.1414C>T
AA Mutation p.Arg472Ter(p.R472*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript

Rectum Cancer: Gene >> COL1A1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000225964
Start 50196330:50196330(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.941G>A
AA Mutation p.Gly314Glu(p.G314E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence synonymous_variant
Transcription ID ENST00000225964
Start 50185508:50185508(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4389C>T
Mutation Classification Silent
Feature Type Transcript