Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> COL6A3

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237374594:237374594(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3497G>T
AA Mutation p.Gly1166Val(p.G1166V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237378666:237378666(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2467G>T
AA Mutation p.Gly823Cys(p.G823C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237379155:237379155(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774531619
CDS Mutation c.1978G>A
AA Mutation p.Asp660Asn(p.D660N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237377087:237377087(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs114563217
CDS Mutation c.2755G>A
AA Mutation p.Ala919Thr(p.A919T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237367279:237367279(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4908G>T
AA Mutation p.Lys1636Asn(p.K1636N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237369139:237369139(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772700553
CDS Mutation c.4324G>A
AA Mutation p.Asp1442Asn(p.D1442N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237376914:237376914(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2928G>T
AA Mutation p.Lys976Asn(p.K976N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237377086:237377086(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs115327470
CDS Mutation c.2756C>T
AA Mutation p.Ala919Val(p.A919V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237374634:237374634(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767960391
CDS Mutation c.3457G>A
AA Mutation p.Val1153Met(p.V1153M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237340593:237340593(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8323G>A
AA Mutation p.Gly2775Ser(p.G2775S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237334727:237334727(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs552651651
CDS Mutation c.9128G>A
AA Mutation p.Arg3043His(p.R3043H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237374804:237374804(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200860322
CDS Mutation c.3287G>A
AA Mutation p.Arg1096His(p.R1096H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237371914:237371914(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs116505603
CDS Mutation c.4103C>T
AA Mutation p.Thr1368Met(p.T1368M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237374720:237374720(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374447921
CDS Mutation c.3371C>T
AA Mutation p.Ala1124Val(p.A1124V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237365810:237365810(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5726A>C
AA Mutation p.Glu1909Ala(p.E1909A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237387909:237387909(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.985G>T
AA Mutation p.Val329Leu(p.V329L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237387774:237387774(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs780353083
CDS Mutation c.1120G>A
AA Mutation p.Val374Met(p.V374M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237374892:237374892(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs148175795
CDS Mutation c.3199G>A
AA Mutation p.Val1067Met(p.V1067M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237380981:237380981(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372255458
CDS Mutation c.1831G>A
AA Mutation p.Ala611Thr(p.A611T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237387921:237387921(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.973G>A
AA Mutation p.Ala325Thr(p.A325T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237334725:237334725(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374628435
CDS Mutation c.9130G>A
AA Mutation p.Val3044Ile(p.V3044I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237350157:237350157(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs398124131
CDS Mutation c.6869G>A
AA Mutation p.Arg2290His(p.R2290H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237365913:237365913(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5623G>A
AA Mutation p.Val1875Ile(p.V1875I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000295550
Start 237345058:237345058(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764688620
CDS Mutation c.7162C>T
AA Mutation p.Pro2388Ser(p.P2388S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237378846:237378846(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2287G>A
AA Mutation p.Ala763Thr(p.A763T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237361819:237361819(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770907851
CDS Mutation c.6076G>A
AA Mutation p.Glu2026Lys(p.E2026K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237375007:237375007(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3084G>T
AA Mutation p.Lys1028Asn(p.K1028N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237371747:237371747(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768522226
CDS Mutation c.4270C>T
AA Mutation p.Arg1424Cys(p.R1424C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237325578:237325578(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9475G>A
AA Mutation p.Glu3159Lys(p.E3159K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237394649:237394649(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.647G>A
AA Mutation p.Cys216Tyr(p.C216Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237341082:237341082(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7834G>A
AA Mutation p.Ala2612Thr(p.A2612T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237365759:237365759(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs763172498
CDS Mutation c.5777C>T
AA Mutation p.Thr1926Met(p.T1926M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237361747:237361747(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6148G>A
AA Mutation p.Gly2050Arg(p.G2050R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237340509:237340509(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781514010
CDS Mutation c.8407G>A
AA Mutation p.Glu2803Lys(p.E2803K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000295550
Start 237352524:237352524(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs116690555
CDS Mutation c.6751C>T
AA Mutation p.Arg2251Trp(p.R2251W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000295550
Start 237348384:237348384(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6931G>A
AA Mutation p.Gly2311Arg(p.G2311R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237374805:237374805(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs114852262
CDS Mutation c.3286C>T
AA Mutation p.Arg1096Cys(p.R1096C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237374894:237374894(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768971873
CDS Mutation c.3197G>A
AA Mutation p.Arg1066His(p.R1066H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237368902:237368902(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4561G>A
AA Mutation p.Glu1521Lys(p.E1521K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237379144:237379144(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1989G>T
AA Mutation p.Met663Ile(p.M663I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237394738:237394738(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.558A>C
AA Mutation p.Lys186Asn(p.K186N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237387677:237387677(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753651742
CDS Mutation c.1217G>A
AA Mutation p.Arg406His(p.R406H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237341061:237341061(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756654349
CDS Mutation c.7855G>A
AA Mutation p.Asp2619Asn(p.D2619N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237342113:237342113(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7717G>T
AA Mutation p.Asp2573Tyr(p.D2573Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237358549:237358549(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6443G>T
AA Mutation p.Arg2148Ile(p.R2148I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 46
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237378830:237378830(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs575412915
CDS Mutation c.2303G>A
AA Mutation p.Arg768His(p.R768H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 47
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237336279:237336279(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8821G>A
AA Mutation p.Ala2941Thr(p.A2941T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 48
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237357843:237357843(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6511G>A
AA Mutation p.Gly2171Arg(p.G2171R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 49
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237359056:237359056(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6387G>T
AA Mutation p.Glu2129Asp(p.E2129D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 50
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237377038:237377038(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762016120
CDS Mutation c.2804G>A
AA Mutation p.Arg935Gln(p.R935Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 51
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237378735:237378735(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2398G>A
AA Mutation p.Asp800Asn(p.D800N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 52
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237388179:237388179(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.715G>T
AA Mutation p.Asp239Tyr(p.D239Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 53
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237366969:237366969(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5218G>A
AA Mutation p.Asp1740Asn(p.D1740N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 54
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237340908:237340908(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs398124135
CDS Mutation c.8008G>A
AA Mutation p.Ala2670Thr(p.A2670T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 55
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237371834:237371834(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs73998894
CDS Mutation c.4183C>T
AA Mutation p.Arg1395Trp(p.R1395W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 56
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237374973:237374973(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs78427077
CDS Mutation c.3118G>A
AA Mutation p.Val1040Ile(p.V1040I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 57
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237334726:237334726(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs10201909
CDS Mutation c.9129C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 58
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237377034:237377034(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs116256579
CDS Mutation c.2808C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 59
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237377250:237377250(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2592T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 60
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237394618:237394618(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.678T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 61
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237368729:237368729(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774809714
CDS Mutation c.4734C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 62
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237372153:237372153(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3864C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 63
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237336463:237336463(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8637G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 64
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237394882:237394882(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs148996231
CDS Mutation c.414C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 65
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237336364:237336364(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779670941
CDS Mutation c.8736G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 66
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237360145:237360145(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368711215
CDS Mutation c.6225G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 67
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237341038:237341038(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs145136426
CDS Mutation c.7878C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 68
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237368849:237368849(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199759398
CDS Mutation c.4614C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 69
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237372228:237372228(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779279055
CDS Mutation c.3789C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 70
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237381189:237381189(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs114144694
CDS Mutation c.1623C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 71
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237374635:237374635(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs112815265
CDS Mutation c.3456C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 72
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237379129:237379129(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2004C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 73
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237336328:237336328(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8772C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 74
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237336517:237336517(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375994186
CDS Mutation c.8583C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 75
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237379198:237379198(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1935T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 76
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237376869:237376869(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs541545591
CDS Mutation c.2973G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 77
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237361748:237361748(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs536959688
CDS Mutation c.6147C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 78
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237379213:237379213(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1920C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 79
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237366844:237366844(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767676914
CDS Mutation c.5343C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 80
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237336355:237336355(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs112382351
CDS Mutation c.8745G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 81
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237394744:237394744(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs542204130
CDS Mutation c.552G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 82
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237374545:237374545(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3546G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 83
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237394834:237394834(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773051161
CDS Mutation c.462G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 84
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237344662:237344662(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs569662223
CDS Mutation c.7356C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 85
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237394945:237394945(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.351G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 86
Mutation Consequence frameshift_variant
Transcription ID ENST00000295550
Start 237336232:237336232(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.8868delT
AA Mutation p.Ala2957LeufsTer44(p.A2957Lfs*44)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 87
Mutation Consequence frameshift_variant
Transcription ID ENST00000295550
Start 237336234:237336234(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.8866delG
AA Mutation p.Ala2956LeufsTer45(p.A2956Lfs*45)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 88
Mutation Consequence frameshift_variant
Transcription ID ENST00000295550
Start 237348359:237348359(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.6956delC
AA Mutation p.Pro2319GlnfsTer12(p.P2319Qfs*12)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 89
Mutation Consequence frameshift_variant
Transcription ID ENST00000295550
Start 237366876:237366876(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.5311delG
AA Mutation p.Val1771SerfsTer8(p.V1771Sfs*8)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 90
Mutation Consequence frameshift_variant
Transcription ID ENST00000295550
Start 237334810:237334810(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.9045delC
AA Mutation p.Gly3016ValfsTer19(p.G3016Vfs*19)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 91
Mutation Consequence frameshift_variant
Transcription ID ENST00000295550
Start 237354908:237354908(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.6618delC
AA Mutation p.Gly2207GlufsTer35(p.G2207Efs*35)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 92
Mutation Consequence frameshift_variant
Transcription ID ENST00000295550
Start 237381296:237381296(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1516delA
AA Mutation p.Arg506GlyfsTer4(p.R506Gfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 93
Mutation Consequence stop_gained
Transcription ID ENST00000295550
Start 237325669:237325669(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9384G>A
AA Mutation p.Trp3128Ter(p.W3128*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 94
Mutation Consequence stop_gained
Transcription ID ENST00000295550
Start 237366747:237366747(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5440G>T
AA Mutation p.Glu1814Ter(p.E1814*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 95
Mutation Consequence frameshift_variant
Transcription ID ENST00000295550
Start 237366878:237366879(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.5308_5309insTTACACCA
AA Mutation p.Gly1770ValfsTer12(p.G1770Vfs*12)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 96
Mutation Consequence splice_donor_variant
Transcription ID ENST00000295550
Start 237345179:237345179(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7125+2T>C
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 97
Mutation Consequence splice_donor_variant
Transcription ID ENST00000295550
Start 237342063:237342063(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7765+2T>C
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> COL6A3

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237336275:237336275(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757146083
CDS Mutation c.8825C>T
AA Mutation p.Ala2942Val(p.A2942V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237339043:237339043(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8539A>G
AA Mutation p.Asn2847Asp(p.N2847D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237381310:237381310(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776324215
CDS Mutation c.1502C>T
AA Mutation p.Thr501Ile(p.T501I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237340938:237340938(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7978C>A
AA Mutation p.His2660Asn(p.H2660N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237380981:237380981(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372255458
CDS Mutation c.1831G>A
AA Mutation p.Ala611Thr(p.A611T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237336464:237336464(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs150907698
CDS Mutation c.8636C>T
AA Mutation p.Thr2879Met(p.T2879M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237381182:237381182(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749113845
CDS Mutation c.1630C>T
AA Mutation p.Arg544Trp(p.R544W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237340673:237340673(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs115595706
CDS Mutation c.8243C>T
AA Mutation p.Pro2748Leu(p.P2748L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237379151:237379151(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1982T>G
AA Mutation p.Phe661Cys(p.F661C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237351177:237351177(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372154635
CDS Mutation c.6769G>A
AA Mutation p.Ala2257Thr(p.A2257T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237360107:237360107(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs113896755
CDS Mutation c.6263C>T
AA Mutation p.Pro2088Leu(p.P2088L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237368970:237368970(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs146629310
CDS Mutation c.4493C>T
AA Mutation p.Pro1498Leu(p.P1498L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237334842:237334842(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs551422404
CDS Mutation c.9013G>A
AA Mutation p.Ala3005Thr(p.A3005T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237340542:237340542(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746208987
CDS Mutation c.8374G>A
AA Mutation p.Asp2792Asn(p.D2792N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237341061:237341061(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756654349
CDS Mutation c.7855G>A
AA Mutation p.Asp2619Asn(p.D2619N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237365999:237365999(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5537C>A
AA Mutation p.Ser1846Tyr(p.S1846Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237381020:237381020(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778400474
CDS Mutation c.1792G>A
AA Mutation p.Asp598Asn(p.D598N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237388107:237388107(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774576681
CDS Mutation c.787G>A
AA Mutation p.Asp263Asn(p.D263N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237336264:237336264(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8836G>T
AA Mutation p.Ala2946Ser(p.A2946S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237344448:237344448(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7570C>A
AA Mutation p.Pro2524Thr(p.P2524T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237394693:237394693(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs540844413
CDS Mutation c.603G>T
AA Mutation p.Glu201Asp(p.E201D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237395151:237395151(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.145A>G
AA Mutation p.Thr49Ala(p.T49A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237374901:237374901(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369810455
CDS Mutation c.3190C>T
AA Mutation p.Arg1064Trp(p.R1064W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000295550
Start 237344505:237344505(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs545819982
CDS Mutation c.7513G>A
AA Mutation p.Gly2505Arg(p.G2505R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237336355:237336355(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs112382351
CDS Mutation c.8745G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 26
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237340543:237340543(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770214487
CDS Mutation c.8373C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 27
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237366817:237366817(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775654736
CDS Mutation c.5370G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 28
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237394744:237394744(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs542204130
CDS Mutation c.552G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 29
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237336274:237336274(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751580746
CDS Mutation c.8826G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 30
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237336460:237336460(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746309230
CDS Mutation c.8640G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 31
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237387685:237387685(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373903065
CDS Mutation c.1209G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 32
Mutation Consequence synonymous_variant
Transcription ID ENST00000295550
Start 237374821:237374821(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs113781746
CDS Mutation c.3270C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 33
Mutation Consequence stop_gained
Transcription ID ENST00000295550
Start 237388029:237388029(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767654047
CDS Mutation c.865G>T
AA Mutation p.Glu289Ter(p.E289*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript