Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> SMAD4

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51067035:51067035(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1156G>A
AA Mutation p.Gly386Ser(p.G386S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51078417:51078417(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1609G>C
AA Mutation p.Asp537His(p.D537H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51065561:51065561(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1094G>A
AA Mutation p.Gly365Asp(p.G365D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51065531:51065531(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1064A>G
AA Mutation p.Asp355Gly(p.D355G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51078419:51078419(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1611C>G
AA Mutation p.Asp537Glu(p.D537E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51048836:51048836(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.400G>A
AA Mutation p.Glu134Lys(p.E134K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51076650:51076650(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1321C>T
AA Mutation p.Arg441Cys(p.R441C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51078409:51078409(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1601A>C
AA Mutation p.Gln534Pro(p.Q534P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51065455:51065455(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.988G>C
AA Mutation p.Glu330Gln(p.E330Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000342988
Start 51076639:51076639(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1310T>A
AA Mutation p.Val437Asp(p.V437D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51065549:51065549(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377767347
CDS Mutation c.1082G>A
AA Mutation p.Arg361His(p.R361H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51065548:51065548(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs80338963
CDS Mutation c.1081C>T
AA Mutation p.Arg361Cys(p.R361C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51078415:51078415(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1607T>G
AA Mutation p.Leu536Arg(p.L536R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51065485:51065485(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1018A>G
AA Mutation p.Lys340Glu(p.K340E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51065447:51065447(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.980C>T
AA Mutation p.Ala327Val(p.A327V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51078403:51078403(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1595C>A
AA Mutation p.Ala532Asp(p.A532D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000342988
Start 51067187:51067187(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1308G>T
AA Mutation p.Lys436Asn(p.K436N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51048780:51048780(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.344G>A
AA Mutation p.Cys115Tyr(p.C115Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51048785:51048785(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.349T>C
AA Mutation p.Tyr117His(p.Y117H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51078336:51078336(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1528G>A
AA Mutation p.Gly510Arg(p.G510R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51067135:51067135(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1256G>T
AA Mutation p.Gly419Val(p.G419V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51048843:51048843(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.407T>C
AA Mutation p.Val136Ala(p.V136A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51065521:51065521(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121912581
CDS Mutation c.1054G>A
AA Mutation p.Gly352Arg(p.G352R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51065519:51065519(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1052A>G
AA Mutation p.Asp351Gly(p.D351G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51065576:51065576(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1109T>G
AA Mutation p.Val370Gly(p.V370G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51065560:51065560(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1093G>C
AA Mutation p.Gly365Arg(p.G365R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51067135:51067135(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1256G>C
AA Mutation p.Gly419Ala(p.G419A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence synonymous_variant
Transcription ID ENST00000342988
Start 51065526:51065526(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1059C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 29
Mutation Consequence frameshift_variant
Transcription ID ENST00000342988
Start 51078400:51078400(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1594delG
AA Mutation p.Ala532ProfsTer5(p.A532Pfs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 30
Mutation Consequence frameshift_variant
Transcription ID ENST00000342988
Start 51078424:51078430(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1619_1625delTTCATAC
AA Mutation p.Leu540ProfsTer10(p.L540Pfs*10)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 31
Mutation Consequence frameshift_variant
Transcription ID ENST00000342988
Start 51058144:51058144(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.692delG
AA Mutation p.Gly231AlafsTer10(p.G231Afs*10)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 32
Mutation Consequence stop_gained
Transcription ID ENST00000342988
Start 51048701:51048701(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.265G>T
AA Mutation p.Gly89Ter(p.G89*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence stop_gained;splice_region_variant
Transcription ID ENST00000342988
Start 51059867:51059867(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.906G>A
AA Mutation p.Trp302Ter(p.W302*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence stop_gained
Transcription ID ENST00000342988
Start 51054859:51054859(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.533C>A
AA Mutation p.Ser178Ter(p.S178*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence stop_gained
Transcription ID ENST00000342988
Start 51048782:51048782(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.346C>T
AA Mutation p.Gln116Ter(p.Q116*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence frameshift_variant
Transcription ID ENST00000342988
Start 51047193:51047194(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.153dupA
AA Mutation p.Asp52ArgfsTer2(p.D52Rfs*2)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 37
Mutation Consequence frameshift_variant
Transcription ID ENST00000342988
Start 51058143:51058144(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.692dupG
AA Mutation p.Ser232GlnfsTer3(p.S232Qfs*3)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 38
Mutation Consequence splice_donor_variant
Transcription ID ENST00000342988
Start 51076777:51076777(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1447+1G>C
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 39
Mutation Consequence inframe_deletion
Transcription ID ENST00000342988
Start 51047152:51047181(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.106_135delGCAAAAAGAGCAATTGAAAGTTTGGTAAAG
AA Mutation p.Ala36_Lys45del(p.A36_K45del)
Mutation Classification In_Frame_Del
Feature Type Transcript

Rectum Cancer: Gene >> SMAD4

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51048710:51048710(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.274C>T
AA Mutation p.His92Tyr(p.H92Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51076663:51076663(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1334G>A
AA Mutation p.Arg445Gln(p.R445Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51065549:51065549(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377767347
CDS Mutation c.1082G>A
AA Mutation p.Arg361His(p.R361H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51067036:51067036(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121912580
CDS Mutation c.1157G>A
AA Mutation p.Gly386Asp(p.G386D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51078418:51078418(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1610A>T
AA Mutation p.Asp537Val(p.D537V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51078418:51078418(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1610A>G
AA Mutation p.Asp537Gly(p.D537G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51078417:51078417(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1609G>T
AA Mutation p.Asp537Tyr(p.D537Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51078417:51078417(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1609G>C
AA Mutation p.Asp537His(p.D537H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51067162:51067162(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1283A>T
AA Mutation p.Lys428Met(p.K428M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51078292:51078292(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1484T>G
AA Mutation p.Leu495Arg(p.L495R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51048746:51048746(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.310C>T
AA Mutation p.Leu104Phe(p.L104F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51065548:51065548(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs80338963
CDS Mutation c.1081C>T
AA Mutation p.Arg361Cys(p.R361C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51047215:51047215(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.169T>G
AA Mutation p.Leu57Val(p.L57V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51078419:51078419(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1611C>G
AA Mutation p.Asp537Glu(p.D537E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51047186:51047186(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.140T>A
AA Mutation p.Leu47Gln(p.L47Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51067103:51067103(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1224T>A
AA Mutation p.Phe408Leu(p.F408L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51065534:51065534(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1067C>T
AA Mutation p.Pro356Leu(p.P356L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence frameshift_variant
Transcription ID ENST00000342988
Start 51065441:51065442(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.974_975delCC
AA Mutation p.Ser325TyrfsTer5(p.S325Yfs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 19
Mutation Consequence inframe_deletion
Transcription ID ENST00000342988
Start 51065519:51065524(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1053_1058delTGGATA
AA Mutation p.Gly352_Tyr353del(p.G352_Y353del)
Mutation Classification In_Frame_Del
Feature Type Transcript
Mutation ID 20
Mutation Consequence inframe_deletion
Transcription ID ENST00000342988
Start 51065553:51065555(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1088_1090delGTT
AA Mutation p.Cys363del(p.C363del)
Mutation Classification In_Frame_Del
Feature Type Transcript