Primary Site >> Stomach Cancer

Gene >> SMAD4

ID 1
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
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51067096:51067096(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1217C>T
AA Mutation p.Ala406Val(p.A406V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
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
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51078329:51078329(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1521A>T
AA Mutation p.Lys507Asn(p.K507N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51065522:51065522(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1055G>C
AA Mutation p.Gly352Ala(p.G352A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51065555:51065555(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1088G>A
AA Mutation p.Cys363Tyr(p.C363Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51067027:51067027(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1148T>G
AA Mutation p.Ile383Arg(p.I383R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51078304:51078304(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1496G>A
AA Mutation p.Cys499Tyr(p.C499Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51065530:51065530(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1063G>T
AA Mutation p.Asp355Tyr(p.D355Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51065518:51065518(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1051G>T
AA Mutation p.Asp351Tyr(p.D351Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51065570:51065570(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1103C>G
AA Mutation p.Ser368Cys(p.S368C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51067023:51067023(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1144C>G
AA Mutation p.His382Asp(p.H382D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51047224:51047224(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.178G>C
AA Mutation p.Ala60Pro(p.A60P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51065549:51065549(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1082G>C
AA Mutation p.Arg361Pro(p.R361P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 15
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
ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51076738:51076738(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1409C>A
AA Mutation p.Pro470His(p.P470H)
Mutation Classification Missense_Mutation
Feature Type Transcript
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
ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51078320:51078320(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1512T>G
AA Mutation p.Ser504Arg(p.S504R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51048832:51048832(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.396C>A
AA Mutation p.His132Gln(p.H132Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51065455:51065455(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377767342
CDS Mutation c.988G>A
AA Mutation p.Glu330Lys(p.E330K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51078378:51078378(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1570T>A
AA Mutation p.Trp524Arg(p.W524R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51078333:51078333(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1525T>C
AA Mutation p.Trp509Arg(p.W509R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000342988
Start 51067095:51067095(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs794726995
CDS Mutation c.1216G>A
AA Mutation p.Ala406Thr(p.A406T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 24
Mutation Consequence synonymous_variant
Transcription ID ENST00000342988
Start 51076721:51076721(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs140487104
CDS Mutation c.1392C>T
Mutation Classification Silent
Feature Type Transcript
ID 25
Mutation Consequence synonymous_variant
Transcription ID ENST00000342988
Start 51078377:51078377(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1569C>T
Mutation Classification Silent
Feature Type Transcript
ID 26
Mutation Consequence frameshift_variant
Transcription ID ENST00000342988
Start 51067069:51067100(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1194_1225delGGTCAGGTGCCTTAGTGACCACGCGGTCTTTG
AA Mutation p.Trp398CysfsTer20(p.W398Cfs*20)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 27
Mutation Consequence frameshift_variant
Transcription ID ENST00000342988
Start 51078423:51078439(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1616_1632delTACTTCATACCATGCCG
AA Mutation p.Val539AspfsTer32(p.V539Dfs*32)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 28
Mutation Consequence frameshift_variant
Transcription ID ENST00000342988
Start 51048763:51048763(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.330delA
AA Mutation p.Lys110AsnfsTer12(p.K110Nfs*12)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 29
Mutation Consequence stop_gained
Transcription ID ENST00000342988
Start 51048839:51048839(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377767326
CDS Mutation c.403C>T
AA Mutation p.Arg135Ter(p.R135*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 30
Mutation Consequence frameshift_variant
Transcription ID ENST00000342988
Start 51067111:51067112(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1234dupT
AA Mutation p.Tyr412LeufsTer17(p.Y412Lfs*17)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 31
Mutation Consequence frameshift_variant
Transcription ID ENST00000342988
Start 51067035:51067036(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1160_1161dupTG
AA Mutation p.Gln388CysfsTer28(p.Q388Cfs*28)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 32
Mutation Consequence inframe_deletion
Transcription ID ENST00000342988
Start 51065548:51065559(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1081_1092delCGCTTTTGTTTG
AA Mutation p.Arg361_Leu364del(p.R361_L364del)
Mutation Classification In_Frame_Del
Feature Type Transcript
ID 33
Mutation Consequence inframe_deletion
Transcription ID ENST00000342988
Start 51065550:51065579(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1084_1113delTTTTGTTTGGGTCAACTCTCCAATGTCCAC
AA Mutation p.Phe362_His371del(p.F362_H371del)
Mutation Classification In_Frame_Del
Feature Type Transcript
ID 34
Mutation Consequence inframe_deletion
Transcription ID ENST00000342988
Start 51065547:51065561(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1082_1096delGCTTTTGTTTGGGTC
AA Mutation p.Arg361_Gly365del(p.R361_G365del)
Mutation Classification In_Frame_Del
Feature Type Transcript
ID 35
Mutation Consequence inframe_insertion;splice_region_variant
Transcription ID ENST00000342988
Start 51049324:51049325(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.454_454+1insCTCCATCAA
AA Mutation p.Ser154_Ser155insThrProSer(p.S154_S155insTPS)
Mutation Classification In_Frame_Ins
Feature Type Transcript