Mutation

Primary Site >> Stomach Cancer

Gene >> COL5A1

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000371817
Start	134801996:134801996(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2995G>C
AA Mutation	p.Val999Leu(p.V999L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000371817
Start	134795308:134795308(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2792G>A
AA Mutation	p.Gly931Asp(p.G931D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000371817
Start	134820132:134820132(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4463T>G
AA Mutation	p.Ile1488Ser(p.I1488S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000371817
Start	134822122:134822122(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4580T>G
AA Mutation	p.Ile1527Ser(p.I1527S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000371817
Start	134835064:134835064(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5230T>C
AA Mutation	p.Tyr1744His(p.Y1744H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000371817
Start	134700062:134700062(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs561761305
CDS Mutation	c.431C>T
AA Mutation	p.Thr144Met(p.T144M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000371817
Start	134768462:134768462(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs138259992
CDS Mutation	c.2285C>T
AA Mutation	p.Pro762Leu(p.P762L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000371817
Start	134825875:134825875(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5038T>A
AA Mutation	p.Cys1680Ser(p.C1680S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000371817
Start	134752611:134752611(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1685G>A
AA Mutation	p.Gly562Asp(p.G562D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000371817
Start	134804996:134804996(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3136C>A
AA Mutation	p.Leu1046Ile(p.L1046I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000371817
Start	134738794:134738794(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs779897281
CDS Mutation	c.1480G>A
AA Mutation	p.Asp494Asn(p.D494N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000371817
Start	134824696:134824696(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs149212775
CDS Mutation	c.4795G>A
AA Mutation	p.Glu1599Lys(p.E1599K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000371817
Start	134815604:134815604(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4043G>C
AA Mutation	p.Gly1348Ala(p.G1348A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000371817
Start	134818744:134818744(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs758650140
CDS Mutation	c.4319G>A
AA Mutation	p.Arg1440Gln(p.R1440Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000371817
Start	134824630:134824630(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4729C>T
AA Mutation	p.Pro1577Ser(p.P1577S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000371817
Start	134835161:134835161(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5327A>G
AA Mutation	p.Tyr1776Cys(p.Y1776C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000371817
Start	134727280:134727280(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.669G>T
AA Mutation	p.Gln223His(p.Q223H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000371817
Start	134835097:134835097(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs776748227
CDS Mutation	c.5263G>A
AA Mutation	p.Ala1755Thr(p.A1755T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000371817
Start	134795266:134795266(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs375600865
CDS Mutation	c.2750C>T
AA Mutation	p.Pro917Leu(p.P917L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	20
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000371817
Start	134817078:134817078(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4175G>T
AA Mutation	p.Arg1392Met(p.R1392M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000371817
Start	134730452:134730452(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs768269251
CDS Mutation	c.1141G>A
AA Mutation	p.Ala381Thr(p.A381T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000371817
Start	134731614:134731614(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs770793962
CDS Mutation	c.1283C>T
AA Mutation	p.Ser428Leu(p.S428L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	23
Mutation Consequence	missense_variant
Transcription ID	ENST00000371817
Start	134727269:134727269(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.658G>A
AA Mutation	p.Asp220Asn(p.D220N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	24
Mutation Consequence	missense_variant
Transcription ID	ENST00000371817
Start	134753892:134753892(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1762G>A
AA Mutation	p.Val588Met(p.V588M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	25
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000371817
Start	134728805:134728805(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs770173348
CDS Mutation	c.922G>A
AA Mutation	p.Glu308Lys(p.E308K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	26
Mutation Consequence	missense_variant
Transcription ID	ENST00000371817
Start	134701257:134701257(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs142933609
CDS Mutation	c.578G>A
AA Mutation	p.Arg193His(p.R193H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	27
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000371817
Start	134815627:134815627(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs147868179
CDS Mutation	c.4066G>A
AA Mutation	p.Ala1356Thr(p.A1356T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	28
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000371817
Start	134730256:134730256(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs149123775
CDS Mutation	c.945G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	29
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000371817
Start	134818733:134818733(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200073020
CDS Mutation	c.4308G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	30
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000371817
Start	134796391:134796391(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs750716466
CDS Mutation	c.2817C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	31
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000371817
Start	134789202:134789202(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs139394549
CDS Mutation	c.2694C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	32
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000371817
Start	134802935:134802935(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3054G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	33
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000371817
Start	134842219:134842219(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5433C>A
Mutation Classification	Silent
Feature Type	Transcript

ID	34
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000371817
Start	134730355:134730355(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1044G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	35
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000371817
Start	134766465:134766465(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2100T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	36
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000371817
Start	134812655:134812655(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3795T>G
Mutation Classification	Silent
Feature Type	Transcript

ID	37
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000371817
Start	134700051:134700051(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs540553997
CDS Mutation	c.420C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	38
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000371817
Start	134691027:134691027(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.225C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	39
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000371817
Start	134784997:134784997(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs199630108
CDS Mutation	c.2493C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	40
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000371817
Start	134761966:134761966(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs370766020
CDS Mutation	c.1977C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	41
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000371817
Start	134730385:134730385(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs561440698
CDS Mutation	c.1074C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	42
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000371817
Start	134750807:134750807(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs529255491
CDS Mutation	c.1587C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	43
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000371817
Start	134730310:134730310(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs138702819
CDS Mutation	c.999C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	44
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000371817
Start	134815605:134815605(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.4050delC
AA Mutation	p.Gly1351GlufsTer137(p.G1351Efs*137)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	45
Mutation Consequence	frameshift_variant;splice_region_variant
Transcription ID	ENST00000371817
Start	134750544:134750544(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1502delC
AA Mutation	p.Pro501LeufsTer57(p.P501Lfs*57)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	46
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000371817
Start	134730388:134730388(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1081delG
AA Mutation	p.Glu361ArgfsTer197(p.E361Rfs*197)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	47
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000371817
Start	134796895:134796895(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.2897delC
AA Mutation	p.Pro966LeufsTer108(p.P966Lfs*108)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	48
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000371817
Start	134738791:134738791(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1480delG
AA Mutation	p.Asp494ThrfsTer64(p.D494Tfs*64)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	49
Mutation Consequence	stop_gained
Transcription ID	ENST00000371817
Start	134730407:134730407(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1096C>T
AA Mutation	p.Gln366Ter(p.Q366*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	50
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000371817
Start	134801982:134801983(version: GRCh38)
Mutation Type	INS
dbSNP_RS	rs764693725
CDS Mutation	c.2988dupC
AA Mutation	p.Gly997ArgfsTer17(p.G997Rfs*17)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	51
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000371817
Start	134785081:134785082(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.2582dupC
AA Mutation	p.Gly862TrpfsTer59(p.G862Wfs*59)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	52
Mutation Consequence	frameshift_variant;splice_region_variant
Transcription ID	ENST00000371817
Start	134750543:134750544(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.1502dupC
AA Mutation	p.Gly502TrpfsTer114(p.G502Wfs*114)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	53
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000371817
Start	134798407:134798407(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2899-1G>A
Mutation Classification	Splice_Site
Feature Type	Transcript

ID	54
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000371817
Start	134784988:134784988(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2488delG
AA Mutation	p.Glu830ArgfsTer244(p.X830_splice)
Mutation Classification	Splice_Site
Feature Type	Transcript

ID	55
Mutation Consequence	inframe_deletion
Transcription ID	ENST00000371817
Start	134765708:134765725(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2064_2081delGCCCCCAGGTCCTCCCGG
AA Mutation	p.Pro692_Gly697del(p.P692_G697del)
Mutation Classification	In_Frame_Del
Feature Type	Transcript