Mutation

Primary Site >> Stomach Cancer

Gene >> COL1A1

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000225964
Start	50190021:50190021(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs369455732
CDS Mutation	c.2539G>A
AA Mutation	p.Ala847Thr(p.A847T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000225964
Start	50189453:50189453(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs181824088
CDS Mutation	c.2753G>A
AA Mutation	p.Arg918His(p.R918H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000225964
Start	50197044:50197044(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.770G>C
AA Mutation	p.Gly257Ala(p.G257A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000225964
Start	50185812:50185812(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs770826227
CDS Mutation	c.4214G>A
AA Mutation	p.Arg1405His(p.R1405H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000225964
Start	50186002:50186002(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4024G>T
AA Mutation	p.Gly1342Cys(p.G1342C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000225964
Start	50198165:50198165(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs533106127
CDS Mutation	c.584C>T
AA Mutation	p.Ala195Val(p.A195V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000225964
Start	50194019:50194019(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs1800211
CDS Mutation	c.1691G>A
AA Mutation	p.Arg564His(p.R564H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000225964
Start	50186684:50186684(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs775462973
CDS Mutation	c.3770G>A
AA Mutation	p.Arg1257His(p.R1257H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000225964
Start	50188110:50188110(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs372029024
CDS Mutation	c.3247G>A
AA Mutation	p.Ala1083Thr(p.A1083T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000225964
Start	50196199:50196199(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.958G>T
AA Mutation	p.Gly320Cys(p.G320C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000225964
Start	50195614:50195614(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs758897245
CDS Mutation	c.1108C>T
AA Mutation	p.Arg370Cys(p.R370C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000225964
Start	50197211:50197211(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.719G>A
AA Mutation	p.Arg240His(p.R240H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000225964
Start	50197964:50197964(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201136122
CDS Mutation	c.627C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000225964
Start	50185829:50185829(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs757759451
CDS Mutation	c.4197C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000225964
Start	50187915:50187915(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3330C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	16
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

ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000225964
Start	50190079:50190079(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs779002822
CDS Mutation	c.2481C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000225964
Start	50187900:50187900(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3345C>A
Mutation Classification	Silent
Feature Type	Transcript

ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000225964
Start	50186875:50186875(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3579C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	20
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000225964
Start	50195595:50195595(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs72645369
CDS Mutation	c.1127delC
AA Mutation	p.Pro376LeufsTer165(p.P376Lfs*165)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	21
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

ID	22
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000225964
Start	50192801:50192801(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1871delC
AA Mutation	p.Pro624LeufsTer142(p.P624Lfs*142)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	23
Mutation Consequence	frameshift_variant;splice_region_variant
Transcription ID	ENST00000225964
Start	50187982:50187982(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.3263delG
AA Mutation	p.Gly1088AspfsTer20(p.G1088Dfs*20)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript