Mutation

Primary Site >> Stomach Cancer

Gene >> COL2A1

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000380518
Start	47999964:47999964(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs762911032
CDS Mutation	c.247G>A
AA Mutation	p.Gly83Arg(p.G83R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000380518
Start	47974144:47974144(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4262T>C
AA Mutation	p.Ile1421Thr(p.I1421T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000380518
Start	47974183:47974183(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4223A>G
AA Mutation	p.Lys1408Arg(p.K1408R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000380518
Start	47987079:47987079(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs775754967
CDS Mutation	c.1364C>T
AA Mutation	p.Thr455Met(p.T455M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000380518
Start	47987146:47987146(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1297T>G
AA Mutation	p.Phe433Val(p.F433V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000380518
Start	47973483:47973483(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs748077700
CDS Mutation	c.4388T>C
AA Mutation	p.Ile1463Thr(p.I1463T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000380518
Start	47985049:47985049(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1779G>T
AA Mutation	p.Gln593His(p.Q593H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000380518
Start	47987280:47987280(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1255A>G
AA Mutation	p.Lys419Glu(p.K419E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000380518
Start	47982922:47982922(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2119C>T
AA Mutation	p.Arg707Cys(p.R707C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000380518
Start	47974781:47974781(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3968G>T
AA Mutation	p.Cys1323Phe(p.C1323F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000380518
Start	47974090:47974090(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs121912886
CDS Mutation	c.4316C>T
AA Mutation	p.Thr1439Met(p.T1439M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000380518
Start	47978344:47978344(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2950G>T
AA Mutation	p.Gly984Cys(p.G984C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000380518
Start	47985757:47985757(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1651C>T
AA Mutation	p.Pro551Ser(p.P551S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000380518
Start	47976893:47976893(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3354A>G
Mutation Classification	Silent
Feature Type	Transcript

ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000380518
Start	47986366:47986366(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773764091
CDS Mutation	c.1497C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000380518
Start	47975336:47975336(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3867C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000380518
Start	47993467:47993467(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs138806868
CDS Mutation	c.960G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000380518
Start	47977344:47977344(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3249C>A
Mutation Classification	Silent
Feature Type	Transcript

ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000380518
Start	47975447:47975447(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs377079894
CDS Mutation	c.3756C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000380518
Start	47982523:47982523(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs757108462
CDS Mutation	c.2280C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000380518
Start	47975399:47975399(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3804C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	22
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000380518
Start	47997699:47997700(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.437dupC
AA Mutation	p.Gly147TrpfsTer42(p.G147Wfs*42)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	23
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000380518
Start	47998203:47998203(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.310-2A>G
Mutation Classification	Splice_Site
Feature Type	Transcript

ID	24
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000380518
Start	47998202:47998202(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.310-1G>T
Mutation Classification	Splice_Site
Feature Type	Transcript

ID	25
Mutation Consequence	inframe_deletion
Transcription ID	ENST00000380518
Start	47982151:47982153(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2309_2311delTTG
AA Mutation	p.Val770del(p.V770del)
Mutation Classification	In_Frame_Del
Feature Type	Transcript