Mutation

Primary Site >> Stomach Cancer

Gene >> COL8A1

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000261037
Start	99794668:99794668(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.767C>A
AA Mutation	p.Pro256His(p.P256H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000261037
Start	99795921:99795921(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766014652
CDS Mutation	c.2020G>A
AA Mutation	p.Val674Met(p.V674M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000261037
Start	99795129:99795129(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs199818609
CDS Mutation	c.1228C>T
AA Mutation	p.Pro410Ser(p.P410S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000261037
Start	99794544:99794544(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.643T>G
AA Mutation	p.Leu215Val(p.L215V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000261037
Start	99794611:99794611(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.710G>T
AA Mutation	p.Arg237Leu(p.R237L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000261037
Start	99796087:99796087(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2186G>A
AA Mutation	p.Gly729Glu(p.G729E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000261037
Start	99794430:99794430(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs757127478
CDS Mutation	c.529G>A
AA Mutation	p.Ala177Thr(p.A177T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000261037
Start	99794610:99794610(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755896312
CDS Mutation	c.709C>T
AA Mutation	p.Arg237Trp(p.R237W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000261037
Start	99796038:99796038(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2137C>T
AA Mutation	p.Arg713Trp(p.R713W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000261037
Start	99795072:99795072(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs267599510
CDS Mutation	c.1171G>A
AA Mutation	p.Glu391Lys(p.E391K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000261037
Start	99795926:99795926(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2025G>T
AA Mutation	p.Trp675Cys(p.W675C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000261037
Start	99795845:99795845(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1944G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	13
Mutation Consequence	stop_retained_variant
Transcription ID	ENST00000261037
Start	99796135:99796135(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2234A>G
Mutation Classification	Silent
Feature Type	Transcript

ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000261037
Start	99795095:99795095(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1194A>G
Mutation Classification	Silent
Feature Type	Transcript

ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000261037
Start	99795812:99795812(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1911A>G
Mutation Classification	Silent
Feature Type	Transcript

ID	16
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000261037
Start	99795690:99795690(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1795delC
AA Mutation	p.His599MetfsTer24(p.H599Mfs*24)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	17
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000261037
Start	99795911:99795911(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.2015delG
AA Mutation	p.Gly672AlafsTer14(p.G672Afs*14)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	18
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000261037
Start	99794986:99794986(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1088delG
AA Mutation	p.Gly363AlafsTer18(p.G363Afs*18)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	19
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000261037
Start	99795978:99795978(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2081delA
AA Mutation	p.Lys694ArgfsTer66(p.K694Rfs*66)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	20
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000261037
Start	99796023:99796024(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.2122_2123insCGTTA
AA Mutation	p.Leu708ProfsTer54(p.L708Pfs*54)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	21
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000261037
Start	99794752:99794753(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.856dupC
AA Mutation	p.Leu286ProfsTer76(p.L286Pfs*76)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript