Mutation

Primary Site >> Stomach Cancer

Gene >> COL4A3

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000396578
Start	227310846:227310846(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4826G>A
AA Mutation	p.Arg1609Gln(p.R1609Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000396578
Start	227253326:227253326(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs771403339
CDS Mutation	c.676A>G
AA Mutation	p.Lys226Glu(p.K226E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000396578
Start	227267067:227267067(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200510532
CDS Mutation	c.1483C>T
AA Mutation	p.His495Tyr(p.H495Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000396578
Start	227309241:227309241(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs574102153
CDS Mutation	c.4678G>A
AA Mutation	p.Val1560Ile(p.V1560I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000396578
Start	227269969:227269969(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1564C>T
AA Mutation	p.Pro522Ser(p.P522S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000396578
Start	227276455:227276455(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1998T>A
AA Mutation	p.His666Gln(p.H666Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000396578
Start	227290762:227290762(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3086G>A
AA Mutation	p.Arg1029Lys(p.R1029K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000396578
Start	227307770:227307770(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4313C>A
AA Mutation	p.Pro1438His(p.P1438H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000396578
Start	227270770:227270770(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1576G>A
AA Mutation	p.Gly526Ser(p.G526S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000396578
Start	227259866:227259866(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs748026747
CDS Mutation	c.1103G>A
AA Mutation	p.Arg368His(p.R368H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000396578
Start	227254125:227254125(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.779A>G
AA Mutation	p.Glu260Gly(p.E260G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000396578
Start	227290076:227290076(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3058A>G
AA Mutation	p.Met1020Val(p.M1020V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000396578
Start	227256383:227256383(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.974A>G
AA Mutation	p.Glu325Gly(p.E325G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000396578
Start	227276473:227276473(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2016A>G
Mutation Classification	Silent
Feature Type	Transcript

ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000396578
Start	227289202:227289202(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2934A>G
Mutation Classification	Silent
Feature Type	Transcript

ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000396578
Start	227297729:227297729(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3621G>T
Mutation Classification	Silent
Feature Type	Transcript

ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000396578
Start	227263925:227263925(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs775957977
CDS Mutation	c.1296G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000396578
Start	227293304:227293304(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3324T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	19
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000396578
Start	227305051:227305051(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.4224delA
AA Mutation	p.Gly1409AlafsTer20(p.G1409Afs*20)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	20
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000396578
Start	227273094:227273094(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1908delC
AA Mutation	p.Gly637AspfsTer110(p.G637Dfs*110)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	21
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000396578
Start	227261093:227261093(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1131delC
AA Mutation	p.Gly378GlufsTer22(p.G378Efs*22)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	22
Mutation Consequence	stop_gained
Transcription ID	ENST00000396578
Start	227263845:227263845(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1216C>T
AA Mutation	p.Arg406Ter(p.R406*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript