Mutation

Primary Site >> Stomach Cancer

Gene >> COL5A2

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000374866
Start	189063251:189063251(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1790G>A
AA Mutation	p.Gly597Asp(p.G597D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000374866
Start	189053009:189053009(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2563G>A
AA Mutation	p.Gly855Arg(p.G855R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000374866
Start	189039341:189039341(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3856G>A
AA Mutation	p.Asp1286Asn(p.D1286N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000374866
Start	189035098:189035098(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs759098736
CDS Mutation	c.4171C>T
AA Mutation	p.Arg1391Cys(p.R1391C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000374866
Start	189035009:189035009(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4260A>C
AA Mutation	p.Lys1420Asn(p.K1420N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000374866
Start	189084013:189084013(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.823C>T
AA Mutation	p.Pro275Ser(p.P275S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000374866
Start	189058493:189058493(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2165C>A
AA Mutation	p.Pro722His(p.P722H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000374866
Start	189062881:189062881(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1961G>A
AA Mutation	p.Gly654Asp(p.G654D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000374866
Start	189063266:189063266(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs145169816
CDS Mutation	c.1775C>T
AA Mutation	p.Ala592Val(p.A592V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000374866
Start	189042748:189042748(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3497C>A
AA Mutation	p.Ala1166Asp(p.A1166D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000374866
Start	189043222:189043222(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3400G>A
AA Mutation	p.Gly1134Arg(p.G1134R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000374866
Start	189034933:189034933(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4336C>A
AA Mutation	p.Leu1446Ile(p.L1446I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000374866
Start	189064559:189064559(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs768322852
CDS Mutation	c.1714C>T
AA Mutation	p.Arg572Trp(p.R572W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000374866
Start	189039284:189039284(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs372897632
CDS Mutation	c.3913G>A
AA Mutation	p.Ala1305Thr(p.A1305T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000374866
Start	189039395:189039395(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3802G>A
AA Mutation	p.Val1268Ile(p.V1268I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000374866
Start	189034192:189034192(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4378A>G
AA Mutation	p.Thr1460Ala(p.T1460A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000374866
Start	189078565:189078565(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1010C>A
AA Mutation	p.Pro337Gln(p.P337Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000374866
Start	189052770:189052770(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2694T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000374866
Start	189068250:189068250(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1278T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000374866
Start	189039528:189039528(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs760353505
CDS Mutation	c.3669G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000374866
Start	189068792:189068792(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1251T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000374866
Start	189035003:189035003(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4266T>G
Mutation Classification	Silent
Feature Type	Transcript

ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000374866
Start	189068861:189068861(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs148229627
CDS Mutation	c.1182G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	24
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000374866
Start	189051366:189051366(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2885delC
AA Mutation	p.Pro962LeufsTer58(p.P962Lfs*58)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	25
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000374866
Start	189035049:189035049(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.4220delA
AA Mutation	p.Asn1407ThrfsTer3(p.N1407Tfs*3)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	26
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000374866
Start	189064598:189064598(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1675delG
AA Mutation	p.Asp559IlefsTer16(p.D559Ifs*16)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	27
Mutation Consequence	stop_gained
Transcription ID	ENST00000374866
Start	189068860:189068860(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1183C>T
AA Mutation	p.Arg395Ter(p.R395*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	28
Mutation Consequence	stop_gained
Transcription ID	ENST00000374866
Start	189052216:189052216(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2725G>T
AA Mutation	p.Gly909Ter(p.G909*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	29
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000374866
Start	189034133:189034134(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.4436_4437insA
AA Mutation	p.Val1480CysfsTer13(p.V1480Cfs*13)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	30
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000374866
Start	189088693:189088693(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.645+2T>C
Mutation Classification	Splice_Site
Feature Type	Transcript