Mutation

Primary Site >> Stomach Cancer

Gene >> PCSK5

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000545128
Start	75986166:75986166(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs767412291
CDS Mutation	c.332G>A
AA Mutation	p.Arg111Gln(p.R111Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000545128
Start	76323276:76323276(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4246A>G
AA Mutation	p.Lys1416Glu(p.K1416E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000545128
Start	76188652:76188652(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2357A>G
AA Mutation	p.His786Arg(p.H786R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000545128
Start	76296812:76296812(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs777222949
CDS Mutation	c.3470G>A
AA Mutation	p.Arg1157His(p.R1157H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000545128
Start	75891312:75891312(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.131C>A
AA Mutation	p.Ala44Asp(p.A44D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000545128
Start	76179680:76179680(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1985A>G
AA Mutation	p.Lys662Arg(p.K662R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000545128
Start	76095905:76095905(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.910G>A
AA Mutation	p.Gly304Ser(p.G304S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000545128
Start	76338231:76338231(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4669T>C
AA Mutation	p.Tyr1557His(p.Y1557H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000545128
Start	75986143:75986143(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.309C>G
AA Mutation	p.Ile103Met(p.I103M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000545128
Start	76157143:76157143(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1411A>G
AA Mutation	p.Ser471Gly(p.S471G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000545128
Start	76296728:76296728(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3386A>C
AA Mutation	p.Glu1129Ala(p.E1129A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000545128
Start	76189662:76189662(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2542C>T
AA Mutation	p.Pro848Ser(p.P848S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000545128
Start	76159008:76159008(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1456C>T
AA Mutation	p.Arg486Cys(p.R486C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000545128
Start	76071797:76071797(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.793G>A
AA Mutation	p.Val265Met(p.V265M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000545128
Start	76023808:76023808(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.482C>T
AA Mutation	p.Thr161Met(p.T161M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000545128
Start	76332496:76332496(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4553C>T
AA Mutation	p.Ala1518Val(p.A1518V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000545128
Start	76358912:76358912(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5573A>G
AA Mutation	p.Tyr1858Cys(p.Y1858C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000545128
Start	76338345:76338345(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773065504
CDS Mutation	c.4783C>T
AA Mutation	p.Arg1595Cys(p.R1595C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000545128
Start	76358808:76358808(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5469C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000545128
Start	76071826:76071826(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200775960
CDS Mutation	c.822G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000545128
Start	76159073:76159073(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs759164453
CDS Mutation	c.1521C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000545128
Start	76332455:76332455(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4512C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000545128
Start	76321524:76321524(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3906C>A
Mutation Classification	Silent
Feature Type	Transcript

ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000545128
Start	76358610:76358610(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs747403628
CDS Mutation	c.5271C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000545128
Start	76071754:76071754(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.750G>T
Mutation Classification	Silent
Feature Type	Transcript

ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000545128
Start	76354197:76354197(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5151C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	27
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000545128
Start	76354177:76354177(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.5136delC
AA Mutation	p.Ser1713ValfsTer39(p.S1713Vfs*39)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	28
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000545128
Start	75891189:75891189(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.12delG
AA Mutation	p.Ser5AlafsTer58(p.S5Afs*58)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	29
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000545128
Start	76189661:76189661(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2543delC
AA Mutation	p.Pro848GlnfsTer15(p.P848Qfs*15)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	30
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000545128
Start	76181416:76181416(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2027delC
AA Mutation	p.Pro676LeufsTer38(p.P676Lfs*38)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	31
Mutation Consequence	stop_gained;frameshift_variant
Transcription ID	ENST00000545128
Start	76071768:76071769(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.764_765insTAACTGATTTTGCAGGGAAG
AA Mutation	p.Lys256AsnfsTer2(p.K256Nfs*2)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	32
Mutation Consequence	stop_gained
Transcription ID	ENST00000545128
Start	76338405:76338405(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4843C>T
AA Mutation	p.Gln1615Ter(p.Q1615*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	33
Mutation Consequence	stop_gained
Transcription ID	ENST00000545128
Start	76071731:76071731(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.727C>T
AA Mutation	p.Arg243Ter(p.R243*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	34
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000545128
Start	76189703:76189704(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.2585dupT
AA Mutation	p.Leu862PhefsTer19(p.L862Ffs*19)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	35
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000545128
Start	76096103:76096103(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1107+1G>A
Mutation Classification	Splice_Site
Feature Type	Transcript