Mutation

Primary Site >> Stomach Cancer

Gene >> PKD1

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2106839:2106839(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs761828545
CDS Mutation	c.7175G>A
AA Mutation	p.Arg2392His(p.R2392H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2100210:2100210(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs202227418
CDS Mutation	c.9668C>T
AA Mutation	p.Thr3223Met(p.T3223M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2113280:2113280(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs748744124
CDS Mutation	c.2866G>A
AA Mutation	p.Val956Met(p.V956M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2109841:2109841(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5326C>A
AA Mutation	p.Leu1776Met(p.L1776M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2112822:2112822(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs376890677
CDS Mutation	c.3127G>A
AA Mutation	p.Val1043Met(p.V1043M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2111488:2111488(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3679G>A
AA Mutation	p.Ala1227Thr(p.A1227T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2114259:2114259(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2764C>A
AA Mutation	p.Leu922Ile(p.L922I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2110935:2110935(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs371937874
CDS Mutation	c.4232G>A
AA Mutation	p.Arg1411His(p.R1411H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2106157:2106157(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs772999733
CDS Mutation	c.7637A>G
AA Mutation	p.His2546Arg(p.H2546R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2111260:2111260(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs761686050
CDS Mutation	c.3907G>A
AA Mutation	p.Ala1303Thr(p.A1303T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2090903:2090903(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.11984T>A
AA Mutation	p.Leu3995His(p.L3995H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2108370:2108370(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs760351888
CDS Mutation	c.6797G>A
AA Mutation	p.Arg2266His(p.R2266H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2109868:2109868(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5299A>G
AA Mutation	p.Thr1767Ala(p.T1767A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2090353:2090353(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12376G>A
AA Mutation	p.Asp4126Asn(p.D4126N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2090479:2090479(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12250C>T
AA Mutation	p.Pro4084Ser(p.P4084S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2097933:2097933(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs762866943
CDS Mutation	c.10102G>A
AA Mutation	p.Asp3368Asn(p.D3368N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2110410:2110410(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4757A>T
AA Mutation	p.Asp1586Val(p.D1586V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2092540:2092540(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.11209G>T
AA Mutation	p.Gly3737Trp(p.G3737W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2103316:2103316(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs774306300
CDS Mutation	c.8741G>A
AA Mutation	p.Ser2914Asn(p.S2914N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2090437:2090437(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12292G>A
AA Mutation	p.Ala4098Thr(p.A4098T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2109145:2109145(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6022T>G
AA Mutation	p.Phe2008Val(p.F2008V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2114520:2114520(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs750594767
CDS Mutation	c.2503C>T
AA Mutation	p.Arg835Cys(p.R835C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	23
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2089857:2089857(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12782G>A
AA Mutation	p.Gly4261Asp(p.G4261D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	24
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2111746:2111746(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs753385964
CDS Mutation	c.3421G>A
AA Mutation	p.Gly1141Ser(p.G1141S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	25
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2110687:2110687(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs369254259
CDS Mutation	c.4480C>T
AA Mutation	p.Arg1494Cys(p.R1494C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	26
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2106665:2106665(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs538769374
CDS Mutation	c.7222C>T
AA Mutation	p.Arg2408Cys(p.R2408C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	27
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2105992:2105992(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7736G>A
AA Mutation	p.Gly2579Asp(p.G2579D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	28
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2114301:2114301(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs531711109
CDS Mutation	c.2722G>A
AA Mutation	p.Val908Met(p.V908M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	29
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2102219:2102219(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9239C>T
AA Mutation	p.Thr3080Ile(p.T3080I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	30
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2090101:2090101(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.12538G>A
AA Mutation	p.Ala4180Thr(p.A4180T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	31
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2103698:2103698(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs371765908
CDS Mutation	c.8359C>T
AA Mutation	p.Arg2787Cys(p.R2787C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	32
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2118070:2118070(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.922G>A
AA Mutation	p.Gly308Arg(p.G308R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	33
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2102613:2102613(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8969G>A
AA Mutation	p.Ser2990Asn(p.S2990N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	34
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2112936:2112936(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs370648270
CDS Mutation	c.3013G>A
AA Mutation	p.Val1005Ile(p.V1005I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	35
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2109426:2109426(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5741G>A
AA Mutation	p.Gly1914Asp(p.G1914D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	36
Mutation Consequence	missense_variant
Transcription ID	ENST00000262304
Start	2113180:2113180(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2966C>T
AA Mutation	p.Ala989Val(p.A989V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	37
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000262304
Start	2110622:2110622(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755083696
CDS Mutation	c.4545C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	38
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000262304
Start	2097443:2097443(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs758428518
CDS Mutation	c.10281G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	39
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000262304
Start	2090033:2090033(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12606C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	40
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000262304
Start	2114287:2114287(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2736G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	41
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000262304
Start	2114380:2114380(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs765764257
CDS Mutation	c.2643C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	42
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000262304
Start	2100218:2100218(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs762713883
CDS Mutation	c.9660G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	43
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000262304
Start	2114359:2114359(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2664G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	44
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000262304
Start	2100540:2100540(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9424C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	45
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000262304
Start	2111267:2111267(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3900A>G
Mutation Classification	Silent
Feature Type	Transcript

ID	46
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000262304
Start	2105907:2105907(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs78726010
CDS Mutation	c.7821C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	47
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000262304
Start	2103810:2103810(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs143265128
CDS Mutation	c.8247G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	48
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000262304
Start	2089988:2089988(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs141412586
CDS Mutation	c.12651C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	49
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000262304
Start	2109343:2109343(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.5824delC
AA Mutation	p.Arg1942AlafsTer7(p.R1942Afs*7)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	50
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000262304
Start	2093070:2093070(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.11040delT
AA Mutation	p.Leu3681CysfsTer3(p.L3681Cfs*3)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	51
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000262304
Start	2117013:2117013(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1426delG
AA Mutation	p.Val476TrpfsTer82(p.V476Wfs*82)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	52
Mutation Consequence	stop_gained
Transcription ID	ENST00000262304
Start	2102891:2102891(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8871C>A
AA Mutation	p.Cys2957Ter(p.C2957*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	53
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000262304
Start	2094015:2094015(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10619-2A>G
Mutation Classification	Splice_Site
Feature Type	Transcript