Mutation

Primary Site >> Stomach Cancer

Gene >> PTCH1

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95453599:95453599(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3328G>A
AA Mutation	p.Asp1110Asn(p.D1110N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95468908:95468908(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2093G>T
AA Mutation	p.Ser698Ile(p.S698I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95476074:95476074(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1688C>T
AA Mutation	p.Ala563Val(p.A563V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95478128:95478128(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs768956985
CDS Mutation	c.1274C>T
AA Mutation	p.Thr425Met(p.T425M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95447103:95447103(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4153C>T
AA Mutation	p.Pro1385Ser(p.P1385S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95458081:95458081(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs760902564
CDS Mutation	c.3100G>A
AA Mutation	p.Val1034Met(p.V1034M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95467418:95467418(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2258T>C
AA Mutation	p.Val753Ala(p.V753A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95447232:95447232(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs781539921
CDS Mutation	c.4024C>T
AA Mutation	p.Arg1342Cys(p.R1342C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95459735:95459735(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2752G>A
AA Mutation	p.Ala918Thr(p.A918T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95468924:95468924(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2077A>G
AA Mutation	p.Thr693Ala(p.T693A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95469892:95469892(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1768C>T
AA Mutation	p.Leu590Phe(p.L590F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95480491:95480491(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.844C>G
AA Mutation	p.Leu282Val(p.L282V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95480492:95480492(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.843G>A
AA Mutation	p.Met281Ile(p.M281I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95479040:95479040(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1175C>T
AA Mutation	p.Ala392Val(p.A392V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95469013:95469013(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1988A>G
AA Mutation	p.Gln663Arg(p.Q663R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95468770:95468770(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2231T>C
AA Mutation	p.Leu744Pro(p.L744P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95482013:95482013(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.682A>C
AA Mutation	p.Ile228Leu(p.I228L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95479013:95479013(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1202G>T
AA Mutation	p.Arg401Met(p.R401M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95478147:95478147(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs202136156
CDS Mutation	c.1255G>A
AA Mutation	p.Val419Met(p.V419M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95468978:95468978(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2023T>C
AA Mutation	p.Tyr675His(p.Y675H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95476820:95476820(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1541A>G
AA Mutation	p.Asp514Gly(p.D514G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95468998:95468998(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2003A>G
AA Mutation	p.Tyr668Cys(p.Y668C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	23
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95482187:95482187(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.601C>T
AA Mutation	p.His201Tyr(p.H201Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000331920
Start	95467237:95467237(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs151266988
CDS Mutation	c.2439G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000331920
Start	95469003:95469003(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs369710438
CDS Mutation	c.1998G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000331920
Start	95479066:95479066(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1149A>G
Mutation Classification	Silent
Feature Type	Transcript

ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000331920
Start	95447140:95447140(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs776937004
CDS Mutation	c.4116G>T
Mutation Classification	Silent
Feature Type	Transcript

ID	28
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000331920
Start	95447020:95447020(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4236C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	29
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000331920
Start	95453515:95453515(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3412C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	30
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000331920
Start	95506564:95506564(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs547602299
CDS Mutation	c.237G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	31
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000331920
Start	95506498:95506498(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.303C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	32
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000331920
Start	95453525:95453525(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3402G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	33
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000331920
Start	95476801:95476801(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1560C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	34
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000331920
Start	95458139:95458139(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs757821035
CDS Mutation	c.3042C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	35
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000331920
Start	95447069:95447069(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.4187delG
AA Mutation	p.Gly1396AspfsTer56(p.G1396Dfs*56)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	36
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000331920
Start	95506511:95506511(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.290delA
AA Mutation	p.Asn97ThrfsTer20(p.N97Tfs*20)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	37
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000331920
Start	95449267:95449267(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.3606delC
AA Mutation	p.Ser1203AlafsTer52(p.S1203Afs*52)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	38
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000331920
Start	95447335:95447335(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.3921delC
AA Mutation	p.Arg1308GlufsTer64(p.R1308Efs*64)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	39
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000331920
Start	95447311:95447311(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.3945delC
AA Mutation	p.Tyr1316ThrfsTer56(p.Y1316Tfs*56)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	40
Mutation Consequence	stop_gained
Transcription ID	ENST00000331920
Start	95469856:95469856(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1804C>T
AA Mutation	p.Arg602Ter(p.R602*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	41
Mutation Consequence	stop_gained
Transcription ID	ENST00000331920
Start	95479017:95479017(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1198C>T
AA Mutation	p.Gln400Ter(p.Q400*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript