Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PTCH1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95461981:95461981(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2578G>T
AA Mutation	p.Asp860Tyr(p.D860Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95446982:95446982(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs587778630
CDS Mutation	c.4274C>T
AA Mutation	p.Ser1425Leu(p.S1425L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95468894:95468894(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2107G>A
AA Mutation	p.Glu703Lys(p.E703K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95468986:95468986(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs372219420
CDS Mutation	c.2015C>T
AA Mutation	p.Thr672Met(p.T672M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95468912:95468912(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2089C>A
AA Mutation	p.Leu697Ile(p.L697I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95447112:95447112(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs377484697
CDS Mutation	c.4144C>T
AA Mutation	p.His1382Tyr(p.H1382Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95447319:95447319(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs369772095
CDS Mutation	c.3937C>T
AA Mutation	p.Pro1313Ser(p.P1313S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95478081:95478081(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1321C>T
AA Mutation	p.Arg441Cys(p.R441C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95453541:95453541(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3386G>A
AA Mutation	p.Gly1129Asp(p.G1129D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95456341:95456341(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs587778629
CDS Mutation	c.3241G>A
AA Mutation	p.Val1081Met(p.V1081M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95447141:95447141(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs765348942
CDS Mutation	c.4115C>T
AA Mutation	p.Thr1372Met(p.T1372M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95449851:95449851(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3539C>A
AA Mutation	p.Pro1180Gln(p.P1180Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95468959:95468959(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2042C>T
AA Mutation	p.Pro681Leu(p.P681L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95467250:95467250(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2426A>C
AA Mutation	p.Lys809Thr(p.K809T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95453610:95453610(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs769691754
CDS Mutation	c.3317C>T
AA Mutation	p.Thr1106Met(p.T1106M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95476050:95476050(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs377566861
CDS Mutation	c.1712G>A
AA Mutation	p.Arg571Gln(p.R571Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95449232:95449232(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200029534
CDS Mutation	c.3641C>T
AA Mutation	p.Thr1214Met(p.T1214M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95456290:95456290(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs748726158
CDS Mutation	c.3292G>A
AA Mutation	p.Val1098Ile(p.V1098I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95479046:95479046(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1169A>G
AA Mutation	p.Asp390Gly(p.D390G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000331920
Start	95456399:95456399(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3183G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000331920
Start	95469824:95469824(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1836C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000331920
Start	95468985:95468985(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs776286129
CDS Mutation	c.2016G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000331920
Start	95449309:95449309(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3564C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000331920
Start	95447374:95447374(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3882T>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000331920
Start	95478169:95478169(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs752518133
CDS Mutation	c.1233C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000331920
Start	95449874:95449874(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs775292833
CDS Mutation	c.3516C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000331920
Start	95467216:95467216(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766227557
CDS Mutation	c.2460C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000331920
Start	95453492:95453492(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200435277
CDS Mutation	c.3435C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000331920
Start	95469075:95469075(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1926A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000331920
Start	95469039:95469039(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201544613
CDS Mutation	c.1962G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	31
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

Mutation ID	32
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

Mutation ID	33
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

Mutation ID	34
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000331920
Start	95469884:95469884(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1776delT
AA Mutation	p.Pro593LeufsTer30(p.P593Lfs*30)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	35
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

Mutation ID	36
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000331920
Start	95506510:95506511(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.290dupA
AA Mutation	p.Asn97LysfsTer43(p.N97Kfs*43)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> PTCH1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95449133:95449133(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3740C>T
AA Mutation	p.Ala1247Val(p.A1247V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000331920
Start	95456276:95456276(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3306G>T
AA Mutation	p.Leu1102Phe(p.L1102F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000331920
Start	95476051:95476051(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1711C>T
AA Mutation	p.Arg571Trp(p.R571W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000331920
Start	95468934:95468934(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2067C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000331920
Start	95482008:95482008(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.687T>C
Mutation Classification	Silent
Feature Type	Transcript