Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PTCHD3

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000438700
Start 27414015:27414015(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.236C>T
AA Mutation p.Ser79Leu(p.S79L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000438700
Start 27413454:27413454(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.797A>G
AA Mutation p.Asn266Ser(p.N266S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000438700
Start 27413799:27413799(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.452C>T
AA Mutation p.Ala151Val(p.A151V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000438700
Start 27413622:27413622(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.629C>T
AA Mutation p.Ser210Leu(p.S210L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000438700
Start 27403289:27403289(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1280T>G
AA Mutation p.Val427Gly(p.V427G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000438700
Start 27413419:27413419(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.832C>A
AA Mutation p.Leu278Ile(p.L278I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000438700
Start 27398328:27398328(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2270C>G
AA Mutation p.Ser757Cys(p.S757C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000438700
Start 27413284:27413284(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746518651
CDS Mutation c.967C>T
AA Mutation p.Arg323Trp(p.R323W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000438700
Start 27413961:27413961(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.290C>T
AA Mutation p.Pro97Leu(p.P97L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000438700
Start 27398425:27398425(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2173T>G
AA Mutation p.Phe725Val(p.F725V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000438700
Start 27398616:27398616(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1982T>G
AA Mutation p.Val661Gly(p.V661G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000438700
Start 27413421:27413421(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs147881350
CDS Mutation c.830C>T
AA Mutation p.Thr277Met(p.T277M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence synonymous_variant
Transcription ID ENST00000438700
Start 27398537:27398537(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2061C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 14
Mutation Consequence synonymous_variant
Transcription ID ENST00000438700
Start 27414098:27414098(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.153G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 15
Mutation Consequence synonymous_variant
Transcription ID ENST00000438700
Start 27413789:27413789(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs763146945
CDS Mutation c.462C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 16
Mutation Consequence synonymous_variant
Transcription ID ENST00000438700
Start 27413846:27413846(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.405C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 17
Mutation Consequence synonymous_variant
Transcription ID ENST00000438700
Start 27413441:27413441(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376677291
CDS Mutation c.810C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 18
Mutation Consequence synonymous_variant
Transcription ID ENST00000438700
Start 27414017:27414017(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752338563
CDS Mutation c.234G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 19
Mutation Consequence frameshift_variant
Transcription ID ENST00000438700
Start 27414022:27414022(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs570928509
CDS Mutation c.229delC
AA Mutation p.Arg77GlyfsTer43(p.R77Gfs*43)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 20
Mutation Consequence frameshift_variant
Transcription ID ENST00000438700
Start 27398834:27398834(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1764delT
AA Mutation p.Phe588LeufsTer18(p.F588Lfs*18)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 21
Mutation Consequence frameshift_variant
Transcription ID ENST00000438700
Start 27398540:27398541(version: GRCh38)
Mutation Type INS
dbSNP_RS rs750923568
CDS Mutation c.2057dupA
AA Mutation p.Asn686LysfsTer6(p.N686Kfs*6)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> PTCHD3

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000438700
Start 27399141:27399141(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1457C>T
AA Mutation p.Ala486Val(p.A486V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000438700
Start 27398644:27398644(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1954G>A
AA Mutation p.Asp652Asn(p.D652N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence synonymous_variant
Transcription ID ENST00000438700
Start 27414098:27414098(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.153G>A
Mutation Classification Silent
Feature Type Transcript