Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PCSK1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000311106
Start 96412463:96412463(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.737C>T
AA Mutation p.Thr246Met(p.T246M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000311106
Start 96410959:96410959(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs148617898
CDS Mutation c.910G>A
AA Mutation p.Val304Ile(p.V304I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000311106
Start 96423363:96423363(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758046584
CDS Mutation c.493G>A
AA Mutation p.Val165Ile(p.V165I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000311106
Start 96421895:96421895(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.605C>T
AA Mutation p.Pro202Leu(p.P202L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000311106
Start 96400169:96400169(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1214G>A
AA Mutation p.Arg405Gln(p.R405Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000311106
Start 96410954:96410954(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.915G>T
AA Mutation p.Trp305Cys(p.W305C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000311106
Start 96432933:96432933(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.110C>T
AA Mutation p.Ala37Val(p.A37V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000311106
Start 96394934:96394934(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368969662
CDS Mutation c.1814G>A
AA Mutation p.Arg605His(p.R605H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000311106
Start 96410946:96410946(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.923G>A
AA Mutation p.Gly308Glu(p.G308E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000311106
Start 96412472:96412472(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.728G>A
AA Mutation p.Gly243Asp(p.G243D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000311106
Start 96393120:96393120(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774886644
CDS Mutation c.2143G>T
AA Mutation p.Asp715Tyr(p.D715Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000311106
Start 96400157:96400157(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1226A>G
AA Mutation p.His409Arg(p.H409R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000311106
Start 96408263:96408263(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1156C>T
AA Mutation p.Pro386Ser(p.P386S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence synonymous_variant
Transcription ID ENST00000311106
Start 96393313:96393313(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs539013443
CDS Mutation c.1950C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 15
Mutation Consequence synonymous_variant
Transcription ID ENST00000311106
Start 96400003:96400003(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1380C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 16
Mutation Consequence frameshift_variant
Transcription ID ENST00000311106
Start 96393078:96393078(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2185delT
AA Mutation p.Tyr729IlefsTer21(p.Y729Ifs*21)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 17
Mutation Consequence stop_gained
Transcription ID ENST00000311106
Start 96416099:96416099(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.643G>T
AA Mutation p.Glu215Ter(p.E215*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000311106
Start 96412492:96412492(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.710-2A>G
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> PCSK1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000311106
Start 96425890:96425890(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.326A>C
AA Mutation p.Lys109Thr(p.K109T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000311106
Start 96393312:96393312(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772483031
CDS Mutation c.1951G>A
AA Mutation p.Val651Ile(p.V651I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000311106
Start 96397427:96397427(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1631C>T
AA Mutation p.Ser544Phe(p.S544F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000311106
Start 96400099:96400099(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759552679
CDS Mutation c.1284G>T
AA Mutation p.Lys428Asn(p.K428N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000311106
Start 96393303:96393303(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200614230
CDS Mutation c.1960C>T
AA Mutation p.Arg654Trp(p.R654W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence synonymous_variant
Transcription ID ENST00000311106
Start 96432992:96432992(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774807858
CDS Mutation c.51C>T
Mutation Classification Silent
Feature Type Transcript