Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PKD2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000237596
Start 88038489:88038489(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753359659
CDS Mutation c.1082G>A
AA Mutation p.Arg361Gln(p.R361Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000237596
Start 88068058:88068058(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2519A>G
AA Mutation p.Gln840Arg(p.Q840R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000237596
Start 88046866:88046866(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1544T>C
AA Mutation p.Val515Ala(p.V515A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000237596
Start 88075606:88075606(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756158263
CDS Mutation c.2819G>T
AA Mutation p.Arg940Leu(p.R940L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000237596
Start 88065419:88065419(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs529945469
CDS Mutation c.2164G>A
AA Mutation p.Val722Met(p.V722M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000237596
Start 88068000:88068000(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2461G>A
AA Mutation p.Gly821Arg(p.G821R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000237596
Start 88057988:88057988(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1904C>T
AA Mutation p.Thr635Ile(p.T635I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000237596
Start 88074823:88074823(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755031837
CDS Mutation c.2534G>A
AA Mutation p.Arg845Gln(p.R845Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000237596
Start 88038318:88038318(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.911A>G
AA Mutation p.Asp304Gly(p.D304G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000237596
Start 88038497:88038497(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1090A>G
AA Mutation p.Thr364Ala(p.T364A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000237596
Start 88038372:88038372(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs145877597
CDS Mutation c.965G>A
AA Mutation p.Arg322Gln(p.R322Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000237596
Start 88046808:88046808(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1486C>T
AA Mutation p.Arg496Cys(p.R496C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000237596
Start 88074876:88074876(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766821096
CDS Mutation c.2587G>A
AA Mutation p.Val863Met(p.V863M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000237596
Start 88056213:88056213(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1844C>T
AA Mutation p.Ala615Val(p.A615V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence synonymous_variant
Transcription ID ENST00000237596
Start 88052119:88052119(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1677C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 16
Mutation Consequence synonymous_variant
Transcription ID ENST00000237596
Start 88074923:88074923(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2634G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 17
Mutation Consequence synonymous_variant
Transcription ID ENST00000237596
Start 88038277:88038277(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.870G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 18
Mutation Consequence frameshift_variant
Transcription ID ENST00000237596
Start 88052141:88052141(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1704delT
AA Mutation p.Phe568LeufsTer16(p.F568Lfs*16)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 19
Mutation Consequence stop_gained
Transcription ID ENST00000237596
Start 88067946:88067946(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778235410
CDS Mutation c.2407C>T
AA Mutation p.Arg803Ter(p.R803*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript

Rectum Cancer: Gene >> PKD2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000237596
Start 88068043:88068043(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2504C>A
AA Mutation p.Ser835Tyr(p.S835Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000237596
Start 88043254:88043254(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1116A>C
AA Mutation p.Lys372Asn(p.K372N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence synonymous_variant
Transcription ID ENST00000237596
Start 88075487:88075487(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2700C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 4
Mutation Consequence stop_gained
Transcription ID ENST00000237596
Start 88074822:88074822(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369678636
CDS Mutation c.2533C>T
AA Mutation p.Arg845Ter(p.R845*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript