Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PNPLA8

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000257694
Start 108514932:108514932(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs780391824
CDS Mutation c.560G>A
AA Mutation p.Arg187His(p.R187H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000257694
Start 108515459:108515459(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.33T>G
AA Mutation p.Ile11Met(p.I11M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000257694
Start 108514677:108514677(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.815C>A
AA Mutation p.Pro272His(p.P272H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000257694
Start 108472416:108472416(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2334C>A
AA Mutation p.Phe778Leu(p.F778L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000257694
Start 108496689:108496689(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770948284
CDS Mutation c.1520G>A
AA Mutation p.Arg507Gln(p.R507Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000257694
Start 108479249:108479249(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778206359
CDS Mutation c.2009C>T
AA Mutation p.Thr670Met(p.T670M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000257694
Start 108515153:108515153(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.339G>T
AA Mutation p.Lys113Asn(p.K113N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000257694
Start 108502591:108502591(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1258C>T
AA Mutation p.Leu420Phe(p.L420F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000257694
Start 108515126:108515126(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.366G>T
AA Mutation p.Met122Ile(p.M122I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000257694
Start 108515418:108515418(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.74G>T
AA Mutation p.Arg25Ile(p.R25I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000257694
Start 108472544:108472544(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2206A>G
AA Mutation p.Lys736Glu(p.K736E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000257694
Start 108515439:108515439(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.53G>T
AA Mutation p.Arg18Ile(p.R18I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000257694
Start 108472540:108472540(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2210A>G
AA Mutation p.Tyr737Cys(p.Y737C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000257694
Start 108472510:108472510(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2240A>C
AA Mutation p.Lys747Thr(p.K747T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence synonymous_variant
Transcription ID ENST00000257694
Start 108514628:108514628(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.864T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 16
Mutation Consequence frameshift_variant
Transcription ID ENST00000257694
Start 108472481:108472481(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2269delA
AA Mutation p.Thr757GlnfsTer10(p.T757Qfs*10)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 17
Mutation Consequence frameshift_variant
Transcription ID ENST00000257694
Start 108515144:108515144(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.348delT
AA Mutation p.Phe116LeufsTer7(p.F116Lfs*7)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 18
Mutation Consequence frameshift_variant
Transcription ID ENST00000257694
Start 108496689:108496690(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1519_1520insA
AA Mutation p.Arg507GlnfsTer27(p.R507Qfs*27)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 19
Mutation Consequence frameshift_variant
Transcription ID ENST00000257694
Start 108496690:108496691(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1518_1519insACTACCTATATAAT
AA Mutation p.Arg507ThrfsTer8(p.R507Tfs*8)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 20
Mutation Consequence splice_donor_variant
Transcription ID ENST00000257694
Start 108497482:108497482(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1453+1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 21
Mutation Consequence inframe_deletion
Transcription ID ENST00000257694
Start 108514915:108514917(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.575_577delACA
AA Mutation p.Tyr192_Thr193delinsSer(p.Y192_T193delinsS)
Mutation Classification In_Frame_Del
Feature Type Transcript

Rectum Cancer: Gene >> PNPLA8

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000257694
Start 108479351:108479351(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771622986
CDS Mutation c.1907C>T
AA Mutation p.Ser636Leu(p.S636L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000257694
Start 108502516:108502516(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1333C>A
AA Mutation p.Leu445Ile(p.L445I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000257694
Start 108479216:108479216(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2042C>A
AA Mutation p.Ser681Tyr(p.S681Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000257694
Start 108515220:108515220(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.272C>T
AA Mutation p.Pro91Leu(p.P91L)
Mutation Classification Missense_Mutation
Feature Type Transcript