Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PRPF40A

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000410080
Start 152676765:152676765(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.671G>A
AA Mutation p.Cys224Tyr(p.C224Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000410080
Start 152672978:152672978(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1205G>C
AA Mutation p.Ser402Thr(p.S402T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000410080
Start 152672615:152672615(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1214C>T
AA Mutation p.Ala405Val(p.A405V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000410080
Start 152657917:152657917(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765336931
CDS Mutation c.2672C>T
AA Mutation p.Ser891Leu(p.S891L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000410080
Start 152659312:152659312(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2367G>T
AA Mutation p.Lys789Asn(p.K789N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000410080
Start 152663701:152663701(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2042G>T
AA Mutation p.Arg681Ile(p.R681I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000410080
Start 152662634:152662634(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2291G>A
AA Mutation p.Arg764Gln(p.R764Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence synonymous_variant
Transcription ID ENST00000410080
Start 152673031:152673031(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1152G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 9
Mutation Consequence frameshift_variant
Transcription ID ENST00000410080
Start 152672597:152672597(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1232delA
AA Mutation p.Lys411SerfsTer40(p.K411Sfs*40)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 10
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000410080
Start 152659005:152659008(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2508_2511delGAGA
AA Mutation p.Arg837ValfsTer73(p.R837Vfs*73)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 11
Mutation Consequence frameshift_variant
Transcription ID ENST00000410080
Start 152672596:152672597(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1232dupA
AA Mutation p.Gln412AlafsTer4(p.Q412Afs*4)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> PRPF40A

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000410080
Start 152658992:152658992(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2524T>C
AA Mutation p.Ser842Pro(p.S842P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000410080
Start 152671320:152671320(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1432C>A
AA Mutation p.Leu478Ile(p.L478I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence stop_gained
Transcription ID ENST00000410080
Start 152658011:152658011(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2578G>T
AA Mutation p.Glu860Ter(p.E860*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript