Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> RB1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000267163
Start 48362848:48362848(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772678500
CDS Mutation c.752G>A
AA Mutation p.Arg251Gln(p.R251Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000267163
Start 48459717:48459717(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1990A>G
AA Mutation p.Thr664Ala(p.T664A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000267163
Start 48476759:48476759(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2579A>G
AA Mutation p.Lys860Arg(p.K860R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000267163
Start 48463731:48463731(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2107A>T
AA Mutation p.Ile703Phe(p.I703F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000267163
Start 48345089:48345089(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.390A>C
AA Mutation p.Lys130Asn(p.K130N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000267163
Start 48347833:48347833(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.509A>C
AA Mutation p.Glu170Ala(p.E170A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000267163
Start 48379612:48379612(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759079385
CDS Mutation c.1351C>T
AA Mutation p.Arg451Cys(p.R451C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000267163
Start 48367518:48367518(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776534331
CDS Mutation c.964G>A
AA Mutation p.Glu322Lys(p.E322K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000267163
Start 48362881:48362881(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752342013
CDS Mutation c.785G>A
AA Mutation p.Arg262Gln(p.R262Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000267163
Start 48362882:48362882(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.786G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 11
Mutation Consequence synonymous_variant
Transcription ID ENST00000267163
Start 48463793:48463793(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2169C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 12
Mutation Consequence frameshift_variant
Transcription ID ENST00000267163
Start 48381334:48381335(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1587_1588delCA
AA Mutation p.Tyr529Ter(p.Y529*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 13
Mutation Consequence frameshift_variant
Transcription ID ENST00000267163
Start 48456343:48456343(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1959delA
AA Mutation p.Val654CysfsTer4(p.V654Cfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 14
Mutation Consequence frameshift_variant
Transcription ID ENST00000267163
Start 48381329:48381329(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1585delT
AA Mutation p.Tyr529ThrfsTer3(p.Y529Tfs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 15
Mutation Consequence frameshift_variant
Transcription ID ENST00000267163
Start 48381428:48381432(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1681_1685delCTTGC
AA Mutation p.Leu561MetfsTer9(p.L561Mfs*9)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 16
Mutation Consequence stop_gained
Transcription ID ENST00000267163
Start 48342707:48342707(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.373G>T
AA Mutation p.Glu125Ter(p.E125*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence stop_gained
Transcription ID ENST00000267163
Start 48362934:48362934(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.838G>T
AA Mutation p.Glu280Ter(p.E280*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence splice_donor_variant
Transcription ID ENST00000267163
Start 48347864:48347864(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.539+1G>A
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> RB1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000267163
Start 48459810:48459810(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2083A>G
AA Mutation p.Met695Val(p.M695V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000267163
Start 48379612:48379612(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759079385
CDS Mutation c.1351C>T
AA Mutation p.Arg451Cys(p.R451C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000267163
Start 48367518:48367518(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776534331
CDS Mutation c.964G>A
AA Mutation p.Glu322Lys(p.E322K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence synonymous_variant
Transcription ID ENST00000267163
Start 48342706:48342706(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.372A>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 5
Mutation Consequence synonymous_variant
Transcription ID ENST00000267163
Start 48456261:48456261(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1872T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 6
Mutation Consequence stop_gained
Transcription ID ENST00000267163
Start 48362934:48362934(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.838G>T
AA Mutation p.Glu280Ter(p.E280*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript