Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PMS2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000265849
Start 5978600:5978600(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2271A>C
AA Mutation p.Glu757Asp(p.E757D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000265849
Start 6003995:6003995(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.227A>T
AA Mutation p.Glu76Val(p.E76V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000265849
Start 5978605:5978605(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762206330
CDS Mutation c.2266G>A
AA Mutation p.Asp756Asn(p.D756N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000265849
Start 5989910:5989910(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1034T>C
AA Mutation p.Leu345Pro(p.L345P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000265849
Start 5987522:5987522(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs138387687
CDS Mutation c.1243G>A
AA Mutation p.Val415Met(p.V415M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000265849
Start 5978623:5978623(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2248G>T
AA Mutation p.Gly750Cys(p.G750C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000265849
Start 5987342:5987342(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1423G>A
AA Mutation p.Val475Met(p.V475M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence synonymous_variant
Transcription ID ENST00000265849
Start 5977687:5977687(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs139031103
CDS Mutation c.2346C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000265849
Start 5989951:5989951(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs186577215
CDS Mutation c.993C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000265849
Start 5999132:5999132(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs188813057
CDS Mutation c.681C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 11
Mutation Consequence synonymous_variant
Transcription ID ENST00000265849
Start 5977699:5977699(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768674294
CDS Mutation c.2334C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 12
Mutation Consequence synonymous_variant
Transcription ID ENST00000265849
Start 5999153:5999153(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745997910
CDS Mutation c.660C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 13
Mutation Consequence synonymous_variant
Transcription ID ENST00000265849
Start 6005938:6005938(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs34839707
CDS Mutation c.117A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 14
Mutation Consequence synonymous_variant
Transcription ID ENST00000265849
Start 5987523:5987523(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs142839559
CDS Mutation c.1242C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 15
Mutation Consequence synonymous_variant
Transcription ID ENST00000265849
Start 5982871:5982871(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199943748
CDS Mutation c.2127C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 16
Mutation Consequence stop_gained
Transcription ID ENST00000265849
Start 5987504:5987504(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587778617
CDS Mutation c.1261C>T
AA Mutation p.Arg421Ter(p.R421*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence stop_gained
Transcription ID ENST00000265849
Start 5999182:5999182(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760228510
CDS Mutation c.631C>T
AA Mutation p.Arg211Ter(p.R211*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence splice_donor_variant
Transcription ID ENST00000265849
Start 5982823:5982823(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs267608172
CDS Mutation c.2174+1G>A
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> PMS2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000265849
Start 6002575:6002575(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.415C>A
AA Mutation p.His139Asn(p.H139N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000265849
Start 5995616:5995616(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.821C>T
AA Mutation p.Ser274Leu(p.S274L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence synonymous_variant
Transcription ID ENST00000265849
Start 5986985:5986985(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1780T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 4
Mutation Consequence synonymous_variant
Transcription ID ENST00000265849
Start 5982850:5982850(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748404138
CDS Mutation c.2148C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 5
Mutation Consequence stop_gained
Transcription ID ENST00000265849
Start 5987534:5987534(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1231G>T
AA Mutation p.Glu411Ter(p.E411*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence stop_gained
Transcription ID ENST00000265849
Start 5986925:5986925(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs63750490
CDS Mutation c.1840A>T
AA Mutation p.Lys614Ter(p.K614*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript