Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> CHIT1

Mutation ID 1
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000367229
Start 203225671:203225671(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.255G>T
AA Mutation p.Lys85Asn(p.K85N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000367229
Start 203225816:203225816(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.110G>T
AA Mutation p.Gly37Val(p.G37V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000367229
Start 203219266:203219266(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746089762
CDS Mutation c.979C>T
AA Mutation p.Arg327Trp(p.R327W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000367229
Start 203219265:203219265(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369594904
CDS Mutation c.980G>A
AA Mutation p.Arg327Gln(p.R327Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000367229
Start 203225099:203225099(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.263C>A
AA Mutation p.Pro88His(p.P88H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000367229
Start 203225757:203225757(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200630872
CDS Mutation c.169G>A
AA Mutation p.Ala57Thr(p.A57T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000367229
Start 203223257:203223257(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.483C>A
AA Mutation p.Asp161Glu(p.D161E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000367229
Start 203219726:203219726(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.853G>A
AA Mutation p.Ala285Thr(p.A285T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000367229
Start 203225808:203225808(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768872163
CDS Mutation c.118C>T
AA Mutation p.Arg40Cys(p.R40C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000367229
Start 203216925:203216925(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1365G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 11
Mutation Consequence frameshift_variant
Transcription ID ENST00000367229
Start 203216965:203216965(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1325delC
AA Mutation p.Ala442GlyfsTer36(p.A442Gfs*36)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 12
Mutation Consequence splice_donor_variant
Transcription ID ENST00000367229
Start 203225047:203225047(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201510066
CDS Mutation c.314+1G>T
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> CHIT1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000367229
Start 203223515:203223515(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs142999142
CDS Mutation c.460C>T
AA Mutation p.Arg154Cys(p.R154C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence synonymous_variant
Transcription ID ENST00000367229
Start 203223155:203223155(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs114168492
CDS Mutation c.585C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 3
Mutation Consequence frameshift_variant
Transcription ID ENST00000367229
Start 203217020:203217021(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.1269dupA
AA Mutation p.Ala424SerfsTer2(p.A424Sfs*2)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript