Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> RECQL4

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000617875
Start 144512898:144512898(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761231404
CDS Mutation c.2704C>T
AA Mutation p.Arg902Trp(p.R902W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000617875
Start 144515995:144515995(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs398124115
CDS Mutation c.1124G>A
AA Mutation p.Arg375His(p.R375H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000617875
Start 144516508:144516508(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.611C>G
AA Mutation p.Ala204Gly(p.A204G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000617875
Start 144513684:144513684(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2087G>A
AA Mutation p.Arg696His(p.R696H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000617875
Start 144516123:144516123(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.996G>T
AA Mutation p.Lys332Asn(p.K332N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000617875
Start 144516458:144516458(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.661A>G
AA Mutation p.Ile221Val(p.I221V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000617875
Start 144513594:144513594(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2177C>T
AA Mutation p.Ala726Val(p.A726V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000617875
Start 144515009:144515009(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762113412
CDS Mutation c.1547C>T
AA Mutation p.Ala516Val(p.A516V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000617875
Start 144516025:144516025(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs549497811
CDS Mutation c.1094G>A
AA Mutation p.Arg365Gln(p.R365Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000617875
Start 144516324:144516324(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs564678543
CDS Mutation c.795C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 11
Mutation Consequence synonymous_variant
Transcription ID ENST00000617875
Start 144514508:144514508(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775478350
CDS Mutation c.1638G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 12
Mutation Consequence synonymous_variant
Transcription ID ENST00000617875
Start 144515014:144515014(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368572714
CDS Mutation c.1542C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 13
Mutation Consequence frameshift_variant
Transcription ID ENST00000617875
Start 144517167:144517167(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.237delG
AA Mutation p.His81IlefsTer2(p.H81Ifs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 14
Mutation Consequence stop_gained
Transcription ID ENST00000617875
Start 144513610:144513610(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746691436
CDS Mutation c.2161C>T
AA Mutation p.Arg721Ter(p.R721*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence frameshift_variant
Transcription ID ENST00000617875
Start 144512965:144512966(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.2636dupC
AA Mutation p.Gln880SerfsTer4(p.Q880Sfs*4)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> RECQL4

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000617875
Start 144511436:144511436(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs41555416
CDS Mutation c.3622C>T
AA Mutation p.Arg1208Cys(p.R1208C)
Mutation Classification Missense_Mutation
Feature Type Transcript