Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> CDKL1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000395834
Start	50332363:50332363(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.868A>C
AA Mutation	p.Asn290His(p.N290H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000395834
Start	50345018:50345018(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.334C>G
AA Mutation	p.Leu112Val(p.L112V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000395834
Start	50341150:50341150(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs532944255
CDS Mutation	c.540C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000395834
Start	50342181:50342181(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.408G>A
Mutation Classification	Silent
Feature Type	Transcript

Rectum Cancer: Gene >> CDKL1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000395834
Start	50341070:50341070(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs758484311
CDS Mutation	c.620C>T
AA Mutation	p.Ser207Leu(p.S207L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000395834
Start	50332293:50332293(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs751714888
CDS Mutation	c.938G>A
AA Mutation	p.Arg313Gln(p.R313Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000395834
Start	50395721:50395721(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.151C>T
AA Mutation	p.Arg51Trp(p.R51W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	stop_gained
Transcription ID	ENST00000395834
Start	50332273:50332273(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.958G>T
AA Mutation	p.Glu320Ter(p.E320*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript