Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> RBL1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000373664
Start	37067112:37067112(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs368117514
CDS Mutation	c.566G>A
AA Mutation	p.Arg189Gln(p.R189Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000373664
Start	37044145:37044145(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs543244583
CDS Mutation	c.1711G>A
AA Mutation	p.Asp571Asn(p.D571N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000373664
Start	37035464:37035464(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1948T>G
AA Mutation	p.Ser650Ala(p.S650A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000373664
Start	37062123:37062123(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1044G>T
AA Mutation	p.Gln348His(p.Q348H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000373664
Start	37089058:37089058(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200802138
CDS Mutation	c.221C>T
AA Mutation	p.Thr74Met(p.T74M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000373664
Start	37047166:37047166(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1492C>A
AA Mutation	p.His498Asn(p.H498N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000373664
Start	37044146:37044146(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs751661963
CDS Mutation	c.1710C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000373664
Start	37003771:37003771(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs533632665
CDS Mutation	c.2967G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000373664
Start	37062117:37062117(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1050T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000373664
Start	37068090:37068090(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.387T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000373664
Start	37022802:37022802(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2407T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000373664
Start	37032821:37032821(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2226T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000373664
Start	37068171:37068171(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.306delT
AA Mutation	p.Phe102LeufsTer4(p.F102Lfs*4)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	stop_gained
Transcription ID	ENST00000373664
Start	37055579:37055579(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs772430380
CDS Mutation	c.1441C>T
AA Mutation	p.Arg481Ter(p.R481*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	stop_gained
Transcription ID	ENST00000373664
Start	37018333:37018333(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2668G>T
AA Mutation	p.Glu890Ter(p.E890*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	stop_gained
Transcription ID	ENST00000373664
Start	37068128:37068128(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.349G>T
AA Mutation	p.Glu117Ter(p.E117*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000373664
Start	37062235:37062236(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.931_932insCC
AA Mutation	p.Leu311ProfsTer2(p.L311Pfs*2)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000373664
Start	37062237:37062238(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.929_930insCAGTT
AA Mutation	p.Leu311SerfsTer3(p.L311Sfs*3)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> RBL1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000373664
Start	37055578:37055578(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1442G>A
AA Mutation	p.Arg481Gln(p.R481Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000373664
Start	37018362:37018362(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2639G>T
AA Mutation	p.Arg880Ile(p.R880I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000373664
Start	37022759:37022759(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs750256205
CDS Mutation	c.2450G>A
AA Mutation	p.Arg817Gln(p.R817Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000373664
Start	37040158:37040158(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1898G>A
AA Mutation	p.Arg633Gln(p.R633Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	stop_gained
Transcription ID	ENST00000373664
Start	37040186:37040186(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1870G>T
AA Mutation	p.Glu624Ter(p.E624*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript