Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> SMG1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000446231
Start	18830018:18830018(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs368592756
CDS Mutation	c.9041G>A
AA Mutation	p.Arg3014Gln(p.R3014Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000446231
Start	18836047:18836047(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7943C>T
AA Mutation	p.Ala2648Val(p.A2648V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000446231
Start	18842429:18842429(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6245C>T
AA Mutation	p.Ala2082Val(p.A2082V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000446231
Start	18829582:18829582(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9307G>A
AA Mutation	p.Gly3103Arg(p.G3103R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000446231
Start	18839735:18839735(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6908C>A
AA Mutation	p.Ser2303Tyr(p.S2303Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000446231
Start	18815181:18815181(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs754039668
CDS Mutation	c.10615G>A
AA Mutation	p.Ala3539Thr(p.A3539T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000446231
Start	18849359:18849359(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5481C>A
AA Mutation	p.Phe1827Leu(p.F1827L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000446231
Start	18819533:18819533(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9863T>A
AA Mutation	p.Leu3288His(p.L3288H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000446231
Start	18896817:18896817(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs762928481
CDS Mutation	c.232G>A
AA Mutation	p.Ala78Thr(p.A78T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000446231
Start	18854676:18854676(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs753628889
CDS Mutation	c.4463C>A
AA Mutation	p.Thr1488Asn(p.T1488N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000446231
Start	18876393:18876393(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1621G>T
AA Mutation	p.Val541Phe(p.V541F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000446231
Start	18850443:18850443(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5077A>T
AA Mutation	p.Thr1693Ser(p.T1693S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000446231
Start	18859670:18859670(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766665415
CDS Mutation	c.3839C>T
AA Mutation	p.Pro1280Leu(p.P1280L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000446231
Start	18847606:18847606(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5843T>G
AA Mutation	p.Val1948Gly(p.V1948G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000446231
Start	18838553:18838553(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7082A>C
AA Mutation	p.Lys2361Thr(p.K2361T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000446231
Start	18859587:18859587(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3922G>A
AA Mutation	p.Glu1308Lys(p.E1308K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000446231
Start	18838565:18838565(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7070T>C
AA Mutation	p.Val2357Ala(p.V2357A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000446231
Start	18816402:18816402(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10202G>A
AA Mutation	p.Cys3401Tyr(p.C3401Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000446231
Start	18830108:18830108(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8951A>G
AA Mutation	p.Lys2984Arg(p.K2984R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000446231
Start	18854695:18854695(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs749957363
CDS Mutation	c.4444G>A
AA Mutation	p.Glu1482Lys(p.E1482K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000446231
Start	18870661:18870661(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755332588
CDS Mutation	c.2441G>A
AA Mutation	p.Arg814Gln(p.R814Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000446231
Start	18834374:18834374(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8395C>T
AA Mutation	p.Arg2799Trp(p.R2799W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000446231
Start	18836034:18836034(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs747172727
CDS Mutation	c.7956G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000446231
Start	18849962:18849962(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5448T>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000446231
Start	18896839:18896839(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.210G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000446231
Start	18882189:18882189(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1269A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000446231
Start	18892317:18892317(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs763134686
CDS Mutation	c.450G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000446231
Start	18833032:18833032(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8700G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000446231
Start	18833068:18833068(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755001924
CDS Mutation	c.8664C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000446231
Start	18869285:18869285(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2652A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000446231
Start	18811788:18811788(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs370585828
CDS Mutation	c.10881G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000446231
Start	18830333:18830333(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs760495007
CDS Mutation	c.8829G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000446231
Start	18842299:18842299(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs777875498
CDS Mutation	c.6375C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	stop_gained
Transcription ID	ENST00000446231
Start	18834992:18834992(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8230G>T
AA Mutation	p.Glu2744Ter(p.E2744*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	35
Mutation Consequence	stop_gained;splice_region_variant
Transcription ID	ENST00000446231
Start	18845650:18845650(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5998G>T
AA Mutation	p.Glu2000Ter(p.E2000*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	36
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000446231
Start	18828132:18828133(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.9639_9640insAGAAAAT
AA Mutation	p.Ala3214ArgfsTer29(p.A3214Rfs*29)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	37
Mutation Consequence	inframe_insertion
Transcription ID	ENST00000446231
Start	18815579:18815580(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.10374_10375insCTTATGTTT
AA Mutation	p.Glu3458_Tyr3459insLeuMetPhe(p.E3458_Y3459insLMF)
Mutation Classification	In_Frame_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> SMG1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000446231
Start	18829504:18829504(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9385G>A
AA Mutation	p.Glu3129Lys(p.E3129K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000446231
Start	18892344:18892344(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.423G>T
AA Mutation	p.Met141Ile(p.M141I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000446231
Start	18817427:18817427(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9938G>A
AA Mutation	p.Arg3313Gln(p.R3313Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000446231
Start	18869887:18869887(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2600G>A
AA Mutation	p.Ser867Asn(p.S867N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000446231
Start	18853625:18853625(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4726A>G
AA Mutation	p.Thr1576Ala(p.T1576A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000446231
Start	18876298:18876298(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1716G>T
AA Mutation	p.Met572Ile(p.M572I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000446231
Start	18858210:18858210(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4194G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	stop_gained
Transcription ID	ENST00000446231
Start	18847980:18847980(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5677G>T
AA Mutation	p.Glu1893Ter(p.E1893*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript