Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> RFC1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000381897
Start	39300070:39300070(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2762T>C
AA Mutation	p.Val921Ala(p.V921A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000381897
Start	39327649:39327649(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.439A>C
AA Mutation	p.Asn147His(p.N147H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000381897
Start	39289991:39289991(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3220C>T
AA Mutation	p.Pro1074Ser(p.P1074S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000381897
Start	39308995:39308995(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1526A>C
AA Mutation	p.Lys509Thr(p.K509T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000381897
Start	39320413:39320413(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1065G>T
AA Mutation	p.Lys355Asn(p.K355N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000381897
Start	39351369:39351369(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.111G>T
AA Mutation	p.Lys37Asn(p.K37N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000381897
Start	39302345:39302345(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2471G>A
AA Mutation	p.Arg824Gln(p.R824Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000381897
Start	39303094:39303094(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2171G>A
AA Mutation	p.Gly724Asp(p.G724D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000381897
Start	39320465:39320465(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1013C>T
AA Mutation	p.Ser338Leu(p.S338L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000381897
Start	39308744:39308744(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs139096199
CDS Mutation	c.1777A>G
AA Mutation	p.Thr593Ala(p.T593A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000381897
Start	39308650:39308650(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1871A>G
AA Mutation	p.Glu624Gly(p.E624G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000381897
Start	39309007:39309007(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1514G>T
AA Mutation	p.Arg505Ile(p.R505I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000381897
Start	39288835:39288835(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3373A>C
AA Mutation	p.Lys1125Gln(p.K1125Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000381897
Start	39316970:39316970(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1148G>A
AA Mutation	p.Arg383Gln(p.R383Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000381897
Start	39327659:39327659(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.429G>T
AA Mutation	p.Lys143Asn(p.K143N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000381897
Start	39308889:39308889(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1632G>T
AA Mutation	p.Lys544Asn(p.K544N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000381897
Start	39302563:39302563(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2376T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000381897
Start	39295754:39295754(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2817T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000381897
Start	39291672:39291672(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3138C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000381897
Start	39342434:39342434(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.242delA
AA Mutation	p.Asn81MetfsTer61(p.N81Mfs*61)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000381897
Start	39308992:39308992(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1529delA
AA Mutation	p.Asn510MetfsTer33(p.N510Mfs*33)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	stop_gained
Transcription ID	ENST00000381897
Start	39289919:39289919(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3292G>T
AA Mutation	p.Glu1098Ter(p.E1098*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	stop_gained
Transcription ID	ENST00000381897
Start	39316926:39316926(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1192G>T
AA Mutation	p.Glu398Ter(p.E398*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	stop_gained
Transcription ID	ENST00000381897
Start	39321371:39321371(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs760191657
CDS Mutation	c.724C>T
AA Mutation	p.Arg242Ter(p.R242*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	frameshift_variant;splice_region_variant
Transcription ID	ENST00000381897
Start	39323340:39323341(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.719dupA
AA Mutation	p.Ala241GlyfsTer20(p.A241Gfs*20)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000381897
Start	39326641:39326641(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.565-1G>T
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> RFC1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000381897
Start	39308674:39308674(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs761854574
CDS Mutation	c.1847G>A
AA Mutation	p.Arg616Gln(p.R616Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000381897
Start	39289933:39289933(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs758666616
CDS Mutation	c.3278C>T
AA Mutation	p.Ser1093Leu(p.S1093L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000381897
Start	39302743:39302743(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2337G>T
AA Mutation	p.Gln779His(p.Q779H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000381897
Start	39309027:39309027(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1494G>T
AA Mutation	p.Lys498Asn(p.K498N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000381897
Start	39320624:39320624(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.854G>T
AA Mutation	p.Arg285Met(p.R285M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000381897
Start	39300395:39300395(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs762772857
CDS Mutation	c.2558G>A
AA Mutation	p.Arg853Gln(p.R853Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000381897
Start	39288767:39288767(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3441G>T
AA Mutation	p.Lys1147Asn(p.K1147N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000381897
Start	39295712:39295712(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2859G>T
AA Mutation	p.Met953Ile(p.M953I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000381897
Start	39320469:39320469(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1009G>A
AA Mutation	p.Ala337Thr(p.A337T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000381897
Start	39327561:39327561(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs765456455
CDS Mutation	c.527G>A
AA Mutation	p.Arg176Lys(p.R176K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000381897
Start	39326590:39326590(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs767968676
CDS Mutation	c.615G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000381897
Start	39289932:39289932(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201096166
CDS Mutation	c.3279G>A
Mutation Classification	Silent
Feature Type	Transcript