Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> CHD3

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000330494
Start	7910878:7910878(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs561278276
CDS Mutation	c.5786C>T
AA Mutation	p.Pro1929Leu(p.P1929L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000330494
Start	7894545:7894545(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1206C>A
AA Mutation	p.His402Gln(p.H402Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000330494
Start	7909186:7909186(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5438C>T
AA Mutation	p.Ala1813Val(p.A1813V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000330494
Start	7903835:7903835(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3738G>T
AA Mutation	p.Lys1246Asn(p.K1246N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000330494
Start	7903339:7903339(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3563C>T
AA Mutation	p.Ala1188Val(p.A1188V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000330494
Start	7899376:7899376(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2377C>A
AA Mutation	p.Pro793Thr(p.P793T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000330494
Start	7907660:7907660(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4984A>T
AA Mutation	p.Arg1662Trp(p.R1662W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000330494
Start	7894546:7894546(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1207C>A
AA Mutation	p.Leu403Ile(p.L403I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000330494
Start	7890611:7890611(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs758459375
CDS Mutation	c.254G>A
AA Mutation	p.Arg85Gln(p.R85Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000330494
Start	7910934:7910934(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5842G>A
AA Mutation	p.Ala1948Thr(p.A1948T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000330494
Start	7899102:7899102(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2243G>A
AA Mutation	p.Arg748His(p.R748H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000330494
Start	7889760:7889760(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs764841082
CDS Mutation	c.197G>A
AA Mutation	p.Arg66Gln(p.R66Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000330494
Start	7893479:7893479(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.703G>T
AA Mutation	p.Ala235Ser(p.A235S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000330494
Start	7889062:7889062(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.62C>A
AA Mutation	p.Ser21Tyr(p.S21Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000330494
Start	7898082:7898082(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2031G>T
AA Mutation	p.Lys677Asn(p.K677N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000330494
Start	7900649:7900649(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2896C>T
AA Mutation	p.Arg966Trp(p.R966W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000330494
Start	7900027:7900027(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2676G>T
AA Mutation	p.Gln892His(p.Q892H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000330494
Start	7900028:7900028(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2677T>G
AA Mutation	p.Ser893Ala(p.S893A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000330494
Start	7905665:7905665(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4183C>A
AA Mutation	p.Pro1395Thr(p.P1395T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000330494
Start	7910428:7910428(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5591T>C
AA Mutation	p.Val1864Ala(p.V1864A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000330494
Start	7903412:7903412(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3636G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000330494
Start	7893412:7893412(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.636A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000330494
Start	7893415:7893415(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.639G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000330494
Start	7898526:7898526(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2082G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000330494
Start	7905691:7905691(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs747819036
CDS Mutation	c.4209C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000330494
Start	7895027:7895027(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1380C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000330494
Start	7893509:7893509(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.737delC
AA Mutation	p.Pro246LeufsTer49(p.P246Lfs*49)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000330494
Start	7895447:7895447(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1618delC
AA Mutation	p.Arg540ValfsTer16(p.R540Vfs*16)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000330494
Start	7894438:7894438(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1102delG
AA Mutation	p.Glu368ArgfsTer116(p.E368Rfs*116)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000330494
Start	7890683:7890683(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.332delA
AA Mutation	p.Lys111ArgfsTer30(p.K111Rfs*30)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000330494
Start	7895385:7895385(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1555delG
AA Mutation	p.Glu519SerfsTer4(p.E519Sfs*4)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000330494
Start	7899148:7899148(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.2292delG
AA Mutation	p.Leu765Ter(p.L765*)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	stop_gained
Transcription ID	ENST00000330494
Start	7911553:7911553(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5971C>T
AA Mutation	p.Arg1991Ter(p.R1991*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	stop_gained
Transcription ID	ENST00000330494
Start	7910852:7910852(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5760C>A
AA Mutation	p.Tyr1920Ter(p.Y1920*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	35
Mutation Consequence	stop_gained
Transcription ID	ENST00000330494
Start	7889759:7889759(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.196C>T
AA Mutation	p.Arg66Ter(p.R66*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	36
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000330494
Start	7895384:7895385(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.1555dupG
AA Mutation	p.Glu519GlyfsTer68(p.E519Gfs*68)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	37
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000330494
Start	7889068:7889069(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.68_69insCA
AA Mutation	p.Pro24IlefsTer25(p.P24Ifs*25)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	38
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000330494
Start	7893804:7893804(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.794delG
AA Mutation	p.Gly265ValfsTer30(p.X265_splice)
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	39
Mutation Consequence	protein_altering_variant
Transcription ID	ENST00000330494
Start	7889070:7889071(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.70_71insTCCCTG
AA Mutation	p.Pro24delinsLeuProAla(p.P24delinsLPA)
Mutation Classification	In_Frame_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> CHD3

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000330494
Start	7889062:7889062(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.62C>A
AA Mutation	p.Ser21Tyr(p.S21Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000330494
Start	7900902:7900902(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3029G>A
AA Mutation	p.Arg1010Gln(p.R1010Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000330494
Start	7908447:7908447(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5198C>T
AA Mutation	p.Ser1733Leu(p.S1733L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000330494
Start	7889760:7889760(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs764841082
CDS Mutation	c.197G>A
AA Mutation	p.Arg66Gln(p.R66Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000330494
Start	7899157:7899157(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2298C>T
Mutation Classification	Silent
Feature Type	Transcript