Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> CSPG4

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000308508
Start	75689801:75689801(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1264C>T
AA Mutation	p.Pro422Ser(p.P422S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000308508
Start	75685236:75685236(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4255G>A
AA Mutation	p.Ala1419Thr(p.A1419T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000308508
Start	75690142:75690142(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs775870127
CDS Mutation	c.923C>T
AA Mutation	p.Ser308Leu(p.S308L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000308508
Start	75688426:75688426(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2639C>T
AA Mutation	p.Pro880Leu(p.P880L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000308508
Start	75677781:75677781(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs760817564
CDS Mutation	c.5056G>A
AA Mutation	p.Val1686Met(p.V1686M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000308508
Start	75688243:75688243(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs573119481
CDS Mutation	c.2822G>A
AA Mutation	p.Arg941His(p.R941H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000308508
Start	75675972:75675972(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6547C>T
AA Mutation	p.Arg2183Trp(p.R2183W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000308508
Start	75676910:75676910(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5609A>G
AA Mutation	p.Tyr1870Cys(p.Y1870C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000308508
Start	75676962:75676962(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs371534014
CDS Mutation	c.5557C>T
AA Mutation	p.Arg1853Trp(p.R1853W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000308508
Start	75676536:75676536(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs529993656
CDS Mutation	c.5983C>T
AA Mutation	p.Arg1995Trp(p.R1995W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000308508
Start	75689644:75689644(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200809992
CDS Mutation	c.1421G>A
AA Mutation	p.Arg474Gln(p.R474Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000308508
Start	75689984:75689984(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1081A>G
AA Mutation	p.Asn361Asp(p.N361D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000308508
Start	75687319:75687319(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3746T>C
AA Mutation	p.Val1249Ala(p.V1249A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000308508
Start	75689217:75689217(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1848C>A
AA Mutation	p.Phe616Leu(p.F616L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000308508
Start	75677382:75677382(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5137C>T
AA Mutation	p.Leu1713Phe(p.L1713F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000308508
Start	75693141:75693141(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs771318308
CDS Mutation	c.181G>A
AA Mutation	p.Glu61Lys(p.E61K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000308508
Start	75688818:75688818(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2247G>T
AA Mutation	p.Gln749His(p.Q749H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000308508
Start	75675725:75675725(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs765597004
CDS Mutation	c.6794G>A
AA Mutation	p.Arg2265His(p.R2265H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000308508
Start	75675779:75675779(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs139353980
CDS Mutation	c.6740G>A
AA Mutation	p.Arg2247Gln(p.R2247Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000308508
Start	75684764:75684764(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4421C>A
AA Mutation	p.Pro1474His(p.P1474H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000308508
Start	75685424:75685424(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4067C>T
AA Mutation	p.Ala1356Val(p.A1356V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000308508
Start	75688421:75688421(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2644T>G
AA Mutation	p.Tyr882Asp(p.Y882D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000308508
Start	75687786:75687786(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs144239750
CDS Mutation	c.3279C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000308508
Start	75690150:75690150(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs772770210
CDS Mutation	c.915G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000308508
Start	75687738:75687738(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs778413411
CDS Mutation	c.3327C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000308508
Start	75677794:75677794(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201672528
CDS Mutation	c.5043G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000308508
Start	75688875:75688875(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs779333895
CDS Mutation	c.2190G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000308508
Start	75685612:75685612(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs148235400
CDS Mutation	c.3879C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000308508
Start	75687861:75687861(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs530179831
CDS Mutation	c.3204C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000308508
Start	75689760:75689760(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1305C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000308508
Start	75675565:75675565(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6954C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000308508
Start	75687918:75687918(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs142273329
CDS Mutation	c.3147G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000308508
Start	75688157:75688157(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2908C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000308508
Start	75688134:75688134(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs150737913
CDS Mutation	c.2931C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	35
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000308508
Start	75690291:75690291(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.774C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	36
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000308508
Start	75712738:75712738(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.18G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	37
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000308508
Start	75683021:75683021(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs765075048
CDS Mutation	c.4470G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	38
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000308508
Start	75685453:75685453(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs746927373
CDS Mutation	c.4038C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	39
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000308508
Start	75689737:75689737(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs772622628
CDS Mutation	c.1328delG
AA Mutation	p.Gly443AlafsTer16(p.G443Afs*16)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	40
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000308508
Start	75677845:75677845(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.4992delC
AA Mutation	p.Glu1665SerfsTer10(p.E1665Sfs*10)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	41
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000308508
Start	75687352:75687352(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.3713delC
AA Mutation	p.Pro1238HisfsTer2(p.P1238Hfs*2)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	42
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000308508
Start	75690331:75690331(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.734delG
AA Mutation	p.Gly245AlafsTer98(p.G245Afs*98)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Rectum Cancer: Gene >> CSPG4

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000308508
Start	75690224:75690224(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs140241379
CDS Mutation	c.841G>A
AA Mutation	p.Asp281Asn(p.D281N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000308508
Start	75685495:75685495(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3996C>A
AA Mutation	p.Phe1332Leu(p.F1332L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000308508
Start	75685405:75685405(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs570160647
CDS Mutation	c.4086G>A
Mutation Classification	Silent
Feature Type	Transcript