Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> COL3A1

Mutation ID	1
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000304636
Start	188993458:188993458(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1148C>A
AA Mutation	p.Pro383His(p.P383H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000304636
Start	189006955:189006955(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs587779554
CDS Mutation	c.3220G>A
AA Mutation	p.Gly1074Ser(p.G1074S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000304636
Start	188984921:188984921(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.241T>C
AA Mutation	p.Phe81Leu(p.F81L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000304636
Start	189003414:189003414(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2557C>A
AA Mutation	p.Pro853Thr(p.P853T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000304636
Start	188995050:188995050(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs770157568
CDS Mutation	c.1460C>T
AA Mutation	p.Ala487Val(p.A487V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000304636
Start	189011655:189011655(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4282G>A
AA Mutation	p.Val1428Ile(p.V1428I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000304636
Start	188992911:188992911(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1021G>T
AA Mutation	p.Ala341Ser(p.A341S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000304636
Start	188994577:188994577(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs587779489
CDS Mutation	c.1330G>A
AA Mutation	p.Gly444Arg(p.G444R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000304636
Start	189009003:189009003(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3605C>T
AA Mutation	p.Ala1202Val(p.A1202V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000304636
Start	189011673:189011673(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs747324731
CDS Mutation	c.4300C>T
AA Mutation	p.Arg1434Cys(p.R1434C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000304636
Start	188998314:188998314(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs189846410
CDS Mutation	c.1972G>A
AA Mutation	p.Glu658Lys(p.E658K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000304636
Start	189005429:189005429(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3011C>T
AA Mutation	p.Ala1004Val(p.A1004V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000304636
Start	189006351:189006351(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3100C>T
AA Mutation	p.Arg1034Cys(p.R1034C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000304636
Start	189006211:189006211(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3045C>A
AA Mutation	p.Asn1015Lys(p.N1015K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000304636
Start	189001582:189001582(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2384G>A
AA Mutation	p.Gly795Asp(p.G795D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000304636
Start	189004354:189004354(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2921A>G
AA Mutation	p.Gln974Arg(p.Q974R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000304636
Start	189009168:189009168(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3770A>C
AA Mutation	p.Asn1257Thr(p.N1257T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000304636
Start	188997355:188997355(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1835G>T
AA Mutation	p.Gly612Val(p.G612V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000304636
Start	188987080:188987080(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.469T>G
AA Mutation	p.Ser157Ala(p.S157A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000304636
Start	188999548:188999548(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2200C>A
AA Mutation	p.Leu734Ile(p.L734I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000304636
Start	188990118:188990118(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs760324242
CDS Mutation	c.713G>A
AA Mutation	p.Arg238Gln(p.R238Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000304636
Start	188997189:188997189(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1786C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000304636
Start	189005376:189005376(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs41264441
CDS Mutation	c.2958C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000304636
Start	189009121:189009121(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3723T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000304636
Start	188996403:188996403(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1668T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000304636
Start	189010656:189010656(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766750333
CDS Mutation	c.4020C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000304636
Start	188994272:188994272(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs573198491
CDS Mutation	c.1233A>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000304636
Start	189008983:189008983(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3585T>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000304636
Start	188991039:188991039(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.834A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000304636
Start	188994320:188994320(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs750476636
CDS Mutation	c.1281G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000304636
Start	188985219:188985219(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.306delA
AA Mutation	p.Gly103AspfsTer62(p.G103Dfs*62)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000304636
Start	189001549:189001549(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.2355delC
AA Mutation	p.Gly786AspfsTer5(p.G786Dfs*5)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	frameshift_variant;splice_region_variant
Transcription ID	ENST00000304636
Start	188988083:188988083(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.536delC
AA Mutation	p.Pro179GlnfsTer43(p.P179Qfs*43)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	stop_gained
Transcription ID	ENST00000304636
Start	188992208:188992208(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs587779607
CDS Mutation	c.976C>T
AA Mutation	p.Arg326Ter(p.R326*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	35
Mutation Consequence	stop_gained
Transcription ID	ENST00000304636
Start	188996449:188996449(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs572097661
CDS Mutation	c.1714C>T
AA Mutation	p.Arg572Ter(p.R572*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	36
Mutation Consequence	stop_gained
Transcription ID	ENST00000304636
Start	188995061:188995061(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1471C>T
AA Mutation	p.Arg491Ter(p.R491*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	37
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000304636
Start	189010849:189010850(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.4213_4214insGTTCAGG
AA Mutation	p.Asn1405SerfsTer4(p.N1405Sfs*4)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> COL3A1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000304636
Start	189004118:189004118(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2798G>T
AA Mutation	p.Gly933Val(p.G933V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000304636
Start	189011748:189011748(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4375G>T
AA Mutation	p.Asp1459Tyr(p.D1459Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000304636
Start	188984861:188984861(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.181C>A
AA Mutation	p.Leu61Ile(p.L61I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000304636
Start	188990312:188990312(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.750C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000304636
Start	189004008:189004008(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs112723105
CDS Mutation	c.2688C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000304636
Start	189005364:189005364(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2946A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	frameshift_variant;splice_region_variant
Transcription ID	ENST00000304636
Start	188990149:188990149(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.744delA
AA Mutation	p.Gly249ValfsTer14(p.G249Vfs*14)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	stop_gained
Transcription ID	ENST00000304636
Start	188990117:188990117(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.712C>T
AA Mutation	p.Arg238Ter(p.R238*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript