Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> CPS1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000233072
Start	210576468:210576468(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.359A>G
AA Mutation	p.Tyr120Cys(p.Y120C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000233072
Start	210590899:210590899(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.940G>A
AA Mutation	p.Ala314Thr(p.A314T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000233072
Start	210616521:210616521(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2667G>T
AA Mutation	p.Lys889Asn(p.K889N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000233072
Start	210677024:210677024(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs754446815
CDS Mutation	c.4292G>A
AA Mutation	p.Ser1431Asn(p.S1431N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000233072
Start	210650420:210650420(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3462G>T
AA Mutation	p.Glu1154Asp(p.E1154D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000233072
Start	210590167:210590167(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.773G>A
AA Mutation	p.Gly258Glu(p.G258E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000233072
Start	210658630:210658630(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3698C>A
AA Mutation	p.Ala1233Asp(p.A1233D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000233072
Start	210602324:210602324(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1830C>A
AA Mutation	p.Ser610Arg(p.S610R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000233072
Start	210612201:210612201(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs757451824
CDS Mutation	c.2476C>T
AA Mutation	p.Arg826Cys(p.R826C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000233072
Start	210677090:210677090(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4358G>A
AA Mutation	p.Arg1453Gln(p.R1453Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000233072
Start	210606769:210606769(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2020A>G
AA Mutation	p.Asn674Asp(p.N674D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000233072
Start	210606911:210606911(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs752339705
CDS Mutation	c.2162G>A
AA Mutation	p.Arg721Gln(p.R721Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000233072
Start	210639192:210639192(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2872C>A
AA Mutation	p.Leu958Ile(p.L958I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000233072
Start	210608528:210608528(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs571936934
CDS Mutation	c.2360G>A
AA Mutation	p.Arg787Gln(p.R787Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000233072
Start	210639186:210639186(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2866A>C
AA Mutation	p.Asn956His(p.N956H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000233072
Start	210576399:210576399(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.290C>A
AA Mutation	p.Ala97Asp(p.A97D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000233072
Start	210648043:210648043(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3322G>T
AA Mutation	p.Ala1108Ser(p.A1108S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000233072
Start	210590816:210590816(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs148654695
CDS Mutation	c.857G>A
AA Mutation	p.Arg286His(p.R286H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000233072
Start	210654047:210654047(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3503A>C
AA Mutation	p.Lys1168Thr(p.K1168T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000233072
Start	210595550:210595550(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1327T>C
AA Mutation	p.Tyr443His(p.Y443H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000233072
Start	210677944:210677944(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4462C>T
AA Mutation	p.Leu1488Phe(p.L1488F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000233072
Start	210647879:210647879(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3158T>A
AA Mutation	p.Ile1053Asn(p.I1053N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	missense_variant
Transcription ID	ENST00000233072
Start	210612165:210612165(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs772782772
CDS Mutation	c.2440C>T
AA Mutation	p.Arg814Trp(p.R814W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	missense_variant
Transcription ID	ENST00000233072
Start	210642526:210642526(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs545355868
CDS Mutation	c.3002G>A
AA Mutation	p.Arg1001His(p.R1001H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	missense_variant
Transcription ID	ENST00000233072
Start	210608476:210608476(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2308G>A
AA Mutation	p.Val770Ile(p.V770I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000233072
Start	210642563:210642563(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3039G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000233072
Start	210660643:210660643(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3915T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000233072
Start	210599512:210599512(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1500G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000233072
Start	210594576:210594576(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs779447126
CDS Mutation	c.1233G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000233072
Start	210594522:210594522(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1179C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	stop_gained
Transcription ID	ENST00000233072
Start	210595541:210595541(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1318G>T
AA Mutation	p.Glu440Ter(p.E440*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	stop_gained;frameshift_variant
Transcription ID	ENST00000233072
Start	210677942:210677943(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.4460_4461insATAAAAGTGAA
AA Mutation	p.Ser1487ArgfsTer2(p.S1487Rfs*2)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> CPS1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000233072
Start	210637815:210637815(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2801A>C
AA Mutation	p.Lys934Thr(p.K934T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000233072
Start	210602244:210602244(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1750G>A
AA Mutation	p.Val584Met(p.V584M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000233072
Start	210556748:210556748(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.15G>T
AA Mutation	p.Leu5Phe(p.L5F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000233072
Start	210602306:210602306(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1812G>T
AA Mutation	p.Glu604Asp(p.E604D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000233072
Start	210608528:210608528(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs571936934
CDS Mutation	c.2360G>A
AA Mutation	p.Arg787Gln(p.R787Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000233072
Start	210660557:210660557(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3829G>T
AA Mutation	p.Asp1277Tyr(p.D1277Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000233072
Start	210658615:210658615(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs778117194
CDS Mutation	c.3683G>A
AA Mutation	p.Arg1228Gln(p.R1228Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000233072
Start	210612167:210612167(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2442G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	stop_gained
Transcription ID	ENST00000233072
Start	210605162:210605162(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1897G>T
AA Mutation	p.Glu633Ter(p.E633*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	stop_gained
Transcription ID	ENST00000233072
Start	210654067:210654067(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3523G>T
AA Mutation	p.Glu1175Ter(p.E1175*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000233072
Start	210648472:210648472(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3337-1G>T
Mutation Classification	Splice_Site
Feature Type	Transcript