Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> EP300

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000263253
Start	41117343:41117343(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.251T>C
AA Mutation	p.Leu84Ser(p.L84S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000263253
Start	41149039:41149039(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs754582079
CDS Mutation	c.2243C>T
AA Mutation	p.Pro748Leu(p.P748L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000263253
Start	41160692:41160692(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3641C>A
AA Mutation	p.Ser1214Tyr(p.S1214Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000263253
Start	41176346:41176346(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4879C>T
AA Mutation	p.Arg1627Trp(p.R1627W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000263253
Start	41170552:41170552(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs756061989
CDS Mutation	c.4433G>A
AA Mutation	p.Arg1478His(p.R1478H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000263253
Start	41160666:41160666(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3615C>A
AA Mutation	p.Phe1205Leu(p.F1205L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000263253
Start	41093030:41093030(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.26G>T
AA Mutation	p.Gly9Val(p.G9V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000263253
Start	41152324:41152324(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs770254783
CDS Mutation	c.3116C>T
AA Mutation	p.Pro1039Leu(p.P1039L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000263253
Start	41160704:41160704(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3653A>G
AA Mutation	p.Asp1218Gly(p.D1218G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000263253
Start	41176353:41176353(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4886C>T
AA Mutation	p.Ala1629Val(p.A1629V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000263253
Start	41137789:41137789(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1759C>T
AA Mutation	p.Leu587Phe(p.L587F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000263253
Start	41149893:41149893(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2512C>T
AA Mutation	p.Arg838Cys(p.R838C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000263253
Start	41169525:41169525(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4195G>A
AA Mutation	p.Asp1399Asn(p.D1399N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000263253
Start	41140163:41140163(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1784C>T
AA Mutation	p.Pro595Leu(p.P595L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000263253
Start	41135879:41135879(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1595T>G
AA Mutation	p.Met532Arg(p.M532R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000263253
Start	41131616:41131616(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1511G>T
AA Mutation	p.Arg504Leu(p.R504L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000263253
Start	41157323:41157323(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3416A>G
AA Mutation	p.Tyr1139Cys(p.Y1139C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000263253
Start	41137769:41137769(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1739G>A
AA Mutation	p.Arg580Gln(p.R580Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000263253
Start	41177196:41177196(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5485C>T
AA Mutation	p.Arg1829Cys(p.R1829C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000263253
Start	41117671:41117671(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs376004661
CDS Mutation	c.579C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000263253
Start	41178476:41178476(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6765C>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000263253
Start	41177573:41177573(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs565858141
CDS Mutation	c.5862C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000263253
Start	41150147:41150147(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs370810144
CDS Mutation	c.2766G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000263253
Start	41117536:41117536(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs376779611
CDS Mutation	c.444G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000263253
Start	41178530:41178530(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6819T>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000263253
Start	41177042:41177042(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs558982627
CDS Mutation	c.5331C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000263253
Start	41176405:41176405(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4938A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000263253
Start	41176904:41176904(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5193C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000263253
Start	41170521:41170521(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.4408delA
AA Mutation	p.Met1470CysfsTer26(p.M1470Cfs*26)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000263253
Start	41129973:41129973(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1256delA
AA Mutation	p.Asn419MetfsTer12(p.N419Mfs*12)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	stop_gained
Transcription ID	ENST00000263253
Start	41129910:41129910(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773503228
CDS Mutation	c.1189C>T
AA Mutation	p.Arg397Ter(p.R397*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	stop_gained
Transcription ID	ENST00000263253
Start	41149065:41149065(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2269C>T
AA Mutation	p.Gln757Ter(p.Q757*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	stop_gained
Transcription ID	ENST00000263253
Start	41151860:41151860(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2845G>T
AA Mutation	p.Gly949Ter(p.G949*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	stop_gained
Transcription ID	ENST00000263253
Start	41178483:41178483(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6772C>T
AA Mutation	p.Gln2258Ter(p.Q2258*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> EP300

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000263253
Start	41137769:41137769(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1739G>A
AA Mutation	p.Arg580Gln(p.R580Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000263253
Start	41176331:41176331(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs745809259
CDS Mutation	c.4864G>A
AA Mutation	p.Asp1622Asn(p.D1622N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000263253
Start	41177168:41177168(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5457G>T
AA Mutation	p.Gln1819His(p.Q1819H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000263253
Start	41149899:41149899(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2518C>A
AA Mutation	p.Pro840Thr(p.P840T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000263253
Start	41178832:41178832(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7121C>A
AA Mutation	p.Ser2374Tyr(p.S2374Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000263253
Start	41117189:41117189(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.97T>G
AA Mutation	p.Phe33Val(p.F33V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000263253
Start	41137732:41137732(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1702C>T
AA Mutation	p.Arg568Trp(p.R568W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000263253
Start	41178675:41178675(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.6970delC
AA Mutation	p.His2324ThrfsTer29(p.H2324Tfs*29)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	stop_gained
Transcription ID	ENST00000263253
Start	41117642:41117642(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.550C>T
AA Mutation	p.Gln184Ter(p.Q184*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000263253
Start	41137675:41137676(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1649_1650dupTG
AA Mutation	p.Pro551CysfsTer51(p.P551Cfs*51)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript