Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> NOTCH1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000277541
Start	136499139:136499139(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs3812597
CDS Mutation	c.6055G>A
AA Mutation	p.Ala2019Thr(p.A2019T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000277541
Start	136506919:136506919(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3698C>T
AA Mutation	p.Ser1233Phe(p.S1233F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000277541
Start	136500712:136500712(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5774A>G
AA Mutation	p.Asp1925Gly(p.D1925G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000277541
Start	136508964:136508964(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3077A>T
AA Mutation	p.Asp1026Val(p.D1026V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000277541
Start	136510749:136510749(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs767886377
CDS Mutation	c.2644G>A
AA Mutation	p.Ala882Thr(p.A882T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000277541
Start	136523117:136523117(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.475G>A
AA Mutation	p.Glu159Lys(p.E159K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000277541
Start	136502074:136502074(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5399C>T
AA Mutation	p.Ala1800Val(p.A1800V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000277541
Start	136509842:136509842(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2860T>C
AA Mutation	p.Cys954Arg(p.C954R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000277541
Start	136518699:136518699(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.991G>A
AA Mutation	p.Asp331Asn(p.D331N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000277541
Start	136502282:136502282(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs771399165
CDS Mutation	c.5374G>A
AA Mutation	p.Val1792Met(p.V1792M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000277541
Start	136507322:136507322(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3626G>A
AA Mutation	p.Cys1209Tyr(p.C1209Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000277541
Start	136497455:136497455(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs756874994
CDS Mutation	c.6284G>A
AA Mutation	p.Arg2095His(p.R2095H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000277541
Start	136500649:136500649(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs777423973
CDS Mutation	c.5837G>A
AA Mutation	p.Arg1946His(p.R1946H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000277541
Start	136503251:136503251(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5098G>A
AA Mutation	p.Ala1700Thr(p.A1700T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000277541
Start	136506716:136506716(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3901G>A
AA Mutation	p.Gly1301Arg(p.G1301R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000277541
Start	136513105:136513105(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2383T>G
AA Mutation	p.Cys795Gly(p.C795G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000277541
Start	136500667:136500667(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5819G>A
AA Mutation	p.Arg1940His(p.R1940H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000277541
Start	136518664:136518664(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755895298
CDS Mutation	c.1026C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000277541
Start	136507975:136507975(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs748055658
CDS Mutation	c.3490C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000277541
Start	136497286:136497286(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs377302245
CDS Mutation	c.6453C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000277541
Start	136513076:136513076(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2412C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000277541
Start	136509873:136509873(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2829G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000277541
Start	136517831:136517831(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs373152976
CDS Mutation	c.1362C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000277541
Start	136497055:136497055(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6684C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000277541
Start	136497103:136497103(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs370606059
CDS Mutation	c.6636C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000277541
Start	136497316:136497316(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs557375925
CDS Mutation	c.6423G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000277541
Start	136515640:136515640(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs767476967
CDS Mutation	c.1746C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000277541
Start	136517801:136517801(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs748499336
CDS Mutation	c.1392C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000277541
Start	136518613:136518613(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs202235419
CDS Mutation	c.1077C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000277541
Start	136515586:136515586(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755070916
CDS Mutation	c.1800C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000277541
Start	136500633:136500633(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs373902356
CDS Mutation	c.5853C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000277541
Start	136510666:136510666(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs752854629
CDS Mutation	c.2727C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000277541
Start	136496380:136496380(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7359G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000277541
Start	136515544:136515544(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs375349485
CDS Mutation	c.1842C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	35
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000277541
Start	136496509:136496509(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7230G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	36
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000277541
Start	136500624:136500624(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5862C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	37
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000277541
Start	136506596:136506596(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs747848111
CDS Mutation	c.3945C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	38
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000277541
Start	136500702:136500702(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773571672
CDS Mutation	c.5784C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	39
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000277541
Start	136497280:136497280(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6459G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	40
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000277541
Start	136517366:136517366(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs754876256
CDS Mutation	c.1461C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	41
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000277541
Start	136496284:136496284(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.7455delC
AA Mutation	p.Ser2486ArgfsTer103(p.S2486Rfs*103)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	42
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000277541
Start	136496532:136496532(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.7207delC
AA Mutation	p.Gln2403SerfsTer19(p.Q2403Sfs*19)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	43
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000277541
Start	136513051:136513052(version: GRCh38)
Mutation Type	INS
dbSNP_RS	rs35768530
CDS Mutation	c.2436dupG
AA Mutation	p.Tyr813ValfsTer15(p.Y813Vfs*15)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> NOTCH1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000277541
Start	136513526:136513526(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2219A>T
AA Mutation	p.Asp740Val(p.D740V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000277541
Start	136496772:136496772(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6967T>C
AA Mutation	p.Tyr2323His(p.Y2323H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript