Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> NPC1L1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000289547
Start	44539107:44539107(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1290G>T
AA Mutation	p.Lys430Asn(p.K430N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000289547
Start	44536907:44536907(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1616C>T
AA Mutation	p.Ala539Val(p.A539V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000289547
Start	44539193:44539193(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs141973731
CDS Mutation	c.1204G>A
AA Mutation	p.Gly402Ser(p.G402S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000289547
Start	44515878:44515878(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs145729189
CDS Mutation	c.3802C>T
AA Mutation	p.Arg1268Cys(p.R1268C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000289547
Start	44517291:44517291(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3284C>A
AA Mutation	p.Ala1095Glu(p.A1095E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000289547
Start	44539009:44539009(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs149339774
CDS Mutation	c.1388G>A
AA Mutation	p.Arg463His(p.R463H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000289547
Start	44540014:44540014(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs149337001
CDS Mutation	c.383C>T
AA Mutation	p.Thr128Met(p.T128M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000289547
Start	44534469:44534469(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2144T>C
AA Mutation	p.Phe715Ser(p.F715S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000289547
Start	44539294:44539294(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200072878
CDS Mutation	c.1103C>T
AA Mutation	p.Ala368Val(p.A368V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000289547
Start	44516719:44516719(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3584T>G
AA Mutation	p.Leu1195Arg(p.L1195R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000289547
Start	44540285:44540285(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs372234110
CDS Mutation	c.112G>A
AA Mutation	p.Glu38Lys(p.E38K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000289547
Start	44516903:44516903(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3400A>G
AA Mutation	p.Thr1134Ala(p.T1134A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000289547
Start	44533843:44533843(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs765299082
CDS Mutation	c.2177G>A
AA Mutation	p.Arg726Gln(p.R726Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000289547
Start	44536265:44536265(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1845C>A
AA Mutation	p.Phe615Leu(p.F615L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000289547
Start	44516750:44516750(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3553C>A
AA Mutation	p.Leu1185Met(p.L1185M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000289547
Start	44536346:44536346(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1764G>T
AA Mutation	p.Gln588His(p.Q588H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000289547
Start	44540148:44540148(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs139883595
CDS Mutation	c.249C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000289547
Start	44539512:44539512(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200674464
CDS Mutation	c.885C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000289547
Start	44534489:44534489(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2124C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000289547
Start	44540085:44540085(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs143969683
CDS Mutation	c.312G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000289547
Start	44539023:44539023(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs148541253
CDS Mutation	c.1374G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000289547
Start	44538822:44538822(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1575T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000289547
Start	44539589:44539589(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.808delC
AA Mutation	p.Gln270ArgfsTer84(p.Q270Rfs*84)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000289547
Start	44538974:44538974(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1423delC
AA Mutation	p.Leu475SerfsTer35(p.L475Sfs*35)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	stop_gained
Transcription ID	ENST00000289547
Start	44533808:44533808(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2212C>T
AA Mutation	p.Arg738Ter(p.R738*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> NPC1L1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000289547
Start	44521027:44521027(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3045C>G
AA Mutation	p.Phe1015Leu(p.F1015L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000289547
Start	44539374:44539374(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1023C>G
AA Mutation	p.Phe341Leu(p.F341L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000289547
Start	44532211:44532211(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs748272080
CDS Mutation	c.2416C>T
AA Mutation	p.Arg806Trp(p.R806W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000289547
Start	44522183:44522183(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs139257371
CDS Mutation	c.2697G>A
Mutation Classification	Silent
Feature Type	Transcript