Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ABCB11

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000263817
Start	168958031:168958031(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2276C>A
AA Mutation	p.Ser759Tyr(p.S759Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000263817
Start	168970211:168970211(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1643T>G
AA Mutation	p.Phe548Cys(p.F548C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000263817
Start	168968434:168968434(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2068A>T
AA Mutation	p.Ser690Cys(p.S690C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000263817
Start	169013417:169013417(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.244A>G
AA Mutation	p.Ile82Val(p.I82V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000263817
Start	168935415:168935415(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2825A>T
AA Mutation	p.Glu942Val(p.E942V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000263817
Start	168932477:168932477(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3113C>T
AA Mutation	p.Thr1038Ile(p.T1038I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000263817
Start	168970116:168970116(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1738C>A
AA Mutation	p.Leu580Met(p.L580M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000263817
Start	168971872:168971872(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs750975007
CDS Mutation	c.1613A>G
AA Mutation	p.Tyr538Cys(p.Y538C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000263817
Start	168932507:168932507(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3083C>T
AA Mutation	p.Ala1028Val(p.A1028V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000263817
Start	169013381:169013381(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.280G>T
AA Mutation	p.Asp94Tyr(p.D94Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000263817
Start	168932441:168932441(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3149G>A
AA Mutation	p.Arg1050His(p.R1050H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000263817
Start	169018107:169018107(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.19C>A
AA Mutation	p.Leu7Ile(p.L7I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000263817
Start	168924706:168924706(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3716T>C
AA Mutation	p.Ile1239Thr(p.I1239T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000263817
Start	168990892:168990892(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.817G>T
AA Mutation	p.Ala273Ser(p.A273S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000263817
Start	168969539:168969539(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1822C>T
AA Mutation	p.His608Tyr(p.H608Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000263817
Start	168969446:168969446(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1915A>G
AA Mutation	p.Thr639Ala(p.T639A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000263817
Start	168930797:168930797(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs368393726
CDS Mutation	c.3279G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000263817
Start	168973775:168973775(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1374A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000263817
Start	168927246:168927246(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3528T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000263817
Start	168969504:168969504(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1857G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000263817
Start	168973727:168973727(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1422C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000263817
Start	168936428:168936428(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs528640585
CDS Mutation	c.2616C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000263817
Start	168927225:168927225(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs770770132
CDS Mutation	c.3549T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000263817
Start	168986263:168986263(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs372382608
CDS Mutation	c.930C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000263817
Start	168986209:168986209(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs769564355
CDS Mutation	c.984C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000263817
Start	169013412:169013412(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.249delT
AA Mutation	p.Phe83LeufsTer4(p.F83Lfs*4)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000263817
Start	168923711:168923711(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.3877delG
AA Mutation	p.Val1293TrpfsTer2(p.V1293Wfs*2)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000263817
Start	168932434:168932434(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.3156delT
AA Mutation	p.Gln1053AsnfsTer44(p.Q1053Nfs*44)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000263817
Start	168932380:168932380(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.3210delA
AA Mutation	p.Lys1070AsnfsTer27(p.K1070Nfs*27)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	stop_gained
Transcription ID	ENST00000263817
Start	168986136:168986136(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1057G>T
AA Mutation	p.Glu353Ter(p.E353*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	stop_gained
Transcription ID	ENST00000263817
Start	168995379:168995379(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.581C>A
AA Mutation	p.Ser194Ter(p.S194*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000263817
Start	168979913:168979914(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1149dupT
AA Mutation	p.Ala384CysfsTer12(p.A384Cfs*12)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> ABCB11

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000263817
Start	168935256:168935256(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2984C>T
AA Mutation	p.Ala995Val(p.A995V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000263817
Start	168995438:168995438(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.522G>A
AA Mutation	p.Met174Ile(p.M174I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000263817
Start	168944646:168944646(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2569T>G
AA Mutation	p.Leu857Val(p.L857V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000263817
Start	168993827:168993827(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs199841445
CDS Mutation	c.667C>T
AA Mutation	p.Arg223Cys(p.R223C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000263817
Start	168993765:168993765(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.729G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	stop_gained
Transcription ID	ENST00000263817
Start	168958104:168958104(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2203G>T
AA Mutation	p.Glu735Ter(p.E735*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	stop_gained
Transcription ID	ENST00000263817
Start	168986136:168986136(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1057G>T
AA Mutation	p.Glu353Ter(p.E353*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript