Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ABCB4

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000265723
Start	87402208:87402208(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3749T>C
AA Mutation	p.Val1250Ala(p.V1250A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000265723
Start	87426798:87426798(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2016A>C
AA Mutation	p.Lys672Asn(p.K672N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000265723
Start	87450076:87450076(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.725G>A
AA Mutation	p.Ser242Asn(p.S242N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000265723
Start	87426832:87426832(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs532332220
CDS Mutation	c.1982G>A
AA Mutation	p.Arg661His(p.R661H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000265723
Start	87431519:87431519(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs571555115
CDS Mutation	c.1778C>T
AA Mutation	p.Thr593Met(p.T593M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000265723
Start	87439828:87439828(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1570A>G
AA Mutation	p.Thr524Ala(p.T524A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000265723
Start	87426856:87426856(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1958T>A
AA Mutation	p.Met653Lys(p.M653K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000265723
Start	87440351:87440351(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1408G>A
AA Mutation	p.Glu470Lys(p.E470K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000265723
Start	87426820:87426820(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1994A>G
AA Mutation	p.His665Arg(p.H665R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000265723
Start	87423940:87423940(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2177C>A
AA Mutation	p.Pro726Gln(p.P726Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000265723
Start	87408179:87408179(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs774151533
CDS Mutation	c.3137G>A
AA Mutation	p.Arg1046Gln(p.R1046Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265723
Start	87409239:87409239(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3078G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265723
Start	87402171:87402171(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3786G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265723
Start	87451764:87451764(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.567T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265723
Start	87422211:87422211(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773668999
CDS Mutation	c.2226C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000265723
Start	87450048:87450048(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.753delA
AA Mutation	p.Ala252GlnfsTer15(p.A252Qfs*15)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000265723
Start	87423948:87423948(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.2169delG
AA Mutation	p.Leu724PhefsTer13(p.L724Ffs*13)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000265723
Start	87453018:87453018(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.462delT
AA Mutation	p.His155MetfsTer8(p.H155Mfs*8)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000265723
Start	87444966:87444966(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs753104429
CDS Mutation	c.1015delT
AA Mutation	p.Ser339GlnfsTer3(p.S339Qfs*3)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000265723
Start	87418592:87418592(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.2423delA
AA Mutation	p.Asn808ThrfsTer27(p.N808Tfs*27)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	stop_gained
Transcription ID	ENST00000265723
Start	87453050:87453050(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs72552780
CDS Mutation	c.430C>T
AA Mutation	p.Arg144Ter(p.R144*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	stop_gained
Transcription ID	ENST00000265723
Start	87417332:87417332(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2662G>T
AA Mutation	p.Glu888Ter(p.E888*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000265723
Start	87472655:87472656(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.100dupA
AA Mutation	p.Thr34AsnfsTer21(p.T34Nfs*21)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000265723
Start	87450076:87450077(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.724_725insAACCA
AA Mutation	p.Ser242LysfsTer7(p.S242Kfs*7)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	inframe_insertion
Transcription ID	ENST00000265723
Start	87450078:87450079(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.722_723insCCT
AA Mutation	p.Phe241_Ser242insLeu(p.F241_S242insL)
Mutation Classification	In_Frame_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> ABCB4

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000265723
Start	87462761:87462761(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs377268767
CDS Mutation	c.283C>T
AA Mutation	p.Pro95Ser(p.P95S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000265723
Start	87426884:87426884(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1930C>G
AA Mutation	p.Leu644Val(p.L644V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000265723
Start	87462827:87462827(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.217C>T
AA Mutation	p.Leu73Phe(p.L73F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000265723
Start	87443769:87443769(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1124C>A
AA Mutation	p.Pro375His(p.P375H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000265723
Start	87431451:87431451(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs370195624
CDS Mutation	c.1846G>A
AA Mutation	p.Glu616Lys(p.E616K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000265723
Start	87447056:87447056(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.983A>C
AA Mutation	p.Tyr328Ser(p.Y328S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000265723
Start	87453004:87453004(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.476G>A
AA Mutation	p.Arg159Gln(p.R159Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265723
Start	87411919:87411919(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2898A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265723
Start	87412009:87412009(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2808C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265723
Start	87406489:87406489(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs561612231
CDS Mutation	c.3306C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265723
Start	87452961:87452961(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.519C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265723
Start	87422211:87422211(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773668999
CDS Mutation	c.2226C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	stop_gained
Transcription ID	ENST00000265723
Start	87423998:87423998(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2119G>T
AA Mutation	p.Glu707Ter(p.E707*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript