Mutation

Primary Site >> Stomach Cancer

Gene >> ABCA1

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000374736
Start	104883069:104883069(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.391A>T
AA Mutation	p.Thr131Ser(p.T131S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000374736
Start	104824552:104824552(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2569T>C
AA Mutation	p.Tyr857His(p.Y857H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000374736
Start	104809521:104809521(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs189206655
CDS Mutation	c.4219G>A
AA Mutation	p.Ala1407Thr(p.A1407T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000374736
Start	104785429:104785429(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs760311331
CDS Mutation	c.6612A>C
AA Mutation	p.Glu2204Asp(p.E2204D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000374736
Start	104819959:104819959(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3071G>A
AA Mutation	p.Ser1024Asn(p.S1024N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000374736
Start	104792814:104792814(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5729A>T
AA Mutation	p.Asp1910Val(p.D1910V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000374736
Start	104861704:104861704(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.518T>C
AA Mutation	p.Leu173Pro(p.L173P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000374736
Start	104883150:104883150(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs141348278
CDS Mutation	c.310C>T
AA Mutation	p.Arg104Cys(p.R104C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000374736
Start	104786362:104786362(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6337A>G
AA Mutation	p.Arg2113Gly(p.R2113G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000374736
Start	104788460:104788460(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6035T>C
AA Mutation	p.Leu2012Pro(p.L2012P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000374736
Start	104793291:104793291(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs139363994
CDS Mutation	c.5516G>A
AA Mutation	p.Arg1839His(p.R1839H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000374736
Start	104821466:104821466(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755100870
CDS Mutation	c.2869G>A
AA Mutation	p.Ala957Thr(p.A957T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000374736
Start	104832596:104832596(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs562901144
CDS Mutation	c.1487G>A
AA Mutation	p.Arg496Gln(p.R496Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000374736
Start	104826956:104826956(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2329A>G
AA Mutation	p.Ile777Val(p.I777V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000374736
Start	104829095:104829095(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1936C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000374736
Start	104791957:104791957(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs112103305
CDS Mutation	c.5799C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000374736
Start	104825753:104825753(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs533413438
CDS Mutation	c.2472G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000374736
Start	104784408:104784408(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6693A>G
Mutation Classification	Silent
Feature Type	Transcript

ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000374736
Start	104786378:104786378(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6321T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	20
Mutation Consequence	frameshift_variant;splice_region_variant
Transcription ID	ENST00000374736
Start	104837428:104837459(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1163_1194delACACTCCAGCCACAAGGCAGGTCATGGCTGAG
AA Mutation	p.Asp388GlyfsTer13(p.D388Gfs*13)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	21
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000374736
Start	104794425:104794435(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.5458_5468delATCGACATGGT
AA Mutation	p.Ile1820GlufsTer7(p.I1820Efs*7)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	22
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000374736
Start	104861731:104861731(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.491delT
AA Mutation	p.Leu164ProfsTer10(p.L164Pfs*10)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	23
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000374736
Start	104825834:104825834(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2391delT
AA Mutation	p.Phe797LeufsTer31(p.F797Lfs*31)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	24
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000374736
Start	104806256:104806256(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.4449delG
AA Mutation	p.Leu1484CysfsTer17(p.L1484Cfs*17)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	25
Mutation Consequence	stop_gained
Transcription ID	ENST00000374736
Start	104802125:104802125(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4627C>T
AA Mutation	p.Gln1543Ter(p.Q1543*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	26
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000374736
Start	104786300:104786301(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.6398dupA
AA Mutation	p.Asn2133LysfsTer2(p.N2133Kfs*2)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript