Mutation

Primary Site >> Liver Cancer

Gene >> ABCA1

ID	1
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000374736
Start	104822496:104822496(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2828T>C
AA Mutation	p.Met943Thr(p.M943T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000374736
Start	104799925:104799925(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4837A>G
AA Mutation	p.Ile1613Val(p.I1613V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000374736
Start	104809512:104809512(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4228A>G
AA Mutation	p.Lys1410Glu(p.K1410E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000374736
Start	104832723:104832723(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1360G>A
AA Mutation	p.Asp454Asn(p.D454N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000374736
Start	104837513:104837513(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1109T>C
AA Mutation	p.Ile370Thr(p.I370T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000374736
Start	104845502:104845502(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs763689519
CDS Mutation	c.788A>G
AA Mutation	p.His263Arg(p.H263R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000374736
Start	104785562:104785562(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6479G>C
AA Mutation	p.Gly2160Ala(p.G2160A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000374736
Start	104858642:104858642(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.600A>T
Mutation Classification	Silent
Feature Type	Transcript