Primary Site >> Liver Cancer

Gene >> ABCA3

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000301732
Start 2289510:2289510(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2624G>T
AA Mutation p.Cys875Phe(p.C875F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000301732
Start 2298418:2298418(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1864A>G
AA Mutation p.Thr622Ala(p.T622A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000301732
Start 2277902:2277902(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368905104
CDS Mutation c.4886C>T
AA Mutation p.Ala1629Val(p.A1629V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000301732
Start 2286730:2286730(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs565777051
CDS Mutation c.3242G>A
AA Mutation p.Arg1081Gln(p.R1081Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence synonymous_variant
Transcription ID ENST00000301732
Start 2288102:2288102(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2928C>A
Mutation Classification Silent
Feature Type Transcript
ID 6
Mutation Consequence synonymous_variant
Transcription ID ENST00000301732
Start 2289467:2289467(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2667G>A
Mutation Classification Silent
Feature Type Transcript
ID 7
Mutation Consequence synonymous_variant
Transcription ID ENST00000301732
Start 2292160:2292160(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2493C>T
Mutation Classification Silent
Feature Type Transcript
ID 8
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000301732
Start 2298542:2298542(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1742-2A>G
Mutation Classification Splice_Site
Feature Type Transcript