Primary Site >> Liver Cancer
Gene >> ABCA4
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000370225 |
| Start | 94077794:94077794(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1450A>G |
| AA Mutation | p.Lys484Glu(p.K484E) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000370225 |
| Start | 94051660:94051660(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2626C>A |
| AA Mutation | p.Gln876Lys(p.Q876K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000370225 |
| Start | 94029627:94029627(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4357T>A |
| AA Mutation | p.Tyr1453Asn(p.Y1453N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000370225 |
| Start | 94062650:94062650(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1864A>C |
| AA Mutation | p.Ser622Arg(p.S622R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000370225 |
| Start | 94113015:94113015(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs761112891 |
| CDS Mutation | c.118A>G |
| AA Mutation | p.Ile40Val(p.I40V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000370225 |
| Start | 94103085:94103085(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.500T>G |
| AA Mutation | p.Leu167Arg(p.L167R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000370225 |
| Start | 94043355:94043355(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.3171A>T |
| AA Mutation | p.Glu1057Asp(p.E1057D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 8 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000370225 |
| Start | 94111502:94111502(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.238C>A |
| AA Mutation | p.Pro80Thr(p.P80T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 9 |
| Mutation Consequence | missense_variant;splice_region_variant |
| Transcription ID | ENST00000370225 |
| Start | 94098795:94098795(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.767T>C |
| AA Mutation | p.Val256Ala(p.V256A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 10 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000370225 |
| Start | 94010810:94010810(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.5704C>T |
| AA Mutation | p.Leu1902Phe(p.L1902F) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 11 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000370225 |
| Start | 94083398:94083398(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.812G>T |
| AA Mutation | p.Arg271Ile(p.R271I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 12 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000370225 |
| Start | 94000898:94000898(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.6417G>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 13 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000370225 |
| Start | 94037199:94037199(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3759G>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 14 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000370225 |
| Start | 94111536:94111536(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs201725352 |
| CDS Mutation | c.204G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |