Primary Site >> Liver Cancer
Gene >> FBN1
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48537653:48537653(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.694C>T |
| AA Mutation | p.Arg232Cys(p.R232C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48503810:48503810(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2090A>C |
| AA Mutation | p.Gln697Pro(p.Q697P) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48516333:48516333(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1177A>G |
| AA Mutation | p.Met393Val(p.M393V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48488415:48488415(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3161G>A |
| AA Mutation | p.Arg1054Lys(p.R1054K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48537790:48537790(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.557G>A |
| AA Mutation | p.Cys186Tyr(p.C186Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48463938:48463938(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.5026C>A |
| AA Mutation | p.Pro1676Thr(p.P1676T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | missense_variant;splice_region_variant |
| Transcription ID | ENST00000316623 |
| Start | 48468100:48468100(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4585A>T |
| AA Mutation | p.Thr1529Ser(p.T1529S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 8 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48537767:48537767(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.580A>T |
| AA Mutation | p.Met194Leu(p.M194L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 9 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48448836:48448836(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.5603C>A |
| AA Mutation | p.Thr1868Lys(p.T1868K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 10 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48510162:48510162(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1596T>G |
| AA Mutation | p.Asp532Glu(p.D532E) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 11 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48468487:48468487(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.4507G>A |
| AA Mutation | p.Val1503Ile(p.V1503I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 12 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48412723:48412723(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.8072G>A |
| AA Mutation | p.Gly2691Asp(p.G2691D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 13 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000316623 |
| Start | 48472624:48472624(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4263C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 14 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000316623 |
| Start | 48427591:48427591(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs397515848 |
| CDS Mutation | c.7180C>T |
| AA Mutation | p.Arg2394Ter(p.R2394*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 15 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000316623 |
| Start | 48487192:48487192(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.3472G>T |
| AA Mutation | p.Glu1158Ter(p.E1158*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 16 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000316623 |
| Start | 48444559:48444559(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.6019C>T |
| AA Mutation | p.Gln2007Ter(p.Q2007*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |