Primary Site >> Pancreatic Cancer
Gene >> COL1A1
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000225964 |
| Start | 50196180:50196180(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs72645356 |
| CDS Mutation | c.977G>A |
| AA Mutation | p.Gly326Asp(p.G326D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000225964 |
| Start | 50186684:50186684(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs775462973 |
| CDS Mutation | c.3770G>A |
| AA Mutation | p.Arg1257His(p.R1257H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant;splice_region_variant |
| Transcription ID | ENST00000225964 |
| Start | 50196527:50196527(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.860G>A |
| AA Mutation | p.Gly287Asp(p.G287D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000225964 |
| Start | 50186455:50186455(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.3867C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | stop_gained;frameshift_variant;splice_region_variant |
| Transcription ID | ENST00000225964 |
| Start | 50194828:50194829(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.1354-1_1354insCAAAGGAGACACTGGTGCTAAGGGAGAGCCT |
| AA Mutation | p.Gly452GlnfsTer7(p.G452Qfs*7) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | frameshift_variant;splice_region_variant |
| Transcription ID | ENST00000225964 |
| Start | 50190380:50190381(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.2398-1_2398insCTCGTGGTGCCCCC |
| AA Mutation | p.Gly800LeufsTer313(p.G800Lfs*313) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | frameshift_variant;splice_region_variant |
| Transcription ID | ENST00000225964 |
| Start | 50198002:50198003(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.589-1_589insTCCTCGTGGTCTCCCTGGCCCCCCTGGTGCACCT |
| AA Mutation | p.Gly197SerfsTer22(p.G197Sfs*22) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 8 |
| Mutation Consequence | splice_acceptor_variant;splice_donor_variant;coding_sequence_variant;intron_variant |
| Transcription ID | ENST00000225964 |
| Start | 50195100:50195230(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.1300_1299+2delTGAGTACCAAACTCTCCCTTCTGCCCACCCCATGCACTGGCTCCAGTGCGGCTCTCATCTGGGGAGCAGGAAGACGCAGGCCAACTGAGCGCCCCCGACTCTCAGCTCATCCTCTTCTCCCCCCTTGCAGG |
| Mutation Classification | Splice_Site |
| Feature Type | Transcript |
| ID | 9 |
| Mutation Consequence | splice_acceptor_variant;splice_donor_variant;coding_sequence_variant;intron_variant |
| Transcription ID | ENST00000225964 |
| Start | 50195478:50195565(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.1156_1155+2delTAAGTGTCCCCGACTCAGTGTCCCCTTTGCCACTTTCTAACCTCAGAGTCCTTGCCTGTTGCTGACACTCCTTTCTCTGTGCCACAGG |
| Mutation Classification | Splice_Site |
| Feature Type | Transcript |
| ID | 10 |
| Mutation Consequence | inframe_deletion |
| Transcription ID | ENST00000225964 |
| Start | 50189684:50189701(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.2645_2662delGAGTCGGTCCTCCTGGCC |
| AA Mutation | p.Arg882_Gly887del(p.R882_G887del) |
| Mutation Classification | In_Frame_Del |
| Feature Type | Transcript |
| ID | 11 |
| Mutation Consequence | inframe_insertion;splice_region_variant |
| Transcription ID | ENST00000225964 |
| Start | 50188149:50188150(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.3208-1_3208insACT |
| AA Mutation | p.Thr1069dup(p.T1069dup) |
| Mutation Classification | In_Frame_Ins |
| Feature Type | Transcript |