Primary Site >> Stomach Cancer
Gene >> MMEL1
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000378412 |
| Start | 2591624:2591624(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs750186428 |
| CDS Mutation | c.2173G>A |
| AA Mutation | p.Gly725Arg(p.G725R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant;splice_region_variant |
| Transcription ID | ENST00000378412 |
| Start | 2595358:2595358(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1502C>T |
| AA Mutation | p.Ala501Val(p.A501V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000378412 |
| Start | 2609748:2609748(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.376C>T |
| AA Mutation | p.Arg126Cys(p.R126C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000378412 |
| Start | 2592668:2592668(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs146100312 |
| CDS Mutation | c.2054G>A |
| AA Mutation | p.Arg685Gln(p.R685Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000378412 |
| Start | 2596586:2596586(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs756530819 |
| CDS Mutation | c.1376C>T |
| AA Mutation | p.Ala459Val(p.A459V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000378412 |
| Start | 2596064:2596064(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs777138823 |
| CDS Mutation | c.1445C>T |
| AA Mutation | p.Thr482Met(p.T482M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000378412 |
| Start | 2594832:2594832(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1646A>T |
| AA Mutation | p.Gln549Leu(p.Q549L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 8 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000378412 |
| Start | 2596083:2596083(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1426C>T |
| AA Mutation | p.Arg476Trp(p.R476W) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 9 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000378412 |
| Start | 2598279:2598279(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1200C>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 10 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000378412 |
| Start | 2591007:2591007(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs751727727 |
| CDS Mutation | c.2323C>T |
| AA Mutation | p.Arg775Ter(p.R775*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |