Primary Site >> Stomach Cancer
Gene >> BBS9
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000242067 |
| Start | 33505620:33505620(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs757754301 |
| CDS Mutation | c.2273C>T |
| AA Mutation | p.Pro758Leu(p.P758L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000242067 |
| Start | 33388097:33388097(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2068G>A |
| AA Mutation | p.Ala690Thr(p.A690T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000242067 |
| Start | 33388098:33388098(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2069C>T |
| AA Mutation | p.Ala690Val(p.A690V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000242067 |
| Start | 33357981:33357981(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1679T>G |
| AA Mutation | p.Leu560Arg(p.L560R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000242067 |
| Start | 33505530:33505530(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2183A>C |
| AA Mutation | p.Lys728Thr(p.K728T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000242067 |
| Start | 33344584:33344584(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1279G>C |
| AA Mutation | p.Ala427Pro(p.A427P) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000242067 |
| Start | 33351224:33351224(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1438G>A |
| AA Mutation | p.Asp480Asn(p.D480N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 8 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000242067 |
| Start | 33264298:33264298(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.626T>C |
| AA Mutation | p.Val209Ala(p.V209A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 9 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000242067 |
| Start | 33273079:33273079(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.770C>T |
| AA Mutation | p.Ala257Val(p.A257V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 10 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000242067 |
| Start | 33533976:33533976(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2321C>T |
| AA Mutation | p.Ala774Val(p.A774V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 11 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000242067 |
| Start | 33534109:33534109(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2454A>T |
| AA Mutation | p.Arg818Ser(p.R818S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 12 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000242067 |
| Start | 33273118:33273118(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.809G>T |
| AA Mutation | p.Cys270Phe(p.C270F) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 13 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000242067 |
| Start | 33387996:33387996(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs531788298 |
| CDS Mutation | c.1967G>A |
| AA Mutation | p.Arg656Gln(p.R656Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 14 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000242067 |
| Start | 33336545:33336545(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs758120778 |
| CDS Mutation | c.1121G>T |
| AA Mutation | p.Arg374Leu(p.R374L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 15 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000242067 |
| Start | 33177515:33177515(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.366G>C |
| AA Mutation | p.Gln122His(p.Q122H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 16 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000242067 |
| Start | 33604914:33604914(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2571A>C |
| AA Mutation | p.Glu857Asp(p.E857D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 17 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000242067 |
| Start | 33349113:33349113(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1375G>A |
| AA Mutation | p.Val459Ile(p.V459I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 18 |
| Mutation Consequence | missense_variant;splice_region_variant |
| Transcription ID | ENST00000242067 |
| Start | 33264291:33264291(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.619T>C |
| AA Mutation | p.Tyr207His(p.Y207H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 19 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000242067 |
| Start | 33357928:33357928(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1626A>T |
| AA Mutation | p.Lys542Asn(p.K542N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 20 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000242067 |
| Start | 33257336:33257336(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.543T>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 21 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000242067 |
| Start | 33264360:33264360(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.688G>T |
| AA Mutation | p.Gly230Ter(p.G230*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 22 |
| Mutation Consequence | splice_donor_variant |
| Transcription ID | ENST00000242067 |
| Start | 33155703:33155703(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.328+1G>A |
| Mutation Classification | Splice_Site |
| Feature Type | Transcript |
| ID | 23 |
| Mutation Consequence | splice_donor_variant |
| Transcription ID | ENST00000242067 |
| Start | 33152852:33152852(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs137962929 |
| CDS Mutation | c.263+1G>A |
| Mutation Classification | Splice_Site |
| Feature Type | Transcript |