Primary Site >> Stomach Cancer
Gene >> RYR3
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33632972:33632972(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2891A>G |
| AA Mutation | p.Lys964Arg(p.K964R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33636517:33636517(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3523G>A |
| AA Mutation | p.Glu1175Lys(p.E1175K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33562869:33562869(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1005G>T |
| AA Mutation | p.Lys335Asn(p.K335N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33566765:33566765(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs772848050 |
| CDS Mutation | c.1234C>T |
| AA Mutation | p.Arg412Trp(p.R412W) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33646465:33646465(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.3880G>A |
| AA Mutation | p.Val1294Ile(p.V1294I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33826260:33826260(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.11155C>T |
| AA Mutation | p.Arg3719Trp(p.R3719W) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33831030:33831030(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.11402A>T |
| AA Mutation | p.Asn3801Ile(p.N3801I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 8 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33757479:33757479(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.8588T>C |
| AA Mutation | p.Leu2863Pro(p.L2863P) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 9 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33780224:33780224(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9151C>T |
| AA Mutation | p.Leu3051Phe(p.L3051F) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 10 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33540830:33540830(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.586T>C |
| AA Mutation | p.Ser196Pro(p.S196P) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 11 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33581542:33581542(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs747970625 |
| CDS Mutation | c.1472G>A |
| AA Mutation | p.Arg491His(p.R491H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 12 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33722765:33722765(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.6670C>T |
| AA Mutation | p.Arg2224Cys(p.R2224C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 13 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33644353:33644353(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs377298605 |
| CDS Mutation | c.3599G>A |
| AA Mutation | p.Arg1200His(p.R1200H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 14 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33821360:33821360(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs758369363 |
| CDS Mutation | c.10906G>A |
| AA Mutation | p.Ala3636Thr(p.A3636T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 15 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33853077:33853077(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.13661T>C |
| AA Mutation | p.Val4554Ala(p.V4554A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 16 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33539436:33539436(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs757325144 |
| CDS Mutation | c.520G>A |
| AA Mutation | p.Val174Ile(p.V174I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 17 |
| Mutation Consequence | missense_variant;splice_region_variant |
| Transcription ID | ENST00000389232 |
| Start | 33613183:33613183(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2165G>A |
| AA Mutation | p.Gly722Asp(p.G722D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 18 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33628547:33628547(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2651A>C |
| AA Mutation | p.Lys884Thr(p.K884T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 19 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33780255:33780255(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9182C>T |
| AA Mutation | p.Ala3061Val(p.A3061V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 20 |
| Mutation Consequence | missense_variant;splice_region_variant |
| Transcription ID | ENST00000389232 |
| Start | 33820810:33820810(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs369689229 |
| CDS Mutation | c.10813G>A |
| AA Mutation | p.Glu3605Lys(p.E3605K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 21 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33837936:33837936(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs182054475 |
| CDS Mutation | c.11956C>T |
| AA Mutation | p.Pro3986Ser(p.P3986S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 22 |
| Mutation Consequence | missense_variant;splice_region_variant |
| Transcription ID | ENST00000389232 |
| Start | 33788218:33788218(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.9590T>C |
| AA Mutation | p.Val3197Ala(p.V3197A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 23 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33473504:33473504(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs774050928 |
| CDS Mutation | c.137G>A |
| AA Mutation | p.Arg46His(p.R46H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 24 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33818651:33818651(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.10673T>C |
| AA Mutation | p.Leu3558Pro(p.L3558P) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 25 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33473446:33473446(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs201612485 |
| CDS Mutation | c.79G>A |
| AA Mutation | p.Ala27Thr(p.A27T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 26 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33562916:33562916(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1052C>A |
| AA Mutation | p.Ser351Tyr(p.S351Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 27 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33652846:33652846(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4271T>C |
| AA Mutation | p.Phe1424Ser(p.F1424S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 28 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33837928:33837928(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.11948T>G |
| AA Mutation | p.Phe3983Cys(p.F3983C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 29 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33757593:33757593(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.8702C>T |
| AA Mutation | p.Ala2901Val(p.A2901V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 30 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33603164:33603164(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1964C>T |
| AA Mutation | p.Ala655Val(p.A655V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 31 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33707048:33707048(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.6613G>A |
| AA Mutation | p.Val2205Met(p.V2205M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 32 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33738547:33738547(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs576237958 |
| CDS Mutation | c.7613C>T |
| AA Mutation | p.Thr2538Met(p.T2538M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 33 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33584409:33584409(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs370528698 |
| CDS Mutation | c.1588G>A |
| AA Mutation | p.Gly530Arg(p.G530R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 34 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33757578:33757578(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.8687A>C |
| AA Mutation | p.Glu2896Ala(p.E2896A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 35 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33644386:33644386(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3632A>G |
| AA Mutation | p.Lys1211Arg(p.K1211R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 36 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33838186:33838186(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.12206T>C |
| AA Mutation | p.Ile4069Thr(p.I4069T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 37 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33748220:33748220(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.8096G>A |
| AA Mutation | p.Arg2699Gln(p.R2699Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 38 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33662230:33662230(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs375544562 |
| CDS Mutation | c.4700C>T |
| AA Mutation | p.Ala1567Val(p.A1567V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 39 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33837997:33837997(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.12017C>A |
| AA Mutation | p.Pro4006Gln(p.P4006Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 40 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33649091:33649091(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3998G>T |
| AA Mutation | p.Arg1333Leu(p.R1333L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 41 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33748186:33748186(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.8062A>G |
| AA Mutation | p.Arg2688Gly(p.R2688G) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 42 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33662739:33662739(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs561525049 |
| CDS Mutation | c.5209G>A |
| AA Mutation | p.Val1737Met(p.V1737M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 43 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33603128:33603128(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs371008189 |
| CDS Mutation | c.1928G>A |
| AA Mutation | p.Arg643Gln(p.R643Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 44 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33539442:33539442(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs377624442 |
| CDS Mutation | c.526G>A |
| AA Mutation | p.Val176Met(p.V176M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 45 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33780306:33780306(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9233C>T |
| AA Mutation | p.Ser3078Leu(p.S3078L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 46 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33810554:33810554(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs761453884 |
| CDS Mutation | c.10102G>A |
| AA Mutation | p.Val3368Met(p.V3368M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 47 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33838386:33838386(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.12406C>G |
| AA Mutation | p.Leu4136Val(p.L4136V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 48 |
| Mutation Consequence | missense_variant;splice_region_variant |
| Transcription ID | ENST00000389232 |
| Start | 33503631:33503631(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.172T>C |
| AA Mutation | p.Tyr58His(p.Y58H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 49 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33857795:33857795(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs767925030 |
| CDS Mutation | c.14023G>A |
| AA Mutation | p.Gly4675Ser(p.G4675S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 50 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33749994:33749994(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs533878383 |
| CDS Mutation | c.8215G>A |
| AA Mutation | p.Val2739Met(p.V2739M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 51 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33785973:33785973(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs750373665 |
| CDS Mutation | c.9580C>T |
| AA Mutation | p.Arg3194Cys(p.R3194C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 52 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33813524:33813524(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.10447C>T |
| AA Mutation | p.Arg3483Trp(p.R3483W) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 53 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33311074:33311074(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.29A>T |
| AA Mutation | p.Asp10Val(p.D10V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 54 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33697888:33697888(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.6141A>G |
| AA Mutation | p.Ile2047Met(p.I2047M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 55 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33646372:33646372(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs746969131 |
| CDS Mutation | c.3787A>G |
| AA Mutation | p.Met1263Val(p.M1263V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 56 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33722735:33722735(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs778948074 |
| CDS Mutation | c.6640G>A |
| AA Mutation | p.Ala2214Thr(p.A2214T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 57 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33736249:33736249(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7439C>T |
| AA Mutation | p.Ser2480Phe(p.S2480F) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 58 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33788290:33788290(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.9662A>C |
| AA Mutation | p.Lys3221Thr(p.K3221T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 59 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33838473:33838473(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.12493C>A |
| AA Mutation | p.Leu4165Ile(p.L4165I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 60 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33857898:33857898(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.14126G>A |
| AA Mutation | p.Cys4709Tyr(p.C4709Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 61 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33633023:33633023(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2942T>G |
| AA Mutation | p.Ile981Ser(p.I981S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 62 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33662463:33662463(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4933G>T |
| AA Mutation | p.Asp1645Tyr(p.D1645Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 63 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33543649:33543649(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs370938489 |
| CDS Mutation | c.674G>A |
| AA Mutation | p.Arg225His(p.R225H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 64 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33780291:33780291(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs759949044 |
| CDS Mutation | c.9218G>A |
| AA Mutation | p.Arg3073His(p.R3073H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 65 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33837964:33837964(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.11984C>T |
| AA Mutation | p.Ala3995Val(p.A3995V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 66 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389232 |
| Start | 33841952:33841952(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs753219318 |
| CDS Mutation | c.13126C>T |
| AA Mutation | p.Arg4376Trp(p.R4376W) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 67 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389232 |
| Start | 33581516:33581516(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1446G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 68 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389232 |
| Start | 33562983:33562983(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1119T>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 69 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389232 |
| Start | 33562983:33562983(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs760206490 |
| CDS Mutation | c.1119T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 70 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389232 |
| Start | 33636528:33636528(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3534C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 71 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389232 |
| Start | 33738548:33738548(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs371646758 |
| CDS Mutation | c.7614G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 72 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389232 |
| Start | 33649158:33649158(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.4065C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 73 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389232 |
| Start | 33780244:33780244(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs745552650 |
| CDS Mutation | c.9171G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 74 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389232 |
| Start | 33635741:33635741(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs752550511 |
| CDS Mutation | c.3303C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 75 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389232 |
| Start | 33728936:33728936(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs751258576 |
| CDS Mutation | c.7113C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 76 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389232 |
| Start | 33848407:33848407(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.13614G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 77 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389232 |
| Start | 33662255:33662255(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs753112136 |
| CDS Mutation | c.4725C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 78 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389232 |
| Start | 33613337:33613337(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs771688205 |
| CDS Mutation | c.2319G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 79 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389232 |
| Start | 33649206:33649206(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs751733819 |
| CDS Mutation | c.4113A>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 80 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389232 |
| Start | 33857899:33857899(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs374117753 |
| CDS Mutation | c.14127C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 81 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389232 |
| Start | 33701050:33701050(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs770216543 |
| CDS Mutation | c.6453G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 82 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389232 |
| Start | 33581640:33581640(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1570C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 83 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389232 |
| Start | 33696393:33696393(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.6036C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 84 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389232 |
| Start | 33853581:33853581(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs368476028 |
| CDS Mutation | c.13698C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 85 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389232 |
| Start | 33646401:33646401(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs770156777 |
| CDS Mutation | c.3816G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 86 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389232 |
| Start | 33739945:33739945(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7770C>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 87 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389232 |
| Start | 33810604:33810604(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs755255789 |
| CDS Mutation | c.10152A>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 88 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389232 |
| Start | 33810517:33810517(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.10065G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 89 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389232 |
| Start | 33562983:33562983(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1119T>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 90 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389232 |
| Start | 33788252:33788252(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs569095648 |
| CDS Mutation | c.9624C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 91 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389232 |
| Start | 33562929:33562929(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1065G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 92 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389232 |
| Start | 33831013:33831013(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.11385T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 93 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000389232 |
| Start | 33853618:33853618(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.13739delA |
| AA Mutation | p.Asn4580MetfsTer8(p.N4580Mfs*8) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 94 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000389232 |
| Start | 33579996:33579996(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.1293delC |
| AA Mutation | p.Ile432SerfsTer5(p.I432Sfs*5) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 95 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000389232 |
| Start | 33601530:33601530(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs780640652 |
| CDS Mutation | c.1900C>T |
| AA Mutation | p.Arg634Ter(p.R634*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 96 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000389232 |
| Start | 33550197:33550197(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs769820824 |
| CDS Mutation | c.853C>T |
| AA Mutation | p.Arg285Ter(p.R285*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 97 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000389232 |
| Start | 33772041:33772041(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.8938C>T |
| AA Mutation | p.Arg2980Ter(p.R2980*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 98 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000389232 |
| Start | 33706976:33706976(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.6541G>T |
| AA Mutation | p.Gly2181Ter(p.G2181*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 99 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000389232 |
| Start | 33623867:33623867(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2418T>G |
| AA Mutation | p.Tyr806Ter(p.Y806*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 100 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000389232 |
| Start | 33821365:33821366(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.10914dupA |
| AA Mutation | p.Gly3639ArgfsTer2(p.G3639Rfs*2) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 101 |
| Mutation Consequence | splice_donor_variant |
| Transcription ID | ENST00000389232 |
| Start | 33854450:33854450(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.13860+1G>A |
| Mutation Classification | Splice_Site |
| Feature Type | Transcript |
| ID | 102 |
| Mutation Consequence | splice_donor_variant |
| Transcription ID | ENST00000389232 |
| Start | 33836989:33836989(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.11650+2T>C |
| Mutation Classification | Splice_Site |
| Feature Type | Transcript |
| ID | 103 |
| Mutation Consequence | inframe_insertion |
| Transcription ID | ENST00000389232 |
| Start | 33662743:33662744(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | rs764080788 |
| CDS Mutation | c.5225_5227dupATG |
| AA Mutation | p.Asp1742dup(p.D1742dup) |
| Mutation Classification | In_Frame_Ins |
| Feature Type | Transcript |