Primary Site >> Stomach Cancer
Gene >> COL6A3
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237340485:237340485(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs371361651 |
| CDS Mutation | c.8431C>T |
| AA Mutation | p.Arg2811Cys(p.R2811C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237381020:237381020(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs778400474 |
| CDS Mutation | c.1792G>A |
| AA Mutation | p.Asp598Asn(p.D598N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237381254:237381254(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs776270797 |
| CDS Mutation | c.1558G>A |
| AA Mutation | p.Gly520Ser(p.G520S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237340458:237340458(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs115171119 |
| CDS Mutation | c.8458G>A |
| AA Mutation | p.Val2820Ile(p.V2820I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237368784:237368784(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4679C>A |
| AA Mutation | p.Ala1560Asp(p.A1560D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237344826:237344826(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs375640580 |
| CDS Mutation | c.7192G>A |
| AA Mutation | p.Val2398Ile(p.V2398I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237365792:237365792(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs374825188 |
| CDS Mutation | c.5744G>A |
| AA Mutation | p.Arg1915Gln(p.R1915Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 8 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237341073:237341073(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs145884404 |
| CDS Mutation | c.7843G>A |
| AA Mutation | p.Asp2615Asn(p.D2615N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 9 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237388057:237388057(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.837C>G |
| AA Mutation | p.Ile279Met(p.I279M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 10 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237324809:237324809(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs537511128 |
| CDS Mutation | c.9499G>A |
| AA Mutation | p.Ala3167Thr(p.A3167T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 11 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237369096:237369096(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4367G>A |
| AA Mutation | p.Arg1456Gln(p.R1456Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 12 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237367135:237367135(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.5052C>A |
| AA Mutation | p.Asn1684Lys(p.N1684K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 13 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237378912:237378912(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2221G>A |
| AA Mutation | p.Glu741Lys(p.E741K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 14 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237381299:237381299(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1513A>C |
| AA Mutation | p.Lys505Gln(p.K505Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 15 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237394693:237394693(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs540844413 |
| CDS Mutation | c.603G>T |
| AA Mutation | p.Glu201Asp(p.E201D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 16 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237340758:237340758(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs368129741 |
| CDS Mutation | c.8158G>A |
| AA Mutation | p.Glu2720Lys(p.E2720K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 17 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237340967:237340967(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7949A>T |
| AA Mutation | p.Asp2650Val(p.D2650V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 18 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237376972:237376972(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs116294003 |
| CDS Mutation | c.2870A>G |
| AA Mutation | p.Asp957Gly(p.D957G) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 19 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237394776:237394776(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.520G>A |
| AA Mutation | p.Ala174Thr(p.A174T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 20 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237368773:237368773(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs200825417 |
| CDS Mutation | c.4690C>T |
| AA Mutation | p.Arg1564Cys(p.R1564C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 21 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237381274:237381274(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs139498556 |
| CDS Mutation | c.1538G>A |
| AA Mutation | p.Arg513Gln(p.R513Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 22 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237378797:237378797(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2336G>T |
| AA Mutation | p.Ser779Ile(p.S779I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 23 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237365835:237365835(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.5701T>C |
| AA Mutation | p.Phe1901Leu(p.F1901L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 24 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237366796:237366796(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.5391C>G |
| AA Mutation | p.Phe1797Leu(p.F1797L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 25 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237376816:237376816(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.3026T>G |
| AA Mutation | p.Ile1009Arg(p.I1009R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 26 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237359217:237359217(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.6343G>A |
| AA Mutation | p.Asp2115Asn(p.D2115N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 27 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237340908:237340908(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs398124135 |
| CDS Mutation | c.8008G>A |
| AA Mutation | p.Ala2670Thr(p.A2670T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 28 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237372266:237372266(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs199646208 |
| CDS Mutation | c.3751G>A |
| AA Mutation | p.Val1251Ile(p.V1251I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 29 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237374873:237374873(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3218G>A |
| AA Mutation | p.Ser1073Asn(p.S1073N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 30 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237387873:237387873(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs758958868 |
| CDS Mutation | c.1021C>T |
| AA Mutation | p.Arg341Cys(p.R341C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 31 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237340907:237340907(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs142851023 |
| CDS Mutation | c.8009C>T |
| AA Mutation | p.Ala2670Val(p.A2670V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 32 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237344373:237344373(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs151079701 |
| CDS Mutation | c.7645C>T |
| AA Mutation | p.Arg2549Trp(p.R2549W) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 33 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237394745:237394745(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs774313593 |
| CDS Mutation | c.551C>T |
| AA Mutation | p.Ala184Val(p.A184V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 34 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237340857:237340857(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.8059T>G |
| AA Mutation | p.Phe2687Val(p.F2687V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 35 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237387887:237387887(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs745667305 |
| CDS Mutation | c.1007G>A |
| AA Mutation | p.Arg336Gln(p.R336Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 36 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237372180:237372180(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3837C>G |
| AA Mutation | p.Asp1279Glu(p.D1279E) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 37 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237376849:237376849(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs774161895 |
| CDS Mutation | c.2993C>T |
| AA Mutation | p.Ser998Leu(p.S998L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 38 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237336524:237336524(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.8576C>T |
| AA Mutation | p.Pro2859Leu(p.P2859L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 39 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237374438:237374438(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs75071027 |
| CDS Mutation | c.3653C>T |
| AA Mutation | p.Pro1218Leu(p.P1218L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 40 |
| Mutation Consequence | missense_variant;splice_region_variant |
| Transcription ID | ENST00000295550 |
| Start | 237353402:237353402(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.6629G>A |
| AA Mutation | p.Gly2210Asp(p.G2210D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 41 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237348654:237348654(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.6889G>A |
| AA Mutation | p.Gly2297Arg(p.G2297R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 42 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237378863:237378863(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs769363327 |
| CDS Mutation | c.2270A>T |
| AA Mutation | p.Asp757Val(p.D757V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 43 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237377075:237377075(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2767G>A |
| AA Mutation | p.Ala923Thr(p.A923T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 44 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000295550 |
| Start | 237395043:237395043(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs755587601 |
| CDS Mutation | c.253G>A |
| AA Mutation | p.Gly85Arg(p.G85R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 45 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000295550 |
| Start | 237374686:237374686(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3405G>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 46 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000295550 |
| Start | 237365824:237365824(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs151234107 |
| CDS Mutation | c.5712C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 47 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000295550 |
| Start | 237374821:237374821(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs113781746 |
| CDS Mutation | c.3270C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 48 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000295550 |
| Start | 237380961:237380961(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1851G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 49 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000295550 |
| Start | 237371940:237371940(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4077C>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 50 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000295550 |
| Start | 237372267:237372267(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs763648429 |
| CDS Mutation | c.3750C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 51 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000295550 |
| Start | 237376911:237376911(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs774059985 |
| CDS Mutation | c.2931C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 52 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000295550 |
| Start | 237368849:237368849(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs199759398 |
| CDS Mutation | c.4614C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 53 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000295550 |
| Start | 237351148:237351148(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs116541926 |
| CDS Mutation | c.6798C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 54 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000295550 |
| Start | 237368786:237368786(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs147215386 |
| CDS Mutation | c.4677C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 55 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000295550 |
| Start | 237365758:237365758(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs555406717 |
| CDS Mutation | c.5778G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 56 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000295550 |
| Start | 237372186:237372186(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs114110705 |
| CDS Mutation | c.3831C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 57 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000295550 |
| Start | 237395053:237395053(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.243C>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 58 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000295550 |
| Start | 237394609:237394609(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs772362589 |
| CDS Mutation | c.687G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 59 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000295550 |
| Start | 237360106:237360106(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.6264G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 60 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000295550 |
| Start | 237376794:237376794(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3048G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 61 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000295550 |
| Start | 237341098:237341098(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7818C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 62 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000295550 |
| Start | 237395191:237395191(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.105T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 63 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000295550 |
| Start | 237365845:237365845(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs762064645 |
| CDS Mutation | c.5691G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 64 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000295550 |
| Start | 237371862:237371862(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs761804539 |
| CDS Mutation | c.4155C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 65 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000295550 |
| Start | 237334843:237334843(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs199519571 |
| CDS Mutation | c.9012C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 66 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000295550 |
| Start | 237368930:237368930(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.4533delG |
| AA Mutation | p.Ser1512ProfsTer3(p.S1512Pfs*3) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 67 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000295550 |
| Start | 237333533:237333533(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.9245delC |
| AA Mutation | p.Pro3082HisfsTer16(p.P3082Hfs*16) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 68 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000295550 |
| Start | 237366876:237366876(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.5311delG |
| AA Mutation | p.Val1771SerfsTer8(p.V1771Sfs*8) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 69 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000295550 |
| Start | 237357843:237357843(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.6511G>T |
| AA Mutation | p.Gly2171Ter(p.G2171*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 70 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000295550 |
| Start | 237325717:237325717(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9336C>A |
| AA Mutation | p.Cys3112Ter(p.C3112*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 71 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000295550 |
| Start | 237371822:237371823(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.4194dupC |
| AA Mutation | p.Ser1399GlnfsTer33(p.S1399Qfs*33) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 72 |
| Mutation Consequence | splice_donor_variant |
| Transcription ID | ENST00000295550 |
| Start | 237345057:237345057(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs755754433 |
| CDS Mutation | c.7162+1G>A |
| Mutation Classification | Splice_Site |
| Feature Type | Transcript |