Primary Site >> Stomach Cancer
Gene >> SYNE2
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 63942103:63942103(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.368T>G |
| AA Mutation | p.Ile123Ser(p.I123S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64053437:64053437(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9524C>A |
| AA Mutation | p.Pro3175Gln(p.P3175Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64052881:64052881(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs748085293 |
| CDS Mutation | c.8968G>A |
| AA Mutation | p.Ala2990Thr(p.A2990T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64051995:64051995(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.8082G>C |
| AA Mutation | p.Trp2694Cys(p.W2694C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 63949975:63949975(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.559C>A |
| AA Mutation | p.Leu187Ile(p.L187I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64165319:64165319(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs552897930 |
| CDS Mutation | c.16514G>A |
| AA Mutation | p.Arg5505Gln(p.R5505Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64003123:64003123(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.4190C>A |
| AA Mutation | p.Thr1397Asn(p.T1397N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 8 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 63982695:63982695(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1902C>G |
| AA Mutation | p.Phe634Leu(p.F634L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 9 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64225491:64225491(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.20623A>G |
| AA Mutation | p.Met6875Val(p.M6875V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 10 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64053542:64053542(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9629C>T |
| AA Mutation | p.Thr3210Ile(p.T3210I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 11 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64214410:64214410(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs759714086 |
| CDS Mutation | c.19273G>A |
| AA Mutation | p.Val6425Met(p.V6425M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 12 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 63941958:63941958(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs767367300 |
| CDS Mutation | c.311G>A |
| AA Mutation | p.Arg104Gln(p.R104Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 13 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 63986545:63986545(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2241A>C |
| AA Mutation | p.Glu747Asp(p.E747D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 14 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 63993944:63993944(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2756G>A |
| AA Mutation | p.Ser919Asn(p.S919N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 15 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64007094:64007094(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4449G>T |
| AA Mutation | p.Glu1483Asp(p.E1483D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 16 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64122064:64122064(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.13211T>G |
| AA Mutation | p.Phe4404Cys(p.F4404C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 17 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64224513:64224513(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.20366C>A |
| AA Mutation | p.Pro6789His(p.P6789H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 18 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64141482:64141482(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.15118C>T |
| AA Mutation | p.Leu5040Phe(p.L5040F) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 19 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64093379:64093379(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.12007G>A |
| AA Mutation | p.Glu4003Lys(p.E4003K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 20 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64048024:64048024(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7246T>C |
| AA Mutation | p.Ser2416Pro(p.S2416P) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 21 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64186508:64186508(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.17641G>A |
| AA Mutation | p.Val5881Met(p.V5881M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 22 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64223217:64223217(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.20150A>G |
| AA Mutation | p.Gln6717Arg(p.Q6717R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 23 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 63990967:63990967(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs200503488 |
| CDS Mutation | c.2498C>T |
| AA Mutation | p.Ala833Val(p.A833V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 24 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 63976593:63976593(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1159G>A |
| AA Mutation | p.Ala387Thr(p.A387T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 25 |
| Mutation Consequence | missense_variant;splice_region_variant |
| Transcription ID | ENST00000344113 |
| Start | 64130049:64130049(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.14141A>G |
| AA Mutation | p.Asp4714Gly(p.D4714G) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 26 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64089604:64089604(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.11701T>G |
| AA Mutation | p.Ser3901Ala(p.S3901A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 27 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64214456:64214456(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.19319A>G |
| AA Mutation | p.Tyr6440Cys(p.Y6440C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 28 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64186502:64186502(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs555731479 |
| CDS Mutation | c.17635G>A |
| AA Mutation | p.Val5879Ile(p.V5879I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 29 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64102028:64102028(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.12478G>A |
| AA Mutation | p.Gly4160Arg(p.G4160R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 30 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64168933:64168933(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.16962G>T |
| AA Mutation | p.Gln5654His(p.Q5654H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 31 |
| Mutation Consequence | missense_variant;splice_region_variant |
| Transcription ID | ENST00000344113 |
| Start | 64170460:64170460(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.17233A>C |
| AA Mutation | p.Lys5745Gln(p.K5745Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 32 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64017718:64017718(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.5011T>A |
| AA Mutation | p.Leu1671Ile(p.L1671I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 33 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 63963983:63963983(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.973T>C |
| AA Mutation | p.Tyr325His(p.Y325H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 34 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64177398:64177398(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.17471G>T |
| AA Mutation | p.Ser5824Ile(p.S5824I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 35 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64052804:64052804(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs769752828 |
| CDS Mutation | c.8891G>A |
| AA Mutation | p.Arg2964His(p.R2964H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 36 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64170431:64170431(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.17204A>G |
| AA Mutation | p.Tyr5735Cys(p.Y5735C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 37 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64137860:64137860(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs144804554 |
| CDS Mutation | c.14720C>T |
| AA Mutation | p.Ala4907Val(p.A4907V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 38 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64163510:64163510(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.16408G>T |
| AA Mutation | p.Gly5470Cys(p.G5470C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 39 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64223306:64223306(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.20239C>T |
| AA Mutation | p.His6747Tyr(p.H6747Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 40 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64000652:64000652(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3571T>G |
| AA Mutation | p.Phe1191Val(p.F1191V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 41 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64051888:64051888(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs771756508 |
| CDS Mutation | c.7975C>T |
| AA Mutation | p.Arg2659Trp(p.R2659W) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 42 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64052201:64052201(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.8288C>T |
| AA Mutation | p.Ser2763Leu(p.S2763L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 43 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 63961620:63961620(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.883G>T |
| AA Mutation | p.Ala295Ser(p.A295S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 44 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64125131:64125131(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.13475A>G |
| AA Mutation | p.Tyr4492Cys(p.Y4492C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 45 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64125094:64125094(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.13438G>C |
| AA Mutation | p.Gly4480Arg(p.G4480R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 46 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 63999027:63999027(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3467T>C |
| AA Mutation | p.Leu1156Pro(p.L1156P) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 47 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64177451:64177451(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs769564739 |
| CDS Mutation | c.17524G>A |
| AA Mutation | p.Glu5842Lys(p.E5842K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 48 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64225360:64225360(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.20492G>A |
| AA Mutation | p.Arg6831Lys(p.R6831K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 49 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64221652:64221652(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs755659380 |
| CDS Mutation | c.20069C>T |
| AA Mutation | p.Thr6690Ile(p.T6690I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 50 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64053134:64053134(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9221A>G |
| AA Mutation | p.Asp3074Gly(p.D3074G) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 51 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64051687:64051687(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.7774G>A |
| AA Mutation | p.Asp2592Asn(p.D2592N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 52 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64209444:64209444(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs202238995 |
| CDS Mutation | c.18406C>T |
| AA Mutation | p.Arg6136Cys(p.R6136C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 53 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 64212087:64212087(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs780352939 |
| CDS Mutation | c.18850C>T |
| AA Mutation | p.Arg6284Cys(p.R6284C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 54 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000344113 |
| Start | 63981096:63981096(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1759T>C |
| AA Mutation | p.Cys587Arg(p.C587R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 55 |
| Mutation Consequence | missense_variant;splice_region_variant |
| Transcription ID | ENST00000344113 |
| Start | 64062894:64062894(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.10211A>C |
| AA Mutation | p.Lys3404Thr(p.K3404T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 56 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000344113 |
| Start | 64003202:64003202(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4269T>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 57 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000344113 |
| Start | 64167591:64167591(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs370160896 |
| CDS Mutation | c.16857T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 58 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000344113 |
| Start | 64055997:64055997(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9798C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 59 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000344113 |
| Start | 64129802:64129802(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.14040G>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 60 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000344113 |
| Start | 64162258:64162258(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.16281A>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 61 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000344113 |
| Start | 64016547:64016547(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.4803A>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 62 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000344113 |
| Start | 64163512:64163512(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs200393620 |
| CDS Mutation | c.16410C>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 63 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000344113 |
| Start | 64051617:64051617(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7704A>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 64 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000344113 |
| Start | 64163509:64163509(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs755327532 |
| CDS Mutation | c.16407G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 65 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000344113 |
| Start | 64053573:64053573(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.9660T>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 66 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000344113 |
| Start | 64208880:64208880(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.18324G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 67 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000344113 |
| Start | 63909202:63909202(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs372179532 |
| CDS Mutation | c.54C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 68 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000344113 |
| Start | 64052316:64052316(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs189676726 |
| CDS Mutation | c.8403C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 69 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000344113 |
| Start | 64225515:64225515(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.20652delC |
| AA Mutation | p.Thr6885HisfsTer29(p.T6885Hfs*29) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 70 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000344113 |
| Start | 64052427:64052427(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.8520delT |
| AA Mutation | p.Phe2840LeufsTer3(p.F2840Lfs*3) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 71 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000344113 |
| Start | 64017669:64017669(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.4967delA |
| AA Mutation | p.Asn1656MetfsTer19(p.N1656Mfs*19) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 72 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000344113 |
| Start | 64027719:64027719(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.6644delA |
| AA Mutation | p.Asn2215IlefsTer12(p.N2215Ifs*12) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 73 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000344113 |
| Start | 64218427:64218443(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.19503_19519delTGGTGGCAAAGAAGGCC |
| AA Mutation | p.Gly6502AlafsTer39(p.G6502Afs*39) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 74 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000344113 |
| Start | 63983760:63983760(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.2031delA |
| AA Mutation | p.Lys677AsnfsTer30(p.K677Nfs*30) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 75 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000344113 |
| Start | 64052917:64052917(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.9009delA |
| AA Mutation | p.Val3004CysfsTer7(p.V3004Cfs*7) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 76 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000344113 |
| Start | 64021986:64021986(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.5488delA |
| AA Mutation | p.Ser1830ValfsTer11(p.S1830Vfs*11) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 77 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000344113 |
| Start | 64000689:64000690(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.3609_3610delAA |
| AA Mutation | p.Glu1205AlafsTer6(p.E1205Afs*6) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 78 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000344113 |
| Start | 64214382:64214382(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.19249delC |
| AA Mutation | p.Leu6417TrpfsTer94(p.L6417Wfs*94) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 79 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000344113 |
| Start | 64020021:64020022(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.5079_5080delTT |
| AA Mutation | p.Ser1694ArgfsTer4(p.S1694Rfs*4) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 80 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000344113 |
| Start | 63941737:63941737(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.188delA |
| AA Mutation | p.Lys63ArgfsTer9(p.K63Rfs*9) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 81 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000344113 |
| Start | 64140067:64140067(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.14976delT |
| AA Mutation | p.Phe4992LeufsTer13(p.F4992Lfs*13) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 82 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000344113 |
| Start | 64188608:64188608(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.17777delA |
| AA Mutation | p.Asn5926IlefsTer26(p.N5926Ifs*26) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 83 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000344113 |
| Start | 64052762:64052762(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.8854delA |
| AA Mutation | p.Thr2952HisfsTer22(p.T2952Hfs*22) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 84 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000344113 |
| Start | 64053170:64053170(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | rs766164016 |
| CDS Mutation | c.9260delT |
| AA Mutation | p.Leu3087Ter(p.L3087*) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 85 |
| Mutation Consequence | stop_gained;frameshift_variant |
| Transcription ID | ENST00000344113 |
| Start | 64002843:64002844(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.3911_3912insAAGATAA |
| AA Mutation | p.Tyr1304Ter(p.Y1304*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 86 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000344113 |
| Start | 64002845:64002845(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.3912C>G |
| AA Mutation | p.Tyr1304Ter(p.Y1304*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 87 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000344113 |
| Start | 64024390:64024390(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.5771T>A |
| AA Mutation | p.Leu1924Ter(p.L1924*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 88 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000344113 |
| Start | 64076005:64076005(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs367711497 |
| CDS Mutation | c.10927C>T |
| AA Mutation | p.Arg3643Ter(p.R3643*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 89 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000344113 |
| Start | 64056091:64056091(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9892C>T |
| AA Mutation | p.Arg3298Ter(p.R3298*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 90 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000344113 |
| Start | 64209981:64209981(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.18580G>T |
| AA Mutation | p.Glu6194Ter(p.E6194*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 91 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000344113 |
| Start | 64051996:64051996(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.8083G>T |
| AA Mutation | p.Gly2695Ter(p.G2695*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 92 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000344113 |
| Start | 64121038:64121039(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.13140dupA |
| AA Mutation | p.Asp4381ArgfsTer25(p.D4381Rfs*25) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 93 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000344113 |
| Start | 64087812:64087813(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | null |
| CDS Mutation | c.11632dupA |
| AA Mutation | p.Ile3878AsnfsTer13(p.I3878Nfs*13) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 94 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000344113 |
| Start | 64162252:64162253(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | rs755761382 |
| CDS Mutation | c.16280dupC |
| AA Mutation | p.Ala5428SerfsTer11(p.A5428Sfs*11) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 95 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000344113 |
| Start | 64141362:64141363(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.15003dupA |
| AA Mutation | p.Ser5002IlefsTer21(p.S5002Ifs*21) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |