Primary Site >> Stomach Cancer
Gene >> RELN
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103500845:103500845(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.8567G>T |
| AA Mutation | p.Cys2856Phe(p.C2856F) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103498110:103498110(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs765433534 |
| CDS Mutation | c.8810C>T |
| AA Mutation | p.Ala2937Val(p.A2937V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103604374:103604374(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.3118C>T |
| AA Mutation | p.His1040Tyr(p.H1040Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103545214:103545214(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.6433G>A |
| AA Mutation | p.Gly2145Arg(p.G2145R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103557018:103557018(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.5756C>T |
| AA Mutation | p.Thr1919Ile(p.T1919I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103596541:103596541(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.3454G>A |
| AA Mutation | p.Gly1152Ser(p.G1152S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103535419:103535419(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.7246C>T |
| AA Mutation | p.Pro2416Ser(p.P2416S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 8 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103503217:103503217(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.8288G>A |
| AA Mutation | p.Cys2763Tyr(p.C2763Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 9 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103515191:103515191(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.8113A>C |
| AA Mutation | p.Thr2705Pro(p.T2705P) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 10 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103539225:103539225(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7033C>T |
| AA Mutation | p.Pro2345Ser(p.P2345S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 11 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103682251:103682251(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1154A>G |
| AA Mutation | p.Gln385Arg(p.Q385R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 12 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103515365:103515365(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs781392761 |
| CDS Mutation | c.7939G>A |
| AA Mutation | p.Gly2647Ser(p.G2647S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 13 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103523475:103523475(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7406C>T |
| AA Mutation | p.Thr2469Ile(p.T2469I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 14 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103652561:103652561(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1753C>T |
| AA Mutation | p.Pro585Ser(p.P585S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 15 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103472903:103472903(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.10292G>A |
| AA Mutation | p.Arg3431His(p.R3431H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 16 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103594413:103594413(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3619G>A |
| AA Mutation | p.Glu1207Lys(p.E1207K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 17 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103682123:103682123(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1282C>T |
| AA Mutation | p.Pro428Ser(p.P428S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 18 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103515395:103515395(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs587780438 |
| CDS Mutation | c.7909C>T |
| AA Mutation | p.Arg2637Cys(p.R2637C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 19 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103539293:103539293(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.6965T>G |
| AA Mutation | p.Val2322Gly(p.V2322G) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 20 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103565315:103565315(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.5173T>G |
| AA Mutation | p.Trp1725Gly(p.W1725G) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 21 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103636275:103636275(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2263C>T |
| AA Mutation | p.Arg755Cys(p.R755C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 22 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103503140:103503140(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.8365C>A |
| AA Mutation | p.Leu2789Met(p.L2789M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 23 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103483741:103483741(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs115035120 |
| CDS Mutation | c.10093G>A |
| AA Mutation | p.Val3365Ile(p.V3365I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 24 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103489879:103489879(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9626T>A |
| AA Mutation | p.Ile3209Asn(p.I3209N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 25 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103551102:103551102(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.6267G>T |
| AA Mutation | p.Arg2089Ser(p.R2089S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 26 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103589713:103589713(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4028C>A |
| AA Mutation | p.Ala1343Glu(p.A1343E) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 27 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103542821:103542821(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.6581G>A |
| AA Mutation | p.Cys2194Tyr(p.C2194Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 28 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103593737:103593737(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3857G>T |
| AA Mutation | p.Arg1286Leu(p.R1286L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 29 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103497907:103497907(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs114501042 |
| CDS Mutation | c.8863C>T |
| AA Mutation | p.Arg2955Cys(p.R2955C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 30 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103698002:103698002(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.994A>T |
| AA Mutation | p.Asn332Tyr(p.N332Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 31 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103697989:103697989(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1007G>C |
| AA Mutation | p.Gly336Ala(p.G336A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 32 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103523449:103523449(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7432G>A |
| AA Mutation | p.Gly2478Arg(p.G2478R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 33 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103545157:103545157(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.6490A>G |
| AA Mutation | p.Lys2164Glu(p.K2164E) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 34 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103539257:103539257(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7001A>C |
| AA Mutation | p.Lys2334Thr(p.K2334T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 35 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103650324:103650324(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs144078760 |
| CDS Mutation | c.1952G>A |
| AA Mutation | p.Arg651His(p.R651H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 36 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103510913:103510913(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs202166176 |
| CDS Mutation | c.8212C>T |
| AA Mutation | p.Arg2738Trp(p.R2738W) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 37 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103728146:103728146(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs375141725 |
| CDS Mutation | c.718G>A |
| AA Mutation | p.Val240Ile(p.V240I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 38 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103490696:103490696(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs765872977 |
| CDS Mutation | c.9577A>G |
| AA Mutation | p.Ile3193Val(p.I3193V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 39 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103482927:103482927(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs755131349 |
| CDS Mutation | c.10226G>A |
| AA Mutation | p.Arg3409His(p.R3409H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 40 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103496615:103496615(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9104G>T |
| AA Mutation | p.Gly3035Val(p.G3035V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 41 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103566756:103566756(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4592T>G |
| AA Mutation | p.Leu1531Arg(p.L1531R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 42 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103515400:103515400(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs759387967 |
| CDS Mutation | c.7904C>T |
| AA Mutation | p.Ala2635Val(p.A2635V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 43 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103833555:103833555(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs774401106 |
| CDS Mutation | c.455C>T |
| AA Mutation | p.Thr152Ile(p.T152I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 44 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103542807:103542807(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.6595A>G |
| AA Mutation | p.Ser2199Gly(p.S2199G) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 45 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103682231:103682231(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1174T>C |
| AA Mutation | p.Tyr392His(p.Y392H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 46 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103483795:103483795(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.10039A>G |
| AA Mutation | p.Ser3347Gly(p.S3347G) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 47 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103489808:103489808(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9697A>G |
| AA Mutation | p.Lys3233Glu(p.K3233E) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 48 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103483809:103483809(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs201703640 |
| CDS Mutation | c.10025C>T |
| AA Mutation | p.Thr3342Met(p.T3342M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 49 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000428762 |
| Start | 103654139:103654139(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1508G>A |
| AA Mutation | p.Arg503Lys(p.R503K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 50 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000428762 |
| Start | 103654140:103654140(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1507A>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 51 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000428762 |
| Start | 103515189:103515189(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.8115T>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 52 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000428762 |
| Start | 103503135:103503135(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.8370C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 53 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000428762 |
| Start | 103594426:103594426(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs747919198 |
| CDS Mutation | c.3606C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 54 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000428762 |
| Start | 103652568:103652568(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs138532222 |
| CDS Mutation | c.1746G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 55 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000428762 |
| Start | 103753192:103753192(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.567C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 56 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000428762 |
| Start | 103589700:103589700(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs762723785 |
| CDS Mutation | c.4041C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 57 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000428762 |
| Start | 103635472:103635472(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs199631495 |
| CDS Mutation | c.2418T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 58 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000428762 |
| Start | 103551156:103551156(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs554215103 |
| CDS Mutation | c.6213C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 59 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000428762 |
| Start | 103698000:103698000(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.996T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 60 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000428762 |
| Start | 103652574:103652574(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1740T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 61 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000428762 |
| Start | 103989171:103989171(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.186G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 62 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000428762 |
| Start | 103575642:103575642(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.4209delA |
| AA Mutation | p.Asp1404MetfsTer62(p.D1404Mfs*62) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 63 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000428762 |
| Start | 103575644:103575663(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.4188_4207delAAACGTGCCTCCATTTGGTT |
| AA Mutation | p.Lys1396AsnfsTer28(p.K1396Nfs*28) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 64 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000428762 |
| Start | 103593797:103593797(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.3797delA |
| AA Mutation | p.Asn1266MetfsTer12(p.N1266Mfs*12) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 65 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000428762 |
| Start | 103650376:103650376(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1900C>T |
| AA Mutation | p.Arg634Ter(p.R634*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 66 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000428762 |
| Start | 103503147:103503147(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.8358G>A |
| AA Mutation | p.Trp2786Ter(p.W2786*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 67 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000428762 |
| Start | 103542756:103542756(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.6646C>T |
| AA Mutation | p.Arg2216Ter(p.R2216*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 68 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000428762 |
| Start | 103698005:103698005(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.991G>T |
| AA Mutation | p.Glu331Ter(p.E331*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 69 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000428762 |
| Start | 103697968:103697968(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1028G>A |
| AA Mutation | p.Trp343Ter(p.W343*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 70 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000428762 |
| Start | 103472838:103472838(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs139326865 |
| CDS Mutation | c.10357C>T |
| AA Mutation | p.Arg3453Ter(p.R3453*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |