Primary Site >> Stomach Cancer
Gene >> HMCN1
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186053886:186053886(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.6762A>C |
| AA Mutation | p.Leu2254Phe(p.L2254F) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186132377:186132377(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.13280T>A |
| AA Mutation | p.Val4427Glu(p.V4427E) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 185962619:185962619(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1930G>A |
| AA Mutation | p.Ala644Thr(p.A644T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186123070:186123070(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs777001625 |
| CDS Mutation | c.12349C>T |
| AA Mutation | p.Arg4117Cys(p.R4117C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186144614:186144614(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs149329415 |
| CDS Mutation | c.14177G>A |
| AA Mutation | p.Gly4726Asp(p.G4726D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186136893:186136893(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.13538A>C |
| AA Mutation | p.Asn4513Thr(p.N4513T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186088006:186088006(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9438T>A |
| AA Mutation | p.Asn3146Lys(p.N3146K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 8 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186057396:186057396(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7307T>G |
| AA Mutation | p.Leu2436Arg(p.L2436R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 9 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186153760:186153760(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.15029A>C |
| AA Mutation | p.Glu5010Ala(p.E5010A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 10 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186114919:186114919(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs147547755 |
| CDS Mutation | c.11377C>T |
| AA Mutation | p.Arg3793Cys(p.R3793C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 11 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186178595:186178595(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.16123T>C |
| AA Mutation | p.Phe5375Leu(p.F5375L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 12 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186076605:186076605(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.8468A>G |
| AA Mutation | p.Lys2823Arg(p.K2823R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 13 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186130536:186130536(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.13069T>G |
| AA Mutation | p.Ser4357Ala(p.S4357A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 14 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186053936:186053936(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs747638841 |
| CDS Mutation | c.6812C>T |
| AA Mutation | p.Ala2271Val(p.A2271V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 15 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186119290:186119290(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs532914353 |
| CDS Mutation | c.11948A>G |
| AA Mutation | p.His3983Arg(p.H3983R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 16 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 185997497:185997497(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs781327521 |
| CDS Mutation | c.3847C>T |
| AA Mutation | p.Arg1283Cys(p.R1283C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 17 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186145906:186145906(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.14591A>T |
| AA Mutation | p.Asn4864Ile(p.N4864I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 18 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186114878:186114878(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.11336G>T |
| AA Mutation | p.Gly3779Val(p.G3779V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 19 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186061866:186061866(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs533111130 |
| CDS Mutation | c.7328G>A |
| AA Mutation | p.Arg2443Gln(p.R2443Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 20 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186136701:186136701(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs758752400 |
| CDS Mutation | c.13346C>T |
| AA Mutation | p.Thr4449Ile(p.T4449I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 21 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186115384:186115384(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.11531T>G |
| AA Mutation | p.Leu3844Arg(p.L3844R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 22 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 185989519:185989519(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3080A>C |
| AA Mutation | p.Lys1027Thr(p.K1027T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 23 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 185993262:185993262(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs774598089 |
| CDS Mutation | c.3458C>T |
| AA Mutation | p.Thr1153Ile(p.T1153I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 24 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186145481:186145481(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs758569536 |
| CDS Mutation | c.14345G>A |
| AA Mutation | p.Arg4782His(p.R4782H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 25 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186137897:186137897(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.13849T>A |
| AA Mutation | p.Ser4617Thr(p.S4617T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 26 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186145866:186145866(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.14551C>A |
| AA Mutation | p.Arg4851Ser(p.R4851S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 27 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186128215:186128215(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.12828G>T |
| AA Mutation | p.Gln4276His(p.Q4276H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 28 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186129974:186129974(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.12913G>T |
| AA Mutation | p.Asp4305Tyr(p.D4305Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 29 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 185984299:185984299(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2921C>A |
| AA Mutation | p.Ser974Tyr(p.S974Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 30 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186114916:186114916(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.11374G>T |
| AA Mutation | p.Asp3792Tyr(p.D3792Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 31 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186122987:186122987(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.12266T>C |
| AA Mutation | p.Val4089Ala(p.V4089A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 32 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186187888:186187888(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs759934341 |
| CDS Mutation | c.16420G>A |
| AA Mutation | p.Asp5474Asn(p.D5474N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 33 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 185977868:185977868(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2453G>A |
| AA Mutation | p.Gly818Asp(p.G818D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 34 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186053846:186053846(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.6722C>T |
| AA Mutation | p.Ser2241Phe(p.S2241F) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 35 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186067840:186067840(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.7712C>A |
| AA Mutation | p.Pro2571His(p.P2571H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 36 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186114065:186114065(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.11218C>T |
| AA Mutation | p.Pro3740Ser(p.P3740S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 37 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186017008:186017008(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.5237T>C |
| AA Mutation | p.Val1746Ala(p.V1746A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 38 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186086305:186086305(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.8944A>G |
| AA Mutation | p.Ile2982Val(p.I2982V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 39 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186152773:186152773(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.14920A>G |
| AA Mutation | p.Ile4974Val(p.I4974V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 40 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186182203:186182203(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.16330C>T |
| AA Mutation | p.His5444Tyr(p.H5444Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 41 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186187951:186187951(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.16483A>C |
| AA Mutation | p.Ser5495Arg(p.S5495R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 42 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186137931:186137931(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.13883A>G |
| AA Mutation | p.Asn4628Ser(p.N4628S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 43 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 185989617:185989617(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs149692259 |
| CDS Mutation | c.3178G>A |
| AA Mutation | p.Ala1060Thr(p.A1060T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 44 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186069765:186069765(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7982T>C |
| AA Mutation | p.Val2661Ala(p.V2661A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 45 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 185997510:185997510(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3860C>A |
| AA Mutation | p.Pro1287Gln(p.P1287Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 46 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186019654:186019654(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.5584A>C |
| AA Mutation | p.Lys1862Gln(p.K1862Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 47 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 185977879:185977879(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2464C>T |
| AA Mutation | p.Pro822Ser(p.P822S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 48 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186153933:186153933(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.15202T>C |
| AA Mutation | p.Tyr5068His(p.Y5068H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 49 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 185923573:185923573(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1205T>A |
| AA Mutation | p.Phe402Tyr(p.F402Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 50 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 185977865:185977865(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2450A>G |
| AA Mutation | p.Gln817Arg(p.Q817R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 51 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186086341:186086341(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.8980C>G |
| AA Mutation | p.Pro2994Ala(p.P2994A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 52 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 185909377:185909377(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.662T>C |
| AA Mutation | p.Val221Ala(p.V221A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 53 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186144217:186144217(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.13969G>A |
| AA Mutation | p.Glu4657Lys(p.E4657K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 54 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186189628:186189628(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs148530862 |
| CDS Mutation | c.16658G>A |
| AA Mutation | p.Arg5553Gln(p.R5553Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 55 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186108577:186108577(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.10969A>G |
| AA Mutation | p.Arg3657Gly(p.R3657G) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 56 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 185923567:185923567(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1199C>A |
| AA Mutation | p.Ala400Asp(p.A400D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 57 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186052991:186052991(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.6617T>G |
| AA Mutation | p.Leu2206Arg(p.L2206R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 58 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186007171:186007171(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.4519G>A |
| AA Mutation | p.Gly1507Arg(p.G1507R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 59 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186178602:186178602(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.16130C>A |
| AA Mutation | p.Pro5377His(p.P5377H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 60 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186145448:186145448(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs141397809 |
| CDS Mutation | c.14312G>A |
| AA Mutation | p.Arg4771Gln(p.R4771Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 61 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 185989519:185989519(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.3080A>T |
| AA Mutation | p.Lys1027Met(p.K1027M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 62 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186189767:186189767(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.16797A>C |
| AA Mutation | p.Glu5599Asp(p.E5599D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 63 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186087637:186087637(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9355A>G |
| AA Mutation | p.Lys3119Glu(p.K3119E) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 64 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186090898:186090898(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9868G>T |
| AA Mutation | p.Gly3290Cys(p.G3290C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 65 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 185994833:185994833(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs527332989 |
| CDS Mutation | c.3524G>A |
| AA Mutation | p.Arg1175His(p.R1175H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 66 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186055401:186055401(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.6871A>C |
| AA Mutation | p.Thr2291Pro(p.T2291P) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 67 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 185965861:185965861(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs767575353 |
| CDS Mutation | c.2158G>A |
| AA Mutation | p.Val720Ile(p.V720I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 68 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186123098:186123098(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs141573564 |
| CDS Mutation | c.12377G>A |
| AA Mutation | p.Arg4126His(p.R4126H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 69 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186119794:186119794(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs758672862 |
| CDS Mutation | c.12006C>A |
| AA Mutation | p.Asn4002Lys(p.N4002K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 70 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 185928659:185928659(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1544A>T |
| AA Mutation | p.Asp515Val(p.D515V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 71 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186015375:186015375(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4847A>G |
| AA Mutation | p.Tyr1616Cys(p.Y1616C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 72 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186023110:186023110(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.5706C>A |
| AA Mutation | p.Asn1902Lys(p.N1902K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 73 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 185965819:185965819(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2116G>A |
| AA Mutation | p.Val706Ile(p.V706I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 74 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 185864516:185864516(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.386C>A |
| AA Mutation | p.Ala129Asp(p.A129D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 75 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186065352:186065352(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.7628C>A |
| AA Mutation | p.Pro2543Gln(p.P2543Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 76 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186136808:186136808(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs781672541 |
| CDS Mutation | c.13453C>T |
| AA Mutation | p.Arg4485Trp(p.R4485W) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 77 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186055655:186055655(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7125A>C |
| AA Mutation | p.Lys2375Asn(p.K2375N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 78 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 185963793:185963793(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1996T>G |
| AA Mutation | p.Leu666Val(p.L666V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 79 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186114035:186114035(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.11188A>C |
| AA Mutation | p.Thr3730Pro(p.T3730P) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 80 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186093190:186093190(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.9944G>A |
| AA Mutation | p.Gly3315Glu(p.G3315E) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 81 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186145766:186145766(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.14451G>T |
| AA Mutation | p.Trp4817Cys(p.W4817C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 82 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186137612:186137612(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.13697A>G |
| AA Mutation | p.Lys4566Arg(p.K4566R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 83 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186015985:186015985(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4937C>T |
| AA Mutation | p.Ala1646Val(p.A1646V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 84 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186189781:186189781(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs372803002 |
| CDS Mutation | c.16811G>A |
| AA Mutation | p.Arg5604His(p.R5604H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 85 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000271588 |
| Start | 186086304:186086304(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.8943C>A |
| AA Mutation | p.Phe2981Leu(p.F2981L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 86 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000271588 |
| Start | 186065275:186065275(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.7551G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 87 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000271588 |
| Start | 185962627:185962627(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs761384759 |
| CDS Mutation | c.1938C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 88 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000271588 |
| Start | 186189653:186189653(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.16683A>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 89 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000271588 |
| Start | 186074821:186074821(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs562987367 |
| CDS Mutation | c.8220C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 90 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000271588 |
| Start | 185989598:185989598(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3159C>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 91 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000271588 |
| Start | 186001641:186001641(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4248G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 92 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000271588 |
| Start | 186122967:186122967(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs775373015 |
| CDS Mutation | c.12246C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 93 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000271588 |
| Start | 186086376:186086376(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs751459581 |
| CDS Mutation | c.9015C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 94 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000271588 |
| Start | 186094303:186094303(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs746089108 |
| CDS Mutation | c.10224C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 95 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000271588 |
| Start | 186182193:186182193(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.16320T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 96 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000271588 |
| Start | 186045803:186045803(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.6420C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 97 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000271588 |
| Start | 186114852:186114852(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.11310T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 98 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000271588 |
| Start | 186145527:186145527(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.14391G>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 99 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000271588 |
| Start | 186001647:186001647(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4254C>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 100 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000271588 |
| Start | 186178507:186178507(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.16035A>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 101 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000271588 |
| Start | 186153794:186153794(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs114051074 |
| CDS Mutation | c.15063C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 102 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000271588 |
| Start | 186145449:186145449(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.14313G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 103 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000271588 |
| Start | 185990402:185990402(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs778305673 |
| CDS Mutation | c.3336T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 104 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000271588 |
| Start | 185995074:185995074(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs112519612 |
| CDS Mutation | c.3765G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 105 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000271588 |
| Start | 186088191:186088191(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs747523783 |
| CDS Mutation | c.9492G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 106 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000271588 |
| Start | 186123048:186123048(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.12327C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 107 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000271588 |
| Start | 185865767:185865767(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.525T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 108 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000271588 |
| Start | 186119258:186119258(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs374616091 |
| CDS Mutation | c.11916G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 109 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000271588 |
| Start | 186128191:186128191(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs147822137 |
| CDS Mutation | c.12804C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 110 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000271588 |
| Start | 185990288:185990288(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3222G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 111 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000271588 |
| Start | 186103554:186103554(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.10656T>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 112 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000271588 |
| Start | 185990366:185990366(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs750155072 |
| CDS Mutation | c.3300A>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 113 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000271588 |
| Start | 186038950:186038950(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs751057536 |
| CDS Mutation | c.5973C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 114 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000271588 |
| Start | 186153845:186153845(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.15114A>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 115 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000271588 |
| Start | 186037959:186037959(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.5775A>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 116 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000271588 |
| Start | 186055650:186055650(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.7125delA |
| AA Mutation | p.Lys2375AsnfsTer4(p.K2375Nfs*4) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 117 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000271588 |
| Start | 186117569:186117569(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.11798delA |
| AA Mutation | p.Asn3933MetfsTer3(p.N3933Mfs*3) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 118 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000271588 |
| Start | 186114001:186114001(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.11158delC |
| AA Mutation | p.Gln3720ArgfsTer4(p.Q3720Rfs*4) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 119 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000271588 |
| Start | 185993250:185993251(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.3447_3448delTT |
| AA Mutation | p.Val1151CysfsTer27(p.V1151Cfs*27) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 120 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000271588 |
| Start | 185928652:185928652(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.1542delT |
| AA Mutation | p.Phe514LeufsTer26(p.F514Lfs*26) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 121 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000271588 |
| Start | 185735012:185735012(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.236delT |
| AA Mutation | p.Phe79SerfsTer16(p.F79Sfs*16) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 122 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000271588 |
| Start | 186125711:186125711(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.12612delA |
| AA Mutation | p.Asp4205ThrfsTer5(p.D4205Tfs*5) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 123 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000271588 |
| Start | 186113995:186113995(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.11153delG |
| AA Mutation | p.Gly3718AlafsTer6(p.G3718Afs*6) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 124 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000271588 |
| Start | 186136871:186136871(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.13516G>T |
| AA Mutation | p.Glu4506Ter(p.E4506*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 125 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000271588 |
| Start | 185981067:185981067(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2656G>T |
| AA Mutation | p.Gly886Ter(p.G886*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 126 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000271588 |
| Start | 186178502:186178502(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.16030G>T |
| AA Mutation | p.Gly5344Ter(p.G5344*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 127 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000271588 |
| Start | 186114925:186114925(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs150673369 |
| CDS Mutation | c.11383C>T |
| AA Mutation | p.Arg3795Ter(p.R3795*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 128 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000271588 |
| Start | 186128219:186128219(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs769844693 |
| CDS Mutation | c.12832C>T |
| AA Mutation | p.Arg4278Ter(p.R4278*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 129 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000271588 |
| Start | 186189762:186189762(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs193921043 |
| CDS Mutation | c.16792C>T |
| AA Mutation | p.Arg5598Ter(p.R5598*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |