Primary Site >> Stomach Cancer
Gene >> LRP1B
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140456516:140456516(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9902C>A |
| AA Mutation | p.Pro3301His(p.P3301H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140840951:140840951(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.5081A>C |
| AA Mutation | p.Lys1694Thr(p.K1694T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140700567:140700567(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs200035883 |
| CDS Mutation | c.6482G>A |
| AA Mutation | p.Arg2161Gln(p.R2161Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140982235:140982235(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2812C>T |
| AA Mutation | p.Arg938Cys(p.R938C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140247115:140247115(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.13295A>G |
| AA Mutation | p.Lys4432Arg(p.K4432R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140442576:140442576(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.10342C>T |
| AA Mutation | p.His3448Tyr(p.H3448Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140315087:140315087(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.12653A>C |
| AA Mutation | p.Lys4218Thr(p.K4218T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 8 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140442581:140442581(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs748759183 |
| CDS Mutation | c.10337C>T |
| AA Mutation | p.Thr3446Met(p.T3446M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 9 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140475266:140475266(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9497G>A |
| AA Mutation | p.Ser3166Asn(p.S3166N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 10 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140883965:140883965(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4021A>G |
| AA Mutation | p.Thr1341Ala(p.T1341A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 11 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140851686:140851686(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.4677G>C |
| AA Mutation | p.Leu1559Phe(p.L1559F) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 12 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140541006:140541006(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.7480G>C |
| AA Mutation | p.Asp2494His(p.D2494H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 13 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140923069:140923069(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs370586151 |
| CDS Mutation | c.3215G>A |
| AA Mutation | p.Arg1072His(p.R1072H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 14 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140867679:140867679(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs758430451 |
| CDS Mutation | c.4490A>C |
| AA Mutation | p.Lys1497Thr(p.K1497T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 15 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140385991:140385991(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.10433C>A |
| AA Mutation | p.Pro3478His(p.P3478H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 16 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140501746:140501746(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.8791T>G |
| AA Mutation | p.Leu2931Val(p.L2931V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 17 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 141058906:141058906(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1385A>T |
| AA Mutation | p.Tyr462Phe(p.Y462F) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 18 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140247106:140247106(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.13304A>C |
| AA Mutation | p.Lys4435Thr(p.K4435T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 19 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140322003:140322003(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.12600A>C |
| AA Mutation | p.Lys4200Asn(p.K4200N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 20 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140701728:140701728(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.6420A>C |
| AA Mutation | p.Arg2140Ser(p.R2140S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 21 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140501772:140501772(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.8765A>C |
| AA Mutation | p.Glu2922Ala(p.E2922A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 22 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140989652:140989652(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2650C>A |
| AA Mutation | p.His884Asn(p.H884N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 23 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140385988:140385988(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs780006737 |
| CDS Mutation | c.10436A>G |
| AA Mutation | p.His3479Arg(p.H3479R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 24 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140883982:140883982(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4004C>T |
| AA Mutation | p.Ala1335Val(p.A1335V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 25 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140487731:140487731(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.9129C>A |
| AA Mutation | p.Asn3043Lys(p.N3043K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 26 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 141055247:141055247(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1421C>T |
| AA Mutation | p.Ala474Val(p.A474V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 27 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140335646:140335646(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs750582438 |
| CDS Mutation | c.12085C>A |
| AA Mutation | p.Pro4029Thr(p.P4029T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 28 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140510026:140510026(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.8300G>T |
| AA Mutation | p.Ser2767Ile(p.S2767I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 29 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 141055233:141055233(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1435C>G |
| AA Mutation | p.Pro479Ala(p.P479A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 30 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140373073:140373073(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.10703C>A |
| AA Mutation | p.Ala3568Glu(p.A3568E) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 31 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140850318:140850318(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4723T>A |
| AA Mutation | p.Phe1575Ile(p.F1575I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 32 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140526241:140526241(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7872C>A |
| AA Mutation | p.Asn2624Lys(p.N2624K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 33 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140770904:140770904(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.5603A>C |
| AA Mutation | p.Gln1868Pro(p.Q1868P) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 34 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140450588:140450588(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.10037C>T |
| AA Mutation | p.Ser3346Phe(p.S3346F) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 35 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140457641:140457641(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9636A>C |
| AA Mutation | p.Gln3212His(p.Q3212H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 36 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140994062:140994062(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2577A>C |
| AA Mutation | p.Gln859His(p.Q859H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 37 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140514683:140514683(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs781076753 |
| CDS Mutation | c.8239G>A |
| AA Mutation | p.Asp2747Asn(p.D2747N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 38 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140886254:140886254(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3848T>A |
| AA Mutation | p.Leu1283His(p.L1283H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 39 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140373020:140373020(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.10756A>C |
| AA Mutation | p.Ser3586Arg(p.S3586R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 40 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140270261:140270261(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.13228A>G |
| AA Mutation | p.Thr4410Ala(p.T4410A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 41 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140350945:140350945(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.11744C>A |
| AA Mutation | p.Ser3915Tyr(p.S3915Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 42 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140370806:140370806(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs777683696 |
| CDS Mutation | c.10912C>T |
| AA Mutation | p.Arg3638Trp(p.R3638W) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 43 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140444335:140444335(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.10289A>G |
| AA Mutation | p.Asp3430Gly(p.D3430G) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 44 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140487655:140487655(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs747167577 |
| CDS Mutation | c.9205C>T |
| AA Mutation | p.Arg3069Cys(p.R3069C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 45 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140702437:140702437(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.6140T>C |
| AA Mutation | p.Ile2047Thr(p.I2047T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 46 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140989599:140989599(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2703G>T |
| AA Mutation | p.Lys901Asn(p.K901N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 47 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 141005418:141005418(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs139524624 |
| CDS Mutation | c.2420C>T |
| AA Mutation | p.Thr807Ile(p.T807I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 48 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 141015737:141015737(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs143197572 |
| CDS Mutation | c.2149G>A |
| AA Mutation | p.Asp717Asn(p.D717N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 49 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 141058912:141058912(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1379G>A |
| AA Mutation | p.Arg460Gln(p.R460Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 50 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 141062264:141062264(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1023C>A |
| AA Mutation | p.Phe341Leu(p.F341L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 51 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 141188550:141188550(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs776305678 |
| CDS Mutation | c.884G>A |
| AA Mutation | p.Arg295Gln(p.R295Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 52 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140598814:140598814(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.7011G>T |
| AA Mutation | p.Trp2337Cys(p.W2337C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 53 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140886167:140886167(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.3935T>C |
| AA Mutation | p.Ile1312Thr(p.I1312T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 54 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140234824:140234824(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.13621T>C |
| AA Mutation | p.Tyr4541His(p.Y4541H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 55 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140701766:140701766(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.6382G>A |
| AA Mutation | p.Val2128Ile(p.V2128I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 56 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 141810348:141810348(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.136G>A |
| AA Mutation | p.Val46Ile(p.V46I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 57 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140371226:140371226(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.10828T>C |
| AA Mutation | p.Ser3610Pro(p.S3610P) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 58 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140233307:140233307(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs151022058 |
| CDS Mutation | c.13679C>T |
| AA Mutation | p.Pro4560Leu(p.P4560L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 59 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140321992:140321992(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.12611A>C |
| AA Mutation | p.Asn4204Thr(p.N4204T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 60 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 141058999:141058999(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1292C>T |
| AA Mutation | p.Ser431Phe(p.S431F) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 61 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140444398:140444398(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.10226G>A |
| AA Mutation | p.Cys3409Tyr(p.C3409Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 62 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140487628:140487628(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.9232A>G |
| AA Mutation | p.Ser3078Gly(p.S3078G) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 63 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140867806:140867806(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4363G>A |
| AA Mutation | p.Asp1455Asn(p.D1455N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 64 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140234835:140234835(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs376526778 |
| CDS Mutation | c.13610C>T |
| AA Mutation | p.Ala4537Val(p.A4537V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 65 |
| Mutation Consequence | missense_variant;splice_region_variant |
| Transcription ID | ENST00000389484 |
| Start | 140506918:140506918(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.8399C>A |
| AA Mutation | p.Ala2800Asp(p.A2800D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 66 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140526323:140526323(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7790G>A |
| AA Mutation | p.Arg2597His(p.R2597H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 67 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140776209:140776209(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.5389T>G |
| AA Mutation | p.Leu1797Val(p.L1797V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 68 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140841014:140841014(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs199519370 |
| CDS Mutation | c.5018C>T |
| AA Mutation | p.Thr1673Met(p.T1673M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 69 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 141480528:141480528(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs145250710 |
| CDS Mutation | c.211G>A |
| AA Mutation | p.Glu71Lys(p.E71K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 70 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 141062122:141062122(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1165C>A |
| AA Mutation | p.Leu389Ile(p.L389I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 71 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 141059045:141059045(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1246C>A |
| AA Mutation | p.Leu416Ile(p.L416I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 72 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140867667:140867667(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4502A>C |
| AA Mutation | p.Gln1501Pro(p.Q1501P) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 73 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140444387:140444387(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.10237A>G |
| AA Mutation | p.Asn3413Asp(p.N3413D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 74 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140902923:140902923(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3763G>A |
| AA Mutation | p.Val1255Ile(p.V1255I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 75 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140902965:140902965(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3721G>C |
| AA Mutation | p.Glu1241Gln(p.E1241Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 76 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 141020048:141020048(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1844G>T |
| AA Mutation | p.Trp615Leu(p.W615L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 77 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140501705:140501705(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs769739604 |
| CDS Mutation | c.8832C>A |
| AA Mutation | p.Asp2944Glu(p.D2944E) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 78 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 141049060:141049060(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1715T>C |
| AA Mutation | p.Phe572Ser(p.F572S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 79 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140868171:140868171(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4262T>C |
| AA Mutation | p.Met1421Thr(p.M1421T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 80 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 141480496:141480496(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.243C>A |
| AA Mutation | p.His81Gln(p.H81Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 81 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140274510:140274510(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.13056A>T |
| AA Mutation | p.Glu4352Asp(p.E4352D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 82 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140907999:140907999(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3398G>A |
| AA Mutation | p.Ser1133Asn(p.S1133N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 83 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140485488:140485488(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.9280G>T |
| AA Mutation | p.Val3094Phe(p.V3094F) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 84 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140886170:140886170(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.3932G>A |
| AA Mutation | p.Arg1311Lys(p.R1311K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 85 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140541787:140541787(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7379C>T |
| AA Mutation | p.Thr2460Ile(p.T2460I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 86 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140475279:140475279(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9484G>A |
| AA Mutation | p.Gly3162Arg(p.G3162R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 87 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140840939:140840939(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.5093T>G |
| AA Mutation | p.Leu1698Arg(p.L1698R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 88 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 141062133:141062133(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1154A>T |
| AA Mutation | p.Tyr385Phe(p.Y385F) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 89 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140884005:140884005(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3981A>T |
| AA Mutation | p.Glu1327Asp(p.E1327D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 90 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 141005391:141005391(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2447G>T |
| AA Mutation | p.Arg816Leu(p.R816L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 91 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140851723:140851723(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs777671398 |
| CDS Mutation | c.4640A>G |
| AA Mutation | p.Asn1547Ser(p.N1547S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 92 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 141188518:141188518(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs147347638 |
| CDS Mutation | c.916C>T |
| AA Mutation | p.Arg306Trp(p.R306W) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 93 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 141049137:141049137(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1638T>G |
| AA Mutation | p.Asp546Glu(p.D546E) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 94 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140867649:140867649(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4520A>C |
| AA Mutation | p.Gln1507Pro(p.Q1507P) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 95 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140994016:140994016(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs768074082 |
| CDS Mutation | c.2623G>A |
| AA Mutation | p.Asp875Asn(p.D875N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 96 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 142130678:142130678(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.52G>T |
| AA Mutation | p.Ala18Ser(p.A18S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 97 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140850197:140850197(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs765212179 |
| CDS Mutation | c.4844C>T |
| AA Mutation | p.Ala1615Val(p.A1615V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 98 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 141229373:141229373(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.660T>A |
| AA Mutation | p.Asn220Lys(p.N220K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 99 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140503003:140503003(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.8622T>A |
| AA Mutation | p.His2874Gln(p.H2874Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 100 |
| Mutation Consequence | missense_variant;splice_region_variant |
| Transcription ID | ENST00000389484 |
| Start | 140274425:140274425(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.13141A>G |
| AA Mutation | p.Asn4381Asp(p.N4381D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 101 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140315081:140315081(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.12659C>G |
| AA Mutation | p.Thr4220Ser(p.T4220S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 102 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140716081:140716081(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.5915A>T |
| AA Mutation | p.His1972Leu(p.H1972L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 103 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140323896:140323896(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.12511G>T |
| AA Mutation | p.Asp4171Tyr(p.D4171Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 104 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140903022:140903022(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.3664C>A |
| AA Mutation | p.Leu1222Ile(p.L1222I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 105 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140385914:140385914(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.10510A>G |
| AA Mutation | p.Asn3504Asp(p.N3504D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 106 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 141049010:141049010(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1765G>C |
| AA Mutation | p.Glu589Gln(p.E589Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 107 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140598746:140598746(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7079C>T |
| AA Mutation | p.Thr2360Ile(p.T2360I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 108 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140769327:140769327(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.5644A>G |
| AA Mutation | p.Met1882Val(p.M1882V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 109 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140902928:140902928(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3758C>T |
| AA Mutation | p.Thr1253Ile(p.T1253I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 110 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140907936:140907936(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3461A>G |
| AA Mutation | p.Glu1154Gly(p.E1154G) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 111 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140989654:140989654(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2648A>C |
| AA Mutation | p.Asn883Thr(p.N883T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 112 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140238168:140238168(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.13544T>G |
| AA Mutation | p.Met4515Arg(p.M4515R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 113 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140335669:140335669(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.12062T>C |
| AA Mutation | p.Leu4021Pro(p.L4021P) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 114 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140492657:140492657(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9071A>G |
| AA Mutation | p.Glu3024Gly(p.E3024G) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 115 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140514658:140514658(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.8264T>C |
| AA Mutation | p.Ile2755Thr(p.I2755T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 116 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140485488:140485488(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9280G>A |
| AA Mutation | p.Val3094Ile(p.V3094I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 117 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140325836:140325836(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.12266A>C |
| AA Mutation | p.Asp4089Ala(p.D4089A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 118 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140475268:140475268(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9495G>T |
| AA Mutation | p.Gln3165His(p.Q3165H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 119 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140485515:140485515(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9253A>G |
| AA Mutation | p.Asn3085Asp(p.N3085D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 120 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140350853:140350853(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.11836A>G |
| AA Mutation | p.Ile3946Val(p.I3946V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 121 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 141247350:141247350(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.468A>C |
| AA Mutation | p.Gln156His(p.Q156H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 122 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140297940:140297940(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.12835T>G |
| AA Mutation | p.Phe4279Val(p.F4279V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 123 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 141055230:141055230(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1438T>C |
| AA Mutation | p.Tyr480His(p.Y480H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 124 |
| Mutation Consequence | missense_variant;splice_region_variant |
| Transcription ID | ENST00000389484 |
| Start | 140903163:140903163(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3523G>C |
| AA Mutation | p.Glu1175Gln(p.E1175Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 125 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 141015888:141015888(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1998A>C |
| AA Mutation | p.Glu666Asp(p.E666D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 126 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140867767:140867767(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4402T>A |
| AA Mutation | p.Tyr1468Asn(p.Y1468N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 127 |
| Mutation Consequence | missense_variant;splice_region_variant |
| Transcription ID | ENST00000389484 |
| Start | 140270346:140270346(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.13143C>A |
| AA Mutation | p.Asn4381Lys(p.N4381K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 128 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140598805:140598805(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7020A>C |
| AA Mutation | p.Gln2340His(p.Q2340H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 129 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140321992:140321992(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.12611A>G |
| AA Mutation | p.Asn4204Ser(p.N4204S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 130 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140700339:140700339(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.6710G>A |
| AA Mutation | p.Gly2237Asp(p.G2237D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 131 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140851710:140851710(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4653T>A |
| AA Mutation | p.Ser1551Arg(p.S1551R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 132 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140536628:140536628(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7595G>A |
| AA Mutation | p.Gly2532Asp(p.G2532D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 133 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000389484 |
| Start | 140598651:140598651(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.7174T>A |
| AA Mutation | p.Tyr2392Asn(p.Y2392N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 134 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389484 |
| Start | 141049065:141049065(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1710C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 135 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389484 |
| Start | 140883834:140883834(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4152T>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 136 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389484 |
| Start | 140495635:140495635(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.8964T>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 137 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389484 |
| Start | 140702233:140702233(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.6210G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 138 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389484 |
| Start | 140541948:140541948(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7218G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 139 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389484 |
| Start | 140541960:140541960(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.7206A>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 140 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389484 |
| Start | 141188483:141188483(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.951T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 141 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389484 |
| Start | 140350925:140350925(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.11764A>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 142 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389484 |
| Start | 141005375:141005375(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs770657509 |
| CDS Mutation | c.2463C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 143 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389484 |
| Start | 140385924:140385924(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.10500C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 144 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389484 |
| Start | 140385981:140385981(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.10443C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 145 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389484 |
| Start | 140534052:140534052(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs556561784 |
| CDS Mutation | c.7731C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 146 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389484 |
| Start | 140364740:140364740(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.11052T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 147 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389484 |
| Start | 140358882:140358882(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs138052993 |
| CDS Mutation | c.11196G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 148 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389484 |
| Start | 140907899:140907899(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs762752944 |
| CDS Mutation | c.3498C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 149 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389484 |
| Start | 140950245:140950245(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3126T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 150 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389484 |
| Start | 140358004:140358004(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.11370T>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 151 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389484 |
| Start | 140701833:140701833(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.6315C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 152 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389484 |
| Start | 140982248:140982248(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2799T>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 153 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389484 |
| Start | 140444579:140444579(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.10158T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 154 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389484 |
| Start | 140370732:140370732(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.10986T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 155 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389484 |
| Start | 140922984:140922984(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3300G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 156 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389484 |
| Start | 140716098:140716098(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.5898C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 157 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389484 |
| Start | 140541054:140541054(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7432T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 158 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389484 |
| Start | 140314954:140314954(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs771900184 |
| CDS Mutation | c.12786T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 159 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389484 |
| Start | 140444384:140444384(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.10240T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 160 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389484 |
| Start | 140233282:140233282(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.13704T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 161 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389484 |
| Start | 140501819:140501819(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.8718T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 162 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389484 |
| Start | 140526289:140526289(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7824A>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 163 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389484 |
| Start | 140325796:140325796(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.12306C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 164 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000389484 |
| Start | 140475313:140475313(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs756957154 |
| CDS Mutation | c.9450C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 165 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000389484 |
| Start | 140358055:140358055(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.11319delA |
| AA Mutation | p.Lys3773AsnfsTer26(p.K3773Nfs*26) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 166 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000389484 |
| Start | 141062079:141062079(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.1208delA |
| AA Mutation | p.Asn403IlefsTer17(p.N403Ifs*17) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 167 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000389484 |
| Start | 140702167:140702167(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.6276delT |
| AA Mutation | p.Phe2092LeufsTer29(p.F2092Lfs*29) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 168 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000389484 |
| Start | 140770947:140770947(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.5560delG |
| AA Mutation | p.Glu1854LysfsTer24(p.E1854Kfs*24) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 169 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000389484 |
| Start | 140274465:140274465(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | rs751694974 |
| CDS Mutation | c.13101delG |
| AA Mutation | p.His4368ThrfsTer4(p.H4368Tfs*4) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 170 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000389484 |
| Start | 141013650:141013650(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.2286delT |
| AA Mutation | p.Gln763AsnfsTer2(p.Q763Nfs*2) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 171 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000389484 |
| Start | 140994068:140994069(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.2570_2571delGT |
| AA Mutation | p.Cys857TyrfsTer8(p.C857Yfs*8) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 172 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000389484 |
| Start | 140356435:140356435(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.11437G>T |
| AA Mutation | p.Gly3813Ter(p.G3813*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 173 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000389484 |
| Start | 140841058:140841058(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.4974G>A |
| AA Mutation | p.Trp1658Ter(p.W1658*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 174 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000389484 |
| Start | 140444605:140444605(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.10132G>T |
| AA Mutation | p.Gly3378Ter(p.G3378*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 175 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000389484 |
| Start | 140994054:140994054(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2585G>A |
| AA Mutation | p.Trp862Ter(p.W862*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 176 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000389484 |
| Start | 140233236:140233236(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.13750G>T |
| AA Mutation | p.Glu4584Ter(p.E4584*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 177 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000389484 |
| Start | 141055124:141055124(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1544C>A |
| AA Mutation | p.Ser515Ter(p.S515*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 178 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000389484 |
| Start | 140850147:140850147(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4894C>T |
| AA Mutation | p.Arg1632Ter(p.R1632*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 179 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000389484 |
| Start | 140324013:140324013(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.12394G>T |
| AA Mutation | p.Gly4132Ter(p.G4132*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 180 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000389484 |
| Start | 140501770:140501770(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.8767A>T |
| AA Mutation | p.Arg2923Ter(p.R2923*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 181 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000389484 |
| Start | 140334547:140334547(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.12129G>A |
| AA Mutation | p.Trp4043Ter(p.W4043*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 182 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000389484 |
| Start | 140534126:140534126(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs140801406 |
| CDS Mutation | c.7657C>T |
| AA Mutation | p.Arg2553Ter(p.R2553*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |