RRP1B

RRP1B ribosomal RNA processing 1B

Annotation transcript: NM_015056.3

689 unique variant annotations were identified in 359 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
21-45079552-C-T c.7C>T p.P3S Missense 1/16 - 1
21-45079553-C-T c.8C>T p.P3L Missense 1/16 - 1
21-45079555-G-A c.10G>A p.A4T Missense 1/16 - 1
21-45079557-C-A c.12C>A p.A4= Synonymous 1/16 - 1
21-45079557-C-G c.12C>G p.A4= Synonymous 1/16 - 1
21-45079557-C-T c.12C>T p.A4= Synonymous 1/16 - 1
21-45079565-C-T c.20C>T p.P7L Missense 1/16 - 1
21-45079577-A-C c.32A>C p.Q11P Missense 1/16 - 1
21-45079582-GC-TA c.37_38delinsTA p.A13Y Missense 1/16 - 1
21-45079586-A-G c.41A>G p.Q14R Missense 1/16 - 1
21-45079587-G-A c.42G>A p.Q14= Synonymous 1/16 - 3
21-45079594-G-A c.49G>A p.A17T Missense 1/16 - 2
21-45079594-G-C c.49G>C p.A17P Missense 1/16 - 1
21-45079594-GC-CA c.49_50delinsCA p.A17Q Missense 1/16 - 1
21-45079595-CG-AC c.50_51delinsAC p.A17D Missense 1/16 - 1
21-45079597-TC-CT c.52_53delinsCT p.S18L Missense 1/16 - 1
21-45079597-T-G c.52T>G p.S18A Missense 1/16 - 1
21-45079598-C-T c.53C>T p.S18F Missense 1/16 - 1
21-45079605-G-C c.60G>C p.E20D Missense 1/16 - 1
21-45079605-G-T c.60G>T p.E20D Missense 1/16 - 1
21-45079618-G-A c.73G>A p.D25N Missense 1/16 - 1
21-45079620-C-G c.75C>G p.D25E Missense 1/16 - 1
21-45079621-CGA-TGT c.76_78delinsTGT p.R26C Missense 1/16 - 1
21-45079624-GCG-CAT c.79_81delinsCAT p.A27H Missense 1/16 - 1
21-45079629-G-A c.84G>A p.V28= Synonymous 1/16 - 2
21-45079629-G-C c.84G>C p.V28= Synonymous 1/16 - 2
21-45079629-G-T c.84G>T p.V28= Synonymous 1/16 - 2
21-45079632-G-C c.87G>C p.K29N Missense 1/16 - 1
21-45079632-G-T c.87G>T p.K29N Missense 1/16 - 1
21-45079642-C-T c.97C>T p.Q33* Nonsense 1/16 - 1
21-45079648-A-G c.103A>G p.I35V Missense 1/16 - 1
21-45079654-G-A c.109G>A p.V37M Missense 1/16 - 1
21-45079671-G-C c.126G>C p.E42D Missense 1/16 - 1
21-45079671-G-T c.126G>T p.E42D Missense 1/16 - 1
21-45079672-A-G c.127A>G p.T43A Missense 1/16 - 1
21-45080852-T-G c.130+1177T>G - IntronicSNV - 1/15 1
21-45088492-C-T c.131-1273C>T - IntronicSNV - 1/15 1
21-45089767-G-A c.133G>A p.G45S Missense 2/16 - 1
21-45089770-TT-GA c.136_137delinsGA p.F46D Missense 2/16 - 1
21-45089772-C-A c.138C>A p.F46L Missense 2/16 - 1
21-45089773-A-C c.139A>C p.S47R Missense 2/16 - 1
21-45089775-T-A c.141T>A p.S47R Missense 2/16 - 1
21-45089775-T-G c.141T>G p.S47R Missense 2/16 - 1
21-45089779-G-A c.145G>A p.E49K Missense 2/16 - 2
21-45089792-A-G c.158A>G p.K53R Missense 2/16 - 1
21-45089795-T-A c.161T>A p.I54N Missense 2/16 - 1
21-45089796-C-T c.162C>T p.I54= Synonymous 2/16 - 1
21-45089805-G-A c.171G>A p.G57= Synonymous 2/16 - 1
21-45089808-C-T c.174C>T p.L58= Synonymous 2/16 - 4
21-45089813-A-C c.179A>C p.Y60S Missense 2/16 - 1
21-45089814-C-A c.180C>A p.Y60* Nonsense 2/16 - 1
21-45089815-T-C c.181T>C p.C61R Missense 2/16 - 1
21-45089816-TG-T c.182del p.C61Sfs*21 Frameshift 2/16 - 1
21-45089817-C-T c.183C>T p.C61= Synonymous 2/16 - 1
21-45089821-T-G c.187T>G p.W63G Missense 2/16 - 1
21-45089830-G-A c.196G>A p.D66N Missense 2/16 - 1
21-45089835-A-C c.201A>C p.E67D Missense 2/16 - 1
21-45089836-C-A c.202C>A p.P68T Missense 2/16 - 2
21-45089846-A-G c.212A>G p.Q71R Missense 2/16 - 1
21-45089877-G-A c.213+30G>A - IntronicSNV - 2/15 7
21-45092095-G-C c.214-94G>C - IntronicSNV - 2/15 6
21-45092185-G-A c.214-4G>A - IntronicSNV - 2/15 1
21-45092191-A-G c.216A>G p.E72= Synonymous 3/16 - 3
21-45092192-G-C c.217G>C p.E73Q Missense 3/16 - 1
21-45092195-C-A c.220C>A p.L74I Missense 3/16 - 5
21-45092197-C-A c.222C>A p.L74= Synonymous 3/16 - 1
21-45092197-C-G c.222C>G p.L74= Synonymous 3/16 - 1
21-45092197-C-T c.222C>T p.L74= Synonymous 3/16 - 3
21-45092198-G-A c.223G>A p.A75T Missense 3/16 - 1
21-45092198-GC-CA c.223_224delinsCA p.A75H Missense 3/16 - 1
21-45092205-CC-GG c.230_231inv p.T77R Missense 3/16 - 1
21-45092212-A-C c.237A>C p.A79= Synonymous 3/16 - 1
21-45092212-A-G c.237A>G p.A79= Synonymous 3/16 - 1
21-45092212-A-T c.237A>T p.A79= Synonymous 3/16 - 1
21-45092215-G-C c.240G>C p.Q80H Missense 3/16 - 1
21-45092215-G-T c.240G>T p.Q80H Missense 3/16 - 2
21-45092218-A-G c.243A>G p.L81= Synonymous 3/16 - 1
21-45092219-G-C c.244G>C p.V82L Missense 3/16 - 1
21-45092222-C-G c.247C>G p.H83D Missense 3/16 - 1
21-45092222-C-T c.247C>T p.H83Y Missense 3/16 - 1
21-45092223-A-C c.248A>C p.H83P Missense 3/16 - 1
21-45092223-A-G c.248A>G p.H83R Missense 3/16 - 1
21-45092228-GTT-ATG c.253_255delinsATG p.V85M Missense 3/16 - 2
21-45092232-A-G c.257A>G p.N86S Missense 3/16 - 3
21-45092240-G-A c.265G>A p.A89T Missense 3/16 - 2
21-45092241-C-T c.266C>T p.A89V Missense 3/16 - 2
21-45092246-C-A c.271C>A p.Q91K Missense 3/16 - 1
21-45092246-C-T c.271C>T p.Q91* Nonsense 3/16 - 2
21-45092247-G-A c.271+1G>A - IntronicSNV - 3/15 1
21-45092257-T-A c.271+11T>A - IntronicSNV - 3/15 9
21-45092653-A-G c.271+407A>G - IntronicSNV - 3/15 1
21-45093754-A-C c.275A>C p.H92P Missense 4/16 - 1
21-45093756-C-A c.277C>A p.L93M Missense 4/16 - 1
21-45093756-C-G c.277C>G p.L93V Missense 4/16 - 1
21-45093762-A-G c.283A>G p.I95V Missense 4/16 - 1
21-45093783-A-G c.304A>G p.M102V Missense 4/16 - 1
21-45093786-A-G c.307A>G p.N103D Missense 4/16 - 1
21-45093788-T-C c.309T>C p.N103= Synonymous 4/16 - 1
21-45093789-C-T c.310C>T p.R104* Nonsense 4/16 - 2
21-45093790-G-A c.311G>A p.R104Q Missense 4/16 - 2
21-45093790-G-T c.311G>T p.R104L Missense 4/16 - 1
21-45093792-G-A c.313G>A p.E105K Missense 4/16 - 3
21-45093795-T-G c.316T>G p.W106G Missense 4/16 - 1
21-45093797-G-C c.318G>C p.W106C Missense 4/16 - 1
21-45093798-A-G c.319A>G p.K107E Missense 4/16 - 2
21-45093800-A-C c.321A>C p.K107N Missense 4/16 - 2
21-45093800-A-T c.321A>T p.K107N Missense 4/16 - 1
21-45093801-G-A c.322G>A p.G108R Missense 4/16 - 1
21-45093802-G-A c.323G>A p.G108E Missense 4/16 - 1
21-45093811-G-A c.332G>A p.R111K Missense 4/16 - 1
21-45093813-C-T c.334C>T p.L112= Synonymous 4/16 - 1
21-45093815-A-C c.336A>C p.L112= Synonymous 4/16 - 1
21-45093815-A-G c.336A>G p.L112= Synonymous 4/16 - 1
21-45093815-A-T c.336A>T p.L112= Synonymous 4/16 - 1
21-45093817-G-A c.338G>A p.R113H Missense 4/16 - 2
21-45093818-C-T c.339C>T p.R113= Synonymous 4/16 - 1
21-45093819-CTG-TTT c.340_342delinsTTT p.L114F Missense 4/16 - 2
21-45093822-G-C c.343G>C p.D115H Missense 4/16 - 1
21-45093841-G-A c.357+5G>A - IntronicSNV - 4/15 1
21-45094465-T-TC c.358-50dup - IntronicInsertion - 4/15 1
21-45094509-T-A c.358-8T>A - IntronicSNV - 4/15 1
21-45094517-C-A c.358C>A p.L120M Missense 5/16 - 2
21-45094519-GA-TT c.360_361delinsTT p.I121F Missense 5/16 - 1
21-45094520-A-T c.361A>T p.I121F Missense 5/16 - 2
21-45094523-C-A c.364C>A p.R122S Missense 5/16 - 1
21-45094523-CG-TT c.364_365delinsTT p.R122F Missense 5/16 - 1
21-45094523-C-T c.364C>T p.R122C Missense 5/16 - 11
21-45094524-G-A c.365G>A p.R122H Missense 5/16 - 2
21-45094526-C-T c.367C>T p.L123= Synonymous 5/16 - 1
21-45094535-A-G c.376A>G p.R126G Missense 5/16 - 1
21-45094543-C-A c.384C>A p.S128= Synonymous 5/16 - 1
21-45094543-C-G c.384C>G p.S128= Synonymous 5/16 - 1
21-45094543-C-T c.384C>T p.S128= Synonymous 5/16 - 4
21-45094547-G-C c.388G>C p.E130Q Missense 5/16 - 1
21-45094559-C-T c.400C>T p.R134* Nonsense 5/16 - 1
21-45094560-G-A c.401G>A p.R134Q Missense 5/16 - 5
21-45094561-A-AT c.402_403insT p.N135* Nonsense 5/16 - 1
21-45094567-C-T c.408C>T p.G136= Synonymous 5/16 - 1
21-45094576-A-T c.417A>T p.E139D Missense 5/16 - 1
21-45094577-AG-TT c.418_419delinsTT p.S140F Missense 5/16 - 1
21-45094582-A-T c.419+4A>T - IntronicSNV - 5/15 1
21-45094587-A-T c.419+9A>T - IntronicSNV - 5/15 1
21-45094677-G-A c.419+99G>A - IntronicSNV - 5/15 1
21-45094833-G-A c.420-82G>A - IntronicSNV - 5/15 1
21-45094921-C-G c.426C>G p.I142M Missense 6/16 - 1
21-45094927-T-A c.432T>A p.V144= Synonymous 6/16 - 1
21-45094927-T-C c.432T>C p.V144= Synonymous 6/16 - 1
21-45094927-T-G c.432T>G p.V144= Synonymous 6/16 - 1
21-45094931-T-G c.436T>G p.L146V Missense 6/16 - 1
21-45094936-T-C c.441T>C p.D147= Synonymous 6/16 - 1
21-45094937-G-C c.442G>C p.V148L Missense 6/16 - 1
21-45094942-G-T c.447G>T p.L149= Synonymous 6/16 - 1
21-45094945-G-A c.450G>A p.M150I Missense 6/16 - 1
21-45094945-G-C c.450G>C p.M150I Missense 6/16 - 1
21-45094945-G-T c.450G>T p.M150I Missense 6/16 - 1
21-45094947-A-C c.452A>C p.K151T Missense 6/16 - 1
21-45094950-A-T c.455A>T p.E152V Missense 6/16 - 2
21-45094952-G-C c.457G>C p.V153L Missense 6/16 - 1
21-45094958-T-C c.463T>C p.C155R Missense 6/16 - 1
21-45094964-G-A c.469G>A p.E157K Missense 6/16 - 2
21-45094964-G-C c.469G>C p.E157Q Missense 6/16 - 1
21-45094966-G-A c.471G>A p.E157= Synonymous 6/16 - 1
21-45094976-CC-TT c.481_482delinsTT p.P161F Missense 6/16 - 1
21-45094982-G-A c.487G>A p.G163R Missense 6/16 - 2
21-45094982-G-C c.487G>C p.G163R Missense 6/16 - 1
21-45094983-G-A c.488G>A p.G163E Missense 6/16 - 1
21-45094983-G-T c.488G>T p.G163V Missense 6/16 - 1
21-45094985-G-A c.490G>A p.V164M Missense 6/16 - 1
21-45094989-G-C c.494G>C p.R165T Missense 6/16 - 1
21-45094990-GA-G c.495del p.R165Sfs*21 Frameshift 6/16 - 1
21-45094993-C-T c.498C>T p.F166= Synonymous 6/16 - 2
21-45094994-C-A c.499C>A p.H167N Missense 6/16 - 3
21-45094994-C-T c.499C>T p.H167Y Missense 6/16 - 2
21-45094999-C-A c.504C>A p.F168L Missense 6/16 - 1
21-45094999-C-T c.504C>T p.F168= Synonymous 6/16 - 2
21-45095000-A-G c.505A>G p.I169V Missense 6/16 - 2
21-45095003-G-A c.508G>A p.D170N Missense 6/16 - 1
21-45095004-A-T c.509A>T p.D170V Missense 6/16 - 1
21-45095015-G-A c.520G>A p.D174N Missense 6/16 - 1
21-45095020-A-G c.525A>G p.E175= Synonymous 6/16 - 1
21-45095030-G-A c.535G>A p.V179I Missense 6/16 - 1
21-45095030-G-C c.535G>C p.V179L Missense 6/16 - 1
21-45095032-C-T c.537C>T p.V179= Synonymous 6/16 - 1
21-45095033-G-A c.538G>A p.G180R Missense 6/16 - 1
21-45095034-G-T c.539G>T p.G180V Missense 6/16 - 1
21-45095037-G-A c.542G>A p.G181E Missense 6/16 - 2
21-45095037-G-T c.542G>T p.G181V Missense 6/16 - 3
21-45095032-C-CG c.543dup p.K182Efs*48 Frameshift 6/16 - 2
21-45095032-CG-C c.543del p.K182Rfs*4 Frameshift 6/16 - 1
21-45095038-GA-G c.545del p.K182Rfs*4 Frameshift 6/16 - 3
21-45096116-G-A c.550-37G>A - IntronicSNV - 6/15 1
21-45096116-G-T c.550-37G>T - IntronicSNV - 6/15 1
21-45096153-C-A c.550C>A p.L184I Missense 7/16 - 1
21-45096162-G-A c.559G>A p.D187N Missense 7/16 - 1
21-45096162-G-T c.559G>T p.D187Y Missense 7/16 - 1
21-45096164-T-C c.561T>C p.D187= Synonymous 7/16 - 1
21-45096171-C-T c.568C>T p.L190F Missense 7/16 - 3
21-45096175-A-G c.572A>G p.K191R Missense 7/16 - 1
21-45096182-C-T c.579C>T p.I193= Synonymous 7/16 - 3
21-45096201-G-A c.598G>A p.A200T Missense 7/16 - 2
21-45096202-C-T c.599C>T p.A200V Missense 7/16 - 1
21-45096204-G-T c.601G>T p.A201S Missense 7/16 - 1
21-45096206-G-A c.603G>A p.A201= Synonymous 7/16 - 20
21-45096206-G-C c.603G>C p.A201= Synonymous 7/16 - 15
21-45096206-G-T c.603G>T p.A201= Synonymous 7/16 - 15
21-45096208-A-G c.605A>G p.K202R Missense 7/16 - 1
21-45096211-C-T c.608C>T p.T203M Missense 7/16 - 1
21-45096215-G-C c.612G>C p.K204N Missense 7/16 - 1
21-45096215-G-T c.612G>T p.K204N Missense 7/16 - 1
21-45096216-G-T c.613G>T p.D205Y Missense 7/16 - 2
21-45096627-C-T c.628C>T p.Q210* Nonsense 8/16 - 2
21-45096633-A-C c.634A>C p.I212L Missense 8/16 - 1
21-45096637-C-T c.638C>T p.A213V Missense 8/16 - 1
21-45096643-G-C c.644G>C p.G215A Missense 8/16 - 1
21-45096644-T-A c.645T>A p.G215= Synonymous 8/16 - 1
21-45096644-T-C c.645T>C p.G215= Synonymous 8/16 - 1
21-45096644-T-G c.645T>G p.G215= Synonymous 8/16 - 1
21-45096647-C-A c.648C>A p.V216= Synonymous 8/16 - 1
21-45096650-C-T c.651C>T p.F217= Synonymous 8/16 - 3
21-45096658-TC-AA c.659_660delinsAA p.I220K Missense 8/16 - 1
21-45096658-TC-AG c.659_660delinsAG p.I220K Missense 8/16 - 3
21-45096659-C-A c.660C>A p.I220= Synonymous 8/16 - 2
21-45096659-C-T c.660C>T p.I220= Synonymous 8/16 - 2
21-45096660-G-A c.661G>A p.V221I Missense 8/16 - 3
21-45096660-G-C c.661G>C p.V221L Missense 8/16 - 1
21-45096660-G-T c.661G>T p.V221L Missense 8/16 - 1
21-45096663-G-A c.664G>A p.D222N Missense 8/16 - 2
21-45096663-G-T c.664G>T p.D222Y Missense 8/16 - 1
21-45096672-C-T c.673C>T p.P225S Missense 8/16 - 1
21-45096680-G-A c.681G>A p.V227= Synonymous 8/16 - 1
21-45096680-G-C c.681G>C p.V227= Synonymous 8/16 - 1
21-45096680-G-T c.681G>T p.V227= Synonymous 8/16 - 1
21-45096683-T-C c.684T>C p.P228= Synonymous 8/16 - 1
21-45096684-G-A c.685G>A p.E229K Missense 8/16 - 1
21-45096689-G-C c.690G>C p.E230D Missense 8/16 - 1
21-45096691-C-T c.692C>T p.T231M Missense 8/16 - 7
21-45096699-G-T c.700G>T p.E234* Nonsense 8/16 - 1
21-45096702-C-T c.703C>T p.Q235* Nonsense 8/16 - 1
21-45096703-A-G c.704A>G p.Q235R Missense 8/16 - 2
21-45096704-G-A c.705G>A p.Q235= Synonymous 8/16 - 1
21-45096707-G-C c.708G>C p.K236N Missense 8/16 - 1
21-45096708-A-G c.709A>G p.T237A Missense 8/16 - 1
21-45096709-C-T c.710C>T p.T237I Missense 8/16 - 2
21-45096713-A-G c.714A>G p.K238= Synonymous 8/16 - 1
21-45096723-G-A c.724G>A p.G242S Missense 8/16 - 1
21-45096733-C-T c.734C>T p.S245F Missense 8/16 - 3
21-45096735-G-C c.736G>C p.A246P Missense 8/16 - 1
21-45096738-G-A c.739G>A p.E247K Missense 8/16 - 2
21-45096741-G-T c.742G>T p.E248* Nonsense 8/16 - 1
21-45096750-G-A c.751G>A p.E251K Missense 8/16 - 1
21-45096750-G-C c.751G>C p.E251Q Missense 8/16 - 1
21-45096752-A-C c.753A>C p.E251D Missense 8/16 - 1
21-45096752-A-T c.753A>T p.E251D Missense 8/16 - 1
21-45096754-A-G c.755A>G p.N252S Missense 8/16 - 1
21-45096756-G-A c.757G>A p.E253K Missense 8/16 - 1
21-45096767-G-A c.768G>A p.L256= Synonymous 8/16 - 1
21-45096771-AGA-CAT c.772_774delinsCAT p.R258H Missense 8/16 - 1
21-45096774-G-T c.775G>T p.A259S Missense 8/16 - 1
21-45096775-C-T c.776C>T p.A259V Missense 8/16 - 6
21-45096779-C-A c.780C>A p.V260= Synonymous 8/16 - 1
21-45096779-C-G c.780C>G p.V260= Synonymous 8/16 - 1
21-45096779-C-T c.780C>T p.V260= Synonymous 8/16 - 1
21-45096794-A-G c.795A>G p.T265= Synonymous 8/16 - 1
21-45097562-T-A c.796+767T>A - IntronicSNV - 8/15 1
21-45098046-CT-C c.796+1261del - IntronicDeletion - 8/15 1
21-45103043-C-T c.797-117C>T - IntronicSNV - 8/15 1
21-45103160-C-T c.797C>T p.A266V Missense 9/16 - 1
21-45103166-G-A c.803G>A p.G268D Missense 9/16 - 1
21-45103166-G-C c.803G>C p.G268A Missense 9/16 - 1
21-45103178-C-T c.815C>T p.S272F Missense 9/16 - 2
21-45103181-G-A c.818G>A p.R273K Missense 9/16 - 1
21-45103204-A-G c.841A>G p.R281G Missense 9/16 - 1
21-45103207-G-A c.844G>A p.G282R Missense 9/16 - 1
21-45103207-G-C c.844G>C p.G282R Missense 9/16 - 1
21-45103210-AGA-TGT c.847_849delinsTGT p.R283C Missense 9/16 - 1
21-45103209-AAG-A c.850_851del p.D284* Frameshift 9/16 - 1
21-45103214-A-T c.851A>T p.D284V Missense 9/16 - 1
21-45103216-G-C c.853G>C p.D285H Missense 9/16 - 2
21-45103218-C-T c.855C>T p.D285= Synonymous 9/16 - 4
21-45103219-T-A c.856T>A p.C286S Missense 9/16 - 1
21-45103223-G-T c.860G>T p.G287V Missense 9/16 - 1
21-45103227-C-A c.864C>A p.T288= Synonymous 9/16 - 1
21-45103231-G-A c.868G>A p.E290K Missense 9/16 - 2
21-45103242-G-A c.879G>A p.G293= Synonymous 9/16 - 1
21-45103242-G-C c.879G>C p.G293= Synonymous 9/16 - 1
21-45103242-G-T c.879G>T p.G293= Synonymous 9/16 - 1
21-45103245-C-A c.882C>A p.P294= Synonymous 9/16 - 1
21-45103245-C-G c.882C>G p.P294= Synonymous 9/16 - 1
21-45103245-C-T c.882C>T p.P294= Synonymous 9/16 - 1
21-45103246-CT-AG c.883_884inv p.L295S Missense 9/16 - 1
21-45103247-T-G c.884T>G p.L295R Missense 9/16 - 3
21-45103254-G-A c.891G>A p.Q297= Synonymous 9/16 - 1
21-45103517-G-A c.891+263G>A - IntronicSNV - 9/15 1
21-45104174-G-A c.892-260G>A - IntronicSNV - 9/15 1
21-45104177-G-A c.892-257G>A - IntronicSNV - 9/15 1
21-45104443-TAAGGCTG-T c.901_907del p.K301Lfs*8 Frameshift 10/16 - 1
21-45104444-A-G c.902A>G p.K301R Missense 10/16 - 1
21-45104448-T-A c.906T>A p.A302= Synonymous 10/16 - 1
21-45104448-T-C c.906T>C p.A302= Synonymous 10/16 - 1
21-45104448-T-G c.906T>G p.A302= Synonymous 10/16 - 1
21-45104453-C-T c.911C>T p.A304V Missense 10/16 - 1
21-45104456-A-T c.914A>T p.D305V Missense 10/16 - 2
21-45104458-C-T c.916C>T p.R306* Nonsense 10/16 - 1
21-45104459-G-A c.917G>A p.R306Q Missense 10/16 - 2
21-45104472-G-A c.930G>A p.M310I Missense 10/16 - 1
21-45104472-G-C c.930G>C p.M310I Missense 10/16 - 1
21-45104472-G-T c.930G>T p.M310I Missense 10/16 - 1
21-45104474-C-T c.932C>T p.T311I Missense 10/16 - 1
21-45104485-A-G c.943A>G p.N315D Missense 10/16 - 1
21-45104489-C-G c.947C>G p.T316R Missense 10/16 - 1
21-45104491-C-T c.949C>T p.P317S Missense 10/16 - 1
21-45104493-C-T c.951C>T p.P317= Synonymous 10/16 - 3
21-45104496-C-T c.954C>T p.H318= Synonymous 10/16 - 3
21-45104510-G-A c.968G>A p.R323H Missense 10/16 - 3
21-45104510-G-T c.968G>T p.R323L Missense 10/16 - 1
21-45104515-TC-AA c.973_974delinsAA p.S325N Missense 10/16 - 1
21-45104516-C-G c.974C>G p.S325C Missense 10/16 - 3
21-45104517-C-T c.975C>T p.S325= Synonymous 10/16 - 2
21-45104523-C-T c.981C>T p.L327= Synonymous 10/16 - 2
21-45104527-A-T c.985A>T p.K329* Nonsense 10/16 - 1
21-45104531-A-T c.989A>T p.K330I Missense 10/16 - 3
21-45105667-G-A c.1006G>A p.E336K Missense 11/16 - 1
21-45105672-T-C c.1009+2T>C - IntronicSNV - 11/15 1
21-45105896-GGAGTCTAA-G c.1009+230_1009+237del - IntronicDeletion - 11/15 1
21-45106572-C-A c.1010-113C>A - IntronicSNV - 11/15 1
21-45106572-C-T c.1010-113C>T - IntronicSNV - 11/15 1
21-45106690-A-C c.1015A>C p.S339R Missense 12/16 - 1
21-45106692-T-A c.1017T>A p.S339R Missense 12/16 - 1
21-45106692-T-G c.1017T>G p.S339R Missense 12/16 - 1
21-45106693-A-G c.1018A>G p.I340V Missense 12/16 - 7
21-45106694-T-C c.1019T>C p.I340T Missense 12/16 - 1
21-45106695-A-G c.1020A>G p.I340M Missense 12/16 - 3
21-45106704-C-A c.1029C>A p.L343= Synonymous 12/16 - 1
21-45106704-C-G c.1029C>G p.L343= Synonymous 12/16 - 1
21-45106704-C-T c.1029C>T p.L343= Synonymous 12/16 - 1
21-45106705-A-G c.1030A>G p.S344G Missense 12/16 - 1
21-45106706-G-C c.1031G>C p.S344T Missense 12/16 - 1
21-45106710-T-C c.1035T>C p.F345= Synonymous 12/16 - 1
21-45106712-C-T c.1037C>T p.A346V Missense 12/16 - 1
21-45106713-G-A c.1038G>A p.A346= Synonymous 12/16 - 1
21-45106713-G-C c.1038G>C p.A346= Synonymous 12/16 - 1
21-45106713-G-T c.1038G>T p.A346= Synonymous 12/16 - 1
21-45106717-G-A c.1042G>A p.D348N Missense 12/16 - 1
21-45106717-G-C c.1042G>C p.D348H Missense 12/16 - 1
21-45106725-T-A c.1050T>A p.S350= Synonymous 12/16 - 1
21-45106725-T-C c.1050T>C p.S350= Synonymous 12/16 - 1
21-45106725-T-G c.1050T>G p.S350= Synonymous 12/16 - 1
21-45106729-G-T c.1054G>T p.D352Y Missense 12/16 - 2
21-45106731-T-A c.1056T>A p.D352E Missense 12/16 - 1
21-45106731-T-G c.1056T>G p.D352E Missense 12/16 - 1
21-45106735-G-A c.1060G>A p.D354N Missense 12/16 - 1
21-45106741-C-T c.1066C>T p.Q356* Nonsense 12/16 - 1
21-45106743-A-G c.1068A>G p.Q356= Synonymous 12/16 - 1
21-45106744-A-G c.1069A>G p.I357V Missense 12/16 - 1
21-45106753-C-A c.1078C>A p.Q360K Missense 12/16 - 1
21-45106756-G-T c.1081G>T p.G361* Nonsense 12/16 - 1
21-45106763-A-G c.1088A>G p.H363R Missense 12/16 - 1
21-45106769-A-G c.1094A>G p.K365R Missense 12/16 - 1
21-45106777-A-C c.1102A>C p.N368H Missense 12/16 - 1
21-45106780-A-G c.1105A>G p.K369E Missense 12/16 - 1
21-45106786-T-G c.1111T>G p.L371V Missense 12/16 - 8
21-45106789-G-C c.1114G>C p.E372Q Missense 12/16 - 1
21-45106792-A-G c.1117A>G p.K373E Missense 12/16 - 1
21-45106812-G-C c.1137G>C p.E379D Missense 12/16 - 1
21-45106812-G-T c.1137G>T p.E379D Missense 12/16 - 1
21-45107285-C-G c.1142-112C>G - IntronicSNV - 12/15 4
21-45107398-A-G c.1143A>G p.G381= Synonymous 13/16 - 1
21-45107407-C-A c.1152C>A p.V384= Synonymous 13/16 - 1
21-45107408-T-C c.1153T>C p.F385L Missense 13/16 - 1
21-45107410-T-A c.1155T>A p.F385L Missense 13/16 - 1
21-45107410-T-G c.1155T>G p.F385L Missense 13/16 - 1
21-45107417-G-A c.1162G>A p.E388K Missense 13/16 - 2
21-45107417-G-C c.1162G>C p.E388Q Missense 13/16 - 1
21-45107423-G-A c.1168G>A p.E390K Missense 13/16 - 1
21-45107426-G-GA c.1172dup p.D391Efs*3 Frameshift 13/16 - 1
21-45107430-G-C c.1175G>C p.S392T Missense 13/16 - 1
21-45107435-A-C c.1180A>C p.S394R Missense 13/16 - 1
21-45107437-C-A c.1182C>A p.S394R Missense 13/16 - 1
21-45107437-C-G c.1182C>G p.S394R Missense 13/16 - 1
21-45107441-C-T c.1186C>T p.L396F Missense 13/16 - 6
21-45107444-C-G c.1189C>G p.Q397E Missense 13/16 - 2
21-45107444-C-T c.1189C>T p.Q397* Nonsense 13/16 - 4
21-45107456-A-C c.1201A>C p.R401= Synonymous 13/16 - 2
21-45107456-AGG-TGT c.1201_1203delinsTGT p.R401C Missense 13/16 - 1
21-45107457-GGAA-G c.1216_1218del p.K406del InFrameDeletion 13/16 - 1
21-45107471-A-C c.1216A>C p.K406Q Missense 13/16 - 1
21-45107495-C-T c.1240C>T p.P414S Missense 13/16 - 4
21-45107497-A-T c.1242A>T p.P414= Synonymous 13/16 - 1
21-45107506-G-A c.1251G>A p.G417= Synonymous 13/16 - 5
21-45107506-G-C c.1251G>C p.G417= Synonymous 13/16 - 1
21-45107506-G-T c.1251G>T p.G417= Synonymous 13/16 - 2
21-45107508-G-C c.1253G>C p.G418A Missense 13/16 - 1
21-45107509-T-A c.1254T>A p.G418= Synonymous 13/16 - 1
21-45107509-T-C c.1254T>C p.G418= Synonymous 13/16 - 2
21-45107509-T-G c.1254T>G p.G418= Synonymous 13/16 - 1
21-45107510-G-C c.1255G>C p.A419P Missense 13/16 - 1
21-45107517-C-T c.1262C>T p.P421L Missense 13/16 - 5
21-45107518-A-C c.1263A>C p.P421= Synonymous 13/16 - 1
21-45107518-A-G c.1263A>G p.P421= Synonymous 13/16 - 19
21-45107518-A-T c.1263A>T p.P421= Synonymous 13/16 - 1
21-45107520-C-T c.1265C>T p.S422F Missense 13/16 - 1
21-45107521-C-A c.1266C>A p.S422= Synonymous 13/16 - 2
21-45107521-C-G c.1266C>G p.S422= Synonymous 13/16 - 2
21-45107521-C-T c.1266C>T p.S422= Synonymous 13/16 - 3
21-45107523-T-A c.1268T>A p.L423Q Missense 13/16 - 1
21-45107525-G-T c.1270G>T p.E424* Nonsense 13/16 - 1
21-45107534-C-A c.1279C>A p.R427= Synonymous 13/16 - 1
21-45107534-C-G c.1279C>G p.R427G Missense 13/16 - 1
21-45107536-G-A c.1281G>A p.R427= Synonymous 13/16 - 1
21-45107536-G-C c.1281G>C p.R427= Synonymous 13/16 - 1
21-45107536-G-T c.1281G>T p.R427= Synonymous 13/16 - 1
21-45107540-AG-CA c.1285_1286delinsCA p.R429Q Missense 13/16 - 1
21-45107544-A-G c.1289A>G p.E430G Missense 13/16 - 1
21-45107549-G-A c.1294G>A p.E432K Missense 13/16 - 1
21-45107553-C-T c.1298C>T p.A433V Missense 13/16 - 1
21-45107555-T-C c.1300T>C p.S434P Missense 13/16 - 1
21-45107556-C-G c.1301C>G p.S434C Missense 13/16 - 1
21-45107558-GG-AC c.1303_1304delinsAC p.G435T Missense 13/16 - 1
21-45107559-G-C c.1304G>C p.G435A Missense 13/16 - 1
21-45107562-T-C c.1307T>C p.L436P Missense 13/16 - 45
21-45107561-C-T c.1306C>T p.L436= Synonymous 13/16 - 5
21-45107563-G-A c.1308G>A p.L436= Synonymous 13/16 - 6
21-45107563-G-C c.1308G>C p.L436= Synonymous 13/16 - 5
21-45107563-G-T c.1308G>T p.L436= Synonymous 13/16 - 5
21-45107576-G-A c.1321G>A p.A441T Missense 13/16 - 1
21-45107579-C-T c.1324C>T p.R442C Missense 13/16 - 1
21-45107587-C-A c.1332C>A p.A444= Synonymous 13/16 - 1
21-45107587-C-G c.1332C>G p.A444= Synonymous 13/16 - 1
21-45107587-C-T c.1332C>T p.A444= Synonymous 13/16 - 1
21-45107597-G-A c.1342G>A p.A448T Missense 13/16 - 1
21-45107598-C-T c.1343C>T p.A448V Missense 13/16 - 1
21-45107603-G-A c.1348G>A p.A450T Missense 13/16 - 1
21-45107604-C-T c.1349C>T p.A450V Missense 13/16 - 1
21-45107606-ACG-TGT c.1351_1353delinsTGT p.T451C Missense 13/16 - 1
21-45107617-T-A c.1362T>A p.T454= Synonymous 13/16 - 1
21-45107617-T-C c.1362T>C p.T454= Synonymous 13/16 - 1
21-45107617-T-G c.1362T>G p.T454= Synonymous 13/16 - 1
21-45107619-G-A c.1364G>A p.G455E Missense 13/16 - 1
21-45107624-G-T c.1369G>T p.E457* Nonsense 13/16 - 1
21-45107634-C-T c.1379C>T p.S460F Missense 13/16 - 1
21-45107636-G-C c.1381G>C p.E461Q Missense 13/16 - 1
21-45107639-C-A c.1384C>A p.H462N Missense 13/16 - 1
21-45107642-C-T c.1387C>T p.P463S Missense 13/16 - 2
21-45107643-C-T c.1388C>T p.P463L Missense 13/16 - 4
21-45107646-C-T c.1391C>T p.P464L Missense 13/16 - 1
21-45107649-C-G c.1394C>G p.A465G Missense 13/16 - 1
21-45107651-G-A c.1396G>A p.V466I Missense 13/16 - 2
21-45107676-G-A c.1421G>A p.R474Q Missense 13/16 - 1
21-45107681-CG-AA c.1426_1427delinsAA p.R476K Missense 13/16 - 1
21-45107681-C-T c.1426C>T p.R476W Missense 13/16 - 1
21-45107682-G-A c.1427G>A p.R476Q Missense 13/16 - 5
21-45107682-G-T c.1427G>T p.R476L Missense 13/16 - 2
21-45107685-A-C c.1430A>C p.K477T Missense 13/16 - 3
21-45107694-C-T c.1439C>T p.P480L Missense 13/16 - 3
21-45107700-C-T c.1445C>T p.A482V Missense 13/16 - 2
21-45107701-C-T c.1446C>T p.A482= Synonymous 13/16 - 1
21-45107702-C-T c.1447C>T p.H483Y Missense 13/16 - 1
21-45107710-A-C c.1455A>C p.E485D Missense 13/16 - 1
21-45107710-A-T c.1455A>T p.E485D Missense 13/16 - 2
21-45107723-G-A c.1468G>A p.A490T Missense 13/16 - 1
21-45107724-C-T c.1469C>T p.A490V Missense 13/16 - 1
21-45107738-G-C c.1483G>C p.E495Q Missense 13/16 - 1
21-45107740-G-A c.1485G>A p.E495= Synonymous 13/16 - 1
21-45107740-G-T c.1485G>T p.E495D Missense 13/16 - 1
21-45107741-G-A c.1486G>A p.D496N Missense 13/16 - 1
21-45107744-A-G c.1489A>G p.M497V Missense 13/16 - 2
21-45107751-A-G c.1496A>G p.Q499R Missense 13/16 - 1
21-45107752-G-C c.1497G>C p.Q499H Missense 13/16 - 1
21-45107752-G-T c.1497G>T p.Q499H Missense 13/16 - 1
21-45107759-C-T c.1504C>T p.P502S Missense 13/16 - 3
21-45107760-C-T c.1505C>T p.P502L Missense 13/16 - 1
21-45107764-T-C c.1509T>C p.S503= Synonymous 13/16 - 1
21-45107766-G-A c.1511G>A p.G504D Missense 13/16 - 3
21-45107772-A-G c.1517A>G p.H506R Missense 13/16 - 1
21-45107773-T-C c.1518T>C p.H506= Synonymous 13/16 - 1
21-45107777-C-T c.1522C>T p.Q508* Nonsense 13/16 - 2
21-45107778-A-G c.1523A>G p.Q508R Missense 13/16 - 1
21-45107781-G-A c.1526G>A p.G509E Missense 13/16 - 1
21-45107790-G-C c.1535G>C p.G512A Missense 13/16 - 1
21-45107794-C-A c.1539C>A p.S513= Synonymous 13/16 - 1
21-45107794-C-G c.1539C>G p.S513= Synonymous 13/16 - 1
21-45107794-C-T c.1539C>T p.S513= Synonymous 13/16 - 1
21-45107795-C-T c.1540C>T p.P514S Missense 13/16 - 3
21-45107796-C-T c.1541C>T p.P514L Missense 13/16 - 6
21-45107798-A-G c.1543A>G p.T515A Missense 13/16 - 1
21-45107800-A-T c.1545A>T p.T515= Synonymous 13/16 - 2
21-45107808-C-A c.1553C>A p.A518D Missense 13/16 - 1
21-45107808-C-T c.1553C>T p.A518V Missense 13/16 - 1
21-45107813-C-A c.1558C>A p.L520I Missense 13/16 - 2
21-45107823-G-T c.1568G>T p.R523M Missense 13/16 - 1
21-45107830-G-T c.1575G>T p.R525= Synonymous 13/16 - 1
21-45107829-GG-AT c.1574_1575delinsAT p.R525H Missense 13/16 - 1
21-45107830-G-A c.1575G>A p.R525= Synonymous 13/16 - 1
21-45107837-G-A c.1582G>A p.G528R Missense 13/16 - 2
21-45107837-G-C c.1582G>C p.G528R Missense 13/16 - 2
21-45107838-G-C c.1583G>C p.G528A Missense 13/16 - 1
21-45107846-C-T c.1591C>T p.P531S Missense 13/16 - 1
21-45107847-C-T c.1592C>T p.P531L Missense 13/16 - 1
21-45107848-C-A c.1593C>A p.P531= Synonymous 13/16 - 1
21-45107848-C-G c.1593C>G p.P531= Synonymous 13/16 - 1
21-45107848-C-T c.1593C>T p.P531= Synonymous 13/16 - 1
21-45107849-G-A c.1594G>A p.V532I Missense 13/16 - 4
21-45107853-A-G c.1598A>G p.N533S Missense 13/16 - 1
21-45107856-G-A c.1601G>A p.G534D Missense 13/16 - 1
21-45107861-G-T c.1606G>T p.G536C Missense 13/16 - 1
21-45107862-G-A c.1607G>A p.G536D Missense 13/16 - 1
21-45107870-ACG-TGT c.1615_1617delinsTGT p.T539C Missense 13/16 - 1
21-45107872-G-A c.1617G>A p.T539= Synonymous 13/16 - 1
21-45107872-G-C c.1617G>C p.T539= Synonymous 13/16 - 1
21-45107872-G-T c.1617G>T p.T539= Synonymous 13/16 - 1
21-45107874-C-T c.1619C>T p.P540L Missense 13/16 - 5
21-45107877-C-T c.1622C>T p.A541V Missense 13/16 - 3
21-45107884-T-G c.1629T>G p.P543= Synonymous 13/16 - 1
21-45107886-C-A c.1631C>A p.P544Q Missense 13/16 - 1
21-45107891-C-T c.1636C>T p.Q546* Nonsense 13/16 - 1
21-45107900-G-A c.1645G>A p.G549S Missense 13/16 - 1
21-45107913-G-C c.1658G>C p.G553A Missense 13/16 - 1
21-45107917-C-T c.1662C>T p.P554= Synonymous 13/16 - 1
21-45107923-G-A c.1668G>A p.E556= Synonymous 13/16 - 2
21-45107925-G-A c.1670G>A p.G557E Missense 13/16 - 3
21-45107927-G-C c.1672G>C p.A558P Missense 13/16 - 1
21-45107938-C-T c.1683C>T p.H561= Synonymous 13/16 - 1
21-45107944-G-T c.1689G>T p.T563= Synonymous 13/16 - 1
21-45107945-C-T c.1690C>T p.L564= Synonymous 13/16 - 1
21-45107947-G-A c.1692G>A p.L564= Synonymous 13/16 - 1
21-45107947-G-C c.1692G>C p.L564= Synonymous 13/16 - 1
21-45107947-G-T c.1692G>T p.L564= Synonymous 13/16 - 1
21-45107950-C-A c.1695C>A p.P565= Synonymous 13/16 - 1
21-45107950-C-G c.1695C>G p.P565= Synonymous 13/16 - 2
21-45107950-C-T c.1695C>T p.P565= Synonymous 13/16 - 1
21-45107951-C-A c.1696C>A p.Q566K Missense 13/16 - 2
21-45107955-G-A c.1700G>A p.R567H Missense 13/16 - 2
21-45107956-C-A c.1701C>A p.R567= Synonymous 13/16 - 1
21-45107956-C-G c.1701C>G p.R567= Synonymous 13/16 - 1
21-45107956-C-T c.1701C>T p.R567= Synonymous 13/16 - 1
21-45107960-AGG-TGT c.1705_1707delinsTGT p.R569C Missense 13/16 - 1
21-45107960-A-T c.1705A>T p.R569W Missense 13/16 - 1
21-45107963-C-A c.1708C>A p.L570M Missense 13/16 - 2
21-45107979-C-G c.1724C>G p.A575G Missense 13/16 - 1
21-45107987-G-A c.1732G>A p.G578S Missense 13/16 - 1
21-45108001-C-G c.1746C>G p.L582= Synonymous 13/16 - 1
21-45108005-G-T c.1750G>T p.G584C Missense 13/16 - 1
21-45108008-C-T c.1753C>T p.L585= Synonymous 13/16 - 1
21-45108014-AG-GC c.1759_1760delinsGC p.S587A Missense 13/16 - 1
21-45108019-G-A c.1764G>A p.Q588= Synonymous 13/16 - 1
21-45108029-A-C c.1774A>C p.S592R Missense 13/16 - 1
21-45108031-T-A c.1776T>A p.S592R Missense 13/16 - 1
21-45108031-T-G c.1776T>G p.S592R Missense 13/16 - 1
21-45108034-G-A c.1779G>A p.L593= Synonymous 13/16 - 2
21-45108038-A-C c.1783A>C p.K595Q Missense 13/16 - 3
21-45108040-G-A c.1785G>A p.K595= Synonymous 13/16 - 1
21-45108044-A-G c.1789A>G p.K597E Missense 13/16 - 1
21-45108046-G-A c.1791G>A p.K597= Synonymous 13/16 - 1
21-45108061-G-A c.1806G>A p.M602I Missense 13/16 - 1
21-45108061-G-C c.1806G>C p.M602I Missense 13/16 - 1
21-45108061-G-T c.1806G>T p.M602I Missense 13/16 - 1
21-45108073-G-A c.1818G>A p.V606= Synonymous 13/16 - 1
21-45108073-G-C c.1818G>C p.V606= Synonymous 13/16 - 1
21-45108073-G-T c.1818G>T p.V606= Synonymous 13/16 - 1
21-45108075-A-G c.1820A>G p.E607G Missense 13/16 - 1
21-45108097-C-T c.1842C>T p.S614= Synonymous 13/16 - 1
21-45108102-C-T c.1847C>T p.A616V Missense 13/16 - 3
21-45108105-GG-AC c.1850_1851delinsAC p.G617D Missense 13/16 - 1
21-45108107-C-A c.1852C>A p.Q618K Missense 13/16 - 1
21-45108107-C-G c.1852C>G p.Q618E Missense 13/16 - 1
21-45108108-A-C c.1853A>C p.Q618P Missense 13/16 - 1
21-45108111-C-T c.1856C>T p.P619L Missense 13/16 - 1
21-45108113-C-A c.1858C>A p.Q620K Missense 13/16 - 1
21-45108117-C-G c.1862C>G p.A621G Missense 13/16 - 2
21-45108574-A-G c.1866+453A>G - IntronicSNV - 13/15 1
21-45109856-T-C c.1867-313T>C - IntronicSNV - 13/15 2
21-45109972-T-C c.1867-197T>C - IntronicSNV - 13/15 2
21-45110170-G-C c.1868G>C p.G623A Missense 14/16 - 1
21-45110185-G-T c.1883G>T p.C628F Missense 14/16 - 1
21-45110187-A-G c.1885A>G p.S629G Missense 14/16 - 1
21-45110191-C-T c.1889C>T p.S630F Missense 14/16 - 1
21-45110192-C-T c.1890C>T p.S630= Synonymous 14/16 - 1
21-45110193-C-G c.1891C>G p.L631V Missense 14/16 - 1
21-45110194-T-C c.1892T>C p.L631P Missense 14/16 - 3
21-45110204-G-A c.1902G>A p.Q634= Synonymous 14/16 - 1
21-45110210-G-A c.1908G>A p.L636= Synonymous 14/16 - 1
21-45110214-G-C c.1912G>C p.A638P Missense 14/16 - 1
21-45110219-G-C c.1917G>C p.E639D Missense 14/16 - 2
21-45110219-G-T c.1917G>T p.E639D Missense 14/16 - 2
21-45110221-G-A c.1919G>A p.S640N Missense 14/16 - 3
21-45110222-C-T c.1920C>T p.S640= Synonymous 14/16 - 1
21-45110223-G-T c.1921G>T p.D641Y Missense 14/16 - 1
21-45110231-G-A c.1929G>A p.V643= Synonymous 14/16 - 1
21-45110236-T-C c.1934T>C p.F645S Missense 14/16 - 1
21-45110242-C-T c.1940C>T p.T647I Missense 14/16 - 4
21-45110245-C-T c.1943C>T p.P648L Missense 14/16 - 3
21-45110261-C-T c.1959C>T p.P653= Synonymous 14/16 - 1
21-45110262-C-A c.1960C>A p.L654M Missense 14/16 - 1
21-45110270-C-T c.1968C>T p.F656= Synonymous 14/16 - 3
21-45110274-AGA-TGT c.1972_1974delinsTGT p.R658C Missense 14/16 - 1
21-45110275-G-C c.1973G>C p.R658T Missense 14/16 - 1
21-45110276-A-T c.1974A>T p.R658S Missense 14/16 - 1
21-45110280-A-G c.1978A>G p.K660E Missense 14/16 - 2
21-45110295-AC-GG c.1993_1994delinsGG p.T665G Missense 14/16 - 1
21-45110299-A-G c.1997A>G p.H666R Missense 14/16 - 1
21-45110299-A-T c.1997A>T p.H666L Missense 14/16 - 1
21-45110301-C-A c.1999C>A p.P667T Missense 14/16 - 1
21-45110302-C-T c.2000C>T p.P667L Missense 14/16 - 1
21-45110316-G-A c.2014G>A p.V672I Missense 14/16 - 4
21-45110319-C-T c.2017C>T p.Q673* Nonsense 14/16 - 1
21-45110784-A-G c.2019+463A>G - IntronicSNV - 14/15 1
21-45111324-A-G c.2024A>G p.N675S Missense 15/16 - 1
21-45111350-G-T c.2050G>T p.V684F Missense 15/16 - 2
21-45111351-T-C c.2051T>C p.V684A Missense 15/16 - 1
21-45111356-TT-GC c.2056_2057delinsGC p.F686A Missense 15/16 - 1
21-45111377-AC-GG c.2077_2078delinsGG p.T693G Missense 15/16 - 1
21-45111378-C-A c.2078C>A p.T693N Missense 15/16 - 2
21-45111378-C-T c.2078C>T p.T693I Missense 15/16 - 1
21-45111381-C-G c.2081C>G p.A694G Missense 15/16 - 1
21-45111382-C-A c.2082C>A p.A694= Synonymous 15/16 - 2
21-45111382-C-G c.2082C>G p.A694= Synonymous 15/16 - 2
21-45111382-C-T c.2082C>T p.A694= Synonymous 15/16 - 2
21-45111383-G-A c.2083G>A p.E695K Missense 15/16 - 5
21-45111518-A-T c.2083+135A>T - IntronicSNV - 15/15 3
21-45111518-TA-T c.2083+135del - IntronicDeletion - 15/15 2
21-45111519-T-A c.2083+136T>A - IntronicSNV - 15/15 4
21-45111520-T-A c.2083+137T>A - IntronicSNV - 15/15 2
21-45111522-T-A c.2083+139T>A - IntronicSNV - 15/15 1
21-45111522-T-C c.2083+139T>C - IntronicSNV - 15/15 1
21-45112939-A-G c.2084-132A>G - IntronicSNV - 15/15 4
21-45113079-A-T c.2092A>T p.K698* Nonsense 16/16 - 1
21-45113090-G-T c.2103G>T p.K701N Missense 16/16 - 1
21-45113091-AG-GA c.2104_2105delinsGA p.S702D Missense 16/16 - 1
21-45113092-G-C c.2105G>C p.S702T Missense 16/16 - 1
21-45113105-T-C c.2118T>C p.S706= Synonymous 16/16 - 1
21-45113109-A-G c.2122A>G p.T708A Missense 16/16 - 1
21-45113110-C-T c.2123C>T p.T708M Missense 16/16 - 4
21-45113111-G-C c.2124G>C p.T708= Synonymous 16/16 - 2
21-45113116-C-G c.2129C>G p.P710R Missense 16/16 - 1
21-45113121-C-T c.2134C>T p.R712* Nonsense 16/16 - 1
21-45113122-G-A c.2135G>A p.R712Q Missense 16/16 - 3
21-45113127-G-A c.2140G>A p.A714T Missense 16/16 - 1
21-45113130-TT-GC c.2143_2144delinsGC p.F715A Missense 16/16 - 1
21-45113136-C-T c.2149C>T p.P717S Missense 16/16 - 1
21-45113139-G-A c.2152G>A p.E718K Missense 16/16 - 1
21-45113153-C-A c.2166C>A p.L722= Synonymous 16/16 - 1
21-45113153-C-G c.2166C>G p.L722= Synonymous 16/16 - 1
21-45113153-C-T c.2166C>T p.L722= Synonymous 16/16 - 1
21-45113157-G-T c.2170G>T p.G724W Missense 16/16 - 1
21-45113158-G-A c.2171G>A p.G724E Missense 16/16 - 1
21-45113163-C-A c.2176C>A p.L726M Missense 16/16 - 1
21-45113163-CTG-ATC c.2176_2178delinsATC p.L726I Missense 16/16 - 1
21-45113164-T-C c.2177T>C p.L726P Missense 16/16 - 1
21-45113163-C-T c.2176C>T p.L726= Synonymous 16/16 - 1
21-45113165-G-A c.2178G>A p.L726= Synonymous 16/16 - 1
21-45113165-G-C c.2178G>C p.L726= Synonymous 16/16 - 2
21-45113165-G-T c.2178G>T p.L726= Synonymous 16/16 - 1
21-45113171-C-A c.2184C>A p.T728= Synonymous 16/16 - 1
21-45113171-C-G c.2184C>G p.T728= Synonymous 16/16 - 1
21-45113171-C-T c.2184C>T p.T728= Synonymous 16/16 - 1
21-45113172-C-T c.2185C>T p.P729S Missense 16/16 - 1
21-45113173-C-T c.2186C>T p.P729L Missense 16/16 - 2
21-45113182-C-T c.2195C>T p.S732L Missense 16/16 - 1
21-45113183-A-C c.2196A>C p.S732= Synonymous 16/16 - 3
21-45113183-A-G c.2196A>G p.S732= Synonymous 16/16 - 1
21-45113183-A-T c.2196A>T p.S732= Synonymous 16/16 - 1
21-45113190-AG-CT c.2203_2204inv p.S735L Missense 16/16 - 1
21-45113195-A-C c.2208A>C p.S736= Synonymous 16/16 - 1
21-45113195-A-G c.2208A>G p.S736= Synonymous 16/16 - 1
21-45113195-A-T c.2208A>T p.S736= Synonymous 16/16 - 1
21-45113196-C-A c.2209C>A p.P737T Missense 16/16 - 1
21-45113197-C-T c.2210C>T p.P737L Missense 16/16 - 1
21-45113199-C-T c.2212C>T p.L738= Synonymous 16/16 - 1
21-45113201-G-A c.2214G>A p.L738= Synonymous 16/16 - 2
21-45113201-G-C c.2214G>C p.L738= Synonymous 16/16 - 1
21-45113201-G-T c.2214G>T p.L738= Synonymous 16/16 - 1
21-45113202-G-C c.2215G>C p.V739L Missense 16/16 - 1
21-45113202-G-T c.2215G>T p.V739L Missense 16/16 - 1
21-45113203-T-A c.2216T>A p.V739E Missense 16/16 - 3
21-45113203-TG-AA c.2216_2217delinsAA p.V739E Missense 16/16 - 1
21-45113215-C-A c.2228C>A p.P743H Missense 16/16 - 1
21-45113215-C-T c.2228C>T p.P743L Missense 16/16 - 3
21-45113223-A-G c.2236A>G p.T746A Missense 16/16 - 1
21-45113233-G-A c.2246G>A p.R749K Missense 16/16 - 2
21-45113236-G-A c.2249G>A p.R750K Missense 16/16 - 1
21-45113238-A-AG c.2253dup p.P752Afs*30 Frameshift 16/16 - 1
21-45113241-C-CG c.2254_2255insG p.P752Rfs*30 Frameshift 16/16 - 1
21-45113258-C-T c.2271C>T p.F757= Synonymous 16/16 - 1
21-45113261-C-T c.2274C>T p.F758= Synonymous 16/16 - 1
21-45113629-C-G c.*365C>G - 3-UTRSNV 16/16 - 4
21-45113902-C-T c.*638C>T - 3-UTRSNV 16/16 - 1
21-45114023-T-C c.*759T>C - 3-UTRSNV 16/16 - 1
21-45114108-A-ACTAC c.*846_*847insACCT - 3-UTRInsertion 16/16 - 2
21-45114961-C-T c.*1697C>T - 3-UTRSNV 16/16 - 2