JAK2 Janus kinase 2

Annotation transcript: NM_004972.4

1260 unique variant annotations were identified in 1126 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
9-4985388-C-T c.-351C>T - 5_prime_UTR_variant 1/25 - 3
9-4985542-T-C c.-197T>C - 5_prime_UTR_variant 1/25 - 1
9-4985879-A-G c.-108-61A>G - intron_variant - 1/24 7
9-4987958-C-T c.-26+1936C>T - intron_variant - 2/24 1
9-4988761-C-T c.-26+2739C>T - intron_variant - 2/24 11
9-4991840-T-C c.-26+5818T>C - intron_variant - 2/24 1
9-4991840-T-G c.-26+5818T>G - intron_variant - 2/24 1
9-4993267-T-C c.-26+7245T>C - intron_variant - 2/24 1
9-4993267-T-G c.-26+7245T>G - intron_variant - 2/24 1
9-4995125-G-A c.-26+9103G>A - intron_variant - 2/24 1
9-4998401-C-T c.-26+12379C>T - intron_variant - 2/24 1
9-4998639-A-C c.-26+12617A>C - intron_variant - 2/24 1
9-4998639-A-G c.-26+12617A>G - intron_variant - 2/24 1
9-4999303-A-G c.-26+13281A>G - intron_variant - 2/24 5
9-5000811-A-G c.-26+14789A>G - intron_variant - 2/24 2
9-5002011-C-T c.-26+15989C>T - intron_variant - 2/24 1
9-5003338-G-A c.-26+17316G>A - intron_variant - 2/24 2
9-5003338-G-C c.-26+17316G>C - intron_variant - 2/24 2
9-5003973-G-T c.-26+17951G>T - intron_variant - 2/24 3
9-5005034-A-T c.-25-16929A>T - IntronicSNV - 2/24 3
9-5005040-T-A c.-25-16923T>A - IntronicSNV - 2/24 1
9-5005040-T-C c.-25-16923T>C - IntronicSNV - 2/24 1
9-5008070-C-A c.-25-13893C>A - IntronicSNV - 2/24 2
9-5008070-C-T c.-25-13893C>T - IntronicSNV - 2/24 2
9-5010192-G-A c.-25-11771G>A - IntronicSNV - 2/24 6
9-5010751-C-A c.-25-11212C>A - IntronicSNV - 2/24 2
9-5014332-G-A c.-25-7631G>A - IntronicSNV - 2/24 2
9-5015732-C-A c.-25-6231C>A - IntronicSNV - 2/24 4
9-5015901-T-A c.-25-6062T>A - IntronicSNV - 2/24 3
9-5015901-T-C c.-25-6062T>C - IntronicSNV - 2/24 3
9-5015901-T-G c.-25-6062T>G - IntronicSNV - 2/24 3
9-5017350-G-A c.-25-4613G>A - IntronicSNV - 2/24 2
9-5021514-A-G c.-25-449A>G - IntronicSNV - 2/24 2
9-5021991-GGA-AGC c.4_6delinsAGC p.G2S Missense 3/25 - 1
9-5021993-A-C c.6A>C p.G2= Synonymous 3/25 - 1
9-5021993-A-G c.6A>G p.G2= Synonymous 3/25 - 1
9-5021993-A-T c.6A>T p.G2= Synonymous 3/25 - 1
9-5021999-C-G c.12C>G p.A4= Synonymous 3/25 - 1
9-5022002-C-T c.15C>T p.C5= Synonymous 3/25 - 4
9-5022016-A-C c.29A>C p.E10A Missense 3/25 - 1
9-5022021-G-A c.34G>A p.E12K Missense 3/25 - 1
9-5022021-G-C c.34G>C p.E12Q Missense 3/25 - 1
9-5022022-A-C c.35A>C p.E12A Missense 3/25 - 2
9-5022025-G-A c.38G>A p.G13E Missense 3/25 - 1
9-5022025-GA-AC c.38_39delinsAC p.G13D Missense 3/25 - 4
9-5022025-G-T c.38G>T p.G13V Missense 3/25 - 1
9-5022030-TCC-GAG c.43_45delinsGAG p.S15E Missense 3/25 - 1
9-5022030-TC-GA c.43_44inv p.S15D Missense 3/25 - 1
9-5022030-T-G c.43T>G p.S15A Missense 3/25 - 3
9-5022031-C-G c.44C>G p.S15C Missense 3/25 - 2
9-5022031-C-T c.44C>T p.S15F Missense 3/25 - 2
9-5022034-C-A c.47C>A p.T16N Missense 3/25 - 1
9-5022036-T-C c.49T>C p.S17P Missense 3/25 - 1
9-5022036-TC-AA c.49_50delinsAA p.S17N Missense 3/25 - 2
9-5022036-TCT-AAG c.49_51delinsAAG p.S17K Missense 3/25 - 1
9-5022036-T-G c.49T>G p.S17A Missense 3/25 - 4
9-5022037-C-G c.50C>G p.S17C Missense 3/25 - 3
9-5022039-TC-GA c.52_53inv p.S18D Missense 3/25 - 1
9-5022039-TC-GG c.52_53delinsGG p.S18G Missense 3/25 - 1
9-5022039-T-G c.52T>G p.S18A Missense 3/25 - 2
9-5022041-T-C c.54T>C p.S18= Synonymous 3/25 - 1
9-5022048-CA-AC c.61_62delinsAC p.Q21T Missense 3/25 - 1
9-5022048-CAG-GAC c.61_63delinsGAC p.Q21D Missense 3/25 - 1
9-5022050-G-C c.63G>C p.Q21H Missense 3/25 - 1
9-5022050-G-T c.63G>T p.Q21H Missense 3/25 - 1
9-5022055-G-T c.68G>T p.G23V Missense 3/25 - 1
9-5022057-GAT-ATG c.70_72delinsATG p.D24M Missense 3/25 - 1
9-5022057-G-C c.70G>C p.D24H Missense 3/25 - 1
9-5022061-T-C c.74T>C p.I25T Missense 3/25 - 1
9-5022061-T-G c.74T>G p.I25S Missense 3/25 - 1
9-5022077-T-C c.90T>C p.N30= Synonymous 3/25 - 1
9-5022091-T-C c.104T>C p.I35T Missense 3/25 - 2
9-5022093-GA-TG c.106_107delinsTG p.D36C Missense 3/25 - 1
9-5022102-CT-GC c.115_116delinsGC p.L39A Missense 3/25 - 4
9-5022103-T-C c.116T>C p.L39P Missense 3/25 - 1
9-5022105-C-T c.118C>T p.Q40* Nonsense 3/25 - 1
9-5022107-G-C c.120G>C p.Q40H Missense 3/25 - 1
9-5022118-A-G c.131A>G p.Y44C Missense 3/25 - 1
9-5022129-G-C c.142G>C p.G48R Missense 3/25 - 1
9-5022132-AA-GC c.145_146delinsGC p.K49A Missense 3/25 - 1
9-5022133-A-C c.146A>C p.K49T Missense 3/25 - 1
9-5022138-G-A c.151G>A p.E51K Missense 3/25 - 1
9-5022142-CA-AC c.155_156delinsAC p.A52D Missense 3/25 - 1
9-5022146-T-A c.159T>A p.D53E Missense 3/25 - 1
9-5022146-T-G c.159T>G p.D53E Missense 3/25 - 1
9-5022150-CTG-TTT c.163_165delinsTTT p.L55F Missense 3/25 - 1
9-5022151-T-C c.164T>C p.L55P Missense 3/25 - 1
9-5022156-T-C c.169T>C p.F57L Missense 3/25 - 2
9-5022158-T-A c.171T>A p.F57L Missense 3/25 - 1
9-5022158-T-G c.171T>G p.F57L Missense 3/25 - 1
9-5022159-CCA-TGT c.172_174delinsTGT p.P58C Missense 3/25 - 1
9-5022159-C-G c.172C>G p.P58A Missense 3/25 - 2
9-5022160-C-A c.173C>A p.P58Q Missense 3/25 - 1
9-5022163-C-A c.176C>A p.S59Y Missense 3/25 - 1
9-5022163-C-G c.176C>G p.S59C Missense 3/25 - 1
9-5022163-C-T c.176C>T p.S59F Missense 3/25 - 1
9-5022166-G-A c.179G>A p.G60E Missense 3/25 - 1
9-5022166-G-T c.179G>T p.G60V Missense 3/25 - 1
9-5022167-G-A c.180G>A p.G60= Synonymous 3/25 - 1
9-5022178-C-A c.191C>A p.A64E Missense 3/25 - 1
9-5022178-CA-AC c.191_192delinsAC p.A64D Missense 3/25 - 2
9-5022178-C-G c.191C>G p.A64G Missense 3/25 - 1
9-5022178-C-T c.191C>T p.A64V Missense 3/25 - 1
9-5022180-G-C c.193G>C p.E65Q Missense 3/25 - 1
9-5022182-A-C c.195A>C p.E65D Missense 3/25 - 1
9-5022183-G-A c.196G>A p.E66K Missense 3/25 - 1
9-5022184-A-G c.197A>G p.E66G Missense 3/25 - 1
9-5022195-GC-TG c.208_209delinsTG p.A70C Missense 3/25 - 1
9-5022196-C-T c.209C>T p.A70V Missense 3/25 - 1
9-5022196-GC-G c.209del p.A70Vfs*18 Frameshift 3/25 - 1
9-5022198-GC-TG c.211_212delinsTG p.A71C Missense 3/25 - 2
9-5022200-T-A c.213T>A p.A71= Synonymous 3/25 - 1
9-5022200-T-C c.213T>C p.A71= Synonymous 3/25 - 1
9-5022200-T-G c.213T>G p.A71= Synonymous 3/25 - 1
9-5022207-GC-TT c.220_221delinsTT p.A74F Missense 3/25 - 1
9-5022212-T-C c.225T>C p.C75= Synonymous 3/25 - 1
9-5022213-G-C c.226G>C p.G76R Missense 3/25 - 1
9-5022216-A-T c.226+3A>T - IntronicSNV - 3/24 1
9-5022807-C-T c.226+594C>T - IntronicSNV - 3/24 2
9-5023441-G-A c.226+1228G>A - IntronicSNV - 3/24 1
9-5023604-A-C c.226+1391A>C - IntronicSNV - 3/24 1
9-5023794-G-T c.226+1581G>T - IntronicSNV - 3/24 1
9-5024427-T-A c.226+2214T>A - IntronicSNV - 3/24 1
9-5026293-A-G c.227-3490A>G - IntronicSNV - 3/24 2
9-5028813-C-T c.227-970C>T - IntronicSNV - 3/24 1
9-5029790-CACCTGT-C c.234_239del p.P79_V80del InFrameDeletion 4/25 - 1
9-5029794-G-A c.238G>A p.V80M Missense 4/25 - 1
9-5029794-GT-AG c.238_239delinsAG p.V80R Missense 4/25 - 1
9-5029795-T-A c.239T>A p.V80E Missense 4/25 - 2
9-5029798-A-T c.242A>T p.Y81F Missense 4/25 - 1
9-5029803-A-T c.247A>T p.N83Y Missense 4/25 - 1
9-5029803-AAT-A c.250_251del p.M84Vfs*6 Frameshift 4/25 - 1
9-5029814-T-C c.258T>C p.A86= Synonymous 4/25 - 1
9-5029821-AG-GC c.265_266delinsGC p.S89A Missense 4/25 - 1
9-5029824-G-A c.268G>A p.E90K Missense 4/25 - 1
9-5029824-GAA-TTT c.268_270delinsTTT p.E90F Missense 4/25 - 1
9-5029828-C-G c.272C>G p.T91R Missense 4/25 - 1
9-5029830-GAA-TTT c.274_276delinsTTT p.E92F Missense 4/25 - 1
9-5029830-G-C c.274G>C p.E92Q Missense 4/25 - 1
9-5029833-AG-TA c.277_278delinsTA p.R93* Nonsense 4/25 - 1
9-5029840-G-C c.284G>C p.W95S Missense 4/25 - 1
9-5029842-T-C c.286T>C p.Y96H Missense 4/25 - 1
9-5029845-C-G c.289C>G p.P97A Missense 4/25 - 1
9-5029849-C-G c.293C>G p.P98R Missense 4/25 - 1
9-5029852-A-G c.296A>G p.N99S Missense 4/25 - 1
9-5029854-C-A c.298C>A p.H100N Missense 4/25 - 1
9-5029857-GT-TG c.301_302delinsTG p.V101C Missense 4/25 - 1
9-5029859-C-CT c.305dup p.H103Pfs*4 Frameshift 4/25 - 1
9-5029863-C-T c.307C>T p.H103Y Missense 4/25 - 1
9-5029867-T-A c.311T>A p.I104K Missense 4/25 - 1
9-5029869-G-A c.313G>A p.D105N Missense 4/25 - 1
9-5029869-G-C c.313G>C p.D105H Missense 4/25 - 1
9-5029869-G-T c.313G>T p.D105Y Missense 4/25 - 1
9-5029878-A-G c.322A>G p.T108A Missense 4/25 - 5
9-5029884-C-T c.328C>T p.H110Y Missense 4/25 - 1
9-5029885-A-G c.329A>G p.H110R Missense 4/25 - 1
9-5029887-AA-GG c.331_332delinsGG p.N111G Missense 4/25 - 1
9-5029888-A-C c.332A>C p.N111T Missense 4/25 - 1
9-5029893-C-G c.337C>G p.L113V Missense 4/25 - 1
9-5029896-TA-GC c.340_341delinsGC p.Y114A Missense 4/25 - 8
9-5029897-A-G c.341A>G p.Y114C Missense 4/25 - 2
9-5029897-A-T c.341A>T p.Y114F Missense 4/25 - 1
9-5029900-G-T c.344G>T p.R115I Missense 4/25 - 1
9-5036219-G-A c.350+6313G>A - IntronicSNV - 4/24 1
9-5037002-T-A c.350+7096T>A - IntronicSNV - 4/24 1
9-5040163-G-A c.351-4240G>A - IntronicSNV - 4/24 2
9-5040203-T-A c.351-4200T>A - IntronicSNV - 4/24 5
9-5042046-C-T c.351-2357C>T - IntronicSNV - 4/24 2
9-5042981-G-C c.351-1422G>C - IntronicSNV - 4/24 2
9-5042981-G-T c.351-1422G>T - IntronicSNV - 4/24 2
9-5043156-C-T c.351-1247C>T - IntronicSNV - 4/24 2
9-5044407-TAC-GAG c.355_357delinsGAG p.Y119E Missense 5/25 - 4
9-5044408-A-T c.356A>T p.Y119F Missense 5/25 - 2
9-5044413-C-T c.361C>T p.P121S Missense 5/25 - 1
9-5044414-C-T c.362C>T p.P121L Missense 5/25 - 1
9-5044416-C-A c.364C>A p.R122S Missense 5/25 - 1
9-5044417-G-A c.365G>A p.R122H Missense 5/25 - 1
9-5044417-G-C c.365G>C p.R122P Missense 5/25 - 1
9-5044422-T-C c.370T>C p.Y124H Missense 5/25 - 1
9-5044423-A-G c.371A>G p.Y124C Missense 5/25 - 1
9-5044428-A-G c.376A>G p.S126G Missense 5/25 - 1
9-5044432-G-A c.380G>A p.G127D Missense 5/25 - 5
9-5044440-AG-CA c.388_389delinsCA p.R130Q Missense 5/25 - 2
9-5044440-A-T c.388A>T p.R130* Nonsense 5/25 - 1
9-5044444-C-A c.392C>A p.A131D Missense 5/25 - 1
9-5044446-TA-GC c.394_395delinsGC p.Y132A Missense 5/25 - 1
9-5044446-T-G c.394T>G p.Y132D Missense 5/25 - 1
9-5044447-A-T c.395A>T p.Y132F Missense 5/25 - 1
9-5044449-C-T c.397C>T p.R133W Missense 5/25 - 1
9-5044450-G-A c.398G>A p.R133Q Missense 5/25 - 1
9-5044451-G-A c.399G>A p.R133= Synonymous 5/25 - 1
9-5044453-A-G c.401A>G p.H134R Missense 5/25 - 1
9-5044462-C-CT c.411dup p.R138Sfs*4 Frameshift 5/25 - 1
9-5044464-CG-AC c.412_413delinsAC p.R138T Missense 5/25 - 1
9-5044464-C-CGG c.413_414insGG p.G139Efs*29 Frameshift 5/25 - 1
9-5044465-G-A c.413G>A p.R138Q Missense 5/25 - 3
9-5044465-G-C c.413G>C p.R138P Missense 5/25 - 1
9-5044467-G-A c.415G>A p.G139S Missense 5/25 - 1
9-5044468-G-T c.416G>T p.G139V Missense 5/25 - 1
9-5044479-C-T c.427C>T p.P143S Missense 5/25 - 1
9-5044482-C-T c.430C>T p.L144F Missense 5/25 - 1
9-5044488-G-A c.436G>A p.D146N Missense 5/25 - 2
9-5044493-CTT-C c.443_444del p.F148Cfs*12 Frameshift 5/25 - 1
9-5044504-C-T c.452C>T p.S151F Missense 5/25 - 1
9-5044507-TA-T c.455del p.Y152Sfs*15 Frameshift 5/25 - 1
9-5044518-C-G c.466C>G p.Q156E Missense 5/25 - 1
9-5044519-A-G c.467A>G p.Q156R Missense 5/25 - 1
9-5045916-C-A c.468+1396C>A - IntronicSNV - 5/24 1
9-5045916-C-T c.468+1396C>T - IntronicSNV - 5/24 1
9-5046548-A-C c.468+2028A>C - IntronicSNV - 5/24 1
9-5046881-T-A c.468+2361T>A - IntronicSNV - 5/24 1
9-5046881-T-C c.468+2361T>C - IntronicSNV - 5/24 1
9-5048814-G-A c.469-1872G>A - IntronicSNV - 5/24 1
9-5049065-G-T c.469-1621G>T - IntronicSNV - 5/24 2
9-5049092-G-T c.469-1594G>T - IntronicSNV - 5/24 1
9-5050369-G-C c.469-317G>C - IntronicSNV - 5/24 1
9-5050688-G-C c.471G>C p.W157C Missense 6/25 - 1
9-5050689-C-G c.472C>G p.R158G Missense 6/25 - 1
9-5050689-C-T c.472C>T p.R158W Missense 6/25 - 1
9-5050690-G-A c.473G>A p.R158Q Missense 6/25 - 2
9-5050690-GG-AT c.473_474delinsAT p.R158H Missense 6/25 - 1
9-5050692-C-T c.475C>T p.H159Y Missense 6/25 - 2
9-5050702-T-G c.485T>G p.V162G Missense 6/25 - 1
9-5050705-A-G c.488A>G p.H163R Missense 6/25 - 1
9-5050706-C-T c.489C>T p.H163= Synonymous 6/25 - 7
9-5050707-G-A c.490G>A p.G164R Missense 6/25 - 1
9-5050708-G-C c.491G>C p.G164A Missense 6/25 - 1
9-5050710-T-C c.493T>C p.W165R Missense 6/25 - 1
9-5050714-T-C c.497T>C p.I166T Missense 6/25 - 3
9-5050716-AA-GC c.499_500delinsGC p.K167A Missense 6/25 - 1
9-5050717-AA-TG c.500_501delinsTG p.K167M Missense 6/25 - 1
9-5050717-A-G c.500A>G p.K167R Missense 6/25 - 1
9-5050718-A-C c.501A>C p.K167N Missense 6/25 - 1
9-5050718-A-T c.501A>T p.K167N Missense 6/25 - 1
9-5050728-A-T c.511A>T p.T171S Missense 6/25 - 1
9-5050731-CA-GC c.514_515delinsGC p.H172A Missense 6/25 - 1
9-5050734-G-A c.517G>A p.E173K Missense 6/25 - 1
9-5050735-A-G c.518A>G p.E173G Missense 6/25 - 1
9-5050742-G-C c.525G>C p.Q175H Missense 6/25 - 1
9-5050746-G-C c.529G>C p.E177Q Missense 6/25 - 1
9-5050755-G-T c.538G>T p.G180W Missense 6/25 - 1
9-5050756-G-C c.539G>C p.G180A Missense 6/25 - 1
9-5050759-T-G c.542T>G p.M181R Missense 6/25 - 1
9-5050788-A-C c.571A>C p.K191Q Missense 6/25 - 1
9-5050797-G-T c.580G>T p.D194Y Missense 6/25 - 1
9-5050803-AC-TG c.586_587delinsTG p.T196C Missense 6/25 - 1
9-5050806-C-T c.589C>T p.P197S Missense 6/25 - 1
9-5050811-G-C c.594G>C p.L198= Synonymous 6/25 - 1
9-5050819-A-G c.602A>G p.Y201C Missense 6/25 - 1
9-5050819-A-T c.602A>T p.Y201F Missense 6/25 - 1
9-5050820-TAACTCTATC-T c.605_613del p.N202_I204del InFrameDeletion 6/25 - 1
9-5053743-C-G c.615-820C>G - IntronicSNV - 6/24 1
9-5053743-C-T c.615-820C>T - IntronicSNV - 6/24 1
9-5054566-ACAAGACAT-A c.618_625del p.K207Lfs*44 Frameshift 7/25 - 1
9-5054591-C-T c.643C>T p.R215* Nonsense 7/25 - 1
9-5054592-G-A c.644G>A p.R215Q Missense 7/25 - 1
9-5054592-G-C c.644G>C p.R215P Missense 7/25 - 1
9-5054595-C-T c.647C>T p.A216V Missense 7/25 - 1
9-5054597-AA-GC c.649_650delinsGC p.K217A Missense 7/25 - 1
9-5054603-C-T c.655C>T p.Q219* Nonsense 7/25 - 1
9-5054606-G-A c.658G>A p.D220N Missense 7/25 - 1
9-5054607-A-C c.659A>C p.D220A Missense 7/25 - 1
9-5054607-A-T c.659A>T p.D220V Missense 7/25 - 1
9-5054610-A-T c.662A>T p.Y221F Missense 7/25 - 1
9-5054612-C-G c.664C>G p.H222D Missense 7/25 - 1
9-5054612-C-T c.664C>T p.H222Y Missense 7/25 - 1
9-5054616-T-C c.668T>C p.I223T Missense 7/25 - 1
9-5054618-TT-GA c.670_671delinsGA p.L224E Missense 7/25 - 2
9-5054622-C-T c.674C>T p.T225I Missense 7/25 - 1
9-5054624-A-AG c.678dup p.K227Efs*27 Frameshift 7/25 - 2
9-5054626-G-T c.678G>T p.R226S Missense 7/25 - 1
9-5054630-C-T c.682C>T p.R228* Nonsense 7/25 - 1
9-5054642-AGA-TAT c.694_696delinsTAT p.R232Y Missense 7/25 - 1
9-5054648-C-T c.700C>T p.R234C Missense 7/25 - 2
9-5054649-G-A c.701G>A p.R234H Missense 7/25 - 1
9-5054650-C-A c.702C>A p.R234= Synonymous 7/25 - 1
9-5054654-T-C c.706T>C p.F236L Missense 7/25 - 1
9-5054660-C-T c.712C>T p.Q238* Nonsense 7/25 - 1
9-5054663-C-A c.715C>A p.Q239K Missense 7/25 - 1
9-5054663-C-T c.715C>T p.Q239* Nonsense 7/25 - 1
9-5054672-C-T c.724C>T p.Q242* Nonsense 7/25 - 1
9-5054679-A-G c.731A>G p.K244R Missense 7/25 - 3
9-5054681-G-A c.733G>A p.A245T Missense 7/25 - 1
9-5054690-AGA-TGG c.742_744delinsTGG p.R248W Missense 7/25 - 3
9-5054690-AG-CA c.742_743delinsCA p.R248Q Missense 7/25 - 1
9-5054691-G-A c.743G>A p.R248K Missense 7/25 - 1
9-5054703-T-C c.755T>C p.L252P Missense 7/25 - 1
9-5054707-G-C c.759G>C p.K253N Missense 7/25 - 1
9-5054715-T-C c.767T>C p.I256T Missense 7/25 - 1
9-5054723-G-T c.775G>T p.E259* Nonsense 7/25 - 1
9-5054727-C-T c.779C>T p.T260I Missense 7/25 - 1
9-5054729-C-T c.781C>T p.L261= Synonymous 7/25 - 1
9-5054732-C-T c.784C>T p.Q262* Nonsense 7/25 - 1
9-5054734-G-T c.786G>T p.Q262H Missense 7/25 - 1
9-5054742-T-C c.794T>C p.F265S Missense 7/25 - 1
9-5054745-A-C c.797A>C p.Y266S Missense 7/25 - 1
9-5054746-C-T c.798C>T p.Y266= Synonymous 7/25 - 1
9-5054751-GA-G c.803del p.E268Gfs*5 Frameshift 7/25 - 1
9-5054752-G-C c.804G>C p.E268D Missense 7/25 - 2
9-5054752-G-T c.804G>T p.E268D Missense 7/25 - 2
9-5054754-A-C c.806A>C p.K269T Missense 7/25 - 1
9-5054755-A-C c.807A>C p.K269N Missense 7/25 - 1
9-5054755-A-T c.807A>T p.K269N Missense 7/25 - 1
9-5054756-T-G c.808T>G p.F270V Missense 7/25 - 1
9-5054765-AA-GC c.817_818delinsGC p.K273A Missense 7/25 - 1
9-5054766-A-G c.818A>G p.K273R Missense 7/25 - 1
9-5054775-G-T c.827G>T p.G276V Missense 7/25 - 1
9-5054778-G-A c.830G>A p.S277N Missense 7/25 - 1
9-5054778-G-C c.830G>C p.S277T Missense 7/25 - 1
9-5054782-TC-T c.836del p.P279Lfs*11 Frameshift 7/25 - 1
9-5054787-CA-TT c.839_840delinsTT p.S280F Missense 7/25 - 1
9-5054787-C-G c.839C>G p.S280* Nonsense 7/25 - 1
9-5054787-C-CA c.840dup p.G281Rfs*2 Frameshift 7/25 - 1
9-5054788-A-G c.840A>G p.S280= Synonymous 7/25 - 1
9-5054789-G-T c.841G>T p.G281C Missense 7/25 - 1
9-5054795-G-A c.847G>A p.E283K Missense 7/25 - 1
9-5054802-T-C c.854T>C p.F285S Missense 7/25 - 1
9-5054804-G-T c.856G>T p.A286S Missense 7/25 - 1
9-5054808-C-G c.860C>G p.T287S Missense 7/25 - 1
9-5054828-G-T c.880G>T p.G294C Missense 7/25 - 1
9-5054840-T-C c.892T>C p.W298R Missense 7/25 - 1
9-5054841-G-A c.893G>A p.W298* Nonsense 7/25 - 1
9-5054842-G-C c.894G>C p.W298C Missense 7/25 - 1
9-5054842-G-T c.894G>T p.W298C Missense 7/25 - 1
9-5054843-T-C c.895T>C p.S299P Missense 7/25 - 1
9-5054844-C-T c.896C>T p.S299L Missense 7/25 - 1
9-5054846-AG-CA c.898_899delinsCA p.R300Q Missense 7/25 - 1
9-5054847-G-C c.899G>C p.R300T Missense 7/25 - 1
9-5054848-A-C c.900A>C p.R300S Missense 7/25 - 1
9-5054848-A-T c.900A>T p.R300S Missense 7/25 - 1
9-5054849-G-A c.901G>A p.G301R Missense 7/25 - 1
9-5054849-G-C c.901G>C p.G301R Missense 7/25 - 1
9-5054856-A-T c.908A>T p.H303L Missense 7/25 - 1
9-5054870-A-C c.922A>C p.T308P Missense 7/25 - 1
9-5054870-ACA-CAT c.922_924delinsCAT p.T308H Missense 7/25 - 1
9-5054874-T-G c.926T>G p.L309R Missense 7/25 - 1
9-5054876-A-G c.928A>G p.T310A Missense 7/25 - 1
9-5054879-G-T c.931G>T p.E311* Nonsense 7/25 - 1
9-5054885-G-A c.936+1G>A - IntronicSNV - 7/24 1
9-5055015-C-T c.936+131C>T - IntronicSNV - 7/24 1
9-5055434-C-T c.937-235C>T - IntronicSNV - 7/24 3
9-5055669-G-C c.937G>C p.D313H Missense 8/25 - 1
9-5055681-T-C c.949T>C p.Y317H Missense 8/25 - 2
9-5055686-C-G c.954C>G p.C318W Missense 8/25 - 1
9-5055687-G-A c.955G>A p.D319N Missense 8/25 - 2
9-5055703-T-G c.971T>G p.I324S Missense 8/25 - 1
9-5055709-T-C c.977T>C p.V326A Missense 8/25 - 1
9-5055717-AAG-CAT c.985_987delinsCAT p.K329H Missense 8/25 - 1
9-5055729-C-T c.997C>T p.Q333* Nonsense 8/25 - 1
9-5055730-A-G c.998A>G p.Q333R Missense 8/25 - 1
9-5055735-G-A c.1003G>A p.G335S Missense 8/25 - 2
9-5055736-G-A c.1004G>A p.G335D Missense 8/25 - 4
9-5055741-A-G c.1009A>G p.N337D Missense 8/25 - 3
9-5055741-A-T c.1009A>T p.N337Y Missense 8/25 - 1
9-5055739-C-CA c.1010dup p.N337Kfs*2 Frameshift 8/25 - 1
9-5055745-A-T c.1013A>T p.E338V Missense 8/25 - 1
9-5055750-C-G c.1018C>G p.R340G Missense 8/25 - 1
9-5055750-CGA-TGG c.1018_1020delinsTGG p.R340W Missense 8/25 - 1
9-5055751-G-A c.1019G>A p.R340Q Missense 8/25 - 2
9-5055751-G-T c.1019G>T p.R340L Missense 8/25 - 1
9-5055754-GTT-G c.1022_1023del p.V341Gfs*5 Frameshift 8/25 - 1
9-5055754-T-G c.1022T>G p.V341G Missense 8/25 - 1
9-5055759-A-G c.1027A>G p.T343A Missense 8/25 - 1
9-5055784-A-T c.1052A>T p.N351I Missense 8/25 - 1
9-5055786-C-A c.1054C>A p.L352M Missense 8/25 - 1
9-5055790-T-C c.1056+2T>C - IntronicSNV - 8/24 1
9-5056931-C-A c.1056+1143C>A - IntronicSNV - 8/24 4
9-5057284-T-A c.1056+1496T>A - IntronicSNV - 8/24 4
9-5057822-C-A c.1056+2034C>A - IntronicSNV - 8/24 1
9-5058991-A-C c.1056+3203A>C - IntronicSNV - 8/24 2
9-5058991-A-T c.1056+3203A>T - IntronicSNV - 8/24 2
9-5059440-C-T c.1056+3652C>T - IntronicSNV - 8/24 4
9-5059543-T-C c.1056+3755T>C - IntronicSNV - 8/24 1
9-5063199-G-A c.1057-1684G>A - IntronicSNV - 8/24 1
9-5063199-G-T c.1057-1684G>T - IntronicSNV - 8/24 1
9-5063296-G-T c.1057-1587G>T - IntronicSNV - 8/24 3
9-5063701-T-A c.1057-1182T>A - IntronicSNV - 8/24 1
9-5063701-T-C c.1057-1182T>C - IntronicSNV - 8/24 1
9-5064193-T-C c.1057-690T>C - IntronicSNV - 8/24 1
9-5064887-T-C c.1061T>C p.I354T Missense 9/25 - 1
9-5064890-A-G c.1064A>G p.E355G Missense 9/25 - 1
9-5064901-T-G c.1075T>G p.L359V Missense 9/25 - 2
9-5064905-G-A c.1079G>A p.R360K Missense 9/25 - 1
9-5064906-G-A c.1080G>A p.R360= Synonymous 9/25 - 1
9-5064916-T-C c.1090T>C p.S364P Missense 9/25 - 2
9-5064917-CTTTCGTGTCATTAATTGATGGATATTATAGATTAACTGCAGATGCACATCAT-C c.1093_1144del p.F365Tfs*6 Frameshift 9/25 - 4
9-5064921-C-T c.1095C>T p.F365= Synonymous 9/25 - 1
9-5064919-TTCGTGTCATTAATTGATGGATATTATAGATTAACTGCAGATGCACA-T c.1096_1141del p.V366Ifs*7 Frameshift 9/25 - 2
9-5064922-G-A c.1096G>A p.V366M Missense 9/25 - 4
9-5064923-T-G c.1097T>G p.V366G Missense 9/25 - 1
9-5064925-T-G c.1099T>G p.S367A Missense 9/25 - 1
9-5064928-ATTAATTGATGGATATTATAGATTAACTGCAGATG-A c.1102_1135del p.L368Hfs*9 Frameshift 9/25 - 1
9-5064932-T-C c.1106T>C p.I369T Missense 9/25 - 1
9-5064931-AT-A c.1107del p.I369Mfs*7 Frameshift 9/25 - 1
9-5064934-G-A c.1108G>A p.D370N Missense 9/25 - 1
9-5064934-GAT-ATG c.1108_1110delinsATG p.D370M Missense 9/25 - 1
9-5064934-G-C c.1108G>C p.D370H Missense 9/25 - 1
9-5064934-TG-T c.1108del p.D370Mfs*6 Frameshift 9/25 - 1
9-5064936-TG-T c.1112del p.G371Dfs*5 Frameshift 9/25 - 1
9-5064940-T-C c.1114T>C p.Y372H Missense 9/25 - 1
9-5064941-A-G c.1115A>G p.Y372C Missense 9/25 - 3
9-5064941-A-T c.1115A>T p.Y372F Missense 9/25 - 1
9-5064944-A-T c.1118A>T p.Y373F Missense 9/25 - 2
9-5064946-AG-GA c.1120_1121delinsGA p.R374E Missense 9/25 - 1
9-5064946-A-T c.1120A>T p.R374* Nonsense 9/25 - 1
9-5064947-G-A c.1121G>A p.R374K Missense 9/25 - 2
9-5064951-TAACTGCAGATGCACATCATTACC-T c.1125_1147del p.L375Ffs*3 Frameshift 9/25 - 1
9-5064953-C-G c.1127C>G p.T376S Missense 9/25 - 1
9-5064955-TGCAGATGCAC-T c.1129_1138del p.A377Ifs*8 Frameshift 9/25 - 1
9-5064962-C-T c.1136C>T p.A379V Missense 9/25 - 1
9-5064963-A-T c.1137A>T p.A379= Synonymous 9/25 - 1
9-5064964-C-A c.1138C>A p.H380N Missense 9/25 - 1
9-5064965-A-G c.1139A>G p.H380R Missense 9/25 - 1
9-5064967-C-T c.1141C>T p.H381Y Missense 9/25 - 1
9-5064968-A-C c.1142A>C p.H381P Missense 9/25 - 1
9-5064968-AT-A c.1144del p.Y382Tfs*6 Frameshift 9/25 - 1
9-5064973-C-G c.1147C>G p.L383V Missense 9/25 - 1
9-5064973-C-T c.1147C>T p.L383F Missense 9/25 - 1
9-5064976-T-C c.1150T>C p.C384R Missense 9/25 - 1
9-5064980-A-ATTGTC c.1154_1155insTTGTC p.K385Nfs*5 Frameshift 9/25 - 5
9-5064985-G-A c.1159G>A p.V387I Missense 9/25 - 1
9-5064986-T-G c.1160T>G p.V387G Missense 9/25 - 1
9-5064991-C-T c.1165C>T p.P389S Missense 9/25 - 1
9-5064994-C-T c.1168C>T p.P390S Missense 9/25 - 1
9-5064995-C-T c.1169C>T p.P390L Missense 9/25 - 1
9-5065000-G-A c.1174G>A p.V392M Missense 9/25 - 4
9-5065003-C-G c.1177C>G p.L393V Missense 9/25 - 7
9-5065012-A-G c.1186A>G p.I396V Missense 9/25 - 1
9-5065012-AT-GA c.1186_1187delinsGA p.I396E Missense 9/25 - 1
9-5065015-C-T c.1189C>T p.Q397* Nonsense 9/25 - 1
9-5065019-G-A c.1193G>A p.S398N Missense 9/25 - 1
9-5065024-T-G c.1198T>G p.C400G Missense 9/25 - 1
9-5065024-TG-GC c.1198_1199delinsGC p.C400A Missense 9/25 - 1
9-5065029-T-A c.1203T>A p.H401Q Missense 9/25 - 1
9-5065029-T-G c.1203T>G p.H401Q Missense 9/25 - 1
9-5065039-T-G c.1213T>G p.S405A Missense 9/25 - 1
9-5065750-G-C c.1214+710G>C - IntronicSNV - 9/24 7
9-5066682-G-A c.1219G>A p.D407N Missense 10/25 - 1
9-5066682-GAT-TGG c.1219_1221delinsTGG p.D407W Missense 10/25 - 1
9-5066684-T-A c.1221T>A p.D407E Missense 10/25 - 1
9-5066684-T-G c.1221T>G p.D407E Missense 10/25 - 1
9-5066689-CC-AG c.1226_1227delinsAG p.A409E Missense 10/25 - 2
9-5066689-C-T c.1226C>T p.A409V Missense 10/25 - 1
9-5066695-G-A c.1232G>A p.S411N Missense 10/25 - 1
9-5066699-A-T c.1236A>T p.K412N Missense 10/25 - 1
9-5066701-T-C c.1238T>C p.L413P Missense 10/25 - 1
9-5066702-TGAAGAAAGCAGGTAATCAG-T c.1239_1257del p.K414Lfs*18 Frameshift 10/25 - 1
9-5066705-G-C c.1242G>C p.K414N Missense 10/25 - 1
9-5066705-G-T c.1242G>T p.K414N Missense 10/25 - 1
9-5066712-G-A c.1249G>A p.G417S Missense 10/25 - 2
9-5066712-G-C c.1249G>C p.G417R Missense 10/25 - 1
9-5066712-GG-CC c.1249_1250inv p.G417P Missense 10/25 - 1
9-5066713-G-A c.1250G>A p.G417D Missense 10/25 - 1
9-5066739-CG-GC c.1276_1277delinsGC p.R426A Missense 10/25 - 1
9-5066739-C-T c.1276C>T p.R426* Nonsense 10/25 - 1
9-5066740-G-A c.1277G>A p.R426Q Missense 10/25 - 1
9-5066742-TG-GC c.1279_1280delinsGC p.C427A Missense 10/25 - 1
9-5066746-G-A c.1283G>A p.S428N Missense 10/25 - 1
9-5066748-CC-TA c.1285_1286delinsTA p.P429Y Missense 10/25 - 1
9-5066748-C-T c.1285C>T p.P429S Missense 10/25 - 1
9-5066749-C-T c.1286C>T p.P429L Missense 10/25 - 1
9-5066752-A-G c.1289A>G p.K430R Missense 10/25 - 1
9-5066753-G-C c.1290G>C p.K430N Missense 10/25 - 1
9-5066753-G-T c.1290G>T p.K430N Missense 10/25 - 1
9-5066755-A-T c.1292A>T p.D431V Missense 10/25 - 1
9-5066756-C-G c.1293C>G p.D431E Missense 10/25 - 1
9-5066761-A-G c.1298A>G p.N433S Missense 10/25 - 1
9-5066782-C-A c.1319C>A p.A440D Missense 10/25 - 1
9-5066782-C-T c.1319C>T p.A440V Missense 10/25 - 1
9-5066787-G-C c.1324G>C p.E442Q Missense 10/25 - 1
9-5067298-C-T c.1326+509C>T - IntronicSNV - 10/24 2
9-5068520-T-C c.1327-502T>C - IntronicSNV - 10/24 2
9-5068520-T-G c.1327-502T>G - IntronicSNV - 10/24 2
9-5068755-T-C c.1327-267T>C - IntronicSNV - 10/24 8
9-5068755-T-G c.1327-267T>G - IntronicSNV - 10/24 8
9-5069022-CGA-TGT c.1327_1329delinsTGT p.R443C Missense 11/25 - 1
9-5069022-C-T c.1327C>T p.R443* Nonsense 11/25 - 1
9-5069025-G-A c.1330G>A p.E444K Missense 11/25 - 1
9-5069025-G-T c.1330G>T p.E444* Nonsense 11/25 - 1
9-5069037-G-A c.1342G>A p.E448K Missense 11/25 - 1
9-5069041-A-T c.1346A>T p.Y449F Missense 11/25 - 1
9-5069048-ACT-A c.1353_1354del p.H451Qfs*7 Frameshift 11/25 - 1
9-5069050-G-T c.1355G>T p.C452F Missense 11/25 - 2
9-5069052-T-C c.1357T>C p.L453= Synonymous 11/25 - 1
9-5069054-G-A c.1359G>A p.L453= Synonymous 11/25 - 1
9-5069059-CA-C c.1370del p.N457Mfs*22 Frameshift 11/25 - 1
9-5069059-C-CA c.1370dup p.N457Kfs*2 Frameshift 11/25 - 1
9-5069065-A-C c.1370A>C p.N457T Missense 11/25 - 1
9-5069112-AG-GC c.1417_1418delinsGC p.S473A Missense 11/25 - 1
9-5069118-A-T c.1423A>T p.K475* Nonsense 11/25 - 1
9-5069121-G-A c.1426G>A p.D476N Missense 11/25 - 1
9-5069128-T-C c.1433T>C p.L478S Missense 11/25 - 1
9-5069134-G-T c.1439G>T p.C480F Missense 11/25 - 1
9-5069143-T-G c.1448T>G p.M483R Missense 11/25 - 1
9-5069145-G-A c.1450G>A p.E484K Missense 11/25 - 7
9-5069145-G-C c.1450G>C p.E484Q Missense 11/25 - 3
9-5069160-G-A c.1465G>A p.D489N Missense 11/25 - 1
9-5069162-C-A c.1467C>A p.D489E Missense 11/25 - 1
9-5069175-C-T c.1480C>T p.Q494* Nonsense 11/25 - 1
9-5069188-G-T c.1493G>T p.C498F Missense 11/25 - 1
9-5069196-C-G c.1501C>G p.P501A Missense 11/25 - 1
9-5069192-T-TC c.1502dup p.P503Afs*4 Frameshift 11/25 - 1
9-5069202-C-G c.1507C>G p.P503A Missense 11/25 - 1
9-5069203-C-T c.1508C>T p.P503L Missense 11/25 - 1
9-5069205-AA-GC c.1510_1511delinsGC p.K504A Missense 11/25 - 1
9-5069837-G-A c.1514-88G>A - IntronicSNV - 11/24 4
9-5069927-AA-GC c.1516_1517delinsGC p.K506A Missense 12/25 - 1
9-5069929-A-G c.1518A>G p.K506= Synonymous 12/25 - 1
9-5069930-T-G c.1519T>G p.S507A Missense 12/25 - 1
9-5069931-C-A c.1520C>A p.S507* Nonsense 12/25 - 1
9-5069931-C-G c.1520C>G p.S507* Nonsense 12/25 - 1
9-5069936-CT-GC c.1525_1526delinsGC p.L509A Missense 12/25 - 1
9-5069939-CTA-TGT c.1528_1530delinsTGT p.L510C Missense 12/25 - 1
9-5069939-CT-GC c.1528_1529delinsGC p.L510A Missense 12/25 - 1
9-5069940-T-C c.1529T>C p.L510P Missense 12/25 - 1
9-5069942-GT-CG c.1531_1532delinsCG p.V511R Missense 12/25 - 1
9-5069945-TT-GC c.1534_1535delinsGC p.F512A Missense 12/25 - 1
9-5069948-AGA-CAT c.1537_1539delinsCAT p.R513H Missense 12/25 - 1
9-5069948-AG-GC c.1537_1538delinsGC p.R513A Missense 12/25 - 1
9-5069949-G-A c.1538G>A p.R513K Missense 12/25 - 1
9-5069952-C-T c.1541C>T p.T514M Missense 12/25 - 4
9-5069954-AA-GC c.1543_1544delinsGC p.N515A Missense 12/25 - 1
9-5069957-GG-AC c.1546_1547delinsAC p.G516T Missense 12/25 - 2
9-5069957-G-T c.1546G>T p.G516C Missense 12/25 - 1
9-5069966-G-T c.1555G>T p.D519Y Missense 12/25 - 1
9-5069967-A-C c.1556A>C p.D519A Missense 12/25 - 1
9-5069969-G-A c.1558G>A p.V520I Missense 12/25 - 1
9-5069973-C-T c.1562C>T p.P521L Missense 12/25 - 1
9-5069978-T-G c.1567T>G p.S523A Missense 12/25 - 3
9-5069979-C-A c.1568C>A p.S523* Nonsense 12/25 - 1
9-5069979-C-G c.1568C>G p.S523* Nonsense 12/25 - 1
9-5069979-C-T c.1568C>T p.S523L Missense 12/25 - 2
9-5069981-C-G c.1570C>G p.P524A Missense 12/25 - 1
9-5069984-A-G c.1573A>G p.T525A Missense 12/25 - 1
9-5069987-T-A c.1576T>A p.L526I Missense 12/25 - 1
9-5069990-CA-GC c.1579_1580delinsGC p.Q527A Missense 12/25 - 1
9-5069993-AG-GC c.1582_1583delinsGC p.R528A Missense 12/25 - 1
9-5069993-A-C c.1582A>C p.R528= Synonymous 12/25 - 1
9-5069995-G-A c.1584G>A p.R528= Synonymous 12/25 - 1
9-5069996-C-T c.1585C>T p.P529S Missense 12/25 - 1
9-5069997-C-A c.1586C>A p.P529H Missense 12/25 - 1
9-5070005-A-G c.1594A>G p.M532V Missense 12/25 - 3
9-5070008-AA-GC c.1597_1598delinsGC p.N533A Missense 12/25 - 1
9-5070008-A-G c.1597A>G p.N533D Missense 12/25 - 2
9-5070008-A-T c.1597A>T p.N533Y Missense 12/25 - 4
9-5070014-A-G c.1603A>G p.M535V Missense 12/25 - 1
9-5070015-T-A c.1604T>A p.M535K Missense 12/25 - 1
9-5070015-T-C c.1604T>C p.M535T Missense 12/25 - 1
9-5070016-G-A c.1605G>A p.M535I Missense 12/25 - 5
9-5070016-G-C c.1605G>C p.M535I Missense 12/25 - 5
9-5070016-G-T c.1605G>T p.M535I Missense 12/25 - 5
9-5070019-G-A c.1608G>A p.V536= Synonymous 12/25 - 1
9-5070020-T-A c.1609T>A p.F537I Missense 12/25 - 1
9-5070020-T-C c.1609T>C p.F537L Missense 12/25 - 1
9-5070020-TT-GC c.1609_1610delinsGC p.F537A Missense 12/25 - 2
9-5070022-T-A c.1611T>A p.F537L Missense 12/25 - 1
9-5070022-T-G c.1611T>G p.F537L Missense 12/25 - 1
9-5070022-T-C c.1611T>C p.F537= Synonymous 12/25 - 1
9-5070022-TTCACAA-T c.1611_1616del p.F537_K539delinsL MultiAAMissense 12/25 - 3
9-5070023-CA-GG c.1612_1613delinsGG p.H538G Missense 12/25 - 1
9-5070023-C-T c.1612C>T p.H538Y Missense 12/25 - 2
9-5070023-TCACAAA-T c.1612_1617del p.H538_K539del InFrameDeletion 12/25 - 1
9-5070023-TCACAA-T c.1612_1616del p.H538Nfs*4 Frameshift 12/25 - 1
9-5070025-CAAA-ACTT c.1614_1617delinsACTT p.H538_K539delinsQL MultiAAMissense 12/25 - 1
9-5070024-ACAA-T c.1613_1616delinsT p.H538_K539delinsL MultiAAMissense 12/25 - 1
9-5070024-A-T c.1613A>T p.H538L Missense 12/25 - 2
9-5070025-C-A c.1614C>A p.H538Q Missense 12/25 - 7
9-5070025-CAA-ATT c.1614_1616delinsATT p.H538_K539delinsQL MultiAAMissense 12/25 - 1
9-5070025-C-G c.1614C>G p.H538Q Missense 12/25 - 7
9-5070026-AA-CT c.1615_1616delinsCT p.K539L Missense 12/25 - 68
9-5070026-A-G c.1615A>G p.K539E Missense 12/25 - 2
9-5070025-CAAA-C c.1616_1618del p.K539del InFrameDeletion 12/25 - 3
9-5070027-A-T c.1616A>T p.K539I Missense 12/25 - 5
9-5070029-ATC-CTTGTA c.1618_1620delinsCTTGTA p.I540delinsLV MultiAAMissense 12/25 - 1
9-5070029-AT-GC c.1618_1619delinsGC p.I540A Missense 12/25 - 1
9-5070030-T-C c.1619T>C p.I540T Missense 12/25 - 1
9-5070030-TCAGAAATG-GAA c.1619_1627delinsGAA p.I540_E543delinsRK MultiAAMissense 12/25 - 1
9-5070031-CAGAAATG-GA c.1620_1627delinsGA p.I540_E543delinsMK MultiAAMissense 12/25 - 2
9-5070032-A-G c.1621A>G p.R541G Missense 12/25 - 1
9-5070032-A-T c.1621A>T p.R541* Nonsense 12/25 - 1
9-5070033-AGAAATG-A c.1622_1627del p.R541_E543delinsK MultiAAMissense 12/25 - 2
9-5070033-GAAATGA-G c.1624_1629del p.N542_E543del InFrameDeletion 12/25 - 4
9-5070035-AA-GC c.1624_1625delinsGC p.N542A Missense 12/25 - 1
9-5070035-AATGAAG-A c.1627_1632del p.E543_D544del InFrameDeletion 12/25 - 1
9-5070038-G-A c.1627G>A p.E543K Missense 12/25 - 1
9-5070038-GAA-AAGAAG c.1627_1629delinsAAGAAG p.E543delinsKK MultiAAMissense 12/25 - 1
9-5070038-GAA-ATGAAG c.1627_1629delinsATGAAG p.E543delinsMK MultiAAMissense 12/25 - 5
9-5070039-A-C c.1628A>C p.E543A Missense 12/25 - 2
9-5070039-A-G c.1628A>G p.E543G Missense 12/25 - 1
9-5070037-TGAA-T c.1629_1631del p.E543del InFrameDeletion 12/25 - 34
9-5070040-A-C c.1629A>C p.E543D Missense 12/25 - 2
9-5070040-A-T c.1629A>T p.E543D Missense 12/25 - 2
9-5070041-AGAT-A c.1630_1632del p.D544del InFrameDeletion 12/25 - 16
9-5070041-G-A c.1630G>A p.D544N Missense 12/25 - 1
9-5070041-G-C c.1630G>C p.D544H Missense 12/25 - 1
9-5070044-T-G c.1633T>G p.L545V Missense 12/25 - 2
9-5070044-TTTG-T c.1633_1635del p.L545del InFrameDeletion 12/25 - 2
9-5070045-TG-GT c.1634_1635delinsGT p.L545C Missense 12/25 - 1
9-5070050-T-C c.1639T>C p.F547L Missense 12/25 - 6
9-5070052-T-A c.1641T>A p.F547L Missense 12/25 - 6
9-5070052-T-G c.1641T>G p.F547L Missense 12/25 - 6
9-5070054-T-G c.1641+2T>G - IntronicSNV - 12/24 1
9-5070058-T-C c.1641+6T>C - IntronicSNV - 12/24 1
9-5070182-C-T c.1641+130C>T - IntronicSNV - 12/24 1
9-5070831-C-G c.1641+779C>G - IntronicSNV - 12/24 37
9-5071049-G-A c.1641+997G>A - IntronicSNV - 12/24 4
9-5071942-C-G c.1642-550C>G - IntronicSNV - 12/24 1
9-5072182-C-T c.1642-310C>T - IntronicSNV - 12/24 2
9-5072495-G-A c.1645G>A p.E549K Missense 13/25 - 1
9-5072498-AGC-TGA c.1648_1650delinsTGA p.S550* Nonsense 13/25 - 1
9-5072498-AG-GC c.1648_1649delinsGC p.S550A Missense 13/25 - 1
9-5072502-T-C c.1652T>C p.L551P Missense 13/25 - 1
9-5072505-G-C c.1655G>C p.G552A Missense 13/25 - 2
9-5072511-G-C c.1661G>C p.G554A Missense 13/25 - 1
9-5072514-C-G c.1664C>G p.T555S Missense 13/25 - 1
9-5072516-T-G c.1666T>G p.F556V Missense 13/25 - 13
9-5072523-A-G c.1673A>G p.K558R Missense 13/25 - 1
9-5072525-A-T c.1675A>T p.I559F Missense 13/25 - 4
9-5072525-ATT-GAG c.1675_1677delinsGAG p.I559E Missense 13/25 - 1
9-5072537-G-A c.1687G>A p.V563I Missense 13/25 - 3
9-5072540-C-T c.1690C>T p.R564* Nonsense 13/25 - 2
9-5072541-G-A c.1691G>A p.R564Q Missense 13/25 - 20
9-5072541-G-T c.1691G>T p.R564L Missense 13/25 - 6
9-5072543-A-T c.1693A>T p.R565* Nonsense 13/25 - 1
9-5072546-GA-TC c.1696_1697inv p.E566S Missense 13/25 - 1
9-5072550-T-C c.1700T>C p.V567A Missense 13/25 - 4
9-5072556-A-C c.1706A>C p.D569A Missense 13/25 - 1
9-5072558-TA-CG c.1708_1709delinsCG p.Y570R Missense 13/25 - 1
9-5072558-TAC-GAG c.1708_1710delinsGAG p.Y570E Missense 13/25 - 1
9-5072558-T-C c.1708T>C p.Y570H Missense 13/25 - 1
9-5072559-A-T c.1709A>T p.Y570F Missense 13/25 - 9
9-5072561-G-A c.1711G>A p.G571S Missense 13/25 - 17
9-5072561-G-C c.1711G>C p.G571R Missense 13/25 - 3
9-5072561-G-T c.1711G>T p.G571C Missense 13/25 - 1
9-5072564-C-T c.1714C>T p.Q572* Nonsense 13/25 - 1
9-5072571-A-G c.1721A>G p.H574R Missense 13/25 - 3
9-5072576-A-G c.1726A>G p.T576A Missense 13/25 - 1
9-5072579-G-C c.1729G>C p.E577Q Missense 13/25 - 1
9-5072585-C-T c.1735C>T p.L579F Missense 13/25 - 6
9-5072591-AA-GC c.1741_1742delinsGC p.K581A Missense 13/25 - 7
9-5072592-A-G c.1742A>G p.K581R Missense 13/25 - 3
9-5072595-T-C c.1745T>C p.V582A Missense 13/25 - 1
9-5072597-CTGGATAAAG-T c.1747_1756delinsT p.L583_A586delinsS MultiAAMissense 13/25 - 1
9-5072598-CTGGATAAAG-C c.1748_1756del p.L583_A586delinsP MultiAAMissense 13/25 - 1
9-5072602-T-A c.1752T>A p.D584E Missense 13/25 - 1
9-5072607-C-G c.1757C>G p.A586G Missense 13/25 - 1
9-5072609-C-A c.1759C>A p.H587N Missense 13/25 - 7
9-5072609-C-T c.1759C>T p.H587Y Missense 13/25 - 1
9-5072612-AGA-TGT c.1762_1764delinsTGT p.R588C Missense 13/25 - 1
9-5072612-AG-GA c.1762_1763delinsGA p.R588E Missense 13/25 - 1
9-5072612-AG-GC c.1762_1763delinsGC p.R588A Missense 13/25 - 3
9-5072612-A-T c.1762A>T p.R588* Nonsense 13/25 - 1
9-5072611-CAG-C c.1763_1764del p.R588Kfs*8 Frameshift 13/25 - 3
9-5072613-GA-TG c.1763_1764delinsTG p.R588M Missense 13/25 - 2
9-5072617-C-A c.1767C>A p.N589K Missense 13/25 - 1
9-5072618-TA-GC c.1768_1769delinsGC p.Y590A Missense 13/25 - 1
9-5072618-TAT-GAG c.1768_1770delinsGAG p.Y590E Missense 13/25 - 1
9-5072619-A-T c.1769A>T p.Y590F Missense 13/25 - 2
9-5072622-C-T c.1772C>T p.S591L Missense 13/25 - 7
9-5072624-G-A c.1774G>A p.E592K Missense 13/25 - 2
9-5072624-GA-AG c.1774_1775delinsAG p.E592R Missense 13/25 - 4
9-5072624-GA-TG c.1774_1775delinsTG p.E592W Missense 13/25 - 1
9-5072625-A-C c.1775A>C p.E592A Missense 13/25 - 2
9-5072626-GGT-G c.1776+5_1776+6del - SpliceDonorDeletion - 13/24 1
9-5072633-A-G c.1776+7A>G - IntronicSNV - 13/24 1
9-5072637-T-A c.1776+11T>A - IntronicSNV - 13/24 1
9-5072679-T-A c.1776+53T>A - IntronicSNV - 13/24 1
9-5072798-T-C c.1776+172T>C - IntronicSNV - 13/24 6
9-5072846-G-A c.1776+220G>A - IntronicSNV - 13/24 11
9-5073699-C-T c.1778C>T p.S593F Missense 14/25 - 1
9-5073701-TT-GC c.1780_1781delinsGC p.F594A Missense 14/25 - 2
9-5073699-CTTTCT-C c.1781_1785del p.F594* Frameshift 14/25 - 1
9-5073704-T-A c.1783T>A p.F595I Missense 14/25 - 1
9-5073704-T-G c.1783T>G p.F595V Missense 14/25 - 1
9-5073704-TT-GC c.1783_1784delinsGC p.F595A Missense 14/25 - 8
9-5073704-TTT-AAG c.1783_1785delinsAAG p.F595K Missense 14/25 - 1
9-5073705-T-A c.1784T>A p.F595Y Missense 14/25 - 1
9-5073705-TT-AA c.1784_1785inv p.F595* Nonsense 14/25 - 1
9-5073705-TT-GG c.1784_1785delinsGG p.F595W Missense 14/25 - 1
9-5073707-G-A c.1786G>A p.E596K Missense 14/25 - 1
9-5073707-GA-AG c.1786_1787delinsAG p.E596R Missense 14/25 - 4
9-5073707-G-C c.1786G>C p.E596Q Missense 14/25 - 1
9-5073707-G-T c.1786G>T p.E596* Nonsense 14/25 - 1
9-5073708-A-C c.1787A>C p.E596A Missense 14/25 - 2
9-5073709-A-C c.1788A>C p.E596D Missense 14/25 - 1
9-5073709-A-T c.1788A>T p.E596D Missense 14/25 - 1
9-5073713-G-A c.1792G>A p.A598T Missense 14/25 - 2
9-5073717-G-A c.1796G>A p.S599N Missense 14/25 - 1
9-5073716-A-C c.1795A>C p.S599R Missense 14/25 - 1
9-5073718-T-A c.1797T>A p.S599R Missense 14/25 - 1
9-5073718-T-G c.1797T>G p.S599R Missense 14/25 - 1
9-5073719-A-G c.1798A>G p.M600V Missense 14/25 - 1
9-5073720-T-G c.1799T>G p.M600R Missense 14/25 - 1
9-5073728-A-C c.1807A>C p.K603Q Missense 14/25 - 1
9-5073728-A-G c.1807A>G p.K603E Missense 14/25 - 1
9-5073734-T-G c.1813T>G p.S605A Missense 14/25 - 1
9-5073735-C-A c.1814C>A p.S605Y Missense 14/25 - 1
9-5073739-C-A c.1818C>A p.H606Q Missense 14/25 - 4
9-5073739-C-G c.1818C>G p.H606Q Missense 14/25 - 4
9-5073740-A-G c.1819A>G p.K607E Missense 14/25 - 1
9-5073740-A-T c.1819A>T p.K607* Nonsense 14/25 - 1
9-5073741-A-G c.1820A>G p.K607R Missense 14/25 - 1
9-5073742-G-C c.1821G>C p.K607N Missense 14/25 - 13
9-5073742-G-T c.1821G>T p.K607N Missense 14/25 - 4
9-5073743-C-A c.1822C>A p.H608N Missense 14/25 - 9
9-5073743-C-T c.1822C>T p.H608Y Missense 14/25 - 3
9-5073747-T-C c.1826T>C p.L609S Missense 14/25 - 1
9-5073752-T-G c.1831T>G p.L611V Missense 14/25 - 6
9-5073749-GT-G c.1832del p.L611* Frameshift 14/25 - 1
9-5073753-T-C c.1832T>C p.L611S Missense 14/25 - 22
9-5073758-TAT-GAG c.1837_1839delinsGAG p.Y613E Missense 14/25 - 4
9-5073759-A-T c.1838A>T p.Y613F Missense 14/25 - 4
9-5073760-T-C c.1839T>C p.Y613= Synonymous 14/25 - 1
9-5073764-G-C c.1843G>C p.V615L Missense 14/25 - 4
9-5073764-G-T c.1843G>T p.V615L Missense 14/25 - 4
9-5073768-G-A c.1847G>A p.C616Y Missense 14/25 - 8
9-5073768-TGTGTC-T c.1847_1851del p.C616Lfs*25 Frameshift 14/25 - 1
9-5073769-T-C c.1848T>C p.C616= Synonymous 14/25 - 1
9-5073770-G-A c.1849G>A p.V617I Missense 14/25 - 36
9-5073770-G-C c.1849G>C p.V617L Missense 14/25 - 3
9-5073770-G-T c.1849G>T p.V617F Missense 14/25 - 3805
9-5073770-GTC-AAG c.1849_1851delinsAAG p.V617K Missense 14/25 - 2
9-5073770-GTC-ATG c.1849_1851delinsATG p.V617M Missense 14/25 - 1
9-5073770-GT-CC c.1849_1850delinsCC p.V617P Missense 14/25 - 2
9-5073770-GTC-TAA c.1849_1851delinsTAA p.V617* Nonsense 14/25 - 1
9-5073770-GTC-TGG c.1849_1851delinsTGG p.V617W Missense 14/25 - 1
9-5073770-GT-TA c.1849_1850delinsTA p.V617Y Missense 14/25 - 1
9-5073770-GT-TG c.1849_1850delinsTG p.V617C Missense 14/25 - 1
9-5073771-T-A c.1850T>A p.V617D Missense 14/25 - 1
9-5073771-T-C c.1850T>C p.V617A Missense 14/25 - 3
9-5073771-TC-AG c.1850_1851delinsAG p.V617E Missense 14/25 - 2
9-5073771-T-G c.1850T>G p.V617G Missense 14/25 - 1
9-5073770-GTC-G c.1851_1852del p.C618Wfs*24 Frameshift 14/25 - 1
9-5073772-C-A c.1851C>A p.V617= Synonymous 14/25 - 9
9-5073772-C-G c.1851C>G p.V617= Synonymous 14/25 - 9
9-5073772-C-T c.1851C>T p.V617= Synonymous 14/25 - 9
9-5073773-T-C c.1852T>C p.C618R Missense 14/25 - 15
9-5073774-G-A c.1853G>A p.C618Y Missense 14/25 - 1
9-5073774-G-T c.1853G>T p.C618F Missense 14/25 - 3
9-5073776-G-C c.1855G>C p.G619R Missense 14/25 - 1
9-5073781-C-A c.1860C>A p.D620E Missense 14/25 - 10
9-5073781-C-G c.1860C>G p.D620E Missense 14/25 - 2
9-5073782-G-A c.1861G>A p.E621K Missense 14/25 - 1
9-5073792-A-G c.1864+7A>G - IntronicSNV - 14/24 1
9-5073798-A-G c.1864+13A>G - IntronicSNV - 14/24 1
9-5074189-T-C c.1864+404T>C - IntronicSNV - 14/24 29
9-5076613-G-C c.1865-840G>C - IntronicSNV - 14/24 3
9-5076691-C-A c.1865-762C>A - IntronicSNV - 14/24 13
9-5076691-C-G c.1865-762C>G - IntronicSNV - 14/24 13
9-5077453-A-T c.1865A>T p.N622I Missense 15/25 - 4
9-5077455-A-G c.1867A>G p.I623V Missense 15/25 - 1
9-5077459-T-C c.1871T>C p.L624P Missense 15/25 - 3
9-5077461-GGT-G c.1873_1874del p.V625Sfs*17 Frameshift 15/25 - 1
9-5077461-G-T c.1873G>T p.V625F Missense 15/25 - 14
9-5077468-A-C c.1880A>C p.E627A Missense 15/25 - 3
9-5077468-GA-G c.1880del p.E627Gfs*3 Frameshift 15/25 - 1
9-5077469-G-A c.1881G>A p.E627= Synonymous 15/25 - 2
9-5077476-AA-GC c.1888_1889delinsGC p.K630A Missense 15/25 - 1
9-5077476-AA-GG c.1888_1889delinsGG p.K630G Missense 15/25 - 1
9-5077476-A-C c.1888A>C p.K630Q Missense 15/25 - 1
9-5077479-TT-GG c.1891_1892delinsGG p.F631G Missense 15/25 - 1
9-5077485-T-G c.1897T>G p.S633A Missense 15/25 - 1
9-5077488-C-T c.1900C>T p.L634= Synonymous 15/25 - 1
9-5077489-T-C c.1901T>C p.L634P Missense 15/25 - 2
9-5077489-T-G c.1901T>G p.L634R Missense 15/25 - 1
9-5077491-G-T c.1903G>T p.D635Y Missense 15/25 - 1
9-5077495-ACATATCTGAAAAAGAATAAAAAT-A c.1907_1929del p.T636Mfs*9 Frameshift 15/25 - 1
9-5077496-A-G c.1908A>G p.T636= Synonymous 15/25 - 1
9-5077497-TAT-GAG c.1909_1911delinsGAG p.Y637E Missense 15/25 - 1
9-5077498-A-T c.1910A>T p.Y637F Missense 15/25 - 1
9-5077514-A-T c.1926A>T p.K642N Missense 15/25 - 1
9-5077521-A-G c.1933A>G p.I645V Missense 15/25 - 3
9-5077524-A-G c.1936A>G p.N646D Missense 15/25 - 1
9-5077531-T-C c.1943T>C p.L648S Missense 15/25 - 1
9-5077536-A-G c.1948A>G p.K650E Missense 15/25 - 1
9-5077544-A-G c.1956A>G p.E652= Synonymous 15/25 - 1
9-5077560-G-A c.1972G>A p.A658T Missense 15/25 - 1
9-5077560-G-T c.1972G>T p.A658S Missense 15/25 - 1
9-5077563-TG-GC c.1975_1976delinsGC p.W659A Missense 15/25 - 4
9-5077566-G-A c.1978G>A p.A660T Missense 15/25 - 1
9-5077571-G-A c.1983G>A p.M661I Missense 15/25 - 1
9-5077574-T-A c.1986T>A p.H662Q Missense 15/25 - 1
9-5077574-T-G c.1986T>G p.H662Q Missense 15/25 - 1
9-5078117-T-C c.1993-189T>C - IntronicSNV - 15/24 10
9-5078306-G-A c.1993G>A p.E665K Missense 16/25 - 2
9-5078306-G-T c.1993G>T p.E665* Nonsense 16/25 - 1
9-5078309-GA-AG c.1996_1997delinsAG p.E666R Missense 16/25 - 1
9-5078310-A-C c.1997A>C p.E666A Missense 16/25 - 1
9-5078325-A-G c.2012A>G p.H671R Missense 16/25 - 1
9-5078327-G-A c.2014G>A p.G672R Missense 16/25 - 1
9-5078330-A-G c.2017A>G p.N673D Missense 16/25 - 1
9-5078338-T-A c.2025T>A p.C675* Nonsense 16/25 - 1
9-5078342-A-G c.2029A>G p.K677E Missense 16/25 - 2
9-5078345-AA-GC c.2032_2033delinsGC p.N678A Missense 16/25 - 2
9-5078348-A-G c.2035A>G p.I679V Missense 16/25 - 1
9-5078351-CT-GC c.2038_2039delinsGC p.L680A Missense 16/25 - 1
9-5078352-T-C c.2039T>C p.L680P Missense 16/25 - 1
9-5078357-A-AGGACCTCCTCCCTCC c.2044_2045insGGACCTCCTCCCTCC p.I682delinsRTSSLL MultiAAMissense 16/25 - 1
9-5078357-A-T c.2044A>T p.I682F Missense 16/25 - 24
9-5078356-TATCAGAGAAGAAGAC-T c.2045_2059del p.I682_D686del InFrameDeletion 16/25 - 1
9-5078356-TATC-T c.2045_2047del p.I682del InFrameDeletion 16/25 - 1
9-5078358-T-C c.2045T>C p.I682T Missense 16/25 - 2
9-5078359-C-CGGTCCT c.2046_2047insGGTCCT p.I682_R683insGP InFrameInsertion 16/25 - 1
9-5078360-A-G c.2047A>G p.R683G Missense 16/25 - 113
9-5078361-AGAG-A c.2048_2050del p.R683_E684delinsK MultiAAMissense 16/25 - 1
9-5078361-G-A c.2048G>A p.R683K Missense 16/25 - 6
9-5078361-G-C c.2048G>C p.R683T Missense 16/25 - 7
9-5078362-A-C c.2049A>C p.R683S Missense 16/25 - 12
9-5078362-A-T c.2049A>T p.R683S Missense 16/25 - 41
9-5078363-GAA-TAT c.2050_2052delinsTAT p.E684Y Missense 16/25 - 1
9-5078363-G-C c.2050G>C p.E684Q Missense 16/25 - 1
9-5078366-G-A c.2053G>A p.E685K Missense 16/25 - 2
9-5078369-AGAC-A c.2056_2058del p.D686del InFrameDeletion 16/25 - 1
9-5078372-AG-CA c.2059_2060delinsCA p.R687Q Missense 16/25 - 4
9-5078372-AG-TA c.2059_2060delinsTA p.R687* Nonsense 16/25 - 1
9-5078384-A-C c.2071A>C p.N691H Missense 16/25 - 2
9-5078387-C-G c.2074C>G p.P692A Missense 16/25 - 1
9-5078393-T-C c.2080T>C p.F694L Missense 16/25 - 7
9-5078395-C-A c.2082C>A p.F694L Missense 16/25 - 7
9-5078395-C-G c.2082C>G p.F694L Missense 16/25 - 7
9-5078394-T-C c.2081T>C p.F694S Missense 16/25 - 1
9-5078396-A-G c.2083A>G p.I695V Missense 16/25 - 2
9-5078404-T-A c.2091T>A p.L697= Synonymous 16/25 - 1
9-5078404-T-C c.2091T>C p.L697= Synonymous 16/25 - 1
9-5078404-T-G c.2091T>G p.L697= Synonymous 16/25 - 1
9-5078405-AG-TT c.2092_2093delinsTT p.S698F Missense 16/25 - 1
9-5078408-G-A c.2095G>A p.D699N Missense 16/25 - 1
9-5078409-A-C c.2096A>C p.D699A Missense 16/25 - 1
9-5078417-A-G c.2104A>G p.I702V Missense 16/25 - 1
9-5078423-A-C c.2110A>C p.I704L Missense 16/25 - 1
9-5078427-C-A c.2114C>A p.T705K Missense 16/25 - 1
9-5078427-C-T c.2114C>T p.T705I Missense 16/25 - 1
9-5078430-T-C c.2117T>C p.V706A Missense 16/25 - 1
9-5078432-TT-GC c.2119_2120delinsGC p.L707A Missense 16/25 - 1
9-5078441-G-A c.2128G>A p.D710N Missense 16/25 - 1
9-5078450-T-G c.2131+6T>G - IntronicSNV - 16/24 1
9-5079324-A-C c.2131+880A>C - IntronicSNV - 16/24 1
9-5080231-C-T c.2134C>T p.L712F Missense 17/25 - 1
9-5080240-A-G c.2143A>G p.R715G Missense 17/25 - 1
9-5080240-AG-GC c.2143_2144delinsGC p.R715A Missense 17/25 - 1
9-5080241-G-A c.2144G>A p.R715K Missense 17/25 - 1
9-5080241-G-C c.2144G>C p.R715T Missense 17/25 - 1
9-5080256-C-T c.2159C>T p.P720L Missense 17/25 - 1
9-5080261-G-A c.2164G>A p.E722K Missense 17/25 - 1
9-5080268-T-C c.2171T>C p.I724T Missense 17/25 - 5
9-5080288-A-T c.2191A>T p.N731Y Missense 17/25 - 1
9-5080293-G-C c.2196G>C p.L732F Missense 17/25 - 1
9-5080294-G-C c.2197G>C p.A733P Missense 17/25 - 1
9-5080312-T-G c.2215T>G p.F739V Missense 17/25 - 1
9-5080312-TT-CG c.2215_2216delinsCG p.F739R Missense 17/25 - 4
9-5080316-G-A c.2219G>A p.G740D Missense 17/25 - 1
9-5080316-GT-AG c.2219_2220delinsAG p.G740E Missense 17/25 - 1
9-5080322-C-T c.2225C>T p.T742I Missense 17/25 - 1
9-5080326-G-C c.2229G>C p.L743F Missense 17/25 - 1
9-5080326-G-T c.2229G>T p.L743F Missense 17/25 - 1
9-5080330-G-A c.2233G>A p.E745K Missense 17/25 - 1
9-5080346-G-A c.2249G>A p.G750E Missense 17/25 - 1
9-5080352-A-C c.2255A>C p.K752T Missense 17/25 - 1
9-5080360-A-C c.2263A>C p.S755R Missense 17/25 - 10
9-5080362-T-A c.2265T>A p.S755R Missense 17/25 - 10
9-5080362-T-G c.2265T>G p.S755R Missense 17/25 - 10
9-5080364-C-T c.2267C>T p.A756V Missense 17/25 - 1
9-5080378-A-G c.2281A>G p.R761G Missense 17/25 - 1
9-5080381-G-C c.2283+1G>C - IntronicSNV - 17/24 1
9-5080534-A-G c.2285A>G p.K762R Missense 18/25 - 1
9-5080545-TAT-GAG c.2296_2298delinsGAG p.Y766E Missense 18/25 - 1
9-5080566-C-G c.2317C>G p.P773A Missense 18/25 - 1
9-5080572-C-T c.2323C>T p.P775S Missense 18/25 - 1
9-5080578-TG-GC c.2329_2330delinsGC p.W777A Missense 18/25 - 4
9-5080579-G-A c.2330G>A p.W777* Nonsense 18/25 - 1
9-5080580-G-A c.2331G>A p.W777* Nonsense 18/25 - 1
9-5080594-A-G c.2345A>G p.N782S Missense 18/25 - 1
9-5080596-C-A c.2347C>A p.L783I Missense 18/25 - 1
9-5080596-C-T c.2347C>T p.L783F Missense 18/25 - 1
9-5080609-G-A c.2360G>A p.C787Y Missense 18/25 - 1
9-5080612-T-C c.2363T>C p.M788T Missense 18/25 - 1
9-5080613-G-A c.2364G>A p.M788I Missense 18/25 - 1
9-5080613-G-C c.2364G>C p.M788I Missense 18/25 - 1
9-5080613-G-T c.2364G>T p.M788I Missense 18/25 - 1
9-5080614-G-A c.2365G>A p.D789N Missense 18/25 - 1
9-5080614-G-T c.2365G>T p.D789Y Missense 18/25 - 1
9-5080617-TAT-GAG c.2368_2370delinsGAG p.Y790E Missense 18/25 - 1
9-5080618-A-T c.2369A>T p.Y790F Missense 18/25 - 1
9-5080622-A-G c.2373A>G p.E791= Synonymous 18/25 - 1
9-5080623-C-T c.2374C>T p.P792S Missense 18/25 - 1
9-5080624-C-T c.2375C>T p.P792L Missense 18/25 - 1
9-5080629-TT-CA c.2380_2381delinsCA p.F794H Missense 18/25 - 4
9-5080629-TTC-CAA c.2380_2382delinsCAA p.F794Q Missense 18/25 - 1
9-5080634-G-T c.2385G>T p.R795S Missense 18/25 - 2
9-5080639-C-G c.2390C>G p.S797C Missense 18/25 - 2
9-5080645-GA-TG c.2396_2397delinsTG p.R799M Missense 18/25 - 1
9-5080650-A-C c.2401A>C p.I801L Missense 18/25 - 1
9-5080651-T-G c.2402T>G p.I801S Missense 18/25 - 1
9-5080657-G-A c.2408G>A p.R803Q Missense 18/25 - 2
9-5080660-A-G c.2411A>G p.D804G Missense 18/25 - 1
9-5080669-G-A c.2420G>A p.S807N Missense 18/25 - 1
9-5080672-T-G c.2423T>G p.L808W Missense 18/25 - 3
9-5080674-T-A c.2425T>A p.F809I Missense 18/25 - 1
9-5080677-A-T c.2428A>T p.T810S Missense 18/25 - 1
9-5080678-C-G c.2429C>G p.T810S Missense 18/25 - 1
9-5080680-C-T c.2431C>T p.P811S Missense 18/25 - 1
9-5080683-G-T c.2434G>T p.D812Y Missense 18/25 - 1
9-5081334-C-G c.2435-391C>G - IntronicSNV - 18/24 2
9-5081334-C-T c.2435-391C>T - IntronicSNV - 18/24 2
9-5081585-A-G c.2435-140A>G - IntronicSNV - 18/24 1
9-5081728-A-T c.2438A>T p.Y813F Missense 19/25 - 7
9-5081730-GA-TC c.2440_2441inv p.E814S Missense 19/25 - 1
9-5081734-T-C c.2444T>C p.L815P Missense 19/25 - 3
9-5081748-G-T c.2458G>T p.D820Y Missense 19/25 - 1
9-5081775-G-A c.2485G>A p.A829T Missense 19/25 - 1
9-5081778-C-T c.2488C>T p.L830= Synonymous 19/25 - 1
9-5081780-G-A c.2490G>A p.L830= Synonymous 19/25 - 11
9-5081780-G-C c.2490G>C p.L830= Synonymous 19/25 - 4
9-5081780-G-T c.2490G>T p.L830= Synonymous 19/25 - 1
9-5081781-G-A c.2491G>A p.G831R Missense 19/25 - 1
9-5081781-G-C c.2491G>C p.G831R Missense 19/25 - 1
9-5081781-G-T c.2491G>T p.G831W Missense 19/25 - 1
9-5081793-G-A c.2503G>A p.A835T Missense 19/25 - 3
9-5081793-G-T c.2503G>T p.A835S Missense 19/25 - 2
9-5081794-C-G c.2504C>G p.A835G Missense 19/25 - 1
9-5081805-C-A c.2515C>A p.R839= Synonymous 19/25 - 1
9-5081805-C-T c.2515C>T p.R839W Missense 19/25 - 1
9-5081807-G-A c.2517G>A p.R839= Synonymous 19/25 - 1
9-5081807-G-C c.2517G>C p.R839= Synonymous 19/25 - 1
9-5081807-G-T c.2517G>T p.R839= Synonymous 19/25 - 1
9-5081808-G-A c.2518G>A p.D840N Missense 19/25 - 2
9-5081816-A-C c.2526A>C p.T842= Synonymous 19/25 - 1
9-5081816-A-G c.2526A>G p.T842= Synonymous 19/25 - 1
9-5081816-A-T c.2526A>T p.T842= Synonymous 19/25 - 1
9-5081820-T-C c.2530T>C p.F844L Missense 19/25 - 1
9-5081826-G-A c.2536G>A p.E846K Missense 19/25 - 1
9-5081828-G-C c.2538G>C p.E846D Missense 19/25 - 9
9-5081828-G-T c.2538G>T p.E846D Missense 19/25 - 6
9-5081830-G-A c.2540G>A p.R847K Missense 19/25 - 1
9-5081837-G-C c.2547G>C p.L849F Missense 19/25 - 1
9-5081837-G-T c.2547G>T p.L849F Missense 19/25 - 1
9-5081845-T-A c.2555T>A p.L852Q Missense 19/25 - 1
9-5081848-A-C c.2558A>C p.Q853P Missense 19/25 - 1
9-5081859-AA-GC c.2569_2570delinsGC p.K857A Missense 19/25 - 1
9-5082106-G-T c.2571+245G>T - IntronicSNV - 19/24 2
9-5082333-A-G c.2571+472A>G - IntronicSNV - 19/24 1
9-5083173-C-T c.2571+1312C>T - IntronicSNV - 19/24 2
9-5083533-C-G c.2571+1672C>G - IntronicSNV - 19/24 1
9-5083533-C-T c.2571+1672C>T - IntronicSNV - 19/24 1
9-5084049-G-A c.2571+2188G>A - IntronicSNV - 19/24 10
9-5084049-G-T c.2571+2188G>T - IntronicSNV - 19/24 10
9-5084837-T-A c.2571+2976T>A - IntronicSNV - 19/24 3
9-5085859-G-C c.2572-3815G>C - IntronicSNV - 19/24 1
9-5085859-G-T c.2572-3815G>T - IntronicSNV - 19/24 1
9-5087087-C-T c.2572-2587C>T - IntronicSNV - 19/24 2
9-5087474-A-ACTAGTAGTTCTTTTACT c.2572-2198_2572-2197insAGTAGTTCTTTTACTCT - IntronicInsertion - 19/24 1
9-5087474-A-ACTGGTAGTT c.2572-2198_2572-2197insGGTAGTTCT - IntronicInsertion - 19/24 1
9-5087474-A-ACTGGTAGTTATTTTACT c.2572-2198_2572-2197insGGTAGTTATTTTACTCT - IntronicInsertion - 19/24 1
9-5087474-A-ACTGGTAGTTCCTTTACT c.2572-2198_2572-2197insGGTAGTTCCTTTACTCT - IntronicInsertion - 19/24 1
9-5087474-A-ACTGGTAGTTCTTTTACT c.2572-2198_2572-2197insGGTAGTTCTTTTACTCT - IntronicInsertion - 19/24 1
9-5087474-A-ACTGGTAGTTCTTTTCTTTTACT c.2572-2198_2572-2197insGGTAGTTCTTTTCTTTTACTCT - IntronicInsertion - 19/24 1
9-5087474-A-ACTGGTAGTTCTTTTGCT c.2572-2198_2572-2197insGGTAGTTCTTTTGCTCT - IntronicInsertion - 19/24 1
9-5087495-C-G c.2572-2179C>G - IntronicSNV - 19/24 2
9-5087495-C-T c.2572-2179C>T - IntronicSNV - 19/24 2
9-5088903-T-A c.2572-771T>A - IntronicSNV - 19/24 2
9-5088903-T-C c.2572-771T>C - IntronicSNV - 19/24 2
9-5089661-A-G c.2572-13A>G - IntronicSNV - 19/24 1
9-5089674-G-A c.2572G>A p.G858S Missense 20/25 - 1
9-5089675-G-T c.2573G>T p.G858V Missense 20/25 - 1
9-5089679-T-C c.2577T>C p.N859= Synonymous 20/25 - 1
9-5089683-G-T c.2581G>T p.G861W Missense 20/25 - 2
9-5089692-G-A c.2590G>A p.E864K Missense 20/25 - 10
9-5089698-T-A c.2596T>A p.C866S Missense 20/25 - 2
9-5089698-TG-GC c.2596_2597delinsGC p.C866A Missense 20/25 - 1
9-5089699-G-C c.2597G>C p.C866S Missense 20/25 - 2
9-5089701-C-T c.2599C>T p.R867W Missense 20/25 - 2
9-5089702-G-A c.2600G>A p.R867Q Missense 20/25 - 34
9-5089705-A-G c.2603A>G p.Y868C Missense 20/25 - 1
9-5089705-A-T c.2603A>T p.Y868F Missense 20/25 - 3
9-5089710-C-T c.2608C>T p.P870S Missense 20/25 - 1
9-5089713-CT-AC c.2611_2612delinsAC p.L871T Missense 20/25 - 2
9-5089714-T-C c.2612T>C p.L871P Missense 20/25 - 1
9-5089719-G-A c.2617G>A p.D873N Missense 20/25 - 14
9-5089719-GAC-AAG c.2617_2619delinsAAG p.D873K Missense 20/25 - 1
9-5089719-GA-CG c.2617_2618delinsCG p.D873R Missense 20/25 - 1
9-5089721-C-A c.2619C>A p.D873E Missense 20/25 - 1
9-5089721-C-G c.2619C>G p.D873E Missense 20/25 - 1
9-5089725-A-G c.2623A>G p.T875A Missense 20/25 - 1
9-5089726-C-A c.2624C>A p.T875N Missense 20/25 - 47
9-5089744-T-C c.2642T>C p.V881A Missense 20/25 - 1
9-5089746-AAA-GAC c.2644_2646delinsGAC p.K882D Missense 20/25 - 2
9-5089746-AA-GC c.2644_2645delinsGC p.K882A Missense 20/25 - 3
9-5089746-A-G c.2644A>G p.K882E Missense 20/25 - 19
9-5089747-A-G c.2645A>G p.K882R Missense 20/25 - 4
9-5089749-A-G c.2647A>G p.K883E Missense 20/25 - 2
9-5089752-CT-AG c.2650_2651inv p.L884S Missense 20/25 - 1
9-5089753-T-C c.2651T>C p.L884P Missense 20/25 - 10
9-5089770-G-A c.2668G>A p.E890K Missense 20/25 - 3
9-5089770-G-T c.2668G>T p.E890* Nonsense 20/25 - 1
9-5089771-A-G c.2669A>G p.E890G Missense 20/25 - 1
9-5089771-A-T c.2669A>T p.E890V Missense 20/25 - 1
9-5089776-C-G c.2674C>G p.L892V Missense 20/25 - 2
9-5089777-CTAAGAGACTTTGAAAGGGAAATT-C c.2675_2697del p.L892Rfs*9 Frameshift 20/25 - 1
9-5089780-G-C c.2678G>C p.R893T Missense 20/25 - 1
9-5089783-A-G c.2681A>G p.D894G Missense 20/25 - 3
9-5089789-A-C c.2687A>C p.E896A Missense 20/25 - 1
9-5089798-T-A c.2696T>A p.I899N Missense 20/25 - 1
9-5089798-T-C c.2696T>C p.I899T Missense 20/25 - 3
9-5089799-T-A c.2697T>A p.I899= Synonymous 20/25 - 1
9-5089799-T-TA c.2697_2698insA p.E900Rfs*9 Frameshift 20/25 - 1
9-5089800-G-A c.2698G>A p.E900K Missense 20/25 - 1
9-5089800-G-C c.2698G>C p.E900Q Missense 20/25 - 1
9-5089801-A-C c.2699A>C p.E900A Missense 20/25 - 1
9-5089803-AT-GC c.2701_2702delinsGC p.I901A Missense 20/25 - 1
9-5089805-TCCTG-T c.2703_2706del p.L902Nfs*9 Frameshift 20/25 - 1
9-5089806-C-A c.2704C>A p.L902M Missense 20/25 - 2
9-5089809-A-AAATTTTAT c.2710_2711insTTTATAAT p.S904Ffs*11 Frameshift 20/25 - 1
9-5089812-T-C c.2710T>C p.S904P Missense 20/25 - 1
9-5089812-TC-CT c.2710_2711delinsCT p.S904L Missense 20/25 - 1
9-5089813-C-T c.2711C>T p.S904F Missense 20/25 - 1
9-5089815-C-A c.2713C>A p.L905I Missense 20/25 - 1
9-5089816-T-C c.2714T>C p.L905P Missense 20/25 - 1
9-5089821-C-A c.2719C>A p.H907N Missense 20/25 - 1
9-5089829-C-A c.2727C>A p.N909K Missense 20/25 - 1
9-5089829-C-G c.2727C>G p.N909K Missense 20/25 - 1
9-5089833-G-C c.2731G>C p.V911L Missense 20/25 - 1
9-5089833-G-T c.2731G>T p.V911L Missense 20/25 - 1
9-5089840-A-T c.2738A>T p.Y913F Missense 20/25 - 2
9-5089842-A-G c.2740A>G p.K914E Missense 20/25 - 1
9-5089845-G-A c.2743G>A p.G915R Missense 20/25 - 1
9-5089851-T-A c.2749T>A p.C917S Missense 20/25 - 1
9-5089851-TG-GC c.2749_2750delinsGC p.C917A Missense 20/25 - 1
9-5089852-G-C c.2750G>C p.C917S Missense 20/25 - 1
9-5089854-T-C c.2752T>C p.Y918H Missense 20/25 - 1
9-5089855-A-T c.2753A>T p.Y918F Missense 20/25 - 3
9-5089857-AG-CC c.2755_2756delinsCC p.S919P Missense 20/25 - 1
9-5089858-G-T c.2756G>T p.S919I Missense 20/25 - 1
9-5089861-C-T c.2759C>T p.A920V Missense 20/25 - 2
9-5090446-G-C c.2762G>C p.G921A Missense 21/25 - 2
9-5090448-C-T c.2764C>T p.R922W Missense 21/25 - 2
9-5090449-G-A c.2765G>A p.R922Q Missense 21/25 - 1
9-5090451-C-T c.2767C>T p.R923C Missense 21/25 - 3
9-5090452-G-A c.2768G>A p.R923H Missense 21/25 - 4
9-5090455-A-C c.2771A>C p.N924T Missense 21/25 - 1
9-5090457-C-A c.2773C>A p.L925I Missense 21/25 - 1
9-5090471-G-A c.2787G>A p.M929I Missense 21/25 - 4
9-5090471-G-C c.2787G>C p.M929I Missense 21/25 - 4
9-5090471-G-T c.2787G>T p.M929I Missense 21/25 - 4
9-5090473-A-G c.2789A>G p.E930G Missense 21/25 - 2
9-5090476-A-C c.2792A>C p.Y931S Missense 21/25 - 1
9-5090476-A-G c.2792A>G p.Y931C Missense 21/25 - 22
9-5090476-A-T c.2792A>T p.Y931F Missense 21/25 - 3
9-5090478-T-C c.2794T>C p.L932= Synonymous 21/25 - 1
9-5090480-A-G c.2796A>G p.L932= Synonymous 21/25 - 1
9-5090480-A-C c.2796A>C p.L932F Missense 21/25 - 1
9-5090480-A-T c.2796A>T p.L932F Missense 21/25 - 1
9-5090481-CC-GA c.2797_2798delinsGA p.P933E Missense 21/25 - 1
9-5090481-C-G c.2797C>G p.P933A Missense 21/25 - 1
9-5090482-C-A c.2798C>A p.P933Q Missense 21/25 - 1
9-5090482-C-G c.2798C>G p.P933R Missense 21/25 - 14
9-5090485-A-T c.2801A>T p.Y934F Missense 21/25 - 3
9-5090487-G-A c.2803G>A p.G935R Missense 21/25 - 16
9-5090487-G-C c.2803G>C p.G935R Missense 21/25 - 15
9-5090487-GGA-CAT c.2803_2805delinsCAT p.G935H Missense 21/25 - 1
9-5090487-GG-CA c.2803_2804delinsCA p.G935Q Missense 21/25 - 1
9-5090496-C-T c.2812C>T p.R938* Nonsense 21/25 - 3
9-5090497-G-A c.2813G>A p.R938Q Missense 21/25 - 13
9-5090497-G-T c.2813G>T p.R938L Missense 21/25 - 6
9-5090503-A-G c.2819A>G p.Y940C Missense 21/25 - 1
9-5090503-A-T c.2819A>T p.Y940F Missense 21/25 - 2
9-5090523-CG-GA c.2839_2840delinsGA p.R947E Missense 21/25 - 2
9-5090524-G-A c.2840G>A p.R947Q Missense 21/25 - 1
9-5090524-G-T c.2840G>T p.R947L Missense 21/25 - 1
9-5090541-C-A c.2857C>A p.L953I Missense 21/25 - 1
9-5090545-T-G c.2861T>G p.L954R Missense 21/25 - 1
9-5090546-G-A c.2862G>A p.L954= Synonymous 21/25 - 1
9-5090547-C-T c.2863C>T p.Q955* Nonsense 21/25 - 1
9-5090548-A-G c.2864A>G p.Q955R Missense 21/25 - 2
9-5090551-A-T c.2867A>T p.Y956F Missense 21/25 - 2
9-5090560-A-C c.2876A>C p.Q959P Missense 21/25 - 2
9-5090562-A-G c.2878A>G p.I960V Missense 21/25 - 6
9-5090609-C-A c.2886+39C>A - IntronicSNV - 21/24 1
9-5090608-AC-A c.2886+40del - IntronicDeletion - 21/24 1
9-5090641-G-A c.2886+71G>A - IntronicSNV - 21/24 1
9-5090740-G-T c.2888G>T p.G963V Missense 22/25 - 1
9-5090745-G-A c.2893G>A p.E965K Missense 22/25 - 1
9-5090745-G-T c.2893G>T p.E965* Nonsense 22/25 - 1
9-5090748-TAT-GAG c.2896_2898delinsGAG p.Y966E Missense 22/25 - 1
9-5090749-A-T c.2897A>T p.Y966F Missense 22/25 - 2
9-5090758-CA-C c.2911del p.R971Gfs*27 Frameshift 22/25 - 1
9-5090763-A-G c.2911A>G p.R971G Missense 22/25 - 1
9-5090763-AG-GC c.2911_2912delinsGC p.R971A Missense 22/25 - 1
9-5090767-A-T c.2915A>T p.Y972F Missense 22/25 - 2
9-5090769-AT-GC c.2917_2918delinsGC p.I973A Missense 22/25 - 1
9-5090775-A-G c.2923A>G p.R975G Missense 22/25 - 1
9-5090778-G-A c.2926G>A p.D976N Missense 22/25 - 2
9-5090781-CT-GC c.2929_2930delinsGC p.L977A Missense 22/25 - 1
9-5090790-AGA-TGG c.2938_2940delinsTGG p.R980W Missense 22/25 - 1
9-5090794-A-G c.2942A>G p.N981S Missense 22/25 - 1
9-5090794-A-T c.2942A>T p.N981I Missense 22/25 - 1
9-5090796-A-G c.2944A>G p.I982V Missense 22/25 - 1
9-5090801-G-C c.2949G>C p.L983F Missense 22/25 - 3
9-5090801-G-T c.2949G>T p.L983F Missense 22/25 - 3
9-5090802-G-A c.2950G>A p.V984M Missense 22/25 - 1
9-5090805-G-A c.2953G>A p.E985K Missense 22/25 - 6
9-5090808-A-T c.2956A>T p.N986Y Missense 22/25 - 1
9-5090810-C-A c.2958C>A p.N986K Missense 22/25 - 1
9-5090810-C-G c.2958C>G p.N986K Missense 22/25 - 1
9-5090811-G-A c.2959G>A p.E987K Missense 22/25 - 1
9-5090811-G-C c.2959G>C p.E987Q Missense 22/25 - 1
9-5090813-G-C c.2961G>C p.E987D Missense 22/25 - 1
9-5090813-G-T c.2961G>T p.E987D Missense 22/25 - 1
9-5090823-AA-GC c.2971_2972delinsGC p.K991A Missense 22/25 - 1
9-5090830-G-C c.2978G>C p.G993A Missense 22/25 - 3
9-5090832-G-A c.2980G>A p.D994N Missense 22/25 - 2
9-5090833-GA-G c.2981del p.D994Vfs*4 Frameshift 22/25 - 1
9-5090838-G-A c.2986G>A p.G996R Missense 22/25 - 1
9-5090838-G-C c.2986G>C p.G996R Missense 22/25 - 1
9-5090848-A-G c.2996A>G p.K999R Missense 22/25 - 1
9-5090854-T-A c.3002T>A p.L1001* Nonsense 22/25 - 1
9-5090854-T-G c.3002T>G p.L1001W Missense 22/25 - 1
9-5090856-C-T c.3004C>T p.P1002S Missense 22/25 - 2
9-5090857-C-A c.3005C>A p.P1002Q Missense 22/25 - 1
9-5090868-G-A c.3016G>A p.E1006K Missense 22/25 - 1
9-5090869-A-C c.3017A>C p.E1006A Missense 22/25 - 1
9-5090872-A-G c.3020A>G p.Y1007C Missense 22/25 - 1
9-5090872-A-T c.3020A>T p.Y1007F Missense 22/25 - 9
9-5090875-A-T c.3023A>T p.Y1008F Missense 22/25 - 4
9-5090877-AAA-GAC c.3025_3027delinsGAC p.K1009D Missense 22/25 - 1
9-5090877-AA-GC c.3025_3026delinsGC p.K1009A Missense 22/25 - 1
9-5090883-AA-GC c.3031_3032delinsGC p.K1011A Missense 22/25 - 1
9-5090889-C-T c.3037C>T p.P1013S Missense 22/25 - 1
9-5090890-C-T c.3038C>T p.P1013L Missense 22/25 - 1
9-5090895-G-A c.3043G>A p.E1015K Missense 22/25 - 1
9-5090904-ATA-TTT c.3052_3054delinsTTT p.I1018F Missense 22/25 - 1
9-5090907-T-C c.3055T>C p.F1019L Missense 22/25 - 1
9-5090909-C-A c.3057C>A p.F1019L Missense 22/25 - 1
9-5090909-C-G c.3057C>G p.F1019L Missense 22/25 - 1
9-5090934-A-C c.3059+23A>C - IntronicSNV - 22/24 1
9-5090934-A-T c.3059+23A>T - IntronicSNV - 22/24 3
9-5090966-ATTG-A c.3059+61_3059+63del - IntronicDeletion - 22/24 1
9-5091675-G-A c.3059+764G>A - IntronicSNV - 22/24 3
9-5094539-G-A c.3059+3628G>A - IntronicSNV - 22/24 2
9-5097281-A-C c.3059+6370A>C - IntronicSNV - 22/24 4
9-5097544-C-T c.3059+6633C>T - IntronicSNV - 22/24 2
9-5098223-T-C c.3059+7312T>C - IntronicSNV - 22/24 2
9-5098346-T-A c.3059+7435T>A - IntronicSNV - 22/24 1
9-5098411-G-A c.3059+7500G>A - IntronicSNV - 22/24 1
9-5098411-G-C c.3059+7500G>C - IntronicSNV - 22/24 1
9-5100291-C-G c.3059+9380C>G - IntronicSNV - 22/24 1
9-5100628-T-C c.3059+9717T>C - IntronicSNV - 22/24 1
9-5106023-A-G c.3059+15112A>G - IntronicSNV - 22/24 1
9-5106023-A-T c.3059+15112A>T - IntronicSNV - 22/24 1
9-5106610-C-T c.3059+15699C>T - IntronicSNV - 22/24 1
9-5107394-A-G c.3060-15610A>G - IntronicSNV - 22/24 3
9-5107394-A-T c.3060-15610A>T - IntronicSNV - 22/24 3
9-5108771-G-C c.3060-14233G>C - IntronicSNV - 22/24 1
9-5109431-G-A c.3060-13573G>A - IntronicSNV - 22/24 1
9-5109531-C-T c.3060-13473C>T - IntronicSNV - 22/24 1
9-5109707-A-G c.3060-13297A>G - IntronicSNV - 22/24 1
9-5112288-C-T c.3060-10716C>T - IntronicSNV - 22/24 6
9-5112519-G-A c.3060-10485G>A - IntronicSNV - 22/24 8
9-5112844-G-A c.3060-10160G>A - IntronicSNV - 22/24 1
9-5113452-C-A c.3060-9552C>A - IntronicSNV - 22/24 1
9-5113452-C-T c.3060-9552C>T - IntronicSNV - 22/24 1
9-5113577-C-T c.3060-9427C>T - IntronicSNV - 22/24 2
9-5114523-A-C c.3060-8481A>C - IntronicSNV - 22/24 3
9-5114722-A-G c.3060-8282A>G - IntronicSNV - 22/24 1
9-5116616-T-G c.3060-6388T>G - IntronicSNV - 22/24 6
9-5120157-C-A c.3060-2847C>A - IntronicSNV - 22/24 1
9-5121070-A-T c.3060-1934A>T - IntronicSNV - 22/24 3
9-5122291-G-C c.3060-713G>C - IntronicSNV - 22/24 1
9-5122932-A-G c.3060-72A>G - IntronicSNV - 22/24 1
9-5123004-G-C c.3060G>C p.W1020C Missense 23/25 - 1
9-5123004-G-T c.3060G>T p.W1020C Missense 23/25 - 1
9-5123005-T-C c.3061T>C p.Y1021H Missense 23/25 - 1
9-5123006-A-G c.3062A>G p.Y1021C Missense 23/25 - 1
9-5123006-A-T c.3062A>T p.Y1021F Missense 23/25 - 2
9-5123009-C-G c.3065C>G p.A1022G Missense 23/25 - 1
9-5123014-G-A c.3070G>A p.E1024K Missense 23/25 - 2
9-5123014-GA-AG c.3070_3071delinsAG p.E1024R Missense 23/25 - 1
9-5123018-CA-GT c.3074_3075delinsGT p.S1025C Missense 23/25 - 1
9-5123020-C-A c.3076C>A p.L1026M Missense 23/25 - 1
9-5123020-CT-GG c.3076_3077delinsGG p.L1026G Missense 23/25 - 1
9-5123020-CTG-TTT c.3076_3078delinsTTT p.L1026F Missense 23/25 - 1
9-5123024-C-T c.3080C>T p.T1027I Missense 23/25 - 3
9-5123026-G-C c.3082G>C p.E1028Q Missense 23/25 - 1
9-5123027-A-C c.3083A>C p.E1028A Missense 23/25 - 1
9-5123027-A-T c.3083A>T p.E1028V Missense 23/25 - 1
9-5123032-AA-GC c.3088_3089delinsGC p.K1030A Missense 23/25 - 1
9-5123033-A-G c.3089A>G p.K1030R Missense 23/25 - 1
9-5123042-T-C c.3098T>C p.V1033A Missense 23/25 - 1
9-5123056-T-G c.3112T>G p.W1038G Missense 23/25 - 1
9-5123058-G-C c.3114G>C p.W1038C Missense 23/25 - 1
9-5123058-G-T c.3114G>T p.W1038C Missense 23/25 - 1
9-5123059-AG-TT c.3115_3116delinsTT p.S1039F Missense 23/25 - 1
9-5123064-T-A c.3120T>A p.F1040L Missense 23/25 - 1
9-5123065-G-A c.3121G>A p.G1041R Missense 23/25 - 1
9-5123065-G-C c.3121G>C p.G1041R Missense 23/25 - 1
9-5123066-GGAGTGGTTCTGTATGAACTTTTC-G c.3122_3144del p.G1041Dfs*4 Frameshift 23/25 - 1
9-5123068-GTG-TTT c.3124_3126delinsTTT p.V1042F Missense 23/25 - 1
9-5123078-A-T c.3134A>T p.Y1045F Missense 23/25 - 5
9-5123078-AT-GG c.3134_3135delinsGG p.Y1045W Missense 23/25 - 1
9-5123079-T-A c.3135T>A p.Y1045* Nonsense 23/25 - 1
9-5123079-T-G c.3135T>G p.Y1045* Nonsense 23/25 - 1
9-5123080-G-A c.3136G>A p.E1046K Missense 23/25 - 1
9-5123080-GA-AG c.3136_3137delinsAG p.E1046R Missense 23/25 - 1
9-5123093-A-T c.3149A>T p.Y1050F Missense 23/25 - 2
9-5123107-A-T c.3163A>T p.K1055* Nonsense 23/25 - 1
9-5123108-A-G c.3164A>G p.K1055R Missense 23/25 - 1
9-5123111-G-C c.3167G>C p.S1056T Missense 23/25 - 1
9-5123113-C-T c.3169C>T p.P1057S Missense 23/25 - 1
9-5123114-C-A c.3170C>A p.P1057Q Missense 23/25 - 1
9-5123114-C-T c.3170C>T p.P1057L Missense 23/25 - 1
9-5123116-C-A c.3172C>A p.P1058T Missense 23/25 - 1
9-5123116-CCA-TTT c.3172_3174delinsTTT p.P1058F Missense 23/25 - 1
9-5123120-C-G c.3176C>G p.A1059G Missense 23/25 - 1
9-5123120-C-T c.3176C>T p.A1059V Missense 23/25 - 1
9-5123121-G-A c.3177G>A p.A1059= Synonymous 23/25 - 2
9-5126337-TT-GG c.3182_3183delinsGG p.F1061W Missense 24/25 - 1
9-5126342-C-T c.3187C>T p.R1063C Missense 24/25 - 2
9-5126343-G-A c.3188G>A p.R1063H Missense 24/25 - 20
9-5126343-G-C c.3188G>C p.R1063P Missense 24/25 - 2
9-5126366-G-A c.3211G>A p.G1071R Missense 24/25 - 1
9-5126366-G-C c.3211G>C p.G1071R Missense 24/25 - 1
9-5126367-G-A c.3212G>A p.G1071E Missense 24/25 - 2
9-5126367-GA-AC c.3212_3213delinsAC p.G1071D Missense 24/25 - 1
9-5126367-G-T c.3212G>T p.G1071V Missense 24/25 - 1
9-5126375-A-T c.3220A>T p.I1074F Missense 24/25 - 1
9-5126378-GTG-TTT c.3223_3225delinsTTT p.V1075F Missense 24/25 - 1
9-5126381-T-C c.3226T>C p.F1076L Missense 24/25 - 1
9-5126388-T-C c.3233T>C p.L1078S Missense 24/25 - 1
9-5126390-A-C c.3235A>C p.I1079L Missense 24/25 - 1
9-5126390-A-T c.3235A>T p.I1079L Missense 24/25 - 1
9-5126392-A-C c.3237A>C p.I1079= Synonymous 24/25 - 1
9-5126393-G-A c.3238G>A p.E1080K Missense 24/25 - 2
9-5126399-TT-AG c.3244_3245delinsAG p.L1082R Missense 24/25 - 1
9-5126409-A-G c.3254A>G p.N1085S Missense 24/25 - 1
9-5126411-G-T c.3256G>T p.G1086* Nonsense 24/25 - 1
9-5126412-G-A c.3257G>A p.G1086E Missense 24/25 - 1
9-5126414-A-G c.3259A>G p.R1087G Missense 24/25 - 1
9-5126435-T-A c.3280T>A p.C1094S Missense 24/25 - 1
9-5126435-TG-GC c.3280_3281delinsGC p.C1094A Missense 24/25 - 1
9-5126436-G-C c.3281G>C p.C1094S Missense 24/25 - 1
9-5126443-T-A c.3288T>A p.D1096E Missense 24/25 - 2
9-5126444-G-T c.3289G>T p.E1097* Nonsense 24/25 - 1
9-5126452-A-C c.3291+6A>C - IntronicSNV - 24/24 1
9-5126542-T-G c.3291+96T>G - IntronicSNV - 24/24 1
9-5126688-A-G c.3296A>G p.Y1099C Missense 25/25 - 1
9-5126688-A-T c.3296A>T p.Y1099F Missense 25/25 - 3
9-5126698-G-T c.3306G>T p.M1102I Missense 25/25 - 1
9-5126705-T-A c.3313T>A p.C1105S Missense 25/25 - 1
9-5126705-TG-GC c.3313_3314delinsGC p.C1105A Missense 25/25 - 1
9-5126706-G-C c.3314G>C p.C1105S Missense 25/25 - 1
9-5126715-A-G c.3323A>G p.N1108S Missense 25/25 - 5
9-5126726-C-T c.3334C>T p.Q1112* Nonsense 25/25 - 1
9-5126729-C-T c.3337C>T p.R1113C Missense 25/25 - 1
9-5126730-G-A c.3338G>A p.R1113H Missense 25/25 - 3
9-5126736-C-G c.3344C>G p.S1115C Missense 25/25 - 1
9-5126741-A-G c.3349A>G p.R1117G Missense 25/25 - 1
9-5126744-G-C c.3352G>C p.D1118H Missense 25/25 - 3
9-5126757-G-C c.3365G>C p.R1122P Missense 25/25 - 2
9-5126772-G-A c.3380G>A p.R1127K Missense 25/25 - 1
9-5126778-A-G c.3386A>G p.N1129S Missense 25/25 - 2
9-5126781-T-C c.3389T>C p.M1130T Missense 25/25 - 1