JAK2

JAK2 Janus kinase 2

Annotation transcript: NM_004972.4

3901 unique variant annotations were identified in 2618 publications

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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 - 9
9-4985879-A-G c.-108-61A>G - intron_variant - 1/24 11
9-4987797-T-A c.-26+1775T>A - intron_variant - 2/24 1
9-4987958-C-T c.-26+1936C>T - intron_variant - 2/24 2
9-4988048-G-C c.-26+2026G>C - intron_variant - 2/24 1
9-4988341-C-T c.-26+2319C>T - intron_variant - 2/24 1
9-4988657-T-C c.-26+2635T>C - intron_variant - 2/24 1
9-4988683-C-G c.-26+2661C>G - intron_variant - 2/24 1
9-4988683-C-T c.-26+2661C>T - intron_variant - 2/24 1
9-4988761-C-T c.-26+2739C>T - intron_variant - 2/24 13
9-4991379-G-A c.-26+5357G>A - intron_variant - 2/24 1
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
9-4997333-A-G c.-26+11311A>G - intron_variant - 2/24 1
9-4997333-A-T c.-26+11311A>T - intron_variant - 2/24 1
9-4998401-C-T c.-26+12379C>T - intron_variant - 2/24 4
9-4998639-A-C c.-26+12617A>C - intron_variant - 2/24 2
9-4998639-A-G c.-26+12617A>G - intron_variant - 2/24 2
9-4998855-G-A c.-26+12833G>A - intron_variant - 2/24 1
9-4998855-G-C c.-26+12833G>C - intron_variant - 2/24 1
9-4998855-G-T c.-26+12833G>T - intron_variant - 2/24 1
9-4999303-A-G c.-26+13281A>G - intron_variant - 2/24 7
9-5000155-T-G c.-26+14133T>G - intron_variant - 2/24 1
9-5000811-A-G c.-26+14789A>G - intron_variant - 2/24 4
9-5001269-C-A c.-26+15247C>A - intron_variant - 2/24 1
9-5002011-C-T c.-26+15989C>T - intron_variant - 2/24 1
9-5002332-T-A c.-26+16310T>A - intron_variant - 2/24 1
9-5002911-C-A c.-26+16889C>A - intron_variant - 2/24 1
9-5002911-C-G c.-26+16889C>G - intron_variant - 2/24 1
9-5002911-C-T c.-26+16889C>T - intron_variant - 2/24 1
9-5003338-G-A c.-26+17316G>A - intron_variant - 2/24 3
9-5003338-G-C c.-26+17316G>C - intron_variant - 2/24 3
9-5003973-G-T c.-26+17951G>T - intron_variant - 2/24 5
9-5005034-A-T c.-25-16929A>T - IntronicSNV - 2/24 5
9-5005040-T-A c.-25-16923T>A - IntronicSNV - 2/24 1
9-5005040-T-C c.-25-16923T>C - IntronicSNV - 2/24 1
9-5006345-G-C c.-25-15618G>C - IntronicSNV - 2/24 1
9-5006345-G-T c.-25-15618G>T - IntronicSNV - 2/24 1
9-5006743-T-G c.-25-15220T>G - IntronicSNV - 2/24 1
9-5007138-C-T c.-25-14825C>T - IntronicSNV - 2/24 1
9-5008070-C-A c.-25-13893C>A - IntronicSNV - 2/24 3
9-5008070-C-T c.-25-13893C>T - IntronicSNV - 2/24 3
9-5009541-G-A c.-25-12422G>A - IntronicSNV - 2/24 1
9-5010091-G-A c.-25-11872G>A - IntronicSNV - 2/24 2
9-5010192-G-A c.-25-11771G>A - IntronicSNV - 2/24 8
9-5010751-C-A c.-25-11212C>A - IntronicSNV - 2/24 3
9-5010885-A-C c.-25-11078A>C - IntronicSNV - 2/24 1
9-5010885-A-T c.-25-11078A>T - IntronicSNV - 2/24 1
9-5011795-C-T c.-25-10168C>T - IntronicSNV - 2/24 1
9-5012696-A-G c.-25-9267A>G - IntronicSNV - 2/24 1
9-5013309-G-A c.-25-8654G>A - IntronicSNV - 2/24 1
9-5014332-G-A c.-25-7631G>A - IntronicSNV - 2/24 3
9-5015143-G-A c.-25-6820G>A - IntronicSNV - 2/24 1
9-5015143-G-T c.-25-6820G>T - IntronicSNV - 2/24 1
9-5015732-C-A c.-25-6231C>A - IntronicSNV - 2/24 6
9-5015901-T-A c.-25-6062T>A - IntronicSNV - 2/24 4
9-5015901-T-C c.-25-6062T>C - IntronicSNV - 2/24 4
9-5015901-T-G c.-25-6062T>G - IntronicSNV - 2/24 4
9-5016145-C-T c.-25-5818C>T - IntronicSNV - 2/24 1
9-5016455-A-T c.-25-5508A>T - IntronicSNV - 2/24 1
9-5016818-A-G c.-25-5145A>G - IntronicSNV - 2/24 1
9-5017350-G-A c.-25-4613G>A - IntronicSNV - 2/24 3
9-5017384-C-A c.-25-4579C>A - IntronicSNV - 2/24 2
9-5017384-C-T c.-25-4579C>T - IntronicSNV - 2/24 2
9-5018041-G-A c.-25-3922G>A - IntronicSNV - 2/24 1
9-5019201-T-G c.-25-2762T>G - IntronicSNV - 2/24 1
9-5020089-G-A c.-25-1874G>A - IntronicSNV - 2/24 1
9-5021140-T-A c.-25-823T>A - IntronicSNV - 2/24 1
9-5021191-A-T c.-25-772A>T - IntronicSNV - 2/24 1
9-5021514-A-G c.-25-449A>G - IntronicSNV - 2/24 4
9-5021738-G-A c.-25-225G>A - IntronicSNV - 2/24 1
9-5021738-G-C c.-25-225G>C - IntronicSNV - 2/24 1
9-5021991-G-A c.4G>A p.G2R Missense 3/25 - 1
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 - 2
9-5021993-A-G c.6A>G p.G2= Synonymous 3/25 - 2
9-5021993-A-T c.6A>T p.G2= Synonymous 3/25 - 2
9-5021996-G-A c.9G>A p.M3I Missense 3/25 - 1
9-5021997-G-A c.10G>A p.A4T Missense 3/25 - 2
9-5021998-C-A c.11C>A p.A4D Missense 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 - 7
9-5022005-T-A c.18T>A p.L6= Synonymous 3/25 - 1
9-5022005-T-C c.18T>C p.L6= Synonymous 3/25 - 1
9-5022005-T-G c.18T>G p.L6= Synonymous 3/25 - 1
9-5022006-A-C c.19A>C p.T7P Missense 3/25 - 1
9-5022007-C-A c.20C>A p.T7K Missense 3/25 - 1
9-5022007-C-T c.20C>T p.T7M Missense 3/25 - 2
9-5022008-G-A c.21G>A p.T7= Synonymous 3/25 - 2
9-5022012-A-G c.25A>G p.T9A Missense 3/25 - 1
9-5022013-C-T c.26C>T p.T9I Missense 3/25 - 1
9-5022015-G-A c.28G>A p.E10K Missense 3/25 - 5
9-5022016-A-C c.29A>C p.E10A Missense 3/25 - 1
9-5022017-A-C c.30A>C p.E10D Missense 3/25 - 1
9-5022018-A-G c.31A>G p.M11V Missense 3/25 - 1
9-5022020-G-T c.33G>T p.M11I Missense 3/25 - 1
9-5022021-G-A c.34G>A p.E12K Missense 3/25 - 4
9-5022021-G-C c.34G>C p.E12Q Missense 3/25 - 2
9-5022021-G-T c.34G>T p.E12* Nonsense 3/25 - 3
9-5022022-A-C c.35A>C p.E12A Missense 3/25 - 2
9-5022023-G-T c.36G>T p.E12D Missense 3/25 - 2
9-5022024-G-A c.37G>A p.G13R Missense 3/25 - 1
9-5022024-G-C c.37G>C p.G13R Missense 3/25 - 1
9-5022024-GGA-AAC c.37_39delinsAAC p.G13N Missense 3/25 - 1
9-5022024-GGA-AGC c.37_39delinsAGC p.G13S Missense 3/25 - 1
9-5022024-GGA-TGT c.37_39delinsTGT p.G13C Missense 3/25 - 2
9-5022024-G-T c.37G>T p.G13* Nonsense 3/25 - 1
9-5022025-G-A c.38G>A p.G13E Missense 3/25 - 4
9-5022025-GA-AC c.38_39delinsAC p.G13D Missense 3/25 - 14
9-5022025-G-T c.38G>T p.G13V Missense 3/25 - 1
9-5022028-C-T c.41C>T p.T14I Missense 3/25 - 2
9-5022029-A-C c.42A>C p.T14= Synonymous 3/25 - 1
9-5022029-A-G c.42A>G p.T14= Synonymous 3/25 - 1
9-5022029-A-T c.42A>T p.T14= Synonymous 3/25 - 1
9-5022030-T-C c.43T>C p.S15P Missense 3/25 - 1
9-5022030-TC-AA c.43_44delinsAA p.S15N 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 - 4
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 - 7
9-5022034-C-A c.47C>A p.T16N Missense 3/25 - 2
9-5022034-C-T c.47C>T p.T16I Missense 3/25 - 1
9-5022035-C-A c.48C>A p.T16= Synonymous 3/25 - 1
9-5022035-C-G c.48C>G p.T16= Synonymous 3/25 - 1
9-5022035-C-T c.48C>T p.T16= Synonymous 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-TC-GA c.49_50inv p.S17D 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 - 7
9-5022037-C-G c.50C>G p.S17C Missense 3/25 - 5
9-5022037-C-T c.50C>T p.S17F Missense 3/25 - 2
9-5022038-T-A c.51T>A p.S17= Synonymous 3/25 - 1
9-5022038-T-C c.51T>C p.S17= Synonymous 3/25 - 1
9-5022038-T-G c.51T>G p.S17= Synonymous 3/25 - 1
9-5022039-TC-AT c.52_53delinsAT p.S18I Missense 3/25 - 1
9-5022039-TC-CT c.52_53delinsCT p.S18L Missense 3/25 - 1
9-5022039-TC-GA c.52_53inv p.S18D Missense 3/25 - 1
9-5022039-T-G c.52T>G p.S18A Missense 3/25 - 5
9-5022040-C-G c.53C>G p.S18C Missense 3/25 - 2
9-5022040-C-T c.53C>T p.S18F Missense 3/25 - 3
9-5022041-T-C c.54T>C p.S18= Synonymous 3/25 - 1
9-5022042-A-C c.55A>C p.I19L Missense 3/25 - 1
9-5022042-A-G c.55A>G p.I19V Missense 3/25 - 1
9-5022042-A-T c.55A>T p.I19L Missense 3/25 - 1
9-5022044-A-G c.57A>G p.I19M Missense 3/25 - 1
9-5022048-CAG-GAC c.61_63delinsGAC p.Q21D Missense 3/25 - 1
9-5022048-C-G c.61C>G p.Q21E Missense 3/25 - 3
9-5022050-G-A c.63G>A p.Q21= Synonymous 3/25 - 1
9-5022050-G-C c.63G>C p.Q21H Missense 3/25 - 3
9-5022050-G-T c.63G>T p.Q21H Missense 3/25 - 2
9-5022052-A-C c.65A>C p.N22T Missense 3/25 - 1
9-5022052-A-G c.65A>G p.N22S Missense 3/25 - 1
9-5022054-G-A c.67G>A p.G23S Missense 3/25 - 1
9-5022055-G-T c.68G>T p.G23V Missense 3/25 - 3
9-5022055-GT-AG c.68_69delinsAG p.G23E Missense 3/25 - 1
9-5022056-T-A c.69T>A p.G23= Synonymous 3/25 - 1
9-5022057-GAT-ATG c.70_72delinsATG p.D24M Missense 3/25 - 1
9-5022057-GAT-TAA c.70_72delinsTAA p.D24* Nonsense 3/25 - 1
9-5022057-G-C c.70G>C p.D24H Missense 3/25 - 1
9-5022058-A-G c.71A>G p.D24G Missense 3/25 - 1
9-5022059-T-C c.72T>C p.D24= Synonymous 3/25 - 1
9-5022060-A-C c.73A>C p.I25L 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
9-5022062-T-C c.75T>C p.I25= Synonymous 3/25 - 1
9-5022063-T-A c.76T>A p.S26T Missense 3/25 - 1
9-5022063-TC-CT c.76_77delinsCT p.S26L Missense 3/25 - 1
9-5022064-C-G c.77C>G p.S26C Missense 3/25 - 2
9-5022064-C-T c.77C>T p.S26F Missense 3/25 - 2
9-5022066-G-T c.79G>T p.G27* Nonsense 3/25 - 1
9-5022067-G-A c.80G>A p.G27E Missense 3/25 - 1
9-5022069-A-C c.82A>C p.N28H Missense 3/25 - 1
9-5022071-T-C c.84T>C p.N28= Synonymous 3/25 - 1
9-5022072-G-A c.85G>A p.A29T Missense 3/25 - 1
9-5022072-G-C c.85G>C p.A29P Missense 3/25 - 2
9-5022072-GC-AA c.85_86delinsAA p.A29N Missense 3/25 - 2
9-5022072-GC-AT c.85_86delinsAT p.A29I Missense 3/25 - 2
9-5022072-GC-CA c.85_86delinsCA p.A29H Missense 3/25 - 2
9-5022072-GCC-ATG c.85_87delinsATG p.A29M Missense 3/25 - 3
9-5022072-GCC-CAA c.85_87delinsCAA p.A29Q Missense 3/25 - 2
9-5022072-GC-CG c.85_86delinsCG p.A29R Missense 3/25 - 2
9-5022072-GC-CT c.85_86delinsCT p.A29L Missense 3/25 - 3
9-5022072-GCC-TAA c.85_87delinsTAA p.A29* Nonsense 3/25 - 2
9-5022072-GCC-TGG c.85_87delinsTGG p.A29W Missense 3/25 - 2
9-5022072-GC-TG c.85_86delinsTG p.A29C Missense 3/25 - 2
9-5022072-G-T c.85G>T p.A29S Missense 3/25 - 2
9-5022073-C-A c.86C>A p.A29D Missense 3/25 - 3
9-5022073-CC-AG c.86_87delinsAG p.A29E Missense 3/25 - 5
9-5022073-C-G c.86C>G p.A29G Missense 3/25 - 4
9-5022073-C-T c.86C>T p.A29V Missense 3/25 - 4
9-5022074-C-A c.87C>A p.A29= Synonymous 3/25 - 2
9-5022074-C-G c.87C>G p.A29= Synonymous 3/25 - 2
9-5022074-C-T c.87C>T p.A29= Synonymous 3/25 - 2
9-5022076-A-G c.89A>G p.N30S Missense 3/25 - 1
9-5022077-T-C c.90T>C p.N30= Synonymous 3/25 - 1
9-5022079-C-G c.92C>G p.S31C Missense 3/25 - 1
9-5022079-C-T c.92C>T p.S31F Missense 3/25 - 1
9-5022080-T-C c.93T>C p.S31= Synonymous 3/25 - 2
9-5022081-A-G c.94A>G p.M32V Missense 3/25 - 1
9-5022081-A-T c.94A>T p.M32L Missense 3/25 - 1
9-5022083-G-A c.96G>A p.M32I Missense 3/25 - 1
9-5022083-G-C c.96G>C p.M32I Missense 3/25 - 1
9-5022083-G-T c.96G>T p.M32I Missense 3/25 - 1
9-5022084-AA-GC c.97_98delinsGC p.K33A Missense 3/25 - 1
9-5022084-A-AT c.97_98insT p.K33Ifs*19 Frameshift 3/25 - 1
9-5022085-A-C c.98A>C p.K33T Missense 3/25 - 2
9-5022085-A-G c.98A>G p.K33R Missense 3/25 - 1
9-5022086-G-C c.99G>C p.K33N Missense 3/25 - 1
9-5022086-G-T c.99G>T p.K33N Missense 3/25 - 1
9-5022087-C-G c.100C>G p.Q34E Missense 3/25 - 1
9-5022087-C-T c.100C>T p.Q34* Nonsense 3/25 - 1
9-5022088-A-G c.101A>G p.Q34R Missense 3/25 - 2
9-5022090-A-G c.103A>G p.I35V Missense 3/25 - 1
9-5022091-TA-GC c.104_105delinsGC p.I35S Missense 3/25 - 1
9-5022091-T-C c.104T>C p.I35T Missense 3/25 - 1
9-5022091-T-G c.104T>G p.I35R Missense 3/25 - 1
9-5022092-A-C c.105A>C p.I35= Synonymous 3/25 - 1
9-5022092-A-G c.105A>G p.I35M Missense 3/25 - 1
9-5022092-A-T c.105A>T p.I35= Synonymous 3/25 - 2
9-5022093-G-A c.106G>A p.D36N Missense 3/25 - 3
9-5022093-GA-TG c.106_107delinsTG p.D36C Missense 3/25 - 1
9-5022095-T-A c.108T>A p.D36E Missense 3/25 - 1
9-5022095-T-G c.108T>G p.D36E Missense 3/25 - 1
9-5022098-A-C c.111A>C p.P37= Synonymous 3/25 - 1
9-5022099-G-T c.112G>T p.V38F Missense 3/25 - 1
9-5022102-CT-GC c.115_116delinsGC p.L39A Missense 3/25 - 5
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 - 2
9-5022107-G-C c.120G>C p.Q40H Missense 3/25 - 1
9-5022108-G-A c.121G>A p.V41M Missense 3/25 - 2
9-5022109-T-C c.122T>C p.V41A Missense 3/25 - 1
9-5022111-T-C c.124T>C p.Y42H Missense 3/25 - 2
9-5022113-T-G c.126T>G p.Y42* Nonsense 3/25 - 1
9-5022114-CT-AG c.127_128inv p.L43S Missense 3/25 - 1
9-5022117-T-A c.130T>A p.Y44N Missense 3/25 - 1
9-5022118-A-G c.131A>G p.Y44C Missense 3/25 - 2
9-5022119-C-A c.132C>A p.Y44* Nonsense 3/25 - 9
9-5022119-C-G c.132C>G p.Y44* Nonsense 3/25 - 7
9-5022121-A-G c.134A>G p.H45R Missense 3/25 - 2
9-5022122-T-A c.135T>A p.H45Q Missense 3/25 - 1
9-5022122-T-G c.135T>G p.H45Q Missense 3/25 - 1
9-5022124-C-A c.137C>A p.S46Y Missense 3/25 - 2
9-5022124-C-T c.137C>T p.S46F Missense 3/25 - 2
9-5022125-C-A c.138C>A p.S46= Synonymous 3/25 - 1
9-5022125-C-G c.138C>G p.S46= Synonymous 3/25 - 1
9-5022125-C-T c.138C>T p.S46= Synonymous 3/25 - 1
9-5022126-C-A c.139C>A p.L47I Missense 3/25 - 1
9-5022126-C-G c.139C>G p.L47V Missense 3/25 - 1
9-5022126-C-T c.139C>T p.L47F Missense 3/25 - 5
9-5022126-C-TTTT c.139delinsTTTT p.L47delinsFF MultiAAMissense 3/25 - 1
9-5022127-T-C c.140T>C p.L47P Missense 3/25 - 1
9-5022129-G-A c.142G>A p.G48R Missense 3/25 - 1
9-5022129-G-C c.142G>C p.G48R Missense 3/25 - 2
9-5022130-G-A c.143G>A p.G48E Missense 3/25 - 8
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
9-5022133-A-G c.146A>G p.K49R Missense 3/25 - 1
9-5022134-A-C c.147A>C p.K49N Missense 3/25 - 1
9-5022134-A-T c.147A>T p.K49N Missense 3/25 - 1
9-5022135-T-C c.148T>C p.S50P Missense 3/25 - 1
9-5022138-G-A c.151G>A p.E51K Missense 3/25 - 4
9-5022138-G-T c.151G>T p.E51* Nonsense 3/25 - 1
9-5022139-A-T c.152A>T p.E51V Missense 3/25 - 1
9-5022140-G-A c.153G>A p.E51= Synonymous 3/25 - 1
9-5022141-G-A c.154G>A p.A52T Missense 3/25 - 1
9-5022141-GCA-AAC c.154_156delinsAAC p.A52N Missense 3/25 - 1
9-5022141-GC-CA c.154_155delinsCA p.A52Q Missense 3/25 - 1
9-5022142-CA-AC c.155_156delinsAC p.A52D Missense 3/25 - 1
9-5022142-C-T c.155C>T p.A52V Missense 3/25 - 1
9-5022143-A-C c.156A>C p.A52= Synonymous 3/25 - 1
9-5022143-A-G c.156A>G p.A52= Synonymous 3/25 - 1
9-5022143-A-T c.156A>T p.A52= Synonymous 3/25 - 2
9-5022144-G-A c.157G>A p.D53N Missense 3/25 - 2
9-5022144-GAT-ACAAAC c.157_159delinsACAAAC p.D53delinsTN MultiAAMissense 3/25 - 1
9-5022144-G-T c.157G>T p.D53Y Missense 3/25 - 1
9-5022145-A-C c.158A>C p.D53A Missense 3/25 - 4
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
9-5022148-A-G c.161A>G p.Y54C Missense 3/25 - 1
9-5022149-T-G c.162T>G p.Y54* Nonsense 3/25 - 1
9-5022150-C-G c.163C>G p.L55V Missense 3/25 - 1
9-5022150-CTG-TTT c.163_165delinsTTT p.L55F Missense 3/25 - 2
9-5022151-T-C c.164T>C p.L55P Missense 3/25 - 7
9-5022151-T-G c.164T>G p.L55R Missense 3/25 - 2
9-5022154-C-T c.167C>T p.T56I Missense 3/25 - 1
9-5022153-AC-A c.168del p.P58Hfs*30 Frameshift 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
9-5022157-T-G c.170T>G p.F57C Missense 3/25 - 1
9-5022157-T-TGCTGCA c.170_171insGCTGCA p.F57delinsLLH MultiAAMissense 3/25 - 1
9-5022159-CCA-TGT c.172_174delinsTGT p.P58C Missense 3/25 - 2
9-5022159-C-G c.172C>G p.P58A Missense 3/25 - 2
9-5022159-C-T c.172C>T p.P58S Missense 3/25 - 1
9-5022160-C-A c.173C>A p.P58Q Missense 3/25 - 1
9-5022160-C-T c.173C>T p.P58L Missense 3/25 - 4
9-5022161-A-C c.174A>C p.P58= Synonymous 3/25 - 1
9-5022161-A-G c.174A>G p.P58= Synonymous 3/25 - 1
9-5022161-A-T c.174A>T p.P58= Synonymous 3/25 - 1
9-5022162-ATCT-A c.175_177del p.S59del InFrameDeletion 3/25 - 1
9-5022162-T-C c.175T>C p.S59P Missense 3/25 - 1
9-5022162-T-G c.175T>G p.S59A Missense 3/25 - 2
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 - 2
9-5022163-C-T c.176C>T p.S59F Missense 3/25 - 1
9-5022165-G-A c.178G>A p.G60R Missense 3/25 - 1
9-5022165-G-C c.178G>C p.G60R Missense 3/25 - 2
9-5022165-GGG-TTT c.178_180delinsTTT p.G60F Missense 3/25 - 1
9-5022166-G-A c.179G>A p.G60E Missense 3/25 - 1
9-5022166-G-C c.179G>C p.G60A Missense 3/25 - 1
9-5022166-GG-AC c.179_180delinsAC p.G60D Missense 3/25 - 1
9-5022166-G-T c.179G>T p.G60V Missense 3/25 - 4
9-5022168-G-A c.181G>A p.E61K Missense 3/25 - 1
9-5022168-G-T c.181G>T p.E61* Nonsense 3/25 - 2
9-5022169-A-T c.182A>T p.E61V Missense 3/25 - 2
9-5022171-T-C c.184T>C p.Y62H Missense 3/25 - 1
9-5022172-A-G c.185A>G p.Y62C Missense 3/25 - 2
9-5022173-T-A c.186T>A p.Y62* Nonsense 3/25 - 1
9-5022173-T-G c.186T>G p.Y62* Nonsense 3/25 - 1
9-5022174-G-A c.187G>A p.V63I Missense 3/25 - 1
9-5022174-G-C c.187G>C p.V63L Missense 3/25 - 1
9-5022174-G-T c.187G>T p.V63F Missense 3/25 - 1
9-5022174-TG-T c.187del p.V63Lfs*25 Frameshift 3/25 - 1
9-5022175-T-C c.188T>C p.V63A Missense 3/25 - 1
9-5022177-G-A c.190G>A p.A64T Missense 3/25 - 2
9-5022177-G-ATCA c.190delinsATCA p.A64delinsIT MultiAAMissense 3/25 - 1
9-5022177-GC-TA c.190_191delinsTA p.A64* Nonsense 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 - 2
9-5022180-G-A c.193G>A p.E65K Missense 3/25 - 2
9-5022180-G-C c.193G>C p.E65Q Missense 3/25 - 2
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 - 3
9-5022183-G-C c.196G>C p.E66Q Missense 3/25 - 2
9-5022183-G-T c.196G>T p.E66* Nonsense 3/25 - 2
9-5022184-A-C c.197A>C p.E66A Missense 3/25 - 1
9-5022184-A-G c.197A>G p.E66G Missense 3/25 - 2
9-5022185-A-C c.198A>C p.E66D Missense 3/25 - 2
9-5022185-A-T c.198A>T p.E66D Missense 3/25 - 2
9-5022186-A-G c.199A>G p.I67V Missense 3/25 - 1
9-5022186-A-T c.199A>T p.I67F Missense 3/25 - 1
9-5022187-T-A c.200T>A p.I67N Missense 3/25 - 1
9-5022187-T-TCGGAAC c.201_202insGGAACC p.I67_C68insGT InFrameInsertion 3/25 - 1
9-5022188-C-A c.201C>A p.I67= Synonymous 3/25 - 1
9-5022188-C-G c.201C>G p.I67M Missense 3/25 - 3
9-5022188-C-T c.201C>T p.I67= Synonymous 3/25 - 1
9-5022189-T-C c.202T>C p.C68R Missense 3/25 - 1
9-5022192-A-C c.205A>C p.I69L Missense 3/25 - 1
9-5022192-A-T c.205A>T p.I69F Missense 3/25 - 1
9-5022193-T-C c.206T>C p.I69T Missense 3/25 - 2
9-5022194-T-A c.207T>A p.I69= Synonymous 3/25 - 1
9-5022194-T-C c.207T>C p.I69= Synonymous 3/25 - 1
9-5022195-G-A c.208G>A p.A70T Missense 3/25 - 1
9-5022195-GC-TG c.208_209delinsTG p.A70C Missense 3/25 - 1
9-5022196-C-G c.209C>G p.A70G Missense 3/25 - 1
9-5022196-C-T c.209C>T p.A70V Missense 3/25 - 3
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
9-5022198-G-T c.211G>T p.A71S Missense 3/25 - 2
9-5022199-C-T c.212C>T p.A71V Missense 3/25 - 1
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
9-5022201-T-C c.214T>C p.S72P Missense 3/25 - 1
9-5022202-C-T c.215C>T p.S72F Missense 3/25 - 1
9-5022204-A-G c.217A>G p.K73E Missense 3/25 - 1
9-5022206-A-C c.219A>C p.K73N Missense 3/25 - 1
9-5022206-A-T c.219A>T p.K73N Missense 3/25 - 1
9-5022207-G-A c.220G>A p.A74T Missense 3/25 - 1
9-5022207-GC-TT c.220_221delinsTT p.A74F Missense 3/25 - 1
9-5022208-C-G c.221C>G p.A74G Missense 3/25 - 1
9-5022208-C-T c.221C>T p.A74V Missense 3/25 - 3
9-5022209-T-A c.222T>A p.A74= Synonymous 3/25 - 1
9-5022209-T-C c.222T>C p.A74= Synonymous 3/25 - 1
9-5022209-T-G c.222T>G p.A74= Synonymous 3/25 - 1
9-5022208-C-CT c.223dup p.C75Lfs*9 Frameshift 3/25 - 1
9-5022211-G-T c.224G>T p.C75F Missense 3/25 - 4
9-5022212-T-C c.225T>C p.C75= Synonymous 3/25 - 1
9-5022213-G-A c.226G>A p.G76S Missense 3/25 - 2
9-5022213-G-C c.226G>C p.G76R Missense 3/25 - 1
9-5022213-G-T c.226G>T p.G76C Missense 3/25 - 1
9-5022214-G-A c.226+1G>A - IntronicSNV - 3/24 1
9-5022214-G-T c.226+1G>T - IntronicSNV - 3/24 1
9-5022216-A-T c.226+3A>T - IntronicSNV - 3/24 1
9-5022232-C-A c.226+19C>A - IntronicSNV - 3/24 1
9-5022284-T-A c.226+71T>A - IntronicSNV - 3/24 1
9-5022807-C-T c.226+594C>T - IntronicSNV - 3/24 4
9-5023441-G-A c.226+1228G>A - IntronicSNV - 3/24 2
9-5023604-A-C c.226+1391A>C - IntronicSNV - 3/24 2
9-5023794-G-T c.226+1581G>T - IntronicSNV - 3/24 2
9-5024427-T-A c.226+2214T>A - IntronicSNV - 3/24 2
9-5025746-T-G c.226+3533T>G - IntronicSNV - 3/24 1
9-5026293-A-G c.227-3490A>G - IntronicSNV - 3/24 3
9-5028813-C-T c.227-970C>T - IntronicSNV - 3/24 2
9-5028921-C-G c.227-862C>G - IntronicSNV - 3/24 1
9-5029077-T-G c.227-706T>G - IntronicSNV - 3/24 1
9-5029785-A-G c.229A>G p.I77V Missense 4/25 - 1
9-5029787-C-A c.231C>A p.I77= Synonymous 4/25 - 4
9-5029787-C-T c.231C>T p.I77= Synonymous 4/25 - 6
9-5029790-CACCTGT-C c.234_239del p.P79_V80del InFrameDeletion 4/25 - 1
9-5029791-C-T c.235C>T p.P79S Missense 4/25 - 1
9-5029792-C-T c.236C>T p.P79L Missense 4/25 - 1
9-5029794-G-A c.238G>A p.V80M Missense 4/25 - 3
9-5029794-G-C c.238G>C p.V80L Missense 4/25 - 1
9-5029794-G-T c.238G>T p.V80L 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 - 3
9-5029795-T-C c.239T>C p.V80A Missense 4/25 - 2
9-5029797-TA-GC c.241_242delinsGC p.Y81A Missense 4/25 - 1
9-5029797-T-C c.241T>C p.Y81H Missense 4/25 - 1
9-5029798-A-T c.242A>T p.Y81F Missense 4/25 - 1
9-5029799-T-G c.243T>G p.Y81* Nonsense 4/25 - 1
9-5029800-C-T c.244C>T p.H82Y Missense 4/25 - 2
9-5029801-A-G c.245A>G p.H82R Missense 4/25 - 2
9-5029801-A-T c.245A>T p.H82L Missense 4/25 - 1
9-5029803-A-T c.247A>T p.N83Y Missense 4/25 - 1
9-5029800-CATA-C c.248_250del p.N83del InFrameDeletion 4/25 - 1
9-5029804-A-T c.248A>T p.N83I Missense 4/25 - 1
9-5029803-AAT-A c.250_251del p.M84Vfs*6 Frameshift 4/25 - 1
9-5029808-G-A c.252G>A p.M84I Missense 4/25 - 1
9-5029809-T-A c.253T>A p.F85I Missense 4/25 - 1
9-5029809-T-C c.253T>C p.F85L Missense 4/25 - 1
9-5029811-T-A c.255T>A p.F85L Missense 4/25 - 1
9-5029811-T-G c.255T>G p.F85L Missense 4/25 - 1
9-5029810-T-C c.254T>C p.F85S Missense 4/25 - 1
9-5029813-C-T c.257C>T p.A86V Missense 4/25 - 2
9-5029814-T-C c.258T>C p.A86= Synonymous 4/25 - 1
9-5029815-TT-CC c.259_260delinsCC p.L87P Missense 4/25 - 1
9-5029819-T-C c.263T>C p.M88T Missense 4/25 - 1
9-5029820-G-T c.264G>T p.M88I Missense 4/25 - 1
9-5029821-AG-GC c.265_266delinsGC p.S89A Missense 4/25 - 1
9-5029821-A-T c.265A>T p.S89C Missense 4/25 - 1
9-5029822-G-C c.266G>C p.S89T Missense 4/25 - 2
9-5029824-G-A c.268G>A p.E90K Missense 4/25 - 2
9-5029824-GAA-TTT c.268_270delinsTTT p.E90F Missense 4/25 - 1
9-5029824-G-C c.268G>C p.E90Q Missense 4/25 - 1
9-5029824-G-T c.268G>T p.E90* Nonsense 4/25 - 4
9-5029825-A-C c.269A>C p.E90A Missense 4/25 - 1
9-5029828-C-G c.272C>G p.T91R Missense 4/25 - 1
9-5029828-C-T c.272C>T p.T91I Missense 4/25 - 1
9-5029829-A-T c.273A>T p.T91= Synonymous 4/25 - 1
9-5029830-G-A c.274G>A p.E92K Missense 4/25 - 2
9-5029830-GAA-TTT c.274_276delinsTTT p.E92F Missense 4/25 - 1
9-5029831-A-G c.275A>G p.E92G Missense 4/25 - 1
9-5029831-A-T c.275A>T p.E92V Missense 4/25 - 1
9-5029833-AGG-CAT c.277_279delinsCAT p.R93H Missense 4/25 - 1
9-5029833-AG-TA c.277_278delinsTA p.R93* Nonsense 4/25 - 2
9-5029834-G-A c.278G>A p.R93K Missense 4/25 - 1
9-5029835-G-C c.279G>C p.R93S Missense 4/25 - 1
9-5029835-G-T c.279G>T p.R93S Missense 4/25 - 1
9-5029836-A-G c.280A>G p.I94V Missense 4/25 - 1
9-5029838-C-G c.282C>G p.I94M Missense 4/25 - 1
9-5029842-T-C c.286T>C p.Y96H Missense 4/25 - 1
9-5029845-C-A c.289C>A p.P97T Missense 4/25 - 2
9-5029845-C-G c.289C>G p.P97A Missense 4/25 - 2
9-5029846-CA-AT c.290_291delinsAT p.P97H Missense 4/25 - 1
9-5029847-A-G c.291A>G p.P97= Synonymous 4/25 - 1
9-5029848-C-A c.292C>A p.P98T Missense 4/25 - 1
9-5029848-C-G c.292C>G p.P98A Missense 4/25 - 1
9-5029848-C-T c.292C>T p.P98S Missense 4/25 - 1
9-5029851-A-T c.295A>T p.N99Y 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 - 2
9-5029854-CAT-TAA c.298_300delinsTAA p.H100* Nonsense 4/25 - 1
9-5029854-C-CTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTCTCGGTTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTCAAAGCCACTGCCAGAA c.298_299insTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTCTCGGTTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTCAAAGCCACTGCCAGAA p.H100delinsLFFFKQKTAYEILGCDWSSDVCSSDLKATARN MultiAAMissense 4/25 - 1
9-5029854-C-T c.298C>T p.H100Y Missense 4/25 - 1
9-5029857-GT-TG c.301_302delinsTG p.V101C Missense 4/25 - 1
9-5029858-T-C c.302T>C p.V101A Missense 4/25 - 1
9-5029859-C-A c.303C>A p.V101= Synonymous 4/25 - 4
9-5029859-C-G c.303C>G p.V101= Synonymous 4/25 - 1
9-5029859-C-T c.303C>T p.V101= Synonymous 4/25 - 2
9-5029860-T-C c.304T>C p.F102L Missense 4/25 - 1
9-5029859-C-CT c.305dup p.H103Pfs*4 Frameshift 4/25 - 1
9-5029861-T-G c.305T>G p.F102C Missense 4/25 - 1
9-5029862-C-T c.306C>T p.F102= Synonymous 4/25 - 1
9-5029862-TCC-T c.306_307del p.F102Lfs*4 Frameshift 4/25 - 1
9-5029863-C-T c.307C>T p.H103Y Missense 4/25 - 4
9-5029864-A-G c.308A>G p.H103R Missense 4/25 - 2
9-5029867-T-A c.311T>A p.I104K Missense 4/25 - 1
9-5029867-T-C c.311T>C p.I104T 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
9-5029871-T-C c.315T>C p.D105= Synonymous 4/25 - 1
9-5029872-G-A c.316G>A p.E106K Missense 4/25 - 1
9-5029873-A-G c.317A>G p.E106G Missense 4/25 - 1
9-5029873-A-T c.317A>T p.E106V Missense 4/25 - 4
9-5029878-A-G c.322A>G p.T108A Missense 4/25 - 7
9-5029878-A-T c.322A>T p.T108S Missense 4/25 - 1
9-5029881-A-G c.325A>G p.R109G Missense 4/25 - 2
9-5029884-C-A c.328C>A p.H110N Missense 4/25 - 1
9-5029884-C-T c.328C>T p.H110Y Missense 4/25 - 3
9-5029885-A-C c.329A>C p.H110P Missense 4/25 - 1
9-5029885-A-G c.329A>G p.H110R Missense 4/25 - 1
9-5029886-T-A c.330T>A p.H110Q 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
9-5029888-A-G c.332A>G p.N111S Missense 4/25 - 2
9-5029888-A-T c.332A>T p.N111I Missense 4/25 - 1
9-5029890-G-C c.334G>C p.V112L Missense 4/25 - 1
9-5029890-G-T c.334G>T p.V112L Missense 4/25 - 1
9-5029891-T-C c.335T>C p.V112A Missense 4/25 - 1
9-5029893-C-G c.337C>G p.L113V Missense 4/25 - 10
9-5029893-C-T c.337C>T p.L113F Missense 4/25 - 1
9-5029895-C-T c.339C>T p.L113= Synonymous 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 - 7
9-5029897-A-T c.341A>T p.Y114F Missense 4/25 - 1
9-5029898-C-A c.342C>A p.Y114* Nonsense 4/25 - 1
9-5029898-C-CT c.342_343insT p.R115* Nonsense 4/25 - 1
9-5029899-AGA-CAT c.343_345delinsCAT p.R115H Missense 4/25 - 1
9-5029899-AGA-TGG c.343_345delinsTGG p.R115W Missense 4/25 - 1
9-5029899-AG-CA c.343_344delinsCA p.R115Q Missense 4/25 - 1
9-5029900-G-A c.344G>A p.R115K Missense 4/25 - 1
9-5029900-G-T c.344G>T p.R115I Missense 4/25 - 15
9-5029905-A-G c.349A>G p.R117G Missense 4/25 - 2
9-5029905-AG-CT c.349_350inv p.R117L Missense 4/25 - 2
9-5029906-G-A c.350G>A p.R117K Missense 4/25 - 1
9-5029908-T-G c.350+2T>G - IntronicSNV - 4/24 1
9-5029941-A-T c.350+35A>T - IntronicSNV - 4/24 1
9-5029959-AATT-A c.350+56_350+58del - IntronicDeletion - 4/24 1
9-5030080-T-C c.350+174T>C - IntronicSNV - 4/24 1
9-5033677-G-C c.350+3771G>C - IntronicSNV - 4/24 2
9-5033882-C-A c.350+3976C>A - IntronicSNV - 4/24 1
9-5034275-T-C c.350+4369T>C - IntronicSNV - 4/24 1
9-5034275-T-G c.350+4369T>G - IntronicSNV - 4/24 1
9-5034280-A-C c.350+4374A>C - IntronicSNV - 4/24 2
9-5034612-A-C c.350+4706A>C - IntronicSNV - 4/24 1
9-5035586-A-T c.350+5680A>T - IntronicSNV - 4/24 1
9-5036219-G-A c.350+6313G>A - IntronicSNV - 4/24 2
9-5037002-T-A c.350+7096T>A - IntronicSNV - 4/24 2
9-5037180-T-C c.351-7223T>C - IntronicSNV - 4/24 1
9-5037393-A-C c.351-7010A>C - IntronicSNV - 4/24 2
9-5037694-C-G c.351-6709C>G - IntronicSNV - 4/24 1
9-5037694-C-T c.351-6709C>T - IntronicSNV - 4/24 1
9-5038164-G-A c.351-6239G>A - IntronicSNV - 4/24 1
9-5038180-C-A c.351-6223C>A - IntronicSNV - 4/24 1
9-5038180-C-T c.351-6223C>T - IntronicSNV - 4/24 1
9-5039652-A-C c.351-4751A>C - IntronicSNV - 4/24 1
9-5039652-A-T c.351-4751A>T - IntronicSNV - 4/24 1
9-5040080-A-G c.351-4323A>G - IntronicSNV - 4/24 1
9-5040163-G-A c.351-4240G>A - IntronicSNV - 4/24 4
9-5040203-T-A c.351-4200T>A - IntronicSNV - 4/24 8
9-5040786-T-A c.351-3617T>A - IntronicSNV - 4/24 1
9-5041680-T-G c.351-2723T>G - IntronicSNV - 4/24 1
9-5041690-C-G c.351-2713C>G - IntronicSNV - 4/24 3
9-5041690-C-T c.351-2713C>T - IntronicSNV - 4/24 3
9-5041692-G-T c.351-2711G>T - IntronicSNV - 4/24 3
9-5041756-C-G c.351-2647C>G - IntronicSNV - 4/24 1
9-5042046-C-T c.351-2357C>T - IntronicSNV - 4/24 3
9-5042082-G-A c.351-2321G>A - IntronicSNV - 4/24 1
9-5042226-C-T c.351-2177C>T - IntronicSNV - 4/24 1
9-5042237-C-A c.351-2166C>A - IntronicSNV - 4/24 1
9-5042237-C-T c.351-2166C>T - IntronicSNV - 4/24 1
9-5042757-G-A c.351-1646G>A - IntronicSNV - 4/24 1
9-5042981-G-C c.351-1422G>C - IntronicSNV - 4/24 3
9-5042981-G-T c.351-1422G>T - IntronicSNV - 4/24 3
9-5043152-T-C c.351-1251T>C - IntronicSNV - 4/24 1
9-5043156-C-T c.351-1247C>T - IntronicSNV - 4/24 4
9-5043688-C-G c.351-715C>G - IntronicSNV - 4/24 1
9-5043767-A-T c.351-636A>T - IntronicSNV - 4/24 1
9-5044403-A-C c.351A>C p.R117S Missense 5/25 - 2
9-5044403-A-T c.351A>T p.R117S Missense 5/25 - 1
9-5044404-T-C c.352T>C p.F118L Missense 5/25 - 5
9-5044406-T-A c.354T>A p.F118L Missense 5/25 - 3
9-5044406-T-G c.354T>G p.F118L Missense 5/25 - 3
9-5044407-TAC-GAG c.355_357delinsGAG p.Y119E Missense 5/25 - 5
9-5044407-TA-GC c.355_356delinsGC p.Y119A Missense 5/25 - 1
9-5044407-T-C c.355T>C p.Y119H Missense 5/25 - 1
9-5044408-A-T c.356A>T p.Y119F Missense 5/25 - 2
9-5044411-T-G c.359T>G p.F120C Missense 5/25 - 1
9-5044413-C-G c.361C>G p.P121A Missense 5/25 - 2
9-5044413-C-T c.361C>T p.P121S Missense 5/25 - 2
9-5044414-C-G c.362C>G p.P121R Missense 5/25 - 1
9-5044414-C-T c.362C>T p.P121L Missense 5/25 - 3
9-5044416-C-A c.364C>A p.R122S Missense 5/25 - 1
9-5044416-C-G c.364C>G p.R122G Missense 5/25 - 1
9-5044416-CGT-TGG c.364_366delinsTGG p.R122W Missense 5/25 - 1
9-5044416-C-T c.364C>T p.R122C Missense 5/25 - 1
9-5044416-C-TTTT c.364delinsTTTT p.R122delinsFC MultiAAMissense 5/25 - 1
9-5044417-G-A c.365G>A p.R122H Missense 5/25 - 7
9-5044417-G-C c.365G>C p.R122P Missense 5/25 - 2
9-5044417-G-T c.365G>T p.R122L Missense 5/25 - 7
9-5044417-GT-AA c.365_366delinsAA p.R122Q Missense 5/25 - 1
9-5044418-T-C c.366T>C p.R122= Synonymous 5/25 - 1
9-5044419-TTG-T c.367_368del p.W123Vfs*18 Frameshift 5/25 - 1
9-5044420-G-A c.368G>A p.W123* Nonsense 5/25 - 1
9-5044420-G-T c.368G>T p.W123L Missense 5/25 - 1
9-5044422-T-A c.370T>A p.Y124N Missense 5/25 - 1
9-5044422-T-C c.370T>C p.Y124H Missense 5/25 - 1
9-5044422-T-G c.370T>G p.Y124D Missense 5/25 - 1
9-5044423-A-G c.371A>G p.Y124C Missense 5/25 - 2
9-5044423-A-T c.371A>T p.Y124F Missense 5/25 - 1
9-5044425-T-A c.373T>A p.C125S Missense 5/25 - 1
9-5044426-G-C c.374G>C p.C125S Missense 5/25 - 1
9-5044427-C-A c.375C>A p.C125* Nonsense 5/25 - 1
9-5044427-C-T c.375C>T p.C125= Synonymous 5/25 - 1
9-5044428-A-G c.376A>G p.S126G Missense 5/25 - 3
9-5044428-A-T c.376A>T p.S126C Missense 5/25 - 1
9-5044429-G-A c.377G>A p.S126N Missense 5/25 - 7
9-5044430-T-A c.378T>A p.S126R Missense 5/25 - 1
9-5044431-G-A c.379G>A p.G127S Missense 5/25 - 1
9-5044431-G-T c.379G>T p.G127C Missense 5/25 - 2
9-5044432-G-A c.380G>A p.G127D Missense 5/25 - 17
9-5044432-G-C c.380G>C p.G127A Missense 5/25 - 3
9-5044434-AG-CC c.382_383delinsCC p.S128P Missense 5/25 - 3
9-5044434-AG-GC c.382_383delinsGC p.S128A Missense 5/25 - 1
9-5044434-AG-TA c.382_383delinsTA p.S128Y Missense 5/25 - 1
9-5044434-A-T c.382A>T p.S128C Missense 5/25 - 2
9-5044434-A-C c.382A>C p.S128R Missense 5/25 - 2
9-5044436-C-A c.384C>A p.S128R Missense 5/25 - 2
9-5044436-C-G c.384C>G p.S128R Missense 5/25 - 2
9-5044438-A-G c.386A>G p.N129S Missense 5/25 - 1
9-5044439-C-A c.387C>A p.N129K Missense 5/25 - 1
9-5044439-C-G c.387C>G p.N129K Missense 5/25 - 1
9-5044440-A-G c.388A>G p.R130G Missense 5/25 - 4
9-5044440-AGA-CAT c.388_390delinsCAT p.R130H Missense 5/25 - 2
9-5044440-AG-CA c.388_389delinsCA p.R130Q Missense 5/25 - 5
9-5044440-A-T c.388A>T p.R130* Nonsense 5/25 - 2
9-5044441-G-A c.389G>A p.R130K Missense 5/25 - 9
9-5044441-G-C c.389G>C p.R130T Missense 5/25 - 1
9-5044443-G-C c.391G>C p.A131P Missense 5/25 - 2
9-5044444-C-A c.392C>A p.A131D Missense 5/25 - 1
9-5044444-C-T c.392C>T p.A131V Missense 5/25 - 1
9-5044445-C-A c.393C>A p.A131= Synonymous 5/25 - 1
9-5044445-C-G c.393C>G p.A131= Synonymous 5/25 - 1
9-5044445-C-T c.393C>T p.A131= Synonymous 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-G c.395A>G p.Y132C Missense 5/25 - 1
9-5044447-A-T c.395A>T p.Y132F Missense 5/25 - 3
9-5044448-T-A c.396T>A p.Y132* Nonsense 5/25 - 8
9-5044448-T-G c.396T>G p.Y132* Nonsense 5/25 - 10
9-5044449-C-A c.397C>A p.R133= Synonymous 5/25 - 1
9-5044449-CG-AA c.397_398delinsAA p.R133K Missense 5/25 - 2
9-5044449-C-T c.397C>T p.R133W Missense 5/25 - 9
9-5044451-G-A c.399G>A p.R133= Synonymous 5/25 - 2
9-5044451-G-C c.399G>C p.R133= Synonymous 5/25 - 1
9-5044451-G-T c.399G>T p.R133= Synonymous 5/25 - 1
9-5044450-G-A c.398G>A p.R133Q Missense 5/25 - 10
9-5044450-G-C c.398G>C p.R133P Missense 5/25 - 3
9-5044450-G-T c.398G>T p.R133L Missense 5/25 - 1
9-5044452-C-T c.400C>T p.H134Y Missense 5/25 - 1
9-5044453-A-G c.401A>G p.H134R Missense 5/25 - 4
9-5044455-GGA-TGT c.403_405delinsTGT p.G135C Missense 5/25 - 1
9-5044455-G-T c.403G>T p.G135* Nonsense 5/25 - 1
9-5044456-G-A c.404G>A p.G135E Missense 5/25 - 2
9-5044456-G-T c.404G>T p.G135V Missense 5/25 - 1
9-5044458-A-T c.406A>T p.I136L Missense 5/25 - 1
9-5044460-A-G c.408A>G p.I136M Missense 5/25 - 1
9-5044461-T-C c.409T>C p.S137P Missense 5/25 - 1
9-5044461-TC-CT c.409_410delinsCT p.S137L Missense 5/25 - 1
9-5044461-T-G c.409T>G p.S137A Missense 5/25 - 1
9-5044462-C-A c.410C>A p.S137Y Missense 5/25 - 1
9-5044462-C-CT c.411dup p.R138Sfs*4 Frameshift 5/25 - 1
9-5044464-C-A c.412C>A p.R138= Synonymous 5/25 - 1
9-5044464-C-G c.412C>G p.R138G Missense 5/25 - 1
9-5044464-CG-AC c.412_413delinsAC p.R138T Missense 5/25 - 1
9-5044464-CGA-TGT c.412_414delinsTGT p.R138C Missense 5/25 - 1
9-5044464-C-T c.412C>T p.R138* Nonsense 5/25 - 4
9-5044465-G-A c.413G>A p.R138Q Missense 5/25 - 12
9-5044465-G-C c.413G>C p.R138P Missense 5/25 - 5
9-5044468-G-T c.416G>T p.G139V Missense 5/25 - 3
9-5044473-G-A c.421G>A p.E141K Missense 5/25 - 1
9-5044476-G-A c.424G>A p.A142T Missense 5/25 - 1
9-5044479-C-T c.427C>T p.P143S Missense 5/25 - 6
9-5044480-C-A c.428C>A p.P143H Missense 5/25 - 1
9-5044480-C-G c.428C>G p.P143R Missense 5/25 - 1
9-5044482-C-G c.430C>G p.L144V Missense 5/25 - 2
9-5044482-C-T c.430C>T p.L144F Missense 5/25 - 2
9-5044483-T-C c.431T>C p.L144P Missense 5/25 - 1
9-5044483-TT-AA c.431_432inv p.L144Q Missense 5/25 - 1
9-5044485-C-T c.433C>T p.L145F Missense 5/25 - 3
9-5044486-TT-AA c.434_435inv p.L145Q Missense 5/25 - 1
9-5044488-G-A c.436G>A p.D146N Missense 5/25 - 3
9-5044488-G-C c.436G>C p.D146H Missense 5/25 - 5
9-5044490-T-A c.438T>A p.D146E Missense 5/25 - 1
9-5044491-G-A c.439G>A p.D147N Missense 5/25 - 1
9-5044493-CTT-C c.443_444del p.F148Cfs*12 Frameshift 5/25 - 1
9-5044497-G-A c.445G>A p.V149I Missense 5/25 - 1
9-5044497-G-C c.445G>C p.V149L Missense 5/25 - 2
9-5044497-G-T c.445G>T p.V149F Missense 5/25 - 1
9-5044497-GTC-ATG c.445_447delinsATG p.V149M Missense 5/25 - 2
9-5044498-T-C c.446T>C p.V149A Missense 5/25 - 2
9-5044502-G-A c.450G>A p.M150I Missense 5/25 - 2
9-5044502-G-C c.450G>C p.M150I Missense 5/25 - 1
9-5044502-G-T c.450G>T p.M150I Missense 5/25 - 1
9-5044503-TC-CT c.451_452delinsCT p.S151L Missense 5/25 - 1
9-5044503-T-G c.451T>G p.S151A Missense 5/25 - 1
9-5044504-C-T c.452C>T p.S151F Missense 5/25 - 1
9-5044504-CT-GG c.452_453delinsGG p.S151W Missense 5/25 - 1
9-5044507-A-C c.455A>C p.Y152S Missense 5/25 - 2
9-5044507-TA-T c.455del p.Y152Sfs*15 Frameshift 5/25 - 1
9-5044512-T-C c.460T>C p.F154L Missense 5/25 - 1
9-5044513-T-G c.461T>G p.F154C Missense 5/25 - 1
9-5044516-C-T c.464C>T p.A155V Missense 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
9-5044540-C-T c.468+20C>T - IntronicSNV - 5/24 1
9-5045328-C-G c.468+808C>G - IntronicSNV - 5/24 1
9-5045328-C-T c.468+808C>T - IntronicSNV - 5/24 1
9-5045658-G-A c.468+1138G>A - IntronicSNV - 5/24 2
9-5045695-C-T c.468+1175C>T - IntronicSNV - 5/24 1
9-5045916-C-A c.468+1396C>A - IntronicSNV - 5/24 2
9-5045916-C-T c.468+1396C>T - IntronicSNV - 5/24 2
9-5046548-A-C c.468+2028A>C - IntronicSNV - 5/24 2
9-5046881-T-A c.468+2361T>A - IntronicSNV - 5/24 2
9-5046881-T-C c.468+2361T>C - IntronicSNV - 5/24 2
9-5046935-T-C c.468+2415T>C - IntronicSNV - 5/24 1
9-5048213-C-T c.469-2473C>T - IntronicSNV - 5/24 1
9-5048814-G-A c.469-1872G>A - IntronicSNV - 5/24 2
9-5049065-G-T c.469-1621G>T - IntronicSNV - 5/24 4
9-5049092-G-T c.469-1594G>T - IntronicSNV - 5/24 2
9-5050307-C-T c.469-379C>T - IntronicSNV - 5/24 1
9-5050369-G-C c.469-317G>C - IntronicSNV - 5/24 3
9-5050687-G-A c.470G>A p.W157* Nonsense 6/25 - 3
9-5050688-G-A c.471G>A p.W157* Nonsense 6/25 - 2
9-5050688-G-C c.471G>C p.W157C Missense 6/25 - 1
9-5050689-C-A c.472C>A p.R158= Synonymous 6/25 - 1
9-5050689-C-G c.472C>G p.R158G Missense 6/25 - 2
9-5050689-C-T c.472C>T p.R158W Missense 6/25 - 7
9-5050691-G-A c.474G>A p.R158= Synonymous 6/25 - 1
9-5050691-G-C c.474G>C p.R158= Synonymous 6/25 - 1
9-5050691-G-T c.474G>T p.R158= Synonymous 6/25 - 2
9-5050690-G-A c.473G>A p.R158Q Missense 6/25 - 5
9-5050690-GG-AT c.473_474delinsAT p.R158H Missense 6/25 - 3
9-5050690-G-T c.473G>T p.R158L Missense 6/25 - 2
9-5050692-C-T c.475C>T p.H159Y Missense 6/25 - 2
9-5050695-G-C c.478G>C p.D160H Missense 6/25 - 2
9-5050696-A-T c.479A>T p.D160V Missense 6/25 - 2
9-5050701-G-A c.484G>A p.V162M Missense 6/25 - 1
9-5050701-G-C c.484G>C p.V162L Missense 6/25 - 2
9-5050701-G-T c.484G>T p.V162L Missense 6/25 - 3
9-5050702-T-G c.485T>G p.V162G Missense 6/25 - 1
9-5050704-C-G c.487C>G p.H163D Missense 6/25 - 1
9-5050704-C-T c.487C>T p.H163Y Missense 6/25 - 1
9-5050705-A-G c.488A>G p.H163R Missense 6/25 - 1
9-5050705-A-T c.488A>T p.H163L Missense 6/25 - 1
9-5050706-C-A c.489C>A p.H163Q Missense 6/25 - 1
9-5050706-C-T c.489C>T p.H163= Synonymous 6/25 - 36
9-5050707-G-A c.490G>A p.G164R Missense 6/25 - 3
9-5050707-G-C c.490G>C p.G164R Missense 6/25 - 1
9-5050707-G-T c.490G>T p.G164* Nonsense 6/25 - 1
9-5050708-G-A c.491G>A p.G164E Missense 6/25 - 1
9-5050708-G-C c.491G>C p.G164A Missense 6/25 - 2
9-5050708-G-T c.491G>T p.G164V Missense 6/25 - 1
9-5050710-T-C c.493T>C p.W165R Missense 6/25 - 1
9-5050711-G-A c.494G>A p.W165* Nonsense 6/25 - 1
9-5050712-G-A c.495G>A p.W165* Nonsense 6/25 - 1
9-5050712-G-C c.495G>C p.W165C Missense 6/25 - 1
9-5050712-G-T c.495G>T p.W165C Missense 6/25 - 1
9-5050713-A-G c.496A>G p.I166V Missense 6/25 - 2
9-5050713-ATA-TTT c.496_498delinsTTT p.I166F Missense 6/25 - 1
9-5050714-T-C c.497T>C p.I166T Missense 6/25 - 5
9-5050715-A-C c.498A>C p.I166= Synonymous 6/25 - 1
9-5050715-A-G c.498A>G p.I166M Missense 6/25 - 1
9-5050715-A-T c.498A>T p.I166= Synonymous 6/25 - 1
9-5050716-AA-GC c.499_500delinsGC p.K167A Missense 6/25 - 1
9-5050716-A-C c.499A>C p.K167Q 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
9-5050714-TA-T c.501del p.V168Yfs*3 Frameshift 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
9-5050719-G-C c.502G>C p.V168L Missense 6/25 - 1
9-5050719-G-T c.502G>T p.V168L Missense 6/25 - 1
9-5050719-GTA-ATG c.502_504delinsATG p.V168M Missense 6/25 - 1
9-5050720-T-C c.503T>C p.V168A Missense 6/25 - 1
9-5050723-C-A c.506C>A p.P169H Missense 6/25 - 2
9-5050725-G-A c.508G>A p.V170M Missense 6/25 - 1
9-5050725-GTG-ATC c.508_510delinsATC p.V170I Missense 6/25 - 1
9-5050728-A-T c.511A>T p.T171S Missense 6/25 - 1
9-5050729-C-T c.512C>T p.T171I Missense 6/25 - 1
9-5050731-CA-GC c.514_515delinsGC p.H172A Missense 6/25 - 1
9-5050731-C-T c.514C>T p.H172Y Missense 6/25 - 1
9-5050732-A-G c.515A>G p.H172R Missense 6/25 - 1
9-5050732-A-T c.515A>T p.H172L Missense 6/25 - 1
9-5050734-G-A c.517G>A p.E173K Missense 6/25 - 2
9-5050735-A-G c.518A>G p.E173G Missense 6/25 - 2
9-5050737-A-G c.520A>G p.T174A Missense 6/25 - 2
9-5050738-CA-TG c.521_522inv p.T174M Missense 6/25 - 1
9-5050740-C-G c.523C>G p.Q175E Missense 6/25 - 1
9-5050740-C-T c.523C>T p.Q175* Nonsense 6/25 - 1
9-5050741-A-C c.524A>C p.Q175P Missense 6/25 - 1
9-5050742-G-A c.525G>A p.Q175= Synonymous 6/25 - 1
9-5050742-G-C c.525G>C p.Q175H Missense 6/25 - 2
9-5050743-G-A c.526G>A p.E176K Missense 6/25 - 1
9-5050743-G-C c.526G>C p.E176Q Missense 6/25 - 1
9-5050743-G-T c.526G>T p.E176* Nonsense 6/25 - 1
9-5050744-A-G c.527A>G p.E176G Missense 6/25 - 1
9-5050744-A-T c.527A>T p.E176V Missense 6/25 - 1
9-5050746-G-A c.529G>A p.E177K Missense 6/25 - 1
9-5050746-GAA-TGT c.529_531delinsTGT p.E177C Missense 6/25 - 1
9-5050746-G-C c.529G>C p.E177Q Missense 6/25 - 2
9-5050746-G-T c.529G>T p.E177* Nonsense 6/25 - 1
9-5050747-A-G c.530A>G p.E177G Missense 6/25 - 1
9-5050750-G-T c.533G>T p.C178F Missense 6/25 - 1
9-5050753-T-C c.536T>C p.L179P Missense 6/25 - 2
9-5050755-G-A c.538G>A p.G180R Missense 6/25 - 2
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 - 7
9-5050758-A-G c.541A>G p.M181V Missense 6/25 - 1
9-5050757-G-GATTC c.542_543insTCAT p.M181Ifs*23 Frameshift 6/25 - 1
9-5050759-T-G c.542T>G p.M181R Missense 6/25 - 1
9-5050760-G-C c.543G>C p.M181I Missense 6/25 - 1
9-5050761-G-A c.544G>A p.A182T Missense 6/25 - 1
9-5050762-C-T c.545C>T p.A182V Missense 6/25 - 1
9-5050764-G-A c.547G>A p.V183M Missense 6/25 - 1
9-5050764-GTG-ATC c.547_549delinsATC p.V183I Missense 6/25 - 2
9-5050765-T-C c.548T>C p.V183A Missense 6/25 - 1
9-5050765-TG-AC c.548_549delinsAC p.V183D Missense 6/25 - 1
9-5050767-GTT-G c.550_551del p.L184Rfs*18 Frameshift 6/25 - 1
9-5050767-TT-GC c.550_551delinsGC p.L184A Missense 6/25 - 1
9-5050769-A-C c.552A>C p.L184F Missense 6/25 - 1
9-5050769-A-T c.552A>T p.L184F Missense 6/25 - 1
9-5050770-G-A c.553G>A p.D185N Missense 6/25 - 1
9-5050770-G-C c.553G>C p.D185H Missense 6/25 - 2
9-5050770-G-T c.553G>T p.D185Y Missense 6/25 - 2
9-5050771-A-G c.554A>G p.D185G Missense 6/25 - 3
9-5050774-T-C c.557T>C p.M186T Missense 6/25 - 1
9-5050775-G-A c.558G>A p.M186I Missense 6/25 - 1
9-5050775-G-C c.558G>C p.M186I Missense 6/25 - 1
9-5050775-G-T c.558G>T p.M186I Missense 6/25 - 1
9-5050779-A-G c.562A>G p.R188G Missense 6/25 - 2
9-5050780-G-A c.563G>A p.R188K Missense 6/25 - 1
9-5050780-G-T c.563G>T p.R188I Missense 6/25 - 1
9-5050779-A-C c.562A>C p.R188= Synonymous 6/25 - 1
9-5050781-A-G c.564A>G p.R188= Synonymous 6/25 - 1
9-5050782-A-C c.565A>C p.I189L Missense 6/25 - 2
9-5050783-T-A c.566T>A p.I189K Missense 6/25 - 1
9-5050784-A-G c.567A>G p.I189M Missense 6/25 - 1
9-5050785-G-A c.568G>A p.A190T Missense 6/25 - 1
9-5050785-G-C c.568G>C p.A190P Missense 6/25 - 1
9-5050786-C-A c.569C>A p.A190D Missense 6/25 - 1
9-5050788-A-C c.571A>C p.K191Q Missense 6/25 - 3
9-5050789-A-G c.572A>G p.K191R Missense 6/25 - 1
9-5050790-A-G c.573A>G p.K191= Synonymous 6/25 - 1
9-5050791-G-T c.574G>T p.E192* Nonsense 6/25 - 4
9-5050793-A-C c.576A>C p.E192D Missense 6/25 - 1
9-5050793-A-T c.576A>T p.E192D Missense 6/25 - 1
9-5050794-A-C c.577A>C p.N193H Missense 6/25 - 1
9-5050795-A-C c.578A>C p.N193T Missense 6/25 - 1
9-5050796-C-A c.579C>A p.N193K Missense 6/25 - 1
9-5050797-G-A c.580G>A p.D194N Missense 6/25 - 3
9-5050797-G-T c.580G>T p.D194Y Missense 6/25 - 3
9-5050798-A-C c.581A>C p.D194A Missense 6/25 - 2
9-5050801-A-T c.584A>T p.Q195L Missense 6/25 - 1
9-5050802-A-G c.585A>G p.Q195= Synonymous 6/25 - 1
9-5050803-AC-TG c.586_587delinsTG p.T196C Missense 6/25 - 1
9-5050803-A-G c.586A>G p.T196A Missense 6/25 - 1
9-5050804-C-T c.587C>T p.T196I Missense 6/25 - 1
9-5050803-AC-A c.590del p.P197Hfs*28 Frameshift 6/25 - 1
9-5050807-C-T c.590C>T p.P197L Missense 6/25 - 1
9-5050809-C-T c.592C>T p.L198= Synonymous 6/25 - 1
9-5050811-G-A c.594G>A p.L198= Synonymous 6/25 - 2
9-5050811-G-C c.594G>C p.L198= Synonymous 6/25 - 1
9-5050811-G-T c.594G>T p.L198= Synonymous 6/25 - 1
9-5050812-G-A c.595G>A p.A199T Missense 6/25 - 1
9-5050813-C-G c.596C>G p.A199G Missense 6/25 - 1
9-5050813-C-T c.596C>T p.A199V Missense 6/25 - 1
9-5050814-C-T c.597C>T p.A199= Synonymous 6/25 - 2
9-5050815-A-T c.598A>T p.I200F Missense 6/25 - 1
9-5050816-T-C c.599T>C p.I200T Missense 6/25 - 1
9-5050817-C-A c.600C>A p.I200= Synonymous 6/25 - 1
9-5050817-C-T c.600C>T p.I200= Synonymous 6/25 - 1
9-5050819-A-G c.602A>G p.Y201C Missense 6/25 - 3
9-5050819-A-T c.602A>T p.Y201F Missense 6/25 - 1
9-5050824-T-A c.607T>A p.S203T Missense 6/25 - 2
9-5050825-C-T c.608C>T p.S203F Missense 6/25 - 1
9-5050826-CT-C c.609del p.I204Sfs*21 Frameshift 6/25 - 1
9-5050829-C-G c.612C>G p.I204M Missense 6/25 - 2
9-5050830-A-G c.613A>G p.S205G Missense 6/25 - 2
9-5050830-AG-CC c.613_614delinsCC p.S205P Missense 6/25 - 1
9-5050830-AG-CT c.613_614inv p.S205L Missense 6/25 - 1
9-5050830-AG-GC c.613_614delinsGC p.S205A Missense 6/25 - 1
9-5050831-G-A c.614G>A p.S205N Missense 6/25 - 1
9-5050846-C-T c.614+15C>T - IntronicSNV - 6/24 1
9-5050879-T-C c.614+48T>C - IntronicSNV - 6/24 1
9-5050910-C-T c.614+79C>T - IntronicSNV - 6/24 2
9-5053743-C-G c.615-820C>G - IntronicSNV - 6/24 3
9-5053743-C-T c.615-820C>T - IntronicSNV - 6/24 3
9-5050830-A-C c.613A>C p.S205R Missense 6/25 - 1
9-5054563-C-A c.615C>A p.S205R Missense 7/25 - 1
9-5054563-C-G c.615C>G p.S205R Missense 7/25 - 1
9-5054566-ACAAGACAT-A c.618_625del p.K207Lfs*44 Frameshift 7/25 - 1
9-5054567-A-C c.619A>C p.K207Q Missense 7/25 - 1
9-5054568-A-C c.620A>C p.K207T Missense 7/25 - 1
9-5054568-A-G c.620A>G p.K207R Missense 7/25 - 1
9-5054569-G-A c.621G>A p.K207= Synonymous 7/25 - 1
9-5054569-G-C c.621G>C p.K207N Missense 7/25 - 1
9-5054569-G-T c.621G>T p.K207N Missense 7/25 - 1
9-5054573-T-G c.625T>G p.F209V Missense 7/25 - 1
9-5054574-T-C c.626T>C p.F209S Missense 7/25 - 1
9-5054575-C-G c.627C>G p.F209L Missense 7/25 - 2
9-5054576-T-C c.628T>C p.L210= Synonymous 7/25 - 1
9-5054576-TT-CC c.628_629delinsCC p.L210P Missense 7/25 - 1
9-5054578-A-G c.630A>G p.L210= Synonymous 7/25 - 2
9-5054579-C-T c.631C>T p.P211S Missense 7/25 - 1
9-5054580-C-T c.632C>T p.P211L Missense 7/25 - 1
9-5054581-A-C c.633A>C p.P211= Synonymous 7/25 - 1
9-5054581-A-G c.633A>G p.P211= Synonymous 7/25 - 1
9-5054581-A-T c.633A>T p.P211= Synonymous 7/25 - 1
9-5054582-A-G c.634A>G p.K212E Missense 7/25 - 1
9-5054583-A-G c.635A>G p.K212R Missense 7/25 - 1
9-5054585-T-A c.637T>A p.C213S Missense 7/25 - 1
9-5054586-G-A c.638G>A p.C213Y Missense 7/25 - 2
9-5054587-T-C c.639T>C p.C213= Synonymous 7/25 - 1
9-5054588-A-G c.640A>G p.I214V Missense 7/25 - 1
9-5054589-T-C c.641T>C p.I214T Missense 7/25 - 1
9-5054591-CGA-TGG c.643_645delinsTGG p.R215W Missense 7/25 - 1
9-5054591-CGA-TGT c.643_645delinsTGT p.R215C Missense 7/25 - 2
9-5054591-C-T c.643C>T p.R215* Nonsense 7/25 - 8
9-5054592-G-A c.644G>A p.R215Q Missense 7/25 - 8
9-5054592-GA-AT c.644_645delinsAT p.R215H Missense 7/25 - 1
9-5054592-G-T c.644G>T p.R215L Missense 7/25 - 1
9-5054595-C-A c.647C>A p.A216E Missense 7/25 - 1
9-5054595-C-G c.647C>G p.A216G 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
9-5054598-A-G c.650A>G p.K217R Missense 7/25 - 1
9-5054599-G-A c.651G>A p.K217= Synonymous 7/25 - 1
9-5054599-G-C c.651G>C p.K217N Missense 7/25 - 2
9-5054599-G-T c.651G>T p.K217N Missense 7/25 - 2
9-5054603-CAA-TGT c.655_657delinsTGT p.Q219C 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-G c.659A>G p.D220G Missense 7/25 - 3
9-5054607-A-T c.659A>T p.D220V Missense 7/25 - 2
9-5054610-A-G c.662A>G p.Y221C Missense 7/25 - 1
9-5054610-A-T c.662A>T p.Y221F Missense 7/25 - 1
9-5054611-T-A c.663T>A p.Y221* Nonsense 7/25 - 1
9-5054611-T-G c.663T>G p.Y221* Nonsense 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
9-5054612-TCA-T c.664_665del p.H222Yfs*31 Frameshift 7/25 - 1
9-5054615-A-G c.667A>G p.I223V Missense 7/25 - 1
9-5054616-T-C c.668T>C p.I223T Missense 7/25 - 2
9-5054618-T-G c.670T>G p.L224V Missense 7/25 - 1
9-5054618-TT-GA c.670_671delinsGA p.L224E Missense 7/25 - 2
9-5054619-T-A c.671T>A p.L224* Nonsense 7/25 - 1
9-5054622-C-G c.674C>G p.T225R Missense 7/25 - 1
9-5054622-C-T c.674C>T p.T225I Missense 7/25 - 2
9-5054624-AGG-TGT c.676_678delinsTGT p.R226C Missense 7/25 - 1
9-5054624-A-T c.676A>T p.R226W Missense 7/25 - 1
9-5054625-G-C c.677G>C p.R226T Missense 7/25 - 1
9-5054625-G-T c.677G>T p.R226M 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
9-5054628-A-G c.680A>G p.K227R Missense 7/25 - 1
9-5054630-C-A c.682C>A p.R228= Synonymous 7/25 - 1
9-5054630-C-G c.682C>G p.R228G Missense 7/25 - 1
9-5054630-CGA-TGG c.682_684delinsTGG p.R228W Missense 7/25 - 1
9-5054630-CGA-TGT c.682_684delinsTGT p.R228C Missense 7/25 - 1
9-5054630-C-T c.682C>T p.R228* Nonsense 7/25 - 4
9-5054631-G-A c.683G>A p.R228Q Missense 7/25 - 7
9-5054631-G-C c.683G>C p.R228P Missense 7/25 - 3
9-5054631-G-T c.683G>T p.R228L Missense 7/25 - 1
9-5054634-T-C c.686T>C p.I229T Missense 7/25 - 1
9-5054639-T-C c.691T>C p.Y231H Missense 7/25 - 2
9-5054642-AGA-CAT c.694_696delinsCAT p.R232H Missense 7/25 - 1
9-5054642-AGA-TAT c.694_696delinsTAT p.R232Y Missense 7/25 - 1
9-5054642-AGA-TGT c.694_696delinsTGT p.R232C Missense 7/25 - 1
9-5054643-G-A c.695G>A p.R232K Missense 7/25 - 2
9-5054643-G-C c.695G>C p.R232T Missense 7/25 - 2
9-5054644-A-T c.696A>T p.R232S Missense 7/25 - 1
9-5054646-T-C c.698T>C p.F233S Missense 7/25 - 1
9-5054646-T-G c.698T>G p.F233C Missense 7/25 - 1
9-5054647-T-C c.699T>C p.F233= Synonymous 7/25 - 1
9-5054648-CGC-TGG c.700_702delinsTGG p.R234W Missense 7/25 - 1
9-5054648-C-T c.700C>T p.R234C Missense 7/25 - 5
9-5054649-G-A c.701G>A p.R234H Missense 7/25 - 12
9-5054650-C-A c.702C>A p.R234= Synonymous 7/25 - 1
9-5054652-G-T c.704G>T p.R235I Missense 7/25 - 1
9-5054654-T-C c.706T>C p.F236L Missense 7/25 - 1
9-5054657-A-T c.709A>T p.I237F Missense 7/25 - 2
9-5054660-C-A c.712C>A p.Q238K Missense 7/25 - 4
9-5054660-C-T c.712C>T p.Q238* Nonsense 7/25 - 4
9-5054661-A-C c.713A>C p.Q238P Missense 7/25 - 1
9-5054662-G-A c.714G>A p.Q238= Synonymous 7/25 - 3
9-5054662-G-GGT c.714_715insGT p.Q239Vfs*13 Frameshift 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
9-5054665-A-G c.717A>G p.Q239= Synonymous 7/25 - 1
9-5054666-T-C c.718T>C p.F240L Missense 7/25 - 1
9-5054668-C-A c.720C>A p.F240L Missense 7/25 - 1
9-5054668-C-G c.720C>G p.F240L Missense 7/25 - 1
9-5054669-AG-TT c.721_722delinsTT p.S241F Missense 7/25 - 1
9-5054669-A-T c.721A>T p.S241C Missense 7/25 - 1
9-5054670-G-T c.722G>T p.S241I Missense 7/25 - 1
9-5054669-A-C c.721A>C p.S241R Missense 7/25 - 1
9-5054671-C-A c.723C>A p.S241R Missense 7/25 - 1
9-5054671-C-G c.723C>G p.S241R Missense 7/25 - 1
9-5054671-C-T c.723C>T p.S241= Synonymous 7/25 - 1
9-5054672-C-T c.724C>T p.Q242* Nonsense 7/25 - 1
9-5054676-G-A c.728G>A p.C243Y Missense 7/25 - 3
9-5054677-C-T c.729C>T p.C243= Synonymous 7/25 - 1
9-5054679-A-G c.731A>G p.K244R Missense 7/25 - 4
9-5054680-A-G c.732A>G p.K244= Synonymous 7/25 - 2
9-5054681-G-A c.733G>A p.A245T Missense 7/25 - 6
9-5054682-C-T c.734C>T p.A245V Missense 7/25 - 1
9-5054686-T-C c.738T>C p.T246= Synonymous 7/25 - 1
9-5054687-G-A c.739G>A p.A247T Missense 7/25 - 2
9-5054687-G-C c.739G>C p.A247P Missense 7/25 - 1
9-5054687-G-T c.739G>T p.A247S Missense 7/25 - 2
9-5054688-C-T c.740C>T p.A247V Missense 7/25 - 1
9-5054689-C-A c.741C>A p.A247= Synonymous 7/25 - 1
9-5054690-AGA-TGG c.742_744delinsTGG p.R248W Missense 7/25 - 5
9-5054690-AGA-TGT c.742_744delinsTGT p.R248C Missense 7/25 - 2
9-5054690-AG-CA c.742_743delinsCA p.R248Q Missense 7/25 - 5
9-5054691-G-A c.743G>A p.R248K Missense 7/25 - 2
9-5054691-G-C c.743G>C p.R248T Missense 7/25 - 1
9-5054692-A-C c.744A>C p.R248S Missense 7/25 - 1
9-5054692-A-G c.744A>G p.R248= Synonymous 7/25 - 1
9-5054676-G-GCAAAGCCACTGCCAGAATTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTCTCGGTTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCT c.745_746insTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTCTCGGTTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTCAAAGCCACTGCCAGAA p.R248_N249insIFFFKQKTAYEILGCDWSSDVCSSDLKATAR InFrameInsertion 7/25 - 1
9-5054695-C-T c.747C>T p.N249= Synonymous 7/25 - 1
9-5054696-T-C c.748T>C p.L250= Synonymous 7/25 - 1
9-5054696-T-G c.748T>G p.L250V Missense 7/25 - 2
9-5054697-T-C c.749T>C p.L250S Missense 7/25 - 1
9-5054698-G-A c.750G>A p.L250= Synonymous 7/25 - 1
9-5054699-AA-GG c.751_752delinsGG p.K251G Missense 7/25 - 1
9-5054699-A-G c.751A>G p.K251E Missense 7/25 - 1
9-5054702-C-G c.754C>G p.L252V Missense 7/25 - 1
9-5054703-T-C c.755T>C p.L252P Missense 7/25 - 1
9-5054705-AA-GG c.757_758delinsGG p.K253G Missense 7/25 - 1
9-5054705-A-G c.757A>G p.K253E Missense 7/25 - 1
9-5054706-A-G c.758A>G p.K253R Missense 7/25 - 1
9-5054707-G-A c.759G>A p.K253= Synonymous 7/25 - 2
9-5054707-G-C c.759G>C p.K253N Missense 7/25 - 2
9-5054707-G-T c.759G>T p.K253N Missense 7/25 - 1
9-5054708-T-C c.760T>C p.Y254H Missense 7/25 - 3
9-5054711-C-T c.763C>T p.L255F Missense 7/25 - 5
9-5054712-T-A c.764T>A p.L255H Missense 7/25 - 1
9-5054719-T-C c.771T>C p.N257= Synonymous 7/25 - 1
9-5054720-CTG-ATC c.772_774delinsATC p.L258I Missense 7/25 - 1
9-5054721-T-C c.773T>C p.L258P Missense 7/25 - 2
9-5054720-C-T c.772C>T p.L258= Synonymous 7/25 - 1
9-5054722-G-A c.774G>A p.L258= Synonymous 7/25 - 1
9-5054722-G-C c.774G>C p.L258= Synonymous 7/25 - 1
9-5054722-G-T c.774G>T p.L258= Synonymous 7/25 - 1
9-5054723-G-A c.775G>A p.E259K 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
9-5054728-T-C c.780T>C p.T260= Synonymous 7/25 - 1
9-5054729-C-T c.781C>T p.L261= Synonymous 7/25 - 1
9-5054730-T-G c.782T>G p.L261R Missense 7/25 - 1
9-5054732-CA-GC c.784_785delinsGC p.Q262A Missense 7/25 - 1
9-5054732-C-T c.784C>T p.Q262* Nonsense 7/25 - 1
9-5054734-G-C c.786G>C p.Q262H Missense 7/25 - 1
9-5054734-G-T c.786G>T p.Q262H Missense 7/25 - 2
9-5054735-TC-AT c.787_788delinsAT p.S263I Missense 7/25 - 1
9-5054735-TC-CT c.787_788delinsCT p.S263L Missense 7/25 - 1
9-5054736-C-G c.788C>G p.S263C Missense 7/25 - 1
9-5054736-C-T c.788C>T p.S263F Missense 7/25 - 1
9-5054737-T-G c.789T>G p.S263= Synonymous 7/25 - 1
9-5054738-G-T c.790G>T p.A264S Missense 7/25 - 1
9-5054739-C-A c.791C>A p.A264D Missense 7/25 - 1
9-5054739-C-T c.791C>T p.A264V Missense 7/25 - 1
9-5054741-T-C c.793T>C p.F265L Missense 7/25 - 3
9-5054741-T-G c.793T>G p.F265V Missense 7/25 - 3
9-5054743-C-A c.795C>A p.F265L Missense 7/25 - 2
9-5054742-T-C c.794T>C p.F265S Missense 7/25 - 1
9-5054743-C-G c.795C>G p.F265L Missense 7/25 - 4
9-5054745-A-C c.797A>C p.Y266S Missense 7/25 - 1
9-5054745-A-G c.797A>G p.Y266C Missense 7/25 - 1
9-5054746-C-T c.798C>T p.Y266= Synonymous 7/25 - 2
9-5054747-A-C c.799A>C p.T267P Missense 7/25 - 1
9-5054748-AC-A c.800del p.T267Kfs*6 Frameshift 7/25 - 1
9-5054750-G-A c.802G>A p.E268K Missense 7/25 - 2
9-5054751-GA-G c.803del p.E268Gfs*5 Frameshift 7/25 - 1
9-5054752-G-A c.804G>A p.E268= Synonymous 7/25 - 1
9-5054752-G-C c.804G>C p.E268D Missense 7/25 - 4
9-5054752-G-T c.804G>T p.E268D Missense 7/25 - 3
9-5054753-A-C c.805A>C p.K269Q Missense 7/25 - 4
9-5054754-A-C c.806A>C p.K269T Missense 7/25 - 1
9-5054754-A-G c.806A>G p.K269R Missense 7/25 - 1
9-5054755-A-C c.807A>C p.K269N Missense 7/25 - 1
9-5054755-A-G c.807A>G p.K269= Synonymous 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
9-5054759-G-A c.811G>A p.E271K Missense 7/25 - 1
9-5054759-G-C c.811G>C p.E271Q Missense 7/25 - 4
9-5054760-A-G c.812A>G p.E271G Missense 7/25 - 2
9-5054759-GA-G c.813del p.V272* Frameshift 7/25 - 1
9-5054762-G-A c.814G>A p.V272I Missense 7/25 - 2
9-5054762-GTA-ATG c.814_816delinsATG p.V272M Missense 7/25 - 3
9-5054763-T-G c.815T>G p.V272G Missense 7/25 - 2
9-5054764-A-C c.816A>C p.V272= Synonymous 7/25 - 1
9-5054764-A-G c.816A>G p.V272= Synonymous 7/25 - 1
9-5054764-A-T c.816A>T p.V272= Synonymous 7/25 - 1
9-5054765-AA-GC c.817_818delinsGC p.K273A Missense 7/25 - 1
9-5054766-A-C c.818A>C p.K273T Missense 7/25 - 1
9-5054766-A-G c.818A>G p.K273R Missense 7/25 - 1
9-5054768-G-A c.820G>A p.E274K Missense 7/25 - 2
9-5054768-G-C c.820G>C p.E274Q Missense 7/25 - 1
9-5054768-G-T c.820G>T p.E274* Nonsense 7/25 - 6
9-5054769-A-C c.821A>C p.E274A Missense 7/25 - 1
9-5054769-A-T c.821A>T p.E274V Missense 7/25 - 1
9-5054770-A-C c.822A>C p.E274D Missense 7/25 - 1
9-5054770-A-G c.822A>G p.E274= Synonymous 7/25 - 1
9-5054770-A-T c.822A>T p.E274D Missense 7/25 - 1
9-5054771-C-A c.823C>A p.P275T Missense 7/25 - 1
9-5054771-C-T c.823C>T p.P275S Missense 7/25 - 5
9-5054772-C-A c.824C>A p.P275H Missense 7/25 - 1
9-5054772-C-T c.824C>T p.P275L Missense 7/25 - 1
9-5054775-G-A c.827G>A p.G276E Missense 7/25 - 1
9-5054775-G-C c.827G>C p.G276A Missense 7/25 - 6
9-5054775-G-T c.827G>T p.G276V Missense 7/25 - 3
9-5054776-A-G c.828A>G p.G276= Synonymous 7/25 - 1
9-5054778-G-A c.830G>A p.S277N Missense 7/25 - 2
9-5054778-G-C c.830G>C p.S277T Missense 7/25 - 1
9-5054778-G-T c.830G>T p.S277I Missense 7/25 - 1
9-5054777-A-C c.829A>C p.S277R Missense 7/25 - 2
9-5054779-T-A c.831T>A p.S277R Missense 7/25 - 4
9-5054779-T-G c.831T>G p.S277R Missense 7/25 - 3
9-5054779-TG-T c.833del p.G278Vfs*12 Frameshift 7/25 - 1
9-5054781-G-A c.833G>A p.G278D Missense 7/25 - 1
9-5054781-GT-AG c.833_834delinsAG p.G278E Missense 7/25 - 1
9-5054782-T-A c.834T>A p.G278= Synonymous 7/25 - 1
9-5054782-T-C c.834T>C p.G278= Synonymous 7/25 - 1
9-5054782-T-G c.834T>G p.G278= Synonymous 7/25 - 1
9-5054783-C-A c.835C>A p.P279T Missense 7/25 - 1
9-5054782-TC-T c.836del p.P279Lfs*11 Frameshift 7/25 - 1
9-5054784-C-A c.836C>A p.P279H Missense 7/25 - 1
9-5054784-C-T c.836C>T p.P279L Missense 7/25 - 6
9-5054786-T-G c.838T>G p.S280A Missense 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-T c.839C>T p.S280L Missense 7/25 - 4
9-5054787-C-CA c.840dup p.G281Rfs*2 Frameshift 7/25 - 1
9-5054788-A-C c.840A>C p.S280= Synonymous 7/25 - 2
9-5054788-A-G c.840A>G p.S280= Synonymous 7/25 - 3
9-5054788-A-T c.840A>T p.S280= Synonymous 7/25 - 2
9-5054789-G-A c.841G>A p.G281S Missense 7/25 - 1
9-5054789-GG-AA c.841_842delinsAA p.G281N Missense 7/25 - 1
9-5054790-G-A c.842G>A p.G281D Missense 7/25 - 2
9-5054791-GT-G c.843del p.E282Rfs*8 Frameshift 7/25 - 1
9-5054792-G-A c.844G>A p.E282K Missense 7/25 - 1
9-5054792-G-C c.844G>C p.E282Q Missense 7/25 - 1
9-5054795-G-A c.847G>A p.E283K Missense 7/25 - 1
9-5054797-G-A c.849G>A p.E283= Synonymous 7/25 - 1
9-5054798-A-T c.850A>T p.I284F Missense 7/25 - 1
9-5054800-T-G c.852T>G p.I284M Missense 7/25 - 1
9-5054801-T-C c.853T>C p.F285L Missense 7/25 - 1
9-5054803-T-A c.855T>A p.F285L Missense 7/25 - 1
9-5054803-T-G c.855T>G p.F285L Missense 7/25 - 1
9-5054802-T-C c.854T>C p.F285S Missense 7/25 - 1
9-5054804-G-A c.856G>A p.A286T Missense 7/25 - 2
9-5054804-G-T c.856G>T p.A286S Missense 7/25 - 1
9-5054804-TGCA-T c.856_858del p.A286del InFrameDeletion 7/25 - 1
9-5054805-C-T c.857C>T p.A286V Missense 7/25 - 1
9-5054807-AC-GA c.859_860delinsGA p.T287D Missense 7/25 - 1
9-5054808-C-G c.860C>G p.T287S Missense 7/25 - 1
9-5054811-T-C c.863T>C p.I288T Missense 7/25 - 1
9-5054813-ATA-TTT c.865_867delinsTTT p.I289F Missense 7/25 - 1
9-5054811-TTA-T c.866_867del p.I289Nfs*15 Frameshift 7/25 - 1
9-5054814-T-A c.866T>A p.I289K Missense 7/25 - 2
9-5054819-A-T c.871A>T p.T291S Missense 7/25 - 2
9-5054820-C-G c.872C>G p.T291S Missense 7/25 - 2
9-5054820-C-T c.872C>T p.T291I Missense 7/25 - 1
9-5054820-CT-TG c.872_873delinsTG p.T291M Missense 7/25 - 1
9-5054822-G-A c.874G>A p.G292R Missense 7/25 - 1
9-5054822-G-C c.874G>C p.G292R Missense 7/25 - 1
9-5054822-GG-AA c.874_875delinsAA p.G292K Missense 7/25 - 1
9-5054823-G-A c.875G>A p.G292E Missense 7/25 - 2
9-5054823-GA-AC c.875_876delinsAC p.G292D Missense 7/25 - 1
9-5054824-A-T c.876A>T p.G292= Synonymous 7/25 - 1
9-5054828-G-A c.880G>A p.G294S Missense 7/25 - 2
9-5054828-G-C c.880G>C p.G294R Missense 7/25 - 1
9-5054829-G-A c.881G>A p.G294D Missense 7/25 - 1
9-5054829-G-T c.881G>T p.G294V Missense 7/25 - 1
9-5054831-G-A c.883G>A p.G295R Missense 7/25 - 1
9-5054831-G-T c.883G>T p.G295* Nonsense 7/25 - 2
9-5054832-G-A c.884G>A p.G295E Missense 7/25 - 4
9-5054836-TC-AA c.888_889delinsAA p.Q297K 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-A c.894G>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-A c.896C>A p.S299* Nonsense 7/25 - 2
9-5054844-CA-TT c.896_897delinsTT p.S299F Missense 7/25 - 1
9-5054844-C-G c.896C>G p.S299* Nonsense 7/25 - 1
9-5054844-C-T c.896C>T p.S299L Missense 7/25 - 1
9-5054844-CA-C c.898del p.R300Efs*10 Frameshift 7/25 - 1
9-5054846-A-G c.898A>G p.R300G Missense 7/25 - 1
9-5054846-AGA-CAT c.898_900delinsCAT p.R300H Missense 7/25 - 1
9-5054846-AGA-TGT c.898_900delinsTGT p.R300C Missense 7/25 - 1
9-5054846-AG-CA c.898_899delinsCA p.R300Q Missense 7/25 - 1
9-5054847-G-A c.899G>A p.R300K Missense 7/25 - 3
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 - 2
9-5054852-A-G c.904A>G p.K302E Missense 7/25 - 2
9-5054856-A-T c.908A>T p.H303L Missense 7/25 - 1
9-5054859-A-C c.911A>C p.K304T Missense 7/25 - 3
9-5054860-A-C c.912A>C p.K304N Missense 7/25 - 1
9-5054860-A-G c.912A>G p.K304= Synonymous 7/25 - 1
9-5054860-A-T c.912A>T p.K304N Missense 7/25 - 1
9-5054861-G-A c.913G>A p.E305K Missense 7/25 - 1
9-5054861-G-C c.913G>C p.E305Q Missense 7/25 - 1
9-5054863-A-G c.915A>G p.E305= Synonymous 7/25 - 1
9-5054866-T-C c.918T>C p.S306= Synonymous 7/25 - 3
9-5054867-G-A c.919G>A p.E307K Missense 7/25 - 2
9-5054869-G-C c.921G>C p.E307D Missense 7/25 - 1
9-5054870-A-C c.922A>C p.T308P Missense 7/25 - 2
9-5054870-ACA-CAT c.922_924delinsCAT p.T308H Missense 7/25 - 1
9-5054870-A-G c.922A>G p.T308A Missense 7/25 - 1
9-5054871-CA-TG c.923_924inv p.T308M Missense 7/25 - 1
9-5054873-CTG-ATC c.925_927delinsATC p.L309I 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
9-5054877-C-T c.929C>T p.T310I Missense 7/25 - 2
9-5054879-G-A c.931G>A p.E311K Missense 7/25 - 2
9-5054879-G-T c.931G>T p.E311* Nonsense 7/25 - 1
9-5054882-C-T c.934C>T p.Q312* Nonsense 7/25 - 2
9-5054884-G-C c.936G>C p.Q312H Missense 7/25 - 1
9-5054884-G-T c.936G>T p.Q312H Missense 7/25 - 1
9-5054885-G-A c.936+1G>A - IntronicSNV - 7/24 1
9-5054886-T-C c.936+2T>C - IntronicSNV - 7/24 1
9-5054886-T-G c.936+2T>G - IntronicSNV - 7/24 1
9-5054901-AT-A c.936+17del - IntronicDeletion - 7/24 1
9-5054915-GT-G c.936+33del - IntronicDeletion - 7/24 1
9-5055015-C-T c.936+131C>T - IntronicSNV - 7/24 6
9-5055434-C-T c.937-235C>T - IntronicSNV - 7/24 5
9-5055669-G-A c.937G>A p.D313N Missense 8/25 - 1
9-5055669-G-C c.937G>C p.D313H Missense 8/25 - 2
9-5055670-A-C c.938A>C p.D313A Missense 8/25 - 1
9-5055672-T-A c.940T>A p.L314I Missense 8/25 - 1
9-5055672-T-C c.940T>C p.L314= Synonymous 8/25 - 1
9-5055674-A-G c.942A>G p.L314= Synonymous 8/25 - 1
9-5055676-A-T c.944A>T p.Q315L Missense 8/25 - 1
9-5055678-T-G c.946T>G p.L316V Missense 8/25 - 1
9-5055678-TTA-ATG c.946_948delinsATG p.L316M Missense 8/25 - 1
9-5055678-TT-CC c.946_947delinsCC p.L316P Missense 8/25 - 1
9-5055679-T-A c.947T>A p.L316* Nonsense 8/25 - 1
9-5055679-T-G c.947T>G p.L316* Nonsense 8/25 - 1
9-5055680-A-C c.948A>C p.L316F Missense 8/25 - 1
9-5055680-A-T c.948A>T p.L316F Missense 8/25 - 1
9-5055681-T-C c.949T>C p.Y317H Missense 8/25 - 4
9-5055684-T-C c.952T>C p.C318R Missense 8/25 - 1
9-5055686-C-A c.954C>A p.C318* Nonsense 8/25 - 1
9-5055686-C-T c.954C>T p.C318= Synonymous 8/25 - 3
9-5055687-G-A c.955G>A p.D319N Missense 8/25 - 13
9-5055688-A-G c.956A>G p.D319G Missense 8/25 - 1
9-5055694-C-T c.962C>T p.P321L Missense 8/25 - 2
9-5055696-A-C c.964A>C p.N322H Missense 8/25 - 1
9-5055696-A-G c.964A>G p.N322D Missense 8/25 - 1
9-5055699-A-G c.967A>G p.I323V Missense 8/25 - 1
9-5055700-T-C c.968T>C p.I323T Missense 8/25 - 1
9-5055701-T-G c.969T>G p.I323M Missense 8/25 - 1
9-5055703-T-C c.971T>C p.I324T Missense 8/25 - 1
9-5055703-T-G c.971T>G p.I324S Missense 8/25 - 1
9-5055705-GAT-AAG c.973_975delinsAAG p.D325K Missense 8/25 - 1
9-5055705-G-C c.973G>C p.D325H Missense 8/25 - 1
9-5055705-G-T c.973G>T p.D325Y Missense 8/25 - 2
9-5055706-A-G c.974A>G p.D325G Missense 8/25 - 1
9-5055708-G-A c.976G>A p.V326I Missense 8/25 - 1
9-5055709-T-C c.977T>C p.V326A Missense 8/25 - 1
9-5055711-AG-TT c.979_980delinsTT p.S327F Missense 8/25 - 1
9-5055712-G-A c.980G>A p.S327N Missense 8/25 - 2
9-5055712-G-C c.980G>C p.S327T Missense 8/25 - 2
9-5055714-A-G c.982A>G p.I328V Missense 8/25 - 2
9-5055717-AAG-CAT c.985_987delinsCAT p.K329H Missense 8/25 - 1
9-5055720-C-T c.988C>T p.Q330* Nonsense 8/25 - 1
9-5055721-A-G c.989A>G p.Q330R Missense 8/25 - 1
9-5055723-G-A c.991G>A p.A331T Missense 8/25 - 3
9-5055724-C-T c.992C>T p.A331V Missense 8/25 - 1
9-5055727-A-G c.995A>G p.N332S Missense 8/25 - 3
9-5055729-C-G c.997C>G p.Q333E Missense 8/25 - 2
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
9-5055731-A-AT c.999_1000insT p.E334* Nonsense 8/25 - 1
9-5055732-G-T c.1000G>T p.E334* Nonsense 8/25 - 1
9-5055733-A-G c.1001A>G p.E334G Missense 8/25 - 1
9-5055734-G-C c.1002G>C p.E334D Missense 8/25 - 1
9-5055734-G-T c.1002G>T p.E334D Missense 8/25 - 1
9-5055735-G-A c.1003G>A p.G335S Missense 8/25 - 3
9-5055736-G-A c.1004G>A p.G335D Missense 8/25 - 4
9-5055736-G-T c.1004G>T p.G335V Missense 8/25 - 1
9-5055739-C-A c.1007C>A p.S336* Nonsense 8/25 - 2
9-5055739-C-G c.1007C>G p.S336* Nonsense 8/25 - 3
9-5055741-A-C c.1009A>C p.N337H Missense 8/25 - 1
9-5055741-A-G c.1009A>G p.N337D Missense 8/25 - 6
9-5055741-A-T c.1009A>T p.N337Y Missense 8/25 - 2
9-5055739-C-CA c.1010dup p.N337Kfs*2 Frameshift 8/25 - 1
9-5055742-A-AT c.1011dup p.E338* Nonsense 8/25 - 3
9-5055743-T-G c.1011T>G p.N337K Missense 8/25 - 1
9-5055744-G-A c.1012G>A p.E338K Missense 8/25 - 1
9-5055745-A-T c.1013A>T p.E338V Missense 8/25 - 1
9-5055744-GA-G c.1015del p.S339Afs*4 Frameshift 8/25 - 5
9-5055747-AG-TT c.1015_1016delinsTT p.S339F Missense 8/25 - 1
9-5055747-A-T c.1015A>T p.S339C Missense 8/25 - 1
9-5055748-G-C c.1016G>C p.S339T Missense 8/25 - 1
9-5055748-G-T c.1016G>T p.S339I Missense 8/25 - 1
9-5055748-G-GC c.1018dup p.R340Pfs*7 Frameshift 8/25 - 1
9-5055750-CGA-TGG c.1018_1020delinsTGG p.R340W Missense 8/25 - 2
9-5055750-C-T c.1018C>T p.R340* Nonsense 8/25 - 4
9-5055751-CG-C c.1019del p.R340Qfs*3 Frameshift 8/25 - 1
9-5055751-G-A c.1019G>A p.R340Q Missense 8/25 - 2
9-5055753-G-A c.1021G>A p.V341I Missense 8/25 - 1
9-5055753-GTT-ATG c.1021_1023delinsATG p.V341M 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
9-5055756-G-A c.1024G>A p.V342I Missense 8/25 - 1
9-5055756-G-C c.1024G>C p.V342L Missense 8/25 - 1
9-5055757-T-C c.1025T>C p.V342A Missense 8/25 - 1
9-5055758-A-G c.1026A>G p.V342= Synonymous 8/25 - 1
9-5055759-A-G c.1027A>G p.T343A Missense 8/25 - 1
9-5055760-C-T c.1028C>T p.T343I Missense 8/25 - 1
9-5055765-C-A c.1033C>A p.H345N Missense 8/25 - 1
9-5055769-A-G c.1037A>G p.K346R Missense 8/25 - 3
9-5055774-G-T c.1042G>T p.D348Y Missense 8/25 - 1
9-5055778-G-C c.1046G>C p.G349A Missense 8/25 - 1
9-5055778-G-T c.1046G>T p.G349V 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 - 3
9-5055786-CTG-ATC c.1054_1056delinsATC p.L352I Missense 8/25 - 1
9-5055787-T-G c.1055T>G p.L352R Missense 8/25 - 1
9-5055788-G-T c.1056G>T p.L352= Synonymous 8/25 - 1
9-5055790-T-C c.1056+2T>C - IntronicSNV - 8/24 1
9-5055937-G-A c.1056+149G>A - IntronicSNV - 8/24 1
9-5056037-A-G c.1056+249A>G - IntronicSNV - 8/24 2
9-5056196-T-C c.1056+408T>C - IntronicSNV - 8/24 1
9-5056282-T-A c.1056+494T>A - IntronicSNV - 8/24 1
9-5056482-G-A c.1056+694G>A - IntronicSNV - 8/24 2
9-5056482-G-T c.1056+694G>T - IntronicSNV - 8/24 2
9-5056817-T-A c.1056+1029T>A - IntronicSNV - 8/24 1
9-5056931-C-A c.1056+1143C>A - IntronicSNV - 8/24 5
9-5057284-T-A c.1056+1496T>A - IntronicSNV - 8/24 5
9-5057568-G-C c.1056+1780G>C - IntronicSNV - 8/24 1
9-5057568-G-T c.1056+1780G>T - IntronicSNV - 8/24 1
9-5058048-A-G c.1056+2260A>G - IntronicSNV - 8/24 1
9-5058991-A-C c.1056+3203A>C - IntronicSNV - 8/24 3
9-5058991-A-T c.1056+3203A>T - IntronicSNV - 8/24 3
9-5059190-C-T c.1056+3402C>T - IntronicSNV - 8/24 1
9-5059440-C-T c.1056+3652C>T - IntronicSNV - 8/24 6
9-5059543-T-C c.1056+3755T>C - IntronicSNV - 8/24 1
9-5059593-T-C c.1056+3805T>C - IntronicSNV - 8/24 1
9-5059767-T-A c.1056+3979T>A - IntronicSNV - 8/24 1
9-5060334-G-A c.1056+4546G>A - IntronicSNV - 8/24 1
9-5060334-G-T c.1056+4546G>T - IntronicSNV - 8/24 2
9-5061405-A-C c.1057-3478A>C - IntronicSNV - 8/24 1
9-5061405-A-G c.1057-3478A>G - IntronicSNV - 8/24 1
9-5061578-G-A c.1057-3305G>A - IntronicSNV - 8/24 1
9-5062056-G-A c.1057-2827G>A - IntronicSNV - 8/24 1
9-5062473-T-A c.1057-2410T>A - IntronicSNV - 8/24 2
9-5062473-T-C c.1057-2410T>C - IntronicSNV - 8/24 2
9-5062553-T-A c.1057-2330T>A - IntronicSNV - 8/24 1
9-5062610-T-C c.1057-2273T>C - IntronicSNV - 8/24 1
9-5062816-C-A c.1057-2067C>A - IntronicSNV - 8/24 1
9-5062816-C-T c.1057-2067C>T - IntronicSNV - 8/24 1
9-5062826-G-A c.1057-2057G>A - IntronicSNV - 8/24 1
9-5062837-T-A c.1057-2046T>A - IntronicSNV - 8/24 1
9-5062837-T-C c.1057-2046T>C - IntronicSNV - 8/24 1
9-5062844-A-T c.1057-2039A>T - IntronicSNV - 8/24 1
9-5062932-C-G c.1057-1951C>G - IntronicSNV - 8/24 1
9-5062932-C-T c.1057-1951C>T - IntronicSNV - 8/24 1
9-5063199-G-A c.1057-1684G>A - IntronicSNV - 8/24 2
9-5063199-G-T c.1057-1684G>T - IntronicSNV - 8/24 2
9-5063296-G-T c.1057-1587G>T - IntronicSNV - 8/24 6
9-5063664-T-A c.1057-1219T>A - IntronicSNV - 8/24 1
9-5063664-T-C c.1057-1219T>C - IntronicSNV - 8/24 1
9-5063690-T-A c.1057-1193T>A - IntronicSNV - 8/24 1
9-5063690-T-C c.1057-1193T>C - IntronicSNV - 8/24 1
9-5063701-T-A c.1057-1182T>A - IntronicSNV - 8/24 4
9-5063701-T-C c.1057-1182T>C - IntronicSNV - 8/24 4
9-5063884-A-G c.1057-999A>G - IntronicSNV - 8/24 1
9-5063885-T-C c.1057-998T>C - IntronicSNV - 8/24 1
9-5063885-T-G c.1057-998T>G - IntronicSNV - 8/24 1
9-5063994-A-G c.1057-889A>G - IntronicSNV - 8/24 1
9-5064193-T-C c.1057-690T>C - IntronicSNV - 8/24 3
9-5064548-G-A c.1057-335G>A - IntronicSNV - 8/24 1
9-5064883-G-A c.1057G>A p.E353K Missense 9/25 - 1
9-5064885-A-C c.1059A>C p.E353D Missense 9/25 - 1
9-5064885-A-T c.1059A>T p.E353D Missense 9/25 - 1
9-5064886-A-G c.1060A>G p.I354V Missense 9/25 - 2
9-5064887-T-C c.1061T>C p.I354T Missense 9/25 - 1
9-5064888-T-A c.1062T>A p.I354= Synonymous 9/25 - 1
9-5064888-T-C c.1062T>C p.I354= Synonymous 9/25 - 1
9-5064889-G-A c.1063G>A p.E355K Missense 9/25 - 1
9-5064890-A-C c.1064A>C p.E355A Missense 9/25 - 2
9-5064890-A-G c.1064A>G p.E355G Missense 9/25 - 4
9-5064891-A-T c.1065A>T p.E355D Missense 9/25 - 1
9-5064893-T-C c.1067T>C p.L356P Missense 9/25 - 1
9-5064893-T-G c.1067T>G p.L356R Missense 9/25 - 1
9-5064898-TCA-AAC c.1072_1074delinsAAC p.S358N Missense 9/25 - 1
9-5064899-C-A c.1073C>A p.S358* Nonsense 9/25 - 4
9-5064899-CA-GT c.1073_1074delinsGT p.S358C Missense 9/25 - 1
9-5064899-C-G c.1073C>G p.S358* Nonsense 9/25 - 3
9-5064901-T-C c.1075T>C p.L359= Synonymous 9/25 - 2
9-5064901-T-G c.1075T>G p.L359V Missense 9/25 - 3
9-5064903-A-G c.1077A>G p.L359= Synonymous 9/25 - 2
9-5064904-AG-CT c.1078_1079inv p.R360L Missense 9/25 - 1
9-5064904-AG-TA c.1078_1079delinsTA p.R360* Nonsense 9/25 - 1
9-5064905-G-T c.1079G>T p.R360M Missense 9/25 - 1
9-5064906-G-A c.1080G>A p.R360= Synonymous 9/25 - 1
9-5064906-G-C c.1080G>C p.R360S Missense 9/25 - 1
9-5064907-G-C c.1081G>C p.E361Q Missense 9/25 - 1
9-5064909-A-C c.1083A>C p.E361D Missense 9/25 - 1
9-5064909-A-T c.1083A>T p.E361D Missense 9/25 - 1
9-5064910-G-A c.1084G>A p.A362T Missense 9/25 - 1
9-5064914-T-TG c.1089dup p.S364Vfs*7 Frameshift 9/25 - 2
9-5064915-G-C c.1089G>C p.L363F Missense 9/25 - 2
9-5064915-G-T c.1089G>T p.L363F Missense 9/25 - 2
9-5064916-T-C c.1090T>C p.S364P Missense 9/25 - 2
9-5064917-C-G c.1091C>G p.S364C Missense 9/25 - 3
9-5064917-CTTTCGTGTCATTAATTGATGGATATTATAGATTAACTGCAGATGCACATCAT-C c.1093_1144del p.F365Tfs*6 Frameshift 9/25 - 5
9-5064919-T-C c.1093T>C p.F365L Missense 9/25 - 1
9-5064921-C-A c.1095C>A p.F365L Missense 9/25 - 1
9-5064921-C-G c.1095C>G p.F365L Missense 9/25 - 2
9-5064921-C-T c.1095C>T p.F365= Synonymous 9/25 - 8
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 - 9
9-5064922-G-C c.1096G>C p.V366L Missense 9/25 - 2
9-5064922-G-T c.1096G>T p.V366L Missense 9/25 - 3
9-5064923-T-G c.1097T>G p.V366G Missense 9/25 - 3
9-5064925-GTCATTAATTGATGGATATTATAGATTAACTGCAGATGCACATCATTACCTCT-G c.1099_1150del p.S367Vfs*4 Frameshift 9/25 - 1
9-5064925-T-C c.1099T>C p.S367P Missense 9/25 - 1
9-5064925-TC-AT c.1099_1100delinsAT p.S367I Missense 9/25 - 1
9-5064925-T-G c.1099T>G p.S367A Missense 9/25 - 1
9-5064926-C-A c.1100C>A p.S367* Nonsense 9/25 - 1
9-5064926-CA-TT c.1100_1101delinsTT p.S367F Missense 9/25 - 1
9-5064926-C-G c.1100C>G p.S367* Nonsense 9/25 - 2
9-5064926-C-T c.1100C>T p.S367L Missense 9/25 - 3
9-5064927-A-G c.1101A>G p.S367= Synonymous 9/25 - 1
9-5064928-ATTAATTGATGGATATTATAGATTAACTGCAGATG-A c.1102_1135del p.L368Hfs*9 Frameshift 9/25 - 1
9-5064928-T-C c.1102T>C p.L368= Synonymous 9/25 - 1
9-5064930-A-G c.1104A>G p.L368= Synonymous 9/25 - 1
9-5064931-A-G c.1105A>G p.I369V Missense 9/25 - 3
9-5064931-A-T c.1105A>T p.I369F Missense 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
9-5064933-T-A c.1107T>A p.I369= Synonymous 9/25 - 1
9-5064933-T-C c.1107T>C p.I369= Synonymous 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 - 4
9-5064934-G-T c.1108G>T p.D370Y Missense 9/25 - 1
9-5064934-TG-T c.1108del p.D370Mfs*6 Frameshift 9/25 - 1
9-5064937-G-A c.1111G>A p.G371R Missense 9/25 - 1
9-5064937-GGA-TGT c.1111_1113delinsTGT p.G371C Missense 9/25 - 1
9-5064936-TG-T c.1112del p.G371Dfs*5 Frameshift 9/25 - 1
9-5064938-G-A c.1112G>A p.G371E Missense 9/25 - 2
9-5064939-A-G c.1113A>G p.G371= Synonymous 9/25 - 1
9-5064940-T-A c.1114T>A p.Y372N Missense 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-AGA-TGT c.1120_1122delinsTGT p.R374C Missense 9/25 - 1
9-5064946-AG-CT c.1120_1121inv p.R374L Missense 9/25 - 1
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
9-5064947-G-C c.1121G>C p.R374T Missense 9/25 - 2
9-5064946-A-C c.1120A>C p.R374= Synonymous 9/25 - 1
9-5064948-A-G c.1122A>G p.R374= Synonymous 9/25 - 1
9-5064949-T-C c.1123T>C p.L375= Synonymous 9/25 - 2
9-5064951-A-G c.1125A>G p.L375= Synonymous 9/25 - 2
9-5064951-TAACTGCAGATGCACATCATTACC-T c.1125_1147del p.L375Ffs*3 Frameshift 9/25 - 1
9-5064950-TA-T c.1126del p.T376Lfs*12 Frameshift 9/25 - 1
9-5064952-A-C c.1126A>C p.T376P Missense 9/25 - 1
9-5064952-A-G c.1126A>G p.T376A Missense 9/25 - 1
9-5064953-C-T c.1127C>T p.T376I Missense 9/25 - 1
9-5064955-TGCAGATGCAC-T c.1129_1138del p.A377Ifs*8 Frameshift 9/25 - 1
9-5064956-C-A c.1130C>A p.A377E Missense 9/25 - 3
9-5064956-C-T c.1130C>T p.A377V Missense 9/25 - 1
9-5064958-G-A c.1132G>A p.D378N Missense 9/25 - 3
9-5064958-G-T c.1132G>T p.D378Y 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 - 2
9-5064968-A-G c.1142A>G p.H381R Missense 9/25 - 1
9-5064968-AT-A c.1144del p.Y382Tfs*6 Frameshift 9/25 - 1
9-5064970-T-C c.1144T>C p.Y382H Missense 9/25 - 2
9-5064971-A-G c.1145A>G p.Y382C Missense 9/25 - 1
9-5064972-C-A c.1146C>A p.Y382* Nonsense 9/25 - 1
9-5064973-C-G c.1147C>G p.L383V Missense 9/25 - 1
9-5064974-T-C c.1148T>C p.L383P Missense 9/25 - 4
9-5064976-T-C c.1150T>C p.C384R Missense 9/25 - 2
9-5064977-G-A c.1151G>A p.C384Y Missense 9/25 - 1
9-5064980-A-ATTGTC c.1154_1155insTTGTC p.K385Nfs*5 Frameshift 9/25 - 6
9-5064981-A-C c.1155A>C p.K385N Missense 9/25 - 1
9-5064981-A-T c.1155A>T p.K385N Missense 9/25 - 1
9-5064981-A-AG c.1156dup p.E386Gfs*9 Frameshift 9/25 - 1
9-5064982-G-T c.1156G>T p.E386* Nonsense 9/25 - 2
9-5064983-A-G c.1157A>G p.E386G Missense 9/25 - 1
9-5064984-A-C c.1158A>C p.E386D Missense 9/25 - 1
9-5064984-A-G c.1158A>G p.E386= Synonymous 9/25 - 1
9-5064984-A-T c.1158A>T p.E386D Missense 9/25 - 1
9-5064985-G-A c.1159G>A p.V387I Missense 9/25 - 1
9-5064985-G-C c.1159G>C p.V387L Missense 9/25 - 1
9-5064985-G-T c.1159G>T p.V387L Missense 9/25 - 1
9-5064986-T-G c.1160T>G p.V387G Missense 9/25 - 1
9-5064988-G-A c.1162G>A p.A388T Missense 9/25 - 1
9-5064991-C-G c.1165C>G p.P389A 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 - 2
9-5064997-G-A c.1171G>A p.A391T Missense 9/25 - 1
9-5064997-G-C c.1171G>C p.A391P Missense 9/25 - 1
9-5064997-G-T c.1171G>T p.A391S Missense 9/25 - 2
9-5064998-CC-AG c.1172_1173delinsAG p.A391E Missense 9/25 - 2
9-5064998-C-T c.1172C>T p.A391V Missense 9/25 - 1
9-5064999-C-A c.1173C>A p.A391= Synonymous 9/25 - 1
9-5064999-C-G c.1173C>G p.A391= Synonymous 9/25 - 1
9-5064999-C-T c.1173C>T p.A391= Synonymous 9/25 - 2
9-5065000-G-A c.1174G>A p.V392M Missense 9/25 - 15
9-5065001-T-C c.1175T>C p.V392A Missense 9/25 - 1
9-5065003-C-A c.1177C>A p.L393I Missense 9/25 - 1
9-5065003-C-G c.1177C>G p.L393V Missense 9/25 - 24
9-5065004-T-C c.1178T>C p.L393P Missense 9/25 - 1
9-5065006-G-A c.1180G>A p.E394K Missense 9/25 - 2
9-5065008-A-C c.1182A>C p.E394D Missense 9/25 - 1
9-5065008-A-G c.1182A>G p.E394= Synonymous 9/25 - 1
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-G c.1189C>G p.Q397E Missense 9/25 - 1
9-5065017-A-C c.1191A>C p.Q397H Missense 9/25 - 1
9-5065018-A-C c.1192A>C p.S398R Missense 9/25 - 1
9-5065018-AG-GC c.1192_1193delinsGC p.S398A Missense 9/25 - 1
9-5065018-AG-TT c.1192_1193delinsTT p.S398F Missense 9/25 - 1
9-5065019-G-A c.1193G>A p.S398N Missense 9/25 - 1
9-5065019-G-T c.1193G>T p.S398I 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 - 2
9-5065025-G-C c.1199G>C p.C400S Missense 9/25 - 2
9-5065026-T-TGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAAGAAGAATGAA c.1200_1201insGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAAGAAGAATGAA p.H401Dfs*7 Frameshift 9/25 - 1
9-5064962-C-CACATCATTACCTCTGTAAAGAAGTAGCACCTCCAGCCGTGCTTGAAAATATACAAAGCAACTGTCACG c.1202_1203insCGACATCATTACCTCTGTAAAGAAGTAGCACCTCCAGCCGTGCTTGAAAATATACAAAGCAACTGTCA p.G402Dfs*9 Frameshift 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
9-5065030-G-A c.1204G>A p.G402S Missense 9/25 - 4
9-5065030-G-C c.1204G>C p.G402R Missense 9/25 - 2
9-5065031-G-A c.1205G>A p.G402D Missense 9/25 - 1
9-5065034-C-T c.1208C>T p.P403L Missense 9/25 - 1
9-5065035-A-G c.1209A>G p.P403= Synonymous 9/25 - 1
9-5065035-A-T c.1209A>T p.P403= Synonymous 9/25 - 1
9-5065037-T-A c.1211T>A p.I404N Missense 9/25 - 1
9-5065039-T-G c.1213T>G p.S405A Missense 9/25 - 1
9-5065040-C-T c.1214C>T p.S405L Missense 9/25 - 4
9-5065041-G-A c.1214+1G>A - IntronicSNV - 9/24 1
9-5065041-G-C c.1214+1G>C - IntronicSNV - 9/24 3
9-5065750-G-C c.1214+710G>C - IntronicSNV - 9/24 10
9-5066560-A-T c.1215-118A>T - IntronicSNV - 9/24 1
9-5066617-A-T c.1215-61A>T - IntronicSNV - 9/24 1
9-5066666-C-T c.1215-12C>T - IntronicSNV - 9/24 1
9-5066678-G-A c.1215G>A p.S405= Synonymous 10/25 - 1
9-5066678-G-C c.1215G>C p.S405= Synonymous 10/25 - 1
9-5066678-G-T c.1215G>T p.S405= Synonymous 10/25 - 1
9-5066681-G-A c.1218G>A p.M406I Missense 10/25 - 1
9-5066682-G-A c.1219G>A p.D407N Missense 10/25 - 2
9-5066682-GAT-TGG c.1219_1221delinsTGG p.D407W Missense 10/25 - 1
9-5066682-G-C c.1219G>C p.D407H Missense 10/25 - 2
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 - 3
9-5066689-C-T c.1226C>T p.A409V Missense 10/25 - 1
9-5066691-A-C c.1228A>C p.I410L 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
9-5066700-C-G c.1237C>G p.L413V 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
9-5066703-A-G c.1240A>G p.K414E Missense 10/25 - 1
9-5066705-G-C c.1242G>C p.K414N Missense 10/25 - 3
9-5066705-G-T c.1242G>T p.K414N Missense 10/25 - 4
9-5066706-A-ATTTTTTTCAAGCAGAAGACGGCATACGAGATGACGGATTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTAAGGCGTAC c.1243_1244insTTTTTTTCAAGCAGAAGACGGCATACGAGATGACGGATTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTAAGGCGTAC p.K415Ifs*31 Frameshift 10/25 - 1
9-5066712-G-A c.1249G>A p.G417S Missense 10/25 - 4
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
9-5066714-T-A c.1251T>A p.G417= Synonymous 10/25 - 1
9-5066714-T-C c.1251T>C p.G417= Synonymous 10/25 - 1
9-5066714-T-G c.1251T>G p.G417= Synonymous 10/25 - 1
9-5066716-A-G c.1253A>G p.N418S Missense 10/25 - 1
9-5066720-G-C c.1257G>C p.Q419H Missense 10/25 - 1
9-5066720-G-T c.1257G>T p.Q419H Missense 10/25 - 1
9-5066721-A-T c.1258A>T p.T420S Missense 10/25 - 1
9-5066722-C-G c.1259C>G p.T420S Missense 10/25 - 1
9-5066722-C-T c.1259C>T p.T420I Missense 10/25 - 1
9-5066724-GGA-TGT c.1261_1263delinsTGT p.G421C Missense 10/25 - 1
9-5066725-G-T c.1262G>T p.G421V Missense 10/25 - 1
9-5066728-T-C c.1265T>C p.L422P Missense 10/25 - 1
9-5066731-A-G c.1268A>G p.Y423C Missense 10/25 - 1
9-5066734-T-C c.1271T>C p.V424A Missense 10/25 - 1
9-5066736-C-T c.1273C>T p.L425F Missense 10/25 - 1
9-5066738-T-A c.1275T>A p.L425= Synonymous 10/25 - 1
9-5066738-T-C c.1275T>C p.L425= Synonymous 10/25 - 1
9-5066738-T-G c.1275T>G p.L425= Synonymous 10/25 - 1
9-5066739-CGA-AGC c.1276_1278delinsAGC p.R426S 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 - 6
9-5066740-G-A c.1277G>A p.R426Q Missense 10/25 - 5
9-5066742-TG-GC c.1279_1280delinsGC p.C427A Missense 10/25 - 1
9-5066743-G-A c.1280G>A p.C427Y Missense 10/25 - 1
9-5066744-C-G c.1281C>G p.C427W Missense 10/25 - 1
9-5066745-AG-TT c.1282_1283delinsTT p.S428F Missense 10/25 - 2
9-5066746-G-A c.1283G>A p.S428N Missense 10/25 - 2
9-5066747-T-C c.1284T>C p.S428= Synonymous 10/25 - 1
9-5066748-CC-TA c.1285_1286delinsTA p.P429Y Missense 10/25 - 1
9-5066750-T-A c.1287T>A p.P429= Synonymous 10/25 - 4
9-5066750-T-C c.1287T>C p.P429= Synonymous 10/25 - 4
9-5066750-T-G c.1287T>G p.P429= Synonymous 10/25 - 5
9-5066751-A-C c.1288A>C p.K430Q Missense 10/25 - 1
9-5066751-A-T c.1288A>T p.K430* Nonsense 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
9-5066754-G-A c.1291G>A p.D431N 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 - 6
9-5066761-A-T c.1298A>T p.N433I Missense 10/25 - 1
9-5066762-T-A c.1299T>A p.N433K Missense 10/25 - 1
9-5066762-T-G c.1299T>G p.N433K Missense 10/25 - 1
9-5066772-T-TAA c.1309_1310insAA p.L437* Nonsense 10/25 - 1
9-5066767-A-AT c.1310dup p.L437Ffs*12 Frameshift 10/25 - 1
9-5066767-AT-A c.1310del p.L437* Frameshift 10/25 - 3
9-5066773-T-C c.1310T>C p.L437S Missense 10/25 - 1
9-5066776-AC-A c.1313del p.T438Ifs*16 Frameshift 10/25 - 1
9-5066781-G-A c.1318G>A p.A440T Missense 10/25 - 1
9-5066782-C-A c.1319C>A p.A440D Missense 10/25 - 1
9-5066784-G-A c.1321G>A p.V441I Missense 10/25 - 1
9-5066786-C-A c.1323C>A p.V441= Synonymous 10/25 - 1
9-5066786-C-G c.1323C>G p.V441= Synonymous 10/25 - 1
9-5066786-C-T c.1323C>T p.V441= Synonymous 10/25 - 1
9-5066787-G-A c.1324G>A p.E442K Missense 10/25 - 8
9-5066787-G-C c.1324G>C p.E442Q Missense 10/25 - 4
9-5066787-G-T c.1324G>T p.E442* Nonsense 10/25 - 1
9-5066868-C-T c.1326+79C>T - IntronicSNV - 10/24 1
9-5066942-C-T c.1326+153C>T - IntronicSNV - 10/24 2
9-5067298-C-T c.1326+509C>T - IntronicSNV - 10/24 3
9-5067301-C-A c.1326+512C>A - IntronicSNV - 10/24 1
9-5067301-C-T c.1326+512C>T - IntronicSNV - 10/24 1
9-5068520-T-C c.1327-502T>C - IntronicSNV - 10/24 4
9-5068520-T-G c.1327-502T>G - IntronicSNV - 10/24 4
9-5068596-T-C c.1327-426T>C - IntronicSNV - 10/24 2
9-5068755-T-C c.1327-267T>C - IntronicSNV - 10/24 15
9-5068755-T-G c.1327-267T>G - IntronicSNV - 10/24 15
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 - 3
9-5069023-G-C c.1328G>C p.R443P Missense 11/25 - 1
9-5069023-G-T c.1328G>T p.R443L Missense 11/25 - 2
9-5069025-G-A c.1330G>A p.E444K Missense 11/25 - 2
9-5069025-G-T c.1330G>T p.E444* Nonsense 11/25 - 3
9-5069030-T-C c.1335T>C p.N445= Synonymous 11/25 - 1
9-5069031-GTC-ATG c.1336_1338delinsATG p.V446M Missense 11/25 - 1
9-5069032-T-TC c.1338dup p.I447Hfs*2 Frameshift 11/25 - 1
9-5069035-ATT-A c.1340_1341del p.I447Rfs*3 Frameshift 11/25 - 1
9-5069037-G-A c.1342G>A p.E448K Missense 11/25 - 2
9-5069041-A-G c.1346A>G p.Y449C Missense 11/25 - 1
9-5069041-A-T c.1346A>T p.Y449F Missense 11/25 - 1
9-5069045-A-C c.1350A>C p.K450N Missense 11/25 - 1
9-5069045-A-T c.1350A>T p.K450N Missense 11/25 - 1
9-5069047-A-C c.1352A>C p.H451P Missense 11/25 - 1
9-5069048-ACT-A c.1353_1354del p.H451Qfs*7 Frameshift 11/25 - 3
9-5069050-G-A c.1355G>A p.C452Y Missense 11/25 - 1
9-5069050-G-T c.1355G>T p.C452F Missense 11/25 - 5
9-5069052-T-C c.1357T>C p.L453= Synonymous 11/25 - 3
9-5069054-G-A c.1359G>A p.L453= Synonymous 11/25 - 3
9-5069055-A-C c.1360A>C p.I454L Missense 11/25 - 2
9-5069057-T-G c.1362T>G p.I454M Missense 11/25 - 1
9-5069058-A-C c.1363A>C p.T455P Missense 11/25 - 1
9-5069058-AC-GG c.1363_1364delinsGG p.T455G Missense 11/25 - 1
9-5069058-A-G c.1363A>G p.T455A Missense 11/25 - 1
9-5069058-A-T c.1363A>T p.T455S Missense 11/25 - 1
9-5069060-A-C c.1365A>C p.T455= Synonymous 11/25 - 1
9-5069060-A-G c.1365A>G p.T455= Synonymous 11/25 - 2
9-5069060-A-T c.1365A>T p.T455= Synonymous 11/25 - 1
9-5069059-CA-C c.1370del p.N457Mfs*22 Frameshift 11/25 - 2
9-5069059-C-CA c.1370dup p.N457Kfs*2 Frameshift 11/25 - 3
9-5069065-A-C c.1370A>C p.N457T Missense 11/25 - 1
9-5069067-G-T c.1372G>T p.E458* Nonsense 11/25 - 1
9-5069068-A-G c.1373A>G p.E458G Missense 11/25 - 1
9-5069069-G-A c.1374G>A p.E458= Synonymous 11/25 - 1
9-5069075-A-G c.1380A>G p.E460= Synonymous 11/25 - 1
9-5069076-G-A c.1381G>A p.E461K Missense 11/25 - 1
9-5069077-A-G c.1382A>G p.E461G Missense 11/25 - 1
9-5069077-A-T c.1382A>T p.E461V Missense 11/25 - 1
9-5069078-G-C c.1383G>C p.E461D Missense 11/25 - 1
9-5069078-G-T c.1383G>T p.E461D Missense 11/25 - 1
9-5069081-C-A c.1386C>A p.Y462* Nonsense 11/25 - 1
9-5069081-C-G c.1386C>G p.Y462* Nonsense 11/25 - 1
9-5069082-A-T c.1387A>T p.N463Y Missense 11/25 - 1
9-5069087-C-A c.1392C>A p.L464= Synonymous 11/25 - 1
9-5069087-C-G c.1392C>G p.L464= Synonymous 11/25 - 1
9-5069087-C-T c.1392C>T p.L464= Synonymous 11/25 - 1
9-5069088-AGT-TGA c.1393_1395delinsTGA p.S465* Nonsense 11/25 - 1
9-5069089-G-T c.1394G>T p.S465I Missense 11/25 - 1
9-5069091-G-A c.1396G>A p.G466R Missense 11/25 - 2
9-5069091-G-C c.1396G>C p.G466R Missense 11/25 - 1
9-5069091-G-T c.1396G>T p.G466W Missense 11/25 - 1
9-5069092-G-A c.1397G>A p.G466E Missense 11/25 - 1
9-5069092-G-C c.1397G>C p.G466A Missense 11/25 - 1
9-5069092-GG-AC c.1397_1398delinsAC p.G466D Missense 11/25 - 1
9-5069092-G-T c.1397G>T p.G466V Missense 11/25 - 1
9-5069095-C-T c.1400C>T p.T467I Missense 11/25 - 1
9-5069099-G-A c.1404G>A p.K468= Synonymous 11/25 - 2
9-5069099-G-C c.1404G>C p.K468N Missense 11/25 - 1
9-5069101-A-C c.1406A>C p.K469T Missense 11/25 - 1
9-5069101-A-G c.1406A>G p.K469R Missense 11/25 - 2
9-5069101-AG-TC c.1406_1407delinsTC p.K469I Missense 11/25 - 1
9-5069102-G-C c.1407G>C p.K469N Missense 11/25 - 1
9-5069102-G-T c.1407G>T p.K469N Missense 11/25 - 5
9-5069109-A-G c.1414A>G p.S472G Missense 11/25 - 1
9-5069109-AGC-TGA c.1414_1416delinsTGA p.S472* Nonsense 11/25 - 1
9-5069109-AG-TT c.1414_1415delinsTT p.S472F Missense 11/25 - 1
9-5069110-G-A c.1415G>A p.S472N Missense 11/25 - 1
9-5069110-G-T c.1415G>T p.S472I Missense 11/25 - 2
9-5069112-AG-GC c.1417_1418delinsGC p.S473A Missense 11/25 - 1
9-5069112-A-T c.1417A>T p.S473C Missense 11/25 - 1
9-5069113-G-A c.1418G>A p.S473N Missense 11/25 - 1
9-5069112-A-C c.1417A>C p.S473R Missense 11/25 - 1
9-5069115-C-G c.1420C>G p.L474V 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
9-5069121-G-T c.1426G>T p.D476Y Missense 11/25 - 1
9-5069124-C-T c.1429C>T p.L477F Missense 11/25 - 2
9-5069125-T-G c.1430T>G p.L477R Missense 11/25 - 1
9-5069128-T-C c.1433T>C p.L478S Missense 11/25 - 1
9-5069131-A-C c.1436A>C p.N479T Missense 11/25 - 1
9-5069133-TG-GA c.1438_1439delinsGA p.C480D Missense 11/25 - 1
9-5069134-G-T c.1439G>T p.C480F Missense 11/25 - 2
9-5069136-T-G c.1441T>G p.Y481D Missense 11/25 - 1
9-5069139-C-T c.1444C>T p.Q482* Nonsense 11/25 - 1
9-5069140-A-C c.1445A>C p.Q482P Missense 11/25 - 1
9-5069141-G-A c.1446G>A p.Q482= Synonymous 11/25 - 2
9-5069141-G-C c.1446G>C p.Q482H Missense 11/25 - 3
9-5069141-G-T c.1446G>T p.Q482H Missense 11/25 - 2
9-5069143-T-A c.1448T>A p.M483K Missense 11/25 - 1
9-5069143-T-G c.1448T>G p.M483R Missense 11/25 - 1
9-5069144-G-A c.1449G>A p.M483I Missense 11/25 - 3
9-5069144-G-C c.1449G>C p.M483I Missense 11/25 - 1
9-5069144-G-T c.1449G>T p.M483I Missense 11/25 - 1
9-5069145-G-A c.1450G>A p.E484K Missense 11/25 - 15
9-5069145-G-C c.1450G>C p.E484Q Missense 11/25 - 5
9-5069145-G-T c.1450G>T p.E484* Nonsense 11/25 - 1
9-5069146-A-C c.1451A>C p.E484A Missense 11/25 - 1
9-5069146-A-G c.1451A>G p.E484G Missense 11/25 - 2
9-5069149-CT-AG c.1454_1455inv p.T485K Missense 11/25 - 1
9-5069153-T-G c.1458T>G p.V486= Synonymous 11/25 - 2
9-5069154-C-A c.1459C>A p.R487S Missense 11/25 - 1
9-5069154-C-G c.1459C>G p.R487G Missense 11/25 - 1
9-5069154-CG-AC c.1459_1460delinsAC p.R487T Missense 11/25 - 1
9-5069154-C-T c.1459C>T p.R487C Missense 11/25 - 11
9-5069155-G-A c.1460G>A p.R487H Missense 11/25 - 3
9-5069158-C-A c.1463C>A p.S488* Nonsense 11/25 - 1
9-5069158-C-G c.1463C>G p.S488* Nonsense 11/25 - 2
9-5069158-C-T c.1463C>T p.S488L Missense 11/25 - 2
9-5069159-A-AT c.1464_1465insT p.D489* Nonsense 11/25 - 1
9-5069160-G-A c.1465G>A p.D489N Missense 11/25 - 1
9-5069161-A-C c.1466A>C p.D489A Missense 11/25 - 1
9-5069161-A-G c.1466A>G p.D489G Missense 11/25 - 2
9-5069162-C-A c.1467C>A p.D489E Missense 11/25 - 1
9-5069164-A-G c.1469A>G p.N490S Missense 11/25 - 2
9-5069167-T-A c.1472T>A p.I491K Missense 11/25 - 2
9-5069168-A-C c.1473A>C p.I491= Synonymous 11/25 - 1
9-5069168-A-T c.1473A>T p.I491= Synonymous 11/25 - 1
9-5069170-T-C c.1475T>C p.I492T Missense 11/25 - 1
9-5069174-C-T c.1479C>T p.F493= Synonymous 11/25 - 7
9-5069175-C-T c.1480C>T p.Q494* Nonsense 11/25 - 1
9-5069176-A-C c.1481A>C p.Q494P Missense 11/25 - 1
9-5069177-G-A c.1482G>A p.Q494= Synonymous 11/25 - 1
9-5069177-G-C c.1482G>C p.Q494H Missense 11/25 - 1
9-5069177-G-T c.1482G>T p.Q494H Missense 11/25 - 1
9-5069178-T-C c.1483T>C p.F495L Missense 11/25 - 2
9-5069181-A-G c.1486A>G p.T496A Missense 11/25 - 1
9-5069182-C-G c.1487C>G p.T496S Missense 11/25 - 1
9-5069182-CT-TG c.1487_1488delinsTG p.T496M Missense 11/25 - 1
9-5069186-A-G c.1491A>G p.K497= Synonymous 11/25 - 1
9-5069187-T-A c.1492T>A p.C498S Missense 11/25 - 1
9-5069188-G-C c.1493G>C p.C498S Missense 11/25 - 1
9-5069188-G-A c.1493G>A p.C498Y Missense 11/25 - 1
9-5069188-G-T c.1493G>T p.C498F Missense 11/25 - 1
9-5069195-C-A c.1500C>A p.P500= Synonymous 11/25 - 1
9-5069195-C-G c.1500C>G p.P500= Synonymous 11/25 - 1
9-5069195-C-T c.1500C>T p.P500= Synonymous 11/25 - 1
9-5069196-C-G c.1501C>G p.P501A Missense 11/25 - 1
9-5069196-C-T c.1501C>T p.P501S Missense 11/25 - 3
9-5069192-TC-T c.1502del p.P501Qfs*10 Frameshift 11/25 - 2
9-5069192-T-TC c.1502dup p.P503Afs*4 Frameshift 11/25 - 2
9-5069197-C-A c.1502C>A p.P501Q Missense 11/25 - 1
9-5069197-C-T c.1502C>T p.P501L Missense 11/25 - 1
9-5069202-C-A c.1507C>A p.P503T Missense 11/25 - 1
9-5069202-C-G c.1507C>G p.P503A Missense 11/25 - 2
9-5069203-C-T c.1508C>T p.P503L Missense 11/25 - 5
9-5069205-AA-GC c.1510_1511delinsGC p.K504A Missense 11/25 - 1
9-5069205-A-C c.1510A>C p.K504Q Missense 11/25 - 1
9-5069208-G-A c.1513G>A p.D505N Missense 11/25 - 1
9-5069266-G-A c.1513+58G>A - IntronicSNV - 11/24 1
9-5069522-C-T c.1513+314C>T - IntronicSNV - 11/24 1
9-5069837-G-A c.1514-88G>A - IntronicSNV - 11/24 11
9-5069925-GA-G c.1514del p.D505Vfs*6 Frameshift 12/25 - 1
9-5069927-AA-GC c.1516_1517delinsGC p.K506A Missense 12/25 - 1
9-5069927-A-T c.1516A>T p.K506* Nonsense 12/25 - 1
9-5069926-T-TA c.1518dup p.S507Ifs*13 Frameshift 12/25 - 1
9-5069929-A-G c.1518A>G p.K506= Synonymous 12/25 - 2
9-5069930-TC-GG c.1519_1520delinsGG p.S507G Missense 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 - 3
9-5069931-CA-AT c.1520_1521delinsAT p.S507Y Missense 12/25 - 1
9-5069931-C-G c.1520C>G p.S507* Nonsense 12/25 - 3
9-5069931-C-T c.1520C>T p.S507L Missense 12/25 - 1
9-5069933-A-G c.1522A>G p.N508D Missense 12/25 - 1
9-5069931-C-CA c.1523dup p.N508Kfs*12 Frameshift 12/25 - 1
9-5069934-A-G c.1523A>G p.N508S Missense 12/25 - 1
9-5069935-C-T c.1524C>T p.N508= Synonymous 12/25 - 1
9-5069936-C-G c.1525C>G p.L509V Missense 12/25 - 2
9-5069936-CT-GC c.1525_1526delinsGC p.L509A Missense 12/25 - 1
9-5069937-T-C c.1526T>C p.L509P Missense 12/25 - 1
9-5069935-CCTT-C c.1527_1529del p.L510del InFrameDeletion 12/25 - 1
9-5069936-CT-C c.1527del p.L510* Frameshift 12/25 - 1
9-5069938-T-A c.1527T>A p.L509= Synonymous 12/25 - 1
9-5069938-T-C c.1527T>C p.L509= Synonymous 12/25 - 1
9-5069938-T-G c.1527T>G p.L509= Synonymous 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 - 2
9-5069942-G-A c.1531G>A p.V511I Missense 12/25 - 1
9-5069942-G-T c.1531G>T p.V511F 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
9-5069947-C-CAACTTT c.1537_1538insACTTTA p.F512_R513insNF InFrameInsertion 12/25 - 1
9-5069948-AGA-CAT c.1537_1539delinsCAT p.R513H Missense 12/25 - 1
9-5069948-AGA-TGT c.1537_1539delinsTGT p.R513C Missense 12/25 - 2
9-5069948-AG-CA c.1537_1538delinsCA p.R513Q 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 - 2
9-5069951-A-G c.1540A>G p.T514A Missense 12/25 - 2
9-5069951-A-T c.1540A>T p.T514S Missense 12/25 - 1
9-5069952-C-T c.1541C>T p.T514M Missense 12/25 - 7
9-5069953-G-A c.1542G>A p.T514= Synonymous 12/25 - 6
9-5069953-G-C c.1542G>C p.T514= Synonymous 12/25 - 3
9-5069953-G-T c.1542G>T p.T514= Synonymous 12/25 - 3
9-5069954-AA-GC c.1543_1544delinsGC p.N515A Missense 12/25 - 1
9-5069955-A-C c.1544A>C p.N515T Missense 12/25 - 1
9-5069957-G-A c.1546G>A p.G516S 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
9-5069958-G-A c.1547G>A p.G516D Missense 12/25 - 1
9-5069959-T-A c.1548T>A p.G516= Synonymous 12/25 - 1
9-5069959-T-C c.1548T>C p.G516= Synonymous 12/25 - 1
9-5069959-T-G c.1548T>G p.G516= Synonymous 12/25 - 1
9-5069962-T-C c.1551T>C p.V517= Synonymous 12/25 - 1
9-5069963-TC-CT c.1552_1553delinsCT p.S518L Missense 12/25 - 1
9-5069964-C-G c.1553C>G p.S518C Missense 12/25 - 2
9-5069964-C-T c.1553C>T p.S518F Missense 12/25 - 1
9-5069965-T-A c.1554T>A p.S518= Synonymous 12/25 - 2
9-5069965-T-C c.1554T>C p.S518= Synonymous 12/25 - 2
9-5069965-T-G c.1554T>G p.S518= Synonymous 12/25 - 2
9-5069966-G-C c.1555G>C p.D519H Missense 12/25 - 1
9-5069966-G-GT c.1555_1556insT p.D519Vfs*25 Frameshift 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
9-5069967-A-G c.1556A>G p.D519G Missense 12/25 - 1
9-5069969-G-A c.1558G>A p.V520I Missense 12/25 - 3
9-5069969-G-T c.1558G>T p.V520L Missense 12/25 - 1
9-5069970-T-C c.1559T>C p.V520A Missense 12/25 - 1
9-5069971-A-C c.1560A>C p.V520= Synonymous 12/25 - 1
9-5069971-A-G c.1560A>G p.V520= Synonymous 12/25 - 1
9-5069971-A-T c.1560A>T p.V520= Synonymous 12/25 - 1
9-5069972-C-G c.1561C>G p.P521A Missense 12/25 - 1
9-5069973-C-A c.1562C>A p.P521Q Missense 12/25 - 1
9-5069973-C-T c.1562C>T p.P521L Missense 12/25 - 1
9-5069976-CC-AG c.1565_1566delinsAG p.T522K Missense 12/25 - 1
9-5069976-CC-GG c.1565_1566inv p.T522R Missense 12/25 - 1
9-5069976-C-T c.1565C>T p.T522I Missense 12/25 - 1
9-5069977-C-A c.1566C>A p.T522= Synonymous 12/25 - 2
9-5069977-C-G c.1566C>G p.T522= Synonymous 12/25 - 2
9-5069977-C-T c.1566C>T p.T522= Synonymous 12/25 - 2
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 - 6
9-5069981-CCA-ATCCTTAGC c.1570_1572delinsATCCTTAGC p.P524delinsILS MultiAAMissense 12/25 - 1
9-5069981-C-G c.1570C>G p.P524A Missense 12/25 - 1
9-5069981-C-T c.1570C>T p.P524S Missense 12/25 - 1
9-5069982-C-A c.1571C>A p.P524Q Missense 12/25 - 2
9-5069982-C-T c.1571C>T p.P524L Missense 12/25 - 4
9-5069984-A-G c.1573A>G p.T525A Missense 12/25 - 1
9-5069985-CA-TG c.1574_1575inv p.T525M Missense 12/25 - 1
9-5069985-C-T c.1574C>T p.T525I Missense 12/25 - 1
9-5069987-T-A c.1576T>A p.L526I Missense 12/25 - 2
9-5069988-T-A c.1577T>A p.L526* Nonsense 12/25 - 1
9-5069988-T-G c.1577T>G p.L526* Nonsense 12/25 - 1
9-5069990-CA-GC c.1579_1580delinsGC p.Q527A Missense 12/25 - 1
9-5069990-C-T c.1579C>T p.Q527* Nonsense 12/25 - 1
9-5069993-AG-GC c.1582_1583delinsGC p.R528A Missense 12/25 - 1
9-5069994-G-A c.1583G>A p.R528K Missense 12/25 - 1
9-5069994-G-T c.1583G>T p.R528M Missense 12/25 - 2
9-5069993-A-C c.1582A>C p.R528= Synonymous 12/25 - 2
9-5069995-G-A c.1584G>A p.R528= Synonymous 12/25 - 2
9-5069995-G-C c.1584G>C p.R528S Missense 12/25 - 1
9-5069995-G-T c.1584G>T p.R528S Missense 12/25 - 2
9-5069996-C-G c.1585C>G p.P529A Missense 12/25 - 1
9-5069996-C-T c.1585C>T p.P529S Missense 12/25 - 3
9-5069997-C-A c.1586C>A p.P529H Missense 12/25 - 2
9-5069997-C-T c.1586C>T p.P529L Missense 12/25 - 1
9-5069998-T-C c.1587T>C p.P529= Synonymous 12/25 - 1
9-5069999-A-T c.1588A>T p.T530S Missense 12/25 - 1
9-5070002-C-A c.1591C>A p.H531N Missense 12/25 - 1
9-5070002-C-T c.1591C>T p.H531Y Missense 12/25 - 1
9-5070003-A-G c.1592A>G p.H531R Missense 12/25 - 1
9-5070005-A-C c.1594A>C p.M532L Missense 12/25 - 1
9-5070005-A-G c.1594A>G p.M532V Missense 12/25 - 3
9-5070006-T-C c.1595T>C p.M532T Missense 12/25 - 1
9-5070007-G-A c.1596G>A p.M532I Missense 12/25 - 3
9-5070007-G-C c.1596G>C p.M532I Missense 12/25 - 2
9-5070007-G-T c.1596G>T p.M532I Missense 12/25 - 2
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 - 5
9-5070008-A-T c.1597A>T p.N533Y Missense 12/25 - 6
9-5070009-A-G c.1598A>G p.N533S Missense 12/25 - 2
9-5070010-C-A c.1599C>A p.N533K Missense 12/25 - 1
9-5070010-C-G c.1599C>G p.N533K Missense 12/25 - 1
9-5070010-C-T c.1599C>T p.N533= Synonymous 12/25 - 1
9-5070011-C-A c.1600C>A p.Q534K Missense 12/25 - 1
9-5070013-A-T c.1602A>T p.Q534H Missense 12/25 - 1
9-5070014-A-G c.1603A>G p.M535V Missense 12/25 - 1
9-5070014-AT-GC c.1603_1604delinsGC p.M535A Missense 12/25 - 1
9-5070014-ATG-TTT c.1603_1605delinsTTT p.M535F 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 - 7
9-5070016-G-C c.1605G>C p.M535I Missense 12/25 - 7
9-5070016-G-T c.1605G>T p.M535I Missense 12/25 - 8
9-5070018-T-A c.1607T>A p.V536E Missense 12/25 - 1
9-5070019-G-A c.1608G>A p.V536= Synonymous 12/25 - 2
9-5070019-G-C c.1608G>C p.V536= Synonymous 12/25 - 1
9-5070019-G-T c.1608G>T 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 - 4
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 - 2
9-5070022-T-G c.1611T>G p.F537L Missense 12/25 - 2
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 - 4
9-5070023-C-A c.1612C>A p.H538N Missense 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 - 3
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 - 2
9-5070024-A-G c.1613A>G p.H538R Missense 12/25 - 2
9-5070024-A-T c.1613A>T p.H538L Missense 12/25 - 2
9-5070023-CACA-C c.1614_1616del p.H538_K539delinsQ MultiAAMissense 12/25 - 1
9-5070025-C-A c.1614C>A p.H538Q Missense 12/25 - 12
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 - 12
9-5070026-AA-CT c.1615_1616delinsCT p.K539L Missense 12/25 - 79
9-5070026-A-G c.1615A>G p.K539E Missense 12/25 - 5
9-5070025-CAAA-C c.1616_1618del p.K539del InFrameDeletion 12/25 - 4
9-5070027-A-C c.1616A>C p.K539T Missense 12/25 - 2
9-5070027-A-T c.1616A>T p.K539I Missense 12/25 - 7
9-5070028-A-T c.1617A>T p.K539N Missense 12/25 - 1
9-5070025-CA-C c.1618del p.I540Sfs*6 Frameshift 12/25 - 2
9-5070029-A-G c.1618A>G p.I540V Missense 12/25 - 2
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-A c.1619T>A p.I540N Missense 12/25 - 2
9-5070030-T-C c.1619T>C p.I540T Missense 12/25 - 3
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
9-5070031-C-G c.1620C>G p.I540M Missense 12/25 - 1
9-5070032-A-C c.1621A>C p.R541= Synonymous 12/25 - 1
9-5070032-A-G c.1621A>G p.R541G Missense 12/25 - 2
9-5070032-AGA-TGG c.1621_1623delinsTGG p.R541W 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 - 1
9-5070033-G-T c.1622G>T p.R541I Missense 12/25 - 1
9-5070034-A-T c.1623A>T p.R541S Missense 12/25 - 1
9-5070033-GAAATGA-G c.1624_1629del p.N542_E543del InFrameDeletion 12/25 - 5
9-5070035-AA-GC c.1624_1625delinsGC p.N542A Missense 12/25 - 1
9-5070036-A-G c.1625A>G p.N542S Missense 12/25 - 1
9-5070035-AATGAAG-A c.1627_1632del p.E543_D544del InFrameDeletion 12/25 - 2
9-5070038-G-A c.1627G>A p.E543K Missense 12/25 - 3
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
9-5070038-G-C c.1627G>C p.E543Q Missense 12/25 - 1
9-5070038-G-T c.1627G>T p.E543* Nonsense 12/25 - 1
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
9-5070039-A-T c.1628A>T p.E543V Missense 12/25 - 1
9-5070037-TGAA-T c.1629_1631del p.E543del InFrameDeletion 12/25 - 35
9-5070040-A-C c.1629A>C p.E543D Missense 12/25 - 3
9-5070040-A-T c.1629A>T p.E543D Missense 12/25 - 4
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
9-5070042-A-G c.1631A>G p.D544G Missense 12/25 - 2
9-5070040-AGATTT-A c.1633_1637del p.L545Ifs*2 Frameshift 12/25 - 1
9-5070044-T-G c.1633T>G p.L545V Missense 12/25 - 3
9-5070044-TTG-CAT c.1633_1635delinsCAT p.L545H Missense 12/25 - 1
9-5070044-TTTG-T c.1633_1635del p.L545del InFrameDeletion 12/25 - 2
9-5070045-T-C c.1634T>C p.L545S Missense 12/25 - 1
9-5070045-TG-GT c.1634_1635delinsGT p.L545C Missense 12/25 - 1
9-5070047-A-G c.1636A>G p.I546V Missense 12/25 - 2
9-5070048-TA-GC c.1637_1638delinsGC p.I546S Missense 12/25 - 1
9-5070050-T-C c.1639T>C p.F547L Missense 12/25 - 10
9-5070050-T-G c.1639T>G p.F547V Missense 12/25 - 1
9-5070052-T-A c.1641T>A p.F547L Missense 12/25 - 10
9-5070052-T-G c.1641T>G p.F547L Missense 12/25 - 9
9-5070051-T-C c.1640T>C p.F547S Missense 12/25 - 1
9-5070051-T-G c.1640T>G p.F547C Missense 12/25 - 1
9-5070053-G-T c.1641+1G>T - IntronicSNV - 12/24 1
9-5070054-T-G c.1641+2T>G - IntronicSNV - 12/24 2
9-5070058-T-C c.1641+6T>C - IntronicSNV - 12/24 4
9-5070182-C-T c.1641+130C>T - IntronicSNV - 12/24 1
9-5070227-ATTATC-A c.1641+179_1641+183del - IntronicDeletion - 12/24 2
9-5070401-A-G c.1641+349A>G - IntronicSNV - 12/24 1
9-5070831-C-G c.1641+779C>G - IntronicSNV - 12/24 46
9-5071049-G-A c.1641+997G>A - IntronicSNV - 12/24 6
9-5071942-C-G c.1642-550C>G - IntronicSNV - 12/24 3
9-5072182-C-T c.1642-310C>T - IntronicSNV - 12/24 4
9-5072493-A-AT c.1644dup p.E549* Nonsense 13/25 - 1
9-5072495-G-A c.1645G>A p.E549K Missense 13/25 - 1
9-5072496-A-G c.1646A>G p.E549G Missense 13/25 - 1
9-5072487-T-TGAAGAATGAAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAA c.1647_1648insGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAAGAAGAATGAA p.S550Dfs*7 Frameshift 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
9-5072498-A-T c.1648A>T p.S550C Missense 13/25 - 1
9-5072499-G-A c.1649G>A p.S550N Missense 13/25 - 1
9-5072499-G-C c.1649G>C p.S550T Missense 13/25 - 1
9-5072501-CT-AG c.1651_1652inv p.L551S Missense 13/25 - 1
9-5072502-T-C c.1652T>C p.L551P Missense 13/25 - 1
9-5072504-G-C c.1654G>C p.G552R Missense 13/25 - 1
9-5072505-G-A c.1655G>A p.G552D Missense 13/25 - 1
9-5072505-G-C c.1655G>C p.G552A Missense 13/25 - 2
9-5072509-A-C c.1659A>C p.Q553H Missense 13/25 - 1
9-5072509-A-G c.1659A>G p.Q553= Synonymous 13/25 - 2
9-5072509-A-T c.1659A>T p.Q553H Missense 13/25 - 1
9-5072510-G-A c.1660G>A p.G554S Missense 13/25 - 1
9-5072511-G-A c.1661G>A p.G554D Missense 13/25 - 2
9-5072511-G-C c.1661G>C p.G554A Missense 13/25 - 1
9-5072511-G-GAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACAGCAGAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA c.1661_1662insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACAGCAGAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA p.T555Dfs*22 Frameshift 13/25 - 1
9-5072511-G-GAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACCACTGTATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA c.1661_1662insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACCACTGTATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA p.T555Dfs*22 Frameshift 13/25 - 1
9-5072511-G-GAGATCGGAAGAGCACACGTCTGAACTCCAGTCACATGCCTAAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA c.1661_1662insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACATGCCTAAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA p.T555Dfs*22 Frameshift 13/25 - 1
9-5072511-G-GAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCAAGACTAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA c.1661_1662insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCAAGACTAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA p.T555Dfs*14 Frameshift 13/25 - 1
9-5072511-G-GAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCCTCCTGAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAGGACCTCCAGGAGAGCTGCAGAGCACAGAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA c.1661_1662insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCCTCCTGAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAGGACCTCCAGGAGAGCTGCAGAGCACAGAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA p.T555Dfs*22 Frameshift 13/25 - 1
9-5072511-G-GAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCGCTGATCATCTCGTTTGCCGTCTTCTGCTTGGAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA c.1661_1662insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCGCTGATCATCTCGTTTGCCGTCTTCTGCTTGGAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA p.T555Dfs*13 Frameshift 13/25 - 1
9-5072516-T-C c.1666T>C p.F556L Missense 13/25 - 3
9-5072516-T-G c.1666T>G p.F556V Missense 13/25 - 13
9-5072518-T-A c.1668T>A p.F556L Missense 13/25 - 2
9-5072518-T-G c.1668T>G p.F556L Missense 13/25 - 2
9-5072517-T-A c.1667T>A p.F556Y Missense 13/25 - 1
9-5072514-CT-C c.1668del p.F556Lfs*12 Frameshift 13/25 - 2
9-5072519-ACA-TGT c.1669_1671inv p.T557C Missense 13/25 - 1
9-5072519-A-T c.1669A>T p.T557S Missense 13/25 - 1
9-5072521-A-AGTAACTAATATCCTGATTATTTGCTGT c.1671_1672insGTAACTAATATCCTGATTATTTGCTGT p.T557_K558insVTNILIICC InFrameInsertion 13/25 - 1
9-5072522-A-G c.1672A>G p.K558E Missense 13/25 - 1
9-5072520-C-CA c.1673dup p.I559Dfs*3 Frameshift 13/25 - 1
9-5072523-A-C c.1673A>C p.K558T Missense 13/25 - 1
9-5072523-A-G c.1673A>G p.K558R Missense 13/25 - 1
9-5072524-G-A c.1674G>A p.K558= Synonymous 13/25 - 1
9-5072524-G-C c.1674G>C p.K558N Missense 13/25 - 1
9-5072525-A-C c.1675A>C p.I559L Missense 13/25 - 2
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
9-5072527-T-G c.1677T>G p.I559M Missense 13/25 - 1
9-5072529-T-C c.1679T>C p.F560S Missense 13/25 - 1
9-5072525-A-AT c.1680dup p.K561* Nonsense 13/25 - 1
9-5072530-T-G c.1680T>G p.F560L Missense 13/25 - 1
9-5072534-G-C c.1684G>C p.G562R Missense 13/25 - 1
9-5072535-G-A c.1685G>A p.G562D Missense 13/25 - 1
9-5072536-C-A c.1686C>A p.G562= Synonymous 13/25 - 1
9-5072536-C-CTTTTTGTTCAAGCAGAAGACGGCATACGAGATTCCTCAATGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTAAAAGTT c.1686_1687insTTTTTGTTCAAGCAGAAGACGGCATACGAGATTCCTCAATGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTAAAAGTT p.G562_V563insFLFKQKTAYEIPQCDWSSDVCSSDLKV InFrameInsertion 13/25 - 1
9-5072536-C-G c.1686C>G p.G562= Synonymous 13/25 - 1
9-5072536-C-T c.1686C>T p.G562= Synonymous 13/25 - 3
9-5072537-G-A c.1687G>A p.V563I Missense 13/25 - 6
9-5072531-A-AAAGGCGTACTTTTTTTCAAGCAGAAGACGGCATACGAGATGACGGATTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCT c.1690_1691insTTTTTTTCAAGCAGAAGACGGCATACGAGATGACGGATTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTAAGGCGTAC p.R564Lfs*39 Frameshift 13/25 - 1
9-5072540-C-G c.1690C>G p.R564G Missense 13/25 - 3
9-5072540-C-T c.1690C>T p.R564* Nonsense 13/25 - 4
9-5072541-G-A c.1691G>A p.R564Q Missense 13/25 - 33
9-5072541-G-T c.1691G>T p.R564L Missense 13/25 - 11
9-5072543-AGA-TGG c.1693_1695delinsTGG p.R565W Missense 13/25 - 2
9-5072543-AG-CA c.1693_1694delinsCA p.R565Q Missense 13/25 - 1
9-5072543-AG-GC c.1693_1694delinsGC p.R565A Missense 13/25 - 1
9-5072543-A-T c.1693A>T p.R565* Nonsense 13/25 - 3
9-5072544-G-T c.1694G>T p.R565I Missense 13/25 - 1
9-5072546-G-A c.1696G>A p.E566K Missense 13/25 - 1
9-5072546-GA-TC c.1696_1697inv p.E566S Missense 13/25 - 1
9-5072546-G-T c.1696G>T p.E566* Nonsense 13/25 - 1
9-5072548-A-C c.1698A>C p.E566D Missense 13/25 - 1
9-5072548-A-T c.1698A>T p.E566D Missense 13/25 - 2
9-5072549-G-C c.1699G>C p.V567L Missense 13/25 - 2
9-5072549-G-T c.1699G>T p.V567L Missense 13/25 - 3
9-5072547-AAGT-A c.1700_1702del p.V567del InFrameDeletion 13/25 - 1
9-5072550-T-A c.1700T>A p.V567E Missense 13/25 - 2
9-5072550-T-C c.1700T>C p.V567A Missense 13/25 - 7
9-5072555-G-A c.1705G>A p.D569N Missense 13/25 - 1
9-5072555-G-T c.1705G>T p.D569Y Missense 13/25 - 2
9-5072556-A-C c.1706A>C p.D569A Missense 13/25 - 1
9-5072556-A-G c.1706A>G p.D569G 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-G c.1708T>G p.Y570D Missense 13/25 - 2
9-5072559-A-G c.1709A>G p.Y570C Missense 13/25 - 1
9-5072559-A-T c.1709A>T p.Y570F Missense 13/25 - 9
9-5072560-C-T c.1710C>T p.Y570= Synonymous 13/25 - 2
9-5072561-G-A c.1711G>A p.G571S Missense 13/25 - 38
9-5072561-G-C c.1711G>C p.G571R Missense 13/25 - 5
9-5072561-G-T c.1711G>T p.G571C Missense 13/25 - 1
9-5072562-G-A c.1712G>A p.G571D Missense 13/25 - 2
9-5072564-C-T c.1714C>T p.Q572* Nonsense 13/25 - 1
9-5072566-A-C c.1716A>C p.Q572H Missense 13/25 - 1
9-5072566-A-T c.1716A>T p.Q572H Missense 13/25 - 1
9-5072567-C-A c.1717C>A p.L573M Missense 13/25 - 1
9-5072568-T-TAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACAGCAGAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA c.1718_1719insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACAGCAGAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA p.H574Dfs*22 Frameshift 13/25 - 1
9-5072568-T-TAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACCACTGTATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA c.1718_1719insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACCACTGTATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA p.H574Dfs*22 Frameshift 13/25 - 1
9-5072568-T-TAGATCGGAAGAGCACACGTCTGAACTCCAGTCACATGCCTAAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA c.1718_1719insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACATGCCTAAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA p.H574Dfs*22 Frameshift 13/25 - 1
9-5072568-T-TAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCAAGACTAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA c.1718_1719insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCAAGACTAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA p.H574Dfs*14 Frameshift 13/25 - 1
9-5072568-T-TAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCCTCCTGAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAGGACCTCCAGGAGAGCTGCAGAGCACAGAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA c.1718_1719insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCCTCCTGAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAGGACCTCCAGGAGAGCTGCAGAGCACAGAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA p.H574Dfs*22 Frameshift 13/25 - 1
9-5072568-T-TAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCGCTGATCATCTCGTTTGCCGTCTTCTGCTTGGAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA c.1718_1719insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCGCTGATCATCTCGTTTGCCGTCTTCTGCTTGGAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA p.H574Dfs*13 Frameshift 13/25 - 1
9-5072570-C-A c.1720C>A p.H574N Missense 13/25 - 1
9-5072571-A-G c.1721A>G p.H574R Missense 13/25 - 5
9-5072572-T-C c.1722T>C p.H574= Synonymous 13/25 - 1
9-5072573-G-A c.1723G>A p.E575K Missense 13/25 - 2
9-5072576-A-G c.1726A>G p.T576A Missense 13/25 - 1
9-5072578-A-C c.1728A>C p.T576= Synonymous 13/25 - 1
9-5072578-A-G c.1728A>G p.T576= Synonymous 13/25 - 1
9-5072578-A-T c.1728A>T p.T576= Synonymous 13/25 - 1
9-5072577-CAG-C c.1729_1730del p.E577Sfs*8 Frameshift 13/25 - 7
9-5072579-G-A c.1729G>A p.E577K Missense 13/25 - 4
9-5072579-G-C c.1729G>C p.E577Q Missense 13/25 - 1
9-5072582-AGTT-A c.1732_1734del p.V578del InFrameDeletion 13/25 - 1
9-5072583-T-C c.1733T>C p.V578A Missense 13/25 - 1
9-5072585-C-A c.1735C>A p.L579I Missense 13/25 - 1
9-5072585-C-T c.1735C>T p.L579F Missense 13/25 - 9
9-5072586-T-C c.1736T>C p.L579P Missense 13/25 - 5
9-5072588-T-C c.1738T>C p.L580= Synonymous 13/25 - 1
9-5072588-T-G c.1738T>G p.L580V Missense 13/25 - 1
9-5072588-TTA-ATG c.1738_1740delinsATG p.L580M Missense 13/25 - 1
9-5072591-AA-GC c.1741_1742delinsGC p.K581A Missense 13/25 - 7
9-5072592-A-C c.1742A>C p.K581T Missense 13/25 - 1
9-5072592-A-G c.1742A>G p.K581R Missense 13/25 - 5
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
9-5072599-G-T c.1749G>T p.L583= Synonymous 13/25 - 2
9-5072600-G-A c.1750G>A p.D584N Missense 13/25 - 2
9-5072602-T-A c.1752T>A p.D584E Missense 13/25 - 4
9-5072602-T-G c.1752T>G p.D584E Missense 13/25 - 2
9-5072606-G-A c.1756G>A p.A586T Missense 13/25 - 3
9-5072606-G-C c.1756G>C p.A586P Missense 13/25 - 2
9-5072607-C-G c.1757C>G p.A586G Missense 13/25 - 1
9-5072607-C-T c.1757C>T p.A586V Missense 13/25 - 1
9-5072609-C-A c.1759C>A p.H587N Missense 13/25 - 11
9-5072609-C-T c.1759C>T p.H587Y Missense 13/25 - 1
9-5072610-A-G c.1760A>G p.H587R Missense 13/25 - 1
9-5072612-AGA-CAT c.1762_1764delinsCAT p.R588H 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 - 7
9-5072613-GA-TG c.1763_1764delinsTG p.R588M Missense 13/25 - 2
9-5072613-G-T c.1763G>T p.R588I Missense 13/25 - 5
9-5072615-AA-GC c.1765_1766delinsGC p.N589A Missense 13/25 - 1
9-5072615-AA-TG c.1765_1766delinsTG p.N589C Missense 13/25 - 1
9-5072617-C-A c.1767C>A p.N589K Missense 13/25 - 1
9-5072618-T-A c.1768T>A p.Y590N 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
9-5072618-T-C c.1768T>C p.Y590H Missense 13/25 - 1
9-5072619-A-C c.1769A>C p.Y590S Missense 13/25 - 1
9-5072619-A-T c.1769A>T p.Y590F Missense 13/25 - 3
9-5072620-T-A c.1770T>A p.Y590* Nonsense 13/25 - 1
9-5072621-T-G c.1771T>G p.S591A Missense 13/25 - 1
9-5072622-CA-AT c.1772_1773delinsAT p.S591Y Missense 13/25 - 1
9-5072622-C-T c.1772C>T p.S591L Missense 13/25 - 9
9-5072624-G-A c.1774G>A p.E592K Missense 13/25 - 9
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 - 2
9-5072624-G-C c.1774G>C p.E592Q Missense 13/25 - 2
9-5072625-A-C c.1775A>C p.E592A Missense 13/25 - 2
9-5072626-G-C c.1776G>C p.E592D Missense 13/25 - 1
9-5072627-G-T c.1776+1G>T - IntronicSNV - 13/24 1
9-5072626-GGT-G c.1776+5_1776+6del - SpliceDonorDeletion - 13/24 3
9-5072672-G-A c.1776+46G>A - IntronicSNV - 13/24 1
9-5072798-T-C c.1776+172T>C - IntronicSNV - 13/24 11
9-5072840-GCATTATGTTAGGAGTGTTATTACATTTCTGCATATACTGTGGCCTTGATTTTCAAACTT-G c.1776+214_1776+272del - Unclassified - 13/24 1
9-5072846-G-A c.1776+220G>A - IntronicSNV - 13/24 13
9-5073138-G-T c.1776+512G>T - IntronicSNV - 13/24 1
9-5073289-G-A c.1777-409G>A - IntronicSNV - 13/24 2
9-5073289-G-T c.1777-409G>T - IntronicSNV - 13/24 2
9-5073691-T-G c.1777-7T>G - IntronicSNV - 13/24 1
9-5073699-C-T c.1778C>T p.S593F Missense 14/25 - 2
9-5073699-CTT-C c.1780_1781del p.F594Lfs*2 Frameshift 14/25 - 1
9-5073701-TT-GC c.1780_1781delinsGC p.F594A Missense 14/25 - 2
9-5073699-C-CT c.1781dup p.F595Lfs*2 Frameshift 14/25 - 1
9-5073699-CT-C c.1781del p.F594Sfs*7 Frameshift 14/25 - 1
9-5073699-CTTTCT-C c.1781_1785del p.F594* Frameshift 14/25 - 1
9-5073702-T-G c.1781T>G p.F594C Missense 14/25 - 1
9-5073703-C-A c.1782C>A p.F594L Missense 14/25 - 1
9-5073703-C-T c.1782C>T p.F594= Synonymous 14/25 - 1
9-5073704-T-A c.1783T>A p.F595I Missense 14/25 - 1
9-5073704-T-C c.1783T>C p.F595L Missense 14/25 - 2
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
9-5073706-T-A c.1785T>A p.F595L Missense 14/25 - 2
9-5073706-T-G c.1785T>G p.F595L Missense 14/25 - 2
9-5073705-T-A c.1784T>A p.F595Y Missense 14/25 - 1
9-5073705-T-C c.1784T>C p.F595S 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
9-5073703-C-CT c.1785dup p.E596* Nonsense 14/25 - 1
9-5073703-CT-C c.1785del p.F595Lfs*6 Frameshift 14/25 - 1
9-5073707-G-A c.1786G>A p.E596K Missense 14/25 - 4
9-5073707-GA-AG c.1786_1787delinsAG p.E596R Missense 14/25 - 5
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 - 2
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
9-5073710-G-A c.1789G>A p.A597T Missense 14/25 - 1
9-5073710-G-AAGA c.1789delinsAAGA p.A597delinsKT MultiAAMissense 14/25 - 1
9-5073710-G-C c.1789G>C p.A597P Missense 14/25 - 2
9-5073710-G-T c.1789G>T p.A597S Missense 14/25 - 1
9-5073711-C-T c.1790C>T p.A597V Missense 14/25 - 1
9-5073713-G-A c.1792G>A p.A598T Missense 14/25 - 1
9-5073713-G-C c.1792G>C p.A598P Missense 14/25 - 1
9-5073713-G-GT c.1792_1793insT p.A598Vfs*45 Frameshift 14/25 - 1
9-5073713-G-T c.1792G>T p.A598S Missense 14/25 - 1
9-5073714-C-A c.1793C>A p.A598E Missense 14/25 - 1
9-5073715-A-C c.1794A>C p.A598= Synonymous 14/25 - 1
9-5073715-A-G c.1794A>G p.A598= Synonymous 14/25 - 1
9-5073715-A-T c.1794A>T p.A598= Synonymous 14/25 - 1
9-5073717-G-A c.1796G>A p.S599N Missense 14/25 - 1
9-5073717-G-T c.1796G>T p.S599I Missense 14/25 - 6
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 - 2
9-5073718-T-C c.1797T>C p.S599= Synonymous 14/25 - 1
9-5073718-T-G c.1797T>G p.S599R Missense 14/25 - 2
9-5073719-A-C c.1798A>C p.M600L Missense 14/25 - 2
9-5073719-A-G c.1798A>G p.M600V Missense 14/25 - 1
9-5073719-A-T c.1798A>T p.M600L Missense 14/25 - 1
9-5073720-T-G c.1799T>G p.M600R Missense 14/25 - 1
9-5073722-A-T c.1801A>T p.M601L Missense 14/25 - 1
9-5073726-G-T c.1805G>T p.S602I Missense 14/25 - 1
9-5073727-C-A c.1806C>A p.S602R Missense 14/25 - 1
9-5073727-C-T c.1806C>T p.S602= Synonymous 14/25 - 1
9-5073728-A-C c.1807A>C p.K603Q Missense 14/25 - 3
9-5073728-A-T c.1807A>T p.K603* Nonsense 14/25 - 1
9-5073730-G-A c.1809G>A p.K603= Synonymous 14/25 - 1
9-5073730-G-C c.1809G>C p.K603N Missense 14/25 - 1
9-5073731-C-A c.1810C>A p.L604I Missense 14/25 - 2
9-5073732-T-A c.1811T>A p.L604H Missense 14/25 - 1
9-5073732-T-C c.1811T>C p.L604P Missense 14/25 - 3
9-5073731-CT-C c.1813del p.S605Lfs*7 Frameshift 14/25 - 1
9-5073734-TC-CG c.1813_1814delinsCG p.S605R 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 - 2
9-5073735-C-T c.1814C>T p.S605F Missense 14/25 - 2
9-5073737-C-A c.1816C>A p.H606N Missense 14/25 - 1
9-5073737-C-T c.1816C>T p.H606Y Missense 14/25 - 3
9-5073739-C-A c.1818C>A p.H606Q Missense 14/25 - 10
9-5073739-C-G c.1818C>G p.H606Q Missense 14/25 - 7
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 - 3
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 - 20
9-5073742-G-GT c.1821_1822insT p.H608Sfs*35 Frameshift 14/25 - 1
9-5073742-G-T c.1821G>T p.K607N Missense 14/25 - 11
9-5073743-C-A c.1822C>A p.H608N Missense 14/25 - 10
9-5073743-C-G c.1822C>G p.H608D Missense 14/25 - 1
9-5073743-C-T c.1822C>T p.H608Y Missense 14/25 - 4
9-5073744-A-C c.1823A>C p.H608P Missense 14/25 - 1
9-5073744-A-G c.1823A>G p.H608R Missense 14/25 - 1
9-5073745-T-A c.1824T>A p.H608Q Missense 14/25 - 1
9-5073744-AT-A c.1826del p.L609Wfs*3 Frameshift 14/25 - 1
9-5073747-T-C c.1826T>C p.L609S Missense 14/25 - 4
9-5073748-G-T c.1827G>T p.L609F Missense 14/25 - 1
9-5073749-G-A c.1828G>A p.V610I Missense 14/25 - 1
9-5073749-G-C c.1828G>C p.V610L Missense 14/25 - 1
9-5073749-G-T c.1828G>T p.V610F Missense 14/25 - 1
9-5073750-T-G c.1829T>G p.V610G Missense 14/25 - 1
9-5073752-T-A c.1831T>A p.L611I Missense 14/25 - 1
9-5073752-T-G c.1831T>G p.L611V Missense 14/25 - 15
9-5073749-G-GT c.1832dup p.L611Ffs*32 Frameshift 14/25 - 1
9-5073749-GT-G c.1832del p.L611* Frameshift 14/25 - 2
9-5073753-T-C c.1832T>C p.L611S Missense 14/25 - 36
9-5073755-A-T c.1834A>T p.N612Y Missense 14/25 - 1
9-5073753-TA-T c.1835del p.N612Ifs*18 Frameshift 14/25 - 1
9-5073756-A-G c.1835A>G p.N612S Missense 14/25 - 1
9-5073756-A-AT c.1837dup p.Y613Lfs*30 Frameshift 14/25 - 1
9-5073758-TAT-GAG c.1837_1839delinsGAG p.Y613E Missense 14/25 - 4
9-5073759-A-G c.1838A>G p.Y613C Missense 14/25 - 4
9-5073759-A-T c.1838A>T p.Y613F Missense 14/25 - 5
9-5073760-T-C c.1839T>C p.Y613= Synonymous 14/25 - 1
9-5073761-G-T c.1840G>T p.G614* Nonsense 14/25 - 1
9-5073762-G-T c.1841G>T p.G614V Missense 14/25 - 4
9-5073763-A-AT c.1842_1843insT p.V615Cfs*28 Frameshift 14/25 - 1
9-5073764-G-A c.1843G>A p.V615I Missense 14/25 - 1
9-5073764-G-C c.1843G>C p.V615L Missense 14/25 - 6
9-5073764-G-T c.1843G>T p.V615L Missense 14/25 - 7
9-5073764-GTA-TTT c.1843_1845delinsTTT p.V615F Missense 14/25 - 1
9-5073768-G-A c.1847G>A p.C616Y Missense 14/25 - 8
9-5073768-G-T c.1847G>T p.C616F Missense 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 - 61
9-5073770-G-C c.1849G>C p.V617L Missense 14/25 - 5
9-5073770-G-T c.1849G>T p.V617F Missense 14/25 - 3720
9-5073770-GT-AC c.1849_1850inv p.V617T Missense 14/25 - 1
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 - 2
9-5073771-T-C c.1850T>C p.V617A Missense 14/25 - 4
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 - 15
9-5073772-C-G c.1851C>G p.V617= Synonymous 14/25 - 14
9-5073772-C-T c.1851C>T p.V617= Synonymous 14/25 - 14
9-5073773-T-C c.1852T>C p.C618R Missense 14/25 - 18
9-5073773-TG-CT c.1852_1853delinsCT p.C618L Missense 14/25 - 1
9-5073773-TGT-GGTGTA c.1852_1854delinsGGTGTA p.C618delinsGV MultiAAMissense 14/25 - 1
9-5073774-G-A c.1853G>A p.C618Y Missense 14/25 - 3
9-5073774-G-T c.1853G>T p.C618F Missense 14/25 - 3
9-5073776-G-A c.1855G>A p.G619R Missense 14/25 - 1
9-5073776-G-C c.1855G>C p.G619R Missense 14/25 - 1
9-5073776-G-T c.1855G>T p.G619* Nonsense 14/25 - 2
9-5073777-G-A c.1856G>A p.G619E Missense 14/25 - 1
9-5073777-G-C c.1856G>C p.G619A Missense 14/25 - 1
9-5073780-A-G c.1859A>G p.D620G Missense 14/25 - 1
9-5073781-AC-A c.1860del p.D620Efs*10 Frameshift 14/25 - 1
9-5073781-C-A c.1860C>A p.D620E Missense 14/25 - 19
9-5073781-C-G c.1860C>G p.D620E Missense 14/25 - 9
9-5073782-G-A c.1861G>A p.E621K Missense 14/25 - 9
9-5073782-G-T c.1861G>T p.E621* Nonsense 14/25 - 2
9-5073784-G-C c.1863G>C p.E621D Missense 14/25 - 2
9-5073784-G-T c.1863G>T p.E621D Missense 14/25 - 3
9-5073790-G-A c.1864+5G>A - IntronicSNV - 14/24 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
9-5073982-T-A c.1864+197T>A - IntronicSNV - 14/24 1
9-5074189-T-C c.1864+404T>C - IntronicSNV - 14/24 40
9-5074225-T-G c.1864+440T>G - IntronicSNV - 14/24 1
9-5074326-T-A c.1864+541T>A - IntronicSNV - 14/24 1
9-5075025-C-A c.1864+1240C>A - IntronicSNV - 14/24 1
9-5075115-G-A c.1864+1330G>A - IntronicSNV - 14/24 1
9-5075255-C-G c.1864+1470C>G - IntronicSNV - 14/24 1
9-5075255-C-T c.1864+1470C>T - IntronicSNV - 14/24 1
9-5075370-C-G c.1864+1585C>G - IntronicSNV - 14/24 1
9-5075603-C-T c.1864+1818C>T - IntronicSNV - 14/24 2
9-5075628-C-G c.1865-1825C>G - IntronicSNV - 14/24 3
9-5076399-T-C c.1865-1054T>C - IntronicSNV - 14/24 2
9-5076399-T-G c.1865-1054T>G - IntronicSNV - 14/24 2
9-5076613-G-C c.1865-840G>C - IntronicSNV - 14/24 5
9-5076690-C-A c.1865-763C>A - IntronicSNV - 14/24 1
9-5076690-C-T c.1865-763C>T - IntronicSNV - 14/24 1
9-5076691-C-A c.1865-762C>A - IntronicSNV - 14/24 19
9-5076691-C-G c.1865-762C>G - IntronicSNV - 14/24 19
9-5076946-A-T c.1865-507A>T - IntronicSNV - 14/24 2
9-5076970-C-T c.1865-483C>T - IntronicSNV - 14/24 1
9-5077174-G-GT c.1865-278dup - IntronicInsertion - 14/24 1
9-5077354-T-A c.1865-99T>A - IntronicSNV - 14/24 1
9-5077453-A-C c.1865A>C p.N622T Missense 15/25 - 1
9-5077453-A-T c.1865A>T p.N622I Missense 15/25 - 6
9-5077454-T-C c.1866T>C p.N622= Synonymous 15/25 - 1
9-5077456-T-C c.1868T>C p.I623T Missense 15/25 - 1
9-5077459-T-A c.1871T>A p.L624Q Missense 15/25 - 1
9-5077459-T-C c.1871T>C p.L624P Missense 15/25 - 5
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 - 15
9-5077466-G-A c.1878G>A p.Q626= Synonymous 15/25 - 1
9-5077467-G-A c.1879G>A p.E627K Missense 15/25 - 3
9-5077468-A-C c.1880A>C p.E627A Missense 15/25 - 3
9-5077468-A-G c.1880A>G p.E627G Missense 15/25 - 1
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 - 5
9-5077469-G-C c.1881G>C p.E627D Missense 15/25 - 1
9-5077469-G-T c.1881G>T p.E627D Missense 15/25 - 2
9-5077470-T-C c.1882T>C p.F628L Missense 15/25 - 1
9-5077472-T-A c.1884T>A p.F628L Missense 15/25 - 1
9-5077472-T-G c.1884T>G p.F628L Missense 15/25 - 1
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-T-C c.1891T>C p.F631L Missense 15/25 - 1
9-5077479-TT-GG c.1891_1892delinsGG p.F631G Missense 15/25 - 1
9-5077481-T-A c.1893T>A p.F631L Missense 15/25 - 1
9-5077481-T-G c.1893T>G p.F631L Missense 15/25 - 1
9-5077482-G-A c.1894G>A p.G632R Missense 15/25 - 2
9-5077483-G-A c.1895G>A p.G632E Missense 15/25 - 1
9-5077484-A-C c.1896A>C p.G632= Synonymous 15/25 - 1
9-5077485-T-A c.1897T>A p.S633T Missense 15/25 - 1
9-5077485-T-G c.1897T>G p.S633A Missense 15/25 - 2
9-5077486-C-T c.1898C>T p.S633L Missense 15/25 - 1
9-5077486-CACTAGATACATATCTGAAAAAGA-C c.1900_1922del p.L634* Frameshift 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 - 3
9-5077490-A-G c.1902A>G p.L634= Synonymous 15/25 - 1
9-5077491-G-A c.1903G>A p.D635N Missense 15/25 - 1
9-5077491-G-T c.1903G>T p.D635Y Missense 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
9-5077499-T-C c.1911T>C p.Y637= Synonymous 15/25 - 1
9-5077500-C-A c.1912C>A p.L638M Missense 15/25 - 1
9-5077500-C-T c.1912C>T p.L638= Synonymous 15/25 - 2
9-5077501-T-C c.1913T>C p.L638P Missense 15/25 - 1
9-5077505-A-G c.1917A>G p.K639= Synonymous 15/25 - 1
9-5077502-GA-G c.1919del p.K640Rfs*6 Frameshift 15/25 - 1
9-5077508-G-A c.1920G>A p.K640= Synonymous 15/25 - 1
9-5077508-G-C c.1920G>C p.K640N Missense 15/25 - 4
9-5077508-G-T c.1920G>T p.K640N Missense 15/25 - 3
9-5077509-A-C c.1921A>C p.N641H Missense 15/25 - 1
9-5077511-AT-A c.1923del p.N641Kfs*5 Frameshift 15/25 - 1
9-5077511-T-C c.1923T>C p.N641= Synonymous 15/25 - 1
9-5077512-A-C c.1924A>C p.K642Q Missense 15/25 - 1
9-5077512-A-G c.1924A>G p.K642E Missense 15/25 - 1
9-5077513-A-C c.1925A>C p.K642T Missense 15/25 - 1
9-5077514-A-C c.1926A>C p.K642N Missense 15/25 - 1
9-5077514-A-G c.1926A>G p.K642= Synonymous 15/25 - 1
9-5077514-A-T c.1926A>T p.K642N Missense 15/25 - 1
9-5077515-A-C c.1927A>C p.N643H Missense 15/25 - 1
9-5077511-T-TA c.1928dup p.N643Kfs*10 Frameshift 15/25 - 1
9-5077517-T-C c.1929T>C p.N643= Synonymous 15/25 - 4
9-5077518-T-A c.1930T>A p.C644S Missense 15/25 - 1
9-5077521-A-G c.1933A>G p.I645V Missense 15/25 - 4
9-5077520-TATAAATATATTATGGAAACTTGAAGTTGCTAAACAGTTGGCATGGGCC-T c.1935_1982del p.I645_A660del InFrameDeletion 15/25 - 1
9-5077523-A-AT c.1935_1936insT p.N646* Nonsense 15/25 - 2
9-5077524-A-C c.1936A>C p.N646H Missense 15/25 - 2
9-5077524-A-G c.1936A>G p.N646D Missense 15/25 - 1
9-5077522-TA-T c.1937del p.N646Ifs*19 Frameshift 15/25 - 2
9-5077525-A-G c.1937A>G p.N646S Missense 15/25 - 1
9-5077525-A-T c.1937A>T p.N646I Missense 15/25 - 1
9-5077528-T-C c.1940T>C p.I647T Missense 15/25 - 1
9-5077524-AAT-A c.1941_1942del p.L648Mfs*4 Frameshift 15/25 - 1
9-5077529-A-G c.1941A>G p.I647M Missense 15/25 - 2
9-5077530-TT-CC c.1942_1943delinsCC p.L648P Missense 15/25 - 1
9-5077531-T-C c.1943T>C p.L648S Missense 15/25 - 1
9-5077535-G-A c.1947G>A p.W649* Nonsense 15/25 - 4
9-5077536-A-C c.1948A>C p.K650Q Missense 15/25 - 2
9-5077536-A-G c.1948A>G p.K650E Missense 15/25 - 4
9-5077536-A-T c.1948A>T p.K650* Nonsense 15/25 - 3
9-5077537-AA-TG c.1949_1950delinsTG p.K650M Missense 15/25 - 2
9-5077537-A-C c.1949A>C p.K650T Missense 15/25 - 2
9-5077539-C-T c.1951C>T p.L651F Missense 15/25 - 2
9-5077540-CTTG-C c.1952_1954del p.L651_E652delinsQ MultiAAMissense 15/25 - 1
9-5077540-T-G c.1952T>G p.L651R Missense 15/25 - 1
9-5077543-A-G c.1955A>G p.E652G Missense 15/25 - 1
9-5077544-A-G c.1956A>G p.E652= Synonymous 15/25 - 1
9-5077545-G-A c.1957G>A p.V653I Missense 15/25 - 1
9-5077546-T-G c.1958T>G p.V653G Missense 15/25 - 1
9-5077547-T-G c.1959T>G p.V653= Synonymous 15/25 - 1
9-5077551-A-T c.1963A>T p.K655* Nonsense 15/25 - 1
9-5077552-AA-TG c.1964_1965delinsTG p.K655M Missense 15/25 - 1
9-5077554-C-A c.1966C>A p.Q656K Missense 15/25 - 1
9-5077554-C-T c.1966C>T p.Q656* Nonsense 15/25 - 1
9-5077557-T-C c.1969T>C p.L657= Synonymous 15/25 - 1
9-5077559-G-A c.1971G>A p.L657= Synonymous 15/25 - 1
9-5077558-T-C c.1970T>C p.L657S Missense 15/25 - 1
9-5077560-G-A c.1972G>A p.A658T Missense 15/25 - 2
9-5077560-G-T c.1972G>T p.A658S Missense 15/25 - 2
9-5077563-T-C c.1975T>C p.W659R Missense 15/25 - 3
9-5077563-TG-GC c.1975_1976delinsGC p.W659A Missense 15/25 - 5
9-5077564-G-A c.1976G>A p.W659* Nonsense 15/25 - 1
9-5077564-G-C c.1976G>C p.W659S Missense 15/25 - 1
9-5077564-G-T c.1976G>T p.W659L Missense 15/25 - 1
9-5077565-G-A c.1977G>A p.W659* Nonsense 15/25 - 1
9-5077565-G-T c.1977G>T p.W659C Missense 15/25 - 1
9-5077566-G-A c.1978G>A p.A660T Missense 15/25 - 1
9-5077567-C-G c.1979C>G p.A660G Missense 15/25 - 1
9-5077567-C-T c.1979C>T p.A660V Missense 15/25 - 1
9-5077569-A-C c.1981A>C p.M661L Missense 15/25 - 1
9-5077569-A-G c.1981A>G p.M661V Missense 15/25 - 1
9-5077569-A-T c.1981A>T p.M661L Missense 15/25 - 1
9-5077571-G-C c.1983G>C p.M661I Missense 15/25 - 1
9-5077574-T-A c.1986T>A p.H662Q Missense 15/25 - 2
9-5077574-T-G c.1986T>G p.H662Q Missense 15/25 - 2
9-5077579-T-C c.1991T>C p.L664P Missense 15/25 - 1
9-5077584-A-G c.1992+4A>G - IntronicSNV - 15/24 1
9-5077603-C-G c.1992+23C>G - IntronicSNV - 15/24 1
9-5077615-T-C c.1992+35T>C - IntronicSNV - 15/24 1
9-5077653-G-A c.1992+73G>A - IntronicSNV - 15/24 1
9-5077658-C-A c.1992+78C>A - IntronicSNV - 15/24 1
9-5077670-C-A c.1992+90C>A - IntronicSNV - 15/24 1
9-5078046-G-C c.1993-260G>C - IntronicSNV - 15/24 2
9-5078117-T-C c.1993-189T>C - IntronicSNV - 15/24 16
9-5078201-A-G c.1993-105A>G - IntronicSNV - 15/24 1
9-5078201-A-T c.1993-105A>T - IntronicSNV - 15/24 1
9-5078284-T-C c.1993-22T>C - IntronicSNV - 15/24 1
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 - 4
9-5078309-G-A c.1996G>A p.E666K Missense 16/25 - 1
9-5078309-GA-AG c.1996_1997delinsAG p.E666R Missense 16/25 - 1
9-5078309-G-T c.1996G>T p.E666* Nonsense 16/25 - 1
9-5078310-A-C c.1997A>C p.E666A Missense 16/25 - 1
9-5078310-A-G c.1997A>G p.E666G Missense 16/25 - 1
9-5078311-A-C c.1998A>C p.E666D Missense 16/25 - 1
9-5078313-A-G c.2000A>G p.N667S Missense 16/25 - 1
9-5078314-C-A c.2001C>A p.N667K Missense 16/25 - 1
9-5078314-C-G c.2001C>G p.N667K Missense 16/25 - 2
9-5078315-A-C c.2002A>C p.T668P Missense 16/25 - 1
9-5078316-C-A c.2003C>A p.T668N Missense 16/25 - 1
9-5078316-C-T c.2003C>T p.T668I Missense 16/25 - 1
9-5078317-C-T c.2004C>T p.T668= Synonymous 16/25 - 2
9-5078318-C-T c.2005C>T p.L669F Missense 16/25 - 2
9-5078321-A-G c.2008A>G p.I670V Missense 16/25 - 2
9-5078324-C-T c.2011C>T p.H671Y Missense 16/25 - 1
9-5078325-A-G c.2012A>G p.H671R Missense 16/25 - 1
9-5078327-GGG-A c.2014_2016delinsA p.G672Kfs*26 Frameshift 16/25 - 1
9-5078328-G-A c.2015G>A p.G672E Missense 16/25 - 1
9-5078329-G-A c.2016G>A p.G672= Synonymous 16/25 - 1
9-5078329-G-C c.2016G>C p.G672= Synonymous 16/25 - 1
9-5078329-G-T c.2016G>T p.G672= Synonymous 16/25 - 1
9-5078330-A-G c.2017A>G p.N673D Missense 16/25 - 1
9-5078331-A-T c.2018A>T p.N673I Missense 16/25 - 1
9-5078333-GTA-ATG c.2020_2022delinsATG p.V674M Missense 16/25 - 2
9-5078334-T-A c.2021T>A p.V674E Missense 16/25 - 1
9-5078334-T-C c.2021T>C p.V674A Missense 16/25 - 1
9-5078338-T-A c.2025T>A p.C675* Nonsense 16/25 - 1
9-5078338-T-C c.2025T>C p.C675= Synonymous 16/25 - 1
9-5078338-T-G c.2025T>G p.C675W Missense 16/25 - 2
9-5078340-C-A c.2027C>A p.A676D Missense 16/25 - 1
9-5078340-C-T c.2027C>T p.A676V Missense 16/25 - 2
9-5078342-A-G c.2029A>G p.K677E Missense 16/25 - 2
9-5078344-A-AT c.2031_2032insT p.N678* Nonsense 16/25 - 1
9-5078344-A-C c.2031A>C p.K677N Missense 16/25 - 1
9-5078344-A-T c.2031A>T p.K677N Missense 16/25 - 1
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 - 2
9-5078351-C-A c.2038C>A p.L680M Missense 16/25 - 1
9-5078351-CT-GC c.2038_2039delinsGC p.L680A Missense 16/25 - 1
9-5078351-TCTGCTTATCAGAGAA-T c.2038_2052del p.L680_E684del InFrameDeletion 16/25 - 1
9-5078352-T-C c.2039T>C p.L680P Missense 16/25 - 1
9-5078353-G-A c.2040G>A p.L680= Synonymous 16/25 - 1
9-5078354-C-A c.2041C>A p.L681I Missense 16/25 - 1
9-5078354-C-T c.2041C>T p.L681F Missense 16/25 - 2
9-5078355-T-TTGG c.2043_2044insGGT p.L681_I682insG InFrameInsertion 16/25 - 1
9-5078356-T-A c.2043T>A p.L681= Synonymous 16/25 - 2
9-5078356-T-C c.2043T>C p.L681= Synonymous 16/25 - 2
9-5078356-T-G c.2043T>G p.L681= Synonymous 16/25 - 2
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 - 33
9-5078358-TC-CACCTTATGAGGGTATGCCTGGTCAT c.2045_2046delinsCACCTTATGAGGGTATGCCTGGTCAT p.I682delinsTPYEGMPGH MultiAAMissense 16/25 - 1
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 - 2
9-5078358-T-C c.2045T>C p.I682T Missense 16/25 - 3
9-5078358-TC-AG c.2045_2046delinsAG p.I682K Missense 16/25 - 2
9-5078359-C-CGGTCCT c.2046_2047insGGTCCT p.I682_R683insGP InFrameInsertion 16/25 - 1
9-5078359-C-T c.2046C>T p.I682= Synonymous 16/25 - 1
9-5078360-A-G c.2047A>G p.R683G Missense 16/25 - 147
9-5078360-AGA-TTT c.2047_2049delinsTTT p.R683F Missense 16/25 - 1
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 - 11
9-5078361-G-C c.2048G>C p.R683T Missense 16/25 - 22
9-5078361-G-T c.2048G>T p.R683I Missense 16/25 - 3
9-5078362-A-C c.2049A>C p.R683S Missense 16/25 - 37
9-5078362-A-T c.2049A>T p.R683S Missense 16/25 - 62
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
9-5078364-A-T c.2051A>T p.E684V Missense 16/25 - 3
9-5078366-G-A c.2053G>A p.E685K Missense 16/25 - 3
9-5078366-G-T c.2053G>T p.E685* Nonsense 16/25 - 1
9-5078361-GAGA-G c.2055_2057del p.E685del InFrameDeletion 16/25 - 1
9-5078369-AGAC-A c.2056_2058del p.D686del InFrameDeletion 16/25 - 2
9-5078369-G-A c.2056G>A p.D686N Missense 16/25 - 1
9-5078372-AG-CA c.2059_2060delinsCA p.R687Q Missense 16/25 - 6
9-5078372-AG-TA c.2059_2060delinsTA p.R687* Nonsense 16/25 - 1
9-5078374-G-A c.2061G>A p.R687= Synonymous 16/25 - 1
9-5078375-A-G c.2062A>G p.K688E Missense 16/25 - 1
9-5078376-A-G c.2063A>G p.K688R Missense 16/25 - 1
9-5078379-C-T c.2066C>T p.T689I Missense 16/25 - 1
9-5078380-A-G c.2067A>G p.T689= Synonymous 16/25 - 1
9-5078382-G-A c.2069G>A p.G690E Missense 16/25 - 1
9-5078382-G-T c.2069G>T p.G690V Missense 16/25 - 1
9-5078384-A-C c.2071A>C p.N691H Missense 16/25 - 4
9-5078385-A-G c.2072A>G p.N691S Missense 16/25 - 2
9-5078386-T-A c.2073T>A p.N691K Missense 16/25 - 1
9-5078386-T-C c.2073T>C p.N691= Synonymous 16/25 - 1
9-5078387-C-G c.2074C>G p.P692A Missense 16/25 - 1
9-5078387-C-T c.2074C>T p.P692S Missense 16/25 - 2
9-5078390-C-A c.2077C>A p.P693T Missense 16/25 - 1
9-5078390-C-G c.2077C>G p.P693A Missense 16/25 - 1
9-5078390-C-T c.2077C>T p.P693S Missense 16/25 - 2
9-5078393-T-C c.2080T>C p.F694L Missense 16/25 - 23
9-5078395-C-A c.2082C>A p.F694L Missense 16/25 - 21
9-5078395-C-G c.2082C>G p.F694L Missense 16/25 - 22
9-5078394-T-C c.2081T>C p.F694S Missense 16/25 - 6
9-5078394-T-G c.2081T>G p.F694C Missense 16/25 - 1
9-5078396-A-G c.2083A>G p.I695V Missense 16/25 - 4
9-5078399-A-C c.2086A>C p.K696Q Missense 16/25 - 1
9-5078400-A-G c.2087A>G p.K696R Missense 16/25 - 1
9-5078401-A-G c.2088A>G p.K696= Synonymous 16/25 - 1
9-5078402-C-T c.2089C>T p.L697F Missense 16/25 - 1
9-5078403-T-A c.2090T>A p.L697H Missense 16/25 - 1
9-5078403-T-G c.2090T>G p.L697R Missense 16/25 - 3
9-5078405-AG-GC c.2092_2093delinsGC p.S698A Missense 16/25 - 1
9-5078405-AG-TT c.2092_2093delinsTT p.S698F Missense 16/25 - 1
9-5078405-A-T c.2092A>T p.S698C Missense 16/25 - 1
9-5078406-G-A c.2093G>A p.S698N Missense 16/25 - 1
9-5078408-G-A c.2095G>A p.D699N Missense 16/25 - 1
9-5078408-GAT-AACAAC c.2095_2097delinsAACAAC p.D699delinsNN MultiAAMissense 16/25 - 1
9-5078408-G-T c.2095G>T p.D699Y Missense 16/25 - 3
9-5078409-A-C c.2096A>C p.D699A Missense 16/25 - 1
9-5078411-C-A c.2098C>A p.P700T Missense 16/25 - 1
9-5078412-C-T c.2099C>T p.P700L Missense 16/25 - 1
9-5078414-G-T c.2101G>T p.G701C Missense 16/25 - 1
9-5078417-A-G c.2104A>G p.I702V Missense 16/25 - 2
9-5078419-T-G c.2106T>G p.I702M Missense 16/25 - 1
9-5078423-A-C c.2110A>C p.I704L Missense 16/25 - 2
9-5078426-A-G c.2113A>G p.T705A 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
9-5078429-G-A c.2116G>A p.V706I 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
9-5078435-C-T c.2122C>T p.P708S Missense 16/25 - 2
9-5078436-C-T c.2123C>T p.P708L Missense 16/25 - 1
9-5078438-A-C c.2125A>C p.K709Q Missense 16/25 - 1
9-5078440-G-A c.2127G>A p.K709= Synonymous 16/25 - 1
9-5078441-G-A c.2128G>A p.D710N Missense 16/25 - 2
9-5078441-G-C c.2128G>C p.D710H Missense 16/25 - 1
9-5078444-A-G c.2131A>G p.I711V Missense 16/25 - 1
9-5078450-T-G c.2131+6T>G - IntronicSNV - 16/24 1
9-5078700-T-C c.2131+256T>C - IntronicSNV - 16/24 1
9-5078737-T-G c.2131+293T>G - IntronicSNV - 16/24 1
9-5079324-A-C c.2131+880A>C - IntronicSNV - 16/24 1
9-5079773-C-T c.2132-456C>T - IntronicSNV - 16/24 1
9-5079785-C-G c.2132-444C>G - IntronicSNV - 16/24 1
9-5079785-C-T c.2132-444C>T - IntronicSNV - 16/24 1
9-5079828-A-T c.2132-401A>T - IntronicSNV - 16/24 2
9-5080214-C-T c.2132-15C>T - IntronicSNV - 16/24 1
9-5080229-T-C c.2132T>C p.I711T Missense 17/25 - 1
9-5080229-T-G c.2132T>G p.I711S Missense 17/25 - 1
9-5080222-T-TTAAAAGTTTTTTTGTTCAAGCAGAAGACGGCATACGAGATTCCTCAATGTGACTGGAGTTCAGACGTGTGCTCTTCCGATC c.2133_2134insTTTTTGTTCAAGCAGAAGACGGCATACGAGATTCCTCAATGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTAAAAGTT p.I711_L712insFLFKQKTAYEIPQCDWSSDVCSSDLKV SpliceAcceptorInsertion 17/25 - 1
9-5080231-C-A c.2134C>A p.L712I Missense 17/25 - 1
9-5080231-C-G c.2134C>G p.L712V Missense 17/25 - 2
9-5080231-C-T c.2134C>T p.L712F Missense 17/25 - 1
9-5080232-T-C c.2135T>C p.L712P Missense 17/25 - 1
9-5080234-C-T c.2137C>T p.Q713* Nonsense 17/25 - 4
9-5080236-G-C c.2139G>C p.Q713H Missense 17/25 - 1
9-5080239-G-T c.2142G>T p.E714D 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
9-5080240-A-T c.2143A>T p.R715* Nonsense 17/25 - 1
9-5080241-G-C c.2144G>C p.R715T Missense 17/25 - 5
9-5080242-A-G c.2145A>G p.R715= Synonymous 17/25 - 1
9-5080247-C-G c.2150C>G p.P717R Missense 17/25 - 1
9-5080251-G-T c.2154G>T p.W718C Missense 17/25 - 2
9-5080252-GTA-ATG c.2155_2157delinsATG p.V719M Missense 17/25 - 1
9-5080255-C-G c.2158C>G p.P720A Missense 17/25 - 2
9-5080255-C-T c.2158C>T p.P720S Missense 17/25 - 1
9-5080256-C-A c.2159C>A p.P720Q Missense 17/25 - 2
9-5080256-C-T c.2159C>T p.P720L Missense 17/25 - 1
9-5080257-A-T c.2160A>T p.P720= Synonymous 17/25 - 1
9-5080260-T-A c.2163T>A p.P721= Synonymous 17/25 - 2
9-5080260-T-C c.2163T>C p.P721= Synonymous 17/25 - 3
9-5080260-T-G c.2163T>G p.P721= Synonymous 17/25 - 2
9-5080261-G-A c.2164G>A p.E722K Missense 17/25 - 3
9-5080264-T-A c.2167T>A p.C723S Missense 17/25 - 3
9-5080264-T-G c.2167T>G p.C723G Missense 17/25 - 1
9-5080264-TGC-AAGTAT c.2167_2169delinsAAGTAT p.C723delinsKY MultiAAMissense 17/25 - 1
9-5080265-G-C c.2168G>C p.C723S Missense 17/25 - 2
9-5080265-G-A c.2168G>A p.C723Y Missense 17/25 - 2
9-5080267-A-G c.2170A>G p.I724V Missense 17/25 - 1
9-5080268-T-C c.2171T>C p.I724T Missense 17/25 - 9
9-5080270-G-A c.2173G>A p.E725K Missense 17/25 - 3
9-5080270-G-C c.2173G>C p.E725Q Missense 17/25 - 1
9-5080270-G-T c.2173G>T p.E725* Nonsense 17/25 - 4
9-5080277-C-T c.2180C>T p.P727L Missense 17/25 - 3
9-5080282-A-C c.2185A>C p.N729H Missense 17/25 - 3
9-5080283-A-T c.2186A>T p.N729I Missense 17/25 - 1
9-5080284-T-C c.2187T>C p.N729= Synonymous 17/25 - 1
9-5080285-T-A c.2188T>A p.L730I Missense 17/25 - 1
9-5080286-T-G c.2189T>G p.L730* Nonsense 17/25 - 1
9-5080287-A-C c.2190A>C p.L730F Missense 17/25 - 1
9-5080287-A-T c.2190A>T p.L730F Missense 17/25 - 1
9-5080288-A-C c.2191A>C p.N731H Missense 17/25 - 1
9-5080288-A-T c.2191A>T p.N731Y Missense 17/25 - 1
9-5080293-G-A c.2196G>A p.L732= Synonymous 17/25 - 1
9-5080293-G-C c.2196G>C p.L732F Missense 17/25 - 4
9-5080294-G-C c.2197G>C p.A733P Missense 17/25 - 1
9-5080295-C-A c.2198C>A p.A733E Missense 17/25 - 1
9-5080297-A-G c.2200A>G p.T734A Missense 17/25 - 1
9-5080298-C-G c.2201C>G p.T734R Missense 17/25 - 1
9-5080301-A-G c.2204A>G p.D735G Missense 17/25 - 2
9-5080307-G-T c.2210G>T p.W737L Missense 17/25 - 1
9-5080308-G-C c.2211G>C p.W737C Missense 17/25 - 1
9-5080308-G-T c.2211G>T p.W737C Missense 17/25 - 2
9-5080309-AG-TA c.2212_2213delinsTA p.S738Y Missense 17/25 - 1
9-5080310-G-T c.2213G>T p.S738I Missense 17/25 - 1
9-5080312-T-A c.2215T>A p.F739I Missense 17/25 - 1
9-5080312-T-C c.2215T>C p.F739L Missense 17/25 - 1
9-5080312-TT-CG c.2215_2216delinsCG p.F739R Missense 17/25 - 5
9-5080314-T-A c.2217T>A p.F739L Missense 17/25 - 1
9-5080314-T-G c.2217T>G p.F739L Missense 17/25 - 1
9-5080315-G-T c.2218G>T p.G740C Missense 17/25 - 1
9-5080316-G-T c.2219G>T p.G740V Missense 17/25 - 3
9-5080316-GT-AG c.2219_2220delinsAG p.G740E Missense 17/25 - 1
9-5080317-T-A c.2220T>A p.G740= Synonymous 17/25 - 1
9-5080317-T-C c.2220T>C p.G740= Synonymous 17/25 - 1
9-5080317-T-G c.2220T>G p.G740= Synonymous 17/25 - 1
9-5080319-C-T c.2222C>T p.T741I Missense 17/25 - 1
9-5080318-A-AC c.2223dup p.T742Hfs*11 Frameshift 17/25 - 3
9-5080321-A-G c.2224A>G p.T742A Missense 17/25 - 1
9-5080322-C-T c.2225C>T p.T742I Missense 17/25 - 1
9-5080324-T-G c.2227T>G p.L743V Missense 17/25 - 2
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
9-5080328-G-T c.2231G>T p.W744L Missense 17/25 - 1
9-5080330-G-A c.2233G>A p.E745K Missense 17/25 - 1
9-5080330-G-T c.2233G>T p.E745* Nonsense 17/25 - 1
9-5080331-A-G c.2234A>G p.E745G Missense 17/25 - 2
9-5080332-A-C c.2235A>C p.E745D Missense 17/25 - 1
9-5080332-A-T c.2235A>T p.E745D Missense 17/25 - 1
9-5080334-T-C c.2237T>C p.I746T Missense 17/25 - 1
9-5080335-C-A c.2238C>A p.I746= Synonymous 17/25 - 1
9-5080335-C-G c.2238C>G p.I746M Missense 17/25 - 2
9-5080335-C-T c.2238C>T p.I746= Synonymous 17/25 - 1
9-5080337-G-A c.2240G>A p.C747Y Missense 17/25 - 1
9-5080337-G-T c.2240G>T p.C747F Missense 17/25 - 1
9-5080343-G-A c.2246G>A p.G749E Missense 17/25 - 1
9-5080345-G-A c.2248G>A p.G750R Missense 17/25 - 1
9-5080345-G-C c.2248G>C p.G750R Missense 17/25 - 1
9-5080346-G-A c.2249G>A p.G750E Missense 17/25 - 1
9-5080348-G-A c.2251G>A p.D751N Missense 17/25 - 1
9-5080348-G-T c.2251G>T p.D751Y Missense 17/25 - 1
9-5080349-A-G c.2252A>G p.D751G Missense 17/25 - 1
9-5080352-A-C c.2255A>C p.K752T Missense 17/25 - 1
9-5080354-C-T c.2257C>T p.P753S Missense 17/25 - 1
9-5080357-C-G c.2260C>G p.L754V Missense 17/25 - 2
9-5080357-C-T c.2260C>T p.L754= Synonymous 17/25 - 1
9-5080358-T-C c.2261T>C p.L754P Missense 17/25 - 2
9-5080360-AG-CT c.2263_2264inv p.S755L 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-C c.2265T>C p.S755= Synonymous 17/25 - 2
9-5080362-T-G c.2265T>G p.S755R Missense 17/25 - 10
9-5080363-G-A c.2266G>A p.A756T Missense 17/25 - 1
9-5080364-C-T c.2267C>T p.A756V Missense 17/25 - 2
9-5080365-T-TGATCGGAAGAGCACACGTCTGAACTCCAGTCACCCTCTATCATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACAAA c.2268_2269insGATCGGAAGAGCACACGTCTGAACTCCAGTCACCCTCTATCATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACAAA p.L757Dfs*22 Frameshift 17/25 - 1
9-5080369-G-T c.2272G>T p.D758Y Missense 17/25 - 1
9-5080373-C-A c.2276C>A p.S759Y Missense 17/25 - 1
9-5080373-C-G c.2276C>G p.S759C Missense 17/25 - 1
9-5080373-C-T c.2276C>T p.S759F Missense 17/25 - 1
9-5080377-A-C c.2280A>C p.Q760H Missense 17/25 - 1
9-5080377-A-T c.2280A>T p.Q760H Missense 17/25 - 3
9-5080378-A-G c.2281A>G p.R761G Missense 17/25 - 1
9-5080379-G-A c.2282G>A p.R761K Missense 17/25 - 1
9-5080381-G-C c.2283+1G>C - IntronicSNV - 17/24 3
9-5080392-T-A c.2283+12T>A - IntronicSNV - 17/24 1
9-5080392-T-C c.2283+12T>C - IntronicSNV - 17/24 1
9-5080392-T-G c.2283+12T>G - IntronicSNV - 17/24 1
9-5080530-TAGA-T c.2284_2286del p.K762del SpliceAcceptorDeletion 18/25 - 1
9-5080533-A-C c.2284A>C p.K762Q Missense 18/25 - 1
9-5080533-A-G c.2284A>G p.K762E Missense 18/25 - 2
9-5080534-A-G c.2285A>G p.K762R Missense 18/25 - 4
9-5080535-G-A c.2286G>A p.K762= Synonymous 18/25 - 2
9-5080539-C-G c.2290C>G p.Q764E Missense 18/25 - 1
9-5080540-A-G c.2291A>G p.Q764R Missense 18/25 - 1
9-5080541-A-C c.2292A>C p.Q764H Missense 18/25 - 1
9-5080541-A-T c.2292A>T p.Q764H Missense 18/25 - 1
9-5080543-T-A c.2294T>A p.F765Y Missense 18/25 - 1
9-5080543-T-G c.2294T>G p.F765C Missense 18/25 - 1
9-5080545-TAT-GAG c.2296_2298delinsGAG p.Y766E Missense 18/25 - 1
9-5080548-G-A c.2299G>A p.E767K Missense 18/25 - 1
9-5080549-A-G c.2300A>G p.E767G Missense 18/25 - 1
9-5080550-A-G c.2301A>G p.E767= Synonymous 18/25 - 1
9-5080551-G-C c.2302G>C p.D768H Missense 18/25 - 3
9-5080554-AG-CA c.2305_2306delinsCA p.R769Q Missense 18/25 - 1
9-5080554-A-T c.2305A>T p.R769W Missense 18/25 - 1
9-5080555-G-A c.2306G>A p.R769K Missense 18/25 - 2
9-5080558-A-G c.2309A>G p.H770R Missense 18/25 - 1
9-5080558-A-T c.2309A>T p.H770L Missense 18/25 - 4
9-5080558-CA-C c.2309del p.H770Lfs*11 Frameshift 18/25 - 1
9-5080560-C-T c.2311C>T p.Q771* Nonsense 18/25 - 2
9-5080561-A-G c.2312A>G p.Q771R Missense 18/25 - 1
9-5080563-C-T c.2314C>T p.L772F Missense 18/25 - 1
9-5080566-CCT-TTTAGC c.2317_2319delinsTTTAGC p.P773delinsFS MultiAAMissense 18/25 - 1
9-5080566-CC-TTTTT c.2317_2318delinsTTTTT p.P773delinsFF MultiAAMissense 18/25 - 1
9-5080566-C-G c.2317C>G p.P773A Missense 18/25 - 1
9-5080566-C-T c.2317C>T p.P773S Missense 18/25 - 2
9-5080567-C-A c.2318C>A p.P773H Missense 18/25 - 2
9-5080567-C-T c.2318C>T p.P773L Missense 18/25 - 1
9-5080569-G-A c.2320G>A p.A774T Missense 18/25 - 2
9-5080569-G-C c.2320G>C p.A774P Missense 18/25 - 1
9-5080569-G-T c.2320G>T p.A774S Missense 18/25 - 4
9-5080572-C-G c.2323C>G p.P775A Missense 18/25 - 2
9-5080572-C-T c.2323C>T p.P775S Missense 18/25 - 1
9-5080573-C-CAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCCTCTATCATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACAA c.2325_2326insGATCGGAAGAGCACACGTCTGAACTCCAGTCACCCTCTATCATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACAAA p.K776Dfs*22 Frameshift 18/25 - 1
9-5080578-TG-GC c.2329_2330delinsGC p.W777A Missense 18/25 - 5
9-5080579-G-A c.2330G>A p.W777* Nonsense 18/25 - 3
9-5080580-G-A c.2331G>A p.W777* Nonsense 18/25 - 4
9-5080581-G-A c.2332G>A p.A778T Missense 18/25 - 8
9-5080582-C-T c.2333C>T p.A778V Missense 18/25 - 3
9-5080584-G-A c.2335G>A p.E779K Missense 18/25 - 1
9-5080585-A-T c.2336A>T p.E779V Missense 18/25 - 1
9-5080586-A-G c.2337A>G p.E779= Synonymous 18/25 - 1
9-5080593-A-T c.2344A>T p.N782Y Missense 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 - 2
9-5080605-A-G c.2356A>G p.N786D Missense 18/25 - 1
9-5080608-T-A c.2359T>A p.C787S Missense 18/25 - 1
9-5080608-T-C c.2359T>C p.C787R Missense 18/25 - 4
9-5080611-A-G c.2362A>G p.M788V Missense 18/25 - 1
9-5080612-T-C c.2363T>C p.M788T Missense 18/25 - 2
9-5080613-G-A c.2364G>A p.M788I Missense 18/25 - 2
9-5080613-G-C c.2364G>C p.M788I Missense 18/25 - 2
9-5080613-G-T c.2364G>T p.M788I Missense 18/25 - 3
9-5080614-G-A c.2365G>A p.D789N Missense 18/25 - 3
9-5080614-GAT-TATATCAAC c.2365_2367delinsTATATCAAC p.D789delinsYIN MultiAAMissense 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
9-5080620-G-T c.2371G>T p.E791* Nonsense 18/25 - 1
9-5080622-A-G c.2373A>G p.E791= Synonymous 18/25 - 1
9-5080623-C-G c.2374C>G p.P792A Missense 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
9-5080626-G-A c.2377G>A p.D793N Missense 18/25 - 4
9-5080629-T-A c.2380T>A p.F794I Missense 18/25 - 1
9-5080629-TT-CA c.2380_2381delinsCA p.F794H Missense 18/25 - 5
9-5080629-TTC-CAA c.2380_2382delinsCAA p.F794Q Missense 18/25 - 1
9-5080631-C-T c.2382C>T p.F794= Synonymous 18/25 - 2
9-5080632-A-G c.2383A>G p.R795G Missense 18/25 - 1
9-5080634-G-T c.2385G>T p.R795S Missense 18/25 - 3
9-5080636-C-T c.2387C>T p.P796L Missense 18/25 - 2
9-5080638-TC-AA c.2389_2390delinsAA p.S797N Missense 18/25 - 1
9-5080635-CCTT-C c.2390_2392del p.S797del InFrameDeletion 18/25 - 1
9-5080639-C-G c.2390C>G p.S797C Missense 18/25 - 7
9-5080639-C-T c.2390C>T p.S797F Missense 18/25 - 2
9-5080643-C-T c.2394C>T p.F798= Synonymous 18/25 - 1
9-5080644-AGA-TGG c.2395_2397delinsTGG p.R799W Missense 18/25 - 1
9-5080644-A-T c.2395A>T p.R799* Nonsense 18/25 - 1
9-5080645-G-A c.2396G>A p.R799K Missense 18/25 - 1
9-5080645-GA-TG c.2396_2397delinsTG p.R799M Missense 18/25 - 1
9-5080645-G-C c.2396G>C p.R799T Missense 18/25 - 1
9-5080645-G-T c.2396G>T p.R799I Missense 18/25 - 1
9-5080647-G-A c.2398G>A p.A800T Missense 18/25 - 1
9-5080648-C-A c.2399C>A p.A800D Missense 18/25 - 1
9-5080650-A-C c.2401A>C p.I801L Missense 18/25 - 1
9-5080650-A-G c.2401A>G p.I801V Missense 18/25 - 1
9-5080650-A-T c.2401A>T p.I801F Missense 18/25 - 1
9-5080652-C-A c.2403C>A p.I801= Synonymous 18/25 - 1
9-5080652-C-T c.2403C>T p.I801= Synonymous 18/25 - 2
9-5080656-CGA-AGC c.2407_2409delinsAGC p.R803S Missense 18/25 - 1
9-5080656-C-T c.2407C>T p.R803* Nonsense 18/25 - 3
9-5080657-G-A c.2408G>A p.R803Q Missense 18/25 - 4
9-5080659-G-A c.2410G>A p.D804N Missense 18/25 - 1
9-5080659-G-T c.2410G>T p.D804Y Missense 18/25 - 1
9-5080660-A-G c.2411A>G p.D804G Missense 18/25 - 2
9-5080661-T-A c.2412T>A p.D804E Missense 18/25 - 1
9-5080661-T-G c.2412T>G p.D804E Missense 18/25 - 1
9-5080663-T-C c.2414T>C p.L805P Missense 18/25 - 1
9-5080663-T-G c.2414T>G p.L805R Missense 18/25 - 1
9-5080664-T-G c.2415T>G p.L805= Synonymous 18/25 - 1
9-5080665-A-C c.2416A>C p.N806H Missense 18/25 - 1
9-5080664-TA-T c.2417del p.N806Tfs*11 Frameshift 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 - 7
9-5080673-G-T c.2424G>T p.L808F Missense 18/25 - 1
9-5080674-T-A c.2425T>A p.F809I Missense 18/25 - 1
9-5080676-T-A c.2427T>A p.F809L 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
9-5080678-C-T c.2429C>T p.T810I Missense 18/25 - 1
9-5080679-T-A c.2430T>A p.T810= Synonymous 18/25 - 1
9-5080679-T-C c.2430T>C p.T810= Synonymous 18/25 - 2
9-5080679-T-G c.2430T>G p.T810= Synonymous 18/25 - 1
9-5080680-C-A c.2431C>A p.P811T Missense 18/25 - 2
9-5080680-C-T c.2431C>T p.P811S Missense 18/25 - 1
9-5080683-G-C c.2434G>C p.D812H Missense 18/25 - 1
9-5080683-G-T c.2434G>T p.D812Y Missense 18/25 - 2
9-5080892-CTTTT-C c.2434+227_2434+230del - IntronicDeletion - 18/24 1
9-5080990-G-T c.2434+307G>T - IntronicSNV - 18/24 1
9-5081334-C-G c.2435-391C>G - IntronicSNV - 18/24 5
9-5081334-C-T c.2435-391C>T - IntronicSNV - 18/24 5
9-5081478-T-G c.2435-247T>G - IntronicSNV - 18/24 1
9-5081585-A-G c.2435-140A>G - IntronicSNV - 18/24 6
9-5081725-A-T c.2435A>T p.D812V Missense 19/25 - 4
9-5081726-T-C c.2436T>C p.D812= Synonymous 19/25 - 1
9-5081727-T-G c.2437T>G p.Y813D Missense 19/25 - 3
9-5081728-A-C c.2438A>C p.Y813S Missense 19/25 - 1
9-5081728-A-T c.2438A>T p.Y813F Missense 19/25 - 9
9-5081729-T-C c.2439T>C p.Y813= Synonymous 19/25 - 1
9-5081728-A-ATGTAACTAATATCCTGATTATTTGCTG c.2440_2441insTAACTAATATCCTGATTATTTGCTGTG p.Y813_E814insVTNILIICC InFrameInsertion 19/25 - 1
9-5081730-GA-TC c.2440_2441inv p.E814S Missense 19/25 - 1
9-5081730-G-T c.2440G>T p.E814* Nonsense 19/25 - 2
9-5081732-A-AC c.2443dup p.L815Pfs*6 Frameshift 19/25 - 1
9-5081733-C-A c.2443C>A p.L815I Missense 19/25 - 2
9-5081734-T-C c.2444T>C p.L815P Missense 19/25 - 7
9-5081740-C-A c.2450C>A p.T817K Missense 19/25 - 1
9-5081742-G-T c.2452G>T p.E818* Nonsense 19/25 - 2
9-5081748-G-T c.2458G>T p.D820Y Missense 19/25 - 8
9-5081749-A-G c.2459A>G p.D820G Missense 19/25 - 1
9-5081749-A-T c.2459A>T p.D820V Missense 19/25 - 1
9-5081753-G-A c.2463G>A p.M821I Missense 19/25 - 2
9-5081753-G-C c.2463G>C p.M821I Missense 19/25 - 1
9-5081753-G-T c.2463G>T p.M821I Missense 19/25 - 1
9-5081754-T-G c.2464T>G p.L822V Missense 19/25 - 1
9-5081754-TT-AG c.2464_2465delinsAG p.L822R Missense 19/25 - 1
9-5081757-C-T c.2467C>T p.P823S Missense 19/25 - 1
9-5081758-C-T c.2468C>T p.P823L Missense 19/25 - 6
9-5081760-A-C c.2470A>C p.N824H Missense 19/25 - 1
9-5081766-AG-CC c.2476_2477delinsCC p.R826P Missense 19/25 - 1
9-5081768-G-T c.2478G>T p.R826S Missense 19/25 - 2
9-5081769-A-G c.2479A>G p.I827V Missense 19/25 - 1
9-5081771-A-T c.2481A>T p.I827= Synonymous 19/25 - 1
9-5081772-G-T c.2482G>T p.G828C Missense 19/25 - 1
9-5081774-T-A c.2484T>A p.G828= Synonymous 19/25 - 1
9-5081774-T-C c.2484T>C p.G828= Synonymous 19/25 - 1
9-5081774-T-G c.2484T>G p.G828= Synonymous 19/25 - 1
9-5081775-G-A c.2485G>A p.A829T Missense 19/25 - 2
9-5081775-G-C c.2485G>C p.A829P Missense 19/25 - 5
9-5081776-C-G c.2486C>G p.A829G Missense 19/25 - 1
9-5081776-C-T c.2486C>T p.A829V Missense 19/25 - 1
9-5081778-C-G c.2488C>G p.L830V Missense 19/25 - 3
9-5081778-CT-TA c.2488_2489delinsTA p.L830* Missense 19/25 - 2
9-5081778-C-T c.2488C>T p.L830= Synonymous 19/25 - 7
9-5081780-G-A c.2490G>A p.L830= Synonymous 19/25 - 45
9-5081780-G-C c.2490G>C p.L830= Synonymous 19/25 - 32
9-5081780-G-T c.2490G>T p.L830= Synonymous 19/25 - 4
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 - 2
9-5081782-G-A c.2492G>A p.G831E Missense 19/25 - 2
9-5081788-C-A c.2498C>A p.S833Y Missense 19/25 - 1
9-5081788-C-G c.2498C>G p.S833C Missense 19/25 - 1
9-5081789-T-A c.2499T>A p.S833= Synonymous 19/25 - 1
9-5081789-T-C c.2499T>C p.S833= Synonymous 19/25 - 1
9-5081789-T-G c.2499T>G p.S833= Synonymous 19/25 - 1
9-5081791-G-A c.2501G>A p.G834D 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 - 6
9-5081794-C-G c.2504C>G p.A835G Missense 19/25 - 1
9-5081798-T-A c.2508T>A p.F836L Missense 19/25 - 1
9-5081805-C-A c.2515C>A p.R839= Synonymous 19/25 - 1
9-5081805-C-G c.2515C>G p.R839G Missense 19/25 - 1
9-5081805-CGG-TGT c.2515_2517delinsTGT p.R839C Missense 19/25 - 1
9-5081805-C-T c.2515C>T p.R839W Missense 19/25 - 3
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
9-5081806-G-A c.2516G>A p.R839Q Missense 19/25 - 2
9-5081808-G-A c.2518G>A p.D840N Missense 19/25 - 3
9-5081808-G-C c.2518G>C p.D840H Missense 19/25 - 1
9-5081809-A-G c.2519A>G p.D840G Missense 19/25 - 1
9-5081811-C-T c.2521C>T p.P841S Missense 19/25 - 5
9-5081812-C-G c.2522C>G