TLR4

TLR4 toll like receptor 4

Annotation transcript: NM_138554.5

2217 unique variant annotations were identified in 2412 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
9-120466751-A-G c.1A>G p.M1? Missense 1/3 - 2
9-120466753-G-A c.3G>A p.M1? Missense 1/3 - 3
9-120466755-T-C c.5T>C p.M2T Missense 1/3 - 1
9-120466755-T-G c.5T>G p.M2R Missense 1/3 - 1
9-120466757-TC-CT c.7_8delinsCT p.S3L Missense 1/3 - 1
9-120466759-T-A c.9T>A p.S3= Synonymous 1/3 - 1
9-120466759-T-C c.9T>C p.S3= Synonymous 1/3 - 1
9-120466759-T-G c.9T>G p.S3= Synonymous 1/3 - 1
9-120466760-G-A c.10G>A p.A4T Missense 1/3 - 1
9-120466760-GCC-TAA c.10_12delinsTAA p.A4* Nonsense 1/3 - 1
9-120466761-CC-AG c.11_12delinsAG p.A4E Missense 1/3 - 1
9-120466762-C-A c.12C>A p.A4= Synonymous 1/3 - 2
9-120466762-C-G c.12C>G p.A4= Synonymous 1/3 - 2
9-120466762-C-T c.12C>T p.A4= Synonymous 1/3 - 2
9-120466762-C-CT c.13dup p.S5Ffs*31 Frameshift 1/3 - 1
9-120466762-C-CTGTGTGTGTGTGTGTGTGTGTGTGTGTG c.13_14insGTGTGTGTGTGTGTGTGTGTGTGTGTGT p.S5Cfs*40 Frameshift 1/3 - 1
9-120466763-TC-GA c.13_14inv p.S5E Missense 1/3 - 1
9-120466764-C-T c.14C>T p.S5L Missense 1/3 - 1
9-120466767-G-A c.17G>A p.R6H Missense 1/3 - 2
9-120466768-C-A c.18C>A p.R6= Synonymous 1/3 - 1
9-120466768-C-G c.18C>G p.R6= Synonymous 1/3 - 2
9-120466768-C-T c.18C>T p.R6= Synonymous 1/3 - 1
9-120466769-C-A c.19C>A p.L7M Missense 1/3 - 1
9-120466770-T-G c.20T>G p.L7R Missense 1/3 - 1
9-120466772-G-A c.22G>A p.A8T Missense 1/3 - 2
9-120466772-G-T c.22G>T p.A8S Missense 1/3 - 1
9-120466773-C-T c.23C>T p.A8V Missense 1/3 - 1
9-120466774-T-A c.24T>A p.A8= Synonymous 1/3 - 1
9-120466774-T-C c.24T>C p.A8= Synonymous 1/3 - 1
9-120466774-T-G c.24T>G p.A8= Synonymous 1/3 - 1
9-120466775-GG-AA c.25_26delinsAA p.G9K Missense 1/3 - 1
9-120466776-G-A c.26G>A p.G9E Missense 1/3 - 1
9-120466777-G-A c.27G>A p.G9= Synonymous 1/3 - 3
9-120466778-AC-TG c.28_29delinsTG p.T10C Missense 1/3 - 1
9-120466776-GGACTCT-G c.29_34del p.T10_L11del InFrameDeletion 1/3 - 1
9-120466779-AC-A c.29del p.T10Ifs*2 Frameshift 1/3 - 1
9-120466779-C-T c.29C>T p.T10I Missense 1/3 - 1
9-120466780-T-A c.30T>A p.T10= Synonymous 1/3 - 1
9-120466781-CT-GC c.31_32delinsGC p.L11A Missense 1/3 - 1
9-120466781-TCTG-T c.31_33del p.L11del InFrameDeletion 1/3 - 1
9-120466782-T-A c.32T>A p.L11Q Missense 1/3 - 2
9-120466781-C-T c.31C>T p.L11= Synonymous 1/3 - 3
9-120466783-G-A c.33G>A p.L11= Synonymous 1/3 - 3
9-120466783-G-C c.33G>C p.L11= Synonymous 1/3 - 3
9-120466783-G-T c.33G>T p.L11= Synonymous 1/3 - 3
9-120466784-A-AG c.34_35insG p.I12Sfs*24 Frameshift 1/3 - 1
9-120466787-C-A c.37C>A p.P13T Missense 1/3 - 1
9-120466787-CC-AA c.37_38delinsAA p.P13K Missense 1/3 - 117
9-120466787-C-T c.37C>T p.P13S Missense 1/3 - 2
9-120466788-C-T c.38C>T p.P13L Missense 1/3 - 2
9-120466790-G-A c.40G>A p.A14T Missense 1/3 - 2
9-120466790-G-C c.40G>C p.A14P Missense 1/3 - 1
9-120466790-GC-AA c.40_41delinsAA p.A14N Missense 1/3 - 1
9-120466790-GCC-AAG c.40_42delinsAAG p.A14K Missense 1/3 - 1
9-120466790-GCC-ATG c.40_42delinsATG p.A14M Missense 1/3 - 1
9-120466790-GCC-CAA c.40_42delinsCAA p.A14Q Missense 1/3 - 1
9-120466790-GC-CG c.40_41delinsCG p.A14R Missense 1/3 - 1
9-120466790-GC-CT c.40_41delinsCT p.A14L Missense 1/3 - 1
9-120466790-GCC-TAA c.40_42delinsTAA p.A14* Nonsense 1/3 - 2
9-120466790-GCC-TGG c.40_42delinsTGG p.A14W Missense 1/3 - 2
9-120466790-GC-TA c.40_41delinsTA p.A14Y Missense 1/3 - 1
9-120466790-GC-TG c.40_41delinsTG p.A14C Missense 1/3 - 1
9-120466790-G-T c.40G>T p.A14S Missense 1/3 - 3
9-120466791-C-A c.41C>A p.A14D Missense 1/3 - 4
9-120466791-C-G c.41C>G p.A14G Missense 1/3 - 2
9-120466791-C-T c.41C>T p.A14V Missense 1/3 - 4
9-120466792-C-A c.42C>A p.A14= Synonymous 1/3 - 1
9-120466792-C-G c.42C>G p.A14= Synonymous 1/3 - 2
9-120466792-C-T c.42C>T p.A14= Synonymous 1/3 - 1
9-120466793-AT-GC c.43_44delinsGC p.M15A Missense 1/3 - 1
9-120466795-G-A c.45G>A p.M15I Missense 1/3 - 1
9-120466795-G-C c.45G>C p.M15I Missense 1/3 - 1
9-120466795-G-T c.45G>T p.M15I Missense 1/3 - 1
9-120466796-G-A c.46G>A p.A16T Missense 1/3 - 2
9-120466796-GC-CT c.46_47delinsCT p.A16L Missense 1/3 - 1
9-120466796-GCC-TAA c.46_48delinsTAA p.A16* Nonsense 1/3 - 1
9-120466796-GC-TA c.46_47delinsTA p.A16Y Missense 1/3 - 1
9-120466796-GC-TG c.46_47delinsTG p.A16C Missense 1/3 - 1
9-120466796-GC-TT c.46_47delinsTT p.A16F Missense 1/3 - 3
9-120466796-G-T c.46G>T p.A16S Missense 1/3 - 4
9-120466797-C-A c.47C>A p.A16D Missense 1/3 - 1
9-120466797-C-T c.47C>T p.A16V Missense 1/3 - 3
9-120466799-TT-CG c.49_50delinsCG p.F17R Missense 1/3 - 1
9-120466799-TT-GC c.49_50delinsGC p.F17A Missense 1/3 - 1
9-120466802-C-G c.52C>G p.L18V Missense 1/3 - 1
9-120466802-C-T c.52C>T p.L18F Missense 1/3 - 10
9-120466802-CT-GC c.52_53delinsGC p.L18A Missense 1/3 - 3
9-120466803-T-G c.53T>G p.L18R Missense 1/3 - 1
9-120466805-TC-AA c.55_56delinsAA p.S19N Missense 1/3 - 1
9-120466805-TC-GA c.55_56inv p.S19D Missense 1/3 - 2
9-120466805-T-G c.55T>G p.S19A Missense 1/3 - 8
9-120466806-C-G c.56C>G p.S19C Missense 1/3 - 5
9-120466806-C-T c.56C>T p.S19F Missense 1/3 - 6
9-120466807-C-A c.57C>A p.S19= Synonymous 1/3 - 1
9-120466808-T-C c.58T>C p.C20R Missense 1/3 - 1
9-120466808-TG-AA c.58_59delinsAA p.C20N Missense 1/3 - 1
9-120466808-TG-CA c.58_59inv p.C20H Missense 1/3 - 1
9-120466808-TGC-ATG c.58_60delinsATG p.C20M Missense 1/3 - 1
9-120466808-TG-GC c.58_59delinsGC p.C20A Missense 1/3 - 2
9-120466811-G-A c.61G>A p.V21M Missense 1/3 - 1
9-120466811-G-C c.61G>C p.V21L Missense 1/3 - 1
9-120466811-G-T c.61G>T p.V21L Missense 1/3 - 1
9-120466811-GTG-TGT c.61_63delinsTGT p.V21C Missense 1/3 - 1
9-120466812-T-A c.62T>A p.V21E Missense 1/3 - 1
9-120466813-G-A c.63G>A p.V21= Synonymous 1/3 - 1
9-120466813-G-C c.63G>C p.V21= Synonymous 1/3 - 1
9-120466813-G-T c.63G>T p.V21= Synonymous 1/3 - 1
9-120466814-AGA-CAT c.64_66delinsCAT p.R22H Missense 1/3 - 1
9-120466818-CA-AT c.68_69delinsAT p.P23H Missense 1/3 - 11
9-120466818-C-T c.68C>T p.P23L Missense 1/3 - 1
9-120466820-G-A c.70G>A p.E24K Missense 1/3 - 3
9-120466820-GAA-ATG c.70_72delinsATG p.E24M Missense 1/3 - 1
9-120466821-A-C c.71A>C p.E24A Missense 1/3 - 1
9-120466823-AGC-GAG c.73_75delinsGAG p.S25E Missense 1/3 - 1
9-120466823-AG-GC c.73_74delinsGC p.S25A Missense 1/3 - 3
9-120466823-AG-TT c.73_74delinsTT p.S25F Missense 1/3 - 1
9-120466823-A-T c.73A>T p.S25C Missense 1/3 - 3
9-120466824-G-A c.74G>A p.S25N Missense 1/3 - 6
9-120466824-G-C c.74G>C p.S25T Missense 1/3 - 2
9-120466825-C-A c.75C>A p.S25R Missense 1/3 - 1
9-120466826-TG-GC c.76_77delinsGC p.W26A Missense 1/3 - 1
9-120466827-G-A c.77G>A p.W26* Nonsense 1/3 - 1
9-120466828-G-A c.78G>A p.W26* Nonsense 1/3 - 1
9-120466828-G-C c.78G>C p.W26C Missense 1/3 - 4
9-120466828-G-T c.78G>T p.W26C Missense 1/3 - 6
9-120466829-G-A c.79G>A p.E27K Missense 1/3 - 3
9-120466829-G-C c.79G>C p.E27Q Missense 1/3 - 3
9-120466831-G-A c.81G>A p.E27= Synonymous 1/3 - 2
9-120466831-G-C c.81G>C p.E27D Missense 1/3 - 2
9-120466831-G-T c.81G>T p.E27D Missense 1/3 - 2
9-120466832-CC-GA c.82_83delinsGA p.P28D Missense 1/3 - 1
9-120466832-CC-TG c.82_83delinsTG p.P28C Missense 1/3 - 1
9-120466832-C-T c.82C>T p.P28S Missense 1/3 - 1
9-120466834-C-A c.84C>A p.P28= Synonymous 1/3 - 2
9-120466834-C-G c.84C>G p.P28= Synonymous 1/3 - 2
9-120466834-C-T c.84C>T p.P28= Synonymous 1/3 - 2
9-120466835-T-C c.85T>C p.C29R Missense 1/3 - 2
9-120466835-TGC-GAG c.85_87delinsGAG p.C29E Missense 1/3 - 1
9-120466835-TG-CT c.85_86delinsCT p.C29L Missense 1/3 - 2
9-120466835-TG-GA c.85_86delinsGA p.C29D Missense 1/3 - 1
9-120466835-TG-GC c.85_86delinsGC p.C29A Missense 1/3 - 3
9-120466836-G-T c.86G>T p.C29F Missense 1/3 - 1
9-120466837-C-A c.87C>A p.C29* Nonsense 1/3 - 5
9-120466837-C-T c.87C>T p.C29= Synonymous 1/3 - 2
9-120466838-G-A c.88G>A p.V30M Missense 1/3 - 5
9-120466838-G-C c.88G>C p.V30L Missense 1/3 - 2
9-120466838-G-T c.88G>T p.V30L Missense 1/3 - 2
9-120466839-T-C c.89T>C p.V30A Missense 1/3 - 1
9-120466841-G-A c.91G>A p.E31K Missense 1/3 - 1
9-120466841-GA-AG c.91_92delinsAG p.E31R Missense 1/3 - 1
9-120466842-A-T c.92A>T p.E31V Missense 1/3 - 1
9-120466875-T-G c.93+32T>G - IntronicSNV - 1/2 1
9-120466896-T-A c.93+53T>A - IntronicSNV - 1/2 1
9-120466929-GC-G c.93+86del - IntronicDeletion - 1/2 1
9-120466929-CAA-C c.93+97_93+98del - IntronicDeletion - 1/2 2
9-120466929-CA-C c.93+98del - IntronicDeletion - 1/2 2
9-120466929-C-CA c.93+98dup - IntronicInsertion - 1/2 1
9-120467974-G-A c.93+1131G>A - IntronicSNV - 1/2 1
9-120468649-T-C c.93+1806T>C - IntronicSNV - 1/2 4
9-120469426-C-T c.94-1415C>T - IntronicSNV - 1/2 2
9-120469550-T-G c.94-1291T>G - IntronicSNV - 1/2 5
9-120469664-A-G c.94-1177A>G - IntronicSNV - 1/2 1
9-120469832-A-G c.94-1009A>G - IntronicSNV - 1/2 7
9-120470054-A-G c.94-787A>G - IntronicSNV - 1/2 126
9-120470148-A-G c.94-693A>G - IntronicSNV - 1/2 4
9-120470358-G-A c.94-483G>A - IntronicSNV - 1/2 2
9-120470372-A-C c.94-469A>C - IntronicSNV - 1/2 7
9-120470498-A-C c.94-343A>C - IntronicSNV - 1/2 6
9-120470841-G-A c.94G>A p.V32M Missense 2/3 - 1
9-120470841-G-C c.94G>C p.V32L Missense 2/3 - 1
9-120470841-G-T c.94G>T p.V32L Missense 2/3 - 1
9-120470841-GTG-ATC c.94_96delinsATC p.V32I Missense 2/3 - 1
9-120470842-T-G c.95T>G p.V32G Missense 2/3 - 1
9-120470844-G-A c.97G>A p.V33I Missense 2/3 - 2
9-120470844-G-T c.97G>T p.V33F Missense 2/3 - 1
9-120470845-T-C c.98T>C p.V33A Missense 2/3 - 1
9-120470847-C-A c.100C>A p.P34T Missense 2/3 - 1
9-120470847-CC-TT c.100_101delinsTT p.P34F Missense 2/3 - 1
9-120470847-C-T c.100C>T p.P34S Missense 2/3 - 7
9-120470848-C-A c.101C>A p.P34H Missense 2/3 - 1
9-120470848-C-T c.101C>T p.P34L Missense 2/3 - 5
9-120470850-AA-GC c.103_104delinsGC p.N35A Missense 2/3 - 2
9-120470850-A-G c.103A>G p.N35D Missense 2/3 - 1
9-120470851-A-T c.104A>T p.N35I Missense 2/3 - 1
9-120470852-T-C c.105T>C p.N35= Synonymous 2/3 - 1
9-120470854-TT-AG c.107_108delinsAG p.I36K Missense 2/3 - 1
9-120470856-A-G c.109A>G p.T37A Missense 2/3 - 1
9-120470857-C-G c.110C>G p.T37S Missense 2/3 - 1
9-120470862-CA-TC c.115_116delinsTC p.Q39S Missense 2/3 - 1
9-120470863-A-G c.116A>G p.Q39R Missense 2/3 - 1
9-120470864-A-G c.117A>G p.Q39= Synonymous 2/3 - 1
9-120470865-T-A c.118T>A p.C40S Missense 2/3 - 2
9-120470865-TG-CT c.118_119delinsCT p.C40L Missense 2/3 - 2
9-120470865-TG-GC c.118_119delinsGC p.C40A Missense 2/3 - 2
9-120470866-G-C c.119G>C p.C40S Missense 2/3 - 2
9-120470866-G-A c.119G>A p.C40Y Missense 2/3 - 2
9-120470866-G-T c.119G>T p.C40F Missense 2/3 - 5
9-120470867-C-A c.120C>A p.C40* Nonsense 2/3 - 1
9-120470867-C-T c.120C>T p.C40= Synonymous 2/3 - 1
9-120470868-A-C c.121A>C p.M41L Missense 2/3 - 1
9-120470868-A-G c.121A>G p.M41V Missense 2/3 - 1
9-120470868-A-T c.121A>T p.M41L Missense 2/3 - 1
9-120470868-AT-GA c.121_122delinsGA p.M41E Missense 2/3 - 1
9-120470869-TG-GC c.122_123delinsGC p.M41S Missense 2/3 - 1
9-120470871-GA-AG c.124_125delinsAG p.E42R Missense 2/3 - 1
9-120470871-GAG-TGT c.124_126delinsTGT p.E42C Missense 2/3 - 2
9-120470872-A-C c.125A>C p.E42A Missense 2/3 - 1
9-120470873-G-A c.126G>A p.E42= Synonymous 2/3 - 1
9-120470873-G-C c.126G>C p.E42D Missense 2/3 - 2
9-120470873-G-T c.126G>T p.E42D Missense 2/3 - 2
9-120470874-C-T c.127C>T p.L43= Synonymous 2/3 - 1
9-120470876-G-A c.129G>A p.L43= Synonymous 2/3 - 3
9-120470882-C-G c.135C>G p.F45L Missense 2/3 - 1
9-120470883-T-A c.136T>A p.Y46N Missense 2/3 - 1
9-120470884-A-G c.137A>G p.Y46C Missense 2/3 - 11
9-120470885-C-A c.138C>A p.Y46* Nonsense 2/3 - 1
9-120470885-C-G c.138C>G p.Y46* Nonsense 2/3 - 1
9-120470886-AA-GC c.139_140delinsGC p.K47A Missense 2/3 - 2
9-120470891-C-A c.144C>A p.I48= Synonymous 2/3 - 2
9-120470891-C-G c.144C>G p.I48M Missense 2/3 - 4
9-120470891-C-T c.144C>T p.I48= Synonymous 2/3 - 2
9-120470892-C-A c.145C>A p.P49T Missense 2/3 - 1
9-120470892-C-T c.145C>T p.P49S Missense 2/3 - 3
9-120470893-C-A c.146C>A p.P49H Missense 2/3 - 1
9-120470894-C-A c.147C>A p.P49= Synonymous 2/3 - 3
9-120470894-C-G c.147C>G p.P49= Synonymous 2/3 - 2
9-120470894-C-T c.147C>T p.P49= Synonymous 2/3 - 1
9-120470895-G-A c.148G>A p.D50N Missense 2/3 - 3
9-120470895-GA-AG c.148_149delinsAG p.D50S Missense 2/3 - 1
9-120470896-A-C c.149A>C p.D50A Missense 2/3 - 1
9-120470897-C-A c.150C>A p.D50E Missense 2/3 - 1
9-120470897-C-T c.150C>T p.D50= Synonymous 2/3 - 2
9-120470898-A-C c.151A>C p.N51H Missense 2/3 - 1
9-120470899-A-C c.152A>C p.N51T Missense 2/3 - 1
9-120470899-A-G c.152A>G p.N51S Missense 2/3 - 2
9-120470902-T-C c.155T>C p.L52P Missense 2/3 - 1
9-120470902-TCCC-T c.157_159del p.P53del InFrameDeletion 2/3 - 1
9-120470904-CC-AT c.157_158delinsAT p.P53I Missense 2/3 - 1
9-120470904-CCC-TAA c.157_159delinsTAA p.P53* Nonsense 2/3 - 1
9-120470904-CC-GG c.157_158inv p.P53G Missense 2/3 - 1
9-120470904-CC-TT c.157_158delinsTT p.P53F Missense 2/3 - 2
9-120470904-C-G c.157C>G p.P53A Missense 2/3 - 2
9-120470904-C-T c.157C>T p.P53S Missense 2/3 - 8
9-120470905-C-A c.158C>A p.P53H Missense 2/3 - 3
9-120470905-C-G c.158C>G p.P53R Missense 2/3 - 2
9-120470905-C-T c.158C>T p.P53L Missense 2/3 - 5
9-120470906-C-A c.159C>A p.P53= Synonymous 2/3 - 3
9-120470906-C-G c.159C>G p.P53= Synonymous 2/3 - 1
9-120470906-C-T c.159C>T p.P53= Synonymous 2/3 - 1
9-120470907-T-C c.160T>C p.F54L Missense 2/3 - 3
9-120470909-C-A c.162C>A p.F54L Missense 2/3 - 3
9-120470908-T-G c.161T>G p.F54C Missense 2/3 - 2
9-120470909-C-G c.162C>G p.F54L Missense 2/3 - 4
9-120470910-TCA-AAC c.163_165delinsAAC p.S55N Missense 2/3 - 3
9-120470911-C-T c.164C>T p.S55L Missense 2/3 - 1
9-120470914-C-T c.167C>T p.T56I Missense 2/3 - 1
9-120470916-A-G c.169A>G p.K57E Missense 2/3 - 2
9-120470918-G-A c.171G>A p.K57= Synonymous 2/3 - 1
9-120470918-G-C c.171G>C p.K57N Missense 2/3 - 1
9-120470918-G-T c.171G>T p.K57N Missense 2/3 - 1
9-120470919-A-C c.172A>C p.N58H Missense 2/3 - 1
9-120470920-A-T c.173A>T p.N58I Missense 2/3 - 2
9-120470921-C-A c.174C>A p.N58K Missense 2/3 - 2
9-120470921-C-G c.174C>G p.N58K Missense 2/3 - 2
9-120470921-C-T c.174C>T p.N58= Synonymous 2/3 - 1
9-120470923-T-A c.176T>A p.L59Q Missense 2/3 - 1
9-120470922-C-T c.175C>T p.L59= Synonymous 2/3 - 1
9-120470924-G-A c.177G>A p.L59= Synonymous 2/3 - 2
9-120470924-G-C c.177G>C p.L59= Synonymous 2/3 - 1
9-120470924-GG-AA c.177_178delinsAA p.D60N Missense 2/3 - 1
9-120470924-G-T c.177G>T p.L59= Synonymous 2/3 - 1
9-120470925-G-A c.178G>A p.D60N Missense 2/3 - 6
9-120470925-GAC-TGG c.178_180delinsTGG p.D60W Missense 2/3 - 1
9-120470926-A-C c.179A>C p.D60A Missense 2/3 - 1
9-120470927-C-A c.180C>A p.D60E Missense 2/3 - 3
9-120470927-C-G c.180C>G p.D60E Missense 2/3 - 3
9-120470929-T-G c.182T>G p.L61R Missense 2/3 - 1
9-120470930-G-A c.183G>A p.L61= Synonymous 2/3 - 1
9-120470931-AGC-GAG c.184_186delinsGAG p.S62E Missense 2/3 - 1
9-120470932-G-A c.185G>A p.S62N Missense 2/3 - 2
9-120470932-G-T c.185G>T p.S62I Missense 2/3 - 2
9-120470931-A-C c.184A>C p.S62R Missense 2/3 - 1
9-120470933-C-A c.186C>A p.S62R Missense 2/3 - 1
9-120470933-C-G c.186C>G p.S62R Missense 2/3 - 1
9-120470933-C-T c.186C>T p.S62= Synonymous 2/3 - 1
9-120470934-T-C c.187T>C p.F63L Missense 2/3 - 1
9-120470934-T-G c.187T>G p.F63V Missense 2/3 - 1
9-120470934-TTT-ATG c.187_189delinsATG p.F63M Missense 2/3 - 2
9-120470936-T-A c.189T>A p.F63L Missense 2/3 - 1
9-120470936-T-G c.189T>G p.F63L Missense 2/3 - 1
9-120470935-T-A c.188T>A p.F63Y Missense 2/3 - 1
9-120470935-TT-GG c.188_189delinsGG p.F63W Missense 2/3 - 2
9-120470936-T-C c.189T>C p.F63= Synonymous 2/3 - 1
9-120470938-A-G c.191A>G p.N64S Missense 2/3 - 1
9-120470940-C-A c.193C>A p.P65T Missense 2/3 - 2
9-120470940-CC-AA c.193_194delinsAA p.P65N Missense 2/3 - 1
9-120470940-CCC-ATG c.193_195delinsATG p.P65M Missense 2/3 - 1
9-120470940-CCC-TAA c.193_195delinsTAA p.P65* Nonsense 2/3 - 1
9-120470940-CC-GA c.193_194delinsGA p.P65D Missense 2/3 - 1
9-120470940-CC-TG c.193_194delinsTG p.P65C Missense 2/3 - 1
9-120470940-CC-TT c.193_194delinsTT p.P65F Missense 2/3 - 1
9-120470940-C-G c.193C>G p.P65A Missense 2/3 - 2
9-120470940-C-T c.193C>T p.P65S Missense 2/3 - 4
9-120470941-C-T c.194C>T p.P65L Missense 2/3 - 6
9-120470942-C-A c.195C>A p.P65= Synonymous 2/3 - 5
9-120470942-C-G c.195C>G p.P65= Synonymous 2/3 - 5
9-120470942-C-T c.195C>T p.P65= Synonymous 2/3 - 5
9-120470943-C-A c.196C>A p.L66M Missense 2/3 - 1
9-120470943-C-T c.196C>T p.L66= Synonymous 2/3 - 2
9-120470943-CT-GC c.196_197delinsGC p.L66A Missense 2/3 - 1
9-120470944-T-A c.197T>A p.L66Q Missense 2/3 - 1
9-120470944-T-C c.197T>C p.L66P Missense 2/3 - 1
9-120470945-G-A c.198G>A p.L66= Synonymous 2/3 - 1
9-120470945-G-C c.198G>C p.L66= Synonymous 2/3 - 1
9-120470945-G-T c.198G>T p.L66= Synonymous 2/3 - 1
9-120470947-G-A c.200G>A p.R67K Missense 2/3 - 1
9-120470954-A-C c.207A>C p.L69F Missense 2/3 - 2
9-120470954-A-T c.207A>T p.L69F Missense 2/3 - 2
9-120470955-G-T c.208G>T p.G70C Missense 2/3 - 1
9-120470956-G-T c.209G>T p.G70V Missense 2/3 - 1
9-120470957-C-A c.210C>A p.G70= Synonymous 2/3 - 1
9-120470957-C-G c.210C>G p.G70= Synonymous 2/3 - 1
9-120470957-C-T c.210C>T p.G70= Synonymous 2/3 - 1
9-120470958-AGC-GAG c.211_213delinsGAG p.S71E Missense 2/3 - 1
9-120470959-G-A c.212G>A p.S71N Missense 2/3 - 3
9-120470959-G-T c.212G>T p.S71I Missense 2/3 - 1
9-120470960-C-A c.213C>A p.S71R Missense 2/3 - 1
9-120470963-T-A c.216T>A p.Y72* Nonsense 2/3 - 1
9-120470963-T-G c.216T>G p.Y72* Nonsense 2/3 - 1
9-120470964-AG-CT c.217_218inv p.S73L Missense 2/3 - 1
9-120470964-AG-GC c.217_218delinsGC p.S73A Missense 2/3 - 2
9-120470964-A-C c.217A>C p.S73R Missense 2/3 - 3
9-120470966-C-A c.219C>A p.S73R Missense 2/3 - 3
9-120470966-C-G c.219C>G p.S73R Missense 2/3 - 7
9-120470966-C-T c.219C>T p.S73= Synonymous 2/3 - 1
9-120470969-C-A c.222C>A p.F74L Missense 2/3 - 1
9-120470970-T-C c.223T>C p.F75L Missense 2/3 - 1
9-120470972-C-T c.225C>T p.F75= Synonymous 2/3 - 1
9-120470973-A-G c.226A>G p.S76G Missense 2/3 - 1
9-120470974-AGTT-A c.227_229del p.S76_F77delinsI MultiAAMissense 2/3 - 1
9-120470974-G-T c.227G>T p.S76I Missense 2/3 - 1
9-120470973-A-C c.226A>C p.S76R Missense 2/3 - 1
9-120470975-T-A c.228T>A p.S76R Missense 2/3 - 1
9-120470975-T-G c.228T>G p.S76R Missense 2/3 - 1
9-120470976-TT-GA c.229_230delinsGA p.F77D Missense 2/3 - 1
9-120470978-C-T c.231C>T p.F77= Synonymous 2/3 - 3
9-120470980-C-T c.233C>T p.P78L Missense 2/3 - 1
9-120470982-G-A c.235G>A p.E79K Missense 2/3 - 4
9-120470982-GAA-TGT c.235_237delinsTGT p.E79C Missense 2/3 - 1
9-120470982-G-C c.235G>C p.E79Q Missense 2/3 - 1
9-120470984-A-G c.237A>G p.E79= Synonymous 2/3 - 2
9-120470985-C-A c.238C>A p.L80M Missense 2/3 - 2
9-120470986-T-C c.239T>C p.L80P Missense 2/3 - 2
9-120470987-G-T c.240G>T p.L80= Synonymous 2/3 - 1
9-120470989-A-T c.242A>T p.Q81L Missense 2/3 - 1
9-120470990-G-T c.243G>T p.Q81H Missense 2/3 - 1
9-120470991-GTG-AAC c.244_246delinsAAC p.V82N Missense 2/3 - 1
9-120470991-GTG-ATC c.244_246delinsATC p.V82I Missense 2/3 - 1
9-120470991-GTG-TTT c.244_246delinsTTT p.V82F Missense 2/3 - 1
9-120470992-T-A c.245T>A p.V82E Missense 2/3 - 1
9-120470992-T-C c.245T>C p.V82A Missense 2/3 - 6
9-120470993-G-A c.246G>A p.V82= Synonymous 2/3 - 2
9-120470993-G-C c.246G>C p.V82= Synonymous 2/3 - 1
9-120470994-CT-TC c.247_248delinsTC p.L83S Missense 2/3 - 2
9-120470995-T-A c.248T>A p.L83Q Missense 2/3 - 1
9-120470997-G-A c.250G>A p.D84N Missense 2/3 - 5
9-120470997-G-C c.250G>C p.D84H Missense 2/3 - 1
9-120470998-A-C c.251A>C p.D84A Missense 2/3 - 1
9-120470998-A-G c.251A>G p.D84G Missense 2/3 - 1
9-120470999-ATTTATCCAGGTAATGAATC-A c.252_260+10del - SpliceDonorDeletion 2/3 2/2 1
9-120470999-T-C c.252T>C p.D84= Synonymous 2/3 - 1
9-120471003-TC-CT c.256_257delinsCT p.S86L Missense 2/3 - 3
9-120471003-TC-GG c.256_257delinsGG p.S86G Missense 2/3 - 1
9-120471004-CC-AA c.257_258delinsAA p.S86* Nonsense 2/3 - 1
9-120471004-C-G c.257C>G p.S86C Missense 2/3 - 1
9-120471004-C-T c.257C>T p.S86F Missense 2/3 - 1
9-120471005-C-T c.258C>T p.S86= Synonymous 2/3 - 1
9-120471006-A-T c.259A>T p.R87W Missense 2/3 - 2
9-120471008-G-T c.260+1G>T - IntronicSNV - 2/2 1
9-120471058-G-A c.260+51G>A - IntronicSNV - 2/2 7
9-120471553-C-A c.260+546C>A - IntronicSNV - 2/2 12
9-120472211-A-C c.260+1204A>C - IntronicSNV - 2/2 19
9-120472211-A-G c.260+1204A>G - IntronicSNV - 2/2 19
9-120472211-A-T c.260+1204A>T - IntronicSNV - 2/2 19
9-120472262-A-G c.260+1255A>G - IntronicSNV - 2/2 1
9-120472730-T-A c.260+1723T>A - IntronicSNV - 2/2 33
9-120472730-T-C c.260+1723T>C - IntronicSNV - 2/2 33
9-120472731-T-C c.260+1724T>C - IntronicSNV - 2/2 1
9-120472764-C-T c.260+1757C>T - IntronicSNV - 2/2 37
9-120473180-C-T c.261-1487C>T - IntronicSNV - 2/2 1
9-120473338-T-C c.261-1329T>C - IntronicSNV - 2/2 8
9-120473834-A-G c.261-833A>G - IntronicSNV - 2/2 22
9-120473867-T-G c.261-800T>G - IntronicSNV - 2/2 3
9-120474199-T-G c.261-468T>G - IntronicSNV - 2/2 63
9-120474282-G-A c.261-385G>A - IntronicSNV - 2/2 39
9-120474282-G-T c.261-385G>T - IntronicSNV - 2/2 39
9-120474339-A-G c.261-328A>G - IntronicSNV - 2/2 2
9-120474667-G-A c.261G>A p.R87= Synonymous 3/3 - 1
9-120474668-T-C c.262T>C p.C88R Missense 3/3 - 2
9-120474668-TG-GA c.262_263delinsGA p.C88D Missense 3/3 - 1
9-120474670-T-G c.264T>G p.C88W Missense 3/3 - 1
9-120474671-G-A c.265G>A p.E89K Missense 3/3 - 7
9-120474672-A-G c.266A>G p.E89G Missense 3/3 - 1
9-120474673-A-G c.267A>G p.E89= Synonymous 3/3 - 1
9-120474674-A-G c.268A>G p.I90V Missense 3/3 - 1
9-120474675-T-A c.269T>A p.I90N Missense 3/3 - 2
9-120474675-T-C c.269T>C p.I90T Missense 3/3 - 1
9-120474676-C-A c.270C>A p.I90= Synonymous 3/3 - 1
9-120474676-C-T c.270C>T p.I90= Synonymous 3/3 - 1
9-120474677-C-T c.271C>T p.Q91* Nonsense 3/3 - 1
9-120474678-A-G c.272A>G p.Q91R Missense 3/3 - 2
9-120474679-G-C c.273G>C p.Q91H Missense 3/3 - 1
9-120474680-ACA-TAT c.274_276delinsTAT p.T92Y Missense 3/3 - 1
9-120474680-ACA-TGT c.274_276inv p.T92C Missense 3/3 - 1
9-120474680-AC-GG c.274_275delinsGG p.T92G Missense 3/3 - 1
9-120474680-A-G c.274A>G p.T92A Missense 3/3 - 1
9-120474681-C-T c.275C>T p.T92I Missense 3/3 - 1
9-120474683-A-G c.277A>G p.I93V Missense 3/3 - 2
9-120474684-T-C c.278T>C p.I93T Missense 3/3 - 1
9-120474686-G-A c.280G>A p.E94K Missense 3/3 - 9
9-120474686-G-T c.280G>T p.E94* Nonsense 3/3 - 1
9-120474687-A-C c.281A>C p.E94A Missense 3/3 - 2
9-120474688-A-C c.282A>C p.E94D Missense 3/3 - 6
9-120474688-A-G c.282A>G p.E94= Synonymous 3/3 - 1
9-120474688-A-T c.282A>T p.E94D Missense 3/3 - 2
9-120474689-G-A c.283G>A p.D95N Missense 3/3 - 2
9-120474689-G-T c.283G>T p.D95Y Missense 3/3 - 7
9-120474691-T-C c.285T>C p.D95= Synonymous 3/3 - 2
9-120474692-G-C c.286G>C p.G96R Missense 3/3 - 1
9-120474692-GG-AA c.286_287delinsAA p.G96K Missense 3/3 - 1
9-120474693-G-A c.287G>A p.G96E Missense 3/3 - 1
9-120474695-GCA-TGT c.289_291delinsTGT p.A97C Missense 3/3 - 1
9-120474695-GCA-TTT c.289_291delinsTTT p.A97F Missense 3/3 - 1
9-120474696-C-A c.290C>A p.A97E Missense 3/3 - 4
9-120474696-C-T c.290C>T p.A97V Missense 3/3 - 3
9-120474697-A-C c.291A>C p.A97= Synonymous 3/3 - 2
9-120474697-A-G c.291A>G p.A97= Synonymous 3/3 - 2
9-120474697-A-T c.291A>T p.A97= Synonymous 3/3 - 2
9-120474699-A-G c.293A>G p.Y98C Missense 3/3 - 1
9-120474699-A-T c.293A>T p.Y98F Missense 3/3 - 1
9-120474701-C-T c.295C>T p.Q99* Nonsense 3/3 - 1
9-120474702-A-G c.296A>G p.Q99R Missense 3/3 - 1
9-120474703-G-C c.297G>C p.Q99H Missense 3/3 - 1
9-120474704-A-C c.298A>C p.S100R Missense 3/3 - 1
9-120474704-A-G c.298A>G p.S100G Missense 3/3 - 15
9-120474704-AG-CC c.298_299delinsCC p.S100P Missense 3/3 - 54
9-120474704-AG-CT c.298_299inv p.S100L Missense 3/3 - 1
9-120474704-AG-GC c.298_299delinsGC p.S100A Missense 3/3 - 96
9-120474704-AG-TT c.298_299delinsTT p.S100F Missense 3/3 - 1
9-120474704-A-T c.298A>T p.S100C Missense 3/3 - 6
9-120474705-G-T c.299G>T p.S100I Missense 3/3 - 1
9-120474706-C-A c.300C>A p.S100R Missense 3/3 - 1
9-120474706-C-T c.300C>T p.S100= Synonymous 3/3 - 24
9-120474708-T-C c.302T>C p.L101P Missense 3/3 - 1
9-120474707-C-T c.301C>T p.L101= Synonymous 3/3 - 1
9-120474709-A-C c.303A>C p.L101= Synonymous 3/3 - 1
9-120474709-A-G c.303A>G p.L101= Synonymous 3/3 - 1
9-120474709-A-T c.303A>T p.L101= Synonymous 3/3 - 1
9-120474710-A-G c.304A>G p.S102G Missense 3/3 - 3
9-120474711-G-A c.305G>A p.S102N Missense 3/3 - 1
9-120474712-C-T c.306C>T p.S102= Synonymous 3/3 - 2
9-120474713-C-T c.307C>T p.H103Y Missense 3/3 - 1
9-120474716-C-A c.310C>A p.L104I Missense 3/3 - 1
9-120474716-C-T c.310C>T p.L104F Missense 3/3 - 2
9-120474719-TC-CT c.313_314delinsCT p.S105L Missense 3/3 - 1
9-120474720-C-A c.314C>A p.S105Y Missense 3/3 - 1
9-120474720-C-T c.314C>T p.S105F Missense 3/3 - 1
9-120474721-T-A c.315T>A p.S105= Synonymous 3/3 - 1
9-120474721-T-C c.315T>C p.S105= Synonymous 3/3 - 16
9-120474721-T-G c.315T>G p.S105= Synonymous 3/3 - 1
9-120474722-A-G c.316A>G p.T106A Missense 3/3 - 1
9-120474723-CC-TG c.317_318delinsTG p.T106M Missense 3/3 - 2
9-120474723-C-T c.317C>T p.T106I Missense 3/3 - 1
9-120474724-C-T c.318C>T p.T106= Synonymous 3/3 - 1
9-120474725-T-C c.319T>C p.L107= Synonymous 3/3 - 1
9-120474727-A-G c.321A>G p.L107= Synonymous 3/3 - 1
9-120474728-A-G c.322A>G p.I108V Missense 3/3 - 3
9-120474734-A-G c.328A>G p.T110A Missense 3/3 - 1
9-120474737-G-A c.331G>A p.G111R Missense 3/3 - 1
9-120474737-G-C c.331G>C p.G111R Missense 3/3 - 1
9-120474737-G-T c.331G>T p.G111* Nonsense 3/3 - 4
9-120474738-G-A c.332G>A p.G111E Missense 3/3 - 12
9-120474738-G-C c.332G>C p.G111A Missense 3/3 - 3
9-120474741-A-G c.335A>G p.N112S Missense 3/3 - 3
9-120474743-C-A c.337C>A p.P113T Missense 3/3 - 5
9-120474743-C-T c.337C>T p.P113S Missense 3/3 - 1
9-120474744-C-A c.338C>A p.P113H Missense 3/3 - 3
9-120474744-C-T c.338C>T p.P113L Missense 3/3 - 2
9-120474745-C-A c.339C>A p.P113= Synonymous 3/3 - 1
9-120474745-C-T c.339C>T p.P113= Synonymous 3/3 - 3
9-120474748-C-A c.342C>A p.I114= Synonymous 3/3 - 1
9-120474748-C-G c.342C>G p.I114M Missense 3/3 - 3
9-120474748-C-T c.342C>T p.I114= Synonymous 3/3 - 1
9-120474751-G-C c.345G>C p.Q115H Missense 3/3 - 2
9-120474751-G-T c.345G>T p.Q115H Missense 3/3 - 3
9-120474751-G-GA c.346dup p.S116Kfs*41 Frameshift 3/3 - 1
9-120474752-AGT-CAA c.346_348delinsCAA p.S116Q Missense 3/3 - 1
9-120474752-AGT-GAG c.346_348delinsGAG p.S116E Missense 3/3 - 1
9-120474756-T-G c.350T>G p.L117* Nonsense 3/3 - 1
9-120474758-G-A c.352G>A p.A118T Missense 3/3 - 1
9-120474759-C-G c.353C>G p.A118G Missense 3/3 - 14
9-120474762-T-C c.356T>C p.L119P Missense 3/3 - 1
9-120474763-TGGG-T c.357_359del p.G120del InFrameDeletion 3/3 - 1
9-120474764-G-A c.358G>A p.G120R Missense 3/3 - 2
9-120474767-G-T c.361G>T p.A121S Missense 3/3 - 2
9-120474768-C-A c.362C>A p.A121D Missense 3/3 - 3
9-120474768-C-T c.362C>T p.A121V Missense 3/3 - 1
9-120474770-T-C c.364T>C p.F122L Missense 3/3 - 1
9-120474770-TT-GC c.364_365delinsGC p.F122A Missense 3/3 - 1
9-120474770-TT-GG c.364_365delinsGG p.F122G Missense 3/3 - 1
9-120474774-C-A c.368C>A p.S123Y Missense 3/3 - 1
9-120474779-C-G c.373C>G p.L125V Missense 3/3 - 1
9-120474779-CT-AA c.373_374delinsAA p.L125K Missense 3/3 - 3
9-120474782-TC-AT c.376_377delinsAT p.S126I Missense 3/3 - 1
9-120474783-C-A c.377C>A p.S126* Nonsense 3/3 - 6
9-120474783-C-G c.377C>G p.S126* Nonsense 3/3 - 7
9-120474783-C-T c.377C>T p.S126L Missense 3/3 - 10
9-120474784-A-C c.378A>C p.S126= Synonymous 3/3 - 1
9-120474785-A-G c.379A>G p.S127G Missense 3/3 - 1
9-120474785-AG-GC c.379_380delinsGC p.S127A Missense 3/3 - 3
9-120474786-G-A c.380G>A p.S127N Missense 3/3 - 1
9-120474787-T-C c.381T>C p.S127= Synonymous 3/3 - 1
9-120474791-C-A c.385C>A p.Q129K Missense 3/3 - 1
9-120474793-G-C c.387G>C p.Q129H Missense 3/3 - 1
9-120474793-G-T c.387G>T p.Q129H Missense 3/3 - 1
9-120474795-A-C c.389A>C p.K130T Missense 3/3 - 1
9-120474795-A-G c.389A>G p.K130R Missense 3/3 - 1
9-120474797-C-T c.391C>T p.L131= Synonymous 3/3 - 1
9-120474799-G-A c.393G>A p.L131= Synonymous 3/3 - 1
9-120474799-G-C c.393G>C p.L131= Synonymous 3/3 - 1
9-120474799-G-T c.393G>T p.L131= Synonymous 3/3 - 1
9-120474800-G-C c.394G>C p.V132L Missense 3/3 - 1
9-120474800-G-T c.394G>T p.V132L Missense 3/3 - 1
9-120474800-GTG-TTT c.394_396delinsTTT p.V132F Missense 3/3 - 1
9-120474806-G-A c.400G>A p.V134M Missense 3/3 - 4
9-120474806-G-C c.400G>C p.V134L Missense 3/3 - 2
9-120474806-G-T c.400G>T p.V134L Missense 3/3 - 2
9-120474806-GTG-ATC c.400_402delinsATC p.V134I Missense 3/3 - 1
9-120474807-T-G c.401T>G p.V134G Missense 3/3 - 1
9-120474808-G-A c.402G>A p.V134= Synonymous 3/3 - 3
9-120474809-G-A c.403G>A p.E135K Missense 3/3 - 2
9-120474809-G-C c.403G>C p.E135Q Missense 3/3 - 1
9-120474812-A-T c.406A>T p.T136S Missense 3/3 - 1
9-120474815-AA-GC c.409_410delinsGC p.N137A Missense 3/3 - 1
9-120474813-C-CA c.410dup p.N137Kfs*20 Frameshift 3/3 - 1
9-120474816-A-G c.410A>G p.N137S Missense 3/3 - 1
9-120474818-C-G c.412C>G p.L138V Missense 3/3 - 1
9-120474819-T-C c.413T>C p.L138P Missense 3/3 - 2
9-120474819-T-G c.413T>G p.L138R Missense 3/3 - 1
9-120474818-C-T c.412C>T p.L138= Synonymous 3/3 - 1
9-120474820-A-C c.414A>C p.L138= Synonymous 3/3 - 1
9-120474820-A-G c.414A>G p.L138= Synonymous 3/3 - 1
9-120474820-A-T c.414A>T p.L138= Synonymous 3/3 - 1
9-120474822-C-G c.416C>G p.A139G Missense 3/3 - 1
9-120474822-C-T c.416C>T p.A139V Missense 3/3 - 1
9-120474825-C-T c.419C>T p.S140F Missense 3/3 - 1
9-120474827-C-T c.421C>T p.L141= Synonymous 3/3 - 1
9-120474827-CTA-ATG c.421_423delinsATG p.L141M Missense 3/3 - 1
9-120474828-T-C c.422T>C p.L141P Missense 3/3 - 1
9-120474830-G-A c.424G>A p.E142K Missense 3/3 - 4
9-120474830-G-T c.424G>T p.E142* Nonsense 3/3 - 2
9-120474834-A-G c.428A>G p.N143S Missense 3/3 - 1
9-120474837-T-C c.431T>C p.F144S Missense 3/3 - 2
9-120474838-C-T c.432C>T p.F144= Synonymous 3/3 - 3
9-120474840-C-A c.434C>A p.P145H Missense 3/3 - 1
9-120474840-C-T c.434C>T p.P145L Missense 3/3 - 1
9-120474841-C-A c.435C>A p.P145= Synonymous 3/3 - 5
9-120474841-C-G c.435C>G p.P145= Synonymous 3/3 - 2
9-120474841-C-T c.435C>T p.P145= Synonymous 3/3 - 5
9-120474842-AT-GC c.436_437delinsGC p.I146A Missense 3/3 - 1
9-120474845-G-A c.439G>A p.G147R Missense 3/3 - 1
9-120474846-G-C c.440G>C p.G147A Missense 3/3 - 2
9-120474847-A-C c.441A>C p.G147= Synonymous 3/3 - 1
9-120474847-A-G c.441A>G p.G147= Synonymous 3/3 - 1
9-120474847-A-T c.441A>T p.G147= Synonymous 3/3 - 1
9-120474848-CA-GG c.442_443delinsGG p.H148G Missense 3/3 - 1
9-120474848-C-G c.442C>G p.H148D Missense 3/3 - 1
9-120474848-C-T c.442C>T p.H148Y Missense 3/3 - 1
9-120474849-A-G c.443A>G p.H148R Missense 3/3 - 1
9-120474850-T-A c.444T>A p.H148Q Missense 3/3 - 1
9-120474850-T-G c.444T>G p.H148Q Missense 3/3 - 1
9-120474851-C-T c.445C>T p.L149F Missense 3/3 - 6
9-120474852-T-A c.446T>A p.L149H Missense 3/3 - 1
9-120474852-T-C c.446T>C p.L149P Missense 3/3 - 1
9-120474853-C-A c.447C>A p.L149= Synonymous 3/3 - 2
9-120474853-C-G c.447C>G p.L149= Synonymous 3/3 - 2
9-120474853-C-T c.447C>T p.L149= Synonymous 3/3 - 2
9-120474854-A-G c.448A>G p.K150E Missense 3/3 - 2
9-120474856-A-C c.450A>C p.K150N Missense 3/3 - 4
9-120474856-A-T c.450A>T p.K150N Missense 3/3 - 2
9-120474857-AC-TA c.451_452delinsTA p.T151Y Missense 3/3 - 2
9-120474857-A-G c.451A>G p.T151A Missense 3/3 - 1
9-120474857-A-T c.451A>T p.T151S Missense 3/3 - 3
9-120474858-C-A c.452C>A p.T151N Missense 3/3 - 3
9-120474858-C-G c.452C>G p.T151S Missense 3/3 - 1
9-120474858-C-T c.452C>T p.T151I Missense 3/3 - 1
9-120474860-T-G c.454T>G p.L152V Missense 3/3 - 1
9-120474866-G-A c.460G>A p.E154K Missense 3/3 - 5
9-120474866-G-C c.460G>C p.E154Q Missense 3/3 - 1
9-120474869-CT-GG c.463_464delinsGG p.L155G Missense 3/3 - 1
9-120474872-A-G c.466A>G p.N156D Missense 3/3 - 1
9-120474873-A-G c.467A>G p.N156S Missense 3/3 - 1
9-120474873-A-T c.467A>T p.N156I Missense 3/3 - 1
9-120474875-G-A c.469G>A p.V157M Missense 3/3 - 1
9-120474875-GTG-TTT c.469_471delinsTTT p.V157F Missense 3/3 - 1
9-120474876-T-G c.470T>G p.V157G Missense 3/3 - 1
9-120474879-C-A c.473C>A p.A158D Missense 3/3 - 1
9-120474879-C-G c.473C>G p.A158G Missense 3/3 - 1
9-120474881-C-T c.475C>T p.H159Y Missense 3/3 - 2
9-120474882-A-C c.476A>C p.H159P Missense 3/3 - 1
9-120474883-C-A c.477C>A p.H159Q Missense 3/3 - 2
9-120474883-C-G c.477C>G p.H159Q Missense 3/3 - 2
9-120474884-A-T c.478A>T p.N160Y Missense 3/3 - 1
9-120474885-A-C c.479A>C p.N160T Missense 3/3 - 1
9-120474885-A-G c.479A>G p.N160S Missense 3/3 - 1
9-120474886-T-A c.480T>A p.N160K Missense 3/3 - 1
9-120474886-T-G c.480T>G p.N160K Missense 3/3 - 1
9-120474887-C-G c.481C>G p.L161V Missense 3/3 - 1
9-120474887-C-T c.481C>T p.L161F Missense 3/3 - 1
9-120474888-T-C c.482T>C p.L161P Missense 3/3 - 2
9-120474888-T-G c.482T>G p.L161R Missense 3/3 - 1
9-120474891-T-C c.485T>C p.I162T Missense 3/3 - 1
9-120474891-T-G c.485T>G p.I162S Missense 3/3 - 1
9-120474892-C-T c.486C>T p.I162= Synonymous 3/3 - 1
9-120474893-CA-GC c.487_488delinsGC p.Q163A Missense 3/3 - 1
9-120474895-A-C c.489A>C p.Q163H Missense 3/3 - 1
9-120474895-A-G c.489A>G p.Q163= Synonymous 3/3 - 1
9-120474895-A-T c.489A>T p.Q163H Missense 3/3 - 1
9-120474896-TC-AT c.490_491delinsAT p.S164I Missense 3/3 - 1
9-120474896-T-G c.490T>G p.S164A Missense 3/3 - 1
9-120474897-C-A c.491C>A p.S164Y Missense 3/3 - 1
9-120474897-C-G c.491C>G p.S164C Missense 3/3 - 1
9-120474901-C-A c.495C>A p.F165L Missense 3/3 - 1
9-120474901-C-T c.495C>T p.F165= Synonymous 3/3 - 2
9-120474902-AA-CC c.496_497delinsCC p.K166P Missense 3/3 - 1
9-120474902-A-C c.496A>C p.K166Q Missense 3/3 - 1
9-120474903-A-C c.497A>C p.K166T Missense 3/3 - 2
9-120474903-A-G c.497A>G p.K166R Missense 3/3 - 1
9-120474905-TT-GC c.499_500delinsGC p.L167A Missense 3/3 - 1
9-120474906-T-C c.500T>C p.L167S Missense 3/3 - 2
9-120474907-A-T c.501A>T p.L167F Missense 3/3 - 1
9-120474908-CCT-TAA c.502_504delinsTAA p.P168* Nonsense 3/3 - 1
9-120474908-C-G c.502C>G p.P168A Missense 3/3 - 1
9-120474908-C-T c.502C>T p.P168S Missense 3/3 - 2
9-120474909-C-T c.503C>T p.P168L Missense 3/3 - 2
9-120474910-T-A c.504T>A p.P168= Synonymous 3/3 - 2
9-120474910-T-C c.504T>C p.P168= Synonymous 3/3 - 3
9-120474910-T-G c.504T>G p.P168= Synonymous 3/3 - 2
9-120474911-G-A c.505G>A p.E169K Missense 3/3 - 2
9-120474911-G-C c.505G>C p.E169Q Missense 3/3 - 2
9-120474911-G-T c.505G>T p.E169* Nonsense 3/3 - 1
9-120474912-A-C c.506A>C p.E169A Missense 3/3 - 2
9-120474912-A-T c.506A>T p.E169V Missense 3/3 - 2
9-120474913-G-A c.507G>A p.E169= Synonymous 3/3 - 1
9-120474915-A-T c.509A>T p.Y170F Missense 3/3 - 1
9-120474916-T-C c.510T>C p.Y170= Synonymous 3/3 - 1
9-120474915-A-AT c.514dup p.S172Ffs*2 Frameshift 3/3 - 1
9-120474920-T-A c.514T>A p.S172T Missense 3/3 - 1
9-120474921-C-T c.515C>T p.S172F Missense 3/3 - 2
9-120474923-AA-GC c.517_518delinsGC p.N173A Missense 3/3 - 2
9-120474923-A-G c.517A>G p.N173D Missense 3/3 - 2
9-120474926-CT-AC c.520_521delinsAC p.L174T Missense 3/3 - 1
9-120474929-A-G c.523A>G p.T175A Missense 3/3 - 6
9-120474930-C-A c.524C>A p.T175N Missense 3/3 - 1
9-120474930-CC-TG c.524_525delinsTG p.T175M Missense 3/3 - 1
9-120474930-C-T c.524C>T p.T175I Missense 3/3 - 1
9-120474931-C-CT c.525_526insT p.N176* Nonsense 3/3 - 1
9-120474931-C-CTTCA c.525_526insTTCA p.N176Ffs*50 Frameshift 3/3 - 1
9-120474927-TGACCAATCTAGAGCACTTG-T c.526_544del p.N176Ffs*27 Frameshift 3/3 - 1
9-120474932-A-G c.526A>G p.N176D Missense 3/3 - 1
9-120474931-C-CA c.527dup p.N176Kfs*49 Frameshift 3/3 - 1
9-120474933-A-C c.527A>C p.N176T Missense 3/3 - 1
9-120474933-A-T c.527A>T p.N176I Missense 3/3 - 1
9-120474935-CTA-TTT c.529_531delinsTTT p.L177F Missense 3/3 - 1
9-120474936-T-C c.530T>C p.L177P Missense 3/3 - 1
9-120474942-A-T c.536A>T p.H179L Missense 3/3 - 2
9-120474944-T-C c.538T>C p.L180= Synonymous 3/3 - 3
9-120474946-G-A c.540G>A p.L180= Synonymous 3/3 - 3
9-120474945-T-C c.539T>C p.L180S Missense 3/3 - 2
9-120474947-G-C c.541G>C p.D181H Missense 3/3 - 1
9-120474947-G-T c.541G>T p.D181Y Missense 3/3 - 1
9-120474949-C-A c.543C>A p.D181E Missense 3/3 - 1
9-120474949-C-G c.543C>G p.D181E Missense 3/3 - 1
9-120474949-C-T c.543C>T p.D181= Synonymous 3/3 - 4
9-120474950-C-T c.544C>T p.L182F Missense 3/3 - 4
9-120474950-CT-GC c.544_545delinsGC p.L182A Missense 3/3 - 1
9-120474951-T-A c.545T>A p.L182H Missense 3/3 - 1
9-120474953-TC-AT c.547_548delinsAT p.S183I Missense 3/3 - 1
9-120474953-T-G c.547T>G p.S183A Missense 3/3 - 1
9-120474954-C-A c.548C>A p.S183Y Missense 3/3 - 1
9-120474954-C-T c.548C>T p.S183F Missense 3/3 - 7
9-120474956-A-G c.550A>G p.S184G Missense 3/3 - 1
9-120474956-AG-GC c.550_551delinsGC p.S184A Missense 3/3 - 1
9-120474956-A-T c.550A>T p.S184C Missense 3/3 - 1
9-120474957-GC-AG c.551_552delinsAG p.S184K Missense 3/3 - 1
9-120474956-A-C c.550A>C p.S184R Missense 3/3 - 2
9-120474958-C-A c.552C>A p.S184R Missense 3/3 - 2
9-120474958-C-G c.552C>G p.S184R Missense 3/3 - 2
9-120474959-A-C c.553A>C p.N185H Missense 3/3 - 1
9-120474964-G-C c.558G>C p.K186N Missense 3/3 - 4
9-120474964-G-T c.558G>T p.K186N Missense 3/3 - 3
9-120474967-T-G c.561T>G p.I187M Missense 3/3 - 6
9-120474969-A-G c.563A>G p.Q188R Missense 3/3 - 2
9-120474969-A-T c.563A>T p.Q188L Missense 3/3 - 1
9-120474971-AGT-GAG c.565_567delinsGAG p.S189E Missense 3/3 - 1
9-120474971-A-T c.565A>T p.S189C Missense 3/3 - 1
9-120474972-G-A c.566G>A p.S189N Missense 3/3 - 1
9-120474972-G-T c.566G>T p.S189I Missense 3/3 - 2
9-120474974-A-T c.568A>T p.I190F Missense 3/3 - 1
9-120474975-T-G c.569T>G p.I190S Missense 3/3 - 4
9-120474977-T-C c.571T>C p.Y191H Missense 3/3 - 1
9-120474980-TG-GC c.574_575delinsGC p.C192A Missense 3/3 - 2
9-120474984-C-A c.578C>A p.T193K Missense 3/3 - 2
9-120474984-CA-AC c.578_579delinsAC p.T193N Missense 3/3 - 1
9-120474984-C-T c.578C>T p.T193I Missense 3/3 - 1
9-120474985-A-C c.579A>C p.T193= Synonymous 3/3 - 1
9-120474986-G-A c.580G>A p.D194N Missense 3/3 - 1
9-120474986-G-T c.580G>T p.D194Y Missense 3/3 - 1
9-120474988-C-A c.582C>A p.D194E Missense 3/3 - 4
9-120474988-C-G c.582C>G p.D194E Missense 3/3 - 4
9-120474989-T-G c.583T>G p.L195V Missense 3/3 - 3
9-120474992-CG-GC c.586_587delinsGC p.R196A Missense 3/3 - 10
9-120474992-CGG-TGT c.586_588delinsTGT p.R196C Missense 3/3 - 13
9-120474992-C-T c.586C>T p.R196W Missense 3/3 - 3
9-120474993-G-A c.587G>A p.R196Q Missense 3/3 - 5
9-120474993-G-T c.587G>T p.R196L Missense 3/3 - 1
9-120474995-G-A c.589G>A p.V197I Missense 3/3 - 6
9-120474995-GTT-ATG c.589_591delinsATG p.V197M Missense 3/3 - 4
9-120474996-T-A c.590T>A p.V197D Missense 3/3 - 1
9-120474996-T-C c.590T>C p.V197A Missense 3/3 - 1
9-120474999-TA-AT c.593_594delinsAT p.L198H Missense 3/3 - 1
9-120475004-C-A c.598C>A p.Q200K Missense 3/3 - 1
9-120475004-C-G c.598C>G p.Q200E Missense 3/3 - 1
9-120475004-C-T c.598C>T p.Q200* Nonsense 3/3 - 5
9-120475005-A-T c.599A>T p.Q200L Missense 3/3 - 1
9-120475008-T-C c.602T>C p.M201T Missense 3/3 - 1
9-120475010-C-A c.604C>A p.P202T Missense 3/3 - 1
9-120475010-C-G c.604C>G p.P202A Missense 3/3 - 3
9-120475011-C-T c.605C>T p.P202L Missense 3/3 - 2
9-120475013-C-T c.607C>T p.L203= Synonymous 3/3 - 1
9-120475013-CTA-TTT c.607_609delinsTTT p.L203F Missense 3/3 - 1
9-120475019-AA-GC c.613_614delinsGC p.N205A Missense 3/3 - 1
9-120475020-A-G c.614A>G p.N205S Missense 3/3 - 1
9-120475026-C-G c.620C>G p.S207C Missense 3/3 - 1
9-120475026-C-T c.620C>T p.S207F Missense 3/3 - 2
9-120475028-TT-GC c.622_623delinsGC p.L208A Missense 3/3 - 1
9-120475031-G-T c.625G>T p.D209Y Missense 3/3 - 1
9-120475032-A-AC c.628dup p.L210Pfs*15 Frameshift 3/3 - 1
9-120475034-C-A c.628C>A p.L210M Missense 3/3 - 4
9-120475034-C-T c.628C>T p.L210= Synonymous 3/3 - 2
9-120475035-T-A c.629T>A p.L210Q Missense 3/3 - 1
9-120475035-T-C c.629T>C p.L210P Missense 3/3 - 1
9-120475036-G-A c.630G>A p.L210= Synonymous 3/3 - 1
9-120475036-G-C c.630G>C p.L210= Synonymous 3/3 - 1
9-120475036-G-T c.630G>T p.L210= Synonymous 3/3 - 1
9-120475037-T-G c.631T>G p.S211A Missense 3/3 - 1
9-120475038-C-A c.632C>A p.S211Y Missense 3/3 - 1
9-120475038-C-T c.632C>T p.S211F Missense 3/3 - 3
9-120475039-C-T c.633C>T p.S211= Synonymous 3/3 - 1
9-120475040-C-A c.634C>A p.L212M Missense 3/3 - 1
9-120475040-C-T c.634C>T p.L212= Synonymous 3/3 - 2
9-120475040-CTG-ATC c.634_636delinsATC p.L212I Missense 3/3 - 1
9-120475043-A-G c.637A>G p.N213D Missense 3/3 - 1
9-120475046-C-G c.640C>G p.P214A Missense 3/3 - 4
9-120475047-C-T c.641C>T p.P214L Missense 3/3 - 1
9-120475049-A-G c.643A>G p.M215V Missense 3/3 - 2
9-120475050-T-C c.644T>C p.M215T Missense 3/3 - 6
9-120475051-G-A c.645G>A p.M215I Missense 3/3 - 6
9-120475051-G-C c.645G>C p.M215I Missense 3/3 - 2
9-120475051-G-T c.645G>T p.M215I Missense 3/3 - 1
9-120475053-A-G c.647A>G p.N216S Missense 3/3 - 1
9-120475060-C-A c.654C>A p.I218= Synonymous 3/3 - 1
9-120475060-C-T c.654C>T p.I218= Synonymous 3/3 - 1
9-120475061-C-A c.655C>A p.Q219K Missense 3/3 - 2
9-120475061-C-T c.655C>T p.Q219* Nonsense 3/3 - 1
9-120475064-C-A c.658C>A p.P220T Missense 3/3 - 2
9-120475065-C-A c.659C>A p.P220Q Missense 3/3 - 2
9-120475066-A-T c.660A>T p.P220= Synonymous 3/3 - 1
9-120475067-G-A c.661G>A p.G221S Missense 3/3 - 3
9-120475068-GT-AG c.662_663delinsAG p.G221E Missense 3/3 - 1
9-120475069-T-G c.663T>G p.G221= Synonymous 3/3 - 1
9-120475070-G-A c.664G>A p.A222T Missense 3/3 - 1
9-120475071-C-T c.665C>T p.A222V Missense 3/3 - 2
9-120475073-T-C c.667T>C p.F223L Missense 3/3 - 1
9-120475075-T-A c.669T>A p.F223L Missense 3/3 - 1
9-120475075-T-G c.669T>G p.F223L Missense 3/3 - 1
9-120475079-G-A c.673G>A p.E225K Missense 3/3 - 10
9-120475079-G-T c.673G>T p.E225* Nonsense 3/3 - 5
9-120475082-A-C c.676A>C p.I226L Missense 3/3 - 1
9-120475083-T-C c.677T>C p.I226T Missense 3/3 - 1
9-120475083-T-G c.677T>G p.I226S Missense 3/3 - 1
9-120475084-T-A c.678T>A p.I226= Synonymous 3/3 - 1
9-120475084-T-C c.678T>C p.I226= Synonymous 3/3 - 1
9-120475085-A-T c.679A>T p.R227W Missense 3/3 - 1
9-120475088-C-A c.682C>A p.L228I Missense 3/3 - 1
9-120475088-C-T c.682C>T p.L228F Missense 3/3 - 1
9-120475089-T-C c.683T>C p.L228P Missense 3/3 - 1
9-120475091-C-T c.685C>T p.H229Y Missense 3/3 - 1
9-120475094-A-G c.688A>G p.K230E Missense 3/3 - 1
9-120475099-G-A c.693G>A p.L231= Synonymous 3/3 - 2
9-120475100-A-G c.694A>G p.T232A Missense 3/3 - 1
9-120475106-AGA-TGG c.700_702delinsTGG p.R234W Missense 3/3 - 1
9-120475106-AG-CA c.700_701delinsCA p.R234Q Missense 3/3 - 2
9-120475106-AG-CT c.700_701inv p.R234L Missense 3/3 - 1
9-120475106-AG-GC c.700_701delinsGC p.R234A Missense 3/3 - 1
9-120475107-G-T c.701G>T p.R234I Missense 3/3 - 3
9-120475109-A-C c.703A>C p.N235H Missense 3/3 - 1
9-120475109-A-G c.703A>G p.N235D Missense 3/3 - 1
9-120475111-T-C c.705T>C p.N235= Synonymous 3/3 - 1
9-120475112-A-C c.706A>C p.N236H Missense 3/3 - 1
9-120475115-T-C c.709T>C p.F237L Missense 3/3 - 1
9-120475115-T-G c.709T>G p.F237V Missense 3/3 - 2
9-120475117-T-A c.711T>A p.F237L Missense 3/3 - 1
9-120475117-T-G c.711T>G p.F237L Missense 3/3 - 1
9-120475117-T-C c.711T>C p.F237= Synonymous 3/3 - 1
9-120475118-GA-CG c.712_713delinsCG p.D238R Missense 3/3 - 1
9-120475118-G-T c.712G>T p.D238Y Missense 3/3 - 1
9-120475121-AG-GA c.715_716delinsGA p.S239D Missense 3/3 - 3
9-120475122-G-T c.716G>T p.S239I Missense 3/3 - 1
9-120475122-GT-TG c.716_717delinsTG p.S239M Missense 3/3 - 1
9-120475126-A-C c.720A>C p.L240F Missense 3/3 - 1
9-120475126-A-G c.720A>G p.L240= Synonymous 3/3 - 2
9-120475126-A-T c.720A>T p.L240F Missense 3/3 - 1
9-120475127-AA-GC c.721_722delinsGC p.N241A Missense 3/3 - 2
9-120475127-A-G c.721A>G p.N241D Missense 3/3 - 1
9-120475132-A-C c.726A>C p.V242= Synonymous 3/3 - 1
9-120475132-A-G c.726A>G p.V242= Synonymous 3/3 - 1
9-120475132-A-T c.726A>T p.V242= Synonymous 3/3 - 1
9-120475135-G-A c.729G>A p.M243I Missense 3/3 - 8
9-120475135-G-C c.729G>C p.M243I Missense 3/3 - 1
9-120475135-G-T c.729G>T p.M243I Missense 3/3 - 1
9-120475136-A-G c.730A>G p.K244E Missense 3/3 - 1
9-120475137-AA-TG c.731_732delinsTG p.K244M Missense 3/3 - 1
9-120475139-A-G c.733A>G p.T245A Missense 3/3 - 2
9-120475142-T-A c.736T>A p.C246S Missense 3/3 - 1
9-120475143-G-C c.737G>C p.C246S Missense 3/3 - 2
9-120475144-T-C c.738T>C p.C246= Synonymous 3/3 - 1
9-120475146-T-G c.740T>G p.I247S Missense 3/3 - 1
9-120475148-C-A c.742C>A p.Q248K Missense 3/3 - 1
9-120475148-C-T c.742C>T p.Q248* Nonsense 3/3 - 1
9-120475150-A-C c.744A>C p.Q248H Missense 3/3 - 1
9-120475150-A-T c.744A>T p.Q248H Missense 3/3 - 1
9-120475151-G-A c.745G>A p.G249S Missense 3/3 - 2
9-120475152-G-T c.746G>T p.G249V Missense 3/3 - 1
9-120475154-CTG-ATC c.748_750delinsATC p.L250I Missense 3/3 - 1
9-120475154-C-T c.748C>T p.L250= Synonymous 3/3 - 1
9-120475156-G-A c.750G>A p.L250= Synonymous 3/3 - 1
9-120475156-G-C c.750G>C p.L250= Synonymous 3/3 - 2
9-120475156-G-T c.750G>T p.L250= Synonymous 3/3 - 1
9-120475158-C-A c.752C>A p.A251D Missense 3/3 - 1
9-120475158-C-G c.752C>G p.A251G Missense 3/3 - 1
9-120475160-G-A c.754G>A p.G252S Missense 3/3 - 4
9-120475160-G-T c.754G>T p.G252C Missense 3/3 - 3
9-120475161-G-C c.755G>C p.G252A Missense 3/3 - 2
9-120475161-G-T c.755G>T p.G252V Missense 3/3 - 1
9-120475166-G-A c.760G>A p.E254K Missense 3/3 - 1
9-120475166-G-C c.760G>C p.E254Q Missense 3/3 - 1
9-120475166-G-T c.760G>T p.E254* Nonsense 3/3 - 1
9-120475168-A-C c.762A>C p.E254D Missense 3/3 - 2
9-120475171-C-T c.765C>T p.V255= Synonymous 3/3 - 2
9-120475172-C-A c.766C>A p.H256N Missense 3/3 - 1
9-120475172-C-T c.766C>T p.H256Y Missense 3/3 - 2
9-120475173-A-G c.767A>G p.H256R Missense 3/3 - 1
9-120475175-C-T c.769C>T p.R257C Missense 3/3 - 5
9-120475176-G-A c.770G>A p.R257H Missense 3/3 - 1
9-120475176-G-C c.770G>C p.R257P Missense 3/3 - 1
9-120475180-G-C c.774G>C p.L258F Missense 3/3 - 1
9-120475180-G-T c.774G>T p.L258F Missense 3/3 - 1
9-120475181-G-A c.775G>A p.V259I Missense 3/3 - 1
9-120475181-G-C c.775G>C p.V259L Missense 3/3 - 1
9-120475181-GTT-ATG c.775_777delinsATG p.V259M Missense 3/3 - 1
9-120475185-T-A c.779T>A p.L260Q Missense 3/3 - 1
9-120475185-T-C c.779T>C p.L260P Missense 3/3 - 1
9-120475184-C-T c.778C>T p.L260= Synonymous 3/3 - 1
9-120475186-G-A c.780G>A p.L260= Synonymous 3/3 - 2
9-120475186-G-C c.780G>C p.L260= Synonymous 3/3 - 1
9-120475186-G-T c.780G>T p.L260= Synonymous 3/3 - 1
9-120475187-G-A c.781G>A p.G261R Missense 3/3 - 2
9-120475187-G-C c.781G>C p.G261R Missense 3/3 - 2
9-120475188-G-A c.782G>A p.G261E Missense 3/3 - 1
9-120475189-A-G c.783A>G p.G261= Synonymous 3/3 - 1
9-120475190-G-A c.784G>A p.E262K Missense 3/3 - 5
9-120475190-G-T c.784G>T p.E262* Nonsense 3/3 - 5
9-120475192-A-C c.786A>C p.E262D Missense 3/3 - 2
9-120475192-A-T c.786A>T p.E262D Missense 3/3 - 1
9-120475195-T-C c.789T>C p.F263= Synonymous 3/3 - 1
9-120475196-AG-CA c.790_791delinsCA p.R264Q Missense 3/3 - 1
9-120475196-AG-GC c.790_791delinsGC p.R264A Missense 3/3 - 1
9-120475197-G-A c.791G>A p.R264K Missense 3/3 - 6
9-120475197-G-C c.791G>C p.R264T Missense 3/3 - 1
9-120475197-G-T c.791G>T p.R264I Missense 3/3 - 2
9-120475200-A-G c.794A>G p.N265S Missense 3/3 - 1
9-120475202-G-A c.796G>A p.E266K Missense 3/3 - 10
9-120475205-G-A c.799G>A p.G267R Missense 3/3 - 2
9-120475205-G-C c.799G>C p.G267R Missense 3/3 - 1
9-120475205-GG-AC c.799_800delinsAC p.G267T Missense 3/3 - 1
9-120475206-G-A c.800G>A p.G267E Missense 3/3 - 6
9-120475207-A-T c.801A>T p.G267= Synonymous 3/3 - 1
9-120475208-A-C c.802A>C p.N268H Missense 3/3 - 1
9-120475209-A-C c.803A>C p.N268T Missense 3/3 - 2
9-120475211-T-G c.805T>G p.L269V Missense 3/3 - 1
9-120475213-G-C c.807G>C p.L269F Missense 3/3 - 1
9-120475213-G-T c.807G>T p.L269F Missense 3/3 - 1
9-120475213-TGG-T c.807_808del p.E270Kfs*3 Frameshift 3/3 - 1
9-120475214-G-A c.808G>A p.E270K Missense 3/3 - 6
9-120475214-G-C c.808G>C p.E270Q Missense 3/3 - 1
9-120475218-A-C c.812A>C p.K271T Missense 3/3 - 5
9-120475219-G-A c.813G>A p.K271= Synonymous 3/3 - 1
9-120475223-G-A c.817G>A p.D273N Missense 3/3 - 1
9-120475223-G-C c.817G>C p.D273H Missense 3/3 - 3
9-120475224-A-C c.818A>C p.D273A Missense 3/3 - 1
9-120475226-AA-GC c.820_821delinsGC p.K274A Missense 3/3 - 1
9-120475226-A-C c.820A>C p.K274Q Missense 3/3 - 1
9-120475228-A-C c.822A>C p.K274N Missense 3/3 - 1
9-120475228-A-T c.822A>T p.K274N Missense 3/3 - 1
9-120475229-T-G c.823T>G p.S275A Missense 3/3 - 1
9-120475232-G-T c.826G>T p.A276S Missense 3/3 - 1
9-120475235-CT-TC c.829_830delinsTC p.L277S Missense 3/3 - 1
9-120475240-GGGC-CTGT c.834_837delinsCTGT p.E278_G279delinsDC MultiAAMissense 3/3 - 1
9-120475240-G-A c.834G>A p.E278= Synonymous 3/3 - 4
9-120475241-G-A c.835G>A p.G279S Missense 3/3 - 1
9-120475241-G-C c.835G>C p.G279R Missense 3/3 - 1
9-120475243-C-A c.837C>A p.G279= Synonymous 3/3 - 3
9-120475243-C-G c.837C>G p.G279= Synonymous 3/3 - 2
9-120475243-C-T c.837C>T p.G279= Synonymous 3/3 - 4
9-120475244-C-A c.838C>A p.L280M Missense 3/3 - 1
9-120475244-C-T c.838C>T p.L280= Synonymous 3/3 - 2
9-120475245-T-A c.839T>A p.L280Q Missense 3/3 - 1
9-120475245-T-G c.839T>G p.L280R Missense 3/3 - 1
9-120475246-G-A c.840G>A p.L280= Synonymous 3/3 - 1
9-120475246-G-C c.840G>C p.L280= Synonymous 3/3 - 2
9-120475246-G-T c.840G>T p.L280= Synonymous 3/3 - 1
9-120475248-G-A c.842G>A p.C281Y Missense 3/3 - 15
9-120475248-G-C c.842G>C p.C281S Missense 3/3 - 1
9-120475251-A-C c.845A>C p.N282T Missense 3/3 - 1
9-120475251-A-G c.845A>G p.N282S Missense 3/3 - 3
9-120475256-A-G c.850A>G p.T284A Missense 3/3 - 1
9-120475258-C-A c.852C>A p.T284= Synonymous 3/3 - 2
9-120475258-C-G c.852C>G p.T284= Synonymous 3/3 - 1
9-120475258-C-T c.852C>T p.T284= Synonymous 3/3 - 1
9-120475262-G-A c.856G>A p.E286K Missense 3/3 - 6
9-120475262-G-C c.856G>C p.E286Q Missense 3/3 - 1
9-120475265-G-T c.859G>T p.E287* Nonsense 3/3 - 1
9-120475266-A-G c.860A>G p.E287G Missense 3/3 - 3
9-120475266-A-T c.860A>T p.E287V Missense 3/3 - 1
9-120475268-T-C c.862T>C p.F288L Missense 3/3 - 1
9-120475270-C-A c.864C>A p.F288L Missense 3/3 - 1
9-120475270-C-G c.864C>G p.F288L Missense 3/3 - 1
9-120475270-C-T c.864C>T p.F288= Synonymous 3/3 - 3
9-120475269-TC-T c.865del p.R289Dfs*2 Frameshift 3/3 - 1
9-120475271-CGA-TGT c.865_867delinsTGT p.R289C Missense 3/3 - 1
9-120475271-C-T c.865C>T p.R289* Nonsense 3/3 - 5
9-120475272-G-A c.866G>A p.R289Q Missense 3/3 - 15
9-120475272-G-T c.866G>T p.R289L Missense 3/3 - 2
9-120475274-T-G c.868T>G p.L290V Missense 3/3 - 1
9-120475275-T-C c.869T>C p.L290S Missense 3/3 - 1
9-120475275-T-G c.869T>G p.L290* Nonsense 3/3 - 1
9-120475277-G-A c.871G>A p.A291T Missense 3/3 - 3
9-120475277-G-C c.871G>C p.A291P Missense 3/3 - 6
9-120475277-GCA-TAT c.871_873delinsTAT p.A291Y Missense 3/3 - 1
9-120475278-C-T c.872C>T p.A291V Missense 3/3 - 1
9-120475281-A-T c.875A>T p.Y292F Missense 3/3 - 1
9-120475285-A-C c.879A>C p.L293F Missense 3/3 - 1
9-120475285-A-T c.879A>T p.L293F Missense 3/3 - 1
9-120475289-T-A c.883T>A p.Y295N Missense 3/3 - 1
9-120475290-A-G c.884A>G p.Y295C Missense 3/3 - 6
9-120475293-A-T c.887A>T p.Y296F Missense 3/3 - 1
9-120475297-C-T c.891C>T p.L297= Synonymous 3/3 - 1
9-120475298-G-A c.892G>A p.D298N Missense 3/3 - 1
9-120475301-G-A c.895G>A p.D299N Missense 3/3 - 7
9-120475301-GA-AC c.895_896delinsAC p.D299T Missense 3/3 - 1
9-120475301-GA-AT c.895_896delinsAT p.D299I Missense 3/3 - 2
9-120475301-GAT-CAA c.895_897delinsCAA p.D299Q Missense 3/3 - 2
9-120475301-GA-TG c.895_896delinsTG p.D299C Missense 3/3 - 1
9-120475302-A-C c.896A>C p.D299A Missense 3/3 - 1
9-120475302-A-G c.896A>G p.D299G Missense 3/3 - 1058
9-120475302-A-T c.896A>T p.D299V Missense 3/3 - 260
9-120475303-T-A c.897T>A p.D299E Missense 3/3 - 1
9-120475303-T-C c.897T>C p.D299= Synonymous 3/3 - 11
9-120475303-T-G c.897T>G p.D299E Missense 3/3 - 1
9-120475304-A-G c.898A>G p.I300V Missense 3/3 - 1
9-120475307-TA-T c.901del p.I301Lfs*7 Frameshift 3/3 - 1
9-120475308-T-C c.902T>C p.I301T Missense 3/3 - 3
9-120475309-T-C c.903T>C p.I301= Synonymous 3/3 - 1
9-120475310-G-C c.904G>C p.D302H Missense 3/3 - 3
9-120475312-C-A c.906C>A p.D302E Missense 3/3 - 1
9-120475312-C-G c.906C>G p.D302E Missense 3/3 - 1
9-120475316-T-C c.910T>C p.F304L Missense 3/3 - 1
9-120475317-T-G c.911T>G p.F304C Missense 3/3 - 2
9-120475315-A-AT c.912dup p.N305* Nonsense 3/3 - 1
9-120475318-T-A c.912T>A p.F304L Missense 3/3 - 2
9-120475316-TTTAA-T c.913_916del p.N305Vfs*2 Frameshift 3/3 - 1
9-120475322-T-C c.916T>C p.C306R Missense 3/3 - 2
9-120475322-T-G c.916T>G p.C306G Missense 3/3 - 1
9-120475322-TG-GC c.916_917delinsGC p.C306A Missense 3/3 - 1
9-120475323-G-T c.917G>T p.C306F Missense 3/3 - 1
9-120475324-T-G c.918T>G p.C306W Missense 3/3 - 2
9-120475325-T-A c.919T>A p.L307M Missense 3/3 - 1
9-120475327-G-C c.921G>C p.L307F Missense 3/3 - 2
9-120475327-G-T c.921G>T p.L307F Missense 3/3 - 1
9-120475328-A-C c.922A>C p.T308P Missense 3/3 - 1
9-120475328-A-G c.922A>G p.T308A Missense 3/3 - 3
9-120475331-A-C c.925A>C p.N309H Missense 3/3 - 1
9-120475333-T-G c.927T>G p.N309K Missense 3/3 - 1
9-120475334-G-A c.928G>A p.V310I Missense 3/3 - 1
9-120475335-T-G c.929T>G p.V310G Missense 3/3 - 1
9-120475340-T-C c.934T>C p.S312P Missense 3/3 - 1
9-120475341-C-T c.935C>T p.S312L Missense 3/3 - 7
9-120475343-T-G c.937T>G p.F313V Missense 3/3 - 1
9-120475343-TT-GC c.937_938delinsGC p.F313A Missense 3/3 - 1
9-120475345-T-G c.939T>G p.F313L Missense 3/3 - 1
9-120475346-T-C c.940T>C p.S314P Missense 3/3 - 1
9-120475347-C-T c.941C>T p.S314F Missense 3/3 - 4
9-120475348-C-T c.942C>T p.S314= Synonymous 3/3 - 1
9-120475349-C-T c.943C>T p.L315= Synonymous 3/3 - 3
9-120475351-G-A c.945G>A p.L315= Synonymous 3/3 - 1
9-120475351-G-C c.945G>C p.L315= Synonymous 3/3 - 2
9-120475351-G-T c.945G>T p.L315= Synonymous 3/3 - 1
9-120475352-G-A c.946G>A p.V316M Missense 3/3 - 1
9-120475353-T-A c.947T>A p.V316E Missense 3/3 - 1
9-120475354-G-T c.948G>T p.V316= Synonymous 3/3 - 1
9-120475355-A-G c.949A>G p.S317G Missense 3/3 - 1
9-120475355-A-T c.949A>T p.S317C Missense 3/3 - 1
9-120475358-G-A c.952G>A p.V318M Missense 3/3 - 1
9-120475362-C-A c.956C>A p.T319N Missense 3/3 - 7
9-120475366-T-C c.960T>C p.I320= Synonymous 3/3 - 1
9-120475367-G-T c.961G>T p.E321* Nonsense 3/3 - 1
9-120475368-A-G c.962A>G p.E321G Missense 3/3 - 1
9-120475369-A-C c.963A>C p.E321D Missense 3/3 - 4
9-120475369-A-T c.963A>T p.E321D Missense 3/3 - 4
9-120475370-A-G c.964A>G p.R322G Missense 3/3 - 1
9-120475370-AG-GC c.964_965delinsGC p.R322A Missense 3/3 - 1
9-120475371-G-A c.965G>A p.R322K Missense 3/3 - 2
9-120475371-G-C c.965G>C p.R322T Missense 3/3 - 1
9-120475372-G-C c.966G>C p.R322S Missense 3/3 - 1
9-120475372-G-T c.966G>T p.R322S Missense 3/3 - 1
9-120475373-G-A c.967G>A p.V323I Missense 3/3 - 1
9-120475375-A-C c.969A>C p.V323= Synonymous 3/3 - 1
9-120475375-A-G c.969A>G p.V323= Synonymous 3/3 - 1
9-120475376-AA-GC c.970_971delinsGC p.K324A Missense 3/3 - 1
9-120475377-A-G c.971A>G p.K324R Missense 3/3 - 1
9-120475379-G-A c.973G>A p.D325N Missense 3/3 - 4
9-120475379-G-C c.973G>C p.D325H Missense 3/3 - 1
9-120475379-G-T c.973G>T p.D325Y Missense 3/3 - 4
9-120475380-A-C c.974A>C p.D325A Missense 3/3 - 3
9-120475380-A-T c.974A>T p.D325V Missense 3/3 - 1
9-120475381-C-T c.975C>T p.D325= Synonymous 3/3 - 1
9-120475382-T-A c.976T>A p.F326I Missense 3/3 - 1
9-120475384-T-C c.978T>C p.F326= Synonymous 3/3 - 1
9-120475386-C-A c.980C>A p.S327Y Missense 3/3 - 2
9-120475387-T-C c.981T>C p.S327= Synonymous 3/3 - 1
9-120475388-TA-GC c.982_983delinsGC p.Y328A Missense 3/3 - 1
9-120475390-T-A c.984T>A p.Y328* Nonsense 3/3 - 1
9-120475390-T-C c.984T>C p.Y328= Synonymous 3/3 - 2
9-120475390-T-G c.984T>G p.Y328* Nonsense 3/3 - 1
9-120475391-AA-GC c.985_986delinsGC p.N329A Missense 3/3 - 1
9-120475392-A-C c.986A>C p.N329T Missense 3/3 - 1
9-120475392-A-G c.986A>G p.N329S Missense 3/3 - 2
9-120475393-T-A c.987T>A p.N329K Missense 3/3 - 1
9-120475393-T-G c.987T>G p.N329K Missense 3/3 - 1
9-120475395-T-G c.989T>G p.F330C Missense 3/3 - 1
9-120475396-C-T c.990C>T p.F330= Synonymous 3/3 - 8
9-120475397-G-A c.991G>A p.G331R Missense 3/3 - 1
9-120475397-G-C c.991G>C p.G331R Missense 3/3 - 1
9-120475398-G-T c.992G>T p.G331V Missense 3/3 - 2
9-120475400-TG-GC c.994_995delinsGC p.W332A Missense 3/3 - 1
9-120475402-G-A c.996G>A p.W332* Nonsense 3/3 - 1
9-120475402-G-C c.996G>C p.W332C Missense 3/3 - 1
9-120475402-G-T c.996G>T p.W332C Missense 3/3 - 1
9-120475403-C-T c.997C>T p.Q333* Nonsense 3/3 - 1
9-120475406-C-A c.1000C>A p.H334N Missense 3/3 - 1
9-120475409-T-A c.1003T>A p.L335I Missense 3/3 - 1
9-120475412-G-A c.1006G>A p.E336K Missense 3/3 - 2
9-120475412-G-T c.1006G>T p.E336* Nonsense 3/3 - 1
9-120475414-AAT-A c.1008_1009del p.E336Dfs*3 Frameshift 3/3 - 1
9-120475414-A-G c.1008A>G p.E336= Synonymous 3/3 - 1
9-120475418-G-A c.1012G>A p.V338I Missense 3/3 - 1
9-120475419-T-A c.1013T>A p.V338D Missense 3/3 - 1
9-120475419-T-C c.1013T>C p.V338A Missense 3/3 - 3
9-120475427-AA-GC c.1021_1022delinsGC p.K341A Missense 3/3 - 1
9-120475427-A-G c.1021A>G p.K341E Missense 3/3 - 1
9-120475430-T-C c.1024T>C p.F342L Missense 3/3 - 2
9-120475432-T-A c.1026T>A p.F342L Missense 3/3 - 1
9-120475431-T-A c.1025T>A p.F342Y Missense 3/3 - 1
9-120475431-T-G c.1025T>G p.F342C Missense 3/3 - 2
9-120475432-T-G c.1026T>G p.F342L Missense 3/3 - 2
9-120475434-G-A c.1028G>A p.G343E Missense 3/3 - 1
9-120475436-C-A c.1030C>A p.Q344K Missense 3/3 - 1
9-120475436-C-T c.1030C>T p.Q344* Nonsense 3/3 - 1
9-120475439-T-C c.1033T>C p.F345L Missense 3/3 - 1
9-120475441-T-A c.1035T>A p.F345L Missense 3/3 - 1
9-120475441-T-G c.1035T>G p.F345L Missense 3/3 - 1
9-120475442-C-T c.1036C>T p.P346S Missense 3/3 - 8
9-120475443-C-A c.1037C>A p.P346H Missense 3/3 - 1
9-120475443-C-T c.1037C>T p.P346L Missense 3/3 - 5
9-120475444-C-A c.1038C>A p.P346= Synonymous 3/3 - 2
9-120475444-C-G c.1038C>G p.P346= Synonymous 3/3 - 1
9-120475444-C-T c.1038C>T p.P346= Synonymous 3/3 - 1
9-120475445-A-T c.1039A>T p.T347S Missense 3/3 - 2
9-120475446-C-A c.1040C>A p.T347K Missense 3/3 - 1
9-120475451-AA-GC c.1045_1046delinsGC p.K349A Missense 3/3 - 1
9-120475451-A-G c.1045A>G p.K349E Missense 3/3 - 1
9-120475454-C-T c.1048C>T p.L350F Missense 3/3 - 1
9-120475456-C-G c.1050C>G p.L350= Synonymous 3/3 - 1
9-120475457-AA-GC c.1051_1052delinsGC p.K351A Missense 3/3 - 1
9-120475457-A-T c.1051A>T p.K351* Nonsense 3/3 - 2
9-120475460-T-G c.1054T>G p.S352A Missense 3/3 - 1
9-120475461-C-A c.1055C>A p.S352Y Missense 3/3 - 1
9-120475461-C-T c.1055C>T p.S352F Missense 3/3 - 1
9-120475462-T-A c.1056T>A p.S352= Synonymous 3/3 - 2
9-120475462-T-C c.1056T>C p.S352= Synonymous 3/3 - 3
9-120475462-T-G c.1056T>G p.S352= Synonymous 3/3 - 2
9-120475463-C-T c.1057C>T p.L353F Missense 3/3 - 13
9-120475463-CT-GC c.1057_1058delinsGC p.L353A Missense 3/3 - 2
9-120475468-A-G c.1062A>G p.K354= Synonymous 3/3 - 8
9-120475468-A-T c.1062A>T p.K354N Missense 3/3 - 1
9-120475475-A-G c.1069A>G p.T357A Missense 3/3 - 1
9-120475476-C-A c.1070C>A p.T357N Missense 3/3 - 1
9-120475476-C-G c.1070C>G p.T357S Missense 3/3 - 1
9-120475480-C-T c.1074C>T p.F358= Synonymous 3/3 - 1
9-120475481-A-G c.1075A>G p.T359A Missense 3/3 - 1
9-120475482-C-G c.1076C>G p.T359S Missense 3/3 - 1
9-120475482-C-T c.1076C>T p.T359I Missense 3/3 - 11
9-120475482-CT-TG c.1076_1077delinsTG p.T359M Missense 3/3 - 1
9-120475484-T-G c.1078T>G p.S360A Missense 3/3 - 2
9-120475486-C-T c.1080C>T p.S360= Synonymous 3/3 - 1
9-120475488-A-G c.1082A>G p.N361S Missense 3/3 - 1
9-120475490-AA-GC c.1084_1085delinsGC p.K362A Missense 3/3 - 1
9-120475490-A-G c.1084A>G p.K362E Missense 3/3 - 3
9-120475490-A-T c.1084A>T p.K362* Nonsense 3/3 - 1
9-120475491-A-G c.1085A>G p.K362R Missense 3/3 - 1
9-120475492-A-G c.1086A>G p.K362= Synonymous 3/3 - 2
9-120475493-G-C c.1087G>C p.G363R Missense 3/3 - 1
9-120475493-G-T c.1087G>T p.G363C Missense 3/3 - 1
9-120475496-G-C c.1090G>C p.G364R Missense 3/3 - 1
9-120475496-G-T c.1090G>T p.G364W Missense 3/3 - 3
9-120475497-G-A c.1091G>A p.G364E Missense 3/3 - 1
9-120475502-G-C c.1096G>C p.A366P Missense 3/3 - 1
9-120475505-T-G c.1099T>G p.F367V Missense 3/3 - 1
9-120475507-T-C c.1101T>C p.F367= Synonymous 3/3 - 1
9-120475503-C-CT c.1102dup p.S368Ffs*4 Frameshift 3/3 - 1
9-120475509-C-A c.1103C>A p.S368* Nonsense 3/3 - 6
9-120475509-C-G c.1103C>G p.S368* Nonsense 3/3 - 4
9-120475511-G-A c.1105G>A p.E369K Missense 3/3 - 2
9-120475511-G-T c.1105G>T p.E369* Nonsense 3/3 - 2
9-120475512-A-C c.1106A>C p.E369A Missense 3/3 - 1
9-120475512-A-G c.1106A>G p.E369G Missense 3/3 - 1
9-120475515-T-C c.1109T>C p.V370A Missense 3/3 - 1
9-120475517-G-A c.1111G>A p.D371N Missense 3/3 - 2
9-120475518-A-C c.1112A>C p.D371A Missense 3/3 - 1
9-120475519-T-C c.1113T>C p.D371= Synonymous 3/3 - 1
9-120475520-C-A c.1114C>A p.L372I Missense 3/3 - 1
9-120475520-C-G c.1114C>G p.L372V Missense 3/3 - 1
9-120475520-C-T c.1114C>T p.L372= Synonymous 3/3 - 1
9-120475522-A-C c.1116A>C p.L372= Synonymous 3/3 - 1
9-120475522-A-G c.1116A>G p.L372= Synonymous 3/3 - 1
9-120475522-A-T c.1116A>T p.L372= Synonymous 3/3 - 1
9-120475523-C-A c.1117C>A p.P373T Missense 3/3 - 1
9-120475525-A-C c.1119A>C p.P373= Synonymous 3/3 - 1
9-120475525-A-G c.1119A>G p.P373= Synonymous 3/3 - 1
9-120475525-A-T c.1119A>T p.P373= Synonymous 3/3 - 1
9-120475527-G-C c.1121G>C p.S374T Missense 3/3 - 2
9-120475526-A-C c.1120A>C p.S374R Missense 3/3 - 2
9-120475528-C-A c.1122C>A p.S374R Missense 3/3 - 3
9-120475528-C-G c.1122C>G p.S374R Missense 3/3 - 2
9-120475528-C-T c.1122C>T p.S374= Synonymous 3/3 - 4
9-120475530-T-C c.1124T>C p.L375P Missense 3/3 - 1
9-120475538-C-T c.1132C>T p.L378= Synonymous 3/3 - 1
9-120475539-T-G c.1133T>G p.L378R Missense 3/3 - 1
9-120475541-G-A c.1135G>A p.D379N Missense 3/3 - 1
9-120475542-A-G c.1136A>G p.D379G Missense 3/3 - 2
9-120475544-C-T c.1138C>T p.L380F Missense 3/3 - 3
9-120475546-C-T c.1140C>T p.L380= Synonymous 3/3 - 2
9-120475549-T-G c.1143T>G p.S381R Missense 3/3 - 3
9-120475550-A-G c.1144A>G p.R382G Missense 3/3 - 1
9-120475551-G-A c.1145G>A p.R382K Missense 3/3 - 1
9-120475556-G-A c.1150G>A p.G384S Missense 3/3 - 4
9-120475556-G-C c.1150G>C p.G384R Missense 3/3 - 1
9-120475557-G-T c.1151G>T p.G384V Missense 3/3 - 1
9-120475558-C-A c.1152C>A p.G384= Synonymous 3/3 - 2
9-120475558-C-G c.1152C>G p.G384= Synonymous 3/3 - 1
9-120475558-C-T c.1152C>T p.G384= Synonymous 3/3 - 1
9-120475560-T-C c.1154T>C p.L385S Missense 3/3 - 1
9-120475561-G-A c.1155G>A p.L385= Synonymous 3/3 - 1
9-120475561-G-T c.1155G>T p.L385F Missense 3/3 - 3
9-120475562-AG-CC c.1156_1157delinsCC p.S386P Missense 3/3 - 1
9-120475562-AG-GC c.1156_1157delinsGC p.S386A Missense 3/3 - 1
9-120475562-AGT-GAG c.1156_1158delinsGAG p.S386E Missense 3/3 - 1
9-120475563-G-A c.1157G>A p.S386N Missense 3/3 - 2
9-120475563-G-T c.1157G>T p.S386I Missense 3/3 - 1
9-120475568-A-G c.1162A>G p.K388E Missense 3/3 - 1
9-120475568-A-T c.1162A>T p.K388* Nonsense 3/3 - 2
9-120475571-G-A c.1165G>A p.G389S Missense 3/3 - 5
9-120475573-T-A c.1167T>A p.G389= Synonymous 3/3 - 1
9-120475573-T-C c.1167T>C p.G389= Synonymous 3/3 - 1
9-120475573-T-G c.1167T>G p.G389= Synonymous 3/3 - 1
9-120475574-T-A c.1168T>A p.C390S Missense 3/3 - 1
9-120475575-G-C c.1169G>C p.C390S Missense 3/3 - 1
9-120475575-G-T c.1169G>T p.C390F Missense 3/3 - 1
9-120475577-TG-GC c.1171_1172delinsGC p.C391A Missense 3/3 - 1
9-120475581-C-T c.1175C>T p.S392F Missense 3/3 - 3
9-120475582-T-A c.1176T>A p.S392= Synonymous 3/3 - 2
9-120475582-T-C c.1176T>C p.S392= Synonymous 3/3 - 3
9-120475582-T-G c.1176T>G p.S392= Synonymous 3/3 - 2
9-120475583-C-G c.1177C>G p.Q393E Missense 3/3 - 1
9-120475584-A-G c.1178A>G p.Q393R Missense 3/3 - 1
9-120475586-A-T c.1180A>T p.S394C Missense 3/3 - 1
9-120475587-G-T c.1181G>T p.S394I Missense 3/3 - 1
9-120475589-G-A c.1183G>A p.D395N Missense 3/3 - 3
9-120475592-T-A c.1186T>A p.F396I Missense 3/3 - 1
9-120475593-T-G c.1187T>G p.F396C Missense 3/3 - 1
9-120475597-G-A c.1191G>A p.G397= Synonymous 3/3 - 6
9-120475597-G-C c.1191G>C p.G397= Synonymous 3/3 - 2
9-120475597-G-T c.1191G>T p.G397= Synonymous 3/3 - 3
9-120475601-A-C c.1195A>C p.T399P Missense 3/3 - 2
9-120475601-ACC-TAA c.1195_1197delinsTAA p.T399* Nonsense 3/3 - 1
9-120475601-AC-GG c.1195_1196delinsGG p.T399G Missense 3/3 - 2
9-120475601-AC-TG c.1195_1196delinsTG p.T399C Missense 3/3 - 1
9-120475601-A-G c.1195A>G p.T399A Missense 3/3 - 2
9-120475602-C-G c.1196C>G p.T399S Missense 3/3 - 2
9-120475602-C-T c.1196C>T p.T399I Missense 3/3 - 693
9-120475603-C-A c.1197C>A p.T399= Synonymous 3/3 - 8
9-120475603-C-G c.1197C>G p.T399= Synonymous 3/3 - 8
9-120475603-C-T c.1197C>T p.T399= Synonymous 3/3 - 8
9-120475605-G-A c.1199G>A p.S400N Missense 3/3 - 5
9-120475607-CT-GC c.1201_1202delinsGC p.L401A Missense 3/3 - 1
9-120475607-C-T c.1201C>T p.L401= Synonymous 3/3 - 1
9-120475609-A-C c.1203A>C p.L401= Synonymous 3/3 - 1
9-120475609-A-G c.1203A>G p.L401= Synonymous 3/3 - 2
9-120475609-A-T c.1203A>T p.L401= Synonymous 3/3 - 1
9-120475610-A-G c.1204A>G p.K402E Missense 3/3 - 2
9-120475611-A-G c.1205A>G p.K402R Missense 3/3 - 2
9-120475612-G-A c.1206G>A p.K402= Synonymous 3/3 - 2
9-120475615-T-A c.1209T>A p.Y403* Nonsense 3/3 - 1
9-120475615-T-G c.1209T>G p.Y403* Nonsense 3/3 - 1
9-120475616-T-A c.1210T>A p.L404I Missense 3/3 - 3
9-120475616-T-C c.1210T>C p.L404= Synonymous 3/3 - 1
9-120475618-A-G c.1212A>G p.L404= Synonymous 3/3 - 1
9-120475618-A-C c.1212A>C p.L404F Missense 3/3 - 1
9-120475618-A-T c.1212A>T p.L404F Missense 3/3 - 1
9-120475619-G-A c.1213G>A p.D405N Missense 3/3 - 4
9-120475619-G-T c.1213G>T p.D405Y Missense 3/3 - 2
9-120475621-T-C c.1215T>C p.D405= Synonymous 3/3 - 1
9-120475622-CTG-ATC c.1216_1218delinsATC p.L406I Missense 3/3 - 2
9-120475623-T-C c.1217T>C p.L406P Missense 3/3 - 1
9-120475623-T-G c.1217T>G p.L406R Missense 3/3 - 1
9-120475626-G-T c.1220G>T p.S407I Missense 3/3 - 1
9-120475627-C-T c.1221C>T p.S407= Synonymous 3/3 - 1
9-120475630-C-T c.1224C>T p.F408= Synonymous 3/3 - 1
9-120475635-G-A c.1229G>A p.G410D Missense 3/3 - 1
9-120475639-T-A c.1233T>A p.V411= Synonymous 3/3 - 3
9-120475639-T-C c.1233T>C p.V411= Synonymous 3/3 - 2
9-120475639-T-G c.1233T>G p.V411= Synonymous 3/3 - 2
9-120475640-A-G c.1234A>G p.I412V Missense 3/3 - 1
9-120475640-A-T c.1234A>T p.I412F Missense 3/3 - 1
9-120475643-A-T c.1237A>T p.T413S Missense 3/3 - 2
9-120475644-C-A c.1238C>A p.T413N Missense 3/3 - 1
9-120475644-C-G c.1238C>G p.T413S Missense 3/3 - 3
9-120475648-G-A c.1242G>A p.M414I Missense 3/3 - 2
9-120475648-G-C c.1242G>C p.M414I Missense 3/3 - 1
9-120475648-G-T c.1242G>T p.M414I Missense 3/3 - 1
9-120475649-A-G c.1243A>G p.S415G Missense 3/3 - 3
9-120475649-AGT-TGA c.1243_1245delinsTGA p.S415* Nonsense 3/3 - 1
9-120475650-G-T c.1244G>T p.S415I Missense 3/3 - 3
9-120475651-T-C c.1245T>C p.S415= Synonymous 3/3 - 1
9-120475653-C-T c.1247C>T p.S416L Missense 3/3 - 2
9-120475654-A-C c.1248A>C p.S416= Synonymous 3/3 - 1
9-120475654-A-G c.1248A>G p.S416= Synonymous 3/3 - 1
9-120475654-A-T c.1248A>T p.S416= Synonymous 3/3 - 1
9-120475656-A-G c.1250A>G p.N417S Missense 3/3 - 2
9-120475657-C-A c.1251C>A p.N417K Missense 3/3 - 1
9-120475657-C-G c.1251C>G p.N417K Missense 3/3 - 1
9-120475658-T-C c.1252T>C p.F418L Missense 3/3 - 2
9-120475660-C-G c.1254C>G p.F418L Missense 3/3 - 2
9-120475659-T-C c.1253T>C p.F418S Missense 3/3 - 1
9-120475660-C-A c.1254C>A p.F418L Missense 3/3 - 3
9-120475660-C-T c.1254C>T p.F418= Synonymous 3/3 - 1
9-120475661-TT-CC c.1255_1256delinsCC p.L419P Missense 3/3 - 1
9-120475662-T-G c.1256T>G p.L419W Missense 3/3 - 1
9-120475663-G-C c.1257G>C p.L419F Missense 3/3 - 5
9-120475663-G-T c.1257G>T p.L419F Missense 3/3 - 4
9-120475664-G-C c.1258G>C p.G420R Missense 3/3 - 1
9-120475665-G-A c.1259G>A p.G420D Missense 3/3 - 1
9-120475665-G-C c.1259G>C p.G420A Missense 3/3 - 1
9-120475666-C-A c.1260C>A p.G420= Synonymous 3/3 - 1
9-120475667-T-C c.1261T>C p.L421= Synonymous 3/3 - 2
9-120475668-T-A c.1262T>A p.L421* Nonsense 3/3 - 1
9-120475670-G-A c.1264G>A p.E422K Missense 3/3 - 5
9-120475673-C-G c.1267C>G p.Q423E Missense 3/3 - 2
9-120475674-A-T c.1268A>T p.Q423L Missense 3/3 - 1
9-120475675-A-C c.1269A>C p.Q423H Missense 3/3 - 3
9-120475675-A-T c.1269A>T p.Q423H Missense 3/3 - 2
9-120475676-C-A c.1270C>A p.L424I Missense 3/3 - 1
9-120475678-A-G c.1272A>G p.L424= Synonymous 3/3 - 1
9-120475679-G-A c.1273G>A p.E425K Missense 3/3 - 1
9-120475683-A-G c.1277A>G p.H426R Missense 3/3 - 1
9-120475685-C-A c.1279C>A p.L427M Missense 3/3 - 1
9-120475685-C-T c.1279C>T p.L427= Synonymous 3/3 - 2
9-120475688-G-A c.1282G>A p.D428N Missense 3/3 - 5
9-120475692-T-G c.1286T>G p.F429C Missense 3/3 - 1
9-120475694-C-T c.1288C>T p.Q430* Nonsense 3/3 - 2
9-120475699-T-A c.1293T>A p.H431Q Missense 3/3 - 1
9-120475700-TC-CT c.1294_1295delinsCT p.S432L Missense 3/3 - 1
9-120475701-C-A c.1295C>A p.S432Y Missense 3/3 - 1
9-120475701-C-T c.1295C>T p.S432F Missense 3/3 - 2
9-120475702-C-A c.1296C>A p.S432= Synonymous 3/3 - 4
9-120475702-C-G c.1296C>G p.S432= Synonymous 3/3 - 2
9-120475702-C-T c.1296C>T p.S432= Synonymous 3/3 - 4
9-120475703-AA-GC c.1297_1298delinsGC p.N433A Missense 3/3 - 1
9-120475703-A-C c.1297A>C p.N433H Missense 3/3 - 1
9-120475704-A-C c.1298A>C p.N433T Missense 3/3 - 1
9-120475706-T-A c.1300T>A p.L434M Missense 3/3 - 1
9-120475708-G-A c.1302G>A p.L434= Synonymous 3/3 - 1
9-120475709-A-G c.1303A>G p.K435E Missense 3/3 - 1
9-120475710-A-C c.1304A>C p.K435T Missense 3/3 - 1
9-120475710-A-G c.1304A>G p.K435R Missense 3/3 - 1
9-120475711-A-T c.1305A>T p.K435N Missense 3/3 - 1
9-120475712-C-T c.1306C>T p.Q436* Nonsense 3/3 - 1
9-120475713-A-ACT c.1307_1308insCT p.Q436Hfs*2 Frameshift 3/3 - 1
9-120475713-A-G c.1307A>G p.Q436R Missense 3/3 - 5
9-120475714-A-G c.1308A>G p.Q436= Synonymous 3/3 - 1
9-120475716-T-C c.1310T>C p.M437T Missense 3/3 - 1
9-120475717-G-A c.1311G>A p.M437I Missense 3/3 - 1
9-120475719-G-A c.1313G>A p.S438N Missense 3/3 - 1
9-120475721-G-A c.1315G>A p.E439K Missense 3/3 - 5
9-120475721-G-T c.1315G>T p.E439* Nonsense 3/3 - 2
9-120475722-A-C c.1316A>C p.E439A Missense 3/3 - 5
9-120475722-A-G c.1316A>G p.E439G Missense 3/3 - 4
9-120475722-A-T c.1316A>T p.E439V Missense 3/3 - 2
9-120475723-G-A c.1317G>A p.E439= Synonymous 3/3 - 5
9-120475724-T-C c.1318T>C p.F440L Missense 3/3 - 2
9-120475724-T-G c.1318T>G p.F440V Missense 3/3 - 3
9-120475724-TT-GC c.1318_1319delinsGC p.F440A Missense 3/3 - 3
9-120475726-T-A c.1320T>A p.F440L Missense 3/3 - 1
9-120475726-T-G c.1320T>G p.F440L Missense 3/3 - 1
9-120475725-TT-AA c.1319_1320inv p.F440* Nonsense 3/3 - 2
9-120475725-TT-GG c.1319_1320delinsGG p.F440W Missense 3/3 - 1
9-120475727-TCA-GAC c.1321_1323delinsGAC p.S441D Missense 3/3 - 1
9-120475728-CA-GT c.1322_1323delinsGT p.S441C Missense 3/3 - 1
9-120475728-C-T c.1322C>T p.S441L Missense 3/3 - 4
9-120475730-G-A c.1324G>A p.V442I Missense 3/3 - 1
9-120475731-T-C c.1325T>C p.V442A Missense 3/3 - 1
9-120475733-T-C c.1327T>C p.F443L Missense 3/3 - 2
9-120475735-C-G c.1329C>G p.F443L Missense 3/3 - 2
9-120475734-T-A c.1328T>A p.F443Y Missense 3/3 - 2
9-120475735-C-A c.1329C>A p.F443L Missense 3/3 - 3
9-120475735-C-T c.1329C>T p.F443= Synonymous 3/3 - 2
9-120475736-C-T c.1330C>T p.L444= Synonymous 3/3 - 4
9-120475736-CT-GC c.1330_1331delinsGC p.L444A Missense 3/3 - 1
9-120475736-CT-TA c.1330_1331delinsTA p.L444* Nonsense 3/3 - 2
9-120475737-T-C c.1331T>C p.L444P Missense 3/3 - 8
9-120475738-TA-T c.1332del p.S445Hfs*32 Frameshift 3/3 - 1
9-120475740-C-T c.1334C>T p.S445L Missense 3/3 - 1
9-120475741-A-C c.1335A>C p.S445= Synonymous 3/3 - 1
9-120475741-A-G c.1335A>G p.S445= Synonymous 3/3 - 1
9-120475741-A-T c.1335A>T p.S445= Synonymous 3/3 - 3
9-120475742-C-A c.1336C>A p.L446I Missense 3/3 - 5
9-120475743-T-C c.1337T>C p.L446P Missense 3/3 - 1
9-120475746-G-T c.1340G>T p.R447I Missense 3/3 - 1
9-120475745-A-C c.1339A>C p.R447= Synonymous 3/3 - 1
9-120475747-A-G c.1341A>G p.R447= Synonymous 3/3 - 1
9-120475748-A-C c.1342A>C p.N448H Missense 3/3 - 2
9-120475748-A-G c.1342A>G p.N448D Missense 3/3 - 1
9-120475748-A-T c.1342A>T p.N448Y Missense 3/3 - 1
9-120475751-C-T c.1345C>T p.L449F Missense 3/3 - 5
9-120475753-C-A c.1347C>A p.L449= Synonymous 3/3 - 1
9-120475753-C-G c.1347C>G p.L449= Synonymous 3/3 - 1
9-120475753-C-T c.1347C>T p.L449= Synonymous 3/3 - 8
9-120475757-TA-GC c.1351_1352delinsGC p.Y451A Missense 3/3 - 1
9-120475760-CTT-AAG c.1354_1356inv p.L452K Missense 3/3 - 2
9-120475761-T-G c.1355T>G p.L452R Missense 3/3 - 33
9-120475761-TT-AA c.1355_1356inv p.L452Q Missense 3/3 - 4
9-120475764-A-C c.1358A>C p.D453A Missense 3/3 - 1
9-120475765-C-T c.1359C>T p.D453= Synonymous 3/3 - 1
9-120475766-A-T c.1360A>T p.I454F Missense 3/3 - 1
9-120475767-TT-AG c.1361_1362delinsAG p.I454K Missense 3/3 - 1
9-120475770-C-T c.1364C>T p.S455F Missense 3/3 - 3
9-120475772-CA-GC c.1366_1367delinsGC p.H456A Missense 3/3 - 2
9-120475772-C-T c.1366C>T p.H456Y Missense 3/3 - 2
9-120475778-CAC-TAA c.1372_1374delinsTAA p.H458* Nonsense 3/3 - 1
9-120475778-C-T c.1372C>T p.H458Y Missense 3/3 - 5
9-120475780-C-G c.1374C>G p.H458Q Missense 3/3 - 1
9-120475783-C-T c.1377C>T p.T459= Synonymous 3/3 - 1
9-120475784-AGA-CAT c.1378_1380delinsCAT p.R460H Missense 3/3 - 2
9-120475785-G-A c.1379G>A p.R460K Missense 3/3 - 1
9-120475785-G-T c.1379G>T p.R460I Missense 3/3 - 1
9-120475784-A-C c.1378A>C p.R460= Synonymous 3/3 - 1
9-120475786-A-G c.1380A>G p.R460= Synonymous 3/3 - 1
9-120475787-G-A c.1381G>A p.V461I Missense 3/3 - 1
9-120475788-T-G c.1382T>G p.V461G Missense 3/3 - 4
9-120475790-G-A c.1384G>A p.A462T Missense 3/3 - 1
9-120475790-G-C c.1384G>C p.A462P Missense 3/3 - 3
9-120475790-G-T c.1384G>T p.A462S Missense 3/3 - 3
9-120475793-TT-GC c.1387_1388delinsGC p.F463A Missense 3/3 - 3
9-120475794-TC-AA c.1388_1389delinsAA p.F463* Nonsense 3/3 - 2
9-120475798-T-C c.1392T>C p.N464= Synonymous 3/3 - 2
9-120475799-G-A c.1393G>A p.G465S Missense 3/3 - 1
9-120475799-G-C c.1393G>C p.G465R Missense 3/3 - 1
9-120475801-C-A c.1395C>A p.G465= Synonymous 3/3 - 1
9-120475801-C-G c.1395C>G p.G465= Synonymous 3/3 - 1
9-120475801-C-T c.1395C>T p.G465= Synonymous 3/3 - 1
9-120475802-A-C c.1396A>C p.I466L Missense 3/3 - 1
9-120475805-T-C c.1399T>C p.F467L Missense 3/3 - 2
9-120475807-C-G c.1401C>G p.F467L Missense 3/3 - 1
9-120475807-C-A c.1401C>A p.F467L Missense 3/3 - 2
9-120475809-A-T c.1403A>T p.N468I Missense 3/3 - 1
9-120475811-G-T c.1405G>T p.G469C Missense 3/3 - 1
9-120475812-G-A c.1406G>A p.G469D Missense 3/3 - 1
9-120475812-G-T c.1406G>T p.G469V Missense 3/3 - 2
9-120475811-GGCTT-G c.1407_1410del p.L470Pfs*6 Frameshift 3/3 - 1
9-120475813-C-A c.1407C>A p.G469= Synonymous 3/3 - 1
9-120475814-TT-GC c.1408_1409delinsGC p.L470A Missense 3/3 - 1
9-120475816-G-T c.1410G>T p.L470F Missense 3/3 - 2
9-120475818-C-T c.1412C>T p.S471F Missense 3/3 - 2
9-120475825-C-T c.1419C>T p.L473= Synonymous 3/3 - 1
9-120475826-G-A c.1420G>A p.E474K Missense 3/3 - 11
9-120475826-G-T c.1420G>T p.E474* Nonsense 3/3 - 8
9-120475829-GTC-ATG c.1423_1425delinsATG p.V475M Missense 3/3 - 1
9-120475830-T-G c.1424T>G p.V475G Missense 3/3 - 1
9-120475831-C-T c.1425C>T p.V475= Synonymous 3/3 - 1
9-120475833-T-A c.1427T>A p.L476* Nonsense 3/3 - 2
9-120475834-G-A c.1428G>A p.L476= Synonymous 3/3 - 1
9-120475834-G-C c.1428G>C p.L476F Missense 3/3 - 1
9-120475834-G-T c.1428G>T p.L476F Missense 3/3 - 1
9-120475835-AA-GC c.1429_1430delinsGC p.K477A Missense 3/3 - 1
9-120475841-G-A c.1435G>A p.A479T Missense 3/3 - 4
9-120475842-C-T c.1436C>T p.A479V Missense 3/3 - 1
9-120475844-GG-TT c.1438_1439delinsTT p.G480F Missense 3/3 - 1
9-120475844-G-T c.1438G>T p.G480C Missense 3/3 - 3
9-120475845-G-T c.1439G>T p.G480V Missense 3/3 - 1
9-120475848-A-G c.1442A>G p.N481S Missense 3/3 - 1
9-120475850-T-C c.1444T>C p.S482P Missense 3/3 - 1
9-120475851-C-A c.1445C>A p.S482Y Missense 3/3 - 1
9-120475851-C-T c.1445C>T p.S482F Missense 3/3 - 6
9-120475852-T-A c.1446T>A p.S482= Synonymous 3/3 - 2
9-120475852-T-C c.1446T>C p.S482= Synonymous 3/3 - 1
9-120475851-CT-C c.1448del p.F483Sfs*13 Frameshift 3/3 - 1
9-120475855-C-T c.1449C>T p.F483= Synonymous 3/3 - 1
9-120475859-G-A c.1453G>A p.E485K Missense 3/3 - 14
9-120475861-A-G c.1455A>G p.E485= Synonymous 3/3 - 1
9-120475862-A-T c.1456A>T p.N486Y Missense 3/3 - 2
9-120475863-A-C c.1457A>C p.N486T Missense 3/3 - 3
9-120475865-T-A c.1459T>A p.F487I Missense 3/3 - 2
9-120475865-T-C c.1459T>C p.F487L Missense 3/3 - 3
9-120475865-T-G c.1459T>G p.F487V Missense 3/3 - 10
9-120475867-C-A c.1461C>A p.F487L Missense 3/3 - 2
9-120475867-C-G c.1461C>G p.F487L Missense 3/3 - 2
9-120475866-T-G c.1460T>G p.F487C Missense 3/3 - 1
9-120475867-C-T c.1461C>T p.F487= Synonymous 3/3 - 7
9-120475868-C-T c.1462C>T p.L488F Missense 3/3 - 1
9-120475871-C-T c.1465C>T p.P489S Missense 3/3 - 2
9-120475872-C-T c.1466C>T p.P489L Missense 3/3 - 1
9-120475874-G-T c.1468G>T p.D490Y Missense 3/3 - 1
9-120475875-A-T c.1469A>T p.D490V Missense 3/3 - 2
9-120475876-T-C c.1470T>C p.D490= Synonymous 3/3 - 1
9-120475877-A-C c.1471A>C p.I491L Missense 3/3 - 1
9-120475879-C-G c.1473C>G p.I491M Missense 3/3 - 1
9-120475880-T-C c.1474T>C p.F492L Missense 3/3 - 2
9-120475880-T-G c.1474T>G p.F492V Missense 3/3 - 1
9-120475882-C-A c.1476C>A p.F492L Missense 3/3 - 2
9-120475881-T-C c.1475T>C p.F492S Missense 3/3 - 1
9-120475882-C-G c.1476C>G p.F492L Missense 3/3 - 3
9-120475884-C-T c.1478C>T p.T493I Missense 3/3 - 1
9-120475885-A-C c.1479A>C p.T493= Synonymous 3/3 - 1
9-120475885-A-G c.1479A>G p.T493= Synonymous 3/3 - 1
9-120475885-A-T c.1479A>T p.T493= Synonymous 3/3 - 1
9-120475890-T-C c.1484T>C p.L495P Missense 3/3 - 4
9-120475889-C-T c.1483C>T p.L495= Synonymous 3/3 - 1
9-120475891-G-A c.1485G>A p.L495= Synonymous 3/3 - 1
9-120475891-G-C c.1485G>C p.L495= Synonymous 3/3 - 1
9-120475891-G-T c.1485G>T p.L495= Synonymous 3/3 - 1
9-120475892-AG-CC c.1486_1487delinsCC p.R496P Missense 3/3 - 1
9-120475893-G-A c.1487G>A p.R496K Missense 3/3 - 1
9-120475894-A-G c.1488A>G p.R496= Synonymous 3/3 - 1
9-120475895-AAC-CAA c.1489_1491delinsCAA p.N497Q Missense 3/3 - 1
9-120475895-A-T c.1489A>T p.N497Y Missense 3/3 - 2
9-120475897-C-A c.1491C>A p.N497K Missense 3/3 - 1
9-120475898-T-G c.1492T>G p.L498V Missense 3/3 - 12
9-120475899-T-G c.1493T>G p.L498W Missense 3/3 - 1
9-120475901-A-C c.1495A>C p.T499P Missense 3/3 - 1
9-120475903-C-A c.1497C>A p.T499= Synonymous 3/3 - 1
9-120475904-T-A c.1498T>A p.F500I Missense 3/3 - 3
9-120475906-C-G c.1500C>G p.F500L Missense 3/3 - 1
9-120475906-C-T c.1500C>T p.F500= Synonymous 3/3 - 4
9-120475907-C-T c.1501C>T p.L501= Synonymous 3/3 - 2
9-120475909-G-A c.1503G>A p.L501= Synonymous 3/3 - 2
9-120475910-G-A c.1504G>A p.D502N Missense 3/3 - 1
9-120475910-GAC-CAA c.1504_1506delinsCAA p.D502Q Missense 3/3 - 1
9-120475910-G-T c.1504G>T p.D502Y Missense 3/3 - 1
9-120475913-C-A c.1507C>A p.L503I Missense 3/3 - 1
9-120475913-CT-GC c.1507_1508delinsGC p.L503A Missense 3/3 - 1
9-120475915-C-A c.1509C>A p.L503= Synonymous 3/3 - 1
9-120475915-C-G c.1509C>G p.L503= Synonymous 3/3 - 1
9-120475915-C-T c.1509C>T p.L503= Synonymous 3/3 - 3
9-120475916-T-C c.1510T>C p.S504P Missense 3/3 - 5
9-120475916-TCT-GAG c.1510_1512delinsGAG p.S504E Missense 3/3 - 1
9-120475916-T-G c.1510T>G p.S504A Missense 3/3 - 1
9-120475917-C-G c.1511C>G p.S504C Missense 3/3 - 4
9-120475917-C-T c.1511C>T p.S504F Missense 3/3 - 1
9-120475924-T-C c.1518T>C p.C506= Synonymous 3/3 - 1
9-120475924-T-G c.1518T>G p.C506W Missense 3/3 - 1
9-120475927-A-G c.1521A>G p.Q507= Synonymous 3/3 - 1
9-120475931-G-A c.1525G>A p.E509K Missense 3/3 - 2
9-120475933-G-A c.1527G>A p.E509= Synonymous 3/3 - 1
9-120475933-G-C c.1527G>C p.E509D Missense 3/3 - 1
9-120475933-G-T c.1527G>T p.E509D Missense 3/3 - 1
9-120475934-C-A c.1528C>A p.Q510K Missense 3/3 - 1
9-120475936-G-A c.1530G>A p.Q510= Synonymous 3/3 - 3
9-120475936-G-C c.1530G>C p.Q510H Missense 3/3 - 13
9-120475936-G-T c.1530G>T p.Q510H Missense 3/3 - 12
9-120475939-G-C c.1533G>C p.L511F Missense 3/3 - 1
9-120475939-G-T c.1533G>T p.L511F Missense 3/3 - 1
9-120475941-C-T c.1535C>T p.S512F Missense 3/3 - 1
9-120475944-C-G c.1538C>G p.P513R Missense 3/3 - 1
9-120475945-A-C c.1539A>C p.P513= Synonymous 3/3 - 1
9-120475945-A-G c.1539A>G p.P513= Synonymous 3/3 - 2
9-120475945-A-T c.1539A>T p.P513= Synonymous 3/3 - 1
9-120475947-CA-TG c.1541_1542inv p.T514M Missense 3/3 - 1
9-120475949-G-A c.1543G>A p.A515T Missense 3/3 - 6
9-120475950-C-T c.1544C>T p.A515V Missense 3/3 - 2
9-120475953-T-C c.1547T>C p.F516S Missense 3/3 - 1
9-120475954-TA-AT c.1548_1549delinsAT p.F516_N517delinsLY MultiAAMissense 3/3 - 1
9-120475961-C-G c.1555C>G p.L519V Missense 3/3 - 1
9-120475964-T-C c.1558T>C p.S520P Missense 3/3 - 1
9-120475965-C-A c.1559C>A p.S520Y Missense 3/3 - 5
9-120475966-C-A c.1560C>A p.S520= Synonymous 3/3 - 1
9-120475966-C-G c.1560C>G p.S520= Synonymous 3/3 - 1
9-120475966-C-T c.1560C>T p.S520= Synonymous 3/3 - 1
9-120475968-G-A c.1562G>A p.S521N Missense 3/3 - 1
9-120475970-C-A c.1564C>A p.L522I Missense 3/3 - 1
9-120475970-CT-AG c.1564_1565inv p.L522S Missense 3/3 - 1
9-120475974-A-G c.1568A>G p.Q523R Missense 3/3 - 1
9-120475977-T-A c.1571T>A p.V524E Missense 3/3 - 7
9-120475979-ACTAAAT-A c.1573_1578del p.L525_N526del InFrameDeletion 3/3 - 1
9-120475979-C-G c.1573C>G p.L525V Missense 3/3 - 6
9-120475982-AAT-CAA c.1576_1578delinsCAA p.N526Q Missense 3/3 - 1
9-120475982-A-T c.1576A>T p.N526Y Missense 3/3 - 5
9-120475987-G-A c.1581G>A p.M527I Missense 3/3 - 1
9-120475987-G-C c.1581G>C p.M527I Missense 3/3 - 1
9-120475987-G-T c.1581G>T p.M527I Missense 3/3 - 1
9-120475989-GC-G c.1585del p.H529Tfs*15 Frameshift 3/3 - 1
9-120475991-C-A c.1585C>A p.H529N Missense 3/3 - 1
9-120475992-A-G c.1586A>G p.H529R Missense 3/3 - 8
9-120475999-C-A c.1593C>A p.N531K Missense 3/3 - 2
9-120475999-C-G c.1593C>G p.N531K Missense 3/3 - 2
9-120476000-T-C c.1594T>C p.F532L Missense 3/3 - 9
9-120476002-C-A c.1596C>A p.F532L Missense 3/3 - 10
9-120476002-C-G c.1596C>G p.F532L Missense 3/3 - 11
9-120476001-T-C c.1595T>C p.F532S Missense 3/3 - 1
9-120476003-T-A c.1597T>A p.F533I Missense 3/3 - 1
9-120476003-T-C c.1597T>C p.F533L Missense 3/3 - 1
9-120476005-T-A c.1599T>A p.F533L Missense 3/3 - 1
9-120476005-T-G c.1599T>G p.F533L Missense 3/3 - 1
9-120476002-CTTT-C c.1598_1600del p.F533del InFrameDeletion 3/3 - 1
9-120476006-T-G c.1600T>G p.S534A Missense 3/3 - 1
9-120476007-C-G c.1601C>G p.S534* Nonsense 3/3 - 1
9-120476007-C-T c.1601C>T p.S534L Missense 3/3 - 2
9-120476010-T-C c.1604T>C p.L535S Missense 3/3 - 1
9-120476011-G-A c.1605G>A p.L535= Synonymous 3/3 - 1
9-120476012-G-A c.1606G>A p.D536N Missense 3/3 - 5
9-120476012-G-T c.1606G>T p.D536Y Missense 3/3 - 1
9-120476015-A-T c.1609A>T p.T537S Missense 3/3 - 4
9-120476016-C-A c.1610C>A p.T537K Missense 3/3 - 1
9-120476016-C-T c.1610C>T p.T537M Missense 3/3 - 2
9-120476017-G-A c.1611G>A p.T537= Synonymous 3/3 - 1
9-120476017-G-C c.1611G>C p.T537= Synonymous 3/3 - 1
9-120476017-G-T c.1611G>T p.T537= Synonymous 3/3 - 1
9-120476021-C-T c.1615C>T p.P539S Missense 3/3 - 5
9-120476022-C-A c.1616C>A p.P539H Missense 3/3 - 1
9-120476022-C-G c.1616C>G p.P539R Missense 3/3 - 1
9-120476022-C-T c.1616C>T p.P539L Missense 3/3 - 7
9-120476027-A-C c.1621A>C p.K541Q Missense 3/3 - 1
9-120476027-A-G c.1621A>G p.K541E Missense 3/3 - 1
9-120476029-G-A c.1623G>A p.K541= Synonymous 3/3 - 1
9-120476033-C-T c.1627C>T p.L543= Synonymous 3/3 - 1
9-120476035-G-T c.1629G>T p.L543= Synonymous 3/3 - 1
9-120476037-A-C c.1631A>C p.N544T Missense 3/3 - 1
9-120476037-A-G c.1631A>G p.N544S Missense 3/3 - 1
9-120476038-C-A c.1632C>A p.N544K Missense 3/3 - 1
9-120476038-C-T c.1632C>T p.N544= Synonymous 3/3 - 1
9-120476040-C-T c.1634C>T p.S545F Missense 3/3 - 7
9-120476041-C-A c.1635C>A p.S545= Synonymous 3/3 - 1
9-120476041-C-T c.1635C>T p.S545= Synonymous 3/3 - 2
9-120476042-C-A c.1636C>A p.L546I Missense 3/3 - 1
9-120476046-A-G c.1640A>G p.Q547R Missense 3/3 - 1
9-120476047-G-T c.1641G>T p.Q547H Missense 3/3 - 1
9-120476051-C-A c.1645C>A p.L549I Missense 3/3 - 1
9-120476054-G-A c.1648G>A p.D550N Missense 3/3 - 5
9-120476054-G-T c.1648G>T p.D550Y Missense 3/3 - 1
9-120476055-A-C c.1649A>C p.D550A Missense 3/3 - 1
9-120476060-AG-CC c.1654_1655delinsCC p.S552P Missense 3/3 - 1
9-120476062-T-C c.1656T>C p.S552= Synonymous 3/3 - 1
9-120476064-CTCA-C c.1658_1660del p.L553_N554delinsH MultiAAMissense 3/3 - 1
9-120476067-A-G c.1661A>G p.N554S Missense 3/3 - 4
9-120476069-C-A c.1663C>A p.H555N Missense 3/3 - 1
9-120476069-C-T c.1663C>T p.H555Y Missense 3/3 - 1
9-120476073-T-C c.1667T>C p.I556T Missense 3/3 - 1
9-120476074-A-G c.1668A>G p.I556M Missense 3/3 - 1
9-120476075-A-C c.1669A>C p.M557L Missense 3/3 - 3
9-120476075-A-T c.1669A>T p.M557L Missense 3/3 - 3
9-120476077-G-A c.1671G>A p.M557I Missense 3/3 - 3
9-120476077-G-C c.1671G>C p.M557I Missense 3/3 - 1
9-120476077-G-T c.1671G>T p.M557I Missense 3/3 - 1
9-120476078-A-G c.1672A>G p.T558A Missense 3/3 - 1
9-120476079-C-A c.1673C>A p.T558N Missense 3/3 - 1
9-120476079-C-T c.1673C>T p.T558I Missense 3/3 - 1
9-120476081-T-G c.1675T>G p.S559A Missense 3/3 - 1
9-120476082-C-T c.1676C>T p.S559F Missense 3/3 - 1
9-120476084-AA-GC c.1678_1679delinsGC p.K560A Missense 3/3 - 1
9-120476087-AA-GC c.1681_1682delinsGC p.K561A Missense 3/3 - 1
9-120476088-A-G c.1682A>G p.K561R Missense 3/3 - 1
9-120476083-C-CA c.1683dup p.Q562Tfs*9 Frameshift 3/3 - 2
9-120476092-G-A c.1686G>A p.Q562= Synonymous 3/3 - 1
9-120476093-G-A c.1687G>A p.E563K Missense 3/3 - 9
9-120476095-A-C c.1689A>C p.E563D Missense 3/3 - 1
9-120476095-A-G c.1689A>G p.E563= Synonymous 3/3 - 1
9-120476095-A-T c.1689A>T p.E563D Missense 3/3 - 1
9-120476096-C-T c.1690C>T p.L564= Synonymous 3/3 - 1
9-120476098-A-C c.1692A>C p.L564= Synonymous 3/3 - 1
9-120476098-A-G c.1692A>G p.L564= Synonymous 3/3 - 1
9-120476098-A-T c.1692A>T p.L564= Synonymous 3/3 - 1
9-120476099-C-A c.1693C>A p.Q565K Missense 3/3 - 1
9-120476108-C-A c.1702C>A p.P568T Missense 3/3 - 4
9-120476108-C-T c.1702C>T p.P568S Missense 3/3 - 6
9-120476109-C-A c.1703C>A p.P568Q Missense 3/3 - 2
9-120476111-A-G c.1705A>G p.S569G Missense 3/3 - 1
9-120476114-AG-GC c.1708_1709delinsGC p.S570A Missense 3/3 - 1
9-120476115-G-T c.1709G>T p.S570I Missense 3/3 - 1
9-120476116-T-A c.1710T>A p.S570R Missense 3/3 - 1
9-120476116-T-C c.1710T>C p.S570= Synonymous 3/3 - 1
9-120476118-T-A c.1712T>A p.L571Q Missense 3/3 - 1
9-120476118-T-C c.1712T>C p.L571P Missense 3/3 - 2
9-120476121-C-T c.1715C>T p.A572V Missense 3/3 - 2
9-120476123-T-C c.1717T>C p.F573L Missense 3/3 - 1
9-120476125-C-A c.1719C>A p.F573L Missense 3/3 - 1
9-120476125-C-G c.1719C>G p.F573L Missense 3/3 - 1
9-120476125-C-T c.1719C>T p.F573= Synonymous 3/3 - 2
9-120476126-T-C c.1720T>C p.L574= Synonymous 3/3 - 2
9-120476128-A-G c.1722A>G p.L574= Synonymous 3/3 - 1
9-120476129-AAT-CAA c.1723_1725delinsCAA p.N575Q Missense 3/3 - 1
9-120476131-T-C c.1725T>C p.N575= Synonymous 3/3 - 2
9-120476132-C-A c.1726C>A p.L576I Missense 3/3 - 3
9-120476138-C-CG c.1732_1733insG p.Q578Rfs*3 Frameshift 3/3 - 1
9-120476139-A-T c.1733A>T p.Q578L Missense 3/3 - 1
9-120476140-G-A c.1734G>A p.Q578= Synonymous 3/3 - 4
9-120476140-G-C c.1734G>C p.Q578H Missense 3/3 - 1
9-120476143-T-C c.1737T>C p.N579= Synonymous 3/3 - 2
9-120476146-C-T c.1740C>T p.D580= Synonymous 3/3 - 1
9-120476147-T-C c.1741T>C p.F581L Missense 3/3 - 1
9-120476149-T-A c.1743T>A p.F581L Missense 3/3 - 1
9-120476149-T-G c.1743T>G p.F581L Missense 3/3 - 1
9-120476148-T-G c.1742T>G p.F581C Missense 3/3 - 1
9-120476146-CT-C c.1743del p.F581Lfs*41 Frameshift 3/3 - 1
9-120476150-G-A c.1744G>A p.A582T Missense 3/3 - 2
9-120476154-G-T c.1748G>T p.C583F Missense 3/3 - 3
9-120476156-A-T c.1750A>T p.T584S Missense 3/3 - 1
9-120476157-C-G c.1751C>G p.T584S Missense 3/3 - 1
9-120476157-C-T c.1751C>T p.T584I Missense 3/3 - 1
9-120476158-T-A c.1752T>A p.T584= Synonymous 3/3 - 3
9-120476158-T-C c.1752T>C p.T584= Synonymous 3/3 - 3
9-120476158-T-G c.1752T>G p.T584= Synonymous 3/3 - 4
9-120476160-G-A c.1754G>A p.C585Y Missense 3/3 - 1
9-120476160-G-T c.1754G>T p.C585F Missense 3/3 - 1
9-120476162-G-A c.1756G>A p.E586K Missense 3/3 - 2
9-120476164-A-C c.1758A>C p.E586D Missense 3/3 - 1
9-120476164-A-T c.1758A>T p.E586D Missense 3/3 - 2
9-120476165-C-CTCCCA c.1759_1760insTCCCA p.H587Lfs*37 Frameshift 3/3 - 1
9-120476165-C-G c.1759C>G p.H587D Missense 3/3 - 1
9-120476168-C-CTCCCA c.1762_1763insTCCCA p.Q588Lfs*36 Frameshift 3/3 - 1
9-120476170-G-C c.1764G>C p.Q588H Missense 3/3 - 1
9-120476170-G-T c.1764G>T p.Q588H Missense 3/3 - 1
9-120476171-AG-CC c.1765_1766delinsCC p.S589P Missense 3/3 - 1
9-120476172-G-A c.1766G>A p.S589N Missense 3/3 - 1
9-120476172-G-T c.1766G>T p.S589I Missense 3/3 - 1
9-120476175-T-A c.1769T>A p.F590Y Missense 3/3 - 1
9-120476176-C-T c.1770C>T p.F590= Synonymous 3/3 - 5
9-120476180-C-T c.1774C>T p.Q592* Nonsense 3/3 - 1
9-120476182-A-G c.1776A>G p.Q592= Synonymous 3/3 - 1
9-120476185-G-A c.1779G>A p.W593* Nonsense 3/3 - 1
9-120476186-A-T c.1780A>T p.I594F Missense 3/3 - 1
9-120476187-AT-A c.1781del p.I594Tfs*28 Frameshift 3/3 - 1
9-120476188-C-G c.1782C>G p.I594M Missense 3/3 - 1
9-120476189-AA-GC c.1783_1784delinsGC p.K595A Missense 3/3 - 1
9-120476189-A-C c.1783A>C p.K595Q Missense 3/3 - 1
9-120476189-A-G c.1783A>G p.K595E Missense 3/3 - 1
9-120476191-G-C c.1785G>C p.K595N Missense 3/3 - 7
9-120476191-G-T c.1785G>T p.K595N Missense 3/3 - 7
9-120476192-G-A c.1786G>A p.D596N Missense 3/3 - 2
9-120476198-AG-GC c.1792_1793delinsGC p.R598A Missense 3/3 - 1
9-120476199-G-C c.1793G>C p.R598T Missense 3/3 - 1
9-120476199-G-T c.1793G>T p.R598M Missense 3/3 - 1
9-120476201-C-G c.1795C>G p.Q599E Missense 3/3 - 1
9-120476201-C-T c.1795C>T p.Q599* Nonsense 3/3 - 1
9-120476203-G-A c.1797G>A p.Q599= Synonymous 3/3 - 1
9-120476204-C-G c.1798C>G p.L600V Missense 3/3 - 1
9-120476210-G-A c.1804G>A p.V602M Missense 3/3 - 3
9-120476213-G-A c.1807G>A p.E603K Missense 3/3 - 8
9-120476215-A-C c.1809A>C p.E603D Missense 3/3 - 1
9-120476215-A-T c.1809A>T p.E603D Missense 3/3 - 1
9-120476221-A-G c.1815A>G p.E605= Synonymous 3/3 - 5
9-120476222-C-T c.1816C>T p.R606* Nonsense 3/3 - 5
9-120476223-G-A c.1817G>A p.R606Q Missense 3/3 - 11
9-120476227-G-T c.1821G>T p.M607I Missense 3/3 - 1
9-120476228-G-A c.1822G>A p.E608K Missense 3/3 - 1
9-120476231-TG-AC c.1825_1826delinsAC p.C609T Missense 3/3 - 7
9-120476234-G-T c.1828G>T p.A610S Missense 3/3 - 1
9-120476246-G-A c.1840G>A p.D614N Missense 3/3 - 5
9-120476247-A-G c.1841A>G p.D614G Missense 3/3 - 92
9-120476248-T-C c.1842T>C p.D614= Synonymous 3/3 - 1
9-120476255-G-A c.1849G>A p.G617S Missense 3/3 - 1
9-120476261-C-CTCCCA c.1855_1856insTCCCA p.P619Lfs*5 Frameshift 3/3 - 1
9-120476261-C-T c.1855C>T p.P619S Missense 3/3 - 3
9-120476262-C-T c.1856C>T p.P619L Missense 3/3 - 1
9-120476267-C-A c.1861C>A p.L621M Missense 3/3 - 2
9-120476267-CTG-TTT c.1861_1863delinsTTT p.L621F Missense 3/3 - 2
9-120476271-G-A c.1865G>A p.S622N Missense 3/3 - 1
9-120476275-G-A c.1869G>A p.L623= Synonymous 3/3 - 1
9-120476281-C-T c.1875C>T p.I625= Synonymous 3/3 - 2
9-120476282-A-C c.1876A>C p.T626P Missense 3/3 - 1
9-120476283-C-G c.1877C>G p.T626S Missense 3/3 - 1
9-120476285-TG-GC c.1879_1880delinsGC p.C627A Missense 3/3 - 2
9-120476286-G-T c.1880G>T p.C627F Missense 3/3 - 1
9-120476290-G-A c.1884G>A p.Q628= Synonymous 3/3 - 1
9-120476297-AA-GC c.1891_1892delinsGC p.K631A Missense 3/3 - 1
9-120476301-C-T c.1895C>T p.T632I Missense 3/3 - 3
9-120476304-T-G c.1898T>G p.I633S Missense 3/3 - 1
9-120476305-C-A c.1899C>A p.I633= Synonymous 3/3 - 2
9-120476305-C-T c.1899C>T p.I633= Synonymous 3/3 - 3
9-120476310-G-T c.1904G>T p.G635V Missense 3/3 - 1
9-120476311-T-A c.1905T>A p.G635= Synonymous 3/3 - 1
9-120476311-T-C c.1905T>C p.G635= Synonymous 3/3 - 1
9-120476311-T-G c.1905T>G p.G635= Synonymous 3/3 - 1
9-120476316-C-CA c.1910_1911insA p.V638Gfs*16 Frameshift 3/3 - 1
9-120476316-C-T c.1910C>T p.S637L Missense 3/3 - 3
9-120476317-G-A c.1911G>A p.S637= Synonymous 3/3 - 1
9-120476317-G-C c.1911G>C p.S637= Synonymous 3/3 - 1
9-120476317-G-T c.1911G>T p.S637= Synonymous 3/3 - 3
9-120476318-G-C c.1912G>C p.V638L Missense 3/3 - 2
9-120476318-G-T c.1912G>T p.V638F Missense 3/3 - 1
9-120476324-A-T c.1918A>T p.S640C Missense 3/3 - 3
9-120476324-A-C c.1918A>C p.S640R Missense 3/3 - 1
9-120476326-T-A c.1920T>A p.S640R Missense 3/3 - 1
9-120476326-T-G c.1920T>G p.S640R Missense 3/3 - 1
9-120476332-T-A c.1926T>A p.L642= Synonymous 3/3 - 1
9-120476334-T-A c.1928T>A p.V643E Missense 3/3 - 2
9-120476336-G-C c.1930G>C p.V644L Missense 3/3 - 2
9-120476336-G-T c.1930G>T p.V644L Missense 3/3 - 3
9-120476340-C-A c.1934C>A p.S645Y Missense 3/3 - 1
9-120476340-C-T c.1934C>T p.S645F Missense 3/3 - 1
9-120476346-T-C c.1940T>C p.V647A Missense 3/3 - 1
9-120476352-T-G c.1946T>G p.V649G Missense 3/3 - 2
9-120476354-C-A c.1948C>A p.L650M Missense 3/3 - 5
9-120476354-C-T c.1948C>T p.L650= Synonymous 3/3 - 2
9-120476357-G-T c.1951G>T p.V651F Missense 3/3 - 2
9-120476358-T-A c.1952T>A p.V651D Missense 3/3 - 1
9-120476361-A-G c.1955A>G p.Y652C Missense 3/3 - 4
9-120476362-T-C c.1956T>C p.Y652= Synonymous 3/3 - 1
9-120476365-G-A c.1959G>A p.K653= Synonymous 3/3 - 8
9-120476365-G-C c.1959G>C p.K653N Missense 3/3 - 1
9-120476365-G-T c.1959G>T p.K653N Missense 3/3 - 1
9-120476366-T-C c.1960T>C p.F654L Missense 3/3 - 1
9-120476368-C-G c.1962C>G p.F654L Missense 3/3 - 1
9-120476368-C-A c.1962C>A p.F654L Missense 3/3 - 2
9-120476372-T-C c.1966T>C p.F656L Missense 3/3 - 1
9-120476374-T-A c.1968T>A p.F656L Missense 3/3 - 1
9-120476374-T-G c.1968T>G p.F656L Missense 3/3 - 1
9-120476375-C-A c.1969C>A p.H657N Missense 3/3 - 1
9-120476375-C-T c.1969C>T p.H657Y Missense 3/3 - 1
9-120476376-A-G c.1970A>G p.H657R Missense 3/3 - 1
9-120476377-C-A c.1971C>A p.H657Q Missense 3/3 - 1
9-120476378-C-T c.1972C>T p.L658= Synonymous 3/3 - 3
9-120476380-G-A c.1974G>A p.L658= Synonymous 3/3 - 2
9-120476380-G-C c.1974G>C p.L658= Synonymous 3/3 - 2
9-120476380-G-T c.1974G>T p.L658= Synonymous 3/3 - 2
9-120476380-G-GA c.1975dup p.M659Nfs*11 Frameshift 3/3 - 1
9-120476382-T-C c.1976T>C p.M659T Missense 3/3 - 1
9-120476387-C-T c.1981C>T p.L661F Missense 3/3 - 2
9-120476394-G-A c.1988G>A p.G663D Missense 3/3 - 1
9-120476395-C-A c.1989C>A p.G663= Synonymous 3/3 - 1
9-120476395-C-G c.1989C>G p.G663= Synonymous 3/3 - 1
9-120476395-C-T c.1989C>T p.G663= Synonymous 3/3 - 1
9-120476396-TG-GC c.1990_1991delinsGC p.C664A Missense 3/3 - 1
9-120476403-A-C c.1997A>C p.K666T Missense 3/3 - 1
9-120476405-T-A c.1999T>A p.Y667N Missense 3/3 - 3
9-120476405-TA-CT c.1999_2000delinsCT p.Y667L Missense 3/3 - 1
9-120476405-T-C c.1999T>C p.Y667H Missense 3/3 - 2
9-120476408-G-T c.2002G>T p.G668C Missense 3/3 - 3
9-120476410-T-A c.2004T>A p.G668= Synonymous 3/3 - 1
9-120476410-T-C c.2004T>C p.G668= Synonymous 3/3 - 1
9-120476410-T-G c.2004T>G p.G668= Synonymous 3/3 - 1
9-120476412-G-A c.2006G>A p.R669K Missense 3/3 - 1
9-120476412-G-C c.2006G>C p.R669T Missense 3/3 - 3
9-120476416-T-A c.2010T>A p.G670= Synonymous 3/3 - 2
9-120476416-T-C c.2010T>C p.G670= Synonymous 3/3 - 1
9-120476416-T-G c.2010T>G p.G670= Synonymous 3/3 - 2
9-120476417-G-A c.2011G>A p.E671K Missense 3/3 - 6
9-120476417-G-T c.2011G>T p.E671* Nonsense 3/3 - 1
9-120476418-A-G c.2012A>G p.E671G Missense 3/3 - 2
9-120476424-T-C c.2018T>C p.I673T Missense 3/3 - 1
9-120476424-T-G c.2018T>G p.I673S Missense 3/3 - 1
9-120476426-TA-GC c.2020_2021delinsGC p.Y674A Missense 3/3 - 6
9-120476428-T-C c.2022T>C p.Y674= Synonymous 3/3 - 1
9-120476429-G-A c.2023G>A p.D675N Missense 3/3 - 1
9-120476433-C-A c.2027C>A p.A676D Missense 3/3 - 1
9-120476433-C-G c.2027C>G p.A676G Missense 3/3 - 1
9-120476438-G-T c.2032G>T p.V678F Missense 3/3 - 1
9-120476442-T-C c.2036T>C p.I679T Missense 3/3 - 1
9-120476442-T-G c.2036T>G p.I679S Missense 3/3 - 1
9-120476443-C-A c.2037C>A p.I679= Synonymous 3/3 - 2
9-120476443-C-T c.2037C>T p.I679= Synonymous 3/3 - 1
9-120476444-TA-GC c.2038_2039delinsGC p.Y680A Missense 3/3 - 5
9-120476445-A-G c.2039A>G p.Y680C Missense 3/3 - 1
9-120476448-C-A c.2042C>A p.S681* Nonsense 3/3 - 3
9-120476448-C-G c.2042C>G p.S681* Nonsense 3/3 - 4
9-120476449-A-G c.2043A>G p.S681= Synonymous 3/3 - 1
9-120476451-G-C c.2045G>C p.S682T Missense 3/3 - 1
9-120476451-G-T c.2045G>T p.S682I Missense 3/3 - 1
9-120476453-C-A c.2047C>A p.Q683K Missense 3/3 - 1
9-120476453-CA-GC c.2047_2048delinsGC p.Q683A Missense 3/3 - 1
9-120476453-C-G c.2047C>G p.Q683E Missense 3/3 - 1
9-120476456-G-T c.2050G>T p.D684Y Missense 3/3 - 8
9-120476457-A-C c.2051A>C p.D684A Missense 3/3 - 1
9-120476458-T-A c.2052T>A p.D684E Missense 3/3 - 1
9-120476458-T-G c.2052T>G p.D684E Missense 3/3 - 1
9-120476459-G-A c.2053G>A p.E685K Missense 3/3 - 1
9-120476461-G-A c.2055G>A p.E685= Synonymous 3/3 - 4
9-120476462-G-A c.2056G>A p.D686N Missense 3/3 - 1
9-120476462-G-T c.2056G>T p.D686Y Missense 3/3 - 2
9-120476466-G-A c.2060G>A p.W687* Nonsense 3/3 - 2
9-120476467-G-A c.2061G>A p.W687* Nonsense 3/3 - 3
9-120476467-G-C c.2061G>C p.W687C Missense 3/3 - 1
9-120476467-G-T c.2061G>T p.W687C Missense 3/3 - 1
9-120476468-G-A c.2062G>A p.V688I Missense 3/3 - 1
9-120476471-AGG-TGT c.2065_2067delinsTGT p.R689C Missense 3/3 - 1
9-120476471-A-T c.2065A>T p.R689W Missense 3/3 - 1
9-120476472-G-A c.2066G>A p.R689K Missense 3/3 - 1
9-120476473-G-A c.2067G>A p.R689= Synonymous 3/3 - 4
9-120476475-A-G c.2069A>G p.N690S Missense 3/3 - 1
9-120476479-G-A c.2073G>A p.E691= Synonymous 3/3 - 4
9-120476480-C-A c.2074C>A p.L692I Missense 3/3 - 1
9-120476480-C-T c.2074C>T p.L692= Synonymous 3/3 - 1
9-120476482-A-C c.2076A>C p.L692= Synonymous 3/3 - 1
9-120476482-A-G c.2076A>G p.L692= Synonymous 3/3 - 2
9-120476482-A-T c.2076A>T p.L692= Synonymous 3/3 - 1
9-120476483-GTA-AAC c.2077_2079delinsAAC p.V693N Missense 3/3 - 3
9-120476483-GTA-ATG c.2077_2079delinsATG p.V693M Missense 3/3 - 2
9-120476486-AA-GC c.2080_2081delinsGC p.K694A Missense 3/3 - 1
9-120476486-AA-GG c.2080_2081delinsGG p.K694G Missense 3/3 - 1
9-120476487-A-G c.2081A>G p.K694R Missense 3/3 - 6
9-120476488-G-A c.2082G>A p.K694= Synonymous 3/3 - 7
9-120476488-G-C c.2082G>C p.K694N Missense 3/3 - 1
9-120476488-G-T c.2082G>T p.K694N Missense 3/3 - 1
9-120476495-G-A c.2089G>A p.E697K Missense 3/3 - 5
9-120476498-G-A c.2092G>A p.E698K Missense 3/3 - 2
9-120476501-G-A c.2095G>A p.G699R Missense 3/3 - 3
9-120476501-G-C c.2095G>C p.G699R Missense 3/3 - 4
9-120476501-G-T c.2095G>T p.G699W Missense 3/3 - 1
9-120476503-G-A c.2097G>A p.G699= Synonymous 3/3 - 1
9-120476505-T-C c.2099T>C p.V700A Missense 3/3 - 3
9-120476509-T-G c.2103T>G p.P701= Synonymous 3/3 - 1
9-120476510-C-T c.2104C>T p.P702S Missense 3/3 - 2
9-120476514-T-C c.2108T>C p.F703S Missense 3/3 - 1
9-120476514-T-G c.2108T>G p.F703C Missense 3/3 - 1
9-120476516-CA-GC c.2110_2111delinsGC p.Q704A Missense 3/3 - 1
9-120476516-C-T c.2110C>T p.Q704* Nonsense 3/3 - 6
9-120476521-C-T c.2115C>T p.L705= Synonymous 3/3 - 1
9-120476522-T-A c.2116T>A p.C706S Missense 3/3 - 1
9-120476522-TG-GC c.2116_2117delinsGC p.C706A Missense 3/3 - 1
9-120476523-G-C c.2117G>C p.C706S Missense 3/3 - 1
9-120476525-C-T c.2119C>T p.L707F Missense 3/3 - 1
9-120476527-T-C c.2121T>C p.L707= Synonymous 3/3 - 1
9-120476532-A-G c.2126A>G p.Y709C Missense 3/3 - 1
9-120476533-C-T c.2127C>T p.Y709= Synonymous 3/3 - 1
9-120476534-AG-GC c.2128_2129delinsGC p.R710A Missense 3/3 - 1
9-120476533-CAGAG-C c.2129_2132del p.R710Tfs*23 Frameshift 3/3 - 1
9-120476536-A-C c.2130A>C p.R710S Missense 3/3 - 2
9-120476536-A-T c.2130A>T p.R710S Missense 3/3 - 2
9-120476537-G-A c.2131G>A p.D711N Missense 3/3 - 3
9-120476537-G-T c.2131G>T p.D711Y Missense 3/3 - 10
9-120476539-C-A c.2133C>A p.D711E Missense 3/3 - 3
9-120476539-C-G c.2133C>G p.D711E Missense 3/3 - 2
9-120476545-T-A c.2139T>A p.I713= Synonymous 3/3 - 1
9-120476546-C-A c.2140C>A p.P714T Missense 3/3 - 1
9-120476546-C-G c.2140C>G p.P714A Missense 3/3 - 2
9-120476546-C-T c.2140C>T p.P714S Missense 3/3 - 7
9-120476547-C-A c.2141C>A p.P714H Missense 3/3 - 18
9-120476547-C-T c.2141C>T p.P714L Missense 3/3 - 1
9-120476548-C-A c.2142C>A p.P714= Synonymous 3/3 - 3
9-120476548-C-G c.2142C>G p.P714= Synonymous 3/3 - 1
9-120476548-C-T c.2142C>T p.P714= Synonymous 3/3 - 4
9-120476549-G-A c.2143G>A p.G715S Missense 3/3 - 2
9-120476549-GG-TT c.2143_2144delinsTT p.G715F Missense 3/3 - 1
9-120476550-G-A c.2144G>A p.G715D Missense 3/3 - 1
9-120476550-G-C c.2144G>C p.G715A Missense 3/3 - 2
9-120476550-G-T c.2144G>T p.G715V Missense 3/3 - 2
9-120476552-G-A c.2146G>A p.V716M Missense 3/3 - 1
9-120476556-C-A c.2150C>A p.A717D Missense 3/3 - 6
9-120476556-CC-AT c.2150_2151delinsAT p.A717D Missense 3/3 - 1
9-120476556-C-T c.2150C>T p.A717V Missense 3/3 - 4
9-120476557-C-A c.2151C>A p.A717= Synonymous 3/3 - 1
9-120476557-C-G c.2151C>G p.A717= Synonymous 3/3 - 1
9-120476557-C-T c.2151C>T p.A717= Synonymous 3/3 - 2
9-120476558-A-G c.2152A>G p.I718V Missense 3/3 - 1
9-120476558-AT-GC c.2152_2153delinsGC p.I718A Missense 3/3 - 2
9-120476560-T-G c.2154T>G p.I718M Missense 3/3 - 1
9-120476572-C-T c.2166C>T p.I722= Synonymous 3/3 - 2
9-120476573-A-C c.2167A>C p.I723L Missense 3/3 - 2
9-120476575-C-A c.2169C>A p.I723= Synonymous 3/3 - 1
9-120476576-C-A c.2170C>A p.H724N Missense 3/3 - 1
9-120476576-CA-GC c.2170_2171delinsGC p.H724A Missense 3/3 - 1
9-120476576-C-T c.2170C>T p.H724Y Missense 3/3 - 6
9-120476578-T-A c.2172T>A p.H724Q Missense 3/3 - 1
9-120476578-T-G c.2172T>G p.H724Q Missense 3/3 - 1
9-120476578-TGAA-T c.2174_2176del p.E725del InFrameDeletion 3/3 - 1
9-120476580-A-C c.2174A>C p.E725A Missense 3/3 - 1
9-120476582-G-A c.2176G>A p.G726S Missense 3/3 - 2
9-120476582-G-T c.2176G>T p.G726C Missense 3/3 - 1
9-120476583-G-A c.2177G>A p.G726D Missense 3/3 - 2
9-120476585-T-C c.2179T>C p.F727L Missense 3/3 - 1
9-120476585-T-G c.2179T>G p.F727V Missense 3/3 - 4
9-120476587-C-A c.2181C>A p.F727L Missense 3/3 - 1
9-120476587-C-G c.2181C>G p.F727L Missense 3/3 - 1
9-120476587-C-T c.2181C>T p.F727= Synonymous 3/3 - 4
9-120476588-C-A c.2182C>A p.H728N Missense 3/3 - 1
9-120476588-C-G c.2182C>G p.H728D Missense 3/3 - 1
9-120476588-C-T c.2182C>T p.H728Y Missense 3/3 - 2
9-120476589-A-C c.2183A>C p.H728P Missense 3/3 - 1
9-120476589-A-G c.2183A>G p.H728R Missense 3/3 - 1
9-120476591-AA-GC c.2185_2186delinsGC p.K729A Missense 3/3 - 1
9-120476591-A-G c.2185A>G p.K729E Missense 3/3 - 2
9-120476592-A-G c.2186A>G p.K729R Missense 3/3 - 1
9-120476593-A-AT c.2187_2188insT p.S730* Nonsense 3/3 - 2
9-120476593-A-G c.2187A>G p.K729= Synonymous 3/3 - 1
9-120476595-GC-G c.2191del p.R731Efs*3 Frameshift 3/3 - 1
9-120476597-C-A c.2191C>A p.R731= Synonymous 3/3 - 1
9-120476597-C-T c.2191C>T p.R731* Nonsense 3/3 - 4
9-120476598-G-A c.2192G>A p.R731Q Missense 3/3 - 10
9-120476598-G-T c.2192G>T p.R731L Missense 3/3 - 1
9-120476601-A-G c.2195A>G p.K732R Missense 3/3 - 1
9-120476602-G-T c.2196G>T p.K732N Missense 3/3 - 1
9-120476603-G-A c.2197G>A p.V733M Missense 3/3 - 6
9-120476603-G-C c.2197G>C p.V733L Missense 3/3 - 1
9-120476603-G-T c.2197G>T p.V733L Missense 3/3 - 1
9-120476605-G-A c.2199G>A p.V733= Synonymous 3/3 - 2
9-120476606-A-C c.2200A>C p.I734L Missense 3/3 - 1
9-120476607-T-C c.2201T>C p.I734T Missense 3/3 - 3
9-120476609-G-T c.2203G>T p.V735F Missense 3/3 - 1
9-120476610-T-G c.2204T>G p.V735G Missense 3/3 - 1
9-120476614-G-A c.2208G>A p.V736= Synonymous 3/3 - 1
9-120476614-G-C c.2208G>C p.V736= Synonymous 3/3 - 1
9-120476615-G-A c.2209G>A p.V737M Missense 3/3 - 1
9-120476615-G-C c.2209G>C p.V737L Missense 3/3 - 1
9-120476615-G-T c.2209G>T p.V737L Missense 3/3 - 1
9-120476617-G-T c.2211G>T p.V737= Synonymous 3/3 - 1
9-120476621-C-A c.2215C>A p.Q739K Missense 3/3 - 1
9-120476622-A-T c.2216A>T p.Q739L Missense 3/3 - 1
9-120476624-C-A c.2218C>A p.H740N Missense 3/3 - 2
9-120476625-A-AC c.2220dup p.F741Lfs*10 Frameshift 3/3 - 1
9-120476629-C-T c.2223C>T p.F741= Synonymous 3/3 - 2
9-120476633-C-A c.2227C>A p.Q743K Missense 3/3 - 2
9-120476633-CA-GC c.2227_2228delinsGC p.Q743A Missense 3/3 - 1
9-120476635-G-T c.2229G>T p.Q743H Missense 3/3 - 1
9-120476636-A-C c.2230A>C p.S744R Missense 3/3 - 3
9-120476638-C-A c.2232C>A p.S744R Missense 3/3 - 4
9-120476638-C-G c.2232C>G p.S744R Missense 3/3 - 3
9-120476639-C-T c.2233C>T p.R745C Missense 3/3 - 3
9-120476640-G-A c.2234G>A p.R745H Missense 3/3 - 1
9-120476640-G-C c.2234G>C p.R745P Missense 3/3 - 1
9-120476640-G-T c.2234G>T p.R745L Missense 3/3 - 2
9-120476641-C-T c.2235C>T p.R745= Synonymous 3/3 - 2
9-120476643-G-T c.2237G>T p.W746L Missense 3/3 - 1
9-120476644-G-C c.2238G>C p.W746C Missense 3/3 - 3
9-120476644-G-T c.2238G>T p.W746C Missense 3/3 - 3
9-120476645-T-A c.2239T>A p.C747S Missense 3/3 - 3
9-120476645-T-G c.2239T>G p.C747G Missense 3/3 - 1
9-120476645-TG-AC c.2239_2240delinsAC p.C747T Missense 3/3 - 1
9-120476645-TG-GC c.2239_2240delinsGC p.C747A Missense 3/3 - 1
9-120476645-TG-GT c.2239_2240delinsGT p.C747V Missense 3/3 - 1
9-120476646-G-C c.2240G>C p.C747S Missense 3/3 - 4
9-120476646-G-T c.2240G>T p.C747F Missense 3/3 - 1
9-120476650-C-G c.2244C>G p.I748M Missense 3/3 - 1
9-120476652-T-C c.2246T>C p.F749S Missense 3/3 - 1
9-120476654-G-T c.2248G>T p.E750* Nonsense 3/3 - 1
9-120476660-G-A c.2254G>A p.E752K Missense 3/3 - 2
9-120476663-AT-GC c.2257_2258delinsGC p.I753A Missense 3/3 - 1
9-120476663-AT-TA c.2257_2258delinsTA p.I753Y Missense 3/3 - 1
9-120476667-C-T c.2261C>T p.A754V Missense 3/3 - 1
9-120476669-C-A c.2263C>A p.Q755K Missense 3/3 - 1
9-120476669-CA-GC c.2263_2264delinsGC p.Q755A Missense 3/3 - 2
9-120476669-C-G c.2263C>G p.Q755E Missense 3/3 - 1
9-120476669-C-T c.2263C>T p.Q755* Nonsense 3/3 - 1
9-120476670-A-C c.2264A>C p.Q755P Missense 3/3 - 1
9-120476673-C-T c.2267C>T p.T756I Missense 3/3 - 1
9-120476674-C-A c.2268C>A p.T756= Synonymous 3/3 - 1
9-120476675-TG-GC c.2269_2270delinsGC p.W757A Missense 3/3 - 2
9-120476677-G-A c.2271G>A p.W757* Nonsense 3/3 - 3
9-120476678-CA-GC c.2272_2273delinsGC p.Q758A Missense 3/3 - 1
9-120476680-G-A c.2274G>A p.Q758= Synonymous 3/3 - 1
9-120476680-G-C c.2274G>C p.Q758H Missense 3/3 - 1
9-120476680-G-T c.2274G>T p.Q758H Missense 3/3 - 1
9-120476684-C-A c.2278C>A p.L760M Missense 3/3 - 1
9-120476684-C-G c.2278C>G p.L760V Missense 3/3 - 1
9-120476684-C-T c.2278C>T p.L760= Synonymous 3/3 - 5
9-120476685-T-C c.2279T>C p.L760P Missense 3/3 - 1
9-120476686-G-A c.2280G>A p.L760= Synonymous 3/3 - 1
9-120476686-G-C c.2280G>C p.L760= Synonymous 3/3 - 1
9-120476686-G-T c.2280G>T p.L760= Synonymous 3/3 - 1
9-120476687-AG-CC c.2281_2282delinsCC p.S761P Missense 3/3 - 1
9-120476688-G-A c.2282G>A p.S761N Missense 3/3 - 1
9-120476692-T-TC c.2287dup p.R763Pfs*57 Frameshift 3/3 - 1
9-120476693-CG-GC c.2287_2288delinsGC p.R763A Missense 3/3 - 1
9-120476693-C-T c.2287C>T p.R763C Missense 3/3 - 2
9-120476694-G-A c.2288G>A p.R763H Missense 3/3 - 11
9-120476694-G-T c.2288G>T p.R763L Missense 3/3 - 2
9-120476694-GT-AA c.2288_2289delinsAA p.R763Q Missense 3/3 - 1
9-120476697-C-A c.2291C>A p.A764D Missense 3/3 - 1
9-120476698-T-A c.2292T>A p.A764= Synonymous 3/3 - 1
9-120476702-A-G c.2296A>G p.I766V Missense 3/3 - 1
9-120476703-T-C c.2297T>C p.I766T Missense 3/3 - 1
9-120476704-C-T c.2298C>T p.I766= Synonymous 3/3 - 2
9-120476705-ATC-TAA c.2299_2301delinsTAA p.I767* Nonsense 3/3 - 1
9-120476708-T-C c.2302T>C p.F768L Missense 3/3 - 1
9-120476710-C-T c.2304C>T p.F768= Synonymous 3/3 - 1
9-120476716-C-A c.2310C>A p.V770= Synonymous 3/3 - 2
9-120476716-C-G c.2310C>G p.V770= Synonymous 3/3 - 2
9-120476716-C-T c.2310C>T p.V770= Synonymous 3/3 - 2
9-120476720-C-T c.2314C>T p.Q772* Nonsense 3/3 - 1
9-120476723-AA-GC c.2317_2318delinsGC p.K773A Missense 3/3 - 1
9-120476723-A-C c.2317A>C p.K773Q Missense 3/3 - 1
9-120476724-A-G c.2318A>G p.K773R Missense 3/3 - 1
9-120476725-G-A c.2319G>A p.K773= Synonymous 3/3 - 4
9-120476725-G-C c.2319G>C p.K773N Missense 3/3 - 1
9-120476726-G-A c.2320G>A p.V774M Missense 3/3 - 2
9-120476726-G-GT c.2321dup p.E775Gfs*45 Frameshift 3/3 - 1
9-120476728-G-C c.2322G>C p.V774= Synonymous 3/3 - 1
9-120476729-G-A c.2323G>A p.E775K Missense 3/3 - 2
9-120476732-AAG-GAC c.2326_2328delinsGAC p.K776D Missense 3/3 - 1
9-120476733-A-G c.2327A>G p.K776R Missense 3/3 - 2
9-120476734-G-T c.2328G>T p.K776N Missense 3/3 - 1
9-120476735-A-G c.2329A>G p.T777A Missense 3/3 - 1
9-120476737-C-A c.2331C>A p.T777= Synonymous 3/3 - 4
9-120476737-C-G c.2331C>G p.T777= Synonymous 3/3 - 3
9-120476737-C-T c.2331C>T p.T777= Synonymous 3/3 - 6
9-120476738-C-T c.2332C>T p.L778= Synonymous 3/3 - 1
9-120476740-G-T c.2334G>T p.L778= Synonymous 3/3 - 1
9-120476743-C-A c.2337C>A p.L779= Synonymous 3/3 - 2
9-120476743-C-G c.2337C>G p.L779= Synonymous 3/3 - 2
9-120476743-C-T c.2337C>T p.L779= Synonymous 3/3 - 1
9-120476746-G-C c.2340G>C p.R780S Missense 3/3 - 1
9-120476746-G-T c.2340G>T p.R780S Missense 3/3 - 1
9-120476747-C-A c.2341C>A p.Q781K Missense 3/3 - 1
9-120476747-C-T c.2341C>T p.Q781* Nonsense 3/3 - 1
9-120476748-A-G c.2342A>G p.Q781R Missense 3/3 - 4
9-120476749-G-T c.2343G>T p.Q781H Missense 3/3 - 2
9-120476752-G-C c.2346G>C p.Q782H Missense 3/3 - 1
9-120476752-G-T c.2346G>T p.Q782H Missense 3/3 - 1
9-120476753-G-C c.2347G>C p.V783L Missense 3/3 - 2
9-120476753-G-T c.2347G>T p.V783L Missense 3/3 - 1
9-120476755-G-A c.2349G>A p.V783= Synonymous 3/3 - 1
9-120476756-G-A c.2350G>A p.E784K Missense 3/3 - 3
9-120476760-T-A c.2354T>A p.L785Q Missense 3/3 - 1
9-120476760-T-G c.2354T>G p.L785R Missense 3/3 - 2
9-120476761-G-C c.2355G>C p.L785= Synonymous 3/3 - 1
9-120476762-T-C c.2356T>C p.Y786H Missense 3/3 - 3
9-120476763-A-G c.2357A>G p.Y786C Missense 3/3 - 2
9-120476765-CG-GC c.2359_2360delinsGC p.R787A Missense 3/3 - 1
9-120476765-C-T c.2359C>T p.R787C Missense 3/3 - 2
9-120476766-G-A c.2360G>A p.R787H Missense 3/3 - 3
9-120476767-C-T c.2361C>T p.R787= Synonymous 3/3 - 4
9-120476768-C-A c.2362C>A p.L788I Missense 3/3 - 2
9-120476768-C-G c.2362C>G p.L788V Missense 3/3 - 1
9-120476771-C-G c.2365C>G p.L789V Missense 3/3 - 3
9-120476773-C-T c.2367C>T p.L789= Synonymous 3/3 - 1
9-120476775-AG-A c.2369del p.S790Tfs*55 Frameshift 3/3 - 1
9-120476775-G-A c.2369G>A p.S790N Missense 3/3 - 2
9-120476774-A-C c.2368A>C p.S790R Missense 3/3 - 4
9-120476776-C-A c.2370C>A p.S790R Missense 3/3 - 7
9-120476776-C-G c.2370C>G p.S790R Missense 3/3 - 7
9-120476777-AG-CA c.2371_2372delinsCA p.R791Q Missense 3/3 - 2
9-120476778-G-T c.2372G>T p.R791M Missense 3/3 - 3
9-120476779-G-A c.2373G>A p.R791= Synonymous 3/3 - 3
9-120476780-AA-GC c.2374_2375delinsGC p.N792A Missense 3/3 - 1
9-120476786-TA-GC c.2380_2381delinsGC p.Y794A Missense 3/3 - 1
9-120476787-A-T c.2381A>T p.Y794F Missense 3/3 - 1
9-120476788-C-G c.2382C>G p.Y794* Nonsense 3/3 - 2
9-120476789-C-A c.2383C>A p.L795M Missense 3/3 - 1
9-120476789-C-T c.2383C>T p.L795= Synonymous 3/3 - 3
9-120476791-G-A c.2385G>A p.L795= Synonymous 3/3 - 2
9-120476791-G-C c.2385G>C p.L795= Synonymous 3/3 - 2
9-120476791-G-T c.2385G>T p.L795= Synonymous 3/3 - 2
9-120476792-G-A c.2386G>A p.E796K Missense 3/3 - 1
9-120476792-G-C c.2386G>C p.E796Q Missense 3/3 - 1
9-120476793-A-C c.2387A>C p.E796A Missense 3/3 - 1
9-120476793-A-G c.2387A>G p.E796G Missense 3/3 - 2
9-120476796-G-A c.2390G>A p.W797* Nonsense 3/3 - 1
9-120476797-G-A c.2391G>A p.W797* Nonsense 3/3 - 2
9-120476797-G-T c.2391G>T p.W797C Missense 3/3 - 2
9-120476798-G-A c.2392G>A p.E798K Missense 3/3 - 5
9-120476798-G-T c.2392G>T p.E798* Nonsense 3/3 - 4
9-120476799-A-C c.2393A>C p.E798A Missense 3/3 - 1
9-120476800-G-A c.2394G>A p.E798= Synonymous 3/3 - 5
9-120476800-G-C c.2394G>C p.E798D Missense 3/3 - 1
9-120476800-G-T c.2394G>T p.E798D Missense 3/3 - 1
9-120476801-G-A c.2395G>A p.D799N Missense 3/3 - 1
9-120476801-G-C c.2395G>C p.D799H Missense 3/3 - 1
9-120476810-C-T c.2404C>T p.L802= Synonymous 3/3 - 4
9-120476810-CT-TA c.2404_2405delinsTA p.L802* Nonsense 3/3 - 1
9-120476811-T-A c.2405T>A p.L802Q Missense 3/3 - 1
9-120476813-G-A c.2407G>A p.G803R Missense 3/3 - 3
9-120476813-G-C c.2407G>C p.G803R Missense 3/3 - 1
9-120476813-G-T c.2407G>T p.G803W Missense 3/3 - 2
9-120476814-G-A c.2408G>A p.G803E Missense 3/3 - 1
9-120476814-G-C c.2408G>C p.G803A Missense 3/3 - 1
9-120476816-C-G c.2410C>G p.R804G Missense 3/3 - 1
9-120476816-CG-TA c.2410_2411delinsTA p.R804* Nonsense 3/3 - 1
9-120476816-C-T c.2410C>T p.R804W Missense 3/3 - 13
9-120476817-G-A c.2411G>A p.R804Q Missense 3/3 - 9
9-120476819-CAC-TAA c.2413_2415delinsTAA p.H805* Nonsense 3/3 - 1
9-120476824-C-A c.2418C>A p.I806= Synonymous 3/3 - 1
9-120476825-T-G c.2419T>G p.F807V Missense 3/3 - 1
9-120476825-TT-GC c.2419_2420delinsGC p.F807A Missense 3/3 - 1
9-120476827-C-G c.2421C>G p.F807L Missense 3/3 - 1
9-120476827-C-T c.2421C>T p.F807= Synonymous 3/3 - 1
9-120476828-T-A c.2422T>A p.W808R Missense 3/3 - 2
9-120476829-G-A c.2423G>A p.W808* Nonsense 3/3 - 1
9-120476829-GG-TT c.2423_2424delinsTT p.W808F Missense 3/3 - 2
9-120476829-G-T c.2423G>T p.W808L Missense 3/3 - 1
9-120476830-G-A c.2424G>A p.W808* Nonsense 3/3 - 3
9-120476830-G-C c.2424G>C p.W808C Missense 3/3 - 1
9-120476830-G-T c.2424G>T p.W808C Missense 3/3 - 1
9-120476832-G-A c.2426G>A p.R809K Missense 3/3 - 4
9-120476832-G-T c.2426G>T p.R809I Missense 3/3 - 1
9-120476834-CGA-AGC c.2428_2430delinsAGC p.R810S Missense 3/3 - 1
9-120476834-C-T c.2428C>T p.R810* Nonsense 3/3 - 7
9-120476835-G-A c.2429G>A p.R810Q Missense 3/3 - 6
9-120476837-C-T c.2431C>T p.L811F Missense 3/3 - 1
9-120476838-T-A c.2432T>A p.L811H Missense 3/3 - 1
9-120476838-TC-AA c.2432_2433delinsAA p.L811Q Missense 3/3 - 1
9-120476840-A-T c.2434A>T p.R812* Nonsense 3/3 - 1
9-120476843-A-C c.2437A>C p.K813Q Missense 3/3 - 1
9-120476844-A-G c.2438A>G p.K813R Missense 3/3 - 2
9-120476846-G-A c.2440G>A p.A814T Missense 3/3 - 14
9-120476848-C-A c.2442C>A p.A814= Synonymous 3/3 - 4
9-120476848-C-G c.2442C>G p.A814= Synonymous 3/3 - 4
9-120476848-C-T c.2442C>T p.A814= Synonymous 3/3 - 3
9-120476849-C-T c.2443C>T p.L815= Synonymous 3/3 - 1
9-120476849-CT-GC c.2443_2444delinsGC p.L815A Missense 3/3 - 2
9-120476854-G-T c.2448G>T p.L816= Synonymous 3/3 - 1
9-120476858-G-A c.2452G>A p.G818S Missense 3/3 - 2
9-120476859-G-A c.2453G>A p.G818D Missense 3/3 - 1
9-120476859-G-C c.2453G>C p.G818A Missense 3/3 - 1
9-120476859-G-T c.2453G>T p.G818V Missense 3/3 - 1
9-120476862-A-G c.2456A>G p.K819R Missense 3/3 - 3
9-120476865-C-A c.2459C>A p.S820* Nonsense 3/3 - 2
9-120476865-C-G c.2459C>G p.S820* Nonsense 3/3 - 1
9-120476865-C-T c.2459C>T p.S820L Missense 3/3 - 7
9-120476868-G-A c.2462G>A p.W821* Nonsense 3/3 - 6
9-120476869-G-A c.2463G>A p.W821* Nonsense 3/3 - 1
9-120476869-G-C c.2463G>C p.W821C Missense 3/3 - 1
9-120476869-G-T c.2463G>T p.W821C Missense 3/3 - 1
9-120476873-C-A c.2467C>A p.P823T Missense 3/3 - 3
9-120476873-C-T c.2467C>T p.P823S Missense 3/3 - 1
9-120476874-C-G c.2468C>G p.P823R Missense 3/3 - 1
9-120476874-C-T c.2468C>T p.P823L Missense 3/3 - 1
9-120476876-G-C c.2470G>C p.E824Q Missense 3/3 - 3
9-120476879-G-A c.2473G>A p.G825R Missense 3/3 - 5
9-120476880-G-A c.2474G>A p.G825E Missense 3/3 - 9
9-120476882-A-C c.2476A>C p.T826P Missense 3/3 - 1
9-120476883-C-T c.2477C>T p.T826I Missense 3/3 - 2
9-120476884-A-G c.2478A>G p.T826= Synonymous 3/3 - 1
9-120476885-G-A c.2479G>A p.V827M Missense 3/3 - 1
9-120476888-G-A c.2482G>A p.G828S Missense 3/3 - 5
9-120476891-A-C c.2485A>C p.T829P Missense 3/3 - 1
9-120476894-G-A c.2488G>A p.G830R Missense 3/3 - 1
9-120476894-G-C c.2488G>C p.G830R Missense 3/3 - 1
9-120476895-G-A c.2489G>A p.G830E Missense 3/3 - 9
9-120476897-TG-GC c.2491_2492delinsGC p.C831A Missense 3/3 - 1
9-120476901-A-T c.2495A>T p.N832I Missense 3/3 - 1
9-120476902-T-C c.2496T>C p.N832= Synonymous 3/3 - 1
9-120476904-G-T c.2498G>T p.W833L Missense 3/3 - 1
9-120476906-C-A c.2500C>A p.Q834K Missense 3/3 - 4
9-120476906-C-T c.2500C>T p.Q834* Nonsense 3/3 - 1
9-120476907-A-G c.2501A>G p.Q834R Missense 3/3 - 1
9-120476909-G-A c.2503G>A p.E835K Missense 3/3 - 5
9-120476913-C-T c.2507C>T p.A836V Missense 3/3 - 1
9-120476915-A-G c.2509A>G p.T837A Missense 3/3 - 1
9-120476919-C-G c.2513C>G p.S838C Missense 3/3 - 1
9-120477674-A-G c.*748A>G - 3-UTRSNV 3/3 - 3
9-120477862-C-T c.*936C>T - 3-UTRSNV 3/3 - 1
9-120477933-G-C c.*1007G>C - 3-UTRSNV 3/3 - 3
9-120478032-C-T c.*1106C>T - 3-UTRSNV 3/3 - 19
9-120478042-C-A c.*1116C>A - 3-UTRSNV 3/3 - 6
9-120478131-G-C c.*1205G>C - 3-UTRSNV 3/3 - 136
9-120478146-T-C c.*1220T>C - 3-UTRSNV 3/3 - 1
9-120478936-G-A c.*2010G>A - 3-UTRSNV 3/3 - 58
9-120478936-G-C c.*2010G>C - 3-UTRSNV 3/3 - 58
9-120478936-G-T c.*2010G>T - 3-UTRSNV 3/3 - 58
9-120479337-T-C c.*2411T>C - 3-UTRSNV 3/3 - 25
9-120479482-G-A c.*2556G>A - 3-UTRSNV 3/3 - 1
9-120479734-T-C c.*2808T>C - 3-UTRSNV 3/3 - 5
9-120480010-G-A c.*3084G>A - IntergenicSNV 3/3 - 12
9-120480115-T-C c.*3189T>C - IntergenicSNV 3/3 - 20
9-120480210-C-A c.*3284C>A - IntergenicSNV 3/3 - 25
9-120480812-T-C c.*3886T>C - IntergenicSNV 3/3 - 44
9-120481397-T-A c.*4471T>A - IntergenicSNV 3/3 - 7
9-120481856-G-T c.*4930G>T - IntergenicSNV 3/3 - 12
9-120482940-T-C c.*6014T>C - IntergenicSNV 3/3 - 5
9-120483103-A-G c.*6177A>G - IntergenicSNV 3/3 - 2
9-120483639-C-T c.*6713C>T - IntergenicSNV 3/3 - 2
9-120483663-A-G c.*6737A>G - IntergenicSNV 3/3 - 20
9-120483776-G-A c.*6850G>A - IntergenicSNV 3/3 - 5
9-120483776-G-T c.*6850G>T - IntergenicSNV 3/3 - 5
9-120484009-G-A c.*7083G>A - IntergenicSNV 3/3 - 9
9-120484159-T-C c.*7233T>C - IntergenicSNV 3/3 - 1
9-120485215-A-C c.*8289A>C - IntergenicSNV 3/3 - 1
9-120485308-T-C c.*8382T>C - IntergenicSNV 3/3 - 5
9-120485795-A-G c.*8869A>G - IntergenicSNV 3/3 - 21