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 |