ABCA1 ATP binding cassette subfamily A member 1

Annotation transcript: NM_005502.4

2833 unique variant annotations were identified in 785 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
9-107544685-G-A c.*1911C>T - 3-UTRSNV 50/50 - 1
9-107544700-C-T c.*1896G>A - 3-UTRSNV 50/50 - 7
9-107545156-G-A c.*1440C>T - 3-UTRSNV 50/50 - 6
9-107545903-G-A c.*693C>T - 3-UTRSNV 50/50 - 5
9-107546546-G-A c.*50C>T - 3-UTRSNV 50/50 - 1
9-107546551-T-A c.*45A>T - 3-UTRSNV 50/50 - 1
9-107546551-T-C c.*45A>G - 3-UTRSNV 50/50 - 1
9-107546554-A-G c.*42T>C - 3-UTRSNV 50/50 - 1
9-107546556-T-C c.*40A>G - 3-UTRSNV 50/50 - 1
9-107546564-T-C c.*32A>G - 3-UTRSNV 50/50 - 1
9-107546570-C-T c.*26G>A - 3-UTRSNV 50/50 - 1
9-107546574-C-T c.*22G>A - 3-UTRSNV 50/50 - 1
9-107546576-C-T c.*20G>A - 3-UTRSNV 50/50 - 1
9-107546577-C-A c.*19G>T - 3-UTRSNV 50/50 - 1
9-107546579-C-T c.*17G>A - 3-UTRSNV 50/50 - 1
9-107546580-G-A c.*16C>T - 3-UTRSNV 50/50 - 1
9-107546599-T-A c.6783A>T p.V2261= Synonymous 50/50 - 1
9-107546599-T-C c.6783A>G p.V2261= Synonymous 50/50 - 1
9-107546602-A-G c.6780T>C p.Y2260= Synonymous 50/50 - 1
9-107546603-T-C c.6779A>G p.Y2260C Missense 50/50 - 1
9-107546605-G-A c.6777C>T p.S2259= Synonymous 50/50 - 1
9-107546609-T-C c.6773A>G p.E2258G Missense 50/50 - 1
9-107546609-T-G c.6773A>C p.E2258A Missense 50/50 - 1
9-107546610-C-T c.6772G>A p.E2258K Missense 50/50 - 1
9-107546610-C-A c.6772G>T p.E2258* Nonsense 50/50 - 1
9-107546613-T-G c.6769A>C p.K2257Q Missense 50/50 - 1
9-107546614-C-T c.6768G>A p.V2256= Synonymous 50/50 - 1
9-107546618-T-A c.6764A>T p.K2255I Missense 50/50 - 1
9-107546618-T-C c.6764A>G p.K2255R Missense 50/50 - 1
9-107546625-C-T c.6757G>A p.D2253N Missense 50/50 - 1
9-107546627-T-C c.6755A>G p.Q2252R Missense 50/50 - 1
9-107546629-T-G c.6753A>C p.L2251= Synonymous 50/50 - 1
9-107546630-AG-GC c.6751_6752delinsGC p.L2251A Missense 50/50 - 1
9-107546635-A-G c.6747T>C p.S2249= Synonymous 50/50 - 1
9-107546637-A-G c.6745T>C p.S2249P Missense 50/50 - 1
9-107546638-T-C c.6744A>G p.T2248= Synonymous 50/50 - 1
9-107546639-G-T c.6743C>A p.T2248K Missense 50/50 - 1
9-107546642-AG-GC c.6739_6740delinsGC p.L2247A Missense 50/50 - 2
9-107546647-T-A c.6735A>T p.A2245= Synonymous 50/50 - 1
9-107546651-A-T c.6731T>A p.V2244D Missense 50/50 - 1
9-107546652-C-T c.6730G>A p.V2244I Missense 50/50 - 2
9-107546653-G-A c.6729C>T p.D2243= Synonymous 50/50 - 1
9-107546653-G-T c.6729C>A p.D2243E Missense 50/50 - 1
9-107546660-A-G c.6722T>C p.V2241A Missense 50/50 - 1
9-107546661-C-T c.6721G>A p.V2241I Missense 50/50 - 1
9-107546665-CTG-GTT c.6715_6717delinsAAC p.Q2239N Missense 50/50 - 1
9-107546666-CT-C c.6716del p.Q2239Rfs*3 Frameshift 50/50 - 1
9-107546667-G-A c.6715C>T p.Q2239* Nonsense 50/50 - 1
9-107546668-G-A c.6714C>T p.N2238= Synonymous 50/50 - 1
9-107546670-T-G c.6712A>C p.N2238H Missense 50/50 - 1
9-107546677-T-C c.6705A>G p.L2235= Synonymous 50/50 - 1
9-107546681-G-A c.6701C>T p.S2234L Missense 50/50 - 1
9-107546686-G-A c.6696C>T p.D2232= Synonymous 50/50 - 1
9-107546687-T-C c.6695A>G p.D2232G Missense 50/50 - 1
9-107546688-C-A c.6694G>T p.D2232Y Missense 50/50 - 1
9-107546688-C-T c.6694G>A p.D2232N Missense 50/50 - 1
9-107546689-T-C c.6693A>G p.K2231= Synonymous 50/50 - 1
9-107546691-T-G c.6691A>C p.K2231Q Missense 50/50 - 1
9-107546692-T-C c.6690A>G p.L2230= Synonymous 50/50 - 1
9-107546693-A-C c.6689T>G p.L2230* Nonsense 50/50 - 1
9-107546695-G-C c.6687C>G p.H2229Q Missense 50/50 - 1
9-107546697-G-A c.6685C>T p.H2229Y Missense 50/50 - 1
9-107546698-G-A c.6684C>T p.D2228= Synonymous 50/50 - 1
9-107546700-C-T c.6682G>A p.D2228N Missense 50/50 - 1
9-107546702-T-A c.6680A>T p.D2227V Missense 50/50 - 1
9-107546706-C-A c.6676G>T p.D2226Y Missense 50/50 - 1
9-107546706-C-G c.6676G>C p.D2226H Missense 50/50 - 1
9-107546707-A-G c.6675T>C p.S2225= Synonymous 50/50 - 1
9-107546708-C-A c.6674G>T p.S2225I Missense 50/50 - 1
9-107546713-G-T c.6669C>A p.D2223E Missense 50/50 - 1
9-107546716-C-T c.6666G>A p.K2222= Synonymous 50/50 - 1
9-107546719-G-A c.6663C>T p.A2221= Synonymous 50/50 - 1
9-107546728-C-A c.6654G>T p.V2218= Synonymous 50/50 - 1
9-107546728-C-G c.6654G>C p.V2218= Synonymous 50/50 - 1
9-107546730-C-T c.6652G>A p.V2218M Missense 50/50 - 1
9-107546733-A-T c.6649T>A p.F2217I Missense 50/50 - 1
9-107547622-C-G c.6645+55G>C - IntronicSNV - 49/49 3
9-107547622-C-T c.6645+55G>A - IntronicSNV - 49/49 3
9-107547677-T-C c.6645A>G p.Q2215= Synonymous 49/50 - 1
9-107547685-G-C c.6637C>G p.L2213V Missense 49/50 - 1
9-107547687-G-A c.6635C>T p.T2212I Missense 49/50 - 2
9-107547688-T-C c.6634A>G p.T2212A Missense 49/50 - 1
9-107547692-C-A c.6630G>T p.Q2210H Missense 49/50 - 1
9-107547692-C-G c.6630G>C p.Q2210H Missense 49/50 - 1
9-107547696-G-A c.6626C>T p.S2209F Missense 49/50 - 1
9-107547705-T-C c.6617A>G p.Y2206C Missense 49/50 - 1
9-107547707-G-A c.6615C>T p.D2205= Synonymous 49/50 - 1
9-107547710-T-G c.6612A>C p.E2204D Missense 49/50 - 1
9-107547713-T-G c.6609A>C p.I2203= Synonymous 49/50 - 1
9-107547715-T-G c.6607A>C p.I2203L Missense 49/50 - 1
9-107547716-G-C c.6606C>G p.H2202Q Missense 49/50 - 1
9-107547718-G-A c.6604C>T p.H2202Y Missense 49/50 - 1
9-107547721-G-A c.6601C>T p.L2201F Missense 49/50 - 1
9-107547723-C-T c.6599G>A p.R2200Q Missense 49/50 - 2
9-107547724-G-A c.6598C>T p.R2200* Nonsense 49/50 - 3
9-107547730-T-C c.6592A>G p.K2198E Missense 49/50 - 1
9-107547731-G-C c.6591C>G p.S2197R Missense 49/50 - 1
9-107547731-G-T c.6591C>A p.S2197R Missense 49/50 - 1
9-107547733-T-G c.6589A>C p.S2197R Missense 49/50 - 1
9-107547732-C-T c.6590G>A p.S2197N Missense 49/50 - 1
9-107547734-C-G c.6588G>C p.Q2196H Missense 49/50 - 1
9-107547742-G-A c.6580C>T p.L2194F Missense 49/50 - 1
9-107547745-T-G c.6577A>C p.I2193L Missense 49/50 - 1
9-107547746-G-A c.6576C>T p.S2192= Synonymous 49/50 - 1
9-107547747-C-A c.6575G>T p.S2192I Missense 49/50 - 1
9-107547747-C-T c.6575G>A p.S2192N Missense 49/50 - 1
9-107547750-A-C c.6572T>G p.F2191C Missense 49/50 - 1
9-107547757-T-C c.6565A>G p.R2189G Missense 49/50 - 1
9-107547762-A-G c.6560T>C p.L2187P Missense 49/50 - 1
9-107547762-A-T c.6560T>A p.L2187Q Missense 49/50 - 1
9-107547765-G-A c.6557C>T p.S2186F Missense 49/50 - 1
9-107547767-A-C c.6555T>G p.S2185= Synonymous 49/50 - 1
9-107547768-G-A c.6554C>T p.S2185F Missense 49/50 - 1
9-107547770-T-C c.6552A>G p.L2184= Synonymous 49/50 - 1
9-107547777-G-T c.6545C>A p.S2182Y Missense 49/50 - 1
9-107547777-G-A c.6545C>T p.S2182F Missense 49/50 - 1
9-107547777-G-C c.6545C>G p.S2182C Missense 49/50 - 1
9-107547779-T-C c.6543A>G p.P2181= Synonymous 49/50 - 1
9-107547781-G-A c.6541C>T p.P2181S Missense 49/50 - 1
9-107547788-G-A c.6534C>T p.Y2178= Synonymous 49/50 - 1
9-107547790-TA-T c.6532del p.Y2178Tfs*26 Frameshift 49/50 - 1
9-107547795-A-G c.6527T>C p.L2176P Missense 49/50 - 1
9-107547804-C-T c.6518G>A p.R2173Q Missense 49/50 - 2
9-107547805-G-A c.6517C>T p.R2173W Missense 49/50 - 1
9-107547805-G-C c.6517C>G p.R2173G Missense 49/50 - 1
9-107547805-G-T c.6517C>A p.R2173= Synonymous 49/50 - 1
9-107547809-T-C c.6513A>G p.K2171= Synonymous 49/50 - 1
9-107547815-T-C c.6507A>G p.K2169= Synonymous 49/50 - 1
9-107547817-T-G c.6505A>C p.K2169Q Missense 49/50 - 1
9-107547818-T-C c.6504A>G p.L2168= Synonymous 49/50 - 1
9-107547822-A-G c.6500T>C p.V2167A Missense 49/50 - 1
9-107547823-C-A c.6499G>T p.V2167F Missense 49/50 - 1
9-107547827-T-C c.6495A>G p.G2165= Synonymous 49/50 - 1
9-107547832-G-A c.6490C>T p.P2164S Missense 49/50 - 1
9-107547836-T-C c.6486A>G p.A2162= Synonymous 49/50 - 1
9-107547837-G-C c.6485C>G p.A2162G Missense 49/50 - 1
9-107547839-A-T c.6483T>A p.L2161= Synonymous 49/50 - 1
9-107547843-C-T c.6479G>A p.G2160E Missense 49/50 - 1
9-107547843-C-G c.6479G>C p.G2160A Missense 49/50 - 1
9-107547844-C-T c.6478G>A p.G2160R Missense 49/50 - 1
9-107547844-C-G c.6478G>C p.G2160R Missense 49/50 - 1
9-107547852-T-C c.6470A>G p.D2157G Missense 49/50 - 1
9-107547853-C-T c.6469G>A p.D2157N Missense 49/50 - 1
9-107547853-C-G c.6469G>C p.D2157H Missense 49/50 - 1
9-107547857-G-C c.6465C>G p.V2155= Synonymous 49/50 - 1
9-107547871-C-T c.6451G>A p.D2151N Missense 49/50 - 1
9-107547872-C-T c.6450G>A p.P2150= Synonymous 49/50 - 1
9-107547873-G-A c.6449C>T p.P2150L Missense 49/50 - 3
9-107547873-G-C c.6449C>G p.P2150R Missense 49/50 - 1
9-107547874-G-C c.6448C>G p.P2150A Missense 49/50 - 1
9-107547875-G-A c.6447C>T p.N2149= Synonymous 49/50 - 1
9-107547875-G-T c.6447C>A p.N2149K Missense 49/50 - 1
9-107547876-T-C c.6446A>G p.N2149S Missense 49/50 - 1
9-107547881-C-A c.6441G>T p.G2147= Synonymous 49/50 - 1
9-107547882-C-T c.6440G>A p.G2147E Missense 49/50 - 1
9-107547884-T-C c.6438A>G p.A2146= Synonymous 49/50 - 1
9-107547889-T-C c.6433A>G p.I2145V Missense 49/50 - 2
9-107547891-C-T c.6431G>A p.R2144Q Missense 49/50 - 1
9-107547892-G-A c.6430C>T p.R2144* Nonsense 49/50 - 6
9-107547893-T-G c.6429A>C p.V2143= Synonymous 49/50 - 1
9-107547893-T-C c.6429A>G p.V2143= Synonymous 49/50 - 1
9-107547893-T-A c.6429A>T p.V2143= Synonymous 49/50 - 1
9-107547896-A-C c.6426T>G p.V2142= Synonymous 49/50 - 1
9-107547897-A-G c.6425T>C p.V2142A Missense 49/50 - 1
9-107547901-T-C c.6421A>G p.I2141V Missense 49/50 - 1
9-107547912-T-C c.6410A>G p.D2137G Missense 49/50 - 1
9-107548375-C-A c.6401+204G>T - IntronicSNV - 48/49 1
9-107548462-T-C c.6401+117A>G - IntronicSNV - 48/49 1
9-107548569-T-C c.6401+10A>G - IntronicSNV - 48/49 1
9-107548577-A-G c.6401+2T>C - IntronicSNV - 48/49 1
9-107548581-A-G c.6399T>C p.N2133= Synonymous 48/50 - 1
9-107548583-T-A c.6397A>T p.N2133Y Missense 48/50 - 1
9-107548585-T-G c.6395A>C p.K2132T Missense 48/50 - 1
9-107548581-A-AT c.6398dup p.N2133Kfs*2 Frameshift 48/50 - 1
9-107548594-T-G c.6386A>C p.Q2129P Missense 48/50 - 1
9-107548596-G-A c.6384C>T p.V2128= Synonymous 48/50 - 1
9-107548596-G-T c.6384C>A p.V2128= Synonymous 48/50 - 1
9-107548600-C-T c.6380G>A p.S2127N Missense 48/50 - 1
9-107548604-C-A c.6376G>T p.G2126C Missense 48/50 - 1
9-107548608-G-T c.6372C>A p.C2124* Nonsense 48/50 - 1
9-107548610-A-C c.6370T>G p.C2124G Missense 48/50 - 1
9-107548616-A-C c.6364T>G p.F2122V Missense 48/50 - 1
9-107548622-C-T c.6358G>A p.G2120R Missense 48/50 - 1
9-107548634-T-C c.6346A>G p.I2116V Missense 48/50 - 1
9-107548635-T-C c.6345A>G p.A2115= Synonymous 48/50 - 1
9-107548635-T-G c.6345A>C p.A2115= Synonymous 48/50 - 1
9-107548635-T-A c.6345A>T p.A2115= Synonymous 48/50 - 1
9-107548637-C-T c.6343G>A p.A2115T Missense 48/50 - 1
9-107548643-T-C c.6337A>G p.R2113G Missense 48/50 - 1
9-107548650-A-C c.6330T>G p.L2110= Synonymous 48/50 - 1
9-107548650-A-G c.6330T>C p.L2110= Synonymous 48/50 - 1
9-107548652-G-C c.6328C>G p.L2110V Missense 48/50 - 1
9-107548655-C-T c.6325G>A p.A2109T Missense 48/50 - 2
9-107548659-A-G c.6321T>C p.C2107= Synonymous 48/50 - 1
9-107548660-C-T c.6320G>A p.C2107Y Missense 48/50 - 1
9-107548661-A-G c.6319T>C p.C2107R Missense 48/50 - 1
9-107548664-C-T c.6316G>A p.E2106K Missense 48/50 - 1
9-107548664-C-A c.6316G>T p.E2106* Nonsense 48/50 - 1
9-107548665-T-G c.6315A>C p.E2105D Missense 48/50 - 1
9-107548665-T-A c.6315A>T p.E2105D Missense 48/50 - 1
9-107549160-G-A c.6302C>T p.S2101F Missense 47/50 - 1
9-107549168-C-T c.6294G>A p.V2098= Synonymous 47/50 - 1
9-107549168-C-G c.6294G>C p.V2098= Synonymous 47/50 - 1
9-107549168-C-A c.6294G>T p.V2098= Synonymous 47/50 - 1
9-107549177-T-G c.6285A>C p.R2095S Missense 47/50 - 1
9-107549183-C-G c.6279G>C p.E2093D Missense 47/50 - 1
9-107549189-G-A c.6273C>T p.V2091= Synonymous 47/50 - 1
9-107549191-C-T c.6271G>A p.V2091I Missense 47/50 - 3
9-107549196-C-T c.6266G>A p.S2089N Missense 47/50 - 1
9-107549198-T-C c.6264A>G p.L2088= Synonymous 47/50 - 1
9-107549201-G-A c.6261C>T p.A2087= Synonymous 47/50 - 1
9-107549202-G-A c.6260C>T p.A2087V Missense 47/50 - 1
9-107549205-C-T c.6257G>A p.C2086Y Missense 47/50 - 1
9-107549207-A-C c.6255T>G p.N2085K Missense 47/50 - 1
9-107549207-A-T c.6255T>A p.N2085K Missense 47/50 - 1
9-107549213-C-T c.6249G>A p.L2083= Synonymous 47/50 - 1
9-107549220-C-T c.6242G>A p.R2081Q Missense 47/50 - 1
9-107549221-G-A c.6241C>T p.R2081W Missense 47/50 - 2
9-107549223-C-T c.6239G>A p.R2080Q Missense 47/50 - 1
9-107549224-G-A c.6238C>T p.R2080W Missense 47/50 - 1
9-107549224-G-T c.6238C>A p.R2080= Synonymous 47/50 - 1
9-107549244-G-A c.6218C>T p.T2073I Missense 47/50 - 1
9-107549246-G-A c.6216C>T p.T2072= Synonymous 47/50 - 1
9-107549246-G-T c.6216C>A p.T2072= Synonymous 47/50 - 1
9-107549251-G-A c.6211C>T p.P2071S Missense 47/50 - 1
9-107549252-T-C c.6210A>G p.E2070= Synonymous 47/50 - 1
9-107550201-C-G c.6204G>C p.L2068= Synonymous 46/50 - 2
9-107550212-C-T c.6193G>A p.V2065M Missense 46/50 - 1
9-107550218-G-A c.6187C>T p.P2063S Missense 46/50 - 1
9-107550221-C-T c.6184G>A p.G2062R Missense 46/50 - 1
9-107550222-G-A c.6183C>T p.G2061= Synonymous 46/50 - 2
9-107550224-C-T c.6181G>A p.G2061S Missense 46/50 - 1
9-107550225-G-A c.6180C>T p.I2060= Synonymous 46/50 - 1
9-107550231-A-C c.6174T>G p.A2058= Synonymous 46/50 - 1
9-107550233-C-T c.6172G>A p.A2058T Missense 46/50 - 1
9-107550235-A-G c.6170T>C p.M2057T Missense 46/50 - 1
9-107550236-T-C c.6169A>G p.M2057V Missense 46/50 - 1
9-107550242-T-A c.6163A>T p.T2055S Missense 46/50 - 1
9-107550242-T-C c.6163A>G p.T2055A Missense 46/50 - 1
9-107550244-G-C c.6161C>G p.S2054C Missense 46/50 - 1
9-107550246-G-A c.6159C>T p.L2053= Synonymous 46/50 - 1
9-107550253-C-T c.6152G>A p.R2051H Missense 46/50 - 1
9-107550254-G-A c.6151C>T p.R2051C Missense 46/50 - 1
9-107550258-G-A c.6147C>T p.N2049= Synonymous 46/50 - 1
9-107550262-C-T c.6143G>A p.G2048D Missense 46/50 - 1
9-107550267-A-T c.6138T>A p.S2046R Missense 46/50 - 3
9-107550267-A-C c.6138T>G p.S2046R Missense 46/50 - 3
9-107550269-T-G c.6136A>C p.S2046R Missense 46/50 - 3
9-107550273-G-A c.6132C>T p.N2044= Synonymous 46/50 - 1
9-107550274-T-C c.6131A>G p.N2044S Missense 46/50 - 1
9-107550275-T-A c.6130A>T p.N2044Y Missense 46/50 - 1
9-107550280-G-A c.6125C>T p.A2042V Missense 46/50 - 1
9-107550281-C-T c.6124G>A p.A2042T Missense 46/50 - 1
9-107550284-A-C c.6121T>G p.Y2041D Missense 46/50 - 1
9-107550287-T-C c.6118A>G p.K2040E Missense 46/50 - 1
9-107550287-T-G c.6118A>C p.K2040Q Missense 46/50 - 1
9-107550293-C-T c.6112G>A p.G2038R Missense 46/50 - 1
9-107550298-T-A c.6107A>T p.K2036M Missense 46/50 - 1
9-107550302-C-T c.6103G>A p.V2035M Missense 46/50 - 1
9-107550303-G-A c.6102C>T p.L2034= Synonymous 46/50 - 2
9-107550303-G-T c.6102C>A p.L2034= Synonymous 46/50 - 1
9-107550311-G-C c.6094C>G p.L2032V Missense 46/50 - 1
9-107550311-G-T c.6094C>A p.L2032M Missense 46/50 - 1
9-107550312-TTT-ACA c.6091_6093delinsTGT p.K2031C Missense 46/50 - 1
9-107550316-C-T c.6089G>A p.R2030Q Missense 46/50 - 1
9-107550317-G-A c.6088C>T p.R2030W Missense 46/50 - 1
9-107550318-A-G c.6087T>C p.I2029= Synonymous 46/50 - 1
9-107550318-A-T c.6087T>A p.I2029= Synonymous 46/50 - 1
9-107550321-C-T c.6084G>A p.A2028= Synonymous 46/50 - 1
9-107550321-C-G c.6084G>C p.A2028= Synonymous 46/50 - 1
9-107550321-C-A c.6084G>T p.A2028= Synonymous 46/50 - 1
9-107550322-G-A c.6083C>T p.A2028V Missense 46/50 - 2
9-107550323-C-A c.6082G>T p.A2028S Missense 46/50 - 1
9-107550326-A-G c.6079T>C p.W2027R Missense 46/50 - 1
9-107550328-T-C c.6077A>G p.E2026G Missense 46/50 - 1
9-107550639-A-G c.6069+68T>C - IntronicSNV - 45/49 1
9-107550709-T-C c.6067A>G p.K2023E Missense 45/50 - 1
9-107550710-G-A c.6066C>T p.G2022= Synonymous 45/50 - 1
9-107550710-G-C c.6066C>G p.G2022= Synonymous 45/50 - 1
9-107550711-C-G c.6065G>C p.G2022A Missense 45/50 - 1
9-107550712-C-A c.6064G>T p.G2022C Missense 45/50 - 1
9-107550714-A-G c.6062T>C p.V2021A Missense 45/50 - 1
9-107550718-C-T c.6058G>A p.E2020K Missense 45/50 - 1
9-107550719-T-G c.6057A>C p.K2019N Missense 45/50 - 1
9-107550722-C-A c.6054G>T p.E2018D Missense 45/50 - 1
9-107550723-T-G c.6053A>C p.E2018A Missense 45/50 - 1
9-107550724-C-A c.6052G>T p.E2018* Nonsense 45/50 - 1
9-107550728-G-A c.6048C>T p.V2016= Synonymous 45/50 - 1
9-107550732-C-T c.6044G>A p.G2015E Missense 45/50 - 1
9-107550735-C-T c.6041G>A p.R2014K Missense 45/50 - 1
9-107550738-A-T c.6038T>A p.L2013* Nonsense 45/50 - 1
9-107550741-A-C c.6035T>G p.L2012R Missense 45/50 - 1
9-107550741-A-G c.6035T>C p.L2012P Missense 45/50 - 1
9-107550742-G-A c.6034C>T p.L2012F Missense 45/50 - 1
9-107550745-C-T c.6031G>A p.A2011T Missense 45/50 - 2
9-107550750-A-G c.6026T>C p.F2009S Missense 45/50 - 4
9-107550757-C-A c.6019G>T p.V2007L Missense 45/50 - 1
9-107550757-C-G c.6019G>C p.V2007L Missense 45/50 - 1
9-107550757-C-T c.6019G>A p.V2007M Missense 45/50 - 1
9-107550758-G-A c.6018C>T p.H2006= Synonymous 45/50 - 1
9-107550760-G-A c.6016C>T p.H2006Y Missense 45/50 - 1
9-107550763-C-T c.6013G>A p.E2005K Missense 45/50 - 1
9-107550765-C-T c.6011G>A p.R2004K Missense 45/50 - 2
9-107550766-T-C c.6010A>G p.R2004G Missense 45/50 - 1
9-107550767-C-T c.6009G>A p.G2003= Synonymous 45/50 - 1
9-107550779-C-T c.5997G>A p.E1999= Synonymous 45/50 - 1
9-107550787-T-C c.5989A>G p.I1997V Missense 45/50 - 1
9-107550801-G-A c.5975C>T p.P1992L Missense 45/50 - 1
9-107550809-G-T c.5967C>A p.G1989= Synonymous 45/50 - 1
9-107550810-C-T c.5966G>A p.G1989D Missense 45/50 - 1
9-107550811-C-T c.5965G>A p.G1989S Missense 45/50 - 1
9-107550812-C-G c.5964G>C p.M1988I Missense 45/50 - 1
9-107550814-T-C c.5962A>G p.M1988V Missense 45/50 - 1
9-107550814-T-G c.5962A>C p.M1988L Missense 45/50 - 1
9-107550817-T-C c.5959A>G p.N1987D Missense 45/50 - 1
9-107550817-T-G c.5959A>C p.N1987H Missense 45/50 - 1
9-107550820-G-C c.5956C>G p.Q1986E Missense 45/50 - 1
9-107550820-G-T c.5956C>A p.Q1986K Missense 45/50 - 1
9-107550822-T-G c.5954A>C p.H1985P Missense 45/50 - 1
9-107550823-G-A c.5953C>T p.H1985Y Missense 45/50 - 1
9-107550826-C-T c.5950G>A p.V1984I Missense 45/50 - 1
9-107550828-T-G c.5948A>C p.E1983A Missense 45/50 - 1
9-107550829-C-T c.5947G>A p.E1983K Missense 45/50 - 1
9-107550836-G-A c.5940C>T p.N1980= Synonymous 45/50 - 1
9-107550842-T-C c.5934A>G p.L1978= Synonymous 45/50 - 1
9-107550848-A-G c.5928T>C p.S1976= Synonymous 45/50 - 1
9-107550853-A-T c.5928-5T>A - IntronicSNV - 44/49 1
9-107551180-C-T c.5928-332G>A - IntronicSNV - 44/49 2
9-107551538-C-T c.5928-690G>A - IntronicSNV - 44/49 2
9-107552924-A-G c.5927+279T>C - IntronicSNV - 44/49 1
9-107553185-A-G c.5927+18T>C - IntronicSNV - 44/49 2
9-107553203-C-G c.5927G>C p.S1976T Missense 44/50 - 1
9-107553206-T-A c.5924A>T p.N1975I Missense 44/50 - 1
9-107553211-G-T c.5919C>A p.N1973K Missense 44/50 - 1
9-107553223-A-G c.5907T>C p.D1969= Synonymous 44/50 - 1
9-107553227-C-T c.5903G>A p.G1968E Missense 44/50 - 1
9-107553232-G-A c.5898C>T p.T1966= Synonymous 44/50 - 1
9-107553232-G-C c.5898C>G p.T1966= Synonymous 44/50 - 1
9-107553233-G-T c.5897C>A p.T1966N Missense 44/50 - 1
9-107553235-A-T c.5895T>A p.V1965= Synonymous 44/50 - 1
9-107553244-A-G c.5886T>C p.D1962= Synonymous 44/50 - 1
9-107553250-T-C c.5880A>G p.T1960= Synonymous 44/50 - 1
9-107553252-T-C c.5878A>G p.T1960A Missense 44/50 - 1
9-107553253-T-C c.5877A>G p.L1959= Synonymous 44/50 - 1
9-107553259-C-T c.5871G>A p.K1957= Synonymous 44/50 - 1
9-107553260-T-G c.5870A>C p.K1957T Missense 44/50 - 1
9-107553261-T-G c.5869A>C p.K1957Q Missense 44/50 - 1
9-107553262-G-A c.5868C>T p.F1956= Synonymous 44/50 - 1
9-107553264-A-G c.5866T>C p.F1956L Missense 44/50 - 1
9-107553262-G-T c.5868C>A p.F1956L Missense 44/50 - 1
9-107553262-G-C c.5868C>G p.F1956L Missense 44/50 - 1
9-107553265-A-G c.5865T>C p.T1955= Synonymous 44/50 - 1
9-107553269-G-C c.5861C>G p.S1954* Nonsense 44/50 - 1
9-107553274-TT-CA c.5855_5856delinsTG p.K1952M Missense 44/50 - 3
9-107553275-T-A c.5855A>T p.K1952I Missense 44/50 - 1
9-107553278-C-T c.5852G>A p.G1951E Missense 44/50 - 1
9-107553281-G-C c.5849C>G p.A1950G Missense 44/50 - 1
9-107553281-G-A c.5849C>T p.A1950V Missense 44/50 - 1
9-107553283-C-T c.5847G>A p.G1949= Synonymous 44/50 - 1
9-107553287-T-A c.5843A>T p.N1948I Missense 44/50 - 1
9-107553287-T-C c.5843A>G p.N1948S Missense 44/50 - 1
9-107553300-G-A c.5830C>T p.L1944F Missense 44/50 - 1
9-107553307-G-A c.5823C>T p.C1941= Synonymous 44/50 - 1
9-107554069-C-T c.5820+148G>A - IntronicSNV - 43/49 1
9-107554217-C-G c.5820G>C p.E1940D Missense 43/50 - 1
9-107554217-C-A c.5820G>T p.E1940D Missense 43/50 - 1
9-107554219-C-G c.5818G>C p.E1940Q Missense 43/50 - 1
9-107554219-C-T c.5818G>A p.E1940K Missense 43/50 - 1
9-107554221-C-T c.5816G>A p.G1939D Missense 43/50 - 1
9-107554222-C-T c.5815G>A p.G1939S Missense 43/50 - 1
9-107554224-G-A c.5813C>T p.P1938L Missense 43/50 - 1
9-107554226-A-G c.5811T>C p.P1937= Synonymous 43/50 - 1
9-107554227-G-A c.5810C>T p.P1937L Missense 43/50 - 1
9-107554228-G-A c.5809C>T p.P1937S Missense 43/50 - 1
9-107554231-T-C c.5806A>G p.I1936V Missense 43/50 - 1
9-107554237-C-T c.5800G>A p.V1934M Missense 43/50 - 1
9-107554238-G-A c.5799C>T p.C1933= Synonymous 43/50 - 1
9-107554245-C-T c.5792G>A p.R1931K Missense 43/50 - 1
9-107554253-A-G c.5784T>C p.A1928= Synonymous 43/50 - 1
9-107554263-C-T c.5774G>A p.R1925Q Missense 43/50 - 3
9-107554263-C-A c.5774G>T p.R1925L Missense 43/50 - 1
9-107554264-G-A c.5773C>T p.R1925W Missense 43/50 - 1
9-107554264-G-C c.5773C>G p.R1925G Missense 43/50 - 1
9-107554265-C-G c.5772G>C p.K1924N Missense 43/50 - 1
9-107554265-C-A c.5772G>T p.K1924N Missense 43/50 - 1
9-107554270-T-C c.5767A>G p.R1923G Missense 43/50 - 1
9-107554272-C-G c.5765G>C p.R1922T Missense 43/50 - 1
9-107554274-A-G c.5763T>C p.Y1921= Synonymous 43/50 - 1
9-107554275-T-C c.5762A>G p.Y1921C Missense 43/50 - 1
9-107554276-A-G c.5761T>C p.Y1921H Missense 43/50 - 1
9-107555070-C-T c.5754G>A p.T1918= Synonymous 42/50 - 1
9-107555071-G-A c.5753C>T p.T1918M Missense 42/50 - 1
9-107555077-T-G c.5747A>C p.E1916A Missense 42/50 - 1
9-107555091-G-A c.5733C>T p.I1911= Synonymous 42/50 - 1
9-107555091-G-C c.5733C>G p.I1911M Missense 42/50 - 1
9-107555092-A-G c.5732T>C p.I1911T Missense 42/50 - 1
9-107555093-T-G c.5731A>C p.I1911L Missense 42/50 - 1
9-107555095-T-A c.5729A>T p.D1910V Missense 42/50 - 1
9-107555100-C-A c.5724G>T p.Q1908H Missense 42/50 - 1
9-107555100-C-G c.5724G>C p.Q1908H Missense 42/50 - 1
9-107555107-C-T c.5717G>A p.G1906E Missense 42/50 - 1
9-107555110-C-T c.5714G>A p.G1905D Missense 42/50 - 2
9-107555120-T-C c.5704A>G p.I1902V Missense 42/50 - 1
9-107555122-C-A c.5702G>T p.R1901I Missense 42/50 - 1
9-107555130-T-C c.5694A>G p.E1898= Synonymous 42/50 - 1
9-107555134-C-T c.5690G>A p.R1897Q Missense 42/50 - 1
9-107555135-G-A c.5689C>T p.R1897W Missense 42/50 - 1
9-107555135-G-T c.5689C>A p.R1897= Synonymous 42/50 - 1
9-107555133-C-T c.5691G>A p.R1897= Synonymous 42/50 - 2
9-107555133-C-G c.5691G>C p.R1897= Synonymous 42/50 - 1
9-107555133-C-A c.5691G>T p.R1897= Synonymous 42/50 - 1
9-107555139-C-A c.5685G>T p.V1895= Synonymous 42/50 - 1
9-107555139-C-T c.5685G>A p.V1895= Synonymous 42/50 - 1
9-107555142-A-G c.5682T>C p.D1894= Synonymous 42/50 - 1
9-107555143-T-C c.5681A>G p.D1894G Missense 42/50 - 1
9-107555143-T-G c.5681A>C p.D1894A Missense 42/50 - 1
9-107555150-C-G c.5674G>C p.D1892H Missense 42/50 - 1
9-107555150-C-T c.5674G>A p.D1892N Missense 42/50 - 1
9-107555155-T-G c.5669A>C p.D1890A Missense 42/50 - 1
9-107555161-A-G c.5663T>C p.L1888P Missense 42/50 - 1
9-107555164-G-A c.5660C>T p.P1887L Missense 42/50 - 1
9-107555166-AG-TT c.5657_5658delinsAA p.S1886* Nonsense 42/50 - 1
9-107555167-G-A c.5657C>T p.S1886F Missense 42/50 - 1
9-107555169-T-C c.5655A>G p.L1885= Synonymous 42/50 - 1
9-107555171-G-A c.5653C>T p.L1885= Synonymous 42/50 - 1
9-107555175-T-C c.5649A>G p.A1883= Synonymous 42/50 - 1
9-107555187-T-A c.5637A>T p.R1879S Missense 42/50 - 1
9-107555452-C-G c.5636G>C p.R1879T Missense 41/50 - 1
9-107555456-G-T c.5632C>A p.P1878T Missense 41/50 - 1
9-107555459-T-A c.5629A>T p.R1877W Missense 41/50 - 1
9-107555460-G-A c.5628C>T p.I1876= Synonymous 41/50 - 1
9-107555462-T-C c.5626A>G p.I1876V Missense 41/50 - 1
9-107555463-G-C c.5625C>G p.F1875L Missense 41/50 - 1
9-107555463-G-T c.5625C>A p.F1875L Missense 41/50 - 1
9-107555467-A-C c.5621T>G p.F1874C Missense 41/50 - 1
9-107555470-C-T c.5618G>A p.R1873K Missense 41/50 - 1
9-107555478-G-A c.5610C>T p.I1870= Synonymous 41/50 - 2
9-107555478-G-T c.5610C>A p.I1870= Synonymous 41/50 - 1
9-107555482-A-C c.5606T>G p.L1869R Missense 41/50 - 1
9-107555483-G-GC c.5604_5605insG p.L1869Afs*22 Frameshift 41/50 - 1
9-107555483-G-A c.5605C>T p.L1869= Synonymous 41/50 - 1
9-107555490-A-G c.5598T>C p.I1866= Synonymous 41/50 - 1
9-107555495-G-A c.5593C>T p.L1865F Missense 41/50 - 1
9-107555499-G-A c.5589C>T p.F1863= Synonymous 41/50 - 2
9-107555501-A-G c.5587T>C p.F1863L Missense 41/50 - 1
9-107555499-G-T c.5589C>A p.F1863L Missense 41/50 - 1
9-107555499-G-C c.5589C>G p.F1863L Missense 41/50 - 1
9-107555502-C-T c.5586G>A p.V1862= Synonymous 41/50 - 1
9-107555508-C-T c.5580G>A p.G1860= Synonymous 41/50 - 1
9-107555510-CT-C c.5577del p.V1861Wfs*9 Frameshift 41/50 - 1
9-107555516-C-A c.5572G>T p.V1858L Missense 41/50 - 1
9-107555516-C-T c.5572G>A p.V1858M Missense 41/50 - 1
9-107555517-G-A c.5571C>T p.A1857= Synonymous 41/50 - 1
9-107555517-G-T c.5571C>A p.A1857= Synonymous 41/50 - 1
9-107555517-G-C c.5571C>G p.A1857= Synonymous 41/50 - 1
9-107555519-C-T c.5569G>A p.A1857T Missense 41/50 - 1
9-107555525-C-T c.5563G>A p.A1855T Missense 41/50 - 1
9-107555526-G-A c.5562C>T p.F1854= Synonymous 41/50 - 1
9-107555532-G-A c.5556C>T p.N1852= Synonymous 41/50 - 1
9-107555536-C-T c.5552G>A p.R1851Q Missense 41/50 - 3
9-107555537-G-A c.5551C>T p.R1851* Nonsense 41/50 - 3
9-107555540-C-T c.5548G>A p.G1850R Missense 41/50 - 1
9-107555540-C-G c.5548G>C p.G1850R Missense 41/50 - 1
9-107555541-C-T c.5547G>A p.V1849= Synonymous 41/50 - 1
9-107555556-T-C c.5532A>G p.L1844= Synonymous 41/50 - 1
9-107555570-A-G c.5518T>C p.F1840L Missense 41/50 - 1
9-107555572-C-A c.5516G>T p.R1839L Missense 41/50 - 1
9-107555572-C-T c.5516G>A p.R1839H Missense 41/50 - 1
9-107555573-G-A c.5515C>T p.R1839C Missense 41/50 - 1
9-107555577-C-T c.5511G>A p.E1837= Synonymous 41/50 - 1
9-107555711-C-A c.5507-130G>T - IntronicSNV - 40/49 2
9-107555711-C-G c.5507-130G>C - IntronicSNV - 40/49 2
9-107555711-C-T c.5507-130G>A - IntronicSNV - 40/49 2
9-107556671-A-C c.5503T>G p.F1835V Missense 40/50 - 1
9-107556672-C-A c.5502G>T p.R1834S Missense 40/50 - 1
9-107556676-T-G c.5498A>C p.E1833A Missense 40/50 - 1
9-107556681-G-A c.5493C>T p.A1831= Synonymous 40/50 - 1
9-107556681-G-C c.5493C>G p.A1831= Synonymous 40/50 - 1
9-107556682-G-A c.5492C>T p.A1831V Missense 40/50 - 1
9-107556683-C-T c.5491G>A p.A1831T Missense 40/50 - 1
9-107556688-G-T c.5486C>A p.A1829D Missense 40/50 - 1
9-107556694-G-C c.5480C>G p.A1827G Missense 40/50 - 1
9-107556697-T-A c.5477A>T p.Q1826L Missense 40/50 - 1
9-107556707-C-T c.5467G>A p.V1823M Missense 40/50 - 1
9-107556710-T-A c.5464A>T p.M1822L Missense 40/50 - 1
9-107556710-T-C c.5464A>G p.M1822V Missense 40/50 - 1
9-107556713-C-T c.5461G>A p.D1821N Missense 40/50 - 1
9-107556714-G-A c.5460C>T p.I1820= Synonymous 40/50 - 1
9-107556714-G-T c.5460C>A p.I1820= Synonymous 40/50 - 1
9-107556716-T-G c.5458A>C p.I1820L Missense 40/50 - 1
9-107556717-G-A c.5457C>T p.L1819= Synonymous 40/50 - 1
9-107556720-C-T c.5454G>A p.G1818= Synonymous 40/50 - 1
9-107556725-G-A c.5449C>T p.R1817* Nonsense 40/50 - 3
9-107556734-A-T c.5440T>A p.C1814S Missense 40/50 - 1
9-107556733-C-G c.5441G>C p.C1814S Missense 40/50 - 1
9-107556758-C-T c.5416G>A p.V1806M Missense 40/50 - 1
9-107556759-G-A c.5415C>T p.S1805= Synonymous 40/50 - 1
9-107556765-C-T c.5409G>A p.L1803= Synonymous 40/50 - 1
9-107556765-C-A c.5409G>T p.L1803= Synonymous 40/50 - 1
9-107556765-C-G c.5409G>C p.L1803= Synonymous 40/50 - 1
9-107556767-G-A c.5407C>T p.L1803= Synonymous 40/50 - 1
9-107556768-G-A c.5406C>T p.I1802= Synonymous 40/50 - 1
9-107556768-G-T c.5406C>A p.I1802= Synonymous 40/50 - 1
9-107556775-T-C c.5399A>G p.N1800S Missense 40/50 - 1
9-107556776-T-G c.5398A>C p.N1800H Missense 40/50 - 27
9-107556777-G-A c.5397C>T p.I1799= Synonymous 40/50 - 1
9-107556779-T-C c.5395A>G p.I1799V Missense 40/50 - 2
9-107556779-T-G c.5395A>C p.I1799L Missense 40/50 - 1
9-107556784-T-C c.5390A>G p.N1797S Missense 40/50 - 1
9-107556786-C-A c.5388G>T p.L1796= Synonymous 40/50 - 1
9-107556786-C-G c.5388G>C p.L1796= Synonymous 40/50 - 1
9-107556788-G-A c.5386C>T p.L1796= Synonymous 40/50 - 1
9-107556788-G-C c.5386C>G p.L1796V Missense 40/50 - 1
9-107556790-T-C c.5384A>G p.K1795R Missense 40/50 - 1
9-107556793-T-A c.5383-2A>T - IntronicSNV - 39/49 1
9-107558339-C-T c.5377G>A p.D1793N Missense 39/50 - 1
9-107558340-G-A c.5376C>T p.T1792= Synonymous 39/50 - 2
9-107558343-G-A c.5373C>T p.F1791= Synonymous 39/50 - 1
9-107558351-C-G c.5365G>C p.E1789Q Missense 39/50 - 1
9-107558354-G-A c.5362C>T p.L1788= Synonymous 39/50 - 1
9-107558368-A-G c.5348T>C p.V1783A Missense 39/50 - 1
9-107558369-C-A c.5347G>T p.V1783L Missense 39/50 - 1
9-107558369-C-T c.5347G>A p.V1783M Missense 39/50 - 1
9-107558370-G-A c.5346C>T p.S1782= Synonymous 39/50 - 1
9-107558370-G-C c.5346C>G p.S1782R Missense 39/50 - 1
9-107558370-G-T c.5346C>A p.S1782R Missense 39/50 - 1
9-107558372-T-G c.5344A>C p.S1782R Missense 39/50 - 1
9-107558373-G-A c.5343C>T p.G1781= Synonymous 39/50 - 1
9-107558374-C-T c.5342G>A p.G1781D Missense 39/50 - 1
9-107558386-A-T c.5330T>A p.I1777N Missense 39/50 - 1
9-107558387-T-C c.5329A>G p.I1777V Missense 39/50 - 1
9-107558391-G-A c.5325C>T p.L1775= Synonymous 39/50 - 1
9-107558396-T-C c.5320A>G p.N1774D Missense 39/50 - 1
9-107558399-C-T c.5317G>A p.V1773M Missense 39/50 - 1
9-107558400-G-A c.5316C>T p.S1772= Synonymous 39/50 - 1
9-107558403-G-A c.5313C>T p.T1771= Synonymous 39/50 - 1
9-107558409-C-A c.5307G>T p.V1769= Synonymous 39/50 - 1
9-107558409-C-T c.5307G>A p.V1769= Synonymous 39/50 - 1
9-107558415-A-G c.5301T>C p.Y1767= Synonymous 39/50 - 1
9-107558416-T-C c.5300A>G p.Y1767C Missense 39/50 - 1
9-107558417-A-C c.5299T>G p.Y1767D Missense 39/50 - 2
9-107558418-G-C c.5298C>G p.A1766= Synonymous 39/50 - 1
9-107558430-G-A c.5286C>T p.I1762= Synonymous 39/50 - 1
9-107558430-G-T c.5286C>A p.I1762= Synonymous 39/50 - 1
9-107558432-T-C c.5284A>G p.I1762V Missense 39/50 - 1
9-107558433-C-G c.5283G>C p.K1761N Missense 39/50 - 1
9-107558433-C-A c.5283G>T p.K1761N Missense 39/50 - 1
9-107558434-T-G c.5282A>C p.K1761T Missense 39/50 - 1
9-107558439-C-T c.5277G>A p.V1759= Synonymous 39/50 - 1
9-107558439-C-G c.5277G>C p.V1759= Synonymous 39/50 - 1
9-107558439-C-A c.5277G>T p.V1759= Synonymous 39/50 - 1
9-107558438-A-AC c.5277dup p.F1760Vfs*21 Frameshift 39/50 - 1
9-107558440-A-G c.5276T>C p.V1759A Missense 39/50 - 1
9-107558447-A-C c.5269T>G p.S1757A Missense 39/50 - 1
9-107558448-G-T c.5268C>A p.A1756= Synonymous 39/50 - 1
9-107558450-C-T c.5266G>A p.A1756T Missense 39/50 - 1
9-107558453-G-C c.5263C>G p.P1755A Missense 39/50 - 1
9-107558454-G-A c.5262C>T p.Y1754= Synonymous 39/50 - 1
9-107558469-G-A c.5247C>T p.I1749= Synonymous 39/50 - 1
9-107558471-T-C c.5245A>G p.I1749V Missense 39/50 - 1
9-107558476-C-T c.5240G>A p.W1747* Nonsense 39/50 - 1
9-107558475-C-T c.5241G>A p.W1747* Nonsense 39/50 - 1
9-107558476-C-A c.5240G>T p.W1747L Missense 39/50 - 1
9-107558478-C-A c.5238G>T p.G1746= Synonymous 39/50 - 1
9-107558478-C-T c.5238G>A p.G1746= Synonymous 39/50 - 1
9-107558478-C-G c.5238G>C p.G1746= Synonymous 39/50 - 1
9-107558592-A-G c.5235T>C p.Y1745= Synonymous 38/50 - 1
9-107558595-C-G c.5232G>C p.L1744= Synonymous 38/50 - 1
9-107558597-G-A c.5230C>T p.L1744= Synonymous 38/50 - 1
9-107558600-A-C c.5227T>G p.L1743V Missense 38/50 - 1
9-107558604-T-G c.5223A>C p.L1741= Synonymous 38/50 - 1
9-107558624-G-C c.5203C>G p.L1735V Missense 38/50 - 1
9-107558627-T-G c.5200A>C p.N1734H Missense 38/50 - 1
9-107558633-A-T c.5194T>A p.S1732T Missense 38/50 - 1
9-107558635-G-C c.5192C>G p.S1731C Missense 38/50 - 4
9-107558648-T-C c.5179A>G p.K1727E Missense 38/50 - 1
9-107558673-A-G c.5154T>C p.I1718= Synonymous 38/50 - 2
9-107558673-A-T c.5154T>A p.I1718= Synonymous 38/50 - 1
9-107558674-A-C c.5153T>G p.I1718S Missense 38/50 - 1
9-107558678-C-T c.5149G>A p.V1717I Missense 38/50 - 1
9-107558679-C-T c.5148G>A p.L1716= Synonymous 38/50 - 1
9-107558687-C-T c.5140G>A p.A1714T Missense 38/50 - 1
9-107558691-G-A c.5136C>T p.V1712= Synonymous 38/50 - 1
9-107558695-A-C c.5132T>G p.V1711G Missense 38/50 - 1
9-107558696-C-T c.5131G>A p.V1711I Missense 38/50 - 2
9-107558697-G-A c.5130C>T p.Y1710= Synonymous 38/50 - 1
9-107558701-T-C c.5126A>G p.N1709S Missense 38/50 - 1
9-107559059-G-A c.5122-354C>T - IntronicSNV - 37/49 1
9-107559479-T-A c.5122-774A>T - IntronicSNV - 37/49 1
9-107559479-T-C c.5122-774A>G - IntronicSNV - 37/49 1
9-107560704-T-C c.5119A>G p.M1707V Missense 37/50 - 1
9-107560706-T-C c.5117A>G p.D1706G Missense 37/50 - 1
9-107560712-A-C c.5111T>G p.V1704G Missense 37/50 - 1
9-107560713-C-A c.5110G>T p.V1704F Missense 37/50 - 1
9-107560714-A-G c.5109T>C p.F1703= Synonymous 37/50 - 1
9-107560719-T-C c.5104A>G p.N1702D Missense 37/50 - 1
9-107560721-G-C c.5102C>G p.S1701C Missense 37/50 - 1
9-107560723-G-A c.5100C>T p.L1700= Synonymous 37/50 - 1
9-107560723-G-C c.5100C>G p.L1700= Synonymous 37/50 - 1
9-107560723-G-T c.5100C>A p.L1700= Synonymous 37/50 - 1
9-107560726-C-A c.5097G>T p.W1699C Missense 37/50 - 4
9-107560729-G-A c.5094C>T p.Y1698= Synonymous 37/50 - 1
9-107560729-G-T c.5094C>A p.Y1698* Nonsense 37/50 - 1
9-107560731-A-G c.5092T>C p.Y1698H Missense 37/50 - 1
9-107560734-T-C c.5089A>G p.I1697V Missense 37/50 - 2
9-107560735-G-A c.5088C>T p.V1696= Synonymous 37/50 - 1
9-107560738-A-C c.5085T>G p.P1695= Synonymous 37/50 - 1
9-107560738-A-T c.5085T>A p.P1695= Synonymous 37/50 - 1
9-107560738-A-G c.5085T>C p.P1695= Synonymous 37/50 - 1
9-107560739-G-A c.5084C>T p.P1695L Missense 37/50 - 1
9-107560740-G-A c.5083C>T p.P1695S Missense 37/50 - 1
9-107560740-G-C c.5083C>G p.P1695A Missense 37/50 - 1
9-107560741-C-T c.5082G>A p.K1694= Synonymous 37/50 - 1
9-107560744-C-T c.5079G>A p.V1693= Synonymous 37/50 - 1
9-107560755-T-C c.5068A>G p.I1690V Missense 37/50 - 1
9-107560759-C-A c.5064G>T p.Q1688H Missense 37/50 - 1
9-107560759-C-G c.5064G>C p.Q1688H Missense 37/50 - 1
9-107560762-C-T c.5061G>A p.L1687= Synonymous 37/50 - 1
9-107560764-G-T c.5059C>A p.L1687M Missense 37/50 - 1
9-107560766-T-A c.5057A>T p.H1686L Missense 37/50 - 1
9-107560772-G-C c.5051C>G p.A1684G Missense 37/50 - 1
9-107560776-T-C c.5047A>G p.K1683E Missense 37/50 - 1
9-107560777-G-T c.5046C>A p.S1682R Missense 37/50 - 1
9-107560784-C-T c.5039G>A p.R1680Q Missense 37/50 - 5
9-107560784-C-A c.5039G>T p.R1680L Missense 37/50 - 1
9-107560785-G-A c.5038C>T p.R1680W Missense 37/50 - 2
9-107560785-G-T c.5038C>A p.R1680= Synonymous 37/50 - 1
9-107560789-C-T c.5034G>A p.Q1678= Synonymous 37/50 - 1
9-107560803-C-T c.5020G>A p.V1674I Missense 37/50 - 1
9-107560804-G-A c.5019C>T p.V1673= Synonymous 37/50 - 1
9-107560804-G-C c.5019C>G p.V1673= Synonymous 37/50 - 1
9-107560804-G-T c.5019C>A p.V1673= Synonymous 37/50 - 1
9-107560819-G-A c.5004C>T p.V1668= Synonymous 37/50 - 1
9-107560821-C-T c.5002G>A p.V1668I Missense 37/50 - 4
9-107560822-G-A c.5001C>T p.F1667= Synonymous 37/50 - 2
9-107560828-C-CA c.4994dup p.M1665Ifs*38 Frameshift 37/50 - 1
9-107560830-T-C c.4993A>G p.M1665V Missense 37/50 - 1
9-107560830-T-G c.4993A>C p.M1665L Missense 37/50 - 1
9-107560830-T-A c.4993A>T p.M1665L Missense 37/50 - 1
9-107560832-G-A c.4991C>T p.A1664V Missense 37/50 - 1
9-107560837-G-T c.4986C>A p.I1662= Synonymous 37/50 - 1
9-107560837-G-A c.4986C>T p.I1662= Synonymous 37/50 - 1
9-107560838-A-G c.4985T>C p.I1662T Missense 37/50 - 1
9-107560841-A-G c.4982T>C p.V1661A Missense 37/50 - 1
9-107560842-C-T c.4981G>A p.V1661I Missense 37/50 - 1
9-107560847-A-C c.4976T>G p.I1659S Missense 37/50 - 1
9-107560861-ATCCAC-A c.4957_4961del p.V1653Cfs*48 Frameshift 37/50 - 1
9-107560864-C-T c.4959G>A p.V1653= Synonymous 37/50 - 1
9-107560864-C-G c.4959G>C p.V1653= Synonymous 37/50 - 1
9-107560864-C-A c.4959G>T p.V1653= Synonymous 37/50 - 1
9-107560865-A-G c.4958T>C p.V1653A Missense 37/50 - 1
9-107560866-C-T c.4957G>A p.V1653M Missense 37/50 - 1
9-107560878-T-C c.4945A>G p.M1649V Missense 37/50 - 1
9-107562098-A-G c.4943+2T>C - IntronicSNV - 36/49 1
9-107562100-A-G c.4943T>C p.L1648P Missense 36/50 - 1
9-107562104-C-G c.4939G>C p.A1647P Missense 36/50 - 1
9-107562104-C-T c.4939G>A p.A1647T Missense 36/50 - 1
9-107562106-A-T c.4937T>A p.V1646E Missense 36/50 - 1
9-107562108-C-A c.4935G>T p.E1645D Missense 36/50 - 1
9-107562108-C-T c.4935G>A p.E1645= Synonymous 36/50 - 1
9-107562112-G-A c.4931C>T p.S1644L Missense 36/50 - 1
9-107562114-G-A c.4929C>T p.L1643= Synonymous 36/50 - 1
9-107562114-G-C c.4929C>G p.L1643= Synonymous 36/50 - 1
9-107562114-G-T c.4929C>A p.L1643= Synonymous 36/50 - 1
9-107562120-C-T c.4923G>A p.Q1641= Synonymous 36/50 - 1
9-107562123-C-T c.4920G>A p.K1640= Synonymous 36/50 - 1
9-107562134-T-C c.4909A>G p.N1637D Missense 36/50 - 1
9-107562135-C-T c.4908G>A p.L1636= Synonymous 36/50 - 1
9-107562145-T-A c.4898A>T p.N1633I Missense 36/50 - 1
9-107562145-T-C c.4898A>G p.N1633S Missense 36/50 - 1
9-107562149-A-G c.4894T>C p.F1632L Missense 36/50 - 1
9-107562147-G-T c.4896C>A p.F1632L Missense 36/50 - 1
9-107562147-G-C c.4896C>G p.F1632L Missense 36/50 - 1
9-107562151-G-A c.4892C>T p.A1631V Missense 36/50 - 1
9-107562160-C-G c.4883G>C p.G1628A Missense 36/50 - 1
9-107562164-A-G c.4879T>C p.Y1627H Missense 36/50 - 1
9-107562172-G-A c.4871C>T p.P1624L Missense 36/50 - 1
9-107562172-G-T c.4871C>A p.P1624H Missense 36/50 - 1
9-107562174-G-C c.4869C>G p.N1623K Missense 36/50 - 1
9-107562177-C-G c.4866G>C p.E1622D Missense 36/50 - 1
9-107562177-C-A c.4866G>T p.E1622D Missense 36/50 - 1
9-107562181-C-T c.4862G>A p.G1621E Missense 36/50 - 1
9-107562182-C-T c.4861G>A p.G1621R Missense 36/50 - 1
9-107562185-T-C c.4858A>G p.K1620E Missense 36/50 - 1
9-107562196-G-A c.4847C>T p.A1616V Missense 36/50 - 1
9-107562199-C-T c.4844G>A p.R1615Q Missense 36/50 - 2
9-107562199-C-G c.4844G>C p.R1615P Missense 36/50 - 1
9-107562200-G-A c.4843C>T p.R1615W Missense 36/50 - 1
9-107562201-G-A c.4842C>T p.L1614= Synonymous 36/50 - 1
9-107562201-G-C c.4842C>G p.L1614= Synonymous 36/50 - 1
9-107562201-G-T c.4842C>A p.L1614= Synonymous 36/50 - 1
9-107562204-A-G c.4839T>C p.I1613= Synonymous 36/50 - 1
9-107562206-T-C c.4837A>G p.I1613V Missense 36/50 - 1
9-107562208-G-A c.4835C>T p.A1612V Missense 36/50 - 1
9-107562218-T-C c.4825A>G p.I1609V Missense 36/50 - 1
9-107562230-A-C c.4813T>G p.F1605V Missense 36/50 - 1
9-107562231-A-G c.4812T>C p.S1604= Synonymous 36/50 - 1
9-107562232-G-A c.4811C>T p.S1604F Missense 36/50 - 1
9-107562234-G-A c.4809C>T p.S1603= Synonymous 36/50 - 1
9-107562236-T-C c.4807A>G p.S1603G Missense 36/50 - 1
9-107562237-G-T c.4806C>A p.I1602= Synonymous 36/50 - 1
9-107562237-G-A c.4806C>T p.I1602= Synonymous 36/50 - 1
9-107562239-T-C c.4804A>G p.I1602V Missense 36/50 - 1
9-107562240-T-C c.4803A>G p.A1601= Synonymous 36/50 - 1
9-107562241-G-A c.4802C>T p.A1601V Missense 36/50 - 1
9-107562242-C-T c.4801G>A p.A1601T Missense 36/50 - 1
9-107562244-T-C c.4799A>G p.H1600R Missense 36/50 - 1
9-107562247-C-T c.4796G>A p.W1599* Nonsense 36/50 - 1
9-107562246-C-T c.4797G>A p.W1599* Nonsense 36/50 - 1
9-107562255-G-A c.4788C>T p.N1596= Synonymous 36/50 - 1
9-107562259-T-C c.4784A>G p.N1595S Missense 36/50 - 1
9-107562264-C-A c.4779G>T p.W1593C Missense 36/50 - 1
9-107562264-C-G c.4779G>C p.W1593C Missense 36/50 - 1
9-107562269-C-A c.4774G>T p.V1592L Missense 36/50 - 1
9-107562269-C-T c.4774G>A p.V1592M Missense 36/50 - 1
9-107562796-C-T c.4768G>A p.V1590I Missense 35/50 - 1
9-107562800-A-G c.4764T>C p.N1588= Synonymous 35/50 - 1
9-107562803-T-C c.4761A>G p.K1587= Synonymous 35/50 - 1
9-107562804-T-C c.4760A>G p.K1587R Missense 35/50 - 43
9-107562805-T-G c.4759A>C p.K1587Q Missense 35/50 - 1
9-107562806-G-C c.4758C>G p.T1586= Synonymous 35/50 - 1
9-107562807-G-C c.4757C>G p.T1586S Missense 35/50 - 1
9-107562808-T-A c.4756A>T p.T1586S Missense 35/50 - 1
9-107562811-C-A c.4753G>T p.D1585Y Missense 35/50 - 1
9-107562812-C-A c.4752G>T p.L1584= Synonymous 35/50 - 1
9-107562812-C-T c.4752G>A p.L1584= Synonymous 35/50 - 1
9-107562812-C-G c.4752G>C p.L1584= Synonymous 35/50 - 1
9-107562814-G-A c.4750C>T p.L1584= Synonymous 35/50 - 1
9-107562823-T-C c.4741A>G p.M1581V Missense 35/50 - 1
9-107562825-A-G c.4739T>C p.F1580S Missense 35/50 - 1
9-107562831-C-T c.4733G>A p.G1578E Missense 35/50 - 1
9-107562839-G-T c.4725C>A p.N1575K Missense 35/50 - 1
9-107562840-T-C c.4724A>G p.N1575S Missense 35/50 - 1
9-107562841-T-A c.4723A>T p.N1575Y Missense 35/50 - 1
9-107562846-A-G c.4718T>C p.F1573S Missense 35/50 - 1
9-107562849-C-A c.4715G>T p.R1572L Missense 35/50 - 1
9-107562849-C-T c.4715G>A p.R1572Q Missense 35/50 - 1
9-107562850-G-A c.4714C>T p.R1572* Nonsense 35/50 - 2
9-107562850-G-C c.4714C>G p.R1572G Missense 35/50 - 1
9-107562854-T-C c.4710A>G p.A1570= Synonymous 35/50 - 1
9-107562856-C-T c.4708G>A p.A1570T Missense 35/50 - 1
9-107563437-G-A c.4699-572C>T - IntronicSNV - 34/49 1
9-107563437-G-T c.4699-572C>A - IntronicSNV - 34/49 1
9-107563603-T-C c.4698+732A>G - IntronicSNV - 34/49 1
9-107564077-G-A c.4698+258C>T - IntronicSNV - 34/49 1
9-107564077-G-T c.4698+258C>A - IntronicSNV - 34/49 1
9-107564335-C-G c.4698G>C p.K1566N Missense 34/50 - 1
9-107564335-C-T c.4698G>A p.K1566= Synonymous 34/50 - 1
9-107564337-T-C c.4696A>G p.K1566E Missense 34/50 - 1
9-107564337-TTGGCCAGCTTTAGGTGTTTCTTCATTTGTTTGATGGCATCATTAACTTCTTGACTCGGA-T c.4638_4696del p.P1547Gfs*23 InFrameDeletion 34/50 - 1
9-107564342-A-G c.4691T>C p.L1564P Missense 34/50 - 1
9-107564343-G-T c.4690C>A p.L1564M Missense 34/50 - 1
9-107564349-G-T c.4684C>A p.L1562I Missense 34/50 - 1
9-107564353-T-C c.4680A>G p.K1560= Synonymous 34/50 - 1
9-107564358-T-G c.4675A>C p.K1559Q Missense 34/50 - 1
9-107564358-T-C c.4675A>G p.K1559E Missense 34/50 - 1
9-107564362-T-C c.4671A>G p.Q1557= Synonymous 34/50 - 1
9-107564369-A-G c.4664T>C p.I1555T Missense 34/50 - 1
9-107564372-G-C c.4661C>G p.A1554G Missense 34/50 - 1
9-107564374-A-G c.4659T>C p.D1553= Synonymous 34/50 - 1
9-107564374-A-T c.4659T>A p.D1553E Missense 34/50 - 1
9-107564376-C-G c.4657G>C p.D1553H Missense 34/50 - 1
9-107564382-C-T c.4651G>A p.V1551I Missense 34/50 - 1
9-107564392-C-T c.4641G>A p.P1547= Synonymous 34/50 - 1
9-107564393-G-A c.4640C>T p.P1547L Missense 34/50 - 1
9-107564394-G-A c.4639C>T p.P1547S Missense 34/50 - 2
9-107564394-G-C c.4639C>G p.P1547A Missense 34/50 - 1
9-107564396-G-A c.4637C>T p.P1546L Missense 34/50 - 1
9-107564397-G-A c.4636C>T p.P1546S Missense 34/50 - 2
9-107564397-G-T c.4636C>A p.P1546T Missense 34/50 - 1
9-107564406-G-A c.4627C>T p.Q1543* Nonsense 34/50 - 1
9-107564408-G-C c.4625C>G p.T1542S Missense 34/50 - 1
9-107564414-C-T c.4619G>A p.S1540N Missense 34/50 - 1
9-107564416-G-A c.4617C>T p.V1539= Synonymous 34/50 - 1
9-107564425-G-A c.4608C>T p.S1536= Synonymous 34/50 - 1
9-107564425-G-C c.4608C>G p.S1536= Synonymous 34/50 - 1
9-107564425-G-T c.4608C>A p.S1536= Synonymous 34/50 - 1
9-107564426-G-A c.4607C>T p.S1536F Missense 34/50 - 3
9-107564430-A-C c.4603T>G p.F1535V Missense 34/50 - 1
9-107564430-A-G c.4603T>C p.F1535L Missense 34/50 - 1
9-107564434-G-A c.4599C>T p.G1533= Synonymous 34/50 - 1
9-107564434-G-T c.4599C>A p.G1533= Synonymous 34/50 - 1
9-107564438-T-C c.4595A>G p.Y1532C Missense 34/50 - 3
9-107564439-A-G c.4594T>C p.Y1532H Missense 34/50 - 1
9-107564440-C-T c.4593G>A p.R1531= Synonymous 34/50 - 1
9-107565566-T-G c.4591A>C p.R1531= Synonymous 33/50 - 1
9-107564466-C-G c.4593-26G>C - IntronicSNV - 33/49 3
9-107565570-C-T c.4587G>A p.E1529= Synonymous 33/50 - 1
9-107565579-C-T c.4578G>A p.W1526* Nonsense 33/50 - 1
9-107565591-C-T c.4566G>A p.K1522= Synonymous 33/50 - 1
9-107565597-G-C c.4560C>G p.S1520R Missense 33/50 - 1
9-107566907-C-A c.4559G>T p.S1520I Missense 32/50 - 1
9-107566914-C-T c.4552G>A p.A1518T Missense 32/50 - 1
9-107566916-A-C c.4550T>G p.I1517R Missense 32/50 - 1
9-107566928-T-TA c.4537dup p.Y1513Lfs*17 Frameshift 32/50 - 1
9-107566930-C-A c.4536G>T p.T1512= Synonymous 32/50 - 1
9-107566930-C-T c.4536G>A p.T1512= Synonymous 32/50 - 1
9-107566931-G-A c.4535C>T p.T1512M Missense 32/50 - 4
9-107566939-C-T c.4527G>A p.L1509= Synonymous 32/50 - 1
9-107566941-G-C c.4525C>G p.L1509V Missense 32/50 - 1
9-107566941-G-T c.4525C>A p.L1509M Missense 32/50 - 1
9-107566942-A-G c.4524T>C p.Y1508= Synonymous 32/50 - 1
9-107566948-C-A c.4518G>T p.S1506= Synonymous 32/50 - 1
9-107566948-C-T c.4518G>A p.S1506= Synonymous 32/50 - 2
9-107566948-C-G c.4518G>C p.S1506= Synonymous 32/50 - 1
9-107566949-G-A c.4517C>T p.S1506L Missense 32/50 - 4
9-107566957-T-A c.4509A>T p.R1503S Missense 32/50 - 1
9-107566961-C-T c.4505G>A p.G1502E Missense 32/50 - 1
9-107566964-G-A c.4502C>T p.T1501I Missense 32/50 - 1
9-107566968-G-A c.4498C>T p.L1500= Synonymous 32/50 - 1
9-107566974-G-A c.4492C>T p.Q1498* Nonsense 32/50 - 1
9-107566978-G-A c.4488C>T p.I1496= Synonymous 32/50 - 1
9-107566979-A-G c.4487T>C p.I1496T Missense 32/50 - 1
9-107566984-T-C c.4482A>G p.A1494= Synonymous 32/50 - 1
9-107566986-C-A c.4480G>T p.A1494S Missense 32/50 - 1
9-107566993-T-C c.4473A>G p.Q1491= Synonymous 32/50 - 1
9-107566999-T-C c.4467A>G p.R1489= Synonymous 32/50 - 1
9-107567000-C-A c.4466G>T p.R1489I Missense 32/50 - 1
9-107567002-C-G c.4465-1G>C - IntronicSNV - 31/49 1
9-107567007-A-G c.4465-6T>C - IntronicSNV - 31/49 1
9-107567009-C-T c.4465-8G>A - IntronicSNV - 31/49 1
9-107567011-C-T c.4465-10G>A - IntronicSNV - 31/49 1
9-107567023-G-A c.4465-22C>T - IntronicSNV - 31/49 1
9-107567025-A-C c.4465-24T>G - IntronicSNV - 31/49 1
9-107567028-C-T c.4465-27G>A - IntronicSNV - 31/49 1
9-107567029-G-A c.4465-28C>T - IntronicSNV - 31/49 1
9-107567030-G-A c.4465-29C>T - IntronicSNV - 31/49 1
9-107567031-G-GTTTTCATTTCATT c.4465-31_4465-30insAATGAAATGAAAA - IntronicInsertion - 31/49 1
9-107567048-T-A c.4465-47A>T - IntronicSNV - 31/49 1
9-107567048-T-C c.4465-47A>G - IntronicSNV - 31/49 1
9-107568522-T-C c.4464A>G p.Q1488= Synonymous 31/50 - 1
9-107568521-CTTGTGGAGGAGGCAGCCCCCCTGCCCCTGGGGGACACACAGGCAGCATCTTCTTGATTT-C c.4406_4464del p.I1470Kfs*40 SpliceDonorDeletion 31/50 - 1
9-107568524-G-A c.4462C>T p.Q1488* Nonsense 31/50 - 1
9-107568525-T-C c.4461A>G p.P1487= Synonymous 31/50 - 1
9-107568529-G-A c.4457C>T p.P1486L Missense 31/50 - 1
9-107568536-AG-A c.4450del p.L1484Cfs*17 Frameshift 31/50 - 1
9-107568537-C-A c.4449G>T p.G1483= Synonymous 31/50 - 1
9-107568537-C-T c.4449G>A p.G1483= Synonymous 31/50 - 1
9-107568541-C-T c.4445G>A p.G1482E Missense 31/50 - 1
9-107568544-G-C c.4442C>G p.A1481G Missense 31/50 - 1
9-107568546-C-A c.4440G>T p.G1480= Synonymous 31/50 - 1
9-107568546-C-T c.4440G>A p.G1480= Synonymous 31/50 - 1
9-107568547-C-G c.4439G>C p.G1480A Missense 31/50 - 1
9-107568553-G-A c.4433C>T p.P1478L Missense 31/50 - 2
9-107568554-G-A c.4432C>T p.P1478S Missense 31/50 - 2
9-107568556-C-A c.4430G>T p.C1477F Missense 31/50 - 1
9-107568557-A-G c.4429T>C p.C1477R Missense 31/50 - 16
9-107568557-A-T c.4429T>A p.C1477S Missense 31/50 - 1
9-107568556-C-G c.4430G>C p.C1477S Missense 31/50 - 1
9-107568562-G-A c.4424C>T p.P1475L Missense 31/50 - 3
9-107568563-G-A c.4423C>T p.P1475S Missense 31/50 - 1
9-107568566-G-A c.4420C>T p.L1474= Synonymous 31/50 - 2
9-107568571-T-C c.4415A>G p.K1472R Missense 31/50 - 1
9-107568573-C-G c.4413G>C p.K1471N Missense 31/50 - 1
9-107568573-C-A c.4413G>T p.K1471N Missense 31/50 - 1
9-107568576-G-T c.4410C>A p.I1470= Synonymous 31/50 - 1
9-107568576-G-A c.4410C>T p.I1470= Synonymous 31/50 - 1
9-107568577-A-G c.4409T>C p.I1470T Missense 31/50 - 1
9-107568581-T-C c.4405A>G p.K1469E Missense 31/50 - 1
9-107568582-G-A c.4404C>T p.D1468= Synonymous 31/50 - 1
9-107568582-G-T c.4404C>A p.D1468E Missense 31/50 - 1
9-107568584-C-T c.4402G>A p.D1468N Missense 31/50 - 1
9-107568585-G-A c.4401C>T p.S1467= Synonymous 31/50 - 1
9-107568586-C-T c.4400G>A p.S1467N Missense 31/50 - 1
9-107568593-A-T c.4393T>A p.C1465S Missense 31/50 - 1
9-107568592-C-G c.4394G>C p.C1465S Missense 31/50 - 1
9-107568595-T-C c.4391A>G p.Q1464R Missense 31/50 - 1
9-107568598-C-T c.4388G>A p.C1463Y Missense 31/50 - 1
9-107568599-A-T c.4387T>A p.C1463S Missense 31/50 - 1
9-107568598-C-G c.4388G>C p.C1463S Missense 31/50 - 1
9-107568601-G-A c.4385C>T p.A1462V Missense 31/50 - 1
9-107568605-G-A c.4381C>T p.P1461S Missense 31/50 - 1
9-107568607-G-A c.4379C>T p.S1460L Missense 31/50 - 1
9-107568609-A-G c.4377T>C p.P1459= Synonymous 31/50 - 1
9-107568612-G-A c.4374C>T p.N1458= Synonymous 31/50 - 2
9-107568619-CA-C c.4367del p.M1456Sfs*45 Frameshift 31/50 - 1
9-107568620-T-C c.4366A>G p.M1456V Missense 31/50 - 1
9-107568625-C-T c.4361G>A p.W1454* Nonsense 31/50 - 1
9-107568624-C-T c.4362G>A p.W1454* Nonsense 31/50 - 1
9-107568627-G-C c.4359C>G p.N1453K Missense 31/50 - 1
9-107568627-G-T c.4359C>A p.N1453K Missense 31/50 - 1
9-107568634-T-A c.4352A>T p.N1451I Missense 31/50 - 1
9-107568638-G-A c.4348C>T p.Q1450* Nonsense 31/50 - 2
9-107568639-G-A c.4347C>T p.F1449= Synonymous 31/50 - 1
9-107568644-G-T c.4342C>A p.L1448I Missense 31/50 - 1
9-107568646-T-A c.4340A>T p.D1447V Missense 31/50 - 1
9-107568649-A-G c.4337T>C p.M1446T Missense 31/50 - 1
9-107568650-T-C c.4336A>G p.M1446V Missense 31/50 - 1
9-107568653-T-A c.4333A>T p.I1445F Missense 31/50 - 1
9-107568654-G-A c.4332C>T p.T1444= Synonymous 31/50 - 1
9-107568654-G-T c.4332C>A p.T1444= Synonymous 31/50 - 1
9-107568655-G-A c.4331C>T p.T1444I Missense 31/50 - 1
9-107568656-T-C c.4330A>G p.T1444A Missense 31/50 - 1
9-107568661-G-A c.4325C>T p.P1442L Missense 31/50 - 1
9-107568663-A-T c.4323T>A p.V1441= Synonymous 31/50 - 1
9-107568666-T-C c.4320A>G p.P1440= Synonymous 31/50 - 1
9-107568676-G-A c.4310C>T p.T1437I Missense 31/50 - 1
9-107568677-T-C c.4309A>G p.T1437A Missense 31/50 - 1
9-107568679-C-T c.4307G>A p.W1436* Nonsense 31/50 - 1
9-107568678-C-T c.4308G>A p.W1436* Nonsense 31/50 - 1
9-107568680-A-G c.4306T>C p.W1436R Missense 31/50 - 1
9-107568689-C-T c.4297G>A p.E1433K Missense 31/50 - 1
9-107568692-C-G c.4294G>C p.G1432R Missense 31/50 - 1
9-107568694-G-A c.4292C>T p.A1431V Missense 31/50 - 1
9-107568696-C-T c.4290G>A p.Q1430= Synonymous 31/50 - 1
9-107568698-G-A c.4288C>T p.Q1430* Nonsense 31/50 - 1
9-107568699-G-A c.4287C>T p.C1429= Synonymous 31/50 - 1
9-107568701-A-T c.4285T>A p.C1429S Missense 31/50 - 1
9-107568700-C-G c.4286G>C p.C1429S Missense 31/50 - 1
9-107568702-G-A c.4284C>T p.P1428= Synonymous 31/50 - 1
9-107568702-G-C c.4284C>G p.P1428= Synonymous 31/50 - 1
9-107568702-G-T c.4284C>A p.P1428= Synonymous 31/50 - 1
9-107568703-G-A c.4283C>T p.P1428L Missense 31/50 - 1
9-107568705-C-T c.4281G>A p.T1427= Synonymous 31/50 - 6
9-107568706-G-A c.4280C>T p.T1427M Missense 31/50 - 1
9-107568708-G-A c.4278C>T p.D1426= Synonymous 31/50 - 1
9-107569337-T-C c.4275-626A>G - IntronicSNV - 30/49 1
9-107571208-G-A c.4274+539C>T - IntronicSNV - 30/49 1
9-107571241-C-T c.4274+506G>A - IntronicSNV - 30/49 1
9-107571747-G-A c.4274C>T p.P1425L Missense 30/50 - 1
9-107571749-G-T c.4272C>A p.I1424= Synonymous 30/50 - 1
9-107571749-G-A c.4272C>T p.I1424= Synonymous 30/50 - 1
9-107571754-G-A c.4267C>T p.P1423S Missense 30/50 - 1
9-107571758-TCC-ATG c.4261_4263delinsCAT p.G1421H Missense 30/50 - 1
9-107571760-C-T c.4261G>A p.G1421R Missense 30/50 - 1
9-107571760-C-G c.4261G>C p.G1421R Missense 30/50 - 1
9-107571768-C-T c.4253G>A p.C1418Y Missense 30/50 - 1
9-107571769-A-T c.4252T>A p.C1418S Missense 30/50 - 1
9-107571768-C-G c.4253G>C p.C1418S Missense 30/50 - 1
9-107571771-C-T c.4250G>A p.R1417H Missense 30/50 - 1
9-107571772-G-A c.4249C>T p.R1417C Missense 30/50 - 1
9-107571778-C-T c.4243G>A p.G1415R Missense 30/50 - 1
9-107571779-G-A c.4242C>T p.F1414= Synonymous 30/50 - 2
9-107571782-G-A c.4239C>T p.G1413= Synonymous 30/50 - 1
9-107571783-C-G c.4238G>C p.G1413A Missense 30/50 - 1
9-107571783-C-T c.4238G>A p.G1413D Missense 30/50 - 1
9-107571786-G-C c.4235C>G p.P1412R Missense 30/50 - 1
9-107571790-C-A c.4231G>T p.D1411Y Missense 30/50 - 1
9-107571792-T-C c.4229A>G p.K1410R Missense 30/50 - 1
9-107571793-T-C c.4228A>G p.K1410E Missense 30/50 - 1
9-107571794-G-A c.4227C>T p.T1409= Synonymous 30/50 - 1
9-107571799-G-A c.4222C>T p.L1408F Missense 30/50 - 2
9-107571802-C-T c.4219G>A p.A1407T Missense 30/50 - 2
9-107571803-G-A c.4218C>T p.N1406= Synonymous 30/50 - 1
9-107571803-G-C c.4218C>G p.N1406K Missense 30/50 - 1
9-107571807-A-G c.4214T>C p.L1405S Missense 30/50 - 1
9-107571812-T-C c.4209A>G p.E1403= Synonymous 30/50 - 1
9-107571813-T-C c.4208A>G p.E1403G Missense 30/50 - 1
9-107571815-C-T c.4206G>A p.L1402= Synonymous 30/50 - 1
9-107571819-G-A c.4202C>T p.T1401I Missense 30/50 - 1
9-107571819-G-T c.4202C>A p.T1401N Missense 30/50 - 1
9-107571823-C-T c.4198G>A p.G1400R Missense 30/50 - 1
9-107571824-C-T c.4197G>A p.T1399= Synonymous 30/50 - 1
9-107571825-G-A c.4196C>T p.T1399M Missense 30/50 - 1
9-107571826-T-A c.4195A>T p.T1399S Missense 30/50 - 1
9-107571827-G-A c.4194C>T p.D1398= Synonymous 30/50 - 1
9-107571832-C-T c.4189G>A p.E1397K Missense 30/50 - 1
9-107571837-G-A c.4184C>T p.A1395V Missense 30/50 - 1
9-107571839-A-C c.4182T>G p.D1394E Missense 30/50 - 1
9-107571843-T-C c.4178A>G p.N1393S Missense 30/50 - 1
9-107571845-G-A c.4176C>T p.S1392= Synonymous 30/50 - 1
9-107571845-G-T c.4176C>A p.S1392R Missense 30/50 - 1
9-107571872-T-C c.4176-27A>G - IntronicSNV - 29/49 1
9-107573080-C-A c.4175+1G>T - IntronicSNV - 29/49 1
9-107573083-G-A c.4173C>T p.V1391= Synonymous 29/50 - 1
9-107573095-C-T c.4161G>A p.Q1387= Synonymous 29/50 - 1
9-107573100-C-G c.4156G>C p.E1386Q Missense 29/50 - 1
9-107573100-C-T c.4156G>A p.E1386K Missense 29/50 - 1
9-107573101-G-A c.4155C>T p.N1385= Synonymous 29/50 - 1
9-107573102-T-G c.4154A>C p.N1385T Missense 29/50 - 1
9-107573103-T-C c.4153A>G p.N1385D Missense 29/50 - 1
9-107573110-C-A c.4146G>T p.W1382C Missense 29/50 - 1
9-107573110-C-G c.4146G>C p.W1382C Missense 29/50 - 1
9-107573129-C-T c.4127G>A p.S1376N Missense 29/50 - 1
9-107573130-T-C c.4126A>G p.S1376G Missense 29/50 - 1
9-107573132-G-C c.4124C>G p.P1375R Missense 29/50 - 1
9-107573149-T-C c.4107A>G p.P1369= Synonymous 29/50 - 1
9-107573154-C-T c.4102G>A p.V1368M Missense 29/50 - 2
9-107573155-G-A c.4101C>T p.I1367= Synonymous 29/50 - 1
9-107573163-T-C c.4093A>G p.S1365G Missense 29/50 - 1
9-107573169-C-T c.4087G>A p.V1363M Missense 29/50 - 1
9-107573172-G-A c.4084C>T p.L1362F Missense 29/50 - 1
9-107573173-G-A c.4083C>T p.A1361= Synonymous 29/50 - 1
9-107573173-G-C c.4083C>G p.A1361= Synonymous 29/50 - 1
9-107573174-G-A c.4082C>T p.A1361V Missense 29/50 - 1
9-107573177-A-G c.4079T>C p.I1360T Missense 29/50 - 1
9-107573178-T-G c.4078A>C p.I1360L Missense 29/50 - 1
9-107573182-G-A c.4074C>T p.V1358= Synonymous 29/50 - 1
9-107573187-A-G c.4069T>C p.F1357L Missense 29/50 - 1
9-107573185-A-T c.4071T>A p.F1357L Missense 29/50 - 1
9-107573185-A-C c.4071T>G p.F1357L Missense 29/50 - 1
9-107573193-C-A c.4063G>T p.A1355S Missense 29/50 - 1
9-107573199-A-T c.4057T>A p.L1353M Missense 29/50 - 1
9-107573201-A-G c.4055T>C p.V1352A Missense 29/50 - 1
9-107573202-C-T c.4054G>A p.V1352I Missense 29/50 - 1
9-107573202-C-G c.4054G>C p.V1352L Missense 29/50 - 1
9-107574866-A-C c.4039T>G p.F1347V Missense 28/50 - 1
9-107574866-A-G c.4039T>C p.F1347L Missense 28/50 - 1
9-107574860-CA-C c.4044del p.F1348Lfs*19 Frameshift 28/50 - 1
9-107574868-C-T c.4037G>A p.G1346E Missense 28/50 - 3
9-107574869-C-T c.4036G>A p.G1346R Missense 28/50 - 1
9-107574869-C-G c.4036G>C p.G1346R Missense 28/50 - 1
9-107574873-C-A c.4032G>T p.R1344= Synonymous 28/50 - 1
9-107574874-C-T c.4031G>A p.R1344Q Missense 28/50 - 2
9-107574875-G-A c.4030C>T p.R1344W Missense 28/50 - 1
9-107574880-C-T c.4025G>A p.R1342Q Missense 28/50 - 2
9-107574880-C-A c.4025G>T p.R1342L Missense 28/50 - 1
9-107574881-G-A c.4024C>T p.R1342W Missense 28/50 - 2
9-107574881-G-C c.4024C>G p.R1342G Missense 28/50 - 1
9-107574881-G-T c.4024C>A p.R1342= Synonymous 28/50 - 1
9-107574879-C-T c.4026G>A p.R1342= Synonymous 28/50 - 1
9-107574879-C-G c.4026G>C p.R1342= Synonymous 28/50 - 1
9-107574879-C-A c.4026G>T p.R1342= Synonymous 28/50 - 1
9-107574883-C-G c.4022G>C p.R1341T Missense 28/50 - 2
9-107574891-T-A c.4014A>T p.L1338= Synonymous 28/50 - 1
9-107574891-T-C c.4014A>G p.L1338= Synonymous 28/50 - 1
9-107574891-T-G c.4014A>C p.L1338= Synonymous 28/50 - 1
9-107574893-G-A c.4012C>T p.L1338= Synonymous 28/50 - 1
9-107574898-C-A c.4007G>T p.R1336I Missense 28/50 - 1
9-107574903-C-T c.4002G>A p.W1334* Nonsense 28/50 - 1
9-107574905-A-T c.4000T>A p.W1334R Missense 28/50 - 1
9-107574906-C-T c.3999G>A p.L1333= Synonymous 28/50 - 1
9-107574920-A-C c.3985T>G p.F1329V Missense 28/50 - 1
9-107574927-C-T c.3978G>A p.Q1326= Synonymous 28/50 - 1
9-107574929-G-C c.3976C>G p.Q1326E Missense 28/50 - 1
9-107574930-T-C c.3975A>G p.T1325= Synonymous 28/50 - 1
9-107574931-G-A c.3974C>T p.T1325I Missense 28/50 - 1
9-107574931-G-C c.3974C>G p.T1325R Missense 28/50 - 1
9-107574932-T-C c.3973A>G p.T1325A Missense 28/50 - 1
9-107574939-C-T c.3966G>A p.W1322* Nonsense 28/50 - 1
9-107574942-G-A c.3963C>T p.G1321= Synonymous 28/50 - 1
9-107574942-G-C c.3963C>G p.G1321= Synonymous 28/50 - 1
9-107574942-G-T c.3963C>A p.G1321= Synonymous 28/50 - 1
9-107574943-C-G c.3962G>C p.G1321A Missense 28/50 - 2
9-107574957-G-A c.3948C>T p.S1316= Synonymous 28/50 - 1
9-107574957-G-C c.3948C>G p.S1316= Synonymous 28/50 - 1
9-107574957-G-T c.3948C>A p.S1316= Synonymous 28/50 - 1
9-107574960-CCC-ACA c.3943_3945delinsTGT p.G1315C Missense 28/50 - 1
9-107574960-C-T c.3945G>A p.G1315= Synonymous 28/50 - 1
9-107574961-C-T c.3944G>A p.G1315E Missense 28/50 - 2
9-107574966-G-A c.3939C>T p.G1313= Synonymous 28/50 - 1
9-107574966-G-C c.3939C>G p.G1313= Synonymous 28/50 - 1
9-107574966-G-T c.3939C>A p.G1313= Synonymous 28/50 - 1
9-107574967-C-A c.3938G>T p.G1313V Missense 28/50 - 1
9-107574968-C-A c.3937G>T p.G1313C Missense 28/50 - 1
9-107574971-C-G c.3934G>C p.D1312H Missense 28/50 - 1
9-107574974-T-C c.3931A>G p.M1311V Missense 28/50 - 1
9-107574975-C-T c.3930G>A p.G1310= Synonymous 28/50 - 1
9-107574976-C-G c.3929G>C p.G1310A Missense 28/50 - 2
9-107574976-C-A c.3929G>T p.G1310V Missense 28/50 - 1
9-107574981-G-A c.3924C>T p.L1308= Synonymous 28/50 - 1
9-107574982-A-C c.3923T>G p.L1308R Missense 28/50 - 1
9-107574987-G-A c.3918C>T p.D1306= Synonymous 28/50 - 1
9-107574991-G-A c.3914C>T p.T1305I Missense 28/50 - 1
9-107574998-T-C c.3907A>G p.R1303G Missense 28/50 - 1
9-107576399-C-A c.3901G>T p.E1301* Nonsense 27/50 - 1
9-107576403-G-A c.3897C>T p.D1299= Synonymous 27/50 - 1
9-107576407-A-G c.3893T>C p.I1298T Missense 27/50 - 1
9-107576408-T-A c.3892A>T p.I1298L Missense 27/50 - 1
9-107576408-T-C c.3892A>G p.I1298V Missense 27/50 - 1
9-107576410-T-G c.3890A>C p.D1297A Missense 27/50 - 1
9-107576412-AGA-CTC c.3886_3888delinsGAG p.S1296E Missense 27/50 - 1
9-107576413-G-C c.3887C>G p.S1296C Missense 27/50 - 1
9-107576414-A-C c.3886T>G p.S1296A Missense 27/50 - 1
9-107576417-C-A c.3883G>T p.D1295Y Missense 27/50 - 1
9-107576420-T-C c.3880A>G p.N1294D Missense 27/50 - 1
9-107576421-T-C c.3879A>G p.P1293= Synonymous 27/50 - 1
9-107576423-G-C c.3877C>G p.P1293A Missense 27/50 - 1
9-107576426-C-T c.3874G>A p.D1292N Missense 27/50 - 1
9-107576427-A-G c.3873T>C p.A1291= Synonymous 27/50 - 1
9-107576429-C-T c.3871G>A p.A1291T Missense 27/50 - 1
9-107576434-T-A c.3866A>T p.D1289V Missense 27/50 - 1
9-107576434-T-G c.3866A>C p.D1289A Missense 27/50 - 1
9-107576435-C-T c.3865G>A p.D1289N Missense 27/50 - 4
9-107576437-T-C c.3863A>G p.D1288G Missense 27/50 - 1
9-107576438-C-A c.3862G>T p.D1288Y Missense 27/50 - 1
9-107576447-A-G c.3853T>C p.F1285L Missense 27/50 - 1
9-107576448-C-T c.3852G>A p.P1284= Synonymous 27/50 - 1
9-107576449-G-A c.3851C>T p.P1284L Missense 27/50 - 1
9-107576449-G-T c.3851C>A p.P1284Q Missense 27/50 - 1
9-107576452-C-T c.3848G>A p.R1283H Missense 27/50 - 1
9-107576453-G-A c.3847C>T p.R1283C Missense 27/50 - 2
9-107576460-G-C c.3840C>G p.S1280R Missense 27/50 - 1
9-107576469-G-A c.3831C>T p.D1277= Synonymous 27/50 - 1
9-107576472-C-A c.3828G>T p.G1276= Synonymous 27/50 - 1
9-107576474-C-A c.3826G>T p.G1276W Missense 27/50 - 1
9-107576474-C-T c.3826G>A p.G1276R Missense 27/50 - 1
9-107576475-G-A c.3825C>T p.F1275= Synonymous 27/50 - 1
9-107576479-G-A c.3821C>T p.A1274V Missense 27/50 - 1
9-107576479-G-T c.3821C>A p.A1274D Missense 27/50 - 1
9-107576480-C-A c.3820G>T p.A1274S Missense 27/50 - 1
9-107576482-C-A c.3818G>T p.R1273L Missense 27/50 - 1
9-107576482-C-T c.3818G>A p.R1273Q Missense 27/50 - 1
9-107576483-G-A c.3817C>T p.R1273W Missense 27/50 - 1
9-107576483-G-T c.3817C>A p.R1273= Synonymous 27/50 - 1
9-107576484-C-A c.3816G>T p.R1272S Missense 27/50 - 1
9-107576491-C-T c.3809G>A p.R1270Q Missense 27/50 - 1
9-107576492-G-A c.3808C>T p.R1270* Nonsense 27/50 - 1
9-107576493-T-C c.3807A>G p.R1269= Synonymous 27/50 - 1
9-107576501-G-A c.3799C>T p.P1267S Missense 27/50 - 1
9-107576507-T-C c.3793A>G p.T1265A Missense 27/50 - 1
9-107576709-T-C c.3786A>G p.S1262= Synonymous 26/50 - 1
9-107576709-T-A c.3786A>T p.S1262= Synonymous 26/50 - 1
9-107576709-T-G c.3786A>C p.S1262= Synonymous 26/50 - 1
9-107576718-A-C c.3777T>G p.A1259= Synonymous 26/50 - 1
9-107576722-T-A c.3773A>T p.D1258V Missense 26/50 - 1
9-107576727-C-T c.3768G>A p.G1256= Synonymous 26/50 - 1
9-107576731-C-A c.3764G>T p.S1255I Missense 26/50 - 1
9-107576732-T-G c.3763A>C p.S1255R Missense 26/50 - 2
9-107576733-C-T c.3762G>A p.E1254= Synonymous 26/50 - 1
9-107576733-C-G c.3762G>C p.E1254D Missense 26/50 - 2
9-107576733-C-A c.3762G>T p.E1254D Missense 26/50 - 1
9-107576730-ACT-A c.3763_3764del p.S1255Wfs*5 Frameshift 26/50 - 1
9-107576738-C-T c.3757G>A p.E1253K Missense 26/50 - 1
9-107576739-G-A c.3756C>T p.A1252= Synonymous 26/50 - 1
9-107576739-G-C c.3756C>G p.A1252= Synonymous 26/50 - 1
9-107576746-T-C c.3749A>G p.K1250R Missense 26/50 - 1
9-107578048-C-G c.3738+376G>C - IntronicSNV - 25/49 1
9-107578048-C-T c.3738+376G>A - IntronicSNV - 25/49 1
9-107578428-T-C c.3734A>G p.E1245G Missense 25/50 - 1
9-107578432-G-C c.3730C>G p.L1244V Missense 25/50 - 1
9-107578432-G-T c.3730C>A p.L1244M Missense 25/50 - 1
9-107578433-G-A c.3729C>T p.T1243= Synonymous 25/50 - 1
9-107578436-C-T c.3726G>A p.T1242= Synonymous 25/50 - 1
9-107578436-C-A c.3726G>T p.T1242= Synonymous 25/50 - 1
9-107578436-C-G c.3726G>C p.T1242= Synonymous 25/50 - 1
9-107578437-G-A c.3725C>T p.T1242M Missense 25/50 - 2
9-107578439-C-G c.3723G>C p.E1241D Missense 25/50 - 1
9-107578439-C-A c.3723G>T p.E1241D Missense 25/50 - 1
9-107578442-T-C c.3720A>G p.S1240= Synonymous 25/50 - 1
9-107578447-T-C c.3715A>G p.I1239V Missense 25/50 - 1
9-107578458-G-A c.3704C>T p.S1235F Missense 25/50 - 1
9-107578468-G-A c.3694C>T p.L1232= Synonymous 25/50 - 1
9-107578472-T-C c.3690A>G p.S1230= Synonymous 25/50 - 1
9-107578478-C-T c.3684G>A p.R1228= Synonymous 25/50 - 2
9-107578479-C-T c.3683G>A p.R1228Q Missense 25/50 - 1
9-107578480-G-A c.3682C>T p.R1228W Missense 25/50 - 2
9-107578482-T-A c.3680A>T p.D1227V Missense 25/50 - 1
9-107578484-A-G c.3678T>C p.D1226= Synonymous 25/50 - 1
9-107578488-A-G c.3674T>C p.I1225T Missense 25/50 - 1
9-107578492-C-T c.3670G>A p.E1224K Missense 25/50 - 1
9-107578495-G-C c.3667C>G p.H1223D Missense 25/50 - 1
9-107578495-G-A c.3667C>T p.H1223Y Missense 25/50 - 2
9-107578504-C-T c.3658G>A p.E1220K Missense 25/50 - 1
9-107578505-C-T c.3657G>A p.V1219= Synonymous 25/50 - 1
9-107578505-C-G c.3657G>C p.V1219= Synonymous 25/50 - 1
9-107578505-C-A c.3657G>T p.V1219= Synonymous 25/50 - 1
9-107578507-C-T c.3655G>A p.V1219M Missense 25/50 - 1
9-107578512-G-A c.3650C>T p.A1217V Missense 25/50 - 1
9-107578512-G-C c.3650C>G p.A1217G Missense 25/50 - 1
9-107578514-T-C c.3648A>G p.G1216= Synonymous 25/50 - 1
9-107578515-C-A c.3647G>T p.G1216V Missense 25/50 - 7
9-107578515-C-G c.3647G>C p.G1216A Missense 25/50 - 1
9-107578518-T-A c.3644A>T p.E1215V Missense 25/50 - 1
9-107578518-T-G c.3644A>C p.E1215A Missense 25/50 - 1
9-107578519-C-T c.3643G>A p.E1215K Missense 25/50 - 1
9-107578528-C-T c.3634G>A p.A1212T Missense 25/50 - 1
9-107578529-T-C c.3633A>G p.E1211= Synonymous 25/50 - 1
9-107578531-C-T c.3631G>A p.E1211K Missense 25/50 - 1
9-107578532-A-G c.3630T>C p.Y1210= Synonymous 25/50 - 1
9-107578535-T-C c.3627A>G p.P1209= Synonymous 25/50 - 1
9-107578535-T-G c.3627A>C p.P1209= Synonymous 25/50 - 1
9-107578550-C-T c.3612G>A p.L1204= Synonymous 25/50 - 1
9-107578553-C-T c.3609G>A p.E1203= Synonymous 25/50 - 1
9-107578558-G-A c.3604C>T p.H1202Y Missense 25/50 - 1
9-107578559-C-A c.3603G>T p.G1201= Synonymous 25/50 - 1
9-107578559-C-T c.3603G>A p.G1201= Synonymous 25/50 - 1
9-107578563-A-G c.3599T>C p.I1200T Missense 25/50 - 1
9-107578564-T-C c.3598A>G p.I1200V Missense 25/50 - 1
9-107578564-T-TG c.3597dup p.I1200Hfs*4 Frameshift 25/50 - 1
9-107578566-T-C c.3596A>G p.D1199G Missense 25/50 - 1
9-107578570-C-G c.3592G>C p.E1198Q Missense 25/50 - 1
9-107578571-C-T c.3591G>A p.V1197= Synonymous 25/50 - 1
9-107578572-A-T c.3590T>A p.V1197E Missense 25/50 - 1
9-107578573-C-G c.3589G>C p.V1197L Missense 25/50 - 1
9-107578573-C-A c.3589G>T p.V1197L Missense 25/50 - 1
9-107578574-C-T c.3588G>A p.L1196= Synonymous 25/50 - 1
9-107578576-G-A c.3586C>T p.L1196= Synonymous 25/50 - 1
9-107578577-C-G c.3585G>C p.R1195= Synonymous 25/50 - 1
9-107578578-C-T c.3584G>A p.R1195Q Missense 25/50 - 2
9-107578579-G-A c.3583C>T p.R1195W Missense 25/50 - 1
9-107578581-G-A c.3581C>T p.A1194V Missense 25/50 - 1
9-107578581-G-C c.3581C>G p.A1194G Missense 25/50 - 1
9-107578582-C-CT c.3579dup p.A1194Sfs*10 Frameshift 25/50 - 1
9-107578589-C-T c.3573G>A p.V1191= Synonymous 25/50 - 1
9-107578589-C-A c.3573G>T p.V1191= Synonymous 25/50 - 1
9-107578592-A-G c.3570T>C p.H1190= Synonymous 25/50 - 1
9-107578592-A-T c.3570T>A p.H1190Q Missense 25/50 - 1
9-107578595-C-T c.3567G>A p.K1189= Synonymous 25/50 - 1
9-107578601-G-A c.3561C>T p.I1187= Synonymous 25/50 - 1
9-107578604-G-A c.3558C>T p.L1186= Synonymous 25/50 - 1
9-107578604-G-C c.3558C>G p.L1186= Synonymous 25/50 - 1
9-107578604-G-T c.3558C>A p.L1186= Synonymous 25/50 - 1
9-107578606-G-A c.3556C>T p.L1186F Missense 25/50 - 1
9-107578607-G-A c.3555C>T p.N1185= Synonymous 25/50 - 1
9-107578607-G-T c.3555C>A p.N1185K Missense 25/50 - 1
9-107578608-T-C c.3554A>G p.N1185S Missense 25/50 - 1
9-107578608-T-G c.3554A>C p.N1185T Missense 25/50 - 1
9-107578611-G-A c.3551C>T p.S1184F Missense 25/50 - 2
9-107578618-C-T c.3544G>A p.A1182T Missense 25/50 - 2
9-107578620-G-A c.3542C>T p.S1181F Missense 25/50 - 4
9-107579563-G-C c.3535+50C>G - IntronicSNV - 24/49 1
9-107579566-G-C c.3535+47C>G - IntronicSNV - 24/49 1
9-107579568-G-C c.3535+45C>G - IntronicSNV - 24/49 1
9-107579580-C-A c.3535+33G>T - IntronicSNV - 24/49 1
9-107579582-C-A c.3535+31G>T - IntronicSNV - 24/49 1
9-107579612-C-G c.3535+1G>C - IntronicSNV - 24/49 1
9-107579614-G-A c.3534C>T p.I1178= Synonymous 24/50 - 1
9-107579618-G-A c.3530C>T p.T1177I Missense 24/50 - 1
9-107579622-G-C c.3526C>G p.L1176V Missense 24/50 - 1
9-107579623-C-T c.3525G>A p.T1175= Synonymous 24/50 - 1
9-107579623-C-A c.3525G>T p.T1175= Synonymous 24/50 - 1
9-107579623-C-G c.3525G>C p.T1175= Synonymous 24/50 - 1
9-107579624-G-A c.3524C>T p.T1175M Missense 24/50 - 3
9-107579629-A-G c.3519T>C p.S1173= Synonymous 24/50 - 1
9-107579632-C-G c.3516G>C p.E1172D Missense 24/50 - 10
9-107579632-C-A c.3516G>T p.E1172D Missense 24/50 - 2
9-107579632-C-T c.3516G>A p.E1172= Synonymous 24/50 - 3
9-107579633-T-C c.3515A>G p.E1172G Missense 24/50 - 2
9-107579634-C-T c.3514G>A p.E1172K Missense 24/50 - 1
9-107579636-T-C c.3512A>G p.H1171R Missense 24/50 - 1
9-107579640-C-T c.3508G>A p.D1170N Missense 24/50 - 1
9-107579641-G-A c.3507C>T p.S1169= Synonymous 24/50 - 1
9-107579644-G-C c.3504C>G p.G1168= Synonymous 24/50 - 1
9-107579645-C-T c.3503G>A p.G1168D Missense 24/50 - 1
9-107579647-C-T c.3501G>A p.L1167= Synonymous 24/50 - 1
9-107579649-G-A c.3499C>T p.L1167= Synonymous 24/50 - 1
9-107579650-G-C c.3498C>G p.G1166= Synonymous 24/50 - 1
9-107579660-G-T c.3488C>A p.S1163Y Missense 24/50 - 1
9-107579662-A-G c.3486T>C p.S1162= Synonymous 24/50 - 1
9-107579664-T-G c.3484A>C p.S1162R Missense 24/50 - 1
9-107579666-C-T c.3482G>A p.S1161N Missense 24/50 - 1
9-107579668-C-A c.3480G>T p.Q1160H Missense 24/50 - 1
9-107579668-C-G c.3480G>C p.Q1160H Missense 24/50 - 1
9-107579669-T-C c.3479A>G p.Q1160R Missense 24/50 - 1
9-107579672-G-C c.3476C>G p.S1159C Missense 24/50 - 1
9-107579676-C-T c.3472G>A p.V1158I Missense 24/50 - 1
9-107579677-A-C c.3471T>G p.S1157R Missense 24/50 - 1
9-107579678-C-T c.3470G>A p.S1157N Missense 24/50 - 1
9-107579679-T-C c.3469A>G p.S1157G Missense 24/50 - 1
9-107579880-C-T c.3463-195G>A - IntronicSNV - 23/49 1
9-107580842-T-C c.3462+102A>G - IntronicSNV - 23/49 1
9-107580944-CT-C c.3461del p.K1154Rfs*23 Frameshift 23/50 - 1
9-107580956-T-C c.3450A>G p.S1150= Synonymous 23/50 - 1
9-107580963-G-A c.3443C>T p.T1148I Missense 23/50 - 1
9-107580965-G-A c.3441C>T p.S1147= Synonymous 23/50 - 1
9-107580966-C-T c.3440G>A p.S1147N Missense 23/50 - 1
9-107580969-C-T c.3437G>A p.S1146N Missense 23/50 - 1
9-107580970-T-G c.3436A>C p.S1146R Missense 23/50 - 1
9-107580974-G-A c.3432C>T p.N1144= Synonymous 23/50 - 1
9-107580984-G-A c.3422C>T p.S1141F Missense 23/50 - 2
9-107580984-G-T c.3422C>A p.S1141Y Missense 23/50 - 1
9-107580987-C-A c.3419G>T p.S1140I Missense 23/50 - 1
9-107580989-G-A c.3417C>T p.L1139= Synonymous 23/50 - 1
9-107580989-G-C c.3417C>G p.L1139= Synonymous 23/50 - 1
9-107580989-G-T c.3417C>A p.L1139= Synonymous 23/50 - 1
9-107580990-A-G c.3416T>C p.L1139P Missense 23/50 - 1
9-107580991-G-C c.3415C>G p.L1139V Missense 23/50 - 1
9-107580991-G-T c.3415C>A p.L1139I Missense 23/50 - 1
9-107580992-G-A c.3414C>T p.S1138= Synonymous 23/50 - 1
9-107580996-G-A c.3410C>T p.S1137F Missense 23/50 - 1
9-107580998-T-G c.3408A>C p.E1136D Missense 23/50 - 1
9-107581000-C-T c.3406G>A p.E1136K Missense 23/50 - 1
9-107581002-A-G c.3404T>C p.V1135A Missense 23/50 - 1
9-107581010-C-A c.3396G>T p.K1132N Missense 23/50 - 1
9-107581010-CT-C c.3395del p.K1132Rfs*21 Frameshift 23/50 - 1
9-107581024-G-A c.3382C>T p.L1128= Synonymous 23/50 - 1
9-107581024-G-T c.3382C>A p.L1128M Missense 23/50 - 1
9-107581026-T-C c.3380A>G p.Y1127C Missense 23/50 - 1
9-107581027-A-T c.3379T>A p.Y1127N Missense 23/50 - 1
9-107581028-G-A c.3378C>T p.Y1126= Synonymous 23/50 - 1
9-107581029-T-C c.3377A>G p.Y1126C Missense 23/50 - 1
9-107581030-A-G c.3376T>C p.Y1126H Missense 23/50 - 1
9-107581035-G-A c.3371C>T p.T1124I Missense 23/50 - 1
9-107581038-C-T c.3368G>A p.G1123E Missense 23/50 - 1
9-107581042-G-A c.3364C>T p.L1122= Synonymous 23/50 - 2
9-107581055-A-C c.3351T>G p.F1117L Missense 23/50 - 1
9-107581058-C-T c.3348G>A p.L1116= Synonymous 23/50 - 1
9-107581061-G-T c.3345C>A p.S1115= Synonymous 23/50 - 1
9-107581061-G-A c.3345C>T p.S1115= Synonymous 23/50 - 1
9-107581061-G-C c.3345C>G p.S1115= Synonymous 23/50 - 1
9-107581064-G-A c.3342C>T p.S1114= Synonymous 23/50 - 1
9-107581064-G-T c.3342C>A p.S1114= Synonymous 23/50 - 1
9-107581064-G-C c.3342C>G p.S1114= Synonymous 23/50 - 1
9-107581072-C-A c.3334G>T p.V1112L Missense 23/50 - 1
9-107581073-A-T c.3333T>A p.C1111* Nonsense 23/50 - 1
9-107581096-T-C c.3310A>G p.I1104V Missense 23/50 - 1
9-107581099-T-C c.3307A>G p.I1103V Missense 23/50 - 1
9-107581110-T-G c.3296A>C p.D1099A Missense 23/50 - 1
9-107581111-C-A c.3295G>T p.D1099Y Missense 23/50 - 6
9-107581111-C-T c.3295G>A p.D1099N Missense 23/50 - 1
9-107581114-C-A c.3292G>T p.G1098W Missense 23/50 - 1
9-107581118-G-A c.3288C>T p.V1096= Synonymous 23/50 - 1
9-107581118-G-T c.3288C>A p.V1096= Synonymous 23/50 - 1
9-107581120-C-T c.3286G>A p.V1096I Missense 23/50 - 3
9-107581121-G-A c.3285C>T p.D1095= Synonymous 23/50 - 1
9-107581125-G-A c.3281C>T p.A1094V Missense 23/50 - 1
9-107581134-A-G c.3272T>C p.M1091T Missense 23/50 - 6
9-107581135-T-G c.3271A>C p.M1091L Missense 23/50 - 1
9-107581135-T-A c.3271A>T p.M1091L Missense 23/50 - 1
9-107581135-T-C c.3271A>G p.M1091V Missense 23/50 - 1
9-107581136-G-A c.3270C>T p.H1090= Synonymous 23/50 - 1
9-107581144-T-C c.3262A>G p.T1088A Missense 23/50 - 1
9-107581148-G-A c.3258C>T p.L1086= Synonymous 23/50 - 1
9-107581148-G-C c.3258C>G p.L1086= Synonymous 23/50 - 1
9-107581149-A-G c.3257T>C p.L1086P Missense 23/50 - 1
9-107581150-G-C c.3256C>G p.L1086V Missense 23/50 - 1
9-107581153-T-C c.3253A>G p.I1085V Missense 23/50 - 1
9-107581156-T-C c.3250A>G p.I1084V Missense 23/50 - 1
9-107581159-T-A c.3247A>T p.T1083S Missense 23/50 - 1
9-107581161-C-T c.3245G>A p.R1082H Missense 23/50 - 2
9-107581162-G-A c.3244C>T p.R1082C Missense 23/50 - 1
9-107581164-C-T c.3242G>A p.G1081D Missense 23/50 - 1
9-107581307-C-T c.3242-143G>A - IntronicSNV - 22/49 1
9-107581749-A-C c.3241+118T>G - IntronicSNV - 22/49 2
9-107581749-A-T c.3241+118T>A - IntronicSNV - 22/49 2
9-107581868-T-C c.3240A>G p.Q1080= Synonymous 22/50 - 1
9-107581872-C-T c.3236G>A p.R1079Q Missense 22/50 - 1
9-107581874-G-A c.3234C>T p.Y1078= Synonymous 22/50 - 1
9-107581877-T-C c.3231A>G p.K1077= Synonymous 22/50 - 1
9-107581886-C-A c.3222G>T p.L1074= Synonymous 22/50 - 1
9-107581886-C-T c.3222G>A p.L1074= Synonymous 22/50 - 1
9-107581886-C-G c.3222G>C p.L1074= Synonymous 22/50 - 1
9-107581888-G-A c.3220C>T p.L1074= Synonymous 22/50 - 1
9-107581887-A-C c.3221T>G p.L1074R Missense 22/50 - 1
9-107581892-C-T c.3216G>A p.W1072* Nonsense 22/50 - 1
9-107581899-C-G c.3209G>C p.G1070A Missense 22/50 - 1
9-107581899-C-A c.3209G>T p.G1070V Missense 22/50 - 2
9-107581904-G-A c.3204C>T p.R1068= Synonymous 22/50 - 2
9-107581904-G-T c.3204C>A p.R1068= Synonymous 22/50 - 1
9-107581904-G-C c.3204C>G p.R1068= Synonymous 22/50 - 1
9-107581905-C-T c.3203G>A p.R1068H Missense 22/50 - 3
9-107581905-C-A c.3203G>T p.R1068L Missense 22/50 - 1
9-107581906-G-A c.3202C>T p.R1068C Missense 22/50 - 2
9-107581907-G-A c.3201C>T p.S1067= Synonymous 22/50 - 1
9-107581908-G-C c.3200C>G p.S1067C Missense 22/50 - 2
9-107581915-G-A c.3193C>T p.P1065S Missense 22/50 - 5
9-107581916-G-A c.3192C>T p.D1064= Synonymous 22/50 - 1
9-107581921-C-T c.3187G>A p.V1063M Missense 22/50 - 1
9-107581923-C-G c.3185G>C p.G1062A Missense 22/50 - 1
9-107581923-C-T c.3185G>A p.G1062D Missense 22/50 - 1
9-107581932-G-A c.3176C>T p.P1059L Missense 22/50 - 1
9-107581940-C-A c.3168G>T p.L1056= Synonymous 22/50 - 1
9-107581940-C-T c.3168G>A p.L1056= Synonymous 22/50 - 1
9-107581940-C-G c.3168G>C p.L1056= Synonymous 22/50 - 1
9-107581942-G-A c.3166C>T p.L1056= Synonymous 22/50 - 1
9-107581941-A-G c.3167T>C p.L1056P Missense 22/50 - 1
9-107581949-A-C c.3159T>G p.V1053= Synonymous 22/50 - 1
9-107581951-C-T c.3157G>A p.V1053I Missense 22/50 - 1
9-107581953-T-G c.3155A>C p.K1052T Missense 22/50 - 1
9-107581953-T-C c.3155A>G p.K1052R Missense 22/50 - 1
9-107581959-C-A c.3149G>T p.G1050V Missense 22/50 - 1
9-107581959-C-T c.3149G>A p.G1050E Missense 22/50 - 1
9-107581960-C-T c.3148G>A p.G1050R Missense 22/50 - 1
9-107581961-C-T c.3147G>A p.G1049= Synonymous 22/50 - 1
9-107581961-C-A c.3147G>T p.G1049= Synonymous 22/50 - 1
9-107581961-C-G c.3147G>C p.G1049= Synonymous 22/50 - 1
9-107581963-C-T c.3145G>A p.G1049R Missense 22/50 - 1
9-107581964-G-A c.3144C>T p.V1048= Synonymous 22/50 - 1
9-107581964-G-T c.3144C>A p.V1048= Synonymous 22/50 - 1
9-107581966-C-T c.3142G>A p.V1048I Missense 22/50 - 1
9-107581971-G-T c.3137C>A p.A1046D Missense 22/50 - 6
9-107581975-A-C c.3133T>G p.L1045V Missense 22/50 - 1
9-107581982-A-C c.3126T>G p.S1042= Synonymous 22/50 - 1
9-107581983-G-A c.3125C>T p.S1042F Missense 22/50 - 2
9-107581985-T-C c.3123A>G p.L1041= Synonymous 22/50 - 1
9-107581987-G-C c.3121C>G p.L1041V Missense 22/50 - 4
9-107581989-T-C c.3119A>G p.K1040R Missense 22/50 - 1
9-107581996-G-A c.3112C>T p.Q1038* Nonsense 22/50 - 2
9-107582004-C-CTA c.3104-1_3104insTA p.G1035Vfs*43 SpliceAcceptorInsertion - - 1
9-107582203-C-T c.3103+5G>A - IntronicSNV - 21/49 1
9-107582212-C-G c.3099G>C p.L1033= Synonymous 21/50 - 1
9-107582212-C-T c.3099G>A p.L1033= Synonymous 21/50 - 1
9-107582213-A-G c.3098T>C p.L1033P Missense 21/50 - 2
9-107582219-C-T c.3092G>A p.S1031N Missense 21/50 - 1
9-107582222-G-A c.3089C>T p.T1030I Missense 21/50 - 1
9-107582234-A-G c.3077T>C p.L1026P Missense 21/50 - 2
9-107582239-G-A c.3072C>T p.S1024= Synonymous 21/50 - 1
9-107582239-G-T c.3072C>A p.S1024R Missense 21/50 - 1
9-107582240-C-T c.3071G>A p.S1024N Missense 21/50 - 1
9-107582245-T-A c.3066A>T p.P1022= Synonymous 21/50 - 1
9-107582245-T-C c.3066A>G p.P1022= Synonymous 21/50 - 1
9-107582246-G-C c.3065C>G p.P1022R Missense 21/50 - 1
9-107582246-G-A c.3065C>T p.P1022L Missense 21/50 - 1
9-107582247-G-C c.3064C>G p.P1022A Missense 21/50 - 1
9-107582247-G-T c.3064C>A p.P1022T Missense 21/50 - 1
9-107582248-C-T c.3063G>A p.L1021= Synonymous 21/50 - 1
9-107582255-A-G c.3056T>C p.V1019A Missense 21/50 - 1
9-107582256-C-T c.3055G>A p.V1019I Missense 21/50 - 1
9-107582257-A-G c.3054T>C p.D1018= Synonymous 21/50 - 1
9-107582257-A-T c.3054T>A p.D1018E Missense 21/50 - 1
9-107582258-T-C c.3053A>G p.D1018G Missense 21/50 - 4
9-107582258-T-A c.3053A>T p.D1018V Missense 21/50 - 1
9-107582259-C-T c.3052G>A p.D1018N Missense 21/50 - 1
9-107582264-G-A c.3047C>T p.A1016V Missense 21/50 - 1
9-107582265-C-T c.3046G>A p.A1016T Missense 21/50 - 1
9-107582267-A-T c.3044T>A p.M1015K Missense 21/50 - 1
9-107582272-C-G c.3039G>C p.E1013D Missense 21/50 - 1
9-107582272-C-A c.3039G>T p.E1013D Missense 21/50 - 1
9-107582275-C-T c.3036G>A p.M1012I Missense 21/50 - 1
9-107582281-C-T c.3030G>A p.A1010= Synonymous 21/50 - 1
9-107582282-G-A c.3029C>T p.A1010V Missense 21/50 - 1
9-107582282-G-T c.3029C>A p.A1010E Missense 21/50 - 1
9-107582286-T-C c.3025A>G p.K1009E Missense 21/50 - 1
9-107582289-C-T c.3022G>A p.V1008M Missense 21/50 - 2
9-107582289-C-A c.3022G>T p.V1008L Missense 21/50 - 1
9-107582290-G-A c.3021C>T p.H1007= Synonymous 21/50 - 1
9-107582291-T-TGCTTCTCAGAGAGCCCTTTCAAGC c.2996_3019dup p.R999_K1006dup inframe_insertion 21/50 - 1
9-107582291-T-G c.3020A>C p.H1007P Missense 21/50 - 1
9-107582296-C-T c.3015G>A p.E1005= Synonymous 21/50 - 1
9-107582298-C-A c.3013G>T p.E1005* Nonsense 21/50 - 3
9-107582305-C-A c.3006G>T p.G1002= Synonymous 21/50 - 1
9-107582309-T-C c.3002A>G p.K1001R Missense 21/50 - 1
9-107582315-C-A c.2996G>T p.R999L Missense 21/50 - 1
9-107582315-C-T c.2996G>A p.R999H Missense 21/50 - 1
9-107582316-G-A c.2995C>T p.R999C Missense 21/50 - 1
9-107582316-G-C c.2995C>G p.R999G Missense 21/50 - 1
9-107582323-G-A c.2988C>T p.F996= Synonymous 21/50 - 1
9-107582323-G-C c.2988C>G p.F996L Missense 21/50 - 1
9-107582340-C-T c.2971G>A p.E991K Missense 21/50 - 1
9-107582341-G-A c.2970C>T p.V990= Synonymous 21/50 - 1
9-107582345-G-A c.2966C>T p.T989I Missense 21/50 - 1
9-107582780-G-A c.2961-430C>T - IntronicSNV - 20/49 1
9-107583656-A-T c.2960T>A p.M987K Missense 20/50 - 1
9-107583657-T-A c.2959A>T p.M987L Missense 20/50 - 1
9-107583657-T-G c.2959A>C p.M987L Missense 20/50 - 1
9-107583658-G-T c.2958C>A p.D986E Missense 20/50 - 1
9-107583660-C-G c.2956G>C p.D986H Missense 20/50 - 1
9-107583660-C-T c.2956G>A p.D986N Missense 20/50 - 1
9-107583664-C-G c.2952G>C p.L984= Synonymous 20/50 - 1
9-107583664-C-T c.2952G>A p.L984= Synonymous 20/50 - 1
9-107583666-G-T c.2950C>A p.L984M Missense 20/50 - 1
9-107583669-C-T c.2947G>A p.V983M Missense 20/50 - 3
9-107583670-G-A c.2946C>T p.N982= Synonymous 20/50 - 1
9-107583671-T-C c.2945A>G p.N982S Missense 20/50 - 1
9-107583673-A-G c.2943T>C p.H981= Synonymous 20/50 - 1
9-107583674-T-A c.2942A>T p.H981L Missense 20/50 - 1
9-107583674-T-C c.2942A>G p.H981R Missense 20/50 - 1
9-107583681-G-T c.2935C>A p.P979T Missense 20/50 - 1
9-107583685-G-T c.2931C>A p.V977= Synonymous 20/50 - 1
9-107583685-G-C c.2931C>G p.V977= Synonymous 20/50 - 1
9-107583685-G-A c.2931C>T p.V977= Synonymous 20/50 - 1
9-107583688-C-T c.2928G>A p.G976= Synonymous 20/50 - 1
9-107583697-C-A c.2919G>T p.Q973H Missense 20/50 - 1
9-107583697-C-G c.2919G>C p.Q973H Missense 20/50 - 1
9-107583700-C-T c.2916G>A p.R972= Synonymous 20/50 - 1
9-107583701-C-T c.2915G>A p.R972Q Missense 20/50 - 1
9-107583702-G-A c.2914C>T p.R972W Missense 20/50 - 1
9-107583706-G-A c.2910C>T p.T970= Synonymous 20/50 - 1
9-107583711-T-G c.2905A>C p.S969R Missense 20/50 - 1
9-107583713-A-G c.2903T>C p.M968T Missense 20/50 - 1
9-107583722-C-T c.2894G>A p.R965H Missense 20/50 - 1
9-107583723-G-A c.2893C>T p.R965C Missense 20/50 - 1
9-107583723-G-C c.2893C>G p.R965G Missense 20/50 - 1
9-107583729-C-T c.2887G>A p.D963N Missense 20/50 - 1
9-107583729-C-G c.2887G>C p.D963H Missense 20/50 - 1
9-107583733-T-A c.2883A>T p.G961= Synonymous 20/50 - 1
9-107583739-G-A c.2877C>T p.I959= Synonymous 20/50 - 1
9-107583741-T-C c.2875A>G p.I959V Missense 20/50 - 1
9-107583747-C-T c.2869G>A p.A957T Missense 20/50 - 1
9-107583748-G-A c.2868C>T p.T956= Synonymous 20/50 - 1
9-107583751-G-A c.2865C>T p.G955= Synonymous 20/50 - 1
9-107583751-G-C c.2865C>G p.G955= Synonymous 20/50 - 1
9-107583753-C-T c.2863G>A p.G955S Missense 20/50 - 1
9-107583754-C-A c.2862G>T p.S954= Synonymous 20/50 - 1
9-107583754-C-T c.2862G>A p.S954= Synonymous 20/50 - 1
9-107583755-G-A c.2861C>T p.S954L Missense 20/50 - 2
9-107583758-G-A c.2858C>T p.T953I Missense 20/50 - 1
9-107583760-C-T c.2856G>A p.P952= Synonymous 20/50 - 1
9-107583759-T-TC c.2856dup p.T953Dfs*15 Frameshift 20/50 - 1
9-107583762-G-A c.2854C>T p.P952S Missense 20/50 - 1
9-107583762-G-C c.2854C>G p.P952A Missense 20/50 - 1
9-107583764-G-T c.2852C>A p.P951H Missense 20/50 - 1
9-107583765-G-A c.2851C>T p.P951S Missense 20/50 - 1
9-107583766-G-A c.2850C>T p.F950= Synonymous 20/50 - 1
9-107583767-A-G c.2849T>C p.F950S Missense 20/50 - 1
9-107583768-A-G c.2848T>C p.F950L Missense 20/50 - 1
9-107583766-G-T c.2850C>A p.F950L Missense 20/50 - 1
9-107583766-G-C c.2850C>G p.F950L Missense 20/50 - 1
9-107583773-C-T c.2843G>A p.G948E Missense 20/50 - 1
9-107583774-C-T c.2842G>A p.G948R Missense 20/50 - 1
9-107583775-G-A c.2841C>T p.T947= Synonymous 20/50 - 1
9-107583775-G-C c.2841C>G p.T947= Synonymous 20/50 - 1
9-107583776-G-T c.2840C>A p.T947N Missense 20/50 - 1
9-107583787-C-G c.2829G>C p.M943I Missense 20/50 - 1
9-107584312-G-C c.2828+465C>G - IntronicSNV - 19/49 1
9-107584351-T-C c.2828+426A>G - IntronicSNV - 19/49 3
9-107584777-A-G c.2828T>C p.M943T Missense 19/50 - 1
9-107584783-G-A c.2822C>T p.T941I Missense 19/50 - 1
9-107584785-C-T c.2820G>A p.T940= Synonymous 19/50 - 1
9-107584786-G-A c.2819C>T p.T940M Missense 19/50 - 1
9-107584789-T-A c.2816A>T p.K939M Missense 19/50 - 9
9-107584791-C-G c.2814G>C p.G938= Synonymous 19/50 - 1
9-107584791-C-T c.2814G>A p.G938= Synonymous 19/50 - 1
9-107584794-C-G c.2811G>C p.A937= Synonymous 19/50 - 1
9-107584794-C-T c.2811G>A p.A937= Synonymous 19/50 - 1
9-107584790-T-TC c.2814dup p.K939Efs*29 Frameshift 19/50 - 1
9-107584795-G-A c.2810C>T p.A937V Missense 19/50 - 12
9-107584797-T-G c.2808A>C p.G936= Synonymous 19/50 - 1
9-107584801-T-C c.2804A>G p.N935S Missense 19/50 - 12
9-107584801-T-G c.2804A>C p.N935T Missense 19/50 - 1
9-107584806-G-A c.2799C>T p.G933= Synonymous 19/50 - 1
9-107584816-G-A c.2789C>T p.S930F Missense 19/50 - 2
9-107584817-A-T c.2788T>A p.S930T Missense 19/50 - 1
9-107584819-G-A c.2786C>T p.T929I Missense 19/50 - 2
9-107584823-T-A c.2782A>T p.I928F Missense 19/50 - 1
9-107584828-C-T c.2777G>A p.G926D Missense 19/50 - 1
9-107584832-C-T c.2773G>A p.E925K Missense 19/50 - 1
9-107584839-ATT-TTA c.2764_2766delinsTAA p.N922* Nonsense 19/50 - 1
9-107584853-C-T c.2752G>A p.G918S Missense 19/50 - 1
9-107584855-T-C c.2750A>G p.D917G Missense 19/50 - 1
9-107584856-C-T c.2749G>A p.D917N Missense 19/50 - 1
9-107584856-C-A c.2749G>T p.D917Y Missense 19/50 - 1
9-107584857-G-A c.2748C>T p.V916= Synonymous 19/50 - 1
9-107584857-G-T c.2748C>A p.V916= Synonymous 19/50 - 1
9-107584857-G-C c.2748C>G p.V916= Synonymous 19/50 - 1
9-107584858-A-G c.2747T>C p.V916A Missense 19/50 - 1
9-107584860-A-G c.2745T>C p.A915= Synonymous 19/50 - 1
9-107584870-A-C c.2735T>G p.M912R Missense 19/50 - 1
9-107584875-A-G c.2730T>C p.D910= Synonymous 19/50 - 1
9-107584877-C-T c.2728G>A p.D910N Missense 19/50 - 1
9-107584879-C-T c.2726G>A p.R909Q Missense 19/50 - 2
9-107584879-C-A c.2726G>T p.R909L Missense 19/50 - 1
9-107584880-G-A c.2725C>T p.R909* Nonsense 19/50 - 3
9-107584896-G-GT c.2708dup p.N903Kfs*23 Frameshift 19/50 - 1
9-107584900-T-C c.2705A>G p.Q902R Missense 19/50 - 1
9-107584905-G-A c.2700C>T p.S900= Synonymous 19/50 - 1
9-107584908-C-T c.2697G>A p.V899= Synonymous 19/50 - 1
9-107584910-C-T c.2695G>A p.V899M Missense 19/50 - 1
9-107584911-G-A c.2694C>T p.G898= Synonymous 19/50 - 1
9-107584923-G-A c.2682C>T p.H894= Synonymous 19/50 - 1
9-107584924-T-A c.2681A>T p.H894L Missense 19/50 - 1
9-107584925-G-C c.2680C>G p.H894D Missense 19/50 - 1
9-107584925-G-A c.2680C>T p.H894Y Missense 19/50 - 1
9-107584926-G-A c.2679C>T p.T893= Synonymous 19/50 - 1
9-107584926-G-T c.2679C>A p.T893= Synonymous 19/50 - 1
9-107584927-G-A c.2678C>T p.T893I Missense 19/50 - 1
9-107584929-G-A c.2676C>T p.P892= Synonymous 19/50 - 1
9-107584935-C-T c.2670G>A p.E890= Synonymous 19/50 - 1
9-107584940-C-G c.2665G>C p.E889Q Missense 19/50 - 1
9-107584942-A-C c.2663T>G p.M888R Missense 19/50 - 1
9-107584944-G-A c.2661C>T p.C887= Synonymous 19/50 - 1
9-107584945-C-A c.2660G>T p.C887F Missense 19/50 - 2
9-107585016-G-C c.2657-68C>G - IntronicSNV - 18/49 1
9-107586746-T-G c.2656A>C p.I886L Missense 18/50 - 1
9-107586751-GA-TC c.2650_2651inv p.S884E Missense 18/50 - 1
9-107586752-A-C c.2650T>G p.S884A Missense 18/50 - 1
9-107586753-T-C c.2649A>G p.I883M Missense 18/50 - 36
9-107586755-T-G c.2647A>C p.I883L Missense 18/50 - 1
9-107586755-T-A c.2647A>T p.I883L Missense 18/50 - 1
9-107586755-T-C c.2647A>G p.I883V Missense 18/50 - 1
9-107586760-T-A c.2642A>T p.K881M Missense 18/50 - 1
9-107586760-T-C c.2642A>G p.K881R Missense 18/50 - 1
9-107586763-T-C c.2639A>G p.Q880R Missense 18/50 - 1
9-107586764-G-T c.2638C>A p.Q880K Missense 18/50 - 1
9-107586765-G-A c.2637C>T p.N879= Synonymous 18/50 - 1
9-107586766-T-A c.2636A>T p.N879I Missense 18/50 - 1
9-107586776-G-A c.2626C>T p.P876S Missense 18/50 - 1
9-107586778-T-C c.2624A>G p.H875R Missense 18/50 - 1
9-107586795-T-A c.2607A>T p.E869D Missense 18/50 - 1
9-107586795-T-C c.2607A>G p.E869= Synonymous 18/50 - 1
9-107586798-C-T c.2604G>A p.E868= Synonymous 18/50 - 1
9-107586800-C-T c.2602G>A p.E868K Missense 18/50 - 1
9-107586801-G-A c.2601C>T p.G867= Synonymous 18/50 - 1
9-107586802-C-T c.2600G>A p.G867D Missense 18/50 - 1
9-107586803-C-T c.2599G>A p.G867S Missense 18/50 - 1
9-107586809-A-T c.2593T>A p.W865R Missense 18/50 - 1
9-107586820-G-A c.2582C>T p.T861I Missense 18/50 - 1
9-107586826-G-A c.2576C>T p.P859L Missense 18/50 - 1
9-107586827-G-A c.2575C>T p.P859S Missense 18/50 - 2
9-107586831-A-G c.2571T>C p.Y857= Synonymous 18/50 - 1
9-107586833-A-G c.2569T>C p.Y857H Missense 18/50 - 1
9-107586833-AC-A c.2568del p.W856Cfs*40 Frameshift 18/50 - 1
9-107586839-G-A c.2563C>T p.P855S Missense 18/50 - 1
9-107586845-G-A c.2557C>T p.P853S Missense 18/50 - 1
9-107586847-A-C c.2555T>G p.I852S Missense 18/50 - 1
9-107586851-C-T c.2551G>A p.G851R Missense 18/50 - 3
9-107586851-C-G c.2551G>C p.G851R Missense 18/50 - 1
9-107586852-G-A c.2550C>T p.Y850= Synonymous 18/50 - 1
9-107586854-A-G c.2548T>C p.Y850H Missense 18/50 - 1
9-107586855-C-T c.2547G>A p.Q849= Synonymous 18/50 - 1
9-107586856-T-C c.2546A>G p.Q849R Missense 18/50 - 1
9-107587966-G-A c.2540C>T p.P847L Missense 17/50 - 1
9-107587972-A-G c.2534T>C p.V845A Missense 17/50 - 2
9-107587974-A-C c.2532T>G p.A844= Synonymous 17/50 - 1
9-107587974-A-G c.2532T>C p.A844= Synonymous 17/50 - 1
9-107587975-G-C c.2531C>G p.A844G Missense 17/50 - 1
9-107587976-C-A c.2530G>T p.A844S Missense 17/50 - 1
9-107587976-C-T c.2530G>A p.A844T Missense 17/50 - 1
9-107587977-C-T c.2529G>A p.E843= Synonymous 17/50 - 1
9-107587982-T-C c.2524A>G p.I842V Missense 17/50 - 1
9-107587982-T-G c.2524A>C p.I842L Missense 17/50 - 1
9-107587984-T-C c.2522A>G p.Y841C Missense 17/50 - 1
9-107587985-A-G c.2521T>C p.Y841H Missense 17/50 - 1
9-107587988-A-G c.2518T>C p.W840R Missense 17/50 - 1
9-107587994-T-C c.2512A>G p.M838V Missense 17/50 - 1
9-107587997-C-A c.2509G>T p.V837L Missense 17/50 - 1
9-107588000-C-T c.2506G>A p.G836R Missense 17/50 - 1
9-107588002-T-G c.2504A>C p.Y835S Missense 17/50 - 1
9-107588003-A-G c.2503T>C p.Y835H Missense 17/50 - 1
9-107588005-A-C c.2501T>G p.L834R Missense 17/50 - 1
9-107588011-G-T c.2495C>A p.T832N Missense 17/50 - 1
9-107588015-C-T c.2491G>A p.D831N Missense 17/50 - 1
9-107588016-A-C c.2490T>G p.F830L Missense 17/50 - 1
9-107588016-A-T c.2490T>A p.F830L Missense 17/50 - 1
9-107588021-G-C c.2485C>G p.L829V Missense 17/50 - 1
9-107588024-T-C c.2482A>G p.M828V Missense 17/50 - 1
9-107588029-G-C c.2477C>G p.S826C Missense 17/50 - 1
9-107588033-C-G c.2473G>C p.V825L Missense 17/50 - 1
9-107588033-C-T c.2473G>A p.V825I Missense 17/50 - 31
9-107588034-C-A c.2472G>T p.S824= Synonymous 17/50 - 1
9-107588034-C-G c.2472G>C p.S824= Synonymous 17/50 - 1
9-107588034-C-T c.2472G>A p.S824= Synonymous 17/50 - 1
9-107588035-G-A c.2471C>T p.S824L Missense 17/50 - 3
9-107588038-G-A c.2468C>T p.T823I Missense 17/50 - 1
9-107588040-G-A c.2466C>T p.T822= Synonymous 17/50 - 1
9-107588041-G-C c.2465C>G p.T822S Missense 17/50 - 1
9-107588042-T-A c.2464A>T p.T822S Missense 17/50 - 1
9-107588045-G-A c.2461C>T p.L821F Missense 17/50 - 1
9-107588047-T-C c.2459A>G p.N820S Missense 17/50 - 1
9-107588049-G-A c.2457C>T p.F819= Synonymous 17/50 - 1
9-107588052-G-A c.2454C>T p.G818= Synonymous 17/50 - 1
9-107588052-G-C c.2454C>G p.G818= Synonymous 17/50 - 1
9-107588052-G-T c.2454C>A p.G818= Synonymous 17/50 - 1
9-107588055-A-G c.2451T>C p.D817= Synonymous 17/50 - 1
9-107588062-T-C c.2444A>G p.E815G Missense 17/50 - 2
9-107588064-C-T c.2442G>A p.V814= Synonymous 17/50 - 1
9-107588066-C-T c.2440G>A p.V814M Missense 17/50 - 1
9-107588067-A-G c.2439T>C p.P813= Synonymous 17/50 - 1
9-107588068-G-A c.2438C>T p.P813L Missense 17/50 - 2
9-107588079-C-T c.2427G>A p.L809= Synonymous 17/50 - 1
9-107588085-G-C c.2421C>G p.D807E Missense 17/50 - 1
9-107588087-C-T c.2419G>A p.D807N Missense 17/50 - 3
9-107588092-T-G c.2414A>C p.Q805P Missense 17/50 - 1
9-107588096-C-T c.2410G>A p.V804M Missense 17/50 - 1
9-107588098-C-G c.2408G>C p.G803A Missense 17/50 - 1
9-107588102-T-A c.2404A>T p.I802F Missense 17/50 - 1
9-107588102-T-C c.2404A>G p.I802V Missense 17/50 - 1
9-107588106-C-T c.2400G>A p.Q800= Synonymous 17/50 - 1
9-107588107-T-C c.2399A>G p.Q800R Missense 17/50 - 1
9-107588117-A-T c.2389T>A p.F797I Missense 17/50 - 1
9-107588114-CA-C c.2391del p.F797Lfs*31 Frameshift 17/50 - 1
9-107588121-G-A c.2385C>T p.A795= Synonymous 17/50 - 1
9-107588124-A-G c.2382T>C p.F794= Synonymous 17/50 - 1
9-107588128-T-C c.2378A>G p.Y793C Missense 17/50 - 3
9-107588129-A-G c.2377T>C p.Y793H Missense 17/50 - 1
9-107588131-T-C c.2375A>G p.E792G Missense 17/50 - 1
9-107588134-C-G c.2372G>C p.C791S Missense 17/50 - 2
9-107588134-C-T c.2372G>A p.C791Y Missense 17/50 - 1
9-107588135-A-T c.2371T>A p.C791S Missense 17/50 - 1
9-107588142-C-A c.2364G>T p.G788= Synonymous 17/50 - 1
9-107588142-C-T c.2364G>A p.G788= Synonymous 17/50 - 1
9-107588143-C-G c.2363G>C p.G788A Missense 17/50 - 1
9-107588147-A-G c.2359T>C p.F787L Missense 17/50 - 1
9-107588145-A-T c.2361T>A p.F787L Missense 17/50 - 1
9-107588145-A-C c.2361T>G p.F787L Missense 17/50 - 1
9-107588153-C-A c.2353G>T p.V785L Missense 17/50 - 1
9-107588154-A-C c.2352T>G p.P784= Synonymous 17/50 - 1
9-107588156-G-C c.2350C>G p.P784A Missense 17/50 - 1
9-107588163-C-T c.2343G>A p.L781= Synonymous 17/50 - 1
9-107588167-C-G c.2339G>C p.S780T Missense 17/50 - 1
9-107588167-C-T c.2339G>A p.S780N Missense 17/50 - 1
9-107588328-G-A c.2338-160C>T - IntronicSNV - 16/49 2
9-107588572-A-G c.2338-404T>C - IntronicSNV - 16/49 1
9-107588777-C-T c.2337+452G>A - IntronicSNV - 16/49 2
9-107589134-A-T c.2337+95T>A - IntronicSNV - 16/49 7
9-107589230-G-A c.2336C>T p.A779V Missense 16/50 - 1
9-107589231-C-A c.2335G>T p.A779S Missense 16/50 - 1
9-107589231-C-G c.2335G>C p.A779P Missense 16/50 - 1
9-107589231-C-T c.2335G>A p.A779T Missense 16/50 - 1
9-107589232-G-A c.2334C>T p.F778= Synonymous 16/50 - 1
9-107589232-G-T c.2334C>A p.F778L Missense 16/50 - 1
9-107589237-T-C c.2329A>G p.I777V Missense 16/50 - 1
9-107589238-C-G c.2328G>C p.K776N Missense 16/50 - 14
9-107589238-C-A c.2328G>T p.K776N Missense 16/50 - 7
9-107589241-G-C c.2325C>G p.L775= Synonymous 16/50 - 1
9-107589242-A-G c.2324T>C p.L775P Missense 16/50 - 1
9-107589243-G-A c.2323C>T p.L775F Missense 16/50 - 1
9-107589244-T-C c.2322A>G p.T774= Synonymous 16/50 - 1
9-107589246-T-G c.2320A>C p.T774P Missense 16/50 - 4
9-107589250-G-A c.2316C>T p.G772= Synonymous 16/50 - 1
9-107589250-G-C c.2316C>G p.G772= Synonymous 16/50 - 1
9-107589250-G-T c.2316C>A p.G772= Synonymous 16/50 - 1
9-107589255-C-T c.2311G>A p.V771M Missense 16/50 - 24
9-107589255-C-G c.2311G>C p.V771L Missense 16/50 - 8
9-107589256-G-A c.2310C>T p.Y770= Synonymous 16/50 - 1
9-107589256-G-C c.2310C>G p.Y770* Nonsense 16/50 - 1
9-107589257-T-A c.2309A>T p.Y770F Missense 16/50 - 1
9-107589259-G-T c.2307C>A p.D769E Missense 16/50 - 1
9-107589260-T-A c.2306A>T p.D769V Missense 16/50 - 1
9-107589261-C-A c.2305G>T p.D769Y Missense 16/50 - 1
9-107589265-C-A c.2301G>T p.W767C Missense 16/50 - 1
9-107589268-T-G c.2298A>C p.A766= Synonymous 16/50 - 1
9-107589277-C-A c.2289G>T p.L763= Synonymous 16/50 - 1
9-107589277-C-T c.2289G>A p.L763= Synonymous 16/50 - 1
9-107589278-A-G c.2288T>C p.L763P Missense 16/50 - 1
9-107589279-G-T c.2287C>A p.L763M Missense 16/50 - 1
9-107589283-G-A c.2283C>T p.Y761= Synonymous 16/50 - 1
9-107589296-A-G c.2270T>C p.L757P Missense 16/50 - 1
9-107589298-C-T c.2268G>A p.T756= Synonymous 16/50 - 1
9-107589298-CGT-ACA c.2266_2268delinsTGT p.T756C Missense 16/50 - 1
9-107589299-G-A c.2267C>T p.T756M Missense 16/50 - 1
9-107589304-G-A c.2262C>T p.Y754= Synonymous 16/50 - 1
9-107589305-T-C c.2261A>G p.Y754C Missense 16/50 - 1
9-107589307-G-A c.2259C>T p.I753= Synonymous 16/50 - 1
9-107589314-C-T c.2252G>A p.G751D Missense 16/50 - 1
9-107589316-C-T c.2250G>A p.G750= Synonymous 16/50 - 1
9-107589313-GC-G c.2252del p.G751Afs*77 Frameshift 16/50 - 1
9-107589322-G-A c.2244C>T p.A748= Synonymous 16/50 - 2
9-107589322-G-C c.2244C>G p.A748= Synonymous 16/50 - 1
9-107589322-G-T c.2244C>A p.A748= Synonymous 16/50 - 1
9-107589323-G-C c.2243C>G p.A748G Missense 16/50 - 1
9-107589329-G-C c.2237C>G p.A746G Missense 16/50 - 1
9-107589331-C-A c.2235G>T p.L745= Synonymous 16/50 - 1
9-107589338-G-C c.2228C>G p.A743G Missense 16/50 - 1
9-107589339-C-T c.2227G>A p.A743T Missense 16/50 - 1
9-107589340-T-C c.2226A>G p.R742= Synonymous 16/50 - 1
9-107589343-G-A c.2223C>T p.S741= Synonymous 16/50 - 2
9-107589344-G-C c.2222C>G p.S741C Missense 16/50 - 2
9-107589348-A-C c.2218T>G p.F740V Missense 16/50 - 1
9-107589349-G-A c.2217C>T p.L739= Synonymous 16/50 - 1
9-107589349-G-T c.2217C>A p.L739= Synonymous 16/50 - 1
9-107589352-T-C c.2214A>G p.T738= Synonymous 16/50 - 1
9-107589353-G-A c.2213C>T p.T738I Missense 16/50 - 1
9-107589353-G-T c.2213C>A p.T738K Missense 16/50 - 1
9-107589370-C-A c.2196G>T p.Q732H Missense 16/50 - 1
9-107589370-C-T c.2196G>A p.Q732= Synonymous 16/50 - 1
9-107589375-G-A c.2191C>T p.L731= Synonymous 16/50 - 1
9-107589378-T-C c.2188A>G p.I730V Missense 16/50 - 1
9-107589382-C-T c.2184G>A p.V728= Synonymous 16/50 - 1
9-107589383-A-G c.2183T>C p.V728A Missense 16/50 - 1
9-107589384-C-A c.2182G>T p.V728L Missense 16/50 - 1
9-107589385-C-A c.2181G>T p.V727= Synonymous 16/50 - 1
9-107589387-C-A c.2179G>T p.V727L Missense 16/50 - 2
9-107589387-C-G c.2179G>C p.V727L Missense 16/50 - 1
9-107589390-C-A c.2176G>T p.A726S Missense 16/50 - 1
9-107589390-C-T c.2176G>A p.A726T Missense 16/50 - 1
9-107589396-C-T c.2170G>A p.V724M Missense 16/50 - 1
9-107589397-G-A c.2169C>T p.S723= Synonymous 16/50 - 1
9-107589406-G-A c.2160C>T p.V720= Synonymous 16/50 - 1
9-107589408-C-A c.2158G>T p.V720F Missense 16/50 - 1
9-107589414-C-A c.2152G>T p.V718L Missense 16/50 - 1
9-107589415-C-T c.2151G>A p.V717= Synonymous 16/50 - 1
9-107589415-CAC-AAA c.2149_2151delinsTTT p.V717F Missense 16/50 - 2
9-107589417-C-T c.2149G>A p.V717M Missense 16/50 - 1
9-107589418-G-A c.2148C>T p.S716= Synonymous 16/50 - 1
9-107589429-T-C c.2137A>G p.S713G Missense 16/50 - 1
9-107589429-T-G c.2137A>C p.S713R Missense 16/50 - 1
9-107589432-A-G c.2134T>C p.Y712H Missense 16/50 - 1
9-107589434-G-A c.2132C>T p.P711L Missense 16/50 - 1
9-107589437-A-T c.2129T>A p.L710Q Missense 16/50 - 1
9-107589438-G-A c.2128C>T p.L710= Synonymous 16/50 - 1
9-107589440-A-T c.2126T>A p.L709Q Missense 16/50 - 1
9-107589580-A-T c.2116-130T>A - IntronicSNV - 15/49 1
9-107589744-C-T c.2116-294G>A - IntronicSNV - 15/49 2
9-107591116-T-C c.2115+81A>G - IntronicSNV - 15/49 6
9-107591203-G-A c.2109C>T p.I703= Synonymous 15/50 - 1
9-107591203-G-C c.2109C>G p.I703M Missense 15/50 - 1
9-107591207-A-G c.2105T>C p.V702A Missense 15/50 - 1
9-107591209-C-A c.2103G>T p.V701= Synonymous 15/50 - 1
9-107591212-T-A c.2100A>T p.L700= Synonymous 15/50 - 1
9-107591215-C-A c.2097G>T p.L699= Synonymous 15/50 - 1
9-107591215-C-T c.2097G>A p.L699= Synonymous 15/50 - 1
9-107591215-C-G c.2097G>C p.L699= Synonymous 15/50 - 1
9-107591217-G-A c.2095C>T p.L699= Synonymous 15/50 - 1
9-107591218-G-C c.2094C>G p.G698= Synonymous 15/50 - 1
9-107591219-C-A c.2093G>T p.G698V Missense 15/50 - 1
9-107591222-G-A c.2090C>T p.A697V Missense 15/50 - 1
9-107591223-C-T c.2089G>A p.A697T Missense 15/50 - 1
9-107591224-G-A c.2088C>T p.S696= Synonymous 15/50 - 2
9-107591229-C-A c.2083G>T p.V695L Missense 15/50 - 1
9-107591230-A-G c.2082T>C p.L694= Synonymous 15/50 - 1
9-107591232-G-A c.2080C>T p.L694F Missense 15/50 - 1
9-107591229-CAAG-C c.2080_2082del p.L694del InFrameDeletion 15/50 - 1
9-107591235-G-A c.2077C>T p.L693F Missense 15/50 - 1
9-107591238-G-A c.2074C>T p.P692S Missense 15/50 - 2
9-107591238-G-T c.2074C>A p.P692T Missense 15/50 - 1
9-107591242-G-A c.2070C>T p.L690= Synonymous 15/50 - 1
9-107591242-G-C c.2070C>G p.L690= Synonymous 15/50 - 1
9-107591242-G-T c.2070C>A p.L690= Synonymous 15/50 - 1
9-107591244-G-C c.2068C>G p.L690V Missense 15/50 - 1
9-107591245-G-A c.2067C>T p.S689= Synonymous 15/50 - 1
9-107591245-G-C c.2067C>G p.S689R Missense 15/50 - 1
9-107591246-C-G c.2066G>C p.S689T Missense 15/50 - 1
9-107591253-T-C c.2059A>G p.I687V Missense 15/50 - 1
9-107591254-G-T c.2058C>A p.F686L Missense 15/50 - 1
9-107591257-C-A c.2055G>T p.W685C Missense 15/50 - 1
9-107591258-C-T c.2054G>A p.W685* Nonsense 15/50 - 1
9-107591257-C-T c.2055G>A p.W685* Nonsense 15/50 - 1
9-107591261-C-T c.2051G>A p.S684N Missense 15/50 - 1
9-107591268-A-G c.2044T>C p.W682R Missense 15/50 - 1
9-107591269-G-T c.2043C>A p.L681= Synonymous 15/50 - 1
9-107591272-G-T c.2040C>A p.I680= Synonymous 15/50 - 4
9-107591274-T-A c.2038A>T p.I680F Missense 15/50 - 1
9-107591278-G-A c.2034C>T p.N678= Synonymous 15/50 - 1
9-107591283-C-CA c.2028_2029insT p.D677* Nonsense 15/50 - 1
9-107591285-A-G c.2027T>C p.L676P Missense 15/50 - 1
9-107591289-C-T c.2023G>A p.G675S Missense 15/50 - 1
9-107591292-T-G c.2020A>C p.M674L Missense 15/50 - 1
9-107591293-G-A c.2019C>T p.I673= Synonymous 15/50 - 1
9-107591297-C-T c.2015G>A p.R672Q Missense 15/50 - 2
9-107591298-G-A c.2014C>T p.R672W Missense 15/50 - 1
9-107591301-T-A c.2011A>T p.M671L Missense 15/50 - 1
9-107591307-C-G c.2005G>C p.E669Q Missense 15/50 - 1
9-107591315-C-T c.1997G>A p.R666Q Missense 15/50 - 1
9-107591314-C-A c.1998G>T p.R666= Synonymous 15/50 - 1
9-107591314-C-G c.1998G>C p.R666= Synonymous 15/50 - 1
9-107591314-C-T c.1998G>A p.R666= Synonymous 15/50 - 1
9-107591316-G-T c.1996C>A p.R666= Synonymous 15/50 - 2
9-107591316-G-A c.1996C>T p.R666W Missense 15/50 - 2
9-107591318-G-A c.1994C>T p.A665V Missense 15/50 - 1
9-107591318-G-C c.1994C>G p.A665G Missense 15/50 - 1
9-107591320-C-T c.1992G>A p.E664= Synonymous 15/50 - 1
9-107591325-T-C c.1987A>G p.K663E Missense 15/50 - 1
9-107591334-C-A c.1978G>T p.V660L Missense 15/50 - 1
9-107591334-C-T c.1978G>A p.V660M Missense 15/50 - 1
9-107591335-G-A c.1977C>T p.I659= Synonymous 15/50 - 1
9-107591335-G-T c.1977C>A p.I659= Synonymous 15/50 - 1
9-107591337-T-C c.1975A>G p.I659V Missense 15/50 - 1
9-107591337-T-G c.1975A>C p.I659L Missense 15/50 - 1
9-107591339-C-A c.1973G>T p.G658V Missense 15/50 - 1
9-107591339-C-G c.1973G>C p.G658A Missense 15/50 - 1
9-107591340-C-G c.1972G>C p.G658R Missense 15/50 - 1
9-107591344-G-C c.1968C>G p.I656M Missense 15/50 - 1
9-107591345-A-T c.1967T>A p.I656N Missense 15/50 - 1
9-107591346-T-C c.1966A>G p.I656V Missense 15/50 - 1
9-107591356-C-T c.1956G>A p.V652= Synonymous 15/50 - 1
9-107591359-T-C c.1953A>G p.S651= Synonymous 15/50 - 1
9-107591365-A-T c.1947T>A p.I649= Synonymous 15/50 - 1
9-107591371-G-A c.1941C>T p.A647= Synonymous 15/50 - 1
9-107591371-G-T c.1941C>A p.A647= Synonymous 15/50 - 1
9-107591373-C-T c.1939G>A p.A647T Missense 15/50 - 1
9-107591374-C-A c.1938G>T p.L646= Synonymous 15/50 - 1
9-107591374-C-T c.1938G>A p.L646= Synonymous 15/50 - 1
9-107591374-C-G c.1938G>C p.L646= Synonymous 15/50 - 1
9-107591376-G-A c.1936C>T p.L646= Synonymous 15/50 - 1
9-107591377-C-T c.1935G>A p.T645= Synonymous 15/50 - 1
9-107591377-C-A c.1935G>T p.T645= Synonymous 15/50 - 1
9-107591377-C-G c.1935G>C p.T645= Synonymous 15/50 - 1
9-107591378-G-A c.1934C>T p.T645M Missense 15/50 - 1
9-107591382-T-G c.1930A>C p.M644L Missense 15/50 - 1
9-107591385-A-T c.1927T>A p.F643I Missense 15/50 - 1
9-107591386-G-C c.1926C>G p.L642= Synonymous 15/50 - 1
9-107591390-G-A c.1922C>T p.P641L Missense 15/50 - 1
9-107591392-C-G c.1920G>C p.M640I Missense 15/50 - 1
9-107591392-C-T c.1920G>A p.M640I Missense 15/50 - 1
9-107591392-C-A c.1920G>T p.M640I Missense 15/50 - 1
9-107591394-T-C c.1918A>G p.M640V Missense 15/50 - 1
9-107591394-T-G c.1918A>C p.M640L Missense 15/50 - 1
9-107591394-T-A c.1918A>T p.M640L Missense 15/50 - 1
9-107591399-C-T c.1913G>A p.R638Q Missense 15/50 - 3
9-107591400-G-A c.1912C>T p.R638W Missense 15/50 - 1
9-107591405-A-G c.1907T>C p.M636T Missense 15/50 - 1
9-107591406-T-C c.1906A>G p.M636V Missense 15/50 - 1
9-107591408-A-G c.1904T>C p.V635A Missense 15/50 - 1
9-107591411-C-T c.1901G>A p.R634Q Missense 15/50 - 1
9-107591412-G-A c.1900C>T p.R634W Missense 15/50 - 1
9-107591415-G-C c.1897C>G p.L633V Missense 15/50 - 1
9-107591417-A-C c.1895T>G p.F632C Missense 15/50 - 1
9-107591428-C-T c.1893-9G>A - IntronicSNV - 14/49 1
9-107593182-A-C c.1892+24T>G - IntronicSNV - 14/49 3
9-107593182-A-T c.1892+24T>A - IntronicSNV - 14/49 3
9-107593206-A-C c.1892T>G p.I631S Missense 14/50 - 1
9-107593215-A-G c.1883T>C p.V628A Missense 14/50 - 1
9-107593216-C-T c.1882G>A p.V628I Missense 14/50 - 1
9-107593217-G-A c.1881C>T p.Y627= Synonymous 14/50 - 1
9-107593217-G-C c.1881C>G p.Y627* Nonsense 14/50 - 1
9-107593221-C-A c.1877G>T p.C626F Missense 14/50 - 1
9-107593222-A-T c.1876T>A p.C626S Missense 14/50 - 1
9-107593221-C-G c.1877G>C p.C626S Missense 14/50 - 1
9-107593229-G-A c.1869C>T p.P623= Synonymous 14/50 - 1
9-107593229-G-C c.1869C>G p.P623= Synonymous 14/50 - 1
9-107593229-G-T c.1869C>A p.P623= Synonymous 14/50 - 1
9-107593232-C-G c.1866G>C p.M622I Missense 14/50 - 1
9-107593232-C-T c.1866G>A p.M622I Missense 14/50 - 1
9-107593232-C-A c.1866G>T p.M622I Missense 14/50 - 1
9-107593233-A-G c.1865T>C p.M622T Missense 14/50 - 1
9-107593235-C-G c.1863G>C p.Q621H Missense 14/50 - 1
9-107593236-T-C c.1862A>G p.Q621R Missense 14/50 - 1
9-107593244-A-G c.1854T>C p.Y618= Synonymous 14/50 - 1
9-107593245-T-C c.1853A>G p.Y618C Missense 14/50 - 2
9-107593245-T-A c.1853A>T p.Y618F Missense 14/50 - 1
9-107593249-C-A c.1849G>T p.V617F Missense 14/50 - 1
9-107593251-C-A c.1847G>T p.G616V Missense 14/50 - 2
9-107593251-C-G c.1847G>C p.G616A Missense 14/50 - 1
9-107593255-T-G c.1843A>C p.T615P Missense 14/50 - 1
9-107593261-T-C c.1837A>G p.K613E Missense 14/50 - 1
9-107593264-C-G c.1834G>C p.E612Q Missense 14/50 - 1
9-107593264-C-T c.1834G>A p.E612K Missense 14/50 - 2
9-107593265-G-A c.1833C>T p.T611= Synonymous 14/50 - 1
9-107593266-G-A c.1832C>T p.T611I Missense 14/50 - 1
9-107593271-C-T c.1827G>A p.T609= Synonymous 14/50 - 1
9-107593272-G-A c.1826C>T p.T609M Missense 14/50 - 2
9-107593276-G-A c.1822C>T p.L608= Synonymous 14/50 - 1
9-107593277-C-G c.1821G>C p.V607= Synonymous 14/50 - 1
9-107593279-C-A c.1819G>T p.V607L Missense 14/50 - 1
9-107593283-G-C c.1815C>G p.I605M Missense 14/50 - 1
9-107593286-G-T c.1812C>A p.I604= Synonymous 14/50 - 1
9-107593286-G-A c.1812C>T p.I604= Synonymous 14/50 - 1
9-107593295-C-T c.1803G>A p.E601= Synonymous 14/50 - 1
9-107593296-T-A c.1802A>T p.E601V Missense 14/50 - 1
9-107593298-C-T c.1800G>A p.V600= Synonymous 14/50 - 1
9-107593299-A-T c.1799T>A p.V600E Missense 14/50 - 6
9-107593300-C-T c.1798G>A p.V600M Missense 14/50 - 1
9-107593304-A-C c.1794T>G p.D598E Missense 14/50 - 1
9-107593304-A-G c.1794T>C p.D598= Synonymous 14/50 - 1
9-107593308-T-A c.1790A>T p.Q597L Missense 14/50 - 2
9-107593308-T-C c.1790A>G p.Q597R Missense 14/50 - 14
9-107593309-G-A c.1789C>T p.Q597* Nonsense 14/50 - 1
9-107593313-G-A c.1785C>T p.Y595= Synonymous 14/50 - 1
9-107593317-G-A c.1781C>T p.A594V Missense 14/50 - 1
9-107593318-C-T c.1780G>A p.A594T Missense 14/50 - 2
9-107593319-G-A c.1779C>T p.F593= Synonymous 14/50 - 1
9-107593321-A-G c.1777T>C p.F593L Missense 14/50 - 2
9-107593319-G-T c.1779C>A p.F593L Missense 14/50 - 1
9-107593319-G-C c.1779C>G p.F593L Missense 14/50 - 1
9-107593324-C-A c.1774G>T p.G592C Missense 14/50 - 2
9-107593328-C-G c.1770G>C p.W590C Missense 14/50 - 2
9-107593328-C-A c.1770G>T p.W590C Missense 14/50 - 1
9-107593329-C-A c.1769G>T p.W590L Missense 14/50 - 6
9-107593329-C-G c.1769G>C p.W590S Missense 14/50 - 24
9-107593329-C-T c.1769G>A p.W590* Nonsense 14/50 - 2
9-107593328-C-T c.1770G>A p.W590* Nonsense 14/50 - 2
9-107593322-GC-G c.1775del p.G592Afs*17 Frameshift 14/50 - 1
9-107593333-C-T c.1765G>A p.V589I Missense 14/50 - 1
9-107593334-G-A c.1764C>T p.Y588= Synonymous 14/50 - 1
9-107593337-C-T c.1761G>A p.R587= Synonymous 14/50 - 1
9-107593338-C-G c.1760G>C p.R587P Missense 14/50 - 1
9-107593339-G-A c.1759C>T p.R587W Missense 14/50 - 9
9-107593339-G-GC c.1758dup p.R587Afs*43 Frameshift 14/50 - 1
9-107593343-G-T c.1755C>A p.D585E Missense 14/50 - 1
9-107593343-G-A c.1755C>T p.D585= Synonymous 14/50 - 1
9-107593350-A-G c.1748T>C p.F583S Missense 14/50 - 1
9-107593355-G-T c.1743C>A p.D581E Missense 14/50 - 1
9-107593361-T-A c.1737A>T p.R579= Synonymous 14/50 - 1
9-107593362-C-T c.1736G>A p.R579Q Missense 14/50 - 1
9-107593363-G-A c.1735C>T p.R579* Nonsense 14/50 - 1
9-107593369-C-A c.1729G>T p.G577C Missense 14/50 - 1
9-107593369-C-CAGGGAA c.1728_1729insTTCCCT p.P576_G577insFP InFrameInsertion 14/50 - 1
9-107593373-G-A c.1725C>T p.D575= Synonymous 14/50 - 1
9-107593379-G-T c.1719C>A p.Y573* Nonsense 14/50 - 1
9-107593379-G-C c.1719C>G p.Y573* Nonsense 14/50 - 1
9-107593382-C-T c.1716G>A p.G572= Synonymous 14/50 - 1
9-107593904-C-T c.1714G>A p.G572R Missense 13/50 - 1
9-107593908-C-T c.1710G>A p.K570= Synonymous 13/50 - 1
9-107593915-T-G c.1703A>C p.K568T Missense 13/50 - 1
9-107593919-T-A c.1699A>T p.N567Y Missense 13/50 - 1
9-107593920-T-A c.1698A>T p.T566= Synonymous 13/50 - 1
9-107593923-C-G c.1695G>C p.R565S Missense 13/50 - 1
9-107593933-T-C c.1685A>G p.N562S Missense 13/50 - 1
9-107593935-G-A c.1683C>T p.D561= Synonymous 13/50 - 1
9-107593937-C-T c.1681G>A p.D561N Missense 13/50 - 1
9-107593939-A-G c.1679T>C p.I560T Missense 13/50 - 1
9-107593946-T-C c.1672A>G p.M558V Missense 13/50 - 1
9-107593948-C-T c.1670G>A p.R557Q Missense 13/50 - 1
9-107593949-G-A c.1669C>T p.R557* Nonsense 13/50 - 1
9-107593956-G-A c.1662C>T p.Y554= Synonymous 13/50 - 1
9-107593959-C-T c.1659G>A p.K553= Synonymous 13/50 - 1
9-107593967-G-C c.1651C>G p.H551D Missense 13/50 - 1
9-107593969-T-A c.1649A>T p.H550L Missense 13/50 - 1
9-107593971-G-A c.1647C>T p.P549= Synonymous 13/50 - 1
9-107593981-A-G c.1637T>C p.I546T Missense 13/50 - 1
9-107593982-T-C c.1636A>G p.I546V Missense 13/50 - 1
9-107593983-G-A c.1635C>T p.S545= Synonymous 13/50 - 1
9-107593984-C-T c.1634G>A p.S545N Missense 13/50 - 1
9-107593981-A-ATGC c.1634_1636dup p.S545dup InFrameInsertion 13/50 - 1
9-107593986-G-A c.1632C>T p.G544= Synonymous 13/50 - 1
9-107593986-G-C c.1632C>G p.G544= Synonymous 13/50 - 1
9-107593986-G-T c.1632C>A p.G544= Synonymous 13/50 - 1
9-107593992-A-C c.1626T>G p.T542= Synonymous 13/50 - 1
9-107593994-T-C c.1624A>G p.T542A Missense 13/50 - 1
9-107593997-T-C c.1621A>G p.I541V Missense 13/50 - 1
9-107593998-T-G c.1620A>C p.G540= Synonymous 13/50 - 1
9-107594002-G-A c.1616C>T p.T539I Missense 13/50 - 1
9-107594002-G-C c.1616C>G p.T539S Missense 13/50 - 1
9-107594004-G-A c.1614C>T p.F538= Synonymous 13/50 - 1
9-107594013-A-C c.1605T>G p.G535= Synonymous 13/50 - 1
9-107594013-A-T c.1605T>A p.G535= Synonymous 13/50 - 1
9-107594013-A-G c.1605T>C p.G535= Synonymous 13/50 - 1
9-107594015-CAGCCCAGA-C c.1595_1602del p.F532Wfs*13 Frameshift 13/50 - 1
9-107594019-C-A c.1599G>T p.W533C Missense 13/50 - 1
9-107594019-C-G c.1599G>C p.W533C Missense 13/50 - 1
9-107594024-A-G c.1594T>C p.F532L Missense 13/50 - 1
9-107594022-G-T c.1596C>A p.F532L Missense 13/50 - 1
9-107594022-G-C c.1596C>G p.F532L Missense 13/50 - 1
9-107594025-C-G c.1593G>C p.K531N Missense 13/50 - 1
9-107594025-C-A c.1593G>T p.K531N Missense 13/50 - 1
9-107594033-C-G c.1585G>C p.E529Q Missense 13/50 - 1
9-107594047-A-G c.1571T>C p.M524T Missense 13/50 - 1
9-107594048-T-A c.1570A>T p.M524L Missense 13/50 - 1
9-107594048-T-C c.1570A>G p.M524V Missense 13/50 - 1
9-107594050-G-A c.1568C>T p.S523F Missense 13/50 - 1
9-107594052-C-G c.1566G>C p.K522N Missense 13/50 - 1
9-107594052-C-T c.1566G>A p.K522= Synonymous 13/50 - 1
9-107594058-G-C c.1560C>G p.I520M Missense 13/50 - 1
9-107594063-G-T c.1555C>A p.L519I Missense 13/50 - 1
9-107594064-C-A c.1554G>T p.W518C Missense 13/50 - 1
9-107594067-G-A c.1551C>T p.V517= Synonymous 13/50 - 1
9-107594069-C-A c.1549G>T p.V517F Missense 13/50 - 1
9-107594069-C-T c.1549G>A p.V517I Missense 13/50 - 1
9-107594073-T-C c.1545A>G p.T515= Synonymous 13/50 - 1
9-107594075-T-C c.1543A>G p.T515A Missense 13/50 - 1
9-107594078-C-A c.1540G>T p.A514S Missense 13/50 - 1
9-107594079-T-C c.1539A>G p.I513M Missense 13/50 - 1
9-107594080-A-T c.1538T>A p.I513K Missense 13/50 - 1
9-107594085-T-C c.1533A>G p.E511= Synonymous 13/50 - 1
9-107594088-T-C c.1530A>G p.L510= Synonymous 13/50 - 1
9-107594089-A-C c.1529T>G p.L510R Missense 13/50 - 1
9-107594092-T-A c.1526A>T p.K509M Missense 13/50 - 1
9-107594094-G-A c.1524C>T p.N508= Synonymous 13/50 - 1
9-107594095-T-C c.1523A>G p.N508S Missense 13/50 - 1
9-107594095-T-G c.1523A>C p.N508T Missense 13/50 - 1
9-107594099-G-A c.1519C>T p.L507= Synonymous 13/50 - 1
9-107594099-G-C c.1519C>G p.L507V Missense 13/50 - 1
9-107594100-G-A c.1518C>T p.N506= Synonymous 13/50 - 1
9-107594101-T-C c.1517A>G p.N506S Missense 13/50 - 1
9-107594104-A-G c.1514T>C p.V505A Missense 13/50 - 1
9-107594108-A-T c.1510T>A p.C504S Missense 13/50 - 1
9-107594107-C-G c.1511G>C p.C504S Missense 13/50 - 1
9-107594364-A-G c.1510-256T>C - IntronicSNV - 12/49 3
9-107594515-A-G c.1509+340T>C - IntronicSNV - 12/49 1
9-107594856-T-C c.1508A>G p.E503G Missense 12/50 - 1
9-107594856-T-G c.1508A>C p.E503A Missense 12/50 - 1
9-107594865-C-T c.1499G>A p.R500H Missense 12/50 - 1
9-107594866-G-A c.1498C>T p.R500C Missense 12/50 - 1
9-107594867-A-C c.1497T>G p.S499= Synonymous 12/50 - 1
9-107594877-C-A c.1487G>T p.R496L Missense 12/50 - 1
9-107594877-C-T c.1487G>A p.R496Q Missense 12/50 - 1
9-107594878-G-A c.1486C>T p.R496W Missense 12/50 - 2
9-107594884-C-A c.1480G>T p.A494S Missense 12/50 - 1
9-107594884-C-T c.1480G>A p.A494T Missense 12/50 - 1
9-107594892-G-C c.1472C>G p.T491S Missense 12/50 - 1
9-107594896-C-A c.1468G>T p.E490* Nonsense 12/50 - 1
9-107594896-C-T c.1468G>A p.E490K Missense 12/50 - 1
9-107594897-G-A c.1467C>T p.N489= Synonymous 12/50 - 1
9-107594899-T-A c.1465A>T p.N489Y Missense 12/50 - 1
9-107594900-G-C c.1464C>G p.F488L Missense 12/50 - 1
9-107594905-C-T c.1459G>A p.A487T Missense 12/50 - 1
9-107594908-C-T c.1456G>A p.E486K Missense 12/50 - 1
9-107594909-TCT-ATG c.1453_1455delinsCAT p.R485H Missense 12/50 - 1
9-107594910-C-T c.1454G>A p.R485K Missense 12/50 - 1
9-107594916-G-C c.1448C>G p.T483S Missense 12/50 - 1
9-107594916-G-T c.1448C>A p.T483N Missense 12/50 - 1
9-107594917-T-G c.1447A>C p.T483P Missense 12/50 - 1
9-107594918-G-A c.1446C>T p.Y482= Synonymous 12/50 - 1
9-107594921-C-T c.1443G>A p.V481= Synonymous 12/50 - 1
9-107594923-C-A c.1441G>T p.V481L Missense 12/50 - 1
9-107594924-A-G c.1440T>C p.S480= Synonymous 12/50 - 1
9-107594925-G-A c.1439C>T p.S480F Missense 12/50 - 1
9-107594929-C-G c.1435G>C p.G479R Missense 12/50 - 1
9-107594929-C-T c.1435G>A p.G479S Missense 12/50 - 1
9-107594930-A-G c.1434T>C p.N478= Synonymous 12/50 - 1
9-107594932-T-C c.1432A>G p.N478D Missense 12/50 - 1
9-107594933-ACT-TCA c.1429_1431delinsTGA p.S477* Nonsense 12/50 - 1
9-107594933-A-G c.1431T>C p.S477= Synonymous 12/50 - 1
9-107594935-T-C c.1429A>G p.S477G Missense 12/50 - 1
9-107594938-A-G c.1426T>C p.S476P Missense 12/50 - 1
9-107594940-T-C c.1424A>G p.Q475R Missense 12/50 - 1
9-107594947-C-T c.1417G>A p.D473N Missense 12/50 - 1
9-107594951-T-C c.1413A>G p.P471= Synonymous 12/50 - 1
9-107594953-G-A c.1411C>T p.P471S Missense 12/50 - 1
9-107594958-T-C c.1406A>G p.K469R Missense 12/50 - 1
9-107594958-T-G c.1406A>C p.K469T Missense 12/50 - 1
9-107594962-C-G c.1402G>C p.A468P Missense 12/50 - 1
9-107594966-A-C c.1398T>G p.F466L Missense 12/50 - 1
9-107594963-C-CA c.1400dup p.L467Ffs*12 Frameshift 12/50 - 1
9-107594969-C-T c.1395G>A p.A465= Synonymous 12/50 - 1
9-107594970-G-A c.1394C>T p.A465V Missense 12/50 - 1
9-107594971-C-A c.1393G>T p.A465S Missense 12/50 - 1
9-107594971-C-G c.1393G>C p.A465P Missense 12/50 - 2
9-107594974-C-A c.1390G>T p.V464L Missense 12/50 - 1
9-107594974-C-T c.1390G>A p.V464M Missense 12/50 - 1
9-107594975-G-A c.1389C>T p.I463= Synonymous 12/50 - 1
9-107594977-T-A c.1387A>T p.I463F Missense 12/50 - 1
9-107594978-G-C c.1386C>G p.D462E Missense 12/50 - 1
9-107594978-G-T c.1386C>A p.D462E Missense 12/50 - 1
9-107594979-T-C c.1385A>G p.D462G Missense 12/50 - 1
9-107594980-C-T c.1384G>A p.D462N Missense 12/50 - 1
9-107594984-G-T c.1380C>A p.A460= Synonymous 12/50 - 1
9-107594984-G-C c.1380C>G p.A460= Synonymous 12/50 - 1
9-107594984-G-A c.1380C>T p.A460= Synonymous 12/50 - 2
9-107594987-T-G c.1377A>C p.T459= Synonymous 12/50 - 1
9-107594989-T-C c.1375A>G p.T459A Missense 12/50 - 1
9-107594993-A-G c.1371T>C p.D457= Synonymous 12/50 - 1
9-107594993-A-T c.1371T>A p.D457E Missense 12/50 - 1
9-107594996-T-C c.1368A>G p.L456= Synonymous 12/50 - 1
9-107594996-T-G c.1368A>C p.L456F Missense 12/50 - 1
9-107594999-G-C c.1365C>G p.G455= Synonymous 12/50 - 1
9-107595001-C-T c.1363G>A p.G455S Missense 12/50 - 1
9-107595003-T-C c.1361A>G p.D454G Missense 12/50 - 1
9-107595004-C-T c.1360G>A p.D454N Missense 12/50 - 1
9-107595006-A-G c.1358T>C p.L453S Missense 12/50 - 1
9-107595011-C-T c.1353G>A p.Q451= Synonymous 12/50 - 1
9-107595013-G-A c.1351C>T p.Q451* Nonsense 12/50 - 1
9-107595013-G-C c.1351C>G p.Q451E Missense 12/50 - 1
9-107595020-A-G c.1344T>C p.F448= Synonymous 12/50 - 1
9-107595026-G-A c.1338C>T p.D446= Synonymous 12/50 - 1
9-107595026-G-C c.1338C>G p.D446E Missense 12/50 - 1
9-107595026-G-T c.1338C>A p.D446E Missense 12/50 - 1
9-107595031-T-C c.1333A>G p.N445D Missense 12/50 - 1
9-107595032-G-T c.1332C>A p.D444E Missense 12/50 - 1
9-107595033-T-G c.1331A>C p.D444A Missense 12/50 - 1
9-107595033-T-C c.1331A>G p.D444G Missense 12/50 - 1
9-107595036-C-T c.1328G>A p.R443K Missense 12/50 - 1
9-107595036-C-A c.1328G>T p.R443M Missense 12/50 - 1
9-107595038-G-A c.1326C>T p.S442= Synonymous 12/50 - 1
9-107595038-G-C c.1326C>G p.S442R Missense 12/50 - 1
9-107595041-G-A c.1323C>T p.D441= Synonymous 12/50 - 1
9-107595048-AG-GC c.1315_1316delinsGC p.L439A Missense 12/50 - 1
9-107595602-A-C c.1312-550T>G - IntronicSNV - 11/49 1
9-107598740-C-T c.1311+521G>A - IntronicSNV - 11/49 7
9-107598884-T-G c.1311+377A>C - IntronicSNV - 11/49 1
9-107599261-C-T c.1311G>A p.R437= Synonymous 11/50 - 1
9-107599263-G-A c.1309C>T p.R437W Missense 11/50 - 3
9-107599263-G-C c.1309C>G p.R437G Missense 11/50 - 1
9-107599270-G-A c.1302C>T p.D434= Synonymous 11/50 - 1
9-107599270-G-C c.1302C>G p.D434E Missense 11/50 - 1
9-107599270-G-T c.1302C>A p.D434E Missense 11/50 - 1
9-107599270-GTC-CCA c.1300_1302delinsTGG p.D434W Missense 11/50 - 1
9-107599271-T-A c.1301A>T p.D434V Missense 11/50 - 1
9-107599271-T-G c.1301A>C p.D434A Missense 11/50 - 3
9-107599271-TC-CT c.1300_1301delinsAG p.D434S Missense 11/50 - 2
9-107599272-C-T c.1300G>A p.D434N Missense 11/50 - 1
9-107599275-T-G c.1297A>C p.M433L Missense 11/50 - 1
9-107599275-T-A c.1297A>T p.M433L Missense 11/50 - 1
9-107599281-G-C c.1291C>G p.Q431E Missense 11/50 - 1
9-107599283-C-A c.1289G>T p.S430I Missense 11/50 - 1
9-107599291-C-T c.1281G>A p.M427I Missense 11/50 - 1
9-107599293-T-A c.1279A>T p.M427L Missense 11/50 - 1
9-107599296-A-G c.1276T>C p.F426L Missense 11/50 - 1
9-107599297-G-A c.1275C>T p.T425= Synonymous 11/50 - 1
9-107599304-A-G c.1268T>C p.I423T Missense 11/50 - 1
9-107599312-G-C c.1260C>G p.S420R Missense 11/50 - 1
9-107599312-G-T c.1260C>A p.S420R Missense 11/50 - 1
9-107599314-T-G c.1258A>C p.S420R Missense 11/50 - 1
9-107599314-T-C c.1258A>G p.S420G Missense 11/50 - 1
9-107599320-C-T c.1252G>A p.E418K Missense 11/50 - 2
9-107599325-C-T c.1247G>A p.W416* Nonsense 11/50 - 1
9-107599324-C-T c.1248G>A p.W416* Nonsense 11/50 - 2
9-107599342-A-G c.1230T>C p.H410= Synonymous 11/50 - 1
9-107599344-G-A c.1228C>T p.H410Y Missense 11/50 - 2
9-107599344-G-T c.1228C>A p.H410N Missense 11/50 - 1
9-107599350-C-T c.1222G>A p.V408M Missense 11/50 - 4
9-107599350-C-G c.1222G>C p.V408L Missense 11/50 - 1
9-107599352-G-T c.1220C>A p.A407D Missense 11/50 - 1
9-107599353-C-G c.1219G>C p.A407P Missense 11/50 - 1
9-107599366-G-C c.1206C>G p.T402= Synonymous 11/50 - 1
9-107599369-C-A c.1203G>T p.K401N Missense 11/50 - 1
9-107599371-T-G c.1201A>C p.K401Q Missense 11/50 - 1
9-107599376-A-G c.1196T>C p.V399A Missense 11/50 - 5
9-107599438-G-GC c.1195-62_1195-61insG - IntronicInsertion - 10/49 1
9-107599711-C-T c.1192G>A p.E398K Missense 10/50 - 1
9-107599712-A-G c.1191T>C p.A397= Synonymous 10/50 - 1
9-107599718-G-A c.1185C>T p.V395= Synonymous 10/50 - 1
9-107599726-T-G c.1177A>C p.R393= Synonymous 10/50 - 1
9-107599728-G-A c.1175C>T p.T392I Missense 10/50 - 1
9-107599732-C-A c.1171G>T p.A391S Missense 10/50 - 1
9-107599732-C-G c.1171G>C p.A391P Missense 10/50 - 1
9-107599734-G-A c.1169C>T p.P390L Missense 10/50 - 1
9-107599735-G-C c.1168C>G p.P390A Missense 10/50 - 1
9-107599737-G-A c.1166C>T p.T389I Missense 10/50 - 1
9-107599740-T-TTC c.1162_1163insGA p.D388Gfs*13 Frameshift 10/50 - 1
9-107599745-T-G c.1158A>C p.T386= Synonymous 10/50 - 1
9-107599753-G-A c.1150C>T p.L384= Synonymous 10/50 - 1
9-107599757-C-G c.1146G>C p.K382N Missense 10/50 - 1
9-107599757-C-A c.1146G>T p.K382N Missense 10/50 - 1
9-107599761-C-T c.1142G>A p.G381E Missense 10/50 - 1
9-107599762-C-A c.1141G>T p.G381W Missense 10/50 - 1
9-107599765-C-T c.1138G>A p.V380I Missense 10/50 - 1
9-107599766-G-A c.1137C>T p.L379= Synonymous 10/50 - 3
9-107599772-C-T c.1131G>A p.P377= Synonymous 10/50 - 1
9-107599773-G-A c.1130C>T p.P377L Missense 10/50 - 1
9-107599773-G-T c.1130C>A p.P377Q Missense 10/50 - 1
9-107599778-C-G c.1125G>C p.L375= Synonymous 10/50 - 1
9-107599778-C-A c.1125G>T p.L375= Synonymous 10/50 - 1
9-107599778-C-T c.1125G>A p.L375= Synonymous 10/50 - 1
9-107599780-G-A c.1123C>T p.L375= Synonymous 10/50 - 1
9-107599781-A-T c.1122T>A p.A374= Synonymous 10/50 - 1
9-107599782-G-A c.1121C>T p.A374V Missense 10/50 - 1
9-107599784-T-A c.1119A>T p.K373N Missense 10/50 - 1
9-107599789-A-G c.1114T>C p.W372R Missense 10/50 - 1
9-107599791-A-G c.1112T>C p.I371T Missense 10/50 - 1
9-107599793-A-G c.1110T>C p.I370= Synonymous 10/50 - 1
9-107599794-A-G c.1109T>C p.I370T Missense 10/50 - 1
9-107599797-C-A c.1106G>T p.R369L Missense 10/50 - 2
9-107599797-C-T c.1106G>A p.R369H Missense 10/50 - 3
9-107599799-G-A c.1104C>T p.S368= Synonymous 10/50 - 1
9-107599800-G-T c.1103C>A p.S368Y Missense 10/50 - 1
9-107599806-G-T c.1097C>A p.P366H Missense 10/50 - 1
9-107599810-T-A c.1093A>T p.S365C Missense 10/50 - 1
9-107599812-G-C c.1091C>G p.S364C Missense 10/50 - 2
9-107599814-C-T c.1089G>A p.E363= Synonymous 10/50 - 1
9-107599821-T-C c.1082A>G p.N361S Missense 10/50 - 1
9-107599823-C-T c.1080G>A p.K360= Synonymous 10/50 - 1
9-107599823-C-G c.1080G>C p.K360N Missense 10/50 - 1
9-107599823-C-A c.1080G>T p.K360N Missense 10/50 - 1
9-107599828-T-A c.1075A>T p.M359L Missense 10/50 - 1
9-107599829-C-T c.1074G>A p.L358= Synonymous 10/50 - 1
9-107599832-A-G c.1071T>C p.D357= Synonymous 10/50 - 1
9-107599835-A-G c.1068T>C p.N356= Synonymous 10/50 - 1
9-107599836-T-C c.1067A>G p.N356S Missense 10/50 - 1
9-107599840-A-T c.1063T>A p.C355S Missense 10/50 - 1
9-107599839-C-G c.1064G>C p.C355S Missense 10/50 - 1
9-107599841-G-A c.1062C>T p.Y354= Synonymous 10/50 - 1
9-107599843-A-G c.1060T>C p.Y354H Missense 10/50 - 1
9-107599848-G-T c.1055C>A p.T352N Missense 10/50 - 1
9-107600168-A-G c.1055-320T>C - IntronicSNV - 9/49 5
9-107600193-A-G c.1055-345T>C - IntronicSNV - 9/49 1
9-107600251-T-C c.1055-403A>G - IntronicSNV - 9/49 1
9-107601541-G-A c.1054+1019C>T - IntronicSNV - 9/49 6
9-107601801-C-A c.1054+759G>T - IntronicSNV - 9/49 1
9-107601801-C-T c.1054+759G>A - IntronicSNV - 9/49 1
9-107602554-A-G c.1054+6T>C - IntronicSNV - 9/49 1
9-107602565-G-A c.1049C>T p.S350F Missense 9/50 - 1
9-107602565-G-C c.1049C>G p.S350C Missense 9/50 - 1
9-107602569-T-C c.1045A>G p.N349D Missense 9/50 - 1
9-107602570-G-C c.1044C>G p.D348E Missense 9/50 - 1
9-107602574-T-C c.1040A>G p.Y347C Missense 9/50 - 1
9-107602575-A-G c.1039T>C p.Y347H Missense 9/50 - 1
9-107602576-G-C c.1038C>G p.F346L Missense 9/50 - 1
9-107602578-A-C c.1036T>G p.F346V Missense 9/50 - 1
9-107602585-A-G c.1029T>C p.A343= Synonymous 9/50 - 1
9-107602586-G-A c.1028C>T p.A343V Missense 9/50 - 1
9-107602586-G-C c.1028C>G p.A343G Missense 9/50 - 1
9-107602587-C-T c.1027G>A p.A343T Missense 9/50 - 1
9-107602587-C-A c.1027G>T p.A343S Missense 9/50 - 1
9-107602590-C-A c.1024G>T p.D342Y Missense 9/50 - 1
9-107602593-C-T c.1021G>A p.E341K Missense 9/50 - 1
9-107602600-G-A c.1014C>T p.G338= Synonymous 9/50 - 1
9-107602600-G-C c.1014C>G p.G338= Synonymous 9/50 - 1
9-107602600-G-T c.1014C>A p.G338= Synonymous 9/50 - 1
9-107602604-T-C c.1010A>G p.N337S Missense 9/50 - 1
9-107602606-G-C c.1008C>G p.G336= Synonymous 9/50 - 1
9-107602611-C-A c.1003G>T p.G335* Nonsense 9/50 - 1
9-107602613-AA-GC c.1000_1001delinsGC p.F334A Missense 9/50 - 2
9-107602621-T-A c.993A>T p.K331N Missense 9/50 - 1
9-107602623-T-C c.991A>G p.K331E Missense 9/50 - 1
9-107602626-A-G c.988T>C p.Y330H Missense 9/50 - 1
9-107602630-G-A c.984C>T p.N328= Synonymous 9/50 - 1
9-107602630-G-T c.984C>A p.N328K Missense 9/50 - 1
9-107602633-G-A c.981C>T p.D327= Synonymous 9/50 - 1
9-107602635-C-G c.979G>C p.D327H Missense 9/50 - 1
9-107602636-C-A c.978G>T p.E326D Missense 9/50 - 1
9-107602636-C-T c.978G>A p.E326= Synonymous 9/50 - 1
9-107602645-G-A c.969C>T p.N323= Synonymous 9/50 - 1
9-107602649-A-G c.965T>C p.L322P Missense 9/50 - 1
9-107602650-G-A c.964C>T p.L322F Missense 9/50 - 1
9-107602653-A-C c.961T>G p.S321A Missense 9/50 - 1
9-107602657-G-A c.957C>T p.I319= Synonymous 9/50 - 1
9-107602661-T-G c.953A>C p.K318T Missense 9/50 - 1
9-107602663-C-A c.951G>T p.L317= Synonymous 9/50 - 1
9-107602663-C-T c.951G>A p.L317= Synonymous 9/50 - 1
9-107602663-C-G c.951G>C p.L317= Synonymous 9/50 - 1
9-107602665-G-A c.949C>T p.L317= Synonymous 9/50 - 1
9-107602664-AG-TA c.949_950delinsTA p.L317* Nonsense 9/50 - 1
9-107602666-C-T c.948G>A p.G316= Synonymous 9/50 - 3
9-107602671-C-A c.943G>T p.G315W Missense 9/50 - 1
9-107602671-C-G c.943G>C p.G315R Missense 9/50 - 1
9-107602665-G-GC c.948dup p.L317Afs*10 Frameshift 9/50 - 2
9-107602676-T-A c.938A>T p.E313V Missense 9/50 - 1
9-107602677-C-T c.937G>A p.E313K Missense 9/50 - 1
9-107602678-G-A c.936C>T p.P312= Synonymous 9/50 - 9
9-107602678-G-T c.936C>A p.P312= Synonymous 9/50 - 6
9-107602680-G-A c.934C>T p.P312S Missense 9/50 - 1
9-107602683-G-A c.931C>T p.H311Y Missense 9/50 - 1
9-107602686-C-T c.928G>A p.G310R Missense 9/50 - 1
9-107602687-G-A c.927C>T p.C309= Synonymous 9/50 - 1
9-107602689-A-T c.925T>A p.C309S Missense 9/50 - 1
9-107602688-C-G c.926G>C p.C309S Missense 9/50 - 1
9-107602694-A-T c.920T>A p.I307N Missense 9/50 - 1
9-107602697-C-T c.917G>A p.R306H Missense 9/50 - 1
9-107602698-G-A c.916C>T p.R306C Missense 9/50 - 2
9-107602698-G-C c.916C>G p.R306G Missense 9/50 - 2
9-107602700-G-C c.914C>G p.S305C Missense 9/50 - 2
9-107602704-C-G c.910G>C p.V304L Missense 9/50 - 1
9-107602704-C-T c.910G>A p.V304M Missense 9/50 - 1
9-107602704-C-A c.910G>T p.V304L Missense 9/50 - 1
9-107602707-C-T c.907G>A p.A303T Missense 9/50 - 1
9-107602708-C-A c.906G>T p.Q302H Missense 9/50 - 1
9-107602710-G-C c.904C>G p.Q302E Missense 9/50 - 1
9-107602722-GT-G c.892del p.T298Pfs*20 Frameshift 9/50 - 1
9-107602728-A-T c.886T>A p.S296T Missense 9/50 - 1
9-107602732-G-A c.882C>T p.S294= Synonymous 9/50 - 1
9-107602733-G-T c.881C>A p.S294Y Missense 9/50 - 1
9-107602736-C-A c.878G>T p.S293I Missense 9/50 - 1
9-107602739-T-G c.875A>C p.N292T Missense 9/50 - 1
9-107602744-A-G c.870T>C p.N290= Synonymous 9/50 - 1
9-107602745-T-C c.869A>G p.N290S Missense 9/50 - 1
9-107602747-G-C c.867C>G p.T289= Synonymous 9/50 - 1
9-107602756-C-T c.858G>A p.M286I Missense 9/50 - 1
9-107602759-C-T c.855G>A p.V285= Synonymous 9/50 - 1
9-107602759-C-G c.855G>C p.V285= Synonymous 9/50 - 1
9-107602759-C-A c.855G>T p.V285= Synonymous 9/50 - 1
9-107602761-C-T c.853G>A p.V285M Missense 9/50 - 1
9-107602765-C-T c.849G>A p.Q283= Synonymous 9/50 - 1
9-107602767-G-T c.847C>A p.Q283K Missense 9/50 - 1
9-107602768-T-A c.846A>T p.R282= Synonymous 9/50 - 1
9-107602769-C-T c.845G>A p.R282Q Missense 9/50 - 1
9-107602770-G-A c.844C>T p.R282* Nonsense 9/50 - 2
9-107602772-A-G c.842T>C p.M281T Missense 9/50 - 1
9-107602773-T-C c.841A>G p.M281V Missense 9/50 - 1
9-107602776-C-T c.838G>A p.D280N Missense 9/50 - 1
9-107602790-A-G c.824T>C p.M275T Missense 9/50 - 1
9-107602793-C-T c.821G>A p.S274N Missense 9/50 - 1
9-107602794-T-G c.820A>C p.S274R Missense 9/50 - 1
9-107602797-A-G c.817T>C p.F273L Missense 9/50 - 2
9-107602797-ACAGCTGGCGTCAGGGATGGGGACAGAAAGGAGGGTAGGGGAAGGGAGAAAAGGGCAGTG-A c.814-56_816del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 9/50 8/49 1
9-107602800-G-C c.814C>G p.L272V Missense 9/50 - 1
9-107604104-A-G c.814-1304T>C - IntronicSNV - 8/49 5
9-107604197-G-T c.814-1397C>A - IntronicSNV - 8/49 3
9-107604507-C-T c.814-1707G>A - IntronicSNV - 8/49 1
9-107604722-A-C c.814-1922T>G - IntronicSNV - 8/49 1
9-107605638-G-T c.813+2120C>A - IntronicSNV - 8/49 1
9-107606009-G-C c.813+1749C>G - IntronicSNV - 8/49 1
9-107606383-C-T c.813+1375G>A - IntronicSNV - 8/49 1
9-107606447-G-A c.813+1311C>T - IntronicSNV - 8/49 1
9-107606447-G-C c.813+1311C>G - IntronicSNV - 8/49 1
9-107606514-G-A c.813+1244C>T - IntronicSNV - 8/49 1
9-107606514-G-C c.813+1244C>G - IntronicSNV - 8/49 1
9-107606514-G-T c.813+1244C>A - IntronicSNV - 8/49 1
9-107607760-C-A c.811G>T p.E271* Nonsense 8/50 - 2
9-107607760-C-T c.811G>A p.E271K Missense 8/50 - 1
9-107607762-T-C c.809A>G p.Q270R Missense 8/50 - 1
9-107607763-G-C c.808C>G p.Q270E Missense 8/50 - 1
9-107607769-G-A c.802C>T p.L268= Synonymous 8/50 - 1
9-107607771-G-A c.800C>T p.T267I Missense 8/50 - 1
9-107607773-C-A c.798G>T p.G266= Synonymous 8/50 - 1
9-107607773-C-T c.798G>A p.G266= Synonymous 8/50 - 1
9-107607778-G-A c.793C>T p.L265F Missense 8/50 - 1
9-107607778-G-C c.793C>G p.L265V Missense 8/50 - 2
9-107607779-A-C c.792T>G p.S264R Missense 8/50 - 1
9-107607780-C-A c.791G>T p.S264I Missense 8/50 - 1
9-107607780-CT-GC c.790_791delinsGC p.S264A Missense 8/50 - 1
9-107607781-T-C c.790A>G p.S264G Missense 8/50 - 1
9-107607782-A-G c.789T>C p.H263= Synonymous 8/50 - 1
9-107607783-T-C c.788A>G p.H263R Missense 8/50 - 1
9-107607784-G-C c.787C>G p.H263D Missense 8/50 - 2
9-107607784-G-A c.787C>T p.H263Y Missense 8/50 - 2
9-107607789-AA-GC c.781_782delinsGC p.L261A Missense 8/50 - 2
9-107607791-T-C c.780A>G p.T260= Synonymous 8/50 - 1
9-107607793-T-C c.778A>G p.T260A Missense 8/50 - 1
9-107607793-T-G c.778A>C p.T260P Missense 8/50 - 1
9-107607799-T-C c.772A>G p.T258A Missense 8/50 - 1
9-107607805-C-T c.766G>A p.E256K Missense 8/50 - 1
9-107607807-G-T c.764C>A p.A255D Missense 8/50 - 1
9-107607808-C-T c.763G>A p.A255T Missense 8/50 - 1
9-107607809-C-A c.762G>T p.L254= Synonymous 8/50 - 1
9-107607811-G-C c.760C>G p.L254V Missense 8/50 - 1
9-107607813-T-G c.758A>C p.E253A Missense 8/50 - 1
9-107607814-C-A c.757G>T p.E253* Nonsense 8/50 - 1
9-107607816-TT-GC c.754_755delinsGC p.K252A Missense 8/50 - 2
9-107607822-G-A c.749C>T p.P250L Missense 8/50 - 1
9-107607824-G-A c.747C>T p.F249= Synonymous 8/50 - 1
9-107607828-G-A c.743C>T p.P248L Missense 8/50 - 2
9-107607828-G-T c.743C>A p.P248H Missense 8/50 - 1
9-107607829-G-C c.742C>G p.P248A Missense 8/50 - 1
9-107607834-G-A c.737C>T p.T246I Missense 8/50 - 1
9-107607837-G-A c.734C>T p.S245F Missense 8/50 - 1
9-107607839-G-T c.732C>A p.N244K Missense 8/50 - 1
9-107607845-TGT-ACA c.724_726inv p.T242C Missense 8/50 - 1
9-107607846-G-C c.725C>G p.T242R Missense 8/50 - 1
9-107607847-T-C c.724A>G p.T242A Missense 8/50 - 1
9-107611337-G-T c.721-3487C>A - IntronicSNV - 7/49 1
9-107611827-T-C c.721-3977A>G - IntronicSNV - 7/49 1
9-107613849-T-A c.721-5999A>T - IntronicSNV - 7/49 1
9-107617337-C-T c.720+3466G>A - IntronicSNV - 7/49 1
9-107617433-C-T c.720+3370G>A - IntronicSNV - 7/49 1
9-107618681-T-A c.720+2122A>T - IntronicSNV - 7/49 2
9-107618681-T-C c.720+2122A>G - IntronicSNV - 7/49 2
9-107619063-G-A c.720+1740C>T - IntronicSNV - 7/49 2
9-107620332-G-A c.720+471C>T - IntronicSNV - 7/49 1
9-107620797-A-G c.720+6T>C - IntronicSNV - 7/49 2
9-107620801-A-G c.720+2T>C - IntronicSNV - 7/49 1
9-107620803-CAG-ACA c.718_720delinsTGT p.L240C Missense 7/50 - 1
9-107620803-C-G c.720G>C p.L240= Synonymous 7/50 - 1
9-107620806-G-A c.717C>T p.I239= Synonymous 7/50 - 1
9-107620808-T-C c.715A>G p.I239V Missense 7/50 - 2
9-107620814-T-C c.709A>G p.K237E Missense 7/50 - 1
9-107620815-C-A c.708G>T p.L236= Synonymous 7/50 - 1
9-107620815-C-T c.708G>A p.L236= Synonymous 7/50 - 1
9-107620816-A-C c.707T>G p.L236R Missense 7/50 - 1
9-107620823-C-G c.700G>C p.D234H Missense 7/50 - 1
9-107620831-G-C c.692C>G p.S231C Missense 7/50 - 2
9-107620833-A-T c.690T>A p.R230= Synonymous 7/50 - 2
9-107620833-A-G c.690T>C p.R230= Synonymous 7/50 - 2
9-107620833-A-C c.690T>G p.R230= Synonymous 7/50 - 2
9-107620834-C-G c.689G>C p.R230P Missense 7/50 - 1
9-107620834-C-T c.689G>A p.R230H Missense 7/50 - 1
9-107620835-G-A c.688C>T p.R230C Missense 7/50 - 76
9-107620838-G-A c.685C>T p.L229F Missense 7/50 - 1
9-107620844-G-A c.679C>T p.R227* Nonsense 7/50 - 2
9-107620844-G-C c.679C>G p.R227G Missense 7/50 - 1
9-107620845-C-T c.678G>A p.E226= Synonymous 7/50 - 1
9-107620846-T-C c.677A>G p.E226G Missense 7/50 - 1
9-107620850-C-T c.673G>A p.A225T Missense 7/50 - 1
9-107620852-G-A c.671C>T p.A224V Missense 7/50 - 1
9-107620856-C-T c.667G>A p.A223T Missense 7/50 - 1
9-107620857-C-T c.666G>A p.L222= Synonymous 7/50 - 1
9-107620858-AG-TT c.664_665delinsAA p.L222K Missense 7/50 - 1
9-107620859-G-A c.664C>T p.L222= Synonymous 7/50 - 1
9-107620859-G-C c.664C>G p.L222V Missense 7/50 - 1
9-107620866-C-T c.657G>A p.R219= Synonymous 7/50 - 1
9-107620867-C-T c.656G>A p.R219K Missense 7/50 - 124
9-107620868-T-G c.655A>C p.R219= Synonymous 7/50 - 1
9-107620868-T-C c.655A>G p.R219G Missense 7/50 - 1
9-107620870-G-A c.653C>T p.P218L Missense 7/50 - 1
9-107620871-G-A c.652C>T p.P218S Missense 7/50 - 1
9-107620872-T-C c.651A>G p.L217= Synonymous 7/50 - 1
9-107620876-C-T c.647G>A p.G216D Missense 7/50 - 1
9-107620877-C-T c.646G>A p.G216S Missense 7/50 - 1
9-107620878-A-GCTC c.645delinsGAGC p.C215delinsWS MultiAAMissense 7/50 - 1
9-107620879-C-T c.644G>A p.C215Y Missense 7/50 - 1
9-107620880-A-T c.643T>A p.C215S Missense 7/50 - 1
9-107620879-C-G c.644G>C p.C215S Missense 7/50 - 1
9-107620881-A-C c.642T>G p.L214= Synonymous 7/50 - 1
9-107620881-A-T c.642T>A p.L214= Synonymous 7/50 - 1
9-107620881-A-G c.642T>C p.L214= Synonymous 7/50 - 1
9-107620881-AAG-CTC c.640_642delinsGAG p.L214E Missense 7/50 - 1
9-107620882-A-T c.641T>A p.L214H Missense 7/50 - 1
9-107620889-A-T c.634T>A p.S212T Missense 7/50 - 1
9-107620889-A-G c.634T>C p.S212P Missense 7/50 - 1
9-107620893-T-C c.630A>G p.E210= Synonymous 7/50 - 1
9-107620893-T-G c.630A>C p.E210D Missense 7/50 - 1
9-107620893-T-A c.630A>T p.E210D Missense 7/50 - 1
9-107620898-G-C c.625C>G p.Q209E Missense 7/50 - 1
9-107620901-C-T c.622G>A p.D208N Missense 7/50 - 1
9-107620903-C-T c.620G>A p.G207D Missense 7/50 - 1
9-107620908-T-C c.615A>G p.Q205= Synonymous 7/50 - 1
9-107620910-G-C c.613C>G p.Q205E Missense 7/50 - 1
9-107620910-G-T c.613C>A p.Q205K Missense 7/50 - 1
9-107620915-A-C c.608T>G p.M203R Missense 7/50 - 1
9-107620916-T-C c.607A>G p.M203V Missense 7/50 - 1
9-107620923-T-A c.600A>T p.S200= Synonymous 7/50 - 1
9-107620923-T-C c.600A>G p.S200= Synonymous 7/50 - 1
9-107620923-T-G c.600A>C p.S200= Synonymous 7/50 - 1
9-107620925-A-C c.598T>G p.S200A Missense 7/50 - 1
9-107620926-T-G c.597A>C p.K199N Missense 7/50 - 1
9-107620926-T-A c.597A>T p.K199N Missense 7/50 - 1
9-107620931-A-T c.592T>A p.S198T Missense 7/50 - 1
9-107620931-A-C c.592T>G p.S198A Missense 7/50 - 2
9-107620936-T-C c.587A>G p.N196S Missense 7/50 - 1
9-107620940-A-T c.583T>A p.C195S Missense 7/50 - 1
9-107620939-C-G c.584G>C p.C195S Missense 7/50 - 1
9-107620943-G-A c.580C>T p.L194= Synonymous 7/50 - 1
9-107620945-C-T c.578G>A p.S193N Missense 7/50 - 1
9-107620948-G-C c.575C>G p.T192R Missense 7/50 - 1
9-107620955-G-A c.568C>T p.H190Y Missense 7/50 - 1
9-107620955-G-T c.568C>A p.H190N Missense 7/50 - 1
9-107620961-G-A c.562C>T p.Q188* Nonsense 7/50 - 1
9-107620961-G-T c.562C>A p.Q188K Missense 7/50 - 1
9-107620962-G-A c.561C>T p.Y187= Synonymous 7/50 - 1
9-107620962-G-C c.561C>G p.Y187* Nonsense 7/50 - 1
9-107620963-T-C c.560A>G p.Y187C Missense 7/50 - 1
9-107620964-A-T c.559T>A p.Y187N Missense 7/50 - 1
9-107620971-C-T c.552G>A p.L184= Synonymous 7/50 - 1
9-107620972-A-C c.551T>G p.L184W Missense 7/50 - 1
9-107620972-A-G c.551T>C p.L184S Missense 7/50 - 1
9-107620973-A-G c.550T>C p.L184= Synonymous 7/50 - 1
9-107620979-C-T c.544G>A p.V182I Missense 7/50 - 1
9-107623326-C-T c.543+634G>A - IntronicSNV - 6/49 1
9-107623626-C-T c.543+334G>A - IntronicSNV - 6/49 1
9-107623960-C-T c.543G>A p.K181= Synonymous 6/50 - 1
9-107623964-T-C c.539A>G p.H180R Missense 6/50 - 1
9-107623964-T-G c.539A>C p.H180P Missense 6/50 - 1
9-107623965-G-A c.538C>T p.H180Y Missense 6/50 - 1
9-107623966-G-C c.537C>G p.L179= Synonymous 6/50 - 1
9-107623967-A-C c.536T>G p.L179R Missense 6/50 - 1
9-107623967-A-G c.536T>C p.L179P Missense 6/50 - 1
9-107623970-A-G c.533T>C p.I178T Missense 6/50 - 1
9-107623974-C-T c.529G>A p.V177I Missense 6/50 - 1
9-107623975-A-T c.528T>A p.D176E Missense 6/50 - 1
9-107623977-C-T c.526G>A p.D176N Missense 6/50 - 1
9-107623978-A-T c.525T>A p.A175= Synonymous 6/50 - 1
9-107623978-A-G c.525T>C p.A175= Synonymous 6/50 - 1
9-107623978-A-C c.525T>G p.A175= Synonymous 6/50 - 1
9-107623979-G-C c.524C>G p.A175G Missense 6/50 - 1
9-107623980-C-G c.523G>C p.A175P Missense 6/50 - 1
9-107623983-T-C c.520A>G p.R174G Missense 6/50 - 1
9-107623985-A-G c.518T>C p.L173P Missense 6/50 - 1
9-107623992-T-A c.511A>T p.K171* Nonsense 6/50 - 1
9-107623994-T-C c.509A>G p.D170G Missense 6/50 - 1
9-107623995-C-A c.508G>T p.D170Y Missense 6/50 - 1
9-107624000-G-A c.503C>T p.T168I Missense 6/50 - 1
9-107624001-T-C c.502A>G p.T168A Missense 6/50 - 1
9-107624003-G-A c.500C>T p.S167F Missense 6/50 - 1
9-107624004-A-C c.499T>G p.S167A Missense 6/50 - 1
9-107624006-T-C c.497A>G p.K166R Missense 6/50 - 1
9-107624009-G-C c.494C>G p.P165R Missense 6/50 - 2
9-107624010-G-A c.493C>T p.P165S Missense 6/50 - 2
9-107624010-G-C c.493C>G p.P165A Missense 6/50 - 1
9-107624012-GA-G c.491del p.L164Pfs*10 Frameshift 6/50 - 1
9-107624014-A-G c.489T>C p.S163= Synonymous 6/50 - 1
9-107624015-G-C c.488C>G p.S163C Missense 6/50 - 1
9-107624016-A-G c.487T>C p.S163P Missense 6/50 - 1
9-107624019-G-A c.484C>T p.L162F Missense 6/50 - 1
9-107624020-G-A c.483C>T p.N161= Synonymous 6/50 - 1
9-107624027-T-C c.476A>G p.Y159C Missense 6/50 - 1
9-107624028-A-G c.475T>C p.Y159H Missense 6/50 - 1
9-107624029-C-T c.474G>A p.L158= Synonymous 6/50 - 12
9-107624029-C-G c.474G>C p.L158= Synonymous 6/50 - 13
9-107624032-G-C c.471C>G p.F157L Missense 6/50 - 1
9-107624034-A-G c.469T>C p.F157L Missense 6/50 - 1
9-107624036-C-A c.467G>T p.G156V Missense 6/50 - 1
9-107624036-C-T c.467G>A p.G156E Missense 6/50 - 1
9-107624041-G-A c.462C>T p.F154= Synonymous 6/50 - 1
9-107624039-GAGA-G c.461_463del p.F154del InFrameDeletion 6/50 - 1
9-107624043-A-C c.460T>G p.F154V Missense 6/50 - 1
9-107624045-G-A c.458C>T p.T153I Missense 6/50 - 1
9-107624048-T-C c.455A>G p.E152G Missense 6/50 - 1
9-107624048-T-G c.455A>C p.E152A Missense 6/50 - 1
9-107624049-C-A c.454G>T p.E152* Nonsense 6/50 - 1
9-107624055-C-T c.448G>A p.D150N Missense 6/50 - 1
9-107624067-C-T c.436G>A p.D146N Missense 6/50 - 1
9-107624069-T-A c.434A>T p.Q145L Missense 6/50 - 1
9-107624069-T-G c.434A>C p.Q145P Missense 6/50 - 1
9-107624071-A-T c.432T>A p.L144= Synonymous 6/50 - 2
9-107624071-A-C c.432T>G p.L144= Synonymous 6/50 - 1
9-107624071-A-G c.432T>C p.L144= Synonymous 6/50 - 1
9-107624072-A-C c.431T>G p.L144R Missense 6/50 - 2
9-107624072-A-G c.431T>C p.L144P Missense 6/50 - 1
9-107624075-TT-GC c.427_428delinsGC p.K143A Missense 6/50 - 2
9-107624077-C-A c.426G>T p.L142F Missense 6/50 - 1
9-107624080-G-A c.423C>T p.N141= Synonymous 6/50 - 1
9-107624081-T-C c.422A>G p.N141S Missense 6/50 - 1
9-107624085-T-C c.422-4A>G - IntronicSNV - 5/49 1
9-107624242-A-G c.422-161T>C - IntronicSNV - 5/49 7
9-107624383-T-C c.422-302A>G - IntronicSNV - 5/49 1
9-107626189-G-A c.422-2108C>T - IntronicSNV - 5/49 1
9-107626189-G-T c.422-2108C>A - IntronicSNV - 5/49 1
9-107626389-C-T c.422-2308G>A - IntronicSNV - 5/49 1
9-107629104-T-C c.422-5023A>G - IntronicSNV - 5/49 2
9-107633725-A-C c.422-9644T>G - IntronicSNV - 5/49 5
9-107635869-C-G c.421+9451G>C - IntronicSNV - 5/49 6
9-107635869-C-T c.421+9451G>A - IntronicSNV - 5/49 6
9-107637306-A-G c.421+8014T>C - IntronicSNV - 5/49 1
9-107639414-G-A c.421+5906C>T - IntronicSNV - 5/49 5
9-107642287-C-G c.421+3033G>C - IntronicSNV - 5/49 6
9-107642287-C-T c.421+3033G>A - IntronicSNV - 5/49 6
9-107643810-T-A c.421+1510A>T - IntronicSNV - 5/49 1
9-107643810-T-C c.421+1510A>G - IntronicSNV - 5/49 1
9-107644287-G-A c.421+1033C>T - IntronicSNV - 5/49 1
9-107644830-C-T c.421+490G>A - IntronicSNV - 5/49 2
9-107645080-C-T c.421+240G>A - IntronicSNV - 5/49 5
9-107645329-A-G c.412T>C p.S138P Missense 5/50 - 2
9-107645332-T-C c.409A>G p.K137E Missense 5/50 - 1
9-107645333-C-G c.408G>C p.K136N Missense 5/50 - 1
9-107645333-C-A c.408G>T p.K136N Missense 5/50 - 1
9-107645339-C-T c.402G>A p.Q134= Synonymous 5/50 - 1
9-107645341-G-C c.400C>G p.Q134E Missense 5/50 - 1
9-107645343-T-C c.398A>G p.Q133R Missense 5/50 - 1
9-107645343-T-G c.398A>C p.Q133P Missense 5/50 - 1
9-107645344-G-A c.397C>T p.Q133* Nonsense 5/50 - 1
9-107645344-G-GT c.396dup p.Q133Tfs*20 Frameshift 5/50 - 1
9-107645350-T-A c.391A>T p.T131S Missense 5/50 - 1
9-107645350-T-C c.391A>G p.T131A Missense 5/50 - 1
9-107645351-TCT-ACA c.388_390delinsTGT p.R130C Missense 5/50 - 1
9-107645352-C-A c.389G>T p.R130I Missense 5/50 - 1
9-107645352-C-T c.389G>A p.R130K Missense 5/50 - 1
9-107645353-T-C c.388A>G p.R130G Missense 5/50 - 1
9-107645361-T-C c.380A>G p.K127R Missense 5/50 - 1
9-107645361-T-G c.380A>C p.K127T Missense 5/50 - 1
9-107645364-C-T c.377G>A p.R126H Missense 5/50 - 2
9-107645364-C-A c.377G>T p.R126L Missense 5/50 - 1
9-107645365-G-A c.376C>T p.R126C Missense 5/50 - 2
9-107645368-T-C c.373A>G p.M125V Missense 5/50 - 1
9-107645370-T-C c.371A>G p.D124G Missense 5/50 - 1
9-107645371-C-T c.370G>A p.D124N Missense 5/50 - 2
9-107645372-C-T c.369G>A p.K123= Synonymous 5/50 - 1
9-107645381-G-A c.360C>T p.T120= Synonymous 5/50 - 2
9-107645381-G-C c.360C>G p.T120= Synonymous 5/50 - 1
9-107645384-G-A c.357C>T p.D119= Synonymous 5/50 - 1
9-107645384-G-T c.357C>A p.D119E Missense 5/50 - 1
9-107645386-C-A c.355G>T p.D119Y Missense 5/50 - 1
9-107645388-TT-GC c.352_353delinsGC p.K118A Missense 5/50 - 1
9-107645389-T-C c.352A>G p.K118E Missense 5/50 - 1
9-107645396-G-A c.345C>T p.Y115= Synonymous 5/50 - 1
9-107645405-A-C c.336T>G p.L112= Synonymous 5/50 - 1
9-107645408-C-A c.333G>T p.R111S Missense 5/50 - 1
9-107645408-C-G c.333G>C p.R111S Missense 5/50 - 1
9-107645408-C-T c.333G>A p.R111= Synonymous 5/50 - 1
9-107645412-C-T c.329G>A p.R110Q Missense 5/50 - 1
9-107645413-G-A c.328C>T p.R110W Missense 5/50 - 1
9-107645422-A-C c.319T>G p.S107A Missense 5/50 - 1
9-107645423-G-C c.318C>G p.F106L Missense 5/50 - 1
9-107645425-A-G c.316T>C p.F106L Missense 5/50 - 1
9-107645425-A-T c.316T>A p.F106I Missense 5/50 - 1
9-107645430-C-G c.311G>C p.R104P Missense 5/50 - 1
9-107645430-C-T c.311G>A p.R104H Missense 5/50 - 1
9-107645431-G-A c.310C>T p.R104C Missense 5/50 - 1
9-107645435-C-G c.306G>C p.V102= Synonymous 5/50 - 1
9-107645435-C-T c.306G>A p.V102= Synonymous 5/50 - 1
9-107645435-C-A c.306G>T p.V102= Synonymous 5/50 - 1
9-107645437-C-T c.304G>A p.V102M Missense 5/50 - 1
9-107645477-G-C c.303-39C>G - IntronicSNV - 4/49 6
9-107645477-G-T c.303-39C>A - IntronicSNV - 4/49 6
9-107646260-T-C c.302+448A>G - IntronicSNV - 4/49 1
9-107646289-C-G c.302+419G>C - IntronicSNV - 4/49 1
9-107646289-C-T c.302+419G>A - IntronicSNV - 4/49 1
9-107646708-A-G c.302T>C p.I101T Missense 4/50 - 1
9-107646710-TGGATTTGTTAAAGTTTCCAACAACTCCGGGAGCCTCCCCAGGAGTCGGGTAACGGAAAC-T c.242_300del p.C81Yfs*52 SpliceDonorDeletion 4/50 - 1
9-107646711-GA-CC c.298_299delinsGG p.S100G Missense 4/50 - 1
9-107646711-G-A c.299C>T p.S100F Missense 4/50 - 1
9-107646711-G-C c.299C>G p.S100C Missense 4/50 - 2
9-107646712-A-C c.298T>G p.S100A Missense 4/50 - 3
9-107646712-A-G c.298T>C p.S100P Missense 4/50 - 2
9-107646715-T-C c.295A>G p.K99E Missense 4/50 - 1
9-107646717-T-C c.293A>G p.N98S Missense 4/50 - 1
9-107646719-A-G c.291T>C p.F97= Synonymous 4/50 - 1
9-107646720-A-C c.290T>G p.F97C Missense 4/50 - 1
9-107646728-AAC-CAT c.280_282delinsATG p.V94M Missense 4/50 - 1
9-107646732-AC-CA c.277_278delinsTG p.V93C Missense 4/50 - 1
9-107646733-C-A c.277G>T p.V93F Missense 4/50 - 1
9-107646735-C-T c.275G>A p.G92E Missense 4/50 - 1
9-107646736-C-T c.274G>A p.G92R Missense 4/50 - 1
9-107646737-G-A c.273C>T p.P91= Synonymous 4/50 - 1
9-107646739-G-A c.271C>T p.P91S Missense 4/50 - 1
9-107646742-C-T c.268G>A p.A90T Missense 4/50 - 1
9-107646745-C-T c.265G>A p.E89K Missense 4/50 - 3
9-107646746-C-T c.264G>A p.G88= Synonymous 4/50 - 1
9-107646746-C-G c.264G>C p.G88= Synonymous 4/50 - 1
9-107646749-A-G c.261T>C p.P87= Synonymous 4/50 - 1
9-107646755-C-T c.255G>A p.P85= Synonymous 4/50 - 1
9-107646755-C-A c.255G>T p.P85= Synonymous 4/50 - 1
9-107646755-C-G c.255G>C p.P85= Synonymous 4/50 - 1
9-107646756-G-A c.254C>T p.P85L Missense 4/50 - 7
9-107646760-A-G c.250T>C p.Y84H Missense 4/50 - 1
9-107646762-C-T c.248G>A p.R83H Missense 4/50 - 1
9-107646763-G-A c.247C>T p.R83C Missense 4/50 - 1
9-107646763-G-T c.247C>A p.R83S Missense 4/50 - 2
9-107646764-G-A c.246C>T p.F82= Synonymous 4/50 - 2
9-107646767-A-G c.243T>C p.C81= Synonymous 4/50 - 1
9-107646769-A-T c.241T>A p.C81S Missense 4/50 - 1
9-107646768-C-G c.242G>C p.C81S Missense 4/50 - 1
9-107646770-G-A c.240C>T p.P80= Synonymous 4/50 - 1
9-107646770-G-C c.240C>G p.P80= Synonymous 4/50 - 1
9-107646770-G-T c.240C>A p.P80= Synonymous 4/50 - 1
9-107646785-A-G c.225T>C p.C75= Synonymous 4/50 - 1
9-107646786-CA-GC c.223_224delinsGC p.C75A Missense 4/50 - 1
9-107646787-A-C c.223T>G p.C75G Missense 4/50 - 2
9-107646787-A-T c.223T>A p.C75S Missense 4/50 - 1
9-107646786-C-G c.224G>C p.C75S Missense 4/50 - 1
9-107646788-G-A c.222C>T p.I74= Synonymous 4/50 - 1
9-107646792-A-G c.218T>C p.I73T Missense 4/50 - 1
9-107646793-T-C c.217A>G p.I73V Missense 4/50 - 1
9-107646794-C-T c.216G>A p.G72= Synonymous 4/50 - 1
9-107646796-C-A c.214G>T p.G72W Missense 4/50 - 1
9-107646797-C-G c.213G>C p.Q71H Missense 4/50 - 1
9-107646800-A-T c.210T>A p.V70= Synonymous 4/50 - 1
9-107646800-A-G c.210T>C p.V70= Synonymous 4/50 - 1
9-107646800-A-C c.210T>G p.V70= Synonymous 4/50 - 1
9-107646802-C-T c.208G>A p.V70I Missense 4/50 - 1
9-107646803-C-T c.207G>A p.W69* Nonsense 4/50 - 1
9-107646805-A-C c.205T>G p.W69G Missense 4/50 - 1
9-107646807-G-A c.203C>T p.P68L Missense 4/50 - 1
9-107646810-A-G c.200T>C p.L67P Missense 4/50 - 1
9-107646812-T-C c.198A>G p.T66= Synonymous 4/50 - 1
9-107646816-C-G c.194G>C p.G65A Missense 4/50 - 1
9-107646817-C-T c.193G>A p.G65R Missense 4/50 - 1
9-107646817-C-G c.193G>C p.G65R Missense 4/50 - 1
9-107646818-T-G c.192A>C p.A64= Synonymous 4/50 - 1
9-107646818-T-C c.192A>G p.A64= Synonymous 4/50 - 1
9-107646818-T-A c.192A>T p.A64= Synonymous 4/50 - 1
9-107646825-G-A c.185C>T p.P62L Missense 4/50 - 1
9-107646825-GG-AA c.184_185delinsTT p.P62F Missense 4/50 - 1
9-107646825-G-C c.185C>G p.P62R Missense 4/50 - 1
9-107646827-C-T c.183G>A p.M61I Missense 4/50 - 1
9-107646833-TTT-ACA c.175_177delinsTGT p.K59C Missense 4/50 - 1
9-107646838-T-C c.172A>G p.N58D Missense 4/50 - 1
9-107646843-AA-GC c.166_167delinsGC p.F56A Missense 4/50 - 1
9-107646844-A-G c.166T>C p.F56L Missense 4/50 - 1
9-107646842-A-T c.168T>A p.F56L Missense 4/50 - 1
9-107646842-A-C c.168T>G p.F56L Missense 4/50 - 1
9-107646846-T-C c.164A>G p.H55R Missense 4/50 - 1
9-107646849-C-T c.161G>A p.C54Y Missense 4/50 - 5
9-107647019-C-T c.161-170G>A - IntronicSNV - 3/49 11
9-107647077-G-A c.161-228C>T - IntronicSNV - 3/49 2
9-107647077-G-C c.161-228C>G - IntronicSNV - 3/49 2
9-107647220-C-T c.161-371G>A - IntronicSNV - 3/49 26
9-107647655-G-A c.161-806C>T - IntronicSNV - 3/49 40
9-107647655-G-T c.161-806C>A - IntronicSNV - 3/49 40
9-107648519-T-C c.161-1670A>G - IntronicSNV - 3/49 1
9-107648652-C-T c.161-1803G>A - IntronicSNV - 3/49 4
9-107650820-C-T c.160+563G>A - IntronicSNV - 3/49 1
9-107651174-T-C c.160+209A>G - IntronicSNV - 3/49 1
9-107651212-T-C c.160+171A>G - IntronicSNV - 3/49 1
9-107651383-A-T c.160T>A p.C54S Missense 3/50 - 2
9-107646849-C-G c.161G>C p.C54S Missense 4/50 - 2
9-107651388-T-C c.155A>G p.H52R Missense 3/50 - 1
9-107651392-G-A c.151C>T p.Q51* Nonsense 3/50 - 1
9-107651395-C-G c.148G>C p.E50Q Missense 3/50 - 1
9-107651400-G-A c.143C>T p.P48L Missense 3/50 - 1
9-107651400-G-C c.143C>G p.P48R Missense 3/50 - 1
9-107651406-T-C c.137A>G p.Y46C Missense 3/50 - 1
9-107651407-A-G c.136T>C p.Y46H Missense 3/50 - 1
9-107651411-C-T c.132G>A p.L44= Synonymous 3/50 - 1
9-107651415-C-A c.128G>T p.R43L Missense 3/50 - 1
9-107651415-C-T c.128G>A p.R43Q Missense 3/50 - 1
9-107651416-G-A c.127C>T p.R43W Missense 3/50 - 1
9-107651416-G-T c.127C>A p.R43= Synonymous 3/50 - 1
9-107651417-A-C c.126T>G p.V42= Synonymous 3/50 - 1
9-107651417-A-G c.126T>C p.V42= Synonymous 3/50 - 1
9-107651426-C-G c.117G>C p.L39= Synonymous 3/50 - 1
9-107651432-C-A c.111G>T p.L37= Synonymous 3/50 - 1
9-107651432-C-T c.111G>A p.L37= Synonymous 3/50 - 1
9-107651432-C-G c.111G>C p.L37= Synonymous 3/50 - 1
9-107651434-G-A c.109C>T p.L37= Synonymous 3/50 - 1
9-107651433-AG-GC c.109_110delinsGC p.L37A Missense 3/50 - 1
9-107651435-G-A c.108C>T p.F36= Synonymous 3/50 - 1
9-107651437-A-C c.106T>G p.F36V Missense 3/50 - 1
9-107651438-G-A c.105C>T p.I35= Synonymous 3/50 - 1
9-107651438-G-C c.105C>G p.I35M Missense 3/50 - 1
9-107651440-T-C c.103A>G p.I35V Missense 3/50 - 3
9-107651444-T-C c.99A>G p.L33= Synonymous 3/50 - 1
9-107651445-A-G c.98T>C p.L33P Missense 3/50 - 2
9-107651454-G-A c.89C>T p.A30V Missense 3/50 - 1
9-107651457-A-C c.86T>G p.V29G Missense 3/50 - 1
9-107651461-C-G c.82G>C p.E28Q Missense 3/50 - 1
9-107651462-C-G c.81G>C p.L27= Synonymous 3/50 - 1
9-107651464-G-A c.79C>T p.L27= Synonymous 3/50 - 1
9-107651462-C-A c.81G>T p.L27= Synonymous 3/50 - 1
9-107651462-C-T c.81G>A p.L27= Synonymous 3/50 - 1
9-107651463-AG-GA c.79_80delinsTC p.L27S Missense 3/50 - 1
9-107651467-G-A c.76C>T p.L26= Synonymous 3/50 - 1
9-107651468-CAG-GAT c.73_75delinsATC p.L25I Missense 3/50 - 1
9-107651468-C-A c.75G>T p.L25= Synonymous 3/50 - 1
9-107651468-C-G c.75G>C p.L25= Synonymous 3/50 - 1
9-107651470-G-A c.73C>T p.L25= Synonymous 3/50 - 1
9-107651471-C-A c.72G>T p.Q24H Missense 3/50 - 1
9-107651471-C-G c.72G>C p.Q24H Missense 3/50 - 1
9-107651475-C-T c.68G>A p.C23Y Missense 3/50 - 2
9-107651945-T-C c.67-469A>G - IntronicSNV - 2/49 4
9-107653426-G-A c.67-1950C>T - IntronicSNV - 2/49 8
9-107655848-T-C c.67-4372A>G - IntronicSNV - 2/49 1
9-107657070-G-A c.67-5594C>T - IntronicSNV - 2/49 18
9-107657253-G-C c.67-5777C>G - IntronicSNV - 2/49 1
9-107658385-G-A c.67-6909C>T - IntronicSNV - 2/49 2
9-107658723-C-T c.66+7172G>A - IntronicSNV - 2/49 1
9-107661129-C-A c.66+4766G>T - IntronicSNV - 2/49 1
9-107661561-C-A c.66+4334G>T - IntronicSNV - 2/49 1
9-107661561-C-G c.66+4334G>C - IntronicSNV - 2/49 1
9-107661742-A-C c.66+4153T>G - IntronicSNV - 2/49 18
9-107662494-G-A c.66+3401C>T - IntronicSNV - 2/49 8
9-107664301-C-T c.66+1594G>A - IntronicSNV - 2/49 106
9-107664815-T-C c.66+1080A>G - IntronicSNV - 2/49 2
9-107664961-A-G c.66+934T>C - IntronicSNV - 2/49 2
9-107665739-G-A c.66+156C>T - IntronicSNV - 2/49 11
9-107665751-C-T c.66+144G>A - IntronicSNV - 2/49 1
9-107665899-T-G c.62A>C p.Q21P Missense 2/50 - 1
9-107665900-G-C c.61C>G p.Q21E Missense 2/50 - 1
9-107665905-C-A c.56G>T p.R19I Missense 2/50 - 1
9-107665906-T-A c.55A>T p.R19* Nonsense 2/50 - 1
9-107665911-A-C c.50T>G p.F17C Missense 2/50 - 2
9-107665911-A-T c.50T>A p.F17Y Missense 2/50 - 1
9-107665912-A-T c.49T>A p.F17I Missense 2/50 - 1
9-107665913-A-C c.48T>G p.T16= Synonymous 2/50 - 1
9-107665914-GT-CA c.46_47delinsTG p.T16C Missense 2/50 - 1
9-107665914-G-C c.47C>G p.T16S Missense 2/50 - 1
9-107665915-T-C c.46A>G p.T16A Missense 2/50 - 1
9-107665916-G-A c.45C>T p.L15= Synonymous 2/50 - 1
9-107665929-A-G c.32T>C p.L11P Missense 2/50 - 3
9-107665933-G-A c.28C>T p.L10= Synonymous 2/50 - 1
9-107665934-C-G c.27G>C p.L9F Missense 2/50 - 1
9-107665938-C-A c.23G>T p.R8M Missense 2/50 - 1
9-107665938-C-T c.23G>A p.R8K Missense 2/50 - 1
9-107665940-C-A c.21G>T p.L7= Synonymous 2/50 - 1
9-107665940-C-T c.21G>A p.L7= Synonymous 2/50 - 1
9-107665940-C-G c.21G>C p.L7= Synonymous 2/50 - 1
9-107665942-G-A c.19C>T p.L7= Synonymous 2/50 - 1
9-107665952-A-G c.9T>C p.C3= Synonymous 2/50 - 2
9-107665953-C-G c.8G>C p.C3S Missense 2/50 - 1
9-107665953-C-T c.8G>A p.C3Y Missense 2/50 - 1
9-107665953-C-A c.8G>T p.C3F Missense 2/50 - 1
9-107665961-G-A c.-1C>T - 5-UTRSNV 2/50 - 1
9-107665961-G-C c.-1C>G - 5-UTRSNV 2/50 - 1
9-107665963-T-A c.-3A>T - 5-UTRSNV 2/50 - 1
9-107665965-C-T c.-5G>A - 5-UTRSNV 2/50 - 1
9-107665971-C-T c.-11G>A - 5-UTRSNV 2/50 - 1
9-107665974-G-A c.-14C>T - 5-UTRSNV 2/50 - 1
9-107665974-G-C c.-14C>G - 5-UTRSNV 2/50 - 1
9-107665975-C-A c.-15G>T - 5-UTRSNV 2/50 - 1
9-107665977-C-A c.-17G>T - 5-UTRSNV 2/50 - 1
9-107665977-C-T c.-17G>A - 5-UTRSNV 2/50 - 1
9-107665978-C-A c.-18G>T - 5-UTRSNV 2/50 - 15
9-107665978-C-G c.-18G>C - 5-UTRSNV 2/50 - 15
9-107665978-C-T c.-18G>A - 5-UTRSNV 2/50 - 15
9-107665984-C-G c.-24G>C - 5-UTRSNV 2/50 - 1
9-107665984-C-T c.-24G>A - 5-UTRSNV 2/50 - 1
9-107665985-G-A c.-25C>T - 5-UTRSNV 2/50 - 1
9-107665985-G-T c.-25C>A - 5-UTRSNV 2/50 - 1
9-107665986-T-C c.-26A>G - 5-UTRSNV 2/50 - 1
9-107665986-T-G c.-26A>C - 5-UTRSNV 2/50 - 1
9-107665993-C-G c.-33G>C - 5-UTRSNV 2/50 - 1
9-107665993-C-T c.-33G>A - 5-UTRSNV 2/50 - 1
9-107665994-G-A c.-34C>T - 5-UTRSNV 2/50 - 1
9-107665995-G-A c.-35C>T - 5-UTRSNV 2/50 - 1
9-107665999-C-A c.-39G>T - 5-UTRSNV 2/50 - 1
9-107665999-C-G c.-39G>C - 5-UTRSNV 2/50 - 1
9-107666002-T-C c.-42A>G - 5-UTRSNV 2/50 - 1
9-107666002-T-G c.-42A>C - 5-UTRSNV 2/50 - 1
9-107666005-A-G c.-45T>C - 5-UTRSNV 2/50 - 1
9-107666008-G-A c.-48C>T - 5-UTRSNV 2/50 - 1
9-107666035-G-GC c.-76dup - 5-UTRInsertion 2/50 - 3
9-107690402-G-A c.-279C>T - IntronicSNV 1/50 - 2
9-107690402-G-C c.-279C>G - IntronicSNV 1/50 - 2
9-107666513-T-G c.-92-461A>C - IntronicSNV - 1/49 2
9-107668064-G-C c.-92-2012C>G - IntronicSNV - 1/49 1
9-107668825-G-C c.-92-2773C>G - IntronicSNV - 1/49 1
9-107669073-T-C c.-92-3021A>G - IntronicSNV - 1/49 5
9-107669241-T-C c.-92-3189A>G - IntronicSNV - 1/49 2
9-107671659-T-C c.-92-5607A>G - IntronicSNV - 1/49 2
9-107672365-G-A c.-92-6313C>T - IntronicSNV - 1/49 1
9-107677211-G-C c.-92-11159C>G - IntronicSNV - 1/49 2
9-107677289-A-G c.-92-11237T>C - IntronicSNV - 1/49 3
9-107678278-C-T c.-93+11938G>A - intron_variant - 1/49 1
9-107678446-G-A c.-93+11770C>T - intron_variant - 1/49 2
9-107678797-C-T c.-93+11419G>A - intron_variant - 1/49 1
9-107678916-T-C c.-93+11300A>G - intron_variant - 1/49 3
9-107679500-C-A c.-93+10716G>T - intron_variant - 1/49 2
9-107680915-A-G c.-93+9301T>C - intron_variant - 1/49 3
9-107682517-T-A c.-93+7699A>T - intron_variant - 1/49 4
9-107682517-T-C c.-93+7699A>G - intron_variant - 1/49 4
9-107683122-T-A c.-93+7094A>T - intron_variant - 1/49 1
9-107683122-T-G c.-93+7094A>C - intron_variant - 1/49 1
9-107683636-T-C c.-93+6580A>G - intron_variant - 1/49 1
9-107684230-T-G c.-93+5986A>C - intron_variant - 1/49 3
9-107684318-A-C c.-93+5898T>G - intron_variant - 1/49 6
9-107686405-C-T c.-93+3811G>A - intron_variant - 1/49 1
9-107687104-C-A c.-93+3112G>T - intron_variant - 1/49 1
9-107687104-C-T c.-93+3112G>A - intron_variant - 1/49 1
9-107687193-A-C c.-93+3023T>G - intron_variant - 1/49 1
9-107689289-T-G c.-93+927A>C - intron_variant - 1/49 1
9-107690057-C-A c.-93+159G>T - intron_variant - 1/49 1
9-107690124-A-G c.-93+92T>C - intron_variant - 1/49 1