TAS1R2

TAS1R2 taste 1 receptor member 2

Annotation transcript: NM_152232.6

1072 unique variant annotations were identified in 492 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
1-19166098-C-T c.2515G>A p.D839N Missense 6/6 - 2
1-19166099-C-A c.2514G>T p.R838S Missense 6/6 - 1
1-19166100-C-T c.2513G>A p.R838K Missense 6/6 - 7
1-19166103-C-A c.2510G>T p.R837M Missense 6/6 - 1
1-19166109-G-A c.2504C>T p.T835I Missense 6/6 - 2
1-19166111-G-A c.2502C>T p.Y834= Synonymous 6/6 - 1
1-19166114-G-C c.2499C>G p.G833= Synonymous 6/6 - 1
1-19166116-C-T c.2497G>A p.G833S Missense 6/6 - 1
1-19166127-C-T c.2486G>A p.S829N Missense 6/6 - 1
1-19166132-G-A c.2481C>T p.F827= Synonymous 6/6 - 2
1-19166140-C-T c.2473G>A p.A825T Missense 6/6 - 2
1-19166141-G-A c.2472C>T p.P824= Synonymous 6/6 - 4
1-19166141-G-C c.2472C>G p.P824= Synonymous 6/6 - 1
1-19166141-G-T c.2472C>A p.P824= Synonymous 6/6 - 1
1-19166144-C-T c.2469G>A p.T823= Synonymous 6/6 - 1
1-19166151-C-T c.2462G>A p.R821H Missense 6/6 - 1
1-19166156-C-A c.2457G>T p.P819= Synonymous 6/6 - 2
1-19166156-C-G c.2457G>C p.P819= Synonymous 6/6 - 2
1-19166156-C-T c.2457G>A p.P819= Synonymous 6/6 - 3
1-19166157-G-A c.2456C>T p.P819L Missense 6/6 - 4
1-19166162-G-A c.2451C>T p.F817= Synonymous 6/6 - 2
1-19166162-G-C c.2451C>G p.F817L Missense 6/6 - 2
1-19166162-G-T c.2451C>A p.F817L Missense 6/6 - 2
1-19166164-A-G c.2449T>C p.F817L Missense 6/6 - 2
1-19166166-A-G c.2447T>C p.L816P Missense 6/6 - 2
1-19166171-C-T c.2442G>A p.M814I Missense 6/6 - 2
1-19166175-T-C c.2438A>G p.Y813C Missense 6/6 - 2
1-19166180-C-A c.2433G>T p.K811N Missense 6/6 - 1
1-19166180-C-T c.2433G>A p.K811= Synonymous 6/6 - 1
1-19166185-G-A c.2428C>T p.P810S Missense 6/6 - 2
1-19166189-G-A c.2424C>T p.F808= Synonymous 6/6 - 3
1-19166189-G-C c.2424C>G p.F808L Missense 6/6 - 1
1-19166189-G-T c.2424C>A p.F808L Missense 6/6 - 1
1-19166191-A-C c.2422T>G p.F808V Missense 6/6 - 1
1-19166191-A-G c.2422T>C p.F808L Missense 6/6 - 1
1-19166191-A-T c.2422T>A p.F808I Missense 6/6 - 2
1-19166202-C-T c.2411G>A p.S804N Missense 6/6 - 5
1-19166209-C-T c.2404G>A p.A802T Missense 6/6 - 1
1-19166211-A-G c.2402T>C p.L801P Missense 6/6 - 1
1-19166213-G-A c.2400C>T p.L800= Synonymous 6/6 - 1
1-19166215-G-A c.2398C>T p.L800F Missense 6/6 - 2
1-19166219-G-A c.2394C>T p.L798= Synonymous 6/6 - 1
1-19166228-G-A c.2385C>T p.V795= Synonymous 6/6 - 2
1-19166228-G-C c.2385C>G p.V795= Synonymous 6/6 - 1
1-19166228-G-T c.2385C>A p.V795= Synonymous 6/6 - 1
1-19166236-G-A c.2377C>T p.L793F Missense 6/6 - 1
1-19166241-A-G c.2372T>C p.V791A Missense 6/6 - 1
1-19166242-C-A c.2371G>T p.V791L Missense 6/6 - 1
1-19166243-G-A c.2370C>T p.I790= Synonymous 6/6 - 9
1-19166243-G-T c.2370C>A p.I790= Synonymous 6/6 - 1
1-19166247-G-A c.2366C>T p.T789I Missense 6/6 - 1
1-19166248-T-G c.2365A>C p.T789P Missense 6/6 - 2
1-19166252-C-A c.2361G>T p.L787= Synonymous 6/6 - 1
1-19166252-C-G c.2361G>C p.L787= Synonymous 6/6 - 2
1-19166252-C-T c.2361G>A p.L787= Synonymous 6/6 - 1
1-19166254-G-A c.2359C>T p.L787= Synonymous 6/6 - 1
1-19166254-G-C c.2359C>G p.L787V Missense 6/6 - 1
1-19166254-G-T c.2359C>A p.L787M Missense 6/6 - 1
1-19166261-G-A c.2352C>T p.S784= Synonymous 6/6 - 3
1-19166262-C-A c.2351G>T p.S784I Missense 6/6 - 1
1-19166267-G-A c.2346C>T p.A782= Synonymous 6/6 - 1
1-19166267-G-C c.2346C>G p.A782= Synonymous 6/6 - 1
1-19166267-G-T c.2346C>A p.A782= Synonymous 6/6 - 1
1-19166268-G-A c.2345C>T p.A782V Missense 6/6 - 1
1-19166275-T-A c.2338A>T p.M780L Missense 6/6 - 1
1-19166275-T-G c.2338A>C p.M780L Missense 6/6 - 1
1-19166276-G-A c.2337C>T p.F779= Synonymous 6/6 - 1
1-19166276-G-C c.2337C>G p.F779L Missense 6/6 - 2
1-19166278-A-C c.2335T>G p.F779V Missense 6/6 - 2
1-19166281-T-A c.2332A>T p.T778S Missense 6/6 - 3
1-19166285-G-A c.2328C>T p.L776= Synonymous 6/6 - 1
1-19166285-G-C c.2328C>G p.L776= Synonymous 6/6 - 1
1-19166285-G-T c.2328C>A p.L776= Synonymous 6/6 - 3
1-19166286-A-T c.2327T>A p.L776H Missense 6/6 - 2
1-19166287-G-C c.2326C>G p.L776V Missense 6/6 - 1
1-19166287-G-T c.2326C>A p.L776I Missense 6/6 - 1
1-19166289-G-A c.2324C>T p.S775F Missense 6/6 - 1
1-19166293-C-T c.2320G>A p.V774I Missense 6/6 - 3
1-19166294-G-A c.2319C>T p.S773= Synonymous 6/6 - 11
1-19166294-G-C c.2319C>G p.S773= Synonymous 6/6 - 9
1-19166301-G-A c.2312C>T p.T771I Missense 6/6 - 2
1-19166301-G-C c.2312C>G p.T771S Missense 6/6 - 1
1-19166302-T-A c.2311A>T p.T771S Missense 6/6 - 1
1-19166303-G-A c.2310C>T p.F770= Synonymous 6/6 - 1
1-19166303-G-C c.2310C>G p.F770L Missense 6/6 - 1
1-19166303-G-T c.2310C>A p.F770L Missense 6/6 - 1
1-19166305-A-G c.2308T>C p.F770L Missense 6/6 - 1
1-19166309-G-C c.2304C>G p.F768L Missense 6/6 - 1
1-19166309-G-T c.2304C>A p.F768L Missense 6/6 - 1
1-19166311-A-G c.2302T>C p.F768L Missense 6/6 - 1
1-19166313-G-A c.2300C>T p.T767I Missense 6/6 - 1
1-19166315-C-T c.2298G>A p.M766I Missense 6/6 - 2
1-19166317-T-G c.2296A>C p.M766L Missense 6/6 - 1
1-19166319-C-A c.2294G>T p.S765I Missense 6/6 - 1
1-19166323-G-T c.2290C>A p.L764I Missense 6/6 - 1
1-19166324-G-A c.2289C>T p.T763= Synonymous 6/6 - 1
1-19166324-G-C c.2289C>G p.T763= Synonymous 6/6 - 1
1-19166324-G-T c.2289C>A p.T763= Synonymous 6/6 - 1
1-19166325-GT-CC c.2287_2288delinsGG p.T763G Missense 6/6 - 1
1-19166326-T-C c.2287A>G p.T763A Missense 6/6 - 2
1-19166330-G-A c.2283C>T p.F761= Synonymous 6/6 - 1
1-19166332-A-G c.2281T>C p.F761L Missense 6/6 - 3
1-19166335-T-TA c.2277_2278insT p.K760* Nonsense 6/6 - 1
1-19166338-C-T c.2275G>A p.A759T Missense 6/6 - 1
1-19166341-C-T c.2272G>A p.E758K Missense 6/6 - 1
1-19166342-G-A c.2271C>T p.N757= Synonymous 6/6 - 1
1-19166362-C-A c.2251G>T p.E751* Nonsense 6/6 - 1
1-19166366-G-T c.2247C>A p.G749= Synonymous 6/6 - 1
1-19166370-A-G c.2243T>C p.M748T Missense 6/6 - 1
1-19166372-G-A c.2241C>T p.Y747= Synonymous 6/6 - 1
1-19166377-C-T c.2236G>A p.A746T Missense 6/6 - 5
1-19166378-G-A c.2235C>T p.F745= Synonymous 6/6 - 3
1-19166384-G-A c.2229C>T p.F743= Synonymous 6/6 - 2
1-19166386-A-T c.2227T>A p.F743I Missense 6/6 - 2
1-19166388-C-T c.2225G>A p.G742D Missense 6/6 - 1
1-19166392-C-A c.2221G>T p.V741L Missense 6/6 - 1
1-19166392-C-G c.2221G>C p.V741L Missense 6/6 - 1
1-19166394-A-T c.2219T>A p.V740E Missense 6/6 - 1
1-19166410-C-T c.2203G>A p.D735N Missense 6/6 - 2
1-19166412-A-G c.2201T>C p.L734P Missense 6/6 - 1
1-19166413-G-A c.2200C>T p.L734= Synonymous 6/6 - 1
1-19166415-C-T c.2198G>A p.S733N Missense 6/6 - 1
1-19166417-G-A c.2196C>T p.T732= Synonymous 6/6 - 1
1-19166419-T-G c.2194A>C p.T732P Missense 6/6 - 1
1-19166434-T-C c.2179A>G p.S727G Missense 6/6 - 1
1-19166439-CG-GC c.2173_2174delinsGC p.R725A Missense 6/6 - 1
1-19166439-C-T c.2174G>A p.R725H Missense 6/6 - 3
1-19166445-T-C c.2168A>G p.N723S Missense 6/6 - 3
1-19166447-G-A c.2166C>T p.P722= Synonymous 6/6 - 1
1-19166454-CA-GC c.2158_2159delinsGC p.C720A Missense 6/6 - 1
1-19166456-G-A c.2157C>T p.S719= Synonymous 6/6 - 1
1-19166457-G-A c.2156C>T p.S719F Missense 6/6 - 3
1-19166457-G-C c.2156C>G p.S719C Missense 6/6 - 1
1-19166468-G-A c.2145C>T p.I715= Synonymous 6/6 - 2
1-19166471-C-A c.2142G>T p.K714N Missense 6/6 - 4
1-19166471-C-G c.2142G>C p.K714N Missense 6/6 - 3
1-19166477-G-A c.2136C>T p.D712= Synonymous 6/6 - 1
1-19166479-C-G c.2134G>C p.D712H Missense 6/6 - 1
1-19166482-C-T c.2131G>A p.D711N Missense 6/6 - 1
1-19166484-G-T c.2129C>A p.P710H Missense 6/6 - 1
1-19166486-G-A c.2127C>T p.D709= Synonymous 6/6 - 1
1-19166488-C-T c.2125G>A p.D709N Missense 6/6 - 1
1-19166490-G-A c.2123C>T p.T708I Missense 6/6 - 2
1-19166493-C-T c.2120G>A p.R707H Missense 6/6 - 7
1-19166494-G-A c.2119C>T p.R707C Missense 6/6 - 3
1-19166498-G-C c.2115C>G p.T705= Synonymous 6/6 - 1
1-19166499-G-C c.2114C>G p.T705S Missense 6/6 - 1
1-19166500-T-A c.2113A>T p.T705S Missense 6/6 - 1
1-19166501-G-A c.2112C>T p.P704= Synonymous 6/6 - 3
1-19166501-G-C c.2112C>G p.P704= Synonymous 6/6 - 2
1-19166501-G-T c.2112C>A p.P704= Synonymous 6/6 - 2
1-19166502-G-A c.2111C>T p.P704L Missense 6/6 - 2
1-19166503-G-A c.2110C>T p.P704S Missense 6/6 - 4
1-19166501-GGGACTGAGGCCCGT-G c.2098_2111del p.T700Hfs*5 Frameshift 6/6 - 1
1-19166504-A-G c.2109T>C p.S703= Synonymous 6/6 - 3
1-19166510-G-A c.2103C>T p.G701= Synonymous 6/6 - 1
1-19166513-CGT-ACA c.2098_2100delinsTGT p.T700C Missense 6/6 - 1
1-19166514-G-A c.2099C>T p.T700M Missense 6/6 - 3
1-19166514-G-T c.2099C>A p.T700K Missense 6/6 - 1
1-19166515-T-C c.2098A>G p.T700A Missense 6/6 - 1
1-19166516-G-A c.2097C>T p.A699= Synonymous 6/6 - 3
1-19166516-G-C c.2097C>G p.A699= Synonymous 6/6 - 3
1-19166516-G-T c.2097C>A p.A699= Synonymous 6/6 - 3
1-19166519-CAG-ACA c.2092_2094delinsTGT p.L698C Missense 6/6 - 1
1-19166520-A-G c.2093T>C p.L698P Missense 6/6 - 1
1-19166522-C-A c.2091G>T p.M697I Missense 6/6 - 1
1-19166522-C-G c.2091G>C p.M697I Missense 6/6 - 1
1-19166522-C-T c.2091G>A p.M697I Missense 6/6 - 1
1-19166532-A-C c.2081T>G p.V694G Missense 6/6 - 1
1-19166536-C-T c.2077G>A p.V693M Missense 6/6 - 1
1-19166542-C-T c.2071G>A p.V691I Missense 6/6 - 1
1-19166546-T-A c.2067A>T p.K689N Missense 6/6 - 1
1-19166546-T-G c.2067A>C p.K689N Missense 6/6 - 1
1-19166553-A-G c.2060T>C p.V687A Missense 6/6 - 1
1-19166555-C-A c.2058G>T p.T686= Synonymous 6/6 - 1
1-19166555-C-G c.2058G>C p.T686= Synonymous 6/6 - 1
1-19166555-C-T c.2058G>A p.T686= Synonymous 6/6 - 1
1-19166556-G-A c.2057C>T p.T686M Missense 6/6 - 1
1-19166560-T-C c.2053A>G p.I685V Missense 6/6 - 1
1-19166566-C-T c.2047G>A p.A683T Missense 6/6 - 1
1-19166572-A-C c.2041T>G p.S681A Missense 6/6 - 1
1-19166573-G-A c.2040C>T p.V680= Synonymous 6/6 - 1
1-19166575-C-A c.2038G>T p.V680F Missense 6/6 - 1
1-19166575-C-T c.2038G>A p.V680I Missense 6/6 - 1
1-19166581-G-A c.2032C>T p.P678S Missense 6/6 - 2
1-19166582-C-T c.2031G>A p.G677= Synonymous 6/6 - 1
1-19166584-C-G c.2029G>C p.G677R Missense 6/6 - 1
1-19166584-C-T c.2029G>A p.G677R Missense 6/6 - 1
1-19166585-C-A c.2028G>T p.Q676H Missense 6/6 - 1
1-19166585-C-G c.2028G>C p.Q676H Missense 6/6 - 1
1-19166587-G-A c.2026C>T p.Q676* Nonsense 6/6 - 1
1-19166590-A-T c.2023T>A p.Y675N Missense 6/6 - 1
1-19166591-G-A c.2022C>T p.R674= Synonymous 6/6 - 1
1-19166592-C-T c.2021G>A p.R674H Missense 6/6 - 4
1-19166593-G-A c.2020C>T p.R674C Missense 6/6 - 7
1-19166597-C-A c.2016G>T p.W672C Missense 6/6 - 2
1-19166597-C-G c.2016G>C p.W672C Missense 6/6 - 2
1-19166603-G-A c.2010C>T p.S670= Synonymous 6/6 - 1
1-19166607-T-C c.2006A>G p.Y669C Missense 6/6 - 1
1-19166611-C-T c.2002G>A p.A668T Missense 6/6 - 4
1-19166612-G-A c.2001C>T p.R667= Synonymous 6/6 - 2
1-19166613-C-T c.2000G>A p.R667H Missense 6/6 - 3
1-19166617-G-A c.1996C>T p.P666S Missense 6/6 - 3
1-19166621-G-A c.1992C>T p.R664= Synonymous 6/6 - 1
1-19166621-G-C c.1992C>G p.R664= Synonymous 6/6 - 2
1-19166621-G-T c.1992C>A p.R664= Synonymous 6/6 - 1
1-19166622-C-T c.1991G>A p.R664H Missense 6/6 - 1
1-19166623-G-A c.1990C>T p.R664C Missense 6/6 - 1
1-19166623-G-C c.1990C>G p.R664G Missense 6/6 - 1
1-19166623-G-T c.1990C>A p.R664S Missense 6/6 - 1
1-19166624-G-A c.1989C>T p.S663= Synonymous 6/6 - 2
1-19166625-C-G c.1988G>C p.S663T Missense 6/6 - 1
1-19166629-C-T c.1984G>A p.A662T Missense 6/6 - 1
1-19166635-T-A c.1978A>T p.K660* Nonsense 6/6 - 1
1-19166636-G-A c.1977C>T p.F659= Synonymous 6/6 - 1
1-19166639-G-A c.1974C>T p.A658= Synonymous 6/6 - 1
1-19166641-C-T c.1972G>A p.A658T Missense 6/6 - 4
1-19166642-G-T c.1971C>A p.C657* Nonsense 6/6 - 3
1-19166647-C-T c.1966G>A p.V656I Missense 6/6 - 3
1-19166648-G-A c.1965C>T p.I655= Synonymous 6/6 - 6
1-19166648-G-T c.1965C>A p.I655= Synonymous 6/6 - 3
1-19166653-G-A c.1960C>T p.Q654* Nonsense 6/6 - 2
1-19166654-G-C c.1959C>G p.F653L Missense 6/6 - 1
1-19166654-G-T c.1959C>A p.F653L Missense 6/6 - 1
1-19166656-A-G c.1957T>C p.F653L Missense 6/6 - 1
1-19166658-G-A c.1955C>T p.S652F Missense 6/6 - 1
1-19166660-A-C c.1953T>G p.R651= Synonymous 6/6 - 1
1-19166660-ACG-CTT c.1951_1953delinsAAG p.R651K Missense 6/6 - 1
1-19166660-A-G c.1953T>C p.R651= Synonymous 6/6 - 1
1-19166660-A-T c.1953T>A p.R651= Synonymous 6/6 - 1
1-19166661-C-T c.1952G>A p.R651H Missense 6/6 - 6
1-19166663-C-T c.1950G>A p.V650= Synonymous 6/6 - 1
1-19166665-C-A c.1948G>T p.V650L Missense 6/6 - 1
1-19166665-C-T c.1948G>A p.V650M Missense 6/6 - 3
1-19166666-G-A c.1947C>T p.A649= Synonymous 6/6 - 2
1-19166666-G-C c.1947C>G p.A649= Synonymous 6/6 - 1
1-19166666-G-T c.1947C>A p.A649= Synonymous 6/6 - 1
1-19166668-C-T c.1945G>A p.A649T Missense 6/6 - 4
1-19166669-G-A c.1944C>T p.I648= Synonymous 6/6 - 6
1-19166669-G-T c.1944C>A p.I648= Synonymous 6/6 - 4
1-19166674-A-G c.1939T>C p.C647R Missense 6/6 - 3
1-19166676-G-A c.1937C>T p.S646F Missense 6/6 - 3
1-19166676-G-C c.1937C>G p.S646C Missense 6/6 - 1
1-19166678-G-A c.1935C>T p.I645= Synonymous 6/6 - 1
1-19166678-G-C c.1935C>G p.I645M Missense 6/6 - 1
1-19166678-G-T c.1935C>A p.I645= Synonymous 6/6 - 1
1-19166690-G-A c.1923C>T p.F641= Synonymous 6/6 - 1
1-19166701-G-A c.1912C>T p.P638S Missense 6/6 - 3
1-19166709-G-A c.1904C>T p.A635V Missense 6/6 - 1
1-19166709-G-C c.1904C>G p.A635G Missense 6/6 - 1
1-19166711-C-T c.1902G>A p.Q634= Synonymous 6/6 - 1
1-19166715-C-A c.1898G>T p.R633L Missense 6/6 - 2
1-19166715-C-T c.1898G>A p.R633H Missense 6/6 - 1
1-19166716-G-C c.1897C>G p.R633G Missense 6/6 - 1
1-19166717-G-A c.1896C>T p.C632= Synonymous 6/6 - 1
1-19166718-C-A c.1895G>T p.C632F Missense 6/6 - 1
1-19166719-A-C c.1894T>G p.C632G Missense 6/6 - 1
1-19166726-G-A c.1887C>T p.T629= Synonymous 6/6 - 1
1-19166728-T-G c.1885A>C p.T629P Missense 6/6 - 1
1-19166729-G-T c.1884C>A p.S628= Synonymous 6/6 - 1
1-19166730-GA-CG c.1882_1883delinsCG p.S628R Missense 6/6 - 1
1-19166737-T-C c.1876A>G p.K626E Missense 6/6 - 1
1-19166739-G-A c.1874C>T p.P625L Missense 6/6 - 1
1-19166741-C-A c.1872G>T p.P624= Synonymous 6/6 - 2
1-19166741-C-G c.1872G>C p.P624= Synonymous 6/6 - 2
1-19166741-CG-AT c.1871_1872delinsAT p.P624H Missense 6/6 - 1
1-19166741-C-T c.1872G>A p.P624= Synonymous 6/6 - 3
1-19166742-G-A c.1871C>T p.P624L Missense 6/6 - 3
1-19166744-CCC-GCT c.1867_1869delinsAGC p.G623S Missense 6/6 - 1
1-19166744-CC-GT c.1868_1869delinsAC p.G623D Missense 6/6 - 1
1-19166746-C-T c.1867G>A p.G623R Missense 6/6 - 3
1-19166750-G-A c.1863C>T p.Y621= Synonymous 6/6 - 1
1-19166755-C-T c.1858G>A p.V620M Missense 6/6 - 3
1-19166756-C-A c.1857G>T p.P619= Synonymous 6/6 - 1
1-19166756-C-G c.1857G>C p.P619= Synonymous 6/6 - 2
1-19166756-C-T c.1857G>A p.P619= Synonymous 6/6 - 2
1-19166764-C-T c.1849G>A p.V617M Missense 6/6 - 2
1-19166767-T-C c.1846A>G p.M616V Missense 6/6 - 1
1-19166768-G-A c.1845C>T p.Y615= Synonymous 6/6 - 1
1-19166776-C-T c.1837G>A p.V613M Missense 6/6 - 1
1-19166783-C-A c.1830G>T p.L610= Synonymous 6/6 - 1
1-19166783-C-G c.1830G>C p.L610= Synonymous 6/6 - 1
1-19166783-C-T c.1830G>A p.L610= Synonymous 6/6 - 1
1-19166785-G-A c.1828C>T p.L610= Synonymous 6/6 - 1
1-19166785-G-C c.1828C>G p.L610V Missense 6/6 - 1
1-19166788-T-A c.1825A>T p.T609S Missense 6/6 - 2
1-19166796-A-G c.1817T>C p.L606P Missense 6/6 - 1
1-19166808-G-A c.1805C>T p.P602L Missense 6/6 - 1
1-19166809-G-T c.1804C>A p.P602T Missense 6/6 - 3
1-19166806-T-TG c.1806dup p.M603Hfs*107 Frameshift 6/6 - 1
1-19166812-C-T c.1801G>A p.G601S Missense 6/6 - 4
1-19166814-C-T c.1799G>A p.G600E Missense 6/6 - 2
1-19166810-GC-G c.1802del p.G601Afs*6 Frameshift 6/6 - 1
1-19166815-C-A c.1798G>T p.G600W Missense 6/6 - 1
1-19166820-G-A c.1793C>T p.S598L Missense 6/6 - 1
1-19166820-G-T c.1793C>A p.S598* Nonsense 6/6 - 3
1-19166823-C-G c.1790G>C p.R597P Missense 6/6 - 1
1-19166823-C-T c.1790G>A p.R597H Missense 6/6 - 9
1-19166824-G-A c.1789C>T p.R597C Missense 6/6 - 12
1-19166829-A-G c.1784T>C p.I595T Missense 6/6 - 8
1-19166832-G-A c.1781C>T p.P594L Missense 6/6 - 3
1-19166849-C-A c.1764G>T p.W588C Missense 6/6 - 1
1-19166849-C-G c.1764G>C p.W588C Missense 6/6 - 1
1-19166871-A-G c.1742T>C p.L581P Missense 6/6 - 1
1-19166871-A-T c.1742T>A p.L581Q Missense 6/6 - 1
1-19166873-G-A c.1740C>T p.T580= Synonymous 6/6 - 4
1-19166873-G-C c.1740C>G p.T580= Synonymous 6/6 - 2
1-19166873-G-T c.1740C>A p.T580= Synonymous 6/6 - 2
1-19166876-G-T c.1737C>A p.S579R Missense 6/6 - 1
1-19166881-G-A c.1732C>T p.L578F Missense 6/6 - 1
1-19166887-C-T c.1726G>A p.G576S Missense 6/6 - 1
1-19166891-G-A c.1722C>T p.A574= Synonymous 6/6 - 1
1-19166891-G-C c.1722C>G p.A574= Synonymous 6/6 - 1
1-19166891-G-T c.1722C>A p.A574= Synonymous 6/6 - 1
1-19166892-G-T c.1721C>A p.A574D Missense 6/6 - 1
1-19166893-C-T c.1720G>A p.A574T Missense 6/6 - 17
1-19166894-G-A c.1719C>T p.A573= Synonymous 6/6 - 1
1-19166898-A-G c.1715T>C p.L572P Missense 6/6 - 1
1-19166900-C-A c.1713G>T p.L571= Synonymous 6/6 - 1
1-19166900-C-G c.1713G>C p.L571= Synonymous 6/6 - 1
1-19166900-C-T c.1713G>A p.L571= Synonymous 6/6 - 1
1-19166902-G-A c.1711C>T p.L571= Synonymous 6/6 - 1
1-19166904-G-A c.1709C>T p.A570V Missense 6/6 - 2
1-19166906-C-T c.1707G>A p.V569= Synonymous 6/6 - 1
1-19166907-A-G c.1706T>C p.V569A Missense 6/6 - 1
1-19166909-A-T c.1704T>A p.A568= Synonymous 6/6 - 1
1-19166910-G-T c.1703C>A p.A568D Missense 6/6 - 2
1-19166911-C-T c.1702G>A p.A568T Missense 6/6 - 4
1-19166912-G-A c.1701C>T p.I567= Synonymous 6/6 - 6
1-19166912-G-T c.1701C>A p.I567= Synonymous 6/6 - 1
1-19166916-G-A c.1697C>T p.T566I Missense 6/6 - 1
1-19166922-G-T c.1691C>A p.A564E Missense 6/6 - 1
1-19166926-C-G c.1687G>C p.E563Q Missense 6/6 - 1
1-19166927-A-G c.1686T>C p.H562= Synonymous 6/6 - 1
1-19166928-TG-GC c.1684_1685delinsGC p.H562A Missense 6/6 - 1
1-19166935-C-A c.1678G>T p.E560* Nonsense 6/6 - 1
1-19166936-C-A c.1677G>T p.L559= Synonymous 6/6 - 1
1-19166936-C-G c.1677G>C p.L559= Synonymous 6/6 - 1
1-19166936-C-T c.1677G>A p.L559= Synonymous 6/6 - 2
1-19166938-G-A c.1675C>T p.L559= Synonymous 6/6 - 1
1-19166939-G-A c.1674C>T p.F558= Synonymous 6/6 - 1
1-19166943-A-G c.1670T>C p.V557A Missense 6/6 - 2
1-19166948-C-T c.1665G>A p.Q555= Synonymous 6/6 - 3
1-19166951-C-T c.1662G>A p.R554= Synonymous 6/6 - 1
1-19166952-C-T c.1661G>A p.R554Q Missense 6/6 - 4
1-19166953-G-A c.1660C>T p.R554W Missense 6/6 - 2
1-19166953-G-T c.1660C>A p.R554= Synonymous 6/6 - 1
1-19166964-G-A c.1649C>T p.S550F Missense 6/6 - 1
1-19166966-G-T c.1647C>A p.T549= Synonymous 6/6 - 1
1-19166969-C-G c.1644G>C p.E548D Missense 6/6 - 1
1-19166972-A-C c.1641T>G p.S547R Missense 6/6 - 1
1-19166972-A-T c.1641T>A p.S547R Missense 6/6 - 1
1-19166974-T-G c.1639A>C p.S547R Missense 6/6 - 1
1-19166978-G-A c.1635C>T p.Y545= Synonymous 6/6 - 1
1-19166980-A-G c.1633T>C p.Y545H Missense 6/6 - 1
1-19166982-G-A c.1631C>T p.S544F Missense 6/6 - 1
1-19166987-C-T c.1626G>A p.E542= Synonymous 6/6 - 1
1-19166988-T-A c.1625A>T p.E542V Missense 6/6 - 1
1-19166989-C-T c.1624G>A p.E542K Missense 6/6 - 2
1-19166990-G-A c.1623C>T p.N541= Synonymous 6/6 - 3
1-19166991-T-C c.1622A>G p.N541S Missense 6/6 - 2
1-19166996-C-T c.1617G>A p.P539= Synonymous 6/6 - 1
1-19166997-G-A c.1616C>T p.P539L Missense 6/6 - 3
1-19166999-G-T c.1614C>A p.C538* Nonsense 6/6 - 1
1-19167000-C-T c.1613G>A p.C538Y Missense 6/6 - 1
1-19167002-G-T c.1611C>A p.A537= Synonymous 6/6 - 1
1-19167003-G-A c.1610C>T p.A537V Missense 6/6 - 4
1-19167003-G-C c.1610C>G p.A537G Missense 6/6 - 1
1-19167003-G-T c.1610C>A p.A537D Missense 6/6 - 1
1-19167004-C-G c.1609G>C p.A537P Missense 6/6 - 2
1-19167004-C-T c.1609G>A p.A537T Missense 6/6 - 1
1-19167005-C-A c.1608G>T p.Q536H Missense 6/6 - 1
1-19167005-C-G c.1608G>C p.Q536H Missense 6/6 - 1
1-19167005-C-T c.1608G>A p.Q536= Synonymous 6/6 - 2
1-19167006-TG-T c.1606del p.Q536Rfs*50 Frameshift 6/6 - 1
1-19167019-C-T c.1594G>A p.E532K Missense 6/6 - 5
1-19168221-A-T c.1591+2T>A - IntronicSNV - 5/5 1
1-19168222-C-T c.1591+1G>A - IntronicSNV - 5/5 2
1-19168233-G-GT c.1580dup p.N527Kfs*4 Frameshift 5/6 - 2
1-19168236-G-A c.1578C>T p.L526= Synonymous 5/6 - 3
1-19168237-A-C c.1577T>G p.L526R Missense 5/6 - 2
1-19168239-G-A c.1575C>T p.F525= Synonymous 5/6 - 2
1-19168242-G-A c.1572C>T p.T524= Synonymous 5/6 - 1
1-19168242-G-C c.1572C>G p.T524= Synonymous 5/6 - 1
1-19168242-G-T c.1572C>A p.T524= Synonymous 5/6 - 1
1-19168243-G-A c.1571C>T p.T524I Missense 5/6 - 1
1-19168248-G-A c.1566C>T p.P522= Synonymous 5/6 - 1
1-19168250-G-A c.1564C>T p.P522S Missense 5/6 - 2
1-19168259-C-G c.1555G>C p.D519H Missense 5/6 - 2
1-19168262-T-G c.1552A>C p.I518L Missense 5/6 - 1
1-19168268-C-T c.1546G>A p.E516K Missense 5/6 - 1
1-19168269-G-A c.1545C>T p.F515= Synonymous 5/6 - 3
1-19168273-C-G c.1541G>C p.C514S Missense 5/6 - 2
1-19168274-A-T c.1540T>A p.C514S Missense 5/6 - 2
1-19168278-G-A c.1536C>T p.V512= Synonymous 5/6 - 1
1-19168278-GAC-CAT c.1534_1536delinsATG p.V512M Missense 5/6 - 1
1-19168280-C-T c.1534G>A p.V512I Missense 5/6 - 4
1-19168281-G-A c.1533C>T p.H511= Synonymous 5/6 - 1
1-19168282-TG-GC c.1531_1532delinsGC p.H511A Missense 5/6 - 1
1-19168283-G-T c.1531C>A p.H511N Missense 5/6 - 1
1-19168286-T-C c.1528A>G p.I510V Missense 5/6 - 1
1-19168287-G-A c.1527C>T p.G509= Synonymous 5/6 - 1
1-19168295-G-T c.1519C>A p.P507T Missense 5/6 - 3
1-19168296-C-T c.1518G>A p.K506= Synonymous 5/6 - 2
1-19168299-C-T c.1515G>A p.K505= Synonymous 5/6 - 4
1-19168302-C-T c.1512G>A p.K504= Synonymous 5/6 - 1
1-19168303-T-C c.1511A>G p.K504R Missense 5/6 - 2
1-19168308-C-A c.1506G>T p.G502= Synonymous 5/6 - 1
1-19168308-C-G c.1506G>C p.G502= Synonymous 5/6 - 1
1-19168308-C-T c.1506G>A p.G502= Synonymous 5/6 - 1
1-19168309-C-T c.1505G>A p.G502E Missense 5/6 - 1
1-19168314-C-T c.1500G>A p.Q500= Synonymous 5/6 - 1
1-19168320-C-T c.1494G>A p.R498= Synonymous 5/6 - 1
1-19168324-T-A c.1490A>T p.K497M Missense 5/6 - 2
1-19168326-G-A c.1488C>T p.S496= Synonymous 5/6 - 2
1-19168334-T-C c.1480A>G p.M494V Missense 5/6 - 1
1-19168337-A-G c.1477T>C p.S493P Missense 5/6 - 1
1-19168338-C-A c.1476G>T p.M492I Missense 5/6 - 2
1-19168338-C-G c.1476G>C p.M492I Missense 5/6 - 2
1-19168338-C-T c.1476G>A p.M492I Missense 5/6 - 2
1-19168341-A-T c.1473T>A p.P491= Synonymous 5/6 - 1
1-19168342-G-T c.1472C>A p.P491H Missense 5/6 - 1
1-19168343-G-A c.1471C>T p.P491S Missense 5/6 - 1
1-19168344-G-A c.1470C>T p.I490= Synonymous 5/6 - 3
1-19168344-G-T c.1470C>A p.I490= Synonymous 5/6 - 1
1-19175711-C-T c.1467+124G>A - IntronicSNV - 4/5 1
1-19175835-C-T c.1467G>A p.T489= Synonymous 4/6 - 1
1-19175837-T-G c.1465A>C p.T489P Missense 4/6 - 2
1-19175839-T-G c.1463A>C p.N488T Missense 4/6 - 3
1-19175844-G-A c.1458C>T p.I486= Synonymous 4/6 - 2
1-19175844-G-T c.1458C>A p.I486= Synonymous 4/6 - 2
1-19175846-T-C c.1456A>G p.I486V Missense 4/6 - 16
1-19175848-G-T c.1454C>A p.T485N Missense 4/6 - 1
1-19175851-TG-GC c.1450_1451delinsGC p.H484A Missense 4/6 - 1
1-19175857-G-A c.1445C>T p.S482F Missense 4/6 - 2
1-19175862-G-A c.1440C>T p.D480= Synonymous 4/6 - 1
1-19175874-C-T c.1428G>A p.K476= Synonymous 4/6 - 2
1-19175876-T-G c.1426A>C p.K476Q Missense 4/6 - 1
1-19175882-G-T c.1420C>A p.Q474K Missense 4/6 - 1
1-19175884-C-T c.1418G>A p.R473Q Missense 4/6 - 5
1-19175885-G-A c.1417C>T p.R473* Nonsense 4/6 - 1
1-19175888-G-A c.1414C>T p.Q472* Nonsense 4/6 - 2
1-19175890-A-C c.1412T>G p.L471R Missense 4/6 - 1
1-19175891-G-A c.1411C>T p.L471= Synonymous 4/6 - 1
1-19175893-G-A c.1409C>T p.P470L Missense 4/6 - 2
1-19175890-AG-A c.1411del p.L471Cfs*5 Frameshift 4/6 - 2
1-19175895-G-A c.1407C>T p.Y469= Synonymous 4/6 - 1
1-19175895-G-C c.1407C>G p.Y469* Nonsense 4/6 - 1
1-19175895-G-T c.1407C>A p.Y469* Nonsense 4/6 - 1
1-19175899-T-A c.1403A>T p.Y468F Missense 4/6 - 1
1-19175905-G-A c.1397C>T p.A466V Missense 4/6 - 1
1-19175906-C-T c.1396G>A p.A466T Missense 4/6 - 3
1-19175909-C-T c.1393G>A p.V465I Missense 4/6 - 1
1-19175910-G-C c.1392C>G p.S464R Missense 4/6 - 3
1-19175910-G-T c.1392C>A p.S464R Missense 4/6 - 3
1-19175912-T-G c.1390A>C p.S464R Missense 4/6 - 4
1-19175919-G-A c.1383C>T p.P461= Synonymous 4/6 - 1
1-19175919-G-C c.1383C>G p.P461= Synonymous 4/6 - 1
1-19175919-G-T c.1383C>A p.P461= Synonymous 4/6 - 1
1-19175920-G-A c.1382C>T p.P461L Missense 4/6 - 4
1-19175921-G-A c.1381C>T p.P461S Missense 4/6 - 3
1-19175921-G-C c.1381C>G p.P461A Missense 4/6 - 1
1-19175931-C-A c.1371G>T p.R457= Synonymous 4/6 - 1
1-19175931-CCG-ACA c.1369_1371delinsTGT p.R457C Missense 4/6 - 1
1-19175932-C-T c.1370G>A p.R457Q Missense 4/6 - 3
1-19175934-G-C c.1368C>G p.D456E Missense 4/6 - 1
1-19175934-G-T c.1368C>A p.D456E Missense 4/6 - 1
1-19175936-C-T c.1366G>A p.D456N Missense 4/6 - 1
1-19175938-C-A c.1364G>T p.W455L Missense 4/6 - 1
1-19175946-C-T c.1356G>A p.Q452= Synonymous 4/6 - 1
1-19175949-G-A c.1353C>T p.V451= Synonymous 4/6 - 1
1-19175949-G-C c.1353C>G p.V451= Synonymous 4/6 - 1
1-19175949-G-T c.1353C>A p.V451= Synonymous 4/6 - 1
1-19175951-C-T c.1351G>A p.V451I Missense 4/6 - 2
1-19175952-AAT-CTC c.1348_1350delinsGAG p.I450E Missense 4/6 - 1
1-19175955-C-T c.1347G>A p.E449= Synonymous 4/6 - 2
1-19175961-G-C c.1341C>G p.H447Q Missense 4/6 - 3
1-19175961-G-T c.1341C>A p.H447Q Missense 4/6 - 2
1-19175962-TG-GC c.1339_1340delinsGC p.H447A Missense 4/6 - 1
1-19175965-A-G c.1337T>C p.L446P Missense 4/6 - 1
1-19175968-G-A c.1334C>T p.A445V Missense 4/6 - 2
1-19175968-G-C c.1334C>G p.A445G Missense 4/6 - 1
1-19175973-G-A c.1329C>T p.D443= Synonymous 4/6 - 1
1-19175975-C-T c.1327G>A p.D443N Missense 4/6 - 3
1-19175978-C-T c.1324G>A p.G442R Missense 4/6 - 1
1-19175980-T-C c.1322A>G p.Q441R Missense 4/6 - 1
1-19175983-G-A c.1319C>T p.P440L Missense 4/6 - 1
1-19175984-G-A c.1318C>T p.P440S Missense 4/6 - 1
1-19175987-C-T c.1315G>A p.D439N Missense 4/6 - 3
1-19175988-G-A c.1314C>T p.F438= Synonymous 4/6 - 2
1-19175990-A-G c.1312T>C p.F438L Missense 4/6 - 1
1-19175991-G-A c.1311C>T p.F437= Synonymous 4/6 - 1
1-19175995-A-G c.1307T>C p.I436T Missense 4/6 - 1
1-19175996-T-G c.1306A>C p.I436L Missense 4/6 - 1
1-19176000-G-C c.1302C>G p.H434Q Missense 4/6 - 1
1-19176001-T-C c.1301A>G p.H434R Missense 4/6 - 1
1-19176001-TG-GC c.1300_1301delinsGC p.H434A Missense 4/6 - 1
1-19176003-G-C c.1299C>G p.D433E Missense 4/6 - 1
1-19176003-G-T c.1299C>A p.D433E Missense 4/6 - 1
1-19176005-C-T c.1297G>A p.D433N Missense 4/6 - 6
1-19176011-G-T c.1291C>A p.L431I Missense 4/6 - 1
1-19176015-G-A c.1287C>T p.F429= Synonymous 4/6 - 2
1-19176017-A-T c.1285T>A p.F429I Missense 4/6 - 3
1-19176018-G-C c.1284C>G p.N428K Missense 4/6 - 1
1-19176018-G-T c.1284C>A p.N428K Missense 4/6 - 1
1-19176027-C-T c.1275G>A p.W425* Nonsense 4/6 - 1
1-19176028-C-T c.1274G>A p.W425* Nonsense 4/6 - 1
1-19176031-A-C c.1271T>G p.I424S Missense 4/6 - 1
1-19176035-C-T c.1267G>A p.E423K Missense 4/6 - 1
1-19180665-G-T c.1257+42C>A - IntronicSNV - 3/5 2
1-19180710-C-T c.1254G>A p.W418* Nonsense 3/6 - 2
1-19180711-C-A c.1253G>T p.W418L Missense 3/6 - 2
1-19180711-C-T c.1253G>A p.W418* Nonsense 3/6 - 4
1-19180714-G-A c.1250C>T p.P417L Missense 3/6 - 2
1-19180721-C-T c.1243G>A p.V415I Missense 3/6 - 4
1-19180725-CC-GA c.1238_1239delinsTC p.R413I Missense 3/6 - 1
1-19180726-C-T c.1238G>A p.R413K Missense 3/6 - 1
1-19180731-G-A c.1233C>T p.T411= Synonymous 3/6 - 3
1-19180733-T-C c.1231A>G p.T411A Missense 3/6 - 1
1-19180738-G-T c.1226C>A p.T409N Missense 3/6 - 1
1-19180744-T-A c.1220A>T p.K407I Missense 3/6 - 1
1-19180745-T-C c.1219A>G p.K407E Missense 3/6 - 1
1-19180748-C-A c.1216G>T p.D406Y Missense 3/6 - 1
1-19180748-C-T c.1216G>A p.D406N Missense 3/6 - 2
1-19180753-CC-TT c.1210_1211delinsAA p.G404N Missense 3/6 - 1
1-19180753-C-T c.1211G>A p.G404D Missense 3/6 - 1
1-19180755-G-A c.1209C>T p.L403= Synonymous 3/6 - 2
1-19180755-G-C c.1209C>G p.L403= Synonymous 3/6 - 2
1-19180755-G-T c.1209C>A p.L403= Synonymous 3/6 - 2
1-19180762-C-T c.1202G>A p.S401N Missense 3/6 - 1
1-19180765-T-G c.1199A>C p.H400P Missense 3/6 - 1
1-19180772-C-T c.1192G>A p.A398T Missense 3/6 - 1
1-19180774-TG-GC c.1189_1190delinsGC p.H397A Missense 3/6 - 1
1-19180775-G-T c.1189C>A p.H397N Missense 3/6 - 1
1-19180777-G-A c.1187C>T p.A396V Missense 3/6 - 1
1-19180779-C-T c.1185G>A p.V395= Synonymous 3/6 - 1
1-19180780-A-G c.1184T>C p.V395A Missense 3/6 - 1
1-19180790-C-T c.1174G>A p.V392I Missense 3/6 - 2
1-19180792-G-A c.1172C>T p.A391V Missense 3/6 - 2
1-19180795-G-A c.1169C>T p.S390F Missense 3/6 - 2
1-19180795-G-C c.1169C>G p.S390C Missense 3/6 - 2
1-19180801-A-T c.1163T>A p.V388E Missense 3/6 - 2
1-19180802-C-A c.1162G>T p.V388L Missense 3/6 - 1
1-19180802-C-T c.1162G>A p.V388M Missense 3/6 - 1
1-19180803-G-A c.1161C>T p.S387= Synonymous 3/6 - 1
1-19180804-C-T c.1160G>A p.S387N Missense 3/6 - 1
1-19180811-C-T c.1153G>A p.V385I Missense 3/6 - 2
1-19180813-A-G c.1151T>C p.V384A Missense 3/6 - 1
1-19180815-ACG-CTT c.1147_1149delinsAAG p.R383K Missense 3/6 - 1
1-19180815-AC-TT c.1148_1149delinsAA p.R383Q Missense 3/6 - 1
1-19180815-A-G c.1149T>C p.R383= Synonymous 3/6 - 1
1-19180816-C-A c.1148G>T p.R383L Missense 3/6 - 1
1-19180816-CG-GC c.1147_1148delinsGC p.R383A Missense 3/6 - 3
1-19180816-CG-TC c.1147_1148delinsGA p.R383D Missense 3/6 - 1
1-19180816-C-T c.1148G>A p.R383H Missense 3/6 - 3
1-19180817-G-A c.1147C>T p.R383C Missense 3/6 - 1
1-19180819-T-G c.1145A>C p.E382A Missense 3/6 - 2
1-19180832-T-G c.1132A>C p.R378= Synonymous 3/6 - 2
1-19180838-T-G c.1126A>C p.I376L Missense 3/6 - 1
1-19180846-A-C c.1118T>G p.F373C Missense 3/6 - 1
1-19180849-G-A c.1115C>T p.S372F Missense 3/6 - 4
1-19180849-G-T c.1115C>A p.S372Y Missense 3/6 - 1
1-19180854-GGT-G c.1108_1109del p.T370Lfs*36 Frameshift 3/6 - 1
1-19180859-C-T c.1105G>A p.A369T Missense 3/6 - 3
1-19180862-T-G c.1102A>C p.N368H Missense 3/6 - 1
1-19180865-G-A c.1099C>T p.L367= Synonymous 3/6 - 3
1-19180866-G-A c.1098C>T p.C366= Synonymous 3/6 - 2
1-19180874-C-A c.1090G>T p.D364Y Missense 3/6 - 1
1-19180874-C-G c.1090G>C p.D364H Missense 3/6 - 2
1-19180883-G-T c.1081C>A p.Q361K Missense 3/6 - 2
1-19180889-A-G c.1075T>C p.C359R Missense 3/6 - 1
1-19180890-G-A c.1074C>T p.T358= Synonymous 3/6 - 2
1-19180890-G-C c.1074C>G p.T358= Synonymous 3/6 - 3
1-19180890-G-T c.1074C>A p.T358= Synonymous 3/6 - 2
1-19180891-G-A c.1073C>T p.T358I Missense 3/6 - 1
1-19180897-C-T c.1067G>A p.S356N Missense 3/6 - 2
1-19180900-T-G c.1064A>C p.Q355P Missense 3/6 - 1
1-19180907-T-G c.1057A>C p.T353P Missense 3/6 - 1
1-19180908-C-T c.1056G>A p.R352= Synonymous 3/6 - 3
1-19180909-C-T c.1055G>A p.R352K Missense 3/6 - 1
1-19180910-T-TA c.1053_1054insT p.R352* Nonsense 3/6 - 1
1-19180912-C-T c.1052G>A p.S351N Missense 3/6 - 1
1-19180914-G-A c.1050C>T p.L350= Synonymous 3/6 - 3
1-19180914-G-C c.1050C>G p.L350= Synonymous 3/6 - 1
1-19180914-G-T c.1050C>A p.L350= Synonymous 3/6 - 1
1-19180918-G-A c.1046C>T p.P349L Missense 3/6 - 6
1-19180921-G-A c.1043C>T p.P348L Missense 3/6 - 1
1-19180922-G-A c.1042C>T p.P348S Missense 3/6 - 1
1-19180923-C-A c.1041G>T p.P347= Synonymous 3/6 - 2
1-19180923-C-G c.1041G>C p.P347= Synonymous 3/6 - 2
1-19180923-C-T c.1041G>A p.P347= Synonymous 3/6 - 5
1-19180926-C-A c.1038G>T p.G346= Synonymous 3/6 - 1
1-19180928-C-G c.1036G>C p.G346R Missense 3/6 - 1
1-19180928-C-T c.1036G>A p.G346R Missense 3/6 - 1
1-19180942-C-G c.1022G>C p.W341S Missense 3/6 - 1
1-19180943-A-C c.1021T>G p.W341G Missense 3/6 - 3
1-19180946-C-T c.1018G>A p.E340K Missense 3/6 - 1
1-19180947-G-A c.1017C>T p.R339= Synonymous 3/6 - 3
1-19180948-C-T c.1016G>A p.R339H Missense 3/6 - 2
1-19180949-G-A c.1015C>T p.R339C Missense 3/6 - 3
1-19180949-G-C c.1015C>G p.R339G Missense 3/6 - 1
1-19180949-G-T c.1015C>A p.R339S Missense 3/6 - 1
1-19180950-G-A c.1014C>T p.F338= Synonymous 3/6 - 1
1-19180953-C-A c.1011G>T p.E337D Missense 3/6 - 1
1-19180953-C-G c.1011G>C p.E337D Missense 3/6 - 1
1-19180963-C-T c.1001G>A p.G334D Missense 3/6 - 2
1-19180966-G-A c.998C>T p.P333L Missense 3/6 - 1
1-19180967-G-T c.997C>A p.P333T Missense 3/6 - 1
1-19180972-G-A c.992C>T p.P331L Missense 3/6 - 1
1-19180973-G-A c.991C>T p.P331S Missense 3/6 - 1
1-19180976-C-T c.988G>A p.V330M Missense 3/6 - 3
1-19180987-G-C c.977C>G p.T326S Missense 3/6 - 1
1-19180993-C-T c.971G>A p.G324D Missense 3/6 - 1
1-19180994-C-A c.970G>T p.G324C Missense 3/6 - 1
1-19180995-C-A c.969G>T p.L323= Synonymous 3/6 - 1
1-19180995-C-G c.969G>C p.L323= Synonymous 3/6 - 1
1-19180995-C-T c.969G>A p.L323= Synonymous 3/6 - 1
1-19180997-G-A c.967C>T p.L323= Synonymous 3/6 - 1
1-19180998-G-A c.966C>T p.F322= Synonymous 3/6 - 2
1-19181005-C-G c.959G>C p.G320A Missense 3/6 - 1
1-19181005-C-T c.959G>A p.G320D Missense 3/6 - 1
1-19181013-G-A c.951C>T p.R317= Synonymous 3/6 - 1
1-19181013-G-C c.951C>G p.R317= Synonymous 3/6 - 1
1-19181013-G-T c.951C>A p.R317= Synonymous 3/6 - 1
1-19181014-C-A c.950G>T p.R317L Missense 3/6 - 1
1-19181014-C-G c.950G>C p.R317P Missense 3/6 - 6
1-19181014-C-T c.950G>A p.R317H Missense 3/6 - 2
1-19181015-G-C c.949C>G p.R317G Missense 3/6 - 18
1-19181016-C-T c.948G>A p.L316= Synonymous 3/6 - 1
1-19181021-C-T c.943G>A p.E315K Missense 3/6 - 6
1-19181023-G-T c.941C>A p.T314K Missense 3/6 - 1
1-19181024-T-C c.940A>G p.T314A Missense 3/6 - 1
1-19181025-G-A c.939C>T p.L313= Synonymous 3/6 - 1
1-19181027-G-T c.937C>A p.L313I Missense 3/6 - 1
1-19181031-G-T c.933C>A p.H311Q Missense 3/6 - 1
1-19181032-TG-GC c.931_932delinsGC p.H311A Missense 3/6 - 1
1-19181038-A-G c.926T>C p.V309A Missense 3/6 - 1
1-19181040-C-A c.924G>T p.P308= Synonymous 3/6 - 1
1-19181040-C-G c.924G>C p.P308= Synonymous 3/6 - 1
1-19181040-C-T c.924G>A p.P308= Synonymous 3/6 - 3
1-19181044-T-A c.920A>T p.D307V Missense 3/6 - 2
1-19181044-T-G c.920A>C p.D307A Missense 3/6 - 3
1-19181045-C-A c.919G>T p.D307Y Missense 3/6 - 1
1-19181045-C-T c.919G>A p.D307N Missense 3/6 - 2
1-19181046-G-A c.918C>T p.I306= Synonymous 3/6 - 2
1-19181049-G-A c.915C>T p.A305= Synonymous 3/6 - 1
1-19181051-C-T c.913G>A p.A305T Missense 3/6 - 2
1-19181057-A-C c.907T>G p.S303A Missense 3/6 - 2
1-19181059-T-G c.905A>C p.E302A Missense 3/6 - 6
1-19181060-C-G c.904G>C p.E302Q Missense 3/6 - 4
1-19181060-C-T c.904G>A p.E302K Missense 3/6 - 1
1-19181061-G-A c.903C>T p.S301= Synonymous 3/6 - 4
1-19181061-G-C c.903C>G p.S301= Synonymous 3/6 - 2
1-19181061-G-T c.903C>A p.S301= Synonymous 3/6 - 2
1-19181062-G-A c.902C>T p.S301F Missense 3/6 - 1
1-19181065-G-A c.899C>T p.A300V Missense 3/6 - 1
1-19181065-G-T c.899C>A p.A300D Missense 3/6 - 1
1-19181066-C-A c.898G>T p.A300S Missense 3/6 - 1
1-19181066-C-T c.898G>A p.A300T Missense 3/6 - 5
1-19181067-G-A c.897C>T p.I299= Synonymous 3/6 - 2
1-19181070-C-T c.894G>A p.W298* Nonsense 3/6 - 1
1-19181071-C-T c.893G>A p.W298* Nonsense 3/6 - 1
1-19181075-C-T c.889G>A p.V297M Missense 3/6 - 5
1-19181077-G-A c.887C>T p.A296V Missense 3/6 - 1
1-19181077-G-C c.887C>G p.A296G Missense 3/6 - 1
1-19181078-C-T c.886G>A p.A296T Missense 3/6 - 5
1-19181079-G-A c.885C>T p.G295= Synonymous 3/6 - 1
1-19181082-A-C c.882T>G p.T294= Synonymous 3/6 - 8
1-19181082-A-G c.882T>C p.T294= Synonymous 3/6 - 6
1-19181082-A-T c.882T>A p.T294= Synonymous 3/6 - 1
1-19181083-G-C c.881C>G p.T294S Missense 3/6 - 1
1-19181084-T-A c.880A>T p.T294S Missense 3/6 - 1
1-19181085-G-A c.879C>T p.F293= Synonymous 3/6 - 3
1-19181095-C-T c.869G>A p.R290H Missense 3/6 - 5
1-19181096-G-A c.868C>T p.R290C Missense 3/6 - 4
1-19181102-C-A c.862G>T p.V288L Missense 3/6 - 1
1-19181102-C-G c.862G>C p.V288L Missense 3/6 - 1
1-19181104-T-C c.860A>G p.E287G Missense 3/6 - 1
1-19181104-T-G c.860A>C p.E287A Missense 3/6 - 1
1-19181107-TT-GC c.856_857delinsGC p.N286A Missense 3/6 - 1
1-19181116-T-G c.848A>C p.H283P Missense 3/6 - 1
1-19181116-TG-GC c.847_848delinsGC p.H283A Missense 3/6 - 1
1-19181119-TA-GC c.844_845delinsGC p.Y282A Missense 3/6 - 1
1-19181127-CAG-AAA c.835_837delinsTTT p.L279F Missense 3/6 - 1
1-19181128-AG-GC c.835_836delinsGC p.L279A Missense 3/6 - 2
1-19181130-GTC-CTT c.832_834delinsAAG p.D278K Missense 3/6 - 2
1-19181131-T-G c.833A>C p.D278A Missense 3/6 - 4
1-19181132-C-T c.832G>A p.D278N Missense 3/6 - 1
1-19181133-G-A c.831C>T p.P277= Synonymous 3/6 - 3
1-19181133-G-C c.831C>G p.P277= Synonymous 3/6 - 2
1-19181133-GG-TT c.830_831delinsAA p.P277Q Missense 3/6 - 1
1-19181133-G-T c.831C>A p.P277= Synonymous 3/6 - 2
1-19181134-GG-CC c.829_830inv p.P277G Missense 3/6 - 1
1-19181135-G-A c.829C>T p.P277S Missense 3/6 - 1
1-19181135-G-C c.829C>G p.P277A Missense 3/6 - 2
1-19181136-C-A c.828G>T p.S276= Synonymous 3/6 - 1
1-19181136-C-G c.828G>C p.S276= Synonymous 3/6 - 1
1-19181136-C-T c.828G>A p.S276= Synonymous 3/6 - 1
1-19181137-G-A c.827C>T p.S276L Missense 3/6 - 2
1-19181144-C-T c.820G>A p.V274M Missense 3/6 - 3
1-19181145-G-A c.819C>T p.V273= Synonymous 3/6 - 1
1-19181147-C-A c.817G>T p.V273F Missense 3/6 - 1
1-19181150-C-A c.814G>T p.V272L Missense 3/6 - 1
1-19181153-C-T c.811G>A p.V271I Missense 3/6 - 1
1-19181155-C-T c.809G>A p.R270H Missense 3/6 - 4
1-19181156-G-A c.808C>T p.R270C Missense 3/6 - 3
1-19181157-C-A c.807G>T p.A269= Synonymous 3/6 - 1
1-19181157-C-G c.807G>C p.A269= Synonymous 3/6 - 1
1-19181157-C-T c.807G>A p.A269= Synonymous 3/6 - 1
1-19181158-G-A c.806C>T p.A269V Missense 3/6 - 1
1-19181159-C-T c.805G>A p.A269T Missense 3/6 - 3
1-19181164-C-T c.800G>A p.S267N Missense 3/6 - 3
1-19181164-CT-AA c.799_800delinsTT p.S267F Missense 3/6 - 1
1-19181169-C-T c.795G>A p.Q265= Synonymous 3/6 - 2
1-19181170-T-A c.794A>T p.Q265L Missense 3/6 - 1
1-19181170-T-C c.794A>G p.Q265R Missense 3/6 - 1
1-19181174-G-C c.790C>G p.L264V Missense 3/6 - 1
1-19181174-G-T c.790C>A p.L264M Missense 3/6 - 2
1-19181196-G-A c.768C>T p.R256= Synonymous 3/6 - 1
1-19181196-G-C c.768C>G p.R256= Synonymous 3/6 - 1
1-19181196-G-T c.768C>A p.R256= Synonymous 3/6 - 1
1-19181197-C-A c.767G>T p.R256L Missense 3/6 - 2
1-19181197-C-T c.767G>A p.R256H Missense 3/6 - 4
1-19181198-G-A c.766C>T p.R256C Missense 3/6 - 5
1-19181200-T-A c.764A>T p.Q255L Missense 3/6 - 1
1-19181203-C-G c.761G>C p.R254P Missense 3/6 - 1
1-19181212-G-A c.752C>T p.S251L Missense 3/6 - 1
1-19181214-C-T c.750G>A p.T250= Synonymous 3/6 - 1
1-19181215-G-A c.749C>T p.T250M Missense 3/6 - 2
1-19181216-T-C c.748A>G p.T250A Missense 3/6 - 1
1-19181217-C-T c.747G>A p.M249I Missense 3/6 - 1
1-19181221-T-A c.743A>T p.N248I Missense 3/6 - 4
1-19181223-C-G c.741G>C p.Q247H Missense 3/6 - 1
1-19181226-G-A c.738C>T p.N246= Synonymous 3/6 - 3
1-19181227-T-C c.737A>G p.N246S Missense 3/6 - 2
1-19181231-G-T c.733C>A p.P245T Missense 3/6 - 1
1-19181237-G-T c.727C>A p.L243M Missense 3/6 - 1
1-19181241-G-A c.723C>T p.P241= Synonymous 3/6 - 1
1-19181241-G-C c.723C>G p.P241= Synonymous 3/6 - 1
1-19181241-G-T c.723C>A p.P241= Synonymous 3/6 - 1
1-19181246-G-C c.718C>G p.L240V Missense 3/6 - 1
1-19181248-G-A c.716C>T p.T239M Missense 3/6 - 3
1-19181252-C-T c.712G>A p.E238K Missense 3/6 - 3
1-19181253-C-A c.711G>T p.Q237H Missense 3/6 - 1
1-19181255-G-A c.709C>T p.Q237* Nonsense 3/6 - 1
1-19181259-G-T c.705C>A p.A235= Synonymous 3/6 - 1
1-19181261-C-T c.703G>A p.A235T Missense 3/6 - 2
1-19181262-G-A c.702C>T p.I234= Synonymous 3/6 - 2
1-19181262-G-T c.702C>A p.I234= Synonymous 3/6 - 1
1-19181264-T-C c.700A>G p.I234V Missense 3/6 - 1
1-19181266-C-T c.698G>A p.C233Y Missense 3/6 - 2
1-19181270-T-C c.694A>G p.I232V Missense 3/6 - 1
1-19181272-T-C c.692A>G p.D231G Missense 3/6 - 1
1-19181273-C-T c.691G>A p.D231N Missense 3/6 - 2
1-19181274-G-A c.690C>T p.R230= Synonymous 3/6 - 1
1-19181275-C-T c.689G>A p.R230H Missense 3/6 - 3
1-19181276-G-A c.688C>T p.R230C Missense 3/6 - 2
1-19181278-C-T c.686G>A p.R229Q Missense 3/6 - 2
1-19181283-C-A c.681G>T p.V227= Synonymous 3/6 - 1
1-19181284-A-G c.680T>C p.V227A Missense 3/6 - 1
1-19181285-C-T c.679G>A p.V227M Missense 3/6 - 2
1-19181286-G-A c.678C>T p.R226= Synonymous 3/6 - 5
1-19181286-G-C c.678C>G p.R226= Synonymous 3/6 - 3
1-19181286-G-T c.678C>A p.R226= Synonymous 3/6 - 3
1-19181287-C-T c.677G>A p.R226H Missense 3/6 - 6
1-19181288-G-A c.676C>T p.R226C Missense 3/6 - 1
1-19181291-C-T c.673G>A p.E225K Missense 3/6 - 1
1-19181304-G-A c.660C>T p.G220= Synonymous 3/6 - 1
1-19181305-C-T c.659G>A p.G220D Missense 3/6 - 1
1-19181306-C-T c.658G>A p.G220S Missense 3/6 - 1
1-19181307-A-C c.657T>G p.N219K Missense 3/6 - 2
1-19181307-A-T c.657T>A p.N219K Missense 3/6 - 2
1-19181313-G-A c.651C>T p.R217= Synonymous 3/6 - 3
1-19181313-G-C c.651C>G p.R217= Synonymous 3/6 - 2
1-19181313-GCG-CCA c.649_651delinsTGG p.R217W Missense 3/6 - 1
1-19181313-G-T c.651C>A p.R217= Synonymous 3/6 - 2
1-19181314-CG-GC c.649_650delinsGC p.R217A Missense 3/6 - 1
1-19181314-CG-TC c.649_650delinsGA p.R217D Missense 3/6 - 1
1-19181315-G-A c.649C>T p.R217C Missense 3/6 - 3
1-19181317-C-T c.647G>A p.G216D Missense 3/6 - 1
1-19181319-A-C c.645T>G p.Y215* Nonsense 3/6 - 1
1-19181319-A-T c.645T>A p.Y215* Nonsense 3/6 - 1
1-19181319-AT-CC c.644_645delinsGG p.Y215W Missense 3/6 - 1
1-19181320-T-A c.644A>T p.Y215F Missense 3/6 - 2
1-19181320-TA-GC c.643_644delinsGC p.Y215A Missense 3/6 - 4
1-19181321-A-G c.643T>C p.Y215H Missense 3/6 - 1
1-19181322-G-A c.642C>T p.T214= Synonymous 3/6 - 1
1-19181322-G-C c.642C>G p.T214= Synonymous 3/6 - 1
1-19181322-G-T c.642C>A p.T214= Synonymous 3/6 - 1
1-19181329-C-T c.635G>A p.S212N Missense 3/6 - 1
1-19181332-C-T c.632G>A p.S211N Missense 3/6 - 1
1-19181333-T-C c.631A>G p.S211G Missense 3/6 - 1
1-19181336-C-A c.628G>T p.V210L Missense 3/6 - 2
1-19181336-C-G c.628G>C p.V210L Missense 3/6 - 2
1-19181338-A-G c.626T>C p.L209P Missense 3/6 - 1
1-19181343-A-G c.621T>C p.I207= Synonymous 3/6 - 1
1-19181343-A-T c.621T>A p.I207= Synonymous 3/6 - 1
1-19181346-G-A c.618C>T p.I206= Synonymous 3/6 - 2
1-19181355-C-A c.609G>T p.W203C Missense 3/6 - 2
1-19181355-C-G c.609G>C p.W203C Missense 3/6 - 1
1-19181355-C-T c.609G>A p.W203* Nonsense 3/6 - 5
1-19181356-C-T c.608G>A p.W203* Nonsense 3/6 - 2
1-19181357-A-G c.607T>C p.W203R Missense 3/6 - 2
1-19181357-A-T c.607T>A p.W203R Missense 3/6 - 2
1-19181360-G-A c.604C>T p.R202C Missense 3/6 - 4
1-19181361-G-A c.603C>T p.F201= Synonymous 3/6 - 1
1-19181362-A-G c.602T>C p.F201S Missense 3/6 - 1
1-19181364-G-C c.600C>G p.H200Q Missense 3/6 - 1
1-19181364-G-T c.600C>A p.H200Q Missense 3/6 - 1
1-19181369-G-A c.595C>T p.L199= Synonymous 3/6 - 1
1-19181370-C-A c.594G>T p.M198I Missense 3/6 - 1
1-19181380-A-G c.584T>C p.V195A Missense 3/6 - 3
1-19181381-C-T c.583G>A p.V195M Missense 3/6 - 1
1-19181383-A-G c.581T>C p.M194T Missense 3/6 - 1
1-19181384-T-C c.580A>G p.M194V Missense 3/6 - 2
1-19181387-C-T c.577G>A p.A193T Missense 3/6 - 1
1-19181389-T-G c.575A>C p.E192A Missense 3/6 - 1
1-19181390-C-T c.574G>A p.E192K Missense 3/6 - 2
1-19181391-G-A c.573C>T p.I191= Synonymous 3/6 - 1
1-19181391-G-T c.573C>A p.I191= Synonymous 3/6 - 1
1-19181393-T-C c.571A>G p.I191V Missense 3/6 - 53
1-19181395-TG-GC c.568_569delinsGC p.H190A Missense 3/6 - 2
1-19181398-TG-GC c.565_566delinsGC p.H189A Missense 3/6 - 1
1-19181399-G-T c.565C>A p.H189N Missense 3/6 - 1
1-19181401-T-C c.563A>G p.D188G Missense 3/6 - 1
1-19181402-C-T c.562G>A p.D188N Missense 3/6 - 1
1-19181404-G-A c.560C>T p.A187V Missense 3/6 - 1
1-19181407-CT-AG c.556_557inv p.S186L Missense 3/6 - 1
1-19181411-G-A c.553C>T p.P185S Missense 3/6 - 1
1-19181413-G-T c.551C>A p.T184K Missense 3/6 - 1
1-19181419-C-T c.545G>A p.R182H Missense 3/6 - 2
1-19181421-C-A c.543G>T p.L181= Synonymous 3/6 - 3
1-19181421-C-G c.543G>C p.L181= Synonymous 3/6 - 3
1-19181421-C-T c.543G>A p.L181= Synonymous 3/6 - 4
1-19181423-G-A c.541C>T p.L181= Synonymous 3/6 - 3
1-19181422-A-G c.542T>C p.L181P Missense 3/6 - 1
1-19181428-G-A c.536C>T p.A179V Missense 3/6 - 1
1-19181429-C-T c.535G>A p.A179T Missense 3/6 - 1
1-19181430-C-A c.534G>T p.P178= Synonymous 3/6 - 1
1-19181430-C-G c.534G>C p.P178= Synonymous 3/6 - 1
1-19181430-C-T c.534G>A p.P178= Synonymous 3/6 - 2
1-19181440-A-G c.524T>C p.V175A Missense 3/6 - 1
1-19181441-C-T c.523G>A p.V175M Missense 3/6 - 1
1-19181442-C-T c.522G>A p.K174= Synonymous 3/6 - 2
1-19181446-TC-CG c.517_518delinsCG p.D173R Missense 3/6 - 1
1-19181446-T-G c.518A>C p.D173A Missense 3/6 - 1
1-19181448-TCG-GTC c.514_516delinsGAC p.R172D Missense 3/6 - 1
1-19181449-CG-GC c.514_515delinsGC p.R172A Missense 3/6 - 1
1-19181449-C-T c.515G>A p.R172Q Missense 3/6 - 1
1-19181450-G-C c.514C>G p.R172G Missense 3/6 - 1
1-19181452-AG-GA c.511_512delinsTC p.L171S Missense 3/6 - 1
1-19181456-C-T c.508G>A p.E170K Missense 3/6 - 3
1-19181457-A-C c.507T>G p.D169E Missense 3/6 - 1
1-19181457-A-T c.507T>A p.D169E Missense 3/6 - 1
1-19181459-C-T c.505G>A p.D169N Missense 3/6 - 5
1-19181460-G-A c.504C>T p.S168= Synonymous 3/6 - 1
1-19181461-C-A c.503G>T p.S168I Missense 3/6 - 1
1-19181463-G-C c.501C>G p.I167M Missense 3/6 - 1
1-19181468-C-A c.496G>T p.A166S Missense 3/6 - 2
1-19181469-G-A c.495C>T p.S165= Synonymous 3/6 - 3
1-19181470-C-A c.494G>T p.S165I Missense 3/6 - 2
1-19181470-CT-GC c.493_494delinsGC p.S165A Missense 3/6 - 3
1-19181473-TA-GC c.490_491delinsGC p.Y164A Missense 3/6 - 1
1-19181475-G-A c.489C>T p.T163= Synonymous 3/6 - 1
1-19181475-G-C c.489C>G p.T163= Synonymous 3/6 - 1
1-19181475-G-T c.489C>A p.T163= Synonymous 3/6 - 1
1-19181476-G-A c.488C>T p.T163I Missense 3/6 - 1
1-19183829-G-T c.479C>A p.P160Q Missense 2/6 - 1
1-19183830-G-A c.478C>T p.P160S Missense 2/6 - 1
1-19183834-G-A c.474C>T p.L158= Synonymous 2/6 - 2
1-19183835-A-C c.473T>G p.L158R Missense 2/6 - 1
1-19183835-A-G c.473T>C p.L158P Missense 2/6 - 2
1-19183843-G-A c.465C>T p.S155= Synonymous 2/6 - 1
1-19183844-G-A c.464C>T p.S155F Missense 2/6 - 3
1-19183844-GA-TT c.463_464delinsAA p.S155N Missense 2/6 - 2
1-19183852-G-C c.456C>G p.N152K Missense 2/6 - 2
1-19183852-G-T c.456C>A p.N152K Missense 2/6 - 2
1-19183854-T-A c.454A>T p.N152Y Missense 2/6 - 2
1-19183857-C-T c.451G>A p.A151T Missense 2/6 - 2
1-19183860-C-T c.448G>A p.V150M Missense 2/6 - 1
1-19183862-G-A c.446C>T p.T149I Missense 2/6 - 1
1-19183863-T-C c.445A>G p.T149A Missense 2/6 - 2
1-19183865-A-G c.443T>C p.M148T Missense 2/6 - 1
1-19183869-C-A c.439G>T p.V147F Missense 2/6 - 1
1-19183871-G-A c.437C>T p.S146F Missense 2/6 - 1
1-19183874-TC-CT c.433_434delinsAG p.E145R Missense 2/6 - 1
1-19183874-T-G c.434A>C p.E145A Missense 2/6 - 1
1-19183876-G-A c.432C>T p.S144= Synonymous 2/6 - 1
1-19183877-GA-AC c.430_431delinsGT p.S144V Missense 2/6 - 1
1-19183878-A-C c.430T>G p.S144A Missense 2/6 - 5
1-19183880-TT-GC c.427_428delinsGC p.N143A Missense 2/6 - 1
1-19183882-G-C c.426C>G p.D142E Missense 2/6 - 1
1-19183882-G-T c.426C>A p.D142E Missense 2/6 - 1
1-19183883-TC-CG c.424_425delinsCG p.D142R Missense 2/6 - 1
1-19183883-T-G c.425A>C p.D142A Missense 2/6 - 3
1-19183884-C-T c.424G>A p.D142N Missense 2/6 - 2
1-19183886-G-T c.422C>A p.P141H Missense 2/6 - 1
1-19183891-A-G c.417T>C p.I139= Synonymous 2/6 - 1
1-19183894-G-A c.414C>T p.V138= Synonymous 2/6 - 1
1-19183894-GAC-CAT c.412_414delinsATG p.V138M Missense 2/6 - 1
1-19183894-G-C c.414C>G p.V138= Synonymous 2/6 - 1
1-19183894-G-T c.414C>A p.V138= Synonymous 2/6 - 1
1-19183901-A-G c.407T>C p.V136A Missense 2/6 - 2
1-19183902-C-G c.406G>C p.V136L Missense 2/6 - 1
1-19183902-C-T c.406G>A p.V136M Missense 2/6 - 2
1-19183907-C-T c.401G>A p.R134H Missense 2/6 - 4
1-19183908-G-A c.400C>T p.R134C Missense 2/6 - 3
1-19183910-G-A c.398C>T p.S133F Missense 2/6 - 2
1-19183910-G-T c.398C>A p.S133Y Missense 2/6 - 2
1-19183913-A-C c.395T>G p.I132S Missense 2/6 - 1
1-19183914-T-C c.394A>G p.I132V Missense 2/6 - 1
1-19183922-C-T c.386G>A p.S129N Missense 2/6 - 1
1-19183922-CT-GG c.385_386delinsCC p.S129P Missense 2/6 - 1
1-19183925-T-C c.383A>G p.Y128C Missense 2/6 - 1
1-19183928-T-C c.380A>G p.D127G Missense 2/6 - 1
1-19183943-A-G c.365T>C p.L122P Missense 2/6 - 1
1-19183945-G-A c.363C>T p.L121= Synonymous 2/6 - 1
1-19183945-G-C c.363C>G p.L121= Synonymous 2/6 - 1
1-19183945-G-T c.363C>A p.L121= Synonymous 2/6 - 1
1-19183947-G-A c.361C>T p.L121F Missense 2/6 - 1
1-19183953-C-T c.355G>A p.D119N Missense 2/6 - 1
1-19183954-C-A c.354G>T p.E118D Missense 2/6 - 1
1-19183954-C-G c.354G>C p.E118D Missense 2/6 - 1
1-19183958-TG-GC c.349_350delinsGC p.H117A Missense 2/6 - 1
1-19183961-G-A c.347C>T p.A116V Missense 2/6 - 1
1-19183965-G-A c.343C>T p.L115= Synonymous 2/6 - 1
1-19183968-A-C c.340T>G p.F114V Missense 2/6 - 1
1-19183973-A-T c.335T>A p.L112H Missense 2/6 - 1
1-19183977-C-T c.331G>A p.V111M Missense 2/6 - 2
1-19183978-C-T c.330G>A p.P110= Synonymous 2/6 - 3
1-19183979-G-A c.329C>T p.P110L Missense 2/6 - 1
1-19183983-G-A c.325C>T p.Q109* Nonsense 2/6 - 1
1-19183993-G-A c.315C>T p.S105= Synonymous 2/6 - 2
1-19183993-G-C c.315C>G p.S105= Synonymous 2/6 - 2
1-19183993-G-T c.315C>A p.S105= Synonymous 2/6 - 2
1-19183994-G-A c.314C>T p.S105F Missense 2/6 - 1
1-19184000-T-A c.308A>T p.Y103F Missense 2/6 - 1
1-19184000-TA-GC c.307_308delinsGC p.Y103A Missense 2/6 - 3
1-19184002-G-T c.306C>A p.C102* Nonsense 2/6 - 1
1-19184009-T-G c.299A>C p.D100A Missense 2/6 - 1
1-19184014-G-A c.294C>T p.I98= Synonymous 2/6 - 3
1-19184015-A-G c.293T>C p.I98T Missense 2/6 - 1
1-19184016-T-G c.292A>C p.I98L Missense 2/6 - 1
1-19184017-C-A c.291G>T p.E97D Missense 2/6 - 3
1-19184017-C-G c.291G>C p.E97D Missense 2/6 - 3
1-19184020-A-C c.288T>G p.Y96* Nonsense 2/6 - 2
1-19184020-A-T c.288T>A p.Y96* Nonsense 2/6 - 2
1-19184024-C-T c.284G>A p.G95D Missense 2/6 - 1
1-19184026-C-A c.282G>T p.L94= Synonymous 2/6 - 1
1-19184026-C-G c.282G>C p.L94= Synonymous 2/6 - 1
1-19184026-C-T c.282G>A p.L94= Synonymous 2/6 - 1
1-19184028-G-A c.280C>T p.L94= Synonymous 2/6 - 1
1-19184030-A-G c.278T>C p.L93P Missense 2/6 - 1
1-19184031-G-T c.277C>A p.L93M Missense 2/6 - 2
1-19184039-G-T c.269C>A p.P90H Missense 2/6 - 1
1-19184047-G-A c.261C>T p.S87= Synonymous 2/6 - 1
1-19184050-G-A c.258C>T p.S86= Synonymous 2/6 - 1
1-19184059-G-C c.249C>G p.N83K Missense 2/6 - 2
1-19184059-G-T c.249C>A p.N83K Missense 2/6 - 2
1-19184063-A-G c.245T>C p.I82T Missense 2/6 - 1
1-19184067-C-T c.241G>A p.E81K Missense 2/6 - 2
1-19184070-C-T c.238G>A p.E80K Missense 2/6 - 3
1-19184074-C-A c.234G>T p.A78= Synonymous 2/6 - 2
1-19184074-C-G c.234G>C p.A78= Synonymous 2/6 - 1
1-19184074-CGC-ACA c.232_234delinsTGT p.A78C Missense 2/6 - 1
1-19184074-C-T c.234G>A p.A78= Synonymous 2/6 - 1
1-19184075-G-A c.233C>T p.A78V Missense 2/6 - 1
1-19184075-GC-TT c.232_233delinsAA p.A78K Missense 2/6 - 1
1-19184077-A-G c.231T>C p.F77= Synonymous 2/6 - 7
1-19184081-C-A c.227G>T p.R76L Missense 2/6 - 1
1-19184082-G-A c.226C>T p.R76C Missense 2/6 - 1
1-19184086-G-A c.222C>T p.A74= Synonymous 2/6 - 3
1-19184089-C-T c.219G>A p.Q73= Synonymous 2/6 - 2
1-19184092-C-A c.216G>T p.M72I Missense 2/6 - 1
1-19184092-C-G c.216G>C p.M72I Missense 2/6 - 1
1-19184092-C-T c.216G>A p.M72I Missense 2/6 - 1
1-19184094-T-A c.214A>T p.M72L Missense 2/6 - 1
1-19184094-T-G c.214A>C p.M72L Missense 2/6 - 1
1-19184095-G-A c.213C>T p.L71= Synonymous 2/6 - 2
1-19184102-T-A c.206A>T p.Y69F Missense 2/6 - 1
1-19184106-C-G c.202G>C p.G68R Missense 2/6 - 1
1-19184107-TA-GC c.200_201delinsGC p.I67S Missense 2/6 - 1
1-19184107-T-C c.201A>G p.I67M Missense 2/6 - 1
1-19184108-AT-GC c.199_200delinsGC p.I67A Missense 2/6 - 1
1-19184109-T-A c.199A>T p.I67L Missense 2/6 - 1
1-19184109-T-G c.199A>C p.I67L Missense 2/6 - 1
1-19184110-C-T c.198G>A p.V66= Synonymous 2/6 - 1
1-19184113-CTT-GTC c.193_195delinsGAC p.K65D Missense 2/6 - 1
1-19184114-TT-GC c.193_194delinsGC p.K65A Missense 2/6 - 3
1-19184121-C-T c.187G>A p.E63K Missense 2/6 - 1
1-19185977-T-C c.178A>G p.K60E Missense 1/6 - 1
1-19185989-C-A c.166G>T p.V56L Missense 1/6 - 1
1-19185989-C-G c.166G>C p.V56L Missense 1/6 - 1
1-19185989-C-T c.166G>A p.V56M Missense 1/6 - 1
1-19185993-C-T c.162G>A p.L54= Synonymous 1/6 - 1
1-19185996-G-A c.159C>T p.F53= Synonymous 1/6 - 3
1-19185997-A-C c.158T>G p.F53C Missense 1/6 - 1
1-19186008-AAC-CAT c.145_147delinsATG p.V49M Missense 1/6 - 1
1-19186009-A-G c.146T>C p.V49A Missense 1/6 - 1
1-19186013-T-C c.142A>G p.I48V Missense 1/6 - 3
1-19186016-C-T c.139G>A p.G47S Missense 1/6 - 1
1-19186020-C-A c.135G>T p.M45I Missense 1/6 - 2
1-19186020-C-G c.135G>C p.M45I Missense 1/6 - 2
1-19186020-C-T c.135G>A p.M45I Missense 1/6 - 3
1-19186021-A-T c.134T>A p.M45K Missense 1/6 - 1
1-19186024-TT-GC c.130_131delinsGC p.N44A Missense 1/6 - 1
1-19186027-G-T c.128C>A p.A43D Missense 1/6 - 2
1-19186030-T-C c.125A>G p.H42R Missense 1/6 - 1
1-19186032-G-A c.123C>T p.L41= Synonymous 1/6 - 1
1-19186032-G-C c.123C>G p.L41= Synonymous 1/6 - 2
1-19186032-G-T c.123C>A p.L41= Synonymous 1/6 - 1
1-19186034-G-A c.121C>T p.L41F Missense 1/6 - 3
1-19186036-G-A c.119C>T p.S40F Missense 1/6 - 2
1-19186037-A-C c.118T>G p.S40A Missense 1/6 - 3
1-19186037-A-T c.118T>A p.S40T Missense 1/6 - 1
1-19186046-C-T c.109G>A p.G37S Missense 1/6 - 2
1-19186049-C-T c.106G>A p.G36S Missense 1/6 - 2
1-19186053-G-T c.102C>A p.L34= Synonymous 1/6 - 2
1-19186056-G-A c.99C>T p.Y33= Synonymous 1/6 - 3
1-19186056-G-C c.99C>G p.Y33* Nonsense 1/6 - 1
1-19186061-C-T c.94G>A p.D32N Missense 1/6 - 3
1-19186062-C-A c.93G>T p.G31= Synonymous 1/6 - 2
1-19186062-C-G c.93G>C p.G31= Synonymous 1/6 - 2
1-19186062-C-T c.93G>A p.G31= Synonymous 1/6 - 2
1-19186064-C-A c.91G>T p.G31W Missense 1/6 - 1
1-19186068-C-T c.87G>A p.L29= Synonymous 1/6 - 1
1-19186070-G-A c.85C>T p.L29= Synonymous 1/6 - 1
1-19186077-G-C c.78C>G p.D26E Missense 1/6 - 2
1-19186077-G-T c.78C>A p.D26E Missense 1/6 - 2
1-19186079-C-T c.76G>A p.D26N Missense 1/6 - 1
1-19186080-C-T c.75G>A p.S25= Synonymous 1/6 - 2
1-19186084-TT-GC c.70_71delinsGC p.N24A Missense 1/6 - 1
1-19186087-T-G c.68A>C p.E23A Missense 1/6 - 1
1-19186088-C-G c.67G>C p.E23Q Missense 1/6 - 3
1-19186091-C-A c.64G>T p.A22S Missense 1/6 - 1
1-19186092-C-A c.63G>T p.P21= Synonymous 1/6 - 1
1-19186092-C-G c.63G>C p.P21= Synonymous 1/6 - 1
1-19186092-C-T c.63G>A p.P21= Synonymous 1/6 - 1
1-19186093-G-A c.62C>T p.P21L Missense 1/6 - 3
1-19186095-C-A c.60G>T p.E20D Missense 1/6 - 2
1-19186095-C-G c.60G>C p.E20D Missense 1/6 - 3
1-19186098-A-C c.57T>G p.A19= Synonymous 1/6 - 1
1-19186098-A-G c.57T>C p.A19= Synonymous 1/6 - 1
1-19186098-AGC-CAT c.55_57delinsATG p.A19M Missense 1/6 - 1
1-19186098-AGC-CCA c.55_57delinsTGG p.A19W Missense 1/6 - 1
1-19186098-AG-CT c.56_57inv p.A19E Missense 1/6 - 1
1-19186098-A-T c.57T>A p.A19= Synonymous 1/6 - 1
1-19186099-G-C c.56C>G p.A19G Missense 1/6 - 1
1-19186100-C-A c.55G>T p.A19S Missense 1/6 - 1
1-19186107-C-T c.48G>A p.W16* Nonsense 1/6 - 1
1-19186110-T-C c.45A>G p.L15= Synonymous 1/6 - 1
1-19186113-G-A c.42C>T p.L14= Synonymous 1/6 - 2
1-19186113-G-C c.42C>G p.L14= Synonymous 1/6 - 1
1-19186113-G-T c.42C>A p.L14= Synonymous 1/6 - 1
1-19186115-G-A c.40C>T p.L14F Missense 1/6 - 1
1-19186115-G-C c.40C>G p.L14V Missense 1/6 - 1
1-19186117-A-C c.38T>G p.F13C Missense 1/6 - 1
1-19186120-A-T c.35T>A p.F12Y Missense 1/6 - 7
1-19186122-C-A c.33G>T p.L11= Synonymous 1/6 - 1
1-19186125-G-A c.30C>T p.S10= Synonymous 1/6 - 2
1-19186126-G-A c.29C>T p.S10F Missense 1/6 - 1
1-19186128-G-A c.27C>T p.S9= Synonymous 1/6 - 1
1-19186128-G-C c.27C>G p.S9= Synonymous 1/6 - 1
1-19186128-G-T c.27C>A p.S9= Synonymous 1/6 - 2
1-19186129-G-C c.26C>G p.S9C Missense 1/6 - 23
1-19186136-T-C c.19A>G p.T7A Missense 1/6 - 1
1-19186141-G-T c.14C>A p.A5E Missense 1/6 - 1
1-19186143-C-A c.12G>T p.R4S Missense 1/6 - 1
1-19186143-C-G c.12G>C p.R4S Missense 1/6 - 1
1-19186146-G-C c.9C>G p.P3= Synonymous 1/6 - 1
1-19186147-G-T c.8C>A p.P3H Missense 1/6 - 2
1-19186151-C-T c.4G>A p.G2R Missense 1/6 - 1