POLE DNA polymerase epsilon, catalytic subunit

Annotation transcript: NM_006231.4

1975 unique variant annotations were identified in 704 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
12-133200748-T-C c.*535A>G - 3-UTRSNV 49/49 - 1
12-133201284-T-C c.6860A>G p.*2287Wext*26 Missense 49/49 - 1
12-133201290-C-T c.6854G>A p.G2285D Missense 49/49 - 2
12-133201291-C-A c.6853G>T p.G2285C Missense 49/49 - 1
12-133201302-T-C c.6842A>G p.N2281S Missense 49/49 - 1
12-133201309-G-A c.6835C>T p.Q2279* Nonsense 49/49 - 1
12-133201313-C-A c.6831G>T p.L2277= Synonymous 49/49 - 1
12-133201313-C-T c.6831G>A p.L2277= Synonymous 49/49 - 1
12-133201313-C-G c.6831G>C p.L2277= Synonymous 49/49 - 1
12-133201315-G-A c.6829C>T p.L2277= Synonymous 49/49 - 1
12-133201316-C-A c.6828G>T p.W2276C Missense 49/49 - 1
12-133201317-C-T c.6827G>A p.W2276* Nonsense 49/49 - 1
12-133201316-C-T c.6828G>A p.W2276* Nonsense 49/49 - 1
12-133201321-C-G c.6823G>C p.E2275Q Missense 49/49 - 1
12-133201324-G-C c.6820C>G p.L2274V Missense 49/49 - 1
12-133201327-T-A c.6817A>T p.T2273S Missense 49/49 - 1
12-133201335-A-T c.6809T>A p.L2270H Missense 49/49 - 1
12-133201336-G-A c.6808C>T p.L2270F Missense 49/49 - 1
12-133201338-T-C c.6806A>G p.Y2269C Missense 49/49 - 1
12-133201341-G-A c.6803C>T p.S2268L Missense 49/49 - 1
12-133201348-C-A c.6796G>T p.G2266C Missense 49/49 - 1
12-133201349-G-T c.6795C>A p.Y2265* Nonsense 49/49 - 1
12-133201349-G-C c.6795C>G p.Y2265* Nonsense 49/49 - 1
12-133201355-C-T c.6789G>A p.Q2263= Synonymous 49/49 - 1
12-133201357-G-T c.6787C>A p.Q2263K Missense 49/49 - 1
12-133201360-C-A c.6784G>T p.A2262S Missense 49/49 - 1
12-133201369-G-A c.6775C>T p.R2259W Missense 49/49 - 4
12-133201377-C-T c.6767G>A p.G2256E Missense 49/49 - 1
12-133201378-C-A c.6766G>T p.G2256* Nonsense 49/49 - 1
12-133201379-G-C c.6765C>G p.I2255M Missense 49/49 - 1
12-133201381-T-A c.6763A>T p.I2255F Missense 49/49 - 1
12-133201388-C-G c.6756G>C p.M2252I Missense 49/49 - 1
12-133201388-C-T c.6756G>A p.M2252I Missense 49/49 - 1
12-133201388-C-A c.6756G>T p.M2252I Missense 49/49 - 1
12-133201390-T-TA c.6753_6754insT p.M2252Yfs*52 Frameshift 49/49 - 1
12-133201495-G-A c.6743C>T p.T2248I Missense 48/49 - 1
12-133201500-G-C c.6738C>G p.I2246M Missense 48/49 - 1
12-133201504-G-T c.6734C>A p.T2245N Missense 48/49 - 1
12-133201508-G-A c.6730C>T p.L2244F Missense 48/49 - 1
12-133201511-C-A c.6727G>T p.A2243S Missense 48/49 - 1
12-133201511-C-T c.6727G>A p.A2243T Missense 48/49 - 1
12-133201520-C-T c.6718G>A p.G2240R Missense 48/49 - 1
12-133201520-C-G c.6718G>C p.G2240R Missense 48/49 - 1
12-133201522-G-A c.6716C>T p.A2239V Missense 48/49 - 5
12-133201523-C-T c.6715G>A p.A2239T Missense 48/49 - 1
12-133201525-CA-GC c.6712_6713delinsGC p.C2238A Missense 48/49 - 1
12-133201526-A-T c.6712T>A p.C2238S Missense 48/49 - 1
12-133201525-C-G c.6713G>C p.C2238S Missense 48/49 - 1
12-133201532-A-T c.6706T>A p.C2236S Missense 48/49 - 1
12-133201531-C-G c.6707G>C p.C2236S Missense 48/49 - 1
12-133201534-T-C c.6704A>G p.Y2235C Missense 48/49 - 1
12-133201539-A-C c.6699T>G p.P2233= Synonymous 48/49 - 1
12-133201539-A-T c.6699T>A p.P2233= Synonymous 48/49 - 1
12-133201539-A-G c.6699T>C p.P2233= Synonymous 48/49 - 1
12-133201540-G-T c.6698C>A p.P2233H Missense 48/49 - 1
12-133201546-C-T c.6692G>A p.S2231N Missense 48/49 - 1
12-133201552-T-G c.6686A>C p.E2229A Missense 48/49 - 1
12-133201562-C-A c.6676G>T p.G2226W Missense 48/49 - 1
12-133201562-C-T c.6676G>A p.G2226R Missense 48/49 - 1
12-133201562-C-G c.6676G>C p.G2226R Missense 48/49 - 1
12-133201565-G-A c.6673C>T p.R2225C Missense 48/49 - 1
12-133201568-A-G c.6670T>C p.C2224R Missense 48/49 - 1
12-133201568-A-T c.6670T>A p.C2224S Missense 48/49 - 1
12-133201567-C-G c.6671G>C p.C2224S Missense 48/49 - 1
12-133201570-T-C c.6668A>G p.K2223R Missense 48/49 - 2
12-133201577-A-T c.6661T>A p.C2221S Missense 48/49 - 1
12-133201576-C-G c.6662G>C p.C2221S Missense 48/49 - 1
12-133201947-T-C c.6657+284A>G - IntronicSNV - 47/48 3
12-133202004-C-T c.6657+227G>A - IntronicSNV - 47/48 1
12-133202239-G-A c.6649C>T p.Q2217* Nonsense 47/49 - 2
12-133202242-G-C c.6646C>G p.L2216V Missense 47/49 - 1
12-133202250-G-A c.6638C>T p.A2213V Missense 47/49 - 1
12-133202251-C-T c.6637G>A p.A2213T Missense 47/49 - 1
12-133202257-GCTT-G c.6628_6630del p.K2210del InFrameDeletion 47/49 - 1
12-133202265-T-C c.6623A>G p.Q2208R Missense 47/49 - 1
12-133202265-CT-C c.6623del p.Q2208Rfs*4 Frameshift 47/49 - 1
12-133202283-G-A c.6605C>T p.T2202M Missense 47/49 - 3
12-133202288-C-G c.6600G>C p.E2200D Missense 47/49 - 1
12-133202288-C-A c.6600G>T p.E2200D Missense 47/49 - 1
12-133202289-T-C c.6599A>G p.E2200G Missense 47/49 - 1
12-133202293-T-A c.6595A>T p.I2199F Missense 47/49 - 2
12-133202301-G-A c.6587C>T p.S2196F Missense 47/49 - 1
12-133202314-C-T c.6574G>A p.A2192T Missense 47/49 - 1
12-133202338-G-A c.6550C>T p.Q2184* Nonsense 47/49 - 1
12-133202340-G-A c.6548C>T p.P2183L Missense 47/49 - 1
12-133202349-G-A c.6539C>T p.A2180V Missense 47/49 - 4
12-133202356-C-T c.6532G>A p.D2178N Missense 47/49 - 1
12-133202707-GA-AT c.6526_6527delinsAT p.S2176I Missense 46/49 - 1
12-133202707-G-T c.6527C>A p.S2176* Nonsense 46/49 - 1
12-133202713-G-A c.6521C>T p.S2174F Missense 46/49 - 1
12-133202714-AAG-A c.6518_6519del p.S2173Ffs*130 Frameshift 46/49 - 1
12-133202720-C-T c.6514G>A p.D2172N Missense 46/49 - 1
12-133202720-C-G c.6514G>C p.D2172H Missense 46/49 - 1
12-133202726-A-G c.6508T>C p.C2170R Missense 46/49 - 1
12-133202730-G-C c.6504C>G p.D2168E Missense 46/49 - 1
12-133202730-G-T c.6504C>A p.D2168E Missense 46/49 - 1
12-133202732-C-T c.6502G>A p.D2168N Missense 46/49 - 1
12-133202737-T-C c.6497A>G p.D2166G Missense 46/49 - 1
12-133202738-C-A c.6496G>T p.D2166Y Missense 46/49 - 1
12-133202738-C-T c.6496G>A p.D2166N Missense 46/49 - 1
12-133202740-C-T c.6494G>A p.R2165H Missense 46/49 - 4
12-133202741-G-A c.6493C>T p.R2165C Missense 46/49 - 1
12-133202743-C-T c.6491G>A p.C2164Y Missense 46/49 - 1
12-133202758-C-T c.6476G>A p.R2159H Missense 46/49 - 2
12-133202768-C-T c.6466G>A p.V2156I Missense 46/49 - 1
12-133202773-G-C c.6461C>G p.P2154R Missense 46/49 - 1
12-133202773-G-T c.6461C>A p.P2154H Missense 46/49 - 1
12-133202774-G-A c.6460C>T p.P2154S Missense 46/49 - 1
12-133202780-C-T c.6454G>A p.V2152M Missense 46/49 - 3
12-133202782-T-C c.6452A>G p.Y2151C Missense 46/49 - 1
12-133202788-C-T c.6446G>A p.R2149H Missense 46/49 - 2
12-133202789-G-A c.6445C>T p.R2149C Missense 46/49 - 1
12-133202794-G-T c.6440C>A p.P2147H Missense 46/49 - 1
12-133202797-T-G c.6437A>C p.D2146A Missense 46/49 - 1
12-133202798-C-A c.6436G>T p.D2146Y Missense 46/49 - 1
12-133202801-G-A c.6433C>T p.R2145* Nonsense 46/49 - 2
12-133202806-T-C c.6428A>G p.Q2143R Missense 46/49 - 1
12-133202806-T-A c.6428A>T p.Q2143L Missense 46/49 - 1
12-133202807-G-T c.6427C>A p.Q2143K Missense 46/49 - 1
12-133202809-G-A c.6425C>T p.A2142V Missense 46/49 - 1
12-133202811-C-G c.6423G>C p.E2141D Missense 46/49 - 1
12-133202811-C-A c.6423G>T p.E2141D Missense 46/49 - 1
12-133202816-C-T c.6418G>A p.E2140K Missense 46/49 - 6
12-133202816-C-G c.6418G>C p.E2140Q Missense 46/49 - 2
12-133202824-T-A c.6410A>T p.E2137V Missense 46/49 - 1
12-133202825-C-A c.6409G>T p.E2137* Nonsense 46/49 - 1
12-133202825-C-T c.6409G>A p.E2137K Missense 46/49 - 1
12-133202827-C-T c.6407G>A p.G2136D Missense 46/49 - 1
12-133202837-C-G c.6397G>C p.V2133L Missense 46/49 - 1
12-133202837-C-A c.6397G>T p.V2133L Missense 46/49 - 1
12-133202843-G-A c.6391C>T p.R2131C Missense 46/49 - 1
12-133202852-C-A c.6382G>T p.D2128Y Missense 46/49 - 1
12-133202854-C-T c.6380G>A p.R2127Q Missense 46/49 - 1
12-133202855-G-A c.6379C>T p.R2127* Nonsense 46/49 - 1
12-133202857-T-C c.6377A>G p.N2126S Missense 46/49 - 2
12-133202870-C-T c.6364G>A p.V2122M Missense 46/49 - 1
12-133202885-T-C c.6349A>G p.N2117D Missense 46/49 - 1
12-133202887-G-C c.6347C>G p.T2116S Missense 46/49 - 1
12-133202896-G-A c.6338C>T p.S2113F Missense 46/49 - 1
12-133202900-G-T c.6334C>A p.L2112M Missense 46/49 - 1
12-133202900-G-C c.6334C>G p.L2112V Missense 46/49 - 1
12-133206648-T-C c.6330+2253A>G - IntronicSNV - 45/48 1
12-133207412-T-C c.6330+1489A>G - IntronicSNV - 45/48 1
12-133208896-C-G c.6330+5G>C - IntronicSNV - 45/48 1
12-133208906-A-G c.6325T>C p.C2109R Missense 45/49 - 1
12-133208907-C-CA c.6323dup p.C2109Vfs*16 Frameshift 45/49 - 1
12-133208909-C-G c.6322G>C p.V2108L Missense 45/49 - 1
12-133208909-C-A c.6322G>T p.V2108L Missense 45/49 - 1
12-133208909-C-T c.6322G>A p.V2108M Missense 45/49 - 1
12-133208914-T-C c.6317A>G p.K2106R Missense 45/49 - 1
12-133208930-C-A c.6301G>T p.A2101S Missense 45/49 - 1
12-133208933-G-A c.6298C>T p.P2100S Missense 45/49 - 1
12-133208945-G-T c.6286C>A p.L2096M Missense 45/49 - 1
12-133208953-G-A c.6278C>T p.S2093F Missense 45/49 - 1
12-133208955-AC-A c.6275del p.G2092Vfs*31 Frameshift 45/49 - 1
12-133208955-ACCGGGGAGGACAGGAAACATCTCTGAGAGCT-A c.6245_6275del p.E2082Vfs*31 Frameshift 45/49 - 1
12-133208958-G-A c.6273C>T p.P2091= Synonymous 45/49 - 1
12-133208960-G-A c.6271C>T p.P2091S Missense 45/49 - 2
12-133208969-G-A c.6262C>T p.P2088S Missense 45/49 - 2
12-133208978-C-T c.6253G>A p.E2085K Missense 45/49 - 1
12-133208979-T-C c.6252A>G p.S2084= Synonymous 45/49 - 2
12-133208979-T-G c.6252A>C p.S2084= Synonymous 45/49 - 1
12-133208980-G-A c.6251C>T p.S2084L Missense 45/49 - 1
12-133208986-T-C c.6245A>G p.E2082G Missense 45/49 - 1
12-133208995-T-G c.6236A>C p.N2079T Missense 45/49 - 1
12-133209004-C-A c.6227G>T p.G2076V Missense 45/49 - 2
12-133209041-A-G c.6190T>C p.F2064L Missense 45/49 - 1
12-133209039-G-T c.6192C>A p.F2064L Missense 45/49 - 1
12-133209039-G-C c.6192C>G p.F2064L Missense 45/49 - 1
12-133209044-A-G c.6187T>C p.F2063L Missense 45/49 - 1
12-133209042-G-T c.6189C>A p.F2063L Missense 45/49 - 1
12-133209042-G-C c.6189C>G p.F2063L Missense 45/49 - 1
12-133209048-C-G c.6183G>C p.Q2061H Missense 45/49 - 1
12-133209049-T-A c.6182A>T p.Q2061L Missense 45/49 - 1
12-133209056-G-A c.6175C>T p.L2059F Missense 45/49 - 1
12-133209060-A-AT c.6170dup p.N2057Kfs*2 Frameshift 45/49 - 1
12-133209065-C-T c.6166G>A p.A2056T Missense 45/49 - 2
12-133209071-A-C c.6160T>G p.Y2054D Missense 45/49 - 1
12-133209074-C-CA c.6156_6157insT p.D2053* Nonsense 45/49 - 1
12-133209074-C-T c.6157G>A p.D2053N Missense 45/49 - 1
12-133209077-G-C c.6154C>G p.Q2052E Missense 45/49 - 1
12-133209080-A-T c.6151T>A p.S2051T Missense 45/49 - 1
12-133209083-A-G c.6148T>C p.F2050L Missense 45/49 - 1
12-133209081-G-T c.6150C>A p.F2050L Missense 45/49 - 1
12-133209081-G-C c.6150C>G p.F2050L Missense 45/49 - 1
12-133209086-T-C c.6145A>G p.T2049A Missense 45/49 - 1
12-133209087-G-C c.6144C>G p.I2048M Missense 45/49 - 1
12-133209090-C-G c.6141G>C p.M2047I Missense 45/49 - 1
12-133209090-C-T c.6141G>A p.M2047I Missense 45/49 - 1
12-133209090-C-A c.6141G>T p.M2047I Missense 45/49 - 1
12-133209251-G-A c.6135C>T p.P2045= Synonymous 44/49 - 1
12-133209262-C-T c.6124G>A p.G2042R Missense 44/49 - 1
12-133209262-C-G c.6124G>C p.G2042R Missense 44/49 - 1
12-133209267-G-A c.6119C>T p.A2040V Missense 44/49 - 2
12-133209268-C-A c.6118G>T p.A2040S Missense 44/49 - 1
12-133209271-C-A c.6115G>T p.G2039W Missense 44/49 - 1
12-133209274-C-T c.6112G>A p.E2038K Missense 44/49 - 2
12-133209276-G-A c.6110C>T p.A2037V Missense 44/49 - 1
12-133209281-C-A c.6105G>T p.Q2035H Missense 44/49 - 1
12-133209281-C-G c.6105G>C p.Q2035H Missense 44/49 - 1
12-133209285-G-T c.6101C>A p.S2034Y Missense 44/49 - 1
12-133209289-G-C c.6097C>G p.L2033V Missense 44/49 - 1
12-133209297-G-C c.6089C>G p.A2030G Missense 44/49 - 1
12-133209303-C-G c.6083G>C p.R2028T Missense 44/49 - 1
12-133209297-GC-G c.6088del p.A2030Pfs*18 Frameshift 44/49 - 1
12-133209306-C-A c.6080G>T p.R2027M Missense 44/49 - 1
12-133209308-C-G c.6078G>C p.R2026S Missense 44/49 - 2
12-133209308-C-A c.6078G>T p.R2026S Missense 44/49 - 2
12-133209310-T-C c.6076A>G p.R2026G Missense 44/49 - 1
12-133209312-AC-TA c.6073_6074delinsTA p.V2025* Nonsense 44/49 - 1
12-133209313-C-T c.6073G>A p.V2025M Missense 44/49 - 3
12-133209315-G-A c.6071C>T p.P2024L Missense 44/49 - 1
12-133209328-G-A c.6058C>T p.P2020S Missense 44/49 - 1
12-133209332-A-C c.6054T>G p.S2018R Missense 44/49 - 1
12-133209332-A-T c.6054T>A p.S2018R Missense 44/49 - 1
12-133209334-T-G c.6052A>C p.S2018R Missense 44/49 - 1
12-133209333-C-G c.6053G>C p.S2018T Missense 44/49 - 1
12-133209336-C-T c.6050G>A p.R2017H Missense 44/49 - 1
12-133209336-CG-GC c.6049_6050delinsGC p.R2017A Missense 44/49 - 1
12-133209337-G-A c.6049C>T p.R2017C Missense 44/49 - 2
12-133209345-C-G c.6041G>C p.G2014A Missense 44/49 - 1
12-133209346-C-T c.6040G>A p.G2014R Missense 44/49 - 1
12-133209348-T-A c.6038A>T p.D2013V Missense 44/49 - 1
12-133209349-C-T c.6037G>A p.D2013N Missense 44/49 - 2
12-133209367-C-T c.6019G>A p.V2007M Missense 44/49 - 1
12-133209369-G-A c.6017C>T p.A2006V Missense 44/49 - 1
12-133209378-T-C c.6008A>G p.Y2003C Missense 44/49 - 1
12-133209380-C-T c.6006G>A p.A2002= Synonymous 44/49 - 1
12-133209380-C-G c.6006G>C p.A2002= Synonymous 44/49 - 1
12-133209380-C-A c.6006G>T p.A2002= Synonymous 44/49 - 1
12-133210767-C-A c.6004+5G>T - IntronicSNV - 43/48 1
12-133210772-C-T c.6004G>A p.A2002T Missense 43/49 - 1
12-133210774-GA-G c.6001del p.S2001Qfs*11 Frameshift 43/49 - 1
12-133210782-C-G c.5994G>C p.M1998I Missense 43/49 - 1
12-133210782-C-T c.5994G>A p.M1998I Missense 43/49 - 1
12-133210782-C-A c.5994G>T p.M1998I Missense 43/49 - 1
12-133210784-T-C c.5992A>G p.M1998V Missense 43/49 - 1
12-133210787-G-A c.5989C>T p.L1997F Missense 43/49 - 1
12-133210789-A-G c.5987T>C p.F1996S Missense 43/49 - 1
12-133210792-T-C c.5984A>G p.Y1995C Missense 43/49 - 1
12-133210795-T-A c.5981A>T p.N1994I Missense 43/49 - 1
12-133210798-T-A c.5978A>T p.Q1993L Missense 43/49 - 1
12-133210798-T-C c.5978A>G p.Q1993R Missense 43/49 - 1
12-133210802-A-T c.5974T>A p.C1992S Missense 43/49 - 1
12-133210801-C-G c.5975G>C p.C1992S Missense 43/49 - 1
12-133210804-G-A c.5972C>T p.S1991F Missense 43/49 - 1
12-133210807-G-A c.5969C>T p.A1990V Missense 43/49 - 1
12-133210811-C-T c.5965G>A p.A1989T Missense 43/49 - 1
12-133210813-T-C c.5963A>G p.Q1988R Missense 43/49 - 1
12-133210823-A-G c.5953T>C p.F1985L Missense 43/49 - 1
12-133210821-A-T c.5955T>A p.F1985L Missense 43/49 - 1
12-133210821-A-C c.5955T>G p.F1985L Missense 43/49 - 1
12-133210832-T-C c.5944A>G p.I1982V Missense 43/49 - 1
12-133210836-C-T c.5940G>A p.W1980* Nonsense 43/49 - 1
12-133210843-T-C c.5933A>G p.N1978S Missense 43/49 - 1
12-133210846-T-C c.5930A>G p.E1977G Missense 43/49 - 1
12-133210842-GT-G c.5933del p.N1978Tfs*21 Frameshift 43/49 - 1
12-133210847-C-T c.5929G>A p.E1977K Missense 43/49 - 1
12-133210861-A-C c.5915T>G p.V1972G Missense 43/49 - 1
12-133210873-T-C c.5903A>G p.E1968G Missense 43/49 - 1
12-133210876-G-A c.5900C>T p.A1967V Missense 43/49 - 1
12-133210885-T-C c.5891A>G p.E1964G Missense 43/49 - 1
12-133210894-C-T c.5882G>A p.G1961E Missense 43/49 - 1
12-133210894-C-A c.5882G>T p.G1961V Missense 43/49 - 1
12-133210898-C-G c.5878G>C p.D1960H Missense 43/49 - 1
12-133210909-T-C c.5867A>G p.E1956G Missense 43/49 - 1
12-133210909-T-A c.5867A>T p.E1956V Missense 43/49 - 1
12-133210913-C-T c.5863G>A p.D1955N Missense 43/49 - 1
12-133210918-T-C c.5858A>G p.E1953G Missense 43/49 - 1
12-133210920-AT-A c.5855del p.N1952Mfs*47 Frameshift 43/49 - 1
12-133210925-C-A c.5851G>T p.E1951* Nonsense 43/49 - 1
12-133210926-C-A c.5850G>T p.Q1950H Missense 43/49 - 1
12-133210927-T-C c.5849A>G p.Q1950R Missense 43/49 - 1
12-133210934-C-A c.5842G>T p.D1948Y Missense 43/49 - 1
12-133210935-C-G c.5841G>C p.E1947D Missense 43/49 - 1
12-133210935-C-A c.5841G>T p.E1947D Missense 43/49 - 1
12-133210942-C-A c.5834G>T p.G1945V Missense 43/49 - 1
12-133210946-C-T c.5830G>A p.G1944R Missense 43/49 - 1
12-133210946-C-G c.5830G>C p.G1944R Missense 43/49 - 1
12-133210941-TC-T c.5834del p.G1945Efs*54 Frameshift 43/49 - 1
12-133210948-G-T c.5828C>A p.A1943E Missense 43/49 - 1
12-133210948-G-A c.5828C>T p.A1943V Missense 43/49 - 1
12-133210957-GA-TC c.5818_5819inv p.S1940D Missense 43/49 - 1
12-133210958-A-C c.5818T>G p.S1940A Missense 43/49 - 1
12-133210961-C-T c.5815G>A p.D1939N Missense 43/49 - 1
12-133212482-C-T c.5807G>A p.G1936E Missense 42/49 - 2
12-133212482-C-G c.5807G>C p.G1936A Missense 42/49 - 1
12-133212483-C-A c.5806G>T p.G1936* Nonsense 42/49 - 1
12-133212485-C-T c.5804G>A p.C1935Y Missense 42/49 - 1
12-133212487-G-T c.5802C>A p.H1934Q Missense 42/49 - 1
12-133212487-G-C c.5802C>G p.H1934Q Missense 42/49 - 1
12-133212489-G-A c.5800C>T p.H1934Y Missense 42/49 - 1
12-133212492-T-C c.5797A>G p.I1933V Missense 42/49 - 1
12-133212495-G-A c.5794C>T p.R1932C Missense 42/49 - 1
12-133212500-G-A c.5789C>T p.S1930L Missense 42/49 - 1
12-133212500-G-T c.5789C>A p.S1930* Nonsense 42/49 - 1
12-133212500-G-C c.5789C>G p.S1930* Nonsense 42/49 - 1
12-133212510-C-G c.5779G>C p.G1927R Missense 42/49 - 1
12-133212515-A-G c.5774T>C p.I1925T Missense 42/49 - 1
12-133212519-C-A c.5770G>T p.G1924* Nonsense 42/49 - 1
12-133212528-T-C c.5761A>G p.N1921D Missense 42/49 - 2
12-133212538-C-G c.5751G>C p.M1917I Missense 42/49 - 1
12-133212538-C-T c.5751G>A p.M1917I Missense 42/49 - 1
12-133212538-C-A c.5751G>T p.M1917I Missense 42/49 - 1
12-133212541-C-A c.5748G>T p.W1916C Missense 42/49 - 1
12-133212541-C-G c.5748G>C p.W1916C Missense 42/49 - 1
12-133212542-C-A c.5747G>T p.W1916L Missense 42/49 - 1
12-133212545-A-T c.5744T>A p.L1915H Missense 42/49 - 1
12-133212545-A-G c.5744T>C p.L1915P Missense 42/49 - 1
12-133212555-C-T c.5734G>A p.E1912K Missense 42/49 - 1
12-133212563-C-T c.5726G>A p.R1909Q Missense 42/49 - 1
12-133212567-A-C c.5722T>G p.S1908A Missense 42/49 - 1
12-133212570-A-G c.5719T>C p.F1907L Missense 42/49 - 1
12-133212568-G-T c.5721C>A p.F1907L Missense 42/49 - 1
12-133212568-G-C c.5721C>G p.F1907L Missense 42/49 - 1
12-133212572-G-T c.5717C>A p.S1906Y Missense 42/49 - 2
12-133212572-G-C c.5717C>G p.S1906C Missense 42/49 - 1
12-133212574-A-C c.5715T>G p.I1905M Missense 42/49 - 1
12-133212579-T-C c.5710A>G p.T1904A Missense 42/49 - 1
12-133212580-C-A c.5709G>T p.L1903= Synonymous 42/49 - 1
12-133212580-C-T c.5709G>A p.L1903= Synonymous 42/49 - 1
12-133212580-C-G c.5709G>C p.L1903= Synonymous 42/49 - 1
12-133212582-G-A c.5707C>T p.L1903= Synonymous 42/49 - 3
12-133212582-G-C c.5707C>G p.L1903V Missense 42/49 - 1
12-133212595-C-G c.5694G>C p.E1898D Missense 42/49 - 1
12-133212597-C-A c.5692G>T p.E1898* Nonsense 42/49 - 1
12-133214599-C-A c.5678+1G>T - IntronicSNV - 41/48 1
12-133214600-C-A c.5678G>T p.S1893I Missense 41/49 - 1
12-133214603-C-T c.5675G>A p.S1892N Missense 41/49 - 1
12-133214612-T-C c.5666A>G p.Y1889C Missense 41/49 - 2
12-133214616-C-T c.5662G>A p.E1888K Missense 41/49 - 1
12-133214619-C-T c.5659G>A p.V1887M Missense 41/49 - 2
12-133214625-C-T c.5653G>A p.A1885T Missense 41/49 - 3
12-133214630-G-A c.5648C>T p.A1883V Missense 41/49 - 3
12-133214631-C-T c.5647G>A p.A1883T Missense 41/49 - 1
12-133214642-C-A c.5636G>T p.R1879L Missense 41/49 - 1
12-133214643-G-A c.5635C>T p.R1879C Missense 41/49 - 2
12-133214645-C-T c.5633G>A p.R1878H Missense 41/49 - 2
12-133214646-G-A c.5632C>T p.R1878C Missense 41/49 - 1
12-133214646-G-T c.5632C>A p.R1878S Missense 41/49 - 1
12-133214655-TAC-T c.5621_5622del p.C1874Yfs*47 Frameshift 41/49 - 1
12-133214667-T-A c.5611A>T p.I1871F Missense 41/49 - 1
12-133214669-C-T c.5609G>A p.R1870H Missense 41/49 - 1
12-133214670-G-T c.5608C>A p.R1870S Missense 41/49 - 2
12-133214670-G-A c.5608C>T p.R1870C Missense 41/49 - 1
12-133214672-T-C c.5606A>G p.N1869S Missense 41/49 - 1
12-133214682-C-T c.5596G>A p.A1866T Missense 41/49 - 1
12-133214687-A-C c.5591T>G p.I1864S Missense 41/49 - 1
12-133214691-C-T c.5587G>A p.V1863I Missense 41/49 - 1
12-133214696-G-A c.5582C>T p.S1861L Missense 41/49 - 1
12-133214705-C-T c.5573G>A p.R1858H Missense 41/49 - 1
12-133214706-G-A c.5572C>T p.R1858C Missense 41/49 - 1
12-133214718-C-A c.5560G>T p.A1854S Missense 41/49 - 2
12-133215718-A-C c.5545T>G p.F1849V Missense 40/49 - 1
12-133215721-GCTT-G c.5539_5541del p.K1847del InFrameDeletion 40/49 - 1
12-133215728-C-G c.5535G>C p.M1845I Missense 40/49 - 1
12-133215728-C-T c.5535G>A p.M1845I Missense 40/49 - 1
12-133215728-C-A c.5535G>T p.M1845I Missense 40/49 - 1
12-133215747-C-T c.5516G>A p.R1839H Missense 40/49 - 1
12-133215748-G-A c.5515C>T p.R1839C Missense 40/49 - 1
12-133215748-G-T c.5515C>A p.R1839S Missense 40/49 - 1
12-133215753-A-C c.5510T>G p.L1837R Missense 40/49 - 1
12-133215762-T-G c.5501A>C p.D1834A Missense 40/49 - 1
12-133215766-G-A c.5497C>T p.H1833Y Missense 40/49 - 1
12-133215783-G-A c.5480C>T p.S1827L Missense 40/49 - 1
12-133215785-C-A c.5478G>T p.R1826= Synonymous 40/49 - 1
12-133215787-G-A c.5476C>T p.R1826W Missense 40/49 - 4
12-133215791-C-A c.5472G>T p.W1824C Missense 40/49 - 2
12-133215791-C-G c.5472G>C p.W1824C Missense 40/49 - 1
12-133215795-C-T c.5468G>A p.R1823H Missense 40/49 - 2
12-133215796-G-A c.5467C>T p.R1823C Missense 40/49 - 1
12-133215799-A-T c.5464T>A p.Y1822N Missense 40/49 - 1
12-133215814-G-A c.5449C>T p.Q1817* Nonsense 40/49 - 1
12-133215815-G-A c.5448C>T p.N1816= Synonymous 40/49 - 1
12-133215820-C-T c.5443G>A p.D1815N Missense 40/49 - 1
12-133215825-T-C c.5438A>G p.Y1813C Missense 40/49 - 1
12-133215852-T-C c.5411A>G p.K1804R Missense 40/49 - 1
12-133215865-C-T c.5398G>A p.V1800M Missense 40/49 - 1
12-133215867-A-G c.5396T>C p.V1799A Missense 40/49 - 1
12-133215875-C-G c.5388G>C p.K1796N Missense 40/49 - 1
12-133218233-C-T c.5378G>A p.R1793K Missense 39/49 - 1
12-133218233-C-A c.5378G>T p.R1793M Missense 39/49 - 1
12-133218261-C-T c.5350G>A p.E1784K Missense 39/49 - 1
12-133218264-C-T c.5347G>A p.D1783N Missense 39/49 - 2
12-133218272-G-C c.5339C>G p.A1780G Missense 39/49 - 1
12-133218275-G-A c.5336C>T p.P1779L Missense 39/49 - 1
12-133218277-G-A c.5334C>T p.A1778= Synonymous 39/49 - 1
12-133218278-G-A c.5333C>T p.A1778V Missense 39/49 - 1
12-133218278-G-T c.5333C>A p.A1778D Missense 39/49 - 1
12-133218282-T-C c.5329A>G p.S1777G Missense 39/49 - 2
12-133218289-C-A c.5322G>T p.Q1774H Missense 39/49 - 1
12-133218289-C-G c.5322G>C p.Q1774H Missense 39/49 - 1
12-133218294-C-G c.5317G>C p.G1773R Missense 39/49 - 1
12-133218299-G-A c.5312C>T p.T1771M Missense 39/49 - 2
12-133218312-C-A c.5299G>T p.E1767* Nonsense 39/49 - 1
12-133218317-G-A c.5294C>T p.S1765F Missense 39/49 - 1
12-133218333-C-T c.5278G>A p.V1760M Missense 39/49 - 1
12-133218335-T-C c.5276A>G p.D1759G Missense 39/49 - 1
12-133218339-A-G c.5272T>C p.F1758L Missense 39/49 - 1
12-133218337-G-T c.5274C>A p.F1758L Missense 39/49 - 1
12-133218337-G-C c.5274C>G p.F1758L Missense 39/49 - 1
12-133218347-C-T c.5264G>A p.G1755E Missense 39/49 - 1
12-133218348-C-G c.5263G>C p.G1755R Missense 39/49 - 1
12-133218348-C-T c.5263G>A p.G1755R Missense 39/49 - 1
12-133218348-C-A c.5263G>T p.G1755W Missense 39/49 - 1
12-133218345-TC-T c.5265del p.I1756Sfs*5 Frameshift 39/49 - 1
12-133218351-T-C c.5260A>G p.M1754V Missense 39/49 - 1
12-133218357-C-T c.5254G>A p.D1752N Missense 39/49 - 4
12-133218357-C-A c.5254G>T p.D1752Y Missense 39/49 - 1
12-133218360-C-A c.5251G>T p.A1751S Missense 39/49 - 1
12-133218365-T-A c.5246A>T p.E1749V Missense 39/49 - 1
12-133218369-T-G c.5242A>C p.M1748L Missense 39/49 - 1
12-133218369-T-A c.5242A>T p.M1748L Missense 39/49 - 1
12-133218372-C-T c.5239G>A p.D1747N Missense 39/49 - 1
12-133218390-G-A c.5221C>T p.Q1741* Nonsense 39/49 - 1
12-133218398-G-T c.5213C>A p.T1738N Missense 39/49 - 1
12-133218398-G-C c.5213C>G p.T1738S Missense 39/49 - 1
12-133218399-T-A c.5212A>T p.T1738S Missense 39/49 - 1
12-133218405-C-T c.5206G>A p.V1736I Missense 39/49 - 1
12-133218426-G-T c.5185C>A p.L1729M Missense 39/49 - 1
12-133218429-CCA-C c.5180_5181del p.V1727Gfs*57 Frameshift 39/49 38/48 1
12-133218763-C-G c.5173G>C p.V1725L Missense 38/49 - 1
12-133218763-C-A c.5173G>T p.V1725L Missense 38/49 - 1
12-133218793-C-G c.5143G>C p.E1715Q Missense 38/49 - 1
12-133218828-C-T c.5108G>A p.C1703Y Missense 38/49 - 1
12-133218838-C-T c.5098G>A p.D1700N Missense 38/49 - 2
12-133218840-G-T c.5096C>A p.A1699D Missense 38/49 - 1
12-133218842-C-G c.5094G>C p.E1698D Missense 38/49 - 1
12-133218842-C-A c.5094G>T p.E1698D Missense 38/49 - 1
12-133218844-C-T c.5092G>A p.E1698K Missense 38/49 - 2
12-133218849-C-T c.5087G>A p.G1696E Missense 38/49 - 1
12-133218861-G-T c.5075C>A p.P1692H Missense 38/49 - 1
12-133218862-G-A c.5074C>T p.P1692S Missense 38/49 - 1
12-133218864-C-T c.5072G>A p.R1691H Missense 38/49 - 1
12-133218865-G-A c.5071C>T p.R1691C Missense 38/49 - 1
12-133218868-C-A c.5068G>T p.A1690S Missense 38/49 - 1
12-133218873-G-T c.5063C>A p.P1688H Missense 38/49 - 1
12-133218873-G-A c.5063C>T p.P1688L Missense 38/49 - 1
12-133218876-G-A c.5060C>T p.S1687F Missense 38/49 - 1
12-133218892-G-T c.5044C>A p.H1682N Missense 38/49 - 1
12-133218900-C-T c.5036G>A p.R1679H Missense 38/49 - 1
12-133218901-G-A c.5035C>T p.R1679C Missense 38/49 - 1
12-133218904-G-A c.5032C>T p.Q1678* Nonsense 38/49 - 1
12-133218912-C-T c.5024G>A p.R1675H Missense 38/49 - 2
12-133218913-G-A c.5023C>T p.R1675C Missense 38/49 - 1
12-133218915-G-A c.5021C>T p.A1674V Missense 38/49 - 2
12-133218922-A-G c.5014T>C p.F1672L Missense 38/49 - 2
12-133218920-G-T c.5016C>A p.F1672L Missense 38/49 - 2
12-133218920-G-C c.5016C>G p.F1672L Missense 38/49 - 2
12-133218934-C-T c.5002G>A p.G1668S Missense 38/49 - 1
12-133218945-A-T c.4991T>A p.I1664N Missense 38/49 - 1
12-133218949-C-A c.4987G>T p.D1663Y Missense 38/49 - 1
12-133218954-G-A c.4982C>T p.P1661L Missense 38/49 - 1
12-133218963-C-G c.4973G>C p.G1658A Missense 38/49 - 1
12-133218976-G-A c.4960C>T p.H1654Y Missense 38/49 - 1
12-133219096-T-A c.4948A>T p.S1650C Missense 37/49 - 1
12-133219102-C-T c.4942G>A p.E1648K Missense 37/49 - 1
12-133219102-C-A c.4942G>T p.E1648* Nonsense 37/49 - 1
12-133219103-G-A c.4941C>T p.F1647= Synonymous 37/49 - 1
12-133219108-C-T c.4936G>A p.A1646T Missense 37/49 - 1
12-133219113-G-A c.4931C>T p.S1644L Missense 37/49 - 2
12-133219122-G-A c.4922C>T p.T1641I Missense 37/49 - 1
12-133219131-T-C c.4913A>G p.N1638S Missense 37/49 - 1
12-133219131-T-A c.4913A>T p.N1638I Missense 37/49 - 1
12-133219135-G-A c.4909C>T p.L1637F Missense 37/49 - 1
12-133219144-G-A c.4900C>T p.R1634C Missense 37/49 - 1
12-133219152-C-T c.4892G>A p.R1631H Missense 37/49 - 1
12-133219153-G-A c.4891C>T p.R1631C Missense 37/49 - 1
12-133219156-G-A c.4888C>T p.R1630W Missense 37/49 - 1
12-133219158-G-T c.4886C>A p.A1629D Missense 37/49 - 1
12-133219158-G-A c.4886C>T p.A1629V Missense 37/49 - 1
12-133219161-C-T c.4883G>A p.G1628E Missense 37/49 - 1
12-133219167-C-T c.4877G>A p.R1626H Missense 37/49 - 2
12-133219168-G-A c.4876C>T p.R1626C Missense 37/49 - 2
12-133219177-C-A c.4867G>T p.D1623Y Missense 37/49 - 1
12-133219185-C-A c.4859G>T p.G1620V Missense 37/49 - 1
12-133219186-C-A c.4858G>T p.G1620W Missense 37/49 - 1
12-133219193-G-C c.4851C>G p.I1617M Missense 37/49 - 1
12-133219194-A-G c.4850T>C p.I1617T Missense 37/49 - 1
12-133219196-C-G c.4848G>C p.K1616N Missense 37/49 - 1
12-133219196-C-A c.4848G>T p.K1616N Missense 37/49 - 1
12-133219197-T-C c.4847A>G p.K1616R Missense 37/49 - 1
12-133219199-G-C c.4845C>G p.D1615E Missense 37/49 - 1
12-133219199-G-T c.4845C>A p.D1615E Missense 37/49 - 1
12-133219201-C-T c.4843G>A p.D1615N Missense 37/49 - 1
12-133219213-T-C c.4831A>G p.I1611V Missense 37/49 - 1
12-133219214-A-C c.4830T>G p.P1610= Synonymous 37/49 - 1
12-133219214-A-T c.4830T>A p.P1610= Synonymous 37/49 - 1
12-133219214-A-G c.4830T>C p.P1610= Synonymous 37/49 - 1
12-133219215-G-T c.4829C>A p.P1610H Missense 37/49 - 1
12-133219219-C-T c.4825G>A p.V1609M Missense 37/49 - 1
12-133219227-A-T c.4817T>A p.F1606Y Missense 37/49 - 1
12-133219232-C-G c.4812G>C p.E1604D Missense 37/49 - 1
12-133219243-G-A c.4801C>T p.P1601S Missense 37/49 - 2
12-133219249-C-A c.4795G>T p.E1599* Nonsense 37/49 - 1
12-133219253-G-C c.4791C>G p.A1597= Synonymous 37/49 - 1
12-133219267-G-C c.4777C>G p.L1593V Missense 37/49 - 1
12-133219278-G-A c.4766C>T p.S1589F Missense 37/49 - 1
12-133219288-C-T c.4756G>A p.A1586T Missense 37/49 - 1
12-133219297-GT-G c.4747del p.T1583Hfs*11 Frameshift 37/49 - 1
12-133219302-C-T c.4742G>A p.G1581E Missense 37/49 - 1
12-133219303-C-A c.4741G>T p.G1581W Missense 37/49 - 1
12-133219305-C-T c.4739G>A p.R1580Q Missense 37/49 - 2
12-133219306-G-C c.4738C>G p.R1580G Missense 37/49 - 1
12-133219308-C-T c.4736G>A p.R1579H Missense 37/49 - 2
12-133219309-G-A c.4735C>T p.R1579C Missense 37/49 - 1
12-133219312-C-T c.4732G>A p.E1578K Missense 37/49 - 1
12-133219314-T-G c.4730A>C p.E1577A Missense 37/49 - 4
12-133219405-C-A c.4728+1G>T - IntronicSNV - 36/48 1
12-133219410-T-C c.4724A>G p.Y1575C Missense 36/49 - 1
12-133219414-C-T c.4720G>A p.A1574T Missense 36/49 - 1
12-133219425-C-T c.4709G>A p.R1570Q Missense 36/49 - 1
12-133219432-T-C c.4702A>G p.I1568V Missense 36/49 - 1
12-133219437-C-A c.4697G>T p.R1566I Missense 36/49 - 1
12-133219440-C-T c.4694G>A p.C1565Y Missense 36/49 - 1
12-133219446-G-C c.4688C>G p.T1563S Missense 36/49 - 1
12-133219447-T-A c.4687A>T p.T1563S Missense 36/49 - 1
12-133219449-T-G c.4685A>C p.K1562T Missense 36/49 - 1
12-133219452-A-G c.4682T>C p.L1561P Missense 36/49 - 1
12-133219462-C-T c.4672G>A p.E1558K Missense 36/49 - 1
12-133219465-C-A c.4669G>T p.A1557S Missense 36/49 - 1
12-133219468-G-A c.4666C>T p.R1556W Missense 36/49 - 2
12-133219474-C-T c.4660G>A p.E1554K Missense 36/49 - 1
12-133219479-G-C c.4655C>G p.T1552S Missense 36/49 - 1
12-133219485-T-C c.4649A>G p.K1550R Missense 36/49 - 1
12-133219483-GT-G c.4650del p.K1550Nfs*12 Frameshift 36/49 - 1
12-133219489-G-A c.4645C>T p.P1549S Missense 36/49 - 1
12-133219491-G-A c.4643C>T p.P1548L Missense 36/49 - 1
12-133219495-G-T c.4639C>A p.P1547T Missense 36/49 - 1
12-133219495-G-A c.4639C>T p.P1547S Missense 36/49 - 1
12-133219510-C-A c.4624G>T p.G1542C Missense 36/49 - 1
12-133219525-G-A c.4609C>T p.L1537F Missense 36/49 - 1
12-133219531-C-T c.4603G>A p.G1535S Missense 36/49 - 1
12-133219533-T-G c.4601A>C p.H1534P Missense 36/49 - 1
12-133219537-C-A c.4597G>T p.E1533* Nonsense 36/49 - 1
12-133219537-C-T c.4597G>A p.E1533K Missense 36/49 - 1
12-133219542-G-A c.4592C>T p.S1531L Missense 36/49 - 1
12-133219552-C-T c.4582G>A p.A1528T Missense 36/49 - 1
12-133219572-T-C c.4562A>G p.N1521S Missense 36/49 - 1
12-133219578-C-A c.4556G>T p.R1519L Missense 36/49 - 1
12-133219578-C-T c.4556G>A p.R1519H Missense 36/49 - 1
12-133219579-G-A c.4555C>T p.R1519C Missense 36/49 - 4
12-133219820-A-G c.4541T>C p.V1514A Missense 35/49 - 4
12-133219831-T-C c.4530A>G p.A1510= Synonymous 35/49 - 1
12-133219832-G-A c.4529C>T p.A1510V Missense 35/49 - 3
12-133219838-C-T c.4523G>A p.R1508H Missense 35/49 - 5
12-133219839-G-A c.4522C>T p.R1508C Missense 35/49 - 2
12-133219847-G-A c.4514C>T p.P1505L Missense 35/49 - 1
12-133219847-G-T c.4514C>A p.P1505H Missense 35/49 - 1
12-133219848-G-A c.4513C>T p.P1505S Missense 35/49 - 2
12-133219850-A-G c.4511T>C p.I1504T Missense 35/49 - 1
12-133219868-G-A c.4493C>T p.A1498V Missense 35/49 - 2
12-133219878-C-T c.4483G>A p.A1495T Missense 35/49 - 1
12-133219880-CT-C c.4481del p.Q1494Rfs*68 Frameshift 35/49 - 1
12-133219881-G-A c.4480C>T p.Q1494* Nonsense 35/49 - 1
12-133219884-C-T c.4477G>A p.A1493T Missense 35/49 - 1
12-133219893-A-G c.4468T>C p.Y1490H Missense 35/49 - 1
12-133219900-G-C c.4461C>G p.I1487M Missense 35/49 - 1
12-133219905-G-A c.4456C>T p.H1486Y Missense 35/49 - 2
12-133219907-C-T c.4454G>A p.R1485H Missense 35/49 - 1
12-133219908-G-A c.4453C>T p.R1485C Missense 35/49 - 1
12-133219913-C-T c.4448G>A p.S1483N Missense 35/49 - 1
12-133219913-CT-AC c.4447_4448delinsGT p.S1483V Missense 35/49 - 1
12-133219989-A-T c.4444+4T>A - IntronicSNV - 34/48 1
12-133219990-T-C c.4444+3A>G - IntronicSNV - 34/48 2
12-133220007-GC-G c.4430del p.S1477Tfs*85 Frameshift 34/49 - 1
12-133220012-C-A c.4425G>T p.Q1475H Missense 34/49 - 1
12-133220012-C-G c.4425G>C p.Q1475H Missense 34/49 - 1
12-133220013-T-C c.4424A>G p.Q1475R Missense 34/49 - 1
12-133220025-C-T c.4412G>A p.R1471H Missense 34/49 - 1
12-133220026-G-A c.4411C>T p.R1471C Missense 34/49 - 3
12-133220029-T-G c.4408A>C p.M1470L Missense 34/49 - 1
12-133220029-T-A c.4408A>T p.M1470L Missense 34/49 - 1
12-133220035-G-T c.4402C>A p.L1468M Missense 34/49 - 1
12-133220039-C-G c.4398G>C p.E1466D Missense 34/49 - 1
12-133220039-C-A c.4398G>T p.E1466D Missense 34/49 - 1
12-133220041-C-G c.4396G>C p.E1466Q Missense 34/49 - 1
12-133220046-G-T c.4391C>A p.A1464D Missense 34/49 - 1
12-133220049-A-G c.4388T>C p.F1463S Missense 34/49 - 1
12-133220052-G-C c.4385C>G p.T1462S Missense 34/49 - 1
12-133220055-T-A c.4382A>T p.E1461V Missense 34/49 - 2
12-133220067-C-T c.4370G>A p.G1457D Missense 34/49 - 1
12-133220067-C-A c.4370G>T p.G1457V Missense 34/49 - 1
12-133220070-G-A c.4367C>T p.S1456L Missense 34/49 - 1
12-133220074-G-A c.4363C>T p.L1455F Missense 34/49 - 1
12-133220080-T-C c.4357A>G p.R1453G Missense 34/49 - 1
12-133220082-A-G c.4355T>C p.V1452A Missense 34/49 - 1
12-133220107-C-G c.4330G>C p.V1444L Missense 34/49 - 1
12-133220107-C-A c.4330G>T p.V1444L Missense 34/49 - 1
12-133220098-CCA-C c.4337_4338del p.V1446Gfs*3 Frameshift 34/49 - 5
12-133220118-T-C c.4319A>G p.H1440R Missense 34/49 - 1
12-133220130-C-T c.4307G>A p.R1436Q Missense 34/49 - 3
12-133220131-G-A c.4306C>T p.R1436W Missense 34/49 - 1
12-133220142-G-A c.4295C>T p.P1432L Missense 34/49 - 2
12-133220170-C-A c.4291-24G>T - IntronicSNV - 33/48 1
12-133220170-C-T c.4291-24G>A - IntronicSNV - 33/48 1
12-133220425-G-A c.4288C>T p.Q1430* Nonsense 33/49 - 1
12-133220428-T-A c.4285A>T p.T1429S Missense 33/49 - 1
12-133220429-C-G c.4284G>C p.E1428D Missense 33/49 - 1
12-133220429-C-A c.4284G>T p.E1428D Missense 33/49 - 1
12-133220433-T-C c.4280A>G p.Y1427C Missense 33/49 - 1
12-133220436-A-G c.4277T>C p.V1426A Missense 33/49 - 1
12-133220437-C-T c.4276G>A p.V1426I Missense 33/49 - 4
12-133220438-G-T c.4275C>A p.G1425= Synonymous 33/49 - 1
12-133220441-C-G c.4272G>C p.E1424D Missense 33/49 - 1
12-133220441-C-A c.4272G>T p.E1424D Missense 33/49 - 1
12-133220443-C-A c.4270G>T p.E1424* Nonsense 33/49 - 1
12-133220446-T-C c.4267A>G p.I1423V Missense 33/49 - 1
12-133220449-C-G c.4264G>C p.D1422H Missense 33/49 - 1
12-133220452-G-A c.4261C>T p.P1421S Missense 33/49 - 1
12-133220453-C-T c.4260G>A p.A1420= Synonymous 33/49 - 1
12-133220453-C-G c.4260G>C p.A1420= Synonymous 33/49 - 1
12-133220453-C-A c.4260G>T p.A1420= Synonymous 33/49 - 1
12-133220464-C-T c.4249G>A p.E1417K Missense 33/49 - 2
12-133220466-G-A c.4247C>T p.A1416V Missense 33/49 - 1
12-133220467-C-T c.4246G>A p.A1416T Missense 33/49 - 1
12-133220469-T-C c.4244A>G p.N1415S Missense 33/49 - 1
12-133220470-T-C c.4243A>G p.N1415D Missense 33/49 - 1
12-133220482-T-C c.4231A>G p.I1411V Missense 33/49 - 1
12-133220485-GT-G c.4227del p.E1409Dfs*44 Frameshift 33/49 - 1
12-133220500-C-T c.4213G>A p.D1405N Missense 33/49 - 1
12-133220506-G-T c.4207C>A p.P1403T Missense 33/49 - 1
12-133220509-C-T c.4204G>A p.V1402M Missense 33/49 - 1
12-133220519-A-T c.4194T>A p.Y1398* Nonsense 33/49 - 2
12-133220519-A-C c.4194T>G p.Y1398* Nonsense 33/49 - 2
12-133220526-T-C c.4187A>G p.N1396S Missense 33/49 - 10
12-133220540-G-A c.4173C>T p.S1391= Synonymous 33/49 - 1
12-133220544-C-T c.4169G>A p.R1390H Missense 33/49 - 1
12-133220545-G-A c.4168C>T p.R1390C Missense 33/49 - 1
12-133220548-G-A c.4165C>T p.P1389S Missense 33/49 - 1
12-133220551-G-T c.4162C>A p.L1388I Missense 33/49 - 1
12-133220553-A-G c.4160T>C p.V1387A Missense 33/49 - 1
12-133220556-C-T c.4157G>A p.R1386Q Missense 33/49 - 2
12-133220557-G-A c.4156C>T p.R1386W Missense 33/49 - 1
12-133220563-C-G c.4150G>C p.V1384L Missense 33/49 - 1
12-133220563-C-A c.4150G>T p.V1384L Missense 33/49 - 1
12-133225514-C-T c.4149+1G>A - IntronicSNV - 32/48 2
12-133225515-C-G c.4149G>C p.K1383N Missense 32/49 - 1
12-133225515-C-A c.4149G>T p.K1383N Missense 32/49 - 1
12-133225516-T-C c.4148A>G p.K1383R Missense 32/49 - 1
12-133225519-C-A c.4145G>T p.R1382L Missense 32/49 - 2
12-133225520-G-A c.4144C>T p.R1382C Missense 32/49 - 4
12-133225522-T-C c.4142A>G p.Y1381C Missense 32/49 - 1
12-133225525-G-A c.4139C>T p.S1380L Missense 32/49 - 2
12-133225530-AC-CT c.4133_4134delinsAG p.G1378E Missense 32/49 - 1
12-133225531-C-T c.4133G>A p.G1378D Missense 32/49 - 1
12-133225532-C-A c.4132G>T p.G1378C Missense 32/49 - 1
12-133225533-C-G c.4131G>C p.E1377D Missense 32/49 - 1
12-133225533-C-A c.4131G>T p.E1377D Missense 32/49 - 1
12-133225535-C-T c.4129G>A p.E1377K Missense 32/49 - 1
12-133225535-C-A c.4129G>T p.E1377* Nonsense 32/49 - 1
12-133225538-C-A c.4126G>T p.E1376* Nonsense 32/49 - 1
12-133225540-G-A c.4124C>T p.A1375V Missense 32/49 - 2
12-133225543-T-G c.4121A>C p.K1374T Missense 32/49 - 1
12-133225553-G-A c.4111C>T p.R1371* Nonsense 32/49 - 4
12-133225562-C-T c.4102G>A p.V1368M Missense 32/49 - 2
12-133225563-G-A c.4101C>T p.Y1367= Synonymous 32/49 - 1
12-133225574-G-A c.4090C>T p.R1364C Missense 32/49 - 1
12-133225576-G-A c.4088C>T p.P1363L Missense 32/49 - 1
12-133225576-G-T c.4088C>A p.P1363H Missense 32/49 - 1
12-133225573-CG-C c.4090del p.R1364Vfs*5 Frameshift 32/49 - 1
12-133225573-C-CG c.4090dup p.R1364Pfs*11 Frameshift 32/49 - 1
12-133225581-G-C c.4083C>G p.S1361R Missense 32/49 - 1
12-133225581-G-T c.4083C>A p.S1361R Missense 32/49 - 1
12-133225583-T-G c.4081A>C p.S1361R Missense 32/49 - 1
12-133225609-C-G c.4055G>C p.G1352A Missense 32/49 - 1
12-133225613-C-T c.4051G>A p.V1351I Missense 32/49 - 1
12-133225624-A-G c.4040T>C p.L1347P Missense 32/49 - 1
12-133225636-C-T c.4028G>A p.G1343D Missense 32/49 - 1
12-133225637-C-T c.4027G>A p.G1343S Missense 32/49 - 2
12-133225642-T-A c.4022A>T p.Q1341L Missense 32/49 - 1
12-133225713-C-A c.4006-55G>T - IntronicSNV - 31/48 1
12-133225713-C-T c.4006-55G>A - IntronicSNV - 31/48 1
12-133225890-A-T c.4005+2T>A - IntronicSNV - 31/48 1
12-133225892-C-A c.4005G>T p.Q1335H Missense 31/49 - 1
12-133225892-C-G c.4005G>C p.Q1335H Missense 31/49 - 1
12-133225894-G-A c.4003C>T p.Q1335* Nonsense 31/49 - 2
12-133225901-C-A c.3996G>T p.Q1332H Missense 31/49 - 2
12-133225901-C-G c.3996G>C p.Q1332H Missense 31/49 - 2
12-133225904-C-A c.3993G>T p.W1331C Missense 31/49 - 1
12-133225904-C-G c.3993G>C p.W1331C Missense 31/49 - 1
12-133225908-G-A c.3989C>T p.P1330L Missense 31/49 - 1
12-133225918-G-T c.3979C>A p.L1327M Missense 31/49 - 2
12-133225926-C-T c.3971G>A p.R1324H Missense 31/49 - 3
12-133225927-G-A c.3970C>T p.R1324C Missense 31/49 - 2
12-133225929-G-A c.3968C>T p.A1323V Missense 31/49 - 1
12-133225933-T-C c.3964A>G p.T1322A Missense 31/49 - 1
12-133225935-C-T c.3962G>A p.R1321K Missense 31/49 - 2
12-133225939-G-A c.3958C>T p.R1320* Nonsense 31/49 - 1
12-133225942-A-C c.3955T>G p.L1319V Missense 31/49 - 1
12-133225959-G-A c.3938C>T p.T1313M Missense 31/49 - 1
12-133225971-T-C c.3926A>G p.D1309G Missense 31/49 - 1
12-133225975-G-A c.3922C>T p.R1308W Missense 31/49 - 2
12-133225983-C-A c.3914G>T p.G1305V Missense 31/49 - 1
12-133225984-C-A c.3913G>T p.G1305W Missense 31/49 - 1
12-133225984-C-T c.3913G>A p.G1305R Missense 31/49 - 1
12-133225980-GC-G c.3916del p.A1306Pfs*55 Frameshift 31/49 - 1
12-133226002-C-G c.3895G>C p.E1299Q Missense 31/49 - 2
12-133226003-TGC-ACA c.3892_3894delinsTGT p.A1298C Missense 31/49 - 2
12-133226005-C-T c.3892G>A p.A1298T Missense 31/49 - 1
12-133226006-C-A c.3891G>T p.S1297= Synonymous 31/49 - 1
12-133226007-G-A c.3890C>T p.S1297L Missense 31/49 - 2
12-133226007-G-T c.3890C>A p.S1297* Nonsense 31/49 - 1
12-133226011-C-T c.3886G>A p.E1296K Missense 31/49 - 1
12-133226016-C-A c.3881G>T p.R1294L Missense 31/49 - 1
12-133226017-G-A c.3880C>T p.R1294C Missense 31/49 - 1
12-133226031-C-A c.3866G>T p.R1289L Missense 31/49 - 1
12-133226031-C-T c.3866G>A p.R1289H Missense 31/49 - 1
12-133226032-G-T c.3865C>A p.R1289S Missense 31/49 - 1
12-133226032-G-A c.3865C>T p.R1289C Missense 31/49 - 1
12-133226035-C-T c.3862G>A p.A1288T Missense 31/49 - 2
12-133226040-C-T c.3857G>A p.R1286H Missense 31/49 - 4
12-133226041-G-A c.3856C>T p.R1286C Missense 31/49 - 1
12-133226044-G-T c.3853C>A p.Q1285K Missense 31/49 - 2
12-133226046-C-A c.3851G>T p.R1284L Missense 31/49 - 1
12-133226046-C-T c.3851G>A p.R1284Q Missense 31/49 - 3
12-133226047-G-A c.3850C>T p.R1284W Missense 31/49 - 1
12-133226069-C-G c.3828G>C p.K1276N Missense 31/49 - 1
12-133226069-C-A c.3828G>T p.K1276N Missense 31/49 - 1
12-133226080-G-A c.3817C>T p.R1273W Missense 31/49 - 1
12-133226089-C-G c.3808G>C p.V1270L Missense 31/49 - 1
12-133226089-C-A c.3808G>T p.V1270F Missense 31/49 - 1
12-133226091-A-T c.3806T>A p.L1269H Missense 31/49 - 2
12-133226098-C-A c.3799G>T p.E1267* Nonsense 31/49 - 1
12-133226101-C-T c.3796G>A p.E1266K Missense 31/49 - 1
12-133226267-C-T c.3791G>A p.S1264N Missense 30/49 - 1
12-133226280-C-A c.3778G>T p.A1260S Missense 30/49 - 1
12-133226280-C-T c.3778G>A p.A1260T Missense 30/49 - 1
12-133226282-G-A c.3776C>T p.P1259L Missense 30/49 - 2
12-133226289-G-A c.3769C>T p.Q1257* Nonsense 30/49 - 1
12-133226289-GCC-G c.3767_3768del p.G1256Afs*98 Frameshift 30/49 - 1
12-133226295-A-C c.3763T>G p.L1255V Missense 30/49 - 2
12-133226297-AT-A c.3760del p.I1254Sfs*107 Frameshift 30/49 - 1
12-133226305-C-T c.3753G>A p.W1251* Nonsense 30/49 - 1
12-133226306-C-T c.3752G>A p.W1251* Nonsense 30/49 - 1
12-133226318-G-A c.3740C>T p.P1247L Missense 30/49 - 1
12-133226321-G-A c.3737C>T p.T1246M Missense 30/49 - 1
12-133226324-A-T c.3734T>A p.L1245H Missense 30/49 - 1
12-133226325-G-A c.3733C>T p.L1245F Missense 30/49 - 1
12-133226335-C-G c.3723G>C p.E1241D Missense 30/49 - 2
12-133226335-C-A c.3723G>T p.E1241D Missense 30/49 - 1
12-133226340-C-T c.3718G>A p.E1240K Missense 30/49 - 2
12-133226345-C-T c.3713G>A p.S1238N Missense 30/49 - 1
12-133226355-G-A c.3703C>T p.L1235F Missense 30/49 - 1
12-133226355-G-T c.3703C>A p.L1235I Missense 30/49 - 2
12-133226361-G-A c.3697C>T p.R1233* Nonsense 30/49 - 1
12-133226375-G-T c.3683C>A p.T1228N Missense 30/49 - 1
12-133226378-A-T c.3680T>A p.V1227D Missense 30/49 - 1
12-133226381-G-A c.3677C>T p.P1226L Missense 30/49 - 1
12-133226388-C-T c.3670G>A p.A1224T Missense 30/49 - 1
12-133226399-A-G c.3659T>C p.L1220P Missense 30/49 - 1
12-133226406-C-G c.3652G>C p.V1218L Missense 30/49 - 2
12-133226406-C-A c.3652G>T p.V1218L Missense 30/49 - 2
12-133226406-C-T c.3652G>A p.V1218I Missense 30/49 - 1
12-133226409-G-A c.3649C>T p.L1217F Missense 30/49 - 1
12-133226412-C-T c.3646G>A p.G1216S Missense 30/49 - 1
12-133226416-G-C c.3642C>G p.D1214E Missense 30/49 - 1
12-133226416-G-T c.3642C>A p.D1214E Missense 30/49 - 1
12-133226417-T-G c.3641A>C p.D1214A Missense 30/49 - 1
12-133226421-C-G c.3637G>C p.E1213Q Missense 30/49 - 1
12-133226423-A-G c.3635T>C p.M1212T Missense 30/49 - 2
12-133226426-T-C c.3632A>G p.D1211G Missense 30/49 - 1
12-133226432-G-T c.3626C>A p.A1209D Missense 30/49 - 1
12-133226433-C-T c.3625G>A p.A1209T Missense 30/49 - 1
12-133226439-G-A c.3619C>T p.P1207S Missense 30/49 - 3
12-133226444-G-A c.3614C>T p.P1205L Missense 30/49 - 3
12-133226445-G-A c.3613C>T p.P1205S Missense 30/49 - 1
12-133226445-G-T c.3613C>A p.P1205T Missense 30/49 - 1
12-133226448-T-TA c.3609_3610insT p.S1204* Nonsense 30/49 - 1
12-133226460-C-T c.3598G>A p.A1200T Missense 30/49 - 1
12-133226461-C-G c.3597G>C p.E1199D Missense 30/49 - 1
12-133226461-C-A c.3597G>T p.E1199D Missense 30/49 - 1
12-133226463-C-T c.3595G>A p.E1199K Missense 30/49 - 4
12-133226464-G-C c.3594C>G p.A1198= Synonymous 30/49 - 1
12-133226471-G-A c.3587C>T p.T1196M Missense 30/49 - 2
12-133226474-A-G c.3584T>C p.V1195A Missense 30/49 - 1
12-133226831-C-A c.3583-356G>T - IntronicSNV - 29/48 1
12-133226831-C-T c.3583-356G>A - IntronicSNV - 29/48 1
12-133231048-T-C c.3582+2674A>G - IntronicSNV - 29/48 2
12-133233717-G-A c.3582+5C>T - IntronicSNV - 29/48 1
12-133233726-C-G c.3578G>C p.R1193T Missense 29/49 - 1
12-133233736-C-T c.3568G>A p.E1190K Missense 29/49 - 1
12-133233761-C-G c.3543G>C p.K1181N Missense 29/49 - 1
12-133233761-C-A c.3543G>T p.K1181N Missense 29/49 - 1
12-133233763-T-C c.3541A>G p.K1181E Missense 29/49 - 1
12-133233764-C-T c.3540G>A p.Q1180= Synonymous 29/49 - 1
12-133233777-T-C c.3527A>G p.D1176G Missense 29/49 - 1
12-133233793-G-GT c.3510dup p.L1171Tfs*6 Frameshift 29/49 - 1
12-133233793-GT-G c.3510del p.K1170Nfs*49 Frameshift 29/49 - 1
12-133233802-G-GTTTGACC c.3501_3502insGGTCAAA p.H1168Gfs*11 Frameshift 29/49 - 1
12-133233811-C-A c.3493G>T p.D1165Y Missense 29/49 - 1
12-133233813-G-A c.3491C>T p.P1164L Missense 29/49 - 2
12-133233814-G-C c.3490C>G p.P1164A Missense 29/49 - 1
12-133233825-C-T c.3479G>A p.R1160H Missense 29/49 - 1
12-133233829-G-A c.3475C>T p.P1159S Missense 29/49 - 1
12-133233836-G-C c.3468C>G p.N1156K Missense 29/49 - 1
12-133233836-G-T c.3468C>A p.N1156K Missense 29/49 - 1
12-133233833-TG-T c.3470del p.P1157Qfs*62 Frameshift 29/49 - 1
12-133233837-T-A c.3467A>T p.N1156I Missense 29/49 - 1
12-133233841-T-A c.3463A>T p.K1155* Nonsense 29/49 - 1
12-133233939-T-A c.3455A>T p.Q1152L Missense 28/49 - 1
12-133233943-G-T c.3451C>A p.L1151M Missense 28/49 - 1
12-133233948-G-A c.3446C>T p.A1149V Missense 28/49 - 1
12-133233951-G-T c.3443C>A p.P1148H Missense 28/49 - 1
12-133233952-G-A c.3442C>T p.P1148S Missense 28/49 - 1
12-133233957-G-A c.3437C>T p.T1146I Missense 28/49 - 1
12-133233976-C-T c.3418G>A p.A1140T Missense 28/49 - 2
12-133233981-C-T c.3413G>A p.G1138E Missense 28/49 - 1
12-133233982-C-T c.3412G>A p.G1138R Missense 28/49 - 1
12-133233982-C-G c.3412G>C p.G1138R Missense 28/49 - 1
12-133233985-G-T c.3409C>A p.L1137M Missense 28/49 - 1
12-133233988-G-A c.3406C>T p.R1136W Missense 28/49 - 1
12-133234001-G-C c.3393C>G p.D1131E Missense 28/49 - 1
12-133234001-G-T c.3393C>A p.D1131E Missense 28/49 - 1
12-133234008-T-C c.3386A>G p.D1129G Missense 28/49 - 1
12-133234456-C-A c.3376G>T p.A1126S Missense 27/49 - 1
12-133234459-G-A c.3373C>T p.R1125* Nonsense 27/49 - 1
12-133234465-C-T c.3367G>A p.D1123N Missense 27/49 - 2
12-133234465-C-G c.3367G>C p.D1123H Missense 27/49 - 1
12-133234467-A-C c.3365T>G p.F1122C Missense 27/49 - 1
12-133234473-T-G c.3359A>C p.Q1120P Missense 27/49 - 1
12-133234476-A-G c.3356T>C p.L1119P Missense 27/49 - 1
12-133234477-G-A c.3355C>T p.L1119F Missense 27/49 - 1
12-133234482-G-A c.3350C>T p.S1117F Missense 27/49 - 1
12-133234500-C-T c.3332G>A p.R1111Q Missense 27/49 - 2
12-133234501-G-A c.3331C>T p.R1111W Missense 27/49 - 1
12-133234521-G-A c.3311C>T p.T1104M Missense 27/49 - 2
12-133234525-GGC-G c.3306_3307del p.E1102Dfs*21 Frameshift 27/49 - 1
12-133234542-G-A c.3290C>T p.A1097V Missense 27/49 - 1
12-133234549-G-A c.3283C>T p.P1095S Missense 27/49 - 1
12-133234555-C-T c.3277G>A p.A1093T Missense 27/49 - 1
12-133235867-GGGGGAGCCCTCACCTCTCCGTGACA-G c.3264_3275+13del - SpliceDonorDeletion 26/49 26/48 1
12-133235881-C-T c.3275G>A p.R1092K Missense 26/49 - 1
12-133235883-C-G c.3273G>C p.E1091D Missense 26/49 - 1
12-133235883-C-A c.3273G>T p.E1091D Missense 26/49 - 1
12-133235885-C-A c.3271G>T p.E1091* Nonsense 26/49 - 1
12-133235894-G-T c.3262C>A p.P1088T Missense 26/49 - 1
12-133235892-A-AG c.3263dup p.V1089Cfs*35 Frameshift 26/49 - 1
12-133235900-C-T c.3256G>A p.G1086S Missense 26/49 - 2
12-133235903-C-T c.3253G>A p.E1085K Missense 26/49 - 1
12-133235905-G-A c.3251C>T p.P1084L Missense 26/49 - 1
12-133235911-C-T c.3245G>A p.R1082H Missense 26/49 - 1
12-133235912-G-T c.3244C>A p.R1082S Missense 26/49 - 1
12-133235911-CG-C c.3244del p.R1082Afs*24 Frameshift 26/49 - 1
12-133235914-G-A c.3242C>T p.S1081F Missense 26/49 - 1
12-133235926-C-T c.3230G>A p.R1077H Missense 26/49 - 1
12-133235927-G-A c.3229C>T p.R1077C Missense 26/49 - 1
12-133235930-A-T c.3226T>A p.C1076S Missense 26/49 - 1
12-133235929-C-G c.3227G>C p.C1076S Missense 26/49 - 1
12-133235938-C-T c.3218G>A p.G1073E Missense 26/49 - 1
12-133235939-C-A c.3217G>T p.G1073W Missense 26/49 - 1
12-133235941-G-A c.3215C>T p.A1072V Missense 26/49 - 1
12-133235942-C-A c.3214G>T p.A1072S Missense 26/49 - 1
12-133235942-C-T c.3214G>A p.A1072T Missense 26/49 - 1
12-133235946-C-G c.3210G>C p.K1070N Missense 26/49 - 1
12-133235946-C-A c.3210G>T p.K1070N Missense 26/49 - 2
12-133235953-A-G c.3203T>C p.M1068T Missense 26/49 - 1
12-133235962-C-A c.3194G>T p.G1065V Missense 26/49 - 1
12-133235970-C-G c.3186G>C p.E1062D Missense 26/49 - 1
12-133235972-C-T c.3184G>A p.E1062K Missense 26/49 - 1
12-133235974-G-A c.3182C>T p.A1061V Missense 26/49 - 1
12-133235975-C-T c.3181G>A p.A1061T Missense 26/49 - 1
12-133235980-C-T c.3176G>A p.R1059H Missense 26/49 - 3
12-133235982-C-G c.3174G>C p.K1058N Missense 26/49 - 1
12-133235982-C-A c.3174G>T p.K1058N Missense 26/49 - 1
12-133235987-C-T c.3169G>A p.A1057T Missense 26/49 - 1
12-133235998-G-C c.3158C>G p.S1053C Missense 26/49 - 1
12-133235998-G-A c.3158C>T p.S1053F Missense 26/49 - 1
12-133236000-C-T c.3156G>A p.T1052= Synonymous 26/49 - 2
12-133236000-C-A c.3156G>T p.T1052= Synonymous 26/49 - 1
12-133236000-C-G c.3156G>C p.T1052= Synonymous 26/49 - 1
12-133236001-G-A c.3155C>T p.T1052M Missense 26/49 - 1
12-133236009-C-A c.3147G>T p.Q1049H Missense 26/49 - 1
12-133236017-C-A c.3139G>T p.G1047W Missense 26/49 - 1
12-133236019-T-C c.3137A>G p.Y1046C Missense 26/49 - 1
12-133236034-C-T c.3122G>A p.R1041Q Missense 26/49 - 1
12-133236037-G-T c.3119C>A p.S1040Y Missense 26/49 - 1
12-133236041-TG-T c.3114del p.M1039Cfs*36 Frameshift 26/49 - 1
12-133236046-C-T c.3110G>A p.R1037H Missense 26/49 - 1
12-133236047-G-A c.3109C>T p.R1037C Missense 26/49 - 3
12-133236047-G-T c.3109C>A p.R1037S Missense 26/49 - 1
12-133236048-G-C c.3108C>G p.N1036K Missense 26/49 - 1
12-133236048-G-T c.3108C>A p.N1036K Missense 26/49 - 1
12-133236053-C-T c.3103G>A p.E1035K Missense 26/49 - 1
12-133236062-G-A c.3094C>T p.L1032F Missense 26/49 - 2
12-133236065-C-T c.3091G>A p.E1031K Missense 26/49 - 1
12-133236066-G-T c.3090C>A p.F1030L Missense 26/49 - 1
12-133236067-A-T c.3089T>A p.F1030Y Missense 26/49 - 1
12-133236074-C-A c.3082G>T p.E1028* Nonsense 26/49 - 1
12-133236076-G-C c.3080C>G p.S1027C Missense 26/49 - 1
12-133236077-A-G c.3079T>C p.S1027P Missense 26/49 - 1
12-133237560-T-C c.3055A>G p.S1019G Missense 25/49 - 1
12-133237569-C-T c.3046G>A p.V1016M Missense 25/49 - 3
12-133237570-G-C c.3045C>G p.D1015E Missense 25/49 - 1
12-133237570-G-T c.3045C>A p.D1015E Missense 25/49 - 1
12-133237577-C-T c.3038G>A p.W1013* Nonsense 25/49 - 2
12-133237576-C-T c.3039G>A p.W1013* Nonsense 25/49 - 1
12-133237587-C-T c.3028G>A p.A1010T Missense 25/49 - 2
12-133237591-C-G c.3024G>C p.K1008N Missense 25/49 - 1
12-133237591-C-A c.3024G>T p.K1008N Missense 25/49 - 1
12-133237596-C-G c.3019G>C p.A1007P Missense 25/49 - 1
12-133237601-G-A c.3014C>T p.S1005F Missense 25/49 - 1
12-133237607-T-C c.3008A>G p.Y1003C Missense 25/49 - 1
12-133237610-A-G c.3005T>C p.V1002A Missense 25/49 - 2
12-133237614-C-T c.3001G>A p.E1001K Missense 25/49 - 1
12-133237629-C-T c.2986G>A p.G996S Missense 25/49 - 1
12-133237640-G-A c.2975C>T p.A992V Missense 25/49 - 1
12-133237641-C-T c.2974G>A p.A992T Missense 25/49 - 4
12-133237644-C-G c.2971G>C p.E991Q Missense 25/49 - 1
12-133237646-A-C c.2969T>G p.F990C Missense 25/49 - 2
12-133237646-A-G c.2969T>C p.F990S Missense 25/49 - 1
12-133237652-G-T c.2963C>A p.S988* Nonsense 25/49 - 1
12-133237655-G-A c.2960C>T p.S987F Missense 25/49 - 1
12-133237655-G-T c.2960C>A p.S987Y Missense 25/49 - 1
12-133237658-T-C c.2957A>G p.Q986R Missense 25/49 - 1
12-133237659-G-A c.2956C>T p.Q986* Nonsense 25/49 - 1
12-133237662-A-G c.2953T>C p.F985L Missense 25/49 - 1
12-133237660-G-T c.2955C>A p.F985L Missense 25/49 - 1
12-133237660-G-C c.2955C>G p.F985L Missense 25/49 - 1
12-133237666-C-G c.2949G>C p.K983N Missense 25/49 - 1
12-133237666-C-A c.2949G>T p.K983N Missense 25/49 - 1
12-133237676-T-G c.2939A>C p.Q980P Missense 25/49 - 1
12-133237680-G-A c.2935C>T p.L979= Synonymous 25/49 - 1
12-133237681-T-G c.2934A>C p.E978D Missense 25/49 - 1
12-133237681-T-A c.2934A>T p.E978D Missense 25/49 - 1
12-133237682-T-C c.2933A>G p.E978G Missense 25/49 - 1
12-133237686-C-T c.2929G>A p.G977R Missense 25/49 - 2
12-133237686-C-A c.2929G>T p.G977W Missense 25/49 - 1
12-133237688-C-T c.2927G>A p.R976H Missense 25/49 - 2
12-133237689-G-A c.2926C>T p.R976C Missense 25/49 - 3
12-133237689-G-T c.2926C>A p.R976S Missense 25/49 - 1
12-133237692-G-A c.2923C>T p.R975C Missense 25/49 - 2
12-133237700-T-C c.2915A>G p.E972G Missense 25/49 - 1
12-133237701-C-G c.2914G>C p.E972Q Missense 25/49 - 2
12-133237716-C-G c.2899G>C p.E967Q Missense 25/49 - 1
12-133237718-G-A c.2897C>T p.A966V Missense 25/49 - 2
12-133237724-G-A c.2891C>T p.S964F Missense 25/49 - 1
12-133237728-C-G c.2887G>C p.G963R Missense 25/49 - 1
12-133237736-T-G c.2879A>C p.N960T Missense 25/49 - 1
12-133237742-A-G c.2873T>C p.V958A Missense 25/49 - 1
12-133237745-G-A c.2870C>T p.A957V Missense 25/49 - 2
12-133237748-T-A c.2867A>T p.Y956F Missense 25/49 - 1
12-133237749-A-G c.2866T>C p.Y956H Missense 25/49 - 1
12-133237750-C-G c.2865G>C p.R955S Missense 25/49 - 2
12-133237750-C-A c.2865G>T p.R955S Missense 25/49 - 2
12-133238113-C-A c.2864G>T p.R955M Missense 24/49 - 1
12-133238143-G-A c.2834C>T p.S945F Missense 24/49 - 1
12-133238146-G-A c.2831C>T p.A944V Missense 24/49 - 1
12-133238150-G-A c.2827C>T p.P943S Missense 24/49 - 1
12-133238168-A-T c.2809T>A p.Y937N Missense 24/49 - 1
12-133238173-C-T c.2804G>A p.G935E Missense 24/49 - 1
12-133238183-C-A c.2794G>T p.E932* Nonsense 24/49 - 1
12-133238185-A-G c.2792T>C p.F931S Missense 24/49 - 2
12-133238192-T-C c.2785A>G p.I929V Missense 24/49 - 1
12-133238194-C-A c.2783G>T p.S928I Missense 24/49 - 1
12-133238203-G-A c.2774C>T p.S925L Missense 24/49 - 1
12-133238206-C-T c.2771G>A p.R924H Missense 24/49 - 1
12-133238207-G-A c.2770C>T p.R924C Missense 24/49 - 1
12-133238222-G-A c.2755C>T p.L919F Missense 24/49 - 1
12-133238230-G-A c.2747C>T p.P916L Missense 24/49 - 1
12-133238231-G-A c.2746C>T p.P916S Missense 24/49 - 3
12-133238234-C-T c.2743G>A p.E915K Missense 24/49 - 1
12-133238236-G-A c.2741C>T p.A914V Missense 24/49 - 1
12-133238260-G-A c.2717C>T p.T906I Missense 24/49 - 2
12-133240590-C-G c.2706G>C p.K902N Missense 23/49 - 1
12-133240590-C-A c.2706G>T p.K902N Missense 23/49 - 1
12-133240597-A-G c.2699T>C p.M900T Missense 23/49 - 1
12-133240613-C-T c.2683G>A p.A895T Missense 23/49 - 3
12-133240615-C-A c.2681G>T p.G894V Missense 23/49 - 1
12-133240616-C-T c.2680G>A p.G894S Missense 23/49 - 2
12-133240618-G-A c.2678C>T p.P893L Missense 23/49 - 1
12-133240624-G-A c.2672C>T p.S891F Missense 23/49 - 1
12-133240633-A-G c.2663T>C p.V888A Missense 23/49 - 1
12-133240637-T-G c.2659A>C p.K887Q Missense 23/49 - 1
12-133240639-G-A c.2657C>T p.P886L Missense 23/49 - 1
12-133240640-G-A c.2656C>T p.P886S Missense 23/49 - 1
12-133240644-C-G c.2652G>C p.K884N Missense 23/49 - 1
12-133240644-C-A c.2652G>T p.K884N Missense 23/49 - 1
12-133240645-T-C c.2651A>G p.K884R Missense 23/49 - 1
12-133240651-T-A c.2645A>T p.N882I Missense 23/49 - 1
12-133240651-T-C c.2645A>G p.N882S Missense 23/49 - 2
12-133240661-T-C c.2635A>G p.K879E Missense 23/49 - 1
12-133240667-C-G c.2629G>C p.V877L Missense 23/49 - 1
12-133240672-T-G c.2624A>C p.N875T Missense 23/49 - 1
12-133240678-G-T c.2618C>A p.P873Q Missense 23/49 - 1
12-133240679-G-A c.2617C>T p.P873S Missense 23/49 - 1
12-133240694-G-T c.2602C>A p.L868M Missense 23/49 - 2
12-133240697-C-T c.2599G>A p.V867I Missense 23/49 - 1
12-133240704-T-C c.2592A>G p.I864M Missense 23/49 - 1
12-133240708-C-A c.2588G>T p.G863V Missense 23/49 - 1
12-133240729-G-T c.2567C>A p.P856H Missense 23/49 - 1
12-133240732-C-G c.2564G>C p.R855T Missense 23/49 - 1
12-133240734-C-A c.2562G>T p.G854= Synonymous 23/49 - 1
12-133240734-C-T c.2562G>A p.G854= Synonymous 23/49 - 1
12-133240734-C-G c.2562G>C p.G854= Synonymous 23/49 - 1
12-133240966-C-G c.2551G>C p.E851Q Missense 22/49 - 1
12-133240977-C-T c.2540G>A p.R847Q Missense 22/49 - 1
12-133240977-C-A c.2540G>T p.R847L Missense 22/49 - 1
12-133240978-G-A c.2539C>T p.R847W Missense 22/49 - 1
12-133240978-G-T c.2539C>A p.R847= Synonymous 22/49 - 1
12-133240981-C-G c.2536G>C p.A846P Missense 22/49 - 1
12-133240990-T-C c.2527A>G p.I843V Missense 22/49 - 3
12-133240986-GTGA-G c.2528_2530del p.I843del InFrameDeletion 22/49 - 1
12-133240996-T-C c.2521A>G p.N841D Missense 22/49 - 1
12-133241001-C-T c.2516G>A p.G839E Missense 22/49 - 1
12-133241001-C-A c.2516G>T p.G839V Missense 22/49 - 1
12-133241007-A-G c.2510T>C p.F837S Missense 22/49 - 2
12-133241019-C-A c.2498G>T p.G833V Missense 22/49 - 1
12-133241019-C-T c.2498G>A p.G833D Missense 22/49 - 1
12-133241023-C-T c.2494G>A p.A832T Missense 22/49 - 2
12-133241024-C-G c.2493G>C p.M831I Missense 22/49 - 1
12-133241024-C-T c.2493G>A p.M831I Missense 22/49 - 1
12-133241024-C-A c.2493G>T p.M831I Missense 22/49 - 1
12-133241027-C-A c.2490G>T p.E830D Missense 22/49 - 1
12-133241030-C-A c.2487G>T p.M829I Missense 22/49 - 1
12-133241032-T-A c.2485A>T p.M829L Missense 22/49 - 1
12-133241032-T-C c.2485A>G p.M829V Missense 22/49 - 1
12-133241039-C-T c.2478G>A p.W826* Nonsense 22/49 - 1
12-133241044-G-A c.2473C>T p.R825C Missense 22/49 - 1
12-133241046-G-A c.2471C>T p.A824V Missense 22/49 - 1
12-133241888-C-T c.2468G>A p.G823E Missense 21/49 - 1
12-133241894-C-T c.2462G>A p.R821H Missense 21/49 - 1
12-133241895-G-A c.2461C>T p.R821C Missense 21/49 - 4
12-133241898-T-A c.2458A>T p.M820L Missense 21/49 - 1
12-133241898-T-G c.2458A>C p.M820L Missense 21/49 - 1
12-133241907-C-A c.2449G>T p.G817C Missense 21/49 - 1
12-133241912-A-G c.2444T>C p.F815S Missense 21/49 - 1
12-133241913-A-G c.2443T>C p.F815L Missense 21/49 - 1
12-133241911-G-T c.2445C>A p.F815L Missense 21/49 - 2
12-133241911-G-C c.2445C>G p.F815L Missense 21/49 - 1
12-133241915-G-A c.2441C>T p.S814F Missense 21/49 - 1
12-133241922-G-T c.2434C>A p.L812M Missense 21/49 - 1
12-133241924-A-G c.2432T>C p.I811T Missense 21/49 - 1
12-133241952-C-G c.2404G>C p.D802H Missense 21/49 - 1
12-133241952-C-T c.2404G>A p.D802N Missense 21/49 - 1
12-133241954-T-C c.2402A>G p.Y801C Missense 21/49 - 2
12-133241978-C-G c.2378G>C p.R793P Missense 21/49 - 1
12-133241978-C-T c.2378G>A p.R793H Missense 21/49 - 1
12-133241979-G-A c.2377C>T p.R793C Missense 21/49 - 4
12-133241987-T-C c.2369A>G p.E790G Missense 21/49 - 1
12-133241993-G-A c.2363C>T p.A788V Missense 21/49 - 1
12-133241997-C-T c.2359G>A p.D787N Missense 21/49 - 1
12-133241998-G-A c.2358C>T p.G786= Synonymous 21/49 - 1
12-133241998-G-C c.2358C>G p.G786= Synonymous 21/49 - 1
12-133241998-G-T c.2358C>A p.G786= Synonymous 21/49 - 1
12-133242009-C-T c.2347G>A p.V783M Missense 21/49 - 1
12-133242011-G-A c.2345C>T p.A782V Missense 21/49 - 1
12-133242014-G-A c.2342C>T p.A781V Missense 21/49 - 1
12-133242015-C-A c.2341G>T p.A781S Missense 21/49 - 2
12-133242017-G-A c.2339C>T p.S780L Missense 21/49 - 2
12-133242025-C-G c.2331G>C p.K777N Missense 21/49 - 2
12-133242025-C-A c.2331G>T p.K777N Missense 21/49 - 2
12-133242021-GCTT-G c.2332_2334del p.K778del InFrameDeletion 21/49 - 1
12-133242030-T-C c.2326A>G p.K776E Missense 21/49 - 1
12-133242032-C-A c.2324G>T p.W775L Missense 21/49 - 1
12-133242032-C-T c.2324G>A p.W775* Nonsense 21/49 - 1
12-133242733-C-A c.2320-697G>T - IntronicSNV - 20/48 1
12-133242733-C-T c.2320-697G>A - IntronicSNV - 20/48 1
12-133243621-A-G c.2319+468T>C - IntronicSNV - 20/48 1
12-133244094-G-T c.2314C>A p.H772N Missense 20/49 - 1
12-133244099-C-A c.2309G>T p.G770V Missense 20/49 - 1
12-133244105-A-G c.2303T>C p.F768S Missense 20/49 - 2
12-133244107-C-G c.2301G>C p.E767D Missense 20/49 - 1
12-133244107-C-A c.2301G>T p.E767D Missense 20/49 - 1
12-133244110-G-GT c.2297dup p.Y766* Nonsense 20/49 - 1
12-133244114-C-T c.2294G>A p.R765H Missense 20/49 - 1
12-133244114-C-A c.2294G>T p.R765L Missense 20/49 - 1
12-133244117-C-A c.2291G>T p.R764M Missense 20/49 - 2
12-133244123-C-T c.2285G>A p.R762Q Missense 20/49 - 1
12-133244124-G-A c.2284C>T p.R762W Missense 20/49 - 6
12-133244129-G-A c.2279C>T p.A760V Missense 20/49 - 1
12-133244132-C-T c.2276G>A p.R759H Missense 20/49 - 2
12-133244133-G-A c.2275C>T p.R759C Missense 20/49 - 4
12-133244144-A-G c.2264T>C p.V755A Missense 20/49 - 1
12-133244150-AAGG-A c.2255_2257del p.S752del InFrameDeletion 20/49 - 1
12-133244162-C-T c.2246G>A p.R749Q Missense 20/49 - 1
12-133244162-C-A c.2246G>T p.R749L Missense 20/49 - 1
12-133244169-A-T c.2239T>A p.C747S Missense 20/49 - 1
12-133244168-C-G c.2240G>C p.C747S Missense 20/49 - 1
12-133244177-G-A c.2231C>T p.T744I Missense 20/49 - 1
12-133244183-C-T c.2225G>A p.R742H Missense 20/49 - 3
12-133244184-G-A c.2224C>T p.R742C Missense 20/49 - 4
12-133244189-TC-T c.2218del p.E740Kfs*52 Frameshift 20/49 - 1
12-133244193-C-G c.2215G>C p.V739L Missense 20/49 - 1
12-133244194-C-G c.2214G>C p.K738N Missense 20/49 - 1
12-133244194-C-A c.2214G>T p.K738N Missense 20/49 - 1
12-133244196-T-C c.2212A>G p.K738E Missense 20/49 - 1
12-133244197-GG-CA c.2210_2211delinsTG p.T737M Missense 20/49 - 1
12-133244204-T-A c.2204A>T p.H735L Missense 20/49 - 1
12-133244209-C-G c.2199G>C p.K733N Missense 20/49 - 1
12-133244209-C-A c.2199G>T p.K733N Missense 20/49 - 1
12-133244213-TT-GC c.2194_2195delinsGC p.K732A Missense 20/49 - 1
12-133244278-C-T c.2174-44G>A - IntronicSNV - 19/48 1
12-133244944-G-A c.2171C>T p.A724V Missense 19/49 - 7
12-133244949-C-T c.2166G>A p.R722= Synonymous 19/49 - 1
12-133244951-T-G c.2164A>C p.R722= Synonymous 19/49 - 1
12-133244953-C-G c.2162G>C p.R721T Missense 19/49 - 1
12-133244959-T-A c.2156A>T p.E719V Missense 19/49 - 1
12-133244960-C-T c.2155G>A p.E719K Missense 19/49 - 1
12-133244962-T-C c.2153A>G p.Y718C Missense 19/49 - 1
12-133244964-T-G c.2151A>C p.K717N Missense 19/49 - 2
12-133244964-T-A c.2151A>T p.K717N Missense 19/49 - 2
12-133244968-G-A c.2147C>T p.A716V Missense 19/49 - 1
12-133244969-C-A c.2146G>T p.A716S Missense 19/49 - 1
12-133244972-G-C c.2143C>G p.Q715E Missense 19/49 - 1
12-133244976-C-T c.2139G>A p.E713= Synonymous 19/49 - 1
12-133244978-C-A c.2137G>T p.E713* Nonsense 19/49 - 1
12-133244980-C-T c.2135G>A p.R712H Missense 19/49 - 2
12-133244980-C-A c.2135G>T p.R712L Missense 19/49 - 1
12-133244981-G-A c.2134C>T p.R712C Missense 19/49 - 1
12-133244984-A-G c.2131T>C p.S711P Missense 19/49 - 1
12-133244992-T-C c.2123A>G p.H708R Missense 19/49 - 1
12-133245002-G-A c.2113C>T p.R705W Missense 19/49 - 2
12-133245005-C-T c.2110G>A p.A704T Missense 19/49 - 1
12-133245008-G-A c.2107C>T p.P703S Missense 19/49 - 1
12-133245011-C-T c.2104G>A p.G702R Missense 19/49 - 1
12-133245011-C-G c.2104G>C p.G702R Missense 19/49 - 1
12-133245012-C-G c.2103G>C p.E701D Missense 19/49 - 1
12-133245012-C-A c.2103G>T p.E701D Missense 19/49 - 1
12-133245017-G-A c.2098C>T p.P700S Missense 19/49 - 1
12-133245020-A-AC c.2094dup p.F699Vfs*11 Frameshift 19/49 - 2
12-133245021-CA-C c.2093del p.L698Cfs*94 Frameshift 19/49 - 1
12-133245025-G-A c.2090C>T p.P697L Missense 19/49 - 1
12-133245025-G-C c.2090C>G p.P697R Missense 19/49 - 2
12-133245025-G-T c.2090C>A p.P697H Missense 19/49 - 1
12-133245026-G-C c.2089C>G p.P697A Missense 19/49 - 3
12-133245026-G-A c.2089C>T p.P697S Missense 19/49 - 2
12-133245028-G-A c.2087C>T p.P696L Missense 19/49 - 1
12-133245029-G-A c.2086C>T p.P696S Missense 19/49 - 1
12-133245023-AG-A c.2091del p.L698Cfs*94 Frameshift 19/49 - 2
12-133245023-A-AG c.2091dup p.F699Vfs*11 Frameshift 19/49 - 3
12-133245030-G-A c.2085C>T p.F695= Synonymous 19/49 - 1
12-133245031-A-T c.2084T>A p.F695Y Missense 19/49 - 1
12-133245032-A-T c.2083T>A p.F695I Missense 19/49 - 6
12-133245032-A-G c.2083T>C p.F695L Missense 19/49 - 3
12-133245030-G-T c.2085C>A p.F695L Missense 19/49 - 1
12-133245030-G-C c.2085C>G p.F695L Missense 19/49 - 1
12-133245032-A-C c.2083T>G p.F695V Missense 19/49 - 2
12-133245035-T-C c.2080A>G p.K694E Missense 19/49 - 1
12-133245045-C-G c.2070G>C p.L690= Synonymous 19/49 - 1
12-133245047-G-C c.2068C>G p.L690V Missense 19/49 - 1
12-133245061-C-T c.2054G>A p.R685Q Missense 19/49 - 2
12-133245062-G-A c.2053C>T p.R685W Missense 19/49 - 3
12-133245065-G-GT c.2049_2050insA p.H684Tfs*26 Frameshift 19/49 - 1
12-133245066-G-C c.2049C>G p.Y683* Nonsense 19/49 - 1
12-133245072-G-C c.2043C>G p.S681R Missense 19/49 - 2
12-133245072-G-T c.2043C>A p.S681R Missense 19/49 - 2
12-133245074-T-G c.2041A>C p.S681R Missense 19/49 - 2
12-133245077-G-A c.2038C>T p.R680C Missense 19/49 - 1
12-133245086-G-A c.2029C>T p.P677S Missense 19/49 - 1
12-133245222-G-A c.2025C>T p.F675= Synonymous 18/49 - 2
12-133245229-C-G c.2018G>C p.G673A Missense 18/49 - 1
12-133245232-C-A c.2015G>T p.R672M Missense 18/49 - 1
12-133245241-C-T c.2006G>A p.W669* Nonsense 18/49 - 1
12-133245240-C-T c.2007G>A p.W669* Nonsense 18/49 - 1
12-133245245-C-T c.2002G>A p.A668T Missense 18/49 - 1
12-133245254-G-A c.1993C>T p.R665W Missense 18/49 - 1
12-133245277-T-G c.1970A>C p.N657T Missense 18/49 - 1
12-133245277-T-C c.1970A>G p.N657S Missense 18/49 - 1
12-133245287-A-T c.1960T>A p.C654S Missense 18/49 - 1
12-133245286-C-G c.1961G>C p.C654S Missense 18/49 - 1
12-133245292-G-A c.1955C>T p.A652V Missense 18/49 - 1
12-133245296-A-T c.1951T>A p.C651S Missense 18/49 - 1
12-133245295-C-G c.1952G>C p.C651S Missense 18/49 - 1
12-133245305-C-T c.1942G>A p.E648K Missense 18/49 - 2
12-133245307-T-A c.1940A>T p.D647V Missense 18/49 - 1
12-133245308-C-T c.1939G>A p.D647N Missense 18/49 - 1
12-133245317-C-G c.1930G>C p.A644P Missense 18/49 - 1
12-133245320-AG-A c.1926del p.S643Lfs*149 Frameshift 18/49 - 1
12-133245323-G-C c.1924C>G p.P642A Missense 18/49 - 1
12-133245402-G-T c.1918C>A p.L640M Missense 17/49 - 1
12-133245404-C-T c.1916G>A p.R639H Missense 17/49 - 1
12-133245405-G-A c.1915C>T p.R639C Missense 17/49 - 1
12-133245414-G-T c.1906C>A p.L636M Missense 17/49 - 1
12-133245420-T-C c.1900A>G p.I634V Missense 17/49 - 1
12-133245425-G-C c.1895C>G p.P632R Missense 17/49 - 1
12-133245431-AT-CC c.1888_1889delinsGG p.M630G Missense 17/49 - 1
12-133245434-G-T c.1886C>A p.A629D Missense 17/49 - 1
12-133245437-C-A c.1883G>T p.G628V Missense 17/49 - 1
12-133245438-C-T c.1882G>A p.G628R Missense 17/49 - 1
12-133245438-C-G c.1882G>C p.G628R Missense 17/49 - 1
12-133245441-C-T c.1879G>A p.V627M Missense 17/49 - 1
12-133245452-T-C c.1868A>G p.Y623C Missense 17/49 - 1
12-133245459-G-A c.1861C>T p.L621F Missense 17/49 - 2
12-133245464-C-A c.1856G>T p.C619F Missense 17/49 - 1
12-133245464-C-T c.1856G>A p.C619Y Missense 17/49 - 2
12-133245468-C-A c.1852G>T p.E618* Nonsense 17/49 - 1
12-133245473-C-T c.1847G>A p.R616H Missense 17/49 - 2
12-133245474-G-A c.1846C>T p.R616C Missense 17/49 - 1
12-133245477-T-C c.1843A>G p.S615G Missense 17/49 - 1
12-133245479-G-A c.1841C>T p.P614L Missense 17/49 - 1
12-133245483-C-T c.1837G>A p.V613I Missense 17/49 - 1
12-133245492-G-T c.1828C>A p.L610M Missense 17/49 - 1
12-133245497-G-A c.1823C>T p.A608V Missense 17/49 - 1
12-133245498-C-A c.1822G>T p.A608S Missense 17/49 - 1
12-133245500-A-G c.1820T>C p.L607P Missense 17/49 - 1
12-133245501-G-A c.1819C>T p.L607F Missense 17/49 - 2
12-133245506-C-T c.1814G>A p.S605N Missense 17/49 - 1
12-133245519-C-T c.1801G>A p.D601N Missense 17/49 - 1
12-133245524-A-T c.1796T>A p.V599E Missense 17/49 - 1
12-133248802-T-C c.1793A>G p.E598G Missense 16/49 - 1
12-133248806-C-T c.1789G>A p.E597K Missense 16/49 - 1
12-133248811-T-C c.1784A>G p.N595S Missense 16/49 - 1
12-133248818-C-G c.1777G>C p.V593L Missense 16/49 - 1
12-133248835-T-C c.1760A>G p.K587R Missense 16/49 - 1
12-133248854-C-T c.1741G>A p.A581T Missense 16/49 - 1
12-133248854-C-G c.1741G>C p.A581P Missense 16/49 - 1
12-133248857-G-A c.1738C>T p.H580Y Missense 16/49 - 1
12-133248857-G-T c.1738C>A p.H580N Missense 16/49 - 3
12-133248859-C-T c.1736G>A p.R579H Missense 16/49 - 1
12-133248859-C-A c.1736G>T p.R579L Missense 16/49 - 1
12-133248860-G-A c.1735C>T p.R579C Missense 16/49 - 3
12-133248867-C-G c.1728G>C p.K576N Missense 16/49 - 1
12-133248867-C-A c.1728G>T p.K576N Missense 16/49 - 1
12-133248872-C-T c.1723G>A p.E575K Missense 16/49 - 2
12-133248872-C-G c.1723G>C p.E575Q Missense 16/49 - 1
12-133248877-C-A c.1718G>T p.R573L Missense 16/49 - 1
12-133248878-G-A c.1717C>T p.R573W Missense 16/49 - 1
12-133248899-C-T c.1696G>A p.A566T Missense 16/49 - 2
12-133248904-G-A c.1691C>T p.P564L Missense 16/49 - 1
12-133249181-G-C c.1686+32C>G - IntronicSNV - 15/48 3
12-133249181-G-A c.1686+32C>T - IntronicSNV - 15/48 1
12-133249212-C-T c.1686+1G>A - IntronicSNV - 15/48 1
12-133249214-A-G c.1685T>C p.M562T Missense 15/49 - 1
12-133249221-A-G c.1678T>C p.F560L Missense 15/49 - 1
12-133249219-A-T c.1680T>A p.F560L Missense 15/49 - 1
12-133249219-A-C c.1680T>G p.F560L Missense 15/49 - 1
12-133249224-G-A c.1675C>T p.R559W Missense 15/49 - 2
12-133249230-G-A c.1669C>T p.P557S Missense 15/49 - 1
12-133249233-T-C c.1666A>G p.I556V Missense 15/49 - 1
12-133249235-T-C c.1664A>G p.D555G Missense 15/49 - 1
12-133249242-G-A c.1657C>T p.R553C Missense 15/49 - 1
12-133249248-C-T c.1651G>A p.V551I Missense 15/49 - 1
12-133249247-AC-A c.1651del p.V551Ffs*12 Frameshift 15/49 - 1
12-133249251-C-A c.1648G>T p.G550W Missense 15/49 - 1
12-133249257-C-A c.1642G>T p.E548* Nonsense 15/49 - 1
12-133249259-A-T c.1640T>A p.L547H Missense 15/49 - 1
12-133249266-C-T c.1633G>A p.E545K Missense 15/49 - 1
12-133249269-C-A c.1630G>T p.V544L Missense 15/49 - 1
12-133249269-C-G c.1630G>C p.V544L Missense 15/49 - 1
12-133249269-C-T c.1630G>A p.V544M Missense 15/49 - 2
12-133249273-GCC-CTT c.1624_1626delinsAAG p.G542K Missense 15/49 - 1
12-133249277-C-T c.1622G>A p.G541E Missense 15/49 - 1
12-133249278-C-T c.1621G>A p.G541R Missense 15/49 - 1
12-133249278-C-G c.1621G>C p.G541R Missense 15/49 - 1
12-133249286-G-A c.1613C>T p.T538I Missense 15/49 - 1
12-133249288-C-G c.1611G>C p.E537D Missense 15/49 - 1
12-133249288-C-A c.1611G>T p.E537D Missense 15/49 - 1
12-133249289-T-C c.1610A>G p.E537G Missense 15/49 - 2
12-133249301-A-G c.1598T>C p.V533A Missense 15/49 - 1
12-133249302-C-G c.1597G>C p.V533L Missense 15/49 - 1
12-133249302-C-A c.1597G>T p.V533L Missense 15/49 - 1
12-133249302-C-T c.1597G>A p.V533M Missense 15/49 - 1
12-133249308-C-T c.1591G>A p.G531R Missense 15/49 - 1
12-133249308-C-G c.1591G>C p.G531R Missense 15/49 - 1
12-133249311-C-T c.1588G>A p.D530N Missense 15/49 - 1
12-133249314-C-A c.1585G>T p.D529Y Missense 15/49 - 2
12-133249314-C-T c.1585G>A p.D529N Missense 15/49 - 1
12-133249317-T-C c.1582A>G p.T528A Missense 15/49 - 1
12-133249340-T-C c.1559A>G p.Q520R Missense 15/49 - 1
12-133249342-C-A c.1557G>T p.K519N Missense 15/49 - 1
12-133249349-G-A c.1550C>T p.P517L Missense 15/49 - 1
12-133249357-G-A c.1542C>T p.I514= Synonymous 15/49 - 1
12-133249359-T-C c.1540A>G p.I514V Missense 15/49 - 1
12-133249361-T-C c.1538A>G p.N513S Missense 15/49 - 1
12-133249364-G-A c.1535C>T p.A512V Missense 15/49 - 1
12-133249377-G-A c.1522C>T p.Q508* Nonsense 15/49 - 1
12-133249383-T-C c.1516A>G p.M506V Missense 15/49 - 1
12-133249384-C-T c.1515G>A p.L505= Synonymous 15/49 - 1
12-133249410-A-G c.1489T>C p.S497P Missense 15/49 - 1
12-133249418-C-T c.1481G>A p.R494Q Missense 15/49 - 1
12-133249419-G-C c.1480C>G p.R494G Missense 15/49 - 1
12-133249419-G-A c.1480C>T p.R494W Missense 15/49 - 2
12-133249422-G-C c.1477C>G p.L493V Missense 15/49 - 1
12-133249749-C-A c.1473+1G>T - IntronicSNV - 14/48 1
12-133249751-T-C c.1472A>G p.E491G Missense 14/49 - 1
12-133249752-C-T c.1471G>A p.E491K Missense 14/49 - 2
12-133249753-G-A c.1470C>T p.D490= Synonymous 14/49 - 1
12-133249755-C-T c.1468G>A p.D490N Missense 14/49 - 1
12-133249757-G-A c.1466C>T p.P489L Missense 14/49 - 1
12-133249762-C-T c.1461G>A p.M487I Missense 14/49 - 1
12-133249764-T-C c.1459A>G p.M487V Missense 14/49 - 2
12-133249767-G-A c.1456C>T p.P486S Missense 14/49 - 1
12-133249775-G-A c.1448C>T p.T483I Missense 14/49 - 1
12-133249776-T-C c.1447A>G p.T483A Missense 14/49 - 1
12-133249784-G-A c.1439C>T p.A480V Missense 14/49 - 3
12-133249784-G-T c.1439C>A p.A480D Missense 14/49 - 2
12-133249789-G-C c.1434C>G p.I478M Missense 14/49 - 2
12-133249793-A-G c.1430T>C p.F477S Missense 14/49 - 1
12-133249796-G-A c.1427C>T p.P476L Missense 14/49 - 2
12-133249797-G-A c.1426C>T p.P476S Missense 14/49 - 1
12-133249797-G-T c.1426C>A p.P476T Missense 14/49 - 1
12-133249799-T-C c.1424A>G p.H475R Missense 14/49 - 1
12-133249800-G-A c.1423C>T p.H475Y Missense 14/49 - 2
12-133249802-A-G c.1421T>C p.V474A Missense 14/49 - 1
12-133249803-C-T c.1420G>A p.V474I Missense 14/49 - 3
12-133249805-T-C c.1418A>G p.Y473C Missense 14/49 - 1
12-133249810-C-A c.1413G>T p.M471I Missense 14/49 - 1
12-133249818-G-A c.1405C>T p.L469= Synonymous 14/49 - 1
12-133249818-G-C c.1405C>G p.L469V Missense 14/49 - 1
12-133249820-T-C c.1403A>G p.Y468C Missense 14/49 - 1
12-133249822-AG-A c.1401del p.Y468Tfs*4 Frameshift 14/49 - 1
12-133249827-T-C c.1396A>G p.T466A Missense 14/49 - 2
12-133249829-G-A c.1394C>T p.A465V Missense 14/49 - 12
12-133249829-GC-AA c.1393_1394delinsTT p.A465F Missense 14/49 - 1
12-133249830-C-T c.1393G>A p.A465T Missense 14/49 - 2
12-133249835-G-T c.1388C>A p.A463D Missense 14/49 - 1
12-133249836-C-A c.1387G>T p.A463S Missense 14/49 - 1
12-133249837-A-T c.1386T>A p.D462E Missense 14/49 - 1
12-133249839-C-A c.1384G>T p.D462Y Missense 14/49 - 2
12-133249839-C-T c.1384G>A p.D462N Missense 14/49 - 1
12-133249841-G-A c.1382C>T p.S461L Missense 14/49 - 4
12-133249842-A-G c.1381T>C p.S461P Missense 14/49 - 4
12-133249842-A-T c.1381T>A p.S461T Missense 14/49 - 1
12-133249847-G-A c.1376C>T p.S459F Missense 14/49 - 53
12-133249847-G-T c.1376C>A p.S459Y Missense 14/49 - 2
12-133249848-A-G c.1375T>C p.S459P Missense 14/49 - 1
12-133249850-T-C c.1373A>G p.Y458C Missense 14/49 - 2
12-133249850-T-A c.1373A>T p.Y458F Missense 14/49 - 8
12-133249851-A-G c.1372T>C p.Y458H Missense 14/49 - 1
12-133249851-A-T c.1372T>A p.Y458N Missense 14/49 - 1
12-133249852-C-T c.1371G>A p.T457= Synonymous 14/49 - 2
12-133249853-G-A c.1370C>T p.T457M Missense 14/49 - 8
12-133249853-GT-AG c.1369_1370delinsCT p.T457L Missense 14/49 - 1
12-133249853-G-C c.1370C>G p.T457R Missense 14/49 - 1
12-133249854-T-C c.1369A>G p.T457A Missense 14/49 - 1
12-133249856-G-T c.1367C>A p.A456D Missense 14/49 - 1
12-133249856-G-A c.1367C>T p.A456V Missense 14/49 - 3
12-133249856-G-C c.1367C>G p.A456G Missense 14/49 - 2
12-133249857-C-G c.1366G>C p.A456P Missense 14/49 - 45
12-133249857-C-T c.1366G>A p.A456T Missense 14/49 - 1
12-133249859-A-T c.1364T>A p.L455Q Missense 14/49 - 1
12-133249860-G-A c.1363C>T p.L455= Synonymous 14/49 - 1
12-133249862-G-A c.1361C>T p.T454I Missense 14/49 - 1
12-133250017-C-A c.1359+144G>T - IntronicSNV - 13/48 1
12-133250115-GA-G c.1359+46del - IntronicDeletion - 13/48 1
12-133250118-C-T c.1359+43G>A - IntronicSNV - 13/48 1
12-133250152-C-G c.1359+9G>C - IntronicSNV - 13/48 1
12-133250152-C-T c.1359+9G>A - IntronicSNV - 13/48 1
12-133250162-T-C c.1358A>G p.Q453R Missense 13/49 - 5
12-133250163-G-A c.1357C>T p.Q453* Nonsense 13/49 - 1
12-133250165-G-T c.1355C>A p.P452H Missense 13/49 - 1
12-133250166-G-A c.1354C>T p.P452S Missense 13/49 - 1
12-133250169-G-A c.1351C>T p.Q451* Nonsense 13/49 - 1
12-133250171-T-C c.1349A>G p.E450G Missense 13/49 - 1
12-133250174-G-A c.1346C>T p.T449M Missense 13/49 - 5
12-133250178-C-T c.1342G>A p.A448T Missense 13/49 - 2
12-133250182-CC-AT c.1337_1338delinsAT p.R446H Missense 13/49 - 1
12-133250183-C-T c.1337G>A p.R446Q Missense 13/49 - 6
12-133250183-C-G c.1337G>C p.R446P Missense 13/49 - 1
12-133250184-G-A c.1336C>T p.R446W Missense 13/49 - 5
12-133250186-C-T c.1334G>A p.C445Y Missense 13/49 - 1
12-133250188-C-T c.1332G>A p.M444I Missense 13/49 - 1
12-133250189-A-T c.1331T>A p.M444K Missense 13/49 - 17
12-133250193-C-T c.1327G>A p.D443N Missense 13/49 - 1
12-133250196-C-T c.1324G>A p.E442K Missense 13/49 - 1
12-133250197-C-T c.1323G>A p.P441= Synonymous 13/49 - 2
12-133250198-G-A c.1322C>T p.P441L Missense 13/49 - 8
12-133250198-G-T c.1322C>A p.P441Q Missense 13/49 - 1
12-133250199-G-A c.1321C>T p.P441S Missense 13/49 - 2
12-133250201-T-G c.1319A>C p.D440A Missense 13/49 - 1
12-133250205-G-C c.1315C>G p.L439V Missense 13/49 - 2
12-133250208-C-G c.1312G>C p.E438Q Missense 13/49 - 1
12-133250211-C-T c.1309G>A p.V437M Missense 13/49 - 3
12-133250213-G-C c.1307C>G p.P436R Missense 13/49 - 21
12-133250213-G-T c.1307C>A p.P436H Missense 13/49 - 6
12-133250213-G-A c.1307C>T p.P436L Missense 13/49 - 1
12-133250214-G-A c.1306C>T p.P436S Missense 13/49 - 9
12-133250216-T-C c.1304A>G p.D435G Missense 13/49 - 1
12-133250217-C-T c.1303G>A p.D435N Missense 13/49 - 1
12-133250217-C-A c.1303G>T p.D435Y Missense 13/49 - 1
12-133250220-A-T c.1300T>A p.Y434N Missense 13/49 - 1
12-133250222-C-T c.1298G>A p.G433D Missense 13/49 - 1
12-133250225-A-G c.1295T>C p.L432P Missense 13/49 - 1
12-133250232-C-T c.1288G>A p.A430T Missense 13/49 - 3
12-133250233-C-G c.1287G>C p.K429N Missense 13/49 - 2
12-133250233-C-A c.1287G>T p.K429N Missense 13/49 - 2
12-133250234-T-C c.1286A>G p.K429R Missense 13/49 - 1
12-133250237-G-A c.1283C>T p.A428V Missense 13/49 - 2
12-133250238-C-T c.1282G>A p.A428T Missense 13/49 - 8
12-133250238-C-A c.1282G>T p.A428S Missense 13/49 - 1
12-133250241-C-T c.1279G>A p.A427T Missense 13/49 - 1
12-133250242-C-G c.1278G>C p.A426= Synonymous 13/49 - 1
12-133250243-G-A c.1277C>T p.A426V Missense 13/49 - 8
12-133250243-G-T c.1277C>A p.A426E Missense 13/49 - 1
12-133250246-T-C c.1274A>G p.K425R Missense 13/49 - 4
12-133250246-T-A c.1274A>T p.K425M Missense 13/49 - 1
12-133250247-T-G c.1273A>C p.K425Q Missense 13/49 - 1
12-133250248-G-C c.1272C>G p.L424= Synonymous 13/49 - 1
12-133250249-A-T c.1271T>A p.L424H Missense 13/49 - 1
12-133250249-A-G c.1271T>C p.L424P Missense 13/49 - 3
12-133250250-G-A c.1270C>T p.L424F Missense 13/49 - 5
12-133250250-G-C c.1270C>G p.L424V Missense 13/49 - 76
12-133250250-G-T c.1270C>A p.L424I Missense 13/49 - 14
12-133250251-A-T c.1269T>A p.N423K Missense 13/49 - 1
12-133250256-G-A c.1264C>T p.H422Y Missense 13/49 - 1
12-133250259-T-C c.1261A>G p.S421G Missense 13/49 - 1
12-133250262-C-A c.1258G>T p.G420C Missense 13/49 - 1
12-133250267-G-A c.1253C>T p.P418L Missense 13/49 - 1
12-133250268-G-A c.1252C>T p.P418S Missense 13/49 - 2
12-133250274-A-G c.1246T>C p.Y416H Missense 13/49 - 1
12-133250280-C-T c.1240G>A p.D414N Missense 13/49 - 1
12-133250282-C-A c.1238G>T p.R413M Missense 13/49 - 1
12-133250282-C-T c.1238G>A p.R413K Missense 13/49 - 1
12-133250288-AC-CT c.1231_1232delinsAG p.V411R Missense 13/49 - 2
12-133250288-A-G c.1232T>C p.V411A Missense 13/49 - 1
12-133250289-C-G c.1231G>C p.V411L Missense 13/49 - 108
12-133250289-C-A c.1231G>T p.V411L Missense 13/49 - 107
12-133250289-C-T c.1231G>A p.V411M Missense 13/49 - 4
12-133250291-C-T c.1229G>A p.W410* Nonsense 13/49 - 1
12-133250290-C-T c.1230G>A p.W410* Nonsense 13/49 - 2
12-133250342-C-T c.1227-49G>A - IntronicSNV - 12/48 1
12-133250734-C-G c.1227-441G>C - IntronicSNV - 12/48 1
12-133250734-C-T c.1227-441G>A - IntronicSNV - 12/48 1
12-133251939-G-A c.1226+45C>T - IntronicSNV - 12/48 5
12-133251940-C-T c.1226+44G>A - IntronicSNV - 12/48 1
12-133251971-C-T c.1226+13G>A - IntronicSNV - 12/48 1
12-133251985-T-A c.1225A>T p.R409W Missense 12/49 - 1
12-133251992-G-C c.1218C>G p.D406E Missense 12/49 - 1
12-133251994-C-T c.1216G>A p.D406N Missense 12/49 - 1
12-133251995-C-T c.1215G>A p.M405I Missense 12/49 - 1
12-133252000-G-A c.1210C>T p.H404Y Missense 12/49 - 1
12-133252002-A-G c.1208T>C p.I403T Missense 12/49 - 1
12-133252006-A-G c.1204T>C p.C402R Missense 12/49 - 2
12-133252009-G-T c.1201C>A p.Q401K Missense 12/49 - 1
12-133252012-G-T c.1198C>A p.P400T Missense 12/49 - 1
12-133252014-G-A c.1196C>T p.A399V Missense 12/49 - 2
12-133252019-G-T c.1191C>A p.Y397* Nonsense 12/49 - 1
12-133252019-G-C c.1191C>G p.Y397* Nonsense 12/49 - 1
12-133252020-T-C c.1190A>G p.Y397C Missense 12/49 - 1
12-133252022-C-G c.1188G>C p.E396D Missense 12/49 - 1
12-133252022-C-A c.1188G>T p.E396D Missense 12/49 - 1
12-133252023-T-A c.1187A>T p.E396V Missense 12/49 - 1
12-133252023-T-C c.1187A>G p.E396G Missense 12/49 - 4
12-133252021-ACTCC-A c.1185_1188del p.E396Tfs*15 Frameshift 12/49 - 1
12-133252024-C-G c.1186G>C p.E396Q Missense 12/49 - 1
12-133252025-C-A c.1185G>T p.G395= Synonymous 12/49 - 1
12-133252025-C-T c.1185G>A p.G395= Synonymous 12/49 - 1
12-133252025-C-G c.1185G>C p.G395= Synonymous 12/49 - 1
12-133252026-C-T c.1184G>A p.G395E Missense 12/49 - 1
12-133252026-C-A c.1184G>T p.G395V Missense 12/49 - 1
12-133252028-CCT-C c.1181_1182del p.Q394Rfs*29 Frameshift 12/49 - 1
12-133252030-G-A c.1180C>T p.Q394* Nonsense 12/49 - 1
12-133252035-T-C c.1175A>G p.D392G Missense 12/49 - 2
12-133252038-T-G c.1172A>C p.K391T Missense 12/49 - 1
12-133252044-A-G c.1166T>C p.F389S Missense 12/49 - 1
12-133252045-A-G c.1165T>C p.F389L Missense 12/49 - 1
12-133252043-G-T c.1167C>A p.F389L Missense 12/49 - 1
12-133252043-G-C c.1167C>G p.F389L Missense 12/49 - 1
12-133252045-A-C c.1165T>G p.F389V Missense 12/49 - 1
12-133252047-C-A c.1163G>T p.G388V Missense 12/49 - 1
12-133252048-C-G c.1162G>C p.G388R Missense 12/49 - 1
12-133252048-C-T c.1162G>A p.G388S Missense 12/49 - 1
12-133252054-C-T c.1156G>A p.E386K Missense 12/49 - 1
12-133252064-G-C c.1146C>G p.S382R Missense 12/49 - 1
12-133252064-G-T c.1146C>A p.S382R Missense 12/49 - 1
12-133252066-T-G c.1144A>C p.S382R Missense 12/49 - 1
12-133252072-C-A c.1138G>T p.G380C Missense 12/49 - 3
12-133252072-C-G c.1138G>C p.G380R Missense 12/49 - 1
12-133252072-C-T c.1138G>A p.G380S Missense 12/49 - 2
12-133252086-C-T c.1124G>A p.R375Q Missense 12/49 - 2
12-133252093-C-CCAG c.1116_1117insCTG p.V372_E373insL InFrameInsertion 12/49 - 1
12-133252102-G-T c.1108C>A p.P370T Missense 12/49 - 1
12-133252321-C-T c.1106G>A p.W369* Nonsense 11/49 - 2
12-133252103-C-T c.1107G>A p.W369* Nonsense 12/49 - 1
12-133252323-GTC-TTA c.1102_1104delinsTAA p.D368* Nonsense 11/49 - 2
12-133252323-G-A c.1104C>T p.D368= Synonymous 11/49 - 1
12-133252324-T-A c.1103A>T p.D368V Missense 11/49 - 5
12-133252324-T-TA c.1102_1103insT p.D368Vfs*56 Frameshift 11/49 - 1
12-133252325-C-A c.1102G>T p.D368Y Missense 11/49 - 3
12-133252325-C-T c.1102G>A p.D368N Missense 11/49 - 1
12-133252326-A-G c.1101T>C p.F367= Synonymous 11/49 - 1
12-133252327-A-C c.1100T>G p.F367C Missense 11/49 - 4
12-133252327-A-G c.1100T>C p.F367S Missense 11/49 - 19
12-133252328-A-C c.1099T>G p.F367V Missense 11/49 - 7
12-133252328-A-G c.1099T>C p.F367L Missense 11/49 - 1
12-133252326-A-T c.1101T>A p.F367L Missense 11/49 - 2
12-133252326-A-C c.1101T>G p.F367L Missense 11/49 - 1
12-133252325-CA-C c.1101del p.F367Lfs*15 Frameshift 11/49 - 3
12-133252325-C-CA c.1101dup p.D368* Nonsense 11/49 - 1
12-133252335-C-T c.1092G>A p.G364= Synonymous 11/49 - 1
12-133252336-C-A c.1091G>T p.G364V Missense 11/49 - 1
12-133252337-C-T c.1090G>A p.G364R Missense 11/49 - 1
12-133252337-C-G c.1090G>C p.G364R Missense 11/49 - 1
12-133252337-C-A c.1090G>T p.G364W Missense 11/49 - 1
12-133252338-G-C c.1089C>G p.N363K Missense 11/49 - 9
12-133252338-G-T c.1089C>A p.N363K Missense 11/49 - 13
12-133252338-G-A c.1089C>T p.N363= Synonymous 11/49 - 2
12-133252340-T-C c.1087A>G p.N363D Missense 11/49 - 4
12-133252342-T-C c.1085A>G p.Y362C Missense 11/49 - 1
12-133252345-G-A c.1082C>T p.T361I Missense 11/49 - 1
12-133252360-G-T c.1067C>A p.P356H Missense 11/49 - 1
12-133252361-G-A c.1066C>T p.P356S Missense 11/49 - 1
12-133252363-T-C c.1064A>G p.K355R Missense 11/49 - 1
12-133252367-T-C c.1060A>G p.T354A Missense 11/49 - 1
12-133252371-C-A c.1056G>T p.Q352H Missense 11/49 - 2
12-133252371-C-G c.1056G>C p.Q352H Missense 11/49 - 1
12-133252376-C-T c.1051G>A p.V351I Missense 11/49 - 2
12-133252382-C-T c.1045G>A p.E349K Missense 11/49 - 1
12-133252384-A-G c.1043T>C p.F348S Missense 11/49 - 1
12-133252384-A-C c.1043T>G p.F348C Missense 11/49 - 1
12-133252386-C-A c.1041G>T p.W347C Missense 11/49 - 7
12-133252386-C-G c.1041G>C p.W347C Missense 11/49 - 5
12-133252394-G-A c.1033C>T p.Q345* Nonsense 11/49 - 2
12-133252400-G-A c.1027C>T p.L343= Synonymous 11/49 - 1
12-133252402-T-G c.1025A>C p.H342P Missense 11/49 - 1
12-133252402-T-C c.1025A>G p.H342R Missense 11/49 - 2
12-133252403-G-A c.1024C>T p.H342Y Missense 11/49 - 1
12-133252404-A-T c.1023T>A p.A341= Synonymous 11/49 - 1
12-133252404-A-G c.1023T>C p.A341= Synonymous 11/49 - 1
12-133252404-A-C c.1023T>G p.A341= Synonymous 11/49 - 1
12-133252406-C-T c.1021G>A p.A341T Missense 11/49 - 1
12-133252634-G-T c.1020+46C>A - IntronicSNV - 10/48 1
12-133252651-G-A c.1020+29C>T - IntronicSNV - 10/48 1
12-133252685-C-A c.1015G>T p.D339Y Missense 10/49 - 1
12-133252685-C-T c.1015G>A p.D339N Missense 10/49 - 1
12-133252688-G-A c.1012C>T p.P338S Missense 10/49 - 1
12-133252690-T-G c.1010A>C p.E337A Missense 10/49 - 1
12-133252693-T-C c.1007A>G p.N336S Missense 10/49 - 9
12-133252711-C-A c.989G>T p.G330V Missense 10/49 - 1
12-133252721-TC-T c.979del p.E327Nfs*17 Frameshift 10/49 - 1
12-133252725-CT-C c.974del p.K325Sfs*19 Frameshift 10/49 - 1
12-133252732-G-C c.968C>G p.T323S Missense 10/49 - 1
12-133252733-T-A c.967A>T p.T323S Missense 10/49 - 1
12-133252733-T-C c.967A>G p.T323A Missense 10/49 - 3
12-133252743-A-C c.957T>G p.D319E Missense 10/49 - 1
12-133252743-A-T c.957T>A p.D319E Missense 10/49 - 1
12-133252748-C-T c.952G>A p.E318K Missense 10/49 - 7
12-133252753-T-C c.947A>G p.D316G Missense 10/49 - 1
12-133252754-C-T c.946G>A p.D316N Missense 10/49 - 1
12-133252754-C-G c.946G>C p.D316H Missense 10/49 - 1
12-133252760-A-C c.940T>G p.S314A Missense 10/49 - 3
12-133252766-T-A c.934A>T p.I312F Missense 10/49 - 1
12-133252767-C-G c.933G>C p.E311D Missense 10/49 - 2
12-133252767-C-A c.933G>T p.E311D Missense 10/49 - 2
12-133252770-C-G c.930G>C p.R310S Missense 10/49 - 1
12-133252770-C-A c.930G>T p.R310S Missense 10/49 - 1
12-133252774-T-C c.926A>G p.N309S Missense 10/49 - 1
12-133252774-T-A c.926A>T p.N309I Missense 10/49 - 1
12-133252776-GG-CT c.923_924delinsAG p.T308K Missense 10/49 - 1
12-133252781-T-C c.919A>G p.I307V Missense 10/49 - 1
12-133252788-G-A c.912C>T p.G304= Synonymous 10/49 - 1
12-133252788-G-C c.912C>G p.G304= Synonymous 10/49 - 1
12-133252788-G-T c.912C>A p.G304= Synonymous 10/49 - 1
12-133252789-C-T c.911G>A p.G304D Missense 10/49 - 1
12-133252789-C-A c.911G>T p.G304V Missense 10/49 - 1
12-133252796-C-A c.910-6G>T - IntronicSNV - 9/48 2
12-133252796-C-G c.910-6G>C - IntronicSNV - 9/48 2
12-133252804-T-C c.910-14A>G - IntronicSNV - 9/48 1
12-133252947-T-C c.910-157A>G - IntronicSNV - 9/48 2
12-133253133-T-C c.908A>G p.Q303R Missense 9/49 - 1
12-133253136-C-T c.905G>A p.G302D Missense 9/49 - 1
12-133253139-T-C c.902A>G p.D301G Missense 9/49 - 3
12-133253140-C-T c.901G>A p.D301N Missense 9/49 - 4
12-133253141-G-A c.900C>T p.I300= Synonymous 9/49 - 2
12-133253141-G-T c.900C>A p.I300= Synonymous 9/49 - 1
12-133253143-T-C c.898A>G p.I300V Missense 9/49 - 1
12-133253144-C-G c.897G>C p.M299I Missense 9/49 - 1
12-133253144-C-T c.897G>A p.M299I Missense 9/49 - 1
12-133253146-T-C c.895A>G p.M299V Missense 9/49 - 1
12-133253148-GT-G c.893del p.Y298Sfs*2 Frameshift 9/49 - 1
12-133253148-T-C c.893A>G p.Y298C Missense 9/49 - 1
12-133253150-G-C c.891C>G p.S297= Synonymous 9/49 - 1
12-133253151-G-A c.890C>T p.S297F Missense 9/49 - 47
12-133253151-G-T c.890C>A p.S297Y Missense 9/49 - 6
12-133253151-G-C c.890C>G p.S297C Missense 9/49 - 1
12-133253152-A-T c.889T>A p.S297T Missense 9/49 - 1
12-133253152-A-G c.889T>C p.S297P Missense 9/49 - 1
12-133253152-A-C c.889T>G p.S297A Missense 9/49 - 1
12-133253154-A-C c.887T>G p.I296S Missense 9/49 - 1
12-133253155-T-C c.886A>G p.I296V Missense 9/49 - 1
12-133253156-C-T c.885G>A p.M295I Missense 9/49 - 1
12-133253157-A-C c.884T>G p.M295R Missense 9/49 - 7
12-133253159-C-G c.882G>C p.M294I Missense 9/49 - 1
12-133253159-C-T c.882G>A p.M294I Missense 9/49 - 1
12-133253159-C-A c.882G>T p.M294I Missense 9/49 - 1
12-133253160-A-C c.881T>G p.M294R Missense 9/49 - 1
12-133253167-G-C c.874C>G p.Q292E Missense 9/49 - 1
12-133253167-G-A c.874C>T p.Q292* Nonsense 9/49 - 2
12-133253168-G-A c.873C>T p.D291= Synonymous 9/49 - 1
12-133253172-G-T c.869C>A p.T290K Missense 9/49 - 1
12-133253172-G-A c.869C>T p.T290I Missense 9/49 - 1
12-133253176-C-T c.865G>A p.E289K Missense 9/49 - 2
12-133253177-A-G c.864T>C p.A288= Synonymous 9/49 - 1
12-133253178-G-A c.863C>T p.A288V Missense 9/49 - 1
12-133253179-C-T c.862G>A p.A288T Missense 9/49 - 1
12-133253180-A-T c.861T>A p.D287E Missense 9/49 - 9
12-133253180-A-C c.861T>G p.D287E Missense 9/49 - 1
12-133253181-T-G c.860A>C p.D287A Missense 9/49 - 2
12-133253182-C-T c.859G>A p.D287N Missense 9/49 - 2
12-133253183-A-C c.858T>G p.P286= Synonymous 9/49 - 1
12-133253183-A-T c.858T>A p.P286= Synonymous 9/49 - 1
12-133253183-A-G c.858T>C p.P286= Synonymous 9/49 - 1
12-133253184-G-C c.857C>G p.P286R Missense 9/49 - 182
12-133253184-GG-CA c.856_857delinsTG p.P286C Missense 9/49 - 4
12-133253184-G-T c.857C>A p.P286H Missense 9/49 - 17
12-133253184-G-A c.857C>T p.P286L Missense 9/49 - 5
12-133253184-GG-AC c.856_857delinsGT p.P286V Missense 9/49 - 1
12-133253185-G-A c.856C>T p.P286S Missense 9/49 - 8
12-133253185-G-T c.856C>A p.P286T Missense 9/49 - 1
12-133253187-A-G c.854T>C p.F285S Missense 9/49 - 1
12-133253188-A-G c.853T>C p.F285L Missense 9/49 - 2
12-133253186-A-T c.855T>A p.F285L Missense 9/49 - 1
12-133253186-A-C c.855T>G p.F285L Missense 9/49 - 1
12-133253188-A-C c.853T>G p.F285V Missense 9/49 - 1
12-133253194-G-A c.847C>T p.L283F Missense 9/49 - 2
12-133253196-G-A c.845C>T p.P282L Missense 9/49 - 1
12-133253197-G-A c.844C>T p.P282S Missense 9/49 - 1
12-133253205-G-T c.836C>A p.T279N Missense 9/49 - 1
12-133253205-G-A c.836C>T p.T279I Missense 9/49 - 1
12-133253206-T-C c.835A>G p.T279A Missense 9/49 - 1
12-133253207-C-T c.834G>A p.T278= Synonymous 9/49 - 1
12-133253207-C-A c.834G>T p.T278= Synonymous 9/49 - 1
12-133253207-C-G c.834G>C p.T278= Synonymous 9/49 - 1
12-133253208-G-A c.833C>T p.T278M Missense 9/49 - 6
12-133253208-G-T c.833C>A p.T278K Missense 9/49 - 3
12-133253208-GT-AG c.832_833delinsCT p.T278L Missense 9/49 - 1
12-133253209-T-A c.832A>T p.T278S Missense 9/49 - 1
12-133253209-T-G c.832A>C p.T278P Missense 9/49 - 1
12-133253211-T-C c.830A>G p.E277G Missense 9/49 - 1
12-133253211-T-A c.830A>T p.E277V Missense 9/49 - 1
12-133253211-T-G c.830A>C p.E277A Missense 9/49 - 1
12-133253212-C-G c.829G>C p.E277Q Missense 9/49 - 1
12-133253212-C-T c.829G>A p.E277K Missense 9/49 - 1
12-133253217-T-C c.824A>G p.D275G Missense 9/49 - 6
12-133253217-T-G c.824A>C p.D275A Missense 9/49 - 8
12-133253217-T-A c.824A>T p.D275V Missense 9/49 - 8
12-133253218-C-T c.823G>A p.D275N Missense 9/49 - 1
12-133253218-C-G c.823G>C p.D275H Missense 9/49 - 1
12-133253233-C-T c.808G>A p.V270M Missense 9/49 - 3
12-133253235-G-A c.806C>T p.P269L Missense 9/49 - 1
12-133253235-G-C c.806C>G p.P269R Missense 9/49 - 1
12-133253236-G-A c.805C>T p.P269S Missense 9/49 - 1
12-133253234-AG-A c.806del p.P269Lfs*26 Frameshift 9/49 - 1
12-133253310-A-C c.802-71T>G - IntronicSNV - 8/48 1
12-133253310-A-G c.802-71T>C - IntronicSNV - 8/48 1
12-133253947-A-G c.801+2T>C - IntronicSNV - 8/48 1
12-133253950-G-C c.800C>G p.P267R Missense 8/49 - 1
12-133253953-C-T c.797G>A p.R266Q Missense 8/49 - 1
12-133253954-G-A c.796C>T p.R266* Nonsense 8/49 - 2
12-133253957-C-A c.793G>T p.E265* Nonsense 8/49 - 2
12-133253963-G-A c.787C>T p.L263F Missense 8/49 - 1
12-133253966-C-A c.784G>T p.D262Y Missense 8/49 - 1
12-133253973-G-T c.777C>A p.R259= Synonymous 8/49 - 1
12-133253973-G-C c.777C>G p.R259= Synonymous 8/49 - 1
12-133253973-G-A c.777C>T p.R259= Synonymous 8/49 - 1
12-133253974-C-T c.776G>A p.R259H Missense 8/49 - 4
12-133253975-G-A c.775C>T p.R259C Missense 8/49 - 1
12-133253978-T-G c.772A>C p.T258P Missense 8/49 - 1
12-133253979-G-C c.771C>G p.I257M Missense 8/49 - 1
12-133253989-G-A c.761C>T p.P254L Missense 8/49 - 1
12-133253990-G-A c.760C>T p.P254S Missense 8/49 - 1
12-133253994-A-C c.756T>G p.A252= Synonymous 8/49 - 1
12-133253994-A-T c.756T>A p.A252= Synonymous 8/49 - 1
12-133253994-A-G c.756T>C p.A252= Synonymous 8/49 - 1
12-133253995-G-A c.755C>T p.A252V Missense 8/49 - 13
12-133254001-C-G c.749G>C p.G250A Missense 8/49 - 2
12-133254002-C-T c.748G>A p.G250R Missense 8/49 - 1
12-133254002-C-G c.748G>C p.G250R Missense 8/49 - 1
12-133254003-TCG-GCT c.745_747delinsAGC p.R249S Missense 8/49 - 1
12-133254004-C-T c.746G>A p.R249Q Missense 8/49 - 1
12-133254004-C-A c.746G>T p.R249L Missense 8/49 - 1
12-133254006-G-T c.744C>A p.Y248* Nonsense 8/49 - 1
12-133254006-G-C c.744C>G p.Y248* Nonsense 8/49 - 1
12-133254022-C-CA c.727dup p.W243Lfs*20 Frameshift 8/49 - 1
12-133254026-G-A c.724C>T p.H242Y Missense 8/49 - 2
12-133254026-G-C c.724C>G p.H242D Missense 8/49 - 1
12-133254027-A-T c.723T>A p.A241= Synonymous 8/49 - 1
12-133254083-T-C c.721-54A>G - IntronicSNV - 7/48 1
12-133254166-C-G c.718G>C p.V240L Missense 7/49 - 1
12-133254166-C-A c.718G>T p.V240L Missense 7/49 - 1
12-133254166-C-T c.718G>A p.V240M Missense 7/49 - 1
12-133254169-G-A c.715C>T p.H239Y Missense 7/49 - 1
12-133254172-T-A c.712A>T p.I238F Missense 7/49 - 2
12-133254178-G-A c.706C>T p.L236= Synonymous 7/49 - 1
12-133254184-T-C c.700A>G p.I234V Missense 7/49 - 1
12-133254192-C-T c.692G>A p.R231H Missense 7/49 - 4
12-133254193-G-A c.691C>T p.R231C Missense 7/49 - 4
12-133254194-G-C c.690C>G p.I230M Missense 7/49 - 1
12-133254199-G-T c.685C>A p.H229N Missense 7/49 - 1
12-133254205-G-A c.679C>T p.P227S Missense 7/49 - 1
12-133254211-C-T c.673G>A p.D225N Missense 7/49 - 1
12-133254213-T-C c.671A>G p.Y224C Missense 7/49 - 1
12-133254217-C-T c.667G>A p.E223K Missense 7/49 - 1
12-133254218-G-A c.666C>T p.R222= Synonymous 7/49 - 1
12-133254219-C-T c.665G>A p.R222H Missense 7/49 - 2
12-133254219-C-A c.665G>T p.R222L Missense 7/49 - 1
12-133254243-T-C c.641A>G p.Q214R Missense 7/49 - 1
12-133254244-G-T c.640C>A p.Q214K Missense 7/49 - 1
12-133254246-T-G c.638A>C p.D213A Missense 7/49 - 2
12-133254247-C-T c.637G>A p.D213N Missense 7/49 - 1
12-133254254-C-G c.630G>C p.K210N Missense 7/49 - 1
12-133254255-T-C c.629A>G p.K210R Missense 7/49 - 2
12-133254265-T-C c.619A>G p.T207A Missense 7/49 - 1
12-133254270-T-C c.614A>G p.E205G Missense 7/49 - 1
12-133254277-C-T c.607G>A p.D203N Missense 7/49 - 1
12-133254278-A-T c.606T>A p.T202= Synonymous 7/49 - 1
12-133254278-A-C c.606T>G p.T202= Synonymous 7/49 - 1
12-133254278-A-G c.606T>C p.T202= Synonymous 7/49 - 1
12-133254291-C-T c.593G>A p.G198D Missense 7/49 - 1
12-133254294-C-A c.590G>T p.R197M Missense 7/49 - 1
12-133254297-T-G c.587A>C p.Q196P Missense 7/49 - 1
12-133254297-CT-C c.587del p.Q196Rfs*16 Frameshift 7/49 - 1
12-133254298-G-A c.586C>T p.Q196* Nonsense 7/49 - 2
12-133256089-A-T c.572T>A p.L191H Missense 6/49 - 1
12-133256096-C-T c.565G>A p.A189T Missense 6/49 - 2
12-133256100-G-A c.561C>T p.Y187= Synonymous 6/49 - 1
12-133256104-G-A c.557C>T p.A186V Missense 6/49 - 2
12-133256105-C-T c.556G>A p.A186T Missense 6/49 - 3
12-133256108-C-G c.553G>C p.D185H Missense 6/49 - 1
12-133256114-C-T c.547G>A p.A183T Missense 6/49 - 1
12-133256117-G-A c.544C>T p.H182Y Missense 6/49 - 2
12-133256125-T-C c.536A>G p.E179G Missense 6/49 - 1
12-133256127-CCT-ATG c.532_534delinsCAT p.R178H Missense 6/49 - 1
12-133256133-C-G c.528G>C p.K176N Missense 6/49 - 1
12-133256133-C-A c.528G>T p.K176N Missense 6/49 - 1
12-133256141-C-T c.520G>A p.V174M Missense 6/49 - 1
12-133256146-G-A c.515C>T p.P172L Missense 6/49 - 2
12-133256152-AT-CC c.508_509delinsGG p.I170G Missense 6/49 - 1
12-133256154-C-G c.507G>C p.E169D Missense 6/49 - 1
12-133256154-C-A c.507G>T p.E169D Missense 6/49 - 1
12-133256156-C-T c.505G>A p.E169K Missense 6/49 - 1
12-133256161-C-T c.500G>A p.R167K Missense 6/49 - 1
12-133256166-T-G c.495A>C p.K165N Missense 6/49 - 1
12-133256167-T-C c.494A>G p.K165R Missense 6/49 - 1
12-133256180-C-T c.481G>A p.E161K Missense 6/49 - 1
12-133256186-T-C c.475A>G p.T159A Missense 6/49 - 2
12-133256188-T-A c.473A>T p.H158L Missense 6/49 - 1
12-133256189-G-A c.472C>T p.H158Y Missense 6/49 - 1
12-133256193-GG-TT c.467_468delinsAA p.S156* Nonsense 6/49 - 1
12-133256195-A-C c.466T>G p.S156A Missense 6/49 - 2
12-133256200-C-T c.461G>A p.R154K Missense 6/49 - 1
12-133256208-A-C c.453T>G p.N151K Missense 6/49 - 1
12-133256212-C-T c.449G>A p.R150Q Missense 6/49 - 1
12-133256213-G-A c.448C>T p.R150* Nonsense 6/49 - 2
12-133256217-C-A c.444G>T p.L148F Missense 6/49 - 1
12-133256217-C-G c.444G>C p.L148F Missense 6/49 - 1
12-133256222-C-A c.439G>T p.G147C Missense 6/49 - 1
12-133256225-C-A c.436G>T p.V146L Missense 6/49 - 1
12-133256226-C-A c.435G>T p.L145F Missense 6/49 - 1
12-133256226-C-G c.435G>C p.L145F Missense 6/49 - 1
12-133256229-G-T c.432C>A p.H144Q Missense 6/49 - 1
12-133256229-G-C c.432C>G p.H144Q Missense 6/49 - 1
12-133256230-T-C c.431A>G p.H144R Missense 6/49 - 2
12-133256231-G-T c.430C>A p.H144N Missense 6/49 - 1
12-133256232-A-C c.429T>G p.N143K Missense 6/49 - 1
12-133256232-A-T c.429T>A p.N143K Missense 6/49 - 1
12-133256234-T-C c.427A>G p.N143D Missense 6/49 - 1
12-133256235-T-A c.426A>T p.P142= Synonymous 6/49 - 1
12-133256235-T-C c.426A>G p.P142= Synonymous 6/49 - 1
12-133256235-T-G c.426A>C p.P142= Synonymous 6/49 - 1
12-133256544-T-G c.419A>C p.D140A Missense 5/49 - 1
12-133256546-CAG-AAA c.415_417delinsTTT p.L139F Missense 5/49 - 1
12-133256551-C-A c.412G>T p.D138Y Missense 5/49 - 2
12-133256560-G-C c.403C>G p.P135A Missense 5/49 - 2
12-133256560-G-A c.403C>T p.P135S Missense 5/49 - 4
12-133256567-C-G c.396G>C p.E132D Missense 5/49 - 1
12-133256567-C-A c.396G>T p.E132D Missense 5/49 - 1
12-133256569-C-T c.394G>A p.E132K Missense 5/49 - 1
12-133256576-T-A c.387A>T p.A129= Synonymous 5/49 - 1
12-133256588-C-A c.375G>T p.Q125H Missense 5/49 - 2
12-133256588-C-G c.375G>C p.Q125H Missense 5/49 - 2
12-133256597-C-G c.366G>C p.K122N Missense 5/49 - 1
12-133256597-C-A c.366G>T p.K122N Missense 5/49 - 1
12-133256605-G-T c.358C>A p.L120I Missense 5/49 - 1
12-133256605-GAAA-G c.355_357del p.F119del InFrameDeletion 5/49 - 1
12-133256610-G-T c.353C>A p.S118Y Missense 5/49 - 1
12-133256611-GAT-G c.351_352del p.S118Ffs*85 Frameshift 5/49 - 1
12-133256623-G-A c.340C>T p.R114* Nonsense 5/49 - 6
12-133256628-C-A c.335G>T p.C112F Missense 5/49 - 1
12-133256759-CTCACCTTTCTGGTCGCAATGTAGAAATACGGTTTATAGGGCAAAGCCACCTGTTAAGAG-C c.286-10_330+4del - SpliceDonorDeletion 4/49 3/48 1
12-133256768-C-T c.326G>A p.R109K Missense 4/49 - 1
12-133256774-G-A c.320C>T p.A107V Missense 4/49 - 2
12-133256780-T-C c.314A>G p.Y105C Missense 4/49 - 1
12-133256780-T-A c.314A>T p.Y105F Missense 4/49 - 1
12-133256784-A-G c.310T>C p.F104L Missense 4/49 - 2
12-133256782-G-T c.312C>A p.F104L Missense 4/49 - 2
12-133256782-G-C c.312C>G p.F104L Missense 4/49 - 2
12-133256789-G-A c.305C>T p.P102L Missense 4/49 - 1
12-133256790-G-A c.304C>T p.P102S Missense 4/49 - 2
12-133256793-T-C c.301A>G p.K101E Missense 4/49 - 1
12-133256798-G-C c.296C>G p.P99R Missense 4/49 - 1
12-133256802-A-C c.292T>G p.L98V Missense 4/49 - 1
12-133256804-GC-AT c.289_290delinsAT p.A97I Missense 4/49 - 1
12-133256804-GC-TG c.289_290delinsCA p.A97H Missense 4/49 - 1
12-133256805-C-A c.289G>T p.A97S Missense 4/49 - 1
12-133256805-C-T c.289G>A p.A97T Missense 4/49 - 1
12-133256808-C-G c.286G>C p.V96L Missense 4/49 - 1
12-133256808-C-A c.286G>T p.V96L Missense 4/49 - 1
12-133256904-C-T c.286-96G>A - IntronicSNV - 3/48 1
12-133257197-A-C c.281T>G p.F94C Missense 3/49 - 1
12-133257197-AA-TC c.280_281delinsGA p.F94D Missense 3/49 - 1
12-133257200-C-T c.278G>A p.R93K Missense 3/49 - 1
12-133257212-T-G c.266A>C p.D89A Missense 3/49 - 2
12-133257224-T-C c.254A>G p.Y85C Missense 3/49 - 1
12-133257231-C-G c.247G>C p.D83H Missense 3/49 - 1
12-133257235-TGC-CCA c.241_243delinsTGG p.A81W Missense 3/49 - 1
12-133257235-TGC-GTT c.241_243delinsAAC p.A81N Missense 3/49 - 1
12-133257235-TG-GT c.242_243delinsAC p.A81D Missense 3/49 - 1
12-133257235-T-G c.243A>C p.A81= Synonymous 3/49 - 1
12-133257235-T-C c.243A>G p.A81= Synonymous 3/49 - 1
12-133257235-T-A c.243A>T p.A81= Synonymous 3/49 - 1
12-133257235-TGC-AAA c.241_243delinsTTT p.A81F Missense 3/49 - 1
12-133257235-TGC-ATG c.241_243delinsCAT p.A81H Missense 3/49 - 1
12-133257235-TGC-CAT c.241_243delinsATG p.A81M Missense 3/49 - 1
12-133257236-G-A c.242C>T p.A81V Missense 3/49 - 1
12-133257236-G-T c.242C>A p.A81E Missense 3/49 - 1
12-133257236-G-C c.242C>G p.A81G Missense 3/49 - 1
12-133257236-GC-AT c.241_242delinsAT p.A81I Missense 3/49 - 1
12-133257236-GC-TG c.241_242delinsCA p.A81Q Missense 3/49 - 1
12-133257236-GC-CT c.241_242delinsAG p.A81R Missense 3/49 - 1
12-133257236-GC-TT c.241_242delinsAA p.A81K Missense 3/49 - 1
12-133257237-C-A c.241G>T p.A81S Missense 3/49 - 1
12-133257237-C-T c.241G>A p.A81T Missense 3/49 - 1
12-133257237-C-G c.241G>C p.A81P Missense 3/49 - 1
12-133257249-G-A c.229C>T p.R77C Missense 3/49 - 2
12-133257255-C-T c.223G>A p.D75N Missense 3/49 - 1
12-133257256-T-G c.222A>C p.E74D Missense 3/49 - 1
12-133257256-T-A c.222A>T p.E74D Missense 3/49 - 1
12-133257258-C-G c.220G>C p.E74Q Missense 3/49 - 1
12-133257260-T-C c.218A>G p.D73G Missense 3/49 - 1
12-133257261-C-T c.217G>A p.D73N Missense 3/49 - 1
12-133257270-C-T c.208G>A p.E70K Missense 3/49 - 1
12-133257271-G-T c.207C>A p.T69= Synonymous 3/49 - 1
12-133257271-G-C c.207C>G p.T69= Synonymous 3/49 - 1
12-133257271-G-A c.207C>T p.T69= Synonymous 3/49 - 1
12-133257725-G-A c.203C>T p.P68L Missense 2/49 - 1
12-133257725-G-T c.203C>A p.P68H Missense 2/49 - 2
12-133257726-G-A c.202C>T p.P68S Missense 2/49 - 1
12-133257730-C-T c.198G>A p.M66I Missense 2/49 - 1
12-133257746-C-T c.182G>A p.G61D Missense 2/49 - 1
12-133257749-G-A c.179C>T p.T60I Missense 2/49 - 1
12-133257758-C-A c.170G>T p.G57V Missense 2/49 - 1
12-133257759-C-G c.169G>C p.G57R Missense 2/49 - 1
12-133257773-C-T c.155G>A p.R52Q Missense 2/49 - 1
12-133257774-G-A c.154C>T p.R52W Missense 2/49 - 2
12-133257776-T-G c.152A>C p.E51A Missense 2/49 - 1
12-133257787-CC-AT c.140_141delinsAT p.R47H Missense 2/49 - 1
12-133257786-AC-A c.141del p.F48Lfs*6 Frameshift 2/49 - 3
12-133257788-C-T c.140G>A p.R47Q Missense 2/49 - 1
12-133257789-G-A c.139C>T p.R47W Missense 2/49 - 5
12-133257801-T-C c.127A>G p.K43E Missense 2/49 - 2
12-133257804-C-T c.124G>A p.D42N Missense 2/49 - 3
12-133257805-C-T c.123G>A p.T41= Synonymous 2/49 - 1
12-133257805-C-G c.123G>C p.T41= Synonymous 2/49 - 1
12-133257806-G-A c.122C>T p.T41M Missense 2/49 - 2
12-133257807-T-C c.121A>G p.T41A Missense 2/49 - 1
12-133257813-G-C c.115C>G p.Q39E Missense 2/49 - 1
12-133257815-C-T c.113G>A p.S38N Missense 2/49 - 1
12-133257816-T-A c.112A>T p.S38C Missense 2/49 - 1
12-133257818-C-A c.110G>T p.R37L Missense 2/49 - 1
12-133257819-G-A c.109C>T p.R37W Missense 2/49 - 2
12-133257819-G-T c.109C>A p.R37= Synonymous 2/49 - 1
12-133257817-C-T c.111G>A p.R37= Synonymous 2/49 - 1
12-133257817-C-G c.111G>C p.R37= Synonymous 2/49 - 1
12-133257817-C-A c.111G>T p.R37= Synonymous 2/49 - 1
12-133257821-T-TTGAACTCCATCTCGGCG c.106_107insCGCCGAGATGGAGTTCA p.E36Afs*24 Frameshift 2/49 - 1
12-133257822-C-A c.106G>T p.E36* Nonsense 2/49 - 1
12-133257823-C-G c.105G>C p.L35= Synonymous 2/49 - 1
12-133257825-G-T c.103C>A p.L35M Missense 2/49 - 1
12-133257827-C-T c.101G>A p.R34H Missense 2/49 - 1
12-133257827-C-A c.101G>T p.R34L Missense 2/49 - 2
12-133257828-G-A c.100C>T p.R34C Missense 2/49 - 5
12-133257833-A-G c.95T>C p.L32P Missense 2/49 - 1
12-133257833-A-C c.95T>G p.L32R Missense 2/49 - 2
12-133257835-T-G c.93A>C p.A31= Synonymous 2/49 - 1
12-133257836-GC-AT c.91_92delinsAT p.A31I Missense 2/49 - 1
12-133257837-C-A c.91G>T p.A31S Missense 2/49 - 5
12-133257839-G-A c.89C>T p.S30L Missense 2/49 - 3
12-133257843-C-A c.85G>T p.V29F Missense 2/49 - 2
12-133257853-GGC-CCA c.73_75delinsTGG p.A25W Missense 2/49 - 1
12-133257853-GGC-CTT c.73_75delinsAAG p.A25K Missense 2/49 - 1
12-133257853-GG-CT c.74_75delinsAG p.A25E Missense 2/49 - 1
12-133257853-G-T c.75C>A p.A25= Synonymous 2/49 - 1
12-133257853-G-C c.75C>G p.A25= Synonymous 2/49 - 1
12-133257853-G-A c.75C>T p.A25= Synonymous 2/49 - 1
12-133257854-GC-TA c.73_74delinsTA p.A25Y Missense 2/49 - 1
12-133257854-G-C c.74C>G p.A25G Missense 2/49 - 1
12-133257854-GC-AT c.73_74delinsAT p.A25I Missense 2/49 - 1
12-133257854-G-A c.74C>T p.A25V Missense 2/49 - 1
12-133257854-GC-CG c.73_74delinsCG p.A25R Missense 2/49 - 1
12-133257854-GC-AA c.73_74delinsTT p.A25F Missense 2/49 - 1
12-133257854-G-T c.74C>A p.A25D Missense 2/49 - 1
12-133257854-GC-CA c.73_74delinsTG p.A25C Missense 2/49 - 1
12-133257855-C-T c.73G>A p.A25T Missense 2/49 - 3
12-133257855-C-A c.73G>T p.A25S Missense 2/49 - 2
12-133257856-G-A c.72C>T p.G24= Synonymous 2/49 - 1
12-133257858-C-T c.70G>A p.G24S Missense 2/49 - 2
12-133257858-C-G c.70G>C p.G24R Missense 2/49 - 2
12-133257856-GC-G c.71del p.G24Afs*30 Frameshift 2/49 - 1
12-133257859-A-C c.69T>G p.D23E Missense 2/49 - 1
12-133257859-A-T c.69T>A p.D23E Missense 2/49 - 1
12-133257861-C-G c.67G>C p.D23H Missense 2/49 - 2
12-133257863-T-C c.65A>G p.D22G Missense 2/49 - 1
12-133257865-C-G c.63G>C p.R21S Missense 2/49 - 1
12-133257865-C-A c.63G>T p.R21S Missense 2/49 - 1
12-133262001-C-A c.62+1839G>T - IntronicSNV - 1/48 2
12-133262001-C-T c.62+1839G>A - IntronicSNV - 1/48 2
12-133263839-C-T c.62+1G>A - IntronicSNV - 1/48 2
12-133263843-CT-GC c.58_59delinsGC p.S20A Missense 1/49 - 1
12-133263844-T-A c.58A>T p.S20C Missense 1/49 - 1
12-133263844-T-G c.58A>C p.S20R Missense 1/49 - 1
12-133263845-G-T c.57C>A p.A19= Synonymous 1/49 - 1
12-133263845-G-C c.57C>G p.A19= Synonymous 1/49 - 1
12-133263845-G-A c.57C>T p.A19= Synonymous 1/49 - 1
12-133263845-GGC-TTG c.55_57delinsCAA p.A19Q Missense 1/49 - 1
12-133263845-GGC-CTT c.55_57delinsAAG p.A19K Missense 1/49 - 1
12-133263845-GG-CT c.56_57delinsAG p.A19E Missense 1/49 - 1
12-133263845-GGC-CCA c.55_57delinsTGG p.A19W Missense 1/49 - 1
12-133263845-GGC-CAT c.55_57delinsATG p.A19M Missense 1/49 - 1
12-133263846-GC-CA c.55_56delinsTG p.A19C Missense 1/49 - 2
12-133263846-GC-AA c.55_56delinsTT p.A19F Missense 1/49 - 2
12-133263846-GC-TG c.55_56delinsCA p.A19H Missense 1/49 - 2
12-133263846-G-T c.56C>A p.A19D Missense 1/49 - 2
12-133263846-GC-AG c.55_56delinsCT p.A19L Missense 1/49 - 1
12-133263846-GC-TT c.55_56delinsAA p.A19N Missense 1/49 - 1
12-133263846-G-C c.56C>G p.A19G Missense 1/49 - 1
12-133263847-C-G c.55G>C p.A19P Missense 1/49 - 1
12-133263847-C-A c.55G>T p.A19S Missense 1/49 - 1
12-133263847-C-T c.55G>A p.A19T Missense 1/49 - 1
12-133263850-C-T c.52G>A p.E18K Missense 1/49 - 7
12-133263850-C-G c.52G>C p.E18Q Missense 1/49 - 1
12-133263850-C-A c.52G>T p.E18* Nonsense 1/49 - 1
12-133263855-T-A c.47A>T p.D16V Missense 1/49 - 1
12-133263856-C-A c.46G>T p.D16Y Missense 1/49 - 1
12-133263857-CGC-GAT c.43_45delinsATC p.A15I Missense 1/49 - 1
12-133263857-CGC-ATG c.43_45delinsCAT p.A15H Missense 1/49 - 1
12-133263857-CGC-AAA c.43_45delinsTTT p.A15F Missense 1/49 - 1
12-133263857-CG-GT c.44_45delinsAC p.A15D Missense 1/49 - 1
12-133263857-CGC-ACA c.43_45delinsTGT p.A15C Missense 1/49 - 1
12-133263857-C-T c.45G>A p.A15= Synonymous 1/49 - 1
12-133263857-C-G c.45G>C p.A15= Synonymous 1/49 - 1
12-133263857-C-A c.45G>T p.A15= Synonymous 1/49 - 1
12-133263858-GC-CT c.43_44delinsAG p.A15R Missense 1/49 - 1
12-133263858-GC-AT c.43_44delinsAT p.A15M Missense 1/49 - 1
12-133263858-GC-AG c.43_44delinsCT p.A15L Missense 1/49 - 1
12-133263858-GC-TT c.43_44delinsAA p.A15K Missense 1/49 - 1
12-133263858-G-C c.44C>G p.A15G Missense 1/49 - 1
12-133263858-G-T c.44C>A p.A15E Missense 1/49 - 1
12-133263858-G-A c.44C>T p.A15V Missense 1/49 - 1
12-133263858-GC-TA c.43_44delinsTA p.A15* Nonsense 1/49 - 1
12-133263858-GC-CA c.43_44delinsTG p.A15W Missense 1/49 - 1
12-133263859-C-A c.43G>T p.A15S Missense 1/49 - 1
12-133263859-C-T c.43G>A p.A15T Missense 1/49 - 1
12-133263859-C-G c.43G>C p.A15P Missense 1/49 - 1
12-133263864-GG-TT c.37_38delinsAA p.P13K Missense 1/49 - 3
12-133263865-G-A c.37C>T p.P13S Missense 1/49 - 2
12-133263869-CGC-GTT c.31_33delinsAAC p.A11N Missense 1/49 - 4
12-133263869-CGC-ATG c.31_33delinsCAT p.A11H Missense 1/49 - 3
12-133263869-CGC-ATA c.31_33delinsTAT p.A11Y Missense 1/49 - 3
12-133263869-CGC-GAT c.31_33delinsATC p.A11I Missense 1/49 - 1
12-133263869-C-T c.33G>A p.A11= Synonymous 1/49 - 1
12-133263869-C-G c.33G>C p.A11= Synonymous 1/49 - 1
12-133263869-C-A c.33G>T p.A11= Synonymous 1/49 - 1
12-133263869-CGC-ACA c.31_33delinsTGT p.A11C Missense 1/49 - 1
12-133263869-CG-GT c.32_33delinsAC p.A11D Missense 1/49 - 1
12-133263869-CGC-AAA c.31_33delinsTTT p.A11F Missense 1/49 - 1
12-133263870-G-T c.32C>A p.A11E Missense 1/49 - 4
12-133263870-GC-TA c.31_32delinsTA p.A11* Nonsense 1/49 - 2
12-133263870-G-C c.32C>G p.A11G Missense 1/49 - 2
12-133263870-GC-AT c.31_32delinsAT p.A11M Missense 1/49 - 1
12-133263870-G-A c.32C>T p.A11V Missense 1/49 - 1
12-133263870-GC-CT c.31_32delinsAG p.A11R Missense 1/49 - 1
12-133263870-GC-TG c.31_32delinsCA p.A11Q Missense 1/49 - 1
12-133263870-GC-CA c.31_32delinsTG p.A11W Missense 1/49 - 1
12-133263871-C-A c.31G>T p.A11S Missense 1/49 - 1
12-133263877-G-A c.25C>T p.R9W Missense 1/49 - 1
12-133263880-G-A c.22C>T p.R8W Missense 1/49 - 1
12-133263882-C-A c.20G>T p.G7V Missense 1/49 - 1
12-133263886-C-G c.16G>C p.G6R Missense 1/49 - 2
12-133263891-C-T c.11G>A p.R4K Missense 1/49 - 1
12-133263896-A-C c.6T>G p.S2= Synonymous 1/49 - 1
12-133263896-A-G c.6T>C p.S2= Synonymous 1/49 - 1
12-133263896-A-T c.6T>A p.S2= Synonymous 1/49 - 1
12-133263901-T-A c.1A>T p.M1? Missense 1/49 - 1