CUL3

CUL3 cullin 3

Annotation transcript: NM_003590.5

1379 unique variant annotations were identified in 600 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
2-225334971-T-C c.*3991A>G - 3-UTRSNV 16/16 - 5
2-225335173-G-A c.*3789C>T - 3-UTRSNV 16/16 - 5
2-225335290-A-G c.*3672T>C - 3-UTRSNV 16/16 - 2
2-225335595-A-G c.*3367T>C - 3-UTRSNV 16/16 - 4
2-225335814-T-C c.*3148A>G - 3-UTRSNV 16/16 - 6
2-225336309-C-T c.*2653G>A - 3-UTRSNV 16/16 - 2
2-225336531-C-A c.*2431G>T - 3-UTRSNV 16/16 - 2
2-225336769-C-T c.*2193G>A - 3-UTRSNV 16/16 - 3
2-225336770-A-G c.*2192T>C - 3-UTRSNV 16/16 - 2
2-225336889-T-C c.*2073A>G - 3-UTRSNV 16/16 - 2
2-225337188-C-A c.*1774G>T - 3-UTRSNV 16/16 - 2
2-225338022-G-A c.*940C>T - 3-UTRSNV 16/16 - 3
2-225338022-G-C c.*940C>G - 3-UTRSNV 16/16 - 3
2-225338022-G-T c.*940C>A - 3-UTRSNV 16/16 - 3
2-225338963-T-C c.2306A>G p.*769= Synonymous 16/16 - 1
2-225338964-A-G c.2305T>C p.*769Qext*22 Missense 16/16 - 3
2-225338967-C-A c.2302G>T p.A768S Missense 16/16 - 2
2-225338972-T-C c.2297A>G p.Y766C Missense 16/16 - 4
2-225338974-T-C c.2295A>G p.T765= Synonymous 16/16 - 1
2-225338975-G-A c.2294C>T p.T765I Missense 16/16 - 5
2-225338985-T-C c.2284A>G p.K762E Missense 16/16 - 1
2-225338985-T-G c.2284A>C p.K762Q Missense 16/16 - 1
2-225338986-GCG-TCA c.2281_2283delinsTGA p.R761* Nonsense 16/16 - 1
2-225338987-C-T c.2282G>A p.R761H Missense 16/16 - 7
2-225338988-G-A c.2281C>T p.R761C Missense 16/16 - 2
2-225338991-C-T c.2278G>A p.D760N Missense 16/16 - 3
2-225338992-C-A c.2277G>T p.E759D Missense 16/16 - 1
2-225338992-C-G c.2277G>C p.E759D Missense 16/16 - 1
2-225338993-T-C c.2276A>G p.E759G Missense 16/16 - 1
2-225338994-C-T c.2275G>A p.E759K Missense 16/16 - 3
2-225338997-G-A c.2272C>T p.P758S Missense 16/16 - 1
2-225338999-G-C c.2270C>G p.T757R Missense 16/16 - 1
2-225339002-C-A c.2267G>T p.R756L Missense 16/16 - 4
2-225339002-C-G c.2267G>C p.R756P Missense 16/16 - 1
2-225339002-C-T c.2267G>A p.R756Q Missense 16/16 - 2
2-225339003-G-A c.2266C>T p.R756* Nonsense 16/16 - 5
2-225339006-C-T c.2263G>A p.A755T Missense 16/16 - 2
2-225339007-C-A c.2262G>T p.L754F Missense 16/16 - 2
2-225339007-C-G c.2262G>C p.L754F Missense 16/16 - 1
2-225339007-C-CA c.2261dup p.L754Ffs*6 Frameshift 16/16 - 1
2-225339011-T-A c.2258A>T p.Y753F Missense 16/16 - 1
2-225339011-T-C c.2258A>G p.Y753C Missense 16/16 - 2
2-225339012-A-G c.2257T>C p.Y753H Missense 16/16 - 2
2-225339013-T-C c.2256A>G p.E752= Synonymous 16/16 - 3
2-225339013-T-G c.2256A>C p.E752D Missense 16/16 - 2
2-225339015-C-G c.2254G>C p.E752Q Missense 16/16 - 4
2-225339017-C-G c.2252G>C p.R751T Missense 16/16 - 4
2-225339018-T-A c.2251A>T p.R751* Nonsense 16/16 - 1
2-225339019-C-G c.2250G>C p.E750D Missense 16/16 - 2
2-225339021-C-A c.2248G>T p.E750* Nonsense 16/16 - 1
2-225339021-C-T c.2248G>A p.E750K Missense 16/16 - 5
2-225339023-A-G c.2246T>C p.I749T Missense 16/16 - 2
2-225339024-T-A c.2245A>T p.I749F Missense 16/16 - 1
2-225339027-G-A c.2242C>T p.L748F Missense 16/16 - 2
2-225339038-C-T c.2231G>A p.R744H Missense 16/16 - 3
2-225339039-G-A c.2230C>T p.R744C Missense 16/16 - 3
2-225339039-G-C c.2230C>G p.R744G Missense 16/16 - 1
2-225339039-G-T c.2230C>A p.R744S Missense 16/16 - 3
2-225339043-C-A c.2226G>T p.K742N Missense 16/16 - 1
2-225339043-C-G c.2226G>C p.K742N Missense 16/16 - 2
2-225339044-TTAATAACAAC-T c.2215_2224del p.V739Rfs*26 Frameshift 16/16 - 1
2-225339044-TTAA-T c.2222_2224del p.I741del InFrameDeletion 16/16 - 1
2-225339048-TA-T c.2220del p.I741Lfs*27 Frameshift 16/16 - 4
2-225339050-A-C c.2219T>G p.V740G Missense 16/16 - 1
2-225339054-C-A c.2215G>T p.V739F Missense 16/16 - 1
2-225339054-C-T c.2215G>A p.V739I Missense 16/16 - 1
2-225339057-G-A c.2212C>T p.P738S Missense 16/16 - 5
2-225339057-G-C c.2212C>G p.P738A Missense 16/16 - 1
2-225339058-GA-G c.2211del p.P738Qfs*30 Frameshift 16/16 - 1
2-225339061-T-A c.2208A>T p.P736= Synonymous 16/16 - 1
2-225339062-G-C c.2207C>G p.P736R Missense 16/16 - 3
2-225339063-G-T c.2206C>A p.P736T Missense 16/16 - 2
2-225339066-A-C c.2203T>G p.L735V Missense 16/16 - 1
2-225339066-A-G c.2203T>C p.L735= Synonymous 16/16 - 1
2-225339071-C-A c.2198G>T p.R733L Missense 16/16 - 2
2-225339071-C-T c.2198G>A p.R733Q Missense 16/16 - 2
2-225339072-G-A c.2197C>T p.R733* Nonsense 16/16 - 3
2-225339077-T-A c.2192A>T p.K731M Missense 16/16 - 4
2-225339079-C-A c.2190G>T p.L730F Missense 16/16 - 2
2-225339084-G-A c.2185C>T p.Q729* Nonsense 16/16 - 1
2-225339086-T-C c.2183A>G p.Q728R Missense 16/16 - 1
2-225339087-G-C c.2182C>G p.Q728E Missense 16/16 - 1
2-225339088-GA-G c.2181del p.Q728Sfs*3 Frameshift 16/16 - 1
2-225339092-A-G c.2177T>C p.V726A Missense 16/16 - 1
2-225339191-T-TAGTAA c.2176-99_2176-98insTTACT - IntronicInsertion - 15/15 1
2-225342917-C-T c.2175G>A p.E725= Synonymous 15/16 - 1
2-225342919-C-A c.2173G>T p.E725* Nonsense 15/16 - 1
2-225342920-C-A c.2172G>T p.A724= Synonymous 15/16 - 1
2-225342920-C-G c.2172G>C p.A724= Synonymous 15/16 - 1
2-225342920-C-T c.2172G>A p.A724= Synonymous 15/16 - 2
2-225342921-G-A c.2171C>T p.A724V Missense 15/16 - 4
2-225342923-T-A c.2169A>T p.V723= Synonymous 15/16 - 1
2-225342924-A-C c.2168T>G p.V723G Missense 15/16 - 1
2-225342928-G-C c.2164C>G p.L722V Missense 15/16 - 5
2-225342933-T-C c.2159A>G p.N720S Missense 15/16 - 1
2-225342936-T-C c.2156A>G p.H719R Missense 15/16 - 3
2-225342938-C-T c.2154G>A p.Q718= Synonymous 15/16 - 2
2-225342939-T-A c.2153A>T p.Q718L Missense 15/16 - 1
2-225342944-C-G c.2148G>C p.K716N Missense 15/16 - 1
2-225342944-TC-T c.2148del p.M717Cfs*6 Frameshift 15/16 - 1
2-225342948-T-A c.2144A>T p.K715M Missense 15/16 - 1
2-225342949-T-TA c.2142_2143insT p.K715* Nonsense 15/16 - 1
2-225342951-C-T c.2141G>A p.R714K Missense 15/16 - 1
2-225342953-A-C c.2139T>G p.S713= Synonymous 15/16 - 1
2-225342953-A-G c.2139T>C p.S713= Synonymous 15/16 - 1
2-225342953-A-T c.2139T>A p.S713= Synonymous 15/16 - 1
2-225342954-G-T c.2138C>A p.S713Y Missense 15/16 - 1
2-225342957-T-C c.2135A>G p.K712R Missense 15/16 - 5
2-225342959-C-A c.2133G>T p.M711I Missense 15/16 - 2
2-225342959-C-G c.2133G>C p.M711I Missense 15/16 - 2
2-225342959-C-T c.2133G>A p.M711I Missense 15/16 - 2
2-225342961-T-C c.2131A>G p.M711V Missense 15/16 - 1
2-225342965-CC-AT c.2126_2127delinsAT p.R709H Missense 15/16 - 1
2-225342966-C-T c.2126G>A p.R709Q Missense 15/16 - 5
2-225342967-G-A c.2125C>T p.R709W Missense 15/16 - 3
2-225342971-T-C c.2121A>G p.I707M Missense 15/16 - 1
2-225342973-T-C c.2119A>G p.I707V Missense 15/16 - 1
2-225342976-C-A c.2116G>T p.A706S Missense 15/16 - 2
2-225342977-AG-CT c.2114_2115inv p.A705E Missense 15/16 - 1
2-225342980-T-C c.2112A>G p.E704= Synonymous 15/16 - 3
2-225342982-C-A c.2110G>T p.E704* Nonsense 15/16 - 1
2-225342982-C-T c.2110G>A p.E704K Missense 15/16 - 1
2-225342986-C-A c.2106G>T p.E702D Missense 15/16 - 2
2-225342986-C-G c.2106G>C p.E702D Missense 15/16 - 3
2-225342987-T-G c.2105A>C p.E702A Missense 15/16 - 1
2-225342990-T-A c.2102A>T p.H701L Missense 15/16 - 1
2-225342990-T-C c.2102A>G p.H701R Missense 15/16 - 2
2-225342989-ATGT-A c.2100_2102del p.K700_H701delinsN MultiAAMissense 15/16 - 1
2-225342991-G-A c.2101C>T p.H701Y Missense 15/16 - 2
2-225342992-T-A c.2100A>T p.K700N Missense 15/16 - 3
2-225342993-T-A c.2099A>T p.K700I Missense 15/16 - 1
2-225342995-T-C c.2097A>G p.R699= Synonymous 15/16 - 1
2-225342995-TCT-CCA c.2095_2097delinsTGG p.R699W Missense 15/16 - 1
2-225342996-C-A c.2096G>T p.R699I Missense 15/16 - 2
2-225342999-T-C c.2093A>G p.D698G Missense 15/16 - 3
2-225343000-C-T c.2092G>A p.D698N Missense 15/16 - 5
2-225343001-G-A c.2091C>T p.D697= Synonymous 15/16 - 1
2-225343003-C-G c.2089G>C p.D697H Missense 15/16 - 2
2-225343003-C-T c.2089G>A p.D697N Missense 15/16 - 1
2-225343004-G-A c.2088C>T p.D696= Synonymous 15/16 - 1
2-225343010-T-C c.2082A>G p.K694= Synonymous 15/16 - 1
2-225343009-CTT-C c.2081_2082del p.K694Sfs*8 Frameshift 15/16 - 1
2-225343011-T-A c.2081A>T p.K694I Missense 15/16 - 1
2-225343015-G-C c.2077C>G p.Q693E Missense 15/16 - 1
2-225343021-T-C c.2071A>G p.T691A Missense 15/16 - 2
2-225343024-C-A c.2068G>T p.E690* Nonsense 15/16 - 3
2-225343026-T-G c.2066A>C p.K689T Missense 15/16 - 1
2-225343027-T-A c.2065A>T p.K689* Nonsense 15/16 - 1
2-225343033-C-G c.2059G>C p.E687Q Missense 15/16 - 3
2-225343033-C-T c.2059G>A p.E687K Missense 15/16 - 6
2-225343036-G-T c.2056C>A p.P686T Missense 15/16 - 1
2-225343039-C-T c.2053G>A p.D685N Missense 15/16 - 4
2-225343040-G-A c.2052C>T p.S684= Synonymous 15/16 - 2
2-225343040-G-T c.2052C>A p.S684= Synonymous 15/16 - 1
2-225343045-C-T c.2047G>A p.E683K Missense 15/16 - 2
2-225343046-A-C c.2046T>G p.G682= Synonymous 15/16 - 1
2-225343047-C-A c.2045G>T p.G682V Missense 15/16 - 1
2-225343047-C-G c.2045G>C p.G682A Missense 15/16 - 2
2-225343053-T-C c.2039A>G p.K680R Missense 15/16 - 1
2-225343208-G-A c.2030-146C>T - IntronicSNV - 14/15 1
2-225343208-G-C c.2030-146C>G - IntronicSNV - 14/15 1
2-225343216-C-CTTAT c.2030-155_2030-154insATAA - IntronicInsertion - 14/15 2
2-225346609-C-A c.2029G>T p.V677F Missense 14/16 - 4
2-225346611-G-A c.2027C>T p.T676I Missense 14/16 - 4
2-225346615-GA-G c.2022del p.Q675Kfs*21 Frameshift 14/16 - 2
2-225346618-T-C c.2020A>G p.I674V Missense 14/16 - 1
2-225346622-G-A c.2016C>T p.V672= Synonymous 14/16 - 4
2-225346622-G-C c.2016C>G p.V672= Synonymous 14/16 - 5
2-225346622-G-T c.2016C>A p.V672= Synonymous 14/16 - 4
2-225346627-T-C c.2011A>G p.R671G Missense 14/16 - 1
2-225346631-T-A c.2007A>T p.L669= Synonymous 14/16 - 1
2-225346631-T-C c.2007A>G p.L669= Synonymous 14/16 - 1
2-225346631-T-G c.2007A>C p.L669= Synonymous 14/16 - 1
2-225346633-G-A c.2005C>T p.L669= Synonymous 14/16 - 1
2-225346638-G-A c.2000C>T p.S667F Missense 14/16 - 4
2-225346640-TG-GT c.1997_1998delinsAC p.T666N Missense 14/16 - 1
2-225346644-AA-TC c.1993_1994delinsGA p.F665D Missense 14/16 - 1
2-225346644-A-T c.1994T>A p.F665Y Missense 14/16 - 2
2-225346646-T-C c.1992A>G p.Q664= Synonymous 14/16 - 18
2-225346651-C-T c.1987G>A p.D663N Missense 14/16 - 1
2-225346654-T-A c.1984A>T p.N662Y Missense 14/16 - 2
2-225346655-A-C c.1983T>G p.V661= Synonymous 14/16 - 1
2-225346655-A-G c.1983T>C p.V661= Synonymous 14/16 - 1
2-225346655-A-T c.1983T>A p.V661= Synonymous 14/16 - 1
2-225346656-A-C c.1982T>G p.V661G Missense 14/16 - 1
2-225346656-A-T c.1982T>A p.V661D Missense 14/16 - 1
2-225346658-TG-CA c.1979_1980inv p.T660M Missense 14/16 - 1
2-225346666-T-C c.1972A>G p.I658V Missense 14/16 - 1
2-225346669-G-A c.1969C>T p.H657Y Missense 14/16 - 1
2-225346670-A-C c.1968T>G p.G656= Synonymous 14/16 - 1
2-225346670-A-G c.1968T>C p.G656= Synonymous 14/16 - 1
2-225346670-A-T c.1968T>A p.G656= Synonymous 14/16 - 1
2-225346672-C-A c.1966G>T p.G656C Missense 14/16 - 1
2-225346672-C-G c.1966G>C p.G656R Missense 14/16 - 1
2-225346672-C-T c.1966G>A p.G656S Missense 14/16 - 1
2-225346678-C-T c.1960G>A p.E654K Missense 14/16 - 2
2-225346679-T-TA c.1958dup p.E654Rfs*9 Frameshift 14/16 - 1
2-225346683-T-G c.1955A>C p.E652A Missense 14/16 - 2
2-225346685-C-T c.1953G>A p.K651= Synonymous 14/16 - 1
2-225346686-T-G c.1952A>C p.K651T Missense 14/16 - 1
2-225346687-T-C c.1951A>G p.K651E Missense 14/16 - 1
2-225346694-G-C c.1944C>G p.P648= Synonymous 14/16 - 1
2-225346695-G-A c.1943C>T p.P648L Missense 14/16 - 3
2-225346699-C-A c.1939G>T p.E647* Nonsense 14/16 - 3
2-225346699-C-T c.1939G>A p.E647K Missense 14/16 - 3
2-225346700-T-C c.1938A>G p.K646= Synonymous 14/16 - 1
2-225346701-TTTG-T c.1934_1936del p.T645del InFrameDeletion 14/16 - 1
2-225346706-A-G c.1932T>C p.L644= Synonymous 14/16 - 1
2-225346707-A-T c.1931T>A p.L644H Missense 14/16 - 1
2-225346708-G-C c.1930C>G p.L644V Missense 14/16 - 1
2-225346709-A-C c.1929T>G p.V643= Synonymous 14/16 - 1
2-225346709-A-G c.1929T>C p.V643= Synonymous 14/16 - 2
2-225346709-A-T c.1929T>A p.V643= Synonymous 14/16 - 1
2-225346711-C-G c.1927G>C p.V643L Missense 14/16 - 1
2-225346713-C-A c.1925G>T p.R642L Missense 14/16 - 1
2-225346714-G-A c.1924C>T p.R642W Missense 14/16 - 3
2-225346717-G-A c.1921C>T p.Q641* Nonsense 14/16 - 1
2-225346726-T-C c.1912A>G p.K638E Missense 14/16 - 1
2-225346735-C-T c.1903G>A p.A635T Missense 14/16 - 6
2-225346739-G-A c.1899C>T p.S633= Synonymous 14/16 - 2
2-225346739-G-C c.1899C>G p.S633= Synonymous 14/16 - 1
2-225346739-G-T c.1899C>A p.S633= Synonymous 14/16 - 1
2-225346749-G-C c.1889C>G p.A630G Missense 14/16 - 1
2-225346752-C-T c.1886G>A p.R629K Missense 14/16 - 1
2-225346754-A-C c.1884T>G p.V628= Synonymous 14/16 - 1
2-225346754-A-G c.1884T>C p.V628= Synonymous 14/16 - 1
2-225346754-A-T c.1884T>A p.V628= Synonymous 14/16 - 1
2-225346756-C-T c.1882G>A p.V628I Missense 14/16 - 2
2-225346757-A-C c.1881T>G p.L627= Synonymous 14/16 - 1
2-225346757-A-G c.1881T>C p.L627= Synonymous 14/16 - 1
2-225346757-A-T c.1881T>A p.L627= Synonymous 14/16 - 1
2-225346758-A-C c.1880T>G p.L627R Missense 14/16 - 2
2-225346759-G-A c.1879C>T p.L627F Missense 14/16 - 1
2-225346763-T-A c.1875A>T p.R625S Missense 14/16 - 1
2-225346763-T-G c.1875A>C p.R625S Missense 14/16 - 1
2-225346768-C-A c.1870G>T p.E624* Nonsense 14/16 - 1
2-225346770-G-T c.1868C>A p.P623H Missense 14/16 - 1
2-225346771-G-T c.1867C>A p.P623T Missense 14/16 - 1
2-225346776-T-C c.1862A>G p.D621G Missense 14/16 - 1
2-225346777-C-T c.1861G>A p.D621N Missense 14/16 - 1
2-225346783-C-A c.1855G>T p.E619* Nonsense 14/16 - 2
2-225346783-C-CA c.1854_1855insT p.E619* Nonsense 14/16 - 1
2-225346783-C-G c.1855G>C p.E619Q Missense 14/16 - 5
2-225346786-G-A c.1852C>T p.Q618* Nonsense 14/16 - 1
2-225346787-C-A c.1851G>T p.Q617H Missense 14/16 - 2
2-225346787-C-G c.1851G>C p.Q617H Missense 14/16 - 1
2-225346787-C-T c.1851G>A p.Q617= Synonymous 14/16 - 1
2-225346789-G-A c.1849C>T p.Q617* Nonsense 14/16 - 2
2-225346792-T-C c.1846A>G p.I616V Missense 14/16 - 1
2-225346795-C-A c.1843G>T p.E615* Nonsense 14/16 - 3
2-225346795-C-T c.1843G>A p.E615K Missense 14/16 - 1
2-225346804-T-G c.1843-9A>C - IntronicSNV - 13/15 1
2-225347713-A-C c.1843-918T>G - IntronicSNV - 13/15 2
2-225348886-A-T c.1843-2091T>A - IntronicSNV - 13/15 1
2-225353649-T-C c.1843-6854A>G - IntronicSNV - 13/15 2
2-225354120-CAA-C c.1842+6427_1842+6428del - IntronicDeletion - 13/15 1
2-225359363-GA-G c.1842+1185del - IntronicDeletion - 13/15 1
2-225360548-C-A c.1842+1G>T - IntronicSNV - 13/15 3
2-225360551-C-A c.1840G>T p.E614* Nonsense 13/16 - 1
2-225360551-C-G c.1840G>C p.E614Q Missense 13/16 - 1
2-225360551-C-T c.1840G>A p.E614K Missense 13/16 - 1
2-225360558-TG-T c.1833del p.Y611* Frameshift 13/16 - 1
2-225360560-AT-A c.1830del p.K610Nfs*44 Frameshift 13/16 - 1
2-225360583-A-G c.1808T>C p.M603T Missense 13/16 - 1
2-225360588-T-A c.1803A>T p.I601= Synonymous 13/16 - 1
2-225360589-A-G c.1802T>C p.I601T Missense 13/16 - 1
2-225360589-AT-TA c.1801_1802delinsTA p.I601* Nonsense 13/16 - 1
2-225360590-T-C c.1801A>G p.I601V Missense 13/16 - 1
2-225360591-G-A c.1800C>T p.T600= Synonymous 13/16 - 1
2-225360594-C-A c.1797G>T p.M599I Missense 13/16 - 1
2-225360594-C-G c.1797G>C p.M599I Missense 13/16 - 1
2-225360594-C-T c.1797G>A p.M599I Missense 13/16 - 1
2-225360595-A-C c.1796T>G p.M599R Missense 13/16 - 4
2-225360597-C-A c.1794G>T p.Q598H Missense 13/16 - 3
2-225360597-C-G c.1794G>C p.Q598H Missense 13/16 - 3
2-225360597-C-T c.1794G>A p.Q598= Synonymous 13/16 - 5
2-225360599-G-A c.1792C>T p.Q598* Nonsense 13/16 - 2
2-225360600-G-C c.1791C>G p.F597L Missense 13/16 - 5
2-225360600-G-T c.1791C>A p.F597L Missense 13/16 - 6
2-225360602-A-G c.1789T>C p.F597L Missense 13/16 - 5
2-225360606-G-A c.1785C>T p.S595= Synonymous 13/16 - 4
2-225360606-G-C c.1785C>G p.S595= Synonymous 13/16 - 1
2-225360606-G-T c.1785C>A p.S595= Synonymous 13/16 - 1
2-225360614-G-A c.1777C>T p.Q593* Nonsense 13/16 - 1
2-225360615-C-T c.1776G>A p.L592= Synonymous 13/16 - 1
2-225360617-A-G c.1774T>C p.L592= Synonymous 13/16 - 1
2-225360618-TAT-AAA c.1771_1773delinsTTT p.I591F Missense 13/16 - 1
2-225360621-G-C c.1770C>G p.H590Q Missense 13/16 - 1
2-225360621-G-T c.1770C>A p.H590Q Missense 13/16 - 1
2-225360625-T-G c.1766A>C p.K589T Missense 13/16 - 2
2-225360628-C-T c.1763G>A p.R588Q Missense 13/16 - 2
2-225360631-GT-TA c.1759_1760delinsTA p.T587* Nonsense 13/16 - 1
2-225360635-T-C c.1756A>G p.N586D Missense 13/16 - 2
2-225360636-A-G c.1755T>C p.S585= Synonymous 13/16 - 1
2-225360638-A-C c.1753T>G p.S585A Missense 13/16 - 1
2-225360640-C-G c.1751G>C p.G584A Missense 13/16 - 1
2-225360642-AGT-TTA c.1747_1749delinsTAA p.T583* Nonsense 13/16 - 2
2-225360655-C-A c.1736G>T p.G579V Missense 13/16 - 1
2-225360656-C-T c.1735G>A p.G579S Missense 13/16 - 4
2-225360660-A-C c.1731T>G p.V577= Synonymous 13/16 - 1
2-225360660-A-G c.1731T>C p.V577= Synonymous 13/16 - 1
2-225360660-A-T c.1731T>A p.V577= Synonymous 13/16 - 1
2-225360662-C-A c.1729G>T p.V577F Missense 13/16 - 1
2-225360665-C-T c.1726G>A p.G576S Missense 13/16 - 1
2-225360671-C-T c.1720G>A p.E574K Missense 13/16 - 1
2-225360677-C-A c.1714G>T p.G572* Nonsense 13/16 - 2
2-225360680-C-T c.1711G>A p.D571N Missense 13/16 - 1
2-225360682-T-C c.1709A>G p.E570G Missense 13/16 - 1
2-225360683-C-A c.1708G>T p.E570* Nonsense 13/16 - 2
2-225360975-T-C c.1708-292A>G - IntronicSNV - 12/15 1
2-225360980-T-C c.1708-297A>G - IntronicSNV - 12/15 1
2-225360985-T-C c.1708-302A>G - IntronicSNV - 12/15 1
2-225362466-T-C c.1707+4A>G - IntronicSNV - 12/15 1
2-225362469-C-A c.1707+1G>T - IntronicSNV - 12/15 1
2-225362476-A-C c.1701T>G p.V567= Synonymous 12/16 - 1
2-225362476-A-G c.1701T>C p.V567= Synonymous 12/16 - 1
2-225362476-A-T c.1701T>A p.V567= Synonymous 12/16 - 1
2-225362477-A-T c.1700T>A p.V567D Missense 12/16 - 1
2-225362478-C-A c.1699G>T p.V567F Missense 12/16 - 1
2-225362478-C-T c.1699G>A p.V567I Missense 12/16 - 41
2-225362480-G-C c.1697C>G p.P566R Missense 12/16 - 1
2-225362480-G-T c.1697C>A p.P566Q Missense 12/16 - 1
2-225362481-G-T c.1696C>A p.P566T Missense 12/16 - 1
2-225362482-T-A c.1695A>T p.G565= Synonymous 12/16 - 1
2-225362490-A-C c.1687T>G p.F563V Missense 12/16 - 1
2-225362493-T-C c.1684A>G p.T562A Missense 12/16 - 1
2-225362495-G-A c.1682C>T p.A561V Missense 12/16 - 1
2-225362501-A-C c.1676T>G p.L559R Missense 12/16 - 2
2-225362504-T-C c.1673A>G p.D558G Missense 12/16 - 1
2-225362506-T-C c.1671A>G p.A557= Synonymous 12/16 - 2
2-225362507-G-A c.1670C>T p.A557V Missense 12/16 - 1
2-225362508-GC-G c.1669del p.A557Qfs*26 Frameshift 12/16 - 1
2-225362510-G-A c.1667C>T p.S556F Missense 12/16 - 1
2-225362511-A-C c.1666T>G p.S556A Missense 12/16 - 1
2-225362511-A-G c.1666T>C p.S556P Missense 12/16 - 1
2-225362514-C-G c.1663G>C p.G555R Missense 12/16 - 1
2-225362515-C-T c.1662G>A p.M554I Missense 12/16 - 1
2-225362516-A-G c.1661T>C p.M554T Missense 12/16 - 1
2-225362520-G-A c.1657C>T p.H553Y Missense 12/16 - 4
2-225362523-G-A c.1654C>T p.H552Y Missense 12/16 - 2
2-225362526-G-A c.1651C>T p.Q551* Nonsense 12/16 - 1
2-225362530-TG-CA c.1646_1647inv p.T549M Missense 12/16 - 1
2-225362533-G-A c.1644C>T p.L548= Synonymous 12/16 - 4
2-225362533-G-C c.1644C>G p.L548= Synonymous 12/16 - 3
2-225362533-G-T c.1644C>A p.L548= Synonymous 12/16 - 3
2-225362536-C-G c.1641G>C p.Q547H Missense 12/16 - 2
2-225362538-G-A c.1639C>T p.Q547* Nonsense 12/16 - 2
2-225362540-C-A c.1637G>T p.R546L Missense 12/16 - 2
2-225362540-C-G c.1637G>C p.R546P Missense 12/16 - 3
2-225362540-C-T c.1637G>A p.R546Q Missense 12/16 - 2
2-225362541-G-A c.1636C>T p.R546* Nonsense 12/16 - 9
2-225362546-CT-GG c.1630_1631delinsCC p.S544P Missense 12/16 - 1
2-225362547-T-A c.1630A>T p.S544C Missense 12/16 - 1
2-225362552-T-A c.1625A>T p.K542I Missense 12/16 - 2
2-225362556-C-A c.1621G>T p.A541S Missense 12/16 - 1
2-225362558-A-T c.1619T>A p.L540* Nonsense 12/16 - 1
2-225362559-A-C c.1618T>G p.L540V Missense 12/16 - 1
2-225362561-T-C c.1616A>G p.Y539C Missense 12/16 - 5
2-225362563-AGAAC-A c.1611_1614del p.R537Sfs*3 SpliceAcceptorDeletion 12/16 - 1
2-225362563-G-A c.1614C>T p.F538= Synonymous 12/16 - 1
2-225362564-A-T c.1613T>A p.F538Y Missense 12/16 - 1
2-225362566-C-A c.1611G>T p.R537S Missense 12/16 - 1
2-225362566-C-G c.1611G>C p.R537S Missense 12/16 - 1
2-225362566-C-T c.1611G>A p.R537= Synonymous 12/16 - 1
2-225362798-A-G c.1611-232T>C - IntronicSNV - 11/15 1
2-225364937-T-C c.1610+143A>G - IntronicSNV - 11/15 3
2-225365056-A-G c.1610+24T>C - IntronicSNV - 11/15 9
2-225365078-A-C c.1610+2T>G - IntronicSNV - 11/15 1
2-225365079-C-A c.1610+1G>T - IntronicSNV - 11/15 1
2-225365080-CT-TG c.1609_1610delinsCA p.R537Q Missense 11/16 - 1
2-225365081-T-G c.1609A>C p.R537= Synonymous 11/16 - 1
2-225365082-TCT-ACA c.1606_1608delinsTGT p.R536C Missense 11/16 - 1
2-225365083-C-T c.1607G>A p.R536K Missense 11/16 - 1
2-225365085-TG-T c.1605del p.F535Lfs*6 Frameshift 11/16 - 1
2-225365090-T-C c.1600A>G p.I534V Missense 11/16 - 1
2-225365091-C-T c.1599G>A p.E533= Synonymous 11/16 - 2
2-225365093-C-G c.1597G>C p.E533Q Missense 11/16 - 4
2-225365095-A-G c.1595T>C p.F532S Missense 11/16 - 1
2-225365095-A-T c.1595T>A p.F532Y Missense 11/16 - 1
2-225365098-G-A c.1592C>T p.A531V Missense 11/16 - 2
2-225365104-C-A c.1586G>T p.R529I Missense 11/16 - 1
2-225365104-C-T c.1586G>A p.R529K Missense 11/16 - 1
2-225365105-T-C c.1585A>G p.R529G Missense 11/16 - 1
2-225365108-G-A c.1582C>T p.P528S Missense 11/16 - 2
2-225365109-T-A c.1581A>T p.A527= Synonymous 11/16 - 6
2-225365109-T-C c.1581A>G p.A527= Synonymous 11/16 - 1
2-225365109-T-G c.1581A>C p.A527= Synonymous 11/16 - 1
2-225365110-G-A c.1580C>T p.A527V Missense 11/16 - 1
2-225365111-C-G c.1579G>C p.A527P Missense 11/16 - 1
2-225365113-G-A c.1577C>T p.P526L Missense 11/16 - 2
2-225365114-G-A c.1576C>T p.P526S Missense 11/16 - 2
2-225365117-G-A c.1573C>T p.P525S Missense 11/16 - 1
2-225365118-G-A c.1572C>T p.I524= Synonymous 11/16 - 1
2-225365125-C-A c.1565G>T p.C522F Missense 11/16 - 1
2-225365127-C-A c.1563G>T p.K521N Missense 11/16 - 1
2-225365127-C-G c.1563G>C p.K521N Missense 11/16 - 1
2-225365127-C-T c.1563G>A p.K521= Synonymous 11/16 - 1
2-225365129-T-A c.1561A>T p.K521* Nonsense 11/16 - 2
2-225365132-G-A c.1558C>T p.P520S Missense 11/16 - 4
2-225365134-G-C c.1556C>G p.T519R Missense 11/16 - 1
2-225365135-T-A c.1555A>T p.T519S Missense 11/16 - 1
2-225365136-G-A c.1554C>T p.A518= Synonymous 11/16 - 1
2-225365138-C-T c.1552G>A p.A518T Missense 11/16 - 1
2-225365140-G-C c.1550C>G p.S517* Nonsense 11/16 - 1
2-225365137-GCTGA-G c.1549_1552del p.S517Pfs*23 Frameshift 11/16 - 1
2-225365142-C-G c.1548G>C p.Q516H Missense 11/16 - 1
2-225365144-G-A c.1546C>T p.Q516* Nonsense 11/16 - 1
2-225365144-G-T c.1546C>A p.Q516K Missense 11/16 - 1
2-225365145-A-C c.1545T>G p.T515= Synonymous 11/16 - 1
2-225365145-A-G c.1545T>C p.T515= Synonymous 11/16 - 1
2-225365145-A-T c.1545T>A p.T515= Synonymous 11/16 - 1
2-225365146-G-A c.1544C>T p.T515I Missense 11/16 - 2
2-225365146-G-C c.1544C>G p.T515S Missense 11/16 - 1
2-225365147-T-A c.1543A>T p.T515S Missense 11/16 - 1
2-225365151-C-T c.1539G>A p.W513* Nonsense 11/16 - 1
2-225365152-C-T c.1538G>A p.W513* Nonsense 11/16 - 2
2-225365156-A-T c.1534T>A p.Y512N Missense 11/16 - 1
2-225365159-C-G c.1531G>C p.G511R Missense 11/16 - 1
2-225365159-C-T c.1531G>A p.G511R Missense 11/16 - 3
2-225365162-T-C c.1528A>G p.T510A Missense 11/16 - 1
2-225365163-C-A c.1527G>T p.T509= Synonymous 11/16 - 1
2-225365163-C-G c.1527G>C p.T509= Synonymous 11/16 - 1
2-225365163-CG-GT c.1526_1527delinsAC p.T509N Missense 11/16 - 1
2-225365163-C-T c.1527G>A p.T509= Synonymous 11/16 - 1
2-225365164-G-A c.1526C>T p.T509M Missense 11/16 - 6
2-225365168-G-A c.1522C>T p.L508F Missense 11/16 - 1
2-225365170-A-T c.1520T>A p.V507E Missense 11/16 - 1
2-225365171-C-T c.1519G>A p.V507M Missense 11/16 - 3
2-225365172-C-T c.1518G>A p.R506= Synonymous 11/16 - 1
2-225365173-C-A c.1517G>T p.R506L Missense 11/16 - 1
2-225365174-G-A c.1516C>T p.R506W Missense 11/16 - 7
2-225365186-C-A c.1504G>T p.D502Y Missense 11/16 - 1
2-225365189-C-A c.1501G>T p.V501F Missense 11/16 - 3
2-225365189-C-T c.1501G>A p.V501I Missense 11/16 - 17
2-225365190-A-C c.1500T>G p.G500= Synonymous 11/16 - 1
2-225365190-A-G c.1500T>C p.G500= Synonymous 11/16 - 1
2-225365190-A-T c.1500T>A p.G500= Synonymous 11/16 - 1
2-225365191-C-A c.1499G>T p.G500V Missense 11/16 - 1
2-225365191-C-G c.1499G>C p.G500A Missense 11/16 - 1
2-225365191-C-T c.1499G>A p.G500D Missense 11/16 - 1
2-225365193-A-C c.1497T>G p.G499= Synonymous 11/16 - 1
2-225365193-A-G c.1497T>C p.G499= Synonymous 11/16 - 1
2-225365193-A-T c.1497T>A p.G499= Synonymous 11/16 - 1
2-225365194-C-T c.1496G>A p.G499D Missense 11/16 - 1
2-225365195-C-T c.1495G>A p.G499S Missense 11/16 - 2
2-225365196-T-A c.1494A>T p.L498F Missense 11/16 - 1
2-225365196-T-G c.1494A>C p.L498F Missense 11/16 - 1
2-225365200-G-A c.1490C>T p.S497F Missense 11/16 - 2
2-225365635-C-A c.1486-431G>T - IntronicSNV - 10/15 2
2-225367580-G-A c.1485+102C>T - IntronicSNV - 10/15 1
2-225367669-C-T c.1485+13G>A - IntronicSNV - 10/15 10
2-225367682-ACC-CCA c.1483_1485delinsTGG p.G495W Missense 10/16 - 1
2-225367683-C-A c.1484G>T p.G495V Missense 10/16 - 1
2-225367684-C-G c.1483G>C p.G495R Missense 10/16 - 1
2-225367687-GTTGC-G c.1477_1480del p.A493Lfs*5 Frameshift 10/16 - 1
2-225367689-G-C c.1478C>G p.A493G Missense 10/16 - 1
2-225367690-C-T c.1477G>A p.A493T Missense 10/16 - 1
2-225367699-G-A c.1468C>T p.H490Y Missense 10/16 - 1
2-225367700-T-C c.1467A>G p.Q489= Synonymous 10/16 - 3
2-225367700-TTGCC-T c.1463_1466del p.R488Nfs*10 Frameshift 10/16 - 1
2-225367709-T-A c.1458A>T p.E486D Missense 10/16 - 1
2-225367709-T-G c.1458A>C p.E486D Missense 10/16 - 1
2-225367711-C-T c.1456G>A p.E486K Missense 10/16 - 2
2-225367714-CCAT-C c.1450_1452del p.M484del InFrameDeletion 10/16 - 1
2-225367718-C-A c.1449G>T p.T483= Synonymous 10/16 - 1
2-225367718-C-G c.1449G>C p.T483= Synonymous 10/16 - 1
2-225367718-C-T c.1449G>A p.T483= Synonymous 10/16 - 1
2-225367719-G-A c.1448C>T p.T483M Missense 10/16 - 2
2-225367722-G-T c.1445C>A p.T482K Missense 10/16 - 1
2-225367723-T-G c.1444A>C p.T482P Missense 10/16 - 1
2-225367724-G-A c.1443C>T p.N481= Synonymous 10/16 - 1
2-225367728-G-C c.1439C>G p.S480* Nonsense 10/16 - 4
2-225367730-G-C c.1437C>G p.I479M Missense 10/16 - 1
2-225367734-C-G c.1433G>C p.S478T Missense 10/16 - 1
2-225367735-TCATATCCCTAAA-T c.1420_1431del p.F474_M477del InFrameDeletion 10/16 - 1
2-225367741-C-A c.1426G>T p.D476Y Missense 10/16 - 1
2-225367741-C-T c.1426G>A p.D476N Missense 10/16 - 1
2-225367743-CT-TG c.1423_1424delinsCA p.R475Q Missense 10/16 - 1
2-225367750-T-A c.1417A>T p.M473L Missense 10/16 - 4
2-225367750-T-G c.1417A>C p.M473L Missense 10/16 - 1
2-225367752-C-A c.1415G>T p.G472V Missense 10/16 - 1
2-225367752-C-T c.1415G>A p.G472E Missense 10/16 - 3
2-225367753-C-A c.1414G>T p.G472* Nonsense 10/16 - 2
2-225367756-C-T c.1411G>A p.E471K Missense 10/16 - 2
2-225367762-T-C c.1405A>G p.K469E Missense 10/16 - 1
2-225367766-C-A c.1401G>T p.T467= Synonymous 10/16 - 1
2-225367766-C-G c.1401G>C p.T467= Synonymous 10/16 - 1
2-225367766-C-T c.1401G>A p.T467= Synonymous 10/16 - 1
2-225367767-G-A c.1400C>T p.T467M Missense 10/16 - 2
2-225367770-A-T c.1397T>A p.F466Y Missense 10/16 - 1
2-225367772-ACT-A c.1394_1395del p.Q465Lfs*10 Frameshift 10/16 - 1
2-225367772-C-T c.1395G>A p.Q465= Synonymous 10/16 - 1
2-225367779-C-A c.1388G>T p.G463V Missense 10/16 - 1
2-225367784-T-A c.1383A>T p.E461D Missense 10/16 - 1
2-225367786-C-T c.1381G>A p.E461K Missense 10/16 - 1
2-225367789-T-C c.1378A>G p.T460A Missense 10/16 - 1
2-225367995-C-T c.1378-206G>A - IntronicSNV - 9/15 1
2-225367996-C-G c.1378-207G>C - IntronicSNV - 9/15 1
2-225368321-A-G c.1377+48T>C - IntronicSNV - 9/15 11
2-225368365-T-C c.1377+4A>G - IntronicSNV - 9/15 1
2-225368366-T-A c.1377+3A>T - IntronicSNV - 9/15 1
2-225368366-T-C c.1377+3A>G - IntronicSNV - 9/15 3
2-225368367-A-G c.1377+2T>C - IntronicSNV - 9/15 3
2-225368364-CTTACCT-C c.1376_1377+4del - SpliceDonorDeletion 9/16 9/15 2
2-225368368-C-A c.1377+1G>T - IntronicSNV - 9/15 3
2-225368368-C-G c.1377+1G>C - IntronicSNV - 9/15 3
2-225368368-C-T c.1377+1G>A - IntronicSNV - 9/15 4
2-225368369-C-A c.1377G>T p.K459N Missense 9/16 - 1
2-225368369-CCT-C c.1376_1377del p.K459Nfs*2 SpliceDonorDeletion 9/16 - 1
2-225368369-C-G c.1377G>C p.K459N Missense 9/16 - 3
2-225368369-C-T c.1377G>A p.K459= Synonymous 9/16 - 2
2-225368370-T-A c.1376A>T p.K459M Missense 9/16 - 1
2-225368370-T-C c.1376A>G p.K459R Missense 9/16 - 7
2-225368371-T-A c.1375A>T p.K459* Nonsense 9/16 - 2
2-225368377-TAG-T c.1367_1368del p.S456* Frameshift 9/16 - 1
2-225368379-G-A c.1367C>T p.S456F Missense 9/16 - 1
2-225368380-A-G c.1366T>C p.S456P Missense 9/16 - 1
2-225368382-A-AT c.1363dup p.I455Nfs*3 Frameshift 9/16 - 5
2-225368384-C-A c.1362G>T p.M454I Missense 9/16 - 1
2-225368384-C-G c.1362G>C p.M454I Missense 9/16 - 1
2-225368384-C-T c.1362G>A p.M454I Missense 9/16 - 1
2-225368386-AT-A c.1360del p.M454* Frameshift 9/16 - 1
2-225368389-T-C c.1357A>G p.N453D Missense 9/16 - 1
2-225368389-T-TA c.1356_1357insT p.N453* Nonsense 9/16 - 1
2-225368390-T-G c.1356A>C p.K452N Missense 9/16 - 1
2-225368392-T-C c.1354A>G p.K452E Missense 9/16 - 3
2-225368392-T-G c.1354A>C p.K452Q Missense 9/16 - 1
2-225368392-TTTTC-T c.1351_1354del p.E451Kfs*3 Frameshift 9/16 - 1
2-225368387-G-GT c.1358dup p.N453Kfs*5 Frameshift 9/16 - 2
2-225368387-GT-G c.1358del p.N453Tfs*2 Frameshift 9/16 - 2
2-225368395-C-T c.1351G>A p.E451K Missense 9/16 - 3
2-225368395-TCAGAG-T c.1347_1351del p.D449Efs*7 Frameshift 9/16 - 1
2-225368396-A-C c.1350T>G p.S450= Synonymous 9/16 - 1
2-225368396-A-G c.1350T>C p.S450= Synonymous 9/16 - 1
2-225368396-A-T c.1350T>A p.S450= Synonymous 9/16 - 1
2-225368397-G-A c.1349C>T p.S450F Missense 9/16 - 1
2-225368397-G-GATT c.1348_1349insAAT p.D449_S450ins* InFrameInsertion 9/16 - 1
2-225368399-G-A c.1347C>T p.D449= Synonymous 9/16 - 1
2-225368403-T-G c.1343A>C p.D448A Missense 9/16 - 1
2-225368404-C-A c.1342G>T p.D448Y Missense 9/16 - 1
2-225368406-G-A c.1340C>T p.S447F Missense 9/16 - 1
2-225368411-A-G c.1335T>C p.S445= Synonymous 9/16 - 1
2-225368412-C-CT c.1333dup p.S445Kfs*4 Frameshift 9/16 - 1
2-225368412-CTTTTA-C c.1329_1333del p.N443Kfs*4 Frameshift 9/16 - 1
2-225368421-G-C c.1325C>G p.T442R Missense 9/16 - 5
2-225368421-G-T c.1325C>A p.T442K Missense 9/16 - 1
2-225368423-G-A c.1323C>T p.L441= Synonymous 9/16 - 1
2-225368423-G-C c.1323C>G p.L441= Synonymous 9/16 - 1
2-225368423-G-T c.1323C>A p.L441= Synonymous 9/16 - 1
2-225368425-G-A c.1321C>T p.L441F Missense 9/16 - 1
2-225368427-A-G c.1319T>C p.L440P Missense 9/16 - 2
2-225368428-G-A c.1318C>T p.L440F Missense 9/16 - 1
2-225368429-TCT-CCA c.1315_1317delinsTGG p.R439W Missense 9/16 - 1
2-225368430-C-T c.1316G>A p.R439K Missense 9/16 - 1
2-225368431-T-C c.1315A>G p.R439G Missense 9/16 - 1
2-225368432-C-G c.1314G>C p.R438S Missense 9/16 - 1
2-225368433-C-A c.1313G>T p.R438M Missense 9/16 - 1
2-225368434-T-C c.1312A>G p.R438G Missense 9/16 - 1
2-225368438-CAA-GAT c.1306_1308delinsATC p.L436I Missense 9/16 - 1
2-225368438-C-CA c.1307dup p.L436Ffs*9 Frameshift 9/16 - 1
2-225368445-T-C c.1301A>G p.Q434R Missense 9/16 - 1
2-225368449-T-C c.1297A>G p.K433E Missense 9/16 - 1
2-225368453-A-G c.1293T>C p.Y431= Synonymous 9/16 - 1
2-225368453-A-T c.1293T>A p.Y431* Nonsense 9/16 - 1
2-225368455-A-G c.1291T>C p.Y431H Missense 9/16 - 1
2-225368457-C-A c.1289G>T p.R430L Missense 9/16 - 1
2-225368457-C-G c.1289G>C p.R430P Missense 9/16 - 1
2-225368457-C-T c.1289G>A p.R430H Missense 9/16 - 2
2-225368458-G-A c.1288C>T p.R430C Missense 9/16 - 1
2-225368461-C-T c.1285G>A p.E429K Missense 9/16 - 8
2-225368462-A-T c.1284T>A p.F428L Missense 9/16 - 1
2-225368463-A-G c.1283T>C p.F428S Missense 9/16 - 1
2-225368467-C-G c.1279G>C p.V427L Missense 9/16 - 1
2-225368467-C-T c.1279G>A p.V427I Missense 9/16 - 1
2-225368468-A-C c.1278T>G p.D426E Missense 9/16 - 1
2-225368468-A-T c.1278T>A p.D426E Missense 9/16 - 1
2-225368470-C-A c.1276G>T p.D426Y Missense 9/16 - 2
2-225368470-C-G c.1276G>C p.D426H Missense 9/16 - 5
2-225368470-C-CT c.1275dup p.D426Rfs*4 Frameshift 9/16 - 1
2-225368476-C-A c.1270G>T p.E424* Nonsense 9/16 - 1
2-225368476-C-G c.1270G>C p.E424Q Missense 9/16 - 3
2-225368476-C-T c.1270G>A p.E424K Missense 9/16 - 2
2-225368477-T-C c.1269A>G p.Q423= Synonymous 9/16 - 1
2-225368480-C-T c.1266G>A p.M422I Missense 9/16 - 1
2-225368484-A-G c.1262T>C p.F421S Missense 9/16 - 1
2-225368487-C-A c.1259G>T p.R420M Missense 9/16 - 2
2-225368491-A-C c.1255T>G p.F419V Missense 9/16 - 1
2-225368492-A-C c.1254T>G p.L418= Synonymous 9/16 - 1
2-225368492-A-G c.1254T>C p.L418= Synonymous 9/16 - 1
2-225368492-A-T c.1254T>A p.L418= Synonymous 9/16 - 1
2-225368493-A-C c.1253T>G p.L418R Missense 9/16 - 2
2-225368493-AG-CT c.1252_1253inv p.L418S Missense 9/16 - 1
2-225368494-G-T c.1252C>A p.L418I Missense 9/16 - 1
2-225368499-CA-C c.1247del p.M416Rfs*39 Frameshift 9/16 - 1
2-225368499-CAT-C c.1246_1247del p.M416Gfs*4 Frameshift 9/16 - 1
2-225368505-T-C c.1241A>G p.K414R Missense 9/16 - 2
2-225368506-T-C c.1240A>G p.K414E Missense 9/16 - 1
2-225368506-T-G c.1240A>C p.K414Q Missense 9/16 - 1
2-225368508-T-C c.1238A>G p.D413G Missense 9/16 - 8
2-225368509-C-T c.1237G>A p.D413N Missense 9/16 - 1
2-225368510-C-T c.1236G>A p.L412= Synonymous 9/16 - 4
2-225368512-A-G c.1234T>C p.L412= Synonymous 9/16 - 2
2-225368515-T-A c.1231A>T p.I411L Missense 9/16 - 1
2-225368515-T-G c.1231A>C p.I411L Missense 9/16 - 1
2-225368517-G-A c.1229C>T p.T410I Missense 9/16 - 5
2-225368521-C-A c.1225G>T p.E409* Nonsense 9/16 - 1
2-225368521-C-T c.1225G>A p.E409K Missense 9/16 - 1
2-225368525-T-C c.1221A>G p.E407= Synonymous 9/16 - 1
2-225368527-C-A c.1219G>T p.E407* Nonsense 9/16 - 1
2-225368533-C-G c.1213G>C p.E405Q Missense 9/16 - 1
2-225368533-C-T c.1213G>A p.E405K Missense 9/16 - 1
2-225368535-G-A c.1211C>T p.T404I Missense 9/16 - 3
2-225368538-A-T c.1208T>A p.L403Q Missense 9/16 - 1
2-225368539-G-C c.1207C>G p.L403V Missense 9/16 - 1
2-225368540-C-T c.1207-1G>A - IntronicSNV - 8/15 1
2-225370554-C-A c.1206+119G>T - IntronicSNV - 8/15 2
2-225370672-C-A c.1206+1G>T - IntronicSNV - 8/15 3
2-225370675-C-A c.1204G>T p.G402W Missense 8/16 - 1
2-225370675-C-G c.1204G>C p.G402R Missense 8/16 - 1
2-225370675-C-T c.1204G>A p.G402R Missense 8/16 - 1
2-225370680-A-C c.1199T>G p.V400G Missense 8/16 - 1
2-225370684-C-G c.1195G>C p.G399R Missense 8/16 - 1
2-225370684-C-T c.1195G>A p.G399R Missense 8/16 - 1
2-225370686-T-C c.1193A>G p.K398R Missense 8/16 - 6
2-225370687-T-TA c.1191_1192insT p.K398* Nonsense 8/16 - 1
2-225370695-T-G c.1184A>C p.K395T Missense 8/16 - 1
2-225370697-A-T c.1182T>A p.D394E Missense 8/16 - 1
2-225370699-C-A c.1180G>T p.D394Y Missense 8/16 - 1
2-225370700-CAT-C c.1178_1179del p.D393Gfs*2 Frameshift 8/16 - 1
2-225370708-A-C c.1171T>G p.F391V Missense 8/16 - 1
2-225370710-A-T c.1169T>A p.L390* Nonsense 8/16 - 1
2-225370713-G-A c.1166C>T p.S389L Missense 8/16 - 3
2-225370716-A-C c.1163T>G p.L388R Missense 8/16 - 1
2-225370719-T-A c.1160A>T p.Y387F Missense 8/16 - 1
2-225370723-C-T c.1156G>A p.E386K Missense 8/16 - 3
2-225370724-AGG-TTA c.1153_1155delinsTAA p.P385* Nonsense 8/16 - 1
2-225370726-G-A c.1153C>T p.P385S Missense 8/16 - 1
2-225370725-GGA-G c.1152_1153del p.P385* Frameshift 8/16 - 2
2-225370729-A-C c.1150T>G p.S384A Missense 8/16 - 1
2-225370729-A-AC c.1149dup p.S384Vfs*3 Frameshift 8/16 - 1
2-225370731-C-A c.1148G>T p.R383M Missense 8/16 - 3
2-225370732-CTG-C c.1146_1147del p.R383Vfs*3 Frameshift 8/16 - 1
2-225370737-T-A c.1142A>T p.N381I Missense 8/16 - 1
2-225370741-G-T c.1138C>A p.L380I Missense 8/16 - 1
2-225370742-G-A c.1137C>T p.N379= Synonymous 8/16 - 1
2-225370744-T-C c.1135A>G p.N379D Missense 8/16 - 2
2-225370746-A-G c.1133T>C p.L378P Missense 8/16 - 1
2-225370748-A-C c.1131T>G p.F377L Missense 8/16 - 1
2-225370748-A-T c.1131T>A p.F377L Missense 8/16 - 1
2-225370750-A-G c.1129T>C p.F377L Missense 8/16 - 1
2-225370752-T-A c.1127A>T p.Y376F Missense 8/16 - 1
2-225370756-C-A c.1123G>T p.E375* Nonsense 8/16 - 3
2-225370756-C-G c.1123G>C p.E375Q Missense 8/16 - 1
2-225370756-C-T c.1123G>A p.E375K Missense 8/16 - 1
2-225370764-C-A c.1115G>T p.G372V Missense 8/16 - 1
2-225370764-C-T c.1115G>A p.G372D Missense 8/16 - 1
2-225370765-C-T c.1114G>A p.G372S Missense 8/16 - 1
2-225370763-AC-A c.1115del p.G372Vfs*25 Frameshift 8/16 - 1
2-225370766-C-A c.1113G>T p.A371= Synonymous 8/16 - 3
2-225370766-C-G c.1113G>C p.A371= Synonymous 8/16 - 1
2-225370766-C-T c.1113G>A p.A371= Synonymous 8/16 - 1
2-225370767-G-A c.1112C>T p.A371V Missense 8/16 - 1
2-225370768-C-T c.1111G>A p.A371T Missense 8/16 - 2
2-225370769-A-G c.1110T>C p.I370= Synonymous 8/16 - 1
2-225370770-A-G c.1109T>C p.I370T Missense 8/16 - 1
2-225370771-T-A c.1108A>T p.I370F Missense 8/16 - 3
2-225370773-G-A c.1106C>T p.T369I Missense 8/16 - 1
2-225370773-G-GT c.1105dup p.T369Nfs*5 Frameshift 8/16 - 1
2-225370773-GT-G c.1105del p.T369Lfs*28 Frameshift 8/16 - 1
2-225370778-GTTT-G c.1099_1101del p.K367del InFrameDeletion 8/16 - 1
2-225370780-TA-T c.1098del p.F366Lfs*31 Frameshift 8/16 - 1
2-225370784-G-A c.1095C>T p.L365= Synonymous 8/16 - 2
2-225370786-G-C c.1093C>G p.L365V Missense 8/16 - 1
2-225370788-C-T c.1091G>A p.R364H Missense 8/16 - 2
2-225370789-G-A c.1090C>T p.R364C Missense 8/16 - 1
2-225370789-G-T c.1090C>A p.R364S Missense 8/16 - 1
2-225370792-C-T c.1087G>A p.D363N Missense 8/16 - 3
2-225370794-T-C c.1085A>G p.N362S Missense 8/16 - 1
2-225370807-C-G c.1072G>C p.E358Q Missense 8/16 - 1
2-225370813-G-A c.1066C>T p.L356F Missense 8/16 - 4
2-225370814-G-A c.1065C>T p.F355= Synonymous 8/16 - 1
2-225370814-G-T c.1065C>A p.F355L Missense 8/16 - 2
2-225370815-A-G c.1064T>C p.F355S Missense 8/16 - 2
2-225370822-C-T c.1057G>A p.D353N Missense 8/16 - 2
2-225370823-G-A c.1056C>T p.F352= Synonymous 8/16 - 3
2-225370826-C-A c.1053G>T p.R351S Missense 8/16 - 1
2-225370826-C-G c.1053G>C p.R351S Missense 8/16 - 1
2-225370827-CT-TG c.1051_1052delinsCA p.R351Q Missense 8/16 - 1
2-225370832-C-A c.1047G>T p.K349N Missense 8/16 - 2
2-225370832-C-G c.1047G>C p.K349N Missense 8/16 - 2
2-225370836-CA-C c.1043del p.L348Rfs*49 Frameshift 8/16 - 1
2-225370839-T-C c.1040A>G p.D347G Missense 8/16 - 1
2-225370840-C-T c.1039G>A p.D347N Missense 8/16 - 1
2-225370841-CAA-GTC c.1036_1038delinsGAC p.L346D Missense 8/16 - 1
2-225370841-C-T c.1038G>A p.L346= Synonymous 8/16 - 1
2-225370843-A-G c.1036T>C p.L346= Synonymous 8/16 - 1
2-225370844-TAA-GTC c.1033_1035delinsGAC p.L345D Missense 8/16 - 1
2-225370845-A-G c.1034T>C p.L345S Missense 8/16 - 1
2-225370848-C-T c.1031G>A p.G344D Missense 8/16 - 1
2-225370849-C-T c.1030G>A p.G344S Missense 8/16 - 2
2-225371552-G-C c.1029+23C>G - IntronicSNV - 7/15 1
2-225371552-G-T c.1029+23C>A - IntronicSNV - 7/15 1
2-225371574-C-G c.1029+1G>C - IntronicSNV - 7/15 1
2-225371574-C-T c.1029+1G>A - IntronicSNV - 7/15 1
2-225371576-T-C c.1028A>G p.Q343R Missense 7/16 - 1
2-225371577-G-A c.1027C>T p.Q343* Nonsense 7/16 - 1
2-225371578-G-A c.1026C>T p.I342= Synonymous 7/16 - 2
2-225371578-GA-CC c.1025_1026delinsGG p.I342R Missense 7/16 - 1
2-225371580-T-A c.1024A>T p.I342F Missense 7/16 - 2
2-225371580-T-C c.1024A>G p.I342V Missense 7/16 - 2
2-225371582-T-C c.1022A>G p.Y341C Missense 7/16 - 1
2-225371584-G-C c.1020C>G p.D340E Missense 7/16 - 1
2-225371584-G-T c.1020C>A p.D340E Missense 7/16 - 1
2-225371591-G-A c.1013C>T p.P338L Missense 7/16 - 1
2-225371591-G-T c.1013C>A p.P338H Missense 7/16 - 3
2-225371592-G-A c.1012C>T p.P338S Missense 7/16 - 1
2-225371595-T-A c.1009A>T p.N337Y Missense 7/16 - 1
2-225371601-C-T c.1003G>A p.G335R Missense 7/16 - 1
2-225371605-TCC-ACA c.997_999delinsTGT p.G333C Missense 7/16 - 1
2-225371605-TCC-GCT c.997_999delinsAGC p.G333S Missense 7/16 - 1
2-225371603-TCTC-T c.998_1000del p.G333del InFrameDeletion 7/16 - 2
2-225371606-C-A c.998G>T p.G333V Missense 7/16 - 1
2-225371606-C-G c.998G>C p.G333A Missense 7/16 - 2
2-225371607-C-G c.997G>C p.G333R Missense 7/16 - 1
2-225371607-C-T c.997G>A p.G333R Missense 7/16 - 1
2-225371614-AGA-CTC c.988_990delinsGAG p.S330E Missense 7/16 - 1
2-225371615-G-A c.989C>T p.S330F Missense 7/16 - 2
2-225371615-G-T c.989C>A p.S330Y Missense 7/16 - 3
2-225371616-A-C c.988T>G p.S330A Missense 7/16 - 1
2-225371622-G-T c.982C>A p.L328I Missense 7/16 - 1
2-225371625-C-A c.979G>T p.A327S Missense 7/16 - 1
2-225371627-T-C c.977A>G p.K326R Missense 7/16 - 1
2-225371630-C-G c.974G>C p.G325A Missense 7/16 - 1
2-225371631-C-A c.973G>T p.G325C Missense 7/16 - 3
2-225371634-G-A c.970C>T p.Q324* Nonsense 7/16 - 1
2-225371637-C-A c.967G>T p.E323* Nonsense 7/16 - 1
2-225371639-C-G c.965G>C p.R322T Missense 7/16 - 1
2-225371641-C-A c.963G>T p.L321F Missense 7/16 - 2
2-225371641-C-G c.963G>C p.L321F Missense 7/16 - 2
2-225371645-T-C c.959A>G p.Y320C Missense 7/16 - 4
2-225371648-G-A c.956C>T p.S319F Missense 7/16 - 2
2-225371648-GA-CC c.955_956delinsGG p.S319G Missense 7/16 - 1
2-225371651-C-A c.953G>T p.S318I Missense 7/16 - 1
2-225371652-T-A c.952A>T p.S318C Missense 7/16 - 3
2-225371653-C-A c.951G>T p.M317I Missense 7/16 - 1
2-225371653-C-G c.951G>C p.M317I Missense 7/16 - 1
2-225371653-C-T c.951G>A p.M317I Missense 7/16 - 1
2-225371654-A-C c.950T>G p.M317R Missense 7/16 - 1
2-225371656-A-G c.948T>C p.C316= Synonymous 7/16 - 1
2-225371660-T-A c.944A>T p.E315V Missense 7/16 - 2
2-225371662-A-C c.942T>G p.C314W Missense 7/16 - 1
2-225371664-A-G c.940T>C p.C314R Missense 7/16 - 1
2-225371665-C-A c.939G>T p.M313I Missense 7/16 - 1
2-225371665-C-G c.939G>C p.M313I Missense 7/16 - 1
2-225371665-C-T c.939G>A p.M313I Missense 7/16 - 1
2-225371667-T-C c.937A>G p.M313V Missense 7/16 - 1
2-225371674-C-A c.930G>T p.L310F Missense 7/16 - 1
2-225371679-C-A c.925G>T p.G309C Missense 7/16 - 3
2-225371679-C-T c.925G>A p.G309S Missense 7/16 - 1
2-225371682-T-A c.922A>T p.N308Y Missense 7/16 - 1
2-225371680-A-AT c.923dup p.N308Kfs*8 Frameshift 7/16 - 1
2-225371686-C-A c.918G>T p.V306= Synonymous 7/16 - 1
2-225371686-C-G c.918G>C p.V306= Synonymous 7/16 - 1
2-225371686-C-T c.918G>A p.V306= Synonymous 7/16 - 1
2-225371687-A-G c.917T>C p.V306A Missense 7/16 - 1
2-225371687-CA-C c.917del p.V306Gfs*5 Frameshift 7/16 - 1
2-225371688-C-T c.916G>A p.V306M Missense 7/16 - 1
2-225371690-C-T c.914G>A p.R305H Missense 7/16 - 4
2-225371691-G-A c.913C>T p.R305C Missense 7/16 - 1
2-225371692-A-G c.912T>C p.S304= Synonymous 7/16 - 1
2-225371693-CTAAA-C c.907_910del p.F303Vfs*7 Frameshift 7/16 - 1
2-225371701-C-T c.903G>A p.K301= Synonymous 7/16 - 1
2-225371702-T-A c.902A>T p.K301M Missense 7/16 - 1
2-225371702-T-C c.902A>G p.K301R Missense 7/16 - 1
2-225371708-A-C c.896T>G p.M299R Missense 7/16 - 10
2-225371708-A-G c.896T>C p.M299T Missense 7/16 - 1
2-225371710-G-A c.894C>T p.C298= Synonymous 7/16 - 1
2-225371712-A-ATTGTGT c.891_892insACACAA p.G297_C298insTQ InFrameInsertion 7/16 - 1
2-225371714-C-A c.890G>T p.G297V Missense 7/16 - 2
2-225371715-C-A c.889G>T p.G297C Missense 7/16 - 1
2-225371715-C-G c.889G>C p.G297R Missense 7/16 - 1
2-225371717-A-C c.887T>G p.L296R Missense 7/16 - 1
2-225371717-AG-CT c.886_887inv p.L296S Missense 7/16 - 1
2-225371718-G-T c.886C>A p.L296I Missense 7/16 - 2
2-225371719-G-A c.885C>T p.D295= Synonymous 7/16 - 1
2-225371720-T-G c.884A>C p.D295A Missense 7/16 - 1
2-225376032-G-A c.883+39C>T - IntronicSNV - 6/15 5
2-225376032-G-C c.883+39C>G - IntronicSNV - 6/15 6
2-225376034-G-A c.883+37C>T - IntronicSNV - 6/15 9
2-225376069-A-G c.883+2T>C - IntronicSNV - 6/15 3
2-225376072-T-C c.882A>G p.E294= Synonymous 6/16 - 1
2-225376083-C-A c.871G>T p.G291* Nonsense 6/16 - 1
2-225376083-C-G c.871G>C p.G291R Missense 6/16 - 1
2-225376083-C-T c.871G>A p.G291R Missense 6/16 - 2
2-225376084-A-T c.870T>A p.N290K Missense 6/16 - 1
2-225376088-T-A c.866A>T p.K289I Missense 6/16 - 1
2-225376089-T-G c.865A>C p.K289Q Missense 6/16 - 1
2-225376090-C-G c.864G>C p.L288F Missense 6/16 - 1
2-225376090-C-T c.864G>A p.L288= Synonymous 6/16 - 1
2-225376092-A-G c.862T>C p.L288= Synonymous 6/16 - 2
2-225376093-C-A c.861G>T p.M287I Missense 6/16 - 1
2-225376094-A-C c.860T>G p.M287R Missense 6/16 - 3
2-225376100-A-G c.854T>C p.V285A Missense 6/16 - 2
2-225376107-C-T c.847G>A p.G283R Missense 6/16 - 4
2-225376108-A-G c.846T>C p.S282= Synonymous 6/16 - 1
2-225376109-G-T c.845C>A p.S282Y Missense 6/16 - 2
2-225376111-A-G c.843T>C p.N281= Synonymous 6/16 - 1
2-225376114-C-A c.840G>T p.E280D Missense 6/16 - 1
2-225376114-C-G c.840G>C p.E280D Missense 6/16 - 1
2-225376115-T-C c.839A>G p.E280G Missense 6/16 - 1
2-225376116-C-A c.838G>T p.E280* Nonsense 6/16 - 1
2-225376117-C-T c.837G>A p.M279I Missense 6/16 - 1
2-225376119-T-C c.835A>G p.M279V Missense 6/16 - 1
2-225376120-T-C c.834A>G p.E278= Synonymous 6/16 - 2
2-225376121-TC-GA c.832_833inv p.E278S Missense 6/16 - 1
2-225376121-T-G c.833A>C p.E278A Missense 6/16 - 3
2-225376125-C-T c.829G>A p.V277I Missense 6/16 - 1
2-225376126-T-A c.828A>T p.I276= Synonymous 6/16 - 2
2-225376126-T-G c.828A>C p.I276= Synonymous 6/16 - 2
2-225376125-CTATAG-C c.824_828del p.T275Sfs*28 Frameshift 6/16 - 1
2-225376129-A-C c.825T>G p.T275= Synonymous 6/16 - 1
2-225376129-A-G c.825T>C p.T275= Synonymous 6/16 - 1
2-225376129-A-T c.825T>A p.T275= Synonymous 6/16 - 1
2-225376133-T-C c.821A>G p.K274R Missense 6/16 - 1
2-225376136-A-G c.818T>C p.M273T Missense 6/16 - 1
2-225376145-G-A c.809C>T p.S270F Missense 6/16 - 3
2-225376147-A-C c.807T>G p.I269M Missense 6/16 - 1
2-225376152-AG-A c.802del p.L268Sfs*6 Frameshift 6/16 - 1
2-225376152-G-T c.802C>A p.L268I Missense 6/16 - 1
2-225376155-C-A c.799G>T p.E267* Nonsense 6/16 - 1
2-225376155-C-G c.799G>C p.E267Q Missense 6/16 - 1
2-225376155-C-T c.799G>A p.E267K Missense 6/16 - 1
2-225376162-A-C c.792T>G p.V264= Synonymous 6/16 - 1
2-225376164-C-T c.790G>A p.V264I Missense 6/16 - 1
2-225376167-C-T c.787G>A p.V263M Missense 6/16 - 2
2-225376173-C-T c.781G>A p.V261I Missense 6/16 - 1
2-225376176-T-C c.778A>G p.I260V Missense 6/16 - 5
2-225376185-C-A c.769G>T p.E257* Nonsense 6/16 - 2
2-225376185-C-G c.769G>C p.E257Q Missense 6/16 - 1
2-225376186-C-A c.768G>T p.T256= Synonymous 6/16 - 2
2-225376186-C-T c.768G>A p.T256= Synonymous 6/16 - 2
2-225376187-G-A c.767C>T p.T256M Missense 6/16 - 1
2-225376190-G-C c.764C>G p.S255* Nonsense 6/16 - 2
2-225376190-G-T c.764C>A p.S255* Nonsense 6/16 - 2
2-225376193-T-G c.761A>C p.K254T Missense 6/16 - 1
2-225376197-C-T c.757G>A p.D253N Missense 6/16 - 1
2-225376214-C-A c.740G>T p.R247L Missense 6/16 - 1
2-225376214-C-T c.740G>A p.R247Q Missense 6/16 - 2
2-225376215-G-A c.739C>T p.R247* Nonsense 6/16 - 3
2-225376218-C-A c.736G>T p.E246* Nonsense 6/16 - 11
2-225376218-C-T c.736G>A p.E246K Missense 6/16 - 1
2-225376219-T-C c.735A>G p.I245M Missense 6/16 - 1
2-225376220-A-G c.734T>C p.I245T Missense 6/16 - 1
2-225376227-C-T c.727G>A p.E243K Missense 6/16 - 4
2-225376228-A-AT c.725dup p.N242Kfs*2 Frameshift 6/16 - 1
2-225376232-A-C c.722T>G p.I241S Missense 6/16 - 2
2-225376232-A-G c.722T>C p.I241T Missense 6/16 - 1
2-225376233-T-G c.721A>C p.I241L Missense 6/16 - 1
2-225376234-T-C c.720A>G p.R240= Synonymous 6/16 - 1
2-225376238-G-A c.716C>T p.A239V Missense 6/16 - 2
2-225376238-G-C c.716C>G p.A239G Missense 6/16 - 1
2-225376239-C-T c.715G>A p.A239T Missense 6/16 - 1
2-225376242-C-A c.712G>T p.E238* Nonsense 6/16 - 1
2-225376243-T-A c.711A>T p.V237= Synonymous 6/16 - 1
2-225376243-T-C c.711A>G p.V237= Synonymous 6/16 - 2
2-225376243-T-G c.711A>C p.V237= Synonymous 6/16 - 1
2-225376244-A-C c.710T>G p.V237G Missense 6/16 - 1
2-225376249-C-G c.705G>C p.K235N Missense 6/16 - 2
2-225376250-T-G c.704A>C p.K235T Missense 6/16 - 1
2-225376257-A-T c.697T>A p.Y233N Missense 6/16 - 1
2-225376262-G-A c.692C>T p.S231L Missense 6/16 - 1
2-225376270-A-G c.684T>C p.N228= Synonymous 6/16 - 1
2-225376271-T-C c.683A>G p.N228S Missense 6/16 - 1
2-225376274-T-C c.680A>G p.E227G Missense 6/16 - 1
2-225376276-T-A c.678A>T p.A226= Synonymous 6/16 - 3
2-225376276-T-C c.678A>G p.A226= Synonymous 6/16 - 4
2-225376276-T-G c.678A>C p.A226= Synonymous 6/16 - 3
2-225376279-TAA-CAT c.673_675delinsATG p.L225M Missense 6/16 - 1
2-225376286-T-C c.668A>G p.K223R Missense 6/16 - 1
2-225376286-T-G c.668A>C p.K223T Missense 6/16 - 3
2-225376289-T-C c.665A>G p.Q222R Missense 6/16 - 2
2-225376290-G-T c.664C>A p.Q222K Missense 6/16 - 1
2-225376304-C-T c.655-5G>A - IntronicSNV - 5/15 1
2-225378199-G-A c.654+42C>T - IntronicSNV - 5/15 1
2-225378199-G-T c.654+42C>A - IntronicSNV - 5/15 1
2-225378239-A-G c.654+2T>C - IntronicSNV - 5/15 1
2-225378242-T-TG c.652dup p.Q218Pfs*12 SpliceDonorInsertion 5/16 - 1
2-225378245-A-G c.650T>C p.F217S Missense 5/16 - 1
2-225378246-A-C c.649T>G p.F217V Missense 5/16 - 1
2-225378248-A-C c.647T>G p.F216C Missense 5/16 - 1
2-225378243-G-GA c.651dup p.Q218Sfs*12 Frameshift 5/16 - 2
2-225378254-G-C c.641C>G p.A214G Missense 5/16 - 1
2-225378255-C-T c.640G>A p.A214T Missense 5/16 - 1
2-225378257-G-T c.638C>A p.S213Y Missense 5/16 - 1
2-225378258-A-G c.637T>C p.S213P Missense 5/16 - 2
2-225378261-T-C c.634A>G p.M212V Missense 5/16 - 1
2-225378264-C-A c.631G>T p.E211* Nonsense 5/16 - 2
2-225378267-A-G c.628T>C p.L210= Synonymous 5/16 - 1
2-225378270-A-T c.625T>A p.F209I Missense 5/16 - 3
2-225378272-G-A c.623C>T p.P208L Missense 5/16 - 1
2-225378273-G-A c.622C>T p.P208S Missense 5/16 - 4
2-225378273-G-T c.622C>A p.P208T Missense 5/16 - 1
2-225378276-C-A c.619G>T p.A207S Missense 5/16 - 3
2-225378278-T-C c.617A>G p.E206G Missense 5/16 - 1
2-225378279-C-G c.616G>C p.E206Q Missense 5/16 - 3
2-225378279-C-T c.616G>A p.E206K Missense 5/16 - 1
2-225378281-A-C c.614T>G p.F205C Missense 5/16 - 1
2-225378282-A-C c.613T>G p.F205V Missense 5/16 - 1
2-225378284-ATCTT-A c.608_611del p.E203Vfs*22 Frameshift 5/16 - 1
2-225378285-C-A c.610G>T p.D204Y Missense 5/16 - 2
2-225378286-T-C c.609A>G p.E203= Synonymous 5/16 - 1
2-225378287-T-A c.608A>T p.E203V Missense 5/16 - 1
2-225378283-ATCT-A c.609_611del p.E203del InFrameDeletion 5/16 - 1
2-225378292-A-C c.603T>G p.Y201* Nonsense 5/16 - 1
2-225378292-A-T c.603T>A p.Y201* Nonsense 5/16 - 1
2-225378293-T-C c.602A>G p.Y201C Missense 5/16 - 1
2-225378295-G-A c.600C>T p.V200= Synonymous 5/16 - 2
2-225378295-G-C c.600C>G p.V200= Synonymous 5/16 - 1
2-225378295-G-T c.600C>A p.V200= Synonymous 5/16 - 1
2-225378296-A-G c.599T>C p.V200A Missense 5/16 - 1
2-225378298-T-A c.597A>T p.S199= Synonymous 5/16 - 1
2-225378298-T-C c.597A>G p.S199= Synonymous 5/16 - 1
2-225378298-T-G c.597A>C p.S199= Synonymous 5/16 - 1
2-225378299-G-C c.596C>G p.S199* Nonsense 5/16 - 1
2-225378299-G-T c.596C>A p.S199* Nonsense 5/16 - 1
2-225378301-TCTTC-T c.590_593del p.G197Dfs*28 Frameshift 5/16 - 2
2-225378306-C-A c.589G>T p.G197* Nonsense 5/16 - 1
2-225378309-C-A c.586G>T p.E196* Nonsense 5/16 - 1
2-225378309-C-T c.586G>A p.E196K Missense 5/16 - 2
2-225378310-G-A c.585C>T p.L195= Synonymous 5/16 - 4
2-225378310-G-C c.585C>G p.L195= Synonymous 5/16 - 3
2-225378310-G-T c.585C>A p.L195= Synonymous 5/16 - 2
2-225378313-A-C c.582T>G p.G194= Synonymous 5/16 - 1
2-225378313-A-G c.582T>C p.G194= Synonymous 5/16 - 1
2-225378313-A-T c.582T>A p.G194= Synonymous 5/16 - 1
2-225378314-C-T c.581G>A p.G194D Missense 5/16 - 4
2-225378315-C-G c.580G>C p.G194R Missense 5/16 - 2
2-225378317-AA-GG c.577_578delinsCC p.L193P Missense 5/16 - 1
2-225378329-CA-C c.566del p.M189Sfs*2 Frameshift 5/16 - 1
2-225378330-T-C c.565A>G p.M189V Missense 5/16 - 1
2-225378331-C-A c.564G>T p.Q188H Missense 5/16 - 1
2-225378331-C-G c.564G>C p.Q188H Missense 5/16 - 1
2-225378332-T-C c.563A>G p.Q188R Missense 5/16 - 1
2-225378334-G-A c.561C>T p.C187= Synonymous 5/16 - 1
2-225378335-C-T c.560G>A p.C187Y Missense 5/16 - 1
2-225378339-C-G c.556G>C p.A186P Missense 5/16 - 1
2-225378339-C-T c.556G>A p.A186T Missense 5/16 - 1
2-225378341-T-A c.554A>T p.N185I Missense 5/16 - 2
2-225378341-T-C c.554A>G p.N185S Missense 5/16 - 1
2-225378341-T-TA c.553_554insT p.N185Ifs*18 Frameshift 5/16 - 2
2-225378342-T-TGTTTTGGATATGGATTGCATATTGTAC c.552_553insGTACAATATGCAATCCATATCCAAAAC p.R184_N185insVQYAIHIQN InFrameInsertion 5/16 - 2
2-225378340-AT-A c.554del p.N185Mfs*6 Frameshift 5/16 - 1
2-225378344-C-G c.551G>C p.R184T Missense 5/16 - 1
2-225378344-C-T c.551G>A p.R184K Missense 5/16 - 1
2-225378344-CT-TG c.550_551delinsCA p.R184Q Missense 5/16 - 1
2-225378348-T-C c.547A>G p.I183V Missense 5/16 - 2
2-225378350-GC-AG c.544_545delinsCT p.A182L Missense 5/16 - 1
2-225378351-C-A c.544G>T p.A182S Missense 5/16 - 1
2-225378352-G-A c.543C>T p.G181= Synonymous 5/16 - 1
2-225378352-G-C c.543C>G p.G181= Synonymous 5/16 - 1
2-225378352-G-T c.543C>A p.G181= Synonymous 5/16 - 1
2-225378354-C-T c.541G>A p.G181S Missense 5/16 - 1
2-225378394-C-T c.540-39G>A - IntronicSNV - 4/15 1
2-225378501-C-T c.540-146G>A - IntronicSNV - 4/15 1
2-225379325-T-C c.539+4A>G - IntronicSNV - 4/15 1
2-225379325-T-G c.539+4A>C - IntronicSNV - 4/15 1
2-225379328-C-A c.539+1G>T - IntronicSNV - 4/15 2
2-225379327-A-AC c.539+1dup - SpliceDonorInsertion 4/16 - 1
2-225379332-TCTA-T c.533_535del p.V178del InFrameDeletion 4/16 - 1
2-225379336-C-A c.532G>T p.V178L Missense 4/16 - 1
2-225379337-G-A c.531C>T p.V177= Synonymous 4/16 - 1
2-225379337-G-T c.531C>A p.V177= Synonymous 4/16 - 1
2-225379341-T-C c.527A>G p.E176G Missense 4/16 - 1
2-225379343-TCC-GCT c.523_525delinsAGC p.G175S Missense 4/16 - 1
2-225379345-C-G c.523G>C p.G175R Missense 4/16 - 1
2-225379345-C-T c.523G>A p.G175R Missense 4/16 - 1
2-225379347-TTTCC-T c.518_521del p.R173Qfs*5 Frameshift 4/16 - 1
2-225379345-CT-C c.522del p.G175Efs*4 Frameshift 4/16 - 1
2-225379348-T-G c.520A>C p.K174Q Missense 4/16 - 1
2-225379350-C-A c.518G>T p.R173L Missense 4/16 - 1
2-225379350-CG-TA c.517_518delinsTA p.R173* Nonsense 4/16 - 1
2-225379350-C-T c.518G>A p.R173Q Missense 4/16 - 3
2-225379351-G-A c.517C>T p.R173W Missense 4/16 - 1
2-225379352-C-A c.516G>T p.E172D Missense 4/16 - 1
2-225379353-T-C c.515A>G p.E172G Missense 4/16 - 1
2-225379354-C-T c.514G>A p.E172K Missense 4/16 - 1
2-225379356-C-G c.512G>C p.R171T Missense 4/16 - 1
2-225379358-T-A c.510A>T p.A170= Synonymous 4/16 - 1
2-225379358-T-C c.510A>G p.A170= Synonymous 4/16 - 1
2-225379358-T-G c.510A>C p.A170= Synonymous 4/16 - 1
2-225379359-G-A c.509C>T p.A170V Missense 4/16 - 1
2-225379362-A-G c.506T>C p.I169T Missense 4/16 - 1
2-225379364-C-A c.504G>T p.M168I Missense 4/16 - 1
2-225379364-C-G c.504G>C p.M168I Missense 4/16 - 1
2-225379364-C-T c.504G>A p.M168I Missense 4/16 - 1
2-225379367-A-C c.501T>G p.D167E Missense 4/16 - 1
2-225379367-A-T c.501T>A p.D167E Missense 4/16 - 1
2-225379368-T-G c.500A>C p.D167A Missense 4/16 - 1
2-225379371-AA-GG c.496_497delinsCC p.L166P Missense 4/16 - 1
2-225379371-AAT-A c.495_496del p.L166Gfs*36 Frameshift 4/16 - 2
2-225379375-G-T c.493C>A p.L165I Missense 4/16 - 1
2-225379373-TAG-T c.493_494del p.L165Ifs*37 Frameshift 4/16 - 2
2-225379376-AG-CC c.491_492delinsGG p.T164R Missense 4/16 - 1
2-225379381-G-A c.487C>T p.Q163* Nonsense 4/16 - 1
2-225379382-CCG-ACA c.484_486delinsTGT p.R162C Missense 4/16 - 1
2-225379383-C-T c.485G>A p.R162Q Missense 4/16 - 2
2-225379384-G-A c.484C>T p.R162W Missense 4/16 - 2
2-225379385-T-C c.483A>G p.L161= Synonymous 4/16 - 1
2-225379385-T-G c.483A>C p.L161= Synonymous 4/16 - 1
2-225379390-G-A c.478C>T p.H160Y Missense 4/16 - 1
2-225379390-G-T c.478C>A p.H160N Missense 4/16 - 1
2-225379392-AT-A c.476del p.D159Vfs*10 Frameshift 4/16 - 1
2-225379395-CT-AG c.472_473inv p.R158L Missense 4/16 - 1
2-225379396-CTAATACACCCATAA-C c.459_472del p.Y154Gfs*44 Frameshift 4/16 - 1
2-225379396-T-C c.472A>G p.R158G Missense 4/16 - 1
2-225379397-TAATACACCCATAAC-T c.458_471del p.R153Qfs*45 Frameshift 4/16 - 1
2-225379397-AAT-A c.469_470del p.I157* Frameshift 4/16 - 1
2-225379399-T-A c.469A>T p.I157F Missense 4/16 - 1
2-225379400-A-G c.468T>C p.C156= Synonymous 4/16 - 1
2-225379401-C-A c.467G>T p.C156F Missense 4/16 - 2
2-225379404-C-T c.464G>A p.G155E Missense 4/16 - 4
2-225379406-A-C c.462T>G p.Y154* Nonsense 4/16 - 1
2-225379406-A-T c.462T>A p.Y154* Nonsense 4/16 - 1
2-225379408-A-G c.460T>C p.Y154H Missense 4/16 - 1
2-225379409-AC-TT c.458_459delinsAA p.R153Q Missense 4/16 - 1
2-225379410-C-A c.458G>T p.R153L Missense 4/16 - 1
2-225379410-C-T c.458G>A p.R153H Missense 4/16 - 4
2-225379411-G-A c.457C>T p.R153C Missense 4/16 - 1
2-225379414-C-T c.454G>A p.V152I Missense 4/16 - 2
2-225379416-A-G c.452T>C p.V151A Missense 4/16 - 1
2-225379417-C-T c.451G>A p.V151I Missense 4/16 - 1
2-225379419-T-C c.449A>G p.Q150R Missense 4/16 - 1
2-225379426-G-A c.442C>T p.R148* Nonsense 4/16 - 3
2-225379426-G-C c.442C>G p.R148G Missense 4/16 - 3
2-225379427-A-C c.441T>G p.F147L Missense 4/16 - 1
2-225379427-A-T c.441T>A p.F147L Missense 4/16 - 1
2-225379429-A-G c.439T>C p.F147L Missense 4/16 - 1
2-225379434-A-T c.434T>A p.I145N Missense 4/16 - 3
2-225379431-ATAAT-A c.433_436del p.I145Ffs*23 Frameshift 4/16 - 3
2-225379438-A-AT c.429dup p.L144Ifs*15 Frameshift 4/16 - 1
2-225379441-C-G c.427G>C p.G143R Missense 4/16 - 2
2-225379441-C-T c.427G>A p.G143R Missense 4/16 - 1
2-225379443-A-C c.425T>G p.L142W Missense 4/16 - 1
2-225379442-CAA-C c.424_425del p.L142Gfs*16 Frameshift 4/16 - 1
2-225379446-T-C c.422A>G p.N141S Missense 4/16 - 1
2-225379453-C-A c.415G>T p.V139F Missense 4/16 - 1
2-225379453-C-T c.415G>A p.V139I Missense 4/16 - 1
2-225379456-T-C c.412A>G p.N138D Missense 4/16 - 2
2-225379459-C-G c.409G>C p.E137Q Missense 4/16 - 1
2-225379459-C-T c.409G>A p.E137K Missense 4/16 - 1
2-225379471-G-A c.397C>T p.Q133* Nonsense 4/16 - 1
2-225379472-GTTGT-G c.393_396del p.Q132Kfs*12 Frameshift 4/16 - 1
2-225379472-T-G c.396A>C p.Q132H Missense 4/16 - 1
2-225379473-TTGTA-T c.392_395del p.V131Dfs*13 Frameshift 4/16 - 1
2-225379474-G-A c.394C>T p.Q132* Nonsense 4/16 - 3
2-225379479-T-C c.389A>G p.Y130C Missense 4/16 - 1
2-225379485-C-A c.383G>T p.R128L Missense 4/16 - 1
2-225379485-C-G c.383G>C p.R128P Missense 4/16 - 1
2-225379485-CG-GC c.382_383delinsGC p.R128A Missense 4/16 - 1
2-225379485-C-T c.383G>A p.R128H Missense 4/16 - 4
2-225379486-G-A c.382C>T p.R128C Missense 4/16 - 1
2-225379486-G-C c.382C>G p.R128G Missense 4/16 - 1
2-225379487-G-C c.381C>G p.D127E Missense 4/16 - 1
2-225379487-G-T c.381C>A p.D127E Missense 4/16 - 1
2-225379488-T-A c.380A>T p.D127V Missense 4/16 - 1
2-225379488-T-C c.380A>G p.D127G Missense 4/16 - 1
2-225379488-T-G c.380A>C p.D127A Missense 4/16 - 1
2-225379489-C-A c.379G>T p.D127Y Missense 4/16 - 1
2-225379489-C-T c.379G>A p.D127N Missense 4/16 - 1
2-225385542-C-T c.379-6053G>A - IntronicSNV - 3/15 1
2-225385858-T-C c.379-6369A>G - IntronicSNV - 3/15 1
2-225386080-T-C c.379-6591A>G - IntronicSNV - 3/15 1
2-225387522-G-A c.379-8033C>T - IntronicSNV - 3/15 2
2-225388884-C-T c.379-9395G>A - IntronicSNV - 3/15 1
2-225389031-T-C c.379-9542A>G - IntronicSNV - 3/15 1
2-225389282-C-G c.379-9793G>C - IntronicSNV - 3/15 1
2-225389282-C-T c.379-9793G>A - IntronicSNV - 3/15 1
2-225391296-C-A c.378+8949G>T - IntronicSNV - 3/15 5
2-225394925-C-T c.378+5320G>A - IntronicSNV - 3/15 1
2-225399437-C-G c.378+808G>C - IntronicSNV - 3/15 1
2-225400166-C-T c.378+79G>A - IntronicSNV - 3/15 1
2-225400185-CCTTCAA-C c.378+54_378+59del - IntronicDeletion - 3/15 3
2-225400199-T-C c.378+46A>G - IntronicSNV - 3/15 1
2-225400247-T-A c.376A>T p.M126L Missense 3/16 - 1
2-225400249-TA-GC c.373_374delinsGC p.Y125A Missense 3/16 - 1
2-225400251-C-A c.372G>T p.M124I Missense 3/16 - 2
2-225400251-C-G c.372G>C p.M124I Missense 3/16 - 2
2-225400251-C-T c.372G>A p.M124I Missense 3/16 - 2
2-225400258-A-G c.365T>C p.I122T Missense 3/16 - 1
2-225400258-ATGTC-A c.361_364del p.D121Yfs*2 Frameshift 3/16 - 1
2-225400260-G-C c.363C>G p.D121E Missense 3/16 - 1
2-225400260-G-T c.363C>A p.D121E Missense 3/16 - 1
2-225400264-C-A c.359G>T p.R120I Missense 3/16 - 1
2-225400264-C-T c.359G>A p.R120K Missense 3/16 - 2
2-225400264-CT-GG c.358_359delinsCC p.R120P Missense 3/16 - 1
2-225400265-T-A c.358A>T p.R120* Nonsense 3/16 - 1
2-225400270-A-G c.353T>C p.M118T Missense 3/16 - 1
2-225400276-A-G c.347T>C p.M116T Missense 3/16 - 1
2-225400277-T-C c.346A>G p.M116V Missense 3/16 - 1
2-225400280-C-T c.343G>A p.A115T Missense 3/16 - 4
2-225400280-GCT-G c.342_343del p.A115Yfs*5 Frameshift 3/16 - 1
2-225400282-G-C c.341C>G p.T114R Missense 3/16 - 1
2-225400282-G-T c.341C>A p.T114K Missense 3/16 - 1
2-225400286-G-A c.337C>T p.Q113* Nonsense 3/16 - 3
2-225400286-G-C c.337C>G p.Q113E Missense 3/16 - 2
2-225400288-T-A c.335A>T p.H112L Missense 3/16 - 1
2-225400288-T-C c.335A>G p.H112R Missense 3/16 - 1
2-225400298-A-C c.325T>G p.W109G Missense 3/16 - 1
2-225400301-C-T c.322G>A p.A108T Missense 3/16 - 1
2-225400304-G-C c.319C>G p.Q107E Missense 3/16 - 1
2-225400306-T-C c.317A>G p.N106S Missense 3/16 - 1
2-225400311-CG-GA c.311_312delinsTC p.T104I Missense 3/16 - 1
2-225400311-C-T c.312G>A p.T104= Synonymous 3/16 - 2
2-225400312-G-A c.311C>T p.T104M Missense 3/16 - 5
2-225400312-G-C c.311C>G p.T104R Missense 3/16 - 1
2-225400324-TTG-T c.297_298del p.N99Kfs*12 Frameshift 3/16 - 1
2-225400326-G-A c.297C>T p.N99= Synonymous 3/16 - 1
2-225400327-T-A c.296A>T p.N99I Missense 3/16 - 1
2-225400327-T-C c.296A>G p.N99S Missense 3/16 - 1
2-225400329-A-G c.294T>C p.N98= Synonymous 3/16 - 1
2-225400336-G-A c.287C>T p.S96L Missense 3/16 - 2
2-225400337-A-G c.286T>C p.S96P Missense 3/16 - 1
2-225400338-A-C c.285T>G p.N95K Missense 3/16 - 1
2-225400341-T-G c.282A>C p.L94= Synonymous 3/16 - 2
2-225400345-A-G c.278T>C p.V93A Missense 3/16 - 1
2-225400346-C-T c.277G>A p.V93I Missense 3/16 - 3
2-225400348-TC-AA c.274_275delinsTT p.D92F Missense 3/16 - 1
2-225400349-C-G c.274G>C p.D92H Missense 3/16 - 6
2-225400349-C-T c.274G>A p.D92N Missense 3/16 - 2
2-225400352-C-T c.271G>A p.E91K Missense 3/16 - 1
2-225400353-TCG-ACA c.268_270delinsTGT p.R90C Missense 3/16 - 1
2-225400354-C-T c.269G>A p.R90Q Missense 3/16 - 3
2-225400355-G-A c.268C>T p.R90* Nonsense 3/16 - 2
2-225405122-A-T c.265-4764T>A - IntronicSNV - 2/15 1
2-225418879-TA-T c.264+3496del - IntronicDeletion - 2/15 1
2-225419100-G-C c.264+3276C>G - IntronicSNV - 2/15 1
2-225422317-G-A c.264+59C>T - IntronicSNV - 2/15 1
2-225422374-A-G c.264+2T>C - IntronicSNV - 2/15 1
2-225422375-C-A c.264+1G>T - IntronicSNV - 2/15 1
2-225422384-T-A c.256A>T p.I86L Missense 2/16 - 1
2-225422384-T-G c.256A>C p.I86L Missense 2/16 - 1
2-225422387-AG-A c.253del p.L85Sfs*2 Frameshift 2/16 - 1
2-225422390-G-T c.250C>A p.H84N Missense 2/16 - 1
2-225422393-C-T c.247G>A p.E83K Missense 2/16 - 3
2-225422394-G-A c.246C>T p.T82= Synonymous 2/16 - 1
2-225422394-G-C c.246C>G p.T82= Synonymous 2/16 - 1
2-225422394-G-T c.246C>A p.T82= Synonymous 2/16 - 1
2-225422399-C-T c.241G>A p.V81I Missense 2/16 - 2
2-225422402-ACTTC-A c.235_238del p.E79Lfs*7 Frameshift 2/16 - 1
2-225422404-T-A c.236A>T p.E79V Missense 2/16 - 1
2-225422405-C-A c.235G>T p.E79* Nonsense 2/16 - 2
2-225422405-C-G c.235G>C p.E79Q Missense 2/16 - 2
2-225422406-TCT-ATG c.232_234delinsCAT p.R78H Missense 2/16 - 1
2-225422406-T-G c.234A>C p.R78S Missense 2/16 - 1
2-225422407-C-G c.233G>C p.R78T Missense 2/16 - 1
2-225422409-T-G c.231A>C p.L77= Synonymous 2/16 - 1
2-225422410-A-G c.230T>C p.L77P Missense 2/16 - 4
2-225422413-C-A c.227G>T p.G76V Missense 2/16 - 1
2-225422413-C-G c.227G>C p.G76A Missense 2/16 - 1
2-225422414-C-T c.226G>A p.G76R Missense 2/16 - 1
2-225422417-T-C c.223A>G p.T75A Missense 2/16 - 1
2-225422417-T-G c.223A>C p.T75P Missense 2/16 - 3
2-225422418-G-A c.222C>T p.Y74= Synonymous 2/16 - 1
2-225422420-A-G c.220T>C p.Y74H Missense 2/16 - 2
2-225422422-A-G c.218T>C p.L73P Missense 2/16 - 1
2-225422422-AG-TC c.217_218delinsGA p.L73D Missense 2/16 - 1
2-225422429-C-T c.211G>A p.E71K Missense 2/16 - 1
2-225422431-C-A c.209G>T p.G70V Missense 2/16 - 1
2-225422431-C-T c.209G>A p.G70E Missense 2/16 - 1
2-225422432-C-G c.208G>C p.G70R Missense 2/16 - 2
2-225422432-C-T c.208G>A p.G70R Missense 2/16 - 2
2-225422434-TG-AC c.205_206delinsGT p.H69V Missense 2/16 - 1
2-225422435-G-A c.205C>T p.H69Y Missense 2/16 - 1
2-225422437-T-A c.203A>T p.K68I Missense 2/16 - 2
2-225422440-T-C c.200A>G p.H67R Missense 2/16 - 1
2-225422441-G-A c.199C>T p.H67Y Missense 2/16 - 2
2-225422442-CA-C c.197del p.L66Cfs*12 Frameshift 2/16 - 3
2-225422447-C-A c.193G>T p.V65F Missense 2/16 - 1
2-225422447-C-T c.193G>A p.V65I Missense 2/16 - 1
2-225422450-T-C c.190A>G p.M64V Missense 2/16 - 1
2-225422451-T-C c.189A>G p.T63= Synonymous 2/16 - 1
2-225422455-T-A c.185A>T p.Y62F Missense 2/16 - 2
2-225422455-TA-CC c.184_185delinsGG p.Y62G Missense 2/16 - 1
2-225422455-TA-GC c.184_185delinsGC p.Y62A Missense 2/16 - 1
2-225422455-T-C c.185A>G p.Y62C Missense 2/16 - 1
2-225422456-A-G c.184T>C p.Y62H Missense 2/16 - 4
2-225422459-C-A c.181G>T p.A61S Missense 2/16 - 2
2-225422461-T-A c.179A>T p.N60I Missense 2/16 - 2
2-225422461-T-C c.179A>G p.N60S Missense 2/16 - 1
2-225422463-T-A c.177A>T p.R59S Missense 2/16 - 3
2-225422463-T-G c.177A>C p.R59S Missense 2/16 - 4
2-225422464-CT-GC c.175_176delinsGC p.R59A Missense 2/16 - 1
2-225422465-T-A c.175A>T p.R59* Nonsense 2/16 - 1
2-225422465-T-C c.175A>G p.R59G Missense 2/16 - 1
2-225422467-TA-GC c.172_173delinsGC p.Y58A Missense 2/16 - 1
2-225422467-T-C c.173A>G p.Y58C Missense 2/16 - 4
2-225422468-A-T c.172T>A p.Y58N Missense 2/16 - 1
2-225422470-A-T c.170T>A p.L57H Missense 2/16 - 1
2-225422472-C-A c.168G>T p.E56D Missense 2/16 - 2
2-225422472-C-G c.168G>C p.E56D Missense 2/16 - 1
2-225422475-C-T c.165G>A p.E55= Synonymous 2/16 - 1
2-225422476-T-G c.164A>C p.E55A Missense 2/16 - 1
2-225422477-C-G c.163G>C p.E55Q Missense 2/16 - 1
2-225422478-AAA-CTC c.160_162delinsGAG p.F54E Missense 2/16 - 1
2-225422478-A-T c.162T>A p.F54L Missense 2/16 - 2
2-225422479-AA-GC c.160_161delinsGC p.F54A Missense 2/16 - 1
2-225422481-A-C c.159T>G p.S53R Missense 2/16 - 3
2-225422481-A-T c.159T>A p.S53R Missense 2/16 - 3
2-225422483-T-G c.157A>C p.S53R Missense 2/16 - 3
2-225422482-C-T c.158G>A p.S53N Missense 2/16 - 3
2-225422482-CT-GC c.157_158delinsGC p.S53A Missense 2/16 - 1
2-225422485-AG-GC c.154_155delinsGC p.L52A Missense 2/16 - 1
2-225422485-A-AG c.154dup p.L52Pfs*2 Frameshift 2/16 - 1
2-225422486-G-A c.154C>T p.L52F Missense 2/16 - 5
2-225422486-G-C c.154C>G p.L52V Missense 2/16 - 5
2-225422488-C-T c.152G>A p.G51D Missense 2/16 - 1
2-225422490-A-G c.150T>C p.S50= Synonymous 2/16 - 1
2-225422491-C-A c.149G>T p.S50I Missense 2/16 - 1
2-225422491-C-T c.149G>A p.S50N Missense 2/16 - 2
2-225422495-T-C c.145A>G p.N49D Missense 2/16 - 3
2-225422497-T-C c.143A>G p.N48S Missense 2/16 - 4
2-225422498-T-A c.142A>T p.N48Y Missense 2/16 - 2
2-225422499-C-A c.141G>T p.K47N Missense 2/16 - 1
2-225422499-C-G c.141G>C p.K47N Missense 2/16 - 1
2-225422499-C-T c.141G>A p.K47= Synonymous 2/16 - 1
2-225422502-A-C c.138T>G p.R46= Synonymous 2/16 - 1
2-225422502-AC-TT c.137_138delinsAA p.R46Q Missense 2/16 - 1
2-225422503-AC-A c.137del p.R46Lfs*32 Frameshift 2/16 - 1
2-225422503-C-T c.137G>A p.R46H Missense 2/16 - 1
2-225422504-G-A c.136C>T p.R46C Missense 2/16 - 1
2-225422505-C-CT c.134dup p.R46Afs*2 Frameshift 2/16 - 1
2-225422506-T-A c.134A>T p.Q45L Missense 2/16 - 1
2-225422506-T-C c.134A>G p.Q45R Missense 2/16 - 2
2-225422507-G-A c.133C>T p.Q45* Nonsense 2/16 - 1
2-225422508-G-C c.132C>G p.I44M Missense 2/16 - 1
2-225422510-T-A c.130A>T p.I44F Missense 2/16 - 1
2-225422513-C-G c.127G>C p.E43Q Missense 2/16 - 1
2-225422513-C-T c.127G>A p.E43K Missense 2/16 - 4
2-225422514-T-A c.126A>T p.Q42H Missense 2/16 - 1
2-225422513-CT-C c.126del p.E43Kfs*35 Frameshift 2/16 - 1
2-225422515-T-C c.125A>G p.Q42R Missense 2/16 - 1
2-225422516-G-A c.124C>T p.Q42* Nonsense 2/16 - 3
2-225422516-G-C c.124C>G p.Q42E Missense 2/16 - 2
2-225422519-T-C c.121A>G p.I41V Missense 2/16 - 2
2-225422520-TGC-CCA c.118_120delinsTGG p.A40W Missense 2/16 - 1
2-225422521-G-T c.119C>A p.A40E Missense 2/16 - 1
2-225422523-A-C c.117T>G p.N39K Missense 2/16 - 1
2-225422523-A-T c.117T>A p.N39K Missense 2/16 - 1
2-225422527-T-A c.113A>T p.K38I Missense 2/16 - 1
2-225422527-TT-GC c.112_113delinsGC p.K38A Missense 2/16 - 1
2-225422523-A-AT c.116dup p.N39Kfs*9 Frameshift 2/16 - 2
2-225422523-AT-A c.116del p.N39Mfs*39 Frameshift 2/16 - 2
2-225422530-AG-GC c.109_110delinsGC p.L37A Missense 2/16 - 1
2-225422538-C-A c.102G>T p.W34C Missense 2/16 - 1
2-225422538-C-G c.102G>C p.W34C Missense 2/16 - 1
2-225422545-C-A c.95G>T p.S32I Missense 2/16 - 1
2-225422545-CT-GC c.94_95delinsGC p.S32A Missense 2/16 - 2
2-225422547-G-C c.93C>G p.N31K Missense 2/16 - 1
2-225422547-G-T c.93C>A p.N31K Missense 2/16 - 1
2-225422549-T-G c.91A>C p.N31H Missense 2/16 - 2
2-225422550-TAC-AAA c.88_90delinsTTT p.V30F Missense 2/16 - 1
2-225422551-A-C c.89T>G p.V30G Missense 2/16 - 1
2-225422552-C-A c.88G>T p.V30L Missense 2/16 - 1
2-225422552-C-G c.88G>C p.V30L Missense 2/16 - 1
2-225422553-A-C c.87T>G p.Y29* Nonsense 2/16 - 1
2-225422553-A-T c.87T>A p.Y29* Nonsense 2/16 - 1
2-225422555-A-G c.85T>C p.Y29H Missense 2/16 - 4
2-225422559-T-C c.81A>G p.E27= Synonymous 2/16 - 2
2-225422561-C-G c.79G>C p.E27Q Missense 2/16 - 1
2-225422561-C-T c.79G>A p.E27K Missense 2/16 - 1
2-225422563-T-C c.77A>G p.D26G Missense 2/16 - 1
2-225422564-C-A c.76G>T p.D26Y Missense 2/16 - 1
2-225422564-C-T c.76G>A p.D26N Missense 2/16 - 2
2-225422566-A-G c.74T>C p.M25T Missense 2/16 - 1
2-225422567-T-C c.73A>G p.M25V Missense 2/16 - 1
2-225422568-GG-CT c.71_72delinsAG p.T24K Missense 2/16 - 1
2-225422571-C-A c.69G>T p.M23I Missense 2/16 - 1
2-225422571-C-G c.69G>C p.M23I Missense 2/16 - 1
2-225422571-C-T c.69G>A p.M23I Missense 2/16 - 1
2-225422573-T-G c.67A>C p.M23L Missense 2/16 - 1
2-225422593-G-A c.67-20C>T - IntronicSNV - 1/15 1
2-225422596-G-A c.67-23C>T - IntronicSNV - 1/15 1
2-225422600-C-A c.67-27G>T - IntronicSNV - 1/15 2
2-225426527-C-T c.67-3954G>A - IntronicSNV - 1/15 2
2-225426531-C-A c.67-3958G>T - IntronicSNV - 1/15 1
2-225426531-C-G c.67-3958G>C - IntronicSNV - 1/15 1
2-225426531-C-T c.67-3958G>A - IntronicSNV - 1/15 1
2-225426542-G-A c.67-3969C>T - IntronicSNV - 1/15 1
2-225427996-T-C c.67-5423A>G - IntronicSNV - 1/15 2
2-225431679-C-A c.67-9106G>T - IntronicSNV - 1/15 2
2-225431679-C-G c.67-9106G>C - IntronicSNV - 1/15 2
2-225431679-C-T c.67-9106G>A - IntronicSNV - 1/15 2
2-225431758-G-A c.67-9185C>T - IntronicSNV - 1/15 1
2-225434223-C-T c.67-11650G>A - IntronicSNV - 1/15 1
2-225434256-C-A c.67-11683G>T - IntronicSNV - 1/15 2
2-225434256-C-G c.67-11683G>C - IntronicSNV - 1/15 2
2-225434368-C-T c.67-11795G>A - IntronicSNV - 1/15 1
2-225434445-A-G c.67-11872T>C - IntronicSNV - 1/15 17
2-225434527-G-T c.67-11954C>A - IntronicSNV - 1/15 3
2-225434630-T-A c.67-12057A>T - IntronicSNV - 1/15 1
2-225434763-A-G c.67-12190T>C - IntronicSNV - 1/15 1
2-225434763-A-T c.67-12190T>A - IntronicSNV - 1/15 1
2-225435356-C-A c.67-12783G>T - IntronicSNV - 1/15 1
2-225435356-C-T c.67-12783G>A - IntronicSNV - 1/15 1
2-225437923-C-T c.66+11738G>A - IntronicSNV - 1/15 1
2-225439844-A-G c.66+9817T>C - IntronicSNV - 1/15 2
2-225441404-AAGGG-A c.66+8254_66+8257del - IntronicDeletion - 1/15 1
2-225447380-CA-C c.66+2280del - IntronicDeletion - 1/15 1
2-225449631-C-G c.66+30G>C - IntronicSNV - 1/15 1
2-225449631-C-T c.66+30G>A - IntronicSNV - 1/15 1
2-225449657-TCACCGGAAAGGCC-T c.57_66+3del - SpliceDonorDeletion 1/16 1/15 1
2-225449661-CG-C c.65del p.P22Rfs*2 Frameshift 1/16 - 1
2-225449663-G-A c.64C>T p.P22S Missense 1/16 - 1
2-225449663-GA-G c.63del p.P22Rfs*2 Frameshift 1/16 - 1
2-225449664-A-C c.63T>G p.F21L Missense 1/16 - 1
2-225449664-A-T c.63T>A p.F21L Missense 1/16 - 1
2-225449666-A-C c.61T>G p.F21V Missense 1/16 - 2
2-225449666-A-G c.61T>C p.F21L Missense 1/16 - 1
2-225449667-G-A c.60C>T p.A20= Synonymous 1/16 - 5
2-225449667-G-C c.60C>G p.A20= Synonymous 1/16 - 1
2-225449667-G-T c.60C>A p.A20= Synonymous 1/16 - 2
2-225449668-G-T c.59C>A p.A20D Missense 1/16 - 2
2-225449669-C-CTCTT c.57_58insAAGA p.A20Kfs*9 Frameshift 1/16 - 1
2-225449669-C-T c.58G>A p.A20T Missense 1/16 - 1
2-225449673-G-C c.54C>G p.I18M Missense 1/16 - 1
2-225449674-A-C c.53T>G p.I18S Missense 1/16 - 1
2-225449674-A-T c.53T>A p.I18N Missense 1/16 - 2
2-225449675-T-TTTC c.51_52insGAA p.R17_I18insE InFrameInsertion 1/16 - 1
2-225449678-G-A c.49C>T p.R17W Missense 1/16 - 1
2-225449678-G-C c.49C>G p.R17G Missense 1/16 - 1
2-225449679-C-A c.48G>T p.M16I Missense 1/16 - 2
2-225449679-C-G c.48G>C p.M16I Missense 1/16 - 2
2-225449679-C-T c.48G>A p.M16I Missense 1/16 - 2
2-225449680-A-G c.47T>C p.M16T Missense 1/16 - 1
2-225449680-AT-GC c.46_47delinsGC p.M16A Missense 1/16 - 1
2-225449681-T-G c.46A>C p.M16L Missense 1/16 - 1
2-225449682-C-A c.45G>T p.K15N Missense 1/16 - 1
2-225449682-C-G c.45G>C p.K15N Missense 1/16 - 1
2-225449683-T-C c.44A>G p.K15R Missense 1/16 - 1
2-225449682-C-CT c.44dup p.M16Dfs*12 Frameshift 1/16 - 1
2-225449682-CT-C c.44del p.K15Rfs*9 Frameshift 1/16 - 1
2-225449685-GG-CA c.41_42delinsTG p.T14M Missense 1/16 - 1
2-225449690-C-G c.37G>C p.D13H Missense 1/16 - 5
2-225449690-C-T c.37G>A p.D13N Missense 1/16 - 6
2-225449691-C-A c.36G>T p.K12N Missense 1/16 - 2
2-225449691-C-G c.36G>C p.K12N Missense 1/16 - 2
2-225449692-T-A c.35A>T p.K12M Missense 1/16 - 1
2-225449693-T-C c.34A>G p.K12E Missense 1/16 - 1
2-225449694-CCG-ACA c.31_33delinsTGT p.R11C Missense 1/16 - 1
2-225449695-C-G c.32G>C p.R11P Missense 1/16 - 2
2-225449696-G-A c.31C>T p.R11W Missense 1/16 - 3
2-225449697-GC-CA c.29_30delinsTG p.S10M Missense 1/16 - 1
2-225449697-GC-CT c.29_30delinsAG p.S10K Missense 1/16 - 1
2-225449697-GCT-CTC c.28_30delinsGAG p.S10E Missense 1/16 - 4
2-225449698-C-A c.29G>T p.S10I Missense 1/16 - 2
2-225449698-CT-AA c.28_29delinsTT p.S10F Missense 1/16 - 1
2-225449698-CT-GC c.28_29delinsGC p.S10A Missense 1/16 - 12
2-225449698-CT-TA c.28_29delinsTA p.S10Y Missense 1/16 - 1
2-225449698-CT-TC c.28_29delinsGA p.S10D Missense 1/16 - 4
2-225449699-T-A c.28A>T p.S10C Missense 1/16 - 4
2-225449699-T-C c.28A>G p.S10G Missense 1/16 - 2
2-225449700-G-A c.27C>T p.G9= Synonymous 1/16 - 1
2-225449702-C-T c.25G>A p.G9S Missense 1/16 - 2
2-225449705-T-C c.22A>G p.T8A Missense 1/16 - 1
2-225449705-T-G c.22A>C p.T8P Missense 1/16 - 1
2-225449707-C-T c.20G>A p.G7D Missense 1/16 - 1
2-225449708-C-T c.19G>A p.G7S Missense 1/16 - 1
2-225449709-T-A c.18A>T p.K6N Missense 1/16 - 1
2-225449710-T-G c.17A>C p.K6T Missense 1/16 - 1
2-225449712-G-A c.15C>T p.S5= Synonymous 1/16 - 1
2-225449722-G-C c.5C>G p.S2W Missense 1/16 - 1
2-225449722-G-T c.5C>A p.S2* Nonsense 1/16 - 3
2-225449724-C-A c.3G>T p.M1? Missense 1/16 - 1
2-225449724-C-G c.3G>C p.M1? Missense 1/16 - 3
2-225449724-C-T c.3G>A p.M1? Missense 1/16 - 1
2-225449726-T-A c.1A>T p.M1? Missense 1/16 - 1
2-225449899-C-G c.-173G>C - 5-UTRSNV 1/16 - 1
2-225449927-G-C c.-201C>G - 5-UTRSNV 1/16 - 2
2-225449946-G-A c.-220C>T - 5-UTRSNV 1/16 - 1