MED16

MED16 mediator complex subunit 16

Annotation transcript: NM_005481.3

1077 unique variant annotations were identified in 449 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
19-868002-C-T c.*99G>A - 3-UTRSNV 16/16 - 3
19-868058-G-A c.*43C>T - 3-UTRSNV 16/16 - 1
19-868104-C-T c.2631G>A p.P877= Synonymous 16/16 - 4
19-868105-G-A c.2630C>T p.P877L Missense 16/16 - 5
19-868105-G-C c.2630C>G p.P877R Missense 16/16 - 4
19-868108-C-G c.2627G>C p.R876P Missense 16/16 - 4
19-868108-C-T c.2627G>A p.R876H Missense 16/16 - 1
19-868113-C-A c.2622G>T p.E874D Missense 16/16 - 1
19-868113-C-G c.2622G>C p.E874D Missense 16/16 - 1
19-868113-C-T c.2622G>A p.E874= Synonymous 16/16 - 1
19-868114-T-A c.2621A>T p.E874V Missense 16/16 - 1
19-868114-T-C c.2621A>G p.E874G Missense 16/16 - 1
19-868115-C-G c.2620G>C p.E874Q Missense 16/16 - 4
19-868115-C-T c.2620G>A p.E874K Missense 16/16 - 23
19-868128-G-A c.2607C>T p.D869= Synonymous 16/16 - 4
19-868132-A-G c.2603T>C p.L868P Missense 16/16 - 1
19-868134-G-A c.2601C>T p.S867= Synonymous 16/16 - 1
19-868134-G-C c.2601C>G p.S867= Synonymous 16/16 - 1
19-868134-G-T c.2601C>A p.S867= Synonymous 16/16 - 1
19-868135-G-A c.2600C>T p.S867F Missense 16/16 - 3
19-868135-G-C c.2600C>G p.S867C Missense 16/16 - 1
19-868143-G-A c.2592C>T p.T864= Synonymous 16/16 - 1
19-868150-G-A c.2585C>T p.P862L Missense 16/16 - 5
19-868151-G-A c.2584C>T p.P862S Missense 16/16 - 2
19-868157-G-A c.2578C>T p.H860Y Missense 16/16 - 3
19-868161-T-A c.2574A>T p.T858= Synonymous 16/16 - 2
19-868161-T-C c.2574A>G p.T858= Synonymous 16/16 - 1
19-868161-T-G c.2574A>C p.T858= Synonymous 16/16 - 1
19-868162-G-A c.2573C>T p.T858I Missense 16/16 - 1
19-868170-C-T c.2565G>A p.P855= Synonymous 16/16 - 1
19-868171-G-A c.2564C>T p.P855L Missense 16/16 - 1
19-868175-C-T c.2560G>A p.G854S Missense 16/16 - 2
19-868180-T-C c.2555A>G p.Q852R Missense 16/16 - 1
19-868194-G-A c.2541C>T p.A847= Synonymous 16/16 - 1
19-868194-G-C c.2541C>G p.A847= Synonymous 16/16 - 1
19-868194-G-T c.2541C>A p.A847= Synonymous 16/16 - 1
19-868216-G-A c.2519C>T p.T840I Missense 16/16 - 1
19-868220-C-T c.2515G>A p.V839M Missense 16/16 - 2
19-868227-G-A c.2508C>T p.D836= Synonymous 16/16 - 1
19-868231-G-C c.2504C>G p.P835R Missense 16/16 - 1
19-868232-G-A c.2503C>T p.P835S Missense 16/16 - 3
19-868234-C-T c.2501G>A p.G834E Missense 16/16 - 1
19-868236-A-C c.2499T>G p.R833= Synonymous 16/16 - 1
19-868236-A-G c.2499T>C p.R833= Synonymous 16/16 - 3
19-868236-A-T c.2499T>A p.R833= Synonymous 16/16 - 1
19-868249-G-A c.2486C>T p.A829V Missense 16/16 - 2
19-868251-C-A c.2484G>T p.L828= Synonymous 16/16 - 1
19-868251-C-G c.2484G>C p.L828= Synonymous 16/16 - 1
19-868251-C-T c.2484G>A p.L828= Synonymous 16/16 - 1
19-868417-G-A c.2482C>T p.L828= Synonymous 15/16 - 2
19-868325-C-G c.2484-74G>C - IntronicSNV - 15/15 1
19-868329-G-A c.2484-78C>T - IntronicSNV - 15/15 1
19-868340-G-A c.2483+76C>T - IntronicSNV - 15/15 4
19-868412-G-A c.2483+4C>T - IntronicSNV - 15/15 1
19-868421-G-A c.2478C>T p.N826= Synonymous 15/16 - 1
19-868422-T-C c.2477A>G p.N826S Missense 15/16 - 1
19-868426-T-C c.2473A>G p.K825E Missense 15/16 - 1
19-868430-C-T c.2469G>A p.W823* Nonsense 15/16 - 1
19-868431-C-T c.2468G>A p.W823* Nonsense 15/16 - 1
19-868438-G-A c.2461C>T p.Q821* Nonsense 15/16 - 1
19-868455-G-A c.2444C>T p.A815V Missense 15/16 - 1
19-868458-G-A c.2441C>T p.T814M Missense 15/16 - 3
19-868464-C-T c.2435G>A p.R812K Missense 15/16 - 1
19-868479-A-C c.2420T>G p.L807R Missense 15/16 - 1
19-868480-G-A c.2419C>T p.L807F Missense 15/16 - 1
19-868484-GG-CA c.2414_2415delinsTG p.T805M Missense 15/16 - 1
19-868491-C-T c.2408G>A p.C803Y Missense 15/16 - 1
19-868494-C-G c.2405G>C p.G802A Missense 15/16 - 1
19-868496-G-A c.2403C>T p.C801= Synonymous 15/16 - 1
19-868503-C-T c.2400-4G>A - IntronicSNV - 14/15 2
19-868507-G-T c.2400-8C>A - IntronicSNV - 14/15 2
19-868540-C-A c.2400-41G>T - IntronicSNV - 14/15 1
19-868540-C-G c.2400-41G>C - IntronicSNV - 14/15 1
19-868540-C-T c.2400-41G>A - IntronicSNV - 14/15 1
19-868551-T-C c.2400-52A>G - IntronicSNV - 14/15 4
19-868620-G-A c.2400-121C>T - IntronicSNV - 14/15 1
19-868620-G-C c.2400-121C>G - IntronicSNV - 14/15 1
19-868751-C-A c.2399+112G>T - IntronicSNV - 14/15 1
19-868751-C-T c.2399+112G>A - IntronicSNV - 14/15 1
19-868785-G-A c.2399+78C>T - IntronicSNV - 14/15 1
19-868844-G-A c.2399+19C>T - IntronicSNV - 14/15 1
19-868849-C-T c.2399+14G>A - IntronicSNV - 14/15 1
19-868850-G-A c.2399+13C>T - IntronicSNV - 14/15 1
19-868872-G-A c.2390C>T p.A797V Missense 14/16 - 1
19-868874-C-A c.2388G>T p.K796N Missense 14/16 - 1
19-868878-CA-GT c.2383_2384delinsAC p.C795T Missense 14/16 - 1
19-868882-C-A c.2380G>T p.E794* Nonsense 14/16 - 1
19-868882-C-G c.2380G>C p.E794Q Missense 14/16 - 1
19-868890-G-A c.2372C>T p.P791L Missense 14/16 - 1
19-868892-G-A c.2370C>T p.C790= Synonymous 14/16 - 1
19-868897-C-T c.2365G>A p.A789T Missense 14/16 - 1
19-868916-C-A c.2346G>T p.L782= Synonymous 14/16 - 1
19-868916-C-G c.2346G>C p.L782= Synonymous 14/16 - 1
19-868916-C-T c.2346G>A p.L782= Synonymous 14/16 - 1
19-868918-G-A c.2344C>T p.L782= Synonymous 14/16 - 1
19-868918-G-T c.2344C>A p.L782M Missense 14/16 - 1
19-868925-G-A c.2337C>T p.I779= Synonymous 14/16 - 1
19-868939-C-A c.2323G>T p.G775C Missense 14/16 - 1
19-868940-TG-AT c.2321_2322delinsAT p.P774H Missense 14/16 - 1
19-868952-G-A c.2316-6C>T - IntronicSNV - 13/15 1
19-869037-A-G c.2316-91T>C - IntronicSNV - 13/15 4
19-869198-C-T c.2316-252G>A - IntronicSNV - 13/15 1
19-870946-C-G c.2315+91G>C - IntronicSNV - 13/15 2
19-870946-C-T c.2315+91G>A - IntronicSNV - 13/15 1
19-871033-G-A c.2315+4C>T - IntronicSNV - 13/15 2
19-871041-C-T c.2311G>A p.A771T Missense 13/16 - 3
19-871042-G-A c.2310C>T p.L770= Synonymous 13/16 - 2
19-871042-G-C c.2310C>G p.L770= Synonymous 13/16 - 2
19-871042-G-T c.2310C>A p.L770= Synonymous 13/16 - 2
19-871044-G-A c.2308C>T p.L770F Missense 13/16 - 2
19-871044-G-C c.2308C>G p.L770V Missense 13/16 - 1
19-871048-G-A c.2304C>T p.D768= Synonymous 13/16 - 1
19-871056-G-A c.2296C>T p.Q766* Nonsense 13/16 - 1
19-871066-A-C c.2286T>G p.A762= Synonymous 13/16 - 1
19-871066-A-G c.2286T>C p.A762= Synonymous 13/16 - 1
19-871066-A-T c.2286T>A p.A762= Synonymous 13/16 - 1
19-871072-G-A c.2280C>T p.G760= Synonymous 13/16 - 1
19-871072-G-C c.2280C>G p.G760= Synonymous 13/16 - 1
19-871072-G-T c.2280C>A p.G760= Synonymous 13/16 - 1
19-871073-C-A c.2279G>T p.G760V Missense 13/16 - 1
19-871077-G-C c.2275C>G p.P759A Missense 13/16 - 1
19-871082-G-A c.2270C>T p.T757M Missense 13/16 - 1
19-871091-C-A c.2261G>T p.R754L Missense 13/16 - 1
19-871095-C-G c.2257G>C p.G753R Missense 13/16 - 3
19-871101-G-A c.2251C>T p.Q751* Nonsense 13/16 - 1
19-871106-C-T c.2246G>A p.R749H Missense 13/16 - 2
19-871107-G-A c.2245C>T p.R749C Missense 13/16 - 1
19-871108-A-C c.2244T>G p.L748= Synonymous 13/16 - 1
19-871112-G-A c.2240C>T p.P747L Missense 13/16 - 1
19-871115-T-C c.2237A>G p.Q746R Missense 13/16 - 1
19-871116-G-A c.2236C>T p.Q746* Nonsense 13/16 - 1
19-871123-C-T c.2229G>A p.Q743= Synonymous 13/16 - 2
19-871125-G-T c.2227C>A p.Q743K Missense 13/16 - 1
19-871129-GCG-TCA c.2221_2223delinsTGA p.R741* Nonsense 13/16 - 1
19-871131-G-A c.2221C>T p.R741C Missense 13/16 - 1
19-871135-A-C c.2217T>G p.V739= Synonymous 13/16 - 1
19-871135-A-G c.2217T>C p.V739= Synonymous 13/16 - 10
19-871135-A-T c.2217T>A p.V739= Synonymous 13/16 - 1
19-871137-C-G c.2215G>C p.V739L Missense 13/16 - 1
19-871144-G-A c.2208C>T p.D736= Synonymous 13/16 - 2
19-871146-C-T c.2206G>A p.D736N Missense 13/16 - 1
19-871167-G-T c.2185C>A p.L729M Missense 13/16 - 1
19-871168-G-A c.2184C>T p.S728= Synonymous 13/16 - 1
19-871169-C-A c.2183G>T p.S728I Missense 13/16 - 3
19-871169-C-T c.2183G>A p.S728N Missense 13/16 - 1
19-871187-C-G c.2165G>C p.S722T Missense 13/16 - 1
19-871189-TGGG-T c.2161_2163del p.P721del InFrameDeletion 13/16 - 1
19-871197-G-C c.2155C>G p.L719V Missense 13/16 - 1
19-871202-CA-GT c.2149_2150delinsAC p.C717T Missense 13/16 - 1
19-871206-C-T c.2146G>A p.E716K Missense 13/16 - 1
19-871207-A-G c.2145T>C p.D715= Synonymous 13/16 - 1
19-871208-T-A c.2144A>T p.D715V Missense 13/16 - 1
19-871213-C-G c.2139G>C p.L713= Synonymous 13/16 - 1
19-871221-C-G c.2131G>C p.E711Q Missense 13/16 - 1
19-871222-G-A c.2130C>T p.D710= Synonymous 13/16 - 10
19-871222-G-C c.2130C>G p.D710E Missense 13/16 - 2
19-871222-G-T c.2130C>A p.D710E Missense 13/16 - 2
19-871224-C-CCGCT c.2127_2128insAGCG p.D710Sfs*8 Frameshift 13/16 - 1
19-871226-G-A c.2126C>T p.P709L Missense 13/16 - 1
19-871243-C-A c.2109G>T p.E703D Missense 13/16 - 1
19-871243-C-G c.2109G>C p.E703D Missense 13/16 - 1
19-871248-C-T c.2104G>A p.D702N Missense 13/16 - 2
19-871251-G-A c.2101C>T p.R701C Missense 13/16 - 1
19-871447-A-G c.2099-194T>C - IntronicSNV - 12/15 8
19-871457-C-T c.2099-204G>A - IntronicSNV - 12/15 2
19-871604-G-A c.2098+322C>T - IntronicSNV - 12/15 1
19-871605-C-T c.2098+321G>A - IntronicSNV - 12/15 1
19-871608-G-A c.2098+318C>T - IntronicSNV - 12/15 1
19-871620-C-T c.2098+306G>A - IntronicSNV - 12/15 1
19-871724-G-A c.2098+202C>T - IntronicSNV - 12/15 5
19-871782-G-A c.2098+144C>T - IntronicSNV - 12/15 1
19-871786-A-G c.2098+140T>C - IntronicSNV - 12/15 1
19-871852-A-G c.2098+74T>C - IntronicSNV - 12/15 1
19-871882-A-G c.2098+44T>C - IntronicSNV - 12/15 1
19-871888-G-C c.2098+38C>G - IntronicSNV - 12/15 1
19-871889-A-G c.2098+37T>C - IntronicSNV - 12/15 2
19-871891-C-G c.2098+35G>C - IntronicSNV - 12/15 1
19-871898-A-C c.2098+28T>G - IntronicSNV - 12/15 1
19-871927-G-C c.2097C>G p.C699W Missense 12/16 - 1
19-871928-C-A c.2096G>T p.C699F Missense 12/16 - 1
19-871929-A-C c.2095T>G p.C699G Missense 12/16 - 1
19-871938-G-T c.2086C>A p.L696I Missense 12/16 - 1
19-871940-T-C c.2084A>G p.K695R Missense 12/16 - 1
19-871940-T-G c.2084A>C p.K695T Missense 12/16 - 2
19-871942-G-A c.2082C>T p.T694= Synonymous 12/16 - 1
19-871942-G-C c.2082C>G p.T694= Synonymous 12/16 - 1
19-871942-G-T c.2082C>A p.T694= Synonymous 12/16 - 1
19-871946-A-G c.2078T>C p.L693P Missense 12/16 - 1
19-871949-AG-GA c.2074_2075delinsTC p.L692S Missense 12/16 - 1
19-871958-A-G c.2066T>C p.L689P Missense 12/16 - 1
19-871970-C-G c.2054G>C p.S685T Missense 12/16 - 1
19-871984-C-T c.2040G>A p.S680= Synonymous 12/16 - 1
19-871987-G-A c.2037C>T p.T679= Synonymous 12/16 - 9
19-871987-G-C c.2037C>G p.T679= Synonymous 12/16 - 6
19-871987-G-T c.2037C>A p.T679= Synonymous 12/16 - 1
19-871993-CG-GA c.2030_2031delinsTC p.T677I Missense 12/16 - 1
19-871994-G-A c.2030C>T p.T677M Missense 12/16 - 1
19-871996-A-G c.2028T>C p.Y676= Synonymous 12/16 - 1
19-871999-C-A c.2025G>T p.V675= Synonymous 12/16 - 1
19-871999-C-G c.2025G>C p.V675= Synonymous 12/16 - 1
19-871999-C-T c.2025G>A p.V675= Synonymous 12/16 - 2
19-872001-C-T c.2023G>A p.V675M Missense 12/16 - 1
19-872002-G-A c.2022C>T p.P674= Synonymous 12/16 - 1
19-872005-CAG-AAA c.2017_2019delinsTTT p.L673F Missense 12/16 - 1
19-872007-G-A c.2017C>T p.L673= Synonymous 12/16 - 2
19-872008-G-A c.2016C>T p.C672= Synonymous 12/16 - 1
19-872020-C-A c.2004G>T p.L668= Synonymous 12/16 - 1
19-872020-C-G c.2004G>C p.L668= Synonymous 12/16 - 1
19-872020-C-T c.2004G>A p.L668= Synonymous 12/16 - 3
19-872022-G-A c.2002C>T p.L668= Synonymous 12/16 - 1
19-872021-A-G c.2003T>C p.L668P Missense 12/16 - 1
19-872028-C-G c.1996G>C p.G666R Missense 12/16 - 1
19-872029-C-A c.1995G>T p.W665C Missense 12/16 - 1
19-872029-C-G c.1995G>C p.W665C Missense 12/16 - 1
19-872032-G-A c.1992C>T p.I664= Synonymous 12/16 - 1
19-872032-G-C c.1992C>G p.I664M Missense 12/16 - 1
19-872032-G-T c.1992C>A p.I664= Synonymous 12/16 - 1
19-872034-T-C c.1990A>G p.I664V Missense 12/16 - 1
19-872040-T-C c.1984A>G p.I662V Missense 12/16 - 1
19-872043-C-G c.1981G>C p.V661L Missense 12/16 - 1
19-872045-A-G c.1979T>C p.V660A Missense 12/16 - 1
19-872046-CCAT-C c.1975_1977del p.M659del InFrameDeletion 12/16 - 1
19-872050-C-T c.1974G>A p.L658= Synonymous 12/16 - 2
19-872052-A-G c.1972T>C p.L658= Synonymous 12/16 - 2
19-872055-C-T c.1969G>A p.E657K Missense 12/16 - 2
19-872057-C-T c.1967G>A p.R656Q Missense 12/16 - 1
19-872056-C-A c.1968G>T p.R656= Synonymous 12/16 - 1
19-872056-C-G c.1968G>C p.R656= Synonymous 12/16 - 1
19-872056-C-T c.1968G>A p.R656= Synonymous 12/16 - 1
19-872058-G-A c.1966C>T p.R656W Missense 12/16 - 3
19-872058-G-T c.1966C>A p.R656= Synonymous 12/16 - 2
19-872059-A-G c.1965T>C p.L655= Synonymous 12/16 - 1
19-872062-C-A c.1962G>T p.M654I Missense 12/16 - 2
19-872078-C-T c.1946G>A p.G649D Missense 12/16 - 3
19-872080-G-A c.1944C>T p.D648= Synonymous 12/16 - 1
19-872083-C-A c.1941G>T p.R647= Synonymous 12/16 - 3
19-872084-C-T c.1940G>A p.R647Q Missense 12/16 - 1
19-872083-C-G c.1941G>C p.R647= Synonymous 12/16 - 1
19-872083-C-T c.1941G>A p.R647= Synonymous 12/16 - 1
19-872085-G-A c.1939C>T p.R647W Missense 12/16 - 1
19-872085-G-T c.1939C>A p.R647= Synonymous 12/16 - 1
19-872086-C-A c.1938G>T p.L646= Synonymous 12/16 - 1
19-872086-C-G c.1938G>C p.L646= Synonymous 12/16 - 1
19-872086-C-T c.1938G>A p.L646= Synonymous 12/16 - 1
19-872088-G-A c.1936C>T p.L646= Synonymous 12/16 - 2
19-872089-A-G c.1935T>C p.F645= Synonymous 12/16 - 11
19-872090-A-T c.1934T>A p.F645Y Missense 12/16 - 1
19-872107-C-T c.1917G>A p.L639= Synonymous 12/16 - 1
19-872108-A-G c.1916T>C p.L639P Missense 12/16 - 1
19-872110-C-A c.1914G>T p.L638= Synonymous 12/16 - 1
19-872114-G-A c.1910C>T p.S637F Missense 12/16 - 3
19-872114-GA-TT c.1909_1910delinsAA p.S637N Missense 12/16 - 1
19-872118-C-T c.1906G>A p.G636S Missense 12/16 - 2
19-872255-G-A c.1906-137C>T - IntronicSNV - 11/15 3
19-872614-A-C c.1906-496T>G - IntronicSNV - 11/15 1
19-872614-A-G c.1906-496T>C - IntronicSNV - 11/15 1
19-872802-A-C c.1905+647T>G - IntronicSNV - 11/15 1
19-872802-A-G c.1905+647T>C - IntronicSNV - 11/15 1
19-872847-G-A c.1905+602C>T - IntronicSNV - 11/15 1
19-872877-G-A c.1905+572C>T - IntronicSNV - 11/15 1
19-872987-G-A c.1905+462C>T - IntronicSNV - 11/15 1
19-872987-G-C c.1905+462C>G - IntronicSNV - 11/15 1
19-873258-C-G c.1905+191G>C - IntronicSNV - 11/15 1
19-873306-T-C c.1905+143A>G - IntronicSNV - 11/15 1
19-873323-GTAGGGGCGGGACTCCAAC-G c.1905+108_1905+125del - IntronicDeletion - 11/15 1
19-873341-C-G c.1905+108G>C - IntronicSNV - 11/15 2
19-873450-T-C c.1904A>G p.Q635R Missense 11/16 - 1
19-873453-T-C c.1901A>G p.N634S Missense 11/16 - 1
19-873460-G-C c.1894C>G p.L632V Missense 11/16 - 1
19-873461-G-A c.1893C>T p.S631= Synonymous 11/16 - 2
19-873482-G-A c.1872C>T p.F624= Synonymous 11/16 - 3
19-873486-T-A c.1868A>T p.D623V Missense 11/16 - 2
19-873487-C-T c.1867G>A p.D623N Missense 11/16 - 2
19-873488-G-A c.1866C>T p.G622= Synonymous 11/16 - 2
19-873488-G-C c.1866C>G p.G622= Synonymous 11/16 - 2
19-873488-G-T c.1866C>A p.G622= Synonymous 11/16 - 2
19-873489-C-T c.1865G>A p.G622D Missense 11/16 - 1
19-873494-C-A c.1860G>T p.W620C Missense 11/16 - 1
19-873494-C-G c.1860G>C p.W620C Missense 11/16 - 2
19-873495-C-A c.1859G>T p.W620L Missense 11/16 - 1
19-873506-C-T c.1848G>A p.Q616= Synonymous 11/16 - 3
19-873511-G-A c.1843C>T p.Q615* Nonsense 11/16 - 1
19-873515-C-A c.1839G>T p.A613= Synonymous 11/16 - 1
19-873515-C-G c.1839G>C p.A613= Synonymous 11/16 - 1
19-873515-C-T c.1839G>A p.A613= Synonymous 11/16 - 1
19-873530-C-A c.1824G>T p.M608I Missense 11/16 - 1
19-873530-C-T c.1824G>A p.M608I Missense 11/16 - 1
19-873532-T-G c.1822A>C p.M608L Missense 11/16 - 1
19-873537-A-C c.1817T>G p.L606R Missense 11/16 - 2
19-873541-C-A c.1813G>T p.V605L Missense 11/16 - 1
19-873541-C-G c.1813G>C p.V605L Missense 11/16 - 1
19-873545-T-A c.1809A>T p.E603D Missense 11/16 - 1
19-873545-T-G c.1809A>C p.E603D Missense 11/16 - 1
19-873548-C-A c.1806G>T p.E602D Missense 11/16 - 1
19-873548-C-G c.1806G>C p.E602D Missense 11/16 - 1
19-873551-C-T c.1803G>A p.T601= Synonymous 11/16 - 1
19-873553-T-C c.1801A>G p.T601A Missense 11/16 - 1
19-873554-C-A c.1800G>T p.K600N Missense 11/16 - 1
19-873554-C-G c.1800G>C p.K600N Missense 11/16 - 2
19-873566-C-T c.1788G>A p.M596I Missense 11/16 - 1
19-873569-G-A c.1785C>T p.V595= Synonymous 11/16 - 2
19-873569-G-C c.1785C>G p.V595= Synonymous 11/16 - 1
19-873569-G-T c.1785C>A p.V595= Synonymous 11/16 - 1
19-873577-C-G c.1777G>C p.D593H Missense 11/16 - 2
19-873578-A-C c.1776T>G p.I592M Missense 11/16 - 1
19-873579-A-G c.1775T>C p.I592T Missense 11/16 - 2
19-873743-G-A c.1772-161C>T - IntronicSNV - 10/15 3
19-873743-G-C c.1772-161C>G - IntronicSNV - 10/15 3
19-873743-G-T c.1772-161C>A - IntronicSNV - 10/15 3
19-875228-G-A c.1771+16C>T - IntronicSNV - 10/15 1
19-875244-C-T c.1771G>A p.D591N Missense 10/16 - 2
19-875243-CCGA-C c.1769_1771del p.V590del SpliceDonorDeletion 10/16 - 1
19-875247-C-A c.1768G>T p.V590F Missense 10/16 - 1
19-875247-C-T c.1768G>A p.V590I Missense 10/16 - 1
19-875250-C-T c.1765G>A p.D589N Missense 10/16 - 1
19-875251-G-A c.1764C>T p.T588= Synonymous 10/16 - 1
19-875251-G-C c.1764C>G p.T588= Synonymous 10/16 - 1
19-875251-G-T c.1764C>A p.T588= Synonymous 10/16 - 1
19-875252-G-A c.1763C>T p.T588I Missense 10/16 - 5
19-875257-C-G c.1758G>C p.K586N Missense 10/16 - 1
19-875263-G-A c.1752C>T p.C584= Synonymous 10/16 - 1
19-875264-C-T c.1751G>A p.C584Y Missense 10/16 - 6
19-875271-C-T c.1744G>A p.E582K Missense 10/16 - 1
19-875275-TCAGCC-T c.1736_1740del p.R579Hfs*13 Frameshift 10/16 - 1
19-875278-CC-AT c.1736_1737delinsAT p.R579H Missense 10/16 - 1
19-875280-G-A c.1735C>T p.R579W Missense 10/16 - 1
19-875282-T-C c.1733A>G p.D578G Missense 10/16 - 1
19-875283-C-A c.1732G>T p.D578Y Missense 10/16 - 1
19-875283-C-T c.1732G>A p.D578N Missense 10/16 - 1
19-875286-C-T c.1729G>A p.G577S Missense 10/16 - 2
19-875288-GGGGCTCT-G c.1721_1727del p.K574Tfs*5 Frameshift 10/16 - 1
19-875291-C-A c.1724G>T p.S575I Missense 10/16 - 1
19-875292-T-TA c.1722_1723insT p.S575* Nonsense 10/16 - 1
19-875294-CTT-C c.1720_1721del p.K574Efs*19 Frameshift 10/16 - 1
19-875295-T-TA c.1719_1720insT p.K574* Nonsense 10/16 - 3
19-875295-T-TAAAAAA c.1719_1720insTTTTTT p.D573_K574insFF InFrameInsertion 10/16 - 2
19-875295-T-TTAAAAAA c.1719_1720insTTTTTTA p.K574Ffs*22 Frameshift 10/16 - 3
19-875298-C-A c.1717G>T p.D573Y Missense 10/16 - 2
19-875301-G-A c.1714C>T p.P572S Missense 10/16 - 5
19-875311-A-G c.1704T>C p.F568= Synonymous 10/16 - 2
19-875313-A-AG c.1701dup p.F568Lfs*6 Frameshift 10/16 - 1
19-875314-G-C c.1701C>G p.H567Q Missense 10/16 - 1
19-875318-G-T c.1697C>A p.P566H Missense 10/16 - 2
19-875321-C-A c.1694G>T p.R565L Missense 10/16 - 1
19-875321-C-T c.1694G>A p.R565H Missense 10/16 - 1
19-875322-G-A c.1693C>T p.R565C Missense 10/16 - 2
19-875329-C-A c.1686G>T p.S562= Synonymous 10/16 - 1
19-875329-C-G c.1686G>C p.S562= Synonymous 10/16 - 1
19-875329-C-T c.1686G>A p.S562= Synonymous 10/16 - 2
19-875330-G-A c.1685C>T p.S562L Missense 10/16 - 3
19-875332-C-A c.1683G>T p.K561N Missense 10/16 - 1
19-875339-G-A c.1676C>T p.T559I Missense 10/16 - 3
19-875346-T-C c.1669A>G p.S557G Missense 10/16 - 1
19-875362-G-C c.1653C>G p.L551= Synonymous 10/16 - 2
19-875364-G-C c.1651C>G p.L551V Missense 10/16 - 1
19-875367-T-C c.1648A>G p.K550E Missense 10/16 - 1
19-875371-G-A c.1644C>T p.H548= Synonymous 10/16 - 1
19-875373-G-A c.1642C>T p.H548Y Missense 10/16 - 2
19-875376-A-T c.1639T>A p.Y547N Missense 10/16 - 1
19-875380-G-A c.1635C>T p.C545= Synonymous 10/16 - 2
19-875383-C-A c.1632G>T p.V544= Synonymous 10/16 - 1
19-875383-C-T c.1632G>A p.V544= Synonymous 10/16 - 1
19-875385-C-T c.1630G>A p.V544M Missense 10/16 - 1
19-875388-G-A c.1627C>T p.R543C Missense 10/16 - 1
19-875389-G-A c.1626C>T p.T542= Synonymous 10/16 - 7
19-875389-G-T c.1626C>A p.T542= Synonymous 10/16 - 4
19-875395-C-A c.1620G>T p.T540= Synonymous 10/16 - 1
19-875395-C-G c.1620G>C p.T540= Synonymous 10/16 - 1
19-875395-C-T c.1620G>A p.T540= Synonymous 10/16 - 1
19-875396-G-A c.1619C>T p.T540M Missense 10/16 - 4
19-875396-G-T c.1619C>A p.T540K Missense 10/16 - 1
19-875398-G-A c.1617C>T p.C539= Synonymous 10/16 - 1
19-875402-G-A c.1613C>T p.P538L Missense 10/16 - 1
19-875404-C-A c.1611G>T p.S537= Synonymous 10/16 - 1
19-875404-C-G c.1611G>C p.S537= Synonymous 10/16 - 1
19-875404-C-T c.1611G>A p.S537= Synonymous 10/16 - 1
19-875405-G-A c.1610C>T p.S537L Missense 10/16 - 1
19-875411-T-C c.1604A>G p.K535R Missense 10/16 - 2
19-875413-G-A c.1602C>T p.C534= Synonymous 10/16 - 1
19-875415-A-C c.1600T>G p.C534G Missense 10/16 - 1
19-875420-G-A c.1595C>T p.S532L Missense 10/16 - 3
19-875422-G-A c.1593C>T p.A531= Synonymous 10/16 - 1
19-875423-G-A c.1592C>T p.A531V Missense 10/16 - 1
19-875429-A-G c.1586T>C p.M529T Missense 10/16 - 1
19-875432-G-T c.1583C>A p.A528D Missense 10/16 - 1
19-875437-G-A c.1578C>T p.I526= Synonymous 10/16 - 2
19-875441-C-T c.1574G>A p.R525Q Missense 10/16 - 1
19-875442-G-A c.1573C>T p.R525W Missense 10/16 - 1
19-875446-G-A c.1569C>T p.S523= Synonymous 10/16 - 3
19-875446-G-C c.1569C>G p.S523= Synonymous 10/16 - 1
19-875446-G-T c.1569C>A p.S523= Synonymous 10/16 - 1
19-875447-G-A c.1568C>T p.S523F Missense 10/16 - 7
19-875454-C-G c.1561G>C p.V521L Missense 10/16 - 1
19-875559-C-T c.1561-105G>A - IntronicSNV - 9/15 1
19-876604-C-T c.1560+370G>A - IntronicSNV - 9/15 2
19-876627-C-T c.1560+347G>A - IntronicSNV - 9/15 1
19-876838-A-G c.1560+136T>C - IntronicSNV - 9/15 1
19-876878-G-A c.1560+96C>T - IntronicSNV - 9/15 1
19-876882-C-A c.1560+92G>T - IntronicSNV - 9/15 2
19-876882-C-G c.1560+92G>C - IntronicSNV - 9/15 1
19-876897-G-C c.1560+77C>G - IntronicSNV - 9/15 1
19-876897-G-GC c.1560+76dup - IntronicInsertion - 9/15 1
19-876910-C-T c.1560+64G>A - IntronicSNV - 9/15 1
19-876911-G-A c.1560+63C>T - IntronicSNV - 9/15 3
19-876911-G-C c.1560+63C>G - IntronicSNV - 9/15 1
19-876910-CG-C c.1560+63del - IntronicDeletion - 9/15 1
19-876914-GC-G c.1560+59del - IntronicDeletion - 9/15 1
19-876929-A-G c.1560+45T>C - IntronicSNV - 9/15 1
19-876929-CA-C c.1560+45del - IntronicDeletion - 9/15 2
19-876933-C-G c.1560+41G>C - IntronicSNV - 9/15 1
19-876932-GC-G c.1560+41del - IntronicDeletion - 9/15 1
19-876973-C-G c.1560+1G>C - IntronicSNV - 9/15 1
19-876974-C-A c.1560G>T p.Q520H Missense 9/16 - 1
19-876978-T-C c.1556A>G p.Q519R Missense 9/16 - 2
19-876979-G-A c.1555C>T p.Q519* Nonsense 9/16 - 1
19-876982-G-A c.1552C>T p.L518= Synonymous 9/16 - 1
19-876985-C-T c.1549G>A p.A517T Missense 9/16 - 1
19-876997-G-A c.1537C>T p.R513C Missense 9/16 - 4
19-876998-C-A c.1536G>T p.T512= Synonymous 9/16 - 1
19-876998-C-G c.1536G>C p.T512= Synonymous 9/16 - 1
19-876998-C-T c.1536G>A p.T512= Synonymous 9/16 - 1
19-877004-C-A c.1530G>T p.E510D Missense 9/16 - 1
19-877010-G-A c.1524C>T p.H508= Synonymous 9/16 - 1
19-877011-T-G c.1523A>C p.H508P Missense 9/16 - 1
19-877013-C-A c.1521G>T p.L507= Synonymous 9/16 - 2
19-877024-C-T c.1510G>A p.V504M Missense 9/16 - 1
19-877034-T-A c.1500A>T p.V500= Synonymous 9/16 - 1
19-877034-TAC-CAT c.1498_1500delinsATG p.V500M Missense 9/16 - 1
19-877034-T-C c.1500A>G p.V500= Synonymous 9/16 - 1
19-877034-T-G c.1500A>C p.V500= Synonymous 9/16 - 1
19-877041-C-A c.1493G>T p.S498I Missense 9/16 - 4
19-877043-G-A c.1491C>T p.P497= Synonymous 9/16 - 1
19-877044-G-A c.1490C>T p.P497L Missense 9/16 - 1
19-877046-C-A c.1488G>T p.Q496H Missense 9/16 - 3
19-877046-C-G c.1488G>C p.Q496H Missense 9/16 - 2
19-877051-C-T c.1483G>A p.V495M Missense 9/16 - 1
19-877064-G-C c.1470C>G p.D490E Missense 9/16 - 1
19-877064-G-T c.1470C>A p.D490E Missense 9/16 - 1
19-877065-T-G c.1469A>C p.D490A Missense 9/16 - 1
19-877075-C-A c.1459G>T p.D487Y Missense 9/16 - 1
19-877075-C-T c.1459G>A p.D487N Missense 9/16 - 1
19-877079-G-A c.1455C>T p.G485= Synonymous 9/16 - 2
19-877079-G-C c.1455C>G p.G485= Synonymous 9/16 - 2
19-877079-GCC-CCA c.1453_1455delinsTGG p.G485W Missense 9/16 - 1
19-877079-GC-CT c.1454_1455delinsAG p.G485E Missense 9/16 - 1
19-877079-G-T c.1455C>A p.G485= Synonymous 9/16 - 2
19-877081-C-T c.1453G>A p.G485S Missense 9/16 - 1
19-877082-G-A c.1452C>T p.T484= Synonymous 9/16 - 1
19-877082-G-C c.1452C>G p.T484= Synonymous 9/16 - 1
19-877082-G-T c.1452C>A p.T484= Synonymous 9/16 - 1
19-877092-C-T c.1442G>A p.C481Y Missense 9/16 - 1
19-877095-T-C c.1439A>G p.Y480C Missense 9/16 - 1
19-877106-G-C c.1428C>G p.F476L Missense 9/16 - 1
19-877109-G-A c.1425C>T p.L475= Synonymous 9/16 - 1
19-877109-G-C c.1425C>G p.L475= Synonymous 9/16 - 1
19-877109-G-T c.1425C>A p.L475= Synonymous 9/16 - 1
19-877111-G-A c.1423C>T p.L475F Missense 9/16 - 1
19-877121-C-A c.1413G>T p.L471= Synonymous 9/16 - 1
19-877121-C-G c.1413G>C p.L471= Synonymous 9/16 - 1
19-877121-C-T c.1413G>A p.L471= Synonymous 9/16 - 1
19-877123-G-A c.1411C>T p.L471= Synonymous 9/16 - 1
19-877123-G-T c.1411C>A p.L471M Missense 9/16 - 1
19-877124-C-A c.1410G>T p.A470= Synonymous 9/16 - 1
19-877124-C-G c.1410G>C p.A470= Synonymous 9/16 - 1
19-877124-C-T c.1410G>A p.A470= Synonymous 9/16 - 2
19-877125-G-A c.1409C>T p.A470V Missense 9/16 - 4
19-877126-C-T c.1408G>A p.A470T Missense 9/16 - 1
19-877142-C-A c.1392G>T p.P464= Synonymous 9/16 - 1
19-877142-C-T c.1392G>A p.P464= Synonymous 9/16 - 1
19-877144-G-A c.1390C>T p.P464S Missense 9/16 - 4
19-877150-C-T c.1384G>A p.G462S Missense 9/16 - 1
19-877154-G-A c.1380C>T p.S460= Synonymous 9/16 - 1
19-877154-G-C c.1380C>G p.S460= Synonymous 9/16 - 1
19-877154-G-T c.1380C>A p.S460= Synonymous 9/16 - 1
19-877155-G-C c.1379C>G p.S460C Missense 9/16 - 1
19-877158-G-A c.1376C>T p.P459L Missense 9/16 - 1
19-877166-G-A c.1368C>T p.R456= Synonymous 9/16 - 2
19-877168-G-T c.1366C>A p.R456S Missense 9/16 - 1
19-877171-G-T c.1363C>A p.L455I Missense 9/16 - 1
19-877172-C-A c.1362G>T p.V454= Synonymous 9/16 - 1
19-877172-C-G c.1362G>C p.V454= Synonymous 9/16 - 1
19-877172-C-T c.1362G>A p.V454= Synonymous 9/16 - 1
19-877178-C-A c.1356G>T p.L452= Synonymous 9/16 - 1
19-877178-C-G c.1356G>C p.L452= Synonymous 9/16 - 1
19-877178-C-T c.1356G>A p.L452= Synonymous 9/16 - 1
19-877180-G-A c.1354C>T p.L452= Synonymous 9/16 - 1
19-877295-C-CCT c.1354-116_1354-115insAG - IntronicInsertion - 8/15 2
19-877899-G-A c.1354-719C>T - IntronicSNV - 8/15 1
19-878219-T-C c.1354-1039A>G - IntronicSNV - 8/15 1
19-878473-A-C c.1354-1293T>G - IntronicSNV - 8/15 1
19-878626-C-G c.1353+1311G>C - IntronicSNV - 8/15 1
19-878821-C-A c.1353+1116G>T - IntronicSNV - 8/15 1
19-878821-C-G c.1353+1116G>C - IntronicSNV - 8/15 1
19-879025-T-C c.1353+912A>G - IntronicSNV - 8/15 1
19-879025-T-G c.1353+912A>C - IntronicSNV - 8/15 1
19-879123-C-A c.1353+814G>T - IntronicSNV - 8/15 1
19-879151-C-T c.1353+786G>A - IntronicSNV - 8/15 1
19-879380-G-A c.1353+557C>T - IntronicSNV - 8/15 1
19-879380-G-C c.1353+557C>G - IntronicSNV - 8/15 1
19-879399-A-G c.1353+538T>C - IntronicSNV - 8/15 1
19-879615-C-A c.1353+322G>T - IntronicSNV - 8/15 1
19-879628-C-T c.1353+309G>A - IntronicSNV - 8/15 1
19-879677-C-G c.1353+260G>C - IntronicSNV - 8/15 1
19-879681-G-A c.1353+256C>T - IntronicSNV - 8/15 1
19-879735-G-A c.1353+202C>T - IntronicSNV - 8/15 1
19-879743-C-G c.1353+194G>C - IntronicSNV - 8/15 1
19-879776-G-A c.1353+161C>T - IntronicSNV - 8/15 1
19-879791-G-A c.1353+146C>T - IntronicSNV - 8/15 3
19-879796-C-T c.1353+141G>A - IntronicSNV - 8/15 1
19-879799-C-G c.1353+138G>C - IntronicSNV - 8/15 1
19-879803-C-T c.1353+134G>A - IntronicSNV - 8/15 1
19-879811-C-G c.1353+126G>C - IntronicSNV - 8/15 1
19-879820-G-C c.1353+117C>G - IntronicSNV - 8/15 2
19-879821-G-C c.1353+116C>G - IntronicSNV - 8/15 2
19-879852-C-T c.1353+85G>A - IntronicSNV - 8/15 1
19-879879-G-A c.1353+58C>T - IntronicSNV - 8/15 1
19-879887-C-G c.1353+50G>C - IntronicSNV - 8/15 2
19-879899-G-C c.1353+38C>G - IntronicSNV - 8/15 1
19-879912-G-A c.1353+25C>T - IntronicSNV - 8/15 1
19-879935-A-G c.1353+2T>C - IntronicSNV - 8/15 1
19-879943-G-C c.1347C>G p.H449Q Missense 8/16 - 5
19-879943-G-T c.1347C>A p.H449Q Missense 8/16 - 3
19-879945-G-A c.1345C>T p.H449Y Missense 8/16 - 1
19-879947-C-T c.1343G>A p.S448N Missense 8/16 - 2
19-879952-A-C c.1338T>G p.I446M Missense 8/16 - 1
19-879952-A-G c.1338T>C p.I446= Synonymous 8/16 - 1
19-879954-T-C c.1336A>G p.I446V Missense 8/16 - 1
19-879955-C-A c.1335G>T p.G445= Synonymous 8/16 - 1
19-879955-C-G c.1335G>C p.G445= Synonymous 8/16 - 2
19-879955-C-T c.1335G>A p.G445= Synonymous 8/16 - 1
19-879958-CAC-GAT c.1330_1332delinsATC p.V444I Missense 8/16 - 1
19-879961-C-A c.1329G>T p.L443= Synonymous 8/16 - 1
19-879962-A-G c.1328T>C p.L443P Missense 8/16 - 1
19-879963-G-A c.1327C>T p.L443= Synonymous 8/16 - 1
19-879964-G-C c.1326C>G p.A442= Synonymous 8/16 - 1
19-879965-G-A c.1325C>T p.A442V Missense 8/16 - 1
19-879965-G-C c.1325C>G p.A442G Missense 8/16 - 1
19-879966-C-T c.1324G>A p.A442T Missense 8/16 - 1
19-879973-C-A c.1317G>T p.T439= Synonymous 8/16 - 1
19-879973-C-G c.1317G>C p.T439= Synonymous 8/16 - 1
19-879973-C-T c.1317G>A p.T439= Synonymous 8/16 - 1
19-879975-T-A c.1315A>T p.T439S Missense 8/16 - 1
19-879977-C-A c.1313G>T p.W438L Missense 8/16 - 1
19-879980-G-A c.1310C>T p.S437L Missense 8/16 - 2
19-879984-G-T c.1306C>A p.L436I Missense 8/16 - 2
19-879985-C-T c.1305G>A p.Q435= Synonymous 8/16 - 1
19-879987-G-A c.1303C>T p.Q435* Nonsense 8/16 - 1
19-879990-T-C c.1300A>G p.M434V Missense 8/16 - 1
19-879999-A-C c.1291T>G p.L431V Missense 8/16 - 1
19-880002-G-A c.1288C>T p.H430Y Missense 8/16 - 2
19-880004-A-T c.1286T>A p.V429D Missense 8/16 - 2
19-880005-C-T c.1285G>A p.V429I Missense 8/16 - 3
19-880007-G-A c.1283C>T p.A428V Missense 8/16 - 2
19-880010-G-A c.1280C>T p.P427L Missense 8/16 - 3
19-880013-C-G c.1277G>C p.G426A Missense 8/16 - 1
19-880016-G-A c.1274C>T p.A425V Missense 8/16 - 1
19-880018-G-A c.1272C>T p.T424= Synonymous 8/16 - 1
19-880018-G-C c.1272C>G p.T424= Synonymous 8/16 - 1
19-880018-G-T c.1272C>A p.T424= Synonymous 8/16 - 1
19-880019-G-A c.1271C>T p.T424I Missense 8/16 - 1
19-880022-C-T c.1268G>A p.R423H Missense 8/16 - 2
19-880024-G-A c.1266C>T p.P422= Synonymous 8/16 - 2
19-880024-G-C c.1266C>G p.P422= Synonymous 8/16 - 1
19-880024-G-T c.1266C>A p.P422= Synonymous 8/16 - 1
19-880025-G-A c.1265C>T p.P422L Missense 8/16 - 2
19-880026-G-T c.1264C>A p.P422T Missense 8/16 - 1
19-880027-GC-TT c.1262_1263delinsAA p.R421Q Missense 8/16 - 1
19-880029-G-A c.1261C>T p.R421C Missense 8/16 - 1
19-880030-C-T c.1260G>A p.K420= Synonymous 8/16 - 1
19-880040-G-A c.1250C>T p.P417L Missense 8/16 - 1
19-880041-G-A c.1249C>T p.P417S Missense 8/16 - 1
19-880044-C-T c.1246G>A p.E416K Missense 8/16 - 1
19-880049-ACAGGC-A c.1236_1240del p.R412Sfs*3 Frameshift 8/16 - 1
19-880054-C-A c.1236G>T p.R412S Missense 8/16 - 1
19-880054-C-G c.1236G>C p.R412S Missense 8/16 - 1
19-880055-C-T c.1235G>A p.R412K Missense 8/16 - 1
19-880058-G-A c.1232C>T p.P411L Missense 8/16 - 1
19-880059-G-A c.1231C>T p.P411S Missense 8/16 - 1
19-880063-C-A c.1227G>T p.A409= Synonymous 8/16 - 1
19-880063-C-G c.1227G>C p.A409= Synonymous 8/16 - 1
19-880063-C-T c.1227G>A p.A409= Synonymous 8/16 - 1
19-880066-G-A c.1224C>T p.S408= Synonymous 8/16 - 14
19-880066-G-C c.1224C>G p.S408= Synonymous 8/16 - 10
19-880066-G-T c.1224C>A p.S408= Synonymous 8/16 - 1
19-880067-G-C c.1223C>G p.S408C Missense 8/16 - 1
19-880069-G-A c.1221C>T p.S407= Synonymous 8/16 - 1
19-880081-G-A c.1209C>T p.A403= Synonymous 8/16 - 1
19-880081-G-C c.1209C>G p.A403= Synonymous 8/16 - 1
19-880087-GG-CA c.1202_1203delinsTG p.T401M Missense 8/16 - 1
19-880093-C-G c.1197G>C p.L399= Synonymous 8/16 - 1
19-880095-G-T c.1195C>A p.L399M Missense 8/16 - 1
19-880096-T-A c.1194A>T p.S398= Synonymous 8/16 - 1
19-880096-T-C c.1194A>G p.S398= Synonymous 8/16 - 1
19-880096-T-G c.1194A>C p.S398= Synonymous 8/16 - 1
19-880103-C-T c.1187G>A p.R396Q Missense 8/16 - 1
19-880104-G-A c.1186C>T p.R396W Missense 8/16 - 1
19-880110-C-T c.1180G>A p.V394M Missense 8/16 - 1
19-880111-G-A c.1179C>T p.I393= Synonymous 8/16 - 1
19-880111-G-T c.1179C>A p.I393= Synonymous 8/16 - 1
19-880116-G-A c.1174C>T p.H392Y Missense 8/16 - 3
19-880117-G-A c.1173C>T p.V391= Synonymous 8/16 - 1
19-880117-G-C c.1173C>G p.V391= Synonymous 8/16 - 1
19-880117-G-T c.1173C>A p.V391= Synonymous 8/16 - 1
19-880120-G-A c.1170C>T p.S390= Synonymous 8/16 - 1
19-880125-C-A c.1165G>T p.G389C Missense 8/16 - 2
19-880127-T-C c.1163A>G p.D388G Missense 8/16 - 1
19-880128-C-A c.1162G>T p.D388Y Missense 8/16 - 1
19-880136-G-T c.1154C>A p.A385D Missense 8/16 - 1
19-880137-C-T c.1153G>A p.A385T Missense 8/16 - 1
19-880147-C-A c.1143G>T p.G381= Synonymous 8/16 - 1
19-880147-C-G c.1143G>C p.G381= Synonymous 8/16 - 1
19-880147-C-T c.1143G>A p.G381= Synonymous 8/16 - 1
19-880178-G-C c.1142-30C>G - IntronicSNV - 7/15 1
19-881413-A-G c.1141+146T>C - IntronicSNV - 7/15 3
19-881547-G-T c.1141+12C>A - IntronicSNV - 7/15 1
19-881554-C-T c.1141+5G>A - IntronicSNV - 7/15 1
19-881559-C-G c.1141G>C p.G381R Missense 7/16 - 1
19-881559-C-T c.1141G>A p.G381R Missense 7/16 - 2
19-881564-C-G c.1136G>C p.G379A Missense 7/16 - 3
19-881567-G-C c.1133C>G p.P378R Missense 7/16 - 1
19-881578-T-A c.1122A>T p.T374= Synonymous 7/16 - 1
19-881578-T-C c.1122A>G p.T374= Synonymous 7/16 - 1
19-881578-T-G c.1122A>C p.T374= Synonymous 7/16 - 1
19-881583-C-T c.1117G>A p.D373N Missense 7/16 - 2
19-881585-C-T c.1115G>A p.S372N Missense 7/16 - 1
19-881589-C-A c.1111G>T p.A371S Missense 7/16 - 6
19-881589-C-T c.1111G>A p.A371T Missense 7/16 - 1
19-881594-T-A c.1106A>T p.K369M Missense 7/16 - 1
19-881596-G-A c.1104C>T p.L368= Synonymous 7/16 - 1
19-881596-G-C c.1104C>G p.L368= Synonymous 7/16 - 2
19-881596-G-T c.1104C>A p.L368= Synonymous 7/16 - 1
19-881601-C-T c.1099G>A p.D367N Missense 7/16 - 3
19-881602-G-A c.1098C>T p.T366= Synonymous 7/16 - 1
19-881602-G-C c.1098C>G p.T366= Synonymous 7/16 - 1
19-881602-G-T c.1098C>A p.T366= Synonymous 7/16 - 1
19-881603-G-A c.1097C>T p.T366I Missense 7/16 - 3
19-881608-G-A c.1092C>T p.T364= Synonymous 7/16 - 1
19-881608-G-C c.1092C>G p.T364= Synonymous 7/16 - 1
19-881608-G-T c.1092C>A p.T364= Synonymous 7/16 - 1
19-881615-G-A c.1085C>T p.S362L Missense 7/16 - 1
19-881635-C-T c.1065G>A p.A355= Synonymous 7/16 - 1
19-881645-G-A c.1055C>T p.S352L Missense 7/16 - 2
19-881646-A-G c.1054T>C p.S352P Missense 7/16 - 1
19-881650-A-G c.1050T>C p.R350= Synonymous 7/16 - 1
19-881651-C-T c.1049G>A p.R350H Missense 7/16 - 1
19-881652-G-A c.1048C>T p.R350C Missense 7/16 - 1
19-881653-G-A c.1047C>T p.D349= Synonymous 7/16 - 2
19-881655-C-T c.1045G>A p.D349N Missense 7/16 - 1
19-881656-C-A c.1044G>T p.L348= Synonymous 7/16 - 1
19-881656-C-G c.1044G>C p.L348= Synonymous 7/16 - 1
19-881656-C-T c.1044G>A p.L348= Synonymous 7/16 - 1
19-881658-G-A c.1042C>T p.L348= Synonymous 7/16 - 2
19-881661-C-T c.1039G>A p.D347N Missense 7/16 - 2
19-881662-G-A c.1038C>T p.N346= Synonymous 7/16 - 1
19-881667-T-C c.1033A>G p.T345A Missense 7/16 - 1
19-881672-G-A c.1028C>T p.S343L Missense 7/16 - 1
19-881672-G-T c.1028C>A p.S343* Nonsense 7/16 - 1
19-881676-G-T c.1024C>A p.L342I Missense 7/16 - 4
19-881679-T-G c.1021A>C p.I341L Missense 7/16 - 1
19-881681-C-G c.1019G>C p.R340P Missense 7/16 - 1
19-881681-C-T c.1019G>A p.R340Q Missense 7/16 - 1
19-881682-G-A c.1018C>T p.R340W Missense 7/16 - 3
19-881686-T-C c.1014A>G p.K338= Synonymous 7/16 - 1
19-881689-G-A c.1011C>T p.L337= Synonymous 7/16 - 1
19-881689-G-C c.1011C>G p.L337= Synonymous 7/16 - 1
19-881689-G-T c.1011C>A p.L337= Synonymous 7/16 - 1
19-881695-T-C c.1005A>G p.T335= Synonymous 7/16 - 1
19-881704-T-C c.996A>G p.K332= Synonymous 7/16 - 2
19-881706-T-G c.994A>C p.K332Q Missense 7/16 - 1
19-881711-C-T c.989G>A p.G330D Missense 7/16 - 1
19-882694-G-A c.986-980C>T - IntronicSNV - 6/15 1
19-884660-T-C c.985+243A>G - IntronicSNV - 6/15 1
19-884782-C-G c.985+121G>C - IntronicSNV - 6/15 6
19-884782-C-T c.985+121G>A - IntronicSNV - 6/15 2
19-884906-C-A c.982G>T p.V328L Missense 6/16 - 1
19-884906-C-G c.982G>C p.V328L Missense 6/16 - 1
19-884907-G-A c.981C>T p.P327= Synonymous 6/16 - 2
19-884907-G-C c.981C>G p.P327= Synonymous 6/16 - 2
19-884907-G-T c.981C>A p.P327= Synonymous 6/16 - 2
19-884908-G-A c.980C>T p.P327L Missense 6/16 - 2
19-884910-G-A c.978C>T p.S326= Synonymous 6/16 - 1
19-884910-G-C c.978C>G p.S326= Synonymous 6/16 - 1
19-884910-G-T c.978C>A p.S326= Synonymous 6/16 - 1
19-884912-A-T c.976T>A p.S326T Missense 6/16 - 1
19-884913-G-A c.975C>T p.I325= Synonymous 6/16 - 1
19-884913-G-T c.975C>A p.I325= Synonymous 6/16 - 1
19-884925-G-A c.963C>T p.I321= Synonymous 6/16 - 1
19-884925-G-T c.963C>A p.I321= Synonymous 6/16 - 1
19-884929-T-A c.959A>T p.N320I Missense 6/16 - 1
19-884935-AC-TA c.952_953delinsTA p.V318* Nonsense 6/16 - 2
19-884936-AC-A c.952del p.V318* Frameshift 6/16 - 1
19-884936-C-CTA c.951_952insTA p.V318* Nonsense 6/16 - 1
19-884936-C-T c.952G>A p.V318M Missense 6/16 - 1
19-884937-G-A c.951C>T p.P317= Synonymous 6/16 - 3
19-884938-G-C c.950C>G p.P317R Missense 6/16 - 1
19-884939-G-A c.949C>T p.P317S Missense 6/16 - 1
19-884946-C-T c.942G>A p.E314= Synonymous 6/16 - 2
19-884948-C-G c.940G>C p.E314Q Missense 6/16 - 1
19-884953-C-T c.935G>A p.R312H Missense 6/16 - 1
19-884958-G-A c.930C>T p.S310= Synonymous 6/16 - 1
19-884964-G-A c.924C>T p.C308= Synonymous 6/16 - 2
19-884972-C-T c.916G>A p.V306M Missense 6/16 - 1
19-884973-G-A c.915C>T p.I305= Synonymous 6/16 - 2
19-884973-G-C c.915C>G p.I305M Missense 6/16 - 7
19-884974-A-T c.914T>A p.I305N Missense 6/16 - 2
19-884977-CT-AG c.910_911inv p.S304L Missense 6/16 - 1
19-884983-G-C c.905C>G p.T302S Missense 6/16 - 1
19-884984-T-A c.904A>T p.T302S Missense 6/16 - 1
19-884985-C-A c.903G>T p.Q301H Missense 6/16 - 2
19-884985-C-G c.903G>C p.Q301H Missense 6/16 - 5
19-884985-C-T c.903G>A p.Q301= Synonymous 6/16 - 2
19-884987-G-A c.901C>T p.Q301* Nonsense 6/16 - 1
19-884992-G-A c.896C>T p.S299F Missense 6/16 - 4
19-884993-A-G c.895T>C p.S299P Missense 6/16 - 1
19-884994-C-T c.894G>A p.A298= Synonymous 6/16 - 1
19-884996-C-A c.892G>T p.A298S Missense 6/16 - 1
19-884997-G-A c.891C>T p.C297= Synonymous 6/16 - 1
19-884998-C-T c.890G>A p.C297Y Missense 6/16 - 1
19-885000-C-A c.888G>T p.L296F Missense 6/16 - 1
19-885000-C-G c.888G>C p.L296F Missense 6/16 - 1
19-885118-T-C c.880-110A>G - IntronicSNV - 5/15 2
19-885398-G-C c.879+372C>G - IntronicSNV - 5/15 1
19-885706-G-C c.879+64C>G - IntronicSNV - 5/15 4
19-885777-G-A c.872C>T p.S291L Missense 5/16 - 2
19-885779-C-A c.870G>T p.M290I Missense 5/16 - 1
19-885779-C-G c.870G>C p.M290I Missense 5/16 - 1
19-885779-C-T c.870G>A p.M290I Missense 5/16 - 1
19-885786-C-T c.863G>A p.R288Q Missense 5/16 - 1
19-885788-G-A c.861C>T p.A287= Synonymous 5/16 - 1
19-885788-G-C c.861C>G p.A287= Synonymous 5/16 - 1
19-885788-G-T c.861C>A p.A287= Synonymous 5/16 - 1
19-885791-C-A c.858G>T p.L286= Synonymous 5/16 - 1
19-885791-C-G c.858G>C p.L286= Synonymous 5/16 - 1
19-885791-C-T c.858G>A p.L286= Synonymous 5/16 - 1
19-885793-G-A c.856C>T p.L286= Synonymous 5/16 - 1
19-885794-G-A c.855C>T p.F285= Synonymous 5/16 - 1
19-885802-G-T c.847C>A p.L283I Missense 5/16 - 1
19-885805-G-C c.844C>G p.H282D Missense 5/16 - 1
19-885810-A-G c.839T>C p.I280T Missense 5/16 - 1
19-885812-G-T c.837C>A p.A279= Synonymous 5/16 - 1
19-885816-G-A c.833C>T p.P278L Missense 5/16 - 1
19-885817-G-A c.832C>T p.P278S Missense 5/16 - 1
19-885818-A-G c.831T>C p.F277= Synonymous 5/16 - 18
19-885823-T-G c.826A>C p.K276Q Missense 5/16 - 1
19-885825-T-A c.824A>T p.D275V Missense 5/16 - 1
19-885831-C-A c.818G>T p.R273L Missense 5/16 - 1
19-885831-C-T c.818G>A p.R273H Missense 5/16 - 3
19-885832-G-A c.817C>T p.R273C Missense 5/16 - 2
19-885833-G-A c.816C>T p.N272= Synonymous 5/16 - 1
19-885838-G-A c.811C>T p.L271F Missense 5/16 - 4
19-885850-A-C c.799T>G p.C267G Missense 5/16 - 1
19-885852-C-T c.797G>A p.R266H Missense 5/16 - 2
19-885857-G-C c.792C>G p.F264L Missense 5/16 - 1
19-885857-G-T c.792C>A p.F264L Missense 5/16 - 1
19-885859-A-G c.790T>C p.F264L Missense 5/16 - 1
19-885862-G-T c.787C>A p.L263M Missense 5/16 - 2
19-885869-CAG-AAA c.778_780delinsTTT p.L260F Missense 5/16 - 1
19-885872-G-A c.777C>T p.I259= Synonymous 5/16 - 2
19-885879-G-A c.770C>T p.T257M Missense 5/16 - 1
19-885883-C-T c.766G>A p.D256N Missense 5/16 - 2
19-885886-T-A c.763A>T p.I255F Missense 5/16 - 1
19-885888-C-G c.761G>C p.R254P Missense 5/16 - 1
19-885888-C-T c.761G>A p.R254H Missense 5/16 - 2
19-885889-G-A c.760C>T p.R254C Missense 5/16 - 1
19-885899-G-A c.750C>T p.S250= Synonymous 5/16 - 1
19-885899-GCT-TCA c.748_750delinsTGA p.S250* Nonsense 5/16 - 1
19-885904-C-A c.745G>T p.V249L Missense 5/16 - 1
19-885904-C-G c.745G>C p.V249L Missense 5/16 - 1
19-885908-G-A c.741C>T p.S247= Synonymous 5/16 - 4
19-885910-T-A c.739A>T p.S247C Missense 5/16 - 1
19-885913-C-T c.736G>A p.V246M Missense 5/16 - 4
19-885914-G-T c.735C>A p.C245* Nonsense 5/16 - 1
19-885931-G-A c.718C>T p.Q240* Nonsense 5/16 - 2
19-885938-C-A c.711G>T p.S237= Synonymous 5/16 - 1
19-885938-C-G c.711G>C p.S237= Synonymous 5/16 - 1
19-885938-C-T c.711G>A p.S237= Synonymous 5/16 - 1
19-885941-C-A c.708G>T p.A236= Synonymous 5/16 - 1
19-885941-C-G c.708G>C p.A236= Synonymous 5/16 - 1
19-885941-C-T c.708G>A p.A236= Synonymous 5/16 - 2
19-885943-C-T c.706G>A p.A236T Missense 5/16 - 1
19-885944-G-C c.705C>G p.S235R Missense 5/16 - 4
19-885944-G-T c.705C>A p.S235R Missense 5/16 - 2
19-885946-T-G c.703A>C p.S235R Missense 5/16 - 2
19-885948-CT-GG c.700_701delinsCC p.S234P Missense 5/16 - 1
19-885952-C-T c.697G>A p.G233S Missense 5/16 - 1
19-885953-G-A c.696C>T p.D232= Synonymous 5/16 - 2
19-885956-C-T c.693G>A p.A231= Synonymous 5/16 - 1
19-885957-G-A c.692C>T p.A231V Missense 5/16 - 3
19-885958-C-A c.691G>T p.A231S Missense 5/16 - 1
19-885959-C-T c.690G>A p.T230= Synonymous 5/16 - 1
19-885965-C-T c.684G>A p.V228= Synonymous 5/16 - 1
19-885969-A-G c.680T>C p.V227A Missense 5/16 - 1
19-885970-C-T c.679G>A p.V227M Missense 5/16 - 2
19-885971-G-A c.678C>T p.I226= Synonymous 5/16 - 3
19-885978-C-G c.671G>C p.G224A Missense 5/16 - 2
19-885978-C-T c.671G>A p.G224D Missense 5/16 - 3
19-885979-C-T c.670G>A p.G224S Missense 5/16 - 2
19-885980-G-A c.669C>T p.G223= Synonymous 5/16 - 1
19-885980-G-C c.669C>G p.G223= Synonymous 5/16 - 1
19-885980-GCC-CCA c.667_669delinsTGG p.G223W Missense 5/16 - 1
19-885980-G-T c.669C>A p.G223= Synonymous 5/16 - 1
19-885985-C-T c.664G>A p.G222S Missense 5/16 - 1
19-885986-G-A c.663C>T p.T221= Synonymous 5/16 - 1
19-885986-G-C c.663C>G p.T221= Synonymous 5/16 - 1
19-885986-G-T c.663C>A p.T221= Synonymous 5/16 - 1
19-885987-G-A c.662C>T p.T221I Missense 5/16 - 3
19-885989-G-A c.660C>T p.F220= Synonymous 5/16 - 1
19-885998-G-A c.651C>T p.D217= Synonymous 5/16 - 1
19-886000-C-T c.649G>A p.D217N Missense 5/16 - 2
19-886001-G-A c.648C>T p.A216= Synonymous 5/16 - 4
19-886001-G-C c.648C>G p.A216= Synonymous 5/16 - 4
19-886007-G-A c.642C>T p.A214= Synonymous 5/16 - 1
19-886007-G-C c.642C>G p.A214= Synonymous 5/16 - 1
19-886007-G-T c.642C>A p.A214= Synonymous 5/16 - 1
19-886008-G-A c.641C>T p.A214V Missense 5/16 - 2
19-886010-C-A c.639G>T p.V213= Synonymous 5/16 - 2
19-886010-C-G c.639G>C p.V213= Synonymous 5/16 - 2
19-886010-C-T c.639G>A p.V213= Synonymous 5/16 - 2
19-886012-C-T c.637G>A p.V213M Missense 5/16 - 2
19-886014-C-T c.635G>A p.R212H Missense 5/16 - 2
19-886015-G-A c.634C>T p.R212C Missense 5/16 - 2
19-886017-C-T c.632G>A p.G211D Missense 5/16 - 1
19-886018-C-T c.631G>A p.G211S Missense 5/16 - 1
19-886028-G-A c.621C>T p.C207= Synonymous 5/16 - 1
19-886029-C-T c.620G>A p.C207Y Missense 5/16 - 1
19-886044-G-A c.605C>T p.S202F Missense 5/16 - 1
19-886045-A-G c.604T>C p.S202P Missense 5/16 - 1
19-886046-C-A c.603G>T p.T201= Synonymous 5/16 - 1
19-886046-C-G c.603G>C p.T201= Synonymous 5/16 - 1
19-886046-C-T c.603G>A p.T201= Synonymous 5/16 - 1
19-886047-G-T c.602C>A p.T201K Missense 5/16 - 1
19-886050-A-G c.599T>C p.L200P Missense 5/16 - 1
19-886053-A-G c.596T>C p.V199A Missense 5/16 - 1
19-886058-C-A c.591G>T p.G197= Synonymous 5/16 - 1
19-886058-C-G c.591G>C p.G197= Synonymous 5/16 - 1
19-886058-C-T c.591G>A p.G197= Synonymous 5/16 - 1
19-886060-C-T c.589G>A p.G197R Missense 5/16 - 1
19-886062-C-G c.587G>C p.S196T Missense 5/16 - 1
19-886062-CT-AG c.586_587inv p.S196L Missense 5/16 - 1
19-886066-G-C c.583C>G p.P195A Missense 5/16 - 1
19-886073-C-T c.576G>A p.L192= Synonymous 5/16 - 1
19-886076-G-A c.573C>T p.S191= Synonymous 5/16 - 1
19-886076-G-C c.573C>G p.S191= Synonymous 5/16 - 1
19-886076-G-T c.573C>A p.S191= Synonymous 5/16 - 1
19-886079-CAC-GAT c.568_570delinsATC p.V190I Missense 5/16 - 1
19-886081-C-T c.568G>A p.V190M Missense 5/16 - 1
19-886082-G-A c.567C>T p.T189= Synonymous 5/16 - 2
19-886082-G-C c.567C>G p.T189= Synonymous 5/16 - 1
19-886082-G-T c.567C>A p.T189= Synonymous 5/16 - 1
19-886084-T-G c.565A>C p.T189P Missense 5/16 - 1
19-886087-C-G c.562G>C p.V188L Missense 5/16 - 1
19-886088-C-A c.561G>T p.L187= Synonymous 5/16 - 1
19-886088-C-T c.561G>A p.L187= Synonymous 5/16 - 1
19-886091-G-A c.558C>T p.G186= Synonymous 5/16 - 1
19-886093-C-T c.556G>A p.G186S Missense 5/16 - 1
19-886094-G-A c.555C>T p.S185= Synonymous 5/16 - 1
19-886098-A-G c.551T>C p.V184A Missense 5/16 - 2
19-886101-G-A c.548C>T p.T183M Missense 5/16 - 1
19-886106-C-T c.543G>A p.A181= Synonymous 5/16 - 1
19-886108-C-A c.541G>T p.A181S Missense 5/16 - 1
19-886109-G-A c.540C>T p.I180= Synonymous 5/16 - 1
19-886110-A-G c.539T>C p.I180T Missense 5/16 - 1
19-886120-C-A c.529G>T p.E177* Nonsense 5/16 - 1
19-886121-C-A c.528G>T p.M176I Missense 5/16 - 1
19-886121-C-G c.528G>C p.M176I Missense 5/16 - 1
19-886121-C-T c.528G>A p.M176I Missense 5/16 - 1
19-886124-G-A c.525C>T p.P175= Synonymous 5/16 - 1
19-886124-G-C c.525C>G p.P175= Synonymous 5/16 - 1
19-886124-G-T c.525C>A p.P175= Synonymous 5/16 - 1
19-886127-C-A c.522G>T p.K174N Missense 5/16 - 1
19-886127-GCTT-G c.520_522del p.K174del InFrameDeletion 5/16 - 1
19-886135-C-T c.514G>A p.G172S Missense 5/16 - 1
19-886141-G-C c.508C>G p.L170V Missense 5/16 - 1
19-886144-T-G c.505A>C p.T169P Missense 5/16 - 1
19-886146-A-T c.503T>A p.L168H Missense 5/16 - 1
19-886149-G-A c.500C>T p.S167L Missense 5/16 - 1
19-886151-C-T c.498G>A p.P166= Synonymous 5/16 - 1
19-886152-G-A c.497C>T p.P166L Missense 5/16 - 1
19-886157-G-A c.492C>T p.F164= Synonymous 5/16 - 1
19-886157-G-C c.492C>G p.F164L Missense 5/16 - 1
19-886157-G-T c.492C>A p.F164L Missense 5/16 - 1
19-886159-A-G c.490T>C p.F164L Missense 5/16 - 4
19-886165-C-T c.484G>A p.V162I Missense 5/16 - 4
19-886166-TCG-ACA c.481_483delinsTGT p.R161C Missense 5/16 - 1
19-886167-C-T c.482G>A p.R161Q Missense 5/16 - 1
19-886168-G-A c.481C>T p.R161* Nonsense 5/16 - 2
19-886175-C-T c.474G>A p.K158= Synonymous 5/16 - 1
19-886183-C-A c.466G>T p.G156W Missense 5/16 - 1
19-886183-C-G c.466G>C p.G156R Missense 5/16 - 1
19-886183-C-T c.466G>A p.G156R Missense 5/16 - 1
19-886184-G-A c.465C>T p.F155= Synonymous 5/16 - 2
19-886192-A-G c.457T>C p.S153P Missense 5/16 - 1
19-886193-G-A c.456C>T p.A152= Synonymous 5/16 - 1
19-886194-G-T c.455C>A p.A152D Missense 5/16 - 1
19-886198-C-T c.451G>A p.G151S Missense 5/16 - 2
19-886200-GA-CC c.448_449delinsGG p.S150G Missense 5/16 - 1
19-886224-G-A c.448-23C>T - IntronicSNV - 4/15 1
19-886224-G-T c.448-23C>A - IntronicSNV - 4/15 1
19-886232-C-T c.448-31G>A - IntronicSNV - 4/15 1
19-886257-A-G c.448-56T>C - IntronicSNV - 4/15 3
19-887128-A-C c.448-927T>G - IntronicSNV - 4/15 1
19-887128-A-G c.448-927T>C - IntronicSNV - 4/15 1
19-889564-G-A c.447+74C>T - IntronicSNV - 4/15 1
19-889623-G-A c.447+15C>T - IntronicSNV - 4/15 2
19-889623-G-C c.447+15C>G - IntronicSNV - 4/15 2
19-889647-G-A c.438C>T p.H146= Synonymous 4/16 - 2
19-889651-AG-CA c.433_434delinsTG p.L145W Missense 4/16 - 2
19-889653-G-A c.432C>T p.A144= Synonymous 4/16 - 1
19-889653-G-C c.432C>G p.A144= Synonymous 4/16 - 1
19-889653-G-T c.432C>A p.A144= Synonymous 4/16 - 1
19-889654-G-A c.431C>T p.A144V Missense 4/16 - 1
19-889662-C-A c.423G>T p.V141= Synonymous 4/16 - 1
19-889662-C-G c.423G>C p.V141= Synonymous 4/16 - 1
19-889662-C-T c.423G>A p.V141= Synonymous 4/16 - 1
19-889669-T-A c.416A>T p.N139I Missense 4/16 - 2
19-889673-G-A c.412C>T p.H138Y Missense 4/16 - 2
19-889676-G-C c.409C>G p.L137V Missense 4/16 - 1
19-889680-G-A c.405C>T p.S135= Synonymous 4/16 - 2
19-889680-G-C c.405C>G p.S135= Synonymous 4/16 - 1
19-889680-G-T c.405C>A p.S135= Synonymous 4/16 - 1
19-889681-G-C c.404C>G p.S135C Missense 4/16 - 1
19-889685-G-T c.400C>A p.L134M Missense 4/16 - 2
19-889686-G-A c.399C>T p.A133= Synonymous 4/16 - 1
19-889686-G-C c.399C>G p.A133= Synonymous 4/16 - 1
19-889688-C-T c.397G>A p.A133T Missense 4/16 - 1
19-889701-C-T c.384G>A p.G128= Synonymous 4/16 - 1
19-889703-C-T c.382G>A p.G128R Missense 4/16 - 2
19-889704-C-T c.381G>A p.E127= Synonymous 4/16 - 1
19-889711-AG-GC c.373_374delinsGC p.L125A Missense 4/16 - 1
19-889714-CT-GG c.370_371delinsCC p.S124P Missense 4/16 - 1
19-889718-C-T c.367G>A p.G123S Missense 4/16 - 1
19-889723-TG-T c.362del p.S121* Frameshift 4/16 - 1
19-889726-C-A c.359G>T p.S120I Missense 4/16 - 1
19-889728-C-A c.357G>T p.E119D Missense 4/16 - 1
19-889728-C-G c.357G>C p.E119D Missense 4/16 - 3
19-889729-T-G c.356A>C p.E119A Missense 4/16 - 1
19-889730-C-G c.355G>C p.E119Q Missense 4/16 - 1
19-889731-C-T c.354G>A p.W118* Nonsense 4/16 - 1
19-889732-C-T c.353G>A p.W118* Nonsense 4/16 - 1
19-889733-A-G c.352T>C p.W118R Missense 4/16 - 1
19-889733-A-T c.352T>A p.W118R Missense 4/16 - 1
19-889747-T-G c.338A>C p.H113P Missense 4/16 - 1
19-889748-G-T c.337C>A p.H113N Missense 4/16 - 1
19-889751-C-T c.334G>A p.D112N Missense 4/16 - 1
19-889753-G-A c.332C>T p.A111V Missense 4/16 - 2
19-889754-C-T c.331G>A p.A111T Missense 4/16 - 3
19-889757-T-C c.328A>G p.M110V Missense 4/16 - 1
19-889761-C-T c.324G>A p.W108* Nonsense 4/16 - 1
19-889762-C-T c.323G>A p.W108* Nonsense 4/16 - 1
19-889763-A-G c.322T>C p.W108R Missense 4/16 - 1
19-889765-CA-GT c.319_320delinsAC p.C107T Missense 4/16 - 1
19-889770-G-A c.315C>T p.I105= Synonymous 4/16 - 2
19-889771-A-G c.314T>C p.I105T Missense 4/16 - 1
19-889772-T-C c.313A>G p.I105V Missense 4/16 - 1
19-889775-G-A c.310C>T p.Q104* Nonsense 4/16 - 1
19-889778-C-G c.307G>C p.G103R Missense 4/16 - 2
19-889778-C-T c.307G>A p.G103R Missense 4/16 - 2
19-889781-C-T c.304G>A p.D102N Missense 4/16 - 2
19-889782-G-A c.303C>T p.A101= Synonymous 4/16 - 1
19-889783-G-C c.302C>G p.A101G Missense 4/16 - 1
19-889792-GA-CT c.292_293delinsAG p.S98R Missense 4/16 - 1
19-889797-GA-TT c.287_288delinsAA p.L96Q Missense 4/16 - 1
19-889799-G-A c.286C>T p.L96F Missense 4/16 - 1
19-889800-CC-AT c.284_285delinsAT p.R95H Missense 4/16 - 1
19-889805-A-G c.280T>C p.S94P Missense 4/16 - 1
19-889806-G-A c.279C>T p.G93= Synonymous 4/16 - 1
19-889821-G-A c.278-14C>T - IntronicSNV - 3/15 1
19-890073-C-T c.277+64G>A - IntronicSNV - 3/15 1
19-890092-G-A c.277+45C>T - IntronicSNV - 3/15 1
19-890099-G-A c.277+38C>T - IntronicSNV - 3/15 1
19-890139-G-A c.275C>T p.S92L Missense 3/16 - 1
19-890153-C-A c.261G>T p.L87= Synonymous 3/16 - 1
19-890153-C-G c.261G>C p.L87= Synonymous 3/16 - 1
19-890153-C-T c.261G>A p.L87= Synonymous 3/16 - 1
19-890155-G-A c.259C>T p.L87= Synonymous 3/16 - 1
19-890156-G-A c.258C>T p.C86= Synonymous 3/16 - 1
19-890156-G-T c.258C>A p.C86* Nonsense 3/16 - 1
19-890159-G-A c.255C>T p.T85= Synonymous 3/16 - 2
19-890159-G-C c.255C>G p.T85= Synonymous 3/16 - 1
19-890159-G-T c.255C>A p.T85= Synonymous 3/16 - 1
19-890161-T-G c.253A>C p.T85P Missense 3/16 - 1
19-890165-G-A c.249C>T p.A83= Synonymous 3/16 - 6
19-890165-G-C c.249C>G p.A83= Synonymous 3/16 - 2
19-890165-G-T c.249C>A p.A83= Synonymous 3/16 - 2
19-890169-T-C c.245A>G p.E82G Missense 3/16 - 1
19-890170-C-T c.244G>A p.E82K Missense 3/16 - 4
19-890171-G-A c.243C>T p.H81= Synonymous 3/16 - 1
19-890176-G-A c.238C>T p.H80Y Missense 3/16 - 1
19-890182-A-G c.232T>C p.S78P Missense 3/16 - 1
19-890184-G-T c.230C>A p.P77H Missense 3/16 - 1
19-890191-A-G c.223T>C p.S75P Missense 3/16 - 1
19-890194-G-A c.220C>T p.H74Y Missense 3/16 - 1
19-890197-G-A c.217C>T p.L73= Synonymous 3/16 - 1
19-890200-C-A c.214G>T p.D72Y Missense 3/16 - 2
19-890216-G-A c.198C>T p.D66= Synonymous 3/16 - 1
19-890218-C-CA c.195_196insT p.D66* Nonsense 3/16 - 1
19-890219-CAG-AAA c.193_195delinsTTT p.L65F Missense 3/16 - 1
19-890221-G-T c.193C>A p.L65M Missense 3/16 - 3
19-890227-G-A c.187C>T p.H63Y Missense 3/16 - 1
19-890231-C-A c.183G>T p.M61I Missense 3/16 - 2
19-890231-C-G c.183G>C p.M61I Missense 3/16 - 1
19-890231-C-T c.183G>A p.M61I Missense 3/16 - 1
19-890235-C-T c.179G>A p.R60H Missense 3/16 - 2
19-890237-G-T c.177C>A p.T59= Synonymous 3/16 - 1
19-890238-G-A c.176C>T p.T59I Missense 3/16 - 1
19-890238-G-C c.176C>G p.T59S Missense 3/16 - 1
19-890239-T-C c.175A>G p.T59A Missense 3/16 - 1
19-890295-G-A c.170-51C>T - IntronicSNV - 2/15 1
19-890310-A-G c.170-66T>C - IntronicSNV - 2/15 1
19-890844-A-C c.169+119T>G - IntronicSNV - 2/15 1
19-890844-A-G c.169+119T>C - IntronicSNV - 2/15 2
19-890881-T-G c.169+82A>C - IntronicSNV - 2/15 2
19-890945-G-GGCGCCGC c.-19+204_-19+205insGCGGCGC - IntronicInsertion - 1/15 1
19-890968-GT-G c.164del p.D55Afs*4 Frameshift 2/16 - 1
19-890972-C-T c.160G>A p.D54N Missense 2/16 - 1
19-890974-C-T c.158G>A p.S53N Missense 2/16 - 1
19-890977-C-T c.155G>A p.R52H Missense 2/16 - 2
19-890985-C-A c.147G>T p.M49I Missense 2/16 - 1
19-890985-C-G c.147G>C p.M49I Missense 2/16 - 1
19-890985-C-T c.147G>A p.M49I Missense 2/16 - 1
19-890996-C-T c.136G>A p.A46T Missense 2/16 - 4
19-891000-G-A c.132C>T p.L44= Synonymous 2/16 - 1
19-891000-G-C c.132C>G p.L44= Synonymous 2/16 - 1
19-891000-G-T c.132C>A p.L44= Synonymous 2/16 - 1
19-891007-C-T c.125G>A p.R42Q Missense 2/16 - 2
19-891008-G-A c.124C>T p.R42* Nonsense 2/16 - 1
19-891012-G-A c.120C>T p.S40= Synonymous 2/16 - 1
19-891012-G-C c.120C>G p.S40= Synonymous 2/16 - 1
19-891012-G-T c.120C>A p.S40= Synonymous 2/16 - 1
19-891013-G-C c.119C>G p.S40C Missense 2/16 - 1
19-891014-A-G c.118T>C p.S40P Missense 2/16 - 1
19-891015-C-A c.117G>T p.W39C Missense 2/16 - 2
19-891017-A-G c.115T>C p.W39R Missense 2/16 - 1
19-891017-A-T c.115T>A p.W39R Missense 2/16 - 1
19-891020-C-T c.112G>A p.A38T Missense 2/16 - 1
19-891021-G-A c.111C>T p.C37= Synonymous 2/16 - 1
19-891022-C-T c.110G>A p.C37Y Missense 2/16 - 1
19-891027-C-A c.105G>T p.L35= Synonymous 2/16 - 1
19-891027-C-G c.105G>C p.L35= Synonymous 2/16 - 1
19-891027-C-T c.105G>A p.L35= Synonymous 2/16 - 1
19-891029-G-A c.103C>T p.L35= Synonymous 2/16 - 1
19-891028-A-G c.104T>C p.L35P Missense 2/16 - 1
19-891030-G-A c.102C>T p.P34= Synonymous 2/16 - 1
19-891037-G-A c.95C>T p.S32L Missense 2/16 - 2
19-891038-A-G c.94T>C p.S32P Missense 2/16 - 1
19-891040-G-A c.92C>T p.P31L Missense 2/16 - 1
19-891046-T-G c.86A>C p.H29P Missense 2/16 - 1
19-891048-G-T c.84C>A p.T28= Synonymous 2/16 - 1
19-891055-T-C c.77A>G p.K26R Missense 2/16 - 1
19-891061-C-T c.71G>A p.W24* Nonsense 2/16 - 1
19-891075-A-G c.57T>C p.C19= Synonymous 2/16 - 1
19-891080-C-G c.52G>C p.V18L Missense 2/16 - 1
19-891080-C-T c.52G>A p.V18I Missense 2/16 - 3
19-891081-G-A c.51C>T p.Y17= Synonymous 2/16 - 1
19-891081-G-T c.51C>A p.Y17* Nonsense 2/16 - 1
19-891084-G-A c.48C>T p.A16= Synonymous 2/16 - 1
19-891085-GC-AA c.46_47delinsTT p.A16F Missense 2/16 - 1
19-891095-T-A c.37A>T p.M13L Missense 2/16 - 1
19-891095-T-G c.37A>C p.M13L Missense 2/16 - 1
19-891096-C-A c.36G>T p.M12I Missense 2/16 - 1
19-891096-C-G c.36G>C p.M12I Missense 2/16 - 1
19-891096-C-T c.36G>A p.M12I Missense 2/16 - 3
19-891097-AT-GC c.34_35delinsGC p.M12A Missense 2/16 - 1
19-891099-CCC-GCT c.31_33delinsAGC p.G11S Missense 2/16 - 1
19-891099-CC-GT c.32_33delinsAC p.G11D Missense 2/16 - 1
19-891102-A-C c.30T>G p.G10= Synonymous 2/16 - 2
19-891102-A-G c.30T>C p.G10= Synonymous 2/16 - 1
19-891102-A-T c.30T>A p.G10= Synonymous 2/16 - 1
19-891109-G-A c.23C>T p.A8V Missense 2/16 - 1
19-891112-G-A c.20C>T p.P7L Missense 2/16 - 1
19-891115-C-T c.17G>A p.R6Q Missense 2/16 - 1
19-891116-G-A c.16C>T p.R6W Missense 2/16 - 1
19-891119-G-A c.13C>T p.R5W Missense 2/16 - 1
19-891123-A-T c.9T>A p.D3E Missense 2/16 - 1
19-891124-T-A c.8A>T p.D3V Missense 2/16 - 1
19-891125-C-T c.7G>A p.D3N Missense 2/16 - 1
19-891156-G-T c.-18-7C>A - IntronicSNV - 1/15 1