MUC16

MUC16 mucin 16, cell surface associated

Annotation transcript: NM_024690

22766 unique variant annotations were identified in 1681 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
19-8959522-C-T c.*86G>A - 3-UTRSNV 84/84 - 1
19-8959615-A-G c.43517T>C p.L14506P Missense 84/84 - 1
19-8959619-C-T c.43513G>A p.D14505N Missense 84/84 - 1
19-8959623-C-T c.43509G>A p.L14503= Synonymous 84/84 - 2
19-8959625-G-T c.43507C>A p.L14503M Missense 84/84 - 2
19-8959632-G-T c.43500C>A p.H14500Q Missense 84/84 - 1
19-8959632-G-C c.43500C>G p.H14500Q Missense 84/84 - 1
19-8959633-T-C c.43499A>G p.H14500R Missense 84/84 - 1
19-8959654-C-A c.43478G>T p.C14493F Missense 84/84 - 1
19-8959654-C-T c.43478G>A p.C14493Y Missense 84/84 - 2
19-8959656-C-T c.43476G>A p.Q14492= Synonymous 84/84 - 1
19-8959659-T-A c.43473A>T p.Q14491H Missense 84/84 - 1
19-8959667-C-T c.43465G>A p.V14489I Missense 84/84 - 1
19-8959668-G-A c.43464C>T p.N14488= Synonymous 84/84 - 2
19-8959675-T-G c.43457A>C p.E14486A Missense 84/84 - 2
19-8959678-C-T c.43454G>A p.G14485E Missense 84/84 - 2
19-8959680-T-C c.43452A>G p.E14484= Synonymous 84/84 - 1
19-8959682-C-T c.43450G>A p.E14484K Missense 84/84 - 6
19-8959684-T-C c.43448A>G p.K14483R Missense 84/84 - 1
19-8959686-C-T c.43446G>A p.K14482= Synonymous 84/84 - 4
19-8959689-C-T c.43443G>A p.R14481= Synonymous 84/84 - 1
19-8959690-C-A c.43442G>T p.R14481L Missense 84/84 - 1
19-8959690-C-T c.43442G>A p.R14481Q Missense 84/84 - 1
19-8959691-G-A c.43441C>T p.R14481W Missense 84/84 - 4
19-8959694-G-A c.43438C>T p.R14480W Missense 84/84 - 6
19-8959696-C-T c.43436G>A p.R14479H Missense 84/84 - 6
19-8959696-C-G c.43436G>C p.R14479P Missense 84/84 - 1
19-8959697-G-A c.43435C>T p.R14479C Missense 84/84 - 1
19-8959698-G-T c.43434C>A p.T14478= Synonymous 84/84 - 2
19-8959700-T-G c.43432A>C p.T14478P Missense 84/84 - 1
19-8959702-G-T c.43430C>A p.T14477N Missense 84/84 - 1
19-8959706-C-T c.43426G>A p.V14476M Missense 84/84 - 1
19-8961772-A-G c.43425+180T>C - IntronicSNV - 83/83 2
19-8961772-A-T c.43425+180T>A - IntronicSNV - 83/83 1
19-8961817-C-A c.43425+135G>T - IntronicSNV - 83/83 1
19-8961837-T-C c.43425+115A>G - IntronicSNV - 83/83 1
19-8961956-A-G c.43421T>C p.V14474A Missense 83/84 - 1
19-8961960-C-T c.43417G>A p.G14473S Missense 83/84 - 3
19-8961961-G-A c.43416C>T p.C14472= Synonymous 83/84 - 4
19-8961968-A-C c.43409T>G p.L14470R Missense 83/84 - 1
19-8961979-G-T c.43398C>A p.V14466= Synonymous 83/84 - 1
19-8961979-G-C c.43398C>G p.V14466= Synonymous 83/84 - 1
19-8961979-G-A c.43398C>T p.V14466= Synonymous 83/84 - 1
19-8961981-C-G c.43396G>C p.V14466L Missense 83/84 - 34
19-8961995-G-A c.43382C>T p.A14461V Missense 83/84 - 4
19-8962001-C-T c.43376G>A p.G14459D Missense 83/84 - 4
19-8962003-G-A c.43374C>T p.I14458= Synonymous 83/84 - 2
19-8962003-G-T c.43374C>A p.I14458= Synonymous 83/84 - 1
19-8962008-G-T c.43369C>A p.L14457I Missense 83/84 - 1
19-8962009-G-T c.43368C>A p.I14456= Synonymous 83/84 - 1
19-8962009-G-A c.43368C>T p.I14456= Synonymous 83/84 - 2
19-8962012-G-T c.43365C>A p.V14455= Synonymous 83/84 - 1
19-8962012-G-C c.43365C>G p.V14455= Synonymous 83/84 - 1
19-8962012-G-A c.43365C>T p.V14455= Synonymous 83/84 - 1
19-8962013-A-G c.43364T>C p.V14455A Missense 83/84 - 1
19-8962014-C-A c.43363G>T p.V14455F Missense 83/84 - 1
19-8962016-G-A c.43361C>T p.A14454V Missense 83/84 - 4
19-8962018-C-A c.43359G>T p.W14453C Missense 83/84 - 1
19-8962018-C-G c.43359G>C p.W14453C Missense 83/84 - 1
19-8962025-G-A c.43352C>T p.P14451L Missense 83/84 - 2
19-8962026-G-A c.43351C>T p.P14451S Missense 83/84 - 2
19-8962029-G-A c.43348C>T p.L14450F Missense 83/84 - 5
19-8962030-G-A c.43347C>T p.D14449= Synonymous 83/84 - 1
19-8962315-C-A c.43345+39G>T - IntronicSNV - 82/83 8
19-8962362-C-A c.43337G>T p.G14446V Missense 82/84 - 3
19-8962360-TC-T c.43338del p.N14447Ifs*24 Frameshift 82/84 - 2
19-8962363-C-A c.43336G>T p.G14446W Missense 82/84 - 1
19-8962366-T-G c.43333A>C p.T14445P Missense 82/84 - 1
19-8962371-G-C c.43328C>G p.P14443R Missense 82/84 - 1
19-8962372-G-A c.43327C>T p.P14443S Missense 82/84 - 4
19-8962380-C-A c.43319G>T p.R14440I Missense 82/84 - 4
19-8962386-G-T c.43313C>A p.P14438H Missense 82/84 - 1
19-8962389-G-A c.43310C>T p.S14437F Missense 82/84 - 7
19-8962395-C-T c.43304G>A p.G14435E Missense 82/84 - 1
19-8962452-C-T c.43304-57G>A - IntronicSNV - 81/83 1
19-8962461-G-C c.43304-66C>G - IntronicSNV - 81/83 5
19-8964192-C-A c.43304-1797G>T - IntronicSNV - 81/83 1
19-8964192-C-T c.43304-1797G>A - IntronicSNV - 81/83 1
19-8966475-G-A c.43303+175C>T - IntronicSNV - 81/83 2
19-8966650-C-T c.43303G>A p.G14435R Missense 81/84 - 1
19-8966654-C-T c.43299G>A p.V14433= Synonymous 81/84 - 1
19-8966658-A-C c.43295T>G p.L14432R Missense 81/84 - 1
19-8966659-G-A c.43294C>T p.L14432F Missense 81/84 - 2
19-8966660-G-T c.43293C>A p.V14431= Synonymous 81/84 - 2
19-8966660-G-C c.43293C>G p.V14431= Synonymous 81/84 - 2
19-8966660-G-A c.43293C>T p.V14431= Synonymous 81/84 - 2
19-8966663-A-G c.43290T>C p.S14430= Synonymous 81/84 - 1
19-8966664-C-A c.43289G>T p.S14430I Missense 81/84 - 2
19-8966667-C-T c.43286G>A p.S14429N Missense 81/84 - 1
19-8966671-T-C c.43282A>G p.R14428G Missense 81/84 - 4
19-8966681-G-A c.43272C>T p.F14424= Synonymous 81/84 - 2
19-8966681-G-T c.43272C>A p.F14424L Missense 81/84 - 1
19-8966682-A-T c.43271T>A p.F14424Y Missense 81/84 - 1
19-8966694-T-A c.43259A>T p.Q14420L Missense 81/84 - 1
19-8966705-C-T c.43248G>A p.R14416= Synonymous 81/84 - 1
19-8966706-C-T c.43247G>A p.R14416Q Missense 81/84 - 2
19-8966710-T-C c.43243A>G p.T14415A Missense 81/84 - 1
19-8966711-C-T c.43242G>A p.M14414I Missense 81/84 - 1
19-8966713-T-A c.43240A>T p.M14414L Missense 81/84 - 1
19-8966715-C-T c.43238G>A p.R14413Q Missense 81/84 - 1
19-8966716-G-A c.43237C>T p.R14413W Missense 81/84 - 2
19-8966719-G-T c.43234C>A p.L14412M Missense 81/84 - 3
19-8966722-AT-A c.43230del p.E14410Dfs*5 Frameshift 81/84 - 1
19-8966725-C-T c.43228G>A p.E14410K Missense 81/84 - 7
19-8966726-C-T c.43227G>A p.E14409= Synonymous 81/84 - 1
19-8966737-C-T c.43216G>A p.A14406T Missense 81/84 - 1
19-8966740-C-T c.43213G>A p.V14405I Missense 81/84 - 4
19-8966741-T-C c.43212A>G p.R14404= Synonymous 81/84 - 1
19-8966742-C-T c.43211G>A p.R14404K Missense 81/84 - 5
19-8966751-C-T c.43202G>A p.R14401K Missense 81/84 - 3
19-8966754-C-G c.43199G>C p.R14400P Missense 81/84 - 3
19-8966754-C-T c.43199G>A p.R14400Q Missense 81/84 - 1
19-8966755-G-A c.43198C>T p.R14400W Missense 81/84 - 3
19-8966759-C-A c.43194G>T p.L14398= Synonymous 81/84 - 1
19-8966759-C-T c.43194G>A p.L14398= Synonymous 81/84 - 1
19-8966759-C-G c.43194G>C p.L14398= Synonymous 81/84 - 1
19-8966761-G-A c.43192C>T p.L14398= Synonymous 81/84 - 1
19-8966760-A-T c.43193T>A p.L14398Q Missense 81/84 - 1
19-8966763-G-A c.43190C>T p.P14397L Missense 81/84 - 3
19-8966765-C-T c.43188G>A p.S14396= Synonymous 81/84 - 2
19-8966765-C-A c.43188G>T p.S14396= Synonymous 81/84 - 1
19-8966765-C-G c.43188G>C p.S14396= Synonymous 81/84 - 1
19-8966766-G-A c.43187C>T p.S14396L Missense 81/84 - 3
19-8966766-G-T c.43187C>A p.S14396* Nonsense 81/84 - 1
19-8966769-A-G c.43184T>C p.F14395S Missense 81/84 - 2
19-8966770-A-C c.43183T>G p.F14395V Missense 81/84 - 1
19-8966779-G-A c.43174C>T p.L14392= Synonymous 81/84 - 1
19-8966780-G-A c.43173C>T p.S14391= Synonymous 81/84 - 2
19-8966781-G-A c.43172C>T p.S14391F Missense 81/84 - 4
19-8966784-T-A c.43169A>T p.D14390V Missense 81/84 - 1
19-8966786-C-T c.43167G>A p.V14389= Synonymous 81/84 - 1
19-8966786-C-G c.43167G>C p.V14389= Synonymous 81/84 - 1
19-8966786-C-A c.43167G>T p.V14389= Synonymous 81/84 - 1
19-8966789-C-A c.43164G>T p.G14388= Synonymous 81/84 - 2
19-8966789-C-T c.43164G>A p.G14388= Synonymous 81/84 - 2
19-8966789-C-G c.43164G>C p.G14388= Synonymous 81/84 - 2
19-8966790-C-G c.43163G>C p.G14388A Missense 81/84 - 1
19-8966791-C-A c.43162G>T p.G14388W Missense 81/84 - 3
19-8966791-C-T c.43162G>A p.G14388R Missense 81/84 - 4
19-8966791-C-G c.43162G>C p.G14388R Missense 81/84 - 3
19-8966793-G-C c.43160C>G p.T14387S Missense 81/84 - 1
19-8966794-T-A c.43159A>T p.T14387S Missense 81/84 - 1
19-8966798-G-A c.43155C>T p.H14385= Synonymous 81/84 - 1
19-8966799-T-C c.43154A>G p.H14385R Missense 81/84 - 1
19-8966800-G-T c.43153C>A p.H14385N Missense 81/84 - 1
19-8966807-G-T c.43146C>A p.P14382= Synonymous 81/84 - 2
19-8966811-A-T c.43142T>A p.V14381D Missense 81/84 - 1
19-8967034-G-A c.43137-218C>T - IntronicSNV - 80/83 1
19-8967133-G-A c.43137-317C>T - IntronicSNV - 80/83 1
19-8967133-G-C c.43137-317C>G - IntronicSNV - 80/83 1
19-8968549-A-C c.43136+331T>G - IntronicSNV - 80/83 2
19-8968549-A-T c.43136+331T>A - IntronicSNV - 80/83 1
19-8968719-T-A c.43136+161A>T - IntronicSNV - 80/83 1
19-8968872-G-C c.43136+8C>G - IntronicSNV - 80/83 1
19-8968882-G-A c.43134C>T p.F14378= Synonymous 80/84 - 1
19-8968893-C-T c.43123G>A p.V14375I Missense 80/84 - 1
19-8968894-T-C c.43122A>G p.Q14374= Synonymous 80/84 - 2
19-8968915-C-T c.43101G>A p.K14367= Synonymous 80/84 - 1
19-8968917-T-C c.43099A>G p.K14367E Missense 80/84 - 1
19-8968921-G-C c.43095C>G p.S14365R Missense 80/84 - 1
19-8968921-G-T c.43095C>A p.S14365R Missense 80/84 - 1
19-8968923-T-G c.43093A>C p.S14365R Missense 80/84 - 1
19-8968923-CT-C c.43093del p.S14365Afs*38 Frameshift 80/84 - 1
19-8968924-G-A c.43092C>T p.S14364= Synonymous 80/84 - 2
19-8968925-C-A c.43091G>T p.S14364I Missense 80/84 - 1
19-8968925-C-T c.43091G>A p.S14364N Missense 80/84 - 1
19-8968931-C-T c.43085G>A p.R14362Q Missense 80/84 - 4
19-8968932-G-A c.43084C>T p.R14362* Nonsense 80/84 - 4
19-8968933-G-A c.43083C>T p.F14361= Synonymous 80/84 - 1
19-8968943-T-A c.43073A>T p.N14358I Missense 80/84 - 3
19-8968945-G-T c.43071C>A p.L14357= Synonymous 80/84 - 1
19-8968947-G-A c.43069C>T p.L14357F Missense 80/84 - 1
19-8969276-C-T c.43068G>A p.A14356= Synonymous 79/84 - 3
19-8969276-C-G c.43068G>C p.A14356= Synonymous 79/84 - 1
19-8969276-C-A c.43068G>T p.A14356= Synonymous 79/84 - 1
19-8969277-G-C c.43067C>G p.A14356G Missense 79/84 - 1
19-8969277-G-T c.43067C>A p.A14356E Missense 79/84 - 3
19-8969277-G-A c.43067C>T p.A14356V Missense 79/84 - 1
19-8969281-C-A c.43063G>T p.D14355Y Missense 79/84 - 3
19-8969281-C-T c.43063G>A p.D14355N Missense 79/84 - 6
19-8969284-C-G c.43060G>C p.E14354Q Missense 79/84 - 4
19-8969298-T-A c.43046A>T p.N14349I Missense 79/84 - 1
19-8969305-G-A c.43039C>T p.Q14347* Nonsense 79/84 - 4
19-8969307-T-C c.43037A>G p.Y14346C Missense 79/84 - 1
19-8969314-T-C c.43030A>G p.T14344A Missense 79/84 - 1
19-8969320-C-A c.43024G>T p.G14342C Missense 79/84 - 1
19-8969323-G-A c.43021C>T p.P14341S Missense 79/84 - 4
19-8969327-G-A c.43017C>T p.A14339= Synonymous 79/84 - 1
19-8969336-C-T c.43008G>A p.Q14336= Synonymous 79/84 - 1
19-8969339-G-A c.43005C>T p.S14335= Synonymous 79/84 - 4
19-8969340-G-A c.43004C>T p.S14335F Missense 79/84 - 4
19-8969344-A-G c.43000T>C p.Y14334H Missense 79/84 - 9
19-8969344-TATG-T c.42998_43000del p.P14333_Y14334delinsH MultiAAMissense 79/84 - 1
19-8969346-G-A c.42998C>T p.P14333L Missense 79/84 - 2
19-8969362-T-C c.42982A>G p.T14328A Missense 79/84 - 1
19-8969363-G-A c.42981C>T p.F14327= Synonymous 79/84 - 1
19-8969376-A-C c.42968T>G p.F14323C Missense 79/84 - 1
19-8969381-C-T c.42963G>A p.Q14321= Synonymous 79/84 - 1
19-8969390-G-A c.42954C>T p.S14318= Synonymous 79/84 - 1
19-8969395-T-C c.42949A>G p.S14317G Missense 79/84 - 1
19-8969400-G-GT c.42943dup p.T14315Nfs*40 Frameshift 79/84 - 1
19-8969407-G-A c.42937C>T p.Q14313* Nonsense 79/84 - 1
19-8969409-T-C c.42935A>G p.Y14312C Missense 79/84 - 4
19-8969410-A-T c.42934T>A p.Y14312N Missense 79/84 - 2
19-8969415-G-C c.42929C>G p.S14310* Nonsense 79/84 - 1
19-8969415-G-A c.42929C>T p.S14310L Missense 79/84 - 2
19-8969419-A-G c.42925T>C p.S14309P Missense 79/84 - 1
19-8971569-C-T c.42916+107G>A - IntronicSNV - 78/83 1
19-8971676-C-T c.42916G>A p.E14306K Missense 78/84 - 3
19-8971681-A-T c.42911T>A p.V14304E Missense 78/84 - 4
19-8971684-T-C c.42908A>G p.H14303R Missense 78/84 - 1
19-8971685-G-T c.42907C>A p.H14303N Missense 78/84 - 1
19-8971686-G-C c.42906C>G p.I14302M Missense 78/84 - 3
19-8971690-T-C c.42902A>G p.D14301G Missense 78/84 - 1
19-8971691-C-T c.42901G>A p.D14301N Missense 78/84 - 2
19-8971695-C-A c.42897G>T p.L14299F Missense 78/84 - 2
19-8971695-C-T c.42897G>A p.L14299= Synonymous 78/84 - 1
19-8971695-C-G c.42897G>C p.L14299F Missense 78/84 - 1
19-8971700-G-A c.42892C>T p.Q14298* Nonsense 78/84 - 1
19-8971701-G-T c.42891C>A p.Y14297* Nonsense 78/84 - 1
19-8971701-G-A c.42891C>T p.Y14297= Synonymous 78/84 - 1
19-8971702-T-A c.42890A>T p.Y14297F Missense 78/84 - 1
19-8971705-G-C c.42887C>G p.T14296S Missense 78/84 - 2
19-8971706-T-A c.42886A>T p.T14296S Missense 78/84 - 4
19-8971708-G-A c.42884C>T p.S14295F Missense 78/84 - 3
19-8971710-G-A c.42882C>T p.G14294= Synonymous 78/84 - 1
19-8971710-G-C c.42882C>G p.G14294= Synonymous 78/84 - 1
19-8971710-G-T c.42882C>A p.G14294= Synonymous 78/84 - 1
19-8971716-C-G c.42876G>C p.W14292C Missense 78/84 - 2
19-8971716-C-A c.42876G>T p.W14292C Missense 78/84 - 1
19-8971729-G-A c.42863C>T p.A14288V Missense 78/84 - 1
19-8971730-C-A c.42862G>T p.A14288S Missense 78/84 - 2
19-8971737-G-T c.42855C>A p.T14285= Synonymous 78/84 - 1
19-8971737-G-C c.42855C>G p.T14285= Synonymous 78/84 - 1
19-8971737-G-A c.42855C>T p.T14285= Synonymous 78/84 - 1
19-8971740-C-T c.42852G>A p.K14284= Synonymous 78/84 - 1
19-8971743-A-C c.42849T>G p.D14283E Missense 78/84 - 1
19-8971743-A-T c.42849T>A p.D14283E Missense 78/84 - 1
19-8971745-C-G c.42847G>C p.D14283H Missense 78/84 - 1
19-8971760-C-T c.42832G>A p.E14278K Missense 78/84 - 1
19-8971766-G-T c.42826C>A p.L14276M Missense 78/84 - 1
19-8971774-T-G c.42818A>C p.D14273A Missense 78/84 - 1
19-8971776-C-T c.42816G>A p.L14272= Synonymous 78/84 - 2
19-8971776-C-A c.42816G>T p.L14272F Missense 78/84 - 1
19-8971776-C-G c.42816G>C p.L14272F Missense 78/84 - 1
19-8971781-T-G c.42811A>C p.N14271H Missense 78/84 - 1
19-8971783-G-A c.42809C>T p.S14270F Missense 78/84 - 1
19-8971781-TGGA-T c.42808_42810del p.S14270del InFrameDeletion 78/84 - 1
19-8971786-G-A c.42806C>T p.S14269F Missense 78/84 - 1
19-8971787-A-G c.42805T>C p.S14269P Missense 78/84 - 1
19-8971790-A-G c.42802T>C p.F14268L Missense 78/84 - 1
19-8971788-G-T c.42804C>A p.F14268L Missense 78/84 - 1
19-8971788-G-C c.42804C>G p.F14268L Missense 78/84 - 1
19-8971795-G-T c.42797C>A p.A14266E Missense 78/84 - 1
19-8971796-C-A c.42796G>T p.A14266S Missense 78/84 - 1
19-8971798-T-G c.42794A>C p.K14265T Missense 78/84 - 1
19-8971800-G-T c.42792C>A p.V14264= Synonymous 78/84 - 1
19-8971809-C-T c.42783G>A p.L14261= Synonymous 78/84 - 2
19-8971815-G-A c.42777C>T p.S14259= Synonymous 78/84 - 2
19-8971816-G-A c.42776C>T p.S14259F Missense 78/84 - 2
19-8971820-C-T c.42772G>A p.D14258N Missense 78/84 - 4
19-8971821-C-T c.42771G>A p.M14257I Missense 78/84 - 2
19-8971824-C-T c.42768G>A p.T14256= Synonymous 78/84 - 4
19-8972034-A-G c.42768-210T>C - IntronicSNV - 77/83 2
19-8972034-A-T c.42768-210T>A - IntronicSNV - 77/83 2
19-8972042-G-A c.42768-218C>T - IntronicSNV - 77/83 2
19-8973217-T-C c.42767+332A>G - IntronicSNV - 77/83 1
19-8973399-C-T c.42767+150G>A - IntronicSNV - 77/83 1
19-8973400-C-T c.42767+149G>A - IntronicSNV - 77/83 1
19-8973510-C-A c.42767+39G>T - IntronicSNV - 77/83 1
19-8973510-C-G c.42767+39G>C - IntronicSNV - 77/83 1
19-8973510-C-T c.42767+39G>A - IntronicSNV - 77/83 1
19-8973548-C-T c.42767+1G>A - IntronicSNV - 77/83 1
19-8973549-G-A c.42767C>T p.T14256M Missense 77/84 - 1
19-8973556-T-A c.42760A>T p.N14254Y Missense 77/84 - 1
19-8973557-G-T c.42759C>A p.T14253= Synonymous 77/84 - 1
19-8973559-T-C c.42757A>G p.T14253A Missense 77/84 - 3
19-8973563-C-A c.42753G>T p.L14251= Synonymous 77/84 - 1
19-8973563-C-T c.42753G>A p.L14251= Synonymous 77/84 - 2
19-8973563-C-G c.42753G>C p.L14251= Synonymous 77/84 - 1
19-8973565-G-A c.42751C>T p.L14251= Synonymous 77/84 - 1
19-8973574-G-C c.42742C>G p.R14248G Missense 77/84 - 1
19-8973574-G-A c.42742C>T p.R14248C Missense 77/84 - 2
19-8973575-G-A c.42741C>T p.F14247= Synonymous 77/84 - 4
19-8973586-G-T c.42730C>A p.H14244N Missense 77/84 - 1
19-8973587-T-A c.42729A>T p.L14243= Synonymous 77/84 - 1
19-8973587-T-C c.42729A>G p.L14243= Synonymous 77/84 - 1
19-8973587-T-G c.42729A>C p.L14243= Synonymous 77/84 - 1
19-8973589-G-A c.42727C>T p.L14243= Synonymous 77/84 - 1
19-8973588-A-G c.42728T>C p.L14243P Missense 77/84 - 2
19-8973595-T-A c.42721A>T p.S14241C Missense 77/84 - 1
19-8973595-T-C c.42721A>G p.S14241G Missense 77/84 - 1
19-8973595-T-G c.42721A>C p.S14241R Missense 77/84 - 1
19-8973596-G-A c.42720C>T p.G14240= Synonymous 77/84 - 2
19-8973596-G-C c.42720C>G p.G14240= Synonymous 77/84 - 1
19-8973596-G-T c.42720C>A p.G14240= Synonymous 77/84 - 1
19-8973598-C-T c.42718G>A p.G14240S Missense 77/84 - 1
19-8973604-A-G c.42712T>C p.Y14238H Missense 77/84 - 1
19-8973757-A-G c.42700-141T>C - IntronicSNV - 76/83 3
19-8973874-G-C c.42699+98C>G - IntronicSNV - 76/83 1
19-8973976-T-C c.42695A>G p.D14232G Missense 76/84 - 1
19-8973977-C-T c.42694G>A p.D14232N Missense 76/84 - 3
19-8973980-G-A c.42691C>T p.Q14231* Nonsense 76/84 - 1
19-8973985-T-C c.42686A>G p.D14229G Missense 76/84 - 1
19-8973988-C-T c.42683G>A p.R14228K Missense 76/84 - 4
19-8973992-G-T c.42679C>A p.L14227M Missense 76/84 - 1
19-8973998-T-G c.42673A>C p.T14225P Missense 76/84 - 1
19-8973999-G-A c.42672C>T p.I14224= Synonymous 76/84 - 4
19-8974001-T-G c.42670A>C p.I14224L Missense 76/84 - 1
19-8974003-T-C c.42668A>G p.Y14223C Missense 76/84 - 3
19-8974004-A-C c.42667T>G p.Y14223D Missense 76/84 - 4
19-8974012-G-A c.42659C>T p.S14220F Missense 76/84 - 2
19-8974013-A-T c.42658T>A p.S14220T Missense 76/84 - 1
19-8974018-G-T c.42653C>A p.P14218H Missense 76/84 - 2
19-8974024-G-A c.42647C>T p.P14216L Missense 76/84 - 2
19-8974035-G-A c.42636C>T p.N14212= Synonymous 76/84 - 2
19-8974038-C-T c.42633G>A p.W14211* Nonsense 76/84 - 1
19-8974039-C-T c.42632G>A p.W14211* Nonsense 76/84 - 2
19-8974052-G-A c.42619C>T p.H14207Y Missense 76/84 - 6
19-8974053-G-A c.42618C>T p.F14206= Synonymous 76/84 - 4
19-8974062-C-T c.42609G>A p.Q14203= Synonymous 76/84 - 3
19-8974070-C-T c.42601G>A p.E14201K Missense 76/84 - 2
19-8974071-G-A c.42600C>T p.G14200= Synonymous 76/84 - 1
19-8974075-C-T c.42596G>A p.R14199Q Missense 76/84 - 1
19-8974076-G-A c.42595C>T p.R14199W Missense 76/84 - 4
19-8974077-G-A c.42594C>T p.I14198= Synonymous 76/84 - 2
19-8974077-G-T c.42594C>A p.I14198= Synonymous 76/84 - 1
19-8974080-T-C c.42591A>G p.S14197= Synonymous 76/84 - 1
19-8974089-C-A c.42582G>T p.Q14194H Missense 76/84 - 3
19-8974089-C-G c.42582G>C p.Q14194H Missense 76/84 - 2
19-8974093-G-C c.42578C>G p.P14193R Missense 76/84 - 1
19-8974096-G-T c.42575C>A p.A14192E Missense 76/84 - 8
19-8974096-G-A c.42575C>T p.A14192V Missense 76/84 - 4
19-8974101-G-A c.42570C>T p.G14190= Synonymous 76/84 - 1
19-8974237-G-C c.42569-135C>G - IntronicSNV - 75/83 4
19-8974985-G-A c.42569-883C>T - IntronicSNV - 75/83 1
19-8976075-G-A c.42568+185C>T - IntronicSNV - 75/83 3
19-8976222-A-C c.42568+38T>G - IntronicSNV - 75/83 1
19-8976260-CCATTGATG-C c.42561_42568del p.F14187Lfs*26 SpliceDonorDeletion 75/84 - 1
19-8976265-A-T c.42563T>A p.I14188N Missense 75/84 - 1
19-8976273-G-C c.42555C>G p.S14185R Missense 75/84 - 1
19-8976274-C-T c.42554G>A p.S14185N Missense 75/84 - 3
19-8976277-T-C c.42551A>G p.D14184G Missense 75/84 - 5
19-8976278-C-T c.42550G>A p.D14184N Missense 75/84 - 1
19-8976279-C-T c.42549G>A p.R14183= Synonymous 75/84 - 4
19-8976283-T-A c.42545A>T p.D14182V Missense 75/84 - 3
19-8976289-A-G c.42539T>C p.V14180A Missense 75/84 - 1
19-8976296-A-C c.42532T>G p.F14178V Missense 75/84 - 5
19-8976305-G-T c.42523C>A p.Q14175K Missense 75/84 - 1
19-8976306-G-T c.42522C>A p.T14174= Synonymous 75/84 - 1
19-8976310-A-G c.42518T>C p.V14173A Missense 75/84 - 1
19-8976313-C-T c.42515G>A p.G14172D Missense 75/84 - 2
19-8976314-C-T c.42514G>A p.G14172S Missense 75/84 - 2
19-8976318-G-T c.42510C>A p.T14170= Synonymous 75/84 - 1
19-8976318-G-C c.42510C>G p.T14170= Synonymous 75/84 - 1
19-8976318-G-A c.42510C>T p.T14170= Synonymous 75/84 - 1
19-8976323-G-A c.42505C>T p.L14169= Synonymous 75/84 - 1
19-8976326-G-A c.42502C>T p.Q14168* Nonsense 75/84 - 5
19-8976330-C-T c.42498G>A p.L14166= Synonymous 75/84 - 2
19-8976330-C-A c.42498G>T p.L14166= Synonymous 75/84 - 1
19-8976330-C-G c.42498G>C p.L14166= Synonymous 75/84 - 1
19-8976332-G-A c.42496C>T p.L14166= Synonymous 75/84 - 1
19-8976335-C-T c.42493G>A p.E14165K Missense 75/84 - 3
19-8976336-C-T c.42492G>A p.W14164* Nonsense 75/84 - 1
19-8976338-A-T c.42490T>A p.W14164R Missense 75/84 - 1
19-8976338-A-G c.42490T>C p.W14164R Missense 75/84 - 1
19-8976343-A-C c.42485T>G p.L14162R Missense 75/84 - 1
19-8976344-G-A c.42484C>T p.L14162F Missense 75/84 - 2
19-8976355-T-G c.42473A>C p.D14158A Missense 75/84 - 1
19-8976356-C-T c.42472G>A p.D14158N Missense 75/84 - 1
19-8976359-G-T c.42469C>A p.L14157M Missense 75/84 - 1
19-8976360-C-G c.42468G>C p.G14156= Synonymous 75/84 - 1
19-8976362-C-T c.42466G>A p.G14156R Missense 75/84 - 1
19-8976362-C-G c.42466G>C p.G14156R Missense 75/84 - 1
19-8976363-G-A c.42465C>T p.P14155= Synonymous 75/84 - 1
19-8976368-C-A c.42460G>T p.G14154C Missense 75/84 - 5
19-8976370-A-G c.42458T>C p.V14153A Missense 75/84 - 2
19-8976374-G-T c.42454C>A p.P14152T Missense 75/84 - 1
19-8976377-C-T c.42451G>A p.D14151N Missense 75/84 - 3
19-8976379-G-A c.42449C>T p.P14150L Missense 75/84 - 2
19-8976381-G-A c.42447C>T p.H14149= Synonymous 75/84 - 1
19-8976382-T-G c.42446A>C p.H14149P Missense 75/84 - 1
19-8976389-T-G c.42439A>C p.T14147P Missense 75/84 - 1
19-8976391-C-A c.42437G>T p.C14146F Missense 75/84 - 1
19-8976393-G-T c.42435C>A p.T14145= Synonymous 75/84 - 2
19-8976393-G-C c.42435C>G p.T14145= Synonymous 75/84 - 1
19-8976393-G-A c.42435C>T p.T14145= Synonymous 75/84 - 1
19-8976397-G-A c.42431C>T p.T14144I Missense 75/84 - 4
19-8976400-T-C c.42428A>G p.D14143G Missense 75/84 - 1
19-8976408-A-G c.42420T>C p.T14140= Synonymous 75/84 - 2
19-8976409-G-C c.42419C>G p.T14140S Missense 75/84 - 1
19-8976416-C-T c.42412G>A p.A14138T Missense 75/84 - 2
19-8976422-C-T c.42406G>A p.D14136N Missense 75/84 - 5
19-8976423-C-T c.42405G>A p.K14135= Synonymous 75/84 - 4
19-8976426-C-G c.42402G>C p.E14134D Missense 75/84 - 1
19-8976426-C-A c.42402G>T p.E14134D Missense 75/84 - 1
19-8976428-C-G c.42400G>C p.E14134Q Missense 75/84 - 7
19-8976471-G-A c.42396-39C>T - IntronicSNV - 74/83 8
19-8976504-G-A c.42396-72C>T - IntronicSNV - 74/83 7
19-8976556-G-A c.42395+25C>T - IntronicSNV - 74/83 1
19-8976581-C-T c.42395G>A p.R14132K Missense 74/84 - 2
19-8976586-G-A c.42390C>T p.S14130= Synonymous 74/84 - 5
19-8976586-G-C c.42390C>G p.S14130= Synonymous 74/84 - 1
19-8976586-G-T c.42390C>A p.S14130= Synonymous 74/84 - 1
19-8976587-G-A c.42389C>T p.S14130F Missense 74/84 - 9
19-8976589-G-A c.42387C>T p.I14129= Synonymous 74/84 - 1
19-8976589-G-T c.42387C>A p.I14129= Synonymous 74/84 - 1
19-8976592-C-T c.42384G>A p.L14128= Synonymous 74/84 - 5
19-8976592-C-A c.42384G>T p.L14128= Synonymous 74/84 - 1
19-8976592-C-G c.42384G>C p.L14128= Synonymous 74/84 - 1
19-8976594-G-A c.42382C>T p.L14128= Synonymous 74/84 - 3
19-8976598-G-A c.42378C>T p.C14126= Synonymous 74/84 - 2
19-8976601-A-G c.42375T>C p.G14125= Synonymous 74/84 - 2
19-8976603-C-G c.42373G>C p.G14125R Missense 74/84 - 1
19-8976603-C-T c.42373G>A p.G14125S Missense 74/84 - 1
19-8976617-C-T c.42359G>A p.G14120D Missense 74/84 - 1
19-8976620-A-G c.42356T>C p.M14119T Missense 74/84 - 2
19-8976628-C-G c.42348G>C p.K14116N Missense 74/84 - 4
19-8976628-C-A c.42348G>T p.K14116N Missense 74/84 - 3
19-8976633-G-C c.42343C>G p.Q14115E Missense 74/84 - 1
19-8976633-G-A c.42343C>T p.Q14115* Nonsense 74/84 - 2
19-8976637-C-T c.42339G>A p.L14113= Synonymous 74/84 - 1
19-8976641-G-A c.42335C>T p.P14112L Missense 74/84 - 6
19-8976646-G-C c.42330C>G p.L14110= Synonymous 74/84 - 1
19-8976713-A-G c.42327+26T>C - IntronicSNV - 73/83 9
19-8976742-G-A c.42324C>T p.H14108= Synonymous 73/84 - 2
19-8976743-T-G c.42323A>C p.H14108P Missense 73/84 - 1
19-8976750-G-A c.42316C>T p.L14106F Missense 73/84 - 2
19-8976756-C-T c.42310G>A p.G14104R Missense 73/84 - 6
19-8976756-C-G c.42310G>C p.G14104R Missense 73/84 - 2
19-8976759-C-T c.42307G>A p.E14103K Missense 73/84 - 7
19-8976759-C-A c.42307G>T p.E14103* Nonsense 73/84 - 1
19-8976760-G-A c.42306C>T p.T14102= Synonymous 73/84 - 1
19-8976763-G-A c.42303C>T p.S14101= Synonymous 73/84 - 4
19-8976763-G-C c.42303C>G p.S14101= Synonymous 73/84 - 1
19-8976763-G-T c.42303C>A p.S14101= Synonymous 73/84 - 1
19-8976767-T-C c.42299A>G p.N14100S Missense 73/84 - 1
19-8976769-G-A c.42297C>T p.F14099= Synonymous 73/84 - 1
19-8976777-C-T c.42289G>A p.A14097T Missense 73/84 - 3
19-8976779-G-A c.42287C>T p.S14096L Missense 73/84 - 1
19-8976783-C-T c.42283G>A p.G14095S Missense 73/84 - 5
19-8976784-C-T c.42282G>A p.K14094= Synonymous 73/84 - 4
19-8976788-C-G c.42278G>C p.G14093A Missense 73/84 - 1
19-8976789-C-T c.42277G>A p.G14093S Missense 73/84 - 5
19-8976791-A-G c.42275T>C p.M14092T Missense 73/84 - 1
19-8976796-T-A c.42270A>T p.P14090= Synonymous 73/84 - 2
19-8976796-T-C c.42270A>G p.P14090= Synonymous 73/84 - 3
19-8976796-T-G c.42270A>C p.P14090= Synonymous 73/84 - 2
19-8976802-A-T c.42264T>A p.Y14088* Nonsense 73/84 - 3
19-8976802-A-C c.42264T>G p.Y14088* Nonsense 73/84 - 3
19-8976803-T-C c.42263A>G p.Y14088C Missense 73/84 - 1
19-8976807-G-A c.42259C>T p.Q14087* Nonsense 73/84 - 2
19-8976814-G-A c.42252C>T p.S14084= Synonymous 73/84 - 4
19-8976817-G-A c.42249C>T p.I14083= Synonymous 73/84 - 5
19-8976817-G-T c.42249C>A p.I14083= Synonymous 73/84 - 2
19-8976819-T-G c.42247A>C p.I14083L Missense 73/84 - 1
19-8976821-G-A c.42245C>T p.T14082I Missense 73/84 - 5
19-8976823-G-A c.42243C>T p.F14081= Synonymous 73/84 - 2
19-8976825-A-C c.42241T>G p.F14081V Missense 73/84 - 2
19-8976825-A-G c.42241T>C p.F14081L Missense 73/84 - 3
19-8976823-G-T c.42243C>A p.F14081L Missense 73/84 - 1
19-8976823-G-C c.42243C>G p.F14081L Missense 73/84 - 1
19-8976841-C-T c.42225G>A p.K14075= Synonymous 73/84 - 2
19-8976844-C-A c.42222G>T p.L14074= Synonymous 73/84 - 4
19-8976844-C-T c.42222G>A p.L14074= Synonymous 73/84 - 5
19-8976844-C-G c.42222G>C p.L14074= Synonymous 73/84 - 4
19-8976846-G-A c.42220C>T p.L14074= Synonymous 73/84 - 4
19-8976855-C-T c.42211G>A p.G14071R Missense 73/84 - 1
19-8976856-C-T c.42210G>A p.M14070I Missense 73/84 - 1
19-8976921-C-G c.42206-61G>C - IntronicSNV - 72/83 3
19-8976921-C-T c.42206-61G>A - IntronicSNV - 72/83 3
19-8977514-A-G c.42205+126T>C - IntronicSNV - 72/83 4
19-8977643-T-C c.42202A>G p.T14068A Missense 72/84 - 6
19-8977652-C-G c.42193G>C p.E14065Q Missense 72/84 - 7
19-8977652-C-T c.42193G>A p.E14065K Missense 72/84 - 1
19-8977664-G-T c.42181C>A p.P14061T Missense 72/84 - 2
19-8977667-G-A c.42178C>T p.L14060= Synonymous 72/84 - 1
19-8977668-G-T c.42177C>A p.F14059L Missense 72/84 - 4
19-8977668-G-A c.42177C>T p.F14059= Synonymous 72/84 - 1
19-8977670-A-G c.42175T>C p.F14059L Missense 72/84 - 3
19-8977668-G-C c.42177C>G p.F14059L Missense 72/84 - 3
19-8977672-G-A c.42173C>T p.T14058I Missense 72/84 - 1
19-8978643-G-A c.42154+574C>T - IntronicSNV - 71/83 1
19-8979112-G-C c.42154+105C>G - IntronicSNV - 71/83 4
19-8979212-C-T c.42154+5G>A - IntronicSNV - 71/83 1
19-8979216-C-A c.42154+1G>T - IntronicSNV - 71/83 1
19-8979221-A-C c.42150T>G p.P14050= Synonymous 71/84 - 2
19-8979221-A-T c.42150T>A p.P14050= Synonymous 71/84 - 2
19-8979221-A-G c.42150T>C p.P14050= Synonymous 71/84 - 2
19-8979223-G-C c.42148C>G p.P14050A Missense 71/84 - 9
19-8979223-G-A c.42148C>T p.P14050S Missense 71/84 - 1
19-8979229-C-T c.42142G>A p.E14048K Missense 71/84 - 1
19-8979230-A-T c.42141T>A p.D14047E Missense 71/84 - 1
19-8979242-T-G c.42129A>C p.E14043D Missense 71/84 - 1
19-8979242-T-A c.42129A>T p.E14043D Missense 71/84 - 1
19-8979244-C-T c.42127G>A p.E14043K Missense 71/84 - 6
19-8981725-C-A c.42118+432G>T - IntronicSNV - 70/83 1
19-8981962-C-A c.42118+195G>T - IntronicSNV - 70/83 1
19-8981962-C-T c.42118+195G>A - IntronicSNV - 70/83 1
19-8982084-C-G c.42118+73G>C - IntronicSNV - 70/83 5
19-8982108-A-T c.42118+49T>A - IntronicSNV - 70/83 1
19-8982110-T-G c.42118+47A>C - IntronicSNV - 70/83 1
19-8982119-G-A c.42118+38C>T - IntronicSNV - 70/83 1
19-8982119-G-C c.42118+38C>G - IntronicSNV - 70/83 1
19-8982121-G-A c.42118+36C>T - IntronicSNV - 70/83 1
19-8982121-G-C c.42118+36C>G - IntronicSNV - 70/83 1
19-8982121-G-T c.42118+36C>A - IntronicSNV - 70/83 1
19-8982117-TG-T c.42118+39del - IntronicDeletion - 70/83 1
19-8982146-T-G c.42118+11A>C - IntronicSNV - 70/83 4
19-8982146-T-C c.42118+11A>G - IntronicSNV - 70/83 3
19-8982148-G-A c.42118+9C>T - IntronicSNV - 70/83 1
19-8982150-T-G c.42118+7A>C - IntronicSNV - 70/83 1
19-8982158-G-A c.42117C>T p.N14039= Synonymous 70/84 - 5
19-8982161-A-G c.42114T>C p.L14038= Synonymous 70/84 - 1
19-8982165-T-A c.42110A>T p.Y14037F Missense 70/84 - 1
19-8982171-C-T c.42104G>A p.S14035N Missense 70/84 - 2
19-8982193-G-T c.42082C>A p.P14028T Missense 70/84 - 3
19-8982195-C-T c.42080G>A p.G14027D Missense 70/84 - 1
19-8982198-A-T c.42077T>A p.L14026Q Missense 70/84 - 2
19-8982205-T-G c.42070A>C p.T14024P Missense 70/84 - 1
19-8982206-G-A c.42069C>T p.I14023= Synonymous 70/84 - 1
19-8982210-C-A c.42065G>T p.G14022V Missense 70/84 - 5
19-8982211-C-T c.42064G>A p.G14022S Missense 70/84 - 5
19-8982212-A-G c.42063T>C p.H14021= Synonymous 70/84 - 2
19-8982212-A-T c.42063T>A p.H14021Q Missense 70/84 - 1
19-8982212-A-C c.42063T>G p.H14021Q Missense 70/84 - 1
19-8982214-G-T c.42061C>A p.H14021N Missense 70/84 - 7
19-8982215-G-A c.42060C>T p.T14020= Synonymous 70/84 - 4
19-8982220-G-A c.42055C>T p.Q14019* Nonsense 70/84 - 1
19-8982221-C-A c.42054G>T p.Q14018H Missense 70/84 - 1
19-8982221-C-G c.42054G>C p.Q14018H Missense 70/84 - 1
19-8982224-G-A c.42051C>T p.S14017= Synonymous 70/84 - 1
19-8982226-T-C c.42049A>G p.S14017G Missense 70/84 - 1
19-8982228-A-T c.42047T>A p.L14016Q Missense 70/84 - 1
19-8982229-G-C c.42046C>G p.L14016V Missense 70/84 - 1
19-8982232-C-T c.42043G>A p.E14015K Missense 70/84 - 1
19-8982234-T-A c.42041A>T p.H14014L Missense 70/84 - 2
19-8982235-G-A c.42040C>T p.H14014Y Missense 70/84 - 4
19-8982236-G-A c.42039C>T p.F14013= Synonymous 70/84 - 1
19-8982241-C-A c.42034G>T p.V14012L Missense 70/84 - 3
19-8982242-C-A c.42033G>T p.Q14011H Missense 70/84 - 1
19-8982242-C-G c.42033G>C p.Q14011H Missense 70/84 - 1
19-8982248-G-C c.42027C>G p.I14009M Missense 70/84 - 2
19-8982253-G-A c.42022C>T p.P14008S Missense 70/84 - 5
19-8982254-C-T c.42021G>A p.L14007= Synonymous 70/84 - 1
19-8982266-G-A c.42009C>T p.S14003= Synonymous 70/84 - 3
19-8982269-G-A c.42006C>T p.L14002= Synonymous 70/84 - 6
19-8982269-G-T c.42006C>A p.L14002= Synonymous 70/84 - 7
19-8982269-G-C c.42006C>G p.L14002= Synonymous 70/84 - 5
19-8982271-G-A c.42004C>T p.L14002F Missense 70/84 - 8
19-8982273-G-A c.42002C>T p.P14001L Missense 70/84 - 2
19-8982275-C-T c.42000G>A p.Q14000= Synonymous 70/84 - 1
19-8982277-G-A c.41998C>T p.Q14000* Nonsense 70/84 - 1
19-8982281-G-A c.41994C>T p.Y13998= Synonymous 70/84 - 1
19-8982296-G-A c.41979C>T p.D13993= Synonymous 70/84 - 4
19-8982298-C-A c.41977G>T p.D13993Y Missense 70/84 - 1
19-8982303-C-T c.41972G>A p.R13991Q Missense 70/84 - 2
19-8982303-C-A c.41972G>T p.R13991L Missense 70/84 - 2
19-8982316-C-A c.41959G>T p.G13987C Missense 70/84 - 4
19-8982316-C-T c.41959G>A p.G13987S Missense 70/84 - 3
19-8982317-G-A c.41958C>T p.N13986= Synonymous 70/84 - 1
19-8982325-C-T c.41950G>A p.V13984M Missense 70/84 - 1
19-8982582-C-T c.41946-253G>A - IntronicSNV - 69/83 1
19-8982603-8982604---TCTTCCTCCTCCTCTTCCTCCTCCTA c.41946-300_41946-275dup - intron_variant - 69/83 1
19-8985268-GAA-G c.41945+1775_41945+1776del - IntronicDeletion - 69/83 1
19-8985643-G-A c.41945+1402C>T - IntronicSNV - 69/83 1
19-8985643-G-C c.41945+1402C>G - IntronicSNV - 69/83 1
19-8986803-C-A c.41945+242G>T - IntronicSNV - 69/83 1
19-8986920-CA-C c.41945+124del - IntronicDeletion - 69/83 2
19-8987058-C-T c.41932G>A p.V13978I Missense 69/84 - 1
19-8987074-C-T c.41916G>A p.R13972= Synonymous 69/84 - 2
19-8987075-C-T c.41915G>A p.R13972Q Missense 69/84 - 5
19-8987082-C-A c.41908G>T p.G13970C Missense 69/84 - 1
19-8987082-C-T c.41908G>A p.G13970S Missense 69/84 - 1
19-8987083-C-T c.41907G>A p.L13969= Synonymous 69/84 - 2
19-8987083-C-A c.41907G>T p.L13969= Synonymous 69/84 - 1
19-8987083-C-G c.41907G>C p.L13969= Synonymous 69/84 - 1
19-8987085-G-A c.41905C>T p.L13969= Synonymous 69/84 - 1
19-8987085-G-T c.41905C>A p.L13969M Missense 69/84 - 1
19-8987093-C-T c.41897G>A p.R13966K Missense 69/84 - 1
19-8987094-T-C c.41896A>G p.R13966G Missense 69/84 - 2
19-8987096-T-A c.41894A>T p.Q13965L Missense 69/84 - 2
19-8987101-C-A c.41889G>T p.L13963F Missense 69/84 - 1
19-8987105-G-A c.41885C>T p.P13962L Missense 69/84 - 2
19-8987105-G-T c.41885C>A p.P13962H Missense 69/84 - 1
19-8987106-G-A c.41884C>T p.P13962S Missense 69/84 - 3
19-8987112-G-A c.41878C>T p.L13960F Missense 69/84 - 1
19-8987133-T-C c.41878-21A>G - IntronicSNV - 68/83 9
19-8987205-C-T c.41877+5G>A - IntronicSNV - 68/83 1
19-8987210-C-T c.41877G>A p.L13959= Synonymous 68/84 - 1
19-8987214-T-G c.41873A>C p.H13958P Missense 68/84 - 1
19-8987216-C-T c.41871G>A p.Q13957= Synonymous 68/84 - 1
19-8987218-G-T c.41869C>A p.Q13957K Missense 68/84 - 28
19-8987224-C-T c.41863G>A p.V13955I Missense 68/84 - 6
19-8987225-G-A c.41862C>T p.N13954= Synonymous 68/84 - 2
19-8987234-G-T c.41853C>A p.I13951= Synonymous 68/84 - 2
19-8987234-G-A c.41853C>T p.I13951= Synonymous 68/84 - 3
19-8987236-T-C c.41851A>G p.I13951V Missense 68/84 - 1
19-8987239-T-C c.41848A>G p.N13950D Missense 68/84 - 1
19-8987242-A-G c.41845T>C p.F13949L Missense 68/84 - 3
19-8987249-G-C c.41838C>G p.S13946= Synonymous 68/84 - 1
19-8987249-G-T c.41838C>A p.S13946= Synonymous 68/84 - 1
19-8987250-G-A c.41837C>T p.S13946F Missense 68/84 - 5
19-8987253-C-A c.41834G>T p.G13945V Missense 68/84 - 1
19-8987254-C-G c.41833G>C p.G13945R Missense 68/84 - 4
19-8987254-C-A c.41833G>T p.G13945C Missense 68/84 - 1
19-8987255-G-A c.41832C>T p.P13944= Synonymous 68/84 - 3
19-8987255-G-C c.41832C>G p.P13944= Synonymous 68/84 - 1
19-8987255-G-T c.41832C>A p.P13944= Synonymous 68/84 - 1
19-8987264-C-T c.41823G>A p.M13941I Missense 68/84 - 2
19-8987271-G-A c.41816C>T p.A13939V Missense 68/84 - 1
19-8987279-G-A c.41808C>T p.R13936= Synonymous 68/84 - 1
19-8987281-G-A c.41806C>T p.R13936C Missense 68/84 - 3
19-8987282-C-T c.41805G>A p.L13935= Synonymous 68/84 - 3
19-8987282-C-A c.41805G>T p.L13935= Synonymous 68/84 - 1
19-8987282-C-G c.41805G>C p.L13935= Synonymous 68/84 - 1
19-8987284-G-A c.41803C>T p.L13935= Synonymous 68/84 - 1
19-8987284-G-T c.41803C>A p.L13935M Missense 68/84 - 4
19-8987288-G-A c.41799C>T p.N13933= Synonymous 68/84 - 1
19-8987295-G-A c.41792C>T p.T13931I Missense 68/84 - 4
19-8987309-G-A c.41778C>T p.F13926= Synonymous 68/84 - 3
19-8987318-C-A c.41769G>T p.E13923D Missense 68/84 - 1
19-8987322-C-T c.41765G>A p.S13922N Missense 68/84 - 5
19-8987328-A-T c.41759T>A p.V13920E Missense 68/84 - 1
19-8987330-C-A c.41757G>T p.G13919= Synonymous 68/84 - 1
19-8987331-C-A c.41756G>T p.G13919V Missense 68/84 - 1
19-8987332-C-A c.41755G>T p.G13919W Missense 68/84 - 3
19-8987332-C-T c.41755G>A p.G13919R Missense 68/84 - 1
19-8987333-G-T c.41754C>A p.T13918= Synonymous 68/84 - 3
19-8987333-G-C c.41754C>G p.T13918= Synonymous 68/84 - 3
19-8987333-G-A c.41754C>T p.T13918= Synonymous 68/84 - 4
19-8987361-A-AGG c.41753-28_41753-27insCC - IntronicInsertion - 67/83 2
19-8987387-T-G c.41753-53A>C - IntronicSNV - 67/83 1
19-8987391-T-G c.41753-57A>C - IntronicSNV - 67/83 1
19-8987403-T-G c.41753-69A>C - IntronicSNV - 67/83 1
19-8987409-A-G c.41753-75T>C - IntronicSNV - 67/83 1
19-8990761-C-A c.41752+2246G>T - IntronicSNV - 67/83 2
19-8991200-G-A c.41752+1807C>T - IntronicSNV - 67/83 1
19-8991200-G-C c.41752+1807C>G - IntronicSNV - 67/83 1
19-8992141-C-A c.41752+866G>T - IntronicSNV - 67/83 1
19-8992420-A-C c.41752+587T>G - IntronicSNV - 67/83 1
19-8992420-A-T c.41752+587T>A - IntronicSNV - 67/83 1
19-8992967-T-G c.41752+40A>C - IntronicSNV - 67/83 1
19-8992968-GTA-G c.41752+37_41752+38del - IntronicDeletion - 67/83 1
19-8992971-T-G c.41752+36A>C - IntronicSNV - 67/83 1
19-8992980-GCT-G c.41752+26_41752+27del - IntronicDeletion - 67/83 1
19-8992980-C-G c.41752+27G>C - IntronicSNV - 67/83 1
19-8992988-G-A c.41752+19C>T - IntronicSNV - 67/83 2
19-8992986-GAGC-G c.41752+18_41752+20del - IntronicDeletion - 67/83 1
19-8992993-G-A c.41752+14C>T - IntronicSNV - 67/83 3
19-8992993-G-C c.41752+14C>G - IntronicSNV - 67/83 2
19-8992993-G-T c.41752+14C>A - IntronicSNV - 67/83 2
19-8992996-T-A c.41752+11A>T - IntronicSNV - 67/83 1
19-8992996-TTG-T c.41752+10_41752+11del - IntronicDeletion - 67/83 1
19-8992997-G-A c.41752+10C>T - IntronicSNV - 67/83 1
19-8993007-T-C c.41752A>G p.T13918A Missense 67/84 - 5
19-8993008-G-A c.41751C>T p.S13917= Synonymous 67/84 - 4
19-8993008-G-C c.41751C>G p.S13917R Missense 67/84 - 3
19-8993012-G-A c.41747C>T p.T13916I Missense 67/84 - 1
19-8993014-G-A c.41745C>T p.T13915= Synonymous 67/84 - 4
19-8993015-G-A c.41744C>T p.T13915I Missense 67/84 - 1
19-8993013-T-TG c.41745dup p.T13916Hfs*74 Frameshift 67/84 - 1
19-8993017-G-T c.41742C>A p.P13914= Synonymous 67/84 - 8
19-8993017-G-A c.41742C>T p.P13914= Synonymous 67/84 - 6
19-8993017-G-C c.41742C>G p.P13914= Synonymous 67/84 - 6
19-8993018-G-A c.41741C>T p.P13914L Missense 67/84 - 11
19-8993020-T-C c.41739A>G p.V13913= Synonymous 67/84 - 3
19-8993020-T-G c.41739A>C p.V13913= Synonymous 67/84 - 1
19-8993020-T-A c.41739A>T p.V13913= Synonymous 67/84 - 1
19-8993024-G-T c.41735C>A p.S13912Y Missense 67/84 - 2
19-8993024-G-A c.41735C>T p.S13912F Missense 67/84 - 1
19-8993025-A-G c.41734T>C p.S13912P Missense 67/84 - 2
19-8993026-G-C c.41733C>G p.S13911R Missense 67/84 - 1
19-8993026-G-T c.41733C>A p.S13911R Missense 67/84 - 1
19-8993028-T-G c.41731A>C p.S13911R Missense 67/84 - 1
19-8993026-G-A c.41733C>T p.S13911= Synonymous 67/84 - 1
19-8993027-C-T c.41732G>A p.S13911N Missense 67/84 - 1
19-8993028-T-A c.41731A>T p.S13911C Missense 67/84 - 1
19-8993030-C-T c.41729G>A p.R13910Q Missense 67/84 - 2
19-8993031-G-A c.41728C>T p.R13910W Missense 67/84 - 2
19-8993033-T-G c.41726A>C p.H13909P Missense 67/84 - 5
19-8993035-G-A c.41724C>T p.T13908= Synonymous 67/84 - 2
19-8993035-G-T c.41724C>A p.T13908= Synonymous 67/84 - 1
19-8993035-G-C c.41724C>G p.T13908= Synonymous 67/84 - 1
19-8993036-G-T c.41723C>A p.T13908N Missense 67/84 - 5
19-8993038-G-A c.41721C>T p.F13907= Synonymous 67/84 - 5
19-8993041-A-G c.41718T>C p.G13906= Synonymous 67/84 - 2
19-8993041-A-C c.41718T>G p.G13906= Synonymous 67/84 - 1
19-8993041-A-T c.41718T>A p.G13906= Synonymous 67/84 - 1
19-8993048-C-A c.41717-6G>T - IntronicSNV - 66/83 2
19-8993048-C-G c.41717-6G>C - IntronicSNV - 66/83 2
19-8993048-C-T c.41717-6G>A - IntronicSNV - 66/83 2
19-8993054-A-G c.41717-12T>C - IntronicSNV - 66/83 1
19-8993125-G-A c.41717-83C>T - IntronicSNV - 66/83 1
19-8993125-G-C c.41717-83C>G - IntronicSNV - 66/83 1
19-8993148-A-C c.41717-106T>G - IntronicSNV - 66/83 1
19-8993165-C-T c.41717-123G>A - IntronicSNV - 66/83 1
19-8993174-T-C c.41717-132A>G - IntronicSNV - 66/83 1
19-8993174-T-G c.41717-132A>C - IntronicSNV - 66/83 1
19-8993182-G-C c.41717-140C>G - IntronicSNV - 66/83 1
19-8993182-G-T c.41717-140C>A - IntronicSNV - 66/83 1
19-8993209-A-G c.41716+164T>C - IntronicSNV - 66/83 1
19-8993226-G-A c.41716+147C>T - IntronicSNV - 66/83 2
19-8993230-C-A c.41716+143G>T - IntronicSNV - 66/83 2
19-8993231-T-C c.41716+142A>G - IntronicSNV - 66/83 1
19-8993236-A-T c.41716+137T>A - IntronicSNV - 66/83 1
19-8993241-A-T c.41716+132T>A - IntronicSNV - 66/83 1
19-8993240-CAG-C c.41716+131_41716+132del - IntronicDeletion - 66/83 1
19-8993249-G-A c.41716+124C>T - IntronicSNV - 66/83 2
19-8993270-A-G c.41716+103T>C - IntronicSNV - 66/83 2
19-8993279-G-T c.41716+94C>A - IntronicSNV - 66/83 1
19-8993284-T-C c.41716+89A>G - IntronicSNV - 66/83 1
19-8993286-G-T c.41716+87C>A - IntronicSNV - 66/83 1
19-8993311-T-C c.41716+62A>G - IntronicSNV - 66/83 1
19-8993315-A-G c.41716+58T>C - IntronicSNV - 66/83 1
19-8993366-C-G c.41716+7G>C - IntronicSNV - 66/83 1
19-8993366-C-T c.41716+7G>A - IntronicSNV - 66/83 1
19-8993364-GCCGCTCA-G c.41716+2_41716+8del - IntronicDeletion 66/84 66/83 1
19-8993367-G-A c.41716+6C>T - IntronicSNV - 66/83 2
19-8993375-T-C c.41714A>G p.N13905S Missense 66/84 - 2
19-8993377-G-T c.41712C>A p.V13904= Synonymous 66/84 - 1
19-8993377-G-C c.41712C>G p.V13904= Synonymous 66/84 - 1
19-8993377-G-A c.41712C>T p.V13904= Synonymous 66/84 - 1
19-8993383-G-A c.41706C>T p.L13902= Synonymous 66/84 - 2
19-8993383-G-C c.41706C>G p.L13902= Synonymous 66/84 - 2
19-8993383-G-T c.41706C>A p.L13902= Synonymous 66/84 - 1
19-8993385-G-A c.41704C>T p.L13902F Missense 66/84 - 4
19-8993389-G-C c.41700C>G p.D13900E Missense 66/84 - 1
19-8993391-C-T c.41698G>A p.D13900N Missense 66/84 - 5
19-8993391-C-A c.41698G>T p.D13900Y Missense 66/84 - 1
19-8993392-C-T c.41697G>A p.R13899= Synonymous 66/84 - 4
19-8993393-C-A c.41696G>T p.R13899M Missense 66/84 - 1
19-8993395-G-T c.41694C>A p.D13898E Missense 66/84 - 1
19-8993398-C-T c.41691G>A p.L13897= Synonymous 66/84 - 6
19-8993401-T-C c.41688A>G p.T13896= Synonymous 66/84 - 2
19-8993401-T-A c.41688A>T p.T13896= Synonymous 66/84 - 2
19-8993401-T-G c.41688A>C p.T13896= Synonymous 66/84 - 2
19-8993401-TG-GC c.41687_41688delinsGC p.T13896S Missense 66/84 - 1
19-8993402-G-C c.41687C>G p.T13896R Missense 66/84 - 4
19-8993403-T-A c.41686A>T p.T13896S Missense 66/84 - 1
19-8993411-C-A c.41678G>T p.G13893V Missense 66/84 - 1
19-8993412-C-T c.41677G>A p.G13893S Missense 66/84 - 2
19-8993416-C-G c.41673G>C p.E13891D Missense 66/84 - 1
19-8993416-C-A c.41673G>T p.E13891D Missense 66/84 - 1
19-8993422-G-T c.41667C>A p.I13889= Synonymous 66/84 - 1
19-8993422-G-A c.41667C>T p.I13889= Synonymous 66/84 - 1
19-8993425-G-C c.41664C>G p.S13888R Missense 66/84 - 2
19-8993425-G-T c.41664C>A p.S13888R Missense 66/84 - 2
19-8993427-T-G c.41662A>C p.S13888R Missense 66/84 - 2
19-8993426-C-T c.41663G>A p.S13888N Missense 66/84 - 8
19-8993427-T-C c.41662A>G p.S13888G Missense 66/84 - 1
19-8993431-G-T c.41658C>A p.T13886= Synonymous 66/84 - 1
19-8993431-G-C c.41658C>G p.T13886= Synonymous 66/84 - 1
19-8993431-G-A c.41658C>T p.T13886= Synonymous 66/84 - 2
19-8993434-C-A c.41655G>T p.L13885= Synonymous 66/84 - 2
19-8993434-C-T c.41655G>A p.L13885= Synonymous 66/84 - 1
19-8993434-C-G c.41655G>C p.L13885= Synonymous 66/84 - 1
19-8993436-G-T c.41653C>A p.L13885M Missense 66/84 - 9
19-8993436-G-A c.41653C>T p.L13885= Synonymous 66/84 - 3
19-8993440-G-A c.41649C>T p.S13883= Synonymous 66/84 - 2
19-8993443-C-T c.41646G>A p.L13882= Synonymous 66/84 - 6
19-8993443-C-A c.41646G>T p.L13882= Synonymous 66/84 - 3
19-8993443-C-G c.41646G>C p.L13882= Synonymous 66/84 - 1
19-8993445-G-A c.41644C>T p.L13882= Synonymous 66/84 - 1
19-8993448-C-T c.41641G>A p.E13881K Missense 66/84 - 2
19-8993449-C-G c.41640G>C p.L13880F Missense 66/84 - 1
19-8993449-CA-GC c.41639_41640delinsGC p.L13880C Missense 66/84 - 1
19-8993450-A-C c.41639T>G p.L13880W Missense 66/84 - 7
19-8993452-A-G c.41637T>C p.Y13879= Synonymous 66/84 - 2
19-8993453-T-C c.41636A>G p.Y13879C Missense 66/84 - 1
19-8993454-A-G c.41635T>C p.Y13879H Missense 66/84 - 1
19-8993458-C-T c.41631G>A p.Q13877= Synonymous 66/84 - 1
19-8993460-G-T c.41629C>A p.Q13877K Missense 66/84 - 3
19-8993463-C-T c.41626G>A p.E13876K Missense 66/84 - 2
19-8993464-T-G c.41625A>C p.R13875S Missense 66/84 - 1
19-8993465-C-T c.41624G>A p.R13875K Missense 66/84 - 5
19-8993465-C-G c.41624G>C p.R13875T Missense 66/84 - 1
19-8993469-C-A c.41620G>T p.D13874Y Missense 66/84 - 2
19-8993469-C-T c.41620G>A p.D13874N Missense 66/84 - 1
19-8993474-C-A c.41615G>T p.G13872V Missense 66/84 - 1
19-8993477-G-A c.41612C>T p.P13871L Missense 66/84 - 2
19-8993478-G-A c.41611C>T p.P13871S Missense 66/84 - 2
19-8993478-G-C c.41611C>G p.P13871A Missense 66/84 - 1
19-8993479-G-A c.41610C>T p.G13870= Synonymous 66/84 - 4
19-8993479-G-C c.41610C>G p.G13870= Synonymous 66/84 - 2
19-8993479-G-T c.41610C>A p.G13870= Synonymous 66/84 - 2
19-8993481-C-T c.41608G>A p.G13870S Missense 66/84 - 1
19-8993483-G-T c.41606C>A p.T13869K Missense 66/84 - 1
19-8993486-G-C c.41603C>G p.P13868R Missense 66/84 - 1
19-8993486-G-A c.41603C>T p.P13868L Missense 66/84 - 3
19-8993488-G-A c.41601C>T p.D13867= Synonymous 66/84 - 2
19-8993489-T-G c.41600A>C p.D13867A Missense 66/84 - 1
19-8993490-C-T c.41599G>A p.D13867N Missense 66/84 - 1
19-8993490-C-A c.41599G>T p.D13867Y Missense 66/84 - 1
19-8993492-G-T c.41597C>A p.P13866H Missense 66/84 - 4
19-8993493-G-T c.41596C>A p.P13866T Missense 66/84 - 2
19-8993494-G-T c.41595C>A p.R13865= Synonymous 66/84 - 1
19-8993495-C-T c.41594G>A p.R13865H Missense 66/84 - 5
19-8993495-C-A c.41594G>T p.R13865L Missense 66/84 - 1
19-8993496-G-A c.41593C>T p.R13865C Missense 66/84 - 7
19-8993499-G-T c.41590C>A p.H13864N Missense 66/84 - 1
19-8993499-G-A c.41590C>T p.H13864Y Missense 66/84 - 2
19-8993501-G-A c.41588C>T p.T13863I Missense 66/84 - 1
19-8993502-T-G c.41587A>C p.T13863P Missense 66/84 - 1
19-8993503-G-T c.41586C>A p.C13862* Nonsense 66/84 - 4
19-8993504-C-A c.41585G>T p.C13862F Missense 66/84 - 1
19-8993505-A-C c.41584T>G p.C13862G Missense 66/84 - 1
19-8993505-A-T c.41584T>A p.C13862S Missense 66/84 - 1
19-8993508-T-C c.41581A>G p.I13861V Missense 66/84 - 1
19-8993509-G-T c.41580C>A p.A13860= Synonymous 66/84 - 1
19-8993509-G-C c.41580C>G p.A13860= Synonymous 66/84 - 1
19-8993509-G-A c.41580C>T p.A13860= Synonymous 66/84 - 1
19-8993510-G-T c.41579C>A p.A13860D Missense 66/84 - 1
19-8993510-G-C c.41579C>G p.A13860G Missense 66/84 - 1
19-8993514-C-A c.41575G>T p.D13859Y Missense 66/84 - 4
19-8993514-C-T c.41575G>A p.D13859N Missense 66/84 - 2
19-8993517-C-T c.41572G>A p.V13858M Missense 66/84 - 3
19-8993520-C-T c.41569G>A p.G13857R Missense 66/84 - 6
19-8993520-C-G c.41569G>C p.G13857R Missense 66/84 - 3
19-8993521-G-A c.41568C>T p.T13856= Synonymous 66/84 - 6
19-8993521-G-T c.41568C>A p.T13856= Synonymous 66/84 - 5
19-8993521-G-C c.41568C>G p.T13856= Synonymous 66/84 - 2
19-8993522-G-A c.41567C>T p.T13856I Missense 66/84 - 2
19-8993524-G-T c.41565C>A p.A13855= Synonymous 66/84 - 3
19-8993524-G-C c.41565C>G p.A13855= Synonymous 66/84 - 2
19-8993524-G-A c.41565C>T p.A13855= Synonymous 66/84 - 2
19-8993528-T-G c.41561A>C p.E13854A Missense 66/84 - 3
19-8993529-C-A c.41560G>T p.E13854* Nonsense 66/84 - 1
19-8993529-C-T c.41560G>A p.E13854K Missense 66/84 - 3
19-8993535-C-T c.41554G>A p.D13852N Missense 66/84 - 3
19-8993536-T-C c.41553A>G p.K13851= Synonymous 66/84 - 3
19-8993539-C-T c.41550G>A p.E13850= Synonymous 66/84 - 1
19-8993541-C-A c.41548G>T p.E13850* Nonsense 66/84 - 1
19-8993541-C-G c.41548G>C p.E13850Q Missense 66/84 - 1
19-8993542-T-G c.41547A>C p.P13849= Synonymous 66/84 - 3
19-8993542-T-C c.41547A>G p.P13849= Synonymous 66/84 - 3
19-8993542-T-A c.41547A>T p.P13849= Synonymous 66/84 - 2
19-8993548-A-G c.41544-3T>C - IntronicSNV - 65/83 1
19-8993559-A-G c.41544-14T>C - IntronicSNV - 65/83 1
19-8993565-G-A c.41544-20C>T - IntronicSNV - 65/83 1
19-8993567-G-A c.41544-22C>T - IntronicSNV - 65/83 1
19-8994089-C-T c.41543+53G>A - IntronicSNV - 65/83 1
19-8994092-T-G c.41543+50A>C - IntronicSNV - 65/83 1
19-8994104-C-A c.41543+38G>T - IntronicSNV - 65/83 3
19-8994104-C-T c.41543+38G>A - IntronicSNV - 65/83 4
19-8994112-GGT-G c.41543+29_41543+30del - IntronicDeletion - 65/83 1
19-8994113-T-C c.41543+29A>G - IntronicSNV - 65/83 8
19-8994113-T-A c.41543+29A>T - IntronicSNV - 65/83 6
19-8994153-C-T c.41532G>A p.L13844= Synonymous 65/84 - 2
19-8994153-C-A c.41532G>T p.L13844= Synonymous 65/84 - 1
19-8994153-C-G c.41532G>C p.L13844= Synonymous 65/84 - 1
19-8994155-G-A c.41530C>T p.L13844= Synonymous 65/84 - 1
19-8994156-C-G c.41529G>C p.R13843S Missense 65/84 - 2
19-8994156-C-A c.41529G>T p.R13843S Missense 65/84 - 2
19-8994156-C-T c.41529G>A p.R13843= Synonymous 65/84 - 1
19-8994158-T-G c.41527A>C p.R13843= Synonymous 65/84 - 1
19-8994157-C-T c.41528G>A p.R13843K Missense 65/84 - 4
19-8994159-G-T c.41526C>A p.C13842* Nonsense 65/84 - 4
19-8994162-G-A c.41523C>T p.G13841= Synonymous 65/84 - 1
19-8994162-G-C c.41523C>G p.G13841= Synonymous 65/84 - 1
19-8994162-G-T c.41523C>A p.G13841= Synonymous 65/84 - 2
19-8994173-G-A c.41512C>T p.L13838= Synonymous 65/84 - 1
19-8994178-C-T c.41507G>A p.G13836D Missense 65/84 - 1
19-8994178-C-A c.41507G>T p.G13836V Missense 65/84 - 2
19-8994179-C-T c.41506G>A p.G13836S Missense 65/84 - 1
19-8994180-A-T c.41505T>A p.V13835= Synonymous 65/84 - 2
19-8994180-A-G c.41505T>C p.V13835= Synonymous 65/84 - 2
19-8994180-A-C c.41505T>G p.V13835= Synonymous 65/84 - 2
19-8994182-C-T c.41503G>A p.V13835I Missense 65/84 - 2
19-8994184-C-T c.41501G>A p.S13834N Missense 65/84 - 1
19-8994188-T-G c.41497A>C p.T13833P Missense 65/84 - 1
19-8994189-G-A c.41496C>T p.N13832= Synonymous 65/84 - 2
19-8994192-C-A c.41493G>T p.K13831N Missense 65/84 - 5
19-8994192-C-G c.41493G>C p.K13831N Missense 65/84 - 1
19-8994195-G-A c.41490C>T p.F13830= Synonymous 65/84 - 3
19-8994203-G-A c.41482C>T p.P13828S Missense 65/84 - 2
19-8994207-T-G c.41478A>C p.L13826= Synonymous 65/84 - 1
19-8994222-A-C c.41476-13T>G - IntronicSNV - 64/83 1
19-8994222-A-G c.41476-13T>C - IntronicSNV - 64/83 1
19-8994285-T-A c.41476-76A>T - IntronicSNV - 64/83 6
19-8994285-T-G c.41476-76A>C - IntronicSNV - 64/83 6
19-8994346-C-T c.41475+71G>A - IntronicSNV - 64/83 1
19-8994373-A-G c.41475+44T>C - IntronicSNV - 64/83 8
19-8994373-A-T c.41475+44T>A - IntronicSNV - 64/83 6
19-8994416-C-T c.41475+1G>A - IntronicSNV - 64/83 2
19-8994420-G-A c.41472C>T p.G13824= Synonymous 64/84 - 1
19-8994420-G-C c.41472C>G p.G13824= Synonymous 64/84 - 1
19-8994420-G-T c.41472C>A p.G13824= Synonymous 64/84 - 2
19-8994423-C-A c.41469G>T p.Q13823H Missense 64/84 - 2
19-8994423-C-G c.41469G>C p.Q13823H Missense 64/84 - 1
19-8994424-T-C c.41468A>G p.Q13823R Missense 64/84 - 5
19-8994427-A-G c.41465T>C p.L13822P Missense 64/84 - 1
19-8994429-G-A c.41463C>T p.V13821= Synonymous 64/84 - 4
19-8994431-C-T c.41461G>A p.V13821I Missense 64/84 - 1
19-8994432-C-T c.41460G>A p.R13820= Synonymous 64/84 - 1
19-8994434-T-G c.41458A>C p.R13820= Synonymous 64/84 - 1
19-8994437-C-T c.41455G>A p.E13819K Missense 64/84 - 5
19-8994444-G-T c.41448C>A p.N13816K Missense 64/84 - 1
19-8994453-C-T c.41439G>A p.R13813= Synonymous 64/84 - 2
19-8994455-T-C c.41437A>G p.R13813G Missense 64/84 - 2
19-8994463-G-T c.41429C>A p.P13810H Missense 64/84 - 1
19-8994464-G-A c.41428C>T p.P13810S Missense 64/84 - 1
19-8994476-C-T c.41416G>A p.E13806K Missense 64/84 - 7
19-8994479-C-T c.41413G>A p.E13805K Missense 64/84 - 4
19-8994484-C-T c.41408G>A p.R13803Q Missense 64/84 - 3
19-8994484-C-A c.41408G>T p.R13803L Missense 64/84 - 2
19-8994484-C-G c.41408G>C p.R13803P Missense 64/84 - 1
19-8994485-G-A c.41407C>T p.R13803W Missense 64/84 - 5
19-8994489-G-A c.41403C>T p.N13801= Synonymous 64/84 - 4
19-8994500-T-C c.41392A>G p.T13798A Missense 64/84 - 4
19-8994501-G-A c.41391C>T p.F13797= Synonymous 64/84 - 6
19-8994510-G-A c.41382C>T p.T13794= Synonymous 64/84 - 4
19-8994513-G-A c.41379C>T p.F13793= Synonymous 64/84 - 4
19-8994516-T-C c.41376A>G p.L13792= Synonymous 64/84 - 1
19-8994517-A-G c.41375T>C p.L13792P Missense 64/84 - 1
19-8994522-C-T c.41370G>A p.L13790= Synonymous 64/84 - 5
19-8994525-G-A c.41367C>T p.L13789= Synonymous 64/84 - 4
19-8994527-G-C c.41365C>G p.L13789V Missense 64/84 - 3
19-8994531-G-A c.41361C>T p.S13787= Synonymous 64/84 - 3
19-8994784-C-T c.41354-246G>A - IntronicSNV - 63/83 2
19-8995534-G-C c.41353+101C>G - IntronicSNV - 63/83 1
19-8995537-A-G c.41353+98T>C - IntronicSNV - 63/83 1
19-8995568-G-C c.41353+67C>G - IntronicSNV - 63/83 1
19-8995575-A-G c.41353+60T>C - IntronicSNV - 63/83 1
19-8995587-A-G c.41353+48T>C - IntronicSNV - 63/83 1
19-8995591-T-G c.41353+44A>C - IntronicSNV - 63/83 1
19-8995593-CA-C c.41353+42del - IntronicDeletion - 63/83 1
19-8995597-T-G c.41353+38A>C - IntronicSNV - 63/83 1
19-8995602-A-G c.41353+33T>C - IntronicSNV - 63/83 1
19-8995602-TAC-T c.41353+32_41353+33del - IntronicDeletion - 63/83 1
19-8995609-T-C c.41353+26A>G - IntronicSNV - 63/83 1
19-8995619-A-T c.41353+16T>A - IntronicSNV - 63/83 1
19-8995627-G-A c.41353+8C>T - IntronicSNV - 63/83 1
19-8995629-A-G c.41353+6T>C - IntronicSNV - 63/83 1
19-8995632-T-C c.41353+3A>G - IntronicSNV - 63/83 1
19-8995634-C-T c.41353+1G>A - IntronicSNV - 63/83 1
19-8995635-C-T c.41353G>A p.A13785T Missense 63/84 - 1
19-8995638-A-T c.41350T>A p.S13784T Missense 63/84 - 1
19-8995640-G-A c.41348C>T p.P13783L Missense 63/84 - 5
19-8995640-G-T c.41348C>A p.P13783H Missense 63/84 - 1
19-8995642-G-A c.41346C>T p.G13782= Synonymous 63/84 - 1
19-8995644-C-A c.41344G>T p.G13782C Missense 63/84 - 1
19-8995645-A-G c.41343T>C p.F13781= Synonymous 63/84 - 2
19-8995646-A-G c.41342T>C p.F13781S Missense 63/84 - 1
19-8995647-A-G c.41341T>C p.F13781L Missense 63/84 - 1
19-8995649-A-G c.41339T>C p.I13780T Missense 63/84 - 1
19-8995650-T-G c.41338A>C p.I13780L Missense 63/84 - 1
19-8995651-C-T c.41337G>A p.S13779= Synonymous 63/84 - 8
19-8995652-G-A c.41336C>T p.S13779L Missense 63/84 - 6
19-8995652-G-C c.41336C>G p.S13779W Missense 63/84 - 2
19-8995654-G-A c.41334C>T p.A13778= Synonymous 63/84 - 3
19-8995656-C-T c.41332G>A p.A13778T Missense 63/84 - 1
19-8995656-C-A c.41332G>T p.A13778S Missense 63/84 - 1
19-8995663-C-T c.41325G>A p.K13775= Synonymous 63/84 - 5
19-8995664-T-A c.41324A>T p.K13775M Missense 63/84 - 1
19-8995664-T-C c.41324A>G p.K13775R Missense 63/84 - 1
19-8995665-T-C c.41323A>G p.K13775E Missense 63/84 - 1
19-8995667-G-C c.41321C>G p.S13774C Missense 63/84 - 1
19-8995669-T-G c.41319A>C p.A13773= Synonymous 63/84 - 1
19-8995671-C-T c.41317G>A p.A13773T Missense 63/84 - 1
19-8995673-C-T c.41315G>A p.G13772E Missense 63/84 - 1
19-8995678-A-G c.41310T>C p.Y13770= Synonymous 63/84 - 1
19-8995680-A-G c.41308T>C p.Y13770H Missense 63/84 - 1
19-8995689-G-A c.41299C>T p.P13767S Missense 63/84 - 1
19-8995693-C-T c.41295G>A p.G13765= Synonymous 63/84 - 5
19-8995694-C-T c.41294G>A p.G13765E Missense 63/84 - 1
19-8995697-G-A c.41291C>T p.P13764L Missense 63/84 - 2
19-8995698-G-A c.41290C>T p.P13764S Missense 63/84 - 1
19-8995771-A-G c.41288-71T>C - IntronicSNV - 62/83 1
19-8995853-T-C c.41287+101A>G - IntronicSNV - 62/83 5
19-8995944-G-A c.41287+10C>T - IntronicSNV - 62/83 1
19-8995947-T-C c.41287+7A>G - IntronicSNV - 62/83 1
19-8995955-G-A c.41286C>T p.S13762= Synonymous 62/84 - 1
19-8995958-G-T c.41283C>A p.T13761= Synonymous 62/84 - 1
19-8995959-G-A c.41282C>T p.T13761I Missense 62/84 - 2
19-8995964-G-A c.41277C>T p.S13759= Synonymous 62/84 - 6
19-8995964-G-C c.41277C>G p.S13759= Synonymous 62/84 - 1
19-8995964-G-T c.41277C>A p.S13759= Synonymous 62/84 - 1
19-8995966-A-G c.41275T>C p.S13759P Missense 62/84 - 2
19-8995971-G-A c.41270C>T p.S13757F Missense 62/84 - 2
19-8995976-C-G c.41265G>C p.R13755= Synonymous 62/84 - 4
19-8995977-C-T c.41264G>A p.R13755Q Missense 62/84 - 5
19-8995978-G-A c.41263C>T p.R13755W Missense 62/84 - 2
19-8995985-G-A c.41256C>T p.F13752= Synonymous 62/84 - 2
19-8996019-A-C c.41252-30T>G - IntronicSNV - 61/83 5
19-8996019-A-G c.41252-30T>C - IntronicSNV - 61/83 5
19-8996019-A-T c.41252-30T>A - IntronicSNV - 61/83 5
19-8996182-C-T c.41251+139G>A - IntronicSNV - 61/83 4
19-8996182-C-G c.41251+139G>C - IntronicSNV - 61/83 3
19-8996321-C-A c.41251G>T p.G13751C Missense 61/84 - 1
19-8996329-A-G c.41243T>C p.F13748S Missense 61/84 - 2
19-8996331-G-C c.41241C>G p.L13747= Synonymous 61/84 - 3
19-8996331-G-A c.41241C>T p.L13747= Synonymous 61/84 - 1
19-8996331-G-T c.41241C>A p.L13747= Synonymous 61/84 - 1
19-8996333-G-A c.41239C>T p.L13747F Missense 61/84 - 3
19-8996336-T-A c.41236A>T p.S13746C Missense 61/84 - 1
19-8996339-C-T c.41233G>A p.D13745N Missense 61/84 - 6
19-8996339-C-A c.41233G>T p.D13745Y Missense 61/84 - 1
19-8996340-G-A c.41232C>T p.N13744= Synonymous 61/84 - 5
19-8996345-C-T c.41227G>A p.D13743N Missense 61/84 - 1
19-8996348-G-A c.41224C>T p.L13742= Synonymous 61/84 - 1
19-8996350-G-A c.41222C>T p.A13741V Missense 61/84 - 3
19-8996351-C-T c.41221G>A p.A13741T Missense 61/84 - 1
19-8996356-G-A c.41216C>T p.P13739L Missense 61/84 - 1
19-8996360-C-T c.41212G>A p.G13738S Missense 61/84 - 4
19-8996373-A-G c.41199T>C p.N13733= Synonymous 61/84 - 2
19-8996389-C-A c.41183G>T p.S13728I Missense 61/84 - 2
19-8996391-C-A c.41181G>T p.L13727= Synonymous 61/84 - 1
19-8996391-C-T c.41181G>A p.L13727= Synonymous 61/84 - 1
19-8996391-C-G c.41181G>C p.L13727= Synonymous 61/84 - 1
19-8996393-G-A c.41179C>T p.L13727= Synonymous 61/84 - 1
19-8996396-C-G c.41176G>C p.E13726Q Missense 61/84 - 4
19-8996396-C-T c.41176G>A p.E13726K Missense 61/84 - 3
19-8996396-C-A c.41176G>T p.E13726* Nonsense 61/84 - 1
19-8996397-C-A c.41175G>T p.W13725C Missense 61/84 - 1
19-8996397-C-G c.41175G>C p.W13725C Missense 61/84 - 1
19-8996398-C-A c.41174G>T p.W13725L Missense 61/84 - 1
19-8996400-A-G c.41172T>C p.Y13724= Synonymous 61/84 - 1
19-8996403-C-A c.41169G>T p.L13723= Synonymous 61/84 - 3
19-8996403-C-T c.41169G>A p.L13723= Synonymous 61/84 - 1
19-8996403-C-G c.41169G>C p.L13723= Synonymous 61/84 - 1
19-8996405-G-A c.41167C>T p.L13723= Synonymous 61/84 - 1
19-8996408-G-C c.41164C>G p.Q13722E Missense 61/84 - 3
19-8996413-C-G c.41159G>C p.R13720T Missense 61/84 - 1
19-8996414-T-A c.41158A>T p.R13720* Nonsense 61/84 - 1
19-8996417-C-A c.41155G>T p.D13719Y Missense 61/84 - 1
19-8996417-C-T c.41155G>A p.D13719N Missense 61/84 - 2
19-8996423-T-C c.41149A>G p.R13717G Missense 61/84 - 2
19-8996427-G-C c.41145C>G p.S13715R Missense 61/84 - 3
19-8996427-G-T c.41145C>A p.S13715R Missense 61/84 - 2
19-8996429-T-G c.41143A>C p.S13715R Missense 61/84 - 2
19-8996427-G-A c.41145C>T p.S13715= Synonymous 61/84 - 1
19-8996428-C-A c.41144G>T p.S13715I Missense 61/84 - 2
19-8996428-C-T c.41144G>A p.S13715N Missense 61/84 - 1
19-8996435-G-A c.41137C>T p.P13713S Missense 61/84 - 1
19-8996436-G-A c.41136C>T p.D13712= Synonymous 61/84 - 2
19-8996436-G-T c.41136C>A p.D13712E Missense 61/84 - 1
19-8996437-T-G c.41135A>C p.D13712A Missense 61/84 - 1
19-8996438-C-T c.41134G>A p.D13712N Missense 61/84 - 1
19-8996440-G-C c.41132C>G p.P13711R Missense 61/84 - 1
19-8996443-T-C c.41129A>G p.H13710R Missense 61/84 - 1
19-8996444-G-A c.41128C>T p.H13710Y Missense 61/84 - 3
19-8996451-G-A c.41121C>T p.C13707= Synonymous 61/84 - 3
19-8996452-C-A c.41120G>T p.C13707F Missense 61/84 - 4
19-8996454-G-T c.41118C>A p.I13706= Synonymous 61/84 - 3
19-8996454-G-A c.41118C>T p.I13706= Synonymous 61/84 - 2
19-8996458-G-T c.41114C>A p.A13705D Missense 61/84 - 2
19-8996458-G-C c.41114C>G p.A13705G Missense 61/84 - 2
19-8996458-GC-TT c.41113_41114delinsAA p.A13705N Missense 61/84 - 1
19-8996459-C-T c.41113G>A p.A13705T Missense 61/84 - 3
19-8996461-T-G c.41111A>C p.D13704A Missense 61/84 - 1
19-8996467-C-T c.41105G>A p.G13702E Missense 61/84 - 3
19-8996472-G-T c.41100C>A p.A13700= Synonymous 61/84 - 1
19-8996473-G-A c.41099C>T p.A13700V Missense 61/84 - 2
19-8996474-C-T c.41098G>A p.A13700T Missense 61/84 - 5
19-8996476-G-T c.41096C>A p.T13699K Missense 61/84 - 1
19-8996477-T-A c.41095A>T p.T13699S Missense 61/84 - 1
19-8996478-C-T c.41094G>A p.G13698= Synonymous 61/84 - 2
19-8996480-C-T c.41092G>A p.G13698R Missense 61/84 - 2
19-8996480-C-G c.41092G>C p.G13698R Missense 61/84 - 2
19-8996484-C-G c.41088G>C p.K13696N Missense 61/84 - 1
19-8996487-T-G c.41085A>C p.E13695D Missense 61/84 - 4
19-8996487-T-A c.41085A>T p.E13695D Missense 61/84 - 1
19-8996489-C-T c.41083G>A p.E13695K Missense 61/84 - 6
19-8996490-A-G c.41082T>C p.P13694= Synonymous 61/84 - 1
19-8996695-A-C c.41079-202T>G - IntronicSNV - 60/83 1
19-8997045-A-G c.41078+73T>C - IntronicSNV - 60/83 1
19-8997046-GAA-G c.41078+70_41078+71del - IntronicDeletion - 60/83 1
19-8997050-AAAG-A c.41078+65_41078+67del - IntronicDeletion - 60/83 1
19-8997061-C-A c.41078+57G>T - IntronicSNV - 60/83 1
19-8997066-A-T c.41078+52T>A - IntronicSNV - 60/83 1
19-8997070-GA-G c.41078+48del - IntronicDeletion - 60/83 1
19-8997087-G-A c.41078+31C>T - IntronicSNV - 60/83 1
19-8997089-C-A c.41078+29G>T - IntronicSNV - 60/83 1
19-8997091-GAC-G c.41078+25_41078+26del - IntronicDeletion - 60/83 1
19-8997097-T-C c.41078+21A>G - IntronicSNV - 60/83 1
19-8997102-CAAT-C c.41078+14_41078+16del - IntronicDeletion - 60/83 1
19-8997117-C-A c.41078+1G>T - IntronicSNV - 60/83 1
19-8997117-ACC-A c.41078_41078+1del - SpliceDonorDeletion 60/84 60/83 1
19-8997126-A-G c.41070T>C p.T13690= Synonymous 60/84 - 3
19-8997126-A-T c.41070T>A p.T13690= Synonymous 60/84 - 2
19-8997126-A-C c.41070T>G p.T13690= Synonymous 60/84 - 1
19-8997128-T-A c.41068A>T p.T13690S Missense 60/84 - 1
19-8997133-C-T c.41063G>A p.R13688K Missense 60/84 - 2
19-8997142-G-A c.41054C>T p.S13685F Missense 60/84 - 2
19-8997146-A-T c.41050T>A p.Y13684N Missense 60/84 - 1
19-8997148-A-G c.41048T>C p.L13683P Missense 60/84 - 1
19-8997151-G-A c.41045C>T p.P13682L Missense 60/84 - 6
19-8997154-C-A c.41042G>T p.G13681V Missense 60/84 - 1
19-8997154-C-T c.41042G>A p.G13681D Missense 60/84 - 1
19-8997162-G-T c.41034C>A p.T13678= Synonymous 60/84 - 2
19-8997162-G-C c.41034C>G p.T13678= Synonymous 60/84 - 1
19-8997162-G-A c.41034C>T p.T13678= Synonymous 60/84 - 1
19-8997164-T-G c.41032A>C p.T13678P Missense 60/84 - 1
19-8997167-T-G c.41029A>C p.S13677R Missense 60/84 - 1
19-8997168-CT-GA c.41027_41028delinsTC p.K13676I Missense 60/84 - 1
19-8997168-C-T c.41028G>A p.K13676= Synonymous 60/84 - 1
19-8997169-T-A c.41027A>T p.K13676M Missense 60/84 - 3
19-8997169-T-C c.41027A>G p.K13676R Missense 60/84 - 1
19-8997173-A-G c.41023T>C p.F13675L Missense 60/84 - 1
19-8997171-G-T c.41025C>A p.F13675L Missense 60/84 - 1
19-8997171-G-C c.41025C>G p.F13675L Missense 60/84 - 1
19-8997176-G-A c.41020C>T p.L13674= Synonymous 60/84 - 1
19-8997177-G-T c.41019C>A p.S13673= Synonymous 60/84 - 1
19-8997177-G-A c.41019C>T p.S13673= Synonymous 60/84 - 2
19-8997179-A-G c.41017T>C p.S13673P Missense 60/84 - 1
19-8997181-C-T c.41015G>A p.R13672K Missense 60/84 - 1
19-8997189-T-TGGGAGA c.41011-10_41011-5dup - IntronicInsertion - 59/83 12
19-8997269-C-T c.41011-84G>A - IntronicSNV - 59/83 1
19-8997326-A-G c.41010+86T>C - IntronicSNV - 59/83 1
19-8997337-C-T c.41010+75G>A - IntronicSNV - 59/83 1
19-8997340-TG-T c.41010+72del - IntronicDeletion - 59/83 1
19-8997343-C-T c.41010+69G>A - IntronicSNV - 59/83 4
19-8997344-T-G c.41010+68A>C - IntronicSNV - 59/83 1
19-8997346-T-G c.41010+66A>C - IntronicSNV - 59/83 1
19-8997351-A-G c.41010+61T>C - IntronicSNV - 59/83 1
19-8997353-TGA-T c.41010+57_41010+58del - IntronicDeletion - 59/83 1
19-8997398-GGC-G c.41010+12_41010+13del - IntronicDeletion - 59/83 1
19-8997400-C-T c.41010+12G>A - IntronicSNV - 59/83 1
19-8997403-G-A c.41010+9C>T - IntronicSNV - 59/83 1
19-8997404-G-A c.41010+8C>T - IntronicSNV - 59/83 1
19-8997409-T-C c.41010+3A>G - IntronicSNV - 59/83 1
19-8997415-G-A c.41007C>T p.G13669= Synonymous 59/84 - 5
19-8997415-G-C c.41007C>G p.G13669= Synonymous 59/84 - 3
19-8997415-G-T c.41007C>A p.G13669= Synonymous 59/84 - 3
19-8997417-C-A c.41005G>T p.G13669C Missense 59/84 - 5
19-8997418-C-A c.41004G>T p.Q13668H Missense 59/84 - 1
19-8997418-C-G c.41004G>C p.Q13668H Missense 59/84 - 1
19-8997421-A-C c.41001T>G p.L13667= Synonymous 59/84 - 5
19-8997421-A-T c.41001T>A p.L13667= Synonymous 59/84 - 5
19-8997421-A-G c.41001T>C p.L13667= Synonymous 59/84 - 3
19-8997423-G-A c.40999C>T p.L13667F Missense 59/84 - 1
19-8997424-G-A c.40998C>T p.V13666= Synonymous 59/84 - 9
19-8997424-G-T c.40998C>A p.V13666= Synonymous 59/84 - 4
19-8997424-G-C c.40998C>G p.V13666= Synonymous 59/84 - 3
19-8997432-C-T c.40990G>A p.E13664K Missense 59/84 - 4
19-8997433-C-T c.40989G>A p.T13663= Synonymous 59/84 - 9
19-8997433-C-A c.40989G>T p.T13663= Synonymous 59/84 - 2
19-8997433-C-G c.40989G>C p.T13663= Synonymous 59/84 - 2
19-8997436-G-T c.40986C>A p.T13662= Synonymous 59/84 - 2
19-8997439-G-A c.40983C>T p.N13661= Synonymous 59/84 - 1
19-8997440-T-G c.40982A>C p.N13661T Missense 59/84 - 6
19-8997443-A-G c.40979T>C p.F13660S Missense 59/84 - 1
19-8997444-A-G c.40978T>C p.F13660L Missense 59/84 - 1
19-8997442-G-T c.40980C>A p.F13660L Missense 59/84 - 1
19-8997442-G-C c.40980C>G p.F13660L Missense 59/84 - 1
19-8997446-T-G c.40976A>C p.K13659T Missense 59/84 - 2
19-8997446-T-C c.40976A>G p.K13659R Missense 59/84 - 1
19-8997448-C-T c.40974G>A p.R13658= Synonymous 59/84 - 8
19-8997450-T-G c.40972A>C p.R13658= Synonymous 59/84 - 2
19-8997452-G-C c.40970C>G p.S13657C Missense 59/84 - 1
19-8997454-G-A c.40968C>T p.G13656= Synonymous 59/84 - 8
19-8997454-G-C c.40968C>G p.G13656= Synonymous 59/84 - 2
19-8997454-G-T c.40968C>A p.G13656= Synonymous 59/84 - 7
19-8997456-C-A c.40966G>T p.G13656C Missense 59/84 - 1
19-8997458-G-T c.40964C>A p.P13655H Missense 59/84 - 1
19-8997457-AG-A c.40964del p.P13655Lfs*35 Frameshift 59/84 - 1
19-8997461-T-G c.40961A>C p.H13654P Missense 59/84 - 1
19-8997463-C-T c.40959G>A p.Q13653= Synonymous 59/84 - 8
19-8997465-G-C c.40957C>G p.Q13653E Missense 59/84 - 4
19-8997470-TT-GC c.40951_40952delinsGC p.N13651A Missense 59/84 - 1
19-8997472-C-T c.40950G>A p.E13650= Synonymous 59/84 - 9
19-8997473-T-C c.40949A>G p.E13650G Missense 59/84 - 1
19-8997475-C-T c.40947G>A p.E13649= Synonymous 59/84 - 4
19-8997479-T-G c.40943A>C p.Y13648S Missense 59/84 - 1
19-8997481-CC-AT c.40940_40941delinsAT p.R13647H Missense 59/84 - 3
19-8997481-C-A c.40941G>T p.R13647= Synonymous 59/84 - 5
19-8997481-C-T c.40941G>A p.R13647= Synonymous 59/84 - 5
19-8997482-C-T c.40940G>A p.R13647Q Missense 59/84 - 13
19-8997483-G-T c.40939C>A p.R13647= Synonymous 59/84 - 4
19-8997481-C-G c.40941G>C p.R13647= Synonymous 59/84 - 4
19-8997483-G-A c.40939C>T p.R13647W Missense 59/84 - 1
19-8997486-G-T c.40936C>A p.L13646M Missense 59/84 - 1
19-8997486-G-A c.40936C>T p.L13646= Synonymous 59/84 - 1
19-8997488-T-A c.40934A>T p.N13645I Missense 59/84 - 1
19-8997497-G-C c.40925C>G p.T13642S Missense 59/84 - 1
19-8997498-T-A c.40924A>T p.T13642S Missense 59/84 - 1
19-8997499-G-A c.40923C>T p.F13641= Synonymous 59/84 - 9
19-8997505-G-A c.40917C>T p.L13639= Synonymous 59/84 - 2
19-8997505-G-C c.40917C>G p.L13639= Synonymous 59/84 - 1
19-8997505-G-T c.40917C>A p.L13639= Synonymous 59/84 - 1
19-8997507-G-A c.40915C>T p.L13639F Missense 59/84 - 9
19-8997508-A-T c.40914T>A p.T13638= Synonymous 59/84 - 3
19-8997508-A-C c.40914T>G p.T13638= Synonymous 59/84 - 3
19-8997508-A-G c.40914T>C p.T13638= Synonymous 59/84 - 5
19-8997511-G-A c.40911C>T p.F13637= Synonymous 59/84 - 4
19-8997513-A-G c.40909T>C p.F13637L Missense 59/84 - 5
19-8997511-G-T c.40911C>A p.F13637L Missense 59/84 - 8
19-8997511-G-C c.40911C>G p.F13637L Missense 59/84 - 5
19-8997515-A-G c.40907T>C p.L13636P Missense 59/84 - 7
19-8997517-C-T c.40905G>A p.V13635= Synonymous 59/84 - 7
19-8997517-C-G c.40905G>C p.V13635= Synonymous 59/84 - 1
19-8997517-C-A c.40905G>T p.V13635= Synonymous 59/84 - 1
19-8997519-C-T c.40903G>A p.V13635M Missense 59/84 - 8
19-8997520-C-A c.40902G>T p.L13634= Synonymous 59/84 - 1
19-8997520-C-T c.40902G>A p.L13634= Synonymous 59/84 - 1
19-8997520-C-G c.40902G>C p.L13634= Synonymous 59/84 - 1
19-8997522-G-A c.40900C>T p.L13634= Synonymous 59/84 - 2
19-8997523-G-A c.40899C>T p.L13633= Synonymous 59/84 - 1
19-8997526-A-C c.40896T>G p.P13632= Synonymous 59/84 - 1
19-8997526-A-T c.40896T>A p.P13632= Synonymous 59/84 - 1
19-8997526-A-G c.40896T>C p.P13632= Synonymous 59/84 - 1
19-8997527-G-A c.40895C>T p.P13632L Missense 59/84 - 2
19-8997528-G-A c.40894C>T p.P13632S Missense 59/84 - 2
19-8997529-G-C c.40893C>G p.S13631R Missense 59/84 - 1
19-8997529-G-GA c.40892_40893insT p.L13633Sfs*17 Frameshift 59/84 - 1
19-8997529-G-A c.40893C>T p.S13631= Synonymous 59/84 - 1
19-8997530-C-A c.40892G>T p.S13631I Missense 59/84 - 2
19-8997531-T-A c.40891A>T p.S13631C Missense 59/84 - 2
19-8997531-CTGG-C c.40889_40891del p.A13630_S13631delinsG MultiAAMissense 59/84 - 1
19-8997532-G-A c.40890C>T p.A13630= Synonymous 59/84 - 1
19-8997533-G-C c.40889C>G p.A13630G Missense 59/84 - 2
19-8997531-TG-T c.40890del p.S13631Afs*59 Frameshift 59/84 - 1
19-8997534-GC-G c.40888del p.A13630Pfs*60 Frameshift 59/84 - 1
19-8997535-A-G c.40887T>C p.A13629= Synonymous 59/84 - 2
19-8997535-A-T c.40887T>A p.A13629= Synonymous 59/84 - 1
19-8997535-A-C c.40887T>G p.A13629= Synonymous 59/84 - 1
19-8997546-A-G c.40886-10T>C - IntronicSNV - 58/83 1
19-8997548-G-A c.40886-12C>T - IntronicSNV - 58/83 1
19-8997548-G-T c.40886-12C>A - IntronicSNV - 58/83 1
19-8997556-G-T c.40886-20C>A - IntronicSNV - 58/83 1
19-8997567-T-C c.40886-31A>G - IntronicSNV - 58/83 1
19-8997662-G-A c.40886-126C>T - IntronicSNV - 58/83 3
19-8997662-G-C c.40886-126C>G - IntronicSNV - 58/83 3
19-8997680-C-T c.40886-144G>A - IntronicSNV - 58/83 3
19-8998532-T-C c.40885+166A>G - IntronicSNV - 58/83 5
19-8998577-G-A c.40885+121C>T - IntronicSNV - 58/83 1
19-8998650-A-G c.40885+48T>C - IntronicSNV - 58/83 1
19-8998651-C-A c.40885+47G>T - IntronicSNV - 58/83 1
19-8998653-AGT-A c.40885+44_40885+45del - IntronicDeletion - 58/83 1
19-8998656-CA-C c.40885+42del - IntronicDeletion - 58/83 1
19-8998666-C-A c.40885+32G>T - IntronicSNV - 58/83 1
19-8998677-A-G c.40885+21T>C - IntronicSNV - 58/83 1
19-8998681-G-C c.40885+17C>G - IntronicSNV - 58/83 1
19-8998687-T-C c.40885+11A>G - IntronicSNV - 58/83 1
19-8998689-T-G c.40885+9A>C - IntronicSNV - 58/83 1
19-8998692-A-G c.40885+6T>C - IntronicSNV - 58/83 1
19-8998695-T-C c.40885+3A>G - IntronicSNV - 58/83 1
19-8998697-C-CGCT c.40885_40885+1insAGC p.A13629delinsEP SpliceDonorInsertion - - 1
19-8998698-C-T c.40885G>A p.A13629T Missense 58/84 - 1
19-8998699-C-T c.40884G>A p.S13628= Synonymous 58/84 - 2
19-8998700-G-A c.40883C>T p.S13628L Missense 58/84 - 2
19-8998701-A-T c.40882T>A p.S13628T Missense 58/84 - 1
19-8998702-G-A c.40881C>T p.P13627= Synonymous 58/84 - 4
19-8998702-G-C c.40881C>G p.P13627= Synonymous 58/84 - 2
19-8998702-G-T c.40881C>A p.P13627= Synonymous 58/84 - 2
19-8998703-G-A c.40880C>T p.P13627L Missense 58/84 - 3
19-8998703-G-T c.40880C>A p.P13627H Missense 58/84 - 1
19-8998704-G-A c.40879C>T p.P13627S Missense 58/84 - 4
19-8998705-A-G c.40878T>C p.G13626= Synonymous 58/84 - 1
19-8998707-C-A c.40876G>T p.G13626C Missense 58/84 - 1
19-8998708-A-G c.40875T>C p.P13625= Synonymous 58/84 - 1
19-8998722-G-A c.40861C>T p.P13621S Missense 58/84 - 1
19-8998724-AG-A c.40859del p.T13620Ifs*70 Frameshift 58/84 - 1
19-8998732-T-G c.40851A>C p.T13617= Synonymous 58/84 - 1
19-8998736-C-T c.40847G>A p.G13616E Missense 58/84 - 8
19-8998737-C-T c.40846G>A p.G13616R Missense 58/84 - 1
19-8998737-C-G c.40846G>C p.G13616R Missense 58/84 - 1
19-8998741-G-A c.40842C>T p.D13614= Synonymous 58/84 - 1
19-8998743-C-T c.40840G>A p.D13614N Missense 58/84 - 8
19-8998743-C-G c.40840G>C p.D13614H Missense 58/84 - 1
19-8998744-C-T c.40839G>A p.V13613= Synonymous 58/84 - 1
19-8998744-C-G c.40839G>C p.V13613= Synonymous 58/84 - 1
19-8998744-C-A c.40839G>T p.V13613= Synonymous 58/84 - 1
19-8998748-G-A c.40835C>T p.T13612I Missense 58/84 - 6
19-8998751-G-A c.40832C>T p.P13611L Missense 58/84 - 2
19-8998752-G-A c.40831C>T p.P13611S Missense 58/84 - 9
19-8998753-G-A c.40830C>T p.T13610= Synonymous 58/84 - 1
19-8998753-G-T c.40830C>A p.T13610= Synonymous 58/84 - 2
19-8998753-G-C c.40830C>G p.T13610= Synonymous 58/84 - 1
19-8998749-T-TG c.40833dup p.T13612Hfs*13 Frameshift 58/84 - 1
19-8998756-C-T c.40827G>A p.G13609= Synonymous 58/84 - 1
19-8998758-C-T c.40825G>A p.G13609R Missense 58/84 - 2
19-8998760-G-A c.40823C>T p.P13608L Missense 58/84 - 2
19-8998761-G-A c.40822C>T p.P13608S Missense 58/84 - 5
19-8998762-A-C c.40821T>G p.I13607M Missense 58/84 - 2
19-8998763-A-G c.40820T>C p.I13607T Missense 58/84 - 11
19-8998766-G-A c.40820-3C>T - IntronicSNV - 57/83 1
19-8998775-G-A c.40820-12C>T - IntronicSNV - 57/83 1
19-8998775-G-C c.40820-12C>G - IntronicSNV - 57/83 1
19-8998775-G-T c.40820-12C>A - IntronicSNV - 57/83 1
19-8998782-T-C c.40820-19A>G - IntronicSNV - 57/83 1
19-8998830-G-C c.40820-67C>G - IntronicSNV - 57/83 2
19-8998834-T-G c.40820-71A>C - IntronicSNV - 57/83 1
19-8998846-C-T c.40820-83G>A - IntronicSNV - 57/83 1
19-8998851-T-C c.40820-88A>G - IntronicSNV - 57/83 1
19-8998851-T-G c.40820-88A>C - IntronicSNV - 57/83 1
19-8998857-G-T c.40820-94C>A - IntronicSNV - 57/83 1
19-8998863-G-A c.40820-100C>T - IntronicSNV - 57/83 1
19-8998867-G-T c.40820-104C>A - IntronicSNV - 57/83 1
19-8998870-C-T c.40820-107G>A - IntronicSNV - 57/83 1
19-8998894-G-T c.40819+131C>A - IntronicSNV - 57/83 1
19-8998896-A-G c.40819+129T>C - IntronicSNV - 57/83 1
19-8998901-A-G c.40819+124T>C - IntronicSNV - 57/83 1
19-8998907-G-A c.40819+118C>T - IntronicSNV - 57/83 1
19-8998933-G-T c.40819+92C>A - IntronicSNV - 57/83 1
19-8998953-C-T c.40819+72G>A - IntronicSNV - 57/83 1
19-8999023-A-C c.40819+2T>G - IntronicSNV - 57/83 1
19-8999024-C-A c.40819+1G>T - IntronicSNV - 57/83 1
19-8999030-G-T c.40814C>A p.T13605N Missense 57/84 - 1
19-8999032-G-A c.40812C>T p.T13604= Synonymous 57/84 - 1
19-8999035-G-C c.40809C>G p.P13603= Synonymous 57/84 - 1
19-8999036-GG-AT c.40807_40808delinsAT p.P13603I Missense 57/84 - 6
19-8999040-C-T c.40804G>A p.V13602M Missense 57/84 - 1
19-8999044-G-A c.40800C>T p.S13600= Synonymous 57/84 - 3
19-8999047-C-T c.40797G>A p.R13599= Synonymous 57/84 - 2
19-8999048-C-T c.40796G>A p.R13599Q Missense 57/84 - 8
19-8999048-C-A c.40796G>T p.R13599L Missense 57/84 - 1
19-8999049-G-A c.40795C>T p.R13599W Missense 57/84 - 1
19-8999050-C-T c.40794G>A p.Q13598= Synonymous 57/84 - 1
19-8999056-G-A c.40788C>T p.F13596= Synonymous 57/84 - 8
19-8999058-A-G c.40786T>C p.F13596L Missense 57/84 - 1
19-8999056-G-T c.40788C>A p.F13596L Missense 57/84 - 1
19-8999056-G-C c.40788C>G p.F13596L Missense 57/84 - 1
19-8999066-T-C c.40784-6A>G - IntronicSNV - 56/83 1
19-8999066-T-G c.40784-6A>C - IntronicSNV - 56/83 1
19-8999085-G-A c.40784-25C>T - IntronicSNV - 56/83 1
19-8999088-G-A c.40784-28C>T - IntronicSNV - 56/83 1
19-8999094-G-A c.40784-34C>T - IntronicSNV - 56/83 1
19-8999094-G-T c.40784-34C>A - IntronicSNV - 56/83 1
19-8999097-T-A c.40784-37A>T - IntronicSNV - 56/83 1
19-8999097-T-C c.40784-37A>G - IntronicSNV - 56/83 1
19-8999097-T-G c.40784-37A>C - IntronicSNV - 56/83 1
19-8999100-G-A c.40784-40C>T - IntronicSNV - 56/83 1
19-8999100-G-C c.40784-40C>G - IntronicSNV - 56/83 1
19-8999101-G-A c.40784-41C>T - IntronicSNV - 56/83 1
19-8999101-G-C c.40784-41C>G - IntronicSNV - 56/83 1
19-8999102-G-A c.40784-42C>T - IntronicSNV - 56/83 1
19-8999102-G-T c.40784-42C>A - IntronicSNV - 56/83 1
19-8999105-T-A c.40784-45A>T - IntronicSNV - 56/83 1
19-8999116-T-A c.40784-56A>T - IntronicSNV - 56/83 1
19-8999116-T-C c.40784-56A>G - IntronicSNV - 56/83 1
19-8999118-T-A c.40784-58A>T - IntronicSNV - 56/83 1
19-8999142-C-A c.40784-82G>T - IntronicSNV - 56/83 1
19-8999142-C-G c.40784-82G>C - IntronicSNV - 56/83 1
19-8999142-C-T c.40784-82G>A - IntronicSNV - 56/83 1
19-8999242-A-G c.40783+150T>C - IntronicSNV - 56/83 1
19-8999244-T-A c.40783+148A>T - IntronicSNV - 56/83 1
19-8999261-C-T c.40783+131G>A - IntronicSNV - 56/83 1
19-8999265-C-A c.40783+127G>T - IntronicSNV - 56/83 1
19-8999269-G-A c.40783+123C>T - IntronicSNV - 56/83 1
19-8999270-C-T c.40783+122G>A - IntronicSNV - 56/83 1
19-8999311-G-A c.40783+81C>T - IntronicSNV - 56/83 4
19-8999316-G-A c.40783+76C>T - IntronicSNV - 56/83 1
19-8999319-C-T c.40783+73G>A - IntronicSNV - 56/83 1
19-8999321-T-C c.40783+71A>G - IntronicSNV - 56/83 1
19-8999325-C-T c.40783+67G>A - IntronicSNV - 56/83 1
19-8999331-G-A c.40783+61C>T - IntronicSNV - 56/83 1
19-8999331-G-C c.40783+61C>G - IntronicSNV - 56/83 1
19-8999334-G-A c.40783+58C>T - IntronicSNV - 56/83 1
19-8999339-T-G c.40783+53A>C - IntronicSNV - 56/83 1
19-8999342-A-C c.40783+50T>G - IntronicSNV - 56/83 1
19-8999342-A-G c.40783+50T>C - IntronicSNV - 56/83 1
19-8999343-G-A c.40783+49C>T - IntronicSNV - 56/83 1
19-8999345-C-T c.40783+47G>A - IntronicSNV - 56/83 2
19-8999348-C-G c.40783+44G>C - IntronicSNV - 56/83 1
19-8999348-C-T c.40783+44G>A - IntronicSNV - 56/83 1
19-8999354-A-C c.40783+38T>G - IntronicSNV - 56/83 2
19-8999354-A-T c.40783+38T>A - IntronicSNV - 56/83 2
19-8999355-A-G c.40783+37T>C - IntronicSNV - 56/83 1
19-8999366-A-C c.40783+26T>G - IntronicSNV - 56/83 1
19-8999373-C-A c.40783+19G>T - IntronicSNV - 56/83 2
19-8999373-C-T c.40783+19G>A - IntronicSNV - 56/83 3
19-8999381-C-A c.40783+11G>T - IntronicSNV - 56/83 1
19-8999382-A-C c.40783+10T>G - IntronicSNV - 56/83 4
19-8999382-A-G c.40783+10T>C - IntronicSNV - 56/83 4
19-8999382-CAA-C c.40783+9_40783+10del - IntronicDeletion - 56/83 1
19-8999383-A-G c.40783+9T>C - IntronicSNV - 56/83 8
19-8999386-A-G c.40783+6T>C - IntronicSNV - 56/83 10
19-8999382-AACT-A c.40783+7_40783+9del - IntronicDeletion - 56/83 1
19-8999392-C-G c.40783G>C p.G13595R Missense 56/84 - 1
19-8999395-T-C c.40780A>G p.N13594D Missense 56/84 - 14
19-8999396-G-T c.40779C>A p.V13593= Synonymous 56/84 - 4
19-8999399-A-T c.40776T>A p.Y13592* Nonsense 56/84 - 1
19-8999399-A-C c.40776T>G p.Y13592* Nonsense 56/84 - 1
19-8999407-T-G c.40768A>C p.S13590R Missense 56/84 - 1
19-8999408-G-C c.40767C>G p.D13589E Missense 56/84 - 1
19-8999408-G-T c.40767C>A p.D13589E Missense 56/84 - 1
19-8999409-T-C c.40766A>G p.D13589G Missense 56/84 - 3
19-8999411-C-T c.40764G>A p.R13588= Synonymous 56/84 - 6
19-8999413-T-G c.40762A>C p.R13588= Synonymous 56/84 - 1
19-8999412-C-T c.40763G>A p.R13588K Missense 56/84 - 3
19-8999414-G-A c.40761C>T p.D13587= Synonymous 56/84 - 5
19-8999416-C-T c.40759G>A p.D13587N Missense 56/84 - 1
19-8999419-G-C c.40756C>G p.L13586V Missense 56/84 - 1
19-8999421-G-C c.40754C>G p.T13585S Missense 56/84 - 21
19-8999421-G-A c.40754C>T p.T13585I Missense 56/84 - 5
19-8999422-T-A c.40753A>T p.T13585S Missense 56/84 - 2
19-8999421-G-T c.40754C>A p.T13585N Missense 56/84 - 1
19-8999421-GT-AG c.40753_40754delinsCT p.T13585L Missense 56/84 - 1
19-8999422-T-C c.40753A>G p.T13585A Missense 56/84 - 4
19-8999422-T-G c.40753A>C p.T13585P Missense 56/84 - 1
19-8999423-G-A c.40752C>T p.Y13584= Synonymous 56/84 - 1
19-8999423-G-T c.40752C>A p.Y13584* Nonsense 56/84 - 2
19-8999423-G-C c.40752C>G p.Y13584* Nonsense 56/84 - 1
19-8999429-G-T c.40746C>A p.G13582= Synonymous 56/84 - 9
19-8999429-G-A c.40746C>T p.G13582= Synonymous 56/84 - 7
19-8999429-G-C c.40746C>G p.G13582= Synonymous 56/84 - 2
19-8999431-C-T c.40744G>A p.G13582S Missense 56/84 - 1
19-8999435-C-T c.40740G>A p.E13580= Synonymous 56/84 - 2
19-8999437-C-T c.40738G>A p.E13580K Missense 56/84 - 2
19-8999438-A-T c.40737T>A p.T13579= Synonymous 56/84 - 13
19-8999438-A-C c.40737T>G p.T13579= Synonymous 56/84 - 11
19-8999438-A-G c.40737T>C p.T13579= Synonymous 56/84 - 11
19-8999439-G-A c.40736C>T p.T13579I Missense 56/84 - 3
19-8999441-G-A c.40734C>T p.I13578= Synonymous 56/84 - 8
19-8999441-G-T c.40734C>A p.I13578= Synonymous 56/84 - 1
19-8999443-T-C c.40732A>G p.I13578V Missense 56/84 - 16
19-8999445-C-T c.40730G>A p.S13577N Missense 56/84 - 15
19-8999446-T-C c.40729A>G p.S13577G Missense 56/84 - 15
19-8999446-T-A c.40729A>T p.S13577C Missense 56/84 - 1
19-8999448-T-C c.40727A>G p.H13576R Missense 56/84 - 1
19-8999449-G-T c.40726C>A p.H13576N Missense 56/84 - 22
19-8999449-G-A c.40726C>T p.H13576Y Missense 56/84 - 2
19-8999453-C-T c.40722G>A p.L13574= Synonymous 56/84 - 22
19-8999453-C-A c.40722G>T p.L13574= Synonymous 56/84 - 1
19-8999453-C-G c.40722G>C p.L13574= Synonymous 56/84 - 1
19-8999455-G-A c.40720C>T p.L13574= Synonymous 56/84 - 1
19-8999456-C-T c.40719G>A p.Q13573= Synonymous 56/84 - 3
19-8999458-G-T c.40717C>A p.Q13573K Missense 56/84 - 7
19-8999459-G-C c.40716C>G p.S13572R Missense 56/84 - 1
19-8999459-G-T c.40716C>A p.S13572R Missense 56/84 - 1
19-8999461-T-G c.40714A>C p.S13572R Missense 56/84 - 1
19-8999462-C-T c.40713G>A p.L13571= Synonymous 56/84 - 14
19-8999462-C-A c.40713G>T p.L13571= Synonymous 56/84 - 3
19-8999462-C-G c.40713G>C p.L13571= Synonymous 56/84 - 3
19-8999464-G-A c.40711C>T p.L13571= Synonymous 56/84 - 9
19-8999464-G-T c.40711C>A p.L13571M Missense 56/84 - 1
19-8999465-C-T c.40710G>A p.E13570= Synonymous 56/84 - 4
19-8999468-C-G c.40707G>C p.W13569C Missense 56/84 - 12
19-8999468-C-T c.40707G>A p.W13569* Nonsense 56/84 - 6
19-8999468-C-A c.40707G>T p.W13569C Missense 56/84 - 2
19-8999469-C-T c.40706G>A p.W13569* Nonsense 56/84 - 3
19-8999473-A-G c.40702T>C p.Y13568H Missense 56/84 - 3
19-8999474-T-C c.40701A>G p.L13567= Synonymous 56/84 - 13
19-8999474-T-A c.40701A>T p.L13567= Synonymous 56/84 - 10
19-8999474-T-G c.40701A>C p.L13567= Synonymous 56/84 - 3
19-8999476-G-A c.40699C>T p.L13567= Synonymous 56/84 - 3
19-8999478-T-C c.40697A>G p.Q13566R Missense 56/84 - 20
19-8999478-TG-CA c.40696_40697inv p.Q13566W Missense 56/84 - 1
19-8999479-G-T c.40696C>A p.Q13566K Missense 56/84 - 2
19-8999479-G-A c.40696C>T p.Q13566* Nonsense 56/84 - 2
19-8999482-C-G c.40693G>C p.E13565Q Missense 56/84 - 1
19-8999484-C-T c.40691G>A p.R13564K Missense 56/84 - 5
19-8999488-C-T c.40687G>A p.D13563N Missense 56/84 - 23
19-8999492-T-C c.40683A>G p.G13561= Synonymous 56/84 - 8
19-8999492-T-G c.40683A>C p.G13561= Synonymous 56/84 - 6
19-8999492-T-A c.40683A>T p.G13561= Synonymous 56/84 - 3
19-8999493-C-A c.40682G>T p.G13561V Missense 56/84 - 2
19-8999497-G-GACCA c.40677_40678insTGGT p.P13560Wfs*22 Frameshift 56/84 - 9
19-8999497-G-GACCAGT c.40677_40678insACTGGT p.S13559_P13560insTG InFrameInsertion 56/84 - 2
19-8999498-GGCTT-G c.40674_40677del p.K13558Nfs*13 Frameshift 56/84 - 1
19-8999498-G-C c.40677C>G p.S13559R Missense 56/84 - 4
19-8999498-G-T c.40677C>A p.S13559R Missense 56/84 - 10
19-8999500-T-G c.40675A>C p.S13559R Missense 56/84 - 4
19-8999498-G-A c.40677C>T p.S13559= Synonymous 56/84 - 2
19-8999499-GCTTT-G c.40673_40676del p.K13558Tfs*13 Frameshift 56/84 - 7
19-8999499-GCT-G c.40675_40676del p.S13559Pfs*21 Frameshift 56/84 - 3
19-8999499-C-A c.40676G>T p.S13559I Missense 56/84 - 1
19-8999499-C-T c.40676G>A p.S13559N Missense 56/84 - 4
19-8999499-GC-G c.40676del p.S13559Tfs*13 Frameshift 56/84 - 2
19-8999500-T-C c.40675A>G p.S13559G Missense 56/84 - 3
19-8999501-T-A c.40674A>T p.K13558N Missense 56/84 - 2
19-8999501-T-G c.40674A>C p.K13558N Missense 56/84 - 1
19-8999502-T-TCCGA c.40672_40673insTCGG p.K13558Ifs*24 Frameshift 56/84 - 8
19-8999502-T-TCCCA c.40672_40673insTGGG p.K13558Mfs*24 Frameshift 56/84 - 2
19-8999502-T-TG c.40672_40673insC p.K13558Tfs*23 Frameshift 56/84 - 2
19-8999502-T-G c.40673A>C p.K13558T Missense 56/84 - 3
19-8999502-T-A c.40673A>T p.K13558I Missense 56/84 - 3
19-8999503-T-G c.40672A>C p.K13558Q Missense 56/84 - 13
19-8999503-T-A c.40672A>T p.K13558* Nonsense 56/84 - 2
19-8999503-T-TAGA c.40671_40672insTCT p.P13557_K13558insS InFrameInsertion 56/84 - 2
19-8999503-T-TA c.40671_40672insT p.K13558* Nonsense 56/84 - 1
19-8999504-G-GA c.40670_40671insT p.K13558Qfs*23 Frameshift 56/84 - 1
19-8999504-G-A c.40671C>T p.P13557= Synonymous 56/84 - 3
19-8999506-G-A c.40669C>T p.P13557S Missense 56/84 - 3
19-8999507-A-G c.40668T>C p.D13556= Synonymous 56/84 - 5
19-8999507-GA-G c.40668del p.S13559Afs*13 Frameshift 56/84 - 3
19-8999507-A-T c.40668T>A p.D13556E Missense 56/84 - 1
19-8999509-C-T c.40666G>A p.D13556N Missense 56/84 - 18
19-8999511-G-A c.40664C>T p.P13555L Missense 56/84 - 22
19-8999511-GG-AC c.40663_40664delinsGT p.P13555V Missense 56/84 - 1
19-8999512-G-C c.40663C>G p.P13555A Missense 56/84 - 7
19-8999512-G-T c.40663C>A p.P13555T Missense 56/84 - 1
19-8999510-AGG-A c.40663_40664del p.P13555* Frameshift 56/84 - 1
19-8999514-C-T c.40661G>A p.R13554H Missense 56/84 - 19
19-8999514-C-A c.40661G>T p.R13554L Missense 56/84 - 3
19-8999515-G-A c.40660C>T p.R13554C Missense 56/84 - 4
19-8999515-G-C c.40660C>G p.R13554G Missense 56/84 - 1
19-8999515-G-T c.40660C>A p.R13554S Missense 56/84 - 1
19-8999517-T-A c.40658A>T p.Y13553F Missense 56/84 - 10
19-8999517-TA-AG c.40657_40658delinsCT p.Y13553L Missense 56/84 - 1
19-8999518-A-G c.40657T>C p.Y13553H Missense 56/84 - 22
19-8999519-G-A c.40656C>T p.T13552= Synonymous 56/84 - 2
19-8999519-G-C c.40656C>G p.T13552= Synonymous 56/84 - 3
19-8999519-G-T c.40656C>A p.T13552= Synonymous 56/84 - 1
19-8999520-G-A c.40655C>T p.T13552I Missense 56/84 - 5
19-8999520-GT-AG c.40654_40655delinsCT p.T13552L Missense 56/84 - 1
19-8999521-T-G c.40654A>C p.T13552P Missense 56/84 - 7
19-8999522-G-A c.40653C>T p.C13551= Synonymous 56/84 - 7
19-8999527-T-C c.40648A>G p.I13550V Missense 56/84 - 5
19-8999527-ATGG-A c.40646_40648del p.A13549_I13550delinsV MultiAAMissense 56/84 - 1
19-8999528-G-A c.40647C>T p.A13549= Synonymous 56/84 - 2
19-8999529-G-A c.40646C>T p.A13549V Missense 56/84 - 2
19-8999530-C-T c.40645G>A p.A13549T Missense 56/84 - 12
19-8999531-A-G c.40644T>C p.D13548= Synonymous 56/84 - 8
19-8999531-A-C c.40644T>G p.D13548E Missense 56/84 - 1
19-8999533-C-T c.40642G>A p.D13548N Missense 56/84 - 4
19-8999534-C-T c.40641G>A p.V13547= Synonymous 56/84 - 4
19-8999536-C-A c.40639G>T p.V13547L Missense 56/84 - 3
19-8999536-C-G c.40639G>C p.V13547L Missense 56/84 - 3
19-8999536-C-T c.40639G>A p.V13547M Missense 56/84 - 1
19-8999536-ACT-A c.40638_40639del p.K13546Nfs*10 Frameshift 56/84 - 4
19-8999537-T-G c.40638A>C p.K13546N Missense 56/84 - 3
19-8999537-T-A c.40638A>T p.K13546N Missense 56/84 - 1
19-8999537-CTTTGGTGGCT-C c.40629_40638del p.A13544Wfs*25 Frameshift 56/84 - 1
19-8999538-T-C c.40637A>G p.K13546R Missense 56/84 - 20
19-8999538-T-G c.40637A>C p.K13546T Missense 56/84 - 3
19-8999538-TT-CC c.40636_40637delinsGG p.K13546G Missense 56/84 - 2
19-8999539-T-C c.40636A>G p.K13546E Missense 56/84 - 15
19-8999539-T-TCC c.40635_40636insGG p.K13546Gfs*27 Frameshift 56/84 - 2
19-8999540-G-T c.40635C>A p.T13545= Synonymous 56/84 - 5
19-8999540-G-A c.40635C>T p.T13545= Synonymous 56/84 - 5
19-8999540-G-C c.40635C>G p.T13545= Synonymous 56/84 - 1
19-8999543-G-T c.40632C>A p.A13544= Synonymous 56/84 - 4
19-8999543-G-C c.40632C>G p.A13544= Synonymous 56/84 - 2
19-8999543-G-A c.40632C>T p.A13544= Synonymous 56/84 - 2
19-8999544-G-A c.40631C>T p.A13544V Missense 56/84 - 1
19-8999545-C-T c.40630G>A p.A13544T Missense 56/84 - 7
19-8999547-G-A c.40628C>T p.A13543V Missense 56/84 - 1
19-8999548-C-T c.40627G>A p.A13543T Missense 56/84 - 1
19-8999548-C-G c.40627G>C p.A13543P Missense 56/84 - 1
19-8999550-C-T c.40625G>A p.G13542E Missense 56/84 - 12
19-8999550-C-A c.40625G>T p.G13542V Missense 56/84 - 2
19-8999550-C-G c.40625G>C p.G13542A Missense 56/84 - 1
19-8999551-C-T c.40624G>A p.G13542R Missense 56/84 - 5
19-8999551-C-G c.40624G>C p.G13542R Missense 56/84 - 1
19-8999552-A-C c.40623T>G p.D13541E Missense 56/84 - 5
19-8999552-A-T c.40623T>A p.D13541E Missense 56/84 - 4
19-8999553-AT-A c.40622del p.D13541Vfs*31 Frameshift 56/84 - 4
19-8999554-C-G c.40621G>C p.D13541H Missense 56/84 - 10
19-8999555-C-G c.40620G>C p.K13540N Missense 56/84 - 7
19-8999555-C-T c.40620G>A p.K13540= Synonymous 56/84 - 2
19-8999555-C-A c.40620G>T p.K13540N Missense 56/84 - 1
19-8999556-T-A c.40619A>T p.K13540M Missense 56/84 - 4
19-8999557-T-G c.40618A>C p.K13540Q Missense 56/84 - 3
19-8999558-C-T c.40617G>A p.K13539= Synonymous 56/84 - 3
19-8999559-T-G c.40616A>C p.K13539T Missense 56/84 - 3
19-8999560-T-C c.40615A>G p.K13539E Missense 56/84 - 15
19-8999560-T-TC c.40614_40615insG p.K13539Efs*18 Frameshift 56/84 - 3
19-8999561-G-A c.40614C>T p.P13538= Synonymous 56/84 - 4
19-8999561-G-C c.40614C>G p.P13538= Synonymous 56/84 - 2
19-8999561-G-T c.40614C>A p.P13538= Synonymous 56/84 - 4
19-8999561-G-CA c.40614delinsTG p.K13539Efs*18 Frameshift 56/84 - 1
19-8999562-G-T c.40613C>A p.P13538H Missense 56/84 - 1
19-8999562-G-C c.40613C>G p.P13538R Missense 56/84 - 2
19-8999564-C-T c.40611G>A p.R13537= Synonymous 56/84 - 4
19-9000148-T-G c.40609A>C p.R13537= Synonymous 55/84 - 2
19-8999568-G-A c.40611-4C>T - IntronicSNV - 55/83 2
19-8999575-C-A c.40611-11G>T - IntronicSNV - 55/83 1
19-8999575-C-T c.40611-11G>A - IntronicSNV - 55/83 1
19-8999580-T-C c.40611-16A>G - IntronicSNV - 55/83 1
19-8999580-T-G c.40611-16A>C - IntronicSNV - 55/83 1
19-8999588-A-G c.40611-24T>C - IntronicSNV - 55/83 1
19-8999588-A-T c.40611-24T>A - IntronicSNV - 55/83 1
19-8999590-A-G c.40611-26T>C - IntronicSNV - 55/83 1
19-8999590-A-T c.40611-26T>A - IntronicSNV - 55/83 1
19-8999598-C-A c.40611-34G>T - IntronicSNV - 55/83 1
19-8999598-C-T c.40611-34G>A - IntronicSNV - 55/83 1
19-8999659-A-T c.40611-95T>A - IntronicSNV - 55/83 1
19-8999674-G-A c.40611-110C>T - IntronicSNV - 55/83 1
19-8999674-G-C c.40611-110C>G - IntronicSNV - 55/83 1
19-8999675-A-C c.40611-111T>G - IntronicSNV - 55/83 6
19-8999675-A-G c.40611-111T>C - IntronicSNV - 55/83 6
19-8999675-A-T c.40611-111T>A - IntronicSNV - 55/83 6
19-9000038-G-T c.40610+109C>A - IntronicSNV - 55/83 1
19-9000064-G-GT c.40610+82_40610+83insA - IntronicInsertion - 55/83 1
19-9000064-G-GTGCTGCGGACATCTCCTGGATTCCACCTGT c.40610+82_40610+83insACAGGTGGAATCCAGGAGATGTCCGCAGCA - IntronicInsertion - 55/83 1
19-9000063-T-TG c.40610+83dup - IntronicInsertion - 55/83 1
19-9000104-TC-T c.40610+43del - IntronicDeletion - 55/83 1
19-9000107-AACT-A c.40610+38_40610+40del - IntronicDeletion - 55/83 1
19-9000112-T-C c.40610+35A>G - IntronicSNV - 55/83 1
19-9000114-A-T c.40610+33T>A - IntronicSNV - 55/83 1
19-9000126-C-T c.40610+21G>A - IntronicSNV - 55/83 1
19-9000132-G-A c.40610+15C>T - IntronicSNV - 55/83 2
19-9000137-C-A c.40610+10G>T - IntronicSNV - 55/83 2
19-9000140-T-G c.40610+7A>C - IntronicSNV - 55/83 2
19-9000146-C-T c.40610+1G>A - IntronicSNV - 55/83 2
19-9000147-C-A c.40610G>T p.R13537M Missense 55/84 - 4
19-9000149-G-A c.40608C>T p.L13536= Synonymous 55/84 - 1
19-9000160-G-A c.40597C>T p.L13533= Synonymous 55/84 - 4
19-9000162-C-G c.40595G>C p.R13532T Missense 55/84 - 1
19-9000167-G-A c.40590C>T p.G13530= Synonymous 55/84 - 1
19-9000167-G-C c.40590C>G p.G13530= Synonymous 55/84 - 1
19-9000167-G-T c.40590C>A p.G13530= Synonymous 55/84 - 1
19-9000169-C-T c.40588G>A p.G13530S Missense 55/84 - 16
19-9000170-A-G c.40587T>C p.S13529= Synonymous 55/84 - 4
19-9000170-A-C c.40587T>G p.S13529= Synonymous 55/84 - 2
19-9000170-A-T c.40587T>A p.S13529= Synonymous 55/84 - 2
19-9000174-T-C c.40583A>G p.Y13528C Missense 55/84 - 1
19-9000176-C-A c.40581G>T p.L13527= Synonymous 55/84 - 1
19-9000176-C-T c.40581G>A p.L13527= Synonymous 55/84 - 1
19-9000176-C-G c.40581G>C p.L13527= Synonymous 55/84 - 1
19-9000178-G-A c.40579C>T p.L13527= Synonymous 55/84 - 1
19-9000181-G-T c.40576C>A p.P13526T Missense 55/84 - 1
19-9000184-C-T c.40573G>A p.G13525S Missense 55/84 - 2
19-9000185-A-G c.40572T>C p.V13524= Synonymous 55/84 - 7
19-9000185-A-T c.40572T>A p.V13524= Synonymous 55/84 - 4
19-9000185-A-C c.40572T>G p.V13524= Synonymous 55/84 - 4
19-9000187-C-T c.40570G>A p.V13524I Missense 55/84 - 16
19-9000187-C-A c.40570G>T p.V13524F Missense 55/84 - 1
19-9000190-T-G c.40567A>C p.S13523R Missense 55/84 - 1
19-9000192-G-T c.40565C>A p.T13522N Missense 55/84 - 1
19-9000194-G-A c.40563C>T p.N13521= Synonymous 55/84 - 9
19-9000195-T-C c.40562A>G p.N13521S Missense 55/84 - 6
19-9000197-C-G c.40560G>C p.K13520N Missense 55/84 - 1
19-9000197-C-A c.40560G>T p.K13520N Missense 55/84 - 1
19-9000205-C-A c.40552G>T p.V13518L Missense 55/84 - 11
19-9000205-C-G c.40552G>C p.V13518L Missense 55/84 - 4
19-9000206-A-G c.40551T>C p.P13517= Synonymous 55/84 - 3
19-9000206-A-C c.40551T>G p.P13517= Synonymous 55/84 - 2
19-9000206-A-T c.40551T>A p.P13517= Synonymous 55/84 - 2
19-9000207-G-A c.40550C>T p.P13517L Missense 55/84 - 8
19-9000209-C-G c.40548G>C p.R13516S Missense 55/84 - 1
19-9000209-C-A c.40548G>T p.R13516S Missense 55/84 - 1
19-9000210-C-T c.40547G>A p.R13516K Missense 55/84 - 5
19-9000218-T-C c.40543-4A>G - IntronicSNV - 54/83 1
19-9000219-G-A c.40543-5C>T - IntronicSNV - 54/83 1
19-9000240-G-A c.40543-26C>T - IntronicSNV - 54/83 1
19-9000240-G-T c.40543-26C>A - IntronicSNV - 54/83 1
19-9000326-G-C c.40543-112C>G - IntronicSNV - 54/83 9
19-9000437-C-T c.40542+5G>A - IntronicSNV - 54/83 1
19-9000441-C-T c.40542+1G>A - IntronicSNV - 54/83 1
19-9000442-C-A c.40542G>T p.L13514= Synonymous 54/84 - 1
19-9000442-C-T c.40542G>A p.L13514= Synonymous 54/84 - 1
19-9000442-C-G c.40542G>C p.L13514= Synonymous 54/84 - 1
19-9000444-G-A c.40540C>T p.L13514= Synonymous 54/84 - 1
19-9000446-C-T c.40538G>A p.G13513D Missense 54/84 - 1
19-9000447-C-T c.40537G>A p.G13513S Missense 54/84 - 5
19-9000453-G-A c.40531C>T p.L13511F Missense 54/84 - 4
19-9000454-G-T c.40530C>A p.V13510= Synonymous 54/84 - 4
19-9000454-G-A c.40530C>T p.V13510= Synonymous 54/84 - 3
19-9000454-G-C c.40530C>G p.V13510= Synonymous 54/84 - 1
19-9000455-A-G c.40529T>C p.V13510A Missense 54/84 - 1
19-9000458-C-T c.40526G>A p.R13509K Missense 54/84 - 4
19-9000458-C-G c.40526G>C p.R13509T Missense 54/84 - 1
19-9000460-C-T c.40524G>A p.E13508= Synonymous 54/84 - 4
19-9000462-C-T c.40522G>A p.E13508K Missense 54/84 - 3
19-9000463-C-T c.40521G>A p.T13507= Synonymous 54/84 - 5
19-9000463-C-A c.40521G>T p.T13507= Synonymous 54/84 - 4
19-9000463-C-G c.40521G>C p.T13507= Synonymous 54/84 - 4
19-9000464-G-A c.40520C>T p.T13507M Missense 54/84 - 5
19-9000467-G-A c.40517C>T p.T13506I Missense 54/84 - 1
19-9000467-G-C c.40517C>G p.T13506S Missense 54/84 - 1
19-9000468-T-A c.40516A>T p.T13506S Missense 54/84 - 1
19-9000468-T-C c.40516A>G p.T13506A Missense 54/84 - 4
19-9000474-A-C c.40510T>G p.F13504V Missense 54/84 - 2
19-9000475-C-T c.40509G>A p.K13503= Synonymous 54/84 - 4
19-9000488-G-T c.40496C>A p.P13499H Missense 54/84 - 1
19-9000490-G-A c.40494C>T p.H13498= Synonymous 54/84 - 1
19-9000495-G-T c.40489C>A p.H13497N Missense 54/84 - 2
19-9000496-C-A c.40488G>T p.M13496I Missense 54/84 - 3
19-9000496-C-G c.40488G>C p.M13496I Missense 54/84 - 2
19-9000496-C-T c.40488G>A p.M13496I Missense 54/84 - 2
19-9000497-A-T c.40487T>A p.M13496K Missense 54/84 - 1
19-9000497-A-G c.40487T>C p.M13496T Missense 54/84 - 1
19-9000503-T-C c.40481A>G p.E13494G Missense 54/84 - 1
19-9000504-C-T c.40480G>A p.E13494K Missense 54/84 - 6
19-9000507-C-T c.40477G>A p.E13493K Missense 54/84 - 1
19-9000510-A-T c.40474T>A p.Y13492N Missense 54/84 - 1
19-9000511-C-A c.40473G>T p.R13491= Synonymous 54/84 - 2
19-9000513-G-C c.40471C>G p.R13491G Missense 54/84 - 4
19-9000513-G-A c.40471C>T p.R13491W Missense 54/84 - 1
19-9000514-GCAGGTT-G c.40465_40470del p.N13489_L13490del InFrameDeletion 54/84 - 2
19-9000517-G-A c.40467C>T p.N13489= Synonymous 54/84 - 1
19-9000514-CAGGTT-C c.40465_40469del p.N13489Afs*3 Frameshift 54/84 - 3
19-9000518-T-C c.40466A>G p.N13489S Missense 54/84 - 5
19-9000520-A-T c.40464T>A p.T13488= Synonymous 54/84 - 2
19-9000520-A-C c.40464T>G p.T13488= Synonymous 54/84 - 2
19-9000520-A-G c.40464T>C p.T13488= Synonymous 54/84 - 2
19-9000532-G-T c.40452C>A p.N13484K Missense 54/84 - 1
19-9000548-A-T c.40436T>A p.V13479E Missense 54/84 - 1
19-9000549-C-T c.40435G>A p.V13479M Missense 54/84 - 1
19-9000552-G-T c.40432C>A p.L13478M Missense 54/84 - 1
19-9000553-G-A c.40431C>T p.L13477= Synonymous 54/84 - 4
19-9000555-G-C c.40429C>G p.L13477V Missense 54/84 - 2
19-9000557-G-A c.40427C>T p.P13476L Missense 54/84 - 11
19-9000559-G-A c.40425C>T p.S13475= Synonymous 54/84 - 2
19-9000561-T-A c.40423A>T p.S13475C Missense 54/84 - 1
19-9000565-G-T c.40419C>A p.T13473= Synonymous 54/84 - 1
19-9000565-G-C c.40419C>G p.T13473= Synonymous 54/84 - 1
19-9000565-G-A c.40419C>T p.T13473= Synonymous 54/84 - 2
19-9000566-G-A c.40418C>T p.T13473I Missense 54/84 - 1
19-9000686-C-T c.40418-120G>A - IntronicSNV - 53/83 1
19-9000757-C-T c.40418-191G>A - IntronicSNV - 53/83 2
19-9000852-C-A c.40418-286G>T - IntronicSNV - 53/83 1
19-9001209-T-C c.40417+622A>G - IntronicSNV - 53/83 1
19-9001570-C-T c.40417+261G>A - IntronicSNV - 53/83 1
19-9001639-T-C c.40417+192A>G - IntronicSNV - 53/83 1
19-9001822-A-G c.40417+9T>C - IntronicSNV - 53/83 10
19-9001833-A-G c.40415T>C p.M13472T Missense 53/84 - 29
19-9001833-ATG-GTA c.40413_40415delinsTAC p.M13472T Missense 53/84 - 1
19-9001835-G-A c.40413C>T p.P13471= Synonymous 53/84 - 18
19-9001835-G-C c.40413C>G p.P13471= Synonymous 53/84 - 1
19-9001835-G-T c.40413C>A p.P13471= Synonymous 53/84 - 1
19-9001842-G-A c.40406C>T p.S13469F Missense 53/84 - 1
19-9001846-G-A c.40402C>T p.L13468= Synonymous 53/84 - 2
19-9001846-G-C c.40402C>G p.L13468V Missense 53/84 - 1
19-9001847-G-A c.40401C>T p.S13467= Synonymous 53/84 - 1
19-9001848-G-A c.40400C>T p.S13467F Missense 53/84 - 2
19-9001854-G-A c.40394C>T p.P13465L Missense 53/84 - 1
19-9001855-G-T c.40393C>A p.P13465T Missense 53/84 - 2
19-9001859-T-C c.40389A>G p.R13463= Synonymous 53/84 - 3
19-9001861-T-G c.40387A>C p.R13463= Synonymous 53/84 - 2
19-9001862-C-A c.40386G>T p.S13462= Synonymous 53/84 - 3
19-9001862-C-G c.40386G>C p.S13462= Synonymous 53/84 - 4
19-9001862-C-T c.40386G>A p.S13462= Synonymous 53/84 - 4
19-9001863-G-A c.40385C>T p.S13462L Missense 53/84 - 1
19-9001868-T-A c.40380A>T p.A13460= Synonymous 53/84 - 1
19-9001869-G-A c.40379C>T p.A13460V Missense 53/84 - 2
19-9001873-G-A c.40375C>T p.L13459= Synonymous 53/84 - 1
19-9001881-G-C c.40367C>G p.T13456R Missense 53/84 - 1
19-9001882-T-A c.40366A>T p.T13456S Missense 53/84 - 1
19-9001882-T-C c.40366A>G p.T13456A Missense 53/84 - 1
19-9001884-G-A c.40364C>T p.S13455F Missense 53/84 - 2
19-9001886-G-T c.40362C>A p.T13454= Synonymous 53/84 - 1
19-9001894-G-A c.40354C>T p.P13452S Missense 53/84 - 6
19-9001896-G-A c.40352C>T p.T13451I Missense 53/84 - 1
19-9001986-C-A c.40352-90G>T - IntronicSNV - 52/83 8
19-9002028-AG-A c.40351+124del - IntronicDeletion - 52/83 1
19-9002038-C-T c.40351+115G>A - IntronicSNV - 52/83 1
19-9002045-T-C c.40351+108A>G - IntronicSNV - 52/83 1
19-9002049-T-C c.40351+104A>G - IntronicSNV - 52/83 1
19-9002050-C-G c.40351+103G>C - IntronicSNV - 52/83 1
19-9002051-CTT-C c.40351+101_40351+102del - IntronicDeletion - 52/83 1
19-9002072-T-C c.40351+81A>G - IntronicSNV - 52/83 1
19-9002076-G-A c.40351+77C>T - IntronicSNV - 52/83 1
19-9002080-C-G c.40351+73G>C - IntronicSNV - 52/83 1
19-9002113-A-G c.40351+40T>C - IntronicSNV - 52/83 9
19-9002154-T-G c.40350A>C p.R13450S Missense 52/84 - 1
19-9002161-G-A c.40343C>T p.T13448I Missense 52/84 - 1
19-9002163-C-T c.40341G>A p.T13447= Synonymous 52/84 - 1
19-9002163-C-A c.40341G>T p.T13447= Synonymous 52/84 - 1
19-9002163-C-G c.40341G>C p.T13447= Synonymous 52/84 - 1
19-9002164-G-A c.40340C>T p.T13447M Missense 52/84 - 1
19-9002170-G-T c.40334C>A p.S13445Y Missense 52/84 - 1
19-9002175-C-G c.40329G>C p.Q13443H Missense 52/84 - 4
19-9002175-C-A c.40329G>T p.Q13443H Missense 52/84 - 3
19-9002182-G-A c.40322C>T p.T13441I Missense 52/84 - 4
19-9002183-T-G c.40321A>C p.T13441P Missense 52/84 - 3
19-9002184-G-A c.40320C>T p.F13440= Synonymous 52/84 - 5
19-9002221-G-A c.40316-33C>T - IntronicSNV - 51/83 1
19-9002275-C-G c.40316-87G>C - IntronicSNV - 51/83 1
19-9002275-C-T c.40316-87G>A - IntronicSNV - 51/83 1
19-9002350-A-C c.40315+151T>G - IntronicSNV - 51/83 1
19-9002355-G-A c.40315+146C>T - IntronicSNV - 51/83 1
19-9002359-C-T c.40315+142G>A - IntronicSNV - 51/83 1
19-9002360-C-A c.40315+141G>T - IntronicSNV - 51/83 1
19-9002362-C-T c.40315+139G>A - IntronicSNV - 51/83 1
19-9002369-T-C c.40315+132A>G - IntronicSNV - 51/83 1
19-9002371-G-A c.40315+130C>T - IntronicSNV - 51/83 1
19-9002374-C-A c.40315+127G>T - IntronicSNV - 51/83 1
19-9002376-T-C c.40315+125A>G - IntronicSNV - 51/83 1
19-9002378-G-A c.40315+123C>T - IntronicSNV - 51/83 1
19-9002379-C-T c.40315+122G>A - IntronicSNV - 51/83 1
19-9002382-C-T c.40315+119G>A - IntronicSNV - 51/83 1
19-9002401-T-C c.40315+100A>G - IntronicSNV - 51/83 1
19-9002402-T-A c.40315+99A>T - IntronicSNV - 51/83 1
19-9002406-C-G c.40315+95G>C - IntronicSNV - 51/83 1
19-9002413-T-C c.40315+88A>G - IntronicSNV - 51/83 1
19-9002414-A-G c.40315+87T>C - IntronicSNV - 51/83 1
19-9002415-G-T c.40315+86C>A - IntronicSNV - 51/83 1
19-9002421-C-T c.40315+80G>A - IntronicSNV - 51/83 1
19-9002422-G-A c.40315+79C>T - IntronicSNV - 51/83 2
19-9002430-T-C c.40315+71A>G - IntronicSNV - 51/83 2
19-9002434-C-T c.40315+67G>A - IntronicSNV - 51/83 2
19-9002438-G-A c.40315+63C>T - IntronicSNV - 51/83 2
19-9002440-C-T c.40315+61G>A - IntronicSNV - 51/83 6
19-9002447-A-G c.40315+54T>C - IntronicSNV - 51/83 2
19-9002448-T-G c.40315+53A>C - IntronicSNV - 51/83 2
19-9002451-A-G c.40315+50T>C - IntronicSNV - 51/83 2
19-9002454-C-T c.40315+47G>A - IntronicSNV - 51/83 2
19-9002493-T-C c.40315+8A>G - IntronicSNV - 51/83 12
19-9002493-T-G c.40315+8A>C - IntronicSNV - 51/83 5
19-9002496-C-T c.40315+5G>A - IntronicSNV - 51/83 1
19-9002500-C-T c.40315+1G>A - IntronicSNV - 51/83 1
19-9002504-T-C c.40312A>G p.N13438D Missense 51/84 - 21
19-9002505-G-T c.40311C>A p.V13437= Synonymous 51/84 - 1
19-9002511-G-A c.40305C>T p.L13435= Synonymous 51/84 - 1
19-9002511-G-C c.40305C>G p.L13435= Synonymous 51/84 - 1
19-9002511-G-T c.40305C>A p.L13435= Synonymous 51/84 - 1
19-9002519-G-C c.40297C>G p.H13433D Missense 51/84 - 21
19-9002521-C-T c.40295G>A p.R13432K Missense 51/84 - 2
19-9002521-C-G c.40295G>C p.R13432T Missense 51/84 - 1
19-9002525-C-T c.40291G>A p.D13431N Missense 51/84 - 1
19-9002529-G-A c.40287C>T p.T13429= Synonymous 51/84 - 1
19-9002540-C-A c.40276G>T p.G13426C Missense 51/84 - 5
19-9002544-C-T c.40272G>A p.E13424= Synonymous 51/84 - 1
19-9002546-C-T c.40270G>A p.E13424K Missense 51/84 - 2
19-9002547-A-T c.40269T>A p.T13423= Synonymous 51/84 - 1
19-9002547-A-C c.40269T>G p.T13423= Synonymous 51/84 - 1
19-9002547-A-G c.40269T>C p.T13423= Synonymous 51/84 - 1
19-9002550-G-T c.40266C>A p.I13422= Synonymous 51/84 - 2
19-9002550-G-A c.40266C>T p.I13422= Synonymous 51/84 - 1
19-9002554-C-T c.40262G>A p.G13421D Missense 51/84 - 1
19-9002555-C-A c.40261G>T p.G13421C Missense 51/84 - 1
19-9002558-G-T c.40258C>A p.H13420N Missense 51/84 - 4
19-9002571-C-A c.40245G>T p.L13415= Synonymous 51/84 - 1
19-9002571-C-T c.40245G>A p.L13415= Synonymous 51/84 - 1
19-9002571-C-G c.40245G>C p.L13415= Synonymous 51/84 - 1
19-9002573-G-A c.40243C>T p.L13415= Synonymous 51/84 - 1
19-9002575-T-C c.40241A>G p.K13414R Missense 51/84 - 1
19-9002576-T-C c.40240A>G p.K13414E Missense 51/84 - 22
19-9002577-C-T c.40239G>A p.W13413* Nonsense 51/84 - 2
19-9002582-A-C c.40234T>G p.Y13412D Missense 51/84 - 1
19-9002583-C-T c.40233G>A p.L13411= Synonymous 51/84 - 2
19-9002583-C-A c.40233G>T p.L13411= Synonymous 51/84 - 1
19-9002583-C-G c.40233G>C p.L13411= Synonymous 51/84 - 1
19-9002585-G-A c.40231C>T p.L13411= Synonymous 51/84 - 1
19-9002584-A-T c.40232T>A p.L13411Q Missense 51/84 - 2
19-9002587-C-T c.40229G>A p.R13410Q Missense 51/84 - 16
19-9002587-C-A c.40229G>T p.R13410L Missense 51/84 - 2
19-9002587-CG-TT c.40228_40229delinsAA p.R13410K Missense 51/84 - 1
19-9002588-G-A c.40228C>T p.R13410W Missense 51/84 - 1
19-9002589-C-T c.40227G>A p.E13409= Synonymous 51/84 - 1
19-9002590-T-C c.40226A>G p.E13409G Missense 51/84 - 2
19-9002591-C-T c.40225G>A p.E13409K Missense 51/84 - 3
19-9002591-C-G c.40225G>C p.E13409Q Missense 51/84 - 1
19-9002597-C-T c.40219G>A p.D13407N Missense 51/84 - 20
19-9002602-C-T c.40214G>A p.G13405E Missense 51/84 - 1
19-9002602-C-G c.40214G>C p.G13405A Missense 51/84 - 1
19-9002606-G-A c.40210C>T p.P13404S Missense 51/84 - 3
19-9002606-G-GACCA c.40209_40210insTGGT p.P13404Wfs*22 Frameshift 51/84 - 1
19-9002607-G-A c.40209C>T p.S13403= Synonymous 51/84 - 1
19-9002608-C-A c.40208G>T p.S13403I Missense 51/84 - 5
19-9002608-GCTTT-G c.40205_40208del p.K13402Tfs*13 Frameshift 51/84 - 1
19-9002612-T-G c.40204A>C p.K13402Q Missense 51/84 - 13
19-9002612-T-A c.40204A>T p.K13402* Nonsense 51/84 - 1
19-9002613-G-A c.40203C>T p.P13401= Synonymous 51/84 - 9
19-9002613-G-C c.40203C>G p.P13401= Synonymous 51/84 - 1
19-9002613-G-T c.40203C>A p.P13401= Synonymous 51/84 - 1
19-9002616-G-A c.40200C>T p.D13400= Synonymous 51/84 - 1
19-9002616-G-C c.40200C>G p.D13400E Missense 51/84 - 1
19-9002616-G-T c.40200C>A p.D13400E Missense 51/84 - 1
19-9002617-T-G c.40199A>C p.D13400A Missense 51/84 - 1
19-9002619-A-AAGGC c.40196_40197insGCCT p.D13400Pfs*2 Frameshift 51/84 - 1
19-9002622-A-G c.40194T>C p.R13398= Synonymous 51/84 - 4
19-9002622-GAC-G c.40193_40194del p.R13398Pfs*2 Frameshift 51/84 - 1
19-9002623-C-T c.40193G>A p.R13398H Missense 51/84 - 8
19-9002623-ACGAT-A c.40190_40193del p.H13397Lfs*18 Frameshift 51/84 - 1
19-9002624-G-A c.40192C>T p.R13398C Missense 51/84 - 16
19-9002624-G-T c.40192C>A p.R13398S Missense 51/84 - 1
19-9002625-A-G c.40191T>C p.H13397= Synonymous 51/84 - 8
19-9002627-G-A c.40189C>T p.H13397Y Missense 51/84 - 1
19-9002631-G-A c.40185C>T p.C13395= Synonymous 51/84 - 7
19-9002634-G-A c.40182C>T p.V13394= Synonymous 51/84 - 2
19-9002634-G-T c.40182C>A p.V13394= Synonymous 51/84 - 1
19-9002634-G-C c.40182C>G p.V13394= Synonymous 51/84 - 1
19-9002636-C-T c.40180G>A p.V13394I Missense 51/84 - 6
19-9002637-A-G c.40179T>C p.A13393= Synonymous 51/84 - 2
19-9002640-A-G c.40176T>C p.D13392= Synonymous 51/84 - 1
19-9002641-T-C c.40175A>G p.D13392G Missense 51/84 - 3
19-9002643-C-T c.40173G>A p.V13391= Synonymous 51/84 - 2
19-9002643-C-G c.40173G>C p.V13391= Synonymous 51/84 - 1
19-9002643-C-A c.40173G>T p.V13391= Synonymous 51/84 - 1
19-9002648-T-C c.40168A>G p.R13390G Missense 51/84 - 1
19-9002649-G-T c.40167C>A p.T13389= Synonymous 51/84 - 1
19-9002649-G-C c.40167C>G p.T13389= Synonymous 51/84 - 1
19-9002649-G-A c.40167C>T p.T13389= Synonymous 51/84 - 1
19-9002659-C-T c.40157G>A p.G13386E Missense 51/84 - 5
19-9002659-C-A c.40157G>T p.G13386V Missense 51/84 - 2
19-9002660-C-T c.40156G>A p.G13386R Missense 51/84 - 6
19-9002660-C-G c.40156G>C p.G13386R Missense 51/84 - 2
19-9002660-C-A c.40156G>T p.G13386W Missense 51/84 - 1
19-9002661-A-G c.40155T>C p.D13385= Synonymous 51/84 - 2
19-9002663-C-G c.40153G>C p.D13385H Missense 51/84 - 1
19-9002667-C-A c.40149G>T p.E13383D Missense 51/84 - 1
19-9002668-T-C c.40148A>G p.E13383G Missense 51/84 - 2
19-9002669-C-T c.40147G>A p.E13383K Missense 51/84 - 3
19-9002670-A-T c.40146T>A p.P13382= Synonymous 51/84 - 7
19-9002670-A-C c.40146T>G p.P13382= Synonymous 51/84 - 3
19-9002670-A-G c.40146T>C p.P13382= Synonymous 51/84 - 2
19-9002672-G-A c.40144C>T p.P13382S Missense 51/84 - 2
19-9002673-C-T c.40143G>A p.R13381= Synonymous 51/84 - 1
19-9002680-A-G c.40143-7T>C - IntronicSNV - 50/83 1
19-9002680-A-T c.40143-7T>A - IntronicSNV - 50/83 1
19-9002687-A-G c.40143-14T>C - IntronicSNV - 50/83 1
19-9002706-A-G c.40143-33T>C - IntronicSNV - 50/83 1
19-9002711-T-C c.40143-38A>G - IntronicSNV - 50/83 1
19-9002910-A-G c.40143-237T>C - IntronicSNV - 50/83 2
19-9003194-G-A c.40142+99C>T - IntronicSNV - 50/83 1
19-9003217-GA-G c.40142+75del - IntronicDeletion - 50/83 2
19-9003290-C-A c.40142+3G>T - IntronicSNV - 50/83 1
19-9003293-C-T c.40142G>A p.R13381K Missense 50/84 - 2
19-9003299-A-T c.40136T>A p.L13379* Nonsense 50/84 - 1
19-9003310-G-T c.40125C>A p.C13375* Nonsense 50/84 - 1
19-9003313-A-C c.40122T>G p.G13374= Synonymous 50/84 - 2
19-9003313-A-T c.40122T>A p.G13374= Synonymous 50/84 - 2
19-9003313-A-G c.40122T>C p.G13374= Synonymous 50/84 - 2
19-9003314-C-T c.40121G>A p.G13374D Missense 50/84 - 1
19-9003319-G-C c.40116C>G p.Y13372* Nonsense 50/84 - 1
19-9003322-C-T c.40113G>A p.L13371= Synonymous 50/84 - 1
19-9003323-A-G c.40112T>C p.L13371P Missense 50/84 - 1
19-9003324-G-T c.40111C>A p.L13371M Missense 50/84 - 2
19-9003327-A-G c.40108T>C p.S13370P Missense 50/84 - 1
19-9003333-C-T c.40102G>A p.V13368I Missense 50/84 - 1
19-9003335-C-T c.40100G>A p.S13367N Missense 50/84 - 1
19-9003338-G-C c.40097C>G p.T13366S Missense 50/84 - 1
19-9003346-G-T c.40089C>A p.F13363L Missense 50/84 - 2
19-9003348-A-G c.40087T>C p.F13363L Missense 50/84 - 1
19-9003346-G-C c.40089C>G p.F13363L Missense 50/84 - 1
19-9003348-A-C c.40087T>G p.F13363V Missense 50/84 - 1
19-9003351-A-T c.40084T>A p.L13362M Missense 50/84 - 1
19-9003351-A-G c.40084T>C p.L13362= Synonymous 50/84 - 1
19-9003353-G-A c.40082C>T p.P13361L Missense 50/84 - 1
19-9003490-C-T c.40074+76G>A - IntronicSNV - 49/83 1
19-9003493-TGG-T c.40074+72_40074+73del - IntronicDeletion - 49/83 1
19-9003498-T-G c.40074+68A>C - IntronicSNV - 49/83 1
19-9003512-GTT-G c.40074+53_40074+54del - IntronicDeletion - 49/83 1
19-9003521-C-T c.40074+45G>A - IntronicSNV - 49/83 1
19-9003523-A-T c.40074+43T>A - IntronicSNV - 49/83 1
19-9003529-C-G c.40074+37G>C - IntronicSNV - 49/83 1
19-9003532-GGGA-G c.40074+31_40074+33del - IntronicDeletion - 49/83 1
19-9003546-A-G c.40074+20T>C - IntronicSNV - 49/83 1
19-9003549-T-A c.40074+17A>T - IntronicSNV - 49/83 1
19-9003553-GACA-G c.40074+11_40074+13del - IntronicDeletion - 49/83 1
19-9003555-AGG-A c.40074+9_40074+10del - IntronicDeletion - 49/83 1
19-9003566-C-T c.40074G>A p.L13358= Synonymous 49/84 - 1
19-9003568-G-A c.40072C>T p.L13358= Synonymous 49/84 - 1
19-9003570-C-T c.40070G>A p.G13357D Missense 49/84 - 3
19-9003572-C-T c.40068G>A p.Q13356= Synonymous 49/84 - 2
19-9003574-G-T c.40066C>A p.Q13356K Missense 49/84 - 1
19-9003575-A-T c.40065T>A p.L13355= Synonymous 49/84 - 3
19-9003575-A-C c.40065T>G p.L13355= Synonymous 49/84 - 2
19-9003575-A-G c.40065T>C p.L13355= Synonymous 49/84 - 1
19-9003577-G-A c.40063C>T p.L13355F Missense 49/84 - 5
19-9003578-G-A c.40062C>T p.V13354= Synonymous 49/84 - 3
19-9003578-G-T c.40062C>A p.V13354= Synonymous 49/84 - 2
19-9003578-G-C c.40062C>G p.V13354= Synonymous 49/84 - 2
19-9003580-C-T c.40060G>A p.V13354I Missense 49/84 - 2
19-9003586-C-T c.40054G>A p.E13352K Missense 49/84 - 6
19-9003587-C-T c.40053G>A p.T13351= Synonymous 49/84 - 1
19-9003588-G-A c.40052C>T p.T13351M Missense 49/84 - 6
19-9003593-G-A c.40047C>T p.N13349= Synonymous 49/84 - 2
19-9003602-C-T c.40038G>A p.R13346= Synonymous 49/84 - 3
19-9003603-C-T c.40037G>A p.R13346K Missense 49/84 - 6
19-9003606-G-A c.40034C>T p.S13345F Missense 49/84 - 2
19-9003608-G-A c.40032C>T p.G13344= Synonymous 49/84 - 5
19-9003608-G-C c.40032C>G p.G13344= Synonymous 49/84 - 3
19-9003608-G-T c.40032C>A p.G13344= Synonymous 49/84 - 3
19-9003614-G-T c.40026C>A p.R13342= Synonymous 49/84 - 2
19-9003614-G-C c.40026C>G p.R13342= Synonymous 49/84 - 2
19-9003614-G-A c.40026C>T p.R13342= Synonymous 49/84 - 2
19-9003615-C-T c.40025G>A p.R13342H Missense 49/84 - 11
19-9003616-G-A c.40024C>T p.R13342C Missense 49/84 - 5
19-9003617-A-T c.40023T>A p.R13341= Synonymous 49/84 - 3
19-9003617-AC-TT c.40022_40023delinsAA p.R13341Q Missense 49/84 - 1
19-9003617-A-G c.40023T>C p.R13341= Synonymous 49/84 - 2
19-9003617-A-C c.40023T>G p.R13341= Synonymous 49/84 - 2
19-9003618-C-T c.40022G>A p.R13341H Missense 49/84 - 33
19-9003620-C-G c.40020G>C p.M13340I Missense 49/84 - 1
19-9003620-C-T c.40020G>A p.M13340I Missense 49/84 - 1
19-9003620-C-A c.40020G>T p.M13340I Missense 49/84 - 1
19-9003624-T-C c.40016A>G p.D13339G Missense 49/84 - 1
19-9003624-T-G c.40016A>C p.D13339A Missense 49/84 - 1
19-9003625-C-G c.40015G>C p.D13339H Missense 49/84 - 1
19-9003625-C-T c.40015G>A p.D13339N Missense 49/84 - 1
19-9003629-C-T c.40011G>A p.E13337= Synonymous 49/84 - 2
19-9003630-T-G c.40010A>C p.E13337A Missense 49/84 - 3
19-9003635-C-A c.40005G>T p.Q13335H Missense 49/84 - 2
19-9003635-C-G c.40005G>C p.Q13335H Missense 49/84 - 2
19-9003636-T-G c.40004A>C p.Q13335P Missense 49/84 - 1
19-9003638-C-A c.40002G>T p.L13334= Synonymous 49/84 - 2
19-9003638-C-T c.40002G>A p.L13334= Synonymous 49/84 - 2
19-9003638-C-G c.40002G>C p.L13334= Synonymous 49/84 - 2
19-9003640-G-A c.40000C>T p.L13334= Synonymous 49/84 - 3
19-9003640-G-T c.40000C>A p.L13334M Missense 49/84 - 8
19-9003644-A-G c.39996T>C p.T13332= Synonymous 49/84 - 7
19-9003644-A-T c.39996T>A p.T13332= Synonymous 49/84 - 5
19-9003644-A-C c.39996T>G p.T13332= Synonymous 49/84 - 5
19-9003645-G-A c.39995C>T p.T13332I Missense 49/84 - 32
19-9003647-G-T c.39993C>A p.I13331= Synonymous 49/84 - 1
19-9003647-G-A c.39993C>T p.I13331= Synonymous 49/84 - 1
19-9003650-G-T c.39990C>A p.T13330= Synonymous 49/84 - 1
19-9003650-G-C c.39990C>G p.T13330= Synonymous 49/84 - 1
19-9003650-G-A c.39990C>T p.T13330= Synonymous 49/84 - 1
19-9003653-A-G c.39987T>C p.F13329= Synonymous 49/84 - 4
19-9003656-A-G c.39984T>C p.N13328= Synonymous 49/84 - 2
19-9003657-T-G c.39983A>C p.N13328T Missense 49/84 - 3
19-9003659-G-T c.39981C>A p.L13327= Synonymous 49/84 - 5
19-9003659-G-A c.39981C>T p.L13327= Synonymous 49/84 - 1
19-9003659-G-C c.39981C>G p.L13327= Synonymous 49/84 - 1
19-9003665-G-A c.39975C>T p.F13325= Synonymous 49/84 - 1
19-9003671-C-T c.39969G>A p.L13323= Synonymous 49/84 - 1
19-9003676-G-A c.39964C>T p.L13322= Synonymous 49/84 - 1
19-9003677-G-A c.39963C>T p.V13321= Synonymous 49/84 - 1
19-9003681-G-A c.39959C>T p.P13320L Missense 49/84 - 1
19-9003706-T-A c.39950-16A>T - IntronicSNV - 48/83 9
19-9003706-T-C c.39950-16A>G - IntronicSNV - 48/83 9
19-9003706-T-G c.39950-16A>C - IntronicSNV - 48/83 9
19-9003749-G-T c.39950-59C>A - IntronicSNV - 48/83 5
19-9004587-C-T c.39949+282G>A - IntronicSNV - 48/83 2
19-9004869-C-T c.39949G>A p.A13317T Missense 48/84 - 2
19-9004870-CTGT-C c.39946_39948del p.T13316del InFrameDeletion 48/84 - 1
19-9004878-C-T c.39940G>A p.G13314S Missense 48/84 - 3
19-9004880-G-A c.39938C>T p.P13313L Missense 48/84 - 2
19-9004880-G-T c.39938C>A p.P13313H Missense 48/84 - 2
19-9004881-G-A c.39937C>T p.P13313S Missense 48/84 - 5
19-9004885-G-A c.39933C>T p.S13311= Synonymous 48/84 - 2
19-9004886-G-A c.39932C>T p.S13311F Missense 48/84 - 4
19-9004897-C-T c.39921G>A p.E13307= Synonymous 48/84 - 4
19-9004900-A-T c.39918T>A p.S13306= Synonymous 48/84 - 2
19-9004907-T-C c.39911A>G p.E13304G Missense 48/84 - 1
19-9004908-C-T c.39910G>A p.E13304K Missense 48/84 - 2
19-9004909-C-A c.39909G>T p.P13303= Synonymous 48/84 - 1
19-9004909-C-T c.39909G>A p.P13303= Synonymous 48/84 - 2
19-9004910-G-A c.39908C>T p.P13303L Missense 48/84 - 4
19-9004919-G-T c.39899C>A p.T13300K Missense 48/84 - 1
19-9004919-G-A c.39899C>T p.T13300I Missense 48/84 - 1
19-9004927-C-T c.39891G>A p.G13297= Synonymous 48/84 - 1
19-9004931-G-A c.39887C>T p.P13296L Missense 48/84 - 2
19-9004932-G-A c.39886C>T p.P13296S Missense 48/84 - 3
19-9005041-T-C c.39884-107A>G - IntronicSNV - 47/83 6
19-9005184-G-A c.39883+10C>T - IntronicSNV - 47/83 1
19-9005198-G-T c.39879C>A p.T13293= Synonymous 47/84 - 1
19-9005198-G-C c.39879C>G p.T13293= Synonymous 47/84 - 1
19-9005198-G-A c.39879C>T p.T13293= Synonymous 47/84 - 1
19-9005200-T-C c.39877A>G p.T13293A Missense 47/84 - 1
19-9005201-G-A c.39876C>T p.T13292= Synonymous 47/84 - 1
19-9005204-G-A c.39873C>T p.P13291= Synonymous 47/84 - 1
19-9005205-G-A c.39872C>T p.P13291L Missense 47/84 - 4
19-9005206-G-A c.39871C>T p.P13291S Missense 47/84 - 5
19-9005210-A-C c.39867T>G p.S13289= Synonymous 47/84 - 1
19-9005210-A-G c.39867T>C p.S13289= Synonymous 47/84 - 1
19-9005210-A-T c.39867T>A p.S13289= Synonymous 47/84 - 1
19-9005211-G-A c.39866C>T p.S13289F Missense 47/84 - 1
19-9005212-A-G c.39865T>C p.S13289P Missense 47/84 - 1
19-9005217-C-T c.39860G>A p.R13287Q Missense 47/84 - 3
19-9005218-G-A c.39859C>T p.R13287W Missense 47/84 - 2
19-9005219-C-A c.39858G>T p.Q13286H Missense 47/84 - 2
19-9005219-C-G c.39858G>C p.Q13286H Missense 47/84 - 2
19-9005222-G-T c.39855C>A p.T13285= Synonymous 47/84 - 1
19-9005222-G-C c.39855C>G p.T13285= Synonymous 47/84 - 1
19-9005222-G-A c.39855C>T p.T13285= Synonymous 47/84 - 3
19-9005223-G-A c.39854C>T p.T13285I Missense 47/84 - 6
19-9005225-G-A c.39852C>T p.F13284= Synonymous 47/84 - 3
19-9005229-C-A c.39848G>T p.G13283V Missense 47/84 - 1
19-9005503-G-C c.39847+56C>G - IntronicSNV - 46/83 1
19-9005505-G-A c.39847+54C>T - IntronicSNV - 46/83 1
19-9005511-G-T c.39847+48C>A - IntronicSNV - 46/83 2
19-9005511-G-C c.39847+48C>G - IntronicSNV - 46/83 1
19-9005512-C-T c.39847+47G>A - IntronicSNV - 46/83 4
19-9005512-C-A c.39847+47G>T - IntronicSNV - 46/83 2
19-9005513-T-A c.39847+46A>T - IntronicSNV - 46/83 2
19-9005514-G-C c.39847+45C>G - IntronicSNV - 46/83 2
19-9005514-G-A c.39847+45C>T - IntronicSNV - 46/83 1
19-9005520-G-A c.39847+39C>T - IntronicSNV - 46/83 1
19-9005520-G-C c.39847+39C>G - IntronicSNV - 46/83 1
19-9005521-C-A c.39847+38G>T - IntronicSNV - 46/83 2
19-9005521-C-T c.39847+38G>A - IntronicSNV - 46/83 1
19-9005527-A-G c.39847+32T>C - IntronicSNV - 46/83 1
19-9005537-T-C c.39847+22A>G - IntronicSNV - 46/83 1
19-9005548-G-C c.39847+11C>G - IntronicSNV - 46/83 4
19-9005556-T-C c.39847+3A>G - IntronicSNV - 46/83 6
19-9005558-C-T c.39847+1G>A - IntronicSNV - 46/83 1
19-9005559-C-CT c.39846_39847insA p.G13283Rfs*25 SpliceDonorInsertion 46/84 - 1
19-9005559-C-CG c.39846_39847insC p.G13283Rfs*25 SpliceDonorInsertion 46/84 - 1
19-9005559-C-CA c.39846dup p.G13283Wfs*25 SpliceDonorInsertion 46/84 - 1
19-9005571-G-A c.39835C>T p.L13279F Missense 46/84 - 2
19-9005577-C-T c.39829G>A p.D13277N Missense 46/84 - 1
19-9005581-A-G c.39825T>C p.D13275= Synonymous 46/84 - 1
19-9005583-C-T c.39823G>A p.D13275N Missense 46/84 - 3
19-9005584-C-T c.39822G>A p.L13274= Synonymous 46/84 - 1
19-9005591-T-C c.39815A>G p.Y13272C Missense 46/84 - 1
19-9005593-G-A c.39813C>T p.P13271= Synonymous 46/84 - 4
19-9005594-G-A c.39812C>T p.P13271L Missense 46/84 - 4
19-9005596-T-C c.39810A>G p.G13270= Synonymous 46/84 - 3
19-9005596-T-A c.39810A>T p.G13270= Synonymous 46/84 - 1
19-9005596-T-G c.39810A>C p.G13270= Synonymous 46/84 - 1
19-9005597-C-T c.39809G>A p.G13270E Missense 46/84 - 5
19-9005598-C-A c.39808G>T p.G13270* Nonsense 46/84 - 3
19-9005600-AG-GA c.39805_39806delinsTC p.L13269S Missense 46/84 - 1
19-9005604-C-T c.39802G>A p.E13268K Missense 46/84 - 1
19-9005605-A-T c.39801T>A p.T13267= Synonymous 46/84 - 9
19-9005605-A-C c.39801T>G p.T13267= Synonymous 46/84 - 7
19-9005605-A-G c.39801T>C p.T13267= Synonymous 46/84 - 3
19-9005608-G-T c.39798C>A p.I13266= Synonymous 46/84 - 1
19-9005608-G-A c.39798C>T p.I13266= Synonymous 46/84 - 1
19-9005612-C-T c.39794G>A p.S13265N Missense 46/84 - 1
19-9005616-G-T c.39790C>A p.H13264N Missense 46/84 - 12
19-9005617-G-A c.39789C>T p.T13263= Synonymous 46/84 - 4
19-9005621-A-C c.39785T>G p.L13262R Missense 46/84 - 1
19-9005631-G-A c.39775C>T p.L13259= Synonymous 46/84 - 4
19-9005634-C-T c.39772G>A p.E13258K Missense 46/84 - 3
19-9005636-C-A c.39770G>T p.W13257L Missense 46/84 - 1
19-9005638-G-A c.39768C>T p.Y13256= Synonymous 46/84 - 2
19-9005644-C-G c.39762G>C p.Q13254H Missense 46/84 - 1
19-9005645-T-C c.39761A>G p.Q13254R Missense 46/84 - 4
19-9005646-G-A c.39760C>T p.Q13254* Nonsense 46/84 - 3
19-9005646-G-T c.39760C>A p.Q13254K Missense 46/84 - 1
19-9005649-G-T c.39757C>A p.Q13253K Missense 46/84 - 1
19-9005649-G-C c.39757C>G p.Q13253E Missense 46/84 - 6
19-9005651-C-T c.39755G>A p.R13252K Missense 46/84 - 7
19-9005656-T-C c.39750A>G p.L13250= Synonymous 46/84 - 2
19-9005658-G-T c.39748C>A p.L13250I Missense 46/84 - 1
19-9005659-C-T c.39747G>A p.G13249= Synonymous 46/84 - 3
19-9005659-C-A c.39747G>T p.G13249= Synonymous 46/84 - 1
19-9005659-C-G c.39747G>C p.G13249= Synonymous 46/84 - 1
19-9005664-G-A c.39742C>T p.P13248S Missense 46/84 - 1
19-9005665-G-A c.39741C>T p.I13247= Synonymous 46/84 - 4
19-9005666-A-C c.39740T>G p.I13247S Missense 46/84 - 1
19-9005670-T-A c.39736A>T p.K13246* Nonsense 46/84 - 1
19-9005671-G-A c.39735C>T p.P13245= Synonymous 46/84 - 1
19-9005673-G-A c.39733C>T p.P13245S Missense 46/84 - 1
19-9005674-G-A c.39732C>T p.D13244= Synonymous 46/84 - 14
19-9005678-G-A c.39728C>T p.P13243L Missense 46/84 - 1
19-9005680-G-A c.39726C>T p.R13242= Synonymous 46/84 - 1
19-9005681-C-T c.39725G>A p.R13242H Missense 46/84 - 8
19-9005682-G-A c.39724C>T p.R13242C Missense 46/84 - 2
19-9005682-G-T c.39724C>A p.R13242S Missense 46/84 - 1
19-9005686-G-A c.39720C>T p.T13240= Synonymous 46/84 - 1
19-9005689-G-A c.39717C>T p.C13239= Synonymous 46/84 - 3
19-9005690-C-T c.39716G>A p.C13239Y Missense 46/84 - 1
19-9005692-G-A c.39714C>T p.I13238= Synonymous 46/84 - 2
19-9005694-T-C c.39712A>G p.I13238V Missense 46/84 - 1
19-9005697-C-T c.39709G>A p.A13237T Missense 46/84 - 6
19-9005698-G-A c.39708C>T p.D13236= Synonymous 46/84 - 7
19-9005704-T-G c.39702A>C p.R13234S Missense 46/84 - 1
19-9005705-C-G c.39701G>C p.R13234T Missense 46/84 - 1
19-9005706-T-C c.39700A>G p.R13234G Missense 46/84 - 2
19-9005707-G-T c.39699C>A p.T13233= Synonymous 46/84 - 1
19-9005707-G-C c.39699C>G p.T13233= Synonymous 46/84 - 1
19-9005707-G-A c.39699C>T p.T13233= Synonymous 46/84 - 1
19-9005714-A-C c.39692T>G p.V13231G Missense 46/84 - 2
19-9005714-A-G c.39692T>C p.V13231A Missense 46/84 - 3
19-9005716-T-C c.39690A>G p.G13230= Synonymous 46/84 - 2
19-9005716-T-G c.39690A>C p.G13230= Synonymous 46/84 - 1
19-9005718-C-T c.39688G>A p.G13230R Missense 46/84 - 13
19-9005718-C-G c.39688G>C p.G13230R Missense 46/84 - 8
19-9005718-C-A c.39688G>T p.G13230* Nonsense 46/84 - 1
19-9005719-A-G c.39687T>C p.D13229= Synonymous 46/84 - 20
19-9005719-A-T c.39687T>A p.D13229E Missense 46/84 - 3
19-9005722-C-T c.39684G>A p.K13228= Synonymous 46/84 - 2
19-9005723-T-G c.39683A>C p.K13228T Missense 46/84 - 1
19-9005725-C-T c.39681G>A p.E13227= Synonymous 46/84 - 1
19-9005728-A-T c.39678T>A p.P13226= Synonymous 46/84 - 1
19-9005731-C-T c.39675G>A p.R13225= Synonymous 46/84 - 2
19-9006345-T-G c.39673A>C p.R13225= Synonymous 45/84 - 1
19-9005735-G-A c.39675-4C>T - IntronicSNV - 45/83 1
19-9005748-A-G c.39675-17T>C - IntronicSNV - 45/83 1
19-9005757-G-A c.39675-26C>T - IntronicSNV - 45/83 1
19-9005767-A-G c.39675-36T>C - IntronicSNV - 45/83 1
19-9005786-T-C c.39675-55A>G - IntronicSNV - 45/83 1
19-9005884-C-T c.39675-153G>A - IntronicSNV - 45/83 1
19-9006296-A-G c.39674+48T>C - IntronicSNV - 45/83 1
19-9006301-A-C c.39674+43T>G - IntronicSNV - 45/83 1
19-9006301-A-G c.39674+43T>C - IntronicSNV - 45/83 1
19-9006306-T-C c.39674+38A>G - IntronicSNV - 45/83 1
19-9006310-C-A c.39674+34G>T - IntronicSNV - 45/83 1
19-9006310-C-T c.39674+34G>A - IntronicSNV - 45/83 1
19-9006318-CCA-C c.39674+24_39674+25del - IntronicDeletion - 45/83 1
19-9006324-T-A c.39674+20A>T - IntronicSNV - 45/83 1
19-9006337-G-T c.39674+7C>A - IntronicSNV - 45/83 1
19-9006337-G-A c.39674+7C>T - IntronicSNV - 45/83 1
19-9006343-C-T c.39674+1G>A - IntronicSNV - 45/83 1
19-9006351-A-T c.39667T>A p.L13223M Missense 45/84 - 3
19-9006359-C-G c.39659G>C p.R13220T Missense 45/84 - 3
19-9006363-A-G c.39655T>C p.C13219R Missense 45/84 - 5
19-9006365-C-T c.39653G>A p.G13218D Missense 45/84 - 1
19-9006365-C-A c.39653G>T p.G13218V Missense 45/84 - 1
19-9006368-G-A c.39650C>T p.S13217F Missense 45/84 - 2
19-9006370-A-G c.39648T>C p.Y13216= Synonymous 45/84 - 14
19-9006375-G-C c.39643C>G p.L13215V Missense 45/84 - 1
19-9006378-G-C c.39640C>G p.P13214A Missense 45/84 - 3
19-9006382-A-G c.39636T>C p.V13212= Synonymous 45/84 - 1
19-9006384-C-T c.39634G>A p.V13212I Missense 45/84 - 1
19-9006385-A-G c.39633T>C p.S13211= Synonymous 45/84 - 8
19-9006389-G-A c.39629C>T p.T13210I Missense 45/84 - 2
19-9006391-G-A c.39627C>T p.S13209= Synonymous 45/84 - 2
19-9006391-G-C c.39627C>G p.S13209R Missense 45/84 - 3
19-9006391-GC-AT c.39626_39627delinsAT p.S13209N Missense 45/84 - 1
19-9006391-G-T c.39627C>A p.S13209R Missense 45/84 - 2
19-9006393-T-G c.39625A>C p.S13209R Missense 45/84 - 2
19-9006392-C-T c.39626G>A p.S13209N Missense 45/84 - 11
19-9006404-GG-AA c.39613_39614delinsTT p.P13205F Missense 45/84 - 1
19-9006404-G-A c.39614C>T p.P13205L Missense 45/84 - 2
19-9006405-G-A c.39613C>T p.P13205S Missense 45/84 - 11
19-9006407-T-C c.39611A>G p.K13204R Missense 45/84 - 2
19-9006407-T-G c.39611A>C p.K13204T Missense 45/84 - 4
19-9006409-G-C c.39609C>G p.L13203= Synonymous 45/84 - 1
19-9006411-G-A c.39607C>T p.L13203F Missense 45/84 - 5
19-9006415-T-C c.39607-4A>G - IntronicSNV - 44/83 8
19-9006416-T-A c.39607-5A>T - IntronicSNV - 44/83 10
19-9006416-T-G c.39607-5A>C - IntronicSNV - 44/83 10
19-9006418-G-A c.39607-7C>T - IntronicSNV - 44/83 7
19-9006422-G-A c.39607-11C>T - IntronicSNV - 44/83 2
19-9006425-A-G c.39607-14T>C - IntronicSNV - 44/83 1
19-9006441-C-G c.39607-30G>C - IntronicSNV - 44/83 1
19-9006456-A-G c.39607-45T>C - IntronicSNV - 44/83 1
19-9006461-C-G c.39607-50G>C - IntronicSNV - 44/83 1
19-9006461-C-T c.39607-50G>A - IntronicSNV - 44/83 1
19-9006463-C-G c.39607-52G>C - IntronicSNV - 44/83 6
19-9006463-C-T c.39607-52G>A - IntronicSNV - 44/83 6
19-9006463-C-CGG c.39607-54_39607-53dup - IntronicInsertion - 44/83 2
19-9006478-G-A c.39607-67C>T - IntronicSNV - 44/83 1
19-9006481-T-A c.39607-70A>T - IntronicSNV - 44/83 1
19-9006481-T-G c.39607-70A>C - IntronicSNV - 44/83 1
19-9006485-G-T c.39607-74C>A - IntronicSNV - 44/83 1
19-9006529-CTTT-C c.39606+110_39606+112del - IntronicDeletion - 44/83 1
19-9006529-CTT-C c.39606+111_39606+112del - IntronicDeletion - 44/83 1
19-9006532-T-G c.39606+110A>C - IntronicSNV - 44/83 1
19-9006540-T-G c.39606+102A>C - IntronicSNV - 44/83 2
19-9006542-GGGT-G c.39606+97_39606+99del - IntronicDeletion - 44/83 1
19-9006550-G-A c.39606+92C>T - IntronicSNV - 44/83 1
19-9006552-A-T c.39606+90T>A - IntronicSNV - 44/83 1
19-9006576-A-C c.39606+66T>G - IntronicSNV - 44/83 1
19-9006580-A-G c.39606+62T>C - IntronicSNV - 44/83 1
19-9006582-G-A c.39606+60C>T - IntronicSNV - 44/83 1
19-9006586-C-T c.39606+56G>A - IntronicSNV - 44/83 1
19-9006590-G-A c.39606+52C>T - IntronicSNV - 44/83 1
19-9006592-T-C c.39606+50A>G - IntronicSNV - 44/83 1
19-9006599-TA-T c.39606+43del - IntronicDeletion - 44/83 1
19-9006624-G-A c.39606+18C>T - IntronicSNV - 44/83 1
19-9006631-G-A c.39606+11C>T - IntronicSNV - 44/83 1
19-9006633-G-A c.39606+9C>T - IntronicSNV - 44/83 1
19-9006638-T-C c.39606+4A>G - IntronicSNV - 44/83 1
19-9006639-T-C c.39606+3A>G - IntronicSNV - 44/83 1
19-9006646-C-T c.39602G>A p.G13201D Missense 44/84 - 2
19-9006647-C-T c.39601G>A p.G13201S Missense 44/84 - 1
19-9006648-C-A c.39600G>T p.Q13200H Missense 44/84 - 1
19-9006654-A-G c.39594T>C p.V13198= Synonymous 44/84 - 1
19-9006655-A-C c.39593T>G p.V13198G Missense 44/84 - 1
19-9006657-A-C c.39591T>G p.S13197R Missense 44/84 - 14
19-9006657-A-T c.39591T>A p.S13197R Missense 44/84 - 12
19-9006659-T-G c.39589A>C p.S13197R Missense 44/84 - 3
19-9006658-C-A c.39590G>T p.S13197I Missense 44/84 - 1
19-9006659-T-A c.39589A>T p.S13197C Missense 44/84 - 4
19-9006660-C-T c.39588G>A p.E13196= Synonymous 44/84 - 3
19-9006662-C-T c.39586G>A p.E13196K Missense 44/84 - 5
19-9006663-C-T c.39585G>A p.T13195= Synonymous 44/84 - 1
19-9006663-C-A c.39585G>T p.T13195= Synonymous 44/84 - 1
19-9006664-G-A c.39584C>T p.T13195M Missense 44/84 - 5
19-9006666-G-A c.39582C>T p.I13194= Synonymous 44/84 - 2
19-9006667-A-G c.39581T>C p.I13194T Missense 44/84 - 13
19-9006667-A-T c.39581T>A p.I13194N Missense 44/84 - 1
19-9006669-G-T c.39579C>A p.N13193K Missense 44/84 - 1
19-9006672-G-C c.39576C>G p.F13192L Missense 44/84 - 4
19-9006674-A-G c.39574T>C p.F13192L Missense 44/84 - 2
19-9006672-G-T c.39576C>A p.F13192L Missense 44/84 - 2
19-9006678-C-T c.39570G>A p.R13190= Synonymous 44/84 - 5
19-9006679-C-T c.39569G>A p.R13190K Missense 44/84 - 1
19-9006682-G-A c.39566C>T p.S13189F Missense 44/84 - 1
19-9006684-G-A c.39564C>T p.G13188= Synonymous 44/84 - 3
19-9006684-G-C c.39564C>G p.G13188= Synonymous 44/84 - 1
19-9006684-G-T c.39564C>A p.G13188= Synonymous 44/84 - 1
19-9006685-C-T c.39563G>A p.G13188D Missense 44/84 - 4
19-9006689-G-A c.39559C>T p.P13187S Missense 44/84 - 4
19-9006692-G-A c.39556C>T p.H13186Y Missense 44/84 - 4
19-9006692-G-T c.39556C>A p.H13186N Missense 44/84 - 1
19-9006693-ACC-TTG c.39553_39555delinsCAA p.G13185Q Missense 44/84 - 1
19-9006694-C-T c.39554G>A p.G13185D Missense 44/84 - 1
19-9006695-C-G c.39553G>C p.G13185R Missense 44/84 - 2
19-9006696-C-G c.39552G>C p.M13184I Missense 44/84 - 2
19-9006696-C-T c.39552G>A p.M13184I Missense 44/84 - 1
19-9006696-C-A c.39552G>T p.M13184I Missense 44/84 - 1
19-9006702-C-T c.39546G>A p.E13182= Synonymous 44/84 - 5
19-9006703-T-A c.39545A>T p.E13182V Missense 44/84 - 1
19-9006705-C-T c.39543G>A p.E13181= Synonymous 44/84 - 2
19-9006705-C-G c.39543G>C p.E13181D Missense 44/84 - 3
19-9006705-C-A c.39543G>T p.E13181D Missense 44/84 - 3
19-9006711-C-A c.39537G>T p.Q13179H Missense 44/84 - 2
19-9006711-C-G c.39537G>C p.Q13179H Missense 44/84 - 1
19-9006711-C-T c.39537G>A p.Q13179= Synonymous 44/84 - 1
19-9006712-T-C c.39536A>G p.Q13179R Missense 44/84 - 1
19-9006714-T-C c.39534A>G p.L13178= Synonymous 44/84 - 3
19-9006714-T-A c.39534A>T p.L13178= Synonymous 44/84 - 2
19-9006714-T-G c.39534A>C p.L13178= Synonymous 44/84 - 2
19-9006716-G-A c.39532C>T p.L13178= Synonymous 44/84 - 2
19-9006716-G-C c.39532C>G p.L13178V Missense 44/84 - 1
19-9006717-G-A c.39531C>T p.N13177= Synonymous 44/84 - 1
19-9006720-A-G c.39528T>C p.T13176= Synonymous 44/84 - 2
19-9006720-A-T c.39528T>A p.T13176= Synonymous 44/84 - 1
19-9006720-A-C c.39528T>G p.T13176= Synonymous 44/84 - 1
19-9006725-TG-T c.39522del p.I13175Sfs*47 Frameshift 44/84 - 1
19-9006729-G-A c.39519C>T p.F13173= Synonymous 44/84 - 3
19-9006731-A-C c.39517T>G p.F13173V Missense 44/84 - 2
19-9006737-G-A c.39511C>T p.L13171F Missense 44/84 - 1
19-9006738-T-G c.39510A>C p.T13170= Synonymous 44/84 - 2
19-9006738-T-C c.39510A>G p.T13170= Synonymous 44/84 - 1
19-9006738-T-A c.39510A>T p.T13170= Synonymous 44/84 - 1
19-9006740-T-C c.39508A>G p.T13170A Missense 44/84 - 1
19-9006742-A-T c.39506T>A p.F13169Y Missense 44/84 - 1
19-9006747-C-T c.39501G>A p.V13167= Synonymous 44/84 - 4
19-9006747-C-G c.39501G>C p.V13167= Synonymous 44/84 - 3
19-9006747-C-A c.39501G>T p.V13167= Synonymous 44/84 - 3
19-9006749-C-T c.39499G>A p.V13167M Missense 44/84 - 23
19-9006750-C-T c.39498G>A p.L13166= Synonymous 44/84 - 2
19-9006750-C-A c.39498G>T p.L13166= Synonymous 44/84 - 1
19-9006750-C-G c.39498G>C p.L13166= Synonymous 44/84 - 1
19-9006752-G-A c.39496C>T p.L13166= Synonymous 44/84 - 3
19-9006753-G-A c.39495C>T p.L13165= Synonymous 44/84 - 4
19-9006758-G-T c.39490C>A p.P13164T Missense 44/84 - 1
19-9006760-C-A c.39488G>T p.G13163V Missense 44/84 - 3
19-9006762-CGG-C c.39485_39486del p.T13162Rfs*15 Frameshift 44/84 - 2
19-9006762-G-A c.39486C>T p.T13162= Synonymous 44/84 - 3
19-9006762-G-T c.39486C>A p.T13162= Synonymous 44/84 - 2
19-9006762-G-C c.39486C>G p.T13162= Synonymous 44/84 - 1
19-9006763-G-C c.39485C>G p.T13162S Missense 44/84 - 3
19-9006764-T-A c.39484A>T p.T13162S Missense 44/84 - 3
19-9006764-T-G c.39484A>C p.T13162P Missense 44/84 - 4
19-9006766-G-A c.39482C>T p.T13161I Missense 44/84 - 2
19-9006797-T-C c.39482-31A>G - IntronicSNV - 43/83 2
19-9006805-T-C c.39482-39A>G - IntronicSNV - 43/83 1
19-9006819-G-A c.39482-53C>T - IntronicSNV - 43/83 1
19-9006819-G-C c.39482-53C>G - IntronicSNV - 43/83 1
19-9006819-G-T c.39482-53C>A - IntronicSNV - 43/83 1
19-9006840-C-T c.39482-74G>A - IntronicSNV - 43/83 1
19-9006842-A-G c.39482-76T>C - IntronicSNV - 43/83 1
19-9006852-A-C c.39482-86T>G - IntronicSNV - 43/83 1
19-9007186-T-C c.39481+301A>G - IntronicSNV - 43/83 1
19-9007237-T-C c.39481+250A>G - IntronicSNV - 43/83 1
19-9007240-T-C c.39481+247A>G - IntronicSNV - 43/83 1
19-9007357-G-A c.39481+130C>T - IntronicSNV - 43/83 2
19-9007487-T-C c.39481A>G p.T13161A Missense 43/84 - 4
19-9007489-G-T c.39479C>A p.T13160K Missense 43/84 - 1
19-9007492-G-T c.39476C>A p.P13159H Missense 43/84 - 5
19-9007493-G-A c.39475C>T p.P13159S Missense 43/84 - 4
19-9007497-G-T c.39471C>A p.P13157= Synonymous 43/84 - 1
19-9007498-G-A c.39470C>T p.P13157L Missense 43/84 - 1
19-9007498-G-T c.39470C>A p.P13157H Missense 43/84 - 1
19-9007502-C-T c.39466G>A p.V13156I Missense 43/84 - 3
19-9007502-C-G c.39466G>C p.V13156L Missense 43/84 - 2
19-9007503-G-C c.39465C>G p.P13155= Synonymous 43/84 - 2
19-9007503-G-A c.39465C>T p.P13155= Synonymous 43/84 - 2
19-9007503-G-T c.39465C>A p.P13155= Synonymous 43/84 - 1
19-9007506-G-A c.39462C>T p.S13154= Synonymous 43/84 - 4
19-9007506-G-C c.39462C>G p.S13154= Synonymous 43/84 - 3
19-9007506-G-T c.39462C>A p.S13154= Synonymous 43/84 - 3
19-9007507-G-A c.39461C>T p.S13154F Missense 43/84 - 3
19-9007511-G-T c.39457C>A p.P13153T Missense 43/84 - 1
19-9007516-C-T c.39452G>A p.G13151E Missense 43/84 - 2
19-9007522-G-T c.39446C>A p.T13149N Missense 43/84 - 2
19-9007523-T-A c.39445A>T p.T13149S Missense 43/84 - 2
19-9007524-T-A c.39444A>T p.G13148= Synonymous 43/84 - 1
19-9007524-T-C c.39444A>G p.G13148= Synonymous 43/84 - 1
19-9007524-T-G c.39444A>C p.G13148= Synonymous 43/84 - 1
19-9007525-C-T c.39443G>A p.G13148E Missense 43/84 - 2
19-9007529-G-T c.39439C>A p.L13147I Missense 43/84 - 1
19-9007532-C-A c.39436G>T p.D13146Y Missense 43/84 - 1
19-9007535-C-G c.39433G>C p.V13145L Missense 43/84 - 5
19-9007545-C-T c.39423G>A p.W13141* Nonsense 43/84 - 4
19-9007546-C-T c.39422G>A p.W13141* Nonsense 43/84 - 3
19-9007613-G-A c.39416-61C>T - IntronicSNV - 42/83 1
19-9007630-G-A c.39416-78C>T - IntronicSNV - 42/83 8
19-9007748-A-G c.39415+61T>C - IntronicSNV - 42/83 8
19-9007794-G-C c.39415+15C>G - IntronicSNV - 42/83 1
19-9007807-A-G c.39415+2T>C - IntronicSNV - 42/83 1
19-9007808-C-T c.39415+1G>A - IntronicSNV - 42/83 2
19-9007810-G-A c.39414C>T p.S13138= Synonymous 42/84 - 1
19-9007811-C-A c.39413G>T p.S13138I Missense 42/84 - 1
19-9007817-G-A c.39407C>T p.T13136I Missense 42/84 - 1
19-9007819-G-A c.39405C>T p.L13135= Synonymous 42/84 - 1
19-9007823-C-A c.39401G>T p.G13134V Missense 42/84 - 2
19-9007829-C-T c.39395G>A p.S13132N Missense 42/84 - 1
19-9007832-C-T c.39392G>A p.R13131Q Missense 42/84 - 4
19-9007832-C-A c.39392G>T p.R13131L Missense 42/84 - 1
19-9007833-G-A c.39391C>T p.R13131W Missense 42/84 - 4
19-9007833-G-T c.39391C>A p.R13131= Synonymous 42/84 - 3
19-9007831-C-T c.39393G>A p.R13131= Synonymous 42/84 - 4
19-9007831-C-G c.39393G>C p.R13131= Synonymous 42/84 - 3
19-9007831-C-A c.39393G>T p.R13131= Synonymous 42/84 - 3
19-9007836-G-T c.39388C>A p.H13130N Missense 42/84 - 4
19-9007838-G-A c.39386C>T p.T13129I Missense 42/84 - 4
19-9007840-G-A c.39384C>T p.F13128= Synonymous 42/84 - 3
19-9007843-A-C c.39381T>G p.G13127= Synonymous 42/84 - 4
19-9007843-A-T c.39381T>A p.G13127= Synonymous 42/84 - 3
19-9007843-A-G c.39381T>C p.G13127= Synonymous 42/84 - 3
19-9007873-G-A c.39380-29C>T - IntronicSNV - 41/83 1
19-9008172-C-A c.39379+1G>T - IntronicSNV - 41/83 1
19-9008179-C-T c.39373G>A p.V13125I Missense 41/84 - 1
19-9008180-G-A c.39372C>T p.Y13124= Synonymous 41/84 - 6
19-9008180-G-T c.39372C>A p.Y13124* Nonsense 41/84 - 1
19-9008185-G-A c.39367C>T p.L13123F Missense 41/84 - 4
19-9008186-A-G c.39366T>C p.S13122= Synonymous 41/84 - 3
19-9008188-T-A c.39364A>T p.S13122C Missense 41/84 - 1
19-9008192-C-T c.39360G>A p.R13120= Synonymous 41/84 - 1
19-9008193-C-T c.39359G>A p.R13120Q Missense 41/84 - 13
19-9008193-C-A c.39359G>T p.R13120L Missense 41/84 - 1
19-9008194-G-A c.39358C>T p.R13120W Missense 41/84 - 5
19-9008200-G-A c.39352C>T p.L13118= Synonymous 41/84 - 2
19-9008202-G-A c.39350C>T p.T13117I Missense 41/84 - 4
19-9008203-T-G c.39349A>C p.T13117P Missense 41/84 - 1
19-9008203-T-C c.39349A>G p.T13117A Missense 41/84 - 1
19-9008204-G-A c.39348C>T p.Y13116= Synonymous 41/84 - 1
19-9008207-G-A c.39345C>T p.P13115= Synonymous 41/84 - 1
19-9008207-G-C c.39345C>G p.P13115= Synonymous 41/84 - 1
19-9008207-G-T c.39345C>A p.P13115= Synonymous 41/84 - 1
19-9008208-G-A c.39344C>T p.P13115L Missense 41/84 - 6
19-9008209-G-A c.39343C>T p.P13115S Missense 41/84 - 1
19-9008211-C-T c.39341G>A p.G13114D Missense 41/84 - 7
19-9008211-C-G c.39341G>C p.G13114A Missense 41/84 - 1
19-9008212-C-A c.39340G>T p.G13114C Missense 41/84 - 2
19-9008218-C-T c.39334G>A p.E13112K Missense 41/84 - 3
19-9008225-G-A c.39327C>T p.G13109= Synonymous 41/84 - 2
19-9008228-A-C c.39324T>G p.N13108K Missense 41/84 - 1
19-9008228-A-T c.39324T>A p.N13108K Missense 41/84 - 1
19-9008234-C-T c.39318G>A p.M13106I Missense 41/84 - 2
19-9008234-C-G c.39318G>C p.M13106I Missense 41/84 - 1
19-9008234-C-A c.39318G>T p.M13106I Missense 41/84 - 1
19-9008235-A-T c.39317T>A p.M13106K Missense 41/84 - 1
19-9008236-T-G c.39316A>C p.M13106L Missense 41/84 - 1
19-9008237-C-A c.39315G>T p.Q13105H Missense 41/84 - 1
19-9008237-C-T c.39315G>A p.Q13105= Synonymous 41/84 - 1
19-9008245-G-A c.39307C>T p.L13103= Synonymous 41/84 - 2
19-9008248-G-C c.39304C>G p.Q13102E Missense 41/84 - 4
19-9008248-G-T c.39304C>A p.Q13102K Missense 41/84 - 5
19-9008256-A-T c.39296T>A p.L13099Q Missense 41/84 - 1
19-9008260-G-T c.39292C>A p.Q13098K Missense 41/84 - 1
19-9008263-C-T c.39289G>A p.E13097K Missense 41/84 - 1
19-9008264-C-T c.39288G>A p.R13096= Synonymous 41/84 - 4
19-9008266-T-G c.39286A>C p.R13096= Synonymous 41/84 - 2
19-9008265-C-A c.39287G>T p.R13096M Missense 41/84 - 5
19-9008268-T-C c.39284A>G p.D13095G Missense 41/84 - 1
19-9008269-C-T c.39283G>A p.D13095N Missense 41/84 - 5
19-9008270-C-A c.39282G>T p.L13094= Synonymous 41/84 - 1
19-9008270-C-T c.39282G>A p.L13094= Synonymous 41/84 - 1
19-9008270-C-G c.39282G>C p.L13094= Synonymous 41/84 - 1
19-9008272-G-A c.39280C>T p.L13094= Synonymous 41/84 - 2
19-9008273-T-C c.39279A>G p.G13093= Synonymous 41/84 - 2
19-9008277-G-A c.39275C>T p.P13092L Missense 41/84 - 1
19-9008279-G-C c.39273C>G p.S13091R Missense 41/84 - 3
19-9008279-G-T c.39273C>A p.S13091R Missense 41/84 - 5
19-9008281-T-G c.39271A>C p.S13091R Missense 41/84 - 3
19-9008284-G-T c.39268C>A p.Q13090K Missense 41/84 - 3
19-9008284-G-C c.39268C>G p.Q13090E Missense 41/84 - 1
19-9008287-G-A c.39265C>T p.P13089S Missense 41/84 - 1
19-9008288-G-A c.39264C>T p.N13088= Synonymous 41/84 - 2
19-9008290-T-C c.39262A>G p.N13088D Missense 41/84 - 12
19-9008292-A-G c.39260T>C p.L13087P Missense 41/84 - 14
19-9008293-G-T c.39259C>A p.L13087I Missense 41/84 - 1
19-9008296-G-C c.39256C>G p.H13086D Missense 41/84 - 1
19-9008296-G-A c.39256C>T p.H13086Y Missense 41/84 - 1
19-9008297-G-A c.39255C>T p.H13085= Synonymous 41/84 - 1
19-9008298-T-C c.39254A>G p.H13085R Missense 41/84 - 1
19-9008299-G-A c.39253C>T p.H13085Y Missense 41/84 - 7
19-9008301-G-A c.39251C>T p.T13084I Missense 41/84 - 4
19-9008302-T-G c.39250A>C p.T13084P Missense 41/84 - 4
19-9008303-G-A c.39249C>T p.C13083= Synonymous 41/84 - 3
19-9008306-G-C c.39246C>G p.I13082M Missense 41/84 - 1
19-9008308-T-C c.39244A>G p.I13082V Missense 41/84 - 5
19-9008310-G-T c.39242C>A p.A13081D Missense 41/84 - 1
19-9008310-G-C c.39242C>G p.A13081G Missense 41/84 - 1
19-9008317-C-T c.39235G>A p.V13079M Missense 41/84 - 9
19-9008319-C-A c.39233G>T p.G13078V Missense 41/84 - 1
19-9008320-C-T c.39232G>A p.G13078R Missense 41/84 - 8
19-9008320-C-G c.39232G>C p.G13078R Missense 41/84 - 6
19-9008320-C-A c.39232G>T p.G13078* Nonsense 41/84 - 1
19-9008321-A-T c.39231T>A p.T13077= Synonymous 41/84 - 1
19-9008321-A-C c.39231T>G p.T13077= Synonymous 41/84 - 1
19-9008321-A-G c.39231T>C p.T13077= Synonymous 41/84 - 1
19-9008324-G-T c.39228C>A p.A13076= Synonymous 41/84 - 5
19-9008324-G-A c.39228C>T p.A13076= Synonymous 41/84 - 3
19-9008324-G-C c.39228C>G p.A13076= Synonymous 41/84 - 1
19-9008326-C-G c.39226G>C p.A13076P Missense 41/84 - 1
19-9008331-CC-TT c.39220_39221delinsAA p.G13074K Missense 41/84 - 1
19-9008331-C-T c.39221G>A p.G13074E Missense 41/84 - 1
19-9008332-C-T c.39220G>A p.G13074R Missense 41/84 - 1
19-9008333-A-C c.39219T>G p.D13073E Missense 41/84 - 1
19-9008333-A-T c.39219T>A p.D13073E Missense 41/84 - 1
19-9008335-C-G c.39217G>C p.D13073H Missense 41/84 - 1
19-9008336-C-T c.39216G>A p.K13072= Synonymous 41/84 - 3
19-9008342-A-G c.39210T>C p.S13070= Synonymous 41/84 - 3
19-9008342-A-T c.39210T>A p.S13070= Synonymous 41/84 - 3
19-9008342-A-C c.39210T>G p.S13070= Synonymous 41/84 - 2
19-9008344-A-G c.39208T>C p.S13070P Missense 41/84 - 10
19-9008345-C-T c.39207G>A p.R13069= Synonymous 41/84 - 5
19-9008361-G-T c.39207-16C>A - IntronicSNV - 40/83 1
19-9008365-A-G c.39207-20T>C - IntronicSNV - 40/83 1
19-9008393-T-C c.39207-48A>G - IntronicSNV - 40/83 1
19-9008394-G-A c.39207-49C>T - IntronicSNV - 40/83 1
19-9008412-G-T c.39207-67C>A - IntronicSNV - 40/83 1
19-9009161-A-T c.39206+106T>A - IntronicSNV - 40/83 2
19-9009163-C-T c.39206+104G>A - IntronicSNV - 40/83 1
19-9009228-G-T c.39206+39C>A - IntronicSNV - 40/83 1
19-9009239-A-G c.39206+28T>C - IntronicSNV - 40/83 2
19-9009244-T-C c.39206+23A>G - IntronicSNV - 40/83 3
19-9009244-T-A c.39206+23A>T - IntronicSNV - 40/83 2
19-9009254-A-C c.39206+13T>G - IntronicSNV - 40/83 2
19-9009254-A-G c.39206+13T>C - IntronicSNV - 40/83 2
19-9009265-A-G c.39206+2T>C - IntronicSNV - 40/83 1
19-9009273-G-A c.39200C>T p.S13067F Missense 40/84 - 2
19-9009276-A-G c.39197T>C p.I13066T Missense 40/84 - 11
19-9009276-A-C c.39197T>G p.I13066S Missense 40/84 - 1
19-9009276-A-T c.39197T>A p.I13066N Missense 40/84 - 1
19-9009280-G-A c.39193C>T p.L13065= Synonymous 40/84 - 1
19-9009282-C-G c.39191G>C p.R13064T Missense 40/84 - 2
19-9009287-GC-CT c.39185_39186delinsAG p.G13062E Missense 40/84 - 1
19-9009291-G-A c.39182C>T p.S13061F Missense 40/84 - 2
19-9009298-G-A c.39175C>T p.L13059= Synonymous 40/84 - 1
19-9009303-C-T c.39170G>A p.G13057D Missense 40/84 - 1
19-9009304-C-G c.39169G>C p.G13057R Missense 40/84 - 1
19-9009304-C-T c.39169G>A p.G13057S Missense 40/84 - 2
19-9009305-G-A c.39168C>T p.V13056= Synonymous 40/84 - 7
19-9009305-G-T c.39168C>A p.V13056= Synonymous 40/84 - 2
19-9009305-G-C c.39168C>G p.V13056= Synonymous 40/84 - 2
19-9009307-C-T c.39166G>A p.V13056I Missense 40/84 - 2
19-9009310-T-C c.39163A>G p.S13055G Missense 40/84 - 1
19-9009312-G-A c.39161C>T p.S13054F Missense 40/84 - 5
19-9009312-GA-AT c.39160_39161delinsAT p.S13054I Missense 40/84 - 1
19-9009313-A-T c.39160T>A p.S13054T Missense 40/84 - 4
19-9009313-A-G c.39160T>C p.S13054P Missense 40/84 - 1
19-9009317-C-G c.39156G>C p.K13052N Missense 40/84 - 3
19-9009317-C-A c.39156G>T p.K13052N Missense 40/84 - 3
19-9009321-A-G c.39152T>C p.F13051S Missense 40/84 - 2
19-9009322-A-G c.39151T>C p.F13051L Missense 40/84 - 1
19-9009320-G-T c.39153C>A p.F13051L Missense 40/84 - 1
19-9009320-G-C c.39153C>G p.F13051L Missense 40/84 - 1
19-9009323-C-A c.39150G>T p.L13050F Missense 40/84 - 11
19-9009323-C-T c.39150G>A p.L13050= Synonymous 40/84 - 4
19-9009323-C-G c.39150G>C p.L13050F Missense 40/84 - 2
19-9009325-A-T c.39148T>A p.L13050M Missense 40/84 - 13
19-9009325-A-G c.39148T>C p.L13050= Synonymous 40/84 - 1
19-9009328-G-A c.39145C>T p.P13049S Missense 40/84 - 4
19-9009328-G-T c.39145C>A p.P13049T Missense 40/84 - 1
19-9009331-C-T c.39142G>A p.G13048S Missense 40/84 - 14
19-9009333-A-G c.39140T>C p.L13047P Missense 40/84 - 5
19-9009334-G-T c.39139C>A p.L13047I Missense 40/84 - 1
19-9009334-AG-A c.39139del p.G13048Vfs*18 Frameshift 40/84 - 1
19-9009341-A-C c.39139-7T>G - IntronicSNV - 39/83 5
19-9009341-A-G c.39139-7T>C - IntronicSNV - 39/83 5
19-9009342-A-G c.39139-8T>C - IntronicSNV - 39/83 2
19-9009427-A-G c.39139-93T>C - IntronicSNV - 39/83 1
19-9009467-T-G c.39138+121A>C - IntronicSNV - 39/83 2
19-9009483-GGCA-G c.39138+103_39138+105del - IntronicDeletion - 39/83 1
19-9009489-A-G c.39138+99T>C - IntronicSNV - 39/83 1
19-9009491-G-A c.39138+97C>T - IntronicSNV - 39/83 1
19-9009493-A-G c.39138+95T>C - IntronicSNV - 39/83 1
19-9009496-G-T c.39138+92C>A - IntronicSNV - 39/83 1
19-9009500-A-G c.39138+88T>C - IntronicSNV - 39/83 1
19-9009502-CAT-C c.39138+85_39138+86del - IntronicDeletion - 39/83 1
19-9009505-C-A c.39138+83G>T - IntronicSNV - 39/83 1
19-9009510-C-T c.39138+78G>A - IntronicSNV - 39/83 1
19-9009512-C-T c.39138+76G>A - IntronicSNV - 39/83 1
19-9009516-A-G c.39138+72T>C - IntronicSNV - 39/83 1
19-9009524-T-A c.39138+64A>T - IntronicSNV - 39/83 1
19-9009527-G-A c.39138+61C>T - IntronicSNV - 39/83 1
19-9009562-C-CGGGGG c.39138+25_39138+26insCCCCC - IntronicInsertion - 39/83 1
19-9009570-G-A c.39138+18C>T - IntronicSNV - 39/83 4
19-9009581-C-T c.39138+7G>A - IntronicSNV - 39/83 9
19-9009582-A-G c.39138+6T>C - IntronicSNV - 39/83 5
19-9009580-GCA-G c.39138+6_39138+7del - IntronicDeletion - 39/83 1
19-9009592-C-T c.39134G>A p.G13045D Missense 39/84 - 1
19-9009593-C-A c.39133G>T p.G13045C Missense 39/84 - 4
19-9009593-C-G c.39133G>C p.G13045R Missense 39/84 - 2
19-9009594-C-A c.39132G>T p.Q13044H Missense 39/84 - 4
19-9009594-C-T c.39132G>A p.Q13044= Synonymous 39/84 - 2
19-9009594-C-G c.39132G>C p.Q13044H Missense 39/84 - 3
19-9009597-C-A c.39129G>T p.L13043= Synonymous 39/84 - 2
19-9009597-C-T c.39129G>A p.L13043= Synonymous 39/84 - 1
19-9009597-C-G c.39129G>C p.L13043= Synonymous 39/84 - 1
19-9009599-G-A c.39127C>T p.L13043= Synonymous 39/84 - 1
19-9009598-A-G c.39128T>C p.L13043P Missense 39/84 - 2
19-9009600-G-T c.39126C>A p.V13042= Synonymous 39/84 - 4
19-9009600-G-A c.39126C>T p.V13042= Synonymous 39/84 - 6
19-9009600-G-C c.39126C>G p.V13042= Synonymous 39/84 - 2
19-9009602-C-T c.39124G>A p.V13042I Missense 39/84 - 1
19-9009603-C-T c.39123G>A p.R13041= Synonymous 39/84 - 2
19-9009605-T-C c.39121A>G p.R13041G Missense 39/84 - 1
19-9009606-C-G c.39120G>C p.E13040D Missense 39/84 - 2
19-9009606-C-A c.39120G>T p.E13040D Missense 39/84 - 2
19-9009608-C-G c.39118G>C p.E13040Q Missense 39/84 - 1
19-9009609-T-C c.39117A>G p.T13039= Synonymous 39/84 - 3
19-9009614-T-G c.39112A>C p.T13038P Missense 39/84 - 2
19-9009614-T-C c.39112A>G p.T13038A Missense 39/84 - 7
19-9009615-G-A c.39111C>T p.N13037= Synonymous 39/84 - 1
19-9009624-C-T c.39102G>A p.R13034= Synonymous 39/84 - 2
19-9009625-C-A c.39101G>T p.R13034M Missense 39/84 - 1
19-9009627-G-A c.39099C>T p.S13033= Synonymous 39/84 - 7
19-9009627-G-C c.39099C>G p.S13033= Synonymous 39/84 - 4
19-9009627-G-T c.39099C>A p.S13033= Synonymous 39/84 - 4
19-9009630-G-T c.39096C>A p.G13032= Synonymous 39/84 - 8
19-9009630-G-A c.39096C>T p.G13032= Synonymous 39/84 - 7
19-9009630-G-C c.39096C>G p.G13032= Synonymous 39/84 - 5
19-9009631-C-T c.39095G>A p.G13032D Missense 39/84 - 1
19-9009631-C-A c.39095G>T p.G13032V Missense 39/84 - 2
19-9009637-T-C c.39089A>G p.H13030R Missense 39/84 - 12
19-9009640-C-T c.39086G>A p.R13029H Missense 39/84 - 17
19-9009641-G-A c.39085C>T p.R13029C Missense 39/84 - 1
19-9009642-C-A c.39084G>T p.M13028I Missense 39/84 - 2
19-9009642-C-G c.39084G>C p.M13028I Missense 39/84 - 1
19-9009642-C-T c.39084G>A p.M13028I Missense 39/84 - 1
19-9009645-G-C c.39081C>G p.D13027E Missense 39/84 - 1
19-9009645-G-T c.39081C>A p.D13027E Missense 39/84 - 1
19-9009648-C-G c.39078G>C p.E13026D Missense 39/84 - 2
19-9009648-C-A c.39078G>T p.E13026D Missense 39/84 - 2
19-9009648-C-T c.39078G>A p.E13026= Synonymous 39/84 - 2
19-9009650-C-T c.39076G>A p.E13026K Missense 39/84 - 2
19-9009651-C-T c.39075G>A p.G13025= Synonymous 39/84 - 5
19-9009652-C-T c.39074G>A p.G13025E Missense 39/84 - 15
19-9009652-C-A c.39074G>T p.G13025V Missense 39/84 - 3
19-9009652-CC-AT c.39073_39074delinsAT p.G13025M Missense 39/84 - 2
19-9009653-C-T c.39073G>A p.G13025R Missense 39/84 - 2
19-9009653-C-G c.39073G>C p.G13025R Missense 39/84 - 1
19-9009654-A-T c.39072T>A p.Y13024* Nonsense 39/84 - 1
19-9009654-A-C c.39072T>G p.Y13024* Nonsense 39/84 - 1
19-9009659-G-A c.39067C>T p.Q13023* Nonsense 39/84 - 2
19-9009660-C-A c.39066G>T p.L13022= Synonymous 39/84 - 1
19-9009660-C-T c.39066G>A p.L13022= Synonymous 39/84 - 1
19-9009660-C-G c.39066G>C p.L13022= Synonymous 39/84 - 1
19-9009662-G-A c.39064C>T p.L13022= Synonymous 39/84 - 2
19-9009663-A-G c.39063T>C p.N13021= Synonymous 39/84 - 7
19-9009665-T-C c.39061A>G p.N13021D Missense 39/84 - 1
19-9009667-G-A c.39059C>T p.T13020I Missense 39/84 - 2
19-9009673-G-T c.39053C>A p.T13018N Missense 39/84 - 2
19-9009675-A-G c.39051T>C p.F13017= Synonymous 39/84 - 8
19-9009681-G-A c.39045C>T p.L13015= Synonymous 39/84 - 4
19-9009681-G-T c.39045C>A p.L13015= Synonymous 39/84 - 5
19-9009681-G-C c.39045C>G p.L13015= Synonymous 39/84 - 3
19-9009685-G-A c.39041C>T p.T13014I Missense 39/84 - 4
19-9009690-C-T c.39036G>A p.P13012= Synonymous 39/84 - 8
19-9009690-C-A c.39036G>T p.P13012= Synonymous 39/84 - 3
19-9009690-C-G c.39036G>C p.P13012= Synonymous 39/84 - 3
19-9009703-G-T c.39023C>A p.P13008H Missense 39/84 - 3
19-9009703-G-A c.39023C>T p.P13008L Missense 39/84 - 2
19-9009704-G-A c.39022C>T p.P13008S Missense 39/84 - 5
19-9009705-A-C c.39021T>G p.V13007= Synonymous 39/84 - 6
19-9009705-A-G c.39021T>C p.V13007= Synonymous 39/84 - 6
19-9009705-AA-GC c.39020_39021delinsGC p.V13007G Missense 39/84 - 1
19-9009706-A-C c.39020T>G p.V13007G Missense 39/84 - 14
19-9009706-A-T c.39020T>A p.V13007D Missense 39/84 - 1
19-9009707-C-T c.39019G>A p.V13007I Missense 39/84 - 1
19-9009709-AG-A c.39017del p.A13006Vfs*60 Frameshift 39/84 - 1
19-9009711-T-A c.39015A>T p.T13005= Synonymous 39/84 - 9
19-9009711-T-G c.39015A>C p.T13005= Synonymous 39/84 - 8
19-9009711-T-C c.39015A>G p.T13005= Synonymous 39/84 - 2
19-9009713-C-T c.39014-1G>A - IntronicSNV - 38/83 1
19-9009716-T-C c.39014-4A>G - IntronicSNV - 38/83 1
19-9009750-G-T c.39014-38C>A - IntronicSNV - 38/83 2
19-9009751-A-G c.39014-39T>C - IntronicSNV - 38/83 2
19-9009761-G-A c.39014-49C>T - IntronicSNV - 38/83 4
19-9009772-T-C c.39014-60A>G - IntronicSNV - 38/83 2
19-9009774-T-G c.39014-62A>C - IntronicSNV - 38/83 2
19-9009776-G-C c.39014-64C>G - IntronicSNV - 38/83 2
19-9009808-C-A c.39014-96G>T - IntronicSNV - 38/83 2
19-9009813-A-T c.39014-101T>A - IntronicSNV - 38/83 1
19-9009829-A-G c.39014-117T>C - IntronicSNV - 38/83 1
19-9009829-A-T c.39014-117T>A - IntronicSNV - 38/83 1
19-9009840-G-C c.39014-128C>G - IntronicSNV - 38/83 1
19-9009851-C-T c.39014-139G>A - IntronicSNV - 38/83 3
19-9010317-C-T c.39013+331G>A - IntronicSNV - 38/83 1
19-9010505-C-T c.39013+143G>A - IntronicSNV - 38/83 1
19-9010610-AGG-A c.39013+37_39013+38del - IntronicDeletion - 38/83 1
19-9010618-G-C c.39013+30C>G - IntronicSNV - 38/83 2
19-9010622-T-C c.39013+26A>G - IntronicSNV - 38/83 2
19-9010627-A-G c.39013+21T>C - IntronicSNV - 38/83 2
19-9010630-T-C c.39013+18A>G - IntronicSNV - 38/83 2
19-9010632-A-T c.39013+16T>A - IntronicSNV - 38/83 2
19-9010648-T-C c.39013A>G p.T13005A Missense 38/84 - 15
19-9010650-G-A c.39011C>T p.T13004I Missense 38/84 - 7
19-9010650-G-T c.39011C>A p.T13004K Missense 38/84 - 2
19-9010653-G-A c.39008C>T p.P13003L Missense 38/84 - 2
19-9010654-G-A c.39007C>T p.P13003S Missense 38/84 - 3
19-9010655-G-C c.39006C>G p.S13002R Missense 38/84 - 5
19-9010655-G-T c.39006C>A p.S13002R Missense 38/84 - 8
19-9010657-T-G c.39004A>C p.S13002R Missense 38/84 - 5
19-9010657-T-C c.39004A>G p.S13002G Missense 38/84 - 1
19-9010658-G-A c.39003C>T p.P13001= Synonymous 38/84 - 6
19-9010658-G-C c.39003C>G p.P13001= Synonymous 38/84 - 2
19-9010658-G-T c.39003C>A p.P13001= Synonymous 38/84 - 2
19-9010659-G-A c.39002C>T p.P13001L Missense 38/84 - 1
19-9010661-G-A c.39000C>T p.L13000= Synonymous 38/84 - 5
19-9010661-G-T c.39000C>A p.L13000= Synonymous 38/84 - 4
19-9010661-G-C c.39000C>G p.L13000= Synonymous 38/84 - 1
19-9010663-G-A c.38998C>T p.L13000F Missense 38/84 - 3
19-9010663-G-C c.38998C>G p.L13000V Missense 38/84 - 1
19-9010664-G-A c.38997C>T p.S12999= Synonymous 38/84 - 5
19-9010665-G-A c.38996C>T p.S12999F Missense 38/84 - 8
19-9010666-A-G c.38995T>C p.S12999P Missense 38/84 - 3
19-9010667-G-A c.38994C>T p.S12998= Synonymous 38/84 - 1
19-9010668-G-A c.38993C>T p.S12998F Missense 38/84 - 4
19-9010671-G-A c.38990C>T p.P12997L Missense 38/84 - 5
19-9010674-G-A c.38987C>T p.T12996I Missense 38/84 - 3
19-9010675-T-C c.38986A>G p.T12996A Missense 38/84 - 2
19-9010675-T-G c.38986A>C p.T12996P Missense 38/84 - 1
19-9010676-C-A c.38985G>T p.G12995= Synonymous 38/84 - 2
19-9010676-C-T c.38985G>A p.G12995= Synonymous 38/84 - 6
19-9010676-C-G c.38985G>C p.G12995= Synonymous 38/84 - 2
19-9010677-C-T c.38984G>A p.G12995E Missense 38/84 - 11
19-9010678-C-A c.38983G>T p.G12995W Missense 38/84 - 1
19-9010675-TC-T c.38985del p.T12996Lfs*70 Frameshift 38/84 - 1
19-9010679-T-A c.38982A>T p.S12994= Synonymous 38/84 - 5
19-9010679-T-C c.38982A>G p.S12994= Synonymous 38/84 - 2
19-9010679-T-G c.38982A>C p.S12994= Synonymous 38/84 - 2
19-9010681-A-T c.38980T>A p.S12994T Missense 38/84 - 2
19-9010682-G-A c.38979C>T p.T12993= Synonymous 38/84 - 1
19-9010682-G-T c.38979C>A p.T12993= Synonymous 38/84 - 1
19-9010682-G-C c.38979C>G p.T12993= Synonymous 38/84 - 1
19-9010683-G-C c.38978C>G p.T12993S Missense 38/84 - 3
19-9010684-T-A c.38977A>T p.T12993S Missense 38/84 - 2
19-9010684-T-TTG c.38976_38977insCA p.T12993Qfs*74 Frameshift 38/84 - 2
19-9010685-C-T c.38976G>A p.G12992= Synonymous 38/84 - 5
19-9010685-C-A c.38976G>T p.G12992= Synonymous 38/84 - 2
19-9010685-C-G c.38976G>C p.G12992= Synonymous 38/84 - 2
19-9010687-C-G c.38974G>C p.G12992R Missense 38/84 - 1
19-9010687-C-A c.38974G>T p.G12992W Missense 38/84 - 1
19-9010688-A-T c.38973T>A p.L12991= Synonymous 38/84 - 5
19-9010688-A-C c.38973T>G p.L12991= Synonymous 38/84 - 3
19-9010688-A-G c.38973T>C p.L12991= Synonymous 38/84 - 3
19-9010689-A-C c.38972T>G p.L12991R Missense 38/84 - 7
19-9010693-C-G c.38968G>C p.D12990H Missense 38/84 - 8
19-9010694-C-T c.38967G>A p.V12989= Synonymous 38/84 - 4
19-9010694-C-G c.38967G>C p.V12989= Synonymous 38/84 - 3
19-9010694-C-A c.38967G>T p.V12989= Synonymous 38/84 - 3
19-9010703-G-T c.38958C>A p.T12986= Synonymous 38/84 - 2
19-9010706-C-A c.38955G>T p.G12985= Synonymous 38/84 - 1
19-9010706-C-T c.38955G>A p.G12985= Synonymous 38/84 - 1
19-9010706-C-G c.38955G>C p.G12985= Synonymous 38/84 - 1
19-9010710-G-A c.38951C>T p.P12984L Missense 38/84 - 2
19-9010711-G-A c.38950C>T p.P12984S Missense 38/84 - 3
19-9010720-A-G c.38948-7T>C - IntronicSNV - 37/83 5
19-9010725-T-A c.38948-12A>T - IntronicSNV - 37/83 1
19-9010725-T-C c.38948-12A>G - IntronicSNV - 37/83 1
19-9010748-A-T c.38948-35T>A - IntronicSNV - 37/83 1
19-9010954-T-A c.38947+17A>T - IntronicSNV - 37/83 1
19-9010954-T-G c.38947+17A>C - IntronicSNV - 37/83 1
19-9010956-G-C c.38947+15C>G - IntronicSNV - 37/83 1
19-9010977-T-G c.38941A>C p.T12981P Missense 37/84 - 1
19-9010979-G-T c.38939C>A p.P12980H Missense 37/84 - 3
19-9010979-G-A c.38939C>T p.P12980L Missense 37/84 - 2
19-9010980-G-T c.38938C>A p.P12980T Missense 37/84 - 1
19-9010987-A-C c.38931T>G p.S12977= Synonymous 37/84 - 1
19-9010987-A-G c.38931T>C p.S12977= Synonymous 37/84 - 1
19-9010987-A-T c.38931T>A p.S12977= Synonymous 37/84 - 1
19-9010988-G-A c.38930C>T p.S12977F Missense 37/84 - 3
19-9010990-G-A c.38928C>T p.S12976= Synonymous 37/84 - 4
19-9010994-C-T c.38924G>A p.R12975Q Missense 37/84 - 3
19-9010995-G-A c.38923C>T p.R12975W Missense 37/84 - 4
19-9010998-G-A c.38920C>T p.H12974Y Missense 37/84 - 1
19-9011002-G-A c.38916C>T p.F12972= Synonymous 37/84 - 3
19-9011004-A-G c.38914T>C p.F12972L Missense 37/84 - 1
19-9011002-G-T c.38916C>A p.F12972L Missense 37/84 - 1
19-9011002-G-C c.38916C>G p.F12972L Missense 37/84 - 1
19-9011005-A-G c.38913T>C p.G12971= Synonymous 37/84 - 2
19-9011005-A-C c.38913T>G p.G12971= Synonymous 37/84 - 1
19-9011005-A-T c.38913T>A p.G12971= Synonymous 37/84 - 1
19-9011324-T-C c.38909A>G p.N12970S Missense 36/84 - 2
19-9011325-T-C c.38908A>G p.N12970D Missense 36/84 - 1
19-9011326-G-T c.38907C>A p.V12969= Synonymous 36/84 - 1
19-9011326-G-C c.38907C>G p.V12969= Synonymous 36/84 - 2
19-9011326-G-A c.38907C>T p.V12969= Synonymous 36/84 - 1
19-9011327-A-G c.38906T>C p.V12969A Missense 36/84 - 1
19-9011334-G-C c.38899C>G p.L12967V Missense 36/84 - 1
19-9011337-T-A c.38896A>T p.S12966C Missense 36/84 - 3
19-9011339-T-C c.38894A>G p.N12965S Missense 36/84 - 1
19-9011340-T-C c.38893A>G p.N12965D Missense 36/84 - 1
19-9011341-C-T c.38892G>A p.R12964= Synonymous 36/84 - 1
19-9011343-T-G c.38890A>C p.R12964= Synonymous 36/84 - 1
19-9011342-C-T c.38891G>A p.R12964K Missense 36/84 - 5
19-9011350-G-A c.38883C>T p.T12961= Synonymous 36/84 - 4
19-9011350-G-T c.38883C>A p.T12961= Synonymous 36/84 - 1
19-9011352-T-G c.38881A>C p.T12961P Missense 36/84 - 1
19-9011353-G-T c.38880C>A p.Y12960* Nonsense 36/84 - 1
19-9011358-G-T c.38875C>A p.P12959T Missense 36/84 - 1
19-9011355-AG-A c.38877del p.Y12960Tfs*106 Frameshift 36/84 - 1
19-9011360-C-T c.38873G>A p.G12958D Missense 36/84 - 1
19-9011363-A-T c.38870T>A p.L12957Q Missense 36/84 - 1
19-9011368-T-G c.38865A>C p.K12955N Missense 36/84 - 4
19-9011368-T-A c.38865A>T p.K12955N Missense 36/84 - 3
19-9011371-G-T c.38862C>A p.I12954= Synonymous 36/84 - 1
19-9011372-A-T c.38861T>A p.I12954N Missense 36/84 - 1
19-9011375-C-G c.38858G>C p.G12953A Missense 36/84 - 1
19-9011377-A-G c.38856T>C p.H12952= Synonymous 36/84 - 4
19-9011379-G-A c.38854C>T p.H12952Y Missense 36/84 - 1
19-9011381-G-C c.38852C>G p.T12951S Missense 36/84 - 1
19-9011382-T-A c.38851A>T p.T12951S Missense 36/84 - 4
19-9011386-C-T c.38847G>A p.Q12949= Synonymous 36/84 - 1
19-9011388-G-A c.38845C>T p.Q12949* Nonsense 36/84 - 5
19-9011397-C-T c.38836G>A p.E12946K Missense 36/84 - 5
19-9011397-C-G c.38836G>C p.E12946Q Missense 36/84 - 1
19-9011398-C-A c.38835G>T p.W12945C Missense 36/84 - 1
19-9011398-C-G c.38835G>C p.W12945C Missense 36/84 - 1
19-9011399-C-A c.38834G>T p.W12945L Missense 36/84 - 2
19-9011404-C-A c.38829G>T p.L12943= Synonymous 36/84 - 1
19-9011404-C-T c.38829G>A p.L12943= Synonymous 36/84 - 1
19-9011404-C-G c.38829G>C p.L12943= Synonymous 36/84 - 1
19-9011406-G-A c.38827C>T p.L12943= Synonymous 36/84 - 2
19-9011408-T-C c.38825A>G p.Q12942R Missense 36/84 - 1
19-9011409-G-A c.38824C>T p.Q12942* Nonsense 36/84 - 1
19-9011409-G-T c.38824C>A p.Q12942K Missense 36/84 - 1
19-9011410-C-G c.38823G>C p.E12941D Missense 36/84 - 1
19-9011410-C-A c.38823G>T p.E12941D Missense 36/84 - 1
19-9011412-C-T c.38821G>A p.E12941K Missense 36/84 - 8
19-9011414-C-G c.38819G>C p.R12940T Missense 36/84 - 2
19-9011417-T-C c.38816A>G p.N12939S Missense 36/84 - 1
19-9011419-G-C c.38814C>G p.L12938= Synonymous 36/84 - 4
19-9011419-G-A c.38814C>T p.L12938= Synonymous 36/84 - 2
19-9011419-G-T c.38814C>A p.L12938= Synonymous 36/84 - 2
19-9011422-T-A c.38811A>T p.G12937= Synonymous 36/84 - 1
19-9011422-T-C c.38811A>G p.G12937= Synonymous 36/84 - 1
19-9011422-T-G c.38811A>C p.G12937= Synonymous 36/84 - 1
19-9011423-C-T c.38810G>A p.G12937E Missense 36/84 - 1
19-9011427-G-A c.38806C>T p.P12936S Missense 36/84 - 1
19-9011428-G-C c.38805C>G p.S12935R Missense 36/84 - 1
19-9011428-G-T c.38805C>A p.S12935R Missense 36/84 - 1
19-9011430-T-G c.38803A>C p.S12935R Missense 36/84 - 1
19-9011429-C-T c.38804G>A p.S12935N Missense 36/84 - 2
19-9011431-T-C c.38802A>G p.K12934= Synonymous 36/84 - 1
19-9011429-CT-C c.38803del p.S12935Afs*13 Frameshift 36/84 - 1
19-9011433-T-G c.38800A>C p.K12934Q Missense 36/84 - 1
19-9011434-G-A c.38799C>T p.P12933= Synonymous 36/84 - 1
19-9011434-G-C c.38799C>G p.P12933= Synonymous 36/84 - 1
19-9011434-G-T c.38799C>A p.P12933= Synonymous 36/84 - 1
19-9011437-GGTC-G c.38794_38796del p.D12932del InFrameDeletion 36/84 - 1
19-9011438-T-G c.38795A>C p.D12932A Missense 36/84 - 1
19-9011439-C-T c.38794G>A p.D12932N Missense 36/84 - 1
19-9011440-A-ATT c.38792_38793insAA p.D12932Mfs*17 Frameshift 36/84 - 1
19-9011441-A-G c.38792T>C p.L12931P Missense 36/84 - 1
19-9011442-G-T c.38791C>A p.L12931I Missense 36/84 - 2
19-9011442-G-C c.38791C>G p.L12931V Missense 36/84 - 1
19-9011443-GAC-G c.38789_38790del p.R12930Pfs*2 Frameshift 36/84 - 1
19-9011450-C-G c.38783G>C p.S12928T Missense 36/84 - 1
19-9011450-GC-G c.38783del p.S12928Tfs*20 Frameshift 36/84 - 1
19-9011451-T-TAGAG c.38781_38782insCTCT p.S12928Lfs*2 Frameshift 36/84 - 1
19-9011452-G-A c.38781C>T p.C12927= Synonymous 36/84 - 1
19-9011460-C-T c.38773G>A p.A12925T Missense 36/84 - 1
19-9011461-A-G c.38772T>C p.D12924= Synonymous 36/84 - 3
19-9011463-C-T c.38770G>A p.D12924N Missense 36/84 - 6
19-9011464-C-T c.38769G>A p.M12923I Missense 36/84 - 4
19-9011464-C-G c.38769G>C p.M12923I Missense 36/84 - 2
19-9011464-C-A c.38769G>T p.M12923I Missense 36/84 - 2
19-9011466-T-C c.38767A>G p.M12923V Missense 36/84 - 3
19-9011468-C-A c.38765G>T p.G12922V Missense 36/84 - 1
19-9011468-C-T c.38765G>A p.G12922E Missense 36/84 - 1
19-9011469-C-T c.38764G>A p.G12922R Missense 36/84 - 1
19-9011469-C-G c.38764G>C p.G12922R Missense 36/84 - 1
19-9011470-A-C c.38763T>G p.T12921= Synonymous 36/84 - 2
19-9011470-A-T c.38763T>A p.T12921= Synonymous 36/84 - 1
19-9011470-A-G c.38763T>C p.T12921= Synonymous 36/84 - 1
19-9011473-G-T c.38760C>A p.A12920= Synonymous 36/84 - 2
19-9011473-G-C c.38760C>G p.A12920= Synonymous 36/84 - 1
19-9011473-G-A c.38760C>T p.A12920= Synonymous 36/84 - 1
19-9011478-C-T c.38755G>A p.A12919T Missense 36/84 - 1
19-9011478-C-G c.38755G>C p.A12919P Missense 36/84 - 1
19-9011480-C-A c.38753G>T p.G12918V Missense 36/84 - 2
19-9011484-T-C c.38749A>G p.N12917D Missense 36/84 - 3
19-9011485-C-T c.38748G>A p.K12916= Synonymous 36/84 - 2
19-9011491-A-T c.38742T>A p.P12914= Synonymous 36/84 - 2
19-9011491-A-G c.38742T>C p.P12914= Synonymous 36/84 - 2
19-9011491-A-C c.38742T>G p.P12914= Synonymous 36/84 - 1
19-9011492-G-T c.38741C>A p.P12914H Missense 36/84 - 4
19-9011492-G-A c.38741C>T p.P12914L Missense 36/84 - 1
19-9011493-G-T c.38740C>A p.P12914T Missense 36/84 - 6
19-9012465-C-T c.38738+3G>A - IntronicSNV - 35/83 1
19-9012470-G-C c.38736C>G p.L12912= Synonymous 35/84 - 1
19-9012479-C-G c.38727G>C p.L12909= Synonymous 35/84 - 1
19-9012481-G-A c.38725C>T p.L12909= Synonymous 35/84 - 2
19-9012485-G-T c.38721C>A p.C12907* Nonsense 35/84 - 1
19-9012486-C-A c.38720G>T p.C12907F Missense 35/84 - 1
19-9012490-C-T c.38716G>A p.G12906S Missense 35/84 - 1
19-9012499-G-A c.38707C>T p.L12903= Synonymous 35/84 - 1
19-9012501-A-G c.38705T>C p.L12902P Missense 35/84 - 4
19-9012504-C-T c.38702G>A p.G12901D Missense 35/84 - 1
19-9012503-GC-G c.38702del p.G12901Afs*9 Frameshift 35/84 - 1
19-9012506-G-A c.38700C>T p.V12900= Synonymous 35/84 - 2
19-9012506-G-T c.38700C>A p.V12900= Synonymous 35/84 - 1
19-9012506-G-C c.38700C>G p.V12900= Synonymous 35/84 - 1
19-9012507-A-G c.38699T>C p.V12900A Missense 35/84 - 2
19-9012508-AC-A c.38698del p.V12900Sfs*10 Frameshift 35/84 - 1
19-9012508-C-T c.38698G>A p.V12900I Missense 35/84 - 4
19-9012512-G-A c.38694C>T p.T12898= Synonymous 35/84 - 1
19-9012513-G-A c.38693C>T p.T12898I Missense 35/84 - 3
19-9012514-T-C c.38692A>G p.T12898A Missense 35/84 - 1
19-9012515-G-A c.38691C>T p.N12897= Synonymous 35/84 - 3
19-9012516-T-C c.38690A>G p.N12897S Missense 35/84 - 1
19-9012526-T-G c.38680A>C p.M12894L Missense 35/84 - 2
19-9012526-T-A c.38680A>T p.M12894L Missense 35/84 - 2
19-9012529-G-A c.38677C>T p.P12893S Missense 35/84 - 2
19-9012530-A-C c.38676T>G p.G12892= Synonymous 35/84 - 2
19-9012530-A-T c.38676T>A p.G12892= Synonymous 35/84 - 2
19-9012530-A-G c.38676T>C p.G12892= Synonymous 35/84 - 2
19-9012531-C-A c.38675G>T p.G12892V Missense 35/84 - 1
19-9012535-G-T c.38671C>A p.L12891I Missense 35/84 - 7
19-9012578-C-T c.38671-43G>A - IntronicSNV - 34/83 1
19-9012589-G-A c.38671-54C>T - IntronicSNV - 34/83 1
19-9012749-G-A c.38670+25C>T - IntronicSNV - 34/83 1
19-9012756-GGA-G c.38670+16_38670+17del - IntronicDeletion - 34/83 1
19-9012761-G-T c.38670+13C>A - IntronicSNV - 34/83 1
19-9012766-AG-A c.38670+8del - IntronicDeletion - 34/83 1
19-9012767-C-T c.38670+7G>A - IntronicSNV - 34/83 1
19-9012768-A-T c.38670+6T>A - IntronicSNV - 34/83 1
19-9012771-A-C c.38670+3T>G - IntronicSNV - 34/83 1
19-9012774-C-T c.38670G>A p.L12890= Synonymous 34/84 - 5
19-9012774-C-A c.38670G>T p.L12890= Synonymous 34/84 - 1
19-9012774-C-G c.38670G>C p.L12890= Synonymous 34/84 - 1
19-9012776-G-A c.38668C>T p.L12890= Synonymous 34/84 - 1
19-9012775-A-G c.38669T>C p.L12890P Missense 34/84 - 1
19-9012778-C-T c.38666G>A p.G12889D Missense 34/84 - 1
19-9012779-C-T c.38665G>A p.G12889S Missense 34/84 - 1
19-9012783-C-T c.38661G>A p.L12887= Synonymous 34/84 - 2
19-9012785-G-T c.38659C>A p.L12887M Missense 34/84 - 2
19-9012786-G-T c.38658C>A p.V12886= Synonymous 34/84 - 2
19-9012786-G-C c.38658C>G p.V12886= Synonymous 34/84 - 1
19-9012786-G-A c.38658C>T p.V12886= Synonymous 34/84 - 1
19-9012787-A-G c.38657T>C p.V12886A Missense 34/84 - 1
19-9012789-C-T c.38655G>A p.R12885= Synonymous 34/84 - 5
19-9012790-C-T c.38654G>A p.R12885Q Missense 34/84 - 1
19-9012790-C-G c.38654G>C p.R12885P Missense 34/84 - 1
19-9012790-C-A c.38654G>T p.R12885L Missense 34/84 - 1
19-9012791-G-T c.38653C>A p.R12885= Synonymous 34/84 - 9
19-9012789-C-G c.38655G>C p.R12885= Synonymous 34/84 - 3
19-9012789-C-A c.38655G>T p.R12885= Synonymous 34/84 - 3
19-9012791-G-A c.38653C>T p.R12885W Missense 34/84 - 1
19-9012794-C-T c.38650G>A p.E12884K Missense 34/84 - 9
19-9012795-C-T c.38649G>A p.T12883= Synonymous 34/84 - 6
19-9012800-T-C c.38644A>G p.T12882A Missense 34/84 - 4
19-9012801-G-A c.38643C>T p.N12881= Synonymous 34/84 - 2
19-9012802-T-C c.38642A>G p.N12881S Missense 34/84 - 1
19-9012810-C-T c.38634G>A p.R12878= Synonymous 34/84 - 5
19-9012813-G-A c.38631C>T p.S12877= Synonymous 34/84 - 5
19-9012813-G-C c.38631C>G p.S12877= Synonymous 34/84 - 1
19-9012813-G-T c.38631C>A p.S12877= Synonymous 34/84 - 1
19-9012814-G-T c.38630C>A p.S12877Y Missense 34/84 - 5
19-9012816-G-A c.38628C>T p.G12876= Synonymous 34/84 - 6
19-9012816-G-T c.38628C>A p.G12876= Synonymous 34/84 - 6
19-9012816-G-C c.38628C>G p.G12876= Synonymous 34/84 - 2
19-9012819-T-A c.38625A>T p.P12875= Synonymous 34/84 - 11
19-9012819-T-C c.38625A>G p.P12875= Synonymous 34/84 - 2
19-9012819-T-G c.38625A>C p.P12875= Synonymous 34/84 - 2
19-9012820-G-A c.38624C>T p.P12875L Missense 34/84 - 1
19-9012820-G-T c.38624C>A p.P12875Q Missense 34/84 - 1
19-9012821-G-T c.38623C>A p.P12875T Missense 34/84 - 1
19-9012822-G-A c.38622C>T p.H12874= Synonymous 34/84 - 4
19-9012822-G-T c.38622C>A p.H12874Q Missense 34/84 - 1
19-9012823-T-C c.38621A>G p.H12874R Missense 34/84 - 11
19-9012823-T-G c.38621A>C p.H12874P Missense 34/84 - 1
19-9012825-A-T c.38619T>A p.H12873Q Missense 34/84 - 6
19-9012825-A-C c.38619T>G p.H12873Q Missense 34/84 - 2
19-9012826-T-C c.38618A>G p.H12873R Missense 34/84 - 12
19-9012828-C-T c.38616G>A p.M12872I Missense 34/84 - 1
19-9012830-T-G c.38614A>C p.M12872L Missense 34/84 - 1
19-9012830-T-A c.38614A>T p.M12872L Missense 34/84 - 1
19-9012832-T-G c.38612A>C p.D12871A Missense 34/84 - 9
19-9012833-C-T c.38611G>A p.D12871N Missense 34/84 - 5
19-9012833-C-A c.38611G>T p.D12871Y Missense 34/84 - 1
19-9012839-C-T c.38605G>A p.E12869K Missense 34/84 - 8