TEK TEK receptor tyrosine kinase

Annotation transcript: NM_000459.5

336 unique variant annotations were identified in 227 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
9-27109606-C-A c.18C>A p.S6R Missense 1/23 - 1
9-27109625-AG-CA c.37_38delinsCA p.S13H Missense 1/23 - 1
9-27109625-AG-GA c.37_38delinsGA p.S13D Missense 1/23 - 1
9-27109625-AG-GC c.37_38delinsGC p.S13A Missense 1/23 - 3
9-27109625-A-T c.37A>T p.S13C Missense 1/23 - 2
9-27109626-GC-AG c.38_39delinsAG p.S13K Missense 1/23 - 1
9-27109626-G-T c.38G>T p.S13I Missense 1/23 - 1
9-27109637-T-G c.49T>G p.S17A Missense 1/23 - 2
9-27109638-C-G c.50C>G p.S17C Missense 1/23 - 2
9-27109640-G-A c.52G>A p.G18R Missense 1/23 - 1
9-27109640-G-C c.52G>C p.G18R Missense 1/23 - 1
9-27109641-G-T c.52+1G>T - IntronicSNV - 1/22 1
9-27112311-G-T c.52+2671G>T - IntronicSNV - 1/22 1
9-27114726-A-G c.52+5086A>G - IntronicSNV - 1/22 1
9-27114726-A-T c.52+5086A>T - IntronicSNV - 1/22 1
9-27115768-C-T c.52+6128C>T - IntronicSNV - 1/22 1
9-27118707-G-A c.52+9067G>A - IntronicSNV - 1/22 1
9-27118807-A-G c.52+9167A>G - IntronicSNV - 1/22 1
9-27120369-G-T c.52+10729G>T - IntronicSNV - 1/22 1
9-27121906-T-C c.52+12266T>C - IntronicSNV - 1/22 1
9-27123260-A-G c.52+13620A>G - IntronicSNV - 1/22 2
9-27124745-A-C c.52+15105A>C - IntronicSNV - 1/22 2
9-27124745-A-T c.52+15105A>T - IntronicSNV - 1/22 2
9-27131571-C-A c.52+21931C>A - IntronicSNV - 1/22 1
9-27131571-C-G c.52+21931C>G - IntronicSNV - 1/22 1
9-27131571-C-T c.52+21931C>T - IntronicSNV - 1/22 1
9-27132073-T-G c.52+22433T>G - IntronicSNV - 1/22 1
9-27135831-C-T c.53-21998C>T - IntronicSNV - 1/22 1
9-27136577-C-A c.53-21252C>A - IntronicSNV - 1/22 1
9-27136577-C-T c.53-21252C>T - IntronicSNV - 1/22 1
9-27142444-A-G c.53-15385A>G - IntronicSNV - 1/22 1
9-27149669-T-C c.53-8160T>C - IntronicSNV - 1/22 1
9-27151394-G-A c.53-6435G>A - IntronicSNV - 1/22 1
9-27151706-G-A c.53-6123G>A - IntronicSNV - 1/22 1
9-27152292-C-G c.53-5537C>G - IntronicSNV - 1/22 1
9-27152292-C-T c.53-5537C>T - IntronicSNV - 1/22 1
9-27152343-C-A c.53-5486C>A - IntronicSNV - 1/22 1
9-27152343-C-T c.53-5486C>T - IntronicSNV - 1/22 1
9-27152682-A-T c.53-5147A>T - IntronicSNV - 1/22 1
9-27155544-C-T c.53-2285C>T - IntronicSNV - 1/22 1
9-27157831-AACTGTGGAAGGTGCCATGGACTTGATCTTGATCAATTCCCTACCTCTTGTATCTGATGC-A c.55_113del p.T19* InFrameDeletion 2/23 - 1
9-27157837-GAA-TGT c.61_63delinsTGT p.E21C Missense 2/23 - 1
9-27157838-A-C c.62A>C p.E21A Missense 2/23 - 1
9-27157839-A-C c.63A>C p.E21D Missense 2/23 - 1
9-27157839-A-T c.63A>T p.E21D Missense 2/23 - 1
9-27157845-C-A c.69C>A p.A23= Synonymous 2/23 - 2
9-27157845-C-G c.69C>G p.A23= Synonymous 2/23 - 2
9-27157845-C-T c.69C>T p.A23= Synonymous 2/23 - 2
9-27157885-GAT-AAG c.109_111delinsAAG p.D37K Missense 2/23 - 1
9-27157892-A-C c.116A>C p.E39A Missense 2/23 - 1
9-27157908-C-T c.132C>T p.C44= Synonymous 2/23 - 1
9-27157913-C-A c.137C>A p.A46D Missense 2/23 - 1
9-27157920-G-T c.144G>T p.G48= Synonymous 2/23 - 1
9-27157924-C-T c.148C>T p.R50C Missense 2/23 - 1
9-27157925-G-A c.149G>A p.R50H Missense 2/23 - 1
9-27157931-A-G c.155A>G p.H52R Missense 2/23 - 1
9-27157937-C-T c.161C>T p.P54L Missense 2/23 - 1
9-27157956-C-T c.180C>T p.D60= Synonymous 2/23 - 1
9-27157978-CA-GC c.202_203delinsGC p.H68A Missense 2/23 - 1
9-27157989-G-A c.213G>A p.P71= Synonymous 2/23 - 1
9-27157989-G-C c.213G>C p.P71= Synonymous 2/23 - 1
9-27157989-G-T c.213G>T p.P71= Synonymous 2/23 - 1
9-27158031-A-T c.255A>T p.K85N Missense 2/23 - 1
9-27158035-G-T c.259G>T p.V87F Missense 2/23 - 1
9-27158035-GT-AC c.259_260inv p.V87T Missense 2/23 - 1
9-27158038-T-C c.262T>C p.W88R Missense 2/23 - 1
9-27158039-G-A c.263G>A p.W88* Nonsense 2/23 - 1
9-27158040-G-A c.264G>A p.W88* Nonsense 2/23 - 1
9-27158053-GC-TG c.277_278delinsTG p.A93C Missense 2/23 - 1
9-27158068-G-A c.292G>A p.G98S Missense 2/23 - 1
9-27158085-A-C c.309A>C p.E103D Missense 2/23 - 3
9-27158085-A-T c.309A>T p.E103D Missense 2/23 - 3
9-27158095-C-T c.319C>T p.R107* Nonsense 2/23 - 1
9-27158104-GCA-TGT c.328_330delinsTGT p.A110C Missense 2/23 - 1
9-27158116-C-T c.340C>T p.R114* Nonsense 2/23 - 1
9-27158117-G-A c.341G>A p.R114Q Missense 2/23 - 1
9-27158119-AC-TG c.343_344delinsTG p.T115C Missense 2/23 - 1
9-27158131-C-T c.355C>T p.R119C Missense 2/23 - 1
9-27158132-G-A c.356G>A p.R119H Missense 2/23 - 1
9-27165030-A-G c.365-3463A>G - IntronicSNV - 2/22 1
9-27168521-G-A c.393G>A p.M131I Missense 3/23 - 1
9-27168535-G-T c.407G>T p.G136V Missense 3/23 - 1
9-27168549-A-AT c.422dup p.S142Ifs*8 Frameshift 3/23 - 1
9-27168553-C-G c.425C>G p.S142C Missense 3/23 - 1
9-27168564-G-C c.436G>C p.V146L Missense 3/23 - 1
9-27168571-T-C c.443T>C p.I148T Missense 3/23 - 2
9-27168576-G-T c.448G>T p.E150* Nonsense 3/23 - 1
9-27168594-T-C c.466T>C p.Y156H Missense 3/23 - 1
9-27168704-T-C c.475+101T>C - IntronicSNV - 3/22 1
9-27169507-G-C c.508G>C p.V170L Missense 4/23 - 1
9-27169537-C-G c.538C>G p.H180D Missense 4/23 - 1
9-27169549-C-T c.550C>T p.Q184* Nonsense 4/23 - 1
9-27169552-G-A c.553G>A p.D185N Missense 4/23 - 1
9-27169553-ATGCT-G c.554_558delinsG p.D185Gfs*9 Frameshift 4/23 - 1
9-27169562-T-G c.563T>G p.V188G Missense 4/23 - 1
9-27169568-C-T c.569C>T p.S190L Missense 4/23 - 1
9-27169577-A-G c.578A>G p.Y193C Missense 4/23 - 1
9-27169591-C-T c.592C>T p.L198F Missense 4/23 - 1
9-27169596-C-T c.597C>T p.F199= Synonymous 4/23 - 1
9-27169601-C-A c.602C>A p.S201* Nonsense 4/23 - 1
9-27169601-C-T c.602C>T p.S201L Missense 4/23 - 1
9-27169621-G-A c.622G>A p.V208I Missense 4/23 - 1
9-27170308-C-A c.628+681C>A - IntronicSNV - 4/22 1
9-27170308-C-G c.628+681C>G - IntronicSNV - 4/22 1
9-27170308-C-T c.628+681C>T - IntronicSNV - 4/22 1
9-27172626-A-C c.641A>C p.Q214P Missense 5/23 - 2
9-27172655-T-A c.670T>A p.C224S Missense 5/23 - 1
9-27172656-G-C c.671G>C p.C224S Missense 5/23 - 1
9-27172667-A-G c.682A>G p.M228V Missense 5/23 - 1
9-27172683-G-A c.698G>A p.C233Y Missense 5/23 - 1
9-27172684-C-T c.699C>T p.C233= Synonymous 5/23 - 1
9-27172711-C-T c.726C>T p.C242= Synonymous 5/23 - 2
9-27172715-C-T c.730C>T p.P244S Missense 5/23 - 1
9-27172716-C-G c.731C>G p.P244R Missense 5/23 - 2
9-27172725-T-TG c.743dup p.R249Kfs*4 Frameshift 5/23 - 1
9-27172731-G-C c.746G>C p.R249T Missense 5/23 - 1
9-27172747-T-C c.760+2T>C - IntronicSNV - 5/22 2
9-27172838-C-A c.760+93C>A - IntronicSNV - 5/22 1
9-27172838-C-T c.760+93C>T - IntronicSNV - 5/22 1
9-27173062-G-A c.761-158G>A - IntronicSNV - 5/22 2
9-27173062-G-C c.761-158G>C - IntronicSNV - 5/22 2
9-27173062-G-T c.761-158G>T - IntronicSNV - 5/22 2
9-27173180-C-T c.761-40C>T - IntronicSNV - 5/22 1
9-27173250-G-T c.791G>T p.C264F Missense 6/23 - 1
9-27173258-AG-TA c.799_800delinsTA p.R267* Nonsense 6/23 - 1
9-27173303-CCCTG-C c.844_847del p.P282Tfs*66 Frameshift 6/23 - 1
9-27173302-C-CCCAGCCATATTCACCATCCA c.845_846insAGCCATATTCACCATCCACC p.D283Afs*73 Frameshift 6/23 - 1
9-27173306-G-GAT c.848_849insTA p.P284Tfs*66 Frameshift 6/23 - 1
9-27173314-T-A c.855T>A p.Y285* Nonsense 6/23 - 1
9-27173314-T-G c.855T>G p.Y285* Nonsense 6/23 - 1
9-27173341-G-C c.882G>C p.K294N Missense 6/23 - 1
9-27173341-G-T c.882G>T p.K294N Missense 6/23 - 1
9-27173357-G-A c.898G>A p.E300K Missense 6/23 - 1
9-27173358-A-G c.899A>G p.E300G Missense 6/23 - 1
9-27174170-A-T c.901+810A>T - IntronicSNV - 6/22 1
9-27179075-A-G c.902-1163A>G - IntronicSNV - 6/22 1
9-27179244-T-C c.902-994T>C - IntronicSNV - 6/22 1
9-27180247-C-T c.911C>T p.P304L Missense 7/23 - 2
9-27180257-C-A c.921C>A p.Y307* Nonsense 7/23 - 1
9-27180257-C-G c.921C>G p.Y307* Nonsense 7/23 - 1
9-27180269-T-C c.933T>C p.C311= Synonymous 7/23 - 1
9-27180329-C-A c.993C>A p.C331* Nonsense 7/23 - 1
9-27180340-G-A c.1004G>A p.W335* Nonsense 7/23 - 1
9-27180343-A-G c.1007A>G p.Q336R Missense 7/23 - 1
9-27182802-T-C c.1031-655T>C - IntronicSNV - 7/22 1
9-27183463-A-C c.1037A>C p.Q346P Missense 8/23 - 3
9-27183463-A-T c.1037A>T p.Q346L Missense 8/23 - 3
9-27183543-T-C c.1117T>C p.S373P Missense 8/23 - 1
9-27183583-T-TAGCCATATTCACCATCCACC c.1157_1158insAGCCATATTCACCATCCACC p.K387Afs*27 Frameshift 8/23 - 1
9-27183585-A-AAT c.1160_1161insTA p.K387Nfs*21 Frameshift 8/23 - 1
9-27185499-A-G c.1199A>G p.H400R Missense 9/23 - 1
9-27185502-C-T c.1202C>T p.T401M Missense 9/23 - 1
9-27185520-C-T c.1220C>T p.A407V Missense 9/23 - 1
9-27185537-C-T c.1237C>T p.R413W Missense 9/23 - 1
9-27185543-C-T c.1243C>T p.L415F Missense 9/23 - 1
9-27185586-T-TAGCCATATTCACCATCCACC c.1286_1287insAGCCATATTCACCATCCACC p.G431Ifs*25 Frameshift 9/23 - 1
9-27185588-G-GAT c.1288_1289insAT p.A430Dfs*20 Frameshift 9/23 - 1
9-27185606-C-T c.1306C>T p.P436S Missense 9/23 - 1
9-27185627-G-A c.1327G>A p.V443I Missense 9/23 - 1
9-27185762-T-G c.1327+135T>G - IntronicSNV - 9/22 1
9-27187216-C-G c.1327+1589C>G - IntronicSNV - 9/22 9
9-27187216-C-T c.1327+1589C>T - IntronicSNV - 9/22 9
9-27187422-G-T c.1327+1795G>T - IntronicSNV - 9/22 3
9-27190553-A-G c.1354A>G p.N452D Missense 10/23 - 1
9-27190608-A-G c.1409A>G p.Y470C Missense 10/23 - 1
9-27190632-C-T c.1433C>T p.S478F Missense 10/23 - 1
9-27190650-A-C c.1451A>C p.K484T Missense 10/23 - 1
9-27190655-G-A c.1456G>A p.V486I Missense 10/23 - 2
9-27190669-AGGCT-A c.1470_1473del p.E490Dfs*7 Frameshift 10/23 - 1
9-27190676-C-T c.1477C>T p.Q493* Nonsense 10/23 - 1
9-27190679-C-T c.1480C>T p.H494Y Missense 10/23 - 1
9-27190992-C-T c.1489+304C>T - IntronicSNV - 10/22 1
9-27191568-G-A c.1489+880G>A - IntronicSNV - 10/22 1
9-27192330-G-A c.1490-157G>A - IntronicSNV - 10/22 1
9-27192496-A-T c.1499A>T p.E500V Missense 11/23 - 1
9-27192508-T-C c.1511T>C p.L504P Missense 11/23 - 1
9-27192535-A-G c.1538A>G p.Y513C Missense 11/23 - 1
9-27192561-C-T c.1564C>T p.R522C Missense 11/23 - 1
9-27192562-G-A c.1565G>A p.R522H Missense 11/23 - 1
9-27192562-G-T c.1565G>T p.R522L Missense 11/23 - 1
9-27192585-C-G c.1588C>G p.P530A Missense 11/23 - 1
9-27192621-G-A c.1624G>A p.G542R Missense 11/23 - 1
9-27192626-G-A c.1624+5G>A - IntronicSNV - 11/22 1
9-27196119-T-G c.1625-1194T>G - IntronicSNV - 11/22 1
9-27196290-A-G c.1625-1023A>G - IntronicSNV - 11/22 1
9-27196290-A-T c.1625-1023A>T - IntronicSNV - 11/22 1
9-27197324-C-G c.1636C>G p.P546A Missense 12/23 - 1
9-27197411-T-C c.1723T>C p.Y575H Missense 12/23 - 1
9-27197448-A-G c.1760A>G p.D587G Missense 12/23 - 1
9-27197451-A-G c.1763A>G p.Q588R Missense 12/23 - 1
9-27197459-A-G c.1771A>G p.I591V Missense 12/23 - 1
9-27197473-C-A c.1785C>A p.G595= Synonymous 12/23 - 1
9-27197473-C-G c.1785C>G p.G595= Synonymous 12/23 - 1
9-27197473-C-T c.1785C>T p.G595= Synonymous 12/23 - 1
9-27197486-G-T c.1798G>T p.V600L Missense 12/23 - 1
9-27197486-GT-AA c.1798_1799delinsAA p.V600K Missense 12/23 - 1
9-27197487-T-A c.1799T>A p.V600E Missense 12/23 - 15
9-27197504-C-T c.1816C>T p.H606Y Missense 12/23 - 1
9-27197520-A-G c.1832A>G p.Y611C Missense 12/23 - 2
9-27197522-GT-AG c.1834_1835delinsAG p.V612R Missense 12/23 - 1
9-27197537-G-T c.1849G>T p.V617F Missense 12/23 - 1
9-27197538-T-C c.1850T>C p.V617A Missense 12/23 - 1
9-27197549-G-T c.1861G>T p.A621S Missense 12/23 - 1
9-27197574-T-C c.1886T>C p.L629P Missense 12/23 - 2
9-27197587-C-A c.1899C>A p.T633= Synonymous 12/23 - 1
9-27197587-C-G c.1899C>G p.T633= Synonymous 12/23 - 1
9-27197587-C-T c.1899C>T p.T633= Synonymous 12/23 - 1
9-27197597-A-G c.1909A>G p.I637V Missense 12/23 - 1
9-27200266-A-G c.1910-2552A>G - IntronicSNV - 12/22 1
9-27202284-G-T c.1910-534G>T - IntronicSNV - 12/22 1
9-27202663-G-A c.1910-155G>A - IntronicSNV - 12/22 1
9-27202663-G-C c.1910-155G>C - IntronicSNV - 12/22 1
9-27202838-A-C c.1930A>C p.N644H Missense 13/23 - 1
9-27202850-T-A c.1942T>A p.S648T Missense 13/23 - 1
9-27202870-A-G c.1962A>G p.S654= Synonymous 13/23 - 4
9-27202926-G-A c.2018G>A p.R673H Missense 13/23 - 1
9-27202937-C-A c.2029C>A p.Q677K Missense 13/23 - 1
9-27202952-GA-TG c.2044_2045delinsTG p.D682C Missense 13/23 - 1
9-27202961-G-A c.2053G>A p.V685I Missense 13/23 - 1
9-27202967-GTG-TAT c.2059_2061delinsTAT p.V687Y Missense 13/23 - 1
9-27202968-TG-AC c.2060_2061delinsAC p.V687D Missense 13/23 - 1
9-27202972-G-A c.2064G>A p.K688= Synonymous 13/23 - 1
9-27202979-AA-TG c.2071_2072delinsTG p.N691C Missense 13/23 - 1
9-27202983-C-G c.2075C>G p.A692G Missense 13/23 - 2
9-27202997-TA-GC c.2089_2090delinsGC p.Y697A Missense 13/23 - 1
9-27203006-A-G c.2098A>G p.K700E Missense 13/23 - 1
9-27203033-C-G c.2125C>G p.Q709E Missense 13/23 - 1
9-27203044-T-G c.2136T>G p.I712M Missense 13/23 - 1
9-27203053-G-C c.2145G>C p.E715D Missense 13/23 - 1
9-27203106-C-A c.2198C>A p.P733Q Missense 13/23 - 1
9-27203108-G-A c.2200G>A p.E734K Missense 13/23 - 1
9-27203134-A-G c.2209+17A>G - IntronicSNV - 13/22 2
9-27203134-A-T c.2209+17A>T - IntronicSNV - 13/22 2
9-27204915-C-T c.2216C>T p.A739V Missense 14/23 - 1
9-27204927-G-A c.2228G>A p.G743E Missense 14/23 - 1
9-27204927-G-C c.2228G>C p.G743A Missense 14/23 - 7
9-27204927-G-T c.2228G>T p.G743V Missense 14/23 - 1
9-27204931-G-GT c.2232_2233insT p.K745* Nonsense 14/23 - 1
9-27205021-G-A c.2322G>A p.R774= Synonymous 14/23 - 1
9-27205037-AG-CA c.2338_2339delinsCA p.R780Q Missense 14/23 - 1
9-27205061-G-A c.2362G>A p.V788M Missense 14/23 - 2
9-27206584-A-G c.2369A>G p.E790G Missense 15/23 - 2
9-27206594-T-A c.2379T>A p.A793= Synonymous 15/23 - 1
9-27206594-T-C c.2379T>C p.A793= Synonymous 15/23 - 1
9-27206594-T-G c.2379T>G p.A793= Synonymous 15/23 - 1
9-27206659-T-A c.2444T>A p.I815N Missense 15/23 - 1
9-27206694-C-G c.2479C>G p.Q827E Missense 15/23 - 1
9-27206697-G-C c.2482G>C p.D828H Missense 15/23 - 1
9-27206725-A-G c.2510A>G p.Q837R Missense 15/23 - 1
9-27206737-C-T c.2522C>T p.A841V Missense 15/23 - 2
9-27206740-G-A c.2525G>A p.R842H Missense 15/23 - 1
9-27206760-C-T c.2545C>T p.R849W Missense 15/23 - 31
9-27206766-G-T c.2551G>T p.D851Y Missense 15/23 - 1
9-27206779-A-G c.2564A>G p.K855R Missense 15/23 - 1
9-27209169-C-T c.2626C>T p.L876F Missense 16/23 - 1
9-27209182-G-A c.2639G>A p.G880E Missense 16/23 - 1
9-27209206-T-C c.2663T>C p.L888P Missense 16/23 - 1
9-27209221-A-T c.2678A>T p.E893V Missense 16/23 - 1
9-27209469-A-C c.2686+240A>C - IntronicSNV - 16/22 2
9-27212063-T-A c.2687-642T>A - IntronicSNV - 16/22 1
9-27212360-C-T c.2687-345C>T - IntronicSNV - 16/22 2
9-27212707-T-C c.2689T>C p.Y897H Missense 17/23 - 5
9-27212708-A-C c.2690A>C p.Y897S Missense 17/23 - 8
9-27212708-A-G c.2690A>G p.Y897C Missense 17/23 - 11
9-27212708-A-T c.2690A>T p.Y897F Missense 17/23 - 6
9-27212712-G-C c.2694G>C p.L898F Missense 17/23 - 1
9-27212712-G-T c.2694G>T p.L898F Missense 17/23 - 1
9-27212730-C-G c.2712C>G p.Y904* Nonsense 17/23 - 1
9-27212740-G-T c.2722G>T p.G908* Nonsense 17/23 - 1
9-27212758-C-T c.2740C>T p.L914F Missense 17/23 - 34
9-27212761-C-T c.2743C>T p.R915C Missense 17/23 - 7
9-27212762-G-A c.2744G>A p.R915H Missense 17/23 - 1
9-27212762-G-T c.2744G>T p.R915L Missense 17/23 - 4
9-27212768-G-T c.2750G>T p.S917I Missense 17/23 - 1
9-27212770-C-A c.2752C>A p.R918S Missense 17/23 - 1
9-27212770-C-T c.2752C>T p.R918C Missense 17/23 - 4
9-27212771-G-A c.2753G>A p.R918H Missense 17/23 - 2
9-27212773-G-T c.2755G>T p.V919L Missense 17/23 - 1
9-27212791-G-A c.2773G>A p.A925T Missense 17/23 - 1
9-27212791-G-T c.2773G>T p.A925S Missense 17/23 - 2
9-27212867-G-A c.2849G>A p.R950Q Missense 17/23 - 1
9-27212870-G-A c.2852G>A p.G951D Missense 17/23 - 1
9-27212873-T-C c.2855T>C p.M952T Missense 17/23 - 1
9-27213549-A-C c.2945A>C p.D982A Missense 18/23 - 2
9-27213554-G-T c.2950G>T p.G984* Nonsense 18/23 - 1
9-27213572-G-A c.2968G>A p.E990K Missense 18/23 - 1
9-27213580-T-C c.2976T>C p.Y992= Synonymous 18/23 - 2
9-27213581-G-A c.2977G>A p.V993M Missense 18/23 - 2
9-27214719-A-G c.2991+1124A>G - IntronicSNV - 18/22 1
9-27217702-G-A c.3008G>A p.R1003H Missense 19/23 - 3
9-27217705-G-A c.3011G>A p.W1004* Nonsense 19/23 - 1
9-27217822-G-A c.3062+66G>A - IntronicSNV - 19/22 1
9-27217822-G-C c.3062+66G>C - IntronicSNV - 19/22 1
9-27217851-G-A c.3062+95G>A - IntronicSNV - 19/22 1
9-27217851-G-C c.3062+95G>C - IntronicSNV - 19/22 1
9-27217947-T-A c.3062+191T>A - IntronicSNV - 19/22 1
9-27217947-T-C c.3062+191T>C - IntronicSNV - 19/22 1
9-27217947-T-G c.3062+191T>G - IntronicSNV - 19/22 1
9-27217992-T-A c.3062+236T>A - IntronicSNV - 19/22 1
9-27217992-T-C c.3062+236T>C - IntronicSNV - 19/22 1
9-27217992-T-G c.3062+236T>G - IntronicSNV - 19/22 1
9-27218777-G-T c.3065G>T p.W1022L Missense 20/23 - 1
9-27218784-T-A c.3072T>A p.Y1024* Nonsense 20/23 - 1
9-27218802-G-A c.3090G>A p.E1030= Synonymous 20/23 - 1
9-27218809-A-C c.3097A>C p.S1033R Missense 20/23 - 1
9-27218811-C-A c.3099C>A p.S1033R Missense 20/23 - 1
9-27218811-C-G c.3099C>G p.S1033R Missense 20/23 - 1
9-27218815-G-C c.3103G>C p.G1035R Missense 20/23 - 1
9-27220066-G-A c.3123G>A p.G1041= Synonymous 21/23 - 1
9-27220066-G-T c.3123G>T p.G1041= Synonymous 21/23 - 1
9-27220074-G-A c.3131G>A p.C1044Y Missense 21/23 - 1
9-27220076-G-A c.3133G>A p.A1045T Missense 21/23 - 1
9-27220079-G-C c.3136G>C p.E1046Q Missense 21/23 - 1
9-27220094-C-T c.3151C>T p.L1051= Synonymous 21/23 - 1
9-27220139-G-A c.3196G>A p.E1066K Missense 21/23 - 1
9-27228217-A-G c.3214A>G p.R1072G Missense 22/23 - 1
9-27228229-C-T c.3226C>T p.R1076W Missense 22/23 - 1
9-27228254-C-A c.3251C>A p.S1084* Nonsense 22/23 - 1
9-27228254-C-G c.3251C>G p.S1084* Nonsense 22/23 - 1
9-27228284-G-C c.3281G>C p.R1094T Missense 22/23 - 1
9-27228298-C-T c.3295C>T p.R1099* Nonsense 22/23 - 5
9-27228303-G-C c.3300G>C p.K1100N Missense 22/23 - 1
9-27228303-G-T c.3300G>T p.K1100N Missense 22/23 - 1
9-27228305-GT-G c.3300+2del - IntronicDeletion - 22/22 2
9-27229169-C-A c.3314C>A p.T1105N Missense 23/23 - 6
9-27229171-A-C c.3316A>C p.T1106P Missense 23/23 - 4
9-27229174-CTTTATGAGAAG-C c.3324_3334del p.E1109Lfs*5 Frameshift 23/23 - 1
9-27229179-T-A c.3324T>A p.Y1108* Nonsense 23/23 - 1
9-27229190-C-T c.3335C>T p.T1112I Missense 23/23 - 1
9-27229198-G-T c.3343G>T p.G1115* Nonsense 23/23 - 4
9-27229204-G-T c.3349G>T p.D1117Y Missense 23/23 - 1
9-27229544-C-G c.*314C>G - 3-UTRSNV 23/23 - 1
9-27229544-C-T c.*314C>T - 3-UTRSNV 23/23 - 1
9-27229611-C-G c.*381C>G - 3-UTRSNV 23/23 - 1
9-27229774-G-A c.*544G>A - 3-UTRSNV 23/23 - 2
9-27230152-G-A c.*922G>A - 3-UTRSNV 23/23 - 1