LDLR low density lipoprotein receptor

Annotation transcript: NM_000527.5

1549 unique variant annotations were identified in 951 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
19-11200225-A-C c.1A>C p.M1? Missense 1/18 - 2
19-11200225-A-G c.1A>G p.M1? Missense 1/18 - 1
19-11200225-A-T c.1A>T p.M1? Missense 1/18 - 3
19-11200228-G-C c.4G>C p.G2R Missense 1/18 - 1
19-11200230-G-A c.6G>A p.G2= Synonymous 1/18 - 1
19-11200230-G-C c.6G>C p.G2= Synonymous 1/18 - 1
19-11200230-G-T c.6G>T p.G2= Synonymous 1/18 - 1
19-11200233-C-A c.9C>A p.P3= Synonymous 1/18 - 2
19-11200233-C-G c.9C>G p.P3= Synonymous 1/18 - 2
19-11200233-C-T c.9C>T p.P3= Synonymous 1/18 - 2
19-11200234-CT-C c.10del p.W4Gfs*202 Frameshift 1/18 - 1
19-11200235-G-A c.11G>A p.W4* Nonsense 1/18 - 3
19-11200236-G-A c.12G>A p.W4* Nonsense 1/18 - 1
19-11200238-G-A c.14G>A p.G5D Missense 1/18 - 1
19-11200239-C-A c.15C>A p.G5= Synonymous 1/18 - 1
19-11200239-C-G c.15C>G p.G5= Synonymous 1/18 - 1
19-11200239-C-T c.15C>T p.G5= Synonymous 1/18 - 1
19-11200241-G-A c.17G>A p.W6* Nonsense 1/18 - 2
19-11200242-G-A c.18G>A p.W6* Nonsense 1/18 - 1
19-11200242-GAA-G c.20_21del p.K7Ifs*44 Frameshift 1/18 - 1
19-11200252-T-A c.28T>A p.W10R Missense 1/18 - 1
19-11200259-TCGC-T c.37_39del p.A13del InFrameDeletion 1/18 - 1
19-11200261-GCC-AGGGGTCTTGAG c.37_39delinsAGGGGTCTTGAG p.A13delinsRGLE MultiAAMissense 1/18 - 1
19-11200261-GCC-CAA c.37_39delinsCAA p.A13Q Missense 1/18 - 1
19-11200261-GC-TA c.37_38delinsTA p.A13Y Missense 1/18 - 1
19-11200261-GC-TT c.37_38delinsTT p.A13F Missense 1/18 - 1
19-11200262-C-A c.38C>A p.A13D Missense 1/18 - 1
19-11200262-CC-AG c.38_39delinsAG p.A13E Missense 1/18 - 1
19-11200262-C-G c.38C>G p.A13G Missense 1/18 - 2
19-11200262-C-T c.38C>T p.A13V Missense 1/18 - 1
19-11200271-T-C c.47T>C p.L16P Missense 1/18 - 1
19-11200274-C-A c.50C>A p.A17D Missense 1/18 - 1
19-11200276-G-A c.52G>A p.A18T Missense 1/18 - 1
19-11200276-G-C c.52G>C p.A18P Missense 1/18 - 1
19-11200276-GC-AA c.52_53delinsAA p.A18K Missense 1/18 - 1
19-11200276-GC-AG c.52_53delinsAG p.A18R Missense 1/18 - 1
19-11200276-GC-AT c.52_53delinsAT p.A18M Missense 1/18 - 1
19-11200276-GC-CA c.52_53delinsCA p.A18Q Missense 1/18 - 1
19-11200276-GC-CT c.52_53delinsCT p.A18L Missense 1/18 - 1
19-11200276-GCG-AAC c.52_54delinsAAC p.A18N Missense 1/18 - 1
19-11200276-GCG-ATC c.52_54delinsATC p.A18I Missense 1/18 - 1
19-11200276-GCG-CAT c.52_54delinsCAT p.A18H Missense 1/18 - 1
19-11200276-GCG-TTT c.52_54delinsTTT p.A18F Missense 1/18 - 2
19-11200276-G-T c.52G>T p.A18S Missense 1/18 - 1
19-11200277-C-A c.53C>A p.A18E Missense 1/18 - 1
19-11200277-C-G c.53C>G p.A18G Missense 1/18 - 1
19-11200277-C-T c.53C>T p.A18V Missense 1/18 - 1
19-11200279-GCG-TGT c.55_57delinsTGT p.A19C Missense 1/18 - 1
19-11200279-GCG-TTT c.55_57delinsTTT p.A19F Missense 1/18 - 1
19-11200282-G-A c.58G>A p.G20R Missense 1/18 - 8
19-11200282-G-C c.58G>C p.G20R Missense 1/18 - 2
19-11200288-GCA-CAT c.64_66delinsCAT p.A22H Missense 1/18 - 1
19-11200288-GCA-TTT c.64_66delinsTTT p.A22F Missense 1/18 - 2
19-11200289-C-A c.65C>A p.A22E Missense 1/18 - 1
19-11200289-CA-AC c.65_66delinsAC p.A22D Missense 1/18 - 1
19-11200289-C-G c.65C>G p.A22G Missense 1/18 - 1
19-11200290-A-C c.66A>C p.A22= Synonymous 1/18 - 1
19-11200290-A-G c.66A>G p.A22= Synonymous 1/18 - 1
19-11200290-A-T c.66A>T p.A22= Synonymous 1/18 - 1
19-11200323-G-C c.67+32G>C - IntronicSNV - 1/17 1
19-11200412-C-G c.67+121C>G - IntronicSNV - 1/17 2
19-11200412-C-T c.67+121C>T - IntronicSNV - 1/17 2
19-11200806-C-T c.67+515C>T - IntronicSNV - 1/17 1
19-11201124-T-C c.67+833T>C - IntronicSNV - 1/17 6
19-11201129-C-CG c.67+838_67+839insG - IntronicInsertion - 1/17 1
19-11201354-C-T c.67+1063C>T - IntronicSNV - 1/17 1
19-11201366-G-A c.67+1075G>A - IntronicSNV - 1/17 1
19-11202306-G-T c.67+2015G>T - IntronicSNV - 1/17 167
19-11202460-T-A c.67+2169T>A - IntronicSNV - 1/17 2
19-11205975-G-A c.68-4924G>A - IntronicSNV - 1/17 2
19-11205975-G-C c.68-4924G>C - IntronicSNV - 1/17 2
19-11206040-C-T c.68-4859C>T - IntronicSNV - 1/17 4
19-11206530-T-A c.68-4369T>A - IntronicSNV - 1/17 1
19-11206530-T-C c.68-4369T>C - IntronicSNV - 1/17 1
19-11206575-G-A c.68-4324G>A - IntronicSNV - 1/17 4
19-11206861-G-A c.68-4038G>A - IntronicSNV - 1/17 1
19-11207516-G-A c.68-3383G>A - IntronicSNV - 1/17 1
19-11207982-T-C c.68-2917T>C - IntronicSNV - 1/17 1
19-11209722-C-A c.68-1177C>A - IntronicSNV - 1/17 1
19-11210157-C-T c.68-742C>T - IntronicSNV - 1/17 1
19-11210898-G-A c.68-1G>A - IntronicSNV - 1/17 1
19-11210898-G-C c.68-1G>C - IntronicSNV - 1/17 1
19-11210899-T-A c.68T>A p.V23E Missense 2/18 - 1
19-11210899-TG-AC c.68_69delinsAC p.V23D Missense 2/18 - 1
19-11210904-GAC-AAG c.73_75delinsAAG p.D25K Missense 2/18 - 1
19-11210905-A-C c.74A>C p.D25A Missense 2/18 - 1
19-11210911-GC-AA c.80_81delinsAA p.C27* Missense 2/18 - 1
19-11210912-C-A c.81C>A p.C27* Nonsense 2/18 - 46
19-11210912-C-G c.81C>G p.C27W Missense 2/18 - 54
19-11210912-C-T c.81C>T p.C27= Synonymous 2/18 - 52
19-11210913-G-T c.82G>T p.E28* Nonsense 2/18 - 1
19-11210916-A-T c.85A>T p.R29* Nonsense 2/18 - 1
19-11210921-C-G c.90C>G p.N30K Missense 2/18 - 2
19-11210921-C-T c.90C>T p.N30= Synonymous 2/18 - 3
19-11210923-AGTTCCAGTGCCAAGACGG-A c.94_111del p.F32_G37del InFrameDeletion 2/18 - 1
19-11210926-T-C c.95T>C p.F32S Missense 2/18 - 1
19-11210928-C-T c.97C>T p.Q33* Nonsense 2/18 - 7
19-11210931-T-C c.100T>C p.C34R Missense 2/18 - 1
19-11210931-T-G c.100T>G p.C34G Missense 2/18 - 3
19-11210931-TG-AC c.100_101delinsAC p.C34T Missense 2/18 - 1
19-11210932-G-C c.101G>C p.C34S Missense 2/18 - 1
19-11210933-C-A c.102C>A p.C34* Nonsense 2/18 - 1
19-11210936-A-T c.105A>T p.Q35H Missense 2/18 - 1
19-11210937-G-A c.106G>A p.D36N Missense 2/18 - 1
19-11210938-A-C c.107A>C p.D36A Missense 2/18 - 1
19-11210940-CGGG-C c.109_111del p.G37del InFrameDeletion 2/18 - 1
19-11210940-G-A c.109G>A p.G37R Missense 2/18 - 1
19-11210943-A-T c.112A>T p.K38* Nonsense 2/18 - 1
19-11210944-A-C c.113A>C p.K38T Missense 2/18 - 1
19-11210945-A-AAATT c.114_115insAATT p.C39Nfs*14 Frameshift 2/18 - 1
19-11210947-GC-AA c.116_117delinsAA p.C39* Missense 2/18 - 1
19-11210947-G-T c.116G>T p.C39F Missense 2/18 - 2
19-11210948-C-A c.117C>A p.C39* Nonsense 2/18 - 1
19-11210949-CA-C c.118del p.I40Sfs*166 Frameshift 2/18 - 2
19-11210952-CTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCA-C c.121_179del p.S41Gfs*69 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 2/18 - 1
19-11210957-C-A c.126C>A p.Y42* Nonsense 2/18 - 2
19-11210960-G-C c.129G>C p.K43N Missense 2/18 - 2
19-11210961-T-G c.130T>G p.W44G Missense 2/18 - 1
19-11210962-G-A c.131G>A p.W44* Nonsense 2/18 - 8
19-11210962-G-T c.131G>T p.W44L Missense 2/18 - 1
19-11210963-G-A c.132G>A p.W44* Nonsense 2/18 - 1
19-11210967-T-G c.136T>G p.C46G Missense 2/18 - 1
19-11210968-G-A c.137G>A p.C46Y Missense 2/18 - 1
19-11210968-G-T c.137G>T p.C46F Missense 2/18 - 2
19-11210969-C-A c.138C>A p.C46* Nonsense 2/18 - 1
19-11210970-G-A c.139G>A p.D47N Missense 2/18 - 4
19-11210970-G-C c.139G>C p.D47H Missense 2/18 - 1
19-11210969-CGAT-C c.140_142del p.D47del InFrameDeletion 2/18 - 1
19-11210971-A-C c.140A>C p.D47A Missense 2/18 - 1
19-11210971-A-G c.140A>G p.D47G Missense 2/18 - 1
19-11210973-G-A c.142G>A p.G48S Missense 2/18 - 1
19-11210976-A-G c.145A>G p.S49G Missense 2/18 - 2
19-11210979-GC-TA c.148_149delinsTA p.A50Y Missense 2/18 - 1
19-11210979-GC-TG c.148_149delinsTG p.A50C Missense 2/18 - 1
19-11210979-G-T c.148G>T p.A50S Missense 2/18 - 3
19-11210982-G-C c.151G>C p.E51Q Missense 2/18 - 1
19-11210996-C-G c.165C>G p.G55= Synonymous 2/18 - 1
19-11210999-TGATGAGTCCCAGGA-T c.171_184del p.E58Vfs*67 Frameshift 2/18 - 1
19-11211009-C-T c.178C>T p.Q60* Nonsense 2/18 - 1
19-11211016-C-T c.185C>T p.T62M Missense 2/18 - 1
19-11211018-T-C c.187T>C p.C63R Missense 2/18 - 1
19-11211019-G-A c.188G>A p.C63Y Missense 2/18 - 2
19-11211025-A-G c.190+4A>G - IntronicSNV - 2/17 2
19-11211025-A-T c.190+4A>T - IntronicSNV - 2/17 4
19-11211077-G-A c.190+56G>A - IntronicSNV - 2/17 1
19-11211079-C-T c.190+58C>T - IntronicSNV - 2/17 1
19-11212146-C-T c.190+1125C>T - IntronicSNV - 2/17 1
19-11213340-GTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATT-G c.191_249del p.L64Sfs*46 Unclassified 3/18 - 3
19-11213340-T-C c.191T>C p.L64S Missense 3/18 - 1
19-11213342-T-A c.193T>A p.S65T Missense 3/18 - 1
19-11213343-C-CT c.195dup p.V66Cfs*64 Frameshift 3/18 - 2
19-11213349-C-T c.200C>T p.T67I Missense 3/18 - 1
19-11213351-T-C c.202T>C p.C68R Missense 3/18 - 2
19-11213352-G-A c.203G>A p.C68Y Missense 3/18 - 2
19-11213352-G-T c.203G>T p.C68F Missense 3/18 - 1
19-11213354-A-G c.205A>G p.K69E Missense 3/18 - 1
19-11213360-G-A c.211G>A p.G71R Missense 3/18 - 1
19-11213359-CG-C c.214del p.D72Tfs*134 Frameshift 3/18 - 2
19-11213366-TT-GC c.217_218delinsGC p.F73A Missense 3/18 - 1
19-11213367-T-G c.218T>G p.F73C Missense 3/18 - 1
19-11213372-T-A c.223T>A p.C75S Missense 3/18 - 1
19-11213373-G-C c.224G>C p.C75S Missense 3/18 - 1
19-11213373-G-A c.224G>A p.C75Y Missense 3/18 - 1
19-11213375-G-C c.226G>C p.G76R Missense 3/18 - 2
19-11213375-G-T c.226G>T p.G76W Missense 3/18 - 4
19-11213374-T-TG c.230dup p.R78Pfs*52 Frameshift 3/18 - 1
19-11213381-CG-GC c.232_233delinsGC p.R78A Missense 3/18 - 1
19-11213381-CGT-GAG c.232_234delinsGAG p.R78E Missense 3/18 - 1
19-11213381-C-T c.232C>T p.R78C Missense 3/18 - 3
19-11213382-G-A c.233G>A p.R78H Missense 3/18 - 2
19-11213387-AAC-CAA c.238_240delinsCAA p.N80Q Missense 3/18 - 1
19-11213390-C-A c.241C>A p.R81S Missense 3/18 - 1
19-11213390-C-T c.241C>T p.R81C Missense 3/18 - 8
19-11213393-CT-C c.244del p.C82Afs*124 Frameshift 3/18 - 1
19-11213393-T-G c.244T>G p.C82G Missense 3/18 - 1
19-11213394-G-C c.245G>C p.C82S Missense 3/18 - 1
19-11213394-G-T c.245G>T p.C82F Missense 3/18 - 1
19-11213395-C-A c.246C>A p.C82* Nonsense 3/18 - 1
19-11213396-A-G c.247A>G p.I83V Missense 3/18 - 1
19-11213396-AT-A c.249del p.P84Lfs*122 Frameshift 3/18 - 1
19-11213399-CC-GG c.250_251inv p.P84G Missense 3/18 - 1
19-11213399-C-T c.250C>T p.P84S Missense 3/18 - 1
19-11213402-C-T c.253C>T p.Q85* Nonsense 3/18 - 1
19-11213404-G-T c.255G>T p.Q85H Missense 3/18 - 1
19-11213408-T-A c.259T>A p.W87R Missense 3/18 - 3
19-11213408-T-C c.259T>C p.W87R Missense 3/18 - 3
19-11213408-T-G c.259T>G p.W87G Missense 3/18 - 13
19-11213409-G-A c.260G>A p.W87* Nonsense 3/18 - 2
19-11213409-GG-AA c.260_261delinsAA p.W87* Missense 3/18 - 1
19-11213410-G-A c.261G>A p.W87* Nonsense 3/18 - 2
19-11213413-G-C c.264G>C p.R88S Missense 3/18 - 1
19-11213413-G-T c.264G>T p.R88S Missense 3/18 - 1
19-11213414-T-C c.265T>C p.C89R Missense 3/18 - 2
19-11213414-T-G c.265T>G p.C89G Missense 3/18 - 1
19-11213415-G-A c.266G>A p.C89Y Missense 3/18 - 5
19-11213415-G-C c.266G>C p.C89S Missense 3/18 - 1
19-11213416-C-G c.267C>G p.C89W Missense 3/18 - 1
19-11213417-G-A c.268G>A p.D90N Missense 3/18 - 16
19-11213417-G-T c.268G>T p.D90Y Missense 3/18 - 5
19-11213419-T-A c.270T>A p.D90E Missense 3/18 - 3
19-11213419-T-G c.270T>G p.D90E Missense 3/18 - 2
19-11213420-G-C c.271G>C p.G91R Missense 3/18 - 1
19-11213419-TG-T c.272del p.G91Afs*115 Frameshift 3/18 - 2
19-11213432-T-G c.283T>G p.C95G Missense 3/18 - 3
19-11213433-G-T c.284G>T p.C95F Missense 3/18 - 2
19-11213434-C-A c.285C>A p.C95* Nonsense 3/18 - 4
19-11213434-C-G c.285C>G p.C95W Missense 3/18 - 3
19-11213435-G-A c.286G>A p.D96N Missense 3/18 - 1
19-11213438-A-C c.289A>C p.N97H Missense 3/18 - 1
19-11213440-C-G c.291C>G p.N97K Missense 3/18 - 1
19-11213441-G-A c.292G>A p.G98S Missense 3/18 - 9
19-11213441-G-C c.292G>C p.G98R Missense 3/18 - 2
19-11213442-G-T c.293G>T p.G98V Missense 3/18 - 1
19-11213445-C-A c.296C>A p.S99* Nonsense 3/18 - 1
19-11213445-C-G c.296C>G p.S99* Nonsense 3/18 - 3
19-11213448-A-T c.299A>T p.D100V Missense 3/18 - 1
19-11213449-C-T c.300C>T p.D100= Synonymous 3/18 - 2
19-11213450-G-A c.301G>A p.E101K Missense 3/18 - 11
19-11213450-G-T c.301G>T p.E101* Nonsense 3/18 - 1
19-11213451-A-T c.302A>T p.E101V Missense 3/18 - 1
19-11213452-AG-A c.303del p.E101Dfs*105 Frameshift 3/18 - 1
19-11213453-C-T c.304C>T p.Q102* Nonsense 3/18 - 2
19-11213457-G-C c.308G>C p.G103A Missense 3/18 - 1
19-11213459-T-C c.310T>C p.C104R Missense 3/18 - 2
19-11213460-G-A c.311G>A p.C104Y Missense 3/18 - 1
19-11213460-G-C c.311G>C p.C104S Missense 3/18 - 1
19-11213462-C-T c.313C>T p.P105S Missense 3/18 - 1
19-11213462-TCG-T c.313_313+1del - SpliceDonorDeletion 3/18 3/17 2
19-11213463-G-A c.313+1G>A - IntronicSNV - 3/17 14
19-11213463-G-C c.313+1G>C - IntronicSNV - 3/17 7
19-11213463-G-T c.313+1G>T - IntronicSNV - 3/17 3
19-11213463-G-GT c.313+2dup - IntronicInsertion - 3/17 2
19-11213464-T-A c.313+2T>A - IntronicSNV - 3/17 1
19-11213464-T-C c.313+2T>C - IntronicSNV - 3/17 2
19-11213466-AAGTGTGGCCCTGC-A c.313+4_313+16del - IntronicDeletion - 3/17 1
19-11213467-G-A c.313+5G>A - IntronicSNV - 3/17 3
19-11213467-G-T c.313+5G>T - IntronicSNV - 3/17 1
19-11213468-T-C c.313+6T>C - IntronicSNV - 3/17 1
19-11215896-CCCCCAAGACGTGCTCCCAGGA-C c.316_336del p.P106_D112del InFrameDeletion 4/18 - 1
19-11215898-C-T c.316C>T p.P106S Missense 4/18 - 1
19-11215897-CCCCAAGACGTGCT-C c.320_332del p.K107Rfs*95 Frameshift 4/18 - 2
19-11215900-CAAG-C c.320_322del p.K107del InFrameDeletion 4/18 - 1
19-11215905-C-T c.323C>T p.T108M Missense 4/18 - 1
19-11215902-AGACGTGCTCCCAG-A c.325_337del p.C109Sfs*93 Frameshift 4/18 - 1
19-11215907-T-A c.325T>A p.C109S Missense 4/18 - 1
19-11215907-T-C c.325T>C p.C109R Missense 4/18 - 1
19-11215907-T-G c.325T>G p.C109G Missense 4/18 - 1
19-11215908-G-A c.326G>A p.C109Y Missense 4/18 - 3
19-11215909-C-A c.327C>A p.C109* Nonsense 4/18 - 1
19-11215917-A-C c.335A>C p.D112A Missense 4/18 - 1
19-11215918-C-CT c.336_337insT p.E113* Nonsense 4/18 - 2
19-11215918-C-CG c.337dup p.E113Gfs*17 Frameshift 4/18 - 3
19-11215919-G-A c.337G>A p.E113K Missense 4/18 - 4
19-11215919-G-T c.337G>T p.E113* Nonsense 4/18 - 3
19-11215925-CGC-TGG c.343_345delinsTGG p.R115W Missense 4/18 - 1
19-11215925-C-T c.343C>T p.R115C Missense 4/18 - 4
19-11215926-G-A c.344G>A p.R115H Missense 4/18 - 10
19-11215926-GC-AA c.344_345delinsAA p.R115Q Missense 4/18 - 1
19-11215928-T-C c.346T>C p.C116R Missense 4/18 - 2
19-11215929-G-A c.347G>A p.C116Y Missense 4/18 - 1
19-11215929-G-C c.347G>C p.C116S Missense 4/18 - 1
19-11215929-TGCC-T c.347_349del p.C116_H117delinsY MultiAAMissense 4/18 - 1
19-11215932-A-ACTTC c.351_352insTTCC p.D118Ffs*13 Frameshift 4/18 - 1
19-11215934-G-A c.352G>A p.D118N Missense 4/18 - 2
19-11215934-G-T c.352G>T p.D118Y Missense 4/18 - 4
19-11215937-GGG-AGC c.355_357delinsAGC p.G119S Missense 4/18 - 1
19-11215937-G-GTTCC c.355_356insTTCC p.G119Vfs*12 Frameshift 4/18 - 2
19-11215936-TG-T c.357del p.K120Sfs*86 Frameshift 4/18 - 1
19-11215940-AA-GC c.358_359delinsGC p.K120A Missense 4/18 - 1
19-11215943-T-C c.361T>C p.C121R Missense 4/18 - 1
19-11215943-T-G c.361T>G p.C121G Missense 4/18 - 1
19-11215944-G-A c.362G>A p.C121Y Missense 4/18 - 1
19-11215945-C-A c.363C>A p.C121* Nonsense 4/18 - 1
19-11215943-TGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAG-T c.364_422del p.I122Lfs*38 InFrameDeletion 4/18 - 1
19-11215946-ATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCC-A c.367_425del p.S123Lfs*37 Frameshift 4/18 - 1
19-11215949-T-C c.367T>C p.S123P Missense 4/18 - 2
19-11215955-CA-GC c.373_374delinsGC p.Q125A Missense 4/18 - 1
19-11215955-C-T c.373C>T p.Q125* Nonsense 4/18 - 2
19-11215955-C-CACTG c.374_375insCTGA p.Q125Hfs*2 Frameshift 4/18 - 1
19-11215960-C-A c.378C>A p.F126L Missense 4/18 - 2
19-11215961-G-A c.379G>A p.V127I Missense 4/18 - 1
19-11215964-T-C c.382T>C p.C128R Missense 4/18 - 1
19-11215965-G-A c.383G>A p.C128Y Missense 4/18 - 3
19-11215965-G-T c.383G>T p.C128F Missense 4/18 - 1
19-11215967-G-A c.385G>A p.D129N Missense 4/18 - 1
19-11215967-GAC-TAA c.385_387delinsTAA p.D129* Nonsense 4/18 - 2
19-11215967-G-T c.385G>T p.D129Y Missense 4/18 - 1
19-11215968-A-C c.386A>C p.D129A Missense 4/18 - 1
19-11215968-A-G c.386A>G p.D129G Missense 4/18 - 1
19-11215970-T-TC c.389dup p.D131Rfs*49 Frameshift 4/18 - 2
19-11215971-C-G c.389C>G p.S130* Nonsense 4/18 - 1
19-11215974-AC-A c.394del p.R132Gfs*74 Frameshift 4/18 - 1
19-11215976-CGG-TAT c.394_396delinsTAT p.R132Y Missense 4/18 - 1
19-11215976-CGG-TGT c.394_396delinsTGT p.R132C Missense 4/18 - 1
19-11215976-C-T c.394C>T p.R132W Missense 4/18 - 1
19-11215977-G-A c.395G>A p.R132Q Missense 4/18 - 3
19-11215977-GG-AT c.395_396delinsAT p.R132H Missense 4/18 - 1
19-11215977-G-T c.395G>T p.R132L Missense 4/18 - 1
19-11215982-T-C c.400T>C p.C134R Missense 4/18 - 3
19-11215982-T-G c.400T>G p.C134G Missense 4/18 - 2
19-11215983-G-C c.401G>C p.C134S Missense 4/18 - 1
19-11215988-G-T c.406G>T p.D136Y Missense 4/18 - 1
19-11215989-A-T c.407A>T p.D136V Missense 4/18 - 3
19-11215990-AC-A c.408del p.D136Efs*70 Frameshift 4/18 - 1
19-11215990-C-G c.408C>G p.D136E Missense 4/18 - 1
19-11215991-G-A c.409G>A p.G137S Missense 4/18 - 3
19-11215991-G-C c.409G>C p.G137R Missense 4/18 - 1
19-11215995-C-A c.413C>A p.S138* Nonsense 4/18 - 1
19-11215995-C-G c.413C>G p.S138* Nonsense 4/18 - 1
19-11215997-G-C c.415G>C p.D139H Missense 4/18 - 4
19-11215998-A-G c.416A>G p.D139G Missense 4/18 - 1
19-11215998-A-T c.416A>T p.D139V Missense 4/18 - 1
19-11215999-C-A c.417C>A p.D139E Missense 4/18 - 1
19-11216000-G-A c.418G>A p.E140K Missense 4/18 - 7
19-11216000-G-T c.418G>T p.E140* Nonsense 4/18 - 4
19-11216001-A-G c.419A>G p.E140G Missense 4/18 - 1
19-11216002-G-C c.420G>C p.E140D Missense 4/18 - 4
19-11216002-G-T c.420G>T p.E140D Missense 4/18 - 1
19-11216002-GGCCTCCT-G c.424_430del p.S142Rfs*62 Frameshift 4/18 - 1
19-11216006-TC-GG c.424_425delinsGG p.S142G Missense 4/18 - 1
19-11216009-T-G c.427T>G p.C143G Missense 4/18 - 1
19-11216010-G-A c.428G>A p.C143Y Missense 4/18 - 3
19-11216011-C-A c.429C>A p.C143* Nonsense 4/18 - 1
19-11216014-G-GA c.432_433insA p.V145Sfs*35 Frameshift 4/18 - 2
19-11216013-C-CG c.433dup p.V145Gfs*35 Frameshift 4/18 - 1
19-11216022-C-T c.440C>T p.T147I Missense 4/18 - 1
19-11216025-G-A c.443G>A p.C148Y Missense 4/18 - 1
19-11216025-G-C c.443G>C p.C148S Missense 4/18 - 2
19-11216026-T-A c.444T>A p.C148* Nonsense 4/18 - 1
19-11216026-T-G c.444T>G p.C148W Missense 4/18 - 2
19-11216027-G-A c.445G>A p.G149S Missense 4/18 - 1
19-11216027-G-T c.445G>T p.G149C Missense 4/18 - 1
19-11216029-T-C c.447T>C p.G149= Synonymous 4/18 - 1
19-11216031-C-T c.449C>T p.P150L Missense 4/18 - 1
19-11216029-T-TC c.450dup p.A151Rfs*29 Frameshift 4/18 - 1
19-11216033-G-A c.451G>A p.A151T Missense 4/18 - 1
19-11216033-G-C c.451G>C p.A151P Missense 4/18 - 1
19-11216040-T-C c.458T>C p.F153S Missense 4/18 - 1
19-11216040-TC-T c.460del p.Q154Sfs*52 Frameshift 4/18 - 1
19-11216045-T-A c.463T>A p.C155S Missense 4/18 - 1
19-11216045-T-C c.463T>C p.C155R Missense 4/18 - 2
19-11216045-T-G c.463T>G p.C155G Missense 4/18 - 2
19-11216046-G-A c.464G>A p.C155Y Missense 4/18 - 2
19-11216047-C-A c.465C>A p.C155* Nonsense 4/18 - 1
19-11216048-AAC-CAA c.466_468delinsCAA p.N156Q Missense 4/18 - 1
19-11216060-T-C c.478T>C p.C160R Missense 4/18 - 2
19-11216060-T-G c.478T>G p.C160G Missense 4/18 - 2
19-11216061-G-T c.479G>T p.C160F Missense 4/18 - 1
19-11216067-C-T c.485C>T p.P162L Missense 4/18 - 1
19-11216069-C-T c.487C>T p.Q163* Nonsense 4/18 - 1
19-11216071-G-T c.489G>T p.Q163H Missense 4/18 - 1
19-11216076-G-C c.494G>C p.W165S Missense 4/18 - 1
19-11216081-T-C c.499T>C p.C167R Missense 4/18 - 1
19-11216081-TG-CT c.499_500delinsCT p.C167L Missense 4/18 - 1
19-11216082-G-A c.500G>A p.C167Y Missense 4/18 - 1
19-11216083-C-A c.501C>A p.C167* Nonsense 4/18 - 8
19-11216083-C-G c.501C>G p.C167W Missense 4/18 - 2
19-11216083-C-T c.501C>T p.C167= Synonymous 4/18 - 1
19-11216084-G-A c.502G>A p.D168N Missense 4/18 - 7
19-11216084-G-C c.502G>C p.D168H Missense 4/18 - 3
19-11216084-G-T c.502G>T p.D168Y Missense 4/18 - 1
19-11216085-A-G c.503A>G p.D168G Missense 4/18 - 1
19-11216085-ACAACGAC-A c.505_511del p.N169Pfs*35 Frameshift 4/18 - 1
19-11216089-C-T c.507C>T p.N169= Synonymous 4/18 - 1
19-11216090-G-A c.508G>A p.D170N Missense 4/18 - 2
19-11216091-A-G c.509A>G p.D170G Missense 4/18 - 1
19-11216096-G-A c.514G>A p.D172N Missense 4/18 - 3
19-11216096-G-C c.514G>C p.D172H Missense 4/18 - 3
19-11216096-G-T c.514G>T p.D172Y Missense 4/18 - 2
19-11216098-C-A c.516C>A p.D172E Missense 4/18 - 2
19-11216098-C-G c.516C>G p.D172E Missense 4/18 - 2
19-11216099-T-C c.517T>C p.C173R Missense 4/18 - 3
19-11216101-C-A c.519C>A p.C173* Nonsense 4/18 - 1
19-11216101-C-G c.519C>G p.C173W Missense 4/18 - 4
19-11216101-C-T c.519C>T p.C173= Synonymous 4/18 - 1
19-11216103-A-C c.521A>C p.E174A Missense 4/18 - 1
19-11216106-A-G c.524A>G p.D175G Missense 4/18 - 1
19-11216111-T-C c.529T>C p.S177P Missense 4/18 - 1
19-11216112-C-T c.530C>T p.S177L Missense 4/18 - 15
19-11216114-G-A c.532G>A p.D178N Missense 4/18 - 2
19-11216114-G-T c.532G>T p.D178Y Missense 4/18 - 1
19-11216115-A-T c.533A>T p.D178V Missense 4/18 - 1
19-11216116-T-G c.534T>G p.D178E Missense 4/18 - 3
19-11216117-G-A c.535G>A p.E179K Missense 4/18 - 1
19-11216117-G-T c.535G>T p.E179* Nonsense 4/18 - 1
19-11216118-A-C c.536A>C p.E179A Missense 4/18 - 1
19-11216121-G-A c.539G>A p.W180* Nonsense 4/18 - 1
19-11216124-C-T c.542C>T p.P181L Missense 4/18 - 2
19-11216126-C-T c.544C>T p.Q182* Nonsense 4/18 - 1
19-11216128-G-A c.546G>A p.Q182= Synonymous 4/18 - 1
19-11216132-T-C c.550T>C p.C184R Missense 4/18 - 2
19-11216132-T-G c.550T>G p.C184G Missense 4/18 - 1
19-11216132-TG-CT c.550_551delinsCT p.C184L Missense 4/18 - 1
19-11216133-G-A c.551G>A p.C184Y Missense 4/18 - 5
19-11216133-G-C c.551G>C p.C184S Missense 4/18 - 1
19-11216134-T-G c.552T>G p.C184W Missense 4/18 - 1
19-11216140-T-A c.558T>A p.G186= Synonymous 4/18 - 2
19-11216140-T-C c.558T>C p.G186= Synonymous 4/18 - 2
19-11216140-T-G c.558T>G p.G186= Synonymous 4/18 - 2
19-11216144-TA-GC c.562_563delinsGC p.Y188A Missense 4/18 - 1
19-11216146-C-A c.564C>A p.Y188* Nonsense 4/18 - 1
19-11216146-C-G c.564C>G p.Y188* Nonsense 4/18 - 1
19-11216147-G-A c.565G>A p.V189M Missense 4/18 - 1
19-11216147-GTG-ATC c.565_567delinsATC p.V189I Missense 4/18 - 1
19-11216153-C-T c.571C>T p.Q191* Nonsense 4/18 - 1
19-11216163-G-T c.581G>T p.S194I Missense 4/18 - 1
19-11216165-AG-GC c.583_584delinsGC p.S195A Missense 4/18 - 1
19-11216169-C-G c.587C>G p.P196R Missense 4/18 - 1
19-11216171-T-C c.589T>C p.C197R Missense 4/18 - 1
19-11216171-T-G c.589T>G p.C197G Missense 4/18 - 1
19-11216172-G-A c.590G>A p.C197Y Missense 4/18 - 4
19-11216172-G-T c.590G>T p.C197F Missense 4/18 - 1
19-11216175-C-A c.593C>A p.S198* Nonsense 4/18 - 1
19-11216180-T-A c.598T>A p.F200I Missense 4/18 - 1
19-11216181-T-G c.599T>G p.F200C Missense 4/18 - 1
19-11216183-G-A c.601G>A p.E201K Missense 4/18 - 3
19-11216187-TC-T c.607del p.H203Tfs*3 Frameshift 4/18 - 1
19-11216187-T-TC c.607dup p.H203Pfs*15 Frameshift 4/18 - 1
19-11216189-C-T c.607C>T p.H203Y Missense 4/18 - 1
19-11216191-AC-A c.609del p.C204Afs*2 Frameshift 4/18 - 1
19-11216193-G-A c.611G>A p.C204Y Missense 4/18 - 2
19-11216193-G-C c.611G>C p.C204S Missense 4/18 - 1
19-11216198-A-C c.616A>C p.S206R Missense 4/18 - 1
19-11216199-G-T c.617G>T p.S206I Missense 4/18 - 1
19-11216200-T-G c.618T>G p.S206R Missense 4/18 - 3
19-11216202-G-A c.620G>A p.G207D Missense 4/18 - 1
19-11216203-C-T c.621C>T p.G207= Synonymous 4/18 - 3
19-11216204-G-A c.622G>A p.E208K Missense 4/18 - 7
19-11216204-G-T c.622G>T p.E208* Nonsense 4/18 - 3
19-11216207-T-A c.625T>A p.C209S Missense 4/18 - 1
19-11216208-G-A c.626G>A p.C209Y Missense 4/18 - 4
19-11216210-A-T c.628A>T p.I210F Missense 4/18 - 1
19-11216223-G-A c.641G>A p.W214* Nonsense 4/18 - 1
19-11216223-G-C c.641G>C p.W214S Missense 4/18 - 2
19-11216224-G-C c.642G>C p.W214C Missense 4/18 - 1
19-11216225-CGC-GAG c.643_645delinsGAG p.R215E Missense 4/18 - 1
19-11216225-C-T c.643C>T p.R215C Missense 4/18 - 1
19-11216226-G-A c.644G>A p.R215H Missense 4/18 - 3
19-11216229-G-A c.647G>A p.C216Y Missense 4/18 - 1
19-11216229-G-T c.647G>T p.C216F Missense 4/18 - 1
19-11216228-TGTGATGGTG-T c.648_656del p.D217_G219del InFrameDeletion 4/18 - 1
19-11216233-TG-T c.653del p.G218Vfs*47 Frameshift 4/18 - 1
19-11216232-ATGG-A c.654_656del p.G219del InFrameDeletion 4/18 - 8
19-11216234-GGTGGCCCCGACTGCAAGGACAAATCTGAC-G c.654_682del p.P220Kfs*10 Frameshift 4/18 - 1
19-11216237-G-A c.655G>A p.G219S Missense 4/18 - 1
19-11216237-TGGC-T c.655_657del p.G219del InFrameDeletion 4/18 - 2
19-11216237-TGG-T c.655_656del p.G219Pfs*8 Frameshift 4/18 - 1
19-11216238-GCCCCGA-G c.658_663del p.P220_D221del InFrameDeletion 4/18 - 2
19-11216241-CCGA-C c.661_663del p.D221del InFrameDeletion 4/18 - 1
19-11216243-CG-C c.661del p.D221Tfs*44 Frameshift 4/18 - 1
19-11216243-G-A c.661G>A p.D221N Missense 4/18 - 6
19-11216243-G-T c.661G>T p.D221Y Missense 4/18 - 3
19-11216244-A-G c.662A>G p.D221G Missense 4/18 - 14
19-11216244-A-T c.662A>T p.D221V Missense 4/18 - 1
19-11216246-T-C c.664T>C p.C222R Missense 4/18 - 2
19-11216246-T-G c.664T>G p.C222G Missense 4/18 - 1
19-11216247-G-A c.665G>A p.C222Y Missense 4/18 - 1
19-11216247-G-T c.665G>T p.C222F Missense 4/18 - 3
19-11216248-C-A c.666C>A p.C222* Nonsense 4/18 - 5
19-11216248-GCAAGGACAAATCTGACGAGGAA-G c.666_687del p.C222* Frameshift 4/18 - 1
19-11216243-GACTGCAAGGACAAATCTGACGAGGAAA-G c.667_693del p.K223_C231del SpliceDonorDeletion 4/18 - 1
19-11216251-G-C c.669G>C p.K223N Missense 4/18 - 1
19-11216250-A-AG c.670dup p.D224Gfs*4 Frameshift 4/18 - 1
19-11216252-G-A c.670G>A p.D224N Missense 4/18 - 2
19-11216249-AAGGACAAATCTGACG-A c.672_686del p.D224_E228del InFrameDeletion 4/18 - 1
19-11216254-CA-C c.675del p.K225Nfs*40 Frameshift 4/18 - 1
19-11216258-T-C c.676T>C p.S226P Missense 4/18 - 2
19-11216259-C-CT c.678dup p.D227* Nonsense 4/18 - 1
19-11216261-GACG-GCGGTATGGACTGCA c.680_682delinsCGGTATGGACTGCA p.D227Afs*42 Frameshift 4/18 - 2
19-11216262-A-G c.680A>G p.D227G Missense 4/18 - 1
19-11216262-A-T c.680A>T p.D227V Missense 4/18 - 1
19-11216262-GAC-G c.680_681del p.D227Gfs*12 Frameshift 4/18 - 5
19-11216260-TGAC-T c.681_683del p.D227del InFrameDeletion 4/18 - 1
19-11216263-C-A c.681C>A p.D227E Missense 4/18 - 9
19-11216263-C-CTGAG c.681_682insTGAG p.E228* Nonsense 4/18 - 1
19-11216263-C-G c.681C>G p.D227E Missense 4/18 - 11
19-11216263-C-T c.681C>T p.D227= Synonymous 4/18 - 2
19-11216264-CG-C c.682del p.E228Rfs*37 Frameshift 4/18 - 1
19-11216264-G-A c.682G>A p.E228K Missense 4/18 - 21
19-11216264-G-C c.682G>C p.E228Q Missense 4/18 - 6
19-11216264-G-T c.682G>T p.E228* Nonsense 4/18 - 20
19-11216268-A-T c.686A>T p.E229V Missense 4/18 - 1
19-11216271-ACTG-A c.691_693del p.C231del InFrameDeletion 4/18 - 2
19-11216273-T-C c.691T>C p.C231R Missense 4/18 - 2
19-11216273-T-G c.691T>G p.C231G Missense 4/18 - 1
19-11216272-CTGCGGTATGGGCGGGGCCAGGG-C c.693_694+20del - SpliceDonorDeletion 4/18 4/17 1
19-11216275-C-A c.693C>A p.C231* Nonsense 4/18 - 2
19-11216275-C-G c.693C>G p.C231W Missense 4/18 - 2
19-11216277-G-A c.694+1G>A - IntronicSNV - 4/17 1
19-11216277-G-T c.694+1G>T - IntronicSNV - 4/17 1
19-11216278-T-C c.694+2T>C - IntronicSNV - 4/17 5
19-11216561-A-C c.694+285A>C - IntronicSNV - 4/17 7
19-11216561-A-T c.694+285A>T - IntronicSNV - 4/17 7
19-11216617-G-A c.694+341G>A - IntronicSNV - 4/17 2
19-11216617-G-C c.694+341G>C - IntronicSNV - 4/17 1
19-11216617-G-T c.694+341G>T - IntronicSNV - 4/17 1
19-11217250-CC-TG c.704_705delinsTG p.T235M Missense 5/18 - 1
19-11217251-C-A c.705C>A p.T235= Synonymous 5/18 - 1
19-11217251-C-G c.705C>G p.T235= Synonymous 5/18 - 1
19-11217251-C-T c.705C>T p.T235= Synonymous 5/18 - 1
19-11217255-CGC-TGG c.709_711delinsTGG p.R237W Missense 5/18 - 2
19-11217255-C-T c.709C>T p.R237C Missense 5/18 - 1
19-11217256-G-A c.710G>A p.R237H Missense 5/18 - 2
19-11217258-C-T c.712C>T p.P238S Missense 5/18 - 2
19-11217264-G-A c.718G>A p.E240K Missense 5/18 - 8
19-11217264-G-T c.718G>T p.E240* Nonsense 5/18 - 4
19-11217265-A-C c.719A>C p.E240A Missense 5/18 - 2
19-11217268-T-C c.722T>C p.F241S Missense 5/18 - 1
19-11217268-T-G c.722T>G p.F241C Missense 5/18 - 1
19-11217271-A-G c.725A>G p.Q242R Missense 5/18 - 1
19-11217272-G-C c.726G>C p.Q242H Missense 5/18 - 1
19-11217273-T-C c.727T>C p.C243R Missense 5/18 - 1
19-11217273-TG-AC c.727_728delinsAC p.C243T Missense 5/18 - 1
19-11217274-G-A c.728G>A p.C243Y Missense 5/18 - 3
19-11217277-C-G c.731C>G p.S244C Missense 5/18 - 1
19-11217281-T-A c.735T>A p.D245E Missense 5/18 - 2
19-11217281-T-G c.735T>G p.D245E Missense 5/18 - 2
19-11217282-GGA-AGC c.736_738delinsAGC p.G246S Missense 5/18 - 1
19-11217294-C-T c.748C>T p.H250Y Missense 5/18 - 1
19-11217296-T-TG c.752dup p.S252Qfs*5 Frameshift 5/18 - 1
19-11217300-AG-GC c.754_755delinsGC p.S252A Missense 5/18 - 1
19-11217303-C-T c.757C>T p.R253W Missense 5/18 - 2
19-11217304-G-A c.758G>A p.R253Q Missense 5/18 - 1
19-11217306-C-T c.760C>T p.Q254* Nonsense 5/18 - 2
19-11217307-A-C c.761A>C p.Q254P Missense 5/18 - 5
19-11217309-T-A c.763T>A p.C255S Missense 5/18 - 1
19-11217309-T-C c.763T>C p.C255R Missense 5/18 - 1
19-11217310-G-A c.764G>A p.C255Y Missense 5/18 - 1
19-11217314-C-A c.768C>A p.D256E Missense 5/18 - 2
19-11217314-C-G c.768C>G p.D256E Missense 5/18 - 1
19-11217315-CG-TA c.769_770delinsTA p.R257* Nonsense 5/18 - 1
19-11217315-C-T c.769C>T p.R257W Missense 5/18 - 13
19-11217316-G-A c.770G>A p.R257Q Missense 5/18 - 1
19-11217328-G-T c.782G>T p.C261F Missense 5/18 - 2
19-11217330-AA-GC c.784_785delinsGC p.K262A Missense 5/18 - 1
19-11217334-A-G c.788A>G p.D263G Missense 5/18 - 1
19-11217335-C-G c.789C>G p.D263E Missense 5/18 - 1
19-11217339-A-T c.793A>T p.S265C Missense 5/18 - 1
19-11217339-A-C c.793A>C p.S265R Missense 5/18 - 1
19-11217341-C-A c.795C>A p.S265R Missense 5/18 - 1
19-11217341-C-G c.795C>G p.S265R Missense 5/18 - 1
19-11217342-G-A c.796G>A p.D266N Missense 5/18 - 7
19-11217343-A-G c.797A>G p.D266G Missense 5/18 - 1
19-11217344-T-A c.798T>A p.D266E Missense 5/18 - 16
19-11217344-T-G c.798T>G p.D266E Missense 5/18 - 3
19-11217345-G-T c.799G>T p.E267* Nonsense 5/18 - 1
19-11217351-G-A c.805G>A p.G269S Missense 5/18 - 1
19-11217352-G-A c.806G>A p.G269D Missense 5/18 - 5
19-11217352-G-T c.806G>T p.G269V Missense 5/18 - 1
19-11217354-T-A c.808T>A p.C270S Missense 5/18 - 1
19-11217354-T-C c.808T>C p.C270R Missense 5/18 - 1
19-11217355-G-C c.809G>C p.C270S Missense 5/18 - 1
19-11217355-G-A c.809G>A p.C270Y Missense 5/18 - 2
19-11217356-C-A c.810C>A p.C270* Nonsense 5/18 - 2
19-11217357-G-A c.811G>A p.V271I Missense 5/18 - 6
19-11217360-AAT-CAA c.814_816delinsCAA p.N272Q Missense 5/18 - 1
19-11217361-A-C c.815A>C p.N272T Missense 5/18 - 1
19-11217364-G-A c.817+1G>A - IntronicSNV - 5/17 1
19-11217364-G-C c.817+1G>C - IntronicSNV - 5/17 1
19-11217364-G-T c.817+1G>T - IntronicSNV - 5/17 1
19-11217369-C-T c.817+6C>T - IntronicSNV - 5/17 1
19-11218066-A-G c.818-2A>G - IntronicSNV - 5/17 2
19-11218072-ACT-A c.825_826del p.C276Rfs*24 Frameshift 6/18 - 1
19-11218076-T-C c.826T>C p.C276R Missense 6/18 - 1
19-11218078-C-A c.828C>A p.C276* Nonsense 6/18 - 2
19-11218079-G-A c.829G>A p.E277K Missense 6/18 - 8
19-11218079-G-T c.829G>T p.E277* Nonsense 6/18 - 3
19-11218082-GGA-AGC c.832_834delinsAGC p.G278S Missense 6/18 - 1
19-11218085-C-T c.835C>T p.P279S Missense 6/18 - 1
19-11218094-T-C c.844T>C p.F282L Missense 6/18 - 2
19-11218096-C-A c.846C>A p.F282L Missense 6/18 - 2
19-11218096-C-G c.846C>G p.F282L Missense 6/18 - 2
19-11218100-T-A c.850T>A p.C284S Missense 6/18 - 1
19-11218100-T-C c.850T>C p.C284R Missense 6/18 - 2
19-11218103-C-A c.853C>A p.H285N Missense 6/18 - 1
19-11218104-A-G c.854A>G p.H285R Missense 6/18 - 1
19-11218108-C-A c.858C>A p.S286R Missense 6/18 - 8
19-11218108-C-T c.858C>T p.S286= Synonymous 6/18 - 1
19-11218109-G-A c.859G>A p.G287S Missense 6/18 - 2
19-11218109-G-T c.859G>T p.G287C Missense 6/18 - 1
19-11218110-G-A c.860G>A p.G287D Missense 6/18 - 1
19-11218112-G-A c.862G>A p.E288K Missense 6/18 - 6
19-11218112-G-T c.862G>T p.E288* Nonsense 6/18 - 1
19-11218115-AT-A c.865del p.C289Afs*81 Frameshift 6/18 - 1
19-11218119-T-G c.869T>G p.I290S Missense 6/18 - 1
19-11218124-C-CT c.875dup p.D293Gfs*8 Frameshift 6/18 - 1
19-11218137-G-A c.887G>A p.C296Y Missense 6/18 - 4
19-11218137-G-C c.887G>C p.C296S Missense 6/18 - 1
19-11218138-C-A c.888C>A p.C296* Nonsense 6/18 - 4
19-11218139-AA-GC c.889_890delinsGC p.N297A Missense 6/18 - 1
19-11218139-AA-GG c.889_890delinsGG p.N297G Missense 6/18 - 2
19-11218139-A-C c.889A>C p.N297H Missense 6/18 - 1
19-11218138-CA-C c.890del p.N297Tfs*73 Frameshift 6/18 - 1
19-11218140-AACAT-A c.890_893del p.N297Rfs*72 Frameshift 6/18 - 1
19-11218140-A-C c.890A>C p.N297T Missense 6/18 - 2
19-11218142-AT-CA c.892_893delinsCA p.M298Q Missense 6/18 - 1
19-11218142-CA-C c.892del p.M298Wfs*72 Frameshift 6/18 - 2
19-11218144-G-A c.894G>A p.M298I Missense 6/18 - 1
19-11218145-G-A c.895G>A p.A299T Missense 6/18 - 3
19-11218147-T-G c.897T>G p.A299= Synonymous 6/18 - 1
19-11218148-A-G c.898A>G p.R300G Missense 6/18 - 2
19-11218148-A-T c.898A>T p.R300* Nonsense 6/18 - 1
19-11218151-G-T c.901G>T p.D301Y Missense 6/18 - 3
19-11218152-A-G c.902A>G p.D301G Missense 6/18 - 5
19-11218152-A-T c.902A>T p.D301V Missense 6/18 - 1
19-11218155-G-T c.905G>T p.C302F Missense 6/18 - 4
19-11218156-C-G c.906C>G p.C302W Missense 6/18 - 1
19-11218157-C-A c.907C>A p.R303= Synonymous 6/18 - 1
19-11218157-C-G c.907C>G p.R303G Missense 6/18 - 1
19-11218157-CG-TA c.907_908delinsTA p.R303* Nonsense 6/18 - 1
19-11218157-C-T c.907C>T p.R303W Missense 6/18 - 2
19-11218159-G-A c.909G>A p.R303= Synonymous 6/18 - 1
19-11218159-G-C c.909G>C p.R303= Synonymous 6/18 - 1
19-11218159-G-T c.909G>T p.R303= Synonymous 6/18 - 1
19-11218158-G-A c.908G>A p.R303Q Missense 6/18 - 1
19-11218157-C-CG c.910dup p.D304Gfs*5 Frameshift 6/18 - 1
19-11218160-G-A c.910G>A p.D304N Missense 6/18 - 2
19-11218160-G-T c.910G>T p.D304Y Missense 6/18 - 1
19-11218162-C-A c.912C>A p.D304E Missense 6/18 - 3
19-11218162-C-G c.912C>G p.D304E Missense 6/18 - 5
19-11218164-G-C c.914G>C p.W305S Missense 6/18 - 2
19-11218167-C-A c.917C>A p.S306* Nonsense 6/18 - 2
19-11218167-C-G c.917C>G p.S306* Nonsense 6/18 - 2
19-11218167-C-T c.917C>T p.S306L Missense 6/18 - 7
19-11218169-G-A c.919G>A p.D307N Missense 6/18 - 1
19-11218170-A-T c.920A>T p.D307V Missense 6/18 - 1
19-11218171-T-A c.921T>A p.D307E Missense 6/18 - 1
19-11218172-G-A c.922G>A p.E308K Missense 6/18 - 2
19-11218173-A-G c.923A>G p.E308G Missense 6/18 - 1
19-11218173-AACCCATC-A c.925_931del p.P309Kfs*59 Frameshift 6/18 - 3
19-11218175-C-T c.925C>T p.P309S Missense 6/18 - 1
19-11218178-A-T c.928A>T p.I310F Missense 6/18 - 1
19-11218182-A-C c.932A>C p.K311T Missense 6/18 - 2
19-11218182-A-G c.932A>G p.K311R Missense 6/18 - 1
19-11218185-A-G c.935A>G p.E312G Missense 6/18 - 1
19-11218187-T-G c.937T>G p.C313G Missense 6/18 - 1
19-11218188-G-A c.938G>A p.C313Y Missense 6/18 - 1
19-11218188-GC-AT c.938_939delinsAT p.C313Y SpliceDonorBlockSubstitution 6/18 - 1
19-11218189-C-A c.939C>A p.C313* Nonsense 6/18 - 2
19-11218185-AGTGCGGTGAGTCTCG-A c.940_940+14del - SpliceDonorDeletion 6/18 6/17 4
19-11218191-G-A c.940+1G>A - IntronicSNV - 6/17 2
19-11218191-G-C c.940+1G>C - IntronicSNV - 6/17 2
19-11218191-G-T c.940+1G>T - IntronicSNV - 6/17 1
19-11218192-T-A c.940+2T>A - IntronicSNV - 6/17 1
19-11218192-T-C c.940+2T>C - IntronicSNV - 6/17 1
19-11218204-GC-G c.940+14del - IntronicDeletion - 6/17 1
19-11218226-G-A c.940+36G>A - IntronicSNV - 6/17 2
19-11218965-G-A c.940+775G>A - IntronicSNV - 6/17 2
19-11218965-G-T c.940+775G>T - IntronicSNV - 6/17 2
19-11219281-T-C c.940+1091T>C - IntronicSNV - 6/17 1
19-11221324-G-A c.941-4G>A - IntronicSNV - 6/17 1
19-11221324-G-C c.941-4G>C - IntronicSNV - 6/17 1
19-11221326-A-C c.941-2A>C - IntronicSNV - 6/17 1
19-11221326-A-G c.941-2A>G - IntronicSNV - 6/17 1
19-11221326-A-T c.941-2A>T - IntronicSNV - 6/17 1
19-11221328-G-A c.941G>A p.G314E Missense 7/18 - 1
19-11221328-G-C c.941G>C p.G314A Missense 7/18 - 1
19-11221331-C-T c.944C>T p.T315I Missense 7/18 - 1
19-11221334-A-G c.947A>G p.N316S Missense 7/18 - 2
19-11221336-G-A c.949G>A p.E317K Missense 7/18 - 4
19-11221336-G-T c.949G>T p.E317* Nonsense 7/18 - 1
19-11221336-GA-G c.951del p.E317Dfs*53 Frameshift 7/18 - 1
19-11221339-T-C c.952T>C p.C318R Missense 7/18 - 1
19-11221340-G-A c.953G>A p.C318Y Missense 7/18 - 1
19-11221341-C-G c.954C>G p.C318W Missense 7/18 - 1
19-11221352-A-T c.965A>T p.N322I Missense 7/18 - 1
19-11221354-G-A c.967G>A p.G323S Missense 7/18 - 2
19-11221354-G-T c.967G>T p.G323C Missense 7/18 - 1
19-11221357-G-A c.970G>A p.G324S Missense 7/18 - 1
19-11221357-G-T c.970G>T p.G324C Missense 7/18 - 2
19-11221356-CG-C c.971del p.G324Afs*46 Frameshift 7/18 - 2
19-11221361-G-A c.974G>A p.C325Y Missense 7/18 - 8
19-11221361-G-T c.974G>T p.C325F Missense 7/18 - 2
19-11221363-T-C c.976T>C p.S326P Missense 7/18 - 2
19-11221364-C-G c.977C>G p.S326C Missense 7/18 - 1
19-11221366-C-T c.979C>T p.H327Y Missense 7/18 - 5
19-11221366-C-CA c.980dup p.H327Qfs*5 Frameshift 7/18 - 1
19-11221373-G-A c.986G>A p.C329Y Missense 7/18 - 18
19-11221373-G-T c.986G>T p.C329F Missense 7/18 - 2
19-11221375-AA-CT c.988_989delinsCT p.N330L Missense 7/18 - 1
19-11221380-C-A c.993C>A p.D331E Missense 7/18 - 1
19-11221380-C-G c.993C>G p.D331E Missense 7/18 - 1
19-11221380-C-T c.993C>T p.D331= Synonymous 7/18 - 1
19-11221389-C-A c.1002C>T p.I334= Synonymous 7/18 - 1
19-11221390-G-A c.1003G>A p.G335S Missense 7/18 - 6
19-11221390-G-C c.1003G>C p.G335R Missense 7/18 - 1
19-11221390-G-T c.1003G>T p.G335C Missense 7/18 - 1
19-11221391-G-T c.1004G>T p.G335V Missense 7/18 - 2
19-11221393-T-A c.1006T>A p.Y336N Missense 7/18 - 1
19-11221394-A-G c.1007A>G p.Y336C Missense 7/18 - 1
19-11221395-AC-A c.1008del p.Y336* Frameshift 7/18 - 1
19-11221396-G-A c.1009G>A p.E337K Missense 7/18 - 2
19-11221399-T-A c.1012T>A p.C338S Missense 7/18 - 5
19-11221399-T-C c.1012T>C p.C338R Missense 7/18 - 1
19-11221399-T-G c.1012T>G p.C338G Missense 7/18 - 2
19-11221400-G-C c.1013G>C p.C338S Missense 7/18 - 1
19-11221400-G-A c.1013G>A p.C338Y Missense 7/18 - 1
19-11221401-C-A c.1014C>A p.C338* Nonsense 7/18 - 1
19-11221401-C-G c.1014C>G p.C338W Missense 7/18 - 1
19-11221402-CTG-GAC c.1015_1017delinsGAC p.L339D Missense 7/18 - 1
19-11221403-T-C c.1016T>C p.L339P Missense 7/18 - 1
19-11221405-TG-CT c.1018_1019delinsCT p.C340L Missense 7/18 - 2
19-11221406-G-A c.1019G>A p.C340Y Missense 7/18 - 2
19-11221406-GC-TG c.1019_1020delinsTG p.C340L Missense 7/18 - 1
19-11221406-G-T c.1019G>T p.C340F Missense 7/18 - 1
19-11221411-G-A c.1024G>A p.D342N Missense 7/18 - 1
19-11221414-G-A c.1027G>A p.G343S Missense 7/18 - 9
19-11221414-GGC-AAG c.1027_1029delinsAAG p.G343K Missense 7/18 - 3
19-11221414-G-T c.1027G>T p.G343C Missense 7/18 - 2
19-11221421-A-C c.1034A>C p.Q345P Missense 7/18 - 1
19-11221422-G-A c.1035G>A p.Q345= Synonymous 7/18 - 1
19-11221424-TG-AT c.1037_1038delinsAT p.L346H Missense 7/18 - 1
19-11221427-TG-T c.1042del p.A348Pfs*22 Frameshift 7/18 - 1
19-11221430-C-T c.1043C>T p.A348V Missense 7/18 - 1
19-11221429-GC-G c.1045del p.Q349Sfs*21 Frameshift 7/18 - 1
19-11221435-C-A c.1048C>A p.R350= Synonymous 7/18 - 1
19-11221435-C-G c.1048C>G p.R350G Missense 7/18 - 1
19-11221435-C-T c.1048C>T p.R350* Nonsense 7/18 - 14
19-11221441-T-A c.1054T>A p.C352S Missense 7/18 - 4
19-11221441-T-C c.1054T>C p.C352R Missense 7/18 - 3
19-11221442-G-C c.1055G>C p.C352S Missense 7/18 - 1
19-11221438-AGATGCGAAGGT-A c.1055_1060+5del - SpliceDonorDeletion 7/18 7/17 1
19-11221442-G-A c.1055G>A p.C352Y Missense 7/18 - 4
19-11221442-G-T c.1055G>T p.C352F Missense 7/18 - 2
19-11221443-C-A c.1056C>A p.C352* Nonsense 7/18 - 3
19-11221443-C-G c.1056C>G p.C352W Missense 7/18 - 2
19-11221443-C-T c.1056C>T p.C352= Synonymous 7/18 - 2
19-11221444-G-A c.1057G>A p.E353K Missense 7/18 - 2
19-11221449-T-G c.1060+2T>G - IntronicSNV - 7/17 1
19-11221454-T-C c.1060+7T>C - IntronicSNV - 7/17 6
19-11221457-G-A c.1060+10G>A - IntronicSNV - 7/17 4
19-11221457-G-C c.1060+10G>C - IntronicSNV - 7/17 5
19-11221471-C-A c.1060+24C>A - IntronicSNV - 7/17 1
19-11221473-T-G c.1060+26T>G - IntronicSNV - 7/17 1
19-11221951-A-G c.1061-239A>G - IntronicSNV - 7/17 1
19-11222182-T-A c.1061-8T>A - IntronicSNV - 7/17 3
19-11222182-T-C c.1061-8T>C - IntronicSNV - 7/17 3
19-11222190-A-C c.1061A>C p.D354A Missense 8/18 - 3
19-11222190-A-G c.1061A>G p.D354G Missense 8/18 - 3
19-11222190-A-T c.1061A>T p.D354V Missense 8/18 - 1
19-11222190-A-AT c.1062dup p.I355Yfs*3 SpliceAcceptorInsertion 8/18 - 1
19-11222194-C-G c.1065C>G p.I355M Missense 8/18 - 1
19-11222194-C-T c.1065C>T p.I355= Synonymous 8/18 - 1
19-11222195-G-C c.1066G>C p.D356H Missense 8/18 - 1
19-11222195-G-T c.1066G>T p.D356Y Missense 8/18 - 1
19-11222196-A-C c.1067A>C p.D356A Missense 8/18 - 1
19-11222196-A-T c.1067A>T p.D356V Missense 8/18 - 3
19-11222198-G-A c.1069G>A p.E357K Missense 8/18 - 1
19-11222198-G-T c.1069G>T p.E357* Nonsense 8/18 - 2
19-11222199-GA-G c.1070del p.E357Gfs*13 Frameshift 8/18 - 2
19-11222201-T-C c.1072T>C p.C358R Missense 8/18 - 1
19-11222207-G-C c.1078G>C p.D360H Missense 8/18 - 1
19-11222210-C-T c.1081C>T p.P361S Missense 8/18 - 1
19-11222214-A-C c.1085A>C p.D362A Missense 8/18 - 4
19-11222214-A-T c.1085A>T p.D362V Missense 8/18 - 1
19-11222214-GA-G c.1085del p.D362Afs*8 Frameshift 8/18 - 1
19-11222219-T-C c.1090T>C p.C364R Missense 8/18 - 4
19-11222231-T-C c.1102T>C p.C368R Missense 8/18 - 2
19-11222231-T-G c.1102T>G p.C368G Missense 8/18 - 1
19-11222232-G-A c.1103G>A p.C368Y Missense 8/18 - 1
19-11222232-G-C c.1103G>C p.C368S Missense 8/18 - 1
19-11222238-A-G c.1109A>G p.N370S Missense 8/18 - 8
19-11222246-G-T c.1117G>T p.G373C Missense 8/18 - 1
19-11222244-A-AGGGT c.1118_1121dup p.Y375Wfs*7 Frameshift 8/18 - 1
19-11222244-AG-A c.1118del p.G373Vfs*40 Frameshift 8/18 - 1
19-11222247-G-A c.1118G>A p.G373D Missense 8/18 - 2
19-11222249-G-A c.1120G>A p.G374S Missense 8/18 - 2
19-11222249-G-T c.1120G>T p.G374C Missense 8/18 - 1
19-11222252-T-G c.1123T>G p.Y375D Missense 8/18 - 2
19-11222252-T-TGA c.1123_1124insGA p.Y375* Nonsense 8/18 - 1
19-11222253-A-G c.1124A>G p.Y375C Missense 8/18 - 3
19-11222257-G-GT c.1129dup p.C377Lfs*4 Frameshift 8/18 - 2
19-11222258-T-G c.1129T>G p.C377G Missense 8/18 - 2
19-11222259-G-A c.1130G>A p.C377Y Missense 8/18 - 4
19-11222259-G-C c.1130G>C p.C377S Missense 8/18 - 1
19-11222259-G-T c.1130G>T p.C377F Missense 8/18 - 2
19-11222261-C-T c.1132C>T p.Q378* Nonsense 8/18 - 1
19-11222262-A-C c.1133A>C p.Q378P Missense 8/18 - 2
19-11222264-T-C c.1135T>C p.C379R Missense 8/18 - 5
19-11222265-G-A c.1136G>A p.C379Y Missense 8/18 - 1
19-11222268-A-C c.1139A>C p.E380A Missense 8/18 - 2
19-11222274-G-A c.1145G>A p.G382D Missense 8/18 - 1
19-11222276-T-G c.1147T>G p.F383V Missense 8/18 - 1
19-11222279-C-T c.1150C>T p.Q384* Nonsense 8/18 - 1
19-11222280-A-C c.1151A>C p.Q384P Missense 8/18 - 1
19-11222282-C-G c.1153C>G p.L385V Missense 8/18 - 1
19-11222285-G-T c.1156G>T p.D386Y Missense 8/18 - 1
19-11222287-C-A c.1158C>A p.D386E Missense 8/18 - 1
19-11222287-C-G c.1158C>G p.D386E Missense 8/18 - 1
19-11222295-C-T c.1166C>T p.T389M Missense 8/18 - 1
19-11222296-G-A c.1167G>A p.T389= Synonymous 8/18 - 1
19-11222297-A-G c.1168A>G p.K390E Missense 8/18 - 1
19-11222300-G-A c.1171G>A p.A391T Missense 8/18 - 20
19-11222302-C-CT c.1174dup p.C392Lfs*49 Frameshift 8/18 - 1
19-11222305-C-A c.1176C>A p.C392* Nonsense 8/18 - 1
19-11222305-CA-C c.1178del p.K393Rfs*20 Frameshift 8/18 - 1
19-11222309-GGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCA-G c.1181_1186+53del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 8/18 8/17 1
19-11222312-TG-T c.1183del p.V395Wfs*18 Frameshift 8/18 - 1
19-11222315-G-A c.1186G>A p.G396S Missense 8/18 - 3
19-11222315-G-C c.1186G>C p.G396R Missense 8/18 - 1
19-11222316-G-A c.1186+1G>A - IntronicSNV - 8/17 2
19-11222316-G-T c.1186+1G>T - IntronicSNV - 8/17 2
19-11222317-T-G c.1186+2T>G - IntronicSNV - 8/17 3
19-11222320-G-A c.1186+5G>A - IntronicSNV - 8/17 2
19-11222320-G-C c.1186+5G>C - IntronicSNV - 8/17 1
19-11222356-T-A c.1186+41T>A - IntronicSNV - 8/17 1
19-11223944-G-A c.1187-10G>A - IntronicSNV - 8/17 3
19-11223944-G-C c.1187-10G>C - IntronicSNV - 8/17 3
19-11223954-G-A c.1187G>A p.G396D Missense 9/18 - 1
19-11223954-G-C c.1187G>C p.G396A Missense 9/18 - 2
19-11223961-C-A c.1194C>A p.I398= Synonymous 9/18 - 4
19-11223961-C-T c.1194C>T p.I398= Synonymous 9/18 - 3
19-11223962-G-A c.1195G>A p.A399T Missense 9/18 - 2
19-11223962-G-T c.1195G>T p.A399S Missense 9/18 - 1
19-11223963-C-A c.1196C>A p.A399D Missense 9/18 - 1
19-11223968-C-G c.1201C>G p.L401V Missense 9/18 - 1
19-11223968-C-T c.1201C>T p.L401F Missense 9/18 - 1
19-11223969-T-A c.1202T>A p.L401H Missense 9/18 - 5
19-11223969-T-C c.1202T>C p.L401P Missense 9/18 - 1
19-11223971-T-C c.1204T>C p.F402L Missense 9/18 - 1
19-11223973-TC-T c.1206del p.F403Sfs*10 Frameshift 9/18 - 2
19-11223968-CTCT-C c.1207_1209del p.F403del InFrameDeletion 9/18 - 1
19-11223974-T-C c.1207T>C p.F403L Missense 9/18 - 2
19-11223978-C-T c.1211C>T p.T404I Missense 9/18 - 2
19-11223981-A-C c.1214A>C p.N405T Missense 9/18 - 1
19-11223983-C-A c.1216C>A p.R406= Synonymous 9/18 - 7
19-11223983-C-T c.1216C>T p.R406W Missense 9/18 - 16
19-11223984-G-A c.1217G>A p.R406Q Missense 9/18 - 2
19-11223984-G-C c.1217G>C p.R406P Missense 9/18 - 1
19-11223984-GG-AT c.1217_1218delinsAT p.R406H Missense 9/18 - 2
19-11223989-G-A c.1222G>A p.E408K Missense 9/18 - 9
19-11223989-G-C c.1222G>C p.E408Q Missense 9/18 - 2
19-11223990-A-C c.1223A>C p.E408A Missense 9/18 - 2
19-11223990-A-T c.1223A>T p.E408V Missense 9/18 - 2
19-11223995-A-G c.1228A>G p.R410G Missense 9/18 - 2
19-11223995-AG-GA c.1228_1229delinsGA p.R410E Missense 9/18 - 1
19-11223995-AG-GC c.1228_1229delinsGC p.R410A Missense 9/18 - 2
19-11223996-G-A c.1229G>A p.R410K Missense 9/18 - 1
19-11223997-G-C c.1230G>C p.R410S Missense 9/18 - 8
19-11223997-G-T c.1230G>T p.R410S Missense 9/18 - 8
19-11224001-A-G c.1234A>G p.M412V Missense 9/18 - 1
19-11224002-T-C c.1235T>C p.M412T Missense 9/18 - 1
19-11224005-C-T c.1238C>T p.T413M Missense 9/18 - 5
19-11224008-T-C c.1241T>C p.L414P Missense 9/18 - 1
19-11224008-T-G c.1241T>G p.L414R Missense 9/18 - 7
19-11224013-C-T c.1246C>T p.R416W Missense 9/18 - 24
19-11224014-G-A c.1247G>A p.R416Q Missense 9/18 - 1
19-11224014-G-C c.1247G>C p.R416P Missense 9/18 - 1
19-11224014-G-T c.1247G>T p.R416L Missense 9/18 - 3
19-11224019-G-A c.1252G>A p.E418K Missense 9/18 - 7
19-11224019-G-T c.1252G>T p.E418* Nonsense 9/18 - 3
19-11224020-A-G c.1253A>G p.E418G Missense 9/18 - 1
19-11224022-T-G c.1255T>G p.Y419D Missense 9/18 - 2
19-11224023-A-T c.1256A>T p.Y419F Missense 9/18 - 1
19-11224024-C-A c.1257C>A p.Y419* Nonsense 9/18 - 3
19-11224024-C-G c.1257C>G p.Y419* Nonsense 9/18 - 4
19-11224024-C-T c.1257C>T p.Y419= Synonymous 9/18 - 1
19-11224028-A-G c.1261A>G p.S421G Missense 9/18 - 1
19-11224028-A-C c.1261A>C p.S421R Missense 9/18 - 1
19-11224030-C-A c.1263C>A p.S421R Missense 9/18 - 2
19-11224030-C-G c.1263C>G p.S421R Missense 9/18 - 1
19-11224031-C-G c.1264C>G p.L422V Missense 9/18 - 1
19-11224032-T-G c.1265T>G p.L422R Missense 9/18 - 1
19-11224035-T-C c.1268T>C p.I423T Missense 9/18 - 3
19-11224041-A-G c.1274A>G p.N425S Missense 9/18 - 5
19-11224044-T-C c.1277T>C p.L426P Missense 9/18 - 2
19-11224046-AG-GC c.1279_1280delinsGC p.R427A Missense 9/18 - 1
19-11224050-A-G c.1283A>G p.N428S Missense 9/18 - 1
19-11224051-C-A c.1284C>A p.N428K Missense 9/18 - 1
19-11224051-C-G c.1284C>G p.N428K Missense 9/18 - 2
19-11224052-G-A c.1285G>A p.V429M Missense 9/18 - 21
19-11224052-G-C c.1285G>C p.V429L Missense 9/18 - 8
19-11224052-G-T c.1285G>T p.V429L Missense 9/18 - 4
19-11224055-G-C c.1288G>C p.V430L Missense 9/18 - 1
19-11224052-GTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC-G c.1291_1331del p.A431* Frameshift 9/18 - 1
19-11224058-G-A c.1291G>A p.A431T Missense 9/18 - 5
19-11224058-G-C c.1291G>C p.A431P Missense 9/18 - 1
19-11224058-G-T c.1291G>T p.A431S Missense 9/18 - 1
19-11224059-C-T c.1292C>T p.A431V Missense 9/18 - 1
19-11224061-C-G c.1294C>G p.L432V Missense 9/18 - 2
19-11224062-T-G c.1295T>G p.L432R Missense 9/18 - 1
19-11224064-GA-AG c.1297_1298delinsAG p.D433S Missense 9/18 - 1
19-11224064-G-C c.1297G>C p.D433H Missense 9/18 - 6
19-11224064-G-T c.1297G>T p.D433Y Missense 9/18 - 1
19-11224066-C-G c.1299C>G p.D433E Missense 9/18 - 2
19-11224068-C-A c.1301C>A p.T434K Missense 9/18 - 1
19-11224068-C-G c.1301C>G p.T434R Missense 9/18 - 2
19-11224068-C-T c.1301C>T p.T434M Missense 9/18 - 1
19-11224068-CG-C c.1303del p.E435Rfs*16 Frameshift 9/18 - 1
19-11224071-A-G c.1304A>G p.E435G Missense 9/18 - 1
19-11224073-G-A c.1306G>A p.V436M Missense 9/18 - 1
19-11224074-T-C c.1307T>C p.V436A Missense 9/18 - 1
19-11224084-T-A c.1317T>A p.N439K Missense 9/18 - 1
19-11224084-T-G c.1317T>G p.N439K Missense 9/18 - 1
19-11224089-T-A c.1322T>A p.I441N Missense 9/18 - 1
19-11224089-T-C c.1322T>C p.I441T Missense 9/18 - 4
19-11224090-C-G c.1323C>G p.I441M Missense 9/18 - 1
19-11224090-C-T c.1323C>T p.I441= Synonymous 9/18 - 1
19-11224094-T-C c.1327T>C p.W443R Missense 9/18 - 4
19-11224095-G-A c.1328G>A p.W443* Nonsense 9/18 - 1
19-11224095-G-C c.1328G>C p.W443S Missense 9/18 - 1
19-11224094-TG-T c.1329del p.W443Cfs*8 Frameshift 9/18 - 1
19-11224096-G-A c.1329G>A p.W443* Nonsense 9/18 - 1
19-11224096-G-C c.1329G>C p.W443C Missense 9/18 - 1
19-11224096-G-T c.1329G>T p.W443C Missense 9/18 - 1
19-11224098-C-CT c.1332dup p.D445* Nonsense 9/18 - 5
19-11224102-C-A c.1335C>A p.D445E Missense 9/18 - 2
19-11224102-C-G c.1335C>G p.D445E Missense 9/18 - 1
19-11224103-C-G c.1336C>G p.L446V Missense 9/18 - 2
19-11224104-T-C c.1337T>C p.L446P Missense 9/18 - 1
19-11224106-T-A c.1339T>A p.S447T Missense 9/18 - 1
19-11224106-T-C c.1339T>C p.S447P Missense 9/18 - 2
19-11224107-CC-AA c.1340_1341delinsAA p.S447* Nonsense 9/18 - 25
19-11224107-C-G c.1340C>G p.S447C Missense 9/18 - 3
19-11224108-C-A c.1341C>A p.S447= Synonymous 9/18 - 1
19-11224108-C-G c.1341C>G p.S447= Synonymous 9/18 - 1
19-11224108-C-T c.1341C>T p.S447= Synonymous 9/18 - 1
19-11224109-C-T c.1342C>T p.Q448* Nonsense 9/18 - 4
19-11224110-CA-C c.1343del p.Q448Rfs*3 Frameshift 9/18 - 1
19-11224112-A-G c.1345A>G p.R449G Missense 9/18 - 1
19-11224119-T-C c.1352T>C p.I451T Missense 9/18 - 3
19-11224126-G-A c.1358+1G>A - IntronicSNV - 9/17 1
19-11224126-G-T c.1358+1G>T - IntronicSNV - 9/17 1
19-11224127-T-A c.1358+2T>A - IntronicSNV - 9/17 1
19-11224127-T-C c.1358+2T>C - IntronicSNV - 9/17 1
19-11224125-GGTGAGC-G c.1358+3_1358+8del - IntronicDeletion - 9/17 1
19-11224156-C-T c.1358+31C>T - IntronicSNV - 9/17 1
19-11224157-C-T c.1358+32C>T - IntronicSNV - 9/17 1
19-11224181-C-A c.1359-30C>A - IntronicSNV - 9/17 13
19-11224181-C-T c.1359-30C>T - IntronicSNV - 9/17 13
19-11224212-AC-TG c.1360_1361delinsTG p.T454C Missense 10/18 - 1
19-11224212-CA-C c.1360del p.T454Pfs*53 Frameshift 10/18 - 1
19-11224213-C-A c.1361C>A p.T454N Missense 10/18 - 3
19-11224212-AC-A c.1363del p.Q455Sfs*52 Frameshift 10/18 - 1
19-11224219-T-C c.1367T>C p.L456P Missense 10/18 - 1
19-11224224-AG-GC c.1372_1373delinsGC p.R458A Missense 10/18 - 1
19-11224228-C-T c.1376C>T p.A459V Missense 10/18 - 1
19-11224230-CA-GC c.1378_1379delinsGC p.H460A Missense 10/18 - 1
19-11224231-A-T c.1379A>T p.H460L Missense 10/18 - 1
19-11224233-G-A c.1381G>A p.G461S Missense 10/18 - 2
19-11224233-G-T c.1381G>T p.G461C Missense 10/18 - 1
19-11224236-G-A c.1384G>A p.V462I Missense 10/18 - 1
19-11224239-CT-C c.1387del p.S463Lfs*44 Frameshift 10/18 - 1
19-11224242-TC-AA c.1390_1391delinsAA p.S464N Missense 10/18 - 1
19-11224247-T-G c.1395T>G p.Y465* Nonsense 10/18 - 1
19-11224263-A-G c.1411A>G p.R471G Missense 10/18 - 2
19-11224263-A-T c.1411A>T p.R471* Nonsense 10/18 - 1
19-11224263-A-C c.1411A>C p.R471= Synonymous 10/18 - 3
19-11224265-A-G c.1413A>G p.R471= Synonymous 10/18 - 30
19-11224266-G-A c.1414G>A p.D472N Missense 10/18 - 2
19-11224266-G-T c.1414G>T p.D472Y Missense 10/18 - 4
19-11224270-T-A c.1418T>A p.I473N Missense 10/18 - 2
19-11224272-C-T c.1420C>T p.Q474* Nonsense 10/18 - 1
19-11224276-C-T c.1424C>T p.A475V Missense 10/18 - 3
19-11224279-C-G c.1427C>G p.P476R Missense 10/18 - 1
19-11224279-C-T c.1427C>T p.P476L Missense 10/18 - 2
19-11224281-G-A c.1429G>A p.D477N Missense 10/18 - 2
19-11224281-G-C c.1429G>C p.D477H Missense 10/18 - 1
19-11224284-G-A c.1432G>A p.G478R Missense 10/18 - 8
19-11224284-G-C c.1432G>C p.G478R Missense 10/18 - 1
19-11224285-G-A c.1433G>A p.G478E Missense 10/18 - 1
19-11224283-CG-C c.1434del p.L479Wfs*28 Frameshift 10/18 - 1
19-11224288-T-A c.1436T>A p.L479Q Missense 10/18 - 2
19-11224288-T-C c.1436T>C p.L479P Missense 10/18 - 4
19-11224290-G-A c.1438G>A p.A480T Missense 10/18 - 1
19-11224291-C-T c.1439C>T p.A480V Missense 10/18 - 3
19-11224296-G-A c.1444G>A p.D482N Missense 10/18 - 7
19-11224296-G-C c.1444G>C p.D482H Missense 10/18 - 4
19-11224296-G-T c.1444G>T p.D482Y Missense 10/18 - 2
19-11224297-A-G c.1445A>G p.D482G Missense 10/18 - 1
19-11224299-T-A c.1447T>A p.W483R Missense 10/18 - 1
19-11224299-T-C c.1447T>C p.W483R Missense 10/18 - 1
19-11224299-T-G c.1447T>G p.W483G Missense 10/18 - 1
19-11224300-G-A c.1448G>A p.W483* Nonsense 10/18 - 15
19-11224300-G-T c.1448G>T p.W483L Missense 10/18 - 1
19-11224301-G-A c.1449G>A p.W483* Nonsense 10/18 - 3
19-11224312-A-G c.1460A>G p.N487S Missense 10/18 - 1
19-11224315-T-C c.1463T>C p.I488T Missense 10/18 - 1
19-11224317-T-A c.1465T>A p.Y489N Missense 10/18 - 2
19-11224317-TA-GC c.1465_1466delinsGC p.Y489A Missense 10/18 - 1
19-11224318-A-G c.1466A>G p.Y489C Missense 10/18 - 1
19-11224319-C-G c.1467C>G p.Y489* Nonsense 10/18 - 1
19-11224320-T-C c.1468T>C p.W490R Missense 10/18 - 5
19-11224320-T-G c.1468T>G p.W490G Missense 10/18 - 1
19-11224321-G-A c.1469G>A p.W490* Nonsense 10/18 - 2
19-11224322-G-C c.1470G>C p.W490C Missense 10/18 - 1
19-11224322-G-T c.1470G>T p.W490C Missense 10/18 - 1
19-11224323-A-G c.1471A>G p.T491A Missense 10/18 - 1
19-11224326-CG-C c.1474del p.D492Tfs*15 Frameshift 10/18 - 1
19-11224326-G-A c.1474G>A p.D492N Missense 10/18 - 15
19-11224326-G-C c.1474G>C p.D492H Missense 10/18 - 2
19-11224327-ACT-A c.1478_1479del p.S493Cfs*42 Frameshift 10/18 - 4
19-11224335-C-T c.1483C>T p.L495= Synonymous 10/18 - 1
19-11224338-GGGC-G c.1486_1488del p.G496del InFrameDeletion 10/18 - 1
19-11224339-G-A c.1487G>A p.G496D Missense 10/18 - 1
19-11224339-G-T c.1487G>T p.G496V Missense 10/18 - 1
19-11224347-T-C c.1495T>C p.S499P Missense 10/18 - 1
19-11224344-GTC-G c.1496_1497del p.S499Cfs*36 Frameshift 10/18 - 1
19-11224354-C-A c.1502C>A p.A501E Missense 10/18 - 1
19-11224354-C-T c.1502C>T p.A501V Missense 10/18 - 4
19-11224355-G-A c.1503G>A p.A501= Synonymous 10/18 - 1
19-11224362-A-G c.1510A>G p.K504E Missense 10/18 - 1
19-11224363-AG-A c.1514del p.G505Afs*2 Frameshift 10/18 - 1
19-11224366-G-A c.1514G>A p.G505D Missense 10/18 - 1
19-11224367-C-CG c.1516dup p.V506Gfs*30 Frameshift 10/18 - 1
19-11224368-G-A c.1516G>A p.V506M Missense 10/18 - 1
19-11224371-A-G c.1519A>G p.K507E Missense 10/18 - 2
19-11224377-A-G c.1525A>G p.K509E Missense 10/18 - 2
19-11224381-C-T c.1529C>T p.T510M Missense 10/18 - 2
19-11224382-CGTT-C c.1530_1532del p.L511del InFrameDeletion 10/18 - 1
19-11224384-T-C c.1532T>C p.L511S Missense 10/18 - 1
19-11224389-AG-A c.1540del p.E514Rfs*34 Frameshift 10/18 - 1
19-11224396-A-G c.1544A>G p.N515S Missense 10/18 - 1
19-11224397-C-T c.1545C>T p.N515= Synonymous 10/18 - 1
19-11224398-G-A c.1546G>A p.G516S Missense 10/18 - 2
19-11224399-G-T c.1547G>T p.G516V Missense 10/18 - 1
19-11224398-GGCTCCAA-G c.1549_1555del p.S517Qfs*29 Frameshift 10/18 - 1
19-11224402-C-T c.1550C>T p.S517F Missense 10/18 - 1
19-11224404-A-G c.1552A>G p.K518E Missense 10/18 - 1
19-11224405-A-G c.1553A>G p.K518R Missense 10/18 - 1
19-11224407-C-T c.1555C>T p.P519S Missense 10/18 - 1
19-11224413-G-A c.1561G>A p.A521T Missense 10/18 - 1
19-11224413-G-C c.1561G>C p.A521P Missense 10/18 - 4
19-11224416-A-C c.1564A>C p.I522L Missense 10/18 - 1
19-11224419-G-A c.1567G>A p.V523M Missense 10/18 - 15
19-11224419-G-C c.1567G>C p.V523L Missense 10/18 - 1
19-11224419-G-T c.1567G>T p.V523L Missense 10/18 - 2
19-11224425-G-T c.1573G>T p.D525Y Missense 10/18 - 1
19-11224427-T-A c.1575T>A p.D525E Missense 10/18 - 1
19-11224427-T-G c.1575T>G p.D525E Missense 10/18 - 1
19-11224428-C-A c.1576C>A p.P526T Missense 10/18 - 2
19-11224428-C-T c.1576C>T p.P526S Missense 10/18 - 3
19-11224429-C-A c.1577C>A p.P526H Missense 10/18 - 2
19-11224429-C-G c.1577C>G p.P526R Missense 10/18 - 1
19-11224438-G-A c.1586G>A p.G529D Missense 10/18 - 1
19-11224439-G-A c.1586+1G>A - IntronicSNV - 10/17 2
19-11224443-G-A c.1586+5G>A - IntronicSNV - 10/17 4
19-11224443-G-C c.1586+5G>C - IntronicSNV - 10/17 2
19-11224491-A-G c.1586+53A>G - IntronicSNV - 10/17 2
19-11224931-C-T c.1586+493C>T - IntronicSNV - 10/17 2
19-11226543-A-G c.1587-227A>G - IntronicSNV - 10/17 1
19-11226771-T-G c.1588T>G p.F530V Missense 11/18 - 1
19-11226775-T-A c.1592T>A p.M531K Missense 11/18 - 4
19-11226775-T-C c.1592T>C p.M531T Missense 11/18 - 1
19-11226775-T-G c.1592T>G p.M531R Missense 11/18 - 2
19-11226778-A-G c.1595A>G p.Y532C Missense 11/18 - 1
19-11226780-T-C c.1597T>C p.W533R Missense 11/18 - 4
19-11226781-G-A c.1598G>A p.W533* Nonsense 11/18 - 2
19-11226782-G-A c.1599G>A p.W533* Nonsense 11/18 - 4
19-11226784-C-A c.1601C>A p.T534N Missense 11/18 - 1
19-11226785-T-A c.1602T>A p.T534= Synonymous 11/18 - 1
19-11226785-T-C c.1602T>C p.T534= Synonymous 11/18 - 1
19-11226785-T-G c.1602T>G p.T534= Synonymous 11/18 - 1
19-11226786-G-A c.1603G>A p.D535N Missense 11/18 - 2
19-11226789-T-G c.1606T>G p.W536G Missense 11/18 - 1
19-11226792-G-T c.1609G>T p.G537* Nonsense 11/18 - 1
19-11226789-TG-T c.1610del p.G537Efs*11 Frameshift 11/18 - 2
19-11226800-C-A c.1617C>A p.P539= Synonymous 11/18 - 3
19-11226800-C-G c.1617C>G p.P539= Synonymous 11/18 - 3
19-11226800-C-T c.1617C>T p.P539= Synonymous 11/18 - 10
19-11226801-G-A c.1618G>A p.A540T Missense 11/18 - 11
19-11226801-G-T c.1618G>T p.A540S Missense 11/18 - 1
19-11226810-AAGAAAGGGGGCCTGAATGGTGTGG-A c.1629_1652del p.K543_D551delinsN MultiAAMissense 11/18 - 1
19-11226813-A-C c.1630A>C p.K544Q Missense 11/18 - 1
19-11226812-GA-G c.1632del p.G546Afs*2 Frameshift 11/18 - 1
19-11226816-G-A c.1633G>A p.G545R Missense 11/18 - 3
19-11226816-G-C c.1633G>C p.G545R Missense 11/18 - 2
19-11226816-G-T c.1633G>T p.G545W Missense 11/18 - 2
19-11226817-G-A c.1634G>A p.G545E Missense 11/18 - 5
19-11226817-G-C c.1634G>C p.G545A Missense 11/18 - 1
19-11226815-AG-A c.1637del p.G546Afs*2 Frameshift 11/18 - 2
19-11226820-G-A c.1637G>A p.G546D Missense 11/18 - 6
19-11226820-G-T c.1637G>T p.G546V Missense 11/18 - 2
19-11226822-C-G c.1639C>G p.L547V Missense 11/18 - 3
19-11226822-CT-TA c.1639_1640delinsTA p.L547* Nonsense 11/18 - 1
19-11226827-T-G c.1644T>G p.N548K Missense 11/18 - 1
19-11226829-G-A c.1646G>A p.G549D Missense 11/18 - 17
19-11226829-G-T c.1646G>T p.G549V Missense 11/18 - 2
19-11226833-GGACATCTACTC-G c.1652_1662del p.D551Afs*4 Frameshift 11/18 - 1
19-11226838-AT-A c.1655del p.I552Tfs*5 Frameshift 11/18 - 1
19-11226838-ATCTACTCGCTGGTGACTG-A c.1655_1672del p.I552_E558delinsK MultiAAMissense 11/18 - 1
19-11226844-C-T c.1661C>T p.S554L Missense 11/18 - 4
19-11226847-T-C c.1664T>C p.L555P Missense 11/18 - 2
19-11226853-C-G c.1670C>G p.T557S Missense 11/18 - 2
19-11226855-G-A c.1672G>A p.E558K Missense 11/18 - 1
19-11226855-G-T c.1672G>T p.E558* Nonsense 11/18 - 2
19-11226861-A-T c.1678A>T p.I560F Missense 11/18 - 1
19-11226864-CAGTGGCCCA-C c.1683_1691del p.Q561_N564delinsH MultiAAMissense 11/18 - 1
19-11226868-G-A c.1685G>A p.W562* Nonsense 11/18 - 2
19-11226869-GCCCAATG-T c.1686_1693delinsT p.W562Cfs*5 Frameshift 11/18 - 1
19-11226870-C-T c.1687C>T p.P563S Missense 11/18 - 1
19-11226866-GTGGCCCAA-G c.1688_1695del p.P563Hfs*14 Frameshift 11/18 - 1
19-11226871-C-G c.1688C>G p.P563R Missense 11/18 - 1
19-11226873-A-C c.1690A>C p.N564H Missense 11/18 - 7
19-11226873-A-G c.1690A>G p.N564D Missense 11/18 - 1
19-11226874-A-G c.1691A>G p.N564S Missense 11/18 - 10
19-11226876-G-A c.1693G>A p.G565S Missense 11/18 - 1
19-11226876-G-C c.1693G>C p.G565R Missense 11/18 - 1
19-11226877-G-A c.1694G>A p.G565D Missense 11/18 - 2
19-11226877-G-C c.1694G>C p.G565A Missense 11/18 - 2
19-11226877-G-T c.1694G>T p.G565V Missense 11/18 - 6
19-11226879-A-T c.1696A>T p.I566F Missense 11/18 - 1
19-11226885-C-G c.1702C>G p.L568V Missense 11/18 - 7
19-11226888-G-T c.1705G>T p.D569Y Missense 11/18 - 1
19-11226889-G-C c.1705+1G>C - IntronicSNV - 11/17 1
19-11226944-C-T c.1705+56C>T - IntronicSNV - 11/17 2
19-11227000-C-G c.1705+112C>G - IntronicSNV - 11/17 1
19-11227005-T-G c.1705+117T>G - IntronicSNV - 11/17 1
19-11227070-C-T c.1705+182C>T - IntronicSNV - 11/17 1
19-11227326-C-A c.1706-209C>A - IntronicSNV - 11/17 10
19-11227326-C-G c.1706-209C>G - IntronicSNV - 11/17 10
19-11227466-G-A c.1706-69G>A - IntronicSNV - 11/17 2
19-11227466-G-T c.1706-69G>T - IntronicSNV - 11/17 2
19-11227480-A-C c.1706-55A>C - IntronicSNV - 11/17 6
19-11227525-G-A c.1706-10G>A - IntronicSNV - 11/17 5
19-11227534-G-A c.1706-1G>A - IntronicSNV - 11/17 1
19-11227534-G-C c.1706-1G>C - IntronicSNV - 11/17 1
19-11227534-G-T c.1706-1G>T - IntronicSNV - 11/17 1
19-11227535-A-G c.1706A>G p.D569G Missense 12/18 - 1
19-11227535-A-T c.1706A>T p.D569V Missense 12/18 - 1
19-11227536-TCTC-T c.1711_1713del p.L571del InFrameDeletion 12/18 - 1
19-11227545-TG-T c.1718del p.G573Afs*92 Frameshift 12/18 - 1
19-11227549-C-A c.1720C>A p.R574S Missense 12/18 - 3
19-11227549-C-T c.1720C>T p.R574C Missense 12/18 - 2
19-11227550-G-A c.1721G>A p.R574H Missense 12/18 - 6
19-11227550-G-T c.1721G>T p.R574L Missense 12/18 - 3
19-11227552-C-T c.1723C>T p.L575F Missense 12/18 - 5
19-11227554-C-A c.1725C>A p.L575= Synonymous 12/18 - 2
19-11227554-C-G c.1725C>G p.L575= Synonymous 12/18 - 2
19-11227554-C-T c.1725C>T p.L575= Synonymous 12/18 - 13
19-11227556-A-C c.1727A>C p.Y576S Missense 12/18 - 2
19-11227556-A-G c.1727A>G p.Y576C Missense 12/18 - 1
19-11227558-T-C c.1729T>C p.W577R Missense 12/18 - 6
19-11227558-T-G c.1729T>G p.W577G Missense 12/18 - 2
19-11227555-TACTGGGTTG-T c.1730_1738del p.W577_D579del InFrameDeletion 12/18 - 1
19-11227559-G-A c.1730G>A p.W577* Nonsense 12/18 - 3
19-11227559-G-C c.1730G>C p.W577S Missense 12/18 - 2
19-11227560-G-A c.1731G>A p.W577* Nonsense 12/18 - 3
19-11227560-G-C c.1731G>C p.W577C Missense 12/18 - 2
19-11227560-G-T c.1731G>T p.W577C Missense 12/18 - 5
19-11227561-G-A c.1732G>A p.V578I Missense 12/18 - 2
19-11227561-G-T c.1732G>T p.V578F Missense 12/18 - 1
19-11227562-T-C c.1733T>C p.V578A Missense 12/18 - 5
19-11227564-G-A c.1735G>A p.D579N Missense 12/18 - 2
19-11227565-A-G c.1736A>G p.D579G Missense 12/18 - 2
19-11227566-AC-A c.1737del p.S580Pfs*85 Frameshift 12/18 - 1
19-11227568-C-T c.1739C>T p.S580F Missense 12/18 - 3
19-11227570-A-C c.1741A>C p.K581Q Missense 12/18 - 2
19-11227573-C-T c.1744C>T p.L582F Missense 12/18 - 4
19-11227574-T-C c.1745T>C p.L582P Missense 12/18 - 3
19-11227576-C-G c.1747C>G p.H583D Missense 12/18 - 3
19-11227576-C-T c.1747C>T p.H583Y Missense 12/18 - 24
19-11227577-A-G c.1748A>G p.H583R Missense 12/18 - 1
19-11227575-TCACTC-T c.1749_1753del p.S584Lfs*17 Frameshift 12/18 - 1
19-11227579-T-C c.1750T>C p.S584P Missense 12/18 - 3
19-11227582-A-C c.1753A>C p.I585L Missense 12/18 - 1
19-11227583-T-C c.1754T>C p.I585T Missense 12/18 - 2
19-11227585-T-C c.1756T>C p.S586P Missense 12/18 - 2
19-11227586-C-A c.1757C>A p.S586* Nonsense 12/18 - 3
19-11227594-G-A c.1765G>A p.D589N Missense 12/18 - 6
19-11227594-G-T c.1765G>T p.D589Y Missense 12/18 - 1
19-11227602-C-T c.1773C>T p.N591= Synonymous 12/18 - 95
19-11227603-G-A c.1774G>A p.G592R Missense 12/18 - 1
19-11227603-G-C c.1774G>C p.G592R Missense 12/18 - 1
19-11227603-G-T c.1774G>T p.G592W Missense 12/18 - 1
19-11227604-G-A c.1775G>A p.G592E Missense 12/18 - 30
19-11227604-G-C c.1775G>C p.G592A Missense 12/18 - 1
19-11227604-GG-AC c.1775_1776delinsAC p.G592D Missense 12/18 - 1
19-11227602-CGGG-C c.1776_1778del p.G593del InFrameDeletion 12/18 - 1
19-11227602-C-CG c.1778dup p.N594Qfs*9 Frameshift 12/18 - 1
19-11227602-CG-C c.1778del p.G593Afs*72 Frameshift 12/18 - 1
19-11227612-C-T c.1783C>T p.R595W Missense 12/18 - 7
19-11227613-G-A c.1784G>A p.R595Q Missense 12/18 - 4
19-11227615-A-G c.1786A>G p.K596E Missense 12/18 - 1
19-11227622-T-C c.1793T>C p.I598T Missense 12/18 - 1
19-11227624-T-G c.1795T>G p.L599V Missense 12/18 - 1
19-11227625-T-C c.1796T>C p.L599S Missense 12/18 - 2
19-11227625-T-G c.1796T>G p.L599W Missense 12/18 - 1
19-11227630-G-A c.1801G>A p.D601N Missense 12/18 - 1
19-11227630-G-C c.1801G>C p.D601H Missense 12/18 - 3
19-11227630-G-T c.1801G>T p.D601Y Missense 12/18 - 4
19-11227631-A-T c.1802A>T p.D601V Missense 12/18 - 1
19-11227636-A-T c.1807A>T p.K603* Nonsense 12/18 - 1
19-11227642-C-G c.1813C>G p.L605V Missense 12/18 - 1
19-11227642-C-T c.1813C>T p.L605= Synonymous 12/18 - 5
19-11227643-T-G c.1814T>G p.L605R Missense 12/18 - 1
19-11227645-G-A c.1816G>A p.A606T Missense 12/18 - 4
19-11227645-G-T c.1816G>T p.A606S Missense 12/18 - 4
19-11227646-C-A c.1817C>A p.A606D Missense 12/18 - 1
19-11227651-C-A c.1822C>A p.P608T Missense 12/18 - 1
19-11227652-C-T c.1823C>T p.P608L Missense 12/18 - 2
19-11227653-C-T c.1824C>T p.P608= Synonymous 12/18 - 1
19-11227655-TCTC-T c.1829_1831del p.S610del InFrameDeletion 12/18 - 1
19-11227658-C-G c.1829C>G p.S610C Missense 12/18 - 1
19-11227662-G-C c.1833G>C p.L611F Missense 12/18 - 1
19-11227662-G-T c.1833G>T p.L611F Missense 12/18 - 1
19-11227663-G-A c.1834G>A p.A612T Missense 12/18 - 1
19-11227664-C-G c.1835C>G p.A612G Missense 12/18 - 1
19-11227664-C-T c.1835C>T p.A612V Missense 12/18 - 1
19-11227665-C-A c.1836C>A p.A612= Synonymous 12/18 - 1
19-11227666-G-A c.1837G>A p.V613I Missense 12/18 - 1
19-11227673-A-G c.1844A>G p.E615G Missense 12/18 - 1
19-11227673-A-T c.1844A>T p.E615V Missense 12/18 - 2
19-11227674-G-A c.1845G>A p.E615= Synonymous 12/18 - 1
19-11227675-G-A c.1845+1G>A - IntronicSNV - 12/17 1
19-11227676-T-C c.1845+2T>C - IntronicSNV - 12/17 2
19-11227685-C-G c.1845+11C>G - IntronicSNV - 12/17 2
19-11227685-C-T c.1845+11C>T - IntronicSNV - 12/17 1
19-11228145-C-T c.1845+471C>T - IntronicSNV - 12/17 1
19-11228145-C-CT c.1845+482dup - IntronicInsertion - 12/17 1
19-11228726-C-G c.1845+1052C>G - IntronicSNV - 12/17 1
19-11229218-A-G c.1845+1544A>G - IntronicSNV - 12/17 2
19-11229968-C-T c.1846-800C>T - IntronicSNV - 12/17 3
19-11230402-G-T c.1846-366G>T - IntronicSNV - 12/17 1
19-11230768-G-A c.1846G>A p.D616N Missense 13/18 - 2
19-11230768-GA-AT c.1846_1847delinsAT p.D616I Missense 13/18 - 1
19-11230771-A-G c.1849A>G p.K617E Missense 13/18 - 1
19-11230775-T-G c.1853T>G p.V618G Missense 13/18 - 1
19-11230777-T-A c.1855T>A p.F619I Missense 13/18 - 1
19-11230777-T-C c.1855T>C p.F619L Missense 13/18 - 1
19-11230777-T-TA c.1855_1856insA p.F619Yfs*26 Frameshift 13/18 - 1
19-11230779-T-A c.1857T>A p.F619L Missense 13/18 - 1
19-11230779-T-G c.1857T>G p.F619L Missense 13/18 - 1
19-11230778-T-C c.1856T>C p.F619S Missense 13/18 - 1
19-11230781-G-C c.1859G>C p.W620S Missense 13/18 - 2
19-11230782-G-A c.1860G>A p.W620* Nonsense 13/18 - 2
19-11230782-G-C c.1860G>C p.W620C Missense 13/18 - 1
19-11230782-G-T c.1860G>T p.W620C Missense 13/18 - 2
19-11230786-G-A c.1864G>A p.D622N Missense 13/18 - 1
19-11230786-G-T c.1864G>T p.D622Y Missense 13/18 - 5
19-11230787-A-G c.1865A>G p.D622G Missense 13/18 - 3
19-11230788-T-TA c.1867dup p.I623Nfs*22 Frameshift 13/18 - 1
19-11230789-A-G c.1867A>G p.I623V Missense 13/18 - 3
19-11230789-A-T c.1867A>T p.I623F Missense 13/18 - 2
19-11230790-T-A c.1868T>A p.I623N Missense 13/18 - 1
19-11230788-TATC-T c.1871_1873del p.I624del InFrameDeletion 13/18 - 2
19-11230797-C-T c.1875C>T p.N625= Synonymous 13/18 - 1
19-11230798-G-A c.1876G>A p.E626K Missense 13/18 - 3
19-11230799-A-G c.1877A>G p.E626G Missense 13/18 - 1
19-11230798-GA-G c.1878del p.A627Pfs*38 Frameshift 13/18 - 3
19-11230801-AG-A c.1879del p.A627Pfs*38 Frameshift 13/18 - 2
19-11230801-G-A c.1879G>A p.A627T Missense 13/18 - 11
19-11230807-T-G c.1885T>G p.F629V Missense 13/18 - 1
19-11230807-TTCAG-GACCATCAACC c.1885_1889delinsGACCATCAACC p.F629_S630delinsDHQP MultiAAMissense 13/18 - 2
19-11230804-AT-A c.1886del p.F629Sfs*36 Frameshift 13/18 - 1
19-11230816-A-C c.1894A>C p.N632H Missense 13/18 - 1
19-11230817-A-T c.1895A>T p.N632I Missense 13/18 - 1
19-11230819-C-T c.1897C>T p.R633C Missense 13/18 - 8
19-11230820-CG-C c.1898del p.R633Pfs*32 Frameshift 13/18 - 1
19-11230820-G-A c.1898G>A p.R633H Missense 13/18 - 5
19-11230820-G-T c.1898G>T p.R633L Missense 13/18 - 1
19-11230829-G-A c.1907G>A p.G636D Missense 13/18 - 1
19-11230829-G-C c.1907G>C p.G636A Missense 13/18 - 1
19-11230829-G-T c.1907G>T p.G636V Missense 13/18 - 1
19-11230836-T-A c.1914T>A p.D638E Missense 13/18 - 1
19-11230838-T-A c.1916T>A p.V639D Missense 13/18 - 1
19-11230838-T-G c.1916T>G p.V639G Missense 13/18 - 1
19-11230842-C-G c.1920C>G p.N640K Missense 13/18 - 1
19-11230842-C-T c.1920C>T p.N640= Synonymous 13/18 - 3
19-11230847-T-C c.1925T>C p.L642S Missense 13/18 - 2
19-11230846-TTGGCTGAAAACCTAC-T c.1927_1941del p.A643_L647del InFrameDeletion 13/18 - 1
19-11230850-C-T c.1928C>T p.A643V Missense 13/18 - 1
19-11230852-G-GA c.1934dup p.N645Kfs*24 Frameshift 13/18 - 1
19-11230856-A-T c.1934A>T p.N645I Missense 13/18 - 1
19-11230858-C-A c.1936C>A p.L646I Missense 13/18 - 3
19-11230864-T-C c.1942T>C p.S648P Missense 13/18 - 4
19-11230864-T-G c.1942T>G p.S648A Missense 13/18 - 2
19-11230867-C-T c.1945C>T p.P649S Missense 13/18 - 2
19-11230868-C-T c.1946C>T p.P649L Missense 13/18 - 1
19-11230870-AG-A c.1948del p.E650Rfs*15 Frameshift 13/18 - 1
19-11230873-GAT-G c.1954_1955del p.M652Gfs*16 Frameshift 13/18 - 1
19-11230876-A-G c.1954A>G p.M652V Missense 13/18 - 1
19-11230877-T-C c.1955T>C p.M652T Missense 13/18 - 5
19-11230881-T-A c.1959T>A p.V653= Synonymous 13/18 - 9
19-11230881-T-C c.1959T>C p.V653= Synonymous 13/18 - 45
19-11230881-T-G c.1959T>G p.V653= Synonymous 13/18 - 9
19-11230883-T-C c.1961T>C p.L654P Missense 13/18 - 1
19-11230884-CT-C c.1964del p.F655Sfs*10 Frameshift 13/18 - 1
19-11230888-C-A c.1966C>A p.H656N Missense 13/18 - 1
19-11230888-CCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGCCCCACCCCCCCAACCTTGAAA-C c.1967_1987+38del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 13/18 13/17 1
19-11230891-AAC-CAA c.1969_1971delinsCAA p.N657Q Missense 13/18 - 1
19-11230899-C-A c.1977C>A p.T659= Synonymous 13/18 - 2
19-11230899-C-G c.1977C>G p.T659= Synonymous 13/18 - 1
19-11230899-C-T c.1977C>T p.T659= Synonymous 13/18 - 1
19-11230901-A-G c.1979A>G p.Q660R Missense 13/18 - 1
19-11230903-C-A c.1981C>A p.P661T Missense 13/18 - 1
19-11231045-G-A c.1988-1G>A - IntronicSNV - 13/17 1
19-11231045-G-C c.1988-1G>C - IntronicSNV - 13/17 1
19-11231046-G-A c.1988G>A p.G663E Missense 14/18 - 1
19-11231046-G-C c.1988G>C p.G663A Missense 14/18 - 2
19-11231051-AACTGGTGTGAGAGGACC-A c.1996_2012del p.W666Pfs*45 Frameshift 14/18 - 1
19-11231055-G-A c.1997G>A p.W666* Nonsense 14/18 - 2
19-11231056-G-A c.1998G>A p.W666* Nonsense 14/18 - 2
19-11231056-G-C c.1998G>C p.W666C Missense 14/18 - 1
19-11231057-T-A c.1999T>A p.C667S Missense 14/18 - 1
19-11231057-TG-AC c.1999_2000delinsAC p.C667T Missense 14/18 - 4
19-11231058-G-A c.2000G>A p.C667Y Missense 14/18 - 9
19-11231058-G-T c.2000G>T p.C667F Missense 14/18 - 4
19-11231058-TGTG-T c.2000_2002del p.C667_E668delins* MultiAAMissense 14/18 - 2
19-11231055-GGT-G c.2001_2002del p.C667* Frameshift 14/18 - 2
19-11231059-T-G c.2001T>G p.C667W Missense 14/18 - 1
19-11231059-TG-GT c.2001_2002delinsGT p.C667_E668delinsW* MultiAAMissense 14/18 - 1
19-11231069-A-G c.2011A>G p.T671A Missense 14/18 - 1
19-11231079-A-G c.2021A>G p.N674S Missense 14/18 - 1
19-11231079-A-AT c.2022dup p.G675Wfs*42 Frameshift 14/18 - 1
19-11231083-C-A c.2025C>A p.G675= Synonymous 14/18 - 1
19-11231083-C-G c.2025C>G p.G675= Synonymous 14/18 - 1
19-11231083-C-T c.2025C>T p.G675= Synonymous 14/18 - 1
19-11231084-G-A c.2026G>A p.G676S Missense 14/18 - 2
19-11231084-G-C c.2026G>C p.G676R Missense 14/18 - 1
19-11231084-G-T c.2026G>T p.G676C Missense 14/18 - 1
19-11231083-CG-C c.2027del p.G676Afs*33 Frameshift 14/18 - 6
19-11231085-G-C c.2027G>C p.G676A Missense 14/18 - 1
19-11231087-T-C c.2029T>C p.C677R Missense 14/18 - 4
19-11231087-TG-AC c.2029_2030delinsAC p.C677T Missense 14/18 - 25
19-11231088-G-A c.2030G>A p.C677Y Missense 14/18 - 2
19-11231088-TGCCAGTATCTGTG-T c.2030_2042del p.C677Sfs*28 Frameshift 14/18 - 1
19-11231090-C-T c.2032C>T p.Q678* Nonsense 14/18 - 1
19-11231095-T-A c.2037T>A p.Y679* Nonsense 14/18 - 4
19-11231095-T-C c.2037T>C p.Y679= Synonymous 14/18 - 1
19-11231095-T-G c.2037T>G p.Y679* Nonsense 14/18 - 2
19-11231096-C-G c.2038C>G p.L680V Missense 14/18 - 2
19-11231097-T-C c.2039T>C p.L680P Missense 14/18 - 1
19-11231099-T-A c.2041T>A p.C681S Missense 14/18 - 1
19-11231099-T-G c.2041T>G p.C681G Missense 14/18 - 1
19-11231100-G-C c.2042G>C p.C681S Missense 14/18 - 3
19-11231100-G-A c.2042G>A p.C681Y Missense 14/18 - 2
19-11231101-C-A c.2043C>A p.C681* Nonsense 14/18 - 22
19-11231101-C-G c.2043C>G p.C681W Missense 14/18 - 2
19-11231102-C-T c.2044C>T p.L682F Missense 14/18 - 1
19-11231108-G-T c.2050G>T p.A684S Missense 14/18 - 1
19-11231111-C-T c.2053C>T p.P685S Missense 14/18 - 3
19-11231108-GC-G c.2054del p.P685Rfs*24 Frameshift 14/18 - 2
19-11231108-G-GC c.2054dup p.Q686Afs*31 Frameshift 14/18 - 1
19-11231112-C-A c.2054C>A p.P685Q Missense 14/18 - 2
19-11231112-C-T c.2054C>T p.P685L Missense 14/18 - 28
19-11231114-C-T c.2056C>T p.Q686* Nonsense 14/18 - 1
19-11231117-A-T c.2059A>T p.I687F Missense 14/18 - 1
19-11231117-A-AT c.2060dup p.N688Qfs*29 Frameshift 14/18 - 2
19-11231118-T-TC c.2061dup p.N688Qfs*29 Frameshift 14/18 - 2
19-11231121-AC-A c.2068del p.H690Tfs*19 Frameshift 14/18 - 1
19-11231130-C-A c.2072C>A p.S691* Nonsense 14/18 - 2
19-11231130-C-T c.2072C>T p.S691L Missense 14/18 - 2
19-11231132-C-T c.2074C>T p.P692S Missense 14/18 - 1
19-11231133-C-G c.2075C>G p.P692R Missense 14/18 - 1
19-11231142-C-T c.2084C>T p.T695I Missense 14/18 - 1
19-11231146-C-A c.2088C>A p.C696* Nonsense 14/18 - 1
19-11231147-G-A c.2089G>A p.A697T Missense 14/18 - 1
19-11231147-G-C c.2089G>C p.A697P Missense 14/18 - 1
19-11231151-G-A c.2093G>A p.C698Y Missense 14/18 - 2
19-11231151-G-T c.2093G>T p.C698F Missense 14/18 - 1
19-11231152-C-G c.2094C>G p.C698W Missense 14/18 - 1
19-11231151-GC-G c.2096del p.P699Rfs*10 Frameshift 14/18 - 1
19-11231154-C-T c.2096C>T p.P699L Missense 14/18 - 7
19-11231156-G-A c.2098G>A p.D700N Missense 14/18 - 2
19-11231157-A-G c.2099A>G p.D700G Missense 14/18 - 3
19-11231158-C-G c.2100C>G p.D700E Missense 14/18 - 1
19-11231158-CG-C c.2102del p.G701Afs*8 Frameshift 14/18 - 1
19-11231164-G-A c.2106G>A p.M702I Missense 14/18 - 2
19-11231164-G-C c.2106G>C p.M702I Missense 14/18 - 1
19-11231171-G-C c.2113G>C p.A705P Missense 14/18 - 2
19-11231175-G-T c.2117G>T p.R706M Missense 14/18 - 3
19-11231177-G-A c.2119G>A p.D707N Missense 14/18 - 1
19-11231177-G-T c.2119G>T p.D707Y Missense 14/18 - 2
19-11231178-A-C c.2120A>C p.D707A Missense 14/18 - 1
19-11231178-A-T c.2120A>T p.D707V Missense 14/18 - 1
19-11231183-A-T c.2125A>T p.R709W Missense 14/18 - 1
19-11231189-TG-AC c.2131_2132delinsAC p.C711T Missense 14/18 - 2
19-11231190-G-A c.2132G>A p.C711Y Missense 14/18 - 1
19-11231190-G-C c.2132G>C p.C711S Missense 14/18 - 1
19-11231198-G-C c.2140G>C p.E714Q Missense 14/18 - 2
19-11231198-G-T c.2140G>T p.E714* Nonsense 14/18 - 1
19-11231199-G-A c.2140+1G>A - IntronicSNV - 14/17 2
19-11231199-G-C c.2140+1G>C - IntronicSNV - 14/17 1
19-11231199-G-T c.2140+1G>T - IntronicSNV - 14/17 2
19-11231203-G-A c.2140+5G>A - IntronicSNV - 14/17 10
19-11231284-C-G c.2140+86C>G - IntronicSNV - 14/17 1
19-11231301-G-T c.2140+103G>T - IntronicSNV - 14/17 2
19-11233851-G-A c.2142G>A p.E714= Synonymous 15/18 - 1
19-11233854-T-TG c.2146dup p.E716Gfs*66 Frameshift 15/18 - 2
19-11233873-C-T c.2164C>T p.Q722* Nonsense 15/18 - 1
19-11233874-AG-A c.2167del p.E723Rfs*7 Frameshift 15/18 - 1
19-11233876-GA-AG c.2167_2168delinsAG p.E723R Missense 15/18 - 1
19-11233876-G-T c.2167G>T p.E723* Nonsense 15/18 - 2
19-11233886-C-T c.2177C>T p.T726I Missense 15/18 - 12
19-11233892-GGCTAAAGGTCA-G c.2187_2197del p.K730Hfs*48 Frameshift 15/18 - 1
19-11233898-A-C c.2189A>C p.K730T Missense 15/18 - 1
19-11233898-AG-A c.2191del p.V731Sfs*6 Frameshift 15/18 - 1
19-11233909-ACA-TTT c.2200_2202delinsTTT p.T734F Missense 15/18 - 2
19-11233913-C-G c.2204C>G p.A735G Missense 15/18 - 1
19-11233916-T-C c.2207T>C p.V736A Missense 15/18 - 1
19-11233920-G-T c.2211G>T p.R737S Missense 15/18 - 1
19-11233924-C-A c.2215C>A p.Q739K Missense 15/18 - 1
19-11233924-C-T c.2215C>T p.Q739* Nonsense 15/18 - 6
19-11233930-AC-TA c.2221_2222delinsTA p.T741* Nonsense 15/18 - 1
19-11233936-AC-A c.2230del p.R744Dfs*21 Frameshift 15/18 - 1
19-11233939-C-A c.2230C>A p.R744= Synonymous 15/18 - 3
19-11233939-C-T c.2230C>T p.R744* Nonsense 15/18 - 6
19-11233941-A-C c.2232A>C p.R744= Synonymous 15/18 - 3
19-11233941-A-T c.2232A>T p.R744= Synonymous 15/18 - 3
19-11233940-G-A c.2231G>A p.R744Q Missense 15/18 - 6
19-11233941-A-G c.2232A>G p.R744= Synonymous 15/18 - 15
19-11233951-G-A c.2242G>A p.D748N Missense 15/18 - 1
19-11233961-G-A c.2252G>A p.R751Q Missense 15/18 - 1
19-11233970-GGGCCACCCCT-G c.2264_2273del p.A755Gfs*7 Frameshift 15/18 - 2
19-11233975-AC-A c.2270del p.P757Lfs*8 Frameshift 15/18 - 1
19-11233980-CT-C c.2271del p.L759Sfs*6 Frameshift 15/18 - 1
19-11233983-GCTCACCACGGTGGAGATAGTGACAATGT-G c.2282_2309del p.T761Kfs*18 Frameshift 15/18 - 1
19-11233994-TG-T c.2287del p.E763Rfs*2 Frameshift 15/18 - 2
19-11233998-G-T c.2289G>T p.E763D Missense 15/18 - 3
19-11234001-AGTGACAAT-A c.2295_2302del p.T766Sfs*13 Frameshift 15/18 - 1
19-11234006-CA-C c.2299del p.M767Cfs*21 Frameshift 15/18 - 1
19-11234017-C-T c.2308C>T p.Q770* Nonsense 15/18 - 1
19-11234020-G-A c.2311G>A p.A771T Missense 15/18 - 1
19-11234021-G-T c.2311+1G>T - IntronicSNV - 15/17 1
19-11236121-C-G c.2311+2101C>G - IntronicSNV - 15/17 1
19-11236121-C-T c.2311+2101C>T - IntronicSNV - 15/17 1
19-11236804-T-C c.2312-1880T>C - IntronicSNV - 15/17 2
19-11237269-G-A c.2312-1415G>A - IntronicSNV - 15/17 1
19-11237772-A-G c.2312-912A>G - IntronicSNV - 15/17 3
19-11238239-C-G c.2312-445C>G - IntronicSNV - 15/17 4
19-11238473-A-C c.2312-211A>C - IntronicSNV - 15/17 7
19-11238473-A-G c.2312-211A>G - IntronicSNV - 15/17 7
19-11238473-A-T c.2312-211A>T - IntronicSNV - 15/17 7
19-11238548-A-G c.2312-136A>G - IntronicSNV - 15/17 2
19-11238548-A-T c.2312-136A>T - IntronicSNV - 15/17 2
19-11238681-C-A c.2312-3C>A - IntronicSNV - 15/17 2
19-11238681-C-T c.2312-3C>T - IntronicSNV - 15/17 2
19-11238684-C-T c.2312C>T p.A771V Missense 16/18 - 1
19-11238687-TG-T c.2318del p.G773Afs*15 Frameshift 16/18 - 1
19-11238692-G-A c.2320G>A p.D774N Missense 16/18 - 1
19-11238696-T-C c.2324T>C p.V775A Missense 16/18 - 1
19-11238698-G-T c.2326G>T p.A776S Missense 16/18 - 1
19-11238699-C-T c.2327C>T p.A776V Missense 16/18 - 1
19-11238704-AG-CT c.2332_2333inv p.R778L Missense 16/18 - 1
19-11238705-G-T c.2333G>T p.R778I Missense 16/18 - 1
19-11238719-A-C c.2347A>C p.K783Q Missense 16/18 - 1
19-11238730-C-T c.2358C>T p.S786= Synonymous 16/18 - 1
19-11238731-G-A c.2359G>A p.V787M Missense 16/18 - 1
19-11238743-TC-CT c.2371_2372delinsCT p.S791L Missense 16/18 - 1
19-11238747-T-C c.2375T>C p.I792T Missense 16/18 - 1
19-11238752-C-T c.2380C>T p.L794F Missense 16/18 - 1
19-11238756-C-T c.2384C>T p.P795L Missense 16/18 - 1
19-11238756-CCAT-C c.2386_2388del p.I796del InFrameDeletion 16/18 - 3
19-11238761-G-A c.2389G>A p.V797M Missense 16/18 - 12
19-11238761-G-C c.2389G>C p.V797L Missense 16/18 - 1
19-11238761-G-T c.2389G>T p.V797L Missense 16/18 - 3
19-11238763-T-G c.2389+2T>G - IntronicSNV - 16/17 2
19-11238766-G-A c.2389+5G>A - IntronicSNV - 16/17 2
19-11238766-G-T c.2389+5G>T - IntronicSNV - 16/17 2
19-11238775-G-A c.2389+14G>A - IntronicSNV - 16/17 1
19-11238807-C-G c.2389+46C>G - IntronicSNV - 16/17 1
19-11238807-C-T c.2389+46C>T - IntronicSNV - 16/17 2
19-11238808-G-A c.2389+47G>A - IntronicSNV - 16/17 1
19-11238877-G-A c.2389+116G>A - IntronicSNV - 16/17 1
19-11238877-G-T c.2389+116G>T - IntronicSNV - 16/17 1
19-11239696-C-T c.2390-493C>T - IntronicSNV - 16/17 1
19-11240053-G-A c.2390-136G>A - IntronicSNV - 16/17 2
19-11240053-G-T c.2390-136G>T - IntronicSNV - 16/17 2
19-11240150-C-CG c.2390-34dup - IntronicInsertion - 16/17 1
19-11240186-C-T c.2390-3C>T - IntronicSNV - 16/17 1
19-11240187-A-G c.2390-2A>G - IntronicSNV - 16/17 1
19-11240189-T-A c.2390T>A p.V797E Missense 17/18 - 1
19-11240195-T-G c.2396T>G p.L799R Missense 17/18 - 5
19-11240191-CTCCTCGTCT-C c.2397_2405del p.V800_L802del InFrameDeletion 17/18 - 1
19-11240196-TC-T c.2397del p.V800Sfs*129 Frameshift 17/18 - 1
19-11240198-TCTTC-T c.2403_2406del p.L802Afs*126 Frameshift 17/18 - 2
19-11240203-CCTT-C c.2404_2406del p.L802del InFrameDeletion 17/18 - 1
19-11240212-G-A c.2413G>A p.G805R Missense 17/18 - 4
19-11240212-G-C c.2413G>C p.G805R Missense 17/18 - 3
19-11240212-GG-CT c.2413_2414delinsCT p.G805L Missense 17/18 - 1
19-11240213-G-C c.2414G>C p.G805A Missense 17/18 - 1
19-11240210-TG-T c.2416del p.V806Sfs*123 Frameshift 17/18 - 1
19-11240210-T-TG c.2416dup p.V806Gfs*11 Frameshift 17/18 - 7
19-11240216-T-TC c.2418dup p.F807Lfs*10 Frameshift 17/18 - 1
19-11240221-C-G c.2422C>G p.L808V Missense 17/18 - 1
19-11240225-T-G c.2426T>G p.L809R Missense 17/18 - 1
19-11240228-G-A c.2429G>A p.W810* Nonsense 17/18 - 1
19-11240229-G-A c.2430G>A p.W810* Nonsense 17/18 - 1
19-11240230-A-T c.2431A>T p.K811* Nonsense 17/18 - 7
19-11240231-A-G c.2432A>G p.K811R Missense 17/18 - 1
19-11240236-TG-GC c.2437_2438delinsGC p.W813A Missense 17/18 - 1
19-11240238-G-A c.2439G>A p.W813* Nonsense 17/18 - 1
19-11240239-CG-TA c.2440_2441delinsTA p.R814* Nonsense 17/18 - 1
19-11240239-C-T c.2440C>T p.R814W Missense 17/18 - 1
19-11240242-C-T c.2443C>T p.L815F Missense 17/18 - 1
19-11240245-AA-GC c.2446_2447delinsGC p.K816A Missense 17/18 - 1
19-11240245-A-T c.2446A>T p.K816* Nonsense 17/18 - 3
19-11240247-G-C c.2448G>C p.K816N Missense 17/18 - 2
19-11240248-AA-GC c.2449_2450delinsGC p.N817A Missense 17/18 - 1
19-11240257-AG-GA c.2458_2459delinsGA p.S820D Missense 17/18 - 1
19-11240260-ATC-GAG c.2461_2463delinsGAG p.I821E Missense 17/18 - 1
19-11240266-TT-GC c.2467_2468delinsGC p.F823A Missense 17/18 - 1
19-11240271-C-G c.2472C>G p.D824E Missense 17/18 - 1
19-11240272-A-G c.2473A>G p.N825D Missense 17/18 - 1
19-11240274-C-A c.2475C>A p.N825K Missense 17/18 - 6
19-11240274-C-G c.2475C>G p.N825K Missense 17/18 - 2
19-11240275-C-A c.2476C>A p.P826T Missense 17/18 - 1
19-11240278-G-A c.2479G>A p.V827I Missense 17/18 - 13
19-11240278-G-C c.2479G>C p.V827L Missense 17/18 - 1
19-11240278-G-T c.2479G>T p.V827F Missense 17/18 - 3
19-11240281-T-A c.2482T>A p.Y828N Missense 17/18 - 1
19-11240281-T-C c.2482T>C p.Y828H Missense 17/18 - 1
19-11240282-A-G c.2483A>G p.Y828C Missense 17/18 - 6
19-11240288-A-G c.2489A>G p.K830R Missense 17/18 - 1
19-11240291-CCA-C c.2495_2496del p.T832Rfs*3 Frameshift 17/18 - 1
19-11240296-G-A c.2497G>A p.E833K Missense 17/18 - 1
19-11240298-G-A c.2499G>A p.E833= Synonymous 17/18 - 1
19-11240298-G-GA c.2499_2500insA p.D834Rfs*2 Frameshift 17/18 - 1
19-11240298-G-T c.2499G>T p.E833D Missense 17/18 - 1
19-11240299-G-A c.2500G>A p.D834N Missense 17/18 - 1
19-11240299-G-GC c.2500_2501insC p.D834Afs*2 Frameshift 17/18 - 1
19-11240298-GGAT-G c.2502_2504del p.D834del InFrameDeletion 17/18 - 1
19-11240303-A-C c.2504A>C p.E835A Missense 17/18 - 1
19-11240306-TC-T c.2509del p.H837Tfs*92 Frameshift 17/18 - 1
19-11240309-A-G c.2510A>G p.H837R Missense 17/18 - 1
19-11240317-CA-GC c.2518_2519delinsGC p.H840A Missense 17/18 - 8
19-11240330-G-A c.2531G>A p.G844D Missense 17/18 - 5
19-11240332-TA-GC c.2533_2534delinsGC p.Y845A Missense 17/18 - 1
19-11240345-C-A c.2546C>A p.S849* Nonsense 17/18 - 2
19-11240345-C-T c.2546C>T p.S849L Missense 17/18 - 2
19-11240347-G-A c.2547+1G>A - IntronicSNV - 17/17 1
19-11240351-G-C c.2547+5G>C - IntronicSNV - 17/17 1
19-11241877-G-A c.2548-80G>A - IntronicSNV - 17/17 2
19-11241904-G-A c.2548-53G>A - IntronicSNV - 17/17 2
19-11241915-A-G c.2548-42A>G - IntronicSNV - 17/17 12
19-11241958-G-A c.2549G>A p.R850K Missense 18/18 - 1
19-11241961-A-G c.2552A>G p.Q851R Missense 18/18 - 3
19-11241969-A-G c.2560A>G p.S854G Missense 18/18 - 2
19-11241983-C-CA c.2574_2575insA p.V859Sfs*73 Frameshift 18/18 - 1
19-11241984-G-A c.2575G>A p.V859M Missense 18/18 - 3
19-11241988-C-T c.2579C>T p.A860V Missense 18/18 - 1
19-11242041-G-A c.*49G>A - 3-UTRSNV 18/18 - 1
19-11242044-G-A c.*52G>A - 3-UTRSNV 18/18 - 16
19-11242133-G-A c.*141G>A - 3-UTRSNV 18/18 - 4
19-11242307-G-C c.*315G>C - 3-UTRSNV 18/18 - 10
19-11242496-G-A c.*504G>A - 3-UTRSNV 18/18 - 6
19-11242658-T-A c.*666T>A - 3-UTRSNV 18/18 - 22
19-11242658-T-C c.*666T>C - 3-UTRSNV 18/18 - 22
19-11242765-A-G c.*773A>G - 3-UTRSNV 18/18 - 11
19-11243160-G-A c.*1168G>A - 3-UTRSNV 18/18 - 1
19-11243209-C-A c.*1217C>A - 3-UTRSNV 18/18 - 1
19-11243209-C-G c.*1217C>G - 3-UTRSNV 18/18 - 1
19-11243422-C-A c.*1430C>A - 3-UTRSNV 18/18 - 1
19-11243422-C-T c.*1430C>T - 3-UTRSNV 18/18 - 1
19-11243445-A-G c.*1453A>G - 3-UTRSNV 18/18 - 10
19-11243502-T-C c.*1510T>C - 3-UTRSNV 18/18 - 1
19-11243735-C-G c.*1743C>G - 3-UTRSNV 18/18 - 1
19-11243735-C-T c.*1743C>T - 3-UTRSNV 18/18 - 1