ALPK1

ALPK1 alpha kinase 1

Annotation transcript: NM_025144.4

1341 unique variant annotations were identified in 605 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
4-113220802-T-C c.-153+2177T>C - intron_variant - 1/15 2
4-113262349-C-T c.-101+25341C>T - intron_variant - 2/15 4
4-113270212-T-C c.-100-28622T>C - IntronicSNV - 2/15 1
4-113270212-T-G c.-100-28622T>G - IntronicSNV - 2/15 1
4-113276576-A-G c.-100-22258A>G - IntronicSNV - 2/15 1
4-113277168-T-C c.-100-21666T>C - IntronicSNV - 2/15 2
4-113277921-C-T c.-100-20913C>T - IntronicSNV - 2/15 1
4-113278057-C-T c.-100-20777C>T - IntronicSNV - 2/15 2
4-113278172-A-C c.-100-20662A>C - IntronicSNV - 2/15 2
4-113278172-A-T c.-100-20662A>T - IntronicSNV - 2/15 2
4-113278511-T-C c.-100-20323T>C - IntronicSNV - 2/15 2
4-113278606-C-T c.-100-20228C>T - IntronicSNV - 2/15 1
4-113278887-T-C c.-100-19947T>C - IntronicSNV - 2/15 1
4-113279123-C-T c.-100-19711C>T - IntronicSNV - 2/15 2
4-113279466-A-G c.-100-19368A>G - IntronicSNV - 2/15 1
4-113279681-G-A c.-100-19153G>A - IntronicSNV - 2/15 1
4-113279968-C-A c.-100-18866C>A - IntronicSNV - 2/15 2
4-113279968-C-G c.-100-18866C>G - IntronicSNV - 2/15 2
4-113280747-C-G c.-100-18087C>G - IntronicSNV - 2/15 1
4-113280747-C-T c.-100-18087C>T - IntronicSNV - 2/15 1
4-113298934-A-G c.1A>G p.M1? Missense 3/16 - 1
4-113298936-G-A c.3G>A p.M1? Missense 3/16 - 1
4-113298939-T-C c.6T>C p.N2= Synonymous 3/16 - 1
4-113298942-T-A c.9T>A p.N3K Missense 3/16 - 2
4-113298942-T-G c.9T>G p.N3K Missense 3/16 - 2
4-113298953-T-C c.20T>C p.V7A Missense 3/16 - 3
4-113298954-A-C c.21A>C p.V7= Synonymous 3/16 - 1
4-113298965-T-C c.32T>C p.L11P Missense 3/16 - 1
4-113298967-C-A c.34C>A p.Q12K Missense 3/16 - 2
4-113298969-A-C c.36A>C p.Q12H Missense 3/16 - 1
4-113298969-A-G c.36A>G p.Q12= Synonymous 3/16 - 1
4-113298969-A-T c.36A>T p.Q12H Missense 3/16 - 2
4-113298970-G-T c.37G>T p.E13* Nonsense 3/16 - 1
4-113298974-G-A c.41G>A p.C14Y Missense 3/16 - 1
4-113298979-C-T c.46C>T p.Q16* Nonsense 3/16 - 2
4-113298981-A-C c.48A>C p.Q16H Missense 3/16 - 1
4-113298981-A-T c.48A>T p.Q16H Missense 3/16 - 1
4-113298985-CTG-TTT c.52_54delinsTTT p.L18F Missense 3/16 - 1
4-113298988-G-T c.55G>T p.D19Y Missense 3/16 - 1
4-113298991-C-G c.58C>G p.Q20E Missense 3/16 - 1
4-113298991-C-T c.58C>T p.Q20* Nonsense 3/16 - 1
4-113298992-A-G c.59A>G p.Q20R Missense 3/16 - 1
4-113298993-G-A c.60G>A p.Q20= Synonymous 3/16 - 1
4-113298993-G-C c.60G>C p.Q20H Missense 3/16 - 1
4-113298993-G-T c.60G>T p.Q20H Missense 3/16 - 1
4-113298997-T-C c.64T>C p.L22= Synonymous 3/16 - 1
4-113298999-G-A c.66G>A p.L22= Synonymous 3/16 - 1
4-113298998-T-A c.65T>A p.L22* Nonsense 3/16 - 1
4-113298999-G-T c.66G>T p.L22F Missense 3/16 - 1
4-113299000-T-G c.67T>G p.L23V Missense 3/16 - 1
4-113299005-A-T c.72A>T p.E24D Missense 3/16 - 1
4-113299006-G-T c.73G>T p.A25S Missense 3/16 - 1
4-113299007-C-G c.74C>G p.A25G Missense 3/16 - 1
4-113299007-CG-AC c.74_75delinsAC p.A25D Missense 3/16 - 2
4-113299008-G-A c.75G>A p.A25= Synonymous 3/16 - 1
4-113299008-G-C c.75G>C p.A25= Synonymous 3/16 - 1
4-113299008-G-T c.75G>T p.A25= Synonymous 3/16 - 1
4-113299015-G-A c.82G>A p.V28M Missense 3/16 - 1
4-113299015-GTG-ATC c.82_84delinsATC p.V28I Missense 3/16 - 1
4-113299019-C-T c.86C>T p.S29L Missense 3/16 - 5
4-113299020-G-A c.87G>A p.S29= Synonymous 3/16 - 1
4-113299020-G-C c.87G>C p.S29= Synonymous 3/16 - 1
4-113299020-G-T c.87G>T p.S29= Synonymous 3/16 - 1
4-113299021-G-A c.88G>A p.E30K Missense 3/16 - 4
4-113299024-G-A c.91G>A p.E31K Missense 3/16 - 1
4-113299026-G-A c.93G>A p.E31= Synonymous 3/16 - 1
4-113299026-G-T c.93G>T p.E31D Missense 3/16 - 2
4-113299028-A-G c.95A>G p.D32G Missense 3/16 - 2
4-113299031-A-T c.98A>T p.K33M Missense 3/16 - 3
4-113299036-GAG-TGT c.103_105delinsTGT p.E35C Missense 3/16 - 1
4-113299036-G-T c.103G>T p.E35* Nonsense 3/16 - 1
4-113299038-G-A c.105G>A p.E35= Synonymous 3/16 - 1
4-113299039-G-A c.106G>A p.D36N Missense 3/16 - 1
4-113299045-CGC-TGG c.112_114delinsTGG p.R38W Missense 3/16 - 1
4-113299046-G-A c.113G>A p.R38H Missense 3/16 - 1
4-113299050-C-T c.117C>T p.C39= Synonymous 3/16 - 1
4-113299073-G-A c.121+19G>A - IntronicSNV - 3/15 1
4-113300576-C-G c.121+1522C>G - IntronicSNV - 3/15 1
4-113303523-A-G c.122-31A>G - IntronicSNV - 3/15 1
4-113303523-A-T c.122-31A>T - IntronicSNV - 3/15 1
4-113303554-C-T c.122C>T p.A41V Missense 4/16 - 1
4-113303555-T-C c.123T>C p.A41= Synonymous 4/16 - 1
4-113303557-T-C c.125T>C p.L42S Missense 4/16 - 2
4-113303560-T-C c.128T>C p.L43P Missense 4/16 - 1
4-113303561-C-T c.129C>T p.L43= Synonymous 4/16 - 1
4-113303562-C-T c.130C>T p.P44S Missense 4/16 - 1
4-113303563-C-T c.131C>T p.P44L Missense 4/16 - 1
4-113303564-C-A c.132C>A p.P44= Synonymous 4/16 - 1
4-113303564-C-G c.132C>G p.P44= Synonymous 4/16 - 1
4-113303564-C-T c.132C>T p.P44= Synonymous 4/16 - 1
4-113303567-C-T c.135C>T p.S45= Synonymous 4/16 - 1
4-113303570-G-C c.138G>C p.E46D Missense 4/16 - 1
4-113303570-G-T c.138G>T p.E46D Missense 4/16 - 1
4-113303577-A-T c.145A>T p.T49S Missense 4/16 - 1
4-113303579-C-A c.147C>A p.T49= Synonymous 4/16 - 1
4-113303582-G-A c.150G>A p.L50= Synonymous 4/16 - 1
4-113303585-C-A c.153C>A p.I51= Synonymous 4/16 - 1
4-113303585-C-T c.153C>T p.I51= Synonymous 4/16 - 4
4-113303587-A-C c.155A>C p.Q52P Missense 4/16 - 1
4-113303587-A-T c.155A>T p.Q52L UnclassifiedSNV 4/16 - 2
4-113303589-G-A c.157G>A p.E53K Missense 4/16 - 2
4-113303592-GC-CT c.160_161delinsCT p.A54L Missense 4/16 - 1
4-113303595-A-G c.163A>G p.K55E Missense 4/16 - 1
4-113303595-A-T c.163A>T p.K55* Nonsense 4/16 - 1
4-113303597-G-A c.165G>A p.K55= Synonymous 4/16 - 2
4-113303604-A-C c.172A>C p.K58Q Missense 4/16 - 1
4-113303606-G-A c.174G>A p.K58= Synonymous 4/16 - 2
4-113303614-T-C c.182T>C p.F61S Missense 4/16 - 2
4-113303615-C-T c.183C>T p.F61= Synonymous 4/16 - 1
4-113303616-G-A c.184G>A p.V62M Missense 4/16 - 10
4-113303616-G-C c.184G>C p.V62L Missense 4/16 - 1
4-113303619-C-T c.187C>T p.P63S Missense 4/16 - 2
4-113303624-A-G c.192A>G p.E64= Synonymous 4/16 - 1
4-113303632-A-G c.200A>G p.Q67R Missense 4/16 - 9
4-113303633-G-A c.201G>A p.Q67= Synonymous 4/16 - 1
4-113303635-A-G c.203A>G p.Y68C Missense 4/16 - 1
4-113303644-C-T c.212C>T p.A71V Missense 4/16 - 1
4-113303646-G-A c.214G>A p.V72M Missense 4/16 - 7
4-113303646-G-C c.214G>C p.V72L Missense 4/16 - 2
4-113303646-G-T c.214G>T p.V72L Missense 4/16 - 3
4-113303649-G-A c.217G>A p.G73S Missense 4/16 - 1
4-113303650-G-T c.218G>T p.G73V Missense 4/16 - 1
4-113303657-G-A c.225G>A p.E75= Synonymous 4/16 - 1
4-113303657-G-C c.225G>C p.E75D Missense 4/16 - 1
4-113303657-G-T c.225G>T p.E75D Missense 4/16 - 1
4-113303658-G-C c.226G>C p.D76H Missense 4/16 - 1
4-113303665-C-A c.233C>A p.T78K Missense 4/16 - 1
4-113303669-ACCTGAAG-A c.237_243del p.N79Kfs*3 Frameshift 4/16 - 1
4-113303670-C-A c.238C>A p.L80M Missense 4/16 - 1
4-113303671-T-C c.239T>C p.L80P Missense 4/16 - 1
4-113303677-GA-G c.245del p.D82Vfs*2 Frameshift 4/16 - 1
4-113303683-T-C c.251T>C p.I84T Missense 4/16 - 3
4-113303688-G-A c.256G>A p.A86T Missense 4/16 - 2
4-113303688-GC-TT c.256_257delinsTT p.A86F Missense 4/16 - 1
4-113303689-C-T c.257C>T p.A86V Missense 4/16 - 2
4-113303690-C-T c.258C>T p.A86= Synonymous 4/16 - 1
4-113303691-G-A c.259G>A p.G87R Missense 4/16 - 2
4-113303694-T-A c.262T>A p.L88M Missense 4/16 - 1
4-113303697-CA-GC c.265_266delinsGC p.Q89A Missense 4/16 - 1
4-113303698-A-G c.266A>G p.Q89R Missense 4/16 - 1
4-113303699-G-A c.267G>A p.Q89= Synonymous 4/16 - 1
4-113303701-A-T c.269A>T p.Q90L Missense 4/16 - 1
4-113303706-C-T c.274C>T p.L92= Synonymous 4/16 - 1
4-113303708-G-A c.276G>A p.L92= Synonymous 4/16 - 1
4-113303708-G-C c.276G>C p.L92= Synonymous 4/16 - 1
4-113303708-G-T c.276G>T p.L92= Synonymous 4/16 - 1
4-113303709-G-T c.276+1G>T - IntronicSNV - 4/15 1
4-113307686-C-G c.276+3978C>G - IntronicSNV - 4/15 1
4-113307711-C-G c.276+4003C>G - IntronicSNV - 4/15 5
4-113307711-C-T c.276+4003C>T - IntronicSNV - 4/15 5
4-113307721-T-C c.276+4013T>C - IntronicSNV - 4/15 1
4-113307949-C-G c.276+4241C>G - IntronicSNV - 4/15 1
4-113307949-C-T c.276+4241C>T - IntronicSNV - 4/15 1
4-113307980-T-C c.276+4272T>C - IntronicSNV - 4/15 1
4-113307980-T-G c.276+4272T>G - IntronicSNV - 4/15 1
4-113308020-A-G c.276+4312A>G - IntronicSNV - 4/15 1
4-113308030-G-A c.276+4322G>A - IntronicSNV - 4/15 1
4-113310347-C-T c.276+6639C>T - IntronicSNV - 4/15 1
4-113310981-A-C c.276+7273A>C - IntronicSNV - 4/15 1
4-113311790-C-A c.276+8082C>A - IntronicSNV - 4/15 7
4-113311790-C-T c.276+8082C>T - IntronicSNV - 4/15 7
4-113312105-C-T c.276+8397C>T - IntronicSNV - 4/15 1
4-113313986-T-C c.276+10278T>C - IntronicSNV - 4/15 1
4-113317583-T-C c.276+13875T>C - IntronicSNV - 4/15 3
4-113317926-T-C c.276+14218T>C - IntronicSNV - 4/15 1
4-113317925-GT-G c.276+14226del - IntronicDeletion - 4/15 1
4-113325025-A-G c.277-7958A>G - IntronicSNV - 4/15 1
4-113329465-C-T c.277-3518C>T - IntronicSNV - 4/15 1
4-113330704-TAGTCAC-T c.277-2276_277-2271del - IntronicDeletion - 4/15 1
4-113330772-T-C c.277-2211T>C - IntronicSNV - 4/15 1
4-113331790-G-T c.277-1193G>T - IntronicSNV - 4/15 1
4-113332983-G-A c.277G>A p.A93T Missense 5/16 - 2
4-113332984-C-A c.278C>A p.A93E Missense 5/16 - 1
4-113332984-C-T c.278C>T p.A93V Missense 5/16 - 5
4-113332985-G-C c.279G>C p.A93= Synonymous 5/16 - 1
4-113332986-T-G c.280T>G p.S94A Missense 5/16 - 1
4-113332992-AGG-TGT c.286_288delinsTGT p.R96C Missense 5/16 - 1
4-113332992-A-T c.286A>T p.R96W Missense 5/16 - 2
4-113332996-C-T c.290C>T p.A97V Missense 5/16 - 1
4-113332999-CC-AA c.293_294delinsAA p.S98* Nonsense 5/16 - 1
4-113333004-C-T c.298C>T p.L100F Missense 5/16 - 1
4-113333007-G-A c.301G>A p.A101T Missense 5/16 - 2
4-113333008-C-T c.302C>T p.A101V Missense 5/16 - 2
4-113333012-G-A c.306G>A p.R102= Synonymous 5/16 - 1
4-113333020-C-T c.314C>T p.A105V Missense 5/16 - 2
4-113333022-G-A c.316G>A p.A106T Missense 5/16 - 1
4-113333026-C-T c.320C>T p.A107V Missense 5/16 - 1
4-113333027-G-A c.321G>A p.A107= Synonymous 5/16 - 4
4-113333027-G-C c.321G>C p.A107= Synonymous 5/16 - 2
4-113333027-G-T c.321G>T p.A107= Synonymous 5/16 - 4
4-113333026-C-CG c.322dup p.A108Gfs*79 Frameshift 5/16 - 1
4-113333030-G-A c.324G>A p.A108= Synonymous 5/16 - 3
4-113333030-G-C c.324G>C p.A108= Synonymous 5/16 - 3
4-113333030-G-T c.324G>T p.A108= Synonymous 5/16 - 3
4-113333031-G-A c.325G>A p.A109T Missense 5/16 - 1
4-113333043-TT-CC c.337_338delinsCC p.L113P Missense 5/16 - 1
4-113333046-G-A c.340G>A p.V114M Missense 5/16 - 2
4-113333046-G-C c.340G>C p.V114L Missense 5/16 - 1
4-113333046-G-T c.340G>T p.V114L Missense 5/16 - 1
4-113333049-G-A c.343G>A p.D115N Missense 5/16 - 1
4-113333049-G-C c.343G>C p.D115H Missense 5/16 - 1
4-113333050-A-T c.344A>T p.D115V Missense 5/16 - 1
4-113333052-CCGG-C c.346_348del p.R116del InFrameDeletion 5/16 - 2
4-113333052-C-T c.346C>T p.R116W Missense 5/16 - 1
4-113333053-G-A c.347G>A p.R116Q Missense 5/16 - 1
4-113333057-C-T c.351C>T p.F117= Synonymous 5/16 - 1
4-113333058-CTG-TTT c.352_354delinsTTT p.L118F Missense 5/16 - 1
4-113333067-C-T c.361C>T p.L121F Missense 5/16 - 1
4-113333070-G-A c.364G>A p.D122N Missense 5/16 - 1
4-113333073-G-A c.367G>A p.V123I Missense 5/16 - 1
4-113333073-G-C c.367G>C p.V123L Missense 5/16 - 1
4-113333075-C-T c.369C>T p.V123= Synonymous 5/16 - 1
4-113333078-T-A c.372T>A p.S124= Synonymous 5/16 - 1
4-113333079-G-C c.373G>C p.G125R Missense 5/16 - 1
4-113333083-A-G c.377A>G p.K126R Missense 5/16 - 1
4-113333088-C-T c.382C>T p.L128= Synonymous 5/16 - 2
4-113333090-G-A c.384G>A p.L128= Synonymous 5/16 - 1
4-113333090-G-C c.384G>C p.L128= Synonymous 5/16 - 1
4-113333090-G-T c.384G>T p.L128= Synonymous 5/16 - 1
4-113333094-G-T c.388G>T p.V130F Missense 5/16 - 1
4-113333096-C-T c.390C>T p.V130= Synonymous 5/16 - 3
4-113333097-G-A c.391G>A p.A131T Missense 5/16 - 3
4-113333097-G-T c.391G>T p.A131S Missense 5/16 - 1
4-113333104-GT-AG c.398_399delinsAG p.G133E Missense 5/16 - 2
4-113333108-C-T c.402C>T p.L134= Synonymous 5/16 - 1
4-113333111-C-A c.405C>A p.H135Q Missense 5/16 - 1
4-113333111-C-G c.405C>G p.H135Q Missense 5/16 - 1
4-113333121-C-T c.415C>T p.P139S Missense 5/16 - 1
4-113333128-C-T c.422C>T p.T141M Missense 5/16 - 2
4-113333134-T-C c.428T>C p.I143T Missense 5/16 - 1
4-113333134-T-TACAAGAGCACAGATACTAGC c.428_429insACAAGAGCACAGATACTAGC p.A144Qfs*6 Frameshift 5/16 - 1
4-113333136-G-A c.430G>A p.A144T Missense 5/16 - 1
4-113333136-G-T c.430G>T p.A144S Missense 5/16 - 1
4-113333137-C-G c.431C>G p.A144G Missense 5/16 - 1
4-113333139-C-T c.433C>T p.P145S Missense 5/16 - 6
4-113333148-G-A c.442G>A p.V148I Missense 5/16 - 1
4-113333151-A-G c.445A>G p.I149V Missense 5/16 - 1
4-113333154-C-T c.448C>T p.R150C Missense 5/16 - 5
4-113333155-G-A c.449G>A p.R150H Missense 5/16 - 2
4-113333155-G-T c.449G>T p.R150L Missense 5/16 - 1
4-113333157-C-T c.451C>T p.Q151* Nonsense 5/16 - 1
4-113333158-A-C c.452A>C p.Q151P Missense 5/16 - 2
4-113333159-A-C c.453A>C p.Q151H Missense 5/16 - 1
4-113333159-A-T c.453A>T p.Q151H Missense 5/16 - 1
4-113333163-CGA-TGG c.457_459delinsTGG p.R153W Missense 5/16 - 1
4-113333164-G-C c.458G>C p.R153P Missense 5/16 - 1
4-113333169-T-A c.463T>A p.S155T Missense 5/16 - 1
4-113333170-C-T c.464C>T p.S155F Missense 5/16 - 2
4-113333171-C-A c.465C>A p.S155= Synonymous 5/16 - 1
4-113333171-C-G c.465C>G p.S155= Synonymous 5/16 - 1
4-113333171-C-T c.465C>T p.S155= Synonymous 5/16 - 1
4-113333173-T-C c.467T>C p.V156A Missense 5/16 - 1
4-113333172-GTGAAC-G c.468_472del p.N157Rfs*28 Frameshift 5/16 - 1
4-113333183-T-C c.475+2T>C - IntronicSNV - 5/15 1
4-113333371-A-G c.475+190A>G - IntronicSNV - 5/15 1
4-113333439-T-C c.475+258T>C - IntronicSNV - 5/15 1
4-113333482-T-C c.475+301T>C - IntronicSNV - 5/15 1
4-113333512-T-C c.475+331T>C - IntronicSNV - 5/15 1
4-113333535-C-A c.475+354C>A - IntronicSNV - 5/15 1
4-113333719-A-G c.475+538A>G - IntronicSNV - 5/15 1
4-113333765-G-C c.475+584G>C - IntronicSNV - 5/15 1
4-113335401-C-A c.475+2220C>A - IntronicSNV - 5/15 1
4-113335614-A-G c.475+2433A>G - IntronicSNV - 5/15 2
4-113336359-GA-G c.475+3187del - IntronicDeletion - 5/15 1
4-113338824-TAG-T c.475+5646_475+5647del - IntronicDeletion - 5/15 1
4-113343224-T-G c.476-1876T>G - IntronicSNV - 5/15 1
4-113344431-T-G c.476-669T>G - IntronicSNV - 5/15 1
4-113344564-A-C c.476-536A>C - IntronicSNV - 5/15 2
4-113344576-G-A c.476-524G>A - IntronicSNV - 5/15 1
4-113344685-C-T c.476-415C>T - IntronicSNV - 5/15 3
4-113344826-A-G c.476-274A>G - IntronicSNV - 5/15 4
4-113344925-C-T c.476-175C>T - IntronicSNV - 5/15 4
4-113344962-T-A c.476-138T>A - IntronicSNV - 5/15 1
4-113344962-T-C c.476-138T>C - IntronicSNV - 5/15 1
4-113345100-GA-G c.480del p.K160Nfs*3 Frameshift 6/16 - 1
4-113345108-T-G c.484T>G p.L162V Missense 6/16 - 2
4-113345110-A-T c.486A>T p.L162F Missense 6/16 - 1
4-113345111-A-G c.487A>G p.K163E Missense 6/16 - 1
4-113345113-A-C c.489A>C p.K163N Missense 6/16 - 2
4-113345113-A-G c.489A>G p.K163= Synonymous 6/16 - 1
4-113345113-A-T c.489A>T p.K163N Missense 6/16 - 2
4-113345115-C-A c.491C>A p.A164E Missense 6/16 - 1
4-113345119-G-C c.495G>C p.E165D Missense 6/16 - 1
4-113345119-G-T c.495G>T p.E165D Missense 6/16 - 1
4-113345123-A-G c.499A>G p.I167V Missense 6/16 - 2
4-113345126-C-T c.502C>T p.L168= Synonymous 6/16 - 2
4-113345129-A-G c.505A>G p.S169G Missense 6/16 - 1
4-113345130-G-A c.506G>A p.S169N Missense 6/16 - 2
4-113345130-G-T c.506G>T p.S169I Missense 6/16 - 1
4-113345132-AG-CC c.508_509delinsCC p.S170P Missense 6/16 - 1
4-113345135-C-G c.511C>G p.L171V Missense 6/16 - 1
4-113345144-A-G c.520A>G p.N174D Missense 6/16 - 1
4-113345145-A-G c.521A>G p.N174S Missense 6/16 - 1
4-113345146-C-A c.522C>A p.N174K Missense 6/16 - 2
4-113345146-C-G c.522C>G p.N174K Missense 6/16 - 2
4-113345147-A-G c.523A>G p.N175D Missense 6/16 - 13
4-113345153-G-T c.529G>T p.A177S Missense 6/16 - 3
4-113345156-A-G c.532A>G p.T178A Missense 6/16 - 1
4-113345157-C-T c.533C>T p.T178M Missense 6/16 - 1
4-113345164-G-A c.535+5G>A - IntronicSNV - 6/15 1
4-113345221-A-G c.535+62A>G - IntronicSNV - 6/15 1
4-113346665-A-G c.536-156A>G - IntronicSNV - 6/15 2
4-113346714-T-A c.536-107T>A - IntronicSNV - 6/15 3
4-113346714-T-C c.536-107T>C - IntronicSNV - 6/15 3
4-113346823-A-C c.538A>C p.T180P Missense 7/16 - 1
4-113346823-A-G c.538A>G p.T180A Missense 7/16 - 1
4-113346825-C-T c.540C>T p.T180= Synonymous 7/16 - 2
4-113346835-AGA-TGT c.550_552delinsTGT p.R184C Missense 7/16 - 1
4-113346844-A-C c.559A>C p.S187R Missense 7/16 - 1
4-113346846-T-A c.561T>A p.S187R Missense 7/16 - 1
4-113346846-T-C c.561T>C p.S187= Synonymous 7/16 - 1
4-113346846-T-G c.561T>G p.S187R Missense 7/16 - 2
4-113346852-G-C c.567G>C p.K189N Missense 7/16 - 1
4-113346852-G-T c.567G>T p.K189N Missense 7/16 - 1
4-113346856-C-T c.571C>T p.L191= Synonymous 7/16 - 1
4-113346857-T-C c.572T>C p.L191P Missense 7/16 - 1
4-113346861-G-C c.576G>C p.V192= Synonymous 7/16 - 1
4-113346862-C-T c.577C>T p.Q193* Nonsense 7/16 - 2
4-113346866-C-T c.581C>T p.S194L Missense 7/16 - 1
4-113346869-T-C c.584T>C p.V195A Missense 7/16 - 1
4-113346880-A-T c.595A>T p.I199F Missense 7/16 - 2
4-113346882-C-G c.597C>G p.I199M Missense 7/16 - 1
4-113346882-C-T c.597C>T p.I199= Synonymous 7/16 - 1
4-113346883-A-C c.598A>C p.R200= Synonymous 7/16 - 1
4-113346885-A-G c.600A>G p.R200= Synonymous 7/16 - 1
4-113346886-G-T c.601G>T p.G201W Missense 7/16 - 2
4-113346887-G-A c.602G>A p.G201E Missense 7/16 - 1
4-113346891-G-C c.606G>C p.Q202H Missense 7/16 - 2
4-113346891-G-T c.606G>T p.Q202H Missense 7/16 - 2
4-113346895-C-T c.610C>T p.L204= Synonymous 7/16 - 4
4-113346897-G-T c.612G>T p.L204= Synonymous 7/16 - 1
4-113346901-A-G c.616A>G p.K206E Missense 7/16 - 1
4-113346902-A-C c.617A>C p.K206T Missense 7/16 - 1
4-113346904-C-T c.619C>T p.L207= Synonymous 7/16 - 1
4-113346906-G-A c.621G>A p.L207= Synonymous 7/16 - 1
4-113346906-G-C c.621G>C p.L207= Synonymous 7/16 - 1
4-113346906-G-T c.621G>T p.L207= Synonymous 7/16 - 1
4-113346907-G-T c.622G>T p.G208W Missense 7/16 - 1
4-113346960-G-T c.622+53G>T - IntronicSNV - 7/15 1
4-113347035-C-T c.622+128C>T - IntronicSNV - 7/15 1
4-113347496-A-G c.623-127A>G - IntronicSNV - 7/15 6
4-113347496-A-T c.623-127A>T - IntronicSNV - 7/15 6
4-113347602-C-T c.623-21C>T - IntronicSNV - 7/15 1
4-113347623-G-A c.623G>A p.G208E Missense 8/16 - 1
4-113347634-G-A c.634G>A p.E212K Missense 8/16 - 4
4-113347641-C-A c.641C>A p.A214E Missense 8/16 - 1
4-113347643-G-A c.643G>A p.E215K Missense 8/16 - 1
4-113347648-A-C c.648A>C p.L216F Missense 8/16 - 1
4-113347648-A-T c.648A>T p.L216F Missense 8/16 - 1
4-113347649-A-C c.649A>C p.I217L Missense 8/16 - 1
4-113347649-A-T c.649A>T p.I217L Missense 8/16 - 1
4-113347653-G-T c.653G>T p.W218L Missense 8/16 - 1
4-113347659-C-T c.659C>T p.S220F Missense 8/16 - 1
4-113347675-G-C c.675G>C p.L225F Missense 8/16 - 1
4-113347675-G-T c.675G>T p.L225F Missense 8/16 - 1
4-113347676-G-A c.676G>A p.A226T Missense 8/16 - 1
4-113347677-C-G c.677C>G p.A226G Missense 8/16 - 1
4-113347677-C-T c.677C>T p.A226V Missense 8/16 - 2
4-113347678-A-G c.678A>G p.A226= Synonymous 8/16 - 2
4-113347688-C-T c.688C>T p.P230S Missense 8/16 - 1
4-113347690-G-A c.690G>A p.P230= Synonymous 8/16 - 2
4-113347690-G-C c.690G>C p.P230= Synonymous 8/16 - 2
4-113347690-G-GT c.690_691insT p.D231* Nonsense 8/16 - 1
4-113347690-G-T c.690G>T p.P230= Synonymous 8/16 - 2
4-113347691-G-A c.691G>A p.D231N Missense 8/16 - 1
4-113347692-A-G c.692A>G p.D231G Missense 8/16 - 1
4-113347694-AA-GC c.694_695delinsGC p.K232A Missense 8/16 - 1
4-113347699-G-A c.699G>A p.K233= Synonymous 8/16 - 1
4-113347699-G-C c.699G>C p.K233N Missense 8/16 - 1
4-113347699-G-T c.699G>T p.K233N Missense 8/16 - 1
4-113347750-G-A c.699+51G>A - IntronicSNV - 8/15 1
4-113348416-A-G c.700-310A>G - IntronicSNV - 8/15 1
4-113348509-A-T c.700-217A>T - IntronicSNV - 8/15 1
4-113348562-T-A c.700-164T>A - IntronicSNV - 8/15 1
4-113348566-A-T c.700-160A>T - IntronicSNV - 8/15 1
4-113348568-A-T c.700-158A>T - IntronicSNV - 8/15 1
4-113348569-A-G c.700-157A>G - IntronicSNV - 8/15 1
4-113348653-C-T c.700-73C>T - IntronicSNV - 8/15 1
4-113348729-CT-GC c.703_704delinsGC p.L235A Missense 9/16 - 1
4-113348727-GCCTCT-G c.704_708del p.L235Hfs*19 Frameshift 9/16 - 1
4-113348728-CCTCT-C c.704_707del p.L235Pfs*4 Frameshift 9/16 - 1
4-113348731-C-T c.705C>T p.L235= Synonymous 9/16 - 1
4-113348733-CC-AA c.707_708delinsAA p.S236* Nonsense 9/16 - 1
4-113348734-C-T c.708C>T p.S236= Synonymous 9/16 - 1
4-113348736-C-T c.710C>T p.T237M Missense 9/16 - 6
4-113348750-C-A c.724C>A p.L242M Missense 9/16 - 1
4-113348750-C-T c.724C>T p.L242= Synonymous 9/16 - 1
4-113348756-G-A c.730G>A p.D244N Missense 9/16 - 1
4-113348757-A-T c.731A>T p.D244V Missense 9/16 - 1
4-113348759-A-G c.733A>G p.I245V Missense 9/16 - 2
4-113348768-TC-T c.744del p.M249* Frameshift 9/16 - 1
4-113348770-C-G c.744C>G p.S248= Synonymous 9/16 - 1
4-113348773-G-A c.747G>A p.M249I Missense 9/16 - 3
4-113348773-G-C c.747G>C p.M249I Missense 9/16 - 5
4-113348773-G-T c.747G>T p.M249I Missense 9/16 - 3
4-113348782-C-A c.756C>A p.N252K Missense 9/16 - 2
4-113348782-C-G c.756C>G p.N252K Missense 9/16 - 1
4-113348782-C-T c.756C>T p.N252= Synonymous 9/16 - 2
4-113348783-G-A c.757G>A p.D253N Missense 9/16 - 8
4-113348784-A-G c.758A>G p.D253G Missense 9/16 - 1
4-113348787-A-G c.761A>G p.Y254C Missense 9/16 - 2
4-113348789-G-A c.763G>A p.E255K Missense 9/16 - 2
4-113348798-A-G c.772A>G p.K258E Missense 9/16 - 1
4-113348807-C-A c.781C>A p.P261T Missense 9/16 - 1
4-113348807-C-T c.781C>T p.P261S Missense 9/16 - 2
4-113348810-CAA-GAC c.784_786delinsGAC p.Q262D Missense 9/16 - 1
4-113348810-C-G c.784C>G p.Q262E Missense 9/16 - 1
4-113348812-A-G c.786A>G p.Q262= Synonymous 9/16 - 3
4-113348810-C-CA c.787dup p.I263Nfs*2 Frameshift 9/16 - 1
4-113348816-A-G c.790A>G p.N264D Missense 9/16 - 1
4-113348818-T-C c.792T>C p.N264= Synonymous 9/16 - 1
4-113348830-C-T c.795+9C>T - IntronicSNV - 9/15 1
4-113349020-C-G c.795+199C>G - IntronicSNV - 9/15 2
4-113349044-A-G c.795+223A>G - IntronicSNV - 9/15 1
4-113349072-CA-C c.795+253del - IntronicDeletion - 9/15 1
4-113349935-G-A c.796-370G>A - IntronicSNV - 9/15 1
4-113349935-G-C c.796-370G>C - IntronicSNV - 9/15 1
4-113349942-C-T c.796-363C>T - IntronicSNV - 9/15 1
4-113350154-C-A c.796-151C>A - IntronicSNV - 9/15 2
4-113350192-C-T c.796-113C>T - IntronicSNV - 9/15 1
4-113350309-T-C c.800T>C p.L267P Missense 10/16 - 1
4-113350310-G-T c.801G>T p.L267= Synonymous 10/16 - 2
4-113350311-C-T c.802C>T p.L268= Synonymous 10/16 - 2
4-113350317-G-A c.808G>A p.E270K Missense 10/16 - 1
4-113350323-G-A c.814G>A p.D272N Missense 10/16 - 1
4-113350323-G-T c.814G>T p.D272Y Missense 10/16 - 1
4-113350325-C-A c.816C>A p.D272E Missense 10/16 - 5
4-113350325-C-G c.816C>G p.D272E Missense 10/16 - 1
4-113350326-C-T c.817C>T p.H273Y Missense 10/16 - 1
4-113350334-G-C c.825G>C p.L275F Missense 10/16 - 1
4-113350334-G-T c.825G>T p.L275F Missense 10/16 - 1
4-113350338-T-C c.829T>C p.S277P Missense 10/16 - 1
4-113350338-T-G c.829T>G p.S277A Missense 10/16 - 1
4-113350342-C-G c.833C>G p.A278G Missense 10/16 - 2
4-113350342-C-T c.833C>T p.A278V Missense 10/16 - 1
4-113350350-G-A c.841G>A p.A281T Missense 10/16 - 1
4-113350351-C-G c.842C>G p.A281G Missense 10/16 - 4
4-113350359-CTG-TTT c.850_852delinsTTT p.L284F Missense 10/16 - 2
4-113350360-T-C c.851T>C p.L284P Missense 10/16 - 1
4-113350368-G-A c.859G>A p.A287T Missense 10/16 - 1
4-113350370-C-A c.861C>A p.A287= Synonymous 10/16 - 1
4-113350370-C-T c.861C>T p.A287= Synonymous 10/16 - 1
4-113350375-G-T c.866G>T p.S289I Missense 10/16 - 1
4-113350377-G-A c.868G>A p.A290T Missense 10/16 - 1
4-113350379-C-A c.870C>A p.A290= Synonymous 10/16 - 1
4-113350379-C-G c.870C>G p.A290= Synonymous 10/16 - 1
4-113350379-C-T c.870C>T p.A290= Synonymous 10/16 - 1
4-113350384-C-A c.875C>A p.T292K Missense 10/16 - 1
4-113350384-C-T c.875C>T p.T292M Missense 10/16 - 7
4-113350386-C-A c.877C>A p.P293T Missense 10/16 - 1
4-113350386-C-T c.877C>T p.P293S Missense 10/16 - 1
4-113350387-C-T c.878C>T p.P293L Missense 10/16 - 2
4-113350388-G-A c.879G>A p.P293= Synonymous 10/16 - 1
4-113350388-G-T c.879G>T p.P293= Synonymous 10/16 - 1
4-113350389-C-T c.880C>T p.L294F Missense 10/16 - 1
4-113350391-C-A c.882C>A p.L294= Synonymous 10/16 - 2
4-113350391-C-G c.882C>G p.L294= Synonymous 10/16 - 1
4-113350391-C-T c.882C>T p.L294= Synonymous 10/16 - 2
4-113350393-T-G c.884T>G p.F295C Missense 10/16 - 1
4-113350395-G-A c.886G>A p.V296M Missense 10/16 - 2
4-113350400-TC-T c.891del p.T298Qfs*3 Frameshift 10/16 - 1
4-113350404-G-A c.895G>A p.A299T Missense 10/16 - 1
4-113350405-C-A c.896C>A p.A299D Missense 10/16 - 1
4-113350415-C-T c.900+6C>T - IntronicSNV - 10/15 5
4-113350435-A-AC c.900+31dup - IntronicInsertion - 10/15 1
4-113350498-C-G c.900+89C>G - IntronicSNV - 10/15 1
4-113350525-T-G c.900+116T>G - IntronicSNV - 10/15 1
4-113350665-C-A c.900+256C>A - IntronicSNV - 10/15 1
4-113350731-T-G c.900+322T>G - IntronicSNV - 10/15 1
4-113351521-G-T c.901-83G>T - IntronicSNV - 10/15 2
4-113351610-C-T c.907C>T p.R303C Missense 11/16 - 6
4-113351611-G-A c.908G>A p.R303H Missense 11/16 - 7
4-113351613-G-C c.910G>C p.G304R Missense 11/16 - 1
4-113351613-G-T c.910G>T p.G304C Missense 11/16 - 2
4-113351616-A-T c.913A>T p.T305S Missense 11/16 - 1
4-113351618-G-A c.915G>A p.T305= Synonymous 11/16 - 2
4-113351620-G-T c.917G>T p.C306F Missense 11/16 - 5
4-113351624-A-C c.921A>C p.L307F Missense 11/16 - 1
4-113351637-AG-TT c.934_935delinsTT p.S312F Missense 11/16 - 1
4-113351638-G-A c.935G>A p.S312N Missense 11/16 - 1
4-113351640-T-G c.937T>G p.S313A Missense 11/16 - 1
4-113351644-A-G c.941A>G p.N314S Missense 11/16 - 1
4-113351646-G-T c.943G>T p.D315Y Missense 11/16 - 1
4-113351650-G-A c.947G>A p.C316Y Missense 11/16 - 2
4-113351650-G-C c.947G>C p.C316S Missense 11/16 - 1
4-113351653-C-A c.950C>A p.P317H Missense 11/16 - 1
4-113351658-G-T c.955G>T p.E319* Nonsense 11/16 - 4
4-113351661-T-A c.958T>A p.L320M Missense 11/16 - 3
4-113351667-A-G c.964A>G p.N322D Missense 11/16 - 1
4-113351676-C-G c.973C>G p.L325V Missense 11/16 - 1
4-113351676-C-T c.973C>T p.L325= Synonymous 11/16 - 2
4-113351678-G-A c.975G>A p.L325= Synonymous 11/16 - 4
4-113351678-G-C c.975G>C p.L325= Synonymous 11/16 - 2
4-113351678-G-T c.975G>T p.L325= Synonymous 11/16 - 2
4-113351679-T-A c.976T>A p.C326S Missense 11/16 - 1
4-113351680-G-C c.977G>C p.C326S Missense 11/16 - 1
4-113351683-A-G c.980A>G p.E327G Missense 11/16 - 1
4-113351683-A-T c.980A>T p.E327V Missense 11/16 - 1
4-113351691-G-C c.988G>C p.E330Q Missense 11/16 - 1
4-113351692-AGGCCTTTGAGATTG-A c.991_1004del p.A331Pfs*7 Frameshift 11/16 - 1
4-113351694-G-A c.991G>A p.A331T Missense 11/16 - 2
4-113351697-T-A c.994T>A p.F332I Missense 11/16 - 1
4-113351700-G-C c.997G>C p.E333Q Missense 11/16 - 2
4-113351707-G-A c.1004G>A p.G335D Missense 11/16 - 1
4-113351711-C-T c.1008C>T p.L336= Synonymous 11/16 - 3
4-113351718-A-G c.1015A>G p.K339E Missense 11/16 - 2
4-113351721-AGA-CAT c.1018_1020delinsCAT p.R340H Missense 11/16 - 1
4-113351727-G-C c.1024G>C p.D342H Missense 11/16 - 1
4-113351728-A-G c.1025A>G p.D342G Missense 11/16 - 1
4-113351729-T-A c.1026T>A p.D342E Missense 11/16 - 1
4-113351730-G-A c.1027G>A p.E343K Missense 11/16 - 1
4-113351734-C-A c.1031C>A p.P344H Missense 11/16 - 1
4-113351737-T-C c.1034T>C p.V345A Missense 11/16 - 1
4-113351748-C-T c.1045C>T p.Q349* Nonsense 11/16 - 1
4-113351750-G-T c.1047G>T p.Q349H Missense 11/16 - 1
4-113351751-G-C c.1048G>C p.E350Q Missense 11/16 - 1
4-113351751-G-T c.1048G>T p.E350* Nonsense 11/16 - 1
4-113351752-A-T c.1049A>T p.E350V Missense 11/16 - 1
4-113351753-G-A c.1050G>A p.E350= Synonymous 11/16 - 1
4-113351767-T-A c.1064T>A p.V355D Missense 11/16 - 1
4-113351767-T-C c.1064T>C p.V355A Missense 11/16 - 2
4-113351772-G-A c.1069G>A p.A357T Missense 11/16 - 1
4-113351774-T-A c.1071T>A p.A357= Synonymous 11/16 - 1
4-113351774-T-C c.1071T>C p.A357= Synonymous 11/16 - 1
4-113351774-T-G c.1071T>G p.A357= Synonymous 11/16 - 1
4-113351775-G-T c.1072G>T p.A358S Missense 11/16 - 1
4-113351790-A-G c.1087A>G p.T363A Missense 11/16 - 1
4-113351802-AG-TA c.1099_1100delinsTA p.R367* Nonsense 11/16 - 2
4-113351808-C-T c.1105C>T p.H369Y Missense 11/16 - 3
4-113351813-G-A c.1110G>A p.G370= Synonymous 11/16 - 2
4-113351810-T-TG c.1111dup p.E371Gfs*13 Frameshift 11/16 - 1
4-113351818-C-G c.1115C>G p.T372R Missense 11/16 - 1
4-113351820-G-A c.1117G>A p.G373R Missense 11/16 - 1
4-113351820-G-C c.1117G>C p.G373R Missense 11/16 - 1
4-113351822-G-A c.1119G>A p.G373= Synonymous 11/16 - 5
4-113351822-G-C c.1119G>C p.G373= Synonymous 11/16 - 1
4-113351822-G-T c.1119G>T p.G373= Synonymous 11/16 - 1
4-113351824-C-T c.1121C>T p.T374M Missense 11/16 - 4
4-113351825-G-A c.1122G>A p.T374= Synonymous 11/16 - 1
4-113351825-G-C c.1122G>C p.T374= Synonymous 11/16 - 1
4-113351826-G-A c.1123G>A p.V375I Missense 11/16 - 1
4-113351828-C-A c.1125C>A p.V375= Synonymous 11/16 - 2
4-113351828-C-G c.1125C>G p.V375= Synonymous 11/16 - 2
4-113351828-C-T c.1125C>T p.V375= Synonymous 11/16 - 4
4-113351836-C-T c.1133C>T p.A378V Missense 11/16 - 1
4-113351839-G-A c.1136G>A p.S379N Missense 11/16 - 1
4-113351848-G-T c.1145G>T p.C382F Missense 11/16 - 2
4-113351850-A-G c.1147A>G p.K383E Missense 11/16 - 9
4-113351855-A-C c.1152A>C p.E384D Missense 11/16 - 1
4-113351855-A-T c.1152A>T p.E384D Missense 11/16 - 1
4-113351861-G-A c.1158G>A p.M386I Missense 11/16 - 1
4-113351860-T-TG c.1161dup p.K388Efs*42 Frameshift 11/16 - 1
4-113351864-G-T c.1161G>T p.G387= Synonymous 11/16 - 1
4-113351867-G-A c.1164G>A p.K388= Synonymous 11/16 - 1
4-113351869-T-G c.1166T>G p.L389R Missense 11/16 - 1
4-113351887-C-T c.1184C>T p.S395F Missense 11/16 - 7
4-113351889-T-C c.1186T>C p.S396P Missense 11/16 - 1
4-113351896-G-A c.1193G>A p.S398N Missense 11/16 - 2
4-113351898-C-T c.1195C>T p.Q399* Nonsense 11/16 - 1
4-113351901-G-A c.1198G>A p.D400N Missense 11/16 - 2
4-113351905-G-A c.1202G>A p.R401K Missense 11/16 - 1
4-113351905-G-C c.1202G>C p.R401T Missense 11/16 - 1
4-113351910-G-A c.1207G>A p.A403T Missense 11/16 - 1
4-113351910-G-C c.1207G>C p.A403P Missense 11/16 - 1
4-113351914-T-C c.1211T>C p.L404P Missense 11/16 - 1
4-113351929-T-A c.1226T>A p.M409K Missense 11/16 - 1
4-113351931-T-A c.1228T>A p.S410T Missense 11/16 - 2
4-113351937-GA-G c.1234del p.I412Lfs*4 Frameshift 11/16 - 2
4-113351940-G-A c.1237G>A p.A413T Missense 11/16 - 2
4-113351941-C-T c.1238C>T p.A413V Missense 11/16 - 1
4-113351951-G-T c.1248G>T p.K416N Missense 11/16 - 1
4-113351952-G-A c.1249G>A p.E417K Missense 11/16 - 1
4-113351952-G-T c.1249G>T p.E417* Nonsense 11/16 - 1
4-113351964-G-A c.1261G>A p.V421I Missense 11/16 - 2
4-113351985-G-C c.1282G>C p.D428H Missense 11/16 - 7
4-113351990-C-T c.1287C>T p.D429= Synonymous 11/16 - 1
4-113351991-AGA-CAT c.1288_1290delinsCAT p.R430H Missense 11/16 - 1
4-113351992-G-T c.1289G>T p.R430I Missense 11/16 - 2
4-113352003-C-T c.1300C>T p.P434S Missense 11/16 - 1
4-113352004-C-T c.1301C>T p.P434L Missense 11/16 - 5
4-113352006-G-A c.1303G>A p.E435K Missense 11/16 - 1
4-113352006-G-T c.1303G>T p.E435* Nonsense 11/16 - 1
4-113352008-G-A c.1305G>A p.E435= Synonymous 11/16 - 1
4-113352013-T-C c.1310T>C p.F437S Missense 11/16 - 1
4-113352014-C-T c.1311C>T p.F437= Synonymous 11/16 - 1
4-113352015-G-A c.1312G>A p.E438K Missense 11/16 - 3
4-113352017-G-A c.1314G>A p.E438= Synonymous 11/16 - 1
4-113352018-TG-AC c.1315_1316delinsAC p.C439T Missense 11/16 - 1
4-113352021-AGG-TGT c.1318_1320delinsTGT p.R440C Missense 11/16 - 1
4-113352026-G-C c.1323G>C p.L441F Missense 11/16 - 1
4-113352026-G-T c.1323G>T p.L441F Missense 11/16 - 1
4-113352034-T-G c.1331T>G p.L444R Missense 11/16 - 1
4-113352042-C-T c.1339C>T p.H447Y Missense 11/16 - 1
4-113352044-T-C c.1341T>C p.H447= Synonymous 11/16 - 1
4-113352047-G-A c.1344G>A p.G448= Synonymous 11/16 - 2
4-113352047-G-C c.1344G>C p.G448= Synonymous 11/16 - 2
4-113352047-G-T c.1344G>T p.G448= Synonymous 11/16 - 2
4-113352049-A-C c.1346A>C p.Q449P Missense 11/16 - 1
4-113352053-G-T c.1350G>T p.G450= Synonymous 11/16 - 1
4-113352060-C-G c.1357C>G p.Q453E Missense 11/16 - 2
4-113352066-A-T c.1363A>T p.I455F Missense 11/16 - 1
4-113352068-C-T c.1365C>T p.I455= Synonymous 11/16 - 1
4-113352069-C-T c.1366C>T p.L456F Missense 11/16 - 4
4-113352069-CT-C c.1368del p.D457Tfs*37 Frameshift 11/16 - 1
4-113352074-C-A c.1371C>A p.D457E Missense 11/16 - 1
4-113352074-C-G c.1371C>G p.D457E Missense 11/16 - 1
4-113352075-A-G c.1372A>G p.T458A Missense 11/16 - 7
4-113352084-C-T c.1381C>T p.Q461* Nonsense 11/16 - 1
4-113352085-A-T c.1382A>T p.Q461L Missense 11/16 - 3
4-113352089-C-T c.1386C>T p.H462= Synonymous 11/16 - 2
4-113352090-C-T c.1387C>T p.H463Y Missense 11/16 - 2
4-113352092-T-C c.1389T>C p.H463= Synonymous 11/16 - 3
4-113352097-C-T c.1394C>T p.S465L Missense 11/16 - 4
4-113352098-G-A c.1395G>A p.S465= Synonymous 11/16 - 1
4-113352098-G-C c.1395G>C p.S465= Synonymous 11/16 - 1
4-113352098-G-T c.1395G>T p.S465= Synonymous 11/16 - 1
4-113352103-G-T c.1400G>T p.C467F Missense 11/16 - 4
4-113352126-G-A c.1423G>A p.G475R Missense 11/16 - 1
4-113352126-G-C c.1423G>C p.G475R Missense 11/16 - 1
4-113352141-G-A c.1438G>A p.E480K Missense 11/16 - 1
4-113352145-A-G c.1442A>G p.Q481R Missense 11/16 - 1
4-113352146-G-A c.1443G>A p.Q481= Synonymous 11/16 - 1
4-113352150-G-A c.1447G>A p.D483N Missense 11/16 - 2
4-113352157-A-T c.1454A>T p.K485I Missense 11/16 - 1
4-113352162-G-A c.1459G>A p.G487R Missense 11/16 - 2
4-113352162-G-C c.1459G>C p.G487R Missense 11/16 - 1
4-113352163-G-A c.1460G>A p.G487E Missense 11/16 - 2
4-113352163-GA-AC c.1460_1461delinsAC p.G487D Missense 11/16 - 17
4-113352164-A-G c.1461A>G p.G487= Synonymous 11/16 - 1
4-113352170-C-T c.1467C>T p.C489= Synonymous 11/16 - 1
4-113352177-G-T c.1474G>T p.A492S Missense 11/16 - 1
4-113352178-C-T c.1475C>T p.A492V Missense 11/16 - 1
4-113352187-CAG-C c.1486_1487del p.E496Nfs*29 Frameshift 11/16 - 1
4-113352189-G-T c.1486G>T p.E496* Nonsense 11/16 - 3
4-113352190-A-G c.1487A>G p.E496G Missense 11/16 - 1
4-113352214-G-A c.1511G>A p.S504N Missense 11/16 - 1
4-113352218-T-C c.1515T>C p.T505= Synonymous 11/16 - 1
4-113352225-G-C c.1522G>C p.E508Q Missense 11/16 - 3
4-113352225-G-GA c.1526dup p.P510Afs*16 Frameshift 11/16 - 1
4-113352234-C-T c.1531C>T p.H511Y Missense 11/16 - 3
4-113352236-T-C c.1533T>C p.H511= Synonymous 11/16 - 1
4-113352240-C-G c.1537C>G p.Q513E Missense 11/16 - 2
4-113352246-G-C c.1543G>C p.D515H Missense 11/16 - 1
4-113352247-A-T c.1544A>T p.D515V Missense 11/16 - 1
4-113352249-A-G c.1546A>G p.T516A Missense 11/16 - 1
4-113352252-G-A c.1549G>A p.G517R Missense 11/16 - 3
4-113352252-G-C c.1549G>C p.G517R Missense 11/16 - 2
4-113352255-A-C c.1552A>C p.I518L Missense 11/16 - 1
4-113352255-A-T c.1552A>T p.I518L Missense 11/16 - 1
4-113352259-C-T c.1556C>T p.S519F Missense 11/16 - 1
4-113352262-C-T c.1559C>T p.S520F Missense 11/16 - 2
4-113352263-C-T c.1560C>T p.S520= Synonymous 11/16 - 1
4-113352265-C-T c.1562C>T p.S521F Missense 11/16 - 1
4-113352267-CCTA-C c.1564_1566del p.L522del InFrameDeletion 11/16 - 1
4-113352272-G-A c.1569G>A p.M523I Missense 11/16 - 4
4-113352272-G-C c.1569G>C p.M523I Missense 11/16 - 1
4-113352272-G-T c.1569G>T p.M523I Missense 11/16 - 1
4-113352274-G-C c.1571G>C p.G524A UnclassifiedSNV 11/16 - 2
4-113352278-G-A c.1575G>A p.K525= Synonymous 11/16 - 1
4-113352282-GTT-ATG c.1579_1581delinsATG p.V527M Missense 11/16 - 1
4-113352285-C-T c.1582C>T p.Q528* Nonsense 11/16 - 1
4-113352296-C-G c.1593C>G p.L531= Synonymous 11/16 - 2
4-113352297-AGA-TGT c.1594_1596delinsTGT p.R532C Missense 11/16 - 1
4-113352304-G-T c.1601G>T p.G534V Missense 11/16 - 1
4-113352306-G-A c.1603G>A p.G535R Missense 11/16 - 2
4-113352306-G-C c.1603G>C p.G535R Missense 11/16 - 1
4-113352308-A-AT c.1605_1606insT p.R536* Nonsense 11/16 - 1
4-113352311-G-A c.1608G>A p.R536= Synonymous 11/16 - 1
4-113352312-AGA-TGT c.1609_1611delinsTGT p.R537C Missense 11/16 - 1
4-113352316-A-G c.1613A>G p.N538S Missense 11/16 - 1
4-113352319-G-A c.1616G>A p.W539* Nonsense 11/16 - 1
4-113352323-C-A c.1620C>A p.T540= Synonymous 11/16 - 1
4-113352324-C-T c.1621C>T p.H541Y Missense 11/16 - 2
4-113352328-CT-AA c.1625_1626delinsAA p.S542* Nonsense 11/16 - 1
4-113352334-C-T c.1631C>T p.A544V Missense 11/16 - 1
4-113352339-CGA-TGT c.1636_1638delinsTGT p.R546C Missense 11/16 - 1
4-113352339-C-T c.1636C>T p.R546* Nonsense 11/16 - 5
4-113352340-G-A c.1637G>A p.R546Q Missense 11/16 - 1
4-113352343-T-A c.1640T>A p.V547D Missense 11/16 - 1
4-113352351-G-A c.1648G>A p.D550N Missense 11/16 - 3
4-113352354-C-T c.1651C>T p.Q551* Nonsense 11/16 - 6
4-113352357-G-A c.1654G>A p.D552N Missense 11/16 - 1
4-113352368-T-C c.1665T>C p.T555= Synonymous 11/16 - 1
4-113352369-G-A c.1666G>A p.E556K Missense 11/16 - 1
4-113352378-C-T c.1675C>T p.P559S Missense 11/16 - 1
4-113352384-G-T c.1681G>T p.D561Y Missense 11/16 - 2
4-113352394-A-G c.1691A>G p.N564S Missense 11/16 - 2
4-113352397-G-A c.1694G>A p.G565D Missense 11/16 - 46
4-113352398-T-A c.1695T>A p.G565= Synonymous 11/16 - 1
4-113352398-T-C c.1695T>C p.G565= Synonymous 11/16 - 1
4-113352398-T-G c.1695T>G p.G565= Synonymous 11/16 - 1
4-113352403-G-A c.1700G>A p.G567E Missense 11/16 - 1
4-113352403-G-T c.1700G>T p.G567V Missense 11/16 - 1
4-113352413-C-T c.1710C>T p.F570= Synonymous 11/16 - 2
4-113352425-G-T c.1722G>T p.L574= Synonymous 11/16 - 1
4-113352434-C-A c.1731C>A p.S577R Missense 11/16 - 1
4-113352437-G-C c.1734G>C p.Q578H Missense 11/16 - 1
4-113352437-G-T c.1734G>T p.Q578H Missense 11/16 - 1
4-113352444-AG-GC c.1741_1742delinsGC p.S581A Missense 11/16 - 1
4-113352447-G-A c.1744G>A p.A582T Missense 11/16 - 1
4-113352448-C-T c.1745C>T p.A582V Missense 11/16 - 1
4-113352453-A-T c.1750A>T p.S584C Missense 11/16 - 1
4-113352455-C-T c.1752C>T p.S584= Synonymous 11/16 - 1
4-113352457-A-G c.1754A>G p.N585S Missense 11/16 - 6
4-113352460-T-C c.1757T>C p.L586S Missense 11/16 - 1
4-113352466-G-C c.1763G>C p.G588A Missense 11/16 - 1
4-113352473-T-C c.1770T>C p.S590= Synonymous 11/16 - 1
4-113352475-C-T c.1772C>T p.S591F Missense 11/16 - 5
4-113352476-C-A c.1773C>A p.S591= Synonymous 11/16 - 2
4-113352476-C-G c.1773C>G p.S591= Synonymous 11/16 - 3
4-113352476-C-T c.1773C>T p.S591= Synonymous 11/16 - 2
4-113352483-A-G c.1780A>G p.S594G Missense 11/16 - 2
4-113352483-AG-GA c.1780_1781delinsGA p.S594D Missense 11/16 - 1
4-113352488-G-A c.1785G>A p.W595* Nonsense 11/16 - 3
4-113352488-G-C c.1785G>C p.W595C Missense 11/16 - 2
4-113352492-G-T c.1789G>T p.E597* Nonsense 11/16 - 1
4-113352495-G-A c.1792G>A p.V598M Missense 11/16 - 1
4-113352499-A-G c.1796A>G p.N599S Missense 11/16 - 1
4-113352502-A-T c.1799A>T p.Y600F Missense 11/16 - 1
4-113352506-C-T c.1803C>T p.H601= Synonymous 11/16 - 2
4-113352507-G-A c.1804G>A p.V602I Missense 11/16 - 2
4-113352513-G-A c.1810G>A p.D604N Missense 11/16 - 4
4-113352517-G-T c.1814G>T p.R605M Missense 11/16 - 2
4-113352526-G-T c.1823G>T p.R608I Missense 11/16 - 1
4-113352530-A-G c.1827A>G p.K609= Synonymous 11/16 - 1
4-113352536-T-A c.1833T>A p.P611= Synonymous 11/16 - 1
4-113352536-T-C c.1833T>C p.P611= Synonymous 11/16 - 1
4-113352536-T-G c.1833T>G p.P611= Synonymous 11/16 - 1
4-113352538-G-A c.1835G>A p.G612D Missense 11/16 - 1
4-113352538-G-T c.1835G>T p.G612V Missense 11/16 - 1
4-113352545-A-C c.1842A>C p.E614D Missense 11/16 - 1
4-113352545-A-T c.1842A>T p.E614D Missense 11/16 - 1
4-113352547-A-G c.1844A>G p.H615R Missense 11/16 - 1
4-113352552-G-A c.1849G>A p.V617M Missense 11/16 - 1
4-113352554-G-A c.1851G>A p.V617= Synonymous 11/16 - 1
4-113352563-G-A c.1860G>A p.Q620= Synonymous 11/16 - 1
4-113352565-G-A c.1862G>A p.C621Y Missense 11/16 - 1
4-113352568-C-T c.1865C>T p.S622F Missense 11/16 - 1
4-113352582-G-A c.1879G>A p.E627K Missense 11/16 - 1
4-113352584-G-C c.1881G>C p.E627D Missense 11/16 - 1
4-113352584-G-T c.1881G>T p.E627D Missense 11/16 - 1
4-113352587-G-T c.1884G>T p.E628D Missense 11/16 - 1
4-113352588-CTA-TTT c.1885_1887delinsTTT p.L629F Missense 11/16 - 1
4-113352591-G-A c.1888G>A p.E630K Missense 11/16 - 1
4-113352592-A-G c.1889A>G p.E630G Missense 11/16 - 1
4-113352600-A-G c.1897A>G p.R633G Missense 11/16 - 1
4-113352607-GC-AG c.1904_1905delinsAG p.G635E Missense 11/16 - 1
4-113352609-A-T c.1906A>T p.R636* Nonsense 11/16 - 2
4-113352616-T-C c.1913T>C p.M638T Missense 11/16 - 2
4-113352628-A-G c.1925A>G p.H642R Missense 11/16 - 37
4-113352629-T-C c.1926T>C p.H642= Synonymous 11/16 - 1
4-113352650-T-A c.1947T>A p.S649= Synonymous 11/16 - 1
4-113352650-T-C c.1947T>C p.S649= Synonymous 11/16 - 1
4-113352650-T-G c.1947T>G p.S649= Synonymous 11/16 - 1
4-113352651-C-A c.1948C>A p.L650I Missense 11/16 - 1
4-113352651-C-T c.1948C>T p.L650F Missense 11/16 - 1
4-113352657-G-A c.1954G>A p.E652K Missense 11/16 - 3
4-113352665-C-A c.1962C>A p.N654K Missense 11/16 - 1
4-113352665-C-G c.1962C>G p.N654K Missense 11/16 - 1
4-113352674-T-C c.1971T>C p.N657= Synonymous 11/16 - 1
4-113352680-G-C c.1977G>C p.E659D Missense 11/16 - 1
4-113352682-C-T c.1979C>T p.P660L Missense 11/16 - 8
4-113352687-C-G c.1984C>G p.Q662E Missense 11/16 - 1
4-113352694-A-C c.1991A>C p.Q664P Missense 11/16 - 1
4-113352696-C-T c.1993C>T p.P665S Missense 11/16 - 1
4-113352699-C-G c.1996C>G p.Q666E Missense 11/16 - 1
4-113352701-G-T c.1998G>T p.Q666H Missense 11/16 - 1
4-113352711-C-T c.2008C>T p.P670S Missense 11/16 - 4
4-113352716-G-C c.2013G>C p.L671F Missense 11/16 - 1
4-113352716-G-T c.2013G>T p.L671F Missense 11/16 - 1
4-113352721-C-A c.2018C>A p.P673H Missense 11/16 - 3
4-113352725-C-T c.2022C>T p.F674= Synonymous 11/16 - 1
4-113352727-C-T c.2024C>T p.S675L Missense 11/16 - 1
4-113352732-C-G c.2029C>G p.H677D Missense 11/16 - 1
4-113352733-A-G c.2030A>G p.H677R Missense 11/16 - 1
4-113352739-C-T c.2036C>T p.T679I Missense 11/16 - 4
4-113352745-G-A c.2042G>A p.G681D Missense 11/16 - 10
4-113352745-G-C c.2042G>C p.G681A Missense 11/16 - 1
4-113352745-G-T c.2042G>T p.G681V Missense 11/16 - 1
4-113352749-T-A c.2046T>A p.I682= Synonymous 11/16 - 1
4-113352750-T-C c.2047T>C p.F683L Missense 11/16 - 1
4-113352752-C-A c.2049C>A p.F683L Missense 11/16 - 1
4-113352752-C-G c.2049C>G p.F683L Missense 11/16 - 1
4-113352758-C-A c.2055C>A p.A685= Synonymous 11/16 - 1
4-113352758-C-G c.2055C>G p.A685= Synonymous 11/16 - 1
4-113352758-C-T c.2055C>T p.A685= Synonymous 11/16 - 1
4-113352763-G-T c.2060G>T p.G687V Missense 11/16 - 1
4-113352766-C-T c.2063C>T p.A688V Missense 11/16 - 1
4-113352768-G-A c.2065G>A p.G689R Missense 11/16 - 1
4-113352768-G-C c.2065G>C p.G689R Missense 11/16 - 1
4-113352773-T-A c.2070T>A p.L690= Synonymous 11/16 - 1
4-113352773-T-C c.2070T>C p.L690= Synonymous 11/16 - 1
4-113352773-T-G c.2070T>G p.L690= Synonymous 11/16 - 1
4-113352797-C-T c.2094C>T p.I698= Synonymous 11/16 - 1
4-113352808-G-A c.2105G>A p.R702K Missense 11/16 - 2
4-113352814-T-C c.2111T>C p.M704T Missense 11/16 - 2
4-113352815-G-A c.2112G>A p.M704I Missense 11/16 - 1
4-113352815-G-C c.2112G>C p.M704I Missense 11/16 - 1
4-113352815-G-T c.2112G>T p.M704I Missense 11/16 - 1
4-113352818-A-AC c.2118dup p.R707Qfs*19 Frameshift 11/16 - 1
4-113352822-A-C c.2119A>C p.R707= Synonymous 11/16 - 1
4-113352823-G-A c.2120G>A p.R707K Missense 11/16 - 1
4-113352828-A-T c.2125A>T p.T709S Missense 11/16 - 1
4-113352830-T-A c.2127T>A p.T709= Synonymous 11/16 - 1
4-113352830-T-C c.2127T>C p.T709= Synonymous 11/16 - 1
4-113352830-T-G c.2127T>G p.T709= Synonymous 11/16 - 1
4-113352832-C-T c.2129C>T p.S710F Missense 11/16 - 8
4-113352842-C-A c.2139C>A p.S713= Synonymous 11/16 - 1
4-113352842-C-G c.2139C>G p.S713= Synonymous 11/16 - 1
4-113352842-C-T c.2139C>T p.S713= Synonymous 11/16 - 1
4-113352843-AGA-CAT c.2140_2142delinsCAT p.R714H Missense 11/16 - 1
4-113352847-C-T c.2144C>T p.P715L Missense 11/16 - 1
4-113352854-T-C c.2151T>C p.Y717= Synonymous 11/16 - 1
4-113352855-C-T c.2152C>T p.R718C Missense 11/16 - 8
4-113352856-G-A c.2153G>A p.R718H Missense 11/16 - 2
4-113352865-C-G c.2162C>G p.S721C Missense 11/16 - 2
4-113352870-T-A c.2167T>A p.S723T Missense 11/16 - 1
4-113352875-T-A c.2172T>A p.S724= Synonymous 11/16 - 1
4-113352875-T-C c.2172T>C p.S724= Synonymous 11/16 - 1
4-113352875-T-G c.2172T>G p.S724= Synonymous 11/16 - 1
4-113352877-A-G c.2174A>G p.D725G Missense 11/16 - 1
4-113352880-C-G c.2177C>G p.S726C Missense 11/16 - 1
4-113352880-C-T c.2177C>T p.S726F Missense 11/16 - 1
4-113352885-AG-TA c.2182_2183delinsTA p.R728* Nonsense 11/16 - 1
4-113352887-G-C c.2184G>C p.R728S Missense 11/16 - 1
4-113352887-G-T c.2184G>T p.R728S Missense 11/16 - 1
4-113352892-A-G c.2189A>G p.K730R Missense 11/16 - 1
4-113352893-G-A c.2190G>A p.K730= Synonymous 11/16 - 1
4-113352899-G-A c.2196G>A p.M732I Missense 11/16 - 43
4-113352899-G-C c.2196G>C p.M732I Missense 11/16 - 23
4-113352899-G-T c.2196G>T p.M732I Missense 11/16 - 7
4-113352904-CA-TG c.2201_2202inv p.T734M Missense 11/16 - 1
4-113352908-T-A c.2205T>A p.H735Q Missense 11/16 - 1
4-113352908-T-G c.2205T>G p.H735Q Missense 11/16 - 1
4-113352909-C-T c.2206C>T p.P736S Missense 11/16 - 4
4-113352910-C-T c.2207C>T p.P736L Missense 11/16 - 4
4-113352915-G-A c.2212G>A p.V738I Missense 11/16 - 1
4-113352916-T-C c.2213T>C p.V738A Missense 11/16 - 2
4-113352917-C-A c.2214C>A p.V738= Synonymous 11/16 - 1
4-113352917-C-G c.2214C>G p.V738= Synonymous 11/16 - 1
4-113352917-C-T c.2214C>T p.V738= Synonymous 11/16 - 1
4-113352921-A-G c.2218A>G p.K740E Missense 11/16 - 1
4-113352922-A-T c.2219A>T p.K740I Missense 11/16 - 1
4-113352918-CA-C c.2220del p.E741Kfs*6 Frameshift 11/16 - 1
4-113352924-G-A c.2221G>A p.E741K Missense 11/16 - 2
4-113352932-C-A c.2229C>A p.A743= Synonymous 11/16 - 1
4-113352932-C-G c.2229C>G p.A743= Synonymous 11/16 - 1
4-113352932-C-T c.2229C>T p.A743= Synonymous 11/16 - 1
4-113352934-T-C c.2231T>C p.F744S Missense 11/16 - 2
4-113352936-G-A c.2233G>A p.E745K Missense 11/16 - 3
4-113352936-G-C c.2233G>C p.E745Q Missense 11/16 - 1
4-113352943-T-G c.2240T>G p.I747S Missense 11/16 - 1
4-113352944-T-A c.2241T>A p.I747= Synonymous 11/16 - 1
4-113352944-T-C c.2241T>C p.I747= Synonymous 11/16 - 1
4-113352954-C-G c.2251C>G p.P751A Missense 11/16 - 1
4-113352954-C-T c.2251C>T p.P751S Missense 11/16 - 3
4-113352955-C-T c.2252C>T p.P751L Missense 11/16 - 1
4-113352957-G-A c.2254G>A p.E752K Missense 11/16 - 1
4-113352959-A-C c.2256A>C p.E752D Missense 11/16 - 1
4-113352959-A-T c.2256A>T p.E752D Missense 11/16 - 1
4-113352962-C-A c.2259C>A p.T753= Synonymous 11/16 - 1
4-113352962-C-G c.2259C>G p.T753= Synonymous 11/16 - 1
4-113352962-C-T c.2259C>T p.T753= Synonymous 11/16 - 1
4-113352964-A-G c.2261A>G p.N754S Missense 11/16 - 2
4-113352967-G-C c.2264G>C p.C755S Missense 11/16 - 1
4-113352968-C-A c.2265C>A p.C755* Nonsense 11/16 - 1
4-113352968-C-T c.2265C>T p.C755= Synonymous 11/16 - 3
4-113352969-G-A c.2266G>A p.D756N Missense 11/16 - 4
4-113352974-C-G c.2271C>G p.V757= Synonymous 11/16 - 2
4-113352981-A-G c.2278A>G p.R760G Missense 11/16 - 1
4-113352981-AG-A c.2280del p.R760Sfs*41 Frameshift 11/16 - 1
4-113352986-G-A c.2283G>A p.Q761= Synonymous 11/16 - 2
4-113352988-G-T c.2285G>T p.G762V Missense 11/16 - 1
4-113352991-A-C c.2288A>C p.K763T Missense 11/16 - 1
4-113352995-G-A c.2292G>A p.E764= Synonymous 11/16 - 2
4-113352998-G-C c.2295G>C p.Q765H Missense 11/16 - 1
4-113352998-G-T c.2295G>T p.Q765H Missense 11/16 - 1
4-113352999-G-A c.2296G>A p.G766R Missense 11/16 - 2
4-113353000-G-T c.2297G>T p.G766V Missense 11/16 - 1
4-113353010-T-G c.2307T>G p.I769M Missense 11/16 - 1
4-113353012-G-A c.2309G>A p.S770N Missense 11/16 - 1
4-113353022-C-A c.2319C>A p.G773= Synonymous 11/16 - 2
4-113353022-C-G c.2319C>G p.G773= Synonymous 11/16 - 1
4-113353022-C-T c.2319C>T p.G773= Synonymous 11/16 - 3
4-113353023-G-A c.2320G>A p.A774T Missense 11/16 - 2
4-113353023-G-T c.2320G>T p.A774S Missense 11/16 - 1
4-113353041-G-C c.2338G>C p.A780P Missense 11/16 - 1
4-113353047-C-T c.2344C>T p.P782S Missense 11/16 - 7
4-113353048-C-T c.2345C>T p.P782L Missense 11/16 - 1
4-113353049-C-A c.2346C>A p.P782= Synonymous 11/16 - 1
4-113353052-C-T c.2349C>T p.S783= Synonymous 11/16 - 5
4-113353059-G-A c.2356G>A p.D786N Missense 11/16 - 2
4-113353061-C-G c.2358C>G p.D786E Missense 11/16 - 1
4-113353063-C-A c.2360C>A p.P787Q Missense 11/16 - 1
4-113353064-A-T c.2361A>T p.P787= Synonymous 11/16 - 2
4-113353066-A-G c.2363A>G p.E788G Missense 11/16 - 3
4-113353080-G-A c.2377G>A p.E793K Missense 11/16 - 2
4-113353089-G-A c.2386G>A p.E796K Missense 11/16 - 2
4-113353097-AC-A c.2397del p.L800* Frameshift 11/16 - 1
4-113353101-T-TAA c.2398_2399insAA p.L800* Nonsense 11/16 - 1
4-113353102-T-A c.2399T>A p.L800* Nonsense 11/16 - 1
4-113353102-T-G c.2399T>G p.L800* Nonsense 11/16 - 1
4-113353113-AG-CA c.2410_2411delinsCA p.R804Q Missense 11/16 - 1
4-113353115-G-A c.2412G>A p.R804= Synonymous 11/16 - 1
4-113353115-G-C c.2412G>C p.R804S Missense 11/16 - 1
4-113353115-G-T c.2412G>T p.R804S Missense 11/16 - 1
4-113353117-T-C c.2414T>C p.V805A Missense 11/16 - 1
4-113353119-C-T c.2416C>T p.L806= Synonymous 11/16 - 2
4-113353121-G-A c.2418G>A p.L806= Synonymous 11/16 - 1
4-113353121-G-C c.2418G>C p.L806= Synonymous 11/16 - 1
4-113353121-G-T c.2418G>T p.L806= Synonymous 11/16 - 1
4-113353125-A-C c.2422A>C p.N808H Missense 11/16 - 1
4-113353135-G-A c.2432G>A p.G811E Missense 11/16 - 1
4-113353138-A-G c.2435A>G p.N812S Missense 11/16 - 2
4-113353141-T-C c.2438T>C p.I813T Missense 11/16 - 1
4-113353153-C-T c.2450C>T p.P817L Missense 11/16 - 1
4-113353156-G-A c.2453G>A p.C818Y Missense 11/16 - 1
4-113353158-AG-TT c.2455_2456delinsTT p.S819F Missense 11/16 - 1
4-113353161-T-A c.2458T>A p.S820T Missense 11/16 - 2
4-113353162-C-T c.2459C>T p.S820F Missense 11/16 - 1
4-113353163-C-A c.2460C>A p.S820= Synonymous 11/16 - 1
4-113353166-C-T c.2463C>T p.F821= Synonymous 11/16 - 3
4-113353170-C-T c.2467C>T p.P823S Missense 11/16 - 4
4-113353171-C-T c.2468C>T p.P823L Missense 11/16 - 1
4-113353172-T-A c.2469T>A p.P823= Synonymous 11/16 - 1
4-113353172-T-C c.2469T>C p.P823= Synonymous 11/16 - 1
4-113353172-T-G c.2469T>G p.P823= Synonymous 11/16 - 1
4-113353175-T-C c.2472T>C p.N824= Synonymous 11/16 - 1
4-113353183-T-C c.2480T>C p.V827A Missense 11/16 - 1
4-113353191-C-T c.2488C>T p.P830S Missense 11/16 - 4
4-113353192-C-A c.2489C>A p.P830H Missense 11/16 - 4
4-113353192-C-T c.2489C>T p.P830L Missense 11/16 - 5
4-113353194-G-T c.2491G>T p.D831Y Missense 11/16 - 1
4-113353197-T-A c.2494T>A p.S832T Missense 11/16 - 3
4-113353198-C-A c.2495C>A p.S832Y Missense 11/16 - 3
4-113353198-C-T c.2495C>T p.S832F Missense 11/16 - 2
4-113353199-C-T c.2496C>T p.S832= Synonymous 11/16 - 1
4-113353201-G-A c.2498G>A p.R833K Missense 11/16 - 2
4-113353201-G-C c.2498G>C p.R833T Missense 11/16 - 1
4-113353207-G-A c.2504G>A p.S835N Missense 11/16 - 2
4-113353213-G-A c.2510G>A p.G837D Missense 11/16 - 1
4-113353216-C-T c.2513C>T p.P838L Missense 11/16 - 1
4-113353229-G-A c.2526G>A p.Q842= Synonymous 11/16 - 1
4-113353229-G-C c.2526G>C p.Q842H Missense 11/16 - 3
4-113353229-G-T c.2526G>T p.Q842H Missense 11/16 - 1
4-113353232-C-A c.2529C>A p.G843= Synonymous 11/16 - 1
4-113353235-C-A c.2532C>A p.I844= Synonymous 11/16 - 1
4-113353235-C-T c.2532C>T p.I844= Synonymous 11/16 - 1
4-113353236-G-C c.2533G>C p.D845H Missense 11/16 - 2
4-113353247-C-T c.2544C>T p.A848= Synonymous 11/16 - 1
4-113353255-T-C c.2552T>C p.V851A Missense 11/16 - 1
4-113353257-G-A c.2554G>A p.D852N Missense 11/16 - 1
4-113353267-G-A c.2564G>A p.G855E Missense 11/16 - 2
4-113353269-C-T c.2566C>T p.Q856* Nonsense 11/16 - 1
4-113353272-C-A c.2569C>A p.L857M Missense 11/16 - 1
4-113353285-T-A c.2582T>A p.M861K Missense 11/16 - 9
4-113353285-T-C c.2582T>C p.M861T Missense 11/16 - 41
4-113353286-G-A c.2583G>A p.M861I Missense 11/16 - 3
4-113353286-G-C c.2583G>C p.M861I Missense 11/16 - 3
4-113353286-G-T c.2583G>T p.M861I Missense 11/16 - 3
4-113353287-G-A c.2584G>A p.D862N Missense 11/16 - 1
4-113353288-ATGT-A c.2587_2589del p.V863del InFrameDeletion 11/16 - 4
4-113353290-G-A c.2587G>A p.V863I Missense 11/16 - 1
4-113353293-C-T c.2590C>T p.P864S Missense 11/16 - 3
4-113353294-C-T c.2591C>T p.P864L Missense 11/16 - 2
4-113353297-G-A c.2594G>A p.C865Y Missense 11/16 - 1
4-113353303-A-G c.2600A>G p.N867S Missense 11/16 - 2
4-113353310-C-T c.2607C>T p.H869= Synonymous 11/16 - 2
4-113353311-G-A c.2608G>A p.G870S Missense 11/16 - 14
4-113353311-G-T c.2608G>T p.G870C Missense 11/16 - 7
4-113353312-G-C c.2609G>C p.G870A Missense 11/16 - 1
4-113353321-G-T c.2618G>T p.R873I Missense 11/16 - 7
4-113353320-A-C c.2617A>C p.R873= Synonymous 11/16 - 1
4-113353322-A-G c.2619A>G p.R873= Synonymous 11/16 - 1
4-113353323-C-T c.2620C>T p.L874= Synonymous 11/16 - 1
4-113353329-A-T c.2626A>T p.I876F Missense 11/16 - 1
4-113353330-T-G c.2627T>G p.I876S Missense 11/16 - 1
4-113353333-T-C c.2630T>C p.L877P Missense 11/16 - 1
4-113353341-C-T c.2638C>T p.P880S Missense 11/16 - 1
4-113353342-C-T c.2639C>T p.P880L Missense 11/16 - 1
4-113353343-G-A c.2640G>A p.P880= Synonymous 11/16 - 1
4-113353344-C-T c.2641C>T p.P881S Missense 11/16 - 2
4-113353354-G-T c.2651G>T p.R884M Missense 11/16 - 4
4-113353357-C-T c.2654C>T p.A885V Missense 11/16 - 9
4-113353358-G-A c.2655G>A p.A885= Synonymous 11/16 - 4
4-113353358-G-C c.2655G>C p.A885= Synonymous 11/16 - 2
4-113353358-G-T c.2655G>T p.A885= Synonymous 11/16 - 2
4-113353359-G-A c.2656G>A p.E886K Missense 11/16 - 2
4-113353361-G-T c.2658G>T p.E886D Missense 11/16 - 1
4-113353367-C-T c.2664C>T p.P888= Synonymous 11/16 - 1
4-113353372-C-T c.2669C>T p.S890F Missense 11/16 - 1
4-113353373-C-T c.2670C>T p.S890= Synonymous 11/16 - 1
4-113353377-G-A c.2674G>A p.V892I Missense 11/16 - 2
4-113353377-GTA-ATG c.2674_2676delinsATG p.V892M Missense 11/16 - 1
4-113353383-G-A c.2680G>A p.G894S Missense 11/16 - 1
4-113353386-A-G c.2683A>G p.N895D Missense 11/16 - 2
4-113353386-A-T c.2683A>T p.N895Y Missense 11/16 - 1
4-113353391-C-T c.2688C>T p.I896= Synonymous 11/16 - 1
4-113353393-T-G c.2690T>G p.L897R Missense 11/16 - 1
4-113353394-C-A c.2691C>A p.L897= Synonymous 11/16 - 1
4-113353394-C-G c.2691C>G p.L897= Synonymous 11/16 - 1
4-113353394-C-T c.2691C>T p.L897= Synonymous 11/16 - 1
4-113353397-C-T c.2694C>T p.F898= Synonymous 11/16 - 4
4-113353403-C-T c.2700C>T p.V900= Synonymous 11/16 - 1
4-113353404-C-A c.2701C>A p.L901I Missense 11/16 - 4
4-113353409-C-T c.2706C>T p.S902= Synonymous 11/16 - 1
4-113353410-G-A c.2707G>A p.E903K Missense 11/16 - 5
4-113353413-G-T c.2710G>T p.D904Y Missense 11/16 - 1
4-113353414-A-T c.2711A>T p.D904V Missense 11/16 - 2
4-113353418-C-T c.2715C>T p.C905= Synonymous 11/16 - 1
4-113353419-A-T c.2716A>T p.T906S Missense 11/16 - 2
4-113353420-C-G c.2717C>G p.T906S Missense 11/16 - 1
4-113353423-C-A c.2720C>A p.T907N Missense 11/16 - 1
4-113353424-C-G c.2721C>G p.T907= Synonymous 11/16 - 1
4-113353426-C-A c.2723C>A p.T908K Missense 11/16 - 2
4-113353430-G-A c.2727G>A p.E909= Synonymous 11/16 - 1
4-113353433-A-C c.2730A>C p.E910D Missense 11/16 - 10
4-113353433-A-G c.2730A>G p.E910= Synonymous 11/16 - 5
4-113353433-A-T c.2730A>T p.E910D Missense 11/16 - 3
4-113353435-G-C c.2732G>C p.G911A Missense 11/16 - 1
4-113353440-C-T c.2737C>T p.Q913* Nonsense 11/16 - 2
4-113353449-A-C c.2746A>C p.N916H Missense 11/16 - 1
4-113353449-A-G c.2746A>G p.N916D Missense 11/16 - 17
4-113353459-A-C c.2756A>C p.N919T Missense 11/16 - 1
4-113353461-TG-AC c.2758_2759delinsAC p.C920T Missense 11/16 - 1
4-113353463-C-T c.2760C>T p.C920= Synonymous 11/16 - 1
4-113353469-G-A c.2766G>A p.Q922= Synonymous 11/16 - 2
4-113353473-T-C c.2770T>C p.S924P Missense 11/16 - 1
4-113353480-C-T c.2777C>T p.S926L Missense 11/16 - 1
4-113353483-C-T c.2780C>T p.S927F Missense 11/16 - 2
4-113353484-C-A c.2781C>A p.S927= Synonymous 11/16 - 1
4-113353484-C-G c.2781C>G p.S927= Synonymous 11/16 - 1
4-113353484-C-T c.2781C>T p.S927= Synonymous 11/16 - 1
4-113353495-G-A c.2792G>A p.W931* Nonsense 11/16 - 1
4-113353496-G-A c.2793G>A p.W931* Nonsense 11/16 - 1
4-113353497-C-T c.2794C>T p.L932= Synonymous 11/16 - 1
4-113353503-T-A c.2800T>A p.S934T Missense 11/16 - 1
4-113353503-T-C c.2800T>C p.S934P Missense 11/16 - 1
4-113353503-TCA-AAC c.2800_2802delinsAAC p.S934N Missense 11/16 - 2
4-113353504-C-A c.2801C>A p.S934* Nonsense 11/16 - 1
4-113353504-C-G c.2801C>G p.S934* Nonsense 11/16 - 1
4-113353506-C-T c.2803C>T p.P935S Missense 11/16 - 1
4-113353507-C-T c.2804C>T p.P935L Missense 11/16 - 2
4-113353510-C-T c.2807C>T p.A936V Missense 11/16 - 2
4-113353511-AT-A c.2812del p.S938Pfs*14 Frameshift 11/16 - 2
4-113353516-C-A c.2813C>A p.S938Y Missense 11/16 - 1
4-113353516-C-T c.2813C>T p.S938F Missense 11/16 - 4
4-113353517-C-A c.2814C>A p.S938= Synonymous 11/16 - 1
4-113353517-C-G c.2814C>G p.S938= Synonymous 11/16 - 1
4-113353517-C-T c.2814C>T p.S938= Synonymous 11/16 - 1
4-113353521-G-T c.2818G>T p.G940C Missense 11/16 - 1
4-113353522-G-T c.2819G>T p.G940V Missense 11/16 - 2
4-113353524-T-G c.2821T>G p.S941A Missense 11/16 - 1
4-113353525-C-G c.2822C>G p.S941C Missense 11/16 - 1
4-113353526-T-TGAAA c.2823_2824insGAAA p.S942Efs*3 Frameshift 11/16 - 1
4-113353522-GTTC-G c.2824_2826del p.S942del InFrameDeletion 11/16 - 10
4-113353533-G-A c.2830G>A p.G944R Missense 11/16 - 1
4-113353533-G-C c.2830G>C p.G944R Missense 11/16 - 1
4-113353534-G-A c.2831G>A p.G944E Missense 11/16 - 1
4-113353540-G-C c.2837G>C p.S946T Missense 11/16 - 1
4-113353541-C-T c.2838C>T p.S946= Synonymous 11/16 - 2
4-113353542-CC-TT c.2839_2840delinsTT p.P947F Missense 11/16 - 3
4-113353542-C-G c.2839C>G p.P947A Missense 11/16 - 1
4-113353542-C-T c.2839C>T p.P947S Missense 11/16 - 2
4-113353543-C-T c.2840C>T p.P947L Missense 11/16 - 1
4-113353546-G-C c.2843G>C p.W948S Missense 11/16 - 1
4-113353560-TC-AA c.2857_2858delinsAA p.S953N Missense 11/16 - 1
4-113353561-C-G c.2858C>G p.S953C Missense 11/16 - 1
4-113353561-C-T c.2858C>T p.S953F Missense 11/16 - 1
4-113353567-G-A c.2864G>A p.G955E Missense 11/16 - 4
4-113353568-G-A c.2865G>A p.G955= Synonymous 11/16 - 1
4-113353568-G-C c.2865G>C p.G955= Synonymous 11/16 - 1
4-113353568-G-T c.2865G>T p.G955= Synonymous 11/16 - 1
4-113353573-C-A c.2870C>A p.S957Y Missense 11/16 - 4
4-113353582-C-T c.2879C>T p.S960L Missense 11/16 - 3
4-113353586-G-C c.2883G>C p.L961F Missense 11/16 - 1
4-113353586-G-T c.2883G>T p.L961F Missense 11/16 - 1
4-113353588-C-T c.2885C>T p.P962L Missense 11/16 - 3
4-113353603-A-G c.2900A>G p.K967R Missense 11/16 - 1
4-113353605-AG-A c.2902del p.E968Rfs*20 Frameshift 11/16 - 1
4-113353610-C-A c.2907C>A p.I969= Synonymous 11/16 - 1
4-113353610-C-G c.2907C>G p.I969M Missense 11/16 - 5
4-113353610-C-T c.2907C>T p.I969= Synonymous 11/16 - 3
4-113353618-C-T c.2915C>T p.A972V Missense 11/16 - 1
4-113353620-C-T c.2917C>T p.R973C Missense 11/16 - 3
4-113353621-G-A c.2918G>A p.R973H Missense 11/16 - 2
4-113353622-C-A c.2919C>A p.R973= Synonymous 11/16 - 1
4-113353622-C-G c.2919C>G p.R973= Synonymous 11/16 - 1
4-113353622-C-T c.2919C>T p.R973= Synonymous 11/16 - 1
4-113353626-T-C c.2923T>C p.L975= Synonymous 11/16 - 1
4-113353656-G-A c.2953G>A p.A985T Missense 11/16 - 1
4-113353659-G-A c.2956G>A p.G986R Missense 11/16 - 1
4-113353659-G-C c.2956G>C p.G986R Missense 11/16 - 1
4-113353662-GT-CC c.2959_2960delinsCC p.V987P Missense 11/16 - 1
4-113353667-G-A c.2964G>A p.R988= Synonymous 11/16 - 1
4-113353672-A-G c.2969A>G p.D990G Missense 11/16 - 1
4-113353674-T-A c.2971T>A p.W991R Missense 11/16 - 2
4-113353674-T-C c.2971T>C p.W991R Missense 11/16 - 5
4-113353679-G-C c.2976G>C p.L992= Synonymous 11/16 - 1
4-113353680-T-C c.2977T>C p.F993L Missense 11/16 - 1
4-113353682-T-G c.2979T>G p.F993L Missense 11/16 - 1
4-113353682-T-A c.2979T>A p.F993L Missense 11/16 - 2
4-113353689-C-G c.2986C>G p.L996V Missense 11/16 - 1
4-113353696-A-AT c.2994dup p.T999Yfs*5 Frameshift 11/16 - 1
4-113353697-T-C c.2994T>C p.N998= Synonymous 11/16 - 1
4-113353699-C-T c.2996C>T p.T999M Missense 11/16 - 1
4-113353701-G-A c.2998G>A p.G1000R Missense 11/16 - 3
4-113353702-G-A c.2999G>A p.G1000E Missense 11/16 - 3
4-113353703-G-A c.3000G>A p.G1000= Synonymous 11/16 - 3
4-113353704-G-GT c.3006dup p.K1003* Nonsense 11/16 - 1
4-113353724-C-A c.3021C>A p.L1007= Synonymous 11/16 - 1
4-113353726-A-C c.3023A>C p.H1008P Missense 11/16 - 2
4-113353727-C-A c.3024C>A p.H1008Q Missense 11/16 - 1
4-113353727-C-G c.3024C>G p.H1008Q Missense 11/16 - 2
4-113353728-C-A c.3025C>A p.R1009= Synonymous 11/16 - 1
4-113353728-C-G c.3025C>G p.R1009G Missense 11/16 - 2
4-113353728-C-T c.3025C>T p.R1009* Nonsense 11/16 - 1
4-113353730-A-C c.3027A>C p.R1009= Synonymous 11/16 - 1
4-113353730-A-G c.3027A>G p.R1009= Synonymous 11/16 - 1
4-113353730-A-T c.3027A>T p.R1009= Synonymous 11/16 - 1
4-113353729-G-A c.3026G>A p.R1009Q Missense 11/16 - 1
4-113353729-G-T c.3026G>T p.R1009L Missense 11/16 - 1
4-113353731-G-A c.3028G>A p.A1010T Missense 11/16 - 4
4-113353731-G-T c.3028G>T p.A1010S Missense 11/16 - 1
4-113353733-A-AATGAAACC c.3030_3031insATGAAACC p.H1011Mfs*9 Frameshift 11/16 - 1
4-113353733-A-C c.3030A>C p.A1010= Synonymous 11/16 - 1
4-113353733-A-G c.3030A>G p.A1010= Synonymous 11/16 - 1
4-113353733-A-T c.3030A>T p.A1010= Synonymous 11/16 - 1
4-113353842-A-C c.3034+105A>C - IntronicSNV - 11/15 4
4-113353842-A-T c.3034+105A>T - IntronicSNV - 11/15 2
4-113354869-G-A c.3034+1132G>A - IntronicSNV - 11/15 1
4-113354869-G-C c.3034+1132G>C - IntronicSNV - 11/15 1
4-113354869-G-T c.3034+1132G>T - IntronicSNV - 11/15 1
4-113355411-G-A c.3035-893G>A - IntronicSNV - 11/15 1
4-113356116-T-C c.3035-188T>C - IntronicSNV - 11/15 1
4-113356259-C-T c.3035-45C>T - IntronicSNV - 11/15 6
4-113356303-G-C c.3035-1G>C - IntronicSNV - 11/15 2
4-113356304-G-A c.3035G>A p.S1012N Missense 12/16 - 1
4-113356306-G-A c.3037G>A p.A1013T Missense 12/16 - 1
4-113356309-C-T c.3040C>T p.L1014F Missense 12/16 - 2
4-113356310-T-C c.3041T>C p.L1014P Missense 12/16 - 1
4-113356326-A-C c.3057A>C p.S1019= Synonymous 12/16 - 2
4-113356326-A-G c.3057A>G p.S1019= Synonymous 12/16 - 1
4-113356326-A-T c.3057A>T p.S1019= Synonymous 12/16 - 1
4-113356328-A-G c.3059A>G p.K1020R Missense 12/16 - 1
4-113356325-CA-C c.3063del p.K1021Nfs*18 Frameshift 12/16 - 3
4-113356325-C-CA c.3063dup p.S1022Ifs*2 Frameshift 12/16 - 1
4-113356333-T-A c.3064T>A p.S1022T Missense 12/16 - 1
4-113356336-G-A c.3067G>A p.E1023K Missense 12/16 - 2
4-113356336-G-T c.3067G>T p.E1023* Nonsense 12/16 - 1
4-113356344-G-A c.3075G>A p.W1025* Nonsense 12/16 - 1
4-113356345-A-T c.3076A>T p.T1026S Missense 12/16 - 1
4-113356346-C-T c.3077C>T p.T1026M Missense 12/16 - 6
4-113356353-G-C c.3084G>C p.Q1028H Missense 12/16 - 1
4-113356353-G-T c.3084G>T p.Q1028H Missense 12/16 - 1
4-113356363-G-A c.3094G>A p.V1032I Missense 12/16 - 1
4-113356368-T-C c.3099T>C p.Y1033= Synonymous 12/16 - 2
4-113356369-T-G c.3100T>G p.L1034V Missense 12/16 - 1
4-113356374-G-A c.3105G>A p.G1035= Synonymous 12/16 - 1
4-113356374-G-C c.3105G>C p.G1035= Synonymous 12/16 - 1
4-113356374-G-T c.3105G>T p.G1035= Synonymous 12/16 - 1
4-113356370-TG-T c.3106del p.D1036Tfs*3 Frameshift 12/16 - 1
4-113356370-T-TG c.3106dup p.D1036Gfs*35 Frameshift 12/16 - 1
4-113356385-C-CTATTTTAGAGGACAAGACAATAAAGGGATGTATCAG c.3117_3118insATTTTAGAGGACAAGACAATAAAGGGATGTATCAGT p.T1039_V1040insILEDKTIKGCIS InFrameInsertion 12/16 - 1
4-113356387-G-A c.3118G>A p.V1040M Missense 12/16 - 1
4-113356393-A-T c.3124A>T p.K1042* Nonsense 12/16 - 2
4-113356397-A-T c.3128A>T p.K1043I Missense 12/16 - 3
4-113356402-AG-CA c.3133_3134delinsCA p.R1045Q Missense 12/16 - 1
4-113356409-G-A c.3140G>A p.R1047K Missense 12/16 - 1
4-113356409-G-T c.3140G>T p.R1047I Missense 12/16 - 2
4-113356422-G-C c.3153G>C p.W1051C Missense 12/16 - 3
4-113356422-G-T c.3153G>T p.W1051C Missense 12/16 - 5
4-113356424-T-C c.3155T>C p.V1052A Missense 12/16 - 3
4-113356429-C-T c.3160C>T p.H1054Y Missense 12/16 - 1
4-113356440-A-C c.3171A>C p.Q1057H Missense 12/16 - 1
4-113356440-A-T c.3171A>T p.Q1057H Missense 12/16 - 1
4-113356441-G-A c.3172G>A p.E1058K Missense 12/16 - 6
4-113356453-G-T c.3184G>T p.G1062W Missense 12/16 - 3
4-113356460-A-G c.3188+3A>G - IntronicSNV - 12/15 1
4-113356495-G-T c.3188+38G>T - IntronicSNV - 12/15 4
4-113356637-C-T c.3188+180C>T - IntronicSNV - 12/15 2
4-113359563-T-C c.3189-77T>C - IntronicSNV - 12/15 1
4-113359605-T-G c.3189-35T>G - IntronicSNV - 12/15 1
4-113359648-G-C c.3197G>C p.G1066A Missense 13/16 - 1
4-113359649-G-A c.3198G>A p.G1066= Synonymous 13/16 - 1
4-113359651-AA-TG c.3200_3201delinsTG p.K1067M Missense 13/16 - 1
4-113359662-G-A c.3211G>A p.E1071K Missense 13/16 - 1
4-113359665-C-T c.3214C>T p.Q1072* Nonsense 13/16 - 1
4-113359665-CAG-C c.3216_3217del p.K1073Gfs*8 Frameshift 13/16 - 1
4-113359667-G-C c.3216G>C p.Q1072H Missense 13/16 - 1
4-113359667-G-T c.3216G>T p.Q1072H Missense 13/16 - 1
4-113359668-GAA-G c.3217_3218del p.K1073Gfs*8 Frameshift 13/16 - 1
4-113359671-G-A c.3220G>A p.G1074R Missense 13/16 - 1
4-113359671-G-C c.3220G>C p.G1074R Missense 13/16 - 1
4-113359676-C-A c.3225C>A p.L1075= Synonymous 13/16 - 2
4-113359676-C-G c.3225C>G p.L1075= Synonymous 13/16 - 2
4-113359676-C-T c.3225C>T p.L1075= Synonymous 13/16 - 2
4-113359678-G-A c.3227G>A p.W1076* Nonsense 13/16 - 1
4-113359679-G-A c.3228G>A p.W1076* Nonsense 13/16 - 1
4-113359684-A-G c.3233A>G p.H1078R Missense 13/16 - 1
4-113359692-GATGTGGAGCGAC-G c.3243_3254del p.D1081_Q1085delinsE MultiAAMissense 13/16 - 1
4-113359701-C-A c.3250C>A p.R1084= Synonymous 13/16 - 4
4-113359701-C-T c.3250C>T p.R1084* Nonsense 13/16 - 1
4-113359703-A-C c.3252A>C p.R1084= Synonymous 13/16 - 4
4-113359703-A-T c.3252A>T p.R1084= Synonymous 13/16 - 19
4-113359702-G-A c.3251G>A p.R1084Q Missense 13/16 - 11
4-113359703-A-G c.3252A>G p.R1084= Synonymous 13/16 - 22
4-113359707-A-G c.3256A>G p.M1086V Missense 13/16 - 1
4-113359709-G-A c.3258G>A p.M1086I Missense 13/16 - 1
4-113359709-G-T c.3258G>T p.M1086I Missense 13/16 - 3
4-113359713-G-A c.3262G>A p.A1088T Missense 13/16 - 6
4-113359713-G-C c.3262G>C p.A1088P Missense 13/16 - 3
4-113359720-A-G c.3269A>G p.H1090R Missense 13/16 - 1
4-113359721-C-T c.3270C>T p.H1090= Synonymous 13/16 - 1
4-113359726-T-C c.3275T>C p.V1092A Missense 13/16 - 3
4-113359728-A-G c.3277A>G p.T1093A Missense 13/16 - 1
4-113359731-G-T c.3280G>T p.E1094* Nonsense 13/16 - 1
4-113359735-T-G c.3284T>G p.F1095C Missense 13/16 - 1
4-113359740-A-T c.3289A>T p.K1097* Nonsense 13/16 - 1
4-113359744-G-A c.3293G>A p.R1098K Missense 13/16 - 1
4-113359752-G-A c.3301G>A p.E1101K Missense 13/16 - 2
4-113359765-C-T c.3314C>T p.P1105L Missense 13/16 - 5
4-113359766-C-A c.3315C>A p.P1105= Synonymous 13/16 - 1
4-113359766-C-G c.3315C>G p.P1105= Synonymous 13/16 - 1
4-113359766-C-T c.3315C>T p.P1105= Synonymous 13/16 - 1
4-113359768-C-T c.3317C>T p.T1106I Missense 13/16 - 2
4-113359778-C-A c.3327C>A p.F1109L Missense 13/16 - 1
4-113359780-A-G c.3329A>G p.Y1110C Missense 13/16 - 1
4-113359789-C-G c.3338C>G p.S1113C Missense 13/16 - 1
4-113359790-C-A c.3339C>A p.S1113= Synonymous 13/16 - 1
4-113359790-C-G c.3339C>G p.S1113= Synonymous 13/16 - 1
4-113359790-C-T c.3339C>T p.S1113= Synonymous 13/16 - 1
4-113359794-A-G c.3343A>G p.I1115V Missense 13/16 - 1
4-113359797-C-T c.3346C>T p.L1116= Synonymous 13/16 - 1
4-113359801-T-C c.3350T>C p.L1117P Missense 13/16 - 8
4-113359802-G-GATTTTAGAGGACAAGACAATAAAGGGATGTATCAGT c.3351_3351+1insATTTTAGAGGACAAGACAATAAAGGGATGTATCAGT p.I1118_S1129dup SpliceDonorInsertion - - 1
4-113359883-A-T c.3351+81A>T - IntronicSNV - 13/15 5
4-113360044-G-A c.3351+242G>A - IntronicSNV - 13/15 2
4-113360862-A-G c.3372A>G p.I1124M Missense 14/16 - 2
4-113360863-A-G c.3373A>G p.K1125E Missense 14/16 - 3
4-113360865-G-C c.3375G>C p.K1125N Missense 14/16 - 1
4-113360865-G-T c.3375G>T p.K1125N Missense 14/16 - 1
4-113360866-G-A c.3376G>A p.G1126R Missense 14/16 - 3
4-113360866-G-C c.3376G>C p.G1126R Missense 14/16 - 2
4-113360884-C-A c.3394C>A p.P1132T Missense 14/16 - 1
4-113360884-C-T c.3394C>T p.P1132S Missense 14/16 - 3
4-113360890-A-C c.3400A>C p.I1134L Missense 14/16 - 1
4-113360890-A-T c.3400A>T p.I1134L Missense 14/16 - 2
4-113360891-T-C c.3401T>C p.I1134T Missense 14/16 - 1
4-113360896-G-T c.3406G>T p.G1136* Nonsense 14/16 - 1
4-113360897-G-C c.3407G>C p.G1136A Missense 14/16 - 1
4-113360899-G-T c.3409G>T p.E1137* Nonsense 14/16 - 1
4-113360908-A-T c.3418A>T p.K1140* Nonsense 14/16 - 2
4-113360909-A-T c.3419A>T p.K1140I Missense 14/16 - 3
4-113360915-CAAAT-C c.3428_3431del p.N1143Tfs*5 Frameshift 14/16 - 1
4-113360924-C-T c.3434C>T p.T1145M Missense 14/16 - 3
4-113360925-G-A c.3435G>A p.T1145= Synonymous 14/16 - 8
4-113360925-G-C c.3435G>C p.T1145= Synonymous 14/16 - 1
4-113360925-G-T c.3435G>T p.T1145= Synonymous 14/16 - 6
4-113360928-A-G c.3438A>G p.K1146= Synonymous 14/16 - 2
4-113360933-T-C c.3443T>C p.V1148A Missense 14/16 - 4
4-113360937-A-C c.3447A>C p.K1149N Missense 14/16 - 1
4-113360937-A-T c.3447A>T p.K1149N Missense 14/16 - 1
4-113360939-CAG-C c.3451_3452del p.E1151Ifs*16 Frameshift 14/16 - 2
4-113360950-G-C c.3460G>C p.A1154P Missense 14/16 - 1
4-113360952-C-T c.3462C>T p.A1154= Synonymous 14/16 - 1
4-113360956-G-A c.3466G>A p.E1156K Missense 14/16 - 2
4-113360962-G-T c.3472G>T p.G1158C Missense 14/16 - 2
4-113360967-TGGCCTATGGCCA-T c.3477_3488del p.L1159_H1163delinsF MultiAAMissense 14/16 - 1
4-113360969-C-G c.3479C>G p.A1160G Missense 14/16 - 2
4-113360969-C-T c.3479C>T p.A1160V Missense 14/16 - 1
4-113360972-A-G c.3482A>G p.Y1161C Missense 14/16 - 4
4-113360975-G-C c.3485G>C p.G1162A Missense 14/16 - 2
4-113360986-T-A c.3496T>A p.Y1166N Missense 14/16 - 4
4-113360987-A-G c.3497A>G p.Y1166C Missense 14/16 - 2
4-113360992-T-C c.3502T>C p.F1168L Missense 14/16 - 1
4-113360993-T-C c.3503T>C p.F1168S Missense 14/16 - 1
4-113360994-T-G c.3504T>G p.F1168L Missense 14/16 - 2
4-113361003-T-A c.3513T>A p.H1171Q Missense 14/16 - 1
4-113361003-T-G c.3513T>G p.H1171Q Missense 14/16 - 1
4-113361005-G-A c.3515G>A p.R1172K Missense 14/16 - 4
4-113361015-G-A c.3525G>A p.V1175= Synonymous 14/16 - 1
4-113361016-G-T c.3526G>T p.V1176F Missense 14/16 - 2
4-113361018-C-A c.3528C>A p.V1176= Synonymous 14/16 - 1
4-113361018-C-G c.3528C>G p.V1176= Synonymous 14/16 - 1
4-113361018-C-T c.3528C>T p.V1176= Synonymous 14/16 - 1
4-113361028-G-A c.3538G>A p.G1180S Missense 14/16 - 1
4-113361028-G-C c.3538G>C p.G1180R Missense 14/16 - 1
4-113362001-A-G c.3539-72A>G - IntronicSNV - 14/15 1
4-113362073-G-A c.3539G>A p.G1180D Missense 15/16 - 1
4-113362078-G-C c.3544G>C p.V1182L Missense 15/16 - 1
4-113362084-G-A c.3550G>A p.G1184S Missense 15/16 - 2
4-113362087-A-G c.3553A>G p.N1185D Missense 15/16 - 1
4-113362090-G-T c.3556G>T p.G1186* Nonsense 15/16 - 1
4-113362091-G-C c.3557G>C p.G1186A Missense 15/16 - 2
4-113362095-A-G c.3561A>G p.K1187= Synonymous 15/16 - 1
4-113362097-G-A c.3563G>A p.G1188E Missense 15/16 - 4
4-113362098-A-G c.3564A>G p.G1188= Synonymous 15/16 - 1
4-113362114-G-A c.3580G>A p.D1194N Missense 15/16 - 1
4-113362121-A-T c.3587A>T p.Q1196L Missense 15/16 - 2
4-113362126-C-G c.3592C>G p.H1198D Missense 15/16 - 4
4-113362130-C-T c.3596C>T p.S1199F Missense 15/16 - 1
4-113362131-C-T c.3597C>T p.S1199= Synonymous 15/16 - 1
4-113362132-G-A c.3598G>A p.V1200I Missense 15/16 - 1
4-113362138-C-T c.3604C>T p.Q1202* Nonsense 15/16 - 1
4-113362145-T-G c.3611T>G p.V1204G Missense 15/16 - 3
4-113362155-C-A c.3621C>A p.T1207= Synonymous 15/16 - 1
4-113362155-C-G c.3621C>G p.T1207= Synonymous 15/16 - 1
4-113362155-C-T c.3621C>T p.T1207= Synonymous 15/16 - 1
4-113362158-T-C c.3624T>C p.N1208= Synonymous 15/16 - 1
4-113362164-A-AT c.3630_3631insT p.K1211* Nonsense 15/16 - 1
4-113362167-G-A c.3633G>A p.K1211= Synonymous 15/16 - 1
4-113362172-G-C c.3638G>C p.G1213A Missense 15/16 - 1
4-113362185-C-T c.3651C>T p.F1217= Synonymous 15/16 - 3
4-113362189-A-G c.3655A>G p.N1219D Missense 15/16 - 1
4-113362195-C-T c.3661C>T p.Q1221* Nonsense 15/16 - 1
4-113362205-A-G c.3671A>G p.E1224G Missense 15/16 - 2
4-113362208-G-A c.3674G>A p.C1225Y Missense 15/16 - 3
4-113362208-G-T c.3674G>T p.C1225F Missense 15/16 - 1
4-113362213-G-A c.3679G>A p.E1227K Missense 15/16 - 1
4-113362218-C-A c.3684C>A p.I1228= Synonymous 15/16 - 1
4-113362218-C-T c.3684C>T p.I1228= Synonymous 15/16 - 2
4-113362221-C-T c.3687C>T p.C1229= Synonymous 15/16 - 1
4-113362223-CA-C c.3689del p.H1230Lfs*5 Frameshift 15/16 - 1
4-113362225-C-T c.3691C>T p.R1231C Missense 15/16 - 1
4-113362226-G-A c.3692G>A p.R1231H Missense 15/16 - 1
4-113362226-G-C c.3692G>C p.R1231P Missense 15/16 - 5
4-113362231-T-C c.3697T>C p.S1233P Missense 15/16 - 1
4-113362240-AGA-TGT c.3706_3708delinsTGT p.R1236C Missense 15/16 - 2
4-113362254-G-C c.3720G>C p.E1240D Missense 15/16 - 1
4-113362295-C-T c.3727+34C>T - IntronicSNV - 15/15 1
4-113362316-A-G c.3728-43A>G - IntronicSNV - 15/15 7
4-113362362-C-T c.3731C>T p.T1244I Missense 16/16 - 2
4-113362364-T-G c.3733T>G p.*1245Eext*21 Missense 16/16 - 1
4-113362371-C-T c.*5C>T - 3-UTRSNV 16/16 - 1
4-113362463-T-C c.*97T>C - 3-UTRSNV 16/16 - 1
4-113362622-C-G c.*256C>G - 3-UTRSNV 16/16 - 12
4-113363048-G-A c.*682G>A - 3-UTRSNV 16/16 - 3
4-113363349-G-A c.*983G>A - 3-UTRSNV 16/16 - 1
4-113363381-C-T c.*1015C>T - 3-UTRSNV 16/16 - 3
4-113363733-C-T c.*1367C>T - 3-UTRSNV 16/16 - 1