CFH

CFH complement factor H

Annotation transcript: NM_000186.4

2807 unique variant annotations were identified in 2224 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
1-196621197-G-C c.-51G>C - 5-UTRSNV 1/22 - 1
1-196621248-A-G c.1A>G p.M1? Missense 1/22 - 1
1-196621248-A-T c.1A>T p.M1? Missense 1/22 - 1
1-196621249-T-A c.2T>A p.M1? Missense 1/22 - 1
1-196621250-G-A c.3G>A p.M1? Missense 1/22 - 2
1-196621250-G-C c.3G>C p.M1? Missense 1/22 - 1
1-196621250-G-T c.3G>T p.M1? Missense 1/22 - 1
1-196621252-G-C c.5G>C p.R2T Missense 1/22 - 4
1-196621252-G-T c.5G>T p.R2I Missense 1/22 - 1
1-196621251-A-C c.4A>C p.R2= Synonymous 1/22 - 33
1-196621253-A-G c.6A>G p.R2= Synonymous 1/22 - 33
1-196621254-C-G c.7C>G p.L3V Missense 1/22 - 9
1-196621254-C-T c.7C>T p.L3F Missense 1/22 - 5
1-196621257-C-A c.10C>A p.L4I Missense 1/22 - 1
1-196621257-CTA-TTT c.10_12delinsTTT p.L4F Missense 1/22 - 1
1-196621258-T-G c.11T>G p.L4R Missense 1/22 - 1
1-196621257-C-T c.10C>T p.L4= Synonymous 1/22 - 2
1-196621259-A-C c.12A>C p.L4= Synonymous 1/22 - 1
1-196621259-A-G c.12A>G p.L4= Synonymous 1/22 - 1
1-196621259-A-T c.12A>T p.L4= Synonymous 1/22 - 1
1-196621262-A-C c.15A>C p.A5= Synonymous 1/22 - 2
1-196621262-A-G c.15A>G p.A5= Synonymous 1/22 - 2
1-196621262-A-T c.15A>T p.A5= Synonymous 1/22 - 2
1-196621263-A-C c.16A>C p.K6Q Missense 1/22 - 1
1-196621264-A-G c.17A>G p.K6R Missense 1/22 - 1
1-196621265-G-A c.18G>A p.K6= Synonymous 1/22 - 2
1-196621265-G-C c.18G>C p.K6N Missense 1/22 - 1
1-196621267-T-C c.20T>C p.I7T Missense 1/22 - 4
1-196621271-T-A c.24T>A p.I8= Synonymous 1/22 - 2
1-196621271-T-C c.24T>C p.I8= Synonymous 1/22 - 2
1-196621274-C-G c.27C>G p.C9W Missense 1/22 - 1
1-196621276-T-C c.29T>C p.L10P Missense 1/22 - 1
1-196621276-T-G c.29T>G p.L10R Missense 1/22 - 1
1-196621278-AT-GC c.31_32delinsGC p.M11A Missense 1/22 - 1
1-196621279-T-C c.32T>C p.M11T Missense 1/22 - 1
1-196621279-TG-AC c.32_33delinsAC p.M11N Missense 1/22 - 1
1-196621280-G-T c.33G>T p.M11I Missense 1/22 - 1
1-196621281-T-C c.34T>C p.L12= Synonymous 1/22 - 1
1-196621283-A-G c.36A>G p.L12= Synonymous 1/22 - 2
1-196621286-G-C c.39G>C p.W13C Missense 1/22 - 1
1-196621286-G-T c.39G>T p.W13C Missense 1/22 - 1
1-196621287-G-A c.40G>A p.A14T Missense 1/22 - 1
1-196621287-GC-CG c.40_41delinsCG p.A14R Missense 1/22 - 1
1-196621287-GCT-AAG c.40_42delinsAAG p.A14K Missense 1/22 - 1
1-196621287-GCT-CAA c.40_42delinsCAA p.A14Q Missense 1/22 - 2
1-196621287-GC-TT c.40_41delinsTT p.A14F Missense 1/22 - 1
1-196621287-G-T c.40G>T p.A14S Missense 1/22 - 4
1-196621288-C-G c.41C>G p.A14G Missense 1/22 - 3
1-196621288-C-T c.41C>T p.A14V Missense 1/22 - 9
1-196621289-T-A c.42T>A p.A14= Synonymous 1/22 - 1
1-196621289-T-C c.42T>C p.A14= Synonymous 1/22 - 1
1-196621289-T-G c.42T>G p.A14= Synonymous 1/22 - 1
1-196621293-T-C c.46T>C p.C16R Missense 1/22 - 1
1-196621293-TG-GC c.46_47delinsGC p.C16A Missense 1/22 - 1
1-196621294-G-A c.47G>A p.C16Y Missense 1/22 - 2
1-196621294-G-C c.47G>C p.C16S Missense 1/22 - 1
1-196621294-G-T c.47G>T p.C16F Missense 1/22 - 1
1-196621295-T-A c.48T>A p.C16* Nonsense 1/22 - 1
1-196621296-G-A c.49G>A p.V17I Missense 1/22 - 1
1-196621299-G-C c.52G>C p.A18P Missense 1/22 - 2
1-196621299-GC-AA c.52_53delinsAA p.A18K Missense 1/22 - 1
1-196621299-GCA-AAC c.52_54delinsAAC p.A18N Missense 1/22 - 1
1-196621299-GC-CA c.52_53delinsCA p.A18Q Missense 1/22 - 1
1-196621299-G-T c.52G>T p.A18S Missense 1/22 - 2
1-196621299-G-GC c.53dup p.E19Rfs*5 Frameshift 1/22 - 1
1-196621300-C-T c.53C>T p.A18V Missense 1/22 - 4
1-196621304-A-G c.57A>G p.E19= Synonymous 1/22 - 1
1-196621305-G-A c.58G>A p.D20N Missense 1/22 - 4
1-196621306-G-A c.58+1G>A - IntronicSNV - 1/21 1
1-196621330-T-C c.58+25T>C - IntronicSNV - 1/21 1
1-196622088-ATAGG-A c.58+786_58+789del - IntronicDeletion - 1/21 1
1-196623337-T-C c.58+2032T>C - IntronicSNV - 1/21 3
1-196623589-G-C c.58+2284G>C - IntronicSNV - 1/21 1
1-196623960-G-A c.58+2655G>A - IntronicSNV - 1/21 1
1-196624646-A-C c.58+3341A>C - IntronicSNV - 1/21 1
1-196625997-G-A c.58+4692G>A - IntronicSNV - 1/21 1
1-196627353-TA-T c.58+6057del - IntronicDeletion - 1/21 1
1-196628224-C-CA c.58+6926dup - IntronicInsertion - 1/21 1
1-196629504-A-G c.58+8199A>G - IntronicSNV - 1/21 1
1-196632115-T-TA c.59-9991dup - IntronicInsertion - 1/21 1
1-196632470-A-G c.59-9638A>G - IntronicSNV - 1/21 3
1-196635106-G-A c.59-7002G>A - IntronicSNV - 1/21 12
1-196635470-G-T c.59-6638G>T - IntronicSNV - 1/21 2
1-196642072-C-T c.59-36C>T - IntronicSNV - 1/21 11
1-196642109-T-C c.60T>C p.D20= Synonymous 2/22 - 1
1-196642108-AT-A c.61del p.C21Afs*13 Frameshift 2/22 - 1
1-196642113-A-G c.64A>G p.N22D Missense 2/22 - 1
1-196642114-A-G c.65A>G p.N22S Missense 2/22 - 1
1-196642115-T-C c.66T>C p.N22= Synonymous 2/22 - 1
1-196642116-G-A c.67G>A p.E23K Missense 2/22 - 5
1-196642117-A-C c.68A>C p.E23A Missense 2/22 - 2
1-196642117-A-G c.68A>G p.E23G Missense 2/22 - 1
1-196642119-C-T c.70C>T p.L24F Missense 2/22 - 1
1-196642120-T-C c.71T>C p.L24P Missense 2/22 - 1
1-196642120-T-G c.71T>G p.L24R Missense 2/22 - 3
1-196642122-C-T c.73C>T p.P25S Missense 2/22 - 4
1-196642123-C-G c.74C>G p.P25R Missense 2/22 - 1
1-196642124-T-A c.75T>A p.P25= Synonymous 2/22 - 1
1-196642124-T-C c.75T>C p.P25= Synonymous 2/22 - 4
1-196642124-T-G c.75T>G p.P25= Synonymous 2/22 - 1
1-196642125-C-T c.76C>T p.P26S Missense 2/22 - 5
1-196642126-C-G c.77C>G p.P26R Missense 2/22 - 1
1-196642126-C-T c.77C>T p.P26L Missense 2/22 - 4
1-196642126-CAAGA-C c.79_82del p.R27Efs*6 Frameshift 2/22 - 1
1-196642128-AGA-TGG c.79_81delinsTGG p.R27W Missense 2/22 - 1
1-196642129-G-T c.80G>T p.R27I Missense 2/22 - 2
1-196642130-A-C c.81A>C p.R27S Missense 2/22 - 1
1-196642130-A-T c.81A>T p.R27S Missense 2/22 - 2
1-196642131-AG-CC c.82_83delinsCC p.R28P Missense 2/22 - 1
1-196642129-GAAGA-G c.83_86del p.R28Ifs*5 Frameshift 2/22 - 1
1-196642132-G-A c.83G>A p.R28K Missense 2/22 - 1
1-196642134-A-G c.85A>G p.N29D Missense 2/22 - 1
1-196642135-A-C c.86A>C p.N29T Missense 2/22 - 3
1-196642135-A-G c.86A>G p.N29S Missense 2/22 - 1
1-196642135-A-T c.86A>T p.N29I Missense 2/22 - 1
1-196642138-C-T c.89C>T p.T30I Missense 2/22 - 2
1-196642140-G-A c.91G>A p.E31K Missense 2/22 - 1
1-196642142-A-G c.93A>G p.E31= Synonymous 2/22 - 1
1-196642143-A-C c.94A>C p.I32L Missense 2/22 - 2
1-196642143-A-T c.94A>T p.I32F Missense 2/22 - 3
1-196642144-T-G c.95T>G p.I32S Missense 2/22 - 1
1-196642145-TTCTGACAGGTTCCTG-T c.96_110del p.I32_W37delinsM MultiAAMissense 2/22 - 1
1-196642146-CTG-ATC c.97_99delinsATC p.L33I Missense 2/22 - 1
1-196642147-T-C c.98T>C p.L33P Missense 2/22 - 3
1-196642147-T-G c.98T>G p.L33R Missense 2/22 - 3
1-196642146-C-T c.97C>T p.L33= Synonymous 2/22 - 3
1-196642148-G-A c.99G>A p.L33= Synonymous 2/22 - 3
1-196642148-G-C c.99G>C p.L33= Synonymous 2/22 - 3
1-196642148-G-T c.99G>T p.L33= Synonymous 2/22 - 3
1-196642149-A-G c.100A>G p.T34A Missense 2/22 - 1
1-196642150-C-G c.101C>G p.T34R Missense 2/22 - 2
1-196642152-G-A c.103G>A p.G35S Missense 2/22 - 5
1-196642153-G-A c.104G>A p.G35D Missense 2/22 - 6
1-196642155-T-G c.106T>G p.S36A Missense 2/22 - 1
1-196642156-C-A c.107C>A p.S36Y Missense 2/22 - 1
1-196642156-CC-GG c.107_108inv p.S36W Missense 2/22 - 1
1-196642156-C-T c.107C>T p.S36F Missense 2/22 - 1
1-196642158-T-C c.109T>C p.W37R Missense 2/22 - 2
1-196642161-TC-AT c.112_113delinsAT p.S38I Missense 2/22 - 1
1-196642162-C-T c.113C>T p.S38F Missense 2/22 - 1
1-196642164-G-A c.115G>A p.D39N Missense 2/22 - 1
1-196642164-G-C c.115G>C p.D39H Missense 2/22 - 1
1-196642167-C-T c.118C>T p.Q40* Nonsense 2/22 - 1
1-196642168-A-T c.119A>T p.Q40L Missense 2/22 - 4
1-196642171-C-T c.122C>T p.T41I Missense 2/22 - 4
1-196642173-AT-A c.124del p.Y42Ifs*21 Frameshift 2/22 - 1
1-196642173-T-G c.124T>G p.Y42D Missense 2/22 - 1
1-196642174-A-T c.125A>T p.Y42F Missense 2/22 - 3
1-196642175-T-A c.126T>A p.Y42* Nonsense 2/22 - 2
1-196642175-T-G c.126T>G p.Y42* Nonsense 2/22 - 2
1-196642176-C-A c.127C>A p.P43T Missense 2/22 - 1
1-196642176-C-T c.127C>T p.P43S Missense 2/22 - 1
1-196642177-C-G c.128C>G p.P43R Missense 2/22 - 1
1-196642177-C-T c.128C>T p.P43L Missense 2/22 - 6
1-196642179-G-A c.130G>A p.E44K Missense 2/22 - 1
1-196642179-G-T c.130G>T p.E44* Nonsense 2/22 - 1
1-196642180-A-C c.131A>C p.E44A Missense 2/22 - 1
1-196642183-G-A c.134G>A p.G45D Missense 2/22 - 2
1-196642185-AC-TG c.136_137delinsTG p.T46C Missense 2/22 - 1
1-196642185-A-G c.136A>G p.T46A Missense 2/22 - 2
1-196642190-G-A c.141G>A p.Q47= Synonymous 2/22 - 1
1-196642190-G-C c.141G>C p.Q47H Missense 2/22 - 1
1-196642190-G-T c.141G>T p.Q47H Missense 2/22 - 2
1-196642191-G-A c.142G>A p.A48T Missense 2/22 - 7
1-196642192-C-A c.143C>A p.A48D Missense 2/22 - 1
1-196642192-CT-AG c.143_144inv p.A48E Missense 2/22 - 1
1-196642194-A-G c.145A>G p.I49V Missense 2/22 - 4
1-196642195-T-A c.146T>A p.I49N Missense 2/22 - 1
1-196642195-T-G c.146T>G p.I49S Missense 2/22 - 1
1-196642196-C-T c.147C>T p.I49= Synonymous 2/22 - 2
1-196642202-A-G c.153A>G p.K51= Synonymous 2/22 - 1
1-196642203-T-C c.154T>C p.C52R Missense 2/22 - 2
1-196642203-TG-CA c.154_155inv p.C52H Missense 2/22 - 1
1-196642205-C-A c.156C>A p.C52* Nonsense 2/22 - 1
1-196642206-C-A c.157C>A p.R53S Missense 2/22 - 1
1-196642206-C-G c.157C>G p.R53G Missense 2/22 - 1
1-196642206-C-T c.157C>T p.R53C Missense 2/22 - 35
1-196642207-G-A c.158G>A p.R53H Missense 2/22 - 18
1-196642207-G-C c.158G>C p.R53P Missense 2/22 - 1
1-196642208-GCCCTGGA-G c.159_165del p.P54Ifs*7 Frameshift 2/22 - 1
1-196642209-C-T c.160C>T p.P54S Missense 2/22 - 1
1-196642210-C-A c.161C>A p.P54H Missense 2/22 - 3
1-196642210-C-T c.161C>T p.P54L Missense 2/22 - 6
1-196642212-G-A c.163G>A p.G55R Missense 2/22 - 1
1-196642212-G-C c.163G>C p.G55R Missense 2/22 - 1
1-196642213-G-A c.164G>A p.G55E Missense 2/22 - 2
1-196642213-G-T c.164G>T p.G55V Missense 2/22 - 2
1-196642217-ATAGATCTCTTGGAAATGTAATAATGGTATGCAGGAAGGGAGAATGGGTTGCTCTTAATC-A c.168_226del p.R57Ifs*29 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 2/22 - 1
1-196642218-AGA-CAT c.169_171delinsCAT p.R57H Missense 2/22 - 1
1-196642219-G-A c.170G>A p.R57K Missense 2/22 - 2
1-196642219-G-C c.170G>C p.R57T Missense 2/22 - 1
1-196642220-A-G c.171A>G p.R57= Synonymous 2/22 - 3
1-196642221-T-G c.172T>G p.S58A Missense 2/22 - 7
1-196642222-C-A c.173C>A p.S58Y Missense 2/22 - 1
1-196642223-T-C c.174T>C p.S58= Synonymous 2/22 - 1
1-196642224-C-A c.175C>A p.L59I Missense 2/22 - 1
1-196642224-C-T c.175C>T p.L59F Missense 2/22 - 2
1-196642225-T-C c.176T>C p.L59P Missense 2/22 - 1
1-196642227-G-A c.178G>A p.G60R Missense 2/22 - 1
1-196642227-G-C c.178G>C p.G60R Missense 2/22 - 1
1-196642227-G-T c.178G>T p.G60* Nonsense 2/22 - 1
1-196642228-G-A c.179G>A p.G60E Missense 2/22 - 3
1-196642233-G-A c.184G>A p.V62I Missense 2/22 - 305
1-196642233-G-T c.184G>T p.V62L Missense 2/22 - 1
1-196642235-A-C c.186A>C p.V62= Synonymous 2/22 - 4
1-196642235-A-G c.186A>G p.V62= Synonymous 2/22 - 3
1-196642235-A-T c.186A>T p.V62= Synonymous 2/22 - 3
1-196642236-AT-TA c.187_188delinsTA p.I63* Nonsense 2/22 - 1
1-196642237-TA-AC c.188_189delinsAC p.I63N Missense 2/22 - 1
1-196642237-T-C c.188T>C p.I63T Missense 2/22 - 1
1-196642239-A-C c.190A>C p.M64L Missense 2/22 - 2
1-196642239-A-G c.190A>G p.M64V Missense 2/22 - 1
1-196642239-A-T c.190A>T p.M64L Missense 2/22 - 2
1-196642242-G-A c.193G>A p.V65I Missense 2/22 - 4
1-196642245-T-G c.196T>G p.C66G Missense 2/22 - 1
1-196642245-TG-CA c.196_197inv p.C66H Missense 2/22 - 4
1-196642248-AG-TA c.199_200delinsTA p.R67* Nonsense 2/22 - 1
1-196642249-G-A c.200G>A p.R67K Missense 2/22 - 1
1-196642254-G-A c.205G>A p.G69R Missense 2/22 - 2
1-196642254-G-C c.205G>C p.G69R Missense 2/22 - 1
1-196642254-G-T c.205G>T p.G69* Nonsense 2/22 - 3
1-196642255-G-A c.206G>A p.G69E Missense 2/22 - 7
1-196642255-G-C c.206G>C p.G69A Missense 2/22 - 1
1-196642255-G-T c.206G>T p.G69V Missense 2/22 - 3
1-196642257-GAA-TTT c.208_210delinsTTT p.E70F Missense 2/22 - 1
1-196642259-A-C c.210A>C p.E70D Missense 2/22 - 2
1-196642259-A-G c.210A>G p.E70= Synonymous 2/22 - 1
1-196642259-A-T c.210A>T p.E70D Missense 2/22 - 1
1-196642260-T-A c.211T>A p.W71R Missense 2/22 - 2
1-196642260-T-C c.211T>C p.W71R Missense 2/22 - 1
1-196642261-G-A c.212G>A p.W71* Nonsense 2/22 - 4
1-196642261-G-C c.212G>C p.W71S Missense 2/22 - 1
1-196642263-G-A c.214G>A p.V72I Missense 2/22 - 3
1-196642266-GC-TG c.217_218delinsTG p.A73C Missense 2/22 - 1
1-196642267-C-A c.218C>A p.A73D Missense 2/22 - 1
1-196642267-C-G c.218C>G p.A73G Missense 2/22 - 3
1-196642269-C-T c.220C>T p.L74F Missense 2/22 - 1
1-196642270-T-C c.221T>C p.L74P Missense 2/22 - 2
1-196642270-T-G c.221T>G p.L74R Missense 2/22 - 3
1-196642272-AA-GC c.223_224delinsGC p.N75A Missense 2/22 - 1
1-196642272-A-C c.223A>C p.N75H Missense 2/22 - 1
1-196642273-A-G c.224A>G p.N75S Missense 2/22 - 1
1-196642275-CC-TA c.226_227delinsTA p.P76* Nonsense 2/22 - 1
1-196642275-C-G c.226C>G p.P76A Missense 2/22 - 1
1-196642275-C-T c.226C>T p.P76S Missense 2/22 - 1
1-196642276-C-A c.227C>A p.P76Q Missense 2/22 - 1
1-196642278-TTA-ATG c.229_231delinsATG p.L77M Missense 2/22 - 1
1-196642279-T-A c.230T>A p.L77* Nonsense 2/22 - 1
1-196642279-T-C c.230T>C p.L77S Missense 2/22 - 2
1-196642279-T-G c.230T>G p.L77* Nonsense 2/22 - 1
1-196642281-A-G c.232A>G p.R78G Missense 2/22 - 15
1-196642281-AGG-TTT c.232_234delinsTTT p.R78F Missense 2/22 - 1
1-196642281-A-C c.232A>C p.R78= Synonymous 2/22 - 1
1-196642283-G-A c.234G>A p.R78= Synonymous 2/22 - 5
1-196642284-A-G c.235A>G p.K79E Missense 2/22 - 1
1-196642285-A-C c.236A>C p.K79T Missense 2/22 - 1
1-196642287-T-A c.238T>A p.C80S Missense 2/22 - 3
1-196642287-T-C c.238T>C p.C80R Missense 2/22 - 1
1-196642288-G-C c.239G>C p.C80S Missense 2/22 - 3
1-196642289-T-C c.240T>C p.C80= Synonymous 2/22 - 3
1-196642289-T-G c.240T>G p.C80W Missense 2/22 - 1
1-196642291-A-C c.242A>C p.Q81P Missense 2/22 - 6
1-196642292-G-A c.243G>A p.Q81= Synonymous 2/22 - 1
1-196642292-G-C c.243G>C p.Q81H Missense 2/22 - 6
1-196642292-G-T c.243G>T p.Q81H Missense 2/22 - 4
1-196642293-A-AAAAGGCCCTGTGGACATCCTGGAGATACTCCTTTTGGTACTTTTACCCTTACAGGAG c.244_244+1insAAAGGCCCTGTGGACATCCTGGAGATACTCCTTTTGGTACTTTTACCCTTACAGGAG p.G100_G101insERPCGHPGDTPFGTFTLTG SpliceDonorInsertion - - 1
1-196642297-A-C c.244+4A>C - IntronicSNV - 2/21 1
1-196642507-G-A c.244+214G>A - IntronicSNV - 2/21 1
1-196642533-T-C c.244+240T>C - IntronicSNV - 2/21 2
1-196642975-T-A c.245-12T>A - IntronicSNV - 2/21 1
1-196642975-T-C c.245-12T>C - IntronicSNV - 2/21 1
1-196642980-G-A c.245-7G>A - IntronicSNV - 2/21 3
1-196642980-G-C c.245-7G>C - IntronicSNV - 2/21 3
1-196642980-G-T c.245-7G>T - IntronicSNV - 2/21 3
1-196642987-A-G c.245A>G p.K82R Missense 3/22 - 6
1-196642987-A-T c.245A>T p.K82I Missense 3/22 - 2
1-196642989-A-T c.247A>T p.R83W Missense 3/22 - 1
1-196642990-G-A c.248G>A p.R83K Missense 3/22 - 1
1-196642990-G-T c.248G>T p.R83M Missense 3/22 - 1
1-196642991-G-A c.249G>A p.R83= Synonymous 3/22 - 1
1-196642991-G-C c.249G>C p.R83S Missense 3/22 - 6
1-196642991-G-T c.249G>T p.R83S Missense 3/22 - 8
1-196642992-C-G c.250C>G p.P84A Missense 3/22 - 2
1-196642994-C-A c.252C>A p.P84= Synonymous 3/22 - 2
1-196642994-C-G c.252C>G p.P84= Synonymous 3/22 - 1
1-196642994-C-T c.252C>T p.P84= Synonymous 3/22 - 1
1-196642995-T-G c.253T>G p.C85G Missense 3/22 - 1
1-196642995-TG-AC c.253_254delinsAC p.C85T Missense 3/22 - 1
1-196642996-G-A c.254G>A p.C85Y Missense 3/22 - 1
1-196642998-G-T c.256G>T p.G86* Nonsense 3/22 - 1
1-196643001-C-G c.259C>G p.H87D Missense 3/22 - 2
1-196643004-C-A c.262C>A p.P88T Missense 3/22 - 3
1-196643004-C-T c.262C>T p.P88S Missense 3/22 - 1
1-196643008-G-C c.266G>C p.G89A Missense 3/22 - 3
1-196643010-G-A c.268G>A p.D90N Missense 3/22 - 1
1-196643010-GA-TT c.268_269delinsTT p.D90F Missense 3/22 - 1
1-196643010-G-T c.268G>T p.D90Y Missense 3/22 - 1
1-196643011-A-G c.269A>G p.D90G Missense 3/22 - 18
1-196643012-T-A c.270T>A p.D90E Missense 3/22 - 2
1-196643012-T-G c.270T>G p.D90E Missense 3/22 - 1
1-196643012-T-TA c.271dup p.T91Nfs*15 Frameshift 3/22 - 1
1-196643013-A-T c.271A>T p.T91S Missense 3/22 - 1
1-196643014-C-A c.272C>A p.T91N Missense 3/22 - 7
1-196643014-C-G c.272C>G p.T91S Missense 3/22 - 3
1-196643014-C-T c.272C>T p.T91I Missense 3/22 - 3
1-196643015-T-C c.273T>C p.T91= Synonymous 3/22 - 1
1-196643016-C-T c.274C>T p.P92S Missense 3/22 - 4
1-196643017-C-G c.275C>G p.P92R Missense 3/22 - 1
1-196643017-C-T c.275C>T p.P92L Missense 3/22 - 1
1-196643018-T-A c.276T>A p.P92= Synonymous 3/22 - 1
1-196643018-T-C c.276T>C p.P92= Synonymous 3/22 - 1
1-196643018-T-G c.276T>G p.P92= Synonymous 3/22 - 1
1-196643023-G-C c.281G>C p.G94A Missense 3/22 - 1
1-196643023-G-GT c.282dup p.T95Yfs*11 Frameshift 3/22 - 1
1-196643025-A-G c.283A>G p.T95A Missense 3/22 - 1
1-196643026-C-T c.284C>T p.T95I Missense 3/22 - 1
1-196643027-T-A c.285T>A p.T95= Synonymous 3/22 - 1
1-196643027-T-C c.285T>C p.T95= Synonymous 3/22 - 1
1-196643027-T-G c.285T>G p.T95= Synonymous 3/22 - 1
1-196643028-T-A c.286T>A p.F96I Missense 3/22 - 1
1-196643028-T-C c.286T>C p.F96L Missense 3/22 - 2
1-196643030-T-A c.288T>A p.F96L Missense 3/22 - 1
1-196643030-T-G c.288T>G p.F96L Missense 3/22 - 1
1-196643033-C-A c.291C>A p.T97= Synonymous 3/22 - 2
1-196643034-C-T c.292C>T p.L98F Missense 3/22 - 1
1-196643037-AC-TA c.295_296delinsTA p.T99* Nonsense 3/22 - 1
1-196643037-A-G c.295A>G p.T99A Missense 3/22 - 2
1-196643040-G-A c.298G>A p.G100R Missense 3/22 - 2
1-196643040-G-C c.298G>C p.G100R Missense 3/22 - 1
1-196643041-G-A c.299G>A p.G100E Missense 3/22 - 1
1-196643043-G-A c.301G>A p.G101R Missense 3/22 - 3
1-196643043-G-C c.301G>C p.G101R Missense 3/22 - 3
1-196643044-G-A c.302G>A p.G101E Missense 3/22 - 13
1-196643049-G-A c.307G>A p.V103M Missense 3/22 - 1
1-196643050-GT-G c.308del p.V103Gfs*6 Frameshift 3/22 - 1
1-196643056-A-C c.314A>C p.E105A Missense 3/22 - 2
1-196643056-A-T c.314A>T p.E105V Missense 3/22 - 2
1-196643057-A-T c.315A>T p.E105D Missense 3/22 - 1
1-196643061-G-A c.319G>A p.G107S Missense 3/22 - 1
1-196643061-G-C c.319G>C p.G107R Missense 3/22 - 1
1-196643062-G-T c.320G>T p.G107V Missense 3/22 - 1
1-196643063-T-A c.321T>A p.G107= Synonymous 3/22 - 2
1-196643063-T-C c.321T>C p.G107= Synonymous 3/22 - 4
1-196643063-T-G c.321T>G p.G107= Synonymous 3/22 - 2
1-196643064-G-A c.322G>A p.V108I Missense 3/22 - 3
1-196643064-GTA-TGT c.322_324delinsTGT p.V108C Missense 3/22 - 1
1-196643067-A-G c.325A>G p.K109E Missense 3/22 - 3
1-196643070-G-T c.328G>T p.A110S Missense 3/22 - 2
1-196643071-C-A c.329C>A p.A110D Missense 3/22 - 2
1-196643073-GTG-TGT c.331_333delinsTGT p.V111C Missense 3/22 - 1
1-196643074-T-A c.332T>A p.V111E Missense 3/22 - 2
1-196643074-T-G c.332T>G p.V111G Missense 3/22 - 1
1-196643076-T-C c.334T>C p.Y112H Missense 3/22 - 2
1-196643077-A-G c.335A>G p.Y112C Missense 3/22 - 1
1-196643079-A-T c.337A>T p.T113S Missense 3/22 - 1
1-196643080-C-T c.338C>T p.T113I Missense 3/22 - 2
1-196643083-G-A c.341G>A p.C114Y Missense 3/22 - 2
1-196643084-T-C c.342T>C p.C114= Synonymous 3/22 - 1
1-196643085-A-G c.343A>G p.N115D Missense 3/22 - 1
1-196643085-A-T c.343A>T p.N115Y Missense 3/22 - 6
1-196643086-A-G c.344A>G p.N115S Missense 3/22 - 1
1-196643088-G-A c.346G>A p.E116K Missense 3/22 - 2
1-196643090-G-A c.348G>A p.E116= Synonymous 3/22 - 1
1-196643091-G-A c.349G>A p.G117R Missense 3/22 - 8
1-196643091-G-C c.349G>C p.G117R Missense 3/22 - 1
1-196643091-GG-TA c.349_350delinsTA p.G117* Nonsense 3/22 - 1
1-196643092-G-A c.350G>A p.G117E Missense 3/22 - 2
1-196643092-G-GA c.350_350+1insA p.Y118Vfs*6 SpliceDonorInsertion - - 1
1-196643092-G-T c.350G>T p.G117V Missense 3/22 - 1
1-196643093-G-T c.350+1G>T - IntronicSNV - 3/21 1
1-196643098-T-G c.350+6T>G - IntronicSNV - 3/21 4
1-196643101-T-C c.350+9T>C - IntronicSNV - 3/21 1
1-196643272-C-T c.350+180C>T - IntronicSNV - 3/21 1
1-196643762-C-T c.350+670C>T - IntronicSNV - 3/21 1
1-196644921-G-C c.351-198G>C - IntronicSNV - 3/21 1
1-196644921-G-T c.351-198G>T - IntronicSNV - 3/21 1
1-196645119-G-A c.351G>A p.G117= Synonymous 4/22 - 1
1-196645120-TA-GC c.352_353delinsGC p.Y118A Missense 4/22 - 1
1-196645120-T-C c.352T>C p.Y118H Missense 4/22 - 1
1-196645122-T-A c.354T>A p.Y118* Nonsense 4/22 - 2
1-196645122-T-C c.354T>C p.Y118= Synonymous 4/22 - 1
1-196645122-T-G c.354T>G p.Y118* Nonsense 4/22 - 3
1-196645123-C-G c.355C>G p.Q119E Missense 4/22 - 1
1-196645123-C-T c.355C>T p.Q119* Nonsense 4/22 - 2
1-196645129-C-T c.361C>T p.L121= Synonymous 4/22 - 5
1-196645133-G-A c.365G>A p.G122D Missense 4/22 - 1
1-196645136-A-C c.368A>C p.E123A Missense 4/22 - 1
1-196645136-A-G c.368A>G p.E123G Missense 4/22 - 1
1-196645138-A-G c.370A>G p.I124V Missense 4/22 - 2
1-196645141-TAATTACCGTGAATGTGACACAGATGGATGGACCAATGATATTCCTATATGTGAAGGTAG-T c.374_427+5del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 4/22 4/21 3
1-196645143-T-C c.375T>C p.N125= Synonymous 4/22 - 3
1-196645145-A-T c.377A>T p.Y126F Missense 4/22 - 2
1-196645147-C-T c.379C>T p.R127C Missense 4/22 - 4
1-196645148-G-A c.380G>A p.R127H Missense 4/22 - 10
1-196645148-G-T c.380G>T p.R127L Missense 4/22 - 8
1-196645149-T-C c.381T>C p.R127= Synonymous 4/22 - 1
1-196645151-A-C c.383A>C p.E128A Missense 4/22 - 1
1-196645153-T-A c.385T>A p.C129S Missense 4/22 - 2
1-196645153-T-C c.385T>C p.C129R Missense 4/22 - 1
1-196645154-G-C c.386G>C p.C129S Missense 4/22 - 1
1-196645154-G-A c.386G>A p.C129Y Missense 4/22 - 2
1-196645154-G-T c.386G>T p.C129F Missense 4/22 - 1
1-196645155-T-G c.387T>G p.C129W Missense 4/22 - 1
1-196645156-G-A c.388G>A p.D130N Missense 4/22 - 13
1-196645156-G-C c.388G>C p.D130H Missense 4/22 - 1
1-196645157-A-G c.389A>G p.D130G Missense 4/22 - 1
1-196645159-A-C c.391A>C p.T131P Missense 4/22 - 1
1-196645160-ACAG-A c.392_394del p.T131_D132delinsN MultiAAMissense 4/22 - 1
1-196645160-C-A c.392C>A p.T131K Missense 4/22 - 1
1-196645162-G-A c.394G>A p.D132N Missense 4/22 - 1
1-196645162-G-C c.394G>C p.D132H Missense 4/22 - 1
1-196645162-G-T c.394G>T p.D132Y Missense 4/22 - 1
1-196645161-AGAT-A c.395_397del p.D132del InFrameDeletion 4/22 - 1
1-196645165-G-A c.397G>A p.G133R Missense 4/22 - 6
1-196645165-G-C c.397G>C p.G133R Missense 4/22 - 2
1-196645166-G-A c.398G>A p.G133E Missense 4/22 - 1
1-196645166-G-T c.398G>T p.G133V Missense 4/22 - 1
1-196645168-T-A c.400T>A p.W134R Missense 4/22 - 3
1-196645168-T-C c.400T>C p.W134R Missense 4/22 - 4
1-196645169-G-A c.401G>A p.W134* Nonsense 4/22 - 8
1-196645170-G-A c.402G>A p.W134* Nonsense 4/22 - 4
1-196645170-G-C c.402G>C p.W134C Missense 4/22 - 1
1-196645170-G-T c.402G>T p.W134C Missense 4/22 - 1
1-196645172-C-G c.404C>G p.T135S Missense 4/22 - 1
1-196645172-C-T c.404C>T p.T135I Missense 4/22 - 2
1-196645177-G-A c.409G>A p.D137N Missense 4/22 - 7
1-196645177-GA-AC c.409_410delinsAC p.D137T Missense 4/22 - 1
1-196645179-T-A c.411T>A p.D137E Missense 4/22 - 1
1-196645179-T-G c.411T>G p.D137E Missense 4/22 - 1
1-196645180-A-G c.412A>G p.I138V Missense 4/22 - 1
1-196645181-T-C c.413T>C p.I138T Missense 4/22 - 1
1-196645182-T-A c.414T>A p.I138= Synonymous 4/22 - 1
1-196645182-T-C c.414T>C p.I138= Synonymous 4/22 - 1
1-196645183-C-G c.415C>G p.P139A Missense 4/22 - 1
1-196645183-C-T c.415C>T p.P139S Missense 4/22 - 10
1-196645184-C-A c.416C>A p.P139H Missense 4/22 - 1
1-196645184-C-T c.416C>T p.P139L Missense 4/22 - 4
1-196645186-A-C c.418A>C p.I140L Missense 4/22 - 1
1-196645186-A-T c.418A>T p.I140L Missense 4/22 - 1
1-196645186-ATA-TTT c.418_420delinsTTT p.I140F Missense 4/22 - 1
1-196645188-A-G c.420A>G p.I140M Missense 4/22 - 2
1-196645189-TG-GC c.421_422delinsGC p.C141A Missense 4/22 - 1
1-196645192-G-A c.424G>A p.E142K Missense 4/22 - 1
1-196645192-G-C c.424G>C p.E142Q Missense 4/22 - 2
1-196645195-G-A c.427G>A p.V143I Missense 4/22 - 3
1-196645195-G-T c.427G>T p.V143F Missense 4/22 - 1
1-196645196-G-A c.427+1G>A - IntronicSNV - 4/21 1
1-196645942-CA-C c.428-664del - IntronicDeletion - 4/21 1
1-196646176-T-G c.428-430T>G - IntronicSNV - 4/21 13
1-196646261-A-G c.428-345A>G - IntronicSNV - 4/21 12
1-196646261-A-T c.428-345A>T - IntronicSNV - 4/21 12
1-196646387-T-C c.428-219T>C - IntronicSNV - 4/21 8
1-196646606-T-A c.428T>A p.V143D Missense 5/22 - 1
1-196646607-T-C c.429T>C p.V143= Synonymous 5/22 - 1
1-196646608-G-A c.430G>A p.V144M Missense 5/22 - 1
1-196646608-G-C c.430G>C p.V144L Missense 5/22 - 1
1-196646616-T-C c.438T>C p.C146= Synonymous 5/22 - 4
1-196646618-TTA-T c.440_441del p.L147Sfs*13 Frameshift 5/22 - 1
1-196646622-A-C c.444A>C p.P148= Synonymous 5/22 - 1
1-196646623-AG-A c.445del p.V149* Frameshift 5/22 - 1
1-196646623-G-A c.445G>A p.V149M Missense 5/22 - 4
1-196646623-G-C c.445G>C p.V149L Missense 5/22 - 1
1-196646623-G-T c.445G>T p.V149L Missense 5/22 - 1
1-196646622-AGT-A c.446_447del p.V149Dfs*11 Frameshift 5/22 - 1
1-196646624-T-C c.446T>C p.V149A Missense 5/22 - 1
1-196646629-G-A c.451G>A p.A151T Missense 5/22 - 3
1-196646629-G-C c.451G>C p.A151P Missense 5/22 - 1
1-196646630-C-T c.452C>T p.A151V Missense 5/22 - 1
1-196646632-C-A c.454C>A p.P152T Missense 5/22 - 4
1-196646633-C-T c.455C>T p.P152L Missense 5/22 - 1
1-196646634-A-C c.456A>C p.P152= Synonymous 5/22 - 1
1-196646634-A-G c.456A>G p.P152= Synonymous 5/22 - 1
1-196646634-A-T c.456A>T p.P152= Synonymous 5/22 - 1
1-196646635-G-A c.457G>A p.E153K Missense 5/22 - 3
1-196646636-A-T c.458A>T p.E153V Missense 5/22 - 1
1-196646637-G-A c.459G>A p.E153= Synonymous 5/22 - 3
1-196646639-A-T c.461A>T p.N154I Missense 5/22 - 1
1-196646640-T-C c.462T>C p.N154= Synonymous 5/22 - 1
1-196646641-G-A c.463G>A p.G155R Missense 5/22 - 1
1-196646641-G-C c.463G>C p.G155R Missense 5/22 - 1
1-196646642-G-A c.464G>A p.G155E Missense 5/22 - 2
1-196646642-G-T c.464G>T p.G155V Missense 5/22 - 1
1-196646645-A-T c.467A>T p.K156I Missense 5/22 - 3
1-196646642-G-GA c.469dup p.I157Nfs*4 Frameshift 5/22 - 3
1-196646648-T-A c.470T>A p.I157N Missense 5/22 - 1
1-196646648-T-G c.470T>G p.I157S Missense 5/22 - 7
1-196646649-T-G c.471T>G p.I157M Missense 5/22 - 1
1-196646650-G-A c.472G>A p.V158I Missense 5/22 - 6
1-196646650-G-T c.472G>T p.V158F Missense 5/22 - 2
1-196646653-A-G c.475A>G p.S159G Missense 5/22 - 1
1-196646653-AG-TA c.475_476delinsTA p.S159Y Missense 5/22 - 1
1-196646654-G-A c.476G>A p.S159N Missense 5/22 - 3
1-196646655-T-C c.477T>C p.S159= Synonymous 5/22 - 8
1-196646656-AG-CT c.478_479inv p.S160L Missense 5/22 - 1
1-196646657-G-GA c.479_480insA p.S160Rfs*20 Frameshift 5/22 - 1
1-196646659-G-A c.481G>A p.A161T Missense 5/22 - 4
1-196646659-G-T c.481G>T p.A161S Missense 5/22 - 10
1-196646662-A-G c.484A>G p.M162V Missense 5/22 - 5
1-196646662-AT-TG c.484_485delinsTG p.M162W Missense 5/22 - 1
1-196646663-T-A c.485T>A p.M162K Missense 5/22 - 1
1-196646664-G-GA c.486_487insA p.E163Rfs*17 Frameshift 5/22 - 1
1-196646664-G-GAA c.486_487insAA p.E163Kfs*55 Frameshift 5/22 - 1
1-196646668-C-T c.490C>T p.P164S Missense 5/22 - 1
1-196646671-G-A c.493G>A p.D165N Missense 5/22 - 3
1-196646671-G-T c.493G>T p.D165Y Missense 5/22 - 1
1-196646674-CGG-TGT c.496_498delinsTGT p.R166C Missense 5/22 - 1
1-196646674-C-T c.496C>T p.R166W Missense 5/22 - 14
1-196646675-G-A c.497G>A p.R166Q Missense 5/22 - 2
1-196646675-G-T c.497G>T p.R166L Missense 5/22 - 6
1-196646676-G-A c.498G>A p.R166= Synonymous 5/22 - 2
1-196646677-G-C c.499G>C p.E167Q Missense 5/22 - 14
1-196646677-G-T c.499G>T p.E167* Nonsense 5/22 - 2
1-196646679-A-C c.501A>C p.E167D Missense 5/22 - 2
1-196646679-A-T c.501A>T p.E167D Missense 5/22 - 2
1-196646680-T-C c.502T>C p.Y168H Missense 5/22 - 1
1-196646681-A-C c.503A>C p.Y168S Missense 5/22 - 1
1-196646682-C-A c.504C>A p.Y168* Nonsense 5/22 - 3
1-196646682-C-G c.504C>G p.Y168* Nonsense 5/22 - 2
1-196646682-C-T c.504C>T p.Y168= Synonymous 5/22 - 2
1-196646683-C-T c.505C>T p.H169Y Missense 5/22 - 2
1-196646684-A-G c.506A>G p.H169R Missense 5/22 - 3
1-196646684-ATTT-A c.508_510del p.F170del InFrameDeletion 5/22 - 1
1-196646687-T-A c.509T>A p.F170Y Missense 5/22 - 2
1-196646690-G-A c.512G>A p.G171E Missense 5/22 - 1
1-196646690-G-C c.512G>C p.G171A Missense 5/22 - 1
1-196646692-C-T c.514C>T p.Q172* Nonsense 5/22 - 1
1-196646695-G-T c.517G>T p.A173S Missense 5/22 - 1
1-196646696-C-G c.518C>G p.A173G Missense 5/22 - 5
1-196646698-G-T c.520G>T p.V174L Missense 5/22 - 1
1-196646701-C-G c.523C>G p.R175G Missense 5/22 - 2
1-196646701-C-T c.523C>T p.R175W Missense 5/22 - 13
1-196646702-G-A c.524G>A p.R175Q Missense 5/22 - 16
1-196646702-G-C c.524G>C p.R175P Missense 5/22 - 9
1-196646702-G-T c.524G>T p.R175L Missense 5/22 - 1
1-196646704-T-C c.526T>C p.F176L Missense 5/22 - 4
1-196646706-T-A c.528T>A p.F176L Missense 5/22 - 2
1-196646706-T-G c.528T>G p.F176L Missense 5/22 - 2
1-196646707-G-A c.529G>A p.V177I Missense 5/22 - 2
1-196646707-G-C c.529G>C p.V177L Missense 5/22 - 1
1-196646708-T-A c.530T>A p.V177E Missense 5/22 - 1
1-196646710-T-C c.532T>C p.C178R Missense 5/22 - 2
1-196646710-TG-AC c.532_533delinsAC p.C178T Missense 5/22 - 1
1-196646712-T-C c.534T>C p.C178= Synonymous 5/22 - 1
1-196646715-ACTC-A c.537_539del p.N179_S180delinsK MultiAAMissense 5/22 - 2
1-196646716-T-G c.538T>G p.S180A Missense 5/22 - 1
1-196646718-A-G c.540A>G p.S180= Synonymous 5/22 - 1
1-196646719-G-A c.541G>A p.G181S Missense 5/22 - 1
1-196646720-G-C c.542G>C p.G181A Missense 5/22 - 3
1-196646722-T-C c.544T>C p.Y182H Missense 5/22 - 1
1-196646728-A-G c.550A>G p.I184V Missense 5/22 - 4
1-196646728-GA-G c.550del p.I184Lfs*33 Frameshift 5/22 - 5
1-196646729-T-C c.551T>C p.I184T Missense 5/22 - 1
1-196646731-G-A c.553G>A p.E185K Missense 5/22 - 2
1-196646734-G-A c.556G>A p.G186R Missense 5/22 - 4
1-196646735-G-A c.557G>A p.G186E Missense 5/22 - 4
1-196646736-A-C c.558A>C p.G186= Synonymous 5/22 - 1
1-196646736-A-G c.558A>G p.G186= Synonymous 5/22 - 1
1-196646736-A-T c.558A>T p.G186= Synonymous 5/22 - 1
1-196646736-GA-G c.558del p.D187Mfs*30 Frameshift 5/22 - 1
1-196646737-G-A c.559G>A p.D187N Missense 5/22 - 1
1-196646737-G-C c.559G>C p.D187H Missense 5/22 - 1
1-196646737-G-T c.559G>T p.D187Y Missense 5/22 - 1
1-196646738-A-T c.560A>T p.D187V Missense 5/22 - 2
1-196646739-T-C c.561T>C p.D187= Synonymous 5/22 - 1
1-196646740-G-A c.562G>A p.E188K Missense 5/22 - 1
1-196646743-G-A c.565G>A p.E189K Missense 5/22 - 4
1-196646743-G-C c.565G>C p.E189Q Missense 5/22 - 1
1-196646743-G-T c.565G>T p.E189* Nonsense 5/22 - 3
1-196646750-A-G c.572A>G p.H191R Missense 5/22 - 2
1-196646753-G-A c.575G>A p.C192Y Missense 5/22 - 2
1-196646753-G-C c.575G>C p.C192S Missense 5/22 - 1
1-196646753-G-T c.575G>T p.C192F Missense 5/22 - 6
1-196646754-T-C c.576T>C p.C192= Synonymous 5/22 - 1
1-196646755-T-C c.577T>C p.S193P Missense 5/22 - 1
1-196646756-C-G c.578C>G p.S193* Nonsense 5/22 - 1
1-196646756-C-T c.578C>T p.S193L Missense 5/22 - 11
1-196646758-G-A c.580G>A p.D194N Missense 5/22 - 2
1-196646760-C-A c.582C>A p.D194E Missense 5/22 - 2
1-196646760-C-G c.582C>G p.D194E Missense 5/22 - 1
1-196646760-C-T c.582C>T p.D194= Synonymous 5/22 - 3
1-196646761-G-A c.583G>A p.D195N Missense 5/22 - 1
1-196646761-G-C c.583G>C p.D195H Missense 5/22 - 4
1-196646761-G-T c.583G>T p.D195Y Missense 5/22 - 1
1-196646764-G-C c.586G>C p.G196R Missense 5/22 - 4
1-196646764-GGT-AAG c.586_588delinsAAG p.G196K Missense 5/22 - 1
1-196646765-G-C c.587G>C p.G196A Missense 5/22 - 1
1-196646765-GT-AG c.587_588delinsAG p.G196E Missense 5/22 - 1
1-196646767-T-C c.589T>C p.F197L Missense 5/22 - 1
1-196646767-T-G c.589T>G p.F197V Missense 5/22 - 1
1-196646769-T-A c.591T>A p.F197L Missense 5/22 - 1
1-196646769-T-G c.591T>G p.F197L Missense 5/22 - 4
1-196646765-GT-G c.592del p.W198Gfs*19 Frameshift 5/22 - 1
1-196646770-T-C c.592T>C p.W198R Missense 5/22 - 3
1-196646771-G-A c.593G>A p.W198* Nonsense 5/22 - 2
1-196646772-G-A c.594G>A p.W198* Nonsense 5/22 - 1
1-196646773-A-G c.595A>G p.S199G Missense 5/22 - 3
1-196646774-G-A c.596G>A p.S199N Missense 5/22 - 1
1-196646774-G-C c.596G>C p.S199T Missense 5/22 - 1
1-196646776-AA-GC c.598_599delinsGC p.K200A Missense 5/22 - 1
1-196646776-A-G c.598A>G p.K200E Missense 5/22 - 1
1-196646776-TAAA-T c.598_600del p.K200del InFrameDeletion 5/22 - 1
1-196646777-A-C c.599A>C p.K200T Missense 5/22 - 1
1-196646777-A-G c.599A>G p.K200R Missense 5/22 - 1
1-196646779-G-A c.601G>A p.E201K Missense 5/22 - 2
1-196646781-G-A c.603G>A p.E201= Synonymous 5/22 - 2
1-196646783-A-C c.605A>C p.K202T Missense 5/22 - 1
1-196646786-C-T c.608C>T p.P203L Missense 5/22 - 1
1-196646787-A-C c.609A>C p.P203= Synonymous 5/22 - 1
1-196646787-A-G c.609A>G p.P203= Synonymous 5/22 - 1
1-196646787-A-T c.609A>T p.P203= Synonymous 5/22 - 1
1-196646788-A-C c.610A>C p.K204Q Missense 5/22 - 1
1-196646790-G-A c.612G>A p.K204= Synonymous 5/22 - 1
1-196646790-G-C c.612G>C p.K204N Missense 5/22 - 1
1-196646790-G-T c.612G>T p.K204N Missense 5/22 - 1
1-196646794-G-A c.616G>A p.V206M Missense 5/22 - 1
1-196646793-T-TGTACA c.617_618insACAGT p.E207Qfs*12 Frameshift 5/22 - 1
1-196646797-G-A c.619G>A p.E207K Missense 5/22 - 1
1-196646797-G-GAAATTTCATGCAAATCCCCAGATGTTATAAATGGATCTCCTATATCTCAGAAGATTATTTATAAGGA c.619_619+1insAAATTTCATGCAAATCCCCAGATGTTATAAATGGATCTCCTATATCTCAGAAGATTATTTATAAGGA p.E231Ffs*20 SpliceDonorInsertion - - 1
1-196646798-G-A c.619+1G>A - IntronicSNV - 5/21 2
1-196646807-A-C c.619+10A>C - IntronicSNV - 5/21 1
1-196646807-A-G c.619+10A>G - IntronicSNV - 5/21 1
1-196646815-T-C c.619+18T>C - IntronicSNV - 5/21 1
1-196646993-C-T c.619+196C>T - IntronicSNV - 5/21 1
1-196648613-C-A c.620-140C>A - IntronicSNV - 5/21 1
1-196648613-C-T c.620-140C>T - IntronicSNV - 5/21 1
1-196648755-AT-TA c.622_623delinsTA p.I208Y Missense 6/22 - 4
1-196648757-T-C c.624T>C p.I208= Synonymous 6/22 - 1
1-196648758-T-G c.625T>G p.S209A Missense 6/22 - 2
1-196648759-C-A c.626C>A p.S209* Nonsense 6/22 - 3
1-196648759-C-G c.626C>G p.S209* Nonsense 6/22 - 2
1-196648759-C-T c.626C>T p.S209L Missense 6/22 - 2
1-196648761-TG-GC c.628_629delinsGC p.C210A Missense 6/22 - 1
1-196648762-G-A c.629G>A p.C210Y Missense 6/22 - 3
1-196648762-G-T c.629G>T p.C210F Missense 6/22 - 5
1-196648765-A-G c.632A>G p.K211R Missense 6/22 - 1
1-196648768-C-T c.635C>T p.S212F Missense 6/22 - 2
1-196648769-C-T c.636C>T p.S212= Synonymous 6/22 - 1
1-196648770-C-T c.637C>T p.P213S Missense 6/22 - 3
1-196648771-C-T c.638C>T p.P213L Missense 6/22 - 1
1-196648773-G-A c.640G>A p.D214N Missense 6/22 - 4
1-196648773-G-T c.640G>T p.D214Y Missense 6/22 - 2
1-196648774-A-G c.641A>G p.D214G Missense 6/22 - 1
1-196648776-G-A c.643G>A p.V215I Missense 6/22 - 4
1-196648776-GTT-ATG c.643_645delinsATG p.V215M Missense 6/22 - 1
1-196648777-T-C c.644T>C p.V215A Missense 6/22 - 1
1-196648777-T-G c.644T>G p.V215G Missense 6/22 - 5
1-196648779-A-G c.646A>G p.I216V Missense 6/22 - 4
1-196648780-T-A c.647T>A p.I216K Missense 6/22 - 1
1-196648780-T-C c.647T>C p.I216T Missense 6/22 - 6
1-196648782-AAT-TAA c.649_651delinsTAA p.N217* Nonsense 6/22 - 1
1-196648784-T-C c.651T>C p.N217= Synonymous 6/22 - 1
1-196648785-GG-AA c.652_653delinsAA p.G218K Missense 6/22 - 1
1-196648785-G-T c.652G>T p.G218* Nonsense 6/22 - 1
1-196648786-G-A c.653G>A p.G218E Missense 6/22 - 4
1-196648789-C-G c.656C>G p.S219C Missense 6/22 - 1
1-196648789-C-T c.656C>T p.S219F Missense 6/22 - 1
1-196648788-TCTC-T c.658_660del p.P220del InFrameDeletion 6/22 - 1
1-196648791-C-T c.658C>T p.P220S Missense 6/22 - 5
1-196648792-C-T c.659C>T p.P220L Missense 6/22 - 1
1-196648793-T-C c.660T>C p.P220= Synonymous 6/22 - 1
1-196648794-A-G c.661A>G p.I221V Missense 6/22 - 4
1-196648795-T-C c.662T>C p.I221T Missense 6/22 - 1
1-196648796-A-G c.663A>G p.I221M Missense 6/22 - 3
1-196648797-T-C c.664T>C p.S222P Missense 6/22 - 1
1-196648799-T-A c.666T>A p.S222= Synonymous 6/22 - 1
1-196648799-T-C c.666T>C p.S222= Synonymous 6/22 - 1
1-196648799-T-G c.666T>G p.S222= Synonymous 6/22 - 1
1-196648801-A-G c.668A>G p.Q223R Missense 6/22 - 1
1-196648802-AG-A c.669del p.K224Rfs*57 Frameshift 6/22 - 1
1-196648802-G-A c.669G>A p.Q223= Synonymous 6/22 - 4
1-196648803-A-T c.670A>T p.K224* Nonsense 6/22 - 1
1-196648800-CAGA-C c.671_673del p.K224del InFrameDeletion 6/22 - 2
1-196648805-G-C c.672G>C p.K224N Missense 6/22 - 1
1-196648807-T-G c.674T>G p.I225S Missense 6/22 - 1
1-196648813-A-G c.680A>G p.Y227C Missense 6/22 - 3
1-196648817-G-A c.684G>A p.K228= Synonymous 6/22 - 1
1-196648818-G-A c.685G>A p.E229K Missense 6/22 - 4
1-196648820-G-T c.687G>T p.E229D Missense 6/22 - 1
1-196648822-A-C c.689A>C p.N230T Missense 6/22 - 1
1-196648822-A-G c.689A>G p.N230S Missense 6/22 - 2
1-196648824-G-A c.691G>A p.E231K Missense 6/22 - 3
1-196648827-C-A c.694C>A p.R232= Synonymous 6/22 - 1
1-196648827-C-T c.694C>T p.R232* Nonsense 6/22 - 3
1-196648829-A-C c.696A>C p.R232= Synonymous 6/22 - 1
1-196648829-A-G c.696A>G p.R232= Synonymous 6/22 - 1
1-196648829-A-T c.696A>T p.R232= Synonymous 6/22 - 1
1-196648828-G-A c.695G>A p.R232Q Missense 6/22 - 10
1-196648828-G-T c.695G>T p.R232L Missense 6/22 - 2
1-196648830-T-C c.697T>C p.F233L Missense 6/22 - 1
1-196648832-T-A c.699T>A p.F233L Missense 6/22 - 1
1-196648832-T-G c.699T>G p.F233L Missense 6/22 - 1
1-196648833-C-A c.700C>A p.Q234K Missense 6/22 - 1
1-196648835-A-C c.702A>C p.Q234H Missense 6/22 - 1
1-196648836-T-C c.703T>C p.Y235H Missense 6/22 - 1
1-196648840-A-C c.707A>C p.K236T Missense 6/22 - 1
1-196648841-ATG-A c.710_711del p.C237* Frameshift 6/22 - 1
1-196648844-T-A c.711T>A p.C237* Nonsense 6/22 - 1
1-196648845-A-C c.712A>C p.N238H Missense 6/22 - 1
1-196648845-A-G c.712A>G p.N238D Missense 6/22 - 5
1-196648846-A-G c.713A>G p.N238S Missense 6/22 - 1
1-196648851-G-A c.718G>A p.G240S Missense 6/22 - 3
1-196648851-G-C c.718G>C p.G240R Missense 6/22 - 2
1-196648851-GG-AC c.718_719delinsAC p.G240T Missense 6/22 - 1
1-196648852-G-A c.719G>A p.G240D Missense 6/22 - 3
1-196648852-GT-AG c.719_720delinsAG p.G240E Missense 6/22 - 1
1-196648857-G-A c.724G>A p.E242K Missense 6/22 - 2
1-196648860-T-C c.727T>C p.Y243H Missense 6/22 - 3
1-196648862-C-A c.729C>A p.Y243* Nonsense 6/22 - 1
1-196648862-C-G c.729C>G p.Y243* Nonsense 6/22 - 1
1-196648864-G-A c.731G>A p.S244N Missense 6/22 - 2
1-196648864-G-C c.731G>C p.S244T Missense 6/22 - 1
1-196648866-G-A c.733G>A p.E245K Missense 6/22 - 2
1-196648867-A-G c.734A>G p.E245G Missense 6/22 - 1
1-196648870-G-A c.737G>A p.R246K Missense 6/22 - 1
1-196648870-G-C c.737G>C p.R246T Missense 6/22 - 2
1-196648871-A-T c.738A>T p.R246S Missense 6/22 - 1
1-196648872-G-A c.739G>A p.G247R Missense 6/22 - 1
1-196648872-G-C c.739G>C p.G247R Missense 6/22 - 1
1-196648872-GGA-AGC c.739_741delinsAGC p.G247S Missense 6/22 - 1
1-196648871-AG-A c.740del p.G247Efs*34 Frameshift 6/22 - 1
1-196648873-G-C c.740G>C p.G247A Missense 6/22 - 1
1-196648875-G-A c.742G>A p.D248N Missense 6/22 - 1
1-196648875-G-C c.742G>C p.D248H Missense 6/22 - 1
1-196648875-G-T c.742G>T p.D248Y Missense 6/22 - 2
1-196648881-G-A c.748G>A p.V250I Missense 6/22 - 1
1-196648883-A-G c.750A>G p.V250= Synonymous 6/22 - 1
1-196648884-T-A c.751T>A p.C251S Missense 6/22 - 3
1-196648884-T-G c.751T>G p.C251G Missense 6/22 - 1
1-196648885-G-C c.752G>C p.C251S Missense 6/22 - 5
1-196648885-G-T c.752G>T p.C251F Missense 6/22 - 1
1-196648888-C-T c.755C>T p.T252I Missense 6/22 - 1
1-196648890-G-A c.757G>A p.E253K Missense 6/22 - 2
1-196648890-G-T c.757G>T p.E253* Nonsense 6/22 - 1
1-196648893-AT-A c.760del p.S254Lfs*27 Frameshift 6/22 - 1
1-196648893-TC-AA c.760_761delinsAA p.S254N Missense 6/22 - 1
1-196648894-C-T c.761C>T p.S254F Missense 6/22 - 1
1-196648894-CTGGATGGCGTCCG-C c.763_775del p.G255Cfs*22 Frameshift 6/22 - 1
1-196648896-GGA-TGT c.763_765delinsTGT p.G255C Missense 6/22 - 1
1-196648897-G-A c.764G>A p.G255E Missense 6/22 - 5
1-196648897-GA-AC c.764_765delinsAC p.G255D Missense 6/22 - 1
1-196648897-G-T c.764G>T p.G255V Missense 6/22 - 1
1-196648900-G-A c.767G>A p.W256* Nonsense 6/22 - 1
1-196648900-G-T c.767G>T p.W256L Missense 6/22 - 1
1-196648901-G-A c.768G>A p.W256* Nonsense 6/22 - 1
1-196648902-C-T c.769C>T p.R257C Missense 6/22 - 8
1-196648903-G-A c.770G>A p.R257H Missense 6/22 - 10
1-196648905-C-T c.772C>T p.P258S Missense 6/22 - 2
1-196648906-C-T c.773C>T p.P258L Missense 6/22 - 10
1-196648907-G-A c.774G>A p.P258= Synonymous 6/22 - 5
1-196648907-G-C c.774G>C p.P258= Synonymous 6/22 - 2
1-196648907-G-T c.774G>T p.P258= Synonymous 6/22 - 2
1-196648910-G-A c.777G>A p.L259= Synonymous 6/22 - 1
1-196648911-C-T c.778C>T p.P260S Missense 6/22 - 7
1-196648912-C-A c.779C>A p.P260H Missense 6/22 - 1
1-196648915-C-T c.782C>T p.S261L Missense 6/22 - 1
1-196648917-T-G c.784T>G p.C262G Missense 6/22 - 1
1-196648917-TG-GC c.784_785delinsGC p.C262A Missense 6/22 - 1
1-196648918-G-A c.785G>A p.C262Y Missense 6/22 - 1
1-196648920-G-A c.787G>A p.E263K Missense 6/22 - 2
1-196648922-A-T c.789A>T p.E263D Missense 6/22 - 1
1-196648923-G-A c.790G>A p.E264K Missense 6/22 - 3
1-196648924-G-A c.790+1G>A - IntronicSNV - 6/21 4
1-196649582-C-T c.790+659C>T - IntronicSNV - 6/21 1
1-196651745-A-G c.791-2449A>G - IntronicSNV - 6/21 1
1-196651832-T-C c.791-2362T>C - IntronicSNV - 6/21 31
1-196652834-C-A c.791-1360C>A - IntronicSNV - 6/21 3
1-196652834-C-T c.791-1360C>T - IntronicSNV - 6/21 3
1-196654194-A-G c.791A>G p.E264G Missense 7/22 - 4
1-196654196-A-C c.793A>C p.K265Q Missense 7/22 - 1
1-196654199-TCA-AAC c.796_798delinsAAC p.S266N Missense 7/22 - 1
1-196654199-TC-AT c.796_797delinsAT p.S266I Missense 7/22 - 1
1-196654200-C-T c.797C>T p.S266L Missense 7/22 - 4
1-196654201-A-C c.798A>C p.S266= Synonymous 7/22 - 2
1-196654201-A-G c.798A>G p.S266= Synonymous 7/22 - 3
1-196654201-A-T c.798A>T p.S266= Synonymous 7/22 - 2
1-196654203-G-A c.800G>A p.C267Y Missense 7/22 - 5
1-196654204-T-G c.801T>G p.C267W Missense 7/22 - 1
1-196654205-G-A c.802G>A p.D268N Missense 7/22 - 3
1-196654211-C-T c.808C>T p.P270S Missense 7/22 - 1
1-196654212-CTTATAT-C c.811_816del p.Y271_I272del InFrameDeletion 7/22 - 1
1-196654214-T-C c.811T>C p.Y271H Missense 7/22 - 1
1-196654218-T-C c.815T>C p.I272T Missense 7/22 - 1
1-196654218-T-G c.815T>G p.I272S Missense 7/22 - 1
1-196654220-C-A c.817C>A p.P273T Missense 7/22 - 8
1-196654221-C-T c.818C>T p.P273L Missense 7/22 - 1
1-196654224-A-T c.821A>T p.N274I Missense 7/22 - 1
1-196654225-T-C c.822T>C p.N274= Synonymous 7/22 - 1
1-196654226-G-A c.823G>A p.G275S Missense 7/22 - 2
1-196654226-G-C c.823G>C p.G275R Missense 7/22 - 1
1-196654226-G-T c.823G>T p.G275C Missense 7/22 - 1
1-196654227-G-C c.824G>C p.G275A Missense 7/22 - 1
1-196654229-G-A c.826G>A p.D276N Missense 7/22 - 1
1-196654229-TG-T c.826del p.D276Tfs*5 Frameshift 7/22 - 1
1-196654230-A-G c.827A>G p.D276G Missense 7/22 - 1
1-196654232-T-A c.829T>A p.Y277N Missense 7/22 - 1
1-196654233-A-G c.830A>G p.Y277C Missense 7/22 - 1
1-196654234-C-A c.831C>A p.Y277* Nonsense 7/22 - 1
1-196654234-C-G c.831C>G p.Y277* Nonsense 7/22 - 1
1-196654234-C-T c.831C>T p.Y277= Synonymous 7/22 - 2
1-196654235-T-C c.832T>C p.S278P Missense 7/22 - 1
1-196654239-C-A c.836C>A p.P279H Missense 7/22 - 2
1-196654239-C-T c.836C>T p.P279L Missense 7/22 - 1
1-196654240-T-G c.837T>G p.P279= Synonymous 7/22 - 2
1-196654241-T-C c.838T>C p.L280= Synonymous 7/22 - 2
1-196654244-A-T c.841A>T p.R281W Missense 7/22 - 1
1-196654245-G-C c.842G>C p.R281T Missense 7/22 - 1
1-196654245-G-T c.842G>T p.R281M Missense 7/22 - 1
1-196654246-G-A c.843G>A p.R281= Synonymous 7/22 - 2
1-196654246-G-C c.843G>C p.R281S Missense 7/22 - 1
1-196654246-G-T c.843G>T p.R281S Missense 7/22 - 2
1-196654250-A-G c.847A>G p.K283E Missense 7/22 - 1
1-196654252-A-G c.849A>G p.K283= Synonymous 7/22 - 1
1-196654253-C-T c.850C>T p.H284Y Missense 7/22 - 1
1-196654255-C-T c.852C>T p.H284= Synonymous 7/22 - 1
1-196654256-AG-CA c.853_854delinsCA p.R285Q Missense 7/22 - 1
1-196654256-A-T c.853A>T p.R285* Nonsense 7/22 - 1
1-196654257-G-A c.854G>A p.R285K Missense 7/22 - 3
1-196654258-GAA-G c.855_856del p.R285Sfs*4 Frameshift 7/22 - 1
1-196654260-C-G c.857C>G p.T286S Missense 7/22 - 1
1-196654261-CT-C c.858del p.G287Efs*36 Frameshift 7/22 - 1
1-196654262-G-A c.859G>A p.G287R Missense 7/22 - 6
1-196654262-G-C c.859G>C p.G287R Missense 7/22 - 4
1-196654266-A-C c.863A>C p.D288A Missense 7/22 - 2
1-196654266-A-G c.863A>G p.D288G Missense 7/22 - 2
1-196654268-G-A c.865G>A p.E289K Missense 7/22 - 8
1-196654269-A-C c.866A>C p.E289A Missense 7/22 - 1
1-196654269-A-T c.866A>T p.E289V Missense 7/22 - 1
1-196654270-A-C c.867A>C p.E289D Missense 7/22 - 1
1-196654270-A-T c.867A>T p.E289D Missense 7/22 - 1
1-196654272-T-C c.869T>C p.I290T Missense 7/22 - 2
1-196654273-C-T c.870C>T p.I290= Synonymous 7/22 - 2
1-196654274-A-T c.871A>T p.T291S Missense 7/22 - 2
1-196654276-G-A c.873G>A p.T291= Synonymous 7/22 - 1
1-196654276-G-C c.873G>C p.T291= Synonymous 7/22 - 2
1-196654276-G-T c.873G>T p.T291= Synonymous 7/22 - 1
1-196654278-A-C c.875A>C p.Y292S Missense 7/22 - 1
1-196654282-AG-A c.879del p.Q293Hfs*30 Frameshift 7/22 - 1
1-196654282-G-C c.879G>C p.Q293H Missense 7/22 - 1
1-196654282-G-T c.879G>T p.Q293H Missense 7/22 - 1
1-196654283-T-G c.880T>G p.C294G Missense 7/22 - 1
1-196654285-T-A c.882T>A p.C294* Nonsense 7/22 - 1
1-196654290-A-G c.887A>G p.N296S Missense 7/22 - 1
1-196654292-G-A c.889G>A p.G297S Missense 7/22 - 3
1-196654293-G-A c.890G>A p.G297D Missense 7/22 - 4
1-196654293-G-C c.890G>C p.G297A Missense 7/22 - 1
1-196654293-G-T c.890G>T p.G297V Missense 7/22 - 4
1-196654295-T-G c.892T>G p.F298V Missense 7/22 - 1
1-196654300-T-C c.897T>C p.Y299= Synonymous 7/22 - 2
1-196654301-C-A c.898C>A p.P300T Missense 7/22 - 1
1-196654301-CCT-TAA c.898_900delinsTAA p.P300* Nonsense 7/22 - 1
1-196654301-C-T c.898C>T p.P300S Missense 7/22 - 3
1-196654304-G-A c.901G>A p.A301T Missense 7/22 - 2
1-196654304-G-C c.901G>C p.A301P Missense 7/22 - 1
1-196654304-G-T c.901G>T p.A301S Missense 7/22 - 1
1-196654304-TGC-T c.901_902del p.A301Nfs*25 Frameshift 7/22 - 1
1-196654304-TG-T c.901del p.A301Qfs*22 Frameshift 7/22 - 2
1-196654307-A-G c.904A>G p.T302A Missense 7/22 - 4
1-196654308-CC-TG c.905_906delinsTG p.T302M Missense 7/22 - 1
1-196654310-C-A c.907C>A p.R303= Synonymous 7/22 - 1
1-196654310-C-T c.907C>T p.R303W Missense 7/22 - 4
1-196654311-G-A c.908G>A p.R303Q Missense 7/22 - 8
1-196654311-G-T c.908G>T p.R303L Missense 7/22 - 2
1-196654312-G-T c.909G>T p.R303= Synonymous 7/22 - 1
1-196654313-G-A c.910G>A p.G304R Missense 7/22 - 2
1-196654313-G-C c.910G>C p.G304R Missense 7/22 - 1
1-196654314-G-A c.911G>A p.G304E Missense 7/22 - 3
1-196654316-A-C c.913A>C p.N305H Missense 7/22 - 1
1-196654320-CA-AC c.917_918delinsAC p.T306N Missense 7/22 - 1
1-196654322-G-A c.919G>A p.A307T Missense 7/22 - 1
1-196654322-G-GC c.920dup p.C309Mfs*18 Frameshift 7/22 - 1
1-196654323-C-G c.920C>G p.A307G Missense 7/22 - 1
1-196654323-C-T c.920C>T p.A307V Missense 7/22 - 3
1-196654324-A-C c.921A>C p.A307= Synonymous 7/22 - 62
1-196654324-A-G c.921A>G p.A307= Synonymous 7/22 - 38
1-196654324-A-T c.921A>T p.A307= Synonymous 7/22 - 39
1-196654328-T-C c.925T>C p.C309R Missense 7/22 - 2
1-196654328-TG-AC c.925_926delinsAC p.C309T Missense 7/22 - 1
1-196654331-A-G c.928A>G p.T310A Missense 7/22 - 1
1-196654334-A-C c.931A>C p.S311R Missense 7/22 - 2
1-196654334-A-T c.931A>T p.S311C Missense 7/22 - 1
1-196654335-G-A c.932G>A p.S311N Missense 7/22 - 1
1-196654337-A-C c.934A>C p.T312P Missense 7/22 - 1
1-196654337-A-G c.934A>G p.T312A Missense 7/22 - 3
1-196654337-A-T c.934A>T p.T312S Missense 7/22 - 1
1-196654338-CT-TG c.935_936delinsTG p.T312M Missense 7/22 - 1
1-196654340-G-T c.937G>T p.G313C Missense 7/22 - 1
1-196654341-G-C c.938G>C p.G313A Missense 7/22 - 1
1-196654343-T-C c.940T>C p.W314R Missense 7/22 - 1
1-196654344-G-A c.941G>A p.W314* Nonsense 7/22 - 3
1-196654345-G-C c.942G>C p.W314C Missense 7/22 - 1
1-196654345-G-T c.942G>T p.W314C Missense 7/22 - 1
1-196654348-A-G c.945A>G p.I315M Missense 7/22 - 1
1-196654349-C-A c.946C>A p.P316T Missense 7/22 - 1
1-196654349-C-T c.946C>T p.P316S Missense 7/22 - 1
1-196654350-C-T c.947C>T p.P316L Missense 7/22 - 2
1-196654351-T-TCACCAG c.948_949insCACCAG p.P316_A317insHQ InFrameInsertion 7/22 - 1
1-196654356-C-T c.953C>T p.P318L Missense 7/22 - 1
1-196654357-G-A c.954G>A p.P318= Synonymous 7/22 - 4
1-196654357-G-C c.954G>C p.P318= Synonymous 7/22 - 1
1-196654358-AGA-TTT c.955_957delinsTTT p.R319F Missense 7/22 - 1
1-196654359-G-A c.956G>A p.R319K Missense 7/22 - 1
1-196654360-A-C c.957A>C p.R319S Missense 7/22 - 1
1-196654360-A-T c.957A>T p.R319S Missense 7/22 - 1
1-196654362-G-A c.959G>A p.C320Y Missense 7/22 - 4
1-196654364-A-C c.961A>C p.T321P Missense 7/22 - 1
1-196654365-C-T c.962C>T p.T321I Missense 7/22 - 2
1-196654404-C-T c.964+37C>T - IntronicSNV - 7/21 1
1-196654525-T-C c.964+158T>C - IntronicSNV - 7/21 1
1-196655713-T-C c.964+1346T>C - IntronicSNV - 7/21 1
1-196655743-A-C c.964+1376A>C - IntronicSNV - 7/21 2
1-196656205-A-T c.964+1838A>T - IntronicSNV - 7/21 1
1-196656413-GA-G c.964+2048del - IntronicDeletion - 7/21 1
1-196656910-A-G c.965-1640A>G - IntronicSNV - 7/21 1
1-196657064-T-G c.965-1486T>G - IntronicSNV - 7/21 30
1-196658279-T-A c.965-271T>A - IntronicSNV - 7/21 9
1-196658279-T-C c.965-271T>C - IntronicSNV - 7/21 9
1-196658497-G-T c.965-53G>T - IntronicSNV - 7/21 8
1-196658532-T-A c.965-18T>A - IntronicSNV - 7/21 1
1-196658551-G-A c.966G>A p.L322= Synonymous 8/22 - 3
1-196658552-A-C c.967A>C p.K323Q Missense 8/22 - 1
1-196658552-A-G c.967A>G p.K323E Missense 8/22 - 9
1-196658556-C-T c.971C>T p.P324L Missense 8/22 - 3
1-196658557-T-G c.972T>G p.P324= Synonymous 8/22 - 1
1-196658558-TG-AC c.973_974delinsAC p.C325T Missense 8/22 - 1
1-196658559-G-A c.974G>A p.C325Y Missense 8/22 - 4
1-196658561-G-A c.976G>A p.D326N Missense 8/22 - 1
1-196658563-T-G c.978T>G p.D326E Missense 8/22 - 1
1-196658567-C-A c.982C>A p.P328T Missense 8/22 - 1
1-196658567-C-T c.982C>T p.P328S Missense 8/22 - 2
1-196658568-C-T c.983C>T p.P328L Missense 8/22 - 2
1-196658571-A-G c.986A>G p.D329G Missense 8/22 - 1
1-196658571-GACA-G c.986_988del p.D329_I330delinsV MultiAAMissense 8/22 - 1
1-196658572-C-T c.987C>T p.D329= Synonymous 8/22 - 1
1-196658576-A-G c.991A>G p.K331E Missense 8/22 - 1
1-196658579-C-T c.994C>T p.H332Y Missense 8/22 - 1
1-196658582-G-A c.997G>A p.G333R Missense 8/22 - 4
1-196658582-G-C c.997G>C p.G333R Missense 8/22 - 2
1-196658582-GGA-AGC c.997_999delinsAGC p.G333S Missense 8/22 - 1
1-196658582-G-T c.997G>T p.G333* Nonsense 8/22 - 1
1-196658583-G-A c.998G>A p.G333E Missense 8/22 - 1
1-196658586-G-C c.1001G>C p.G334A Missense 8/22 - 2
1-196658588-C-G c.1003C>G p.L335V Missense 8/22 - 2
1-196658590-A-C c.1005A>C p.L335= Synonymous 8/22 - 1
1-196658599-G-A c.1014G>A p.E338= Synonymous 8/22 - 1
1-196658604-T-C c.1019T>C p.M340T Missense 8/22 - 1
1-196658606-CG-GC c.1021_1022delinsGC p.R341A Missense 8/22 - 1
1-196658606-CGT-TGA c.1021_1023delinsTGA p.R341* Nonsense 8/22 - 1
1-196658606-C-T c.1021C>T p.R341C Missense 8/22 - 5
1-196658607-G-A c.1022G>A p.R341H Missense 8/22 - 12
1-196658607-G-T c.1022G>T p.R341L Missense 8/22 - 4
1-196658609-A-G c.1024A>G p.R342G Missense 8/22 - 1
1-196658610-G-A c.1025G>A p.R342K Missense 8/22 - 1
1-196658609-A-C c.1024A>C p.R342= Synonymous 8/22 - 1
1-196658611-A-G c.1026A>G p.R342= Synonymous 8/22 - 1
1-196658612-C-T c.1027C>T p.P343S Missense 8/22 - 2
1-196658616-A-T c.1031A>T p.Y344F Missense 8/22 - 1
1-196658619-T-C c.1034T>C p.F345S Missense 8/22 - 1
1-196658621-C-T c.1036C>T p.P346S Missense 8/22 - 1
1-196658622-C-A c.1037C>A p.P346Q Missense 8/22 - 1
1-196658624-G-A c.1039G>A p.V347I Missense 8/22 - 1
1-196658627-GC-TG c.1042_1043delinsTG p.A348C Missense 8/22 - 1
1-196658629-T-A c.1044T>A p.A348= Synonymous 8/22 - 2
1-196658629-T-C c.1044T>C p.A348= Synonymous 8/22 - 2
1-196658629-T-G c.1044T>G p.A348= Synonymous 8/22 - 2
1-196658632-TA-T c.1047del p.G350Efs*63 UnclassifiedDeletion 8/22 - 1
1-196658634-G-A c.1049G>A p.G350E Missense 8/22 - 4
1-196658639-TAT-AAG c.1054_1056delinsAAG p.Y352K Missense 8/22 - 1
1-196658640-A-G c.1055A>G p.Y352C Missense 8/22 - 1
1-196658641-T-A c.1056T>A p.Y352* Nonsense 8/22 - 1
1-196658647-C-A c.1062C>A p.S354= Synonymous 8/22 - 2
1-196658647-C-G c.1062C>G p.S354= Synonymous 8/22 - 2
1-196658647-C-T c.1062C>T p.S354= Synonymous 8/22 - 2
1-196658649-A-C c.1064A>C p.Y355S Missense 8/22 - 2
1-196658649-A-G c.1064A>G p.Y355C Missense 8/22 - 1
1-196658654-CTGT-C c.1069_1071del p.C357del InFrameDeletion 8/22 - 1
1-196658654-T-A c.1069T>A p.C357S Missense 8/22 - 3
1-196658655-G-C c.1070G>C p.C357S Missense 8/22 - 1
1-196658656-T-G c.1071T>G p.C357W Missense 8/22 - 2
1-196658658-A-C c.1073A>C p.D358A Missense 8/22 - 1
1-196658658-A-G c.1073A>G p.D358G Missense 8/22 - 1
1-196658659-T-A c.1074T>A p.D358E Missense 8/22 - 1
1-196658659-T-G c.1074T>G p.D358E Missense 8/22 - 1
1-196658660-G-A c.1075G>A p.E359K Missense 8/22 - 6
1-196658660-G-T c.1075G>T p.E359* Nonsense 8/22 - 3
1-196658664-A-G c.1079A>G p.H360R Missense 8/22 - 2
1-196658669-G-A c.1084G>A p.E362K Missense 8/22 - 1
1-196658669-G-C c.1084G>C p.E362Q Missense 8/22 - 1
1-196658671-G-C c.1086G>C p.E362D Missense 8/22 - 1
1-196658671-G-T c.1086G>T p.E362D Missense 8/22 - 1
1-196658674-T-A c.1089T>A p.T363= Synonymous 8/22 - 1
1-196658674-T-C c.1089T>C p.T363= Synonymous 8/22 - 1
1-196658674-T-G c.1089T>G p.T363= Synonymous 8/22 - 1
1-196658675-C-A c.1090C>A p.P364T Missense 8/22 - 4
1-196658676-C-T c.1091C>T p.P364L Missense 8/22 - 2
1-196658682-G-A c.1097G>A p.G366E Missense 8/22 - 1
1-196658684-A-C c.1099A>C p.S367R Missense 8/22 - 2
1-196658684-A-G c.1099A>G p.S367G Missense 8/22 - 2
1-196658685-G-C c.1100G>C p.S367T Missense 8/22 - 1
1-196658687-T-C c.1102T>C p.Y368H Missense 8/22 - 1
1-196658689-C-G c.1104C>G p.Y368* Nonsense 8/22 - 1
1-196658691-G-A c.1106G>A p.W369* Nonsense 8/22 - 1
1-196658693-G-A c.1108G>A p.D370N Missense 8/22 - 1
1-196658696-C-A c.1111C>A p.H371N Missense 8/22 - 3
1-196658696-C-T c.1111C>T p.H371Y Missense 8/22 - 2
1-196658697-A-G c.1112A>G p.H371R Missense 8/22 - 1
1-196658699-A-G c.1114A>G p.I372V Missense 8/22 - 2
1-196658702-C-T c.1117C>T p.H373Y Missense 8/22 - 3
1-196658703-A-G c.1118A>G p.H373R Missense 8/22 - 1
1-196658705-T-G c.1120T>G p.C374G Missense 8/22 - 3
1-196658708-A-G c.1123A>G p.T375A Missense 8/22 - 1
1-196658709-CA-TG c.1124_1125inv p.T375M Missense 8/22 - 1
1-196658709-C-T c.1124C>T p.T375I Missense 8/22 - 1
1-196658711-C-A c.1126C>A p.Q376K Missense 8/22 - 1
1-196658711-C-T c.1126C>T p.Q376* Nonsense 8/22 - 2
1-196658714-G-C c.1129G>C p.D377H Missense 8/22 - 1
1-196658715-A-T c.1130A>T p.D377V Missense 8/22 - 2
1-196658716-T-A c.1131T>A p.D377E Missense 8/22 - 1
1-196658719-A-C c.1134A>C p.G378= Synonymous 8/22 - 1
1-196658719-A-G c.1134A>G p.G378= Synonymous 8/22 - 1
1-196658719-A-T c.1134A>T p.G378= Synonymous 8/22 - 1
1-196658720-T-A c.1135T>A p.W379R Missense 8/22 - 2
1-196658720-T-C c.1135T>C p.W379R Missense 8/22 - 3
1-196658724-C-T c.1139C>T p.S380L Missense 8/22 - 5
1-196658725-G-A c.1140G>A p.S380= Synonymous 8/22 - 1
1-196658728-A-C c.1143A>C p.P381= Synonymous 8/22 - 1
1-196658728-A-G c.1143A>G p.P381= Synonymous 8/22 - 1
1-196658729-G-A c.1144G>A p.A382T Missense 8/22 - 1
1-196658732-G-T c.1147G>T p.V383L Missense 8/22 - 1
1-196658733-T-C c.1148T>C p.V383A Missense 8/22 - 1
1-196658735-C-T c.1150C>T p.P384S Missense 8/22 - 1
1-196658738-T-C c.1153T>C p.C385R Missense 8/22 - 2
1-196658738-T-G c.1153T>G p.C385G Missense 8/22 - 1
1-196658739-G-A c.1154G>A p.C385Y Missense 8/22 - 1
1-196658742-T-C c.1157T>C p.L386P Missense 8/22 - 1
1-196658744-A-T c.1159A>T p.R387* Nonsense 8/22 - 1
1-196658757-C-T c.1159+13C>T - IntronicSNV - 8/21 1
1-196658905-G-A c.1159+161G>A - IntronicSNV - 8/21 4
1-196659193-G-A c.1160G>A p.R387K Missense 9/22 - 4
1-196659198-T-A c.1165T>A p.C389S Missense 9/22 - 2
1-196659198-T-C c.1165T>C p.C389R Missense 9/22 - 1
1-196659198-T-G c.1165T>G p.C389G Missense 9/22 - 1
1-196659199-G-C c.1166G>C p.C389S Missense 9/22 - 2
1-196659199-G-T c.1166G>T p.C389F Missense 9/22 - 2
1-196659200-T-C c.1167T>C p.C389= Synonymous 9/22 - 1
1-196659201-T-C c.1168T>C p.Y390H Missense 9/22 - 3
1-196659212-T-A c.1179T>A p.Y393* Nonsense 9/22 - 1
1-196659212-T-G c.1179T>G p.Y393* Nonsense 9/22 - 1
1-196659215-G-C c.1182G>C p.L394F Missense 9/22 - 1
1-196659215-G-T c.1182G>T p.L394F Missense 9/22 - 2
1-196659221-T-C c.1188T>C p.N396= Synonymous 9/22 - 1
1-196659222-G-A c.1189G>A p.G397R Missense 9/22 - 4
1-196659222-G-C c.1189G>C p.G397R Missense 9/22 - 1
1-196659222-GGA-TGT c.1189_1191delinsTGT p.G397C Missense 9/22 - 2
1-196659222-G-T c.1189G>T p.G397* Nonsense 9/22 - 1
1-196659223-GA-AC c.1190_1191delinsAC p.G397D Missense 9/22 - 1
1-196659224-A-C c.1191A>C p.G397= Synonymous 9/22 - 1
1-196659224-A-G c.1191A>G p.G397= Synonymous 9/22 - 1
1-196659224-A-T c.1191A>T p.G397= Synonymous 9/22 - 1
1-196659226-A-G c.1193A>G p.Y398C Missense 9/22 - 1
1-196659229-A-G c.1196A>G p.N399S Missense 9/22 - 2
1-196659231-C-A c.1198C>A p.Q400K Missense 9/22 - 20
1-196659232-A-C c.1199A>C p.Q400P Missense 9/22 - 1
1-196659237-C-A c.1204C>A p.H402N Missense 9/22 - 1
1-196659237-C-G c.1204C>G p.H402D Missense 9/22 - 1
1-196659237-C-T c.1204C>T p.H402Y Missense 9/22 - 620
1-196659238-A-G c.1205A>G p.H402R Missense 9/22 - 1
1-196659239-T-C c.1206T>C p.H402= Synonymous 9/22 - 1
1-196659240-G-T c.1207G>T p.G403* Nonsense 9/22 - 1
1-196659241-G-A c.1208G>A p.G403E Missense 9/22 - 1
1-196659244-G-T c.1211G>T p.R404I Missense 9/22 - 2
1-196659246-A-G c.1213A>G p.K405E Missense 9/22 - 1
1-196659248-G-C c.1215G>C p.K405N Missense 9/22 - 2
1-196659248-G-T c.1215G>T p.K405N Missense 9/22 - 1
1-196659249-T-G c.1216T>G p.F406V Missense 9/22 - 1
1-196659250-T-A c.1217T>A p.F406Y Missense 9/22 - 1
1-196659248-G-GT c.1218dup p.V407Cfs*4 Frameshift 9/22 - 1
1-196659252-G-C c.1219G>C p.V407L Missense 9/22 - 1
1-196659252-G-T c.1219G>T p.V407L Missense 9/22 - 1
1-196659255-C-T c.1222C>T p.Q408* Nonsense 9/22 - 9
1-196659257-G-A c.1224G>A p.Q408= Synonymous 9/22 - 1
1-196659258-G-T c.1225G>T p.G409C Missense 9/22 - 2
1-196659259-G-A c.1226G>A p.G409D Missense 9/22 - 1
1-196659261-A-G c.1228A>G p.K410E Missense 9/22 - 1
1-196659263-A-C c.1230A>C p.K410N Missense 9/22 - 1
1-196659263-A-T c.1230A>T p.K410N Missense 9/22 - 1
1-196659264-T-A c.1231T>A p.S411T Missense 9/22 - 5
1-196659270-G-T c.1237G>T p.D413Y Missense 9/22 - 1
1-196659272-C-T c.1239C>T p.D413= Synonymous 9/22 - 1
1-196659273-G-A c.1240G>A p.V414I Missense 9/22 - 3
1-196659276-G-A c.1243G>A p.A415T Missense 9/22 - 3
1-196659276-GC-TT c.1243_1244delinsTT p.A415F Missense 9/22 - 1
1-196659276-TG-T c.1243del p.A415Pfs*39 Frameshift 9/22 - 1
1-196659278-C-A c.1245C>A p.A415= Synonymous 9/22 - 1
1-196659278-C-G c.1245C>G p.A415= Synonymous 9/22 - 1
1-196659278-C-T c.1245C>T p.A415= Synonymous 9/22 - 1
1-196659281-C-G c.1248C>G p.C416W Missense 9/22 - 1
1-196659281-C-T c.1248C>T p.C416= Synonymous 9/22 - 1
1-196659283-A-G c.1250A>G p.H417R Missense 9/22 - 1
1-196659284-T-A c.1251T>A p.H417Q Missense 9/22 - 1
1-196659284-T-G c.1251T>G p.H417Q Missense 9/22 - 1
1-196659286-C-T c.1253C>T p.P418L Missense 9/22 - 3
1-196659288-G-T c.1255G>T p.G419C Missense 9/22 - 1
1-196659291-T-C c.1258T>C p.Y420H Missense 9/22 - 8
1-196659292-A-T c.1259A>T p.Y420F Missense 9/22 - 1
1-196659293-C-A c.1260C>A p.Y420* Nonsense 9/22 - 2
1-196659293-C-G c.1260C>G p.Y420* Nonsense 9/22 - 1
1-196659293-C-T c.1260C>T p.Y420= Synonymous 9/22 - 4
1-196659295-C-G c.1262C>G p.A421G Missense 9/22 - 1
1-196659296-T-A c.1263T>A p.A421= Synonymous 9/22 - 1
1-196659297-C-A c.1264C>A p.L422I Missense 9/22 - 1
1-196659297-C-G c.1264C>G p.L422V Missense 9/22 - 1
1-196659300-C-T c.1267C>T p.P423S Missense 9/22 - 1
1-196659301-C-T c.1268C>T p.P423L Missense 9/22 - 1
1-196659303-A-C c.1270A>C p.K424Q Missense 9/22 - 2
1-196659301-CA-C c.1272del p.A425Rfs*29 Frameshift 9/22 - 1
1-196659305-A-G c.1272A>G p.K424= Synonymous 9/22 - 1
1-196659306-G-A c.1273G>A p.A425T Missense 9/22 - 2
1-196659307-C-G c.1274C>G p.A425G Missense 9/22 - 1
1-196659307-C-T c.1274C>T p.A425V Missense 9/22 - 3
1-196659308-G-A c.1275G>A p.A425= Synonymous 9/22 - 2
1-196659308-G-C c.1275G>C p.A425= Synonymous 9/22 - 1
1-196659308-G-T c.1275G>T p.A425= Synonymous 9/22 - 1
1-196659309-C-T c.1276C>T p.Q426* Nonsense 9/22 - 1
1-196659310-A-G c.1277A>G p.Q426R Missense 9/22 - 1
1-196659314-C-A c.1281C>A p.T427= Synonymous 9/22 - 1
1-196659314-C-G c.1281C>G p.T427= Synonymous 9/22 - 1
1-196659314-C-T c.1281C>T p.T427= Synonymous 9/22 - 1
1-196659317-A-C c.1284A>C p.T428= Synonymous 9/22 - 4
1-196659317-A-G c.1284A>G p.T428= Synonymous 9/22 - 4
1-196659317-A-T c.1284A>T p.T428= Synonymous 9/22 - 3
1-196659319-T-C c.1286T>C p.V429A Missense 9/22 - 1
1-196659321-A-C c.1288A>C p.T430P Missense 9/22 - 1
1-196659324-T-A c.1291T>A p.C431S Missense 9/22 - 8
1-196659325-G-C c.1292G>C p.C431S Missense 9/22 - 6
1-196659325-G-A c.1292G>A p.C431Y Missense 9/22 - 9
1-196659329-G-A c.1296G>A p.M432I Missense 9/22 - 2
1-196659329-G-C c.1296G>C p.M432I Missense 9/22 - 1
1-196659329-G-T c.1296G>T p.M432I Missense 9/22 - 1
1-196659330-G-A c.1297G>A p.E433K Missense 9/22 - 1
1-196659331-A-C c.1298A>C p.E433A Missense 9/22 - 1
1-196659332-G-A c.1299G>A p.E433= Synonymous 9/22 - 1
1-196659332-G-T c.1299G>T p.E433D Missense 9/22 - 1
1-196659333-A-C c.1300A>C p.N434H Missense 9/22 - 1
1-196659338-C-A c.1305C>A p.G435= Synonymous 9/22 - 1
1-196659338-C-G c.1305C>G p.G435= Synonymous 9/22 - 1
1-196659338-C-T c.1305C>T p.G435= Synonymous 9/22 - 1
1-196659341-G-C c.1308G>C p.W436C Missense 9/22 - 2
1-196659341-G-T c.1308G>T p.W436C Missense 9/22 - 2
1-196659345-C-A c.1312C>A p.P438T Missense 9/22 - 4
1-196659346-C-T c.1313C>T p.P438L Missense 9/22 - 1
1-196659351-C-A c.1318C>A p.P440T Missense 9/22 - 1
1-196659351-C-G c.1318C>G p.P440A Missense 9/22 - 1
1-196659351-TCCCAGATGCA-T c.1318_1327del p.P440Sfs*11 Frameshift 9/22 - 1
1-196659354-A-G c.1321A>G p.R441G Missense 9/22 - 1
1-196659354-AGA-CAT c.1321_1323delinsCAT p.R441H Missense 9/22 - 1
1-196659354-AGA-TGT c.1321_1323delinsTGT p.R441C Missense 9/22 - 1
1-196659355-G-T c.1322G>T p.R441I Missense 9/22 - 1
1-196659362-C-A c.1329C>A p.I443= Synonymous 9/22 - 1
1-196659363-C-T c.1330C>T p.R444C Missense 9/22 - 1
1-196659367-T-C c.1334T>C p.V445A Missense 9/22 - 1
1-196659753-T-C c.1336+384T>C - IntronicSNV - 9/21 2
1-196660261-A-G c.1336+892A>G - IntronicSNV - 9/21 19
1-196660455-G-C c.1336+1086G>C - IntronicSNV - 9/21 1
1-196660456-G-A c.1336+1087G>A - IntronicSNV - 9/21 1
1-196660464-A-G c.1336+1095A>G - IntronicSNV - 9/21 3
1-196660995-A-T c.1336+1626A>T - IntronicSNV - 9/21 1
1-196661181-A-G c.1336+1812A>G - IntronicSNV - 9/21 2
1-196661538-A-G c.1336+2169A>G - IntronicSNV - 9/21 1
1-196661538-A-T c.1336+2169A>T - IntronicSNV - 9/21 1
1-196661613-G-T c.1336+2244G>T - IntronicSNV - 9/21 1
1-196661832-CT-C c.1336+2466del - IntronicDeletion - 9/21 1
1-196662031-C-A c.1336+2662C>A - IntronicSNV - 9/21 1
1-196662031-C-T c.1336+2662C>T - IntronicSNV - 9/21 1
1-196662459-T-C c.1336+3090T>C - IntronicSNV - 9/21 5
1-196663913-C-T c.1336+4544C>T - IntronicSNV - 9/21 1
1-196664651-C-T c.1336+5282C>T - IntronicSNV - 9/21 2
1-196664793-T-G c.1336+5424T>G - IntronicSNV - 9/21 1
1-196667729-A-T c.1336+8360A>T - IntronicSNV - 9/21 1
1-196667944-C-A c.1336+8575C>A - IntronicSNV - 9/21 1
1-196667944-C-G c.1336+8575C>G - IntronicSNV - 9/21 1
1-196667944-C-T c.1336+8575C>T - IntronicSNV - 9/21 1
1-196668287-C-T c.1336+8918C>T - IntronicSNV - 9/21 1
1-196670227-AT-A c.1336+10858del - IntronicDeletion - 9/21 1
1-196670398-T-G c.1336+11029T>G - IntronicSNV - 9/21 1
1-196670425-A-G c.1336+11056A>G - IntronicSNV - 9/21 1
1-196670472-G-A c.1336+11103G>A - IntronicSNV - 9/21 1
1-196670472-G-T c.1336+11103G>T - IntronicSNV - 9/21 1
1-196670494-G-C c.1336+11125G>C - IntronicSNV - 9/21 1
1-196670520-A-G c.1336+11151A>G - IntronicSNV - 9/21 1
1-196670757-C-T c.1336+11388C>T - IntronicSNV - 9/21 6
1-196670839-A-G c.1336+11470A>G - IntronicSNV - 9/21 3
1-196671118-G-A c.1337-11747G>A - IntronicSNV - 9/21 1
1-196671986-G-A c.1337-10879G>A - IntronicSNV - 9/21 1
1-196672454-G-A c.1337-10411G>A - IntronicSNV - 9/21 7
1-196672473-C-T c.1337-10392C>T - IntronicSNV - 9/21 1
1-196673802-C-T c.1337-9063C>T - IntronicSNV - 9/21 1
1-196673993-A-C c.1337-8872A>C - IntronicSNV - 9/21 6
1-196674270-C-T c.1337-8595C>T - IntronicSNV - 9/21 4
1-196674714-T-A c.1337-8151T>A - IntronicSNV - 9/21 10
1-196674917-T-C c.1337-7948T>C - IntronicSNV - 9/21 2
1-196674982-G-A c.1337-7883G>A - IntronicSNV - 9/21 16
1-196675179-G-A c.1337-7686G>A - IntronicSNV - 9/21 1
1-196675179-G-C c.1337-7686G>C - IntronicSNV - 9/21 1
1-196675179-G-T c.1337-7686G>T - IntronicSNV - 9/21 1
1-196675571-A-G c.1337-7294A>G - IntronicSNV - 9/21 2
1-196675861-A-G c.1337-7004A>G - IntronicSNV - 9/21 11
1-196676105-A-T c.1337-6760A>T - IntronicSNV - 9/21 1
1-196676935-A-C c.1337-5930A>C - IntronicSNV - 9/21 5
1-196676935-A-T c.1337-5930A>T - IntronicSNV - 9/21 5
1-196677163-C-A c.1337-5702C>A - IntronicSNV - 9/21 1
1-196677497-ACC-A c.1337-5368_1337-5367del - IntronicDeletion - 9/21 1
1-196677898-A-T c.1337-4967A>T - IntronicSNV - 9/21 1
1-196677945-C-A c.1337-4920C>A - IntronicSNV - 9/21 2
1-196679010-A-G c.1337-3855A>G - IntronicSNV - 9/21 2
1-196679455-A-C c.1337-3410A>C - IntronicSNV - 9/21 49
1-196679927-A-C c.1337-2938A>C - IntronicSNV - 9/21 1
1-196680814-C-T c.1337-2051C>T - IntronicSNV - 9/21 2
1-196682346-G-A c.1337-519G>A - IntronicSNV - 9/21 4
1-196682346-G-C c.1337-519G>C - IntronicSNV - 9/21 4
1-196682518-C-A c.1337-347C>A - IntronicSNV - 9/21 1
1-196682868-C-T c.1340C>T p.T447I Missense 10/22 - 1
1-196682871-G-A c.1343G>A p.C448Y Missense 10/22 - 1
1-196682875-C-T c.1347C>T p.S449= Synonymous 10/22 - 3
1-196682885-A-C c.1357A>C p.I453L Missense 10/22 - 1
1-196682885-A-G c.1357A>G p.I453V Missense 10/22 - 1
1-196682885-A-T c.1357A>T p.I453L Missense 10/22 - 1
1-196682887-TAGA-T c.1359_1361del p.D454del InFrameDeletion 10/22 - 1
1-196682888-G-A c.1360G>A p.D454N Missense 10/22 - 2
1-196682894-G-A c.1366G>A p.E456K Missense 10/22 - 1
1-196682894-G-C c.1366G>C p.E456Q Missense 10/22 - 1
1-196682896-G-T c.1368G>T p.E456D Missense 10/22 - 2
1-196682902-G-A c.1374G>A p.G458= Synonymous 10/22 - 3
1-196682902-G-T c.1374G>T p.G458= Synonymous 10/22 - 1
1-196682903-T-C c.1375T>C p.F459L Missense 10/22 - 2
1-196682905-T-A c.1377T>A p.F459L Missense 10/22 - 2
1-196682905-T-G c.1377T>G p.F459L Missense 10/22 - 2
1-196682906-A-G c.1378A>G p.I460V Missense 10/22 - 1
1-196682912-G-A c.1384G>A p.E462K Missense 10/22 - 2
1-196682912-TG-T c.1384del p.E462Nfs*8 Frameshift 10/22 - 1
1-196682924-ACA-TGT c.1396_1398inv p.T466C Missense 10/22 - 1
1-196682924-A-G c.1396A>G p.T466A Missense 10/22 - 1
1-196682925-C-T c.1397C>T p.T466I Missense 10/22 - 1
1-196682928-A-G c.1400A>G p.Y467C Missense 10/22 - 3
1-196682928-A-T c.1400A>T p.Y467F Missense 10/22 - 1
1-196682931-C-A c.1403C>A p.A468D Missense 10/22 - 2
1-196682931-C-T c.1403C>T p.A468V Missense 10/22 - 6
1-196682932-C-T c.1404C>T p.A468= Synonymous 10/22 - 2
1-196682936-A-T c.1408A>T p.K470* Nonsense 10/22 - 1
1-196682938-A-G c.1410A>G p.K470= Synonymous 10/22 - 5
1-196682939-G-A c.1411G>A p.E471K Missense 10/22 - 4
1-196682939-G-T c.1411G>T p.E471* Nonsense 10/22 - 1
1-196682945-G-A c.1417G>A p.A473T Missense 10/22 - 1
1-196682946-C-G c.1418C>G p.A473G Missense 10/22 - 1
1-196682946-C-T c.1418C>T p.A473V Missense 10/22 - 6
1-196682947-G-A c.1419G>A p.A473= Synonymous 10/22 - 95
1-196682947-G-C c.1419G>C p.A473= Synonymous 10/22 - 96
1-196682947-G-T c.1419G>T p.A473= Synonymous 10/22 - 96
1-196682947-GA-G c.1422del p.K474Nfs*6 Frameshift 10/22 - 1
1-196682950-A-C c.1422A>C p.K474N Missense 10/22 - 1
1-196682951-T-A c.1423T>A p.Y475N Missense 10/22 - 1
1-196682951-T-C c.1423T>C p.Y475H Missense 10/22 - 1
1-196682952-A-C c.1424A>C p.Y475S Missense 10/22 - 3
1-196682957-T-C c.1429T>C p.C477R Missense 10/22 - 1
1-196682957-TG-AC c.1429_1430delinsAC p.C477T Missense 10/22 - 1
1-196682957-TG-GC c.1429_1430delinsGC p.C477A Missense 10/22 - 1
1-196682958-G-A c.1430G>A p.C477Y Missense 10/22 - 3
1-196682959-C-T c.1431C>T p.C477= Synonymous 10/22 - 1
1-196682968-A-C c.1440A>C p.G480= Synonymous 10/22 - 1
1-196682968-A-G c.1440A>G p.G480= Synonymous 10/22 - 1
1-196682968-A-T c.1440A>T p.G480= Synonymous 10/22 - 1
1-196682970-A-T c.1442A>T p.Y481F Missense 10/22 - 1
1-196682972-G-A c.1444G>A p.V482I Missense 10/22 - 1
1-196682977-A-C c.1449A>C p.T483= Synonymous 10/22 - 1
1-196682979-C-T c.1451C>T p.A484V Missense 10/22 - 1
1-196682980-CA-C c.1452del p.D485Mfs*31 Frameshift 10/22 - 1
1-196682982-A-G c.1454A>G p.D485G Missense 10/22 - 3
1-196682984-G-T c.1456G>T p.G486C Missense 10/22 - 1
1-196682985-G-A c.1457G>A p.G486D Missense 10/22 - 3
1-196682985-GGTGA-G c.1457_1460del p.G486Efs*29 Frameshift 10/22 - 1
1-196682987-G-A c.1459G>A p.E487K Missense 10/22 - 2
1-196682990-A-G c.1462A>G p.T488A Missense 10/22 - 1
1-196682996-G-T c.1468G>T p.G490* Nonsense 10/22 - 1
1-196682997-G-A c.1469G>A p.G490E Missense 10/22 - 1
1-196682999-TCA-AAC c.1471_1473delinsAAC p.S491N Missense 10/22 - 1
1-196683000-C-T c.1472C>T p.S491L Missense 10/22 - 2
1-196683001-A-G c.1473A>G p.S491= Synonymous 10/22 - 1
1-196683002-A-C c.1474A>C p.I492L Missense 10/22 - 2
1-196683006-C-G c.1478C>G p.T493R Missense 10/22 - 2
1-196683006-C-T c.1478C>T p.T493I Missense 10/22 - 1
1-196683008-T-C c.1480T>C p.C494R Missense 10/22 - 1
1-196683008-TG-AC c.1480_1481delinsAC p.C494T Missense 10/22 - 1
1-196683010-T-A c.1482T>A p.C494* Nonsense 10/22 - 1
1-196683013-G-A c.1485G>A p.G495= Synonymous 10/22 - 6
1-196683017-G-C c.1489G>C p.D497H Missense 10/22 - 1
1-196683020-G-T c.1492G>T p.G498* Nonsense 10/22 - 1
1-196683021-G-A c.1493G>A p.G498E Missense 10/22 - 8
1-196683022-A-C c.1494A>C p.G498= Synonymous 10/22 - 3
1-196683022-A-G c.1494A>G p.G498= Synonymous 10/22 - 3
1-196683022-A-T c.1494A>T p.G498= Synonymous 10/22 - 4
1-196683027-C-A c.1499C>A p.S500* Nonsense 10/22 - 1
1-196683027-C-T c.1499C>T p.S500L Missense 10/22 - 1
1-196683032-C-T c.1504C>T p.Q502* Nonsense 10/22 - 4
1-196683035-C-G c.1507C>G p.P503A Missense 10/22 - 14
1-196683035-C-T c.1507C>T p.P503S Missense 10/22 - 5
1-196683036-C-A c.1508C>A p.P503H Missense 10/22 - 1
1-196683036-C-G c.1508C>G p.P503R Missense 10/22 - 1
1-196683039-C-A c.1511C>A p.T504K Missense 10/22 - 2
1-196683039-C-T c.1511C>T p.T504M Missense 10/22 - 1
1-196683041-TG-GC c.1513_1514delinsGC p.C505A Missense 10/22 - 1
1-196683044-A-AT c.1518dup p.K507* SpliceDonorInsertion 10/22 - 1
1-196683046-T-TC c.1518_1519insC p.K507Qfs*4 SpliceDonorInsertion 10/22 - 1
1-196683046-T-TG c.1518_1519insG p.K507Efs*4 SpliceDonorInsertion 10/22 - 1
1-196683048-G-T c.1519+1G>T - IntronicSNV - 10/21 1
1-196683215-A-G c.1519+168A>G - IntronicSNV - 10/21 1
1-196683274-A-G c.1519+227A>G - IntronicSNV - 10/21 2
1-196683305-G-C c.1519+258G>C - IntronicSNV - 10/21 1
1-196683800-G-T c.1519+753G>T - IntronicSNV - 10/21 1
1-196684313-AT-A c.1520-406del - IntronicDeletion - 10/21 1
1-196684574-C-T c.1520-149C>T - IntronicSNV - 10/21 1
1-196684575-A-G c.1520-148A>G - IntronicSNV - 10/21 2
1-196684625-G-T c.1520-98G>T - IntronicSNV - 10/21 16
1-196684723-A-C c.1520A>C p.K507T Missense 11/22 - 1
1-196684722-GA-G c.1521del p.K507Nfs*9 Frameshift 11/22 - 1
1-196684726-C-A c.1523C>A p.S508Y Missense 11/22 - 1
1-196684728-TG-AC c.1525_1526delinsAC p.C509T Missense 11/22 - 1
1-196684729-G-A c.1526G>A p.C509Y Missense 11/22 - 1
1-196684731-G-C c.1528G>C p.D510H Missense 11/22 - 3
1-196684736-C-A c.1533C>A p.I511= Synonymous 11/22 - 1
1-196684736-C-T c.1533C>T p.I511= Synonymous 11/22 - 1
1-196684737-C-T c.1534C>T p.P512S Missense 11/22 - 2
1-196684738-C-T c.1535C>T p.P512L Missense 11/22 - 2
1-196684741-T-C c.1538T>C p.V513A Missense 11/22 - 1
1-196684742-A-C c.1539A>C p.V513= Synonymous 11/22 - 2
1-196684742-A-G c.1539A>G p.V513= Synonymous 11/22 - 2
1-196684742-A-T c.1539A>T p.V513= Synonymous 11/22 - 2
1-196684744-T-G c.1541T>G p.F514C Missense 11/22 - 2
1-196684748-G-A c.1545G>A p.M515I Missense 11/22 - 2
1-196684749-A-G c.1546A>G p.N516D Missense 11/22 - 1
1-196684750-A-G c.1547A>G p.N516S Missense 11/22 - 4
1-196684751-T-A c.1548T>A p.N516K Missense 11/22 - 21
1-196684751-T-C c.1548T>C p.N516= Synonymous 11/22 - 4
1-196684751-T-G c.1548T>G p.N516K Missense 11/22 - 9
1-196684753-C-A c.1550C>A p.A517D Missense 11/22 - 1
1-196684753-C-G c.1550C>G p.A517G Missense 11/22 - 1
1-196684753-C-T c.1550C>T p.A517V Missense 11/22 - 1
1-196684755-A-G c.1552A>G p.R518G Missense 11/22 - 1
1-196684756-G-A c.1553G>A p.R518K Missense 11/22 - 2
1-196684758-A-G c.1555A>G p.T519A Missense 11/22 - 1
1-196684759-C-A c.1556C>A p.T519N Missense 11/22 - 1
1-196684764-A-G c.1561A>G p.N521D Missense 11/22 - 1
1-196684760-T-TA c.1562dup p.N521Kfs*2 Frameshift 11/22 - 1
1-196684765-A-C c.1562A>C p.N521T Missense 11/22 - 1
1-196684766-T-C c.1563T>C p.N521= Synonymous 11/22 - 1
1-196684767-G-A c.1564G>A p.D522N Missense 11/22 - 3
1-196684767-G-T c.1564G>T p.D522Y Missense 11/22 - 1
1-196684768-A-G c.1565A>G p.D522G Missense 11/22 - 1
1-196684769-C-A c.1566C>A p.D522E Missense 11/22 - 8
1-196684769-C-G c.1566C>G p.D522E Missense 11/22 - 5
1-196684770-T-C c.1567T>C p.F523L Missense 11/22 - 1
1-196684772-C-A c.1569C>A p.F523L Missense 11/22 - 1
1-196684772-C-G c.1569C>G p.F523L Missense 11/22 - 1
1-196684771-T-A c.1568T>A p.F523Y Missense 11/22 - 1
1-196684773-A-G c.1570A>G p.T524A Missense 11/22 - 1
1-196684775-A-G c.1572A>G p.T524= Synonymous 11/22 - 1
1-196684777-G-A c.1574G>A p.W525* Nonsense 11/22 - 1
1-196684783-A-C c.1580A>C p.K527T Missense 11/22 - 2
1-196684784-G-C c.1581G>C p.K527N Missense 11/22 - 1
1-196684784-G-T c.1581G>T p.K527N Missense 11/22 - 2
1-196684788-AAT-TAA c.1585_1587delinsTAA p.N529* Nonsense 11/22 - 1
1-196684788-A-G c.1585A>G p.N529D Missense 11/22 - 1
1-196684791-G-T c.1588G>T p.D530Y Missense 11/22 - 1
1-196684792-A-T c.1589A>T p.D530V Missense 11/22 - 1
1-196684794-A-G c.1591A>G p.T531A Missense 11/22 - 1
1-196684798-T-C c.1595T>C p.L532S Missense 11/22 - 1
1-196684801-A-G c.1598A>G p.D533G Missense 11/22 - 2
1-196684804-A-T c.1601A>T p.Y534F Missense 11/22 - 1
1-196684806-G-T c.1603G>T p.E535* Nonsense 11/22 - 5
1-196684807-A-G c.1604A>G p.E535G Missense 11/22 - 1
1-196684809-T-C c.1606T>C p.C536R Missense 11/22 - 6
1-196684810-G-A c.1607G>A p.C536Y Missense 11/22 - 1
1-196684811-GCC-G c.1608_1609del p.C536* Frameshift 11/22 - 1
1-196684812-C-A c.1609C>A p.H537N Missense 11/22 - 1
1-196684814-T-A c.1611T>A p.H537Q Missense 11/22 - 3
1-196684814-T-G c.1611T>G p.H537Q Missense 11/22 - 1
1-196684815-G-A c.1612G>A p.D538N Missense 11/22 - 1
1-196684815-G-T c.1612G>T p.D538Y Missense 11/22 - 3
1-196684817-T-G c.1614T>G p.D538E Missense 11/22 - 1
1-196684818-G-C c.1615G>C p.G539R Missense 11/22 - 1
1-196684820-T-A c.1617T>A p.G539= Synonymous 11/22 - 1
1-196684820-T-C c.1617T>C p.G539= Synonymous 11/22 - 2
1-196684820-T-G c.1617T>G p.G539= Synonymous 11/22 - 1
1-196684824-G-A c.1621G>A p.E541K Missense 11/22 - 5
1-196684825-A-G c.1622A>G p.E541G Missense 11/22 - 1
1-196684826-A-C c.1623A>C p.E541D Missense 11/22 - 1
1-196684826-A-G c.1623A>G p.E541= Synonymous 11/22 - 1
1-196684828-G-A c.1625G>A p.S542N Missense 11/22 - 2
1-196684834-C-T c.1631C>T p.T544I Missense 11/22 - 1
1-196684837-G-A c.1634G>A p.G545E Missense 11/22 - 2
1-196684840-G-A c.1637G>A p.S546N Missense 11/22 - 2
1-196684839-A-C c.1636A>C p.S546R Missense 11/22 - 1
1-196684841-C-A c.1638C>A p.S546R Missense 11/22 - 1
1-196684841-C-G c.1638C>G p.S546R Missense 11/22 - 1
1-196684843-C-A c.1640C>A p.T547N Missense 11/22 - 4
1-196684843-C-G c.1640C>G p.T547S Missense 11/22 - 1
1-196684844-C-A c.1641C>A p.T547= Synonymous 11/22 - 1
1-196684844-C-T c.1641C>T p.T547= Synonymous 11/22 - 1
1-196684845-A-T c.1642A>T p.T548S Missense 11/22 - 5
1-196684846-C-G c.1643C>G p.T548S Missense 11/22 - 8
1-196684852-C-T c.1649C>T p.S550F Missense 11/22 - 1
1-196684854-A-G c.1651A>G p.I551V Missense 11/22 - 1
1-196684855-T-C c.1652T>C p.I551T Missense 11/22 - 8
1-196684857-G-A c.1654G>A p.V552M Missense 11/22 - 1
1-196684857-G-C c.1654G>C p.V552L Missense 11/22 - 1
1-196684857-GTG-ATC c.1654_1656delinsATC p.V552I Missense 11/22 - 1
1-196684858-T-A c.1655T>A p.V552E Missense 11/22 - 1
1-196684859-G-A c.1656G>A p.V552= Synonymous 11/22 - 1
1-196684859-G-C c.1656G>C p.V552= Synonymous 11/22 - 1
1-196684863-G-A c.1660G>A p.G554S Missense 11/22 - 5
1-196684863-G-T c.1660G>T p.G554C Missense 11/22 - 1
1-196684865-T-C c.1662T>C p.G554= Synonymous 11/22 - 1
1-196684866-T-G c.1663T>G p.Y555D Missense 11/22 - 1
1-196684867-A-T c.1664A>T p.Y555F Missense 11/22 - 1
1-196684870-A-G c.1667A>G p.N556S Missense 11/22 - 1
1-196684870-A-T c.1667A>T p.N556I Missense 11/22 - 2
1-196684870-ATGG-A c.1669_1671del p.G557del InFrameDeletion 11/22 - 2
1-196684872-G-A c.1669G>A p.G557S Missense 11/22 - 1
1-196684872-G-C c.1669G>C p.G557R Missense 11/22 - 6
1-196684873-G-T c.1670G>T p.G557V Missense 11/22 - 2
1-196684881-G-A c.1678G>A p.D560N Missense 11/22 - 2
1-196684882-A-G c.1679A>G p.D560G Missense 11/22 - 3
1-196684882-A-T c.1679A>T p.D560V Missense 11/22 - 1
1-196684884-T-A c.1681T>A p.L561I Missense 11/22 - 1
1-196684888-C-A c.1685C>A p.P562H Missense 11/22 - 1
1-196684888-C-T c.1685C>T p.P562L Missense 11/22 - 1
1-196684889-C-T c.1686C>T p.P562= Synonymous 11/22 - 4
1-196684891-T-C c.1688T>C p.I563T Missense 11/22 - 4
1-196684894-G-T c.1691G>T p.C564F Missense 11/22 - 1
1-196684895-T-C c.1692T>C p.C564= Synonymous 11/22 - 1
1-196684897-A-G c.1694A>G p.Y565C Missense 11/22 - 1
1-196684899-G-A c.1696G>A p.E566K Missense 11/22 - 2
1-196686652-A-G c.1696+1753A>G - IntronicSNV - 11/21 4
1-196686652-A-T c.1696+1753A>T - IntronicSNV - 11/21 4
1-196686918-G-A c.1696+2019G>A - IntronicSNV - 11/21 79
1-196687329-A-T c.1696+2430A>T - IntronicSNV - 11/21 1
1-196687515-G-A c.1696+2616G>A - IntronicSNV - 11/21 7
1-196687730-A-C c.1696+2831A>C - IntronicSNV - 11/21 1
1-196687730-A-G c.1696+2831A>G - IntronicSNV - 11/21 1
1-196690250-A-C c.1697-4001A>C - IntronicSNV - 11/21 1
1-196690250-A-T c.1697-4001A>T - IntronicSNV - 11/21 1
1-196691464-A-G c.1697-2787A>G - IntronicSNV - 11/21 1
1-196691625-C-A c.1697-2626C>A - IntronicSNV - 11/21 2
1-196691625-C-T c.1697-2626C>T - IntronicSNV - 11/21 2
1-196692148-C-T c.1697-2103C>T - IntronicSNV - 11/21 2
1-196692378-T-C c.1697-1873T>C - IntronicSNV - 11/21 1
1-196692470-C-A c.1697-1781C>A - IntronicSNV - 11/21 7
1-196692672-A-G c.1697-1579A>G - IntronicSNV - 11/21 2
1-196693088-G-A c.1697-1163G>A - IntronicSNV - 11/21 1
1-196693088-G-T c.1697-1163G>T - IntronicSNV - 11/21 1
1-196693451-A-G c.1697-800A>G - IntronicSNV - 11/21 7
1-196694236-T-C c.1697-15T>C - IntronicSNV - 11/21 1
1-196694237-T-C c.1697-14T>C - IntronicSNV - 11/21 1
1-196694238-T-C c.1697-13T>C - IntronicSNV - 11/21 1
1-196694240-C-A c.1697-11C>A - IntronicSNV - 11/21 1
1-196694240-C-T c.1697-11C>T - IntronicSNV - 11/21 1
1-196694241-C-T c.1697-10C>T - IntronicSNV - 11/21 1
1-196694251-A-C c.1697A>C p.E566A Missense 12/22 - 8
1-196694252-A-C c.1698A>C p.E566D Missense 12/22 - 3
1-196694252-A-T c.1698A>T p.E566D Missense 12/22 - 5
1-196694253-A-G c.1699A>G p.R567G Missense 12/22 - 6
1-196694253-AG-CA c.1699_1700delinsCA p.R567Q Missense 12/22 - 1
1-196694254-G-A c.1700G>A p.R567K Missense 12/22 - 1
1-196694254-G-C c.1700G>C p.R567T Missense 12/22 - 1
1-196694254-G-T c.1700G>T p.R567I Missense 12/22 - 1
1-196694253-A-C c.1699A>C p.R567= Synonymous 12/22 - 1
1-196694255-A-G c.1701A>G p.R567= Synonymous 12/22 - 1
1-196694256-G-A c.1702G>A p.E568K Missense 12/22 - 2
1-196694259-T-C c.1705T>C p.C569R Missense 12/22 - 1
1-196694261-C-T c.1707C>T p.C569= Synonymous 12/22 - 2
1-196694262-G-A c.1708G>A p.E570K Missense 12/22 - 9
1-196694265-C-T c.1711C>T p.L571F Missense 12/22 - 1
1-196694268-C-T c.1714C>T p.P572S Missense 12/22 - 8
1-196694271-A-C c.1717A>C p.K573Q Missense 12/22 - 1
1-196694275-T-C c.1721T>C p.I574T Missense 12/22 - 1
1-196694278-A-T c.1724A>T p.D575V Missense 12/22 - 1
1-196694280-G-C c.1726G>C p.V576L Missense 12/22 - 1
1-196694280-GTA-ATG c.1726_1728delinsATG p.V576M Missense 12/22 - 1
1-196694289-G-A c.1735G>A p.V579I Missense 12/22 - 1
1-196694289-G-T c.1735G>T p.V579F Missense 12/22 - 1
1-196694290-T-C c.1736T>C p.V579A Missense 12/22 - 2
1-196694292-C-T c.1738C>T p.P580S Missense 12/22 - 6
1-196694293-C-T c.1739C>T p.P580L Missense 12/22 - 2
1-196694295-G-A c.1741G>A p.D581N Missense 12/22 - 4
1-196694298-C-T c.1744C>T p.R582C Missense 12/22 - 12
1-196694299-G-A c.1745G>A p.R582H Missense 12/22 - 7
1-196694299-G-T c.1745G>T p.R582L Missense 12/22 - 1
1-196694302-A-C c.1748A>C p.K583T Missense 12/22 - 1
1-196694302-A-G c.1748A>G p.K583R Missense 12/22 - 1
1-196694303-G-C c.1749G>C p.K583N Missense 12/22 - 2
1-196694303-G-T c.1749G>T p.K583N Missense 12/22 - 1
1-196694304-A-G c.1750A>G p.K584E Missense 12/22 - 1
1-196694304-A-T c.1750A>T p.K584* Nonsense 12/22 - 1
1-196694307-G-A c.1753G>A p.D585N Missense 12/22 - 8
1-196694307-G-T c.1753G>T p.D585Y Missense 12/22 - 1
1-196694308-A-C c.1754A>C p.D585A Missense 12/22 - 1
1-196694310-C-T c.1756C>T p.Q586* Nonsense 12/22 - 8
1-196694312-G-C c.1758G>C p.Q586H Missense 12/22 - 1
1-196694313-T-C c.1759T>C p.Y587H Missense 12/22 - 1
1-196694314-A-G c.1760A>G p.Y587C Missense 12/22 - 1
1-196694316-A-T c.1762A>T p.K588* Nonsense 12/22 - 3
1-196694319-G-T c.1765G>T p.V589F Missense 12/22 - 2
1-196694321-T-A c.1767T>A p.V589= Synonymous 12/22 - 1
1-196694326-A-T c.1772A>T p.E591V Missense 12/22 - 2
1-196694328-G-A c.1774G>A p.V592M Missense 12/22 - 1
1-196694328-G-C c.1774G>C p.V592L Missense 12/22 - 1
1-196694328-G-T c.1774G>T p.V592L Missense 12/22 - 1
1-196694332-T-A c.1778T>A p.L593* Nonsense 12/22 - 4
1-196694339-C-T c.1785C>T p.F595= Synonymous 12/22 - 5
1-196694340-TC-AT c.1786_1787delinsAT p.S596I Missense 12/22 - 1
1-196694338-TCTC-T c.1787_1789del p.S596del InFrameDeletion 12/22 - 1
1-196694341-C-A c.1787C>A p.S596Y Missense 12/22 - 2
1-196694341-C-G c.1787C>G p.S596C Missense 12/22 - 1
1-196694341-C-T c.1787C>T p.S596F Missense 12/22 - 8
1-196694343-T-C c.1789T>C p.C597R Missense 12/22 - 2
1-196694345-C-A c.1791C>A p.C597* Nonsense 12/22 - 1
1-196694345-C-T c.1791C>T p.C597= Synonymous 12/22 - 1
1-196694346-A-C c.1792A>C p.K598Q Missense 12/22 - 1
1-196694347-A-C c.1793A>C p.K598T Missense 12/22 - 1
1-196694348-A-G c.1794A>G p.K598= Synonymous 12/22 - 1
1-196694349-C-G c.1795C>G p.P599A Missense 12/22 - 1
1-196694351-A-C c.1797A>C p.P599= Synonymous 12/22 - 1
1-196694351-A-G c.1797A>G p.P599= Synonymous 12/22 - 1
1-196694351-A-T c.1797A>T p.P599= Synonymous 12/22 - 1
1-196694352-G-A c.1798G>A p.G600R Missense 12/22 - 5
1-196694353-G-A c.1799G>A p.G600E Missense 12/22 - 7
1-196694353-G-C c.1799G>C p.G600A Missense 12/22 - 1
1-196694358-ACA-TGT c.1804_1806inv p.T602C Missense 12/22 - 1
1-196694367-G-A c.1813G>A p.G605R Missense 12/22 - 2
1-196694367-G-C c.1813G>C p.G605R Missense 12/22 - 3
1-196694368-G-C c.1814G>C p.G605A Missense 12/22 - 1
1-196694370-C-T c.1816C>T p.P606S Missense 12/22 - 1
1-196694371-C-A c.1817C>A p.P606H Missense 12/22 - 1
1-196694373-A-G c.1819A>G p.N607D Missense 12/22 - 1
1-196694375-T-C c.1821T>C p.N607= Synonymous 12/22 - 1
1-196694377-C-A c.1823C>A p.S608Y Missense 12/22 - 8
1-196694378-C-T c.1824C>T p.S608= Synonymous 12/22 - 1
1-196694379-G-A c.1825G>A p.V609I Missense 12/22 - 11
1-196694379-G-T c.1825G>T p.V609F Missense 12/22 - 1
1-196694386-G-A c.1832G>A p.C611Y Missense 12/22 - 2
1-196694394-T-C c.1840T>C p.F614L Missense 12/22 - 1
1-196694396-T-A c.1842T>A p.F614L Missense 12/22 - 1
1-196694396-T-G c.1842T>G p.F614L Missense 12/22 - 1
1-196694395-T-C c.1841T>C p.F614S Missense 12/22 - 2
1-196694397-G-A c.1843G>A p.G615R Missense 12/22 - 7
1-196694397-G-C c.1843G>C p.G615R Missense 12/22 - 1
1-196694401-T-A c.1847T>A p.L616* Nonsense 12/22 - 1
1-196694406-C-A c.1852C>A p.P618T Missense 12/22 - 5
1-196694406-C-G c.1852C>G p.P618A Missense 12/22 - 1
1-196694406-C-T c.1852C>T p.P618S Missense 12/22 - 4
1-196694410-A-G c.1856A>G p.D619G Missense 12/22 - 2
1-196694414-C-T c.1860C>T p.L620= Synonymous 12/22 - 3
1-196694415-C-A c.1861C>A p.P621T Missense 12/22 - 2
1-196694415-CCA-TAT c.1861_1863delinsTAT p.P621Y Missense 12/22 - 1
1-196694418-A-C c.1864A>C p.I622L Missense 12/22 - 1
1-196694418-A-G c.1864A>G p.I622V Missense 12/22 - 2
1-196694418-A-T c.1864A>T p.I622L Missense 12/22 - 1
1-196694422-G-C c.1868G>C p.C623S Missense 12/22 - 1
1-196694427-G-A c.1873G>A p.E625K Missense 12/22 - 1
1-196694427-G-T c.1873G>T p.E625* Nonsense 12/22 - 6
1-196694428-G-A c.1873+1G>A - IntronicSNV - 12/21 1
1-196695161-C-T c.1874-439C>T - IntronicSNV - 12/21 13
1-196695602-C-T c.1876C>T p.Q626* Nonsense 13/22 - 1
1-196695603-A-G c.1877A>G p.Q626R Missense 13/22 - 1
1-196695605-AG-A c.1879del p.V627Yfs*38 Frameshift 13/22 - 1
1-196695605-G-C c.1879G>C p.V627L Missense 13/22 - 1
1-196695607-A-G c.1881A>G p.V627= Synonymous 13/22 - 1
1-196695609-A-G c.1883A>G p.Q628R Missense 13/22 - 1
1-196695611-AT-A c.1885del p.S629Hfs*36 Frameshift 13/22 - 1
1-196695612-C-T c.1886C>T p.S629L Missense 13/22 - 3
1-196695614-TG-GC c.1888_1889delinsGC p.C630A Missense 13/22 - 1
1-196695616-T-G c.1890T>G p.C630W Missense 13/22 - 3
1-196695618-G-C c.1892G>C p.G631A Missense 13/22 - 1
1-196695619-T-A c.1893T>A p.G631= Synonymous 13/22 - 1
1-196695619-T-C c.1893T>C p.G631= Synonymous 13/22 - 1
1-196695619-T-G c.1893T>G p.G631= Synonymous 13/22 - 1
1-196695620-C-T c.1894C>T p.P632S Missense 13/22 - 1
1-196695621-C-T c.1895C>T p.P632L Missense 13/22 - 6
1-196695626-C-T c.1900C>T p.P634S Missense 13/22 - 4
1-196695635-C-T c.1909C>T p.L637F Missense 13/22 - 1
1-196695636-T-A c.1910T>A p.L637H Missense 13/22 - 1
1-196695637-C-A c.1911C>A p.L637= Synonymous 13/22 - 1
1-196695637-C-T c.1911C>T p.L637= Synonymous 13/22 - 1
1-196695639-A-G c.1913A>G p.N638S Missense 13/22 - 1
1-196695642-G-T c.1916G>T p.G639V Missense 13/22 - 3
1-196695643-G-A c.1917G>A p.G639= Synonymous 13/22 - 3
1-196695643-G-C c.1917G>C p.G639= Synonymous 13/22 - 1
1-196695643-G-T c.1917G>T p.G639= Synonymous 13/22 - 1
1-196695646-T-A c.1920T>A p.N640K Missense 13/22 - 3
1-196695646-T-G c.1920T>G p.N640K Missense 13/22 - 3
1-196695647-G-C c.1921G>C p.V641L Missense 13/22 - 1
1-196695648-T-A c.1922T>A p.V641D Missense 13/22 - 1
1-196695648-T-C c.1922T>C p.V641A Missense 13/22 - 4
1-196695652-G-A c.1926G>A p.K642= Synonymous 13/22 - 3
1-196695652-G-GT c.1926_1927insT p.E643* Nonsense 13/22 - 1
1-196695653-G-A c.1927G>A p.E643K Missense 13/22 - 9
1-196695654-A-G c.1928A>G p.E643G Missense 13/22 - 1
1-196695653-GA-G c.1933del p.T645Rfs*20 Frameshift 13/22 - 1
1-196695653-G-GA c.1933dup p.T645Nfs*9 Frameshift 13/22 - 4
1-196695659-A-G c.1933A>G p.T645A Missense 13/22 - 1
1-196695660-AC-A c.1934del p.T645Rfs*20 Frameshift 13/22 - 1
1-196695660-C-G c.1934C>G p.T645R Missense 13/22 - 1
1-196695660-C-T c.1934C>T p.T645M Missense 13/22 - 1
1-196695661-G-A c.1935G>A p.T645= Synonymous 13/22 - 6
1-196695661-G-C c.1935G>C p.T645= Synonymous 13/22 - 2
1-196695661-G-T c.1935G>T p.T645= Synonymous 13/22 - 4
1-196695668-G-C c.1942G>C p.E648Q Missense 13/22 - 2
1-196695669-A-G c.1943A>G p.E648G Missense 13/22 - 1
1-196695675-G-A c.1949G>A p.G650E Missense 13/22 - 5
1-196695675-G-T c.1949G>T p.G650V Missense 13/22 - 9
1-196695677-C-T c.1951C>T p.H651Y Missense 13/22 - 2
1-196695683-G-A c.1957G>A p.E653K Missense 13/22 - 2
1-196695687-T-G c.1961T>G p.V654G Missense 13/22 - 1
1-196695688-G-A c.1962G>A p.V654= Synonymous 13/22 - 1
1-196695691-G-T c.1965G>T p.V655= Synonymous 13/22 - 1
1-196695692-G-A c.1966G>A p.E656K Missense 13/22 - 1
1-196695702-G-T c.1976G>T p.C659F Missense 13/22 - 4
1-196695705-A-G c.1979A>G p.N660S Missense 13/22 - 1
1-196695708-C-T c.1982C>T p.P661L Missense 13/22 - 3
1-196695710-A-G c.1984A>G p.R662G Missense 13/22 - 1
1-196695711-G-C c.1985G>C p.R662T Missense 13/22 - 1
1-196695711-G-T c.1985G>T p.R662I Missense 13/22 - 1
1-196695715-T-C c.1989T>C p.F663= Synonymous 13/22 - 2
1-196695720-T-C c.1994T>C p.M665T Missense 13/22 - 1
1-196695721-G-A c.1995G>A p.M665I Missense 13/22 - 6
1-196695721-G-C c.1995G>C p.M665I Missense 13/22 - 3
1-196695721-G-T c.1995G>T p.M665I Missense 13/22 - 3
1-196695721-G-GA c.1997dup p.P668Tfs*2 Frameshift 13/22 - 1
1-196695724-G-A c.1998G>A p.K666= Synonymous 13/22 - 2
1-196695724-G-C c.1998G>C p.K666N Missense 13/22 - 1
1-196695724-G-T c.1998G>T p.K666N Missense 13/22 - 2
1-196695725-G-C c.1999G>C p.G667R Missense 13/22 - 1
1-196695726-G-C c.2000G>C p.G667A Missense 13/22 - 1
1-196695728-C-T c.2002C>T p.P668S Missense 13/22 - 1
1-196695729-C-T c.2003C>T p.P668L Missense 13/22 - 1
1-196695734-A-G c.2008A>G p.K670E Missense 13/22 - 1
1-196695735-A-G c.2009A>G p.K670R Missense 13/22 - 1
1-196695736-A-C c.2010A>C p.K670N Missense 13/22 - 4
1-196695736-A-T c.2010A>T p.K670N Missense 13/22 - 4
1-196695740-C-A c.2014C>A p.Q672K Missense 13/22 - 3
1-196695740-C-T c.2014C>T p.Q672* Nonsense 13/22 - 7
1-196695742-A-G c.2016A>G p.Q672= Synonymous 13/22 - 89
1-196695743-T-A c.2017T>A p.C673S Missense 13/22 - 4
1-196695743-T-C c.2017T>C p.C673R Missense 13/22 - 1
1-196695744-G-C c.2018G>C p.C673S Missense 13/22 - 4
1-196695744-G-A c.2018G>A p.C673Y Missense 13/22 - 6
1-196695748-T-A c.2022T>A p.V674= Synonymous 13/22 - 1
1-196695748-T-C c.2022T>C p.V674= Synonymous 13/22 - 1
1-196695748-T-G c.2022T>G p.V674= Synonymous 13/22 - 1
1-196695755-G-A c.2029G>A p.E677K Missense 13/22 - 9
1-196695755-G-C c.2029G>C p.E677Q Missense 13/22 - 1
1-196695756-A-G c.2030A>G p.E677G Missense 13/22 - 1
1-196695760-G-C c.2034G>C p.W678C Missense 13/22 - 1
1-196695760-G-T c.2034G>T p.W678C Missense 13/22 - 3
1-196695761-A-C c.2035A>C p.T679P Missense 13/22 - 3
1-196695762-C-A c.2036C>A p.T679K Missense 13/22 - 1
1-196695766-T-C c.2040T>C p.T680= Synonymous 13/22 - 2
1-196695769-A-C c.2043A>C p.L681F Missense 13/22 - 1
1-196695769-A-T c.2043A>T p.L681F Missense 13/22 - 1
1-196695773-G-A c.2047G>A p.V683M Missense 13/22 - 1
1-196695773-G-T c.2047G>T p.V683L Missense 13/22 - 2
1-196695776-T-G c.2050T>G p.C684G Missense 13/22 - 1
1-196695776-TG-GC c.2050_2051delinsGC p.C684A Missense 13/22 - 1
1-196695782-G-A c.2056G>A p.V686M Missense 13/22 - 1
1-196695783-G-A c.2056+1G>A - IntronicSNV - 13/21 1
1-196695892-G-A c.2058G>A p.V686= Synonymous 14/22 - 1
1-196695893-G-A c.2059G>A p.E687K Missense 14/22 - 2
1-196695895-G-A c.2061G>A p.E687= Synonymous 14/22 - 2
1-196695896-G-A c.2062G>A p.E688K Missense 14/22 - 6
1-196695896-G-T c.2062G>T p.E688* Nonsense 14/22 - 1
1-196695900-G-A c.2066G>A p.S689N Missense 14/22 - 1
1-196695903-C-A c.2069C>A p.T690N Missense 14/22 - 1
1-196695903-CC-TT c.2069_2070delinsTT p.T690I Missense 14/22 - 1
1-196695903-C-T c.2069C>T p.T690I Missense 14/22 - 4
1-196695904-C-A c.2070C>A p.T690= Synonymous 14/22 - 2
1-196695904-C-T c.2070C>T p.T690= Synonymous 14/22 - 1
1-196695906-G-A c.2072G>A p.C691Y Missense 14/22 - 2
1-196695907-T-C c.2073T>C p.C691= Synonymous 14/22 - 1
1-196695909-G-C c.2075G>C p.G692A Missense 14/22 - 1
1-196695911-G-T c.2077G>T p.D693Y Missense 14/22 - 2
1-196695912-A-G c.2078A>G p.D693G Missense 14/22 - 1
1-196695916-A-G c.2082A>G p.I694M Missense 14/22 - 2
1-196695917-C-T c.2083C>T p.P695S Missense 14/22 - 2
1-196695918-C-A c.2084C>A p.P695H Missense 14/22 - 3
1-196695919-T-G c.2085T>G p.P695= Synonymous 14/22 - 1
1-196695920-G-A c.2086G>A p.E696K Missense 14/22 - 7
1-196695921-A-G c.2087A>G p.E696G Missense 14/22 - 1
1-196695922-A-C c.2088A>C p.E696D Missense 14/22 - 2
1-196695922-A-T c.2088A>T p.E696D Missense 14/22 - 1
1-196695923-C-T c.2089C>T p.L697F Missense 14/22 - 2
1-196695926-G-T c.2092G>T p.E698* Nonsense 14/22 - 2
1-196695927-A-C c.2093A>C p.E698A Missense 14/22 - 1
1-196695933-G-C c.2099G>C p.G700A Missense 14/22 - 1
1-196695936-G-T c.2102G>T p.W701L Missense 14/22 - 4
1-196695937-G-A c.2103G>A p.W701* Nonsense 14/22 - 5
1-196695938-G-A c.2104G>A p.A702T Missense 14/22 - 4
1-196695938-G-T c.2104G>T p.A702S Missense 14/22 - 1
1-196695940-C-A c.2106C>A p.A702= Synonymous 14/22 - 1
1-196695940-C-G c.2106C>G p.A702= Synonymous 14/22 - 1
1-196695940-C-T c.2106C>T p.A702= Synonymous 14/22 - 2
1-196695941-C-A c.2107C>A p.Q703K Missense 14/22 - 3
1-196695941-C-T c.2107C>T p.Q703* Nonsense 14/22 - 1
1-196695948-C-T c.2114C>T p.S705F Missense 14/22 - 11
1-196695951-C-T c.2117C>T p.S706F Missense 14/22 - 7
1-196695952-C-A c.2118C>A p.S706= Synonymous 14/22 - 8
1-196695952-C-G c.2118C>G p.S706= Synonymous 14/22 - 6
1-196695952-C-T c.2118C>T p.S706= Synonymous 14/22 - 9
1-196695953-C-T c.2119C>T p.P707S Missense 14/22 - 1
1-196695950-TC-T c.2120del p.P707Lfs*19 Frameshift 14/22 - 1
1-196695954-C-A c.2120C>A p.P707H Missense 14/22 - 1
1-196695954-C-T c.2120C>T p.P707L Missense 14/22 - 2
1-196695956-C-T c.2122C>T p.P708S Missense 14/22 - 4
1-196695957-C-T c.2123C>T p.P708L Missense 14/22 - 2
1-196695957-CTTA-C c.2127_2129del p.Y711del InFrameDeletion 14/22 - 1
1-196695962-T-C c.2128T>C p.Y710H Missense 14/22 - 1
1-196695963-A-G c.2129A>G p.Y710C Missense 14/22 - 1
1-196695966-A-G c.2132A>G p.Y711C Missense 14/22 - 1
1-196695968-G-A c.2134G>A p.G712R Missense 14/22 - 1
1-196695968-G-C c.2134G>C p.G712R Missense 14/22 - 2
1-196695969-G-A c.2135G>A p.G712E Missense 14/22 - 3
1-196695969-G-C c.2135G>C p.G712A Missense 14/22 - 1
1-196695971-G-A c.2137G>A p.D713N Missense 14/22 - 1
1-196695971-G-T c.2137G>T p.D713Y Missense 14/22 - 1
1-196695975-C-A c.2141C>A p.S714* Nonsense 14/22 - 2
1-196695975-C-G c.2141C>G p.S714* Nonsense 14/22 - 3
1-196695975-C-T c.2141C>T p.S714L Missense 14/22 - 2
1-196695979-G-A c.2145G>A p.V715= Synonymous 14/22 - 1
1-196695980-G-A c.2146G>A p.E716K Missense 14/22 - 7
1-196695983-T-A c.2149T>A p.F717I Missense 14/22 - 3
1-196695983-T-C c.2149T>C p.F717L Missense 14/22 - 1
1-196695985-C-A c.2151C>A p.F717L Missense 14/22 - 2
1-196695985-C-G c.2151C>G p.F717L Missense 14/22 - 1
1-196695985-C-T c.2151C>T p.F717= Synonymous 14/22 - 1
1-196695986-AAT-TAA c.2152_2154delinsTAA p.N718* Nonsense 14/22 - 1
1-196695987-A-G c.2153A>G p.N718S Missense 14/22 - 1
1-196695989-T-G c.2155T>G p.C719G Missense 14/22 - 1
1-196695990-G-A c.2156G>A p.C719Y Missense 14/22 - 1
1-196695992-T-A c.2158T>A p.S720T Missense 14/22 - 3
1-196695993-C-T c.2159C>T p.S720L Missense 14/22 - 1
1-196695995-G-A c.2161G>A p.E721K Missense 14/22 - 4
1-196695995-G-T c.2161G>T p.E721* Nonsense 14/22 - 2
1-196695998-T-A c.2164T>A p.S722T Missense 14/22 - 1
1-196695999-C-A c.2165C>A p.S722* Nonsense 14/22 - 1
1-196695999-C-T c.2165C>T p.S722L Missense 14/22 - 9
1-196696005-AC-A c.2171del p.T724Kfs*2 Frameshift 14/22 - 3
1-196696005-C-A c.2171C>A p.T724K Missense 14/22 - 3
1-196696007-AT-TA c.2173_2174delinsTA p.M725* Nonsense 14/22 - 1
1-196696009-G-A c.2175G>A p.M725I Missense 14/22 - 4
1-196696009-G-C c.2175G>C p.M725I Missense 14/22 - 1
1-196696009-G-T c.2175G>T p.M725I Missense 14/22 - 1
1-196696010-A-G c.2176A>G p.I726V Missense 14/22 - 1
1-196696013-G-A c.2179G>A p.G727R Missense 14/22 - 1
1-196696016-C-T c.2182C>T p.H728Y Missense 14/22 - 1
1-196696017-A-G c.2183A>G p.H728R Missense 14/22 - 1
1-196696019-A-G c.2185A>G p.R729G Missense 14/22 - 1
1-196696020-G-T c.2186G>T p.R729I Missense 14/22 - 1
1-196696023-C-A c.2189C>A p.S730* Nonsense 14/22 - 1
1-196696023-C-G c.2189C>G p.S730* Nonsense 14/22 - 1
1-196696023-C-T c.2189C>T p.S730L Missense 14/22 - 6
1-196696024-A-C c.2190A>C p.S730= Synonymous 14/22 - 1
1-196696024-A-G c.2190A>G p.S730= Synonymous 14/22 - 1
1-196696024-A-T c.2190A>T p.S730= Synonymous 14/22 - 1
1-196696027-T-G c.2193T>G p.I731M Missense 14/22 - 1
1-196696029-C-T c.2195C>T p.T732M Missense 14/22 - 7
1-196696030-G-A c.2196G>A p.T732= Synonymous 14/22 - 2
1-196696030-G-C c.2196G>C p.T732= Synonymous 14/22 - 2
1-196696030-G-T c.2196G>T p.T732= Synonymous 14/22 - 2
1-196696037-C-T c.2203C>T p.H735Y Missense 14/22 - 7
1-196696038-A-G c.2204A>G p.H735R Missense 14/22 - 1
1-196696040-G-A c.2206G>A p.G736R Missense 14/22 - 1
1-196696041-G-C c.2207G>C p.G736A Missense 14/22 - 7
1-196696041-G-T c.2207G>T p.G736V Missense 14/22 - 3
1-196696042-A-G c.2208A>G p.G736= Synonymous 14/22 - 1
1-196696043-G-A c.2209G>A p.V737I Missense 14/22 - 1
1-196696045-A-C c.2211A>C p.V737= Synonymous 14/22 - 1
1-196696048-G-A c.2214G>A p.W738* Nonsense 14/22 - 2
1-196696049-AC-GG c.2215_2216delinsGG p.T739G Missense 14/22 - 1
1-196696050-C-G c.2216C>G p.T739S Missense 14/22 - 1
1-196696050-C-T c.2216C>T p.T739I Missense 14/22 - 1
1-196696052-C-G c.2218C>G p.Q740E Missense 14/22 - 1
1-196696054-A-G c.2220A>G p.Q740= Synonymous 14/22 - 1
1-196696055-C-T c.2221C>T p.L741F Missense 14/22 - 3
1-196696055-CTT-ATG c.2221_2223delinsATG p.L741M Missense 14/22 - 1
1-196696058-C-T c.2224C>T p.P742S Missense 14/22 - 8
1-196696060-C-A c.2226C>A p.P742= Synonymous 14/22 - 1
1-196696060-C-G c.2226C>G p.P742= Synonymous 14/22 - 1
1-196696060-C-T c.2226C>T p.P742= Synonymous 14/22 - 1
1-196696066-T-C c.2232T>C p.C744= Synonymous 14/22 - 1
1-196696067-G-C c.2233G>C p.V745L Missense 14/22 - 1
1-196696067-G-T c.2233G>T p.V745L Missense 14/22 - 1
1-196696070-G-T c.2236G>T p.A746S Missense 14/22 - 1
1-196696078-T-A c.2236+8T>A - IntronicSNV - 14/21 1
1-196696737-T-C c.2236+667T>C - IntronicSNV - 14/21 4
1-196696744-T-C c.2236+674T>C - IntronicSNV - 14/21 1
1-196696857-A-G c.2237-619A>G - IntronicSNV - 14/21 1
1-196696875-G-T c.2237-601G>T - IntronicSNV - 14/21 6
1-196696933-G-A c.2237-543G>A - IntronicSNV - 14/21 118
1-196697288-C-T c.2237-188C>T - IntronicSNV - 14/21 1
1-196697476-C-G c.2237C>G p.A746G Missense 15/22 - 1
1-196697477-A-C c.2238A>C p.A746= Synonymous 15/22 - 1
1-196697477-A-G c.2238A>G p.A746= Synonymous 15/22 - 1
1-196697477-A-T c.2238A>T p.A746= Synonymous 15/22 - 1
1-196697479-T-TAAAC c.2241_2242insAACA p.D748Nfs*3 Frameshift 15/22 - 2
1-196697481-G-A c.2242G>A p.D748N Missense 15/22 - 1
1-196697482-A-T c.2243A>T p.D748V Missense 15/22 - 1
1-196697483-T-A c.2244T>A p.D748E Missense 15/22 - 1
1-196697482-ATAAACT-A c.2247_2252del p.L750_K751del InFrameDeletion 15/22 - 1
1-196697487-C-T c.2248C>T p.L750F Missense 15/22 - 1
1-196697487-CT-GA c.2248_2249delinsGA p.L750D Missense 15/22 - 1
1-196697487-CT-GC c.2248_2249delinsGC p.L750A Missense 15/22 - 1
1-196697489-TAAG-T c.2254_2256del p.K752del InFrameDeletion 15/22 - 1
1-196697494-A-G c.2255A>G p.K752R Missense 15/22 - 1
1-196697496-T-A c.2257T>A p.C753S Missense 15/22 - 1
1-196697496-TG-GC c.2257_2258delinsGC p.C753A Missense 15/22 - 2
1-196697497-G-C c.2258G>C p.C753S Missense 15/22 - 1
1-196697497-G-T c.2258G>T p.C753F Missense 15/22 - 1
1-196697498-C-A c.2259C>A p.C753* Nonsense 15/22 - 1
1-196697502-T-C c.2263T>C p.S755P Missense 15/22 - 2
1-196697502-T-G c.2263T>G p.S755A Missense 15/22 - 2
1-196697503-C-T c.2264C>T p.S755L Missense 15/22 - 6
1-196697505-T-A c.2266T>A p.S756T Missense 15/22 - 2
1-196697506-C-A c.2267C>A p.S756* Nonsense 15/22 - 1
1-196697506-C-G c.2267C>G p.S756* Nonsense 15/22 - 1
1-196697507-A-G c.2268A>G p.S756= Synonymous 15/22 - 1
1-196697512-T-C c.2273T>C p.L758S Missense 15/22 - 3
1-196697519-A-G c.2280A>G p.I760M Missense 15/22 - 1
1-196697521-T-C c.2282T>C p.L761P Missense 15/22 - 2
1-196697521-T-G c.2282T>G p.L761R Missense 15/22 - 2
1-196697523-G-A c.2284G>A p.E762K Missense 15/22 - 1
1-196697523-G-T c.2284G>T p.E762* Nonsense 15/22 - 1
1-196697525-G-C c.2286G>C p.E762D Missense 15/22 - 1
1-196697528-A-G c.2289A>G p.E763= Synonymous 15/22 - 1
1-196697529-C-A c.2290C>A p.H764N Missense 15/22 - 1
1-196697529-C-T c.2290C>T p.H764Y Missense 15/22 - 1
1-196697533-T-A c.2294T>A p.L765* Nonsense 15/22 - 1
1-196697533-T-G c.2294T>G p.L765* Nonsense 15/22 - 1
1-196697534-A-C c.2295A>C p.L765F Missense 15/22 - 2
1-196697534-A-T c.2295A>T p.L765F Missense 15/22 - 2
1-196697533-TA-T c.2300del p.N767Tfs*11 Frameshift 15/22 - 1
1-196697539-A-C c.2300A>C p.N767T Missense 15/22 - 1
1-196697538-AAC-A c.2301_2302del p.N767Kfs*7 Frameshift 15/22 - 1
1-196697541-A-T c.2302A>T p.K768* Nonsense 15/22 - 1
1-196697544-A-G c.2305A>G p.K769E Missense 15/22 - 2
1-196697547-G-A c.2308G>A p.E770K Missense 15/22 - 1
1-196697550-T-A c.2311T>A p.F771I Missense 15/22 - 1
1-196697550-T-C c.2311T>C p.F771L Missense 15/22 - 4
1-196697552-C-G c.2313C>G p.F771L Missense 15/22 - 3
1-196697552-C-A c.2313C>A p.F771L Missense 15/22 - 4
1-196697552-C-T c.2313C>T p.F771= Synonymous 15/22 - 7
1-196697553-G-A c.2314G>A p.D772N Missense 15/22 - 5
1-196697553-G-T c.2314G>T p.D772Y Missense 15/22 - 1
1-196697561-T-A c.2322T>A p.N774K Missense 15/22 - 2
1-196697561-T-C c.2322T>C p.N774= Synonymous 15/22 - 1
1-196697561-T-G c.2322T>G p.N774K Missense 15/22 - 1
1-196697563-C-T c.2324C>T p.S775F Missense 15/22 - 2
1-196697566-A-G c.2327A>G p.N776S Missense 15/22 - 1
1-196697567-C-A c.2328C>A p.N776K Missense 15/22 - 1
1-196697567-C-G c.2328C>G p.N776K Missense 15/22 - 1
1-196697568-A-C c.2329A>C p.I777L Missense 15/22 - 1
1-196697568-A-G c.2329A>G p.I777V Missense 15/22 - 4
1-196697568-A-T c.2329A>T p.I777L Missense 15/22 - 1
1-196697571-AG-TA c.2332_2333delinsTA p.R778* Nonsense 15/22 - 1
1-196697571-A-T c.2332A>T p.R778W Missense 15/22 - 1
1-196697572-G-C c.2333G>C p.R778T Missense 15/22 - 1
1-196697572-G-T c.2333G>T p.R778M Missense 15/22 - 1
1-196697571-A-C c.2332A>C p.R778= Synonymous 15/22 - 1
1-196697573-G-A c.2334G>A p.R778= Synonymous 15/22 - 1
1-196697573-G-C c.2334G>C p.R778S Missense 15/22 - 1
1-196697573-G-T c.2334G>T p.R778S Missense 15/22 - 1
1-196697574-TA-GC c.2335_2336delinsGC p.Y779A Missense 15/22 - 1
1-196697575-A-G c.2336A>G p.Y779C Missense 15/22 - 2
1-196697583-A-G c.2344A>G p.R782G Missense 15/22 - 1
1-196697586-G-T c.2347G>T p.G783* Nonsense 15/22 - 1
1-196697587-G-A c.2348G>A p.G783E Missense 15/22 - 4
1-196697588-A-T c.2349A>T p.G783= Synonymous 15/22 - 1
1-196697590-A-G c.2351A>G p.K784R Missense 15/22 - 1
1-196697592-G-A c.2353G>A p.E785K Missense 15/22 - 6
1-196697592-G-T c.2353G>T p.E785* Nonsense 15/22 - 1
1-196697595-G-A c.2356G>A p.G786R Missense 15/22 - 1
1-196697595-G-C c.2356G>C p.G786R Missense 15/22 - 1
1-196697596-G-T c.2357G>T p.G786V Missense 15/22 - 2
1-196697599-G-A c.2360G>A p.W787* Nonsense 15/22 - 2
1-196697600-G-A c.2361G>A p.W787* Nonsense 15/22 - 5
1-196697609-A-C c.2370A>C p.T790= Synonymous 15/22 - 2
1-196697609-A-G c.2370A>G p.T790= Synonymous 15/22 - 2
1-196697609-A-T c.2370A>T p.T790= Synonymous 15/22 - 2
1-196697617-T-A c.2378T>A p.I793K Missense 15/22 - 1
1-196697620-A-T c.2381A>T p.N794I Missense 15/22 - 1
1-196697622-G-A c.2383G>A p.G795R Missense 15/22 - 5
1-196697623-G-C c.2384G>C p.G795A Missense 15/22 - 2
1-196697630-G-A c.2391G>A p.W797* Nonsense 15/22 - 2
1-196697631-G-A c.2392G>A p.D798N Missense 15/22 - 5
1-196697632-A-G c.2393A>G p.D798G Missense 15/22 - 1
1-196697633-T-A c.2394T>A p.D798E Missense 15/22 - 2
1-196697634-C-A c.2395C>A p.P799T Missense 15/22 - 1
1-196697636-CA-C c.2397del p.E800Kfs*2 Frameshift 15/22 - 1
1-196697642-G-A c.2403G>A p.V801= Synonymous 15/22 - 1
1-196697643-GAAC-G c.2404_2406del p.N802del InFrameDeletion 15/22 - 1
1-196697650-C-A c.2411C>A p.S804* Nonsense 15/22 - 3
1-196697650-C-G c.2411C>G p.S804* Nonsense 15/22 - 2
1-196697863-GCACA-G c.2413+234_2413+237del - IntronicDeletion - 15/21 1
1-196697912-C-T c.2413+260C>T - IntronicSNV - 15/21 1
1-196698272-A-G c.2413+620A>G - IntronicSNV - 15/21 5
1-196698272-A-T c.2413+620A>T - IntronicSNV - 15/21 5
1-196698463-A-G c.2413+811A>G - IntronicSNV - 15/21 2
1-196698651-A-T c.2413+999A>T - IntronicSNV - 15/21 1
1-196698945-G-A c.2413+1293G>A - IntronicSNV - 15/21 21
1-196698945-G-T c.2413+1293G>T - IntronicSNV - 15/21 21
1-196699044-T-G c.2413+1392T>G - IntronicSNV - 15/21 2
1-196700322-G-C c.2413+2670G>C - IntronicSNV - 15/21 1
1-196700322-G-T c.2413+2670G>T - IntronicSNV - 15/21 1
1-196700914-G-A c.2413+3262G>A - IntronicSNV - 15/21 3
1-196700914-G-T c.2413+3262G>T - IntronicSNV - 15/21 3
1-196701051-G-A c.2413+3399G>A - IntronicSNV - 15/21 66
1-196701051-G-C c.2413+3399G>C - IntronicSNV - 15/21 66
1-196701051-G-T c.2413+3399G>T - IntronicSNV - 15/21 66
1-196701284-C-T c.2413+3632C>T - IntronicSNV - 15/21 3
1-196701473-A-T c.2413+3821A>T - IntronicSNV - 15/21 1
1-196702525-C-A c.2414-3429C>A - IntronicSNV - 15/21 17
1-196702525-C-T c.2414-3429C>T - IntronicSNV - 15/21 17
1-196702810-C-T c.2414-3144C>T - IntronicSNV - 15/21 83
1-196703707-G-A c.2414-2247G>A - IntronicSNV - 15/21 17
1-196703707-G-C c.2414-2247G>C - IntronicSNV - 15/21 17
1-196703707-G-T c.2414-2247G>T - IntronicSNV - 15/21 17
1-196704039-G-A c.2414-1915G>A - IntronicSNV - 15/21 1
1-196704039-G-T c.2414-1915G>T - IntronicSNV - 15/21 1
1-196704204-G-A c.2414-1750G>A - IntronicSNV - 15/21 1
1-196704443-A-G c.2414-1511A>G - IntronicSNV - 15/21 1
1-196704559-C-T c.2414-1395C>T - IntronicSNV - 15/21 1
1-196704632-C-A c.2414-1322C>A - IntronicSNV - 15/21 46
1-196704997-G-A c.2414-957G>A - IntronicSNV - 15/21 6
1-196705015-C-A c.2414-939C>A - IntronicSNV - 15/21 1
1-196705520-T-C c.2414-434T>C - IntronicSNV - 15/21 5
1-196705926-C-A c.2414-28C>A - IntronicSNV - 15/21 9
1-196705956-G-A c.2416G>A p.A806T Missense 16/22 - 1
1-196705956-GCA-TGT c.2416_2418delinsTGT p.A806C Missense 16/22 - 1
1-196705961-A-G c.2421A>G p.Q807= Synonymous 16/22 - 2
1-196705965-C-G c.2425C>G p.Q809E Missense 16/22 - 1
1-196705968-TT-CA c.2428_2429delinsCA p.L810Q Missense 16/22 - 1
1-196705973-C-T c.2433C>T p.C811= Synonymous 16/22 - 1
1-196705977-C-T c.2437C>T p.P813S Missense 16/22 - 2
1-196705978-C-T c.2438C>T p.P813L Missense 16/22 - 1
1-196705980-C-T c.2440C>T p.P814S Missense 16/22 - 1
1-196705981-C-T c.2441C>T p.P814L Missense 16/22 - 1
1-196705983-C-A c.2443C>A p.P815T Missense 16/22 - 2
1-196705988-G-A c.2448G>A p.Q816= Synonymous 16/22 - 3
1-196705989-A-T c.2449A>T p.I817F Missense 16/22 - 1
1-196705992-C-T c.2452C>T p.P818S Missense 16/22 - 3
1-196705993-C-A c.2453C>A p.P818H Missense 16/22 - 1
1-196705994-C-T c.2454C>T p.P818= Synonymous 16/22 - 3
1-196705996-A-G c.2456A>G p.N819S Missense 16/22 - 1
1-196705997-T-C c.2457T>C p.N819= Synonymous 16/22 - 1
1-196705998-T-C c.2458T>C p.S820P Missense 16/22 - 1
1-196705999-C-A c.2459C>A p.S820Y Missense 16/22 - 1
1-196705999-C-T c.2459C>T p.S820F Missense 16/22 - 1
1-196706000-T-C c.2460T>C p.S820= Synonymous 16/22 - 1
1-196706001-C-T c.2461C>T p.H821Y Missense 16/22 - 3
1-196706002-A-G c.2462A>G p.H821R Missense 16/22 - 2
1-196706003-C-A c.2463C>A p.H821Q Missense 16/22 - 1
1-196706003-C-G c.2463C>G p.H821Q Missense 16/22 - 1
1-196706003-C-T c.2463C>T p.H821= Synonymous 16/22 - 1
1-196706010-ACA-TGT c.2470_2472inv p.T824C Missense 16/22 - 1
1-196706013-A-T c.2473A>T p.T825S Missense 16/22 - 1
1-196706016-CA-C c.2476del p.T826Hfs*2 Frameshift 16/22 - 1
1-196706019-ACTG-A c.2479_2481del p.L827del InFrameDeletion 16/22 - 1
1-196706019-C-G c.2479C>G p.L827V Missense 16/22 - 1
1-196706021-G-A c.2481G>A p.L827= Synonymous 16/22 - 1
1-196706022-A-G c.2482A>G p.N828D Missense 16/22 - 2
1-196706022-GAATTA-G c.2482_2486del p.N828Sfs*37 Frameshift 16/22 - 1
1-196706023-A-T c.2483A>T p.N828I Missense 16/22 - 1
1-196706024-T-C c.2484T>C p.N828= Synonymous 16/22 - 1
1-196706028-C-A c.2488C>A p.R830= Synonymous 16/22 - 1
1-196706028-CGG-TGT c.2488_2490delinsTGT p.R830C Missense 16/22 - 1
1-196706028-C-T c.2488C>T p.R830W Missense 16/22 - 9
1-196706030-G-C c.2490G>C p.R830= Synonymous 16/22 - 1
1-196706030-G-T c.2490G>T p.R830= Synonymous 16/22 - 1
1-196706029-G-A c.2489G>A p.R830Q Missense 16/22 - 1
1-196706030-G-A c.2490G>A p.R830= Synonymous 16/22 - 3
1-196706031-G-A c.2491G>A p.D831N Missense 16/22 - 1
1-196706032-A-T c.2492A>T p.D831V Missense 16/22 - 1
1-196706033-T-A c.2493T>A p.D831E Missense 16/22 - 1
1-196706033-T-G c.2493T>G p.D831E Missense 16/22 - 1
1-196706034-G-A c.2494G>A p.G832R Missense 16/22 - 7
1-196706034-G-C c.2494G>C p.G832R Missense 16/22 - 2
1-196706036-A-C c.2496A>C p.G832= Synonymous 16/22 - 1
1-196706036-A-G c.2496A>G p.G832= Synonymous 16/22 - 1
1-196706036-A-T c.2496A>T p.G832= Synonymous 16/22 - 1
1-196706037-G-A c.2497G>A p.E833K Missense 16/22 - 6
1-196706037-G-T c.2497G>T p.E833* Nonsense 16/22 - 1
1-196706040-A-C c.2500A>C p.K834Q Missense 16/22 - 1
1-196706040-A-T c.2500A>T p.K834* Nonsense 16/22 - 2
1-196706042-A-G c.2502A>G p.K834= Synonymous 16/22 - 2
1-196706043-G-T c.2503G>T p.V835L Missense 16/22 - 1
1-196706046-T-A c.2506T>A p.S836T Missense 16/22 - 1
1-196706047-C-A c.2507C>A p.S836Y Missense 16/22 - 2
1-196706047-C-T c.2507C>T p.S836F Missense 16/22 - 1
1-196706049-G-A c.2509G>A p.V837I Missense 16/22 - 11
1-196706052-C-A c.2512C>A p.L838I Missense 16/22 - 1
1-196706052-C-T c.2512C>T p.L838F Missense 16/22 - 1
1-196706055-TG-AC c.2515_2516delinsAC p.C839T Missense 16/22 - 2
1-196706057-C-A c.2517C>A p.C839* Nonsense 16/22 - 1
1-196706057-C-T c.2517C>T p.C839= Synonymous 16/22 - 1
1-196706058-C-T c.2518C>T p.Q840* Nonsense 16/22 - 1
1-196706059-A-C c.2519A>C p.Q840P Missense 16/22 - 1
1-196706058-C-CA c.2520dup p.E841Rfs*26 Frameshift 16/22 - 2
1-196706060-A-C c.2520A>C p.Q840H Missense 16/22 - 1
1-196706060-A-T c.2520A>T p.Q840H Missense 16/22 - 1
1-196706061-G-T c.2521G>T p.E841* Nonsense 16/22 - 1
1-196706066-T-C c.2526T>C p.N842= Synonymous 16/22 - 1
1-196706066-T-G c.2526T>G p.N842K Missense 16/22 - 1
1-196706067-T-C c.2527T>C p.Y843H Missense 16/22 - 1
1-196706070-C-T c.2530C>T p.L844= Synonymous 16/22 - 1
1-196706077-A-G c.2537A>G p.Q846R Missense 16/22 - 2
1-196706079-G-A c.2539G>A p.E847K Missense 16/22 - 3
1-196706080-A-T c.2540A>T p.E847V Missense 16/22 - 6
1-196706082-G-A c.2542G>A p.G848R Missense 16/22 - 1
1-196706082-G-C c.2542G>C p.G848R Missense 16/22 - 1
1-196706082-G-T c.2542G>T p.G848* Nonsense 16/22 - 1
1-196706083-G-A c.2543G>A p.G848E Missense 16/22 - 1
1-196706083-G-T c.2543G>T p.G848V Missense 16/22 - 1
1-196706087-A-G c.2547A>G p.E849= Synonymous 16/22 - 1
1-196706088-G-A c.2548G>A p.E850K Missense 16/22 - 3
1-196706091-A-G c.2551A>G p.I851V Missense 16/22 - 1
1-196706093-T-G c.2553T>G p.I851M Missense 16/22 - 2
1-196706097-T-C c.2557T>C p.C853R Missense 16/22 - 6
1-196706097-T-G c.2557T>G p.C853G Missense 16/22 - 1
1-196706098-G-A c.2558G>A p.C853Y Missense 16/22 - 2
1-196706103-G-C c.2563G>C p.D855H Missense 16/22 - 1
1-196706106-G-A c.2566G>A p.G856R Missense 16/22 - 2
1-196706106-G-C c.2566G>C p.G856R Missense 16/22 - 2
1-196706109-A-T c.2569A>T p.R857* Nonsense 16/22 - 1
1-196706110-G-A c.2570G>A p.R857K Missense 16/22 - 1
1-196706112-T-A c.2572T>A p.W858R Missense 16/22 - 7
1-196706112-T-C c.2572T>C p.W858R Missense 16/22 - 2
1-196706113-G-A c.2573G>A p.W858* Nonsense 16/22 - 1
1-196706113-G-T c.2573G>T p.W858L Missense 16/22 - 2
1-196706114-G-A c.2574G>A p.W858* Nonsense 16/22 - 1
1-196706115-C-T c.2575C>T p.Q859* Nonsense 16/22 - 1
1-196706122-TACC-T c.2585_2587del p.P862del InFrameDeletion 16/22 - 1
1-196706128-T-A c.2588T>A p.L863H Missense 16/22 - 1
1-196706130-T-A c.2590T>A p.C864S Missense 16/22 - 2
1-196706131-G-C c.2591G>C p.C864S Missense 16/22 - 2
1-196706133-G-T c.2593G>T p.V865F Missense 16/22 - 1
1-196706135-T-A c.2595T>A p.V865= Synonymous 16/22 - 1
1-196706135-T-C c.2595T>C p.V865= Synonymous 16/22 - 1
1-196706135-T-G c.2595T>G p.V865= Synonymous 16/22 - 1
1-196706144-G-T c.2596+8G>T - IntronicSNV - 16/21 1
1-196706166-T-A c.2596+30T>A - IntronicSNV - 16/21 1
1-196706200-C-T c.2596+64C>T - IntronicSNV - 16/21 1
1-196706201-G-A c.2596+65G>A - IntronicSNV - 16/21 1
1-196706609-A-C c.2601A>C p.K867N Missense 17/22 - 1
1-196706609-A-T c.2601A>T p.K867N Missense 17/22 - 1
1-196706604-G-GA c.2602dup p.I868Nfs*15 Frameshift 17/22 - 1
1-196706613-C-T c.2605C>T p.P869S Missense 17/22 - 10
1-196706614-C-T c.2606C>T p.P869L Missense 17/22 - 5
1-196706617-G-A c.2609G>A p.C870Y Missense 17/22 - 1
1-196706620-CA-AT c.2612_2613delinsAT p.S871Y Missense 17/22 - 1
1-196706620-C-T c.2612C>T p.S871L Missense 17/22 - 1
1-196706627-A-C c.2619A>C p.P873= Synonymous 17/22 - 1
1-196706627-A-G c.2619A>G p.P873= Synonymous 17/22 - 1
1-196706627-A-T c.2619A>T p.P873= Synonymous 17/22 - 1
1-196706629-C-A c.2621C>A p.P874H Missense 17/22 - 1
1-196706629-C-T c.2621C>T p.P874L Missense 17/22 - 2
1-196706631-C-T c.2623C>T p.Q875* Nonsense 17/22 - 3
1-196706633-G-C c.2625G>C p.Q875H Missense 17/22 - 3
1-196706633-G-T c.2625G>T p.Q875H Missense 17/22 - 2
1-196706637-G-A c.2629G>A p.E877K Missense 17/22 - 4
1-196706640-C-T c.2632C>T p.H878Y Missense 17/22 - 1
1-196706642-C-T c.2634C>T p.H878= Synonymous 17/22 - 23
1-196706643-G-A c.2635G>A p.G879R Missense 17/22 - 2
1-196706643-G-C c.2635G>C p.G879R Missense 17/22 - 1
1-196706644-G-A c.2636G>A p.G879E Missense 17/22 - 7
1-196706645-A-C c.2637A>C p.G879= Synonymous 17/22 - 1
1-196706645-A-G c.2637A>G p.G879= Synonymous 17/22 - 3
1-196706645-A-T c.2637A>T p.G879= Synonymous 17/22 - 1
1-196706647-C-T c.2639C>T p.T880I Missense 17/22 - 2
1-196706649-A-G c.2641A>G p.I881V Missense 17/22 - 1
1-196706652-AAT-TAA c.2644_2646delinsTAA p.N882* Nonsense 17/22 - 1
1-196706656-C-T c.2648C>T p.S883L Missense 17/22 - 6
1-196706658-T-C c.2650T>C p.S884P Missense 17/22 - 4
1-196706659-C-A c.2651C>A p.S884Y Missense 17/22 - 5
1-196706659-C-T c.2651C>T p.S884F Missense 17/22 - 1
1-196706661-AGG-CAT c.2653_2655delinsCAT p.R885H Missense 17/22 - 11
1-196706661-AGG-TGT c.2653_2655delinsTGT p.R885C Missense 17/22 - 2
1-196706662-G-A c.2654G>A p.R885K Missense 17/22 - 3
1-196706662-G-T c.2654G>T p.R885M Missense 17/22 - 2
1-196706661-AG-A c.2655del p.R885Sfs*13 Frameshift 17/22 - 2
1-196706663-G-T c.2655G>T p.R885S Missense 17/22 - 1
1-196706668-CA-TT c.2660_2661delinsTT p.S887F Missense 17/22 - 1
1-196706670-C-A c.2662C>A p.Q888K Missense 17/22 - 1
1-196706670-C-T c.2662C>T p.Q888* Nonsense 17/22 - 1
1-196706674-A-C c.2666A>C p.E889A Missense 17/22 - 1
1-196706676-A-C c.2668A>C p.S890R Missense 17/22 - 2
1-196706677-G-A c.2669G>A p.S890N Missense 17/22 - 5
1-196706677-G-C c.2669G>C p.S890T Missense 17/22 - 5
1-196706677-G-T c.2669G>T p.S890I Missense 17/22 - 26
1-196706678-T-A c.2670T>A p.S890R Missense 17/22 - 1
1-196706678-T-C c.2670T>C p.S890= Synonymous 17/22 - 1
1-196706678-T-G c.2670T>G p.S890R Missense 17/22 - 1
1-196706682-G-T c.2674G>T p.A892S Missense 17/22 - 1
1-196706683-C-T c.2675C>T p.A892V Missense 17/22 - 4
1-196706686-A-G c.2678A>G p.H893R Missense 17/22 - 4
1-196706688-GG-AC c.2680_2681delinsAC p.G894T Missense 17/22 - 3
1-196706689-G-A c.2681G>A p.G894E Missense 17/22 - 6
1-196706690-G-C c.2682G>C p.G894= Synonymous 17/22 - 1
1-196706691-A-G c.2683A>G p.T895A Missense 17/22 - 2
1-196706692-C-T c.2684C>T p.T895I Missense 17/22 - 5
1-196706690-GACTAAATTGAGTTAT-G c.2686_2700del p.K896_T900del InFrameDeletion 17/22 - 1
1-196706700-A-G c.2692A>G p.S898G Missense 17/22 - 1
1-196706703-T-C c.2695T>C p.Y899H Missense 17/22 - 2
1-196706703-T-G c.2695T>G p.Y899D Missense 17/22 - 2
1-196706705-T-A c.2697T>A p.Y899* Nonsense 17/22 - 7
1-196706705-T-G c.2697T>G p.Y899* Nonsense 17/22 - 4
1-196706707-C-A c.2699C>A p.T900N Missense 17/22 - 1
1-196706707-CT-TG c.2699_2700delinsTG p.T900M Missense 17/22 - 1
1-196706712-G-A c.2704G>A p.E902K Missense 17/22 - 1
1-196706714-G-C c.2706G>C p.E902D Missense 17/22 - 1
1-196706714-G-T c.2706G>T p.E902D Missense 17/22 - 2
1-196706715-G-A c.2707G>A p.G903S Missense 17/22 - 3
1-196706718-G-A c.2710G>A p.G904S Missense 17/22 - 2
1-196706718-G-C c.2710G>C p.G904R Missense 17/22 - 1
1-196706723-C-T c.2715C>T p.F905= Synonymous 17/22 - 2
1-196706724-AGG-TGT c.2716_2718delinsTGT p.R906C Missense 17/22 - 1
1-196706725-G-A c.2717G>A p.R906K Missense 17/22 - 3
1-196706724-A-C c.2716A>C p.R906= Synonymous 17/22 - 1
1-196706726-G-A c.2718G>A p.R906= Synonymous 17/22 - 2
1-196706733-G-A c.2725G>A p.E909K Missense 17/22 - 2
1-196706734-A-G c.2726A>G p.E909G Missense 17/22 - 1
1-196706735-A-C c.2727A>C p.E909D Missense 17/22 - 2
1-196706736-G-T c.2728G>T p.E910* Nonsense 17/22 - 2
1-196706738-A-C c.2730A>C p.E910D Missense 17/22 - 3
1-196706738-A-T c.2730A>T p.E910D Missense 17/22 - 2
1-196706740-A-G c.2732A>G p.N911S Missense 17/22 - 1
1-196706742-G-A c.2734G>A p.E912K Missense 17/22 - 6
1-196706751-T-A c.2743T>A p.C915S Missense 17/22 - 3
1-196706752-G-C c.2744G>C p.C915S Missense 17/22 - 3
1-196706753-C-A c.2745C>A p.C915* Nonsense 17/22 - 2
1-196706755-A-G c.2747A>G p.Y916C Missense 17/22 - 3
1-196706756-C-A c.2748C>A p.Y916* Nonsense 17/22 - 1
1-196706756-C-G c.2748C>G p.Y916* Nonsense 17/22 - 3
1-196706756-C-T c.2748C>T p.Y916= Synonymous 17/22 - 1
1-196706758-T-C c.2750T>C p.M917T Missense 17/22 - 1
1-196706759-G-A c.2751G>A p.M917I Missense 17/22 - 1
1-196706759-G-C c.2751G>C p.M917I Missense 17/22 - 1
1-196706759-G-T c.2751G>T p.M917I Missense 17/22 - 1
1-196706761-G-A c.2753G>A p.G918E Missense 17/22 - 6
1-196706766-T-C c.2758T>C p.W920R Missense 17/22 - 1
1-196706769-A-T c.2761A>T p.S921C Missense 17/22 - 1
1-196706773-C-A c.2765C>A p.S922Y Missense 17/22 - 1
1-196706776-C-T c.2768C>T p.P923L Missense 17/22 - 3
1-196706778-C-T c.2770C>T p.P924S Missense 17/22 - 1
1-196706779-C-T c.2771C>T p.P924L Missense 17/22 - 3
1-196706781-C-A c.2773C>A p.Q925K Missense 17/22 - 3
1-196706783-G-T c.2775G>T p.Q925H Missense 17/22 - 1
1-196706784-T-C c.2776T>C p.C926R Missense 17/22 - 2
1-196706784-TG-AC c.2776_2777delinsAC p.C926T Missense 17/22 - 1
1-196706785-G-T c.2777G>T p.C926F Missense 17/22 - 2
1-196706787-G-A c.2779G>A p.E927K Missense 17/22 - 2
1-196706789-A-C c.2781A>C p.E927D Missense 17/22 - 1
1-196706790-G-T c.2782G>T p.G928C Missense 17/22 - 1
1-196706792-T-C c.2782+2T>C - IntronicSNV - 17/21 1
1-196708455-A-G c.2783-1294A>G - IntronicSNV - 17/21 2
1-196708455-A-T c.2783-1294A>T - IntronicSNV - 17/21 2
1-196708891-G-T c.2783-858G>T - IntronicSNV - 17/21 3
1-196709223-A-T c.2783-526A>T - IntronicSNV - 17/21 3
1-196709749-G-T c.2783G>T p.G928V Missense 18/22 - 1
1-196709750-C-A c.2784C>A p.G928= Synonymous 18/22 - 1
1-196709750-C-G c.2784C>G p.G928= Synonymous 18/22 - 1
1-196709750-C-T c.2784C>T p.G928= Synonymous 18/22 - 1
1-196709754-C-T c.2788C>T p.P930S Missense 18/22 - 3
1-196709755-C-T c.2789C>T p.P930L Missense 18/22 - 2
1-196709758-G-A c.2792G>A p.C931Y Missense 18/22 - 5
1-196709759-T-C c.2793T>C p.C931= Synonymous 18/22 - 1
1-196709761-A-C c.2795A>C p.K932T Missense 18/22 - 1
1-196709762-A-C c.2796A>C p.K932N Missense 18/22 - 1
1-196709762-A-T c.2796A>T p.K932N Missense 18/22 - 1
1-196709764-C-A c.2798C>A p.S933Y Missense 18/22 - 1
1-196709764-C-T c.2798C>T p.S933F Missense 18/22 - 6
1-196709765-T-A c.2799T>A p.S933= Synonymous 18/22 - 1
1-196709766-C-T c.2800C>T p.P934S Missense 18/22 - 4
1-196709767-C-T c.2801C>T p.P934L Missense 18/22 - 2
1-196709770-C-T c.2804C>T p.P935L Missense 18/22 - 1
1-196709772-G-A c.2806G>A p.E936K Missense 18/22 - 5
1-196709774-G-C c.2808G>C p.E936D Missense 18/22 - 13
1-196709774-G-T c.2808G>T p.E936D Missense 18/22 - 160
1-196709775-A-G c.2809A>G p.I937V Missense 18/22 - 1
1-196709778-T-A c.2812T>A p.S938T Missense 18/22 - 2
1-196709778-T-C c.2812T>C p.S938P Missense 18/22 - 1
1-196709779-C-A c.2813C>A p.S938Y Missense 18/22 - 1
1-196709779-C-T c.2813C>T p.S938F Missense 18/22 - 7
1-196709780-T-A c.2814T>A p.S938= Synonymous 18/22 - 2
1-196709780-T-C c.2814T>C p.S938= Synonymous 18/22 - 1
1-196709780-T-G c.2814T>G p.S938= Synonymous 18/22 - 1
1-196709781-C-T c.2815C>T p.H939Y Missense 18/22 - 1
1-196709784-G-A c.2818G>A p.G940S Missense 18/22 - 1
1-196709785-G-A c.2819G>A p.G940D Missense 18/22 - 1
1-196709785-G-T c.2819G>T p.G940V Missense 18/22 - 2
1-196709787-G-T c.2821G>T p.V941F Missense 18/22 - 1
1-196709790-G-A c.2824G>A p.V942I Missense 18/22 - 1
1-196709789-TGTA-T c.2825_2827del p.V942del InFrameDeletion 18/22 - 1
1-196709791-TAGCTC-T c.2827_2831del p.A943Hfs*17 Frameshift 18/22 - 2
1-196709793-G-T c.2827G>T p.A943S Missense 18/22 - 1
1-196709794-C-G c.2828C>G p.A943G Missense 18/22 - 1
1-196709794-C-T c.2828C>T p.A943V Missense 18/22 - 2
1-196709797-A-C c.2831A>C p.H944P Missense 18/22 - 1
1-196709798-C-A c.2832C>A p.H944Q Missense 18/22 - 1
1-196709801-G-A c.2835G>A p.M945I Missense 18/22 - 6
1-196709801-G-C c.2835G>C p.M945I Missense 18/22 - 5
1-196709801-G-T c.2835G>T p.M945I Missense 18/22 - 6
1-196709802-T-C c.2836T>C p.S946P Missense 18/22 - 2
1-196709803-CA-TT c.2837_2838delinsTT p.S946F Missense 18/22 - 1
1-196709803-C-T c.2837C>T p.S946L Missense 18/22 - 1
1-196709805-G-A c.2839G>A p.D947N Missense 18/22 - 1
1-196709805-G-C c.2839G>C p.D947H Missense 18/22 - 1
1-196709806-A-G c.2840A>G p.D947G Missense 18/22 - 1
1-196709811-T-C c.2845T>C p.Y949H Missense 18/22 - 1
1-196709814-C-A c.2848C>A p.Q950K Missense 18/22 - 1
1-196709814-C-T c.2848C>T p.Q950* Nonsense 18/22 - 1
1-196709815-A-C c.2849A>C p.Q950P Missense 18/22 - 1
1-196709816-G-A c.2850G>A p.Q950= Synonymous 18/22 - 6
1-196709816-G-C c.2850G>C p.Q950H Missense 18/22 - 15
1-196709816-G-T c.2850G>T p.Q950H Missense 18/22 - 58
1-196709817-T-C c.2851T>C p.Y951H Missense 18/22 - 3
1-196709820-G-A c.2854G>A p.G952R Missense 18/22 - 1
1-196709820-G-C c.2854G>C p.G952R Missense 18/22 - 1
1-196709820-GGA-TGT c.2854_2856delinsTGT p.G952C Missense 18/22 - 1
1-196709821-G-A c.2855G>A p.G952E Missense 18/22 - 2
1-196709823-G-A c.2857G>A p.E953K Missense 18/22 - 2
1-196709826-G-A c.2860G>A p.E954K Missense 18/22 - 1
1-196709827-A-G c.2861A>G p.E954G Missense 18/22 - 1
1-196709827-GAA-G c.2861_2862del p.E954Gfs*7 Frameshift 18/22 - 1
1-196709830-T-C c.2864T>C p.V955A Missense 18/22 - 1
1-196709831-T-A c.2865T>A p.V955= Synonymous 18/22 - 1
1-196709831-T-C c.2865T>C p.V955= Synonymous 18/22 - 1
1-196709831-T-G c.2865T>G p.V955= Synonymous 18/22 - 1
1-196709833-AC-A c.2867del p.T956Sfs*19 Frameshift 18/22 - 1
1-196709833-C-T c.2867C>T p.T956M Missense 18/22 - 34
1-196709834-G-A c.2868G>A p.T956= Synonymous 18/22 - 2
1-196709834-G-C c.2868G>C p.T956= Synonymous 18/22 - 1
1-196709834-G-T c.2868G>T p.T956= Synonymous 18/22 - 1
1-196709835-GT-G c.2869del p.Y957Tfs*18 Frameshift 18/22 - 1
1-196709837-C-T c.2871C>T p.Y957= Synonymous 18/22 - 1
1-196709839-A-C c.2873A>C p.K958T Missense 18/22 - 1
1-196709840-A-C c.2874A>C p.K958N Missense 18/22 - 1
1-196709840-A-G c.2874A>G p.K958= Synonymous 18/22 - 1
1-196709840-A-T c.2874A>T p.K958N Missense 18/22 - 1
1-196709841-T-A c.2875T>A p.C959S Missense 18/22 - 1
1-196709842-G-A c.2876G>A p.C959Y Missense 18/22 - 8
1-196709842-G-C c.2876G>C p.C959S Missense 18/22 - 2
1-196709844-T-C c.2878T>C p.F960L Missense 18/22 - 1
1-196709842-GTT-G c.2879_2880del p.F960* Frameshift 18/22 - 1
1-196709845-T-A c.2879T>A p.F960Y Missense 18/22 - 1
1-196709845-T-C c.2879T>C p.F960S Missense 18/22 - 5
1-196709845-T-G c.2879T>G p.F960C Missense 18/22 - 2
1-196709842-G-GT c.2880dup p.E961* Nonsense 18/22 - 1
1-196709842-GT-G c.2880del p.F960Lfs*15 Frameshift 18/22 - 1
1-196709847-G-A c.2881G>A p.E961K Missense 18/22 - 1
1-196709847-G-T c.2881G>T p.E961* Nonsense 18/22 - 1
1-196709850-G-C c.2884G>C p.G962R Missense 18/22 - 1
1-196709852-T-A c.2886T>A p.G962= Synonymous 18/22 - 1
1-196709852-T-C c.2886T>C p.G962= Synonymous 18/22 - 1
1-196709852-T-G c.2886T>G p.G962= Synonymous 18/22 - 1
1-196709856-GGA-TGT c.2890_2892delinsTGT p.G964C Missense 18/22 - 1
1-196709856-G-T c.2890G>T p.G964* Nonsense 18/22 - 1
1-196709857-G-A c.2891G>A p.G964E Missense 18/22 - 3
1-196709857-G-C c.2891G>C p.G964A Missense 18/22 - 2
1-196709862-G-A c.2896G>A p.D966N Missense 18/22 - 7
1-196709862-G-C c.2896G>C p.D966H Missense 18/22 - 1
1-196709865-G-A c.2899G>A p.G967R Missense 18/22 - 2
1-196709865-G-C c.2899G>C p.G967R Missense 18/22 - 1
1-196709865-G-T c.2899G>T p.G967W Missense 18/22 - 3
1-196709866-G-C c.2900G>C p.G967A Missense 18/22 - 1
1-196709869-C-A c.2903C>A p.P968H Missense 18/22 - 1
1-196709871-G-T c.2905G>T p.A969S Missense 18/22 - 1
1-196709872-C-T c.2906C>T p.A969V Missense 18/22 - 1
1-196709874-A-G c.2908A>G p.I970V Missense 18/22 - 3
1-196709875-T-C c.2909T>C p.I970T Missense 18/22 - 2
1-196709877-G-A c.2911G>A p.A971T Missense 18/22 - 2
1-196709877-G-C c.2911G>C p.A971P Missense 18/22 - 1
1-196709880-A-G c.2914A>G p.K972E Missense 18/22 - 1
1-196709883-T-A c.2917T>A p.C973S Missense 18/22 - 1
1-196709884-G-C c.2918G>C p.C973S Missense 18/22 - 1
1-196709884-G-A c.2918G>A p.C973Y Missense 18/22 - 5
1-196709884-G-T c.2918G>T p.C973F Missense 18/22 - 2
1-196709889-G-A c.2923G>A p.G975R Missense 18/22 - 1
1-196709890-G-A c.2924G>A p.G975E Missense 18/22 - 5
1-196709892-G-A c.2926G>A p.E976K Missense 18/22 - 4
1-196709894-A-G c.2928A>G p.E976= Synonymous 18/22 - 2
1-196709892-G-GA c.2931dup p.W978Mfs*17 Frameshift 18/22 - 1
1-196709897-A-G c.2931A>G p.K977= Synonymous 18/22 - 1
1-196709898-T-C c.2932T>C p.W978R Missense 18/22 - 1
1-196709898-T-G c.2932T>G p.W978G Missense 18/22 - 1
1-196709899-G-T c.2933G>T p.W978L Missense 18/22 - 1
1-196709900-G-C c.2934G>C p.W978C Missense 18/22 - 3
1-196709900-G-T c.2934G>T p.W978C Missense 18/22 - 3
1-196709902-C-G c.2936C>G p.S979C Missense 18/22 - 1
1-196709902-C-T c.2936C>T p.S979F Missense 18/22 - 1
1-196709904-C-T c.2938C>T p.H980Y Missense 18/22 - 3
1-196709906-C-T c.2940C>T p.H980= Synonymous 18/22 - 1
1-196709907-C-T c.2941C>T p.P981S Missense 18/22 - 4
1-196709910-C-T c.2944C>T p.P982S Missense 18/22 - 2
1-196709916-T-C c.2950T>C p.C984R Missense 18/22 - 1
1-196709916-T-G c.2950T>G p.C984G Missense 18/22 - 3
1-196709918-C-T c.2952C>T p.C984= Synonymous 18/22 - 1
1-196709922-A-G c.2956A>G p.K986E Missense 18/22 - 1
1-196710157-C-T c.2956+235C>T - IntronicSNV - 18/21 14
1-196710916-T-C c.2957-89T>C - IntronicSNV - 18/21 6
1-196711006-A-G c.2958A>G p.K986= Synonymous 19/22 - 2
1-196711010-G-A c.2962G>A p.D988N Missense 19/22 - 1
1-196711010-G-T c.2962G>T p.D988Y Missense 19/22 - 1
1-196711012-T-C c.2964T>C p.D988= Synonymous 19/22 - 1
1-196711012-T-G c.2964T>G p.D988E Missense 19/22 - 1
1-196711013-T-G c.2965T>G p.C989G Missense 19/22 - 4
1-196711024-A-C c.2976A>C p.L992F Missense 19/22 - 1
1-196711024-A-T c.2976A>T p.L992F Missense 19/22 - 1
1-196711025-C-T c.2977C>T p.P993S Missense 19/22 - 1
1-196711028-AG-CT c.2980_2981inv p.S994L Missense 19/22 - 1
1-196711029-G-T c.2981G>T p.S994I Missense 19/22 - 4
1-196711033-T-A c.2985T>A p.F995L Missense 19/22 - 1
1-196711034-G-C c.2986G>C p.E996Q Missense 19/22 - 1
1-196711038-A-C c.2990A>C p.N997T Missense 19/22 - 2
1-196711039-T-C c.2991T>C p.N997= Synonymous 19/22 - 1
1-196711041-C-T c.2993C>T p.A998V Missense 19/22 - 5
1-196711046-C-T c.2998C>T p.P1000S Missense 19/22 - 4
1-196711052-G-A c.3004G>A p.G1002R Missense 19/22 - 2
1-196711052-G-C c.3004G>C p.G1002R Missense 19/22 - 4
1-196711053-G-A c.3005G>A p.G1002E Missense 19/22 - 1
1-196711055-G-A c.3007G>A p.E1003K Missense 19/22 - 2
1-196711055-G-T c.3007G>T p.E1003* Nonsense 19/22 - 2
1-196711060-G-A c.3012G>A p.K1004= Synonymous 19/22 - 3
1-196711060-G-C c.3012G>C p.K1004N Missense 19/22 - 1
1-196711060-G-T c.3012G>T p.K1004N Missense 19/22 - 2
1-196711055-GAGA-G c.3013_3015del p.K1005del InFrameDeletion 19/22 - 1
1-196711067-G-A c.3019G>A p.V1007M Missense 19/22 - 4
1-196711067-G-C c.3019G>C p.V1007L Missense 19/22 - 12
1-196711067-G-T c.3019G>T p.V1007L Missense 19/22 - 17
1-196711067-GTG-ATC c.3019_3021delinsATC p.V1007I Missense 19/22 - 3
1-196711072-T-A c.3024T>A p.Y1008* Nonsense 19/22 - 1
1-196711072-T-G c.3024T>G p.Y1008* Nonsense 19/22 - 1
1-196711076-G-A c.3028G>A p.A1010T Missense 19/22 - 2
1-196711077-C-T c.3029C>T p.A1010V Missense 19/22 - 5
1-196711078-G-A c.3030G>A p.A1010= Synonymous 19/22 - 2
1-196711079-G-A c.3031G>A p.G1011S Missense 19/22 - 6
1-196711079-GG-AC c.3031_3032delinsAC p.G1011T Missense 19/22 - 1
1-196711079-GG-TT c.3031_3032delinsTT p.G1011F Missense 19/22 - 1
1-196711080-G-T c.3032G>T p.G1011V Missense 19/22 - 1
1-196711082-G-A c.3034G>A p.E1012K Missense 19/22 - 1
1-196711083-A-T c.3035A>T p.E1012V Missense 19/22 - 1
1-196711083-A-AG c.3036dup p.Q1013Afs*17 Frameshift 19/22 - 1
1-196711084-G-T c.3036G>T p.E1012D Missense 19/22 - 1
1-196711088-G-A c.3040G>A p.V1014M Missense 19/22 - 1
1-196711094-T-G c.3046T>G p.Y1016D Missense 19/22 - 2
1-196711095-A-G c.3047A>G p.Y1016C Missense 19/22 - 1
1-196711096-C-A c.3048C>A p.Y1016* Nonsense 19/22 - 2
1-196711096-C-G c.3048C>G p.Y1016* Nonsense 19/22 - 1
1-196711098-C-T c.3050C>T p.T1017I Missense 19/22 - 11
1-196711102-T-A c.3054T>A p.C1018* Nonsense 19/22 - 1
1-196711104-C-T c.3056C>T p.A1019V Missense 19/22 - 2
1-196711108-A-T c.3060A>T p.T1020= Synonymous 19/22 - 1
1-196711109-T-C c.3061T>C p.Y1021H Missense 19/22 - 2
1-196711110-A-T c.3062A>T p.Y1021F Missense 19/22 - 5
1-196711113-A-G c.3065A>G p.Y1022C Missense 19/22 - 9
1-196711114-C-A c.3066C>A p.Y1022* Nonsense 19/22 - 1
1-196711114-C-G c.3066C>G p.Y1022* Nonsense 19/22 - 1
1-196711120-G-A c.3072G>A p.M1024I Missense 19/22 - 2
1-196711120-G-C c.3072G>C p.M1024I Missense 19/22 - 2
1-196711120-G-T c.3072G>T p.M1024I Missense 19/22 - 2
1-196711119-TG-T c.3073del p.D1025Mfs*6 Frameshift 19/22 - 1
1-196711125-G-A c.3077G>A p.G1026E Missense 19/22 - 2
1-196711127-G-C c.3079G>C p.A1027P Missense 19/22 - 4
1-196711133-AAT-TAA c.3085_3087delinsTAA p.N1029* Nonsense 19/22 - 1
1-196711136-G-A c.3088G>A p.V1030I Missense 19/22 - 1
1-196711137-T-C c.3089T>C p.V1030A Missense 19/22 - 1
1-196711139-A-T c.3091A>T p.T1031S Missense 19/22 - 1
1-196711140-C-A c.3092C>A p.T1031K Missense 19/22 - 1
1-196711140-CA-TG c.3092_3093inv p.T1031M Missense 19/22 - 1
1-196711142-T-A c.3094T>A p.C1032S Missense 19/22 - 1
1-196711142-TG-GC c.3094_3095delinsGC p.C1032A Missense 19/22 - 1
1-196711143-G-C c.3095G>C p.C1032S Missense 19/22 - 1
1-196711144-C-A c.3096C>A p.C1032* Nonsense 19/22 - 3
1-196711146-T-A c.3098T>A p.I1033N Missense 19/22 - 1
1-196711151-A-G c.3103A>G p.S1035G Missense 19/22 - 1
1-196711152-G-A c.3104G>A p.S1035N Missense 19/22 - 2
1-196711152-G-T c.3104G>T p.S1035I Missense 19/22 - 1
1-196711153-C-G c.3105C>G p.S1035R Missense 19/22 - 1
1-196711155-G-A c.3107G>A p.R1036K Missense 19/22 - 1
1-196711158-G-A c.3110G>A p.W1037* Nonsense 19/22 - 4
1-196711159-G-A c.3111G>A p.W1037* Nonsense 19/22 - 1
1-196711160-A-G c.3112A>G p.T1038A Missense 19/22 - 1
1-196711161-C-G c.3113C>G p.T1038R Missense 19/22 - 1
1-196711162-A-C c.3114A>C p.T1038= Synonymous 19/22 - 1
1-196711162-A-G c.3114A>G p.T1038= Synonymous 19/22 - 1
1-196711162-A-T c.3114A>T p.T1038= Synonymous 19/22 - 1
1-196711163-GGA-TGT c.3115_3117delinsTGT p.G1039C Missense 19/22 - 1
1-196711166-A-G c.3118A>G p.R1040G Missense 19/22 - 1
1-196711166-AG-CA c.3118_3119delinsCA p.R1040Q Missense 19/22 - 1
1-196711168-G-A c.3120G>A p.R1040= Synonymous 19/22 - 1
1-196711169-C-T c.3121C>T p.P1041S Missense 19/22 - 1
1-196711171-A-C c.3123A>C p.P1041= Synonymous 19/22 - 1
1-196711175-T-C c.3127T>C p.C1043R Missense 19/22 - 4
1-196711176-G-A c.3128G>A p.C1043Y Missense 19/22 - 1
1-196711177-C-A c.3129C>A p.C1043* Nonsense 19/22 - 1
1-196711178-A-G c.3130A>G p.R1044G Missense 19/22 - 1
1-196711179-G-A c.3131G>A p.R1044K Missense 19/22 - 1
1-196711179-G-C c.3131G>C p.R1044T Missense 19/22 - 2
1-196711179-G-T c.3131G>T p.R1044I Missense 19/22 - 2
1-196711181-G-A c.3133G>A p.D1045N Missense 19/22 - 1
1-196711181-G-T c.3133G>T p.D1045Y Missense 19/22 - 1
1-196711182-G-A c.3133+1G>A - IntronicSNV - 19/21 2
1-196711185-C-G c.3133+4C>G - IntronicSNV - 19/21 3
1-196711240-TGG-T c.3133+59_3133+60del - IntronicDeletion - 19/21 1
1-196711302-C-A c.3133+121C>A - IntronicSNV - 19/21 1
1-196711302-C-T c.3133+121C>T - IntronicSNV - 19/21 1
1-196711350-CA-C c.3133+176del - IntronicDeletion - 19/21 1
1-196711380-T-A c.3133+199T>A - IntronicSNV - 19/21 1
1-196711501-G-A c.3133+320G>A - IntronicSNV - 19/21 1
1-196712522-C-T c.3134-60C>T - IntronicSNV - 19/21 3
1-196712577-T-A c.3134-5T>A - IntronicSNV - 19/21 16
1-196712577-T-C c.3134-5T>C - IntronicSNV - 19/21 16
1-196712582-A-C c.3134A>C p.D1045A Missense 20/22 - 1
1-196712585-C-A c.3137C>A p.T1046N Missense 20/22 - 1
1-196712585-C-T c.3137C>T p.T1046I Missense 20/22 - 1
1-196712586-C-A c.3138C>A p.T1046= Synonymous 20/22 - 3
1-196712586-C-G c.3138C>G p.T1046= Synonymous 20/22 - 3
1-196712586-C-T c.3138C>T p.T1046= Synonymous 20/22 - 21
1-196712587-T-G c.3139T>G p.S1047A Missense 20/22 - 2
1-196712590-T-A c.3142T>A p.C1048S Missense 20/22 - 1
1-196712591-G-A c.3143G>A p.C1048Y Missense 20/22 - 1
1-196712591-G-C c.3143G>C p.C1048S Missense 20/22 - 2
1-196712595-G-A c.3147G>A p.V1049= Synonymous 20/22 - 1
1-196712596-A-T c.3148A>T p.N1050Y Missense 20/22 - 38
1-196712598-T-C c.3150T>C p.N1050= Synonymous 20/22 - 1
1-196712600-C-T c.3152C>T p.P1051L Missense 20/22 - 5
1-196712601-G-A c.3153G>A p.P1051= Synonymous 20/22 - 2
1-196712601-G-C c.3153G>C p.P1051= Synonymous 20/22 - 1
1-196712601-G-T c.3153G>T p.P1051= Synonymous 20/22 - 1
1-196712606-CA-TG c.3158_3159inv p.T1053M Missense 20/22 - 1
1-196712608-G-A c.3160G>A p.V1054I Missense 20/22 - 5
1-196712611-C-T c.3163C>T p.Q1055* Nonsense 20/22 - 1
1-196712616-T-C c.3168T>C p.N1056= Synonymous 20/22 - 1
1-196712617-G-C c.3169G>C p.A1057P Missense 20/22 - 1
1-196712618-C-G c.3170C>G p.A1057G Missense 20/22 - 1
1-196712620-T-C c.3172T>C p.Y1058H Missense 20/22 - 15
1-196712623-A-G c.3175A>G p.I1059V Missense 20/22 - 1
1-196712624-T-C c.3176T>C p.I1059T Missense 20/22 - 9
1-196712626-G-C c.3178G>C p.V1060L Missense 20/22 - 13
1-196712626-G-T c.3178G>T p.V1060L Missense 20/22 - 2
1-196712627-T-C c.3179T>C p.V1060A Missense 20/22 - 8
1-196712628-G-A c.3180G>A p.V1060= Synonymous 20/22 - 1
1-196712628-G-C c.3180G>C p.V1060= Synonymous 20/22 - 1
1-196712628-G-T c.3180G>T p.V1060= Synonymous 20/22 - 2
1-196712629-T-C c.3181T>C p.S1061P Missense 20/22 - 1
1-196712633-G-A c.3185G>A p.R1062K Missense 20/22 - 2
1-196712640-G-A c.3192G>A p.M1064I Missense 20/22 - 5
1-196712640-G-C c.3192G>C p.M1064I Missense 20/22 - 3
1-196712640-G-T c.3192G>T p.M1064I Missense 20/22 - 3
1-196712641-A-T c.3193A>T p.S1065C Missense 20/22 - 2
1-196712645-A-T c.3197A>T p.K1066I Missense 20/22 - 1
1-196712650-C-T c.3202C>T p.P1068S Missense 20/22 - 3
1-196712651-C-T c.3203C>T p.P1068L Missense 20/22 - 2
1-196712655-T-C c.3207T>C p.S1069= Synonymous 20/22 - 2
1-196712656-G-A c.3208G>A p.G1070S Missense 20/22 - 3
1-196712657-G-C c.3209G>C p.G1070A Missense 20/22 - 1
1-196712658-GT-G c.3210del p.E1071Rfs*19 Frameshift 20/22 - 1
1-196712659-G-A c.3211G>A p.E1071K Missense 20/22 - 1
1-196712659-G-T c.3211G>T p.E1071* Nonsense 20/22 - 1
1-196712661-G-C c.3213G>C p.E1071D Missense 20/22 - 1
1-196712661-G-GT c.3213_3214insT p.R1072* Nonsense 20/22 - 1
1-196712658-TGA-T c.3216_3217del p.R1072Sfs*6 Frameshift 20/22 - 1
1-196712662-A-C c.3214A>C p.R1072= Synonymous 20/22 - 1
1-196712664-A-G c.3216A>G p.R1072= Synonymous 20/22 - 1
1-196712667-A-G c.3219A>G p.V1073= Synonymous 20/22 - 1
1-196712668-C-T c.3220C>T p.R1074C Missense 20/22 - 1
1-196712669-G-A c.3221G>A p.R1074H Missense 20/22 - 1
1-196712669-G-C c.3221G>C p.R1074P Missense 20/22 - 2
1-196712674-C-G c.3226C>G p.Q1076E Missense 20/22 - 18
1-196712677-TG-AC c.3229_3230delinsAC p.C1077T Missense 20/22 - 1
1-196712677-TG-GC c.3229_3230delinsGC p.C1077A Missense 20/22 - 1
1-196712679-T-G c.3231T>G p.C1077W Missense 20/22 - 5
1-196712681-G-T c.3233G>T p.R1078M Missense 20/22 - 3
1-196712682-G-A c.3234G>A p.R1078= Synonymous 20/22 - 1
1-196712682-G-C c.3234G>C p.R1078S Missense 20/22 - 8
1-196712682-G-T c.3234G>T p.R1078S Missense 20/22 - 13
1-196712686-C-T c.3238C>T p.P1080S Missense 20/22 - 2
1-196712687-C-T c.3239C>T p.P1080L Missense 20/22 - 2
1-196712692-G-A c.3244G>A p.E1082K Missense 20/22 - 4
1-196712697-G-A c.3249G>A p.M1083I Missense 20/22 - 2
1-196712697-G-C c.3249G>C p.M1083I Missense 20/22 - 1
1-196712697-G-T c.3249G>T p.M1083I Missense 20/22 - 2
1-196712698-T-C c.3250T>C p.F1084L Missense 20/22 - 1
1-196712700-T-A c.3252T>A p.F1084L Missense 20/22 - 1
1-196712700-T-G c.3252T>G p.F1084L Missense 20/22 - 1
1-196712701-G-T c.3253G>T p.G1085W Missense 20/22 - 1
1-196712703-G-T c.3255G>T p.G1085= Synonymous 20/22 - 1
1-196712705-A-G c.3257A>G p.D1086G Missense 20/22 - 1
1-196712708-A-G c.3260A>G p.E1087G Missense 20/22 - 1
1-196712709-A-AT c.3261_3262insT p.E1088* Nonsense 20/22 - 1
1-196712710-G-T c.3262G>T p.E1088* Nonsense 20/22 - 1
1-196712711-A-G c.3263A>G p.E1088G Missense 20/22 - 3
1-196712712-A-C c.3264A>C p.E1088D Missense 20/22 - 3
1-196712712-A-T c.3264A>T p.E1088D Missense 20/22 - 1
1-196712713-AGTG-A c.3265_3267del p.V1089del InFrameDeletion 20/22 - 1
1-196712717-AT-A c.3269del p.M1090Sfs*3 Frameshift 20/22 - 1
1-196712718-G-A c.3270G>A p.M1090I Missense 20/22 - 1
1-196712718-G-C c.3270G>C p.M1090I Missense 20/22 - 1
1-196712718-G-T c.3270G>T p.M1090I Missense 20/22 - 1
1-196712728-G-A c.3280G>A p.G1094R Missense 20/22 - 2
1-196712728-G-C c.3280G>C p.G1094R Missense 20/22 - 2
1-196712728-G-T c.3280G>T p.G1094* Nonsense 20/22 - 1
1-196712729-G-A c.3281G>A p.G1094E Missense 20/22 - 2
1-196712731-AAC-TGG c.3283_3285delinsTGG p.N1095W Missense 20/22 - 1
1-196712734-T-A c.3286T>A p.W1096R Missense 20/22 - 2
1-196712734-T-C c.3286T>C p.W1096R Missense 20/22 - 1
1-196712735-G-A c.3287G>A p.W1096* Nonsense 20/22 - 1
1-196712736-G-A c.3288G>A p.W1096* Nonsense 20/22 - 1
1-196712736-G-C c.3288G>C p.W1096C Missense 20/22 - 2
1-196712736-G-T c.3288G>T p.W1096C Missense 20/22 - 3
1-196712738-C-T c.3290C>T p.T1097M Missense 20/22 - 2
1-196712739-G-A c.3291G>A p.T1097= Synonymous 20/22 - 1
1-196712739-G-C c.3291G>C p.T1097= Synonymous 20/22 - 1
1-196712739-G-T c.3291G>T p.T1097= Synonymous 20/22 - 1
1-196712740-G-A c.3292G>A p.E1098K Missense 20/22 - 7
1-196712742-A-G c.3294A>G p.E1098= Synonymous 20/22 - 2
1-196712747-C-T c.3299C>T p.P1100L Missense 20/22 - 1
1-196712749-C-G c.3301C>G p.Q1101E Missense 20/22 - 1
1-196712749-C-T c.3301C>T p.Q1101* Nonsense 20/22 - 1
1-196712758-G-GATTCTACAGGAAAAT c.3310_3310+1insATTCTACAGGAAAAT p.K1108_C1109insYSTGK SpliceDonorInsertion - - 1
1-196712760-T-C c.3310+2T>C - IntronicSNV - 20/21 1
1-196712902-C-T c.3310+144C>T - IntronicSNV - 20/21 2
1-196714600-C-A c.3311-347C>A - IntronicSNV - 20/21 1
1-196714656-T-C c.3311-291T>C - IntronicSNV - 20/21 1
1-196714758-C-A c.3311-189C>A - IntronicSNV - 20/21 1
1-196714758-C-T c.3311-189C>T - IntronicSNV - 20/21 1
1-196714950-C-A c.3314C>A p.S1105Y Missense 21/22 - 1
1-196714952-ACA-TGT c.3316_3318inv p.T1106C Missense 21/22 - 1
1-196714955-G-A c.3319G>A p.G1107R Missense 21/22 - 4
1-196714955-G-C c.3319G>C p.G1107R Missense 21/22 - 1
1-196714956-G-A c.3320G>A p.G1107E Missense 21/22 - 11
1-196714960-A-T c.3324A>T p.K1108N Missense 21/22 - 1
1-196714961-T-A c.3325T>A p.C1109S Missense 21/22 - 1
1-196714962-G-C c.3326G>C p.C1109S Missense 21/22 - 1
1-196714962-G-A c.3326G>A p.C1109Y Missense 21/22 - 1
1-196714963-T-C c.3327T>C p.C1109= Synonymous 21/22 - 1
1-196714964-GGG-AGC c.3328_3330delinsAGC p.G1110S Missense 21/22 - 1
1-196714965-G-C c.3329G>C p.G1110A Missense 21/22 - 1
1-196714965-G-T c.3329G>T p.G1110V Missense 21/22 - 1
1-196714967-C-T c.3331C>T p.P1111S Missense 21/22 - 1
1-196714966-GC-G c.3335del p.P1112Lfs*39 Frameshift 21/22 - 1
1-196714977-C-T c.3341C>T p.P1114L Missense 21/22 - 4
1-196714981-T-A c.3345T>A p.I1115= Synonymous 21/22 - 1
1-196714984-C-T c.3348C>T p.D1116= Synonymous 21/22 - 1
1-196714986-A-G c.3350A>G p.N1117S Missense 21/22 - 6
1-196714988-GGG-TGT c.3352_3354delinsTGT p.G1118C Missense 21/22 - 1
1-196714988-G-T c.3352G>T p.G1118W Missense 21/22 - 1
1-196714989-G-A c.3353G>A p.G1118E Missense 21/22 - 1
1-196714989-G-T c.3353G>T p.G1118V Missense 21/22 - 1
1-196714990-G-A c.3354G>A p.G1118= Synonymous 21/22 - 4
1-196714987-TG-T c.3355del p.D1119Tfs*32 Frameshift 21/22 - 2
1-196714991-G-A c.3355G>A p.D1119N Missense 21/22 - 7
1-196714992-A-G c.3356A>G p.D1119G Missense 21/22 - 17
1-196714993-C-G c.3357C>G p.D1119E Missense 21/22 - 1
1-196714997-A-G c.3361A>G p.T1121A Missense 21/22 - 1
1-196715001-C-T c.3365C>T p.S1122L Missense 21/22 - 2
1-196715005-C-T c.3369C>T p.F1123= Synonymous 21/22 - 5
1-196715007-C-G c.3371C>G p.P1124R Missense 21/22 - 3
1-196715007-C-T c.3371C>T p.P1124L Missense 21/22 - 1
1-196715008-G-A c.3372G>A p.P1124= Synonymous 21/22 - 4
1-196715008-G-C c.3372G>C p.P1124= Synonymous 21/22 - 2
1-196715008-G-T c.3372G>T p.P1124= Synonymous 21/22 - 2
1-196715010-T-C c.3374T>C p.L1125S Missense 21/22 - 1
1-196715013-C-T c.3377C>T p.S1126L Missense 21/22 - 3
1-196715021-G-A c.3385G>A p.A1129T Missense 21/22 - 1
1-196715024-C-T c.3388C>T p.P1130S Missense 21/22 - 1
1-196715025-C-T c.3389C>T p.P1130L Missense 21/22 - 1
1-196715027-G-T c.3391G>T p.A1131S Missense 21/22 - 1
1-196715031-C-T c.3395C>T p.S1132L Missense 21/22 - 7
1-196715034-C-A c.3398C>A p.S1133* Nonsense 21/22 - 1
1-196715034-C-G c.3398C>G p.S1133* Nonsense 21/22 - 1
1-196715037-T-G c.3401T>G p.V1134G Missense 21/22 - 4
1-196715039-G-A c.3403G>A p.E1135K Missense 21/22 - 4
1-196715041-G-C c.3405G>C p.E1135D Missense 21/22 - 1
1-196715044-C-G c.3408C>G p.Y1136* Nonsense 21/22 - 1
1-196715045-C-T c.3409C>T p.Q1137* Nonsense 21/22 - 1
1-196715046-A-G c.3410A>G p.Q1137R Missense 21/22 - 1
1-196715046-A-T c.3410A>T p.Q1137L Missense 21/22 - 1
1-196715047-A-G c.3411A>G p.Q1137= Synonymous 21/22 - 1
1-196715050-C-T c.3414C>T p.C1138= Synonymous 21/22 - 1
1-196715051-C-A c.3415C>A p.Q1139K Missense 21/22 - 3
1-196715051-CA-GC c.3415_3416delinsGC p.Q1139A Missense 21/22 - 3
1-196715051-C-T c.3415C>T p.Q1139* Nonsense 21/22 - 5
1-196715053-G-A c.3417G>A p.Q1139= Synonymous 21/22 - 1
1-196715053-G-C c.3417G>C p.Q1139H Missense 21/22 - 1
1-196715053-G-T c.3417G>T p.Q1139H Missense 21/22 - 1
1-196715056-C-T c.3420C>T p.N1140= Synonymous 21/22 - 2
1-196715060-T-G c.3424T>G p.Y1142D Missense 21/22 - 3
1-196715061-A-G c.3425A>G p.Y1142C Missense 21/22 - 3
1-196715062-T-A c.3426T>A p.Y1142* Nonsense 21/22 - 1
1-196715063-C-A c.3427C>A p.Q1143K Missense 21/22 - 1
1-196715063-C-G c.3427C>G p.Q1143E Missense 21/22 - 8
1-196715067-T-C c.3431T>C p.L1144P Missense 21/22 - 4
1-196715067-T-G c.3431T>G p.L1144R Missense 21/22 - 5
1-196715070-A-C c.3434A>C p.E1145A Missense 21/22 - 1
1-196715071-G-C c.3435G>C p.E1145D Missense 21/22 - 2
1-196715071-G-T c.3435G>T p.E1145D Missense 21/22 - 1
1-196715072-GG-AC c.3436_3437delinsAC p.G1146T Missense 21/22 - 1
1-196715081-C-T c.3445C>T p.R1149* Nonsense 21/22 - 5
1-196715082-G-A c.3446G>A p.R1149Q Missense 21/22 - 4
1-196715087-A-G c.3451A>G p.T1151A Missense 21/22 - 1
1-196715088-C-T c.3452C>T p.T1151I Missense 21/22 - 1
1-196715090-T-A c.3454T>A p.C1152S Missense 21/22 - 4
1-196715099-G-A c.3463G>A p.G1155R Missense 21/22 - 5
1-196715099-G-T c.3463G>T p.G1155* Nonsense 21/22 - 1
1-196715100-G-A c.3464G>A p.G1155E Missense 21/22 - 1
1-196715100-G-T c.3464G>T p.G1155V Missense 21/22 - 1
1-196715101-A-C c.3465A>C p.G1155= Synonymous 21/22 - 2
1-196715101-A-G c.3465A>G p.G1155= Synonymous 21/22 - 3
1-196715101-A-T c.3465A>T p.G1155= Synonymous 21/22 - 2
1-196715102-C-CA c.3468dup p.W1157Mfs*22 Frameshift 21/22 - 2
1-196715105-T-A c.3469T>A p.W1157R Missense 21/22 - 8
1-196715105-T-C c.3469T>C p.W1157R Missense 21/22 - 9
1-196715106-G-T c.3470G>T p.W1157L Missense 21/22 - 2
1-196715109-C-A c.3473C>A p.S1158* Nonsense 21/22 - 1
1-196715109-C-G c.3473C>G p.S1158* Nonsense 21/22 - 2
1-196715111-G-A c.3475G>A p.E1159K Missense 21/22 - 1
1-196715117-C-A c.3481C>A p.P1161T Missense 21/22 - 1
1-196715117-C-G c.3481C>G p.P1161A Missense 21/22 - 1
1-196715117-C-T c.3481C>T p.P1161S Missense 21/22 - 4
1-196715116-AC-A c.3482del p.P1161Qfs*8 Frameshift 21/22 - 1
1-196715118-C-A c.3482C>A p.P1161Q Missense 21/22 - 1
1-196715119-A-C c.3483A>C p.P1161= Synonymous 21/22 - 1
1-196715119-A-G c.3483A>G p.P1161= Synonymous 21/22 - 1
1-196715119-A-T c.3483A>T p.P1161= Synonymous 21/22 - 1
1-196715120-A-G c.3484A>G p.K1162E Missense 21/22 - 1
1-196715118-CA-C c.3486del p.K1162Nfs*7 Frameshift 21/22 - 3
1-196715122-A-C c.3486A>C p.K1162N Missense 21/22 - 1
1-196715122-A-G c.3486A>G p.K1162= Synonymous 21/22 - 1
1-196715122-A-T c.3486A>T p.K1162N Missense 21/22 - 1
1-196715123-T-C c.3487T>C p.C1163R Missense 21/22 - 1
1-196715123-TG-GC c.3487_3488delinsGC p.C1163A Missense 21/22 - 1
1-196715125-C-G c.3489C>G p.C1163W Missense 21/22 - 6
1-196715127-TA-AT c.3491_3492delinsAT p.L1164Y Missense 21/22 - 1
1-196715129-C-T c.3493C>T p.H1165Y Missense 21/22 - 4
1-196715130-G-A c.3493+1G>A - IntronicSNV - 21/21 1
1-196715134-G-A c.3493+5G>A - IntronicSNV - 21/21 1
1-196715439-G-A c.3493+310G>A - IntronicSNV - 21/21 1
1-196715666-G-A c.3493+537G>A - IntronicSNV - 21/21 1
1-196715666-G-C c.3493+537G>C - IntronicSNV - 21/21 1
1-196715666-G-T c.3493+537G>T - IntronicSNV - 21/21 1
1-196715667-A-T c.3493+538A>T - IntronicSNV - 21/21 2
1-196716243-C-A c.3496C>A p.P1166T Missense 22/22 - 2
1-196716244-C-A c.3497C>A p.P1166Q Missense 22/22 - 1
1-196716244-C-T c.3497C>T p.P1166L Missense 22/22 - 3
1-196716245-G-A c.3498G>A p.P1166= Synonymous 22/22 - 1
1-196716248-T-A c.3501T>A p.C1167* Nonsense 22/22 - 1
1-196716249-G-A c.3502G>A p.V1168I Missense 22/22 - 1
1-196716250-T-A c.3503T>A p.V1168E Missense 22/22 - 1
1-196716250-T-C c.3503T>C p.V1168A Missense 22/22 - 1
1-196716252-A-C c.3505A>C p.I1169L Missense 22/22 - 3
1-196716252-A-T c.3505A>T p.I1169L Missense 22/22 - 3
1-196716253-T-C c.3506T>C p.I1169T Missense 22/22 - 1
1-196716254-A-C c.3507A>C p.I1169= Synonymous 22/22 - 2
1-196716254-A-T c.3507A>T p.I1169= Synonymous 22/22 - 2
1-196716257-C-T c.3510C>T p.S1170= Synonymous 22/22 - 4
1-196716258-C-T c.3511C>T p.R1171* Nonsense 22/22 - 2
1-196716259-G-A c.3512G>A p.R1171Q Missense 22/22 - 1
1-196716261-G-A c.3514G>A p.E1172K Missense 22/22 - 2
1-196716261-G-T c.3514G>T p.E1172* Nonsense 22/22 - 17
1-196716270-G-A c.3523G>A p.E1175K Missense 22/22 - 9
1-196716272-A-C c.3525A>C p.E1175D Missense 22/22 - 2
1-196716277-A-G c.3530A>G p.Y1177C Missense 22/22 - 5
1-196716280-A-T c.3533A>T p.N1178I Missense 22/22 - 1
1-196716281-C-A c.3534C>A p.N1178K Missense 22/22 - 1
1-196716283-T-C c.3536T>C p.I1179T Missense 22/22 - 1
1-196716285-G-A c.3538G>A p.A1180T Missense 22/22 - 2
1-196716288-T-C c.3541T>C p.L1181= Synonymous 22/22 - 1
1-196716290-A-G c.3543A>G p.L1181= Synonymous 22/22 - 1
1-196716289-T-C c.3542T>C p.L1181S Missense 22/22 - 1
1-196716291-AG-GC c.3544_3545delinsGC p.R1182A Missense 22/22 - 4
1-196716292-G-A c.3545G>A p.R1182K Missense 22/22 - 1
1-196716292-G-T c.3545G>T p.R1182M Missense 22/22 - 1
1-196716293-G-C c.3546G>C p.R1182S Missense 22/22 - 9
1-196716293-G-T c.3546G>T p.R1182S Missense 22/22 - 9
1-196716294-T-A c.3547T>A p.W1183R Missense 22/22 - 13
1-196716294-T-C c.3547T>C p.W1183R Missense 22/22 - 10
1-196716294-TG-GC c.3547_3548delinsGC p.W1183A Missense 22/22 - 1
1-196716295-G-A c.3548G>A p.W1183* Nonsense 22/22 - 1
1-196716295-G-T c.3548G>T p.W1183L Missense 22/22 - 19
1-196716296-G-A c.3549G>A p.W1183* Nonsense 22/22 - 6
1-196716296-G-C c.3549G>C p.W1183C Missense 22/22 - 3
1-196716296-G-T c.3549G>T p.W1183C Missense 22/22 - 4
1-196716297-A-C c.3550A>C p.T1184P Missense 22/22 - 1
1-196716297-A-G c.3550A>G p.T1184A Missense 22/22 - 1
1-196716298-C-G c.3551C>G p.T1184R Missense 22/22 - 11
1-196716298-C-T c.3551C>T p.T1184I Missense 22/22 - 2
1-196716300-G-C c.3553G>C p.A1185P Missense 22/22 - 1
1-196716301-C-A c.3554C>A p.A1185D Missense 22/22 - 3
1-196716301-C-G c.3554C>G p.A1185G Missense 22/22 - 2
1-196716303-AA-GC c.3556_3557delinsGC p.K1186A Missense 22/22 - 4
1-196716304-A-C c.3557A>C p.K1186T Missense 22/22 - 3
1-196716308-G-C c.3561G>C p.Q1187H Missense 22/22 - 1
1-196716308-G-T c.3561G>T p.Q1187H Missense 22/22 - 1
1-196716309-AA-GC c.3562_3563delinsGC p.K1188A Missense 22/22 - 4
1-196716309-A-G c.3562A>G p.K1188E Missense 22/22 - 1
1-196716312-C-T c.3565C>T p.L1189F Missense 22/22 - 4
1-196716313-T-A c.3566T>A p.L1189H Missense 22/22 - 2
1-196716313-T-C c.3566T>C p.L1189P Missense 22/22 - 1
1-196716313-T-G c.3566T>G p.L1189R Missense 22/22 - 10
1-196716315-T-C c.3568T>C p.Y1190H Missense 22/22 - 2
1-196716319-C-A c.3572C>A p.S1191* Nonsense 22/22 - 1
1-196716319-C-G c.3572C>G p.S1191W Missense 22/22 - 9
1-196716319-CG-GT c.3572_3573delinsGT p.S1191C Missense 22/22 - 1
1-196716319-C-T c.3572C>T p.S1191L Missense 22/22 - 65
1-196716320-G-A c.3573G>A p.S1191= Synonymous 22/22 - 3
1-196716321-AGA-TGT c.3574_3576delinsTGT p.R1192C Missense 22/22 - 1
1-196716322-G-T c.3575G>T p.R1192I Missense 22/22 - 2
1-196716325-C-G c.3578C>G p.T1193R Missense 22/22 - 1
1-196716326-A-T c.3579A>T p.T1193= Synonymous 22/22 - 1
1-196716327-G-A c.3580G>A p.G1194S Missense 22/22 - 6
1-196716328-G-A c.3581G>A p.G1194D Missense 22/22 - 11
1-196716330-G-A c.3583G>A p.E1195K Missense 22/22 - 1
1-196716330-G-T c.3583G>T p.E1195* Nonsense 22/22 - 2
1-196716337-T-C c.3590T>C p.V1197A Missense 22/22 - 41
1-196716339-G-A c.3592G>A p.E1198K Missense 22/22 - 8
1-196716339-G-T c.3592G>T p.E1198* Nonsense 22/22 - 3
1-196716340-A-C c.3593A>C p.E1198A Missense 22/22 - 7
1-196716340-A-G c.3593A>G p.E1198G Missense 22/22 - 1
1-196716340-A-T c.3593A>T p.E1198V Missense 22/22 - 4
1-196716341-A-T c.3594A>T p.E1198D Missense 22/22 - 1
1-196716342-T-C c.3595T>C p.F1199L Missense 22/22 - 2
1-196716343-T-C c.3596T>C p.F1199S Missense 22/22 - 4
1-196716345-G-T c.3598G>T p.V1200L Missense 22/22 - 2
1-196716352-A-T c.3605A>T p.K1202I Missense 22/22 - 3
1-196716354-CG-GA c.3607_3608delinsGA p.R1203E Missense 22/22 - 2
1-196716354-CG-GC c.3607_3608delinsGC p.R1203A Missense 22/22 - 1
1-196716354-C-T c.3607C>T p.R1203W Missense 22/22 - 8
1-196716355-G-A c.3608G>A p.R1203Q Missense 22/22 - 1
1-196716355-G-C c.3608G>C p.R1203P Missense 22/22 - 3
1-196716355-G-T c.3608G>T p.R1203L Missense 22/22 - 1
1-196716356-G-A c.3609G>A p.R1203= Synonymous 22/22 - 1
1-196716356-G-C c.3609G>C p.R1203= Synonymous 22/22 - 1
1-196716357-G-A c.3610G>A p.G1204R Missense 22/22 - 4
1-196716358-G-A c.3611G>A p.G1204E Missense 22/22 - 1
1-196716360-T-C c.3613T>C p.Y1205H Missense 22/22 - 3
1-196716362-T-A c.3615T>A p.Y1205* Nonsense 22/22 - 1
1-196716363-CG-GC c.3616_3617delinsGC p.R1206A Missense 22/22 - 3
1-196716363-CGT-GAG c.3616_3618delinsGAG p.R1206E Missense 22/22 - 1
1-196716363-CGT-TGA c.3616_3618delinsTGA p.R1206* Nonsense 22/22 - 1
1-196716363-C-T c.3616C>T p.R1206C Missense 22/22 - 13
1-196716364-G-A c.3617G>A p.R1206H Missense 22/22 - 2
1-196716365-T-A c.3618T>A p.R1206= Synonymous 22/22 - 1
1-196716365-T-C c.3618T>C p.R1206= Synonymous 22/22 - 1
1-196716365-T-G c.3618T>G p.R1206= Synonymous 22/22 - 1
1-196716366-C-A c.3619C>A p.L1207I Missense 22/22 - 1
1-196716367-T-A c.3620T>A p.L1207H Missense 22/22 - 1
1-196716374-A-C c.3627A>C p.S1209= Synonymous 22/22 - 1
1-196716374-A-G c.3627A>G p.S1209= Synonymous 22/22 - 1
1-196716374-A-T c.3627A>T p.S1209= Synonymous 22/22 - 1
1-196716375-C-A c.3628C>A p.R1210S Missense 22/22 - 2
1-196716375-CG-GC c.3628_3629delinsGC p.R1210A Missense 22/22 - 3
1-196716375-CG-GT c.3628_3629delinsGT p.R1210V Missense 22/22 - 2
1-196716375-C-T c.3628C>T p.R1210C Missense 22/22 - 150
1-196716376-G-A c.3629G>A p.R1210H Missense 22/22 - 3
1-196716376-G-T c.3629G>T p.R1210L Missense 22/22 - 1
1-196716376-GT-AA c.3629_3630delinsAA p.R1210Q Missense 22/22 - 1
1-196716381-C-A c.3634C>A p.H1212N Missense 22/22 - 1
1-196716381-C-T c.3634C>T p.H1212Y Missense 22/22 - 1
1-196716387-T-A c.3640T>A p.L1214M Missense 22/22 - 1
1-196716389-G-A c.3642G>A p.L1214= Synonymous 22/22 - 1
1-196716390-C-G c.3643C>G p.R1215G Missense 22/22 - 23
1-196716390-CGA-TGT c.3643_3645delinsTGT p.R1215C Missense 22/22 - 1
1-196716390-C-T c.3643C>T p.R1215* Nonsense 22/22 - 7
1-196716391-G-A c.3644G>A p.R1215Q Missense 22/22 - 38
1-196716391-G-T c.3644G>T p.R1215L Missense 22/22 - 3
1-196716391-GAAC-G c.3649_3651del p.T1217del InFrameDeletion 22/22 - 1
1-196716399-T-C c.3652T>C p.C1218R Missense 22/22 - 4
1-196716399-T-G c.3652T>G p.C1218G Missense 22/22 - 2
1-196716400-G-A c.3653G>A p.C1218Y Missense 22/22 - 1
1-196716400-G-T c.3653G>T p.C1218F Missense 22/22 - 1
1-196716401-T-C c.3654T>C p.C1218= Synonymous 22/22 - 2
1-196716404-G-C c.3657G>C p.W1219C Missense 22/22 - 3
1-196716404-G-T c.3657G>T p.W1219C Missense 22/22 - 3
1-196716410-G-A c.3663G>A p.G1221= Synonymous 22/22 - 5
1-196716413-A-G c.3666A>G p.K1222= Synonymous 22/22 - 1
1-196716415-T-A c.3668T>A p.L1223Q Missense 22/22 - 1
1-196716415-TG-GT c.3668_3669delinsGT p.L1223R Missense 22/22 - 1
1-196716417-G-A c.3670G>A p.E1224K Missense 22/22 - 1
1-196716417-G-T c.3670G>T p.E1224* Nonsense 22/22 - 1
1-196716421-A-T c.3674A>T p.Y1225F Missense 22/22 - 1
1-196716423-C-T c.3676C>T p.P1226S Missense 22/22 - 7
1-196716424-C-T c.3677C>T p.P1226L Missense 22/22 - 1
1-196716427-C-A c.3680C>A p.T1227N Missense 22/22 - 1
1-196716436-AA-GC c.3689_3690delinsGC p.K1230S Missense 22/22 - 1
1-196716433-CA-C c.3691del p.R1231Dfs*40 Frameshift 22/22 - 1
1-196716438-A-T c.3691A>T p.R1231* Nonsense 22/22 - 1
1-196716472-C-G c.*29C>G - 3-UTRSNV 22/22 - 1
1-196716472-C-T c.*29C>T - 3-UTRSNV 22/22 - 1
1-196716498-C-A c.*55C>A - 3-UTRSNV 22/22 - 1
1-196716498-C-T c.*55C>T - 3-UTRSNV 22/22 - 1
1-196716621-T-A c.*178T>A - 3-UTRSNV 22/22 - 1