MAPK1 mitogen-activated protein kinase 1

Annotation transcript: NM_002745.5

1694 unique variant annotations were identified in 395 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
22-22114036-G-C c.*4503C>G - 3_prime_UTR_variant 9/9 - 3
22-22114538-A-C c.*4001T>G - 3_prime_UTR_variant 9/9 - 1
22-22115004-C-G c.*3535G>C - 3_prime_UTR_variant 9/9 - 9
22-22115353-G-A c.*3186C>T - 3_prime_UTR_variant 9/9 - 3
22-22115886-C-T c.*2653G>A - 3_prime_UTR_variant 9/9 - 6
22-22116202-C-G c.*2337G>C - 3_prime_UTR_variant 9/9 - 3
22-22116467-C-T c.*2072G>A - 3_prime_UTR_variant 9/9 - 7
22-22117502-A-C c.*1037T>G - 3_prime_UTR_variant 9/9 - 3
22-22118229-C-T c.*310G>A - 3_prime_UTR_variant 9/9 - 2
22-22119703-C-T c.*10-1174G>A - intron_variant - 8/8 1
22-22115498-T-C c.*3041A>G - IntronicSNV 9/9 - 2
22-22121554-T-C c.*9+1930A>G - IntronicSNV - 8/8 4
22-22121554-T-G c.*9+1930A>C - IntronicSNV - 8/8 4
22-22122149-T-C c.*9+1335A>G - IntronicSNV - 8/8 2
22-22123189-A-C c.*9+295T>G - IntronicSNV - 8/8 7
22-22123189-A-T c.*9+295T>A - IntronicSNV - 8/8 7
22-22123499-TCT-CCA c.1075_1077delinsTGG p.R359W Missense 8/9 - 1
22-22123500-CT-AG c.1075_1076inv p.R359L Missense 8/9 - 1
22-22123500-CT-TG c.1075_1076delinsCA p.R359Q Missense 8/9 - 1
22-22123513-G-A c.1063C>T p.Q355* Nonsense 8/9 - 1
22-22123532-A-G c.1044T>C p.F348= Synonymous 8/9 - 1
22-22123535-AAT-CCA c.1039_1041delinsTGG p.I347W Missense 8/9 - 1
22-22123536-AT-TA c.1039_1040delinsTA p.I347Y Missense 8/9 - 1
22-22123567-C-T c.1009G>A p.D337N Missense 8/9 - 1
22-22123570-C-T c.1006G>A p.D336N Missense 8/9 - 1
22-22123569-T-TC c.1006dup p.D336Gfs*2 Frameshift 8/9 - 1
22-22123576-C-CGA c.999_1000insTC p.E334Sfs*14 Frameshift 8/9 - 1
22-22123589-G-A c.987C>T p.F329= Synonymous 8/9 - 1
22-22123590-A-T c.986T>A p.F329Y Missense 8/9 - 1
22-22123593-G-A c.983C>T p.P328L Missense 8/9 - 1
22-22123594-G-A c.982C>T p.P328S Missense 8/9 - 1
22-22123600-C-T c.976G>A p.E326K Missense 8/9 - 2
22-22123606-T-C c.970A>G p.I324V Missense 8/9 - 1
22-22123608-G-C c.968C>G p.P323R Missense 8/9 - 1
22-22127163-T-A c.965A>T p.E322V Missense 7/9 - 2
22-22127163-T-G c.965A>C p.E322A Missense 7/9 - 3
22-22127164-C-A c.964G>T p.E322* Nonsense 7/9 - 1
22-22127164-C-G c.964G>C p.E322Q Missense 7/9 - 1
22-22127164-C-T c.964G>A p.E322K Missense 7/9 - 50
22-22127165-G-A c.963C>T p.D321= Synonymous 7/9 - 1
22-22127166-T-A c.962A>T p.D321V Missense 7/9 - 2
22-22127166-T-C c.962A>G p.D321G Missense 7/9 - 3
22-22127166-T-G c.962A>C p.D321A Missense 7/9 - 1
22-22127167-C-T c.961G>A p.D321N Missense 7/9 - 16
22-22127169-CT-GC c.958_959delinsGC p.S320A Missense 7/9 - 2
22-22127172-G-A c.956C>T p.P319L Missense 7/9 - 1
22-22127173-G-A c.955C>T p.P319S Missense 7/9 - 1
22-22127175-T-C c.953A>G p.D318G Missense 7/9 - 1
22-22127175-T-G c.953A>C p.D318A Missense 7/9 - 1
22-22127176-C-T c.952G>A p.D318N Missense 7/9 - 2
22-22127178-T-A c.950A>T p.Y317F Missense 7/9 - 5
22-22127181-T-A c.947A>T p.Y316F Missense 7/9 - 1
22-22127182-A-G c.946T>C p.Y316H Missense 7/9 - 1
22-22127187-T-G c.941A>C p.E314A Missense 7/9 - 1
22-22127215-C-G c.913G>C p.E305Q Missense 7/9 - 1
22-22127221-C-T c.907G>A p.E303K Missense 7/9 - 1
22-22127228-C-G c.900G>C p.K300N Missense 7/9 - 1
22-22127239-T-C c.889A>G p.N297D Missense 7/9 - 1
22-22127240-G-A c.888C>T p.F296= Synonymous 7/9 - 1
22-22127247-AA-GC c.880_881delinsGC p.L294A Missense 7/9 - 1
22-22127250-A-T c.878T>A p.M293K Missense 7/9 - 2
22-22127256-T-C c.872A>G p.D291G Missense 7/9 - 1
22-22129215-A-G c.857-1944T>C - IntronicSNV - 6/8 8
22-22130945-C-A c.857-3674G>T - IntronicSNV - 6/8 2
22-22130945-C-G c.857-3674G>C - IntronicSNV - 6/8 2
22-22131125-T-G c.857-3854A>C - IntronicSNV - 6/8 22
22-22136398-T-C c.856+6148A>G - IntronicSNV - 6/8 3
22-22136398-T-G c.856+6148A>C - IntronicSNV - 6/8 3
22-22142388-CA-C c.856+157del - IntronicDeletion - 6/8 1
22-22142501-C-T c.856+45G>A - IntronicSNV - 6/8 1
22-22142552-A-G c.850T>C p.S284P Missense 6/9 - 1
22-22142561-T-C c.841A>G p.N281D Missense 6/9 - 1
22-22142568-CAG-AAA c.832_834delinsTTT p.L278F Missense 6/9 - 1
22-22142578-C-A c.824G>T p.W275L Missense 6/9 - 1
22-22142580-T-C c.822A>G p.P274= Synonymous 6/9 - 1
22-22142593-TT-GC c.808_809delinsGC p.K270A Missense 6/9 - 1
22-22142600-G-A c.802C>T p.P268S Missense 6/9 - 1
22-22142608-A-G c.794T>C p.L265P Missense 6/9 - 3
22-22142614-T-C c.788A>G p.Y263C Missense 6/9 - 1
22-22142623-G-C c.779C>G p.A260G Missense 6/9 - 1
22-22142624-C-A c.778G>T p.A260S Missense 6/9 - 1
22-22142647-A-G c.755T>C p.L252P Missense 6/9 - 1
22-22142662-G-A c.740C>T p.P247L Missense 6/9 - 1
22-22142664-GGA-CTC c.736_738delinsGAG p.S246E Missense 6/9 - 1
22-22142665-GA-TT c.736_737delinsAA p.S246N Missense 6/9 - 1
22-22142666-A-C c.736T>G p.S246A Missense 6/9 - 2
22-22142668-C-T c.734G>A p.G245E Missense 6/9 - 1
22-22142677-C-A c.725G>T p.G242V Missense 6/9 - 1
22-22142954-C-T c.724+29G>A - IntronicSNV - 5/8 1
22-22142994-TT-GC c.712_713delinsGC p.N238A Missense 5/9 - 1
22-22143001-G-T c.706C>A p.Q236K Missense 5/9 - 1
22-22143009-TA-GC c.697_698delinsGC p.Y233A Missense 5/9 - 1
22-22143033-CT-TG c.673_674delinsCA p.R225Q Missense 5/9 - 1
22-22143034-T-C c.673A>G p.R225G Missense 5/9 - 1
22-22143049-C-T c.658G>A p.E220K Missense 5/9 - 1
22-22143063-C-T c.644G>A p.G215D Missense 5/9 - 1
22-22143079-C-G c.628G>C p.D210H Missense 5/9 - 1
22-22143082-T-C c.625A>G p.I209V Missense 5/9 - 1
22-22145253-T-C c.610-2156A>G - IntronicSNV - 4/8 1
22-22145253-T-G c.610-2156A>C - IntronicSNV - 4/8 1
22-22146399-A-G c.610-3302T>C - IntronicSNV - 4/8 3
22-22150982-G-A c.609+2319C>T - IntronicSNV - 4/8 1
22-22151286-C-G c.609+2015G>C - IntronicSNV - 4/8 2
22-22151939-A-C c.609+1362T>G - IntronicSNV - 4/8 1
22-22153305-G-A c.605C>T p.S202F Missense 4/9 - 1
22-22153306-A-G c.604T>C p.S202P Missense 4/9 - 1
22-22153313-CAT-ACA c.595_597delinsTGT p.M199C Missense 4/9 - 1
22-22153314-AT-GC c.595_596delinsGC p.M199A Missense 4/9 - 1
22-22153319-T-A c.591A>T p.E197D Missense 4/9 - 1
22-22153319-T-G c.591A>C p.E197D Missense 4/9 - 1
22-22153321-C-T c.589G>A p.E197K Missense 4/9 - 1
22-22153329-C-G c.581G>C p.R194T Missense 4/9 - 1
22-22153332-T-A c.578A>T p.Y193F Missense 4/9 - 1
22-22153338-C-T c.572G>A p.R191H Missense 4/9 - 1
22-22153339-G-A c.571C>T p.R191C Missense 4/9 - 1
22-22153340-TGT-GTC c.568_570delinsGAC p.T190D Missense 4/9 - 1
22-22153342-T-C c.568A>G p.T190A Missense 4/9 - 5
22-22153344-G-A c.566C>T p.A189V Missense 4/9 - 1
22-22153344-GC-CA c.565_566delinsTG p.A189C Missense 4/9 - 1
22-22153349-A-C c.561T>G p.Y187* Nonsense 4/9 - 1
22-22153349-A-T c.561T>A p.Y187* Nonsense 4/9 - 1
22-22153350-T-A c.560A>T p.Y187F Missense 4/9 - 2
22-22153350-TA-GC c.559_560delinsGC p.Y187A Missense 4/9 - 2
22-22153354-C-T c.556G>A p.E186K Missense 4/9 - 1
22-22153356-GT-TA c.553_554delinsTA p.T185* Nonsense 4/9 - 1
22-22153356-GT-TC c.553_554delinsGA p.T185E Missense 4/9 - 5
22-22153357-T-C c.553A>G p.T185A Missense 4/9 - 5
22-22153374-T-G c.536A>C p.D179A Missense 4/9 - 1
22-22153375-C-T c.535G>A p.D179N Missense 4/9 - 2
22-22153380-T-C c.530A>G p.D177G Missense 4/9 - 1
22-22153384-G-A c.526C>T p.P176S Missense 4/9 - 1
22-22153386-T-G c.524A>C p.D175A Missense 4/9 - 1
22-22153387-C-T c.523G>A p.D175N Missense 4/9 - 1
22-22153389-G-A c.521C>T p.A174V Missense 4/9 - 1
22-22153394-ACG-CTT c.514_516delinsAAG p.R172K Missense 4/9 - 1
22-22153395-C-T c.515G>A p.R172H Missense 4/9 - 17
22-22153396-G-A c.514C>T p.R172C Missense 4/9 - 1
22-22153404-C-T c.506G>A p.G169D Missense 4/9 - 1
22-22153405-C-T c.505G>A p.G169S Missense 4/9 - 1
22-22153407-A-T c.503T>A p.F168Y Missense 4/9 - 1
22-22153408-A-T c.502T>A p.F168I Missense 4/9 - 1
22-22153409-G-C c.501C>G p.D167E Missense 4/9 - 1
22-22153409-G-T c.501C>A p.D167E Missense 4/9 - 1
22-22153410-T-G c.500A>C p.D167A Missense 4/9 - 1
22-22153413-CA-GC c.496_497delinsGC p.C166A Missense 4/9 - 1
22-22156789-C-A c.492+3350G>T - IntronicSNV - 3/8 1
22-22156789-C-T c.492+3350G>A - IntronicSNV - 3/8 1
22-22160140-T-C c.491A>G p.K164R Missense 3/9 - 1
22-22160142-G-A c.489C>T p.L163= Synonymous 3/9 - 1
22-22160142-G-C c.489C>G p.L163= Synonymous 3/9 - 1
22-22160142-G-T c.489C>A p.L163= Synonymous 3/9 - 1
22-22160146-T-G c.485A>C p.D162A Missense 3/9 - 1
22-22160147-C-T c.484G>A p.D162N Missense 3/9 - 1
22-22160149-C-G c.482G>C p.C161S Missense 3/9 - 1
22-22160150-A-T c.481T>A p.C161S Missense 3/9 - 1
22-22160165-G-C c.466C>G p.L156V Missense 3/9 - 1
22-22160166-C-A c.465G>T p.L155= Synonymous 3/9 - 1
22-22160166-CAG-ACA c.463_465delinsTGT p.L155C Missense 3/9 - 1
22-22160166-C-G c.465G>C p.L155= Synonymous 3/9 - 1
22-22160166-C-T c.465G>A p.L155= Synonymous 3/9 - 1
22-22160168-G-A c.463C>T p.L155= Synonymous 3/9 - 1
22-22160167-A-G c.464T>C p.L155P Missense 3/9 - 1
22-22160167-AG-GC c.463_464delinsGC p.L155A Missense 3/9 - 2
22-22160173-G-A c.458C>T p.S153F Missense 3/9 - 1
22-22160176-G-A c.455C>T p.P152L Missense 3/9 - 1
22-22160177-G-A c.454C>T p.P152S Missense 3/9 - 1
22-22160182-A-C c.449T>G p.L150R Missense 3/9 - 1
22-22160182-A-G c.449T>C p.L150P Missense 3/9 - 1
22-22160183-G-A c.448C>T p.L150F Missense 3/9 - 1
22-22160185-T-G c.446A>C p.D149A Missense 3/9 - 1
22-22160186-C-A c.445G>T p.D149Y Missense 3/9 - 1
22-22160188-C-A c.443G>T p.R148L Missense 3/9 - 1
22-22160188-C-T c.443G>A p.R148H Missense 3/9 - 2
22-22160192-G-A c.439C>T p.H147Y Missense 3/9 - 2
22-22160202-A-C c.429T>G p.A143= Synonymous 3/9 - 1
22-22160202-A-G c.429T>C p.A143= Synonymous 3/9 - 1
22-22160202-A-T c.429T>A p.A143= Synonymous 3/9 - 1
22-22160206-G-A c.425C>T p.S142L Missense 3/9 - 3
22-22160206-GA-TC c.424_425inv p.S142E Missense 3/9 - 1
22-22160207-A-C c.424T>G p.S142A Missense 3/9 - 2
22-22160224-C-T c.407G>A p.G136E Missense 3/9 - 1
22-22160227-C-G c.404G>C p.R135T Missense 3/9 - 2
22-22160227-C-T c.404G>A p.R135K Missense 3/9 - 4
22-22160239-T-A c.392A>T p.Y131F Missense 3/9 - 1
22-22160239-T-C c.392A>G p.Y131C Missense 3/9 - 2
22-22160240-A-G c.391T>C p.Y131H Missense 3/9 - 2
22-22160240-A-T c.391T>A p.Y131N Missense 3/9 - 1
22-22160242-A-C c.389T>G p.L130R Missense 3/9 - 1
22-22160248-T-C c.383A>G p.Y128C Missense 3/9 - 1
22-22160248-T-G c.383A>C p.Y128S Missense 3/9 - 1
22-22160251-CA-AG c.379_380delinsCT p.C127L Missense 3/9 - 1
22-22160251-CA-AT c.379_380delinsAT p.C127I Missense 3/9 - 1
22-22160252-A-G c.379T>C p.C127R Missense 3/9 - 1
22-22160260-TC-GT c.370_371delinsAC p.D124T Missense 3/9 - 1
22-22160261-C-T c.370G>A p.D124N Missense 3/9 - 1
22-22160262-A-C c.369T>G p.N123K Missense 3/9 - 1
22-22160262-A-T c.369T>A p.N123K Missense 3/9 - 1
22-22160262-ATT-CTC c.367_369delinsGAG p.N123E Missense 3/9 - 1
22-22160263-T-A c.368A>T p.N123I Missense 3/9 - 1
22-22160263-TT-CA c.367_368delinsTG p.N123C Missense 3/9 - 1
22-22160263-TT-GC c.367_368delinsGC p.N123A Missense 3/9 - 1
22-22160264-T-C c.367A>G p.N123D Missense 3/9 - 1
22-22160265-G-C c.366C>G p.S122R Missense 3/9 - 1
22-22160265-GC-CA c.365_366delinsTG p.S122M Missense 3/9 - 1
22-22160265-GC-CT c.365_366delinsAG p.S122K Missense 3/9 - 1
22-22160265-GCT-CCA c.364_366delinsTGG p.S122W Missense 3/9 - 1
22-22160265-GCT-CTC c.364_366delinsGAG p.S122E Missense 3/9 - 1
22-22160265-G-T c.366C>A p.S122R Missense 3/9 - 1
22-22160267-T-G c.364A>C p.S122R Missense 3/9 - 1
22-22160266-C-A c.365G>T p.S122I Missense 3/9 - 1
22-22160266-C-G c.365G>C p.S122T Missense 3/9 - 1
22-22160266-C-T c.365G>A p.S122N Missense 3/9 - 1
22-22160266-CT-AA c.364_365delinsTT p.S122F Missense 3/9 - 1
22-22160266-CT-AC c.364_365delinsGT p.S122V Missense 3/9 - 1
22-22160266-CT-GC c.364_365delinsGC p.S122A Missense 3/9 - 1
22-22160266-CT-GG c.364_365delinsCC p.S122P Missense 3/9 - 1
22-22160266-CT-TA c.364_365delinsTA p.S122Y Missense 3/9 - 1
22-22160266-CT-TC c.364_365delinsGA p.S122D Missense 3/9 - 1
22-22160266-CT-TG c.364_365delinsCA p.S122H Missense 3/9 - 1
22-22160267-T-A c.364A>T p.S122C Missense 3/9 - 1
22-22160267-T-C c.364A>G p.S122G Missense 3/9 - 1
22-22160268-GAG-CAT c.361_363delinsATG p.L121M Missense 3/9 - 1
22-22160268-GAG-CCA c.361_363delinsTGG p.L121W Missense 3/9 - 1
22-22160268-GAG-CTC c.361_363inv p.L121E Missense 3/9 - 1
22-22160268-GA-TT c.362_363delinsAA p.L121Q Missense 3/9 - 1
22-22160269-A-C c.362T>G p.L121R Missense 3/9 - 1
22-22160269-AG-CA c.361_362delinsTG p.L121C Missense 3/9 - 1
22-22160269-A-T c.362T>A p.L121H Missense 3/9 - 1
22-22160270-G-A c.361C>T p.L121F Missense 3/9 - 1
22-22160270-G-C c.361C>G p.L121V Missense 3/9 - 1
22-22160270-G-T c.361C>A p.L121I Missense 3/9 - 1
22-22160271-G-C c.360C>G p.H120Q Missense 3/9 - 1
22-22160271-G-T c.360C>A p.H120Q Missense 3/9 - 1
22-22160271-GTG-CAT c.358_360delinsATG p.H120M Missense 3/9 - 1
22-22160271-GTG-CTC c.358_360delinsGAG p.H120E Missense 3/9 - 1
22-22160271-GTG-CTT c.358_360delinsAAG p.H120K Missense 3/9 - 1
22-22160272-T-A c.359A>T p.H120L Missense 3/9 - 1
22-22160272-T-C c.359A>G p.H120R Missense 3/9 - 1
22-22160272-TG-AA c.358_359delinsTT p.H120F Missense 3/9 - 1
22-22160272-TG-AC c.358_359delinsGT p.H120V Missense 3/9 - 1
22-22160272-TG-AT c.358_359delinsAT p.H120I Missense 3/9 - 1
22-22160272-TG-CT c.358_359delinsAG p.H120S Missense 3/9 - 1
22-22160272-TG-GC c.358_359delinsGC p.H120A Missense 3/9 - 1
22-22160272-TG-GT c.358_359delinsAC p.H120T Missense 3/9 - 1
22-22160273-G-A c.358C>T p.H120Y Missense 3/9 - 1
22-22160273-G-C c.358C>G p.H120D Missense 3/9 - 1
22-22160273-G-T c.358C>A p.H120N Missense 3/9 - 1
22-22160274-T-A c.357A>T p.Q119H Missense 3/9 - 1
22-22160274-T-G c.357A>C p.Q119H Missense 3/9 - 1
22-22160274-TTG-ATA c.355_357delinsTAT p.Q119Y Missense 3/9 - 1
22-22160274-TTG-CAT c.355_357delinsATG p.Q119M Missense 3/9 - 1
22-22160274-TTG-CCA c.355_357delinsTGG p.Q119W Missense 3/9 - 1
22-22160274-TTG-GTC c.355_357delinsGAC p.Q119D Missense 3/9 - 1
22-22160274-TTG-GTT c.355_357delinsAAC p.Q119N Missense 3/9 - 1
22-22160275-T-A c.356A>T p.Q119L Missense 3/9 - 1
22-22160275-T-C c.356A>G p.Q119R Missense 3/9 - 1
22-22160275-TG-AC c.355_356delinsGT p.Q119V Missense 3/9 - 1
22-22160275-TG-CC c.355_356delinsGG p.Q119G Missense 3/9 - 1
22-22160275-TG-GC c.355_356delinsGC p.Q119A Missense 3/9 - 2
22-22160276-G-C c.355C>G p.Q119E Missense 3/9 - 1
22-22160276-G-T c.355C>A p.Q119K Missense 3/9 - 1
22-22160277-TG-CA c.353_354inv p.T118M Missense 3/9 - 1
22-22160277-TG-GT c.353_354delinsAC p.T118N Missense 3/9 - 1
22-22160277-TGT-AAA c.352_354delinsTTT p.T118F Missense 3/9 - 1
22-22160277-TGT-ACA c.352_354inv p.T118C Missense 3/9 - 1
22-22160277-TGT-ATA c.352_354delinsTAT p.T118Y Missense 3/9 - 1
22-22160277-TGT-ATG c.352_354delinsCAT p.T118H Missense 3/9 - 1
22-22160277-TGT-GTC c.352_354delinsGAC p.T118D Missense 3/9 - 1
22-22160278-G-A c.353C>T p.T118I Missense 3/9 - 1
22-22160278-G-T c.353C>A p.T118K Missense 3/9 - 1
22-22160278-GT-AC c.352_353inv p.T118V Missense 3/9 - 1
22-22160278-GT-TC c.352_353delinsGA p.T118E Missense 3/9 - 1
22-22160279-T-A c.352A>T p.T118S Missense 3/9 - 1
22-22160279-T-C c.352A>G p.T118A Missense 3/9 - 1
22-22160279-T-G c.352A>C p.T118P Missense 3/9 - 1
22-22160280-C-A c.351G>T p.K117N Missense 3/9 - 2
22-22160280-C-G c.351G>C p.K117N Missense 3/9 - 2
22-22160280-CT-GC c.350_351delinsGC p.K117S Missense 3/9 - 1
22-22160280-CTT-AAA c.349_351delinsTTT p.K117F Missense 3/9 - 1
22-22160280-CTT-ACA c.349_351delinsTGT p.K117C Missense 3/9 - 1
22-22160280-CTT-ATG c.349_351delinsCAT p.K117H Missense 3/9 - 1
22-22160280-CTT-GTC c.349_351delinsGAC p.K117D Missense 3/9 - 1
22-22160281-T-A c.350A>T p.K117M Missense 3/9 - 1
22-22160281-T-C c.350A>G p.K117R Missense 3/9 - 1
22-22160281-T-G c.350A>C p.K117T Missense 3/9 - 1
22-22160281-TT-AC c.349_350delinsGT p.K117V Missense 3/9 - 1
22-22160281-TT-CA c.349_350delinsTG p.K117W Missense 3/9 - 1
22-22160281-TT-GG c.349_350delinsCC p.K117P Missense 3/9 - 1
22-22160282-T-C c.349A>G p.K117E Missense 3/9 - 1
22-22160282-T-G c.349A>C p.K117Q Missense 3/9 - 1
22-22160283-C-A c.348G>T p.L116F Missense 3/9 - 1
22-22160283-CAA-ATG c.346_348delinsCAT p.L116H Missense 3/9 - 1
22-22160283-CA-AC c.347_348delinsGT p.L116C Missense 3/9 - 1
22-22160283-CAA-GAT c.346_348delinsATC p.L116I Missense 3/9 - 1
22-22160283-CAA-GTC c.346_348delinsGAC p.L116D Missense 3/9 - 1
22-22160283-CAA-GTT c.346_348delinsAAC p.L116N Missense 3/9 - 1
22-22160283-CA-AT c.347_348delinsAT p.L116Y Missense 3/9 - 1
22-22160283-C-G c.348G>C p.L116F Missense 3/9 - 1
22-22160284-AA-CT c.346_347delinsAG p.L116R Missense 3/9 - 2
22-22160284-AA-GG c.346_347delinsCC p.L116P Missense 3/9 - 1
22-22160284-AA-GT c.346_347delinsAC p.L116T Missense 3/9 - 1
22-22160284-AA-TC c.346_347delinsGA p.L116E Missense 3/9 - 1
22-22160284-AA-TG c.346_347delinsCA p.L116Q Missense 3/9 - 1
22-22160284-AA-TT c.346_347inv p.L116K Missense 3/9 - 1
22-22160284-A-C c.347T>G p.L116W Missense 3/9 - 1
22-22160285-A-C c.346T>G p.L116V Missense 3/9 - 1
22-22160285-A-T c.346T>A p.L116M Missense 3/9 - 1
22-22160286-GAG-CAT c.343_345delinsATG p.L115M Missense 3/9 - 1
22-22160286-GAG-CCA c.343_345delinsTGG p.L115W Missense 3/9 - 1
22-22160286-GAG-CTC c.343_345inv p.L115E Missense 3/9 - 1
22-22160286-GAG-CTT c.343_345delinsAAG p.L115K Missense 3/9 - 1
22-22160286-GA-TT c.344_345delinsAA p.L115Q Missense 3/9 - 1
22-22160287-A-C c.344T>G p.L115R Missense 3/9 - 1
22-22160287-A-G c.344T>C p.L115P Missense 3/9 - 2
22-22160287-AG-CA c.343_344delinsTG p.L115C Missense 3/9 - 1
22-22160287-AG-CC c.343_344delinsGG p.L115G Missense 3/9 - 1
22-22160287-AG-GC c.343_344delinsGC p.L115A Missense 3/9 - 2
22-22160287-AG-GT c.343_344delinsAC p.L115T Missense 3/9 - 1
22-22160287-AG-TA c.343_344delinsTA p.L115Y Missense 3/9 - 1
22-22160287-AG-TC c.343_344delinsGA p.L115D Missense 3/9 - 1
22-22160287-AG-TT c.343_344delinsAA p.L115N Missense 3/9 - 1
22-22160287-A-T c.344T>A p.L115H Missense 3/9 - 1
22-22160288-G-A c.343C>T p.L115F Missense 3/9 - 1
22-22160288-G-C c.343C>G p.L115V Missense 3/9 - 1
22-22160288-G-T c.343C>A p.L115I Missense 3/9 - 1
22-22160289-C-A c.342G>T p.K114N Missense 3/9 - 1
22-22160289-C-G c.342G>C p.K114N Missense 3/9 - 1
22-22160289-CT-GA c.341_342delinsTC p.K114I Missense 3/9 - 1
22-22160289-CT-GC c.341_342delinsGC p.K114S Missense 3/9 - 1
22-22160289-CTT-ACA c.340_342delinsTGT p.K114C Missense 3/9 - 1
22-22160289-CTT-ATG c.340_342delinsCAT p.K114H Missense 3/9 - 1
22-22160290-T-A c.341A>T p.K114M Missense 3/9 - 1
22-22160290-T-C c.341A>G p.K114R Missense 3/9 - 2
22-22160290-T-G c.341A>C p.K114T Missense 3/9 - 1
22-22160291-T-G c.340A>C p.K114Q Missense 3/9 - 1
22-22160292-GTA-CTC c.337_339delinsGAG p.Y113E Missense 3/9 - 1
22-22160292-GTA-CTT c.337_339delinsAAG p.Y113K Missense 3/9 - 1
22-22160292-GTA-TTG c.337_339delinsCAA p.Y113Q Missense 3/9 - 1
22-22160293-T-A c.338A>T p.Y113F Missense 3/9 - 1
22-22160293-TA-AC c.337_338delinsGT p.Y113V Missense 3/9 - 1
22-22160293-TA-GT c.337_338delinsAC p.Y113T Missense 3/9 - 1
22-22160293-T-C c.338A>G p.Y113C Missense 3/9 - 1
22-22160293-T-G c.338A>C p.Y113S Missense 3/9 - 1
22-22160294-A-G c.337T>C p.Y113H Missense 3/9 - 1
22-22160294-A-T c.337T>A p.Y113N Missense 3/9 - 1
22-22160295-AAG-CAT c.334_336delinsATG p.L112M Missense 3/9 - 1
22-22160295-AAG-CTC c.334_336delinsGAG p.L112E Missense 3/9 - 1
22-22160295-AAG-CTT c.334_336inv p.L112K Missense 3/9 - 1
22-22160295-AA-TT c.335_336inv p.L112Q Missense 3/9 - 1
22-22160296-A-C c.335T>G p.L112R Missense 3/9 - 1
22-22160296-A-G c.335T>C p.L112P Missense 3/9 - 2
22-22160296-AG-CA c.334_335delinsTG p.L112C Missense 3/9 - 1
22-22160296-AG-TA c.334_335delinsTA p.L112Y Missense 3/9 - 1
22-22160296-AG-TC c.334_335delinsGA p.L112D Missense 3/9 - 1
22-22160296-AG-TT c.334_335delinsAA p.L112N Missense 3/9 - 1
22-22160297-G-A c.334C>T p.L112F Missense 3/9 - 2
22-22160297-G-C c.334C>G p.L112V Missense 3/9 - 1
22-22160297-G-T c.334C>A p.L112I Missense 3/9 - 1
22-22160298-A-C c.333T>G p.D111E Missense 3/9 - 1
22-22160298-A-T c.333T>A p.D111E Missense 3/9 - 1
22-22160298-ATC-CAT c.331_333delinsATG p.D111M Missense 3/9 - 1
22-22160298-ATC-CCA c.331_333delinsTGG p.D111W Missense 3/9 - 1
22-22160298-ATC-CTT c.331_333delinsAAG p.D111K Missense 3/9 - 1
22-22160298-ATC-TTG c.331_333delinsCAA p.D111Q Missense 3/9 - 1
22-22160299-T-A c.332A>T p.D111V Missense 3/9 - 1
22-22160299-T-C c.332A>G p.D111G Missense 3/9 - 1
22-22160299-TC-AT c.331_332delinsAT p.D111I Missense 3/9 - 1
22-22160299-TC-CA c.331_332delinsTG p.D111C Missense 3/9 - 1
22-22160299-TC-CG c.331_332delinsCG p.D111R Missense 3/9 - 1
22-22160299-TC-CT c.331_332delinsAG p.D111S Missense 3/9 - 1
22-22160299-TC-GG c.331_332delinsCC p.D111P Missense 3/9 - 1
22-22160299-TC-GT c.331_332delinsAC p.D111T Missense 3/9 - 1
22-22160299-T-G c.332A>C p.D111A Missense 3/9 - 1
22-22160300-C-A c.331G>T p.D111Y Missense 3/9 - 1
22-22160300-C-G c.331G>C p.D111H Missense 3/9 - 1
22-22160300-C-T c.331G>A p.D111N Missense 3/9 - 1
22-22160301-T-C c.330A>G p.T110= Synonymous 3/9 - 1
22-22160301-TG-CA c.329_330inv p.T110M Missense 3/9 - 1
22-22160301-TG-GT c.329_330delinsAC p.T110N Missense 3/9 - 1
22-22160301-TGT-ACA c.328_330inv p.T110C Missense 3/9 - 1
22-22160301-TGT-ATA c.328_330delinsTAT p.T110Y Missense 3/9 - 1
22-22160301-TGT-GTC c.328_330delinsGAC p.T110D Missense 3/9 - 1
22-22160302-G-A c.329C>T p.T110I Missense 3/9 - 1
22-22160302-G-C c.329C>G p.T110R Missense 3/9 - 1
22-22160302-G-T c.329C>A p.T110K Missense 3/9 - 1
22-22160302-GT-AG c.328_329delinsCT p.T110L Missense 3/9 - 1
22-22160302-GT-CC c.328_329delinsGG p.T110G Missense 3/9 - 1
22-22160302-GT-TC c.328_329delinsGA p.T110E Missense 3/9 - 1
22-22160303-T-A c.328A>T p.T110S Missense 3/9 - 1
22-22160303-T-C c.328A>G p.T110A Missense 3/9 - 1
22-22160303-T-G c.328A>C p.T110P Missense 3/9 - 1
22-22160304-T-A c.327A>T p.E109D Missense 3/9 - 1
22-22160304-T-G c.327A>C p.E109D Missense 3/9 - 1
22-22160304-TTC-ATA c.325_327delinsTAT p.E109Y Missense 3/9 - 1
22-22160304-TTC-ATG c.325_327delinsCAT p.E109H Missense 3/9 - 1
22-22160304-TTC-CAT c.325_327delinsATG p.E109M Missense 3/9 - 1
22-22160304-TTC-CCA c.325_327delinsTGG p.E109W Missense 3/9 - 1
22-22160304-TTC-GTT c.325_327delinsAAC p.E109N Missense 3/9 - 1
22-22160305-T-A c.326A>T p.E109V Missense 3/9 - 1
22-22160305-TC-AG c.325_326delinsCT p.E109L Missense 3/9 - 1
22-22160305-TC-AT c.325_326delinsAT p.E109I Missense 3/9 - 1
22-22160305-TC-GA c.325_326inv p.E109S Missense 3/9 - 1
22-22160305-TC-GT c.325_326delinsAC p.E109T Missense 3/9 - 1
22-22160306-C-G c.325G>C p.E109Q Missense 3/9 - 1
22-22160306-C-T c.325G>A p.E109K Missense 3/9 - 1
22-22160307-C-A c.324G>T p.M108I Missense 3/9 - 2
22-22160307-CA-GC c.323_324delinsGC p.M108S Missense 3/9 - 1
22-22160307-CAT-ACA c.322_324delinsTGT p.M108C Missense 3/9 - 1
22-22160307-CAT-ATA c.322_324delinsTAT p.M108Y Missense 3/9 - 1
22-22160307-CAT-ATG c.322_324inv p.M108H Missense 3/9 - 1
22-22160307-CAT-GTC c.322_324delinsGAC p.M108D Missense 3/9 - 1
22-22160307-C-G c.324G>C p.M108I Missense 3/9 - 2
22-22160307-C-T c.324G>A p.M108I Missense 3/9 - 2
22-22160308-A-C c.323T>G p.M108R Missense 3/9 - 1
22-22160308-A-G c.323T>C p.M108T Missense 3/9 - 1
22-22160308-A-T c.323T>A p.M108K Missense 3/9 - 1
22-22160308-AT-CA c.322_323delinsTG p.M108W Missense 3/9 - 1
22-22160308-AT-TC c.322_323delinsGA p.M108E Missense 3/9 - 1
22-22160309-T-A c.322A>T p.M108L Missense 3/9 - 2
22-22160309-T-G c.322A>C p.M108L Missense 3/9 - 2
22-22160310-G-A c.321C>T p.L107= Synonymous 3/9 - 1
22-22160310-GAG-CAT c.319_321delinsATG p.L107M Missense 3/9 - 1
22-22160310-GAG-CTC c.319_321inv p.L107E Missense 3/9 - 1
22-22160310-GAG-CTT c.319_321delinsAAG p.L107K Missense 3/9 - 1
22-22160310-GA-TT c.320_321delinsAA p.L107Q Missense 3/9 - 1
22-22160310-G-C c.321C>G p.L107= Synonymous 3/9 - 1
22-22160310-G-T c.321C>A p.L107= Synonymous 3/9 - 1
22-22160311-A-C c.320T>G p.L107R Missense 3/9 - 1
22-22160311-A-G c.320T>C p.L107P Missense 3/9 - 1
22-22160311-AG-CA c.319_320delinsTG p.L107C Missense 3/9 - 1
22-22160311-AG-GT c.319_320delinsAC p.L107T Missense 3/9 - 1
22-22160311-AG-TC c.319_320delinsGA p.L107D Missense 3/9 - 1
22-22160312-G-A c.319C>T p.L107F Missense 3/9 - 1
22-22160312-G-T c.319C>A p.L107I Missense 3/9 - 1
22-22160313-GTC-CAT c.316_318delinsATG p.D106M Missense 3/9 - 1
22-22160313-GTC-CTT c.316_318delinsAAG p.D106K Missense 3/9 - 1
22-22160313-GTC-TTG c.316_318delinsCAA p.D106Q Missense 3/9 - 1
22-22160314-T-A c.317A>T p.D106V Missense 3/9 - 1
22-22160314-T-C c.317A>G p.D106G Missense 3/9 - 1
22-22160314-TC-AA c.316_317delinsTT p.D106F Missense 3/9 - 1
22-22160314-TC-AG c.316_317delinsCT p.D106L Missense 3/9 - 1
22-22160314-TC-AT c.316_317delinsAT p.D106I Missense 3/9 - 1
22-22160314-TC-CA c.316_317delinsTG p.D106C Missense 3/9 - 1
22-22160314-TC-CT c.316_317delinsAG p.D106S Missense 3/9 - 1
22-22160314-TC-GG c.316_317delinsCC p.D106P Missense 3/9 - 1
22-22160314-TC-GT c.316_317delinsAC p.D106T Missense 3/9 - 1
22-22160314-T-G c.317A>C p.D106A Missense 3/9 - 1
22-22160315-C-A c.316G>T p.D106Y Missense 3/9 - 1
22-22160315-C-G c.316G>C p.D106H Missense 3/9 - 1
22-22160315-C-T c.316G>A p.D106N Missense 3/9 - 1
22-22160316-C-A c.315G>T p.Q105H Missense 3/9 - 1
22-22160316-C-G c.315G>C p.Q105H Missense 3/9 - 1
22-22160316-CTG-GTC c.313_315delinsGAC p.Q105D Missense 3/9 - 1
22-22160317-T-A c.314A>T p.Q105L Missense 3/9 - 1
22-22160317-T-C c.314A>G p.Q105R Missense 3/9 - 1
22-22160317-TG-AC c.313_314delinsGT p.Q105V Missense 3/9 - 1
22-22160317-TG-AT c.313_314delinsAT p.Q105M Missense 3/9 - 1
22-22160317-TG-CA c.313_314inv p.Q105W Missense 3/9 - 1
22-22160317-TG-CC c.313_314delinsGG p.Q105G Missense 3/9 - 1
22-22160317-TG-GA c.313_314delinsTC p.Q105S Missense 3/9 - 1
22-22160317-TG-GC c.313_314delinsGC p.Q105A Missense 3/9 - 2
22-22160318-G-C c.313C>G p.Q105E Missense 3/9 - 1
22-22160318-G-T c.313C>A p.Q105K Missense 3/9 - 1
22-22160319-TAC-AAA c.310_312delinsTTT p.V104F Missense 3/9 - 1
22-22160319-TAC-ACA c.310_312delinsTGT p.V104C Missense 3/9 - 1
22-22160319-TAC-GTT c.310_312delinsAAC p.V104N Missense 3/9 - 1
22-22160319-TA-GT c.311_312delinsAC p.V104D Missense 3/9 - 1
22-22160320-A-C c.311T>G p.V104G Missense 3/9 - 1
22-22160320-AC-GA c.310_311delinsTC p.V104S Missense 3/9 - 1
22-22160320-AC-GG c.310_311delinsCC p.V104P Missense 3/9 - 1
22-22160320-AC-GT c.310_311inv p.V104T Missense 3/9 - 1
22-22160320-AC-TT c.310_311delinsAA p.V104K Missense 3/9 - 1
22-22160320-A-T c.311T>A p.V104E Missense 3/9 - 1
22-22160321-C-A c.310G>T p.V104L Missense 3/9 - 1
22-22160321-C-G c.310G>C p.V104L Missense 3/9 - 1
22-22160321-C-T c.310G>A p.V104I Missense 3/9 - 1
22-22160322-TA-GC c.308_309delinsGC p.I103S Missense 3/9 - 1
22-22160322-TA-GT c.308_309delinsAC p.I103N Missense 3/9 - 1
22-22160322-TAT-AAA c.307_309delinsTTT p.I103F Missense 3/9 - 1
22-22160322-TAT-ACA c.307_309delinsTGT p.I103C Missense 3/9 - 1
22-22160322-TAT-ATA c.307_309inv p.I103Y Missense 3/9 - 1
22-22160322-TAT-ATG c.307_309delinsCAT p.I103H Missense 3/9 - 1
22-22160322-TAT-CCA c.307_309delinsTGG p.I103W Missense 3/9 - 1
22-22160322-TAT-GTC c.307_309delinsGAC p.I103D Missense 3/9 - 1
22-22160323-A-G c.308T>C p.I103T Missense 3/9 - 2
22-22160323-A-T c.308T>A p.I103K Missense 3/9 - 1
22-22160323-AT-CC c.307_308delinsGG p.I103G Missense 3/9 - 1
22-22160323-AT-GC c.307_308delinsGC p.I103A Missense 3/9 - 2
22-22160323-AT-TC c.307_308delinsGA p.I103E Missense 3/9 - 1
22-22160324-T-C c.307A>G p.I103V Missense 3/9 - 1
22-22160325-ATA-CTC c.304_306delinsGAG p.Y102E Missense 3/9 - 1
22-22160325-ATA-TTG c.304_306delinsCAA p.Y102Q Missense 3/9 - 1
22-22160325-AT-CC c.305_306delinsGG p.Y102W Missense 3/9 - 1
22-22160326-T-A c.305A>T p.Y102F Missense 3/9 - 1
22-22160326-TA-AG c.304_305delinsCT p.Y102L Missense 3/9 - 1
22-22160326-TA-AT c.304_305delinsAT p.Y102I Missense 3/9 - 1
22-22160326-TA-CC c.304_305delinsGG p.Y102G Missense 3/9 - 1
22-22160326-TA-GC c.304_305delinsGC p.Y102A Missense 3/9 - 1
22-22160326-TA-GG c.304_305delinsCC p.Y102P Missense 3/9 - 1
22-22160326-TA-GT c.304_305delinsAC p.Y102T Missense 3/9 - 1
22-22160326-T-C c.305A>G p.Y102C Missense 3/9 - 2
22-22160327-A-C c.304T>G p.Y102D Missense 3/9 - 1
22-22160327-A-T c.304T>A p.Y102N Missense 3/9 - 1
22-22161953-A-C c.302T>G p.V101G Missense 2/9 - 1
22-22161953-AC-GA c.301_302delinsTC p.V101S Missense 2/9 - 1
22-22161953-AC-TT c.301_302delinsAA p.V101K Missense 2/9 - 1
22-22161953-A-G c.302T>C p.V101A Missense 2/9 - 1
22-22161953-A-T c.302T>A p.V101E Missense 2/9 - 1
22-22161954-C-A c.301G>T p.V101L Missense 2/9 - 1
22-22161954-C-G c.301G>C p.V101L Missense 2/9 - 1
22-22161955-A-C c.300T>G p.D100E Missense 2/9 - 1
22-22161955-A-T c.300T>A p.D100E Missense 2/9 - 1
22-22161955-ATC-CTT c.298_300delinsAAG p.D100K Missense 2/9 - 1
22-22161955-ATC-TTG c.298_300delinsCAA p.D100Q Missense 2/9 - 1
22-22161956-T-A c.299A>T p.D100V Missense 2/9 - 1
22-22161956-TC-AA c.298_299delinsTT p.D100F Missense 2/9 - 1
22-22161956-TC-AT c.298_299delinsAT p.D100I Missense 2/9 - 1
22-22161956-TC-CA c.298_299delinsTG p.D100C Missense 2/9 - 1
22-22161956-TC-CG c.298_299delinsCG p.D100R Missense 2/9 - 1
22-22161956-TC-GG c.298_299delinsCC p.D100P Missense 2/9 - 1
22-22161956-TC-GT c.298_299delinsAC p.D100T Missense 2/9 - 1
22-22161956-T-G c.299A>C p.D100A Missense 2/9 - 1
22-22161957-C-A c.298G>T p.D100Y Missense 2/9 - 1
22-22161957-C-G c.298G>C p.D100H Missense 2/9 - 1
22-22161957-C-T c.298G>A p.D100N Missense 2/9 - 1
22-22161958-T-A c.297A>T p.K99N Missense 2/9 - 1
22-22161958-T-G c.297A>C p.K99N Missense 2/9 - 1
22-22161958-TT-CA c.296_297delinsTG p.K99M Missense 2/9 - 1
22-22161958-TT-GC c.296_297delinsGC p.K99S Missense 2/9 - 1
22-22161959-T-A c.296A>T p.K99I Missense 2/9 - 1
22-22161959-T-C c.296A>G p.K99R Missense 2/9 - 1
22-22161959-T-G c.296A>C p.K99T Missense 2/9 - 1
22-22161960-T-C c.295A>G p.K99E Missense 2/9 - 1
22-22161960-T-G c.295A>C p.K99Q Missense 2/9 - 1
22-22161961-C-A c.294G>T p.M98I Missense 2/9 - 1
22-22161961-CA-GC c.293_294delinsGC p.M98S Missense 2/9 - 1
22-22161961-CAT-ACA c.292_294delinsTGT p.M98C Missense 2/9 - 1
22-22161961-CAT-GTC c.292_294delinsGAC p.M98D Missense 2/9 - 1
22-22161961-C-G c.294G>C p.M98I Missense 2/9 - 1
22-22161961-C-T c.294G>A p.M98I Missense 2/9 - 1
22-22161962-A-C c.293T>G p.M98R Missense 2/9 - 1
22-22161962-A-T c.293T>A p.M98K Missense 2/9 - 2
22-22161962-AT-CA c.292_293delinsTG p.M98W Missense 2/9 - 1
22-22161962-AT-GC c.292_293delinsGC p.M98A Missense 2/9 - 1
22-22161962-AT-GG c.292_293delinsCC p.M98P Missense 2/9 - 1
22-22161962-AT-TC c.292_293delinsGA p.M98E Missense 2/9 - 1
22-22161962-AT-TG c.292_293delinsCA p.M98Q Missense 2/9 - 1
22-22161963-T-A c.292A>T p.M98L Missense 2/9 - 1
22-22161963-T-C c.292A>G p.M98V Missense 2/9 - 1
22-22161963-T-G c.292A>C p.M98L Missense 2/9 - 1
22-22161964-T-A c.291A>T p.Q97H Missense 2/9 - 1
22-22161964-T-G c.291A>C p.Q97H Missense 2/9 - 1
22-22161964-TTG-ACA c.289_291delinsTGT p.Q97C Missense 2/9 - 1
22-22161964-TTG-CAT c.289_291delinsATG p.Q97M Missense 2/9 - 1
22-22161964-TTG-CCA c.289_291delinsTGG p.Q97W Missense 2/9 - 1
22-22161964-TTG-GTC c.289_291delinsGAC p.Q97D Missense 2/9 - 1
22-22161964-TTG-GTT c.289_291delinsAAC p.Q97N Missense 2/9 - 1
22-22161965-T-A c.290A>T p.Q97L Missense 2/9 - 1
22-22161965-T-C c.290A>G p.Q97R Missense 2/9 - 1
22-22161965-T-G c.290A>C p.Q97P Missense 2/9 - 1
22-22161965-TG-AC c.289_290delinsGT p.Q97V Missense 2/9 - 1
22-22161965-TG-GA c.289_290delinsTC p.Q97S Missense 2/9 - 1
22-22161965-TG-GT c.289_290delinsAC p.Q97T Missense 2/9 - 1
22-22161966-G-C c.289C>G p.Q97E Missense 2/9 - 1
22-22161966-G-T c.289C>A p.Q97K Missense 2/9 - 1
22-22161967-C-A c.288G>T p.E96D Missense 2/9 - 1
22-22161967-C-G c.288G>C p.E96D Missense 2/9 - 1
22-22161967-CTC-GAT c.286_288delinsATC p.E96I Missense 2/9 - 1
22-22161967-CTC-GTT c.286_288delinsAAC p.E96N Missense 2/9 - 1
22-22161968-T-A c.287A>T p.E96V Missense 2/9 - 1
22-22161968-TC-AG c.286_287delinsCT p.E96L Missense 2/9 - 1
22-22161968-TC-CA c.286_287delinsTG p.E96W Missense 2/9 - 1
22-22161968-TC-CT c.286_287delinsAG p.E96R Missense 2/9 - 1
22-22161968-TC-GT c.286_287delinsAC p.E96T Missense 2/9 - 1
22-22161968-T-G c.287A>C p.E96A Missense 2/9 - 1
22-22161969-C-G c.286G>C p.E96Q Missense 2/9 - 1
22-22161969-C-T c.286G>A p.E96K Missense 2/9 - 1
22-22161970-GA-CC c.284_285delinsGG p.I95R Missense 2/9 - 1
22-22161970-GAT-TTG c.283_285delinsCAA p.I95Q Missense 2/9 - 1
22-22161970-G-C c.285C>G p.I95M Missense 2/9 - 1
22-22161971-A-C c.284T>G p.I95S Missense 2/9 - 1
22-22161971-A-G c.284T>C p.I95T Missense 2/9 - 1
22-22161971-A-T c.284T>A p.I95N Missense 2/9 - 1
22-22161971-AT-CA c.283_284delinsTG p.I95C Missense 2/9 - 1
22-22161971-AT-GC c.283_284delinsGC p.I95A Missense 2/9 - 1
22-22161971-AT-TA c.283_284delinsTA p.I95Y Missense 2/9 - 1
22-22161972-T-A c.283A>T p.I95F Missense 2/9 - 1
22-22161972-T-C c.283A>G p.I95V Missense 2/9 - 1
22-22161973-GG-CA c.281_282delinsTG p.T94M Missense 2/9 - 1
22-22161973-GGT-TTG c.280_282delinsCAA p.T94Q Missense 2/9 - 1
22-22161974-G-A c.281C>T p.T94I Missense 2/9 - 1
22-22161974-G-C c.281C>G p.T94S Missense 2/9 - 1
22-22161974-G-T c.281C>A p.T94N Missense 2/9 - 1
22-22161974-GT-AC c.280_281inv p.T94V Missense 2/9 - 1
22-22161974-GT-CA c.280_281delinsTG p.T94C Missense 2/9 - 1
22-22161974-GT-TC c.280_281delinsGA p.T94D Missense 2/9 - 1
22-22161974-GT-TG c.280_281delinsCA p.T94H Missense 2/9 - 1
22-22161975-T-A c.280A>T p.T94S Missense 2/9 - 1
22-22161975-T-C c.280A>G p.T94A Missense 2/9 - 2
22-22161975-T-G c.280A>C p.T94P Missense 2/9 - 1
22-22161976-TG-AT c.278_279delinsAT p.P93H Missense 2/9 - 1
22-22161976-TGG-AAA c.277_279delinsTTT p.P93F Missense 2/9 - 1
22-22161976-TGG-ATA c.277_279delinsTAT p.P93Y Missense 2/9 - 1
22-22161976-TGG-CAT c.277_279delinsATG p.P93M Missense 2/9 - 1
22-22161976-TGG-GTC c.277_279delinsGAC p.P93D Missense 2/9 - 1
22-22161977-G-A c.278C>T p.P93L Missense 2/9 - 1
22-22161977-G-T c.278C>A p.P93Q Missense 2/9 - 1
22-22161978-G-A c.277C>T p.P93S Missense 2/9 - 1
22-22161978-G-T c.277C>A p.P93T Missense 2/9 - 1
22-22161979-TGC-AAA c.274_276delinsTTT p.A92F Missense 2/9 - 1
22-22161979-TGC-ACA c.274_276delinsTGT p.A92C Missense 2/9 - 1
22-22161979-TGC-CAT c.274_276delinsATG p.A92M Missense 2/9 - 1
22-22161979-TGC-CCA c.274_276delinsTGG p.A92W Missense 2/9 - 1
22-22161979-TGC-GTT c.274_276delinsAAC p.A92N Missense 2/9 - 1
22-22161979-TG-GT c.275_276delinsAC p.A92D Missense 2/9 - 1
22-22161980-G-A c.275C>T p.A92V Missense 2/9 - 1
22-22161980-G-C c.275C>G p.A92G Missense 2/9 - 1
22-22161980-GC-AG c.274_275delinsCT p.A92L Missense 2/9 - 1
22-22161980-GC-AT c.274_275delinsAT p.A92I Missense 2/9 - 1
22-22161980-GC-TT c.274_275delinsAA p.A92K Missense 2/9 - 1
22-22161980-G-T c.275C>A p.A92E Missense 2/9 - 2
22-22161981-C-A c.274G>T p.A92S Missense 2/9 - 1
22-22161981-C-G c.274G>C p.A92P Missense 2/9 - 1
22-22161981-C-T c.274G>A p.A92T Missense 2/9 - 1
22-22161982-TC-AT c.272_273delinsAT p.R91H Missense 2/9 - 1
22-22161982-TCG-AAA c.271_273delinsTTT p.R91F Missense 2/9 - 1
22-22161982-TCG-ACA c.271_273delinsTGT p.R91C Missense 2/9 - 1
22-22161982-TCG-CAT c.271_273delinsATG p.R91M Missense 2/9 - 1
22-22161982-TCG-GCT c.271_273delinsAGC p.R91S Missense 2/9 - 1
22-22161982-TCG-GTC c.271_273delinsGAC p.R91D Missense 2/9 - 1
22-22161982-TCG-GTT c.271_273delinsAAC p.R91N Missense 2/9 - 1
22-22161983-C-A c.272G>T p.R91L Missense 2/9 - 1
22-22161983-C-G c.272G>C p.R91P Missense 2/9 - 1
22-22161984-G-C c.271C>G p.R91G Missense 2/9 - 1
22-22161985-AA-CC c.269_270delinsGG p.I90R Missense 2/9 - 1
22-22161985-AA-CT c.269_270delinsAG p.I90K Missense 2/9 - 1
22-22161985-AAT-CCA c.268_270delinsTGG p.I90W Missense 2/9 - 1
22-22161985-AAT-CTC c.268_270delinsGAG p.I90E Missense 2/9 - 1
22-22161985-AAT-TTG c.268_270delinsCAA p.I90Q Missense 2/9 - 1
22-22161986-A-C c.269T>G p.I90S Missense 2/9 - 1
22-22161986-A-G c.269T>C p.I90T Missense 2/9 - 1
22-22161986-A-T c.269T>A p.I90N Missense 2/9 - 1
22-22161986-AT-CA c.268_269delinsTG p.I90C Missense 2/9 - 1
22-22161986-AT-GC c.268_269delinsGC p.I90A Missense 2/9 - 1
22-22161986-AT-TC c.268_269delinsGA p.I90D Missense 2/9 - 1
22-22161986-AT-TG c.268_269delinsCA p.I90H Missense 2/9 - 1
22-22161987-T-A c.268A>T p.I90F Missense 2/9 - 1
22-22161987-T-C c.268A>G p.I90V Missense 2/9 - 1
22-22161988-AA-CT c.266_267delinsAG p.I89K Missense 2/9 - 1
22-22161988-AAT-CCA c.265_267delinsTGG p.I89W Missense 2/9 - 1
22-22161988-A-C c.267T>G p.I89M Missense 2/9 - 1
22-22161989-A-C c.266T>G p.I89S Missense 2/9 - 1
22-22161989-A-G c.266T>C p.I89T Missense 2/9 - 1
22-22161989-A-T c.266T>A p.I89N Missense 2/9 - 1
22-22161989-AT-CA c.265_266delinsTG p.I89C Missense 2/9 - 1
22-22161989-AT-CC c.265_266delinsGG p.I89G Missense 2/9 - 1
22-22161989-AT-GC c.265_266delinsGC p.I89A Missense 2/9 - 1
22-22161989-AT-GG c.265_266delinsCC p.I89P Missense 2/9 - 1
22-22161989-AT-TA c.265_266delinsTA p.I89Y Missense 2/9 - 1
22-22161989-AT-TC c.265_266delinsGA p.I89D Missense 2/9 - 1
22-22161990-T-A c.265A>T p.I89F Missense 2/9 - 1
22-22161991-G-C c.264C>G p.D88E Missense 2/9 - 1
22-22161991-G-T c.264C>A p.D88E Missense 2/9 - 1
22-22161991-GTC-CCA c.262_264delinsTGG p.D88W Missense 2/9 - 1
22-22161992-T-A c.263A>T p.D88V Missense 2/9 - 1
22-22161992-TC-CG c.262_263delinsCG p.D88R Missense 2/9 - 1
22-22161992-TC-CT c.262_263delinsAG p.D88S Missense 2/9 - 1
22-22161992-TC-GT c.262_263delinsAC p.D88T Missense 2/9 - 1
22-22161992-T-G c.263A>C p.D88A Missense 2/9 - 1
22-22161994-A-C c.261T>G p.N87K Missense 2/9 - 1
22-22161994-A-T c.261T>A p.N87K Missense 2/9 - 1
22-22161994-ATT-CCA c.259_261delinsTGG p.N87W Missense 2/9 - 1
22-22161994-ATT-CTC c.259_261delinsGAG p.N87E Missense 2/9 - 1
22-22161995-T-A c.260A>T p.N87I Missense 2/9 - 1
22-22161995-TT-CC c.259_260delinsGG p.N87G Missense 2/9 - 2
22-22161996-T-A c.259A>T p.N87Y Missense 2/9 - 1
22-22161996-T-C c.259A>G p.N87D Missense 2/9 - 1
22-22161996-T-G c.259A>C p.N87H Missense 2/9 - 1
22-22161997-GA-CC c.257_258delinsGG p.I86R Missense 2/9 - 1
22-22161997-GAT-TTG c.256_258delinsCAA p.I86Q Missense 2/9 - 1
22-22161997-G-C c.258C>G p.I86M Missense 2/9 - 2
22-22161998-A-C c.257T>G p.I86S Missense 2/9 - 1
22-22161998-A-T c.257T>A p.I86N Missense 2/9 - 1
22-22161998-AT-CC c.256_257delinsGG p.I86G Missense 2/9 - 1
22-22161998-AT-GC c.256_257delinsGC p.I86A Missense 2/9 - 1
22-22161998-AT-GG c.256_257delinsCC p.I86P Missense 2/9 - 1
22-22161998-AT-TA c.256_257delinsTA p.I86Y Missense 2/9 - 1
22-22161998-AT-TC c.256_257delinsGA p.I86D Missense 2/9 - 1
22-22161999-T-A c.256A>T p.I86F Missense 2/9 - 1
22-22161999-T-G c.256A>C p.I86L Missense 2/9 - 1
22-22162000-TCC-AAA c.253_255delinsTTT p.G85F Missense 2/9 - 1
22-22162000-TCC-ACA c.253_255delinsTGT p.G85C Missense 2/9 - 1
22-22162000-TCC-ATG c.253_255delinsCAT p.G85H Missense 2/9 - 1
22-22162000-TCC-CAT c.253_255delinsATG p.G85M Missense 2/9 - 1
22-22162000-TCC-GCT c.253_255delinsAGC p.G85S Missense 2/9 - 1
22-22162000-TC-GT c.254_255delinsAC p.G85D Missense 2/9 - 1
22-22162001-C-A c.254G>T p.G85V Missense 2/9 - 1
22-22162001-CC-AT c.253_254delinsAT p.G85I Missense 2/9 - 1
22-22162001-CC-GT c.253_254delinsAC p.G85T Missense 2/9 - 1
22-22162001-CC-TG c.253_254delinsCA p.G85Q Missense 2/9 - 1
22-22162001-C-T c.254G>A p.G85E Missense 2/9 - 1
22-22162002-C-G c.253G>C p.G85R Missense 2/9 - 5
22-22162002-C-T c.253G>A p.G85R Missense 2/9 - 5
22-22162003-AA-CT c.251_252delinsAG p.I84K Missense 2/9 - 1
22-22162003-AAT-TTG c.250_252delinsCAA p.I84Q Missense 2/9 - 1
22-22162003-A-C c.252T>G p.I84M Missense 2/9 - 1
22-22162004-A-T c.251T>A p.I84N Missense 2/9 - 2
22-22162004-AT-GC c.250_251delinsGC p.I84A Missense 2/9 - 6
22-22162004-AT-GG c.250_251delinsCC p.I84P Missense 2/9 - 1
22-22162004-AT-TC c.250_251delinsGA p.I84D Missense 2/9 - 1
22-22162004-AT-TG c.250_251delinsCA p.I84H Missense 2/9 - 1
22-22162005-T-A c.250A>T p.I84F Missense 2/9 - 1
22-22162005-T-C c.250A>G p.I84V Missense 2/9 - 1
22-22162006-GA-CC c.248_249delinsGG p.I83R Missense 2/9 - 1
22-22162006-GA-CT c.248_249delinsAG p.I83K Missense 2/9 - 1
22-22162006-GAT-CCA c.247_249delinsTGG p.I83W Missense 2/9 - 1
22-22162006-GAT-TTG c.247_249delinsCAA p.I83Q Missense 2/9 - 1
22-22162006-G-C c.249C>G p.I83M Missense 2/9 - 1
22-22162007-A-C c.248T>G p.I83S Missense 2/9 - 1
22-22162007-A-T c.248T>A p.I83N Missense 2/9 - 1
22-22162007-AT-CA c.247_248delinsTG p.I83C Missense 2/9 - 1
22-22162007-AT-CC c.247_248delinsGG p.I83G Missense 2/9 - 1
22-22162007-AT-GC c.247_248delinsGC p.I83A Missense 2/9 - 1
22-22162007-AT-GG c.247_248delinsCC p.I83P Missense 2/9 - 1
22-22162007-AT-TA c.247_248delinsTA p.I83Y Missense 2/9 - 1
22-22162007-AT-TC c.247_248delinsGA p.I83D Missense 2/9 - 1
22-22162007-AT-TG c.247_248delinsCA p.I83H Missense 2/9 - 1
22-22162008-T-A c.247A>T p.I83F Missense 2/9 - 1
22-22162008-T-C c.247A>G p.I83V Missense 2/9 - 1
22-22162008-T-G c.247A>C p.I83L Missense 2/9 - 1
22-22162009-G-C c.246C>G p.N82K Missense 2/9 - 1
22-22162009-G-T c.246C>A p.N82K Missense 2/9 - 1
22-22162009-GT-CA c.245_246delinsTG p.N82M Missense 2/9 - 1
22-22162009-GT-CC c.245_246delinsGG p.N82R Missense 2/9 - 1
22-22162009-GTT-CTC c.244_246delinsGAG p.N82E Missense 2/9 - 1
22-22162010-T-A c.245A>T p.N82I Missense 2/9 - 1
22-22162010-T-C c.245A>G p.N82S Missense 2/9 - 1
22-22162010-T-G c.245A>C p.N82T Missense 2/9 - 1
22-22162010-TT-AA c.244_245inv p.N82F Missense 2/9 - 1
22-22162010-TT-CA c.244_245delinsTG p.N82C Missense 2/9 - 1
22-22162010-TT-CC c.244_245delinsGG p.N82G Missense 2/9 - 1
22-22162010-TT-GG c.244_245delinsCC p.N82P Missense 2/9 - 1
22-22162011-T-A c.244A>T p.N82Y Missense 2/9 - 1
22-22162011-T-G c.244A>C p.N82H Missense 2/9 - 1
22-22162012-C-A c.243G>T p.E81D Missense 2/9 - 2
22-22162012-C-G c.243G>C p.E81D Missense 2/9 - 2
22-22162012-CTC-ACA c.241_243delinsTGT p.E81C Missense 2/9 - 1
22-22162013-T-A c.242A>T p.E81V Missense 2/9 - 1
22-22162013-TC-CA c.241_242delinsTG p.E81W Missense 2/9 - 1
22-22162013-TC-GG c.241_242delinsCC p.E81P Missense 2/9 - 1
22-22162013-T-G c.242A>C p.E81A Missense 2/9 - 1
22-22162014-C-G c.241G>C p.E81Q Missense 2/9 - 1
22-22162014-C-T c.241G>A p.E81K Missense 2/9 - 9
22-22162015-A-C c.240T>G p.H80Q Missense 2/9 - 1
22-22162015-A-T c.240T>A p.H80Q Missense 2/9 - 1
22-22162015-ATG-CAT c.238_240inv p.H80M Missense 2/9 - 1
22-22162016-T-A c.239A>T p.H80L Missense 2/9 - 1
22-22162016-T-C c.239A>G p.H80R Missense 2/9 - 2
22-22162016-T-G c.239A>C p.H80P Missense 2/9 - 1
22-22162016-TG-AA c.238_239delinsTT p.H80F Missense 2/9 - 1
22-22162016-TG-AC c.238_239delinsGT p.H80V Missense 2/9 - 1
22-22162016-TG-AT c.238_239delinsAT p.H80I Missense 2/9 - 1
22-22162016-TG-CA c.238_239inv p.H80C Missense 2/9 - 1
22-22162016-TG-CC c.238_239delinsGG p.H80G Missense 2/9 - 1
22-22162016-TG-GT c.238_239delinsAC p.H80T Missense 2/9 - 1
22-22162017-G-A c.238C>T p.H80Y Missense 2/9 - 2
22-22162017-G-T c.238C>A p.H80N Missense 2/9 - 1
22-22162018-T-A c.237A>T p.R79S Missense 2/9 - 1
22-22162018-TC-CA c.236_237delinsTG p.R79M Missense 2/9 - 1
22-22162018-TCT-ACA c.235_237delinsTGT p.R79C Missense 2/9 - 1
22-22162018-TCT-GTC c.235_237delinsGAC p.R79D Missense 2/9 - 1
22-22162018-T-G c.237A>C p.R79S Missense 2/9 - 1
22-22162019-C-A c.236G>T p.R79I Missense 2/9 - 1
22-22162019-C-G c.236G>C p.R79T Missense 2/9 - 1
22-22162019-C-T c.236G>A p.R79K Missense 2/9 - 2
22-22162019-CT-AC c.235_236delinsGT p.R79V Missense 2/9 - 1
22-22162019-CT-AG c.235_236inv p.R79L Missense 2/9 - 1
22-22162019-CT-GG c.235_236delinsCC p.R79P Missense 2/9 - 1
22-22162019-CT-TC c.235_236delinsGA p.R79E Missense 2/9 - 1
22-22162019-CT-TG c.235_236delinsCA p.R79Q Missense 2/9 - 1
22-22162020-T-C c.235A>G p.R79G Missense 2/9 - 1
22-22162021-GAA-CAT c.232_234delinsATG p.F78M Missense 2/9 - 1
22-22162021-GAA-CTT c.232_234delinsAAG p.F78K Missense 2/9 - 1
22-22162021-GAA-TTG c.232_234delinsCAA p.F78Q Missense 2/9 - 1
22-22162021-GA-CC c.233_234delinsGG p.F78W Missense 2/9 - 1
22-22162022-AA-GC c.232_233delinsGC p.F78A Missense 2/9 - 1
22-22162022-AA-TG c.232_233delinsCA p.F78H Missense 2/9 - 1
22-22162022-AA-TT c.232_233inv p.F78N Missense 2/9 - 1
22-22162022-A-G c.233T>C p.F78S Missense 2/9 - 1
22-22162022-A-T c.233T>A p.F78Y Missense 2/9 - 1
22-22162021-G-C c.234C>G p.F78L Missense 2/9 - 1
22-22162021-G-T c.234C>A p.F78L Missense 2/9 - 1
22-22162023-A-C c.232T>G p.F78V Missense 2/9 - 1
22-22162023-A-G c.232T>C p.F78L Missense 2/9 - 1
22-22162023-A-T c.232T>A p.F78I Missense 2/9 - 1
22-22162024-GCG-CAT c.229_231delinsATG p.R77M Missense 2/9 - 1
22-22162024-GCG-CCA c.229_231delinsTGG p.R77W Missense 2/9 - 1
22-22162024-GCG-CTT c.229_231delinsAAG p.R77K Missense 2/9 - 2
22-22162024-GC-TT c.230_231delinsAA p.R77Q Missense 2/9 - 1
22-22162025-C-A c.230G>T p.R77L Missense 2/9 - 1
22-22162025-C-G c.230G>C p.R77P Missense 2/9 - 1
22-22162025-CG-AA c.229_230delinsTT p.R77F Missense 2/9 - 1
22-22162025-CG-AT c.229_230delinsAT p.R77I Missense 2/9 - 1
22-22162025-CG-GT c.229_230delinsAC p.R77T Missense 2/9 - 1
22-22162025-CG-TA c.229_230delinsTA p.R77Y Missense 2/9 - 1
22-22162025-CG-TC c.229_230delinsGA p.R77D Missense 2/9 - 1
22-22162025-CG-TT c.229_230delinsAA p.R77N Missense 2/9 - 1
22-22162025-C-T c.230G>A p.R77H Missense 2/9 - 1
22-22162026-G-A c.229C>T p.R77C Missense 2/9 - 2
22-22162026-G-C c.229C>G p.R77G Missense 2/9 - 1
22-22162026-G-T c.229C>A p.R77S Missense 2/9 - 2
22-22162027-CA-AT c.227_228delinsAT p.L76H Missense 2/9 - 1
22-22162027-CAG-AAA c.226_228delinsTTT p.L76F Missense 2/9 - 1
22-22162027-CAG-ACA c.226_228delinsTGT p.L76C Missense 2/9 - 1
22-22162027-CAG-ATA c.226_228delinsTAT p.L76Y Missense 2/9 - 1
22-22162027-CAG-GTC c.226_228delinsGAC p.L76D Missense 2/9 - 1
22-22162027-CAG-GTT c.226_228delinsAAC p.L76N Missense 2/9 - 1
22-22162028-A-C c.227T>G p.L76R Missense 2/9 - 1
22-22162028-A-G c.227T>C p.L76P Missense 2/9 - 1
22-22162028-AG-CA c.226_227delinsTG p.L76W Missense 2/9 - 1
22-22162028-AG-CC c.226_227delinsGG p.L76G Missense 2/9 - 1
22-22162028-AG-GA c.226_227delinsTC p.L76S Missense 2/9 - 1
22-22162028-AG-GC c.226_227delinsGC p.L76A Missense 2/9 - 1
22-22162028-AG-GT c.226_227delinsAC p.L76T Missense 2/9 - 1
22-22162028-AG-TC c.226_227delinsGA p.L76E Missense 2/9 - 1
22-22162028-AG-TT c.226_227delinsAA p.L76K Missense 2/9 - 1
22-22162028-A-T c.227T>A p.L76Q Missense 2/9 - 1
22-22162029-G-C c.226C>G p.L76V Missense 2/9 - 1
22-22162029-G-T c.226C>A p.L76M Missense 2/9 - 1
22-22162030-T-A c.225A>T p.L75F Missense 2/9 - 1
22-22162030-TAA-ATG c.223_225delinsCAT p.L75H Missense 2/9 - 1
22-22162030-TA-AC c.224_225delinsGT p.L75C Missense 2/9 - 1
22-22162030-TAA-CAT c.223_225delinsATG p.L75M Missense 2/9 - 1
22-22162030-TAA-GTC c.223_225delinsGAC p.L75D Missense 2/9 - 1
22-22162030-TAA-GTT c.223_225delinsAAC p.L75N Missense 2/9 - 1
22-22162030-TA-AT c.224_225delinsAT p.L75Y Missense 2/9 - 1
22-22162030-TA-CC c.224_225delinsGG p.L75W Missense 2/9 - 1
22-22162030-T-G c.225A>C p.L75F Missense 2/9 - 1
22-22162031-AA-CC c.223_224delinsGG p.L75G Missense 2/9 - 1
22-22162031-AA-CT c.223_224delinsAG p.L75R Missense 2/9 - 1
22-22162031-AA-GC c.223_224delinsGC p.L75A Missense 2/9 - 1
22-22162031-AA-GG c.223_224delinsCC p.L75P Missense 2/9 - 1
22-22162031-AA-GT c.223_224delinsAC p.L75T Missense 2/9 - 1
22-22162031-AA-TG c.223_224delinsCA p.L75Q Missense 2/9 - 1
22-22162031-AA-TT c.223_224inv p.L75K Missense 2/9 - 1
22-22162031-A-G c.224T>C p.L75S Missense 2/9 - 1
22-22162032-A-T c.223T>A p.L75I Missense 2/9 - 1
22-22162033-GA-CC c.221_222delinsGG p.I74R Missense 2/9 - 1
22-22162033-GA-CT c.221_222delinsAG p.I74K Missense 2/9 - 1
22-22162033-GAT-CTC c.220_222delinsGAG p.I74E Missense 2/9 - 1
22-22162033-GAT-TTG c.220_222delinsCAA p.I74Q Missense 2/9 - 1
22-22162034-A-C c.221T>G p.I74S Missense 2/9 - 1
22-22162034-A-G c.221T>C p.I74T Missense 2/9 - 1
22-22162034-A-T c.221T>A p.I74N Missense 2/9 - 2
22-22162034-AT-CA c.220_221delinsTG p.I74C Missense 2/9 - 1
22-22162034-AT-CC c.220_221delinsGG p.I74G Missense 2/9 - 1
22-22162034-AT-GC c.220_221delinsGC p.I74A Missense 2/9 - 1
22-22162034-AT-GG c.220_221delinsCC p.I74P Missense 2/9 - 1
22-22162034-AT-TA c.220_221delinsTA p.I74Y Missense 2/9 - 1
22-22162034-AT-TC c.220_221delinsGA p.I74D Missense 2/9 - 1
22-22162034-AT-TG c.220_221delinsCA p.I74H Missense 2/9 - 1
22-22162035-T-A c.220A>T p.I74F Missense 2/9 - 1
22-22162035-T-C c.220A>G p.I74V Missense 2/9 - 1
22-22162035-T-G c.220A>C p.I74L Missense 2/9 - 1
22-22162036-T-A c.219A>T p.K73N Missense 2/9 - 1
22-22162036-T-G c.219A>C p.K73N Missense 2/9 - 1
22-22162036-TTT-ACA c.217_219delinsTGT p.K73C Missense 2/9 - 1
22-22162036-TTT-ATG c.217_219delinsCAT p.K73H Missense 2/9 - 1
22-22162036-TTT-CCA c.217_219delinsTGG p.K73W Missense 2/9 - 1
22-22162036-TTT-GTC c.217_219delinsGAC p.K73D Missense 2/9 - 1
22-22162037-T-A c.218A>T p.K73I Missense 2/9 - 1
22-22162037-T-C c.218A>G p.K73R Missense 2/9 - 1
22-22162037-TT-GG c.217_218delinsCC p.K73P Missense 2/9 - 2
22-22162039-TA-GC c.215_216delinsGC p.I72S Missense 2/9 - 1
22-22162039-TA-GT c.215_216delinsAC p.I72N Missense 2/9 - 1
22-22162039-TAT-AAA c.214_216delinsTTT p.I72F Missense 2/9 - 1
22-22162039-TAT-ATA c.214_216inv p.I72Y Missense 2/9 - 1
22-22162039-TAT-ATG c.214_216delinsCAT p.I72H Missense 2/9 - 1
22-22162039-TAT-CCA c.214_216delinsTGG p.I72W Missense 2/9 - 1
22-22162039-TAT-GTC c.214_216delinsGAC p.I72D Missense 2/9 - 1
22-22162039-T-C c.216A>G p.I72M Missense 2/9 - 1
22-22162040-A-G c.215T>C p.I72T Missense 2/9 - 1
22-22162040-A-T c.215T>A p.I72K Missense 2/9 - 1
22-22162040-AT-CC c.214_215delinsGG p.I72G Missense 2/9 - 1
22-22162040-AT-GC c.214_215delinsGC p.I72A Missense 2/9 - 1
22-22162040-AT-GG c.214_215delinsCC p.I72P Missense 2/9 - 1
22-22162040-AT-TG c.214_215delinsCA p.I72Q Missense 2/9 - 1
22-22162041-T-A c.214A>T p.I72L Missense 2/9 - 1
22-22162041-T-C c.214A>G p.I72V Missense 2/9 - 1
22-22162041-T-G c.214A>C p.I72L Missense 2/9 - 1
22-22162042-C-A c.213G>T p.E71D Missense 2/9 - 1
22-22162042-C-G c.213G>C p.E71D Missense 2/9 - 1
22-22162042-CTC-AAA c.211_213delinsTTT p.E71F Missense 2/9 - 1
22-22162042-CTC-ACA c.211_213delinsTGT p.E71C Missense 2/9 - 1
22-22162042-CTC-ATG c.211_213delinsCAT p.E71H Missense 2/9 - 1
22-22162042-CTC-GAT c.211_213delinsATC p.E71I Missense 2/9 - 1
22-22162042-CTC-GTT c.211_213delinsAAC p.E71N Missense 2/9 - 1
22-22162043-T-A c.212A>T p.E71V Missense 2/9 - 1
22-22162043-TC-AG c.211_212delinsCT p.E71L Missense 2/9 - 1
22-22162043-TC-AT c.211_212delinsAT p.E71M Missense 2/9 - 1
22-22162043-TC-CA c.211_212delinsTG p.E71W Missense 2/9 - 1
22-22162043-TC-CT c.211_212delinsAG p.E71R Missense 2/9 - 1
22-22162043-TC-GG c.211_212delinsCC p.E71P Missense 2/9 - 1
22-22162043-TC-GT c.211_212delinsAC p.E71T Missense 2/9 - 1
22-22162044-C-G c.211G>C p.E71Q Missense 2/9 - 1
22-22162044-C-T c.211G>A p.E71K Missense 2/9 - 1
22-22162045-C-A c.210G>T p.R70S Missense 2/9 - 1
22-22162045-CC-GA c.209_210delinsTC p.R70I Missense 2/9 - 1
22-22162045-CC-GT c.209_210delinsAC p.R70N Missense 2/9 - 1
22-22162045-CCT-AAA c.208_210delinsTTT p.R70F Missense 2/9 - 1
22-22162045-CCT-ACA c.208_210delinsTGT p.R70C Missense 2/9 - 1
22-22162045-CCT-ATA c.208_210delinsTAT p.R70Y Missense 2/9 - 1
22-22162045-CCT-ATG c.208_210delinsCAT p.R70H Missense 2/9 - 1
22-22162045-CCT-GTC c.208_210delinsGAC p.R70D Missense 2/9 - 1
22-22162045-C-G c.210G>C p.R70S Missense 2/9 - 1
22-22162046-C-T c.209G>A p.R70K Missense 2/9 - 1
22-22162046-CT-AG c.208_209inv p.R70L Missense 2/9 - 1
22-22162046-CT-GC c.208_209delinsGC p.R70A Missense 2/9 - 2
22-22162046-CT-GG c.208_209delinsCC p.R70P Missense 2/9 - 1
22-22162046-CT-TC c.208_209delinsGA p.R70E Missense 2/9 - 1
22-22162046-CT-TG c.208_209delinsCA p.R70Q Missense 2/9 - 1
22-22162047-T-C c.208A>G p.R70G Missense 2/9 - 1
22-22162048-CA-AT c.206_207delinsAT p.L69H Missense 2/9 - 1
22-22162048-CAG-AAA c.205_207delinsTTT p.L69F Missense 2/9 - 1
22-22162048-CAG-ACA c.205_207delinsTGT p.L69C Missense 2/9 - 1
22-22162048-CAG-GAT c.205_207delinsATC p.L69I Missense 2/9 - 1
22-22162048-CAG-GTT c.205_207delinsAAC p.L69N Missense 2/9 - 1
22-22162049-A-C c.206T>G p.L69R Missense 2/9 - 1
22-22162049-AG-CC c.205_206delinsGG p.L69G Missense 2/9 - 1
22-22162049-AG-GC c.205_206delinsGC p.L69A Missense 2/9 - 2
22-22162049-AG-GT c.205_206delinsAC p.L69T Missense 2/9 - 1
22-22162049-AG-TT c.205_206delinsAA p.L69K Missense 2/9 - 1
22-22162049-A-T c.206T>A p.L69Q Missense 2/9 - 1
22-22162050-G-C c.205C>G p.L69V Missense 2/9 - 1
22-22162050-G-T c.205C>A p.L69M Missense 2/9 - 1
22-22162051-GG-CA c.203_204delinsTG p.T68M Missense 2/9 - 1
22-22162051-GG-CC c.203_204inv p.T68R Missense 2/9 - 1
22-22162051-GG-CT c.203_204delinsAG p.T68K Missense 2/9 - 1
22-22162051-GGT-CCA c.202_204delinsTGG p.T68W Missense 2/9 - 1
22-22162051-GGT-CTC c.202_204delinsGAG p.T68E Missense 2/9 - 1
22-22162051-GGT-TTG c.202_204delinsCAA p.T68Q Missense 2/9 - 1
22-22162052-G-A c.203C>T p.T68I Missense 2/9 - 1
22-22162052-G-C c.203C>G p.T68S Missense 2/9 - 1
22-22162052-G-T c.203C>A p.T68N Missense 2/9 - 1
22-22162052-GT-AA c.202_203delinsTT p.T68F Missense 2/9 - 1
22-22162052-GT-AC c.202_203inv p.T68V Missense 2/9 - 1
22-22162052-GT-AG c.202_203delinsCT p.T68L Missense 2/9 - 1
22-22162052-GT-CA c.202_203delinsTG p.T68C Missense 2/9 - 1
22-22162052-GT-CC c.202_203delinsGG p.T68G Missense 2/9 - 1
22-22162052-GT-TA c.202_203delinsTA p.T68Y Missense 2/9 - 1
22-22162052-GT-TC c.202_203delinsGA p.T68D Missense 2/9 - 1
22-22162053-T-A c.202A>T p.T68S Missense 2/9 - 1
22-22162053-T-C c.202A>G p.T68A Missense 2/9 - 1
22-22162053-T-G c.202A>C p.T68P Missense 2/9 - 1
22-22162054-T-A c.201A>T p.R67S Missense 2/9 - 10
22-22162054-TC-CA c.200_201delinsTG p.R67M Missense 2/9 - 1
22-22162054-TC-GT c.200_201delinsAC p.R67N Missense 2/9 - 1
22-22162054-TCT-ACA c.199_201delinsTGT p.R67C Missense 2/9 - 2
22-22162054-TCT-CCA c.199_201delinsTGG p.R67W Missense 2/9 - 1
22-22162054-T-G c.201A>C p.R67S Missense 2/9 - 10
22-22162055-C-A c.200G>T p.R67I Missense 2/9 - 2
22-22162055-C-T c.200G>A p.R67K Missense 2/9 - 1
22-22162055-CT-GC c.199_200delinsGC p.R67A Missense 2/9 - 1
22-22162055-CT-TC c.199_200delinsGA p.R67E Missense 2/9 - 1
22-22162055-CT-TG c.199_200delinsCA p.R67Q Missense 2/9 - 1
22-22162057-C-A c.198G>T p.Q66H Missense 2/9 - 1
22-22162057-C-G c.198G>C p.Q66H Missense 2/9 - 1
22-22162057-CTG-AAA c.196_198delinsTTT p.Q66F Missense 2/9 - 1
22-22162057-CTG-ACA c.196_198delinsTGT p.Q66C Missense 2/9 - 1
22-22162057-CTG-GAT c.196_198delinsATC p.Q66I Missense 2/9 - 1
22-22162057-CTG-GTC c.196_198delinsGAC p.Q66D Missense 2/9 - 1
22-22162058-T-A c.197A>T p.Q66L Missense 2/9 - 2
22-22162058-T-C c.197A>G p.Q66R Missense 2/9 - 1
22-22162058-TG-CA c.196_197inv p.Q66W Missense 2/9 - 1
22-22162058-TG-GA c.196_197delinsTC p.Q66S Missense 2/9 - 1
22-22162058-TG-GC c.196_197delinsGC p.Q66A Missense 2/9 - 1
22-22162058-TG-GT c.196_197delinsAC p.Q66T Missense 2/9 - 1
22-22162059-G-C c.196C>G p.Q66E Missense 2/9 - 1
22-22162059-G-T c.196C>A p.Q66K Missense 2/9 - 1
22-22162060-G-C c.195C>G p.C65W Missense 2/9 - 1
22-22162060-GCA-CAT c.193_195delinsATG p.C65M Missense 2/9 - 1
22-22162060-GCA-CTC c.193_195delinsGAG p.C65E Missense 2/9 - 1
22-22162061-C-A c.194G>T p.C65F Missense 2/9 - 1
22-22162061-CA-AC c.193_194delinsGT p.C65V Missense 2/9 - 1
22-22162061-CA-GC c.193_194delinsGC p.C65A Missense 2/9 - 1
22-22162061-CA-TC c.193_194delinsGA p.C65D Missense 2/9 - 1
22-22162061-CA-TT c.193_194delinsAA p.C65N Missense 2/9 - 1
22-22162061-C-T c.194G>A p.C65Y Missense 2/9 - 4
22-22162061-C-G c.194G>C p.C65S Missense 2/9 - 1
22-22162062-A-G c.193T>C p.C65R Missense 2/9 - 1
22-22162062-A-T c.193T>A p.C65S Missense 2/9 - 1
22-22162063-GTA-CAT c.190_192delinsATG p.Y64M Missense 2/9 - 1
22-22162063-GTA-CTT c.190_192delinsAAG p.Y64K Missense 2/9 - 2
22-22162064-T-A c.191A>T p.Y64F Missense 2/9 - 1
22-22162064-TA-AC c.190_191delinsGT p.Y64V Missense 2/9 - 1
22-22162064-TA-AG c.190_191delinsCT p.Y64L Missense 2/9 - 1
22-22162064-TA-AT c.190_191delinsAT p.Y64I Missense 2/9 - 1
22-22162064-TA-GC c.190_191delinsGC p.Y64A Missense 2/9 - 3
22-22162064-TA-GT c.190_191delinsAC p.Y64T Missense 2/9 - 1
22-22162064-T-C c.191A>G p.Y64C Missense 2/9 - 2
22-22162065-A-C c.190T>G p.Y64D Missense 2/9 - 2
22-22162065-A-G c.190T>C p.Y64H Missense 2/9 - 1
22-22162065-A-T c.190T>A p.Y64N Missense 2/9 - 4
22-22162066-GG-CA c.188_189delinsTG p.T63M Missense 2/9 - 1
22-22162066-GG-CT c.188_189delinsAG p.T63K Missense 2/9 - 1
22-22162067-G-A c.188C>T p.T63I Missense 2/9 - 1
22-22162067-G-C c.188C>G p.T63S Missense 2/9 - 1
22-22162067-G-T c.188C>A p.T63N Missense 2/9 - 1
22-22162067-GT-AA c.187_188delinsTT p.T63F Missense 2/9 - 1
22-22162067-GT-AG c.187_188delinsCT p.T63L Missense 2/9 - 1
22-22162067-GT-CC c.187_188delinsGG p.T63G Missense 2/9 - 1
22-22162067-GT-TG c.187_188delinsCA p.T63H Missense 2/9 - 1
22-22162068-T-A c.187A>T p.T63S Missense 2/9 - 1
22-22162069-C-A c.186G>T p.Q62H Missense 2/9 - 1
22-22162069-C-G c.186G>C p.Q62H Missense 2/9 - 1
22-22162069-CTG-AAA c.184_186delinsTTT p.Q62F Missense 2/9 - 1
22-22162069-CTG-ACA c.184_186delinsTGT p.Q62C Missense 2/9 - 1
22-22162069-CTG-GTC c.184_186delinsGAC p.Q62D Missense 2/9 - 1
22-22162070-T-A c.185A>T p.Q62L Missense 2/9 - 1
22-22162070-T-C c.185A>G p.Q62R Missense 2/9 - 1
22-22162070-T-G c.185A>C p.Q62P Missense 2/9 - 1
22-22162070-TG-AC c.184_185delinsGT p.Q62V Missense 2/9 - 1
22-22162070-TG-AT c.184_185delinsAT p.Q62M Missense 2/9 - 1
22-22162070-TG-CC c.184_185delinsGG p.Q62G Missense 2/9 - 1
22-22162070-TG-GA c.184_185delinsTC p.Q62S Missense 2/9 - 1
22-22162070-TG-GC c.184_185delinsGC p.Q62A Missense 2/9 - 1
22-22162070-TG-GT c.184_185delinsAC p.Q62T Missense 2/9 - 1
22-22162071-G-C c.184C>G p.Q62E Missense 2/9 - 1
22-22162071-G-T c.184C>A p.Q62K Missense 2/9 - 1
22-22162072-G-C c.183C>G p.H61Q Missense 2/9 - 1
22-22162072-G-T c.183C>A p.H61Q Missense 2/9 - 1
22-22162072-GTG-CCA c.181_183delinsTGG p.H61W Missense 2/9 - 1
22-22162072-GTG-CTC c.181_183delinsGAG p.H61E Missense 2/9 - 1
22-22162072-GTG-CTT c.181_183delinsAAG p.H61K Missense 2/9 - 1
22-22162073-T-A c.182A>T p.H61L Missense 2/9 - 1
22-22162073-T-C c.182A>G p.H61R Missense 2/9 - 1
22-22162073-T-G c.182A>C p.H61P Missense 2/9 - 1
22-22162073-TG-AC c.181_182delinsGT p.H61V Missense 2/9 - 1
22-22162073-TG-AT c.181_182delinsAT p.H61I Missense 2/9 - 1
22-22162073-TG-CA c.181_182inv p.H61C Missense 2/9 - 1
22-22162073-TG-CC c.181_182delinsGG p.H61G Missense 2/9 - 1
22-22162073-TG-CT c.181_182delinsAG p.H61S Missense 2/9 - 1
22-22162073-TG-GC c.181_182delinsGC p.H61A Missense 2/9 - 1
22-22162073-TG-GT c.181_182delinsAC p.H61T Missense 2/9 - 1
22-22162074-G-A c.181C>T p.H61Y Missense 2/9 - 1
22-22162074-G-C c.181C>G p.H61D Missense 2/9 - 1
22-22162074-G-T c.181C>A p.H61N Missense 2/9 - 1
22-22162075-C-A c.180G>T p.E60D Missense 2/9 - 1
22-22162075-C-G c.180G>C p.E60D Missense 2/9 - 1
22-22162075-C-T c.180G>A p.E60= Synonymous 2/9 - 1
22-22162075-CTC-GTT c.178_180delinsAAC p.E60N Missense 2/9 - 1
22-22162076-T-A c.179A>T p.E60V Missense 2/9 - 1
22-22162076-TC-AT c.178_179delinsAT p.E60M Missense 2/9 - 1
22-22162076-TC-CT c.178_179delinsAG p.E60R Missense 2/9 - 1
22-22162076-TC-GA c.178_179inv p.E60S Missense 2/9 - 1
22-22162076-T-G c.179A>C p.E60A Missense 2/9 - 1
22-22162077-C-G c.178G>C p.E60Q Missense 2/9 - 1
22-22162077-C-T c.178G>A p.E60K Missense 2/9 - 1
22-22162078-AAA-CAT c.175_177delinsATG p.F59M Missense 2/9 - 1
22-22162078-AAA-CTC c.175_177delinsGAG p.F59E Missense 2/9 - 1
22-22162078-AA-CC c.176_177delinsGG p.F59W Missense 2/9 - 1
22-22162079-AA-GC c.175_176delinsGC p.F59A Missense 2/9 - 1
22-22162079-AA-GG c.175_176delinsCC p.F59P Missense 2/9 - 1
22-22162079-AA-TC c.175_176delinsGA p.F59D Missense 2/9 - 1
22-22162079-AA-TG c.175_176delinsCA p.F59H Missense 2/9 - 1
22-22162079-AA-TT c.175_176inv p.F59N Missense 2/9 - 1
22-22162079-A-C c.176T>G p.F59C Missense 2/9 - 2
22-22162079-A-G c.176T>C p.F59S Missense 2/9 - 1
22-22162079-A-T c.176T>A p.F59Y Missense 2/9 - 1
22-22162078-A-C c.177T>G p.F59L Missense 2/9 - 1
22-22162078-A-T c.177T>A p.F59L Missense 2/9 - 1
22-22162080-A-G c.175T>C p.F59L Missense 2/9 - 1
22-22162080-A-T c.175T>A p.F59I Missense 2/9 - 1
22-22162081-GGG-CAT c.172_174delinsATG p.P58M Missense 2/9 - 1
22-22162081-GGG-CTC c.172_174delinsGAG p.P58E Missense 2/9 - 1
22-22162081-GGG-CTT c.172_174delinsAAG p.P58K Missense 2/9 - 2
22-22162081-GG-TT c.173_174delinsAA p.P58Q Missense 2/9 - 1
22-22162082-G-A c.173C>T p.P58L Missense 2/9 - 4
22-22162082-GG-AA c.172_173delinsTT p.P58F Missense 2/9 - 1
22-22162082-GG-AC c.172_173delinsGT p.P58V Missense 2/9 - 1
22-22162082-GG-AT c.172_173delinsAT p.P58I Missense 2/9 - 1
22-22162082-GG-CA c.172_173delinsTG p.P58C Missense 2/9 - 1
22-22162082-GG-CC c.172_173inv p.P58G Missense 2/9 - 1
22-22162082-GG-TT c.172_173delinsAA p.P58N Missense 2/9 - 1
22-22162082-G-T c.173C>A p.P58H Missense 2/9 - 1
22-22162083-G-A c.172C>T p.P58S Missense 2/9 - 2
22-22162083-G-C c.172C>G p.P58A Missense 2/9 - 1
22-22162083-G-T c.172C>A p.P58T Missense 2/9 - 2
22-22162084-GC-CA c.170_171delinsTG p.S57M Missense 2/9 - 1
22-22162084-GCT-CCA c.169_171delinsTGG p.S57W Missense 2/9 - 1
22-22162084-GCT-TTG c.169_171delinsCAA p.S57Q Missense 2/9 - 1
22-22162085-C-A c.170G>T p.S57I Missense 2/9 - 1
22-22162085-C-G c.170G>C p.S57T Missense 2/9 - 1
22-22162085-C-T c.170G>A p.S57N Missense 2/9 - 1
22-22162085-CT-AA c.169_170delinsTT p.S57F Missense 2/9 - 1
22-22162085-CT-AC c.169_170delinsGT p.S57V Missense 2/9 - 1
22-22162085-CT-AG c.169_170inv p.S57L Missense 2/9 - 1
22-22162085-CT-GC c.169_170delinsGC p.S57A Missense 2/9 - 1
22-22162085-CT-TA c.169_170delinsTA p.S57Y Missense 2/9 - 1
22-22162085-CT-TC c.169_170delinsGA p.S57D Missense 2/9 - 1
22-22162085-CT-TG c.169_170delinsCA p.S57H Missense 2/9 - 1
22-22162086-T-C c.169A>G p.S57G Missense 2/9 - 1
22-22162087-GA-CC c.167_168delinsGG p.I56R Missense 2/9 - 1
22-22162087-GA-CT c.167_168delinsAG p.I56K Missense 2/9 - 1
22-22162087-GAT-CCA c.166_168delinsTGG p.I56W Missense 2/9 - 1
22-22162087-GAT-TTG c.166_168delinsCAA p.I56Q Missense 2/9 - 1
22-22162088-A-C c.167T>G p.I56S Missense 2/9 - 1
22-22162088-A-G c.167T>C p.I56T Missense 2/9 - 1
22-22162088-A-T c.167T>A p.I56N Missense 2/9 - 1
22-22162088-AT-CA c.166_167delinsTG p.I56C Missense 2/9 - 1
22-22162088-AT-GG c.166_167delinsCC p.I56P Missense 2/9 - 1
22-22162088-AT-TC c.166_167delinsGA p.I56D Missense 2/9 - 1
22-22162088-AT-TG c.166_167delinsCA p.I56H Missense 2/9 - 1
22-22162089-T-A c.166A>T p.I56F Missense 2/9 - 1
22-22162089-T-C c.166A>G p.I56V Missense 2/9 - 1
22-22162089-T-G c.166A>C p.I56L Missense 2/9 - 1
22-22162090-T-A c.165A>T p.K55N Missense 2/9 - 1
22-22162090-T-G c.165A>C p.K55N Missense 2/9 - 1
22-22162090-TT-CA c.164_165delinsTG p.K55M Missense 2/9 - 1
22-22162090-TT-GC c.164_165delinsGC p.K55S Missense 2/9 - 1
22-22162090-TTT-ACA c.163_165delinsTGT p.K55C Missense 2/9 - 1
22-22162090-TTT-ATA c.163_165delinsTAT p.K55Y Missense 2/9 - 1
22-22162090-TTT-CCA c.163_165delinsTGG p.K55W Missense 2/9 - 1
22-22162091-T-A c.164A>T p.K55I Missense 2/9 - 1
22-22162091-T-G c.164A>C p.K55T Missense 2/9 - 1
22-22162091-TT-AC c.163_164delinsGT p.K55V Missense 2/9 - 1
22-22162091-TT-AG c.163_164delinsCT p.K55L Missense 2/9 - 1
22-22162091-TT-CC c.163_164delinsGG p.K55G Missense 2/9 - 1
22-22162091-TT-GC c.163_164delinsGC p.K55A Missense 2/9 - 1
22-22162091-TT-GG c.163_164delinsCC p.K55P Missense 2/9 - 1
22-22162092-T-G c.163A>C p.K55Q Missense 2/9 - 1
22-22162093-C-A c.162G>T p.K54N Missense 2/9 - 2
22-22162093-C-G c.162G>C p.K54N Missense 2/9 - 2
22-22162093-CT-GA c.161_162delinsTC p.K54I Missense 2/9 - 1
22-22162093-CT-GC c.161_162delinsGC p.K54S Missense 2/9 - 1
22-22162093-CTT-AAA c.160_162delinsTTT p.K54F Missense 2/9 - 1
22-22162093-CTT-ACA c.160_162delinsTGT p.K54C Missense 2/9 - 1
22-22162093-CTT-ATA c.160_162delinsTAT p.K54Y Missense 2/9 - 1
22-22162093-CTT-ATG c.160_162delinsCAT p.K54H Missense 2/9 - 1
22-22162093-CTT-GTC c.160_162delinsGAC p.K54D Missense 2/9 - 1
22-22162094-T-A c.161A>T p.K54M Missense 2/9 - 1
22-22162094-T-C c.161A>G p.K54R Missense 2/9 - 21
22-22162094-T-G c.161A>C p.K54T Missense 2/9 - 1
22-22162094-TT-AC c.160_161delinsGT p.K54V Missense 2/9 - 1
22-22162094-TT-AG c.160_161delinsCT p.K54L Missense 2/9 - 1
22-22162094-TT-CA c.160_161delinsTG p.K54W Missense 2/9 - 1
22-22162094-TT-CC c.160_161delinsGG p.K54G Missense 2/9 - 1
22-22162094-TT-GC c.160_161delinsGC p.K54A Missense 2/9 - 3
22-22162095-T-C c.160A>G p.K54E Missense 2/9 - 1
22-22162095-T-G c.160A>C p.K54Q Missense 2/9 - 1
22-22162096-GA-CC c.158_159delinsGG p.I53R Missense 2/9 - 1
22-22162096-GA-CT c.158_159delinsAG p.I53K Missense 2/9 - 1
22-22162096-GAT-CCA c.157_159delinsTGG p.I53W Missense 2/9 - 1
22-22162096-GAT-CTC c.157_159delinsGAG p.I53E Missense 2/9 - 1
22-22162096-GAT-TTG c.157_159delinsCAA p.I53Q Missense 2/9 - 1
22-22162096-G-C c.159C>G p.I53M Missense 2/9 - 2
22-22162097-A-C c.158T>G p.I53S Missense 2/9 - 1
22-22162097-A-T c.158T>A p.I53N Missense 2/9 - 1
22-22162097-AT-CA c.157_158delinsTG p.I53C Missense 2/9 - 1
22-22162097-AT-CC c.157_158delinsGG p.I53G Missense 2/9 - 1
22-22162097-AT-GC c.157_158delinsGC p.I53A Missense 2/9 - 1
22-22162097-AT-GG c.157_158delinsCC p.I53P Missense 2/9 - 1
22-22162097-AT-TA c.157_158delinsTA p.I53Y Missense 2/9 - 1
22-22162097-AT-TC c.157_158delinsGA p.I53D Missense 2/9 - 1
22-22162097-AT-TG c.157_158delinsCA p.I53H Missense 2/9 - 1
22-22162098-T-A c.157A>T p.I53F Missense 2/9 - 1
22-22162098-T-C c.157A>G p.I53V Missense 2/9 - 1
22-22162098-T-G c.157A>C p.I53L Missense 2/9 - 1
22-22162099-A-C c.156T>G p.A52= Synonymous 2/9 - 1
22-22162099-A-G c.156T>C p.A52= Synonymous 2/9 - 1
22-22162099-AGC-CAT c.154_156delinsATG p.A52M Missense 2/9 - 1
22-22162099-AGC-CCA c.154_156delinsTGG p.A52W Missense 2/9 - 1
22-22162099-AGC-CTT c.154_156delinsAAG p.A52K Missense 2/9 - 1
22-22162099-AG-CT c.155_156inv p.A52E Missense 2/9 - 1
22-22162099-A-T c.156T>A p.A52= Synonymous 2/9 - 1
22-22162100-G-A c.155C>T p.A52V Missense 2/9 - 1
22-22162100-G-C c.155C>G p.A52G Missense 2/9 - 1
22-22162100-GC-AA c.154_155delinsTT p.A52F Missense 2/9 - 1
22-22162100-GC-AG c.154_155delinsCT p.A52L Missense 2/9 - 1
22-22162100-GC-AT c.154_155delinsAT p.A52I Missense 2/9 - 1
22-22162100-GC-CA c.154_155delinsTG p.A52C Missense 2/9 - 1
22-22162100-GC-CG c.154_155delinsCG p.A52R Missense 2/9 - 3
22-22162100-GC-TG c.154_155delinsCA p.A52H Missense 2/9 - 1
22-22162100-GC-TT c.154_155delinsAA p.A52N Missense 2/9 - 1
22-22162100-G-T c.155C>A p.A52D Missense 2/9 - 1
22-22162101-C-A c.154G>T p.A52S Missense 2/9 - 1
22-22162101-C-G c.154G>C p.A52P Missense 2/9 - 1
22-22162101-C-T c.154G>A p.A52T Missense 2/9 - 1
22-22162102-TAC-AAA c.151_153delinsTTT p.V51F Missense 2/9 - 1
22-22162102-TAC-ACA c.151_153delinsTGT p.V51C Missense 2/9 - 1
22-22162102-TAC-ATA c.151_153delinsTAT p.V51Y Missense 2/9 - 1
22-22162102-TAC-ATG c.151_153delinsCAT p.V51H Missense 2/9 - 1
22-22162102-TAC-CAT c.151_153delinsATG p.V51M Missense 2/9 - 1
22-22162102-TAC-CCA c.151_153delinsTGG p.V51W Missense 2/9 - 1
22-22162102-TA-GT c.152_153delinsAC p.V51D Missense 2/9 - 1
22-22162103-A-C c.152T>G p.V51G Missense 2/9 - 1
22-22162103-AC-GA c.151_152delinsTC p.V51S Missense 2/9 - 1
22-22162103-AC-GG c.151_152delinsCC p.V51P Missense 2/9 - 1
22-22162103-AC-TT c.151_152delinsAA p.V51K Missense 2/9 - 1
22-22162103-A-T c.152T>A p.V51E Missense 2/9 - 1
22-22162104-C-A c.151G>T p.V51L Missense 2/9 - 1
22-22162104-C-G c.151G>C p.V51L Missense 2/9 - 1
22-22162104-C-T c.151G>A p.V51I Missense 2/9 - 1
22-22162105-TCG-ATA c.148_150delinsTAT p.R50Y Missense 2/9 - 1
22-22162105-TCG-CAT c.148_150delinsATG p.R50M Missense 2/9 - 1
22-22162105-TCG-CCA c.148_150delinsTGG p.R50W Missense 2/9 - 1
22-22162105-TCG-GCT c.148_150delinsAGC p.R50S Missense 2/9 - 1
22-22162106-C-A c.149G>T p.R50L Missense 2/9 - 1
22-22162106-C-G c.149G>C p.R50P Missense 2/9 - 1
22-22162106-CG-AC c.148_149delinsGT p.R50V Missense 2/9 - 1
22-22162106-CG-AT c.148_149delinsAT p.R50I Missense 2/9 - 1
22-22162106-CG-GT c.148_149delinsAC p.R50T Missense 2/9 - 1
22-22162106-CG-TC c.148_149delinsGA p.R50E Missense 2/9 - 1
22-22162106-CG-TT c.148_149delinsAA p.R50K Missense 2/9 - 1
22-22162106-C-T c.149G>A p.R50Q Missense 2/9 - 1
22-22162107-G-C c.148C>G p.R50G Missense 2/9 - 1
22-22162108-AAC-CAT c.145_147delinsATG p.V49M Missense 2/9 - 1
22-22162108-AAC-CTT c.145_147delinsAAG p.V49K Missense 2/9 - 1
22-22162108-AA-CT c.146_147delinsAG p.V49E Missense 2/9 - 1
22-22162108-AAC-TTG c.145_147delinsCAA p.V49Q Missense 2/9 - 1
22-22162109-AC-CA c.145_146delinsTG p.V49C Missense 2/9 - 1
22-22162109-AC-CG c.145_146delinsCG p.V49R Missense 2/9 - 1
22-22162109-AC-GG c.145_146delinsCC p.V49P Missense 2/9 - 1
22-22162109-AC-GT c.145_146inv p.V49T Missense 2/9 - 1
22-22162109-AC-TA c.145_146delinsTA p.V49Y Missense 2/9 - 1
22-22162109-AC-TG c.145_146delinsCA p.V49H Missense 2/9 - 2
22-22162109-AC-TT c.145_146delinsAA p.V49N Missense 2/9 - 1
22-22162109-A-G c.146T>C p.V49A Missense 2/9 - 1
22-22162109-A-T c.146T>A p.V49D Missense 2/9 - 1
22-22162111-T-A c.144A>T p.K48N Missense 2/9 - 1
22-22162111-T-G c.144A>C p.K48N Missense 2/9 - 1
22-22162111-TT-CA c.143_144delinsTG p.K48M Missense 2/9 - 1
22-22162111-TT-GC c.143_144delinsGC p.K48S Missense 2/9 - 1
22-22162111-TTT-CCA c.142_144delinsTGG p.K48W Missense 2/9 - 1
22-22162111-TTT-GTC c.142_144delinsGAC p.K48D Missense 2/9 - 1
22-22162112-T-C c.143A>G p.K48R Missense 2/9 - 8
22-22162112-TT-CC c.142_143delinsGG p.K48G Missense 2/9 - 1
22-22162113-T-C c.142A>G p.K48E Missense 2/9 - 1
22-22162113-T-G c.142A>C p.K48Q Missense 2/9 - 1
22-22162114-G-C c.141C>G p.N47K Missense 2/9 - 1
22-22162114-G-T c.141C>A p.N47K Missense 2/9 - 1
22-22162114-GTT-CCA c.139_141delinsTGG p.N47W Missense 2/9 - 1
22-22162115-T-A c.140A>T p.N47I Missense 2/9 - 1
22-22162115-TT-AC c.139_140delinsGT p.N47V Missense 2/9 - 1
22-22162116-T-A c.139A>T p.N47Y Missense 2/9 - 1
22-22162117-GAC-CTT c.136_138delinsAAG p.V46K Missense 2/9 - 1
22-22162117-GA-CT c.137_138delinsAG p.V46E Missense 2/9 - 1
22-22162118-A-C c.137T>G p.V46G Missense 2/9 - 1
22-22162118-AC-CA c.136_137delinsTG p.V46C Missense 2/9 - 1
22-22162118-AC-CG c.136_137delinsCG p.V46R Missense 2/9 - 1
22-22162118-AC-CT c.136_137delinsAG p.V46S Missense 2/9 - 1
22-22162118-AC-GT c.136_137inv p.V46T Missense 2/9 - 1
22-22162118-A-T c.137T>A p.V46D Missense 2/9 - 1
22-22162119-C-A c.136G>T p.V46F Missense 2/9 - 1
22-22162119-C-T c.136G>A p.V46I Missense 2/9 - 1
22-22162120-A-C c.135T>G p.N45K Missense 2/9 - 1
22-22162120-A-T c.135T>A p.N45K Missense 2/9 - 1
22-22162120-AT-CA c.134_135delinsTG p.N45M Missense 2/9 - 1
22-22162121-T-A c.134A>T p.N45I Missense 2/9 - 1
22-22162121-T-C c.134A>G p.N45S Missense 2/9 - 1
22-22162121-T-G c.134A>C p.N45T Missense 2/9 - 1
22-22162121-TT-AA c.133_134inv p.N45F Missense 2/9 - 1
22-22162121-TT-AC c.133_134delinsGT p.N45V Missense 2/9 - 1
22-22162121-TT-CA c.133_134delinsTG p.N45C Missense 2/9 - 1
22-22162121-TT-CC c.133_134delinsGG p.N45G Missense 2/9 - 1
22-22162121-TT-GG c.133_134delinsCC p.N45P Missense 2/9 - 1
22-22162122-T-A c.133A>T p.N45Y Missense 2/9 - 1
22-22162123-A-C c.132T>G p.D44E Missense 2/9 - 1
22-22162123-A-T c.132T>A p.D44E Missense 2/9 - 1
22-22162123-ATC-CTT c.130_132delinsAAG p.D44K Missense 2/9 - 1
22-22162123-ATC-TTG c.130_132delinsCAA p.D44Q Missense 2/9 - 1
22-22162124-T-A c.131A>T p.D44V Missense 2/9 - 1
22-22162124-TC-AT c.130_131delinsAT p.D44I Missense 2/9 - 1
22-22162124-TC-CA c.130_131delinsTG p.D44C Missense 2/9 - 1
22-22162124-TC-CG c.130_131delinsCG p.D44R Missense 2/9 - 2
22-22162124-TC-CT c.130_131delinsAG p.D44S Missense 2/9 - 1
22-22162124-T-G c.131A>C p.D44A Missense 2/9 - 1
22-22162125-C-A c.130G>T p.D44Y Missense 2/9 - 2
22-22162125-C-G c.130G>C p.D44H Missense 2/9 - 1
22-22162125-C-T c.130G>A p.D44N Missense 2/9 - 1
22-22162126-A-C c.129T>G p.Y43* Nonsense 2/9 - 1
22-22162126-ATA-CTT c.127_129delinsAAG p.Y43K Missense 2/9 - 1
22-22162126-ATA-TTG c.127_129delinsCAA p.Y43Q Missense 2/9 - 1
22-22162126-AT-CC c.128_129delinsGG p.Y43W Missense 2/9 - 1
22-22162127-T-A c.128A>T p.Y43F Missense 2/9 - 1
22-22162127-TA-AC c.127_128delinsGT p.Y43V Missense 2/9 - 1
22-22162127-TA-AG c.127_128delinsCT p.Y43L Missense 2/9 - 1
22-22162127-TA-AT c.127_128delinsAT p.Y43I Missense 2/9 - 1
22-22162127-TA-CC c.127_128delinsGG p.Y43G Missense 2/9 - 1
22-22162127-TA-CG c.127_128delinsCG p.Y43R Missense 2/9 - 1
22-22162127-TA-GC c.127_128delinsGC p.Y43A Missense 2/9 - 2
22-22162127-TA-GT c.127_128delinsAC p.Y43T Missense 2/9 - 1
22-22162127-T-C c.128A>G p.Y43C Missense 2/9 - 1
22-22162127-T-G c.128A>C p.Y43S Missense 2/9 - 1
22-22162128-A-C c.127T>G p.Y43D Missense 2/9 - 1
22-22162128-A-G c.127T>C p.Y43H Missense 2/9 - 1
22-22162128-A-T c.127T>A p.Y43N Missense 2/9 - 1
22-22162129-AGC-CAT c.124_126delinsATG p.A42M Missense 2/9 - 1
22-22162129-AGC-CCA c.124_126delinsTGG p.A42W Missense 2/9 - 1
22-22162129-AGC-CTT c.124_126delinsAAG p.A42K Missense 2/9 - 1
22-22162129-AG-CT c.125_126inv p.A42E Missense 2/9 - 1
22-22162129-AGC-TTG c.124_126delinsCAA p.A42Q Missense 2/9 - 1
22-22162130-G-A c.125C>T p.A42V Missense 2/9 - 1
22-22162130-G-C c.125C>G p.A42G Missense 2/9 - 1
22-22162130-GC-AA c.124_125delinsTT p.A42F Missense 2/9 - 1
22-22162130-GC-AT c.124_125delinsAT p.A42I Missense 2/9 - 1
22-22162130-GC-CG c.124_125delinsCG p.A42R Missense 2/9 - 1
22-22162130-GC-TG c.124_125delinsCA p.A42H Missense 2/9 - 1
22-22162130-GC-TT c.124_125delinsAA p.A42N Missense 2/9 - 1
22-22162131-C-A c.124G>T p.A42S Missense 2/9 - 1
22-22162132-AGA-CAT c.121_123delinsATG p.S41M Missense 2/9 - 1
22-22162132-AGA-CTC c.121_123delinsGAG p.S41E Missense 2/9 - 1
22-22162132-AG-CC c.122_123delinsGG p.S41W Missense 2/9 - 1
22-22162133-G-A c.122C>T p.S41F Missense 2/9 - 2
22-22162133-GA-CC c.121_122delinsGG p.S41G Missense 2/9 - 1
22-22162133-GA-TC c.121_122inv p.S41D Missense 2/9 - 1
22-22162133-GA-TG c.121_122delinsCA p.S41H Missense 2/9 - 1
22-22162133-GA-TT c.121_122delinsAA p.S41N Missense 2/9 - 1
22-22162133-G-C c.122C>G p.S41C Missense 2/9 - 1
22-22162133-G-T c.122C>A p.S41Y Missense 2/9 - 2
22-22162134-A-C c.121T>G p.S41A Missense 2/9 - 2
22-22162134-A-T c.121T>A p.S41T Missense 2/9 - 1
22-22162135-G-C c.120C>G p.C40W Missense 2/9 - 1
22-22162374-A-T c.120-239T>A - IntronicSNV - 1/8 1
22-22171567-G-A c.120-9432C>T - IntronicSNV - 1/8 2
22-22173358-G-A c.120-11223C>T - IntronicSNV - 1/8 1
22-22175985-T-A c.120-13850A>T - IntronicSNV - 1/8 1
22-22175985-T-C c.120-13850A>G - IntronicSNV - 1/8 1
22-22180183-C-T c.120-18048G>A - IntronicSNV - 1/8 4
22-22186562-T-C c.120-24427A>G - IntronicSNV - 1/8 1
22-22187093-G-A c.120-24958C>T - IntronicSNV - 1/8 5
22-22187093-G-T c.120-24958C>A - IntronicSNV - 1/8 5
22-22187660-A-C c.120-25525T>G - IntronicSNV - 1/8 1
22-22187660-A-T c.120-25525T>A - IntronicSNV - 1/8 1
22-22190163-C-A c.120-28028G>T - IntronicSNV - 1/8 3
22-22190785-T-A c.120-28650A>T - IntronicSNV - 1/8 1
22-22191575-G-C c.120-29440C>G - IntronicSNV - 1/8 2
22-22191585-G-A c.120-29450C>T - IntronicSNV - 1/8 2
22-22191585-G-C c.120-29450C>G - IntronicSNV - 1/8 2
22-22199970-C-T c.119+21642G>A - IntronicSNV - 1/8 6
22-22200530-T-A c.119+21082A>T - IntronicSNV - 1/8 2
22-22200530-T-C c.119+21082A>G - IntronicSNV - 1/8 2
22-22202164-C-T c.119+19448G>A - IntronicSNV - 1/8 1
22-22204793-G-A c.119+16819C>T - IntronicSNV - 1/8 11
22-22205353-C-G c.119+16259G>C - IntronicSNV - 1/8 1
22-22205353-C-T c.119+16259G>A - IntronicSNV - 1/8 1
22-22205611-A-C c.119+16001T>G - IntronicSNV - 1/8 1
22-22209139-T-C c.119+12473A>G - IntronicSNV - 1/8 6
22-22210135-A-C c.119+11477T>G - IntronicSNV - 1/8 4
22-22213969-T-C c.119+7643A>G - IntronicSNV - 1/8 1
22-22214746-G-A c.119+6866C>T - IntronicSNV - 1/8 1
22-22219449-A-T c.119+2163T>A - IntronicSNV - 1/8 2
22-22221530-G-A c.119+82C>T - IntronicSNV - 1/8 1
22-22221612-C-A c.119G>T p.C40F Missense 1/9 - 1
22-22221612-CA-AC c.118_119delinsGT p.C40V Missense 1/9 - 1
22-22221612-CA-AG c.118_119delinsCT p.C40L Missense 1/9 - 1
22-22221612-CA-TC c.118_119delinsGA p.C40D Missense 1/9 - 1
22-22221612-CA-TG c.118_119inv p.C40H Missense 1/9 - 1
22-22221612-C-T c.119G>A p.C40Y Missense 1/9 - 1
22-22221612-C-G c.119G>C p.C40S Missense 1/9 - 1
22-22221613-A-C c.118T>G p.C40G Missense 1/9 - 1
22-22221613-A-T c.118T>A p.C40S Missense 1/9 - 1
22-22221614-CAC-ACA c.115_117delinsTGT p.V39C Missense 1/9 - 1
22-22221614-CAC-ATA c.115_117delinsTAT p.V39Y Missense 1/9 - 1
22-22221614-CAC-GAT c.115_117delinsATC p.V39I Missense 1/9 - 1
22-22221614-CAC-GTT c.115_117delinsAAC p.V39N Missense 1/9 - 1
22-22221615-A-C c.116T>G p.V39G Missense 1/9 - 1
22-22221615-AC-CA c.115_116delinsTG p.V39W Missense 1/9 - 1
22-22221615-AC-CT c.115_116delinsAG p.V39R Missense 1/9 - 1
22-22221615-AC-GT c.115_116inv p.V39T Missense 1/9 - 1
22-22221615-AC-TG c.115_116delinsCA p.V39Q Missense 1/9 - 1
22-22221615-AC-TT c.115_116delinsAA p.V39K Missense 1/9 - 1
22-22221615-A-T c.116T>A p.V39E Missense 1/9 - 1
22-22221616-C-A c.115G>T p.V39L Missense 1/9 - 1
22-22221616-C-G c.115G>C p.V39L Missense 1/9 - 1
22-22221616-C-T c.115G>A p.V39M Missense 1/9 - 1
22-22221617-C-A c.114G>T p.M38I Missense 1/9 - 2
22-22221617-CA-GC c.113_114delinsGC p.M38S Missense 1/9 - 1
22-22221617-CA-GT c.113_114delinsAC p.M38N Missense 1/9 - 1
22-22221617-CAT-ATA c.112_114delinsTAT p.M38Y Missense 1/9 - 1
22-22221617-CAT-ATG c.112_114inv p.M38H Missense 1/9 - 1
22-22221617-CAT-GTC c.112_114delinsGAC p.M38D Missense 1/9 - 1
22-22221617-C-G c.114G>C p.M38I Missense 1/9 - 2
22-22221617-C-T c.114G>A p.M38I Missense 1/9 - 2
22-22221618-A-G c.113T>C p.M38T Missense 1/9 - 1
22-22221618-A-T c.113T>A p.M38K Missense 1/9 - 1
22-22221618-AT-CC c.112_113delinsGG p.M38G Missense 1/9 - 1
22-22221618-AT-GC c.112_113delinsGC p.M38A Missense 1/9 - 1
22-22221618-AT-TG c.112_113delinsCA p.M38Q Missense 1/9 - 1
22-22221619-T-A c.112A>T p.M38L Missense 1/9 - 1
22-22221619-T-C c.112A>G p.M38V Missense 1/9 - 1
22-22221619-T-G c.112A>C p.M38L Missense 1/9 - 1
22-22221620-GCC-CCA c.109_111delinsTGG p.G37W Missense 1/9 - 1
22-22221620-GC-CT c.110_111delinsAG p.G37E Missense 1/9 - 1
22-22221620-GCC-TTG c.109_111delinsCAA p.G37Q Missense 1/9 - 1
22-22221621-C-A c.110G>T p.G37V Missense 1/9 - 1
22-22221621-C-G c.110G>C p.G37A Missense 1/9 - 2
22-22221622-C-A c.109G>T p.G37C Missense 1/9 - 2
22-22221622-C-G c.109G>C p.G37R Missense 1/9 - 1
22-22221622-C-T c.109G>A p.G37S Missense 1/9 - 4
22-22221623-GTA-CAT c.106_108delinsATG p.Y36M Missense 1/9 - 1
22-22221623-GTA-CTT c.106_108delinsAAG p.Y36K Missense 1/9 - 1
22-22221623-GTA-TTG c.106_108delinsCAA p.Y36Q Missense 1/9 - 3
22-22221623-GT-CC c.107_108delinsGG p.Y36W Missense 1/9 - 1
22-22221624-T-A c.107A>T p.Y36F Missense 1/9 - 1
22-22221624-TA-AC c.106_107delinsGT p.Y36V Missense 1/9 - 2
22-22221624-TA-AG c.106_107delinsCT p.Y36L Missense 1/9 - 2
22-22221624-TA-AT c.106_107delinsAT p.Y36I Missense 1/9 - 1
22-22221624-TA-CC c.106_107delinsGG p.Y36G Missense 1/9 - 1
22-22221624-TA-CG c.106_107delinsCG p.Y36R Missense 1/9 - 1
22-22221624-TA-GC c.106_107delinsGC p.Y36A Missense 1/9 - 2
22-22221624-T-C c.107A>G p.Y36C Missense 1/9 - 1
22-22221625-A-C c.106T>G p.Y36D Missense 1/9 - 1
22-22221625-A-G c.106T>C p.Y36H Missense 1/9 - 4
22-22221625-A-T c.106T>A p.Y36N Missense 1/9 - 5
22-22221626-GGC-CAT c.103_105delinsATG p.A35M Missense 1/9 - 1
22-22221626-GGC-CTT c.103_105delinsAAG p.A35K Missense 1/9 - 1
22-22221626-GG-CT c.104_105delinsAG p.A35E Missense 1/9 - 1
22-22221627-G-A c.104C>T p.A35V Missense 1/9 - 1
22-22221627-GC-AG c.103_104delinsCT p.A35L Missense 1/9 - 1
22-22221627-GC-AT c.103_104delinsAT p.A35I Missense 1/9 - 1
22-22221627-GC-CA c.103_104delinsTG p.A35C Missense 1/9 - 1
22-22221627-G-T c.104C>A p.A35D Missense 1/9 - 1
22-22221628-C-A c.103G>T p.A35S Missense 1/9 - 1
22-22221628-C-G c.103G>C p.A35P Missense 1/9 - 1
22-22221628-C-T c.103G>A p.A35T Missense 1/9 - 1
22-22221629-GCC-CAT c.100_102delinsATG p.G34M Missense 1/9 - 1
22-22221629-GCC-CCA c.100_102delinsTGG p.G34W Missense 1/9 - 1
22-22221629-GCC-CTT c.100_102delinsAAG p.G34K Missense 1/9 - 1
22-22221629-GC-CT c.101_102delinsAG p.G34E Missense 1/9 - 1
22-22221629-GCC-TTG c.100_102delinsCAA p.G34Q Missense 1/9 - 1
22-22221630-C-A c.101G>T p.G34V Missense 1/9 - 2
22-22221630-CC-AA c.100_101delinsTT p.G34F Missense 1/9 - 1
22-22221630-CC-AT c.100_101delinsAT p.G34I Missense 1/9 - 1
22-22221630-CC-GG c.100_101inv p.G34P Missense 1/9 - 1
22-22221630-CC-GT c.100_101delinsAC p.G34T Missense 1/9 - 1
22-22221630-CC-TA c.100_101delinsTA p.G34Y Missense 1/9 - 1
22-22221630-CC-TT c.100_101delinsAA p.G34N Missense 1/9 - 1
22-22221630-C-T c.101G>A p.G34D Missense 1/9 - 1
22-22221631-C-A c.100G>T p.G34C Missense 1/9 - 1
22-22221631-C-G c.100G>C p.G34R Missense 1/9 - 1
22-22221631-C-T c.100G>A p.G34S Missense 1/9 - 2
22-22221632-C-A c.99G>T p.E33D Missense 1/9 - 2
22-22221632-C-G c.99G>C p.E33D Missense 1/9 - 2
22-22221632-CTC-AAA c.97_99delinsTTT p.E33F Missense 1/9 - 1
22-22221632-CTC-ATG c.97_99delinsCAT p.E33H Missense 1/9 - 1
22-22221632-CTC-GAT c.97_99delinsATC p.E33I Missense 1/9 - 1
22-22221632-CTC-GTT c.97_99delinsAAC p.E33N Missense 1/9 - 1
22-22221633-T-A c.98A>T p.E33V Missense 1/9 - 1
22-22221633-TC-CA c.97_98delinsTG p.E33W Missense 1/9 - 1
22-22221633-TC-CT c.97_98delinsAG p.E33R Missense 1/9 - 1
22-22221633-TC-GA c.97_98inv p.E33S Missense 1/9 - 1
22-22221633-TC-GG c.97_98delinsCC p.E33P Missense 1/9 - 1
22-22221633-TC-GT c.97_98delinsAC p.E33T Missense 1/9 - 1
22-22221633-T-G c.98A>C p.E33A Missense 1/9 - 1
22-22221634-C-G c.97G>C p.E33Q Missense 1/9 - 1
22-22221634-C-T c.97G>A p.E33K Missense 1/9 - 2
22-22221635-GCC-CAT c.94_96delinsATG p.G32M Missense 1/9 - 1
22-22221635-GCC-CCA c.94_96delinsTGG p.G32W Missense 1/9 - 1
22-22221635-GCC-CTT c.94_96delinsAAG p.G32K Missense 1/9 - 1
22-22221635-GCC-TTG c.94_96delinsCAA p.G32Q Missense 1/9 - 1
22-22221636-C-A c.95G>T p.G32V Missense 1/9 - 1
22-22221636-CC-AA c.94_95delinsTT p.G32F Missense 1/9 - 1
22-22221636-CC-AG c.94_95delinsCT p.G32L Missense 1/9 - 1
22-22221636-CC-AT c.94_95delinsAT p.G32I Missense 1/9 - 1
22-22221636-CC-TA c.94_95delinsTA p.G32Y Missense 1/9 - 1
22-22221636-C-G c.95G>C p.G32A Missense 1/9 - 1
22-22221636-C-T c.95G>A p.G32D Missense 1/9 - 1
22-22221637-C-A c.94G>T p.G32C Missense 1/9 - 2
22-22221637-C-T c.94G>A p.G32S Missense 1/9 - 1
22-22221638-GAT-CTC c.91_93delinsGAG p.I31E Missense 1/9 - 1
22-22221638-G-C c.93C>G p.I31M Missense 1/9 - 1
22-22221639-A-C c.92T>G p.I31S Missense 1/9 - 1
22-22221639-A-G c.92T>C p.I31T Missense 1/9 - 1
22-22221639-A-T c.92T>A p.I31N Missense 1/9 - 1
22-22221639-AT-CC c.91_92delinsGG p.I31G Missense 1/9 - 1
22-22221639-AT-GG c.91_92delinsCC p.I31P Missense 1/9 - 1
22-22221639-AT-TA c.91_92delinsTA p.I31Y Missense 1/9 - 1
22-22221639-AT-TC c.91_92delinsGA p.I31D Missense 1/9 - 1
22-22221640-T-A c.91A>T p.I31F Missense 1/9 - 1
22-22221641-GTA-CAT c.88_90delinsATG p.Y30M Missense 1/9 - 1
22-22221641-GTA-CTC c.88_90delinsGAG p.Y30E Missense 1/9 - 1
22-22221641-GTA-CTT c.88_90delinsAAG p.Y30K Missense 1/9 - 1
22-22221642-T-A c.89A>T p.Y30F Missense 1/9 - 1
22-22221642-TA-AC c.88_89delinsGT p.Y30V Missense 1/9 - 1
22-22221642-TA-AG c.88_89delinsCT p.Y30L Missense 1/9 - 1
22-22221642-TA-CC c.88_89delinsGG p.Y30G Missense 1/9 - 1
22-22221642-TA-GC c.88_89delinsGC p.Y30A Missense 1/9 - 1
22-22221642-TA-GG c.88_89delinsCC p.Y30P Missense 1/9 - 1
22-22221642-TA-GT c.88_89delinsAC p.Y30T Missense 1/9 - 1
22-22221642-T-G c.89A>C p.Y30S Missense 1/9 - 1
22-22221643-A-C c.88T>G p.Y30D Missense 1/9 - 1
22-22221643-A-G c.88T>C p.Y30H Missense 1/9 - 1
22-22221643-A-T c.88T>A p.Y30N Missense 1/9 - 1
22-22221644-CGA-ATG c.85_87delinsCAT p.S29H Missense 1/9 - 1
22-22221644-CG-AC c.86_87delinsGT p.S29C Missense 1/9 - 1
22-22221644-CGA-GAT c.85_87delinsATC p.S29I Missense 1/9 - 1
22-22221644-CGA-GTC c.85_87delinsGAC p.S29D Missense 1/9 - 1
22-22221644-CGA-GTT c.85_87delinsAAC p.S29N Missense 1/9 - 1
22-22221644-CG-AT c.86_87delinsAT p.S29Y Missense 1/9 - 1
22-22221645-G-A c.86C>T p.S29L Missense 1/9 - 3
22-22221645-GA-AC c.85_86delinsGT p.S29V Missense 1/9 - 1
22-22221645-GA-AT c.85_86delinsAT p.S29M Missense 1/9 - 1
22-22221645-GA-CT c.85_86delinsAG p.S29R Missense 1/9 - 1
22-22221645-GA-TG c.85_86delinsCA p.S29Q Missense 1/9 - 1
22-22221645-GA-TT c.85_86delinsAA p.S29K Missense 1/9 - 1
22-22221646-A-C c.85T>G p.S29A Missense 1/9 - 1
22-22221646-A-T c.85T>A p.S29T Missense 1/9 - 1
22-22221647-GAG-CAT c.82_84delinsATG p.L28M Missense 1/9 - 1
22-22221647-GAG-CCA c.82_84delinsTGG p.L28W Missense 1/9 - 2
22-22221647-GA-TT c.83_84delinsAA p.L28Q Missense 1/9 - 1
22-22221648-A-C c.83T>G p.L28R Missense 1/9 - 1
22-22221648-A-G c.83T>C p.L28P Missense 1/9 - 1
22-22221648-AG-CA c.82_83delinsTG p.L28C Missense 1/9 - 1
22-22221648-AG-CT c.82_83inv p.L28S Missense 1/9 - 1
22-22221648-AG-TC c.82_83delinsGA p.L28D Missense 1/9 - 1
22-22221648-AG-TT c.82_83delinsAA p.L28N Missense 1/9 - 1
22-22221648-A-T c.83T>A p.L28H Missense 1/9 - 1
22-22221649-G-A c.82C>T p.L28F Missense 1/9 - 1
22-22221650-G-C c.81C>G p.N27K Missense 1/9 - 1
22-22221650-G-T c.81C>A p.N27K Missense 1/9 - 1
22-22221650-GTT-CCA c.79_81delinsTGG p.N27W Missense 1/9 - 1
22-22221650-GTT-TTG c.79_81delinsCAA p.N27Q Missense 1/9 - 1
22-22221651-T-A c.80A>T p.N27I Missense 1/9 - 1
22-22221651-T-C c.80A>G p.N27S Missense 1/9 - 1
22-22221651-T-G c.80A>C p.N27T Missense 1/9 - 1
22-22221651-TT-CC c.79_80delinsGG p.N27G Missense 1/9 - 1
22-22221651-TT-GG c.79_80delinsCC p.N27P Missense 1/9 - 1
22-22221652-T-A c.79A>T p.N27Y Missense 1/9 - 1
22-22221652-T-C c.79A>G p.N27D Missense 1/9 - 1
22-22221653-GG-CC c.77_78inv p.T26R Missense 1/9 - 1
22-22221653-GGT-TTG c.76_78delinsCAA p.T26Q Missense 1/9 - 1
22-22221654-G-A c.77C>T p.T26I Missense 1/9 - 1
22-22221654-G-C c.77C>G p.T26S Missense 1/9 - 1
22-22221654-G-T c.77C>A p.T26N Missense 1/9 - 2
22-22221654-GT-TC c.76_77delinsGA p.T26D Missense 1/9 - 1
22-22221655-T-A c.76A>T p.T26S Missense 1/9 - 1
22-22221655-T-C c.76A>G p.T26A Missense 1/9 - 2
22-22221656-GTA-CTC c.73_75delinsGAG p.Y25E Missense 1/9 - 1
22-22221656-GTA-CTT c.73_75delinsAAG p.Y25K Missense 1/9 - 1
22-22221657-T-A c.74A>T p.Y25F Missense 1/9 - 1
22-22221657-TA-AG c.73_74delinsCT p.Y25L Missense 1/9 - 1
22-22221657-TA-CC c.73_74delinsGG p.Y25G Missense 1/9 - 1
22-22221657-T-G c.74A>C p.Y25S Missense 1/9 - 1
22-22221658-A-C c.73T>G p.Y25D Missense 1/9 - 1
22-22221658-A-G c.73T>C p.Y25H Missense 1/9 - 1
22-22221658-A-T c.73T>A p.Y25N Missense 1/9 - 1
22-22221659-GCG-CAT c.70_72delinsATG p.R24M Missense 1/9 - 1
22-22221659-GCG-CCA c.70_72delinsTGG p.R24W Missense 1/9 - 1
22-22221659-GCG-CTT c.70_72delinsAAG p.R24K Missense 1/9 - 1
22-22221660-C-A c.71G>T p.R24L Missense 1/9 - 1
22-22221660-C-G c.71G>C p.R24P Missense 1/9 - 1
22-22221660-CG-AC c.70_71delinsGT p.R24V Missense 1/9 - 1
22-22221660-CG-GT c.70_71delinsAC p.R24T Missense 1/9 - 1
22-22221660-CG-TC c.70_71delinsGA p.R24D Missense 1/9 - 1
22-22221660-C-T c.71G>A p.R24H Missense 1/9 - 1
22-22221661-G-A c.70C>T p.R24C Missense 1/9 - 1
22-22221661-G-C c.70C>G p.R24G Missense 1/9 - 1
22-22221661-G-T c.70C>A p.R24S Missense 1/9 - 1
22-22221662-CG-AT c.68_69delinsAT p.P23H Missense 1/9 - 3
22-22221662-CGG-ACA c.67_69delinsTGT p.P23C Missense 1/9 - 1
22-22221662-CGG-GAT c.67_69delinsATC p.P23I Missense 1/9 - 1
22-22221662-CGG-GTC c.67_69delinsGAC p.P23D Missense 1/9 - 1
22-22221662-CGG-GTT c.67_69delinsAAC p.P23N Missense 1/9 - 1
22-22221663-G-A c.68C>T p.P23L Missense 1/9 - 1
22-22221663-G-C c.68C>G p.P23R Missense 1/9 - 1
22-22221663-GG-AT c.67_68delinsAT p.P23M Missense 1/9 - 1
22-22221663-GG-TT c.67_68delinsAA p.P23K Missense 1/9 - 1
22-22221663-G-T c.68C>A p.P23Q Missense 1/9 - 1
22-22221664-G-A c.67C>T p.P23S Missense 1/9 - 1
22-22221664-G-C c.67C>G p.P23A Missense 1/9 - 1
22-22221664-G-T c.67C>A p.P23T Missense 1/9 - 1
22-22221665-CCC-GTT c.64_66delinsAAC p.G22N Missense 1/9 - 1
22-22221665-CC-GT c.65_66delinsAC p.G22D Missense 1/9 - 1
22-22221666-C-A c.65G>T p.G22V Missense 1/9 - 2
22-22221666-C-T c.65G>A p.G22E Missense 1/9 - 1
22-22221667-C-A c.64G>T p.G22W Missense 1/9 - 1
22-22221667-C-G c.64G>C p.G22R Missense 1/9 - 1
22-22221667-C-T c.64G>A p.G22R Missense 1/9 - 1
22-22221669-AC-GT c.61_62inv p.V21T Missense 1/9 - 1
22-22221669-AC-TG c.61_62delinsCA p.V21Q Missense 1/9 - 1
22-22221669-A-T c.62T>A p.V21E Missense 1/9 - 1
22-22221670-C-A c.61G>T p.V21L Missense 1/9 - 1
22-22221670-C-G c.61G>C p.V21L Missense 1/9 - 1
22-22221670-C-T c.61G>A p.V21M Missense 1/9 - 1
22-22221671-G-C c.60C>G p.D20E Missense 1/9 - 1
22-22221671-G-T c.60C>A p.D20E Missense 1/9 - 1
22-22221672-T-A c.59A>T p.D20V Missense 1/9 - 1
22-22221672-T-C c.59A>G p.D20G Missense 1/9 - 1
22-22221672-TC-AG c.58_59delinsCT p.D20L Missense 1/9 - 1
22-22221672-TC-CA c.58_59delinsTG p.D20C Missense 1/9 - 1
22-22221672-T-G c.59A>C p.D20A Missense 1/9 - 1
22-22221673-C-A c.58G>T p.D20Y Missense 1/9 - 2
22-22221675-AA-TG c.55_56delinsCA p.F19H Missense 1/9 - 1
22-22221675-AA-TT c.55_56inv p.F19N Missense 1/9 - 1
22-22221675-A-C c.56T>G p.F19C Missense 1/9 - 2
22-22221675-A-T c.56T>A p.F19Y Missense 1/9 - 1
22-22221674-G-C c.57C>G p.F19L Missense 1/9 - 1
22-22221674-G-T c.57C>A p.F19L Missense 1/9 - 1
22-22221676-A-C c.55T>G p.F19V Missense 1/9 - 1
22-22221676-A-G c.55T>C p.F19L Missense 1/9 - 1
22-22221676-A-T c.55T>A p.F19I Missense 1/9 - 1
22-22221677-CAC-AAA c.52_54delinsTTT p.V18F Missense 1/9 - 1
22-22221677-CAC-ATA c.52_54delinsTAT p.V18Y Missense 1/9 - 1
22-22221677-CAC-GAT c.52_54delinsATC p.V18I Missense 1/9 - 1
22-22221677-CAC-GTT c.52_54delinsAAC p.V18N Missense 1/9 - 1
22-22221677-CA-GT c.53_54delinsAC p.V18D Missense 1/9 - 1
22-22221678-A-C c.53T>G p.V18G Missense 1/9 - 1
22-22221678-AC-GA c.52_53delinsTC p.V18S Missense 1/9 - 1
22-22221678-AC-TG c.52_53delinsCA p.V18Q Missense 1/9 - 1
22-22221679-C-A c.52G>T p.V18L Missense 1/9 - 1
22-22221679-C-G c.52G>C p.V18L Missense 1/9 - 1
22-22221680-C-A c.51G>T p.Q17H Missense 1/9 - 1
22-22221680-C-G c.51G>C p.Q17H Missense 1/9 - 1
22-22221681-T-A c.50A>T p.Q17L Missense 1/9 - 1
22-22221681-T-C c.50A>G p.Q17R Missense 1/9 - 1
22-22221681-T-G c.50A>C p.Q17P Missense 1/9 - 1
22-22221681-TG-AT c.49_50delinsAT p.Q17M Missense 1/9 - 1
22-22221682-G-C c.49C>G p.Q17E Missense 1/9 - 1
22-22221682-G-T c.49C>A p.Q17K Missense 1/9 - 1
22-22221683-CCC-GTT c.46_48delinsAAC p.G16N Missense 1/9 - 1
22-22221683-CC-GT c.47_48delinsAC p.G16D Missense 1/9 - 1
22-22221684-C-A c.47G>T p.G16V Missense 1/9 - 2
22-22221684-CC-GT c.46_47delinsAC p.G16T Missense 1/9 - 1
22-22221684-CC-TT c.46_47delinsAA p.G16K Missense 1/9 - 1
22-22221684-C-T c.47G>A p.G16E Missense 1/9 - 1
22-22221685-C-A c.46G>T p.G16W Missense 1/9 - 1
22-22221685-C-G c.46G>C p.G16R Missense 1/9 - 1
22-22221685-C-T c.46G>A p.G16R Missense 1/9 - 1
22-22221686-GCG-CCA c.43_45delinsTGG p.R15W Missense 1/9 - 1
22-22221686-GCG-CTC c.43_45delinsGAG p.R15E Missense 1/9 - 1
22-22221686-GC-TT c.44_45delinsAA p.R15Q Missense 1/9 - 1
22-22221687-C-G c.44G>C p.R15P Missense 1/9 - 1
22-22221687-CG-AC c.43_44delinsGT p.R15V Missense 1/9 - 1
22-22221687-CG-GC c.43_44delinsGC p.R15A Missense 1/9 - 1
22-22221688-G-C c.43C>G p.R15G Missense 1/9 - 1
22-22221688-G-T c.43C>A p.R15S Missense 1/9 - 1
22-22221689-GAC-CAT c.40_42delinsATG p.V14M Missense 1/9 - 1
22-22221689-GAC-CCA c.40_42delinsTGG p.V14W Missense 1/9 - 1
22-22221690-AC-CT c.40_41delinsAG p.V14S Missense 1/9 - 1
22-22221690-AC-GT c.40_41inv p.V14T Missense 1/9 - 1
22-22221690-AC-TG c.40_41delinsCA p.V14H Missense 1/9 - 1
22-22221690-A-G c.41T>C p.V14A Missense 1/9 - 1
22-22221690-A-T c.41T>A p.V14D Missense 1/9 - 1
22-22221691-C-A c.40G>T p.V14F Missense 1/9 - 1
22-22221691-C-T c.40G>A p.V14I Missense 1/9 - 1
22-22221692-C-A c.39G>T p.M13I Missense 1/9 - 1
22-22221692-CA-GC c.38_39delinsGC p.M13S Missense 1/9 - 1
22-22221692-CAT-AAA c.37_39delinsTTT p.M13F Missense 1/9 - 2
22-22221692-CAT-ACA c.37_39delinsTGT p.M13C Missense 1/9 - 1
22-22221692-CAT-GTC c.37_39delinsGAC p.M13D Missense 1/9 - 1
22-22221692-C-G c.39G>C p.M13I Missense 1/9 - 1
22-22221692-C-T c.39G>A p.M13I Missense 1/9 - 1
22-22221693-A-C c.38T>G p.M13R Missense 1/9 - 2
22-22221693-A-G c.38T>C p.M13T Missense 1/9 - 1
22-22221693-A-T c.38T>A p.M13K Missense 1/9 - 1
22-22221693-AT-CA c.37_38delinsTG p.M13W Missense 1/9 - 1
22-22221693-AT-CC c.37_38delinsGG p.M13G Missense 1/9 - 1
22-22221694-T-A c.37A>T p.M13L Missense 1/9 - 1
22-22221694-T-C c.37A>G p.M13V Missense 1/9 - 1
22-22221694-T-G c.37A>C p.M13L Missense 1/9 - 1
22-22221695-C-A c.36G>T p.E12D Missense 1/9 - 1
22-22221695-C-G c.36G>C p.E12D Missense 1/9 - 1
22-22221696-T-A c.35A>T p.E12V Missense 1/9 - 1
22-22221696-TC-GT c.34_35delinsAC p.E12T Missense 1/9 - 1
22-22221696-T-G c.35A>C p.E12A Missense 1/9 - 1
22-22221697-C-T c.34G>A p.E12K Missense 1/9 - 1
22-22221698-CCGG-C c.31_33del p.P11del InFrameDeletion 1/9 - 1
22-22221698-CG-AT c.32_33delinsAT p.P11H Missense 1/9 - 1
22-22221698-CGG-ATA c.31_33delinsTAT p.P11Y Missense 1/9 - 1
22-22221698-CGG-GTC c.31_33delinsGAC p.P11D Missense 1/9 - 1
22-22221699-G-A c.32C>T p.P11L Missense 1/9 - 1
22-22221699-GG-CC c.31_32inv p.P11G Missense 1/9 - 1
22-22221700-G-A c.31C>T p.P11S Missense 1/9 - 1
22-22221700-G-C c.31C>G p.P11A Missense 1/9 - 2
22-22221700-G-T c.31C>A p.P11T Missense 1/9 - 1
22-22221701-GCC-CAT c.28_30delinsATG p.G10M Missense 1/9 - 2
22-22221701-GCC-CCA c.28_30delinsTGG p.G10W Missense 1/9 - 1
22-22221701-GCC-CTT c.28_30delinsAAG p.G10K Missense 1/9 - 1
22-22221701-GC-CT c.29_30delinsAG p.G10E Missense 1/9 - 1
22-22221701-GCC-TTG c.28_30delinsCAA p.G10Q Missense 1/9 - 1
22-22221702-C-A c.29G>T p.G10V Missense 1/9 - 1
22-22221702-CC-TG c.28_29delinsCA p.G10H Missense 1/9 - 1
22-22221702-C-T c.29G>A p.G10D Missense 1/9 - 1
22-22221703-C-G c.28G>C p.G10R Missense 1/9 - 2
22-22221705-GCGC-G c.23_25del p.G8del InFrameDeletion 1/9 - 1
22-22221708-C-A c.23G>T p.G8V Missense 1/9 - 1
22-22221711-G-A c.20C>T p.A7V Missense 1/9 - 1
22-22221714-G-T c.17C>A p.A6E Missense 1/9 - 1
22-22221708-CCCGCCG-C c.17_22del p.AA6_?7 InFrameDeletion 1/9 - 2
22-22221725-C-A c.6G>T p.A2= Synonymous 1/9 - 1
22-22221725-C-G c.6G>C p.A2= Synonymous 1/9 - 1
22-22221725-C-T c.6G>A p.A2= Synonymous 1/9 - 1
22-22221708-CCCG-C c.20_22del p.A7? InFrameDeletion 1/9 - 3