HR HR lysine demethylase and nuclear receptor corepressor

Annotation transcript: NM_005144.5

1593 unique variant annotations were identified in 1896 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
8-21973226-T-G c.3557A>C p.Q1186P Missense 19/19 - 1
8-21973232-G-C c.3551C>G p.T1184R Missense 19/19 - 1
8-21973233-T-C c.3550A>G p.T1184A Missense 19/19 - 1
8-21973233-T-G c.3550A>C p.T1184P Missense 19/19 - 1
8-21973234-C-A c.3549G>T p.G1183= Synonymous 19/19 - 1
8-21973239-C-T c.3544G>A p.V1182M Missense 19/19 - 1
8-21973257-G-A c.3526C>T p.Q1176* Nonsense 19/19 - 2
8-21973817-G-A c.3503C>T p.A1168V Missense 18/19 - 1
8-21973831-G-A c.3489C>T p.C1163= Synonymous 18/19 - 1
8-21973831-G-C c.3489C>G p.C1163W Missense 18/19 - 1
8-21973839-G-T c.3481C>A p.P1161T Missense 18/19 - 1
8-21973847-CT-GC c.3472_3473delinsGC p.S1158A Missense 18/19 - 1
8-21973851-G-T c.3469C>A p.P1157T Missense 18/19 - 1
8-21973853-C-G c.3467G>C p.G1156A Missense 18/19 - 1
8-21973857-G-C c.3463C>G p.Q1155E Missense 18/19 - 1
8-21973861-G-C c.3459C>G p.C1153W Missense 18/19 - 1
8-21973862-C-T c.3458G>A p.C1153Y Missense 18/19 - 1
8-21973863-A-G c.3457T>C p.C1153R Missense 18/19 - 1
8-21973881-CAG-C c.3437_3438del p.S1146Cfs*16 Frameshift 18/19 - 1
8-21973885-G-A c.3435C>T p.T1145= Synonymous 18/19 - 7
8-21973890-C-G c.3430G>C p.E1144Q Missense 18/19 - 1
8-21973890-C-T c.3430G>A p.E1144K Missense 18/19 - 1
8-21973893-G-A c.3427C>T p.P1143S Missense 18/19 - 1
8-21973897-GAG-CAT c.3421_3423delinsATG p.L1141M Missense 18/19 - 1
8-21973913-A-T c.3407T>A p.V1136D Missense 18/19 - 4
8-21973914-AC-A c.3406del p.V1136Sfs*43 Frameshift 18/19 - 1
8-21973929-C-T c.3391G>A p.V1131M Missense 18/19 - 1
8-21973929-C-CCTGT c.3390_3391insACAG p.V1131Tfs*15 Frameshift 18/19 - 1
8-21973930-C-CTCTG c.3389_3390insCAGA p.V1131Rfs*15 Frameshift 18/19 - 1
8-21973941-C-T c.3379G>A p.V1127M Missense 18/19 - 1
8-21974392-T-G c.3374A>C p.H1125P Missense 17/19 - 1
8-21974392-T-TG c.3373dup p.H1125Pfs*20 Frameshift 17/19 - 1
8-21974411-C-T c.3355G>A p.V1119M Missense 17/19 - 1
8-21974417-C-T c.3349G>A p.V1117M Missense 17/19 - 1
8-21974431-G-A c.3335C>T p.A1112V Missense 17/19 - 1
8-21974441-G-A c.3325C>T p.L1109= Synonymous 17/19 - 1
8-21974442-G-C c.3324C>G p.T1108= Synonymous 17/19 - 1
8-21974450-A-C c.3316T>G p.C1106G Missense 17/19 - 1
8-21974456-C-A c.3310G>T p.V1104L Missense 17/19 - 3
8-21974456-C-G c.3310G>C p.V1104L Missense 17/19 - 4
8-21974458-C-G c.3308G>C p.G1103A Missense 17/19 - 3
8-21974460-C-A c.3306G>T p.W1102C Missense 17/19 - 1
8-21974460-C-G c.3306G>C p.W1102C Missense 17/19 - 1
8-21974463-C-CT c.3302dup p.W1102Vfs*43 Frameshift 17/19 - 1
8-21974464-T-G c.3302A>C p.E1101A Missense 17/19 - 1
8-21974467-T-G c.3299A>C p.E1100A Missense 17/19 - 1
8-21974479-CG-GC c.3286_3287delinsGC p.R1096A Missense 17/19 - 1
8-21974479-CG-TA c.3286_3287delinsTA p.R1096* Nonsense 17/19 - 1
8-21974506-CT-AG c.3259_3260inv p.S1087L Missense 17/19 - 1
8-21974509-C-T c.3257G>A p.G1086D Missense 17/19 - 1
8-21974520-A-C c.3246T>G p.P1082= Synonymous 17/19 - 1
8-21974520-A-G c.3246T>C p.P1082= Synonymous 17/19 - 1
8-21974520-A-T c.3246T>A p.P1082= Synonymous 17/19 - 1
8-21974524-CT-C c.3242del p.E1081Gfs*24 Frameshift 17/19 - 1
8-21974533-C-G c.3233G>C p.G1078A Missense 17/19 - 1
8-21974533-C-T c.3233G>A p.G1078D Missense 17/19 - 1
8-21974540-C-T c.3226G>A p.G1076R Missense 17/19 - 1
8-21974542-G-C c.3224C>G p.A1075G Missense 17/19 - 1
8-21974544-C-A c.3222G>T p.P1074= Synonymous 17/19 - 1
8-21974544-C-G c.3222G>C p.P1074= Synonymous 17/19 - 1
8-21974544-C-T c.3222G>A p.P1074= Synonymous 17/19 - 1
8-21974547-G-A c.3219C>T p.C1073= Synonymous 17/19 - 1
8-21974548-C-T c.3218G>A p.C1073Y Missense 17/19 - 1
8-21974551-A-G c.3215T>C p.V1072A Missense 17/19 - 1
8-21974552-C-T c.3214G>A p.V1072M Missense 17/19 - 1
8-21974991-T-C c.3214-439A>G - IntronicSNV - 16/18 1
8-21976477-G-T c.3199C>A p.R1067S Missense 16/19 - 1
8-21976479-C-T c.3197G>A p.R1066H Missense 16/19 - 2
8-21976482-AT-GC c.3193_3194delinsGC p.I1065A Missense 16/19 - 1
8-21976491-G-C c.3185C>G p.A1062G Missense 16/19 - 1
8-21976498-G-A c.3178C>T p.Q1060* Nonsense 16/19 - 1
8-21976503-C-T c.3173G>A p.R1058Q Missense 16/19 - 1
8-21976510-C-T c.3166G>A p.V1056M Missense 16/19 - 5
8-21976530-T-TG c.3145dup p.Q1049Pfs*96 Frameshift 16/19 - 1
8-21976539-G-A c.3137C>T p.P1046L Missense 16/19 - 1
8-21976703-AG-GC c.3070_3071delinsGC p.L1024A Missense 15/19 - 1
8-21976710-T-C c.3064A>G p.T1022A Missense 15/19 - 4
8-21976712-T-A c.3062A>T p.D1021V Missense 15/19 - 1
8-21976713-C-T c.3061G>A p.D1021N Missense 15/19 - 1
8-21976740-C-T c.3034G>A p.D1012N Missense 15/19 - 6
8-21976748-T-C c.3026A>G p.E1009G Missense 15/19 - 1
8-21976755-A-C c.3019T>G p.C1007G Missense 15/19 - 1
8-21976754-CAGAGGTTCTTGGTCCCCAGGTGTCCCCGGTGCGGGCTCACACCTGCATGGCAATAGAGA-C c.2978-17_3019del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 15/19 14/18 1
8-21976767-TC-T c.3006del p.T1003Pfs*102 Frameshift 15/19 - 1
8-21976777-TCC-ACA c.2995_2997delinsTGT p.G999C Missense 15/19 - 2
8-21976781-C-T c.2993G>A p.R998Q Missense 15/19 - 1
8-21977281-G-A c.2969C>T p.A990V Missense 14/19 - 1
8-21977281-GC-TT c.2968_2969delinsAA p.A990K Missense 14/19 - 1
8-21977287-AG-CT c.2962_2963inv p.L988S Missense 14/19 - 1
8-21977288-G-A c.2962C>T p.L988F Missense 14/19 - 1
8-21977305-C-T c.2945G>A p.R982H Missense 14/19 - 1
8-21977307-CAG-AAA c.2941_2943delinsTTT p.L981F Missense 14/19 - 11
8-21977307-CAG-GAT c.2941_2943delinsATC p.L981I Missense 14/19 - 1
8-21977308-AG-TT c.2941_2942delinsAA p.L981K Missense 14/19 - 1
8-21977340-G-C c.2910C>G p.N970K Missense 14/19 - 1
8-21977340-G-T c.2910C>A p.N970K Missense 14/19 - 1
8-21977341-T-C c.2909A>G p.N970S Missense 14/19 - 4
8-21977347-T-C c.2903A>G p.K968R Missense 14/19 - 1
8-21977347-TT-GG c.2902_2903delinsCC p.K968P Missense 14/19 - 2
8-21977348-T-A c.2902A>T p.K968* Nonsense 14/19 - 1
8-21977362-C-G c.2888G>C p.C963S Missense 14/19 - 1
8-21977363-A-T c.2887T>A p.C963S Missense 14/19 - 1
8-21977374-AG-CA c.2875_2876delinsTG p.L959C Missense 14/19 - 1
8-21977376-T-C c.2874A>G p.P958= Synonymous 14/19 - 1
8-21977400-C-A c.2850G>T p.V950= Synonymous 14/19 - 1
8-21977617-CT-TG c.2845_2846delinsCA p.R949Q Missense 13/19 - 1
8-21977634-CCC-GCT c.2827_2829delinsAGC p.G943S Missense 13/19 - 1
8-21977644-C-T c.2819G>A p.R940Q Missense 13/19 - 1
8-21977645-G-A c.2818C>T p.R940* Nonsense 13/19 - 1
8-21977664-G-C c.2799C>G p.G933= Synonymous 13/19 - 1
8-21977665-C-G c.2798G>C p.G933A Missense 13/19 - 1
8-21977669-C-T c.2794G>A p.E932K Missense 13/19 - 1
8-21977682-GC-TT c.2780_2781delinsAA p.R927Q Missense 13/19 - 1
8-21977683-CG-GC c.2779_2780delinsGC p.R927A Missense 13/19 - 1
8-21977684-G-A c.2779C>T p.R927C Missense 13/19 - 1
8-21977686-A-C c.2777T>G p.L926R Missense 13/19 - 1
8-21977890-CT-AA c.2740_2741delinsTT p.S914F Missense 12/19 - 1
8-21977893-C-T c.2738G>A p.G913D Missense 12/19 - 1
8-21977894-C-A c.2737G>T p.G913C Missense 12/19 - 1
8-21977898-G-C c.2733C>G p.S911R Missense 12/19 - 1
8-21977898-G-T c.2733C>A p.S911R Missense 12/19 - 1
8-21977900-T-G c.2731A>C p.S911R Missense 12/19 - 1
8-21977899-CT-GC c.2731_2732delinsGC p.S911A Missense 12/19 - 1
8-21977905-G-A c.2726C>T p.P909L Missense 12/19 - 1
8-21977931-C-T c.2700G>A p.A900= Synonymous 12/19 - 1
8-21977936-G-A c.2695C>T p.Q899* Nonsense 12/19 - 1
8-21977941-T-A c.2690A>T p.Q897L Missense 12/19 - 1
8-21977951-G-A c.2680C>T p.L894F Missense 12/19 - 1
8-21977954-C-A c.2677G>T p.A893S Missense 12/19 - 14
8-21977954-C-T c.2677G>A p.A893T Missense 12/19 - 1
8-21977965-T-G c.2666A>C p.E889A Missense 12/19 - 1
8-21977977-A-C c.2654T>G p.L885R Missense 12/19 - 1
8-21977980-T-C c.2651A>G p.N884S Missense 12/19 - 1
8-21977983-C-G c.2648G>C p.G883A Missense 12/19 - 1
8-21977989-AA-TG c.2641_2642delinsCA p.L881Q Missense 12/19 - 1
8-21978007-TGACA-T c.2621_2624del p.V874Efs*27 Frameshift 12/19 - 1
8-21978008-A-C c.2623T>G p.S875A Missense 12/19 - 1
8-21978019-G-A c.2612C>T p.P871L Missense 12/19 - 1
8-21978229-C-G c.2610G>C p.Q870H Missense 11/19 - 1
8-21978231-G-A c.2608C>T p.Q870* Nonsense 11/19 - 1
8-21978239-CT-AG c.2599_2600inv p.R867L Missense 11/19 - 1
8-21978246-G-A c.2593C>T p.H865Y Missense 11/19 - 1
8-21978256-GA-TT c.2582_2583delinsAA p.L861Q Missense 11/19 - 1
8-21978261-G-T c.2578C>A p.H860N Missense 11/19 - 1
8-21978268-ACG-TCA c.2569_2571delinsTGA p.R857* Nonsense 11/19 - 1
8-21978271-CCG-ACA c.2566_2568delinsTGT p.R856C Missense 11/19 - 1
8-21978291-C-T c.2548G>A p.E850K Missense 11/19 - 1
8-21978304-C-A c.2535G>T p.L845F Missense 11/19 - 2
8-21978304-C-G c.2535G>C p.L845F Missense 11/19 - 2
8-21978327-G-A c.2512C>T p.R838W Missense 11/19 - 1
8-21978336-C-A c.2503G>T p.V835L Missense 11/19 - 1
8-21978344-AG-GT c.2494_2495delinsAC p.L832T Missense 11/19 - 1
8-21978347-G-T c.2492C>A p.P831H Missense 11/19 - 1
8-21978353-C-G c.2486G>C p.G829A Missense 11/19 - 1
8-21978360-C-G c.2479G>C p.G827R Missense 11/19 - 1
8-21978372-C-T c.2467G>A p.G823S Missense 11/19 - 1
8-21978374-G-A c.2465C>T p.P822L Missense 11/19 - 2
8-21978375-G-C c.2464C>G p.P822A Missense 11/19 - 1
8-21978378-C-A c.2461G>T p.G821C Missense 11/19 - 1
8-21978400-GG-CT c.2438_2439delinsAG p.A813E Missense 11/19 - 1
8-21978405-T-A c.2434A>T p.K812* Nonsense 11/19 - 1
8-21978406-C-T c.2433G>A p.E811= Synonymous 11/19 - 1
8-21978411-G-A c.2428C>T p.Q810* Nonsense 11/19 - 1
8-21978418-CCG-ACA c.2419_2421delinsTGT p.R807C Missense 11/19 - 1
8-21978420-G-A c.2419C>T p.R807W Missense 11/19 - 1
8-21978426-C-A c.2413G>T p.V805L Missense 11/19 - 1
8-21978426-C-G c.2413G>C p.V805L Missense 11/19 - 1
8-21978428-AC-GA c.2410_2411delinsTC p.V804S Missense 11/19 - 1
8-21978435-C-A c.2404G>T p.A802S Missense 11/19 - 1
8-21978440-A-G c.2399T>C p.I800T Missense 11/19 - 1
8-21978449-AG-TC c.2389_2390delinsGA p.L797E Missense 11/19 - 1
8-21978453-T-C c.2386A>G p.I796V Missense 11/19 - 1
8-21978454-GTT-TTA c.2383_2385delinsTAA p.N795* Nonsense 11/19 - 1
8-21978458-GT-CA c.2380_2381delinsTG p.T794C Missense 11/19 - 1
8-21978465-G-A c.2374C>T p.R792C Missense 11/19 - 1
8-21978469-ATC-CAT c.2368_2370delinsATG p.D790M Missense 11/19 - 1
8-21978470-TC-CG c.2368_2369delinsCG p.D790R Missense 11/19 - 1
8-21978577-C-T c.2367+1G>A - IntronicSNV - 10/18 1
8-21978587-GGCCGGAGTGAC-G c.2347_2357del p.V783Pfs*4 Frameshift 10/19 - 1
8-21978590-C-A c.2355G>T p.P785= Synonymous 10/19 - 1
8-21978590-CCGGAG-C c.2351_2355del p.T784Sfs*5 Frameshift 10/19 - 1
8-21978591-G-A c.2354C>T p.P785L Missense 10/19 - 1
8-21978594-G-A c.2351C>T p.T784I Missense 10/19 - 1
8-21978598-C-G c.2347G>C p.V783L Missense 10/19 - 1
8-21978598-C-T c.2347G>A p.V783I Missense 10/19 - 1
8-21978600-G-A c.2345C>T p.P782L Missense 10/19 - 1
8-21978609-GC-CA c.2335_2336delinsTG p.A779C Missense 10/19 - 1
8-21978620-TC-AT c.2324_2325delinsAT p.R775H Missense 10/19 - 1
8-21978621-CG-GC c.2323_2324delinsGC p.R775A Missense 10/19 - 1
8-21978622-G-GACTCCCCGTTTGCAGACTCACC c.2322_2323insGGTGAGTCTGCAAACGGGGAGT p.R775Gfs*23 Frameshift 10/19 - 1
8-21978643-T-A c.2302A>T p.K768* Nonsense 10/19 - 1
8-21978646-C-G c.2299G>C p.V767L Missense 10/19 - 2
8-21978654-G-A c.2291C>T p.S764F Missense 10/19 - 1
8-21978674-A-C c.2271T>G p.S757= Synonymous 10/19 - 1
8-21978674-A-G c.2271T>C p.S757= Synonymous 10/19 - 1
8-21978674-A-T c.2271T>A p.S757= Synonymous 10/19 - 1
8-21978675-G-A c.2270C>T p.S757F Missense 10/19 - 1
8-21978675-GA-TT c.2269_2270delinsAA p.S757N Missense 10/19 - 1
8-21978682-A-C c.2263T>G p.C755G Missense 10/19 - 1
8-21978692-CCC-GCT c.2251_2253delinsAGC p.G751S Missense 10/19 - 1
8-21978696-C-T c.2249G>A p.R750Q Missense 10/19 - 2
8-21978696-TCGGCCAGCACGGTCC-T c.2235_2249del p.D746_R750del InFrameDeletion 10/19 - 1
8-21978697-G-A c.2248C>T p.R750* Nonsense 10/19 - 1
8-21978699-CC-AA c.2245_2246delinsTT p.G749F Missense 10/19 - 1
8-21978702-G-A c.2243C>T p.A748V Missense 10/19 - 1
8-21978705-C-A c.2240G>T p.R747L Missense 10/19 - 1
8-21978705-CG-GC c.2239_2240delinsGC p.R747A Missense 10/19 - 1
8-21978714-G-T c.2231C>A p.A744E Missense 10/19 - 1
8-21978718-G-A c.2227C>T p.P743S Missense 10/19 - 1
8-21978720-G-C c.2225C>G p.T742S Missense 10/19 - 1
8-21978721-T-A c.2224A>T p.T742S Missense 10/19 - 1
8-21978727-C-A c.2218G>T p.A740S Missense 10/19 - 1
8-21978729-GA-TT c.2215_2216delinsAA p.S739N Missense 10/19 - 1
8-21978730-A-C c.2215T>G p.S739A Missense 10/19 - 1
8-21978737-GGTCTCTGTCAGGGAGGAAGATGGTGGGGGGCTTCGCGTTTGGTCCCTCCTCTTCCCCTC-G c.2204-55_2207del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/19 9/18 2
8-21978739-T-TA c.2205_2206insT p.T736Yfs*6 SpliceAcceptorInsertion 10/19 - 1
8-21978740-C-G c.2205G>C p.E735D Missense 10/19 - 1
8-21978741-T-G c.2204A>C p.E735A Missense 10/19 - 1
8-21979147-T-C c.2182A>G p.R728G Missense 9/19 - 2
8-21979151-GG-CT c.2177_2178delinsAG p.T726K Missense 9/19 - 1
8-21979155-TC-CG c.2173_2174delinsCG p.D725R Missense 9/19 - 1
8-21979156-C-G c.2173G>C p.D725H Missense 9/19 - 1
8-21979156-C-CG c.2172dup p.D725Rfs*17 Frameshift 9/19 - 1
8-21979157-GC-G c.2171del p.G724Afs*178 Frameshift 9/19 - 1
8-21979164-CA-GT c.2164_2165delinsAC p.C722T Missense 9/19 - 3
8-21979166-GG-TT c.2162_2163delinsAA p.S721* Nonsense 9/19 - 1
8-21979172-T-C c.2157A>G p.Q719= Synonymous 9/19 - 1
8-21979173-T-C c.2156A>G p.Q719R Missense 9/19 - 1
8-21979179-GT-AG c.2149_2150delinsCT p.T717L Missense 9/19 - 1
8-21979183-G-A c.2146C>T p.P716S Missense 9/19 - 2
8-21979192-T-A c.2137A>T p.K713* Nonsense 9/19 - 1
8-21980007-TG-GC c.2119_2120delinsGC p.Q707A Missense 8/19 - 1
8-21980031-CA-GC c.2095_2096delinsGC p.W699A Missense 8/19 - 1
8-21980033-TAC-AAA c.2092_2094delinsTTT p.V698F Missense 8/19 - 1
8-21980036-C-G c.2091G>C p.R697= Synonymous 8/19 - 1
8-21980042-ATC-TTA c.2083_2085delinsTAA p.D695* Nonsense 8/19 - 1
8-21980047-C-A c.2080G>T p.A694S Missense 8/19 - 1
8-21980050-G-A c.2077C>T p.Q693* Nonsense 8/19 - 1
8-21980058-C-G c.2069G>C p.C690S Missense 8/19 - 1
8-21980059-A-T c.2068T>A p.C690S Missense 8/19 - 1
8-21980061-TG-GC c.2065_2066delinsGC p.H689A Missense 8/19 - 1
8-21980065-C-A c.2062G>T p.G688W Missense 8/19 - 1
8-21980067-C-T c.2060G>A p.R687Q Missense 8/19 - 1
8-21980076-A-G c.2051T>C p.F684S Missense 8/19 - 1
8-21980077-A-T c.2050T>A p.F684I Missense 8/19 - 1
8-21980082-AC-CT c.2044_2045delinsAG p.V682S Missense 8/19 - 1
8-21980083-C-G c.2044G>C p.V682L Missense 8/19 - 1
8-21980090-C-T c.2037G>A p.Q679= Synonymous 8/19 - 1
8-21980100-G-C c.2027C>G p.A676G Missense 8/19 - 1
8-21980104-T-C c.2023A>G p.T675A Missense 8/19 - 3
8-21980106-C-A c.2021G>T p.S674I Missense 8/19 - 1
8-21980106-CT-GC c.2020_2021delinsGC p.S674A Missense 8/19 - 4
8-21980106-CT-TC c.2020_2021delinsGA p.S674D Missense 8/19 - 1
8-21980106-GC-G c.2021del p.S674Tfs*228 Frameshift 8/19 - 1
8-21980108-CA-AT c.2018_2019delinsAT p.L673H Missense 8/19 - 1
8-21980109-AG-CC c.2017_2018delinsGG p.L673G Missense 8/19 - 1
8-21980303-C-A c.2005G>T p.A669S Missense 7/19 - 1
8-21980321-G-T c.1987C>A p.Q663K Missense 7/19 - 1
8-21980323-G-C c.1985C>G p.T662S Missense 7/19 - 1
8-21980324-T-A c.1984A>T p.T662S Missense 7/19 - 1
8-21980328-C-CAACA c.1979_1980insTGTT p.M660Ifs*27 Frameshift 7/19 - 1
8-21980341-G-A c.1967C>T p.A656V Missense 7/19 - 1
8-21980342-C-A c.1966G>T p.A656S Missense 7/19 - 2
8-21980344-G-C c.1964C>G p.A655G Missense 7/19 - 1
8-21980346-G-GT c.1961dup p.H654Qfs*32 Frameshift 7/19 - 1
8-21980347-TG-CA c.1960_1961inv p.H654C Missense 7/19 - 1
8-21980356-TC-GA c.1951_1952inv p.E651S Missense 7/19 - 1
8-21980362-GT-AC c.1945_1946inv p.T649V Missense 7/19 - 1
8-21980363-T-C c.1945A>G p.T649A Missense 7/19 - 1
8-21980368-T-G c.1940A>C p.E647A Missense 7/19 - 1
8-21980372-C-CA c.1935_1936insT p.E646* Nonsense 7/19 - 1
8-21980372-C-G c.1936G>C p.E646Q Missense 7/19 - 1
8-21980371-TC-T c.1936del p.E646Rfs*14 Frameshift 7/19 - 1
8-21980373-C-CG c.1934dup p.E646Gfs*40 Frameshift 7/19 - 1
8-21980374-GC-AG c.1933_1934delinsCT p.A645L Missense 7/19 - 1
8-21980378-A-C c.1930T>G p.S644A Missense 7/19 - 1
8-21980383-TC-CT c.1924_1925delinsAG p.E642R Missense 7/19 - 1
8-21981162-C-A c.1915G>T p.G639C Missense 6/19 - 1
8-21981162-C-T c.1915G>A p.G639S Missense 6/19 - 1
8-21981169-C-A c.1908G>T p.E636D Missense 6/19 - 1
8-21981169-C-G c.1908G>C p.E636D Missense 6/19 - 1
8-21981173-C-T c.1904G>A p.R635K Missense 6/19 - 1
8-21981179-CG-TA c.1897_1898delinsTA p.R633* Nonsense 6/19 - 1
8-21981177-CCCG-C c.1897_1899del p.R633del InFrameDeletion 6/19 - 1
8-21981187-G-A c.1890C>T p.G630= Synonymous 6/19 - 1
8-21981194-AC-GA c.1882_1883delinsTC p.V628S Missense 6/19 - 1
8-21981195-AC-A c.1882del p.V628Wfs*32 Frameshift 6/19 - 1
8-21981201-C-T c.1876G>A p.G626S Missense 6/19 - 1
8-21981203-C-T c.1874G>A p.C625Y Missense 6/19 - 1
8-21981207-C-A c.1870G>T p.A624S Missense 6/19 - 1
8-21981210-C-A c.1867G>T p.V623L Missense 6/19 - 1
8-21981210-C-G c.1867G>C p.V623L Missense 6/19 - 1
8-21981213-A-C c.1864T>G p.C622G Missense 6/19 - 3
8-21981218-C-T c.1859G>A p.R620Q Missense 6/19 - 3
8-21981219-G-A c.1858C>T p.R620W Missense 6/19 - 1
8-21981227-CA-GC c.1849_1850delinsGC p.C617A Missense 6/19 - 1
8-21981227-CA-GT c.1849_1850delinsAC p.C617T Missense 6/19 - 1
8-21981228-A-C c.1849T>G p.C617G Missense 6/19 - 1
8-21981236-CA-GT c.1840_1841delinsAC p.C614T Missense 6/19 - 1
8-21981239-C-T c.1838G>A p.R613Q Missense 6/19 - 1
8-21981245-T-C c.1832A>G p.H611R Missense 6/19 - 3
8-21981245-TG-GC c.1831_1832delinsGC p.H611A Missense 6/19 - 1
8-21981246-G-T c.1831C>A p.H611N Missense 6/19 - 1
8-21981248-G-A c.1829C>T p.T610I Missense 6/19 - 2
8-21981249-T-C c.1828A>G p.T610A Missense 6/19 - 1
8-21981250-G-A c.1827C>T p.N609= Synonymous 6/19 - 1
8-21981253-G-A c.1824C>T p.F608= Synonymous 6/19 - 2
8-21981257-A-G c.1820T>C p.L607P Missense 6/19 - 1
8-21981258-G-T c.1819C>A p.L607I Missense 6/19 - 1
8-21981260-C-G c.1817G>C p.G606A Missense 6/19 - 1
8-21981261-C-T c.1816G>A p.G606R Missense 6/19 - 1
8-21981262-A-C c.1815T>G p.H605Q Missense 6/19 - 1
8-21981262-A-T c.1815T>A p.H605Q Missense 6/19 - 1
8-21981267-G-A c.1810C>T p.H604Y Missense 6/19 - 2
8-21981275-C-G c.1802G>C p.S601T Missense 6/19 - 1
8-21981281-C-T c.1796G>A p.C599Y Missense 6/19 - 1
8-21981287-G-A c.1790C>T p.P597L Missense 6/19 - 1
8-21981288-G-A c.1789C>T p.P597S Missense 6/19 - 1
8-21981294-C-G c.1783G>C p.G595R Missense 6/19 - 2
8-21981299-CT-GC c.1777_1778delinsGC p.S593A Missense 6/19 - 1
8-21981305-T-C c.1772A>G p.E591G Missense 6/19 - 2
8-21981314-GC-AT c.1762_1763delinsAT p.A588I Missense 6/19 - 1
8-21981315-C-T c.1762G>A p.A588T Missense 6/19 - 1
8-21981316-T-A c.1761A>T p.P587= Synonymous 6/19 - 1
8-21981316-T-C c.1761A>G p.P587= Synonymous 6/19 - 1
8-21981316-T-G c.1761A>C p.P587= Synonymous 6/19 - 1
8-21981318-G-A c.1759C>T p.P587S Missense 6/19 - 2
8-21981320-C-G c.1757G>C p.G586A Missense 6/19 - 1
8-21981324-G-A c.1753C>T p.Q585* Nonsense 6/19 - 1
8-21982822-A-G c.1750+2T>C - IntronicSNV - 5/18 1
8-21982825-T-A c.1749A>T p.E583D Missense 5/19 - 4
8-21982825-T-G c.1749A>C p.E583D Missense 5/19 - 4
8-21982825-TTC-CAT c.1747_1749delinsATG p.E583M Missense 5/19 - 2
8-21982826-T-A c.1748A>T p.E583V Missense 5/19 - 2
8-21982827-C-T c.1747G>A p.E583K Missense 5/19 - 1
8-21982829-CG-TC c.1744_1745delinsGA p.R582E Missense 5/19 - 1
8-21982829-C-T c.1745G>A p.R582Q Missense 5/19 - 1
8-21982836-C-A c.1738G>T p.A580S Missense 5/19 - 1
8-21982842-C-A c.1732G>T p.A578S Missense 5/19 - 1
8-21982842-C-T c.1732G>A p.A578T Missense 5/19 - 1
8-21982842-CCAGGGCCTCCCGCTCCCTCCG-C c.1711_1731del p.R571_L577del InFrameDeletion 5/19 - 1
8-21982847-G-A c.1727C>T p.A576V Missense 5/19 - 2
8-21982849-CTCCCGCTCCCTCCGCAGCAGGCGG-ACAA c.1701_1725delinsTTGT p.R568_E575delinsC MultiAAMissense 5/19 - 1
8-21982850-T-G c.1724A>C p.E575A Missense 5/19 - 1
8-21982851-C-G c.1723G>C p.E575Q Missense 5/19 - 1
8-21982853-C-A c.1721G>T p.R574L Missense 5/19 - 1
8-21982855-C-A c.1719G>T p.E573D Missense 5/19 - 1
8-21982855-C-G c.1719G>C p.E573D Missense 5/19 - 1
8-21982857-C-G c.1717G>C p.E573Q Missense 5/19 - 1
8-21982857-CCCTCCGCAGCAGGCGGCACAGTCGGTCCCCCAAACCACTGAGCAGGTG-C c.1669_1716del p.H557_R572del InFrameDeletion 5/19 - 1
8-21982859-CT-GG c.1714_1715delinsCC p.R572P Missense 5/19 - 1
8-21982861-CCG-ACA c.1711_1713delinsTGT p.R571C Missense 5/19 - 2
8-21982862-CG-TA c.1711_1712delinsTA p.R571* Nonsense 5/19 - 1
8-21982865-AG-GC c.1708_1709delinsGC p.L570A Missense 5/19 - 1
8-21982868-AG-GA c.1705_1706delinsTC p.L569S Missense 5/19 - 1
8-21982876-CAG-GAT c.1696_1698delinsATC p.L566I Missense 5/19 - 1
8-21982878-G-C c.1696C>G p.L566V Missense 5/19 - 1
8-21982880-C-A c.1694G>T p.R565L Missense 5/19 - 1
8-21982880-CG-GC c.1693_1694delinsGC p.R565A Missense 5/19 - 2
8-21982880-CG-TC c.1693_1694delinsGA p.R565E Missense 5/19 - 1
8-21982880-CG-TT c.1693_1694delinsAA p.R565K Missense 5/19 - 1
8-21982886-C-CGGTG c.1687_1688insCACC p.G563Afs*124 Frameshift 5/19 - 1
8-21982890-AACC-A c.1681_1683del p.G561del InFrameDeletion 5/19 - 1
8-21982894-CACTGAGCAGGTG-C c.1669_1680del p.H557_S560del InFrameDeletion 5/19 - 1
8-21982894-CACTGAGCAGGTGCTT-C c.1666_1680del p.K556_S560del InFrameDeletion 5/19 - 1
8-21982895-C-T c.1679G>A p.S560N Missense 5/19 - 1
8-21982898-AG-TC c.1675_1676delinsGA p.L559D Missense 5/19 - 1
8-21982900-CAGGTGCTTGGCGAGGC-TTCAG c.1658_1674delinsCTGAA p.G553_L558delinsAE MultiAAMissense 5/19 - 1
8-21982900-C-CGGA c.1673_1674insTCC p.L558_L559insP InFrameInsertion 5/19 - 1
8-21982898-AGCAGGT-A c.1670_1675del p.H557_L558del InFrameDeletion 5/19 - 1
8-21982901-AG-GC c.1672_1673delinsGC p.L558A Missense 5/19 - 1
8-21982912-G-A c.1662C>T p.L554= Synonymous 5/19 - 1
8-21982912-G-C c.1662C>G p.L554= Synonymous 5/19 - 1
8-21982912-G-T c.1662C>A p.L554= Synonymous 5/19 - 1
8-21982916-CC-AT c.1657_1658delinsAT p.G553I Missense 5/19 - 1
8-21982917-C-A c.1657G>T p.G553C Missense 5/19 - 1
8-21982928-C-T c.1646G>A p.R549Q Missense 5/19 - 1
8-21982932-T-A c.1642A>T p.S548C Missense 5/19 - 1
8-21982939-GCCGGACCCTGGGCCTTC-G c.1618_1634del p.E540Pfs*2 Frameshift 5/19 - 1
8-21982941-C-T c.1633G>A p.G545S Missense 5/19 - 3
8-21982942-GG-TT c.1631_1632delinsAA p.S544* Nonsense 5/19 - 1
8-21982945-CCC-GCT c.1627_1629delinsAGC p.G543S Missense 5/19 - 1
8-21982947-C-T c.1627G>A p.G543R Missense 5/19 - 1
8-21982950-G-A c.1624C>T p.P542S Missense 5/19 - 1
8-21982953-C-G c.1621G>C p.G541R Missense 5/19 - 1
8-21982956-C-T c.1618G>A p.E540K Missense 5/19 - 1
8-21982960-AGA-CTC c.1612_1614delinsGAG p.S538E Missense 5/19 - 1
8-21982961-G-C c.1613C>G p.S538C Missense 5/19 - 1
8-21982962-A-C c.1612T>G p.S538A Missense 5/19 - 1
8-21982964-C-T c.1610G>A p.S537N Missense 5/19 - 1
8-21982964-CT-AG c.1609_1610inv p.S537L Missense 5/19 - 1
8-21982964-CT-GG c.1609_1610delinsCC p.S537P Missense 5/19 - 1
8-21982965-T-A c.1609A>T p.S537C Missense 5/19 - 1
8-21982966-G-A c.1608C>T p.S536= Synonymous 5/19 - 2
8-21982968-A-G c.1606T>C p.S536P Missense 5/19 - 2
8-21982968-A-T c.1606T>A p.S536T Missense 5/19 - 1
8-21982973-G-T c.1601C>A p.T534N Missense 5/19 - 1
8-21982979-GT-TG c.1594_1595delinsCA p.T532Q Missense 5/19 - 1
8-21982988-T-G c.1586A>C p.E529A Missense 5/19 - 4
8-21982989-C-T c.1585G>A p.E529K Missense 5/19 - 1
8-21982992-G-C c.1582C>G p.Q528E Missense 5/19 - 1
8-21982997-A-G c.1577T>C p.L526P Missense 5/19 - 1
8-21983013-G-T c.1561C>A p.P521T Missense 5/19 - 1
8-21983095-C-T c.1556G>A p.R519K Missense 4/19 - 1
8-21983098-CG-GC c.1552_1553delinsGC p.R518A Missense 4/19 - 1
8-21983098-C-T c.1553G>A p.R518Q Missense 4/19 - 2
8-21983100-CAC-ACA c.1549_1551delinsTGT p.V517C Missense 4/19 - 2
8-21983110-G-C c.1541C>G p.S514C Missense 4/19 - 1
8-21983111-A-C c.1540T>G p.S514A Missense 4/19 - 1
8-21983113-T-C c.1538A>G p.H513R Missense 4/19 - 2
8-21983114-G-A c.1537C>T p.H513Y Missense 4/19 - 1
8-21983116-CA-GT c.1534_1535delinsAC p.C512T Missense 4/19 - 1
8-21983119-G-A c.1532C>T p.A511V Missense 4/19 - 2
8-21983120-C-A c.1531G>T p.A511S Missense 4/19 - 1
8-21983122-TG-GC c.1528_1529delinsGC p.H510A Missense 4/19 - 2
8-21983123-G-A c.1528C>T p.H510Y Missense 4/19 - 1
8-21983125-C-G c.1526G>C p.G509A Missense 4/19 - 1
8-21983128-CC-AG c.1522_1523delinsCT p.G508L Missense 4/19 - 1
8-21983128-CC-AT c.1522_1523delinsAT p.G508I Missense 4/19 - 1
8-21983128-C-G c.1523G>C p.G508A Missense 4/19 - 1
8-21983138-C-G c.1513G>C p.G505R Missense 4/19 - 2
8-21983138-C-T c.1513G>A p.G505R Missense 4/19 - 2
8-21983140-G-A c.1511C>T p.A504V Missense 4/19 - 1
8-21983140-GC-CA c.1510_1511delinsTG p.A504C Missense 4/19 - 1
8-21983142-TGC-ACA c.1507_1509delinsTGT p.A503C Missense 4/19 - 1
8-21983149-GC-CA c.1501_1502delinsTG p.A501C Missense 4/19 - 2
8-21983150-C-A c.1501G>T p.A501S Missense 4/19 - 1
8-21983152-C-A c.1499G>T p.C500F Missense 4/19 - 1
8-21983153-A-C c.1498T>G p.C500G Missense 4/19 - 1
8-21983153-A-G c.1498T>C p.C500R Missense 4/19 - 1
8-21983155-C-T c.1496G>A p.S499N Missense 4/19 - 1
8-21983155-CT-AA c.1495_1496delinsTT p.S499F Missense 4/19 - 1
8-21983155-CT-GG c.1495_1496delinsCC p.S499P Missense 4/19 - 1
8-21983157-T-A c.1494A>T p.Q498H Missense 4/19 - 6
8-21983157-T-G c.1494A>C p.Q498H Missense 4/19 - 6
8-21983157-TTG-ATA c.1492_1494delinsTAT p.Q498Y Missense 4/19 - 2
8-21983157-TTG-CCA c.1492_1494delinsTGG p.Q498W Missense 4/19 - 1
8-21983158-T-C c.1493A>G p.Q498R Missense 4/19 - 15
8-21983158-TG-GC c.1492_1493delinsGC p.Q498A Missense 4/19 - 1
8-21983168-C-T c.1483G>A p.A495T Missense 4/19 - 1
8-21983172-TTT-ATA c.1477_1479delinsTAT p.K493Y Missense 4/19 - 1
8-21983173-T-C c.1478A>G p.K493R Missense 4/19 - 1
8-21983175-T-C c.1476A>G p.A492= Synonymous 4/19 - 1
8-21983182-AG-GC c.1468_1469delinsGC p.L490A Missense 4/19 - 1
8-21983187-CAG-AAA c.1462_1464delinsTTT p.L488F Missense 4/19 - 1
8-21983200-T-A c.1451A>T p.D484V Missense 4/19 - 1
8-21983218-T-C c.1433A>G p.Q478R Missense 4/19 - 1
8-21983221-A-T c.1430T>A p.L477H Missense 4/19 - 1
8-21983226-G-A c.1425C>T p.A475= Synonymous 4/19 - 1
8-21983226-G-C c.1425C>G p.A475= Synonymous 4/19 - 1
8-21983226-GGC-CTT c.1423_1425delinsAAG p.A475K Missense 4/19 - 1
8-21983226-G-T c.1425C>A p.A475= Synonymous 4/19 - 1
8-21983227-G-A c.1424C>T p.A475V Missense 4/19 - 11
8-21983227-GC-CG c.1423_1424delinsCG p.A475R Missense 4/19 - 2
8-21983230-T-G c.1421A>C p.Q474P Missense 4/19 - 1
8-21983233-C-G c.1418G>C p.G473A Missense 4/19 - 1
8-21983235-ATC-TTA c.1414_1416delinsTAA p.D472* Nonsense 4/19 - 1
8-21983245-C-A c.1406G>T p.G469V Missense 4/19 - 1
8-21984550-C-G c.1405G>C p.G469R Missense 3/19 - 1
8-21984550-C-T c.1405G>A p.G469R Missense 3/19 - 1
8-21984556-G-A c.1399C>T p.Q467* Nonsense 3/19 - 1
8-21984558-T-G c.1397A>C p.E466A Missense 3/19 - 1
8-21984561-T-G c.1394A>C p.D465A Missense 3/19 - 2
8-21984564-TG-GC c.1390_1391delinsGC p.H464A Missense 3/19 - 1
8-21984569-TCC-ACA c.1384_1386delinsTGT p.G462C Missense 3/19 - 1
8-21984570-C-A c.1385G>T p.G462V Missense 3/19 - 1
8-21984574-A-C c.1381T>G p.S461A Missense 3/19 - 1
8-21984576-T-A c.1379A>T p.D460V Missense 3/19 - 5
8-21984576-T-G c.1379A>C p.D460A Missense 3/19 - 1
8-21984580-C-A c.1375G>T p.V459L Missense 3/19 - 1
8-21984580-C-G c.1375G>C p.V459L Missense 3/19 - 1
8-21984582-T-C c.1373A>G p.D458G Missense 3/19 - 1
8-21984585-T-C c.1370A>G p.K457R Missense 3/19 - 1
8-21984585-TT-GC c.1369_1370delinsGC p.K457A Missense 3/19 - 1
8-21984591-C-G c.1364G>C p.G455A Missense 3/19 - 3
8-21984592-C-G c.1363G>C p.G455R Missense 3/19 - 1
8-21984592-C-T c.1363G>A p.G455R Missense 3/19 - 1
8-21984606-CG-GC c.1348_1349delinsGC p.R450A Missense 3/19 - 2
8-21984607-G-C c.1348C>G p.R450G Missense 3/19 - 1
8-21984612-T-G c.1343A>C p.E448A Missense 3/19 - 1
8-21984615-T-G c.1340A>C p.Q447P Missense 3/19 - 2
8-21984624-C-G c.1331G>C p.G444A Missense 3/19 - 1
8-21984627-GC-AG c.1327_1328delinsCT p.A443L Missense 3/19 - 1
8-21984630-C-G c.1325G>C p.G442A Missense 3/19 - 1
8-21984636-T-G c.1319A>C p.E440A Missense 3/19 - 1
8-21984638-TG-GT c.1316_1317delinsAC p.A439D Missense 3/19 - 1
8-21984639-GC-AG c.1315_1316delinsCT p.A439L Missense 3/19 - 1
8-21984642-GT-CA c.1312_1313delinsTG p.T438C Missense 3/19 - 1
8-21984648-G-A c.1307C>T p.P436L Missense 3/19 - 2
8-21984650-AA-CC c.1304_1305delinsGG p.F435W Missense 3/19 - 2
8-21984650-A-G c.1305T>C p.F435= Synonymous 3/19 - 1
8-21984659-CG-C c.1295del p.P432Rfs*23 Frameshift 3/19 - 1
8-21984663-G-A c.1292C>T p.P431L Missense 3/19 - 1
8-21984669-T-G c.1286A>C p.K429T Missense 3/19 - 1
8-21984673-G-A c.1282C>T p.P428S Missense 3/19 - 1
8-21984679-G-C c.1276C>G p.P426A Missense 3/19 - 1
8-21984681-C-G c.1274G>C p.S425T Missense 3/19 - 1
8-21984681-CT-GC c.1273_1274delinsGC p.S425A Missense 3/19 - 1
8-21984681-CT-TC c.1273_1274delinsGA p.S425D Missense 3/19 - 1
8-21984682-T-A c.1273A>T p.S425C Missense 3/19 - 1
8-21984690-G-A c.1265C>T p.A422V Missense 3/19 - 3
8-21984691-C-A c.1264G>T p.A422S Missense 3/19 - 2
8-21984694-C-G c.1261G>C p.G421R Missense 3/19 - 1
8-21984694-C-T c.1261G>A p.G421R Missense 3/19 - 1
8-21984696-TG-GA c.1258_1259delinsTC p.Q420S Missense 3/19 - 1
8-21984700-C-G c.1255G>C p.V419L Missense 3/19 - 1
8-21984702-T-G c.1253A>C p.E418A Missense 3/19 - 1
8-21984706-G-A c.1249C>T p.P417S Missense 3/19 - 1
8-21984710-G-T c.1245C>A p.G415= Synonymous 3/19 - 1
8-21984711-C-T c.1244G>A p.G415D Missense 3/19 - 1
8-21984712-C-T c.1243G>A p.G415S Missense 3/19 - 1
8-21984715-C-A c.1240G>T p.A414S Missense 3/19 - 1
8-21984715-C-T c.1240G>A p.A414T Missense 3/19 - 1
8-21984726-G-A c.1229C>T p.A410V Missense 3/19 - 1
8-21984727-C-T c.1228G>A p.A410T Missense 3/19 - 1
8-21984728-CCG-GTC c.1225_1227delinsGAC p.R409D Missense 3/19 - 1
8-21984729-CG-GC c.1225_1226delinsGC p.R409A Missense 3/19 - 1
8-21984729-CG-TT c.1225_1226delinsAA p.R409K Missense 3/19 - 1
8-21984734-CCG-GAT c.1219_1221delinsATC p.R407I Missense 3/19 - 1
8-21984734-CCG-GTC c.1219_1221delinsGAC p.R407D Missense 3/19 - 1
8-21984739-C-A c.1216G>T p.A406S Missense 3/19 - 1
8-21984739-C-T c.1216G>A p.A406T Missense 3/19 - 1
8-21984742-C-G c.1213G>C p.V405L Missense 3/19 - 1
8-21984747-C-T c.1208G>A p.R403K Missense 3/19 - 1
8-21984747-CT-AG c.1207_1208inv p.R403L Missense 3/19 - 2
8-21984747-CT-GC c.1207_1208delinsGC p.R403A Missense 3/19 - 1
8-21984747-CT-TG c.1207_1208delinsCA p.R403Q Missense 3/19 - 8
8-21984756-A-C c.1199T>G p.V400G Missense 3/19 - 1
8-21984756-AC-CT c.1198_1199delinsAG p.V400S Missense 3/19 - 1
8-21984756-AC-GG c.1198_1199delinsCC p.V400P Missense 3/19 - 1
8-21984759-TC-CT c.1195_1196delinsAG p.E399R Missense 3/19 - 1
8-21984760-C-T c.1195G>A p.E399K Missense 3/19 - 1
8-21984762-G-A c.1193C>T p.P398L Missense 3/19 - 1
8-21984765-CA-GC c.1189_1190delinsGC p.C397A Missense 3/19 - 1
8-21984765-C-T c.1190G>A p.C397Y Missense 3/19 - 2
8-21984765-C-G c.1190G>C p.C397S Missense 3/19 - 1
8-21984766-A-T c.1189T>A p.C397S Missense 3/19 - 1
8-21984768-C-T c.1187G>A p.G396D Missense 3/19 - 8
8-21984769-C-G c.1186G>C p.G396R Missense 3/19 - 1
8-21984770-GC-TT c.1184_1185delinsAA p.R395Q Missense 3/19 - 1
8-21984772-G-A c.1183C>T p.R395C Missense 3/19 - 1
8-21984780-T-G c.1175A>C p.E392A Missense 3/19 - 1
8-21984781-C-G c.1174G>C p.E392Q Missense 3/19 - 1
8-21984783-AA-GC c.1171_1172delinsGC p.F391A Missense 3/19 - 1
8-21984785-C-A c.1170G>T p.Q390H Missense 3/19 - 1
8-21984785-C-G c.1170G>C p.Q390H Missense 3/19 - 1
8-21984785-CTG-GTC c.1168_1170delinsGAC p.Q390D Missense 3/19 - 1
8-21984786-T-G c.1169A>C p.Q390P Missense 3/19 - 1
8-21984787-G-T c.1168C>A p.Q390K Missense 3/19 - 1
8-21984800-TG-GT c.1154_1155delinsAC p.T385N Missense 3/19 - 1
8-21984801-G-A c.1154C>T p.T385I Missense 3/19 - 2
8-21984803-GAG-CAT c.1150_1152delinsATG p.L384M Missense 3/19 - 7
8-21984811-T-C c.1144A>G p.T382A Missense 3/19 - 1
8-21984818-CAG-AAA c.1135_1137delinsTTT p.L379F Missense 3/19 - 1
8-21984820-G-A c.1135C>T p.L379= Synonymous 3/19 - 1
8-21984821-C-A c.1134G>T p.K378N Missense 3/19 - 1
8-21984821-C-G c.1134G>C p.K378N Missense 3/19 - 1
8-21984822-T-C c.1133A>G p.K378R Missense 3/19 - 4
8-21984822-TT-GC c.1132_1133delinsGC p.K378A Missense 3/19 - 2
8-21984823-T-C c.1132A>G p.K378E Missense 3/19 - 1
8-21984823-T-G c.1132A>C p.K378Q Missense 3/19 - 1
8-21984826-T-C c.1129A>G p.T377A Missense 3/19 - 1
8-21984828-TG-GC c.1126_1127delinsGC p.H376A Missense 3/19 - 2
8-21984830-GTG-CCA c.1123_1125delinsTGG p.H375W Missense 3/19 - 1
8-21984830-GTG-TTA c.1123_1125delinsTAA p.H375* Nonsense 3/19 - 1
8-21984831-T-C c.1124A>G p.H375R Missense 3/19 - 1
8-21984831-T-G c.1124A>C p.H375P Missense 3/19 - 1
8-21984831-TG-CA c.1123_1124inv p.H375C Missense 3/19 - 1
8-21984831-TG-CC c.1123_1124delinsGG p.H375G Missense 3/19 - 2
8-21984831-TG-GC c.1123_1124delinsGC p.H375A Missense 3/19 - 1
8-21984832-G-T c.1123C>A p.H375N Missense 3/19 - 1
8-21984834-CT-GC c.1120_1121delinsGC p.S374A Missense 3/19 - 2
8-21984834-CT-GG c.1120_1121delinsCC p.S374P Missense 3/19 - 1
8-21984838-G-C c.1117C>G p.P373A Missense 3/19 - 1
8-21984841-G-A c.1114C>T p.P372S Missense 3/19 - 1
8-21984841-G-T c.1114C>A p.P372T Missense 3/19 - 1
8-21984847-C-A c.1108G>T p.A370S Missense 3/19 - 1
8-21984848-CCT-ACA c.1105_1107delinsTGT p.R369C Missense 3/19 - 1
8-21984853-G-A c.1102C>T p.P368S Missense 3/19 - 1
8-21984855-C-A c.1100G>T p.G367V Missense 3/19 - 1
8-21984854-GC-G c.1100del p.G367Afs*13 Frameshift 3/19 - 1
8-21984858-GA-AC c.1096_1097delinsGT p.S366V Missense 3/19 - 1
8-21984858-GA-AT c.1096_1097delinsAT p.S366I Missense 3/19 - 1
8-21984858-GA-TC c.1096_1097inv p.S366D Missense 3/19 - 1
8-21984859-A-C c.1096T>G p.S366A Missense 3/19 - 1
8-21984866-G-A c.1089C>T p.N363= Synonymous 3/19 - 1
8-21984867-T-C c.1088A>G p.N363S Missense 3/19 - 5
8-21984867-TT-GC c.1087_1088delinsGC p.N363A Missense 3/19 - 2
8-21984869-CAC-GAT c.1084_1086delinsATC p.V362I Missense 3/19 - 1
8-21984871-C-A c.1084G>T p.V362L Missense 3/19 - 1
8-21984871-C-G c.1084G>C p.V362L Missense 3/19 - 1
8-21984873-T-C c.1082A>G p.E361G Missense 3/19 - 1
8-21984875-C-A c.1080G>T p.E360D Missense 3/19 - 1
8-21984875-C-G c.1080G>C p.E360D Missense 3/19 - 1
8-21984879-C-T c.1076G>A p.S359N Missense 3/19 - 1
8-21984879-CT-AC c.1075_1076delinsGT p.S359V Missense 3/19 - 1
8-21984880-TG-T c.1074del p.S359Afs*4 Frameshift 3/19 - 1
8-21984884-T-A c.1071A>T p.E357D Missense 3/19 - 1
8-21984884-T-G c.1071A>C p.E357D Missense 3/19 - 1
8-21984885-T-G c.1070A>C p.E357A Missense 3/19 - 1
8-21984886-C-G c.1069G>C p.E357Q Missense 3/19 - 1
8-21984886-C-T c.1069G>A p.E357K Missense 3/19 - 1
8-21984890-GG-CT c.1064_1065delinsAG p.A355E Missense 3/19 - 1
8-21984891-GC-CA c.1063_1064delinsTG p.A355C Missense 3/19 - 1
8-21984894-C-G c.1061G>C p.G354A Missense 3/19 - 2
8-21984897-CT-GC c.1057_1058delinsGC p.S353A Missense 3/19 - 1
8-21984900-G-T c.1055C>A p.A352D Missense 3/19 - 1
8-21984900-G-GC c.1054dup p.A352Gfs*41 Frameshift 3/19 - 1
8-21984905-CC-GT c.1049_1050delinsAC p.G350D Missense 3/19 - 1
8-21984906-C-CA c.1048_1049insT p.G350Vfs*43 Frameshift 3/19 - 1
8-21984906-CC-GT c.1048_1049delinsAC p.G350T Missense 3/19 - 2
8-21984906-C-G c.1049G>C p.G350A Missense 3/19 - 1
8-21984910-C-A c.1045G>T p.E349* Nonsense 3/19 - 1
8-21984911-CAG-AAA c.1042_1044delinsTTT p.L348F Missense 3/19 - 1
8-21984912-A-G c.1043T>C p.L348P Missense 3/19 - 2
8-21984916-C-G c.1039G>C p.G347R Missense 3/19 - 1
8-21984918-T-A c.1037A>T p.E346V Missense 3/19 - 1
8-21984921-TG-GC c.1033_1034delinsGC p.Q345A Missense 3/19 - 1
8-21984924-CA-GC c.1030_1031delinsGC p.C344A Missense 3/19 - 1
8-21984924-CA-GT c.1030_1031delinsAC p.C344T Missense 3/19 - 2
8-21984928-T-C c.1027A>G p.K343E Missense 3/19 - 1
8-21984933-CA-AG c.1021_1022delinsCT p.C341L Missense 3/19 - 1
8-21984933-CA-GT c.1021_1022delinsAC p.C341T Missense 3/19 - 2
8-21984933-C-T c.1022G>A p.C341Y Missense 3/19 - 1
8-21984934-A-C c.1021T>G p.C341G Missense 3/19 - 2
8-21984937-G-A c.1018C>T p.P340S Missense 3/19 - 1
8-21984938-GC-CT c.1016_1017delinsAG p.G339E Missense 3/19 - 1
8-21984939-C-T c.1016G>A p.G339D Missense 3/19 - 18
8-21984940-C-T c.1015G>A p.G339S Missense 3/19 - 3
8-21984945-C-T c.1010G>A p.G337D Missense 3/19 - 3
8-21984946-C-G c.1009G>C p.G337R Missense 3/19 - 1
8-21984944-AC-A c.1010del p.G337Vfs*26 Frameshift 3/19 - 1
8-21984950-AC-A c.1004del p.G335Vfs*28 Frameshift 3/19 - 1
8-21984956-AG-CC c.998_999delinsGG p.T333R Missense 3/19 - 1
8-21984957-GT-AG c.997_998delinsCT p.T333L Missense 3/19 - 1
8-21984957-GT-TG c.997_998delinsCA p.T333H Missense 3/19 - 1
8-21984958-T-G c.997A>C p.T333P Missense 3/19 - 1
8-21984960-G-A c.995C>T p.P332L Missense 3/19 - 1
8-21984958-T-TG c.996dup p.T333Hfs*2 Frameshift 3/19 - 1
8-21984961-G-A c.994C>T p.P332S Missense 3/19 - 1
8-21984964-G-A c.991C>T p.P331S Missense 3/19 - 4
8-21984966-T-A c.989A>T p.Y330F Missense 3/19 - 1
8-21984969-G-C c.986C>G p.S329C Missense 3/19 - 2
8-21984970-A-C c.985T>G p.S329A Missense 3/19 - 3
8-21984972-GA-CC c.982_983delinsGG p.S328G Missense 3/19 - 1
8-21984972-G-C c.983C>G p.S328* Nonsense 3/19 - 1
8-21984973-A-C c.982T>G p.S328A Missense 3/19 - 1
8-21984975-C-G c.980G>C p.C327S Missense 3/19 - 1
8-21984976-A-T c.979T>A p.C327S Missense 3/19 - 1
8-21984978-C-G c.977G>C p.C326S Missense 3/19 - 1
8-21984979-A-C c.976T>G p.C326G Missense 3/19 - 1
8-21984979-A-T c.976T>A p.C326S Missense 3/19 - 1
8-21984981-C-G c.974G>C p.G325A Missense 3/19 - 2
8-21984981-C-T c.974G>A p.G325D Missense 3/19 - 2
8-21984982-C-G c.973G>C p.G325R Missense 3/19 - 1
8-21984983-CCG-GTT c.970_972delinsAAC p.R324N Missense 3/19 - 1
8-21984984-C-T c.971G>A p.R324Q Missense 3/19 - 1
8-21984987-TG-GC c.967_968delinsGC p.Q323A Missense 3/19 - 1
8-21984989-G-A c.966C>T p.T322= Synonymous 3/19 - 1
8-21984989-G-C c.966C>G p.T322= Synonymous 3/19 - 1
8-21984989-GG-CA c.965_966delinsTG p.T322M Missense 3/19 - 1
8-21984989-GGT-CTC c.964_966delinsGAG p.T322E Missense 3/19 - 1
8-21984989-G-T c.966C>A p.T322= Synonymous 3/19 - 1
8-21984990-G-C c.965C>G p.T322S Missense 3/19 - 1
8-21984991-T-A c.964A>T p.T322S Missense 3/19 - 1
8-21984992-G-A c.963C>T p.V321= Synonymous 3/19 - 1
8-21984992-G-C c.963C>G p.V321= Synonymous 3/19 - 1
8-21984992-G-T c.963C>A p.V321= Synonymous 3/19 - 1
8-21984995-AG-TT c.959_960delinsAA p.P320Q Missense 3/19 - 1
8-21984997-G-A c.958C>T p.P320S Missense 3/19 - 1
8-21984999-G-A c.956C>T p.P319L Missense 3/19 - 1
8-21985001-C-A c.954G>T p.E318D Missense 3/19 - 11
8-21985001-C-G c.954G>C p.E318D Missense 3/19 - 11
8-21985002-TC-CA c.952_953delinsTG p.E318W Missense 3/19 - 1
8-21985002-T-G c.953A>C p.E318A Missense 3/19 - 4
8-21985003-C-T c.952G>A p.E318K Missense 3/19 - 4
8-21985006-G-A c.949C>T p.P317S Missense 3/19 - 1
8-21985008-GA-AG c.946_947delinsCT p.S316L Missense 3/19 - 1
8-21985008-GA-AT c.946_947delinsAT p.S316I Missense 3/19 - 1
8-21985008-G-C c.947C>G p.S316C Missense 3/19 - 1
8-21985009-A-C c.946T>G p.S316A Missense 3/19 - 1
8-21985014-CA-GT c.940_941delinsAC p.C314T Missense 3/19 - 1
8-21985017-C-T c.938G>A p.R313K Missense 3/19 - 1
8-21985017-CT-GC c.937_938delinsGC p.R313A Missense 3/19 - 1
8-21985017-CT-TG c.937_938delinsCA p.R313Q Missense 3/19 - 1
8-21985019-TG-AT c.935_936delinsAT p.P312H Missense 3/19 - 1
8-21985020-G-C c.935C>G p.P312R Missense 3/19 - 1
8-21985020-G-T c.935C>A p.P312Q Missense 3/19 - 1
8-21985023-G-A c.932C>T p.T311I Missense 3/19 - 1
8-21985027-C-A c.928G>T p.A310S Missense 3/19 - 1
8-21985029-G-A c.926C>T p.P309L Missense 3/19 - 1
8-21985030-G-C c.925C>G p.P309A Missense 3/19 - 1
8-21985031-TG-AT c.923_924delinsAT p.P308H Missense 3/19 - 1
8-21985034-CCC-GCT c.919_921delinsAGC p.G307S Missense 3/19 - 1
8-21985038-A-G c.917T>C p.L306P Missense 3/19 - 1
8-21985045-A-G c.910T>C p.Y304H Missense 3/19 - 1
8-21985047-C-A c.908G>T p.G303V Missense 3/19 - 2
8-21985047-C-G c.908G>C p.G303A Missense 3/19 - 1
8-21985050-A-G c.905T>C p.L302P Missense 3/19 - 1
8-21985052-G-C c.903C>G p.N301K Missense 3/19 - 2
8-21985052-G-T c.903C>A p.N301K Missense 3/19 - 2
8-21985052-GT-CA c.902_903delinsTG p.N301M Missense 3/19 - 1
8-21985052-GTT-CTC c.901_903delinsGAG p.N301E Missense 3/19 - 1
8-21985053-T-C c.902A>G p.N301S Missense 3/19 - 1
8-21985053-TT-CA c.901_902delinsTG p.N301C Missense 3/19 - 1
8-21985053-TT-CC c.901_902delinsGG p.N301G Missense 3/19 - 1
8-21985053-TT-GC c.901_902delinsGC p.N301A Missense 3/19 - 1
8-21985055-CCC-ACA c.898_900delinsTGT p.G300C Missense 3/19 - 1
8-21985055-CCC-ATG c.898_900delinsCAT p.G300H Missense 3/19 - 1
8-21985056-CC-TA c.898_899delinsTA p.G300* Nonsense 3/19 - 1
8-21985056-C-T c.899G>A p.G300E Missense 3/19 - 1
8-21985059-T-C c.896A>G p.D299G Missense 3/19 - 2
8-21985059-T-G c.896A>C p.D299A Missense 3/19 - 1
8-21985060-TC-T c.895del p.D299Mfs*64 Frameshift 3/19 - 1
8-21985061-GCC-CTT c.892_894delinsAAG p.G298K Missense 3/19 - 1
8-21985062-CC-GT c.892_893delinsAC p.G298T Missense 3/19 - 1
8-21985062-C-G c.893G>C p.G298A Missense 3/19 - 1
8-21985062-C-T c.893G>A p.G298D Missense 3/19 - 1
8-21985067-C-T c.888G>A p.G296= Synonymous 3/19 - 1
8-21985072-C-G c.883G>C p.A295P Missense 3/19 - 1
8-21985074-C-T c.881G>A p.W294* Nonsense 3/19 - 1
8-21985078-C-G c.877G>C p.V293L Missense 3/19 - 1
8-21985078-C-T c.877G>A p.V293I Missense 3/19 - 1
8-21985081-T-A c.874A>T p.N292Y Missense 3/19 - 1
8-21985087-G-A c.868C>T p.L290F Missense 3/19 - 1
8-21985090-T-C c.865A>G p.T289A Missense 3/19 - 1
8-21985092-TG-GC c.862_863delinsGC p.H288A Missense 3/19 - 1
8-21985095-A-G c.860T>C p.V287A Missense 3/19 - 1
8-21985096-C-T c.859G>A p.V287I Missense 3/19 - 1
8-21985098-A-C c.857T>G p.L286R Missense 3/19 - 1
8-21985098-AG-GC c.856_857delinsGC p.L286A Missense 3/19 - 2
8-21985099-G-A c.856C>T p.L286F Missense 3/19 - 2
8-21985099-G-C c.856C>G p.L286V Missense 3/19 - 2
8-21985099-G-T c.856C>A p.L286I Missense 3/19 - 1
8-21985101-C-G c.854G>C p.G285A Missense 3/19 - 1
8-21985102-C-G c.853G>C p.G285R Missense 3/19 - 2
8-21985107-GG-TC c.847_848delinsGA p.P283D Missense 3/19 - 1
8-21985108-G-A c.847C>T p.P283S Missense 3/19 - 1
8-21985110-CA-GC c.844_845delinsGC p.C282A Missense 3/19 - 1
8-21985110-CA-GT c.844_845delinsAC p.C282T Missense 3/19 - 1
8-21985110-C-T c.845G>A p.C282Y Missense 3/19 - 17
8-21985121-G-A c.834C>T p.S278= Synonymous 3/19 - 1
8-21985121-G-C c.834C>G p.S278= Synonymous 3/19 - 1
8-21985121-G-T c.834C>A p.S278= Synonymous 3/19 - 1
8-21985123-A-C c.832T>G p.S278A Missense 3/19 - 1
8-21985125-G-T c.830C>A p.T277N Missense 3/19 - 1
8-21985125-GT-AG c.829_830delinsCT p.T277L Missense 3/19 - 1
8-21985125-GT-TC c.829_830delinsGA p.T277D Missense 3/19 - 1
8-21985126-T-C c.829A>G p.T277A Missense 3/19 - 2
8-21985131-GG-AA c.823_824delinsTT p.P275F Missense 3/19 - 1
8-21985132-G-C c.823C>G p.P275A Missense 3/19 - 1
8-21985134-AC-GA c.820_821delinsTC p.V274S Missense 3/19 - 1
8-21985134-A-T c.821T>A p.V274E Missense 3/19 - 1
8-21985135-C-A c.820G>T p.V274L Missense 3/19 - 1
8-21985135-C-G c.820G>C p.V274L Missense 3/19 - 1
8-21985137-GT-CA c.817_818delinsTG p.T273C Missense 3/19 - 1
8-21985139-G-C c.816C>G p.D272E Missense 3/19 - 1
8-21985140-TC-CG c.814_815delinsCG p.D272R Missense 3/19 - 1
8-21985140-T-G c.815A>C p.D272A Missense 3/19 - 1
8-21985147-G-T c.808C>A p.Q270K Missense 3/19 - 1
8-21985148-CCC-GCT c.805_807delinsAGC p.G269S Missense 3/19 - 1
8-21985151-C-A c.804G>T p.L268= Synonymous 3/19 - 1
8-21985151-C-G c.804G>C p.L268= Synonymous 3/19 - 1
8-21985151-C-T c.804G>A p.L268= Synonymous 3/19 - 1
8-21985153-G-A c.802C>T p.L268= Synonymous 3/19 - 1
8-21985152-A-G c.803T>C p.L268P Missense 3/19 - 1
8-21985152-AG-TC c.802_803delinsGA p.L268E Missense 3/19 - 1
8-21985158-AG-CA c.796_797delinsTG p.L266C Missense 3/19 - 1
8-21985158-AG-TC c.796_797delinsGA p.L266D Missense 3/19 - 1
8-21985161-GG-CC c.793_794inv p.P265G Missense 3/19 - 1
8-21985162-G-C c.793C>G p.P265A Missense 3/19 - 1
8-21985164-C-G c.791G>C p.C264S Missense 3/19 - 1
8-21985165-A-T c.790T>A p.C264S Missense 3/19 - 1
8-21985168-G-C c.787C>G p.P263A Missense 3/19 - 1
8-21985170-TT-GC c.784_785delinsGC p.N262A Missense 3/19 - 3
8-21985171-T-C c.784A>G p.N262D Missense 3/19 - 1
8-21985177-G-A c.778C>T p.Q260* Nonsense 3/19 - 1
8-21985179-CG-GC c.775_776delinsGC p.R259A Missense 3/19 - 4
8-21985179-CGGCCA-C c.771_775del p.G258Afs*59 Frameshift 3/19 - 1
8-21985182-C-G c.773G>C p.G258A Missense 3/19 - 1
8-21985182-C-T c.773G>A p.G258D Missense 3/19 - 2
8-21985188-C-A c.767G>T p.G256V Missense 3/19 - 1
8-21985188-C-G c.767G>C p.G256A Missense 3/19 - 1
8-21985190-C-A c.765G>T p.M255I Missense 3/19 - 1
8-21985190-CAT-ATA c.763_765delinsTAT p.M255Y Missense 3/19 - 1
8-21985190-C-G c.765G>C p.M255I Missense 3/19 - 1
8-21985190-C-T c.765G>A p.M255I Missense 3/19 - 1
8-21985193-C-A c.762G>T p.E254D Missense 3/19 - 1
8-21985193-C-G c.762G>C p.E254D Missense 3/19 - 1
8-21985194-T-G c.761A>C p.E254A Missense 3/19 - 2
8-21985197-C-A c.758G>T p.G253V Missense 3/19 - 1
8-21985197-C-G c.758G>C p.G253A Missense 3/19 - 1
8-21985199-ATC-TTG c.754_756delinsCAA p.D252Q Missense 3/19 - 1
8-21985200-TC-AA c.754_755delinsTT p.D252F Missense 3/19 - 2
8-21985201-C-T c.754G>A p.D252N Missense 3/19 - 2
8-21985203-CT-TG c.751_752delinsCA p.R251Q Missense 3/19 - 1
8-21985209-T-G c.746A>C p.H249P Missense 3/19 - 1
8-21985209-TG-GC c.745_746delinsGC p.H249A Missense 3/19 - 1
8-21985211-C-A c.744G>T p.L248= Synonymous 3/19 - 1
8-21985211-C-G c.744G>C p.L248= Synonymous 3/19 - 1
8-21985211-C-T c.744G>A p.L248= Synonymous 3/19 - 1
8-21985213-G-A c.742C>T p.L248= Synonymous 3/19 - 2
8-21985212-A-C c.743T>G p.L248R Missense 3/19 - 2
8-21985212-A-G c.743T>C p.L248P Missense 3/19 - 1
8-21985213-G-C c.742C>G p.L248V Missense 3/19 - 12
8-21985213-G-T c.742C>A p.L248M Missense 3/19 - 1
8-21985215-GA-CT c.739_740delinsAG p.S247R Missense 3/19 - 3
8-21985216-A-C c.739T>G p.S247A Missense 3/19 - 2
8-21985216-A-G c.739T>C p.S247P Missense 3/19 - 2
8-21985217-AGG-CTT c.736_738delinsAAG p.P246K Missense 3/19 - 1
8-21985218-G-A c.737C>T p.P246L Missense 3/19 - 1
8-21985221-C-A c.734G>T p.R245L Missense 3/19 - 1
8-21985221-CG-GC c.733_734delinsGC p.R245A Missense 3/19 - 1
8-21985222-G-A c.733C>T p.R245C Missense 3/19 - 1
8-21985223-T-A c.732A>T p.E244D Missense 3/19 - 1
8-21985223-T-G c.732A>C p.E244D Missense 3/19 - 1
8-21985224-T-C c.731A>G p.E244G Missense 3/19 - 1
8-21985224-T-G c.731A>C p.E244A Missense 3/19 - 1
8-21985225-C-T c.730G>A p.E244K Missense 3/19 - 2
8-21985224-TCGG-T c.728_730del p.A243del InFrameDeletion 3/19 - 2
8-21985227-G-C c.728C>G p.A243G Missense 3/19 - 1
8-21985228-C-G c.727G>C p.A243P Missense 3/19 - 1
8-21985228-C-T c.727G>A p.A243T Missense 3/19 - 1
8-21985230-T-C c.725A>G p.E242G Missense 3/19 - 1
8-21985230-T-G c.725A>C p.E242A Missense 3/19 - 1
8-21985232-CCC-GTT c.721_723delinsAAC p.G241N Missense 3/19 - 1
8-21985233-C-G c.722G>C p.G241A Missense 3/19 - 2
8-21985233-C-T c.722G>A p.G241E Missense 3/19 - 1
8-21985234-C-G c.721G>C p.G241R Missense 3/19 - 1
8-21985234-C-T c.721G>A p.G241R Missense 3/19 - 1
8-21985236-G-T c.719C>A p.A240D Missense 3/19 - 1
8-21985238-TCT-CCA c.715_717delinsTGG p.R239W Missense 3/19 - 1
8-21985239-CT-GC c.715_716delinsGC p.R239A Missense 3/19 - 1
8-21985240-T-A c.715A>T p.R239* Nonsense 3/19 - 1
8-21985242-TG-GC c.712_713delinsGC p.Q238A Missense 3/19 - 1
8-21985243-G-A c.712C>T p.Q238* Nonsense 3/19 - 1
8-21985243-G-C c.712C>G p.Q238E Missense 3/19 - 1
8-21985243-G-T c.712C>A p.Q238K Missense 3/19 - 2
8-21985245-AG-TC c.709_710delinsGA p.L237E Missense 3/19 - 1
8-21985246-G-T c.709C>A p.L237M Missense 3/19 - 2
8-21985248-T-G c.707A>C p.H236P Missense 3/19 - 1
8-21985248-TG-GC c.706_707delinsGC p.H236A Missense 3/19 - 1
8-21985253-AC-CT c.701_702delinsAG p.G234E Missense 3/19 - 1
8-21985254-C-G c.701G>C p.G234A Missense 3/19 - 1
8-21985254-C-T c.701G>A p.G234D Missense 3/19 - 2
8-21985257-G-A c.698C>T p.S233F Missense 3/19 - 2
8-21985262-TAA-ATG c.691_693delinsCAT p.L231H Missense 3/19 - 1
8-21985263-TAAG-T c.690_692del p.L231del InFrameDeletion 3/19 - 1
8-21985267-C-G c.688G>C p.G230R Missense 3/19 - 2
8-21985269-AA-GC c.685_686delinsGC p.F229A Missense 3/19 - 1
8-21985271-C-A c.684G>T p.L228F Missense 3/19 - 1
8-21985271-C-G c.684G>C p.L228F Missense 3/19 - 1
8-21985278-G-A c.677C>T p.P226L Missense 3/19 - 5
8-21985279-G-T c.676C>A p.P226T Missense 3/19 - 1
8-21985281-T-G c.674A>C p.E225A Missense 3/19 - 1
8-21985282-C-T c.673G>A p.E225K Missense 3/19 - 3
8-21985283-C-A c.672G>T p.A224= Synonymous 3/19 - 2
8-21985283-C-G c.672G>C p.A224= Synonymous 3/19 - 2
8-21985283-C-T c.672G>A p.A224= Synonymous 3/19 - 2
8-21985284-GC-TA c.670_671delinsTA p.A224* Nonsense 3/19 - 1
8-21985286-AGC-CTT c.667_669delinsAAG p.A223K Missense 3/19 - 1
8-21985287-G-A c.668C>T p.A223V Missense 3/19 - 1
8-21985287-GC-AG c.667_668delinsCT p.A223L Missense 3/19 - 1
8-21985287-G-T c.668C>A p.A223D Missense 3/19 - 1
8-21985288-C-T c.667G>A p.A223T Missense 3/19 - 2
8-21985290-G-A c.665C>T p.A222V Missense 3/19 - 30
8-21985291-C-A c.664G>T p.A222S Missense 3/19 - 1
8-21985293-AA-GG c.661_662delinsCC p.L221P Missense 3/19 - 1
8-21985296-G-A c.659C>T p.P220L Missense 3/19 - 1
8-21985297-G-A c.658C>T p.P220S Missense 3/19 - 1
8-21985299-TC-GA c.655_656inv p.E219S Missense 3/19 - 1
8-21985299-T-G c.656A>C p.E219A Missense 3/19 - 2
8-21985302-T-C c.653A>G p.K218R Missense 3/19 - 1
8-21985303-T-C c.652A>G p.K218E Missense 3/19 - 1
8-21985306-C-T c.649G>A p.A217T Missense 3/19 - 1
8-21985307-C-A c.648G>T p.L216F Missense 3/19 - 1
8-21985307-CAA-GAT c.646_648delinsATC p.L216I Missense 3/19 - 1
8-21985307-C-G c.648G>C p.L216F Missense 3/19 - 1
8-21985308-A-G c.647T>C p.L216S Missense 3/19 - 1
8-21985310-CCT-ACA c.643_645delinsTGT p.R215C Missense 3/19 - 1
8-21985311-C-T c.644G>A p.R215K Missense 3/19 - 1
8-21985311-CT-GC c.643_644delinsGC p.R215A Missense 3/19 - 1
8-21985312-T-A c.643A>T p.R215W Missense 3/19 - 4
8-21985316-AAT-TTA c.637_639delinsTAA p.I213* Nonsense 3/19 - 1
8-21985317-AT-CA c.637_638delinsTG p.I213C Missense 3/19 - 1
8-21985318-T-G c.637A>C p.I213L Missense 3/19 - 1
8-21985320-C-A c.635G>T p.S212I Missense 3/19 - 1
8-21985320-CT-AG c.634_635inv p.S212L Missense 3/19 - 1
8-21985320-CT-TC c.634_635delinsGA p.S212D Missense 3/19 - 2
8-21985327-C-T c.628G>A p.D210N Missense 3/19 - 6
8-21985329-T-C c.626A>G p.K209R Missense 3/19 - 1
8-21985335-T-A c.620A>T p.Y207F Missense 3/19 - 1
8-21985335-TA-GC c.619_620delinsGC p.Y207A Missense 3/19 - 1
8-21985336-A-C c.619T>G p.Y207D Missense 3/19 - 4
8-21985337-AAA-CTT c.616_618delinsAAG p.F206K Missense 3/19 - 1
8-21985338-AA-GC c.616_617delinsGC p.F206A Missense 3/19 - 2
8-21985340-GC-CT c.614_615delinsAG p.G205E Missense 3/19 - 1
8-21985341-C-G c.614G>C p.G205A Missense 3/19 - 1
8-21985342-C-T c.613G>A p.G205S Missense 3/19 - 1
8-21986074-T-C c.610A>G p.K204E Missense 2/19 - 1
8-21986078-GC-CT c.605_606delinsAG p.G202E Missense 2/19 - 1
8-21986080-C-G c.604G>C p.G202R Missense 2/19 - 3
8-21986082-A-T c.602T>A p.L201* Nonsense 2/19 - 1
8-21986084-GC-CT c.599_600delinsAG p.S200K Missense 2/19 - 1
8-21986084-GCT-CTC c.598_600delinsGAG p.S200E Missense 2/19 - 2
8-21986085-C-T c.599G>A p.S200N Missense 2/19 - 1
8-21986085-CT-GC c.598_599delinsGC p.S200A Missense 2/19 - 1
8-21986085-CT-GG c.598_599delinsCC p.S200P Missense 2/19 - 2
8-21986085-GCTGAA-G c.595_599del p.F199Lfs*118 Frameshift 2/19 - 1
8-21986088-AA-GC c.595_596delinsGC p.F199A Missense 2/19 - 1
8-21986088-A-C c.596T>G p.F199C Missense 2/19 - 1
8-21986088-A-T c.596T>A p.F199Y Missense 2/19 - 1
8-21986091-G-A c.593C>T p.A198V Missense 2/19 - 1
8-21986091-G-T c.593C>A p.A198D Missense 2/19 - 1
8-21986094-GA-AG c.589_590delinsCT p.S197L Missense 2/19 - 1
8-21986094-G-C c.590C>G p.S197C Missense 2/19 - 1
8-21986095-A-G c.589T>C p.S197P Missense 2/19 - 1
8-21986098-G-A c.586C>T p.P196S Missense 2/19 - 1
8-21986102-T-A c.582A>T p.K194N Missense 2/19 - 1
8-21986102-T-G c.582A>C p.K194N Missense 2/19 - 1
8-21986103-TT-GC c.580_581delinsGC p.K194A Missense 2/19 - 1
8-21986104-T-G c.580A>C p.K194Q Missense 2/19 - 1
8-21986106-GG-CC c.577_578inv p.P193G Missense 2/19 - 1
8-21986109-T-C c.575A>G p.Q192R Missense 2/19 - 1
8-21986109-TG-GC c.574_575delinsGC p.Q192A Missense 2/19 - 2
8-21986110-G-T c.574C>A p.Q192K Missense 2/19 - 1
8-21986112-C-T c.572G>A p.G191D Missense 2/19 - 1
8-21986114-C-A c.570G>T p.G190= Synonymous 2/19 - 1
8-21986114-CCC-ACA c.568_570delinsTGT p.G190C Missense 2/19 - 2
8-21986114-CCC-GCT c.568_570delinsAGC p.G190S Missense 2/19 - 5
8-21986114-C-G c.570G>C p.G190= Synonymous 2/19 - 1
8-21986114-C-T c.570G>A p.G190= Synonymous 2/19 - 1
8-21986115-C-G c.569G>C p.G190A Missense 2/19 - 31
8-21986116-C-G c.568G>C p.G190R Missense 2/19 - 2
8-21986116-C-T c.568G>A p.G190R Missense 2/19 - 2
8-21986119-A-C c.565T>G p.S189A Missense 2/19 - 1
8-21986120-G-A c.564C>T p.Y188= Synonymous 2/19 - 1
8-21986121-T-A c.563A>T p.Y188F Missense 2/19 - 1
8-21986121-TA-AG c.562_563delinsCT p.Y188L Missense 2/19 - 7
8-21986121-T-C c.563A>G p.Y188C Missense 2/19 - 6
8-21986122-A-G c.562T>C p.Y188H Missense 2/19 - 1
8-21986123-T-C c.561A>G p.V187= Synonymous 2/19 - 1
8-21986124-A-C c.560T>G p.V187G Missense 2/19 - 1
8-21986126-CC-AA c.557_558delinsTT p.W186F Missense 2/19 - 1
8-21986130-GG-CA c.553_554delinsTG p.P185C Missense 2/19 - 1
8-21986132-G-A c.552C>T p.H184= Synonymous 2/19 - 1
8-21986140-T-C c.544A>G p.T182A Missense 2/19 - 1
8-21986146-G-A c.538C>T p.P180S Missense 2/19 - 2
8-21986147-C-T c.537G>A p.W179* Nonsense 2/19 - 1
8-21986148-CA-GC c.535_536delinsGC p.W179A Missense 2/19 - 1
8-21986148-C-T c.536G>A p.W179* Nonsense 2/19 - 2
8-21986151-T-G c.533A>C p.D178A Missense 2/19 - 1
8-21986152-C-T c.532G>A p.D178N Missense 2/19 - 1
8-21986154-CA-GC c.529_530delinsGC p.C177A Missense 2/19 - 1
8-21986155-A-C c.529T>G p.C177G Missense 2/19 - 2
8-21986158-G-A c.526C>T p.P176S Missense 2/19 - 2
8-21986158-G-T c.526C>A p.P176T Missense 2/19 - 1
8-21986160-TG-CC c.523_524delinsGG p.H175G Missense 2/19 - 1
8-21986161-G-A c.523C>T p.H175Y Missense 2/19 - 1
8-21986163-TC-CT c.520_521delinsAG p.E174R Missense 2/19 - 1
8-21986163-T-G c.521A>C p.E174A Missense 2/19 - 1
8-21986169-G-A c.515C>T p.P172L Missense 2/19 - 2
8-21986172-AG-GC c.511_512delinsGC p.L171A Missense 2/19 - 1
8-21986172-A-T c.512T>A p.L171Q Missense 2/19 - 1
8-21986175-C-G c.509G>C p.G170A Missense 2/19 - 1
8-21986175-C-T c.509G>A p.G170D Missense 2/19 - 1
8-21986176-C-G c.508G>C p.G170R Missense 2/19 - 1
8-21986179-A-C c.505T>G p.S169A Missense 2/19 - 1
8-21986179-A-G c.505T>C p.S169P Missense 2/19 - 3
8-21986180-CAC-GAT c.502_504delinsATC p.V168I Missense 2/19 - 2
8-21986181-AC-GA c.502_503delinsTC p.V168S Missense 2/19 - 1
8-21986181-A-G c.503T>C p.V168A Missense 2/19 - 1
8-21986182-C-T c.502G>A p.V168M Missense 2/19 - 1
8-21986183-CTAG-C c.499_501del p.L167del InFrameDeletion 2/19 - 2
8-21986183-TA-AT c.500_501delinsAT p.L167H Missense 2/19 - 1
8-21986183-TAG-AAA c.499_501delinsTTT p.L167F Missense 2/19 - 1
8-21986183-TAG-ACA c.499_501delinsTGT p.L167C Missense 2/19 - 1
8-21986183-TAG-CAT c.499_501delinsATG p.L167M Missense 2/19 - 1
8-21986183-TAG-CCA c.499_501delinsTGG p.L167W Missense 2/19 - 2
8-21986184-A-G c.500T>C p.L167P Missense 2/19 - 2
8-21986184-AG-GT c.499_500delinsAC p.L167T Missense 2/19 - 1
8-21986184-A-T c.500T>A p.L167Q Missense 2/19 - 1
8-21986194-G-C c.490C>G p.P164A Missense 2/19 - 1
8-21986197-A-C c.487T>G p.L163V Missense 2/19 - 1
8-21986201-GG-CT c.482_483delinsAG p.T161K Missense 2/19 - 2
8-21986203-T-C c.481A>G p.T161A Missense 2/19 - 2
8-21986205-G-A c.479C>T p.P160L Missense 2/19 - 1
8-21986205-G-C c.479C>G p.P160R Missense 2/19 - 1
8-21986205-GG-TA c.478_479delinsTA p.P160Y Missense 2/19 - 1
8-21986206-G-A c.478C>T p.P160S Missense 2/19 - 1
8-21986208-A-G c.476T>C p.V159A Missense 2/19 - 1
8-21986209-C-A c.475G>T p.V159L Missense 2/19 - 1
8-21986209-C-G c.475G>C p.V159L Missense 2/19 - 1
8-21986210-CC-AA c.473_474delinsTT p.W158F Missense 2/19 - 1
8-21986211-C-G c.473G>C p.W158S Missense 2/19 - 1
8-21986212-A-G c.472T>C p.W158R Missense 2/19 - 1
8-21986212-A-T c.472T>A p.W158R Missense 2/19 - 1
8-21986211-CAGAAGGGAGCTCGCTCCAGGATCTTGGTCTCCAGAAGGAAAGGGCAGTGCCAGGGCCGG-C c.414_472del p.F138Lfs*21 CdsStartDeletion 2/19 - 1
8-21986211-CAGA-C c.470_472del p.F157del InFrameDeletion 2/19 - 7
8-21986214-A-G c.470T>C p.F157S Missense 2/19 - 4
8-21986213-G-C c.471C>G p.F157L Missense 2/19 - 18
8-21986213-G-T c.471C>A p.F157L Missense 2/19 - 18
8-21986215-A-G c.469T>C p.F157L Missense 2/19 - 18
8-21986220-G-C c.464C>G p.A155G Missense 2/19 - 1
8-21986221-C-A c.463G>T p.A155S Missense 2/19 - 2
8-21986222-TC-AT c.461_462delinsAT p.R154H Missense 2/19 - 2
8-21986222-TCG-CCA c.460_462delinsTGG p.R154W Missense 2/19 - 2
8-21986223-C-T c.461G>A p.R154Q Missense 2/19 - 1
8-21986225-C-A c.459G>T p.E153D Missense 2/19 - 1
8-21986225-C-G c.459G>C p.E153D Missense 2/19 - 1
8-21986226-T-G c.458A>C p.E153A Missense 2/19 - 3
8-21986227-C-A c.457G>T p.E153* Nonsense 2/19 - 1
8-21986227-C-G c.457G>C p.E153Q Missense 2/19 - 1
8-21986226-TCCAGGATCTTGGTCTCCAGAAGGAAAGGGCAGTGCCAGGGCCGGAAGGCCACAGGGTCA-T c.399_457del p.S133Rfs*26 CdsStartDeletion 2/19 - 1
8-21986229-AG-GC c.454_455delinsGC p.L152A Missense 2/19 - 1
8-21986232-AT-GC c.451_452delinsGC p.I151A Missense 2/19 - 1
8-21986233-T-G c.451A>C p.I151L Missense 2/19 - 1
8-21986235-TT-GC c.448_449delinsGC p.K150A Missense 2/19 - 1
8-21986238-GT-AA c.445_446delinsTT p.T149F Missense 2/19 - 1
8-21986238-GT-AG c.445_446delinsCT p.T149L Missense 2/19 - 1
8-21986239-T-C c.445A>G p.T149A Missense 2/19 - 2
8-21986242-C-A c.442G>T p.E148* Nonsense 2/19 - 1
8-21986246-AAG-CAT c.436_438delinsATG p.L146M Missense 2/19 - 1
8-21986246-AA-TT c.437_438inv p.L146Q Missense 2/19 - 1
8-21986246-A-C c.438T>G p.L146= Synonymous 2/19 - 1
8-21986246-A-G c.438T>C p.L146= Synonymous 2/19 - 2
8-21986246-A-T c.438T>A p.L146= Synonymous 2/19 - 1
8-21986248-G-A c.436C>T p.L146F Missense 2/19 - 2
8-21986249-GA-CC c.434_435delinsGG p.F145W Missense 2/19 - 1
8-21986250-AA-GC c.433_434delinsGC p.F145A Missense 2/19 - 1
8-21986250-A-C c.434T>G p.F145C Missense 2/19 - 1
8-21986257-A-C c.427T>G p.C143G Missense 2/19 - 1
8-21986260-G-A c.424C>T p.H142Y Missense 2/19 - 1
8-21986261-C-A c.423G>T p.W141C Missense 2/19 - 1
8-21986262-C-A c.422G>T p.W141L Missense 2/19 - 1
8-21986262-CA-GC c.421_422delinsGC p.W141A Missense 2/19 - 1
8-21986262-C-G c.422G>C p.W141S Missense 2/19 - 1
8-21986264-GGG-CTT c.418_420delinsAAG p.P140K Missense 2/19 - 1
8-21986268-CG-GC c.415_416delinsGC p.R139A Missense 2/19 - 2
8-21986268-CG-TT c.415_416delinsAA p.R139K Missense 2/19 - 1
8-21986272-A-T c.412T>A p.F138I Missense 2/19 - 1
8-21986274-G-A c.410C>T p.A137V Missense 2/19 - 1
8-21986274-GC-TT c.409_410delinsAA p.A137N Missense 2/19 - 1
8-21986277-AC-GA c.406_407delinsTC p.V136S Missense 2/19 - 1
8-21986277-A-G c.407T>C p.V136A Missense 2/19 - 2
8-21986281-G-A c.403C>T p.P135S Missense 2/19 - 1
8-21986281-G-C c.403C>G p.P135A Missense 2/19 - 1
8-21986283-T-G c.401A>C p.D134A Missense 2/19 - 3
8-21986286-CT-AG c.397_398inv p.S133L Missense 2/19 - 1
8-21986286-CT-GC c.397_398delinsGC p.S133A Missense 2/19 - 3
8-21986288-C-A c.396G>T p.K132N Missense 2/19 - 1
8-21986288-C-G c.396G>C p.K132N Missense 2/19 - 1
8-21986289-TT-GC c.394_395delinsGC p.K132A Missense 2/19 - 2
8-21986291-GAG-CTC c.391_393inv p.L131E Missense 2/19 - 1
8-21986292-AG-GC c.391_392delinsGC p.L131A Missense 2/19 - 1
8-21986295-TG-CT c.388_389delinsAG p.H130S Missense 2/19 - 1
8-21986296-G-T c.388C>A p.H130N Missense 2/19 - 1
8-21986298-CC-GT c.385_386delinsAC p.G129T Missense 2/19 - 1
8-21986298-C-G c.386G>C p.G129A Missense 2/19 - 1
8-21986299-C-G c.385G>C p.G129R Missense 2/19 - 6
8-21986304-CT-GC c.379_380delinsGC p.S127A Missense 2/19 - 6
8-21986305-CT-C c.379del p.S127Vfs*41 Frameshift 2/19 - 1
8-21986308-G-A c.376C>T p.H126Y Missense 2/19 - 1
8-21986308-G-T c.376C>A p.H126N Missense 2/19 - 2
8-21986310-T-G c.374A>C p.E125A Missense 2/19 - 2
8-21986311-C-A c.373G>T p.E125* Nonsense 2/19 - 1
8-21986311-C-G c.373G>C p.E125Q Missense 2/19 - 1
8-21986311-C-CA c.372dup p.E125* Nonsense 2/19 - 1
8-21986315-C-T c.369G>A p.M123I Missense 2/19 - 1
8-21986316-A-G c.368T>C p.M123T Missense 2/19 - 1
8-21986318-CAG-ACA c.364_366delinsTGT p.L122C Missense 2/19 - 2
8-21986319-AG-GC c.364_365delinsGC p.L122A Missense 2/19 - 1
8-21986322-GG-TA c.361_362delinsTA p.P121Y Missense 2/19 - 1
8-21986325-C-G c.359G>C p.G120A Missense 2/19 - 1
8-21986326-C-A c.358G>T p.G120C Missense 2/19 - 1
8-21986326-C-G c.358G>C p.G120R Missense 2/19 - 3
8-21986330-G-A c.354C>T p.R118= Synonymous 2/19 - 1
8-21986330-G-C c.354C>G p.R118= Synonymous 2/19 - 1
8-21986330-GC-TT c.353_354delinsAA p.R118Q Missense 2/19 - 1
8-21986330-G-T c.354C>A p.R118= Synonymous 2/19 - 1
8-21986331-C-A c.353G>T p.R118L Missense 2/19 - 1
8-21986331-CG-GC c.352_353delinsGC p.R118A Missense 2/19 - 2
8-21986332-G-A c.352C>T p.R118C Missense 2/19 - 1
8-21986332-G-C c.352C>G p.R118G Missense 2/19 - 5
8-21986333-AG-A c.350del p.P117Lfs*6 Frameshift 2/19 - 1
8-21986337-G-A c.347C>T p.P116L Missense 2/19 - 1
8-21986336-TG-T c.347del p.P116Hfs*7 Frameshift 2/19 - 1
8-21986340-CA-GC c.343_344delinsGC p.C115A Missense 2/19 - 1
8-21986340-CA-GT c.343_344delinsAC p.C115T Missense 2/19 - 1
8-21986342-CGC-ATA c.340_342delinsTAT p.A114Y Missense 2/19 - 2
8-21986342-CGC-GTT c.340_342delinsAAC p.A114N Missense 2/19 - 1
8-21986344-C-T c.340G>A p.A114T Missense 2/19 - 1
8-21986346-G-C c.338C>G p.P113R Missense 2/19 - 1
8-21986347-G-A c.337C>T p.P113S Missense 2/19 - 2
8-21986347-G-C c.337C>G p.P113A Missense 2/19 - 2
8-21986348-CCC-ACA c.334_336delinsTGT p.G112C Missense 2/19 - 1
8-21986349-CC-GG c.334_335inv p.G112P Missense 2/19 - 1
8-21986349-C-G c.335G>C p.G112A Missense 2/19 - 2
8-21986349-C-T c.335G>A p.G112E Missense 2/19 - 3
8-21986351-G-C c.333C>G p.C111W Missense 2/19 - 1
8-21986352-CA-GC c.331_332delinsGC p.C111A Missense 2/19 - 1
8-21986352-CA-GT c.331_332delinsAC p.C111T Missense 2/19 - 3
8-21986352-C-G c.332G>C p.C111S Missense 2/19 - 3
8-21986353-A-AAT c.330_331insAT p.C111Ifs*13 Frameshift 2/19 - 1
8-21986353-A-C c.331T>G p.C111G Missense 2/19 - 2
8-21986353-A-G c.331T>C p.C111R Missense 2/19 - 1
8-21986353-A-T c.331T>A p.C111S Missense 2/19 - 3
8-21986354-GA-TT c.329_330delinsAA p.F110* Nonsense 2/19 - 1
8-21986356-A-T c.328T>A p.F110I Missense 2/19 - 1
8-21986358-GC-AG c.325_326delinsCT p.A109L Missense 2/19 - 1
8-21986359-C-A c.325G>T p.A109S Missense 2/19 - 2
8-21986360-CAG-AAA c.322_324delinsTTT p.L108F Missense 2/19 - 1
8-21986362-G-C c.322C>G p.L108V Missense 2/19 - 1
8-21986365-G-C c.319C>G p.P107A Missense 2/19 - 1
8-21986366-A-C c.318T>G p.H106Q Missense 2/19 - 1
8-21986367-T-C c.317A>G p.H106R Missense 2/19 - 1
8-21986367-TG-CA c.316_317inv p.H106C Missense 2/19 - 1
8-21986367-TG-GC c.316_317delinsGC p.H106A Missense 2/19 - 2
8-21986368-G-A c.316C>T p.H106Y Missense 2/19 - 1
8-21986369-GGT-CCA c.313_315delinsTGG p.T105W Missense 2/19 - 1
8-21986370-GT-CA c.313_314delinsTG p.T105C Missense 2/19 - 1
8-21986371-T-C c.313A>G p.T105A Missense 2/19 - 1
8-21986372-A-G c.312T>C p.L104= Synonymous 2/19 - 1
8-21986373-A-C c.311T>G p.L104R Missense 2/19 - 1
8-21986376-AT-TC c.307_308delinsGA p.M103E Missense 2/19 - 1
8-21986381-C-A c.303G>T p.E101D Missense 2/19 - 1
8-21986381-C-G c.303G>C p.E101D Missense 2/19 - 1
8-21986382-T-C c.302A>G p.E101G Missense 2/19 - 2
8-21986382-T-G c.302A>C p.E101A Missense 2/19 - 1
8-21986383-C-A c.301G>T p.E101* Nonsense 2/19 - 2
8-21986383-C-T c.301G>A p.E101K Missense 2/19 - 1
8-21986384-C-A c.300G>T p.K100N Missense 2/19 - 1
8-21986384-C-G c.300G>C p.K100N Missense 2/19 - 1
8-21986384-CTT-ACA c.298_300delinsTGT p.K100C Missense 2/19 - 1
8-21986385-T-A c.299A>T p.K100M Missense 2/19 - 3
8-21986385-TT-GC c.298_299delinsGC p.K100A Missense 2/19 - 3
8-21986386-T-A c.298A>T p.K100* Nonsense 2/19 - 6
8-21986386-T-C c.298A>G p.K100E Missense 2/19 - 2
8-21986386-T-G c.298A>C p.K100Q Missense 2/19 - 1
8-21986387-CCA-ATG c.295_297delinsCAT p.W99H Missense 2/19 - 1
8-21986388-CA-GC c.295_296delinsGC p.W99A Missense 2/19 - 1
8-21986389-A-C c.295T>G p.W99G Missense 2/19 - 1
8-21986390-GCG-CAT c.292_294delinsATG p.R98M Missense 2/19 - 1
8-21986390-GCG-CTC c.292_294delinsGAG p.R98E Missense 2/19 - 1
8-21986391-CG-GC c.292_293delinsGC p.R98A Missense 2/19 - 2
8-21986392-G-A c.292C>T p.R98C Missense 2/19 - 1
8-21986392-G-C c.292C>G p.R98G Missense 2/19 - 1
8-21986393-CAG-GAT c.289_291delinsATC p.L97I Missense 2/19 - 1
8-21986393-CAG-GTC c.289_291delinsGAC p.L97D Missense 2/19 - 1
8-21986394-A-C c.290T>G p.L97R Missense 2/19 - 1
8-21986394-AG-TA c.289_290delinsTA p.L97* Nonsense 2/19 - 1
8-21986396-TCC-ATG c.286_288delinsCAT p.G96H Missense 2/19 - 1
8-21986397-C-A c.287G>T p.G96V Missense 2/19 - 2
8-21986397-C-G c.287G>C p.G96A Missense 2/19 - 1
8-21986398-C-G c.286G>C p.G96R Missense 2/19 - 1
8-21986398-C-T c.286G>A p.G96R Missense 2/19 - 1
8-21986399-C-A c.285G>T p.E95D Missense 2/19 - 1
8-21986399-C-G c.285G>C p.E95D Missense 2/19 - 1
8-21986399-C-T c.285G>A p.E95= Synonymous 2/19 - 1
8-21986399-CTC-ACA c.283_285delinsTGT p.E95C Missense 2/19 - 1
8-21986400-T-G c.284A>C p.E95A Missense 2/19 - 1
8-21986401-C-A c.283G>T p.E95* Nonsense 2/19 - 2
8-21986401-C-T c.283G>A p.E95K Missense 2/19 - 1
8-21986403-T-G c.281A>C p.K94T Missense 2/19 - 1
8-21986406-C-T c.278G>A p.S93N Missense 2/19 - 1
8-21986406-CT-GC c.277_278delinsGC p.S93A Missense 2/19 - 1
8-21986407-T-A c.277A>T p.S93C Missense 2/19 - 1
8-21986409-CC-AT c.274_275delinsAT p.G92I Missense 2/19 - 1
8-21986409-C-T c.275G>A p.G92D Missense 2/19 - 1
8-21986413-G-T c.271C>A p.L91M Missense 2/19 - 1
8-21986414-CCA-GTC c.268_270delinsGAC p.W90D Missense 2/19 - 1
8-21986415-CA-GC c.268_269delinsGC p.W90A Missense 2/19 - 1
8-21986418-TT-GC c.265_266delinsGC p.N89A Missense 2/19 - 1
8-21986419-T-C c.265A>G p.N89D Missense 2/19 - 1
8-21986421-AC-CG c.262_263delinsCG p.V88R Missense 2/19 - 1
8-21986421-A-G c.263T>C p.V88A Missense 2/19 - 1
8-21986422-C-T c.262G>A p.V88I Missense 2/19 - 1
8-21986423-CTT-ACA c.259_261delinsTGT p.K87C Missense 2/19 - 1
8-21986424-TT-GC c.259_260delinsGC p.K87A Missense 2/19 - 2
8-21986427-CT-GC c.256_257delinsGC p.R86A Missense 2/19 - 3
8-21986427-CT-GG c.256_257delinsCC p.R86P Missense 2/19 - 1
8-21986427-CT-TC c.256_257delinsGA p.R86E Missense 2/19 - 2
8-21986427-CT-TG c.256_257delinsCA p.R86Q Missense 2/19 - 1
8-21986428-T-A c.256A>T p.R86W Missense 2/19 - 1
8-21986429-C-A c.255G>T p.E85D Missense 2/19 - 1
8-21986429-C-G c.255G>C p.E85D Missense 2/19 - 1
8-21986429-C-T c.255G>A p.E85= Synonymous 2/19 - 2
8-21986429-CTC-AAA c.253_255delinsTTT p.E85F Missense 2/19 - 1
8-21986429-CTC-ACA c.253_255delinsTGT p.E85C Missense 2/19 - 2
8-21986429-CTC-ATG c.253_255delinsCAT p.E85H Missense 2/19 - 1
8-21986430-T-G c.254A>C p.E85A Missense 2/19 - 2
8-21986431-C-G c.253G>C p.E85Q Missense 2/19 - 1
8-21986431-C-T c.253G>A p.E85K Missense 2/19 - 1
8-21986432-CCC-GTT c.250_252delinsAAC p.G84N Missense 2/19 - 1
8-21986433-C-G c.251G>C p.G84A Missense 2/19 - 1
8-21986433-C-T c.251G>A p.G84E Missense 2/19 - 4
8-21986435-A-C c.249T>G p.N83K Missense 2/19 - 1
8-21986435-A-T c.249T>A p.N83K Missense 2/19 - 1
8-21986435-ATT-TTG c.247_249delinsCAA p.N83Q Missense 2/19 - 1
8-21986436-TT-GC c.247_248delinsGC p.N83A Missense 2/19 - 1
8-21986437-T-C c.247A>G p.N83D Missense 2/19 - 2
8-21986438-C-T c.246G>A p.Q82= Synonymous 2/19 - 1
8-21986442-G-A c.242C>T p.P81L Missense 2/19 - 1
8-21986443-G-A c.241C>T p.P81S Missense 2/19 - 2
8-21986443-G-T c.241C>A p.P81T Missense 2/19 - 1
8-21986444-GCC-CCA c.238_240delinsTGG p.G80W Missense 2/19 - 1
8-21986444-GCC-TCA c.238_240delinsTGA p.G80* Nonsense 2/19 - 1
8-21986445-CC-GT c.238_239delinsAC p.G80T Missense 2/19 - 2
8-21986445-C-G c.239G>C p.G80A Missense 2/19 - 5
8-21986445-C-T c.239G>A p.G80D Missense 2/19 - 1
8-21986447-C-A c.237G>T p.E79D Missense 2/19 - 1
8-21986447-C-G c.237G>C p.E79D Missense 2/19 - 1
8-21986447-C-T c.237G>A p.E79= Synonymous 2/19 - 3
8-21986447-CTC-AAA c.235_237delinsTTT p.E79F Missense 2/19 - 3
8-21986447-CTC-ACA c.235_237delinsTGT p.E79C Missense 2/19 - 2
8-21986448-T-C c.236A>G p.E79G Missense 2/19 - 1
8-21986448-T-G c.236A>C p.E79A Missense 2/19 - 4
8-21986449-C-CAG c.234_235insCT p.E79Lfs*45 Frameshift 2/19 - 1
8-21986449-C-G c.235G>C p.E79Q Missense 2/19 - 1
8-21986449-C-T c.235G>A p.E79K Missense 2/19 - 1
8-21986450-G-A c.234C>T p.G78= Synonymous 2/19 - 1
8-21986450-G-C c.234C>G p.G78= Synonymous 2/19 - 1
8-21986450-GC-CT c.233_234delinsAG p.G78E Missense 2/19 - 1
8-21986450-GCC-TCA c.232_234delinsTGA p.G78* Nonsense 2/19 - 1
8-21986450-G-T c.234C>A p.G78= Synonymous 2/19 - 1
8-21986451-CC-GT c.232_233delinsAC p.G78T Missense 2/19 - 1
8-21986451-C-G c.233G>C p.G78A Missense 2/19 - 1
8-21986450-GC-G c.233del p.G78Afs*45 Frameshift 2/19 - 1
8-21986453-C-A c.231G>T p.E77D Missense 2/19 - 2
8-21986453-C-G c.231G>C p.E77D Missense 2/19 - 2
8-21986453-C-T c.231G>A p.E77= Synonymous 2/19 - 1
8-21986453-CTC-AAA c.229_231delinsTTT p.E77F Missense 2/19 - 2
8-21986453-CTC-ACA c.229_231delinsTGT p.E77C Missense 2/19 - 1
8-21986453-CTC-GAT c.229_231delinsATC p.E77I Missense 2/19 - 1
8-21986454-T-A c.230A>T p.E77V Missense 2/19 - 1
8-21986454-T-G c.230A>C p.E77A Missense 2/19 - 5
8-21986455-C-A c.229G>T p.E77* Nonsense 2/19 - 1
8-21986455-C-G c.229G>C p.E77Q Missense 2/19 - 2
8-21986455-C-T c.229G>A p.E77K Missense 2/19 - 1
8-21986456-CAC-ACA c.226_228delinsTGT p.V76C Missense 2/19 - 2
8-21986457-A-G c.227T>C p.V76A Missense 2/19 - 1
8-21986459-AAG-CAT c.223_225delinsATG p.L75M Missense 2/19 - 1
8-21986460-A-C c.224T>G p.L75R Missense 2/19 - 1
8-21986460-A-G c.224T>C p.L75P Missense 2/19 - 1
8-21986460-AG-GC c.223_224delinsGC p.L75A Missense 2/19 - 2
8-21986461-G-A c.223C>T p.L75F Missense 2/19 - 2
8-21986464-G-A c.220C>T p.P74S Missense 2/19 - 1
8-21986466-A-G c.218T>C p.L73P Missense 2/19 - 1
8-21986469-A-AT c.214dup p.M72Nfs*54 Frameshift 2/19 - 1
8-21986471-G-A c.213C>T p.D71= Synonymous 2/19 - 1
8-21986471-GTC-CTT c.211_213delinsAAG p.D71K Missense 2/19 - 1
8-21986472-TC-AA c.211_212delinsTT p.D71F Missense 2/19 - 2
8-21986472-TC-CA c.211_212delinsTG p.D71C Missense 2/19 - 1
8-21986472-TC-CG c.211_212delinsCG p.D71R Missense 2/19 - 1
8-21986472-T-G c.212A>C p.D71A Missense 2/19 - 4
8-21986474-CTT-ACA c.208_210delinsTGT p.K70C Missense 2/19 - 1
8-21986474-CTT-GTC c.208_210delinsGAC p.K70D Missense 2/19 - 1
8-21986475-T-C c.209A>G p.K70R Missense 2/19 - 22
8-21986475-T-G c.209A>C p.K70T Missense 2/19 - 1
8-21986475-TT-CA c.208_209delinsTG p.K70W Missense 2/19 - 1
8-21986476-T-A c.208A>T p.K70* Nonsense 2/19 - 3
8-21986476-T-C c.208A>G p.K70E Missense 2/19 - 9
8-21986476-T-G c.208A>C p.K70Q Missense 2/19 - 9
8-21986477-GGG-CTC c.205_207delinsGAG p.P69E Missense 2/19 - 2
8-21986478-G-A c.206C>T p.P69L Missense 2/19 - 2
8-21986478-GG-AA c.205_206delinsTT p.P69F Missense 2/19 - 2
8-21986478-GG-CA c.205_206delinsTG p.P69C Missense 2/19 - 2
8-21986479-G-A c.205C>T p.P69S Missense 2/19 - 3
8-21986479-G-C c.205C>G p.P69A Missense 2/19 - 1
8-21986480-G-A c.204C>T p.G68= Synonymous 2/19 - 1
8-21986480-G-C c.204C>G p.G68= Synonymous 2/19 - 1
8-21986480-G-T c.204C>A p.G68= Synonymous 2/19 - 1
8-21986484-T-A c.200A>T p.Q67L Missense 2/19 - 2
8-21986484-TG-GC c.199_200delinsGC p.Q67A Missense 2/19 - 1
8-21986487-G-A c.197C>T p.P66L Missense 2/19 - 1
8-21986488-G-A c.196C>T p.P66S Missense 2/19 - 1
8-21986488-G-C c.196C>G p.P66A Missense 2/19 - 3
8-21986489-G-A c.195C>T p.F65= Synonymous 2/19 - 1
8-21986490-AA-GC c.193_194delinsGC p.F65A Missense 2/19 - 1
8-21986490-AA-TC c.193_194delinsGA p.F65D Missense 2/19 - 2
8-21986490-A-C c.194T>G p.F65C Missense 2/19 - 4
8-21986490-A-G c.194T>C p.F65S Missense 2/19 - 1
8-21986492-GC-CT c.191_192delinsAG p.G64E Missense 2/19 - 1
8-21986493-C-A c.191G>T p.G64V Missense 2/19 - 1
8-21986493-C-G c.191G>C p.G64A Missense 2/19 - 3
8-21986493-C-T c.191G>A p.G64D Missense 2/19 - 1
8-21986494-C-A c.190G>T p.G64C Missense 2/19 - 1
8-21986495-AGG-CTC c.187_189delinsGAG p.P63E Missense 2/19 - 2
8-21986497-G-C c.187C>G p.P63A Missense 2/19 - 1
8-21986484-TGGGGGAAGCCA-T c.189_199del p.F65Pfs*57 Frameshift 2/19 - 1
8-21986499-GG-TC c.184_185delinsGA p.P62D Missense 2/19 - 1
8-21986500-G-C c.184C>G p.P62A Missense 2/19 - 1
8-21986502-AG-GC c.181_182delinsGC p.L61A Missense 2/19 - 2
8-21986502-AG-TC c.181_182delinsGA p.L61D Missense 2/19 - 1
8-21986504-C-A c.180G>T p.W60C Missense 2/19 - 1
8-21986504-C-G c.180G>C p.W60C Missense 2/19 - 1
8-21986505-C-A c.179G>T p.W60L Missense 2/19 - 1
8-21986505-CA-GC c.178_179delinsGC p.W60A Missense 2/19 - 1
8-21986506-A-G c.178T>C p.W60R Missense 2/19 - 1
8-21986506-A-T c.178T>A p.W60R Missense 2/19 - 1
8-21986507-G-C c.177C>G p.S59= Synonymous 2/19 - 1
8-21986507-G-T c.177C>A p.S59= Synonymous 2/19 - 1
8-21986508-G-A c.176C>T p.S59F Missense 2/19 - 1
8-21986508-G-T c.176C>A p.S59Y Missense 2/19 - 1
8-21986509-A-C c.175T>G p.S59A Missense 2/19 - 1
8-21986509-A-T c.175T>A p.S59T Missense 2/19 - 1
8-21986510-G-A c.174C>T p.D58= Synonymous 2/19 - 1
8-21986510-G-C c.174C>G p.D58E Missense 2/19 - 1
8-21986510-G-T c.174C>A p.D58E Missense 2/19 - 1
8-21986511-T-C c.173A>G p.D58G Missense 2/19 - 1
8-21986511-TC-AA c.172_173delinsTT p.D58F Missense 2/19 - 1
8-21986511-TC-GT c.172_173delinsAC p.D58T Missense 2/19 - 1
8-21986511-T-G c.173A>C p.D58A Missense 2/19 - 11
8-21986512-C-T c.172G>A p.D58N Missense 2/19 - 1
8-21986513-TGG-ACA c.169_171delinsTGT p.P57C Missense 2/19 - 1
8-21986514-G-A c.170C>T p.P57L Missense 2/19 - 1
8-21986514-GG-TT c.169_170delinsAA p.P57K Missense 2/19 - 1
8-21986515-G-A c.169C>T p.P57S Missense 2/19 - 1
8-21986515-G-C c.169C>G p.P57A Missense 2/19 - 1
8-21986517-G-A c.167C>T p.T56I Missense 2/19 - 1
8-21986517-GT-TG c.166_167delinsCA p.T56H Missense 2/19 - 4
8-21986518-T-C c.166A>G p.T56A Missense 2/19 - 1
8-21986519-G-A c.165C>T p.S55= Synonymous 2/19 - 1
8-21986520-C-G c.164G>C p.S55T Missense 2/19 - 1
8-21986520-CT-AA c.163_164delinsTT p.S55F Missense 2/19 - 1
8-21986520-CT-GC c.163_164delinsGC p.S55A Missense 2/19 - 3
8-21986521-T-A c.163A>T p.S55C Missense 2/19 - 3
8-21986522-CAG-AAA c.160_162delinsTTT p.L54F Missense 2/19 - 7
8-21986523-AG-CA c.160_161delinsTG p.L54W Missense 2/19 - 1
8-21986523-AG-GC c.160_161delinsGC p.L54A Missense 2/19 - 1
8-21986524-G-C c.160C>G p.L54V Missense 2/19 - 1
8-21986524-G-T c.160C>A p.L54M Missense 2/19 - 2
8-21986525-GAC-CCA c.157_159delinsTGG p.V53W Missense 2/19 - 1
8-21986526-AC-CA c.157_158delinsTG p.V53C Missense 2/19 - 2
8-21986529-CC-GT c.154_155delinsAC p.G52T Missense 2/19 - 4
8-21986529-C-G c.155G>C p.G52A Missense 2/19 - 1
8-21986530-C-A c.154G>T p.G52C Missense 2/19 - 1
8-21986531-CCT-ATG c.151_153delinsCAT p.R51H Missense 2/19 - 1
8-21986532-CT-GC c.151_152delinsGC p.R51A Missense 2/19 - 1
8-21986532-CT-TC c.151_152delinsGA p.R51E Missense 2/19 - 1
8-21986532-CT-TG c.151_152delinsCA p.R51Q Missense 2/19 - 2
8-21986534-C-T c.150G>A p.W50* Nonsense 2/19 - 1
8-21986535-C-T c.149G>A p.W50* Nonsense 2/19 - 1
8-21986537-AAA-CTC c.145_147delinsGAG p.F49E Missense 2/19 - 1
8-21986537-A-G c.147T>C p.F49= Synonymous 2/19 - 2
8-21986538-AA-CC c.145_146delinsGG p.F49G Missense 2/19 - 1
8-21986538-AA-GC c.145_146delinsGC p.F49A Missense 2/19 - 2
8-21986538-A-T c.146T>A p.F49Y Missense 2/19 - 2
8-21986541-G-A c.143C>T p.P48L Missense 2/19 - 1
8-21986541-GG-CA c.142_143delinsTG p.P48C Missense 2/19 - 1
8-21986541-GG-TT c.142_143delinsAA p.P48N Missense 2/19 - 5
8-21986542-G-A c.142C>T p.P48S Missense 2/19 - 2
8-21986543-A-C c.141T>G p.A47= Synonymous 2/19 - 3
8-21986543-A-G c.141T>C p.A47= Synonymous 2/19 - 3
8-21986543-AG-CT c.140_141inv p.A47E Missense 2/19 - 2
8-21986543-A-T c.141T>A p.A47= Synonymous 2/19 - 3
8-21986544-GC-AA c.139_140delinsTT p.A47F Missense 2/19 - 7
8-21986544-GC-CA c.139_140delinsTG p.A47C Missense 2/19 - 8
8-21986544-GC-CG c.139_140delinsCG p.A47R Missense 2/19 - 1
8-21986544-G-T c.140C>A p.A47D Missense 2/19 - 8
8-21986545-C-T c.139G>A p.A47T Missense 2/19 - 2
8-21986546-A-C c.138T>G p.P46= Synonymous 2/19 - 2
8-21986546-A-G c.138T>C p.P46= Synonymous 2/19 - 2
8-21986546-A-T c.138T>A p.P46= Synonymous 2/19 - 2
8-21986547-G-A c.137C>T p.P46L Missense 2/19 - 1
8-21986548-G-A c.136C>T p.P46S Missense 2/19 - 2
8-21986549-C-A c.135G>T p.E45D Missense 2/19 - 2
8-21986549-C-G c.135G>C p.E45D Missense 2/19 - 2
8-21986549-C-T c.135G>A p.E45= Synonymous 2/19 - 3
8-21986549-CTC-AAA c.133_135delinsTTT p.E45F Missense 2/19 - 1
8-21986550-TC-CT c.133_134delinsAG p.E45R Missense 2/19 - 1
8-21986550-T-G c.134A>C p.E45A Missense 2/19 - 5
8-21986551-C-A c.133G>T p.E45* Nonsense 2/19 - 1
8-21986551-C-T c.133G>A p.E45K Missense 2/19 - 1
8-21986553-C-A c.131G>T p.G44V Missense 2/19 - 1
8-21986553-C-G c.131G>C p.G44A Missense 2/19 - 2
8-21986556-A-G c.128T>C p.L43P Missense 2/19 - 2
8-21986556-AG-GC c.127_128delinsGC p.L43A Missense 2/19 - 1
8-21986556-AG-TA c.127_128delinsTA p.L43* Nonsense 2/19 - 1
8-21986557-G-C c.127C>G p.L43V Missense 2/19 - 1
8-21986558-G-A c.126C>T p.C42= Synonymous 2/19 - 1
8-21986558-GCA-CTC c.124_126delinsGAG p.C42E Missense 2/19 - 2
8-21986559-C-A c.125G>T p.C42F Missense 2/19 - 4
8-21986559-CA-GC c.124_125delinsGC p.C42A Missense 2/19 - 1
8-21986559-CA-TC c.124_125delinsGA p.C42D Missense 2/19 - 1
8-21986559-CA-TG c.124_125inv p.C42H Missense 2/19 - 1
8-21986559-C-G c.125G>C p.C42S Missense 2/19 - 4
8-21986560-A-T c.124T>A p.C42S Missense 2/19 - 4
8-21986561-C-A c.123G>T p.L41= Synonymous 2/19 - 1
8-21986561-CAG-AAA c.121_123delinsTTT p.L41F Missense 2/19 - 2
8-21986561-C-G c.123G>C p.L41= Synonymous 2/19 - 1
8-21986561-C-T c.123G>A p.L41= Synonymous 2/19 - 1
8-21986563-G-A c.121C>T p.L41= Synonymous 2/19 - 1
8-21986562-AG-GC c.121_122delinsGC p.L41A Missense 2/19 - 1
8-21986562-AG-TA c.121_122delinsTA p.L41* Nonsense 2/19 - 2
8-21986562-A-T c.122T>A p.L41Q Missense 2/19 - 2
8-21986564-C-A c.120G>T p.P40= Synonymous 2/19 - 1
8-21986564-C-G c.120G>C p.P40= Synonymous 2/19 - 1
8-21986564-CGG-ACA c.118_120delinsTGT p.P40C Missense 2/19 - 1
8-21986564-CGG-GTC c.118_120delinsGAC p.P40D Missense 2/19 - 1
8-21986564-C-T c.120G>A p.P40= Synonymous 2/19 - 1
8-21986565-GG-AT c.118_119delinsAT p.P40M Missense 2/19 - 1
8-21986565-GG-TA c.118_119delinsTA p.P40* Nonsense 2/19 - 1
8-21986566-G-A c.118C>T p.P40S Missense 2/19 - 1
8-21986566-G-C c.118C>G p.P40A Missense 2/19 - 1
8-21986566-G-T c.118C>A p.P40T Missense 2/19 - 1
8-21986567-CCC-ACA c.115_117delinsTGT p.G39C Missense 2/19 - 1
8-21986568-CC-GT c.115_116delinsAC p.G39T Missense 2/19 - 1
8-21986568-C-G c.116G>C p.G39A Missense 2/19 - 2
8-21986571-TG-CC c.112_113delinsGG p.H38G Missense 2/19 - 1
8-21986571-TG-GC c.112_113delinsGC p.H38A Missense 2/19 - 3
8-21986574-T-C c.110A>G p.H37R Missense 2/19 - 2
8-21986574-TG-AC c.109_110delinsGT p.H37V Missense 2/19 - 1
8-21986574-TG-GC c.109_110delinsGC p.H37A Missense 2/19 - 2
8-21986575-G-A c.109C>T p.H37Y Missense 2/19 - 5
8-21986577-AG-CA c.106_107delinsTG p.L36W Missense 2/19 - 1
8-21986577-AG-GC c.106_107delinsGC p.L36A Missense 2/19 - 2
8-21986577-AG-TC c.106_107delinsGA p.L36E Missense 2/19 - 3
8-21986579-TCC-ACA c.103_105delinsTGT p.G35C Missense 2/19 - 3
8-21986579-TCC-GCT c.103_105delinsAGC p.G35S Missense 2/19 - 1
8-21986579-TC-GT c.104_105delinsAC p.G35D Missense 2/19 - 1
8-21986580-C-A c.104G>T p.G35V Missense 2/19 - 2
8-21986580-CC-GG c.103_104inv p.G35P Missense 2/19 - 1
8-21986580-CC-GT c.103_104delinsAC p.G35T Missense 2/19 - 1
8-21986580-C-G c.104G>C p.G35A Missense 2/19 - 3
8-21986581-C-A c.103G>T p.G35* Nonsense 2/19 - 2
8-21986581-C-G c.103G>C p.G35R Missense 2/19 - 3
8-21986581-C-T c.103G>A p.G35R Missense 2/19 - 3
8-21986582-A-C c.102T>G p.D34E Missense 2/19 - 1
8-21986582-A-G c.102T>C p.D34= Synonymous 2/19 - 1
8-21986582-A-T c.102T>A p.D34E Missense 2/19 - 1
8-21986583-T-C c.101A>G p.D34G Missense 2/19 - 1
8-21986583-TC-AA c.100_101delinsTT p.D34F Missense 2/19 - 1
8-21986583-TC-CA c.100_101delinsTG p.D34C Missense 2/19 - 2
8-21986583-T-G c.101A>C p.D34A Missense 2/19 - 3
8-21986589-GG-TC c.94_95delinsGA p.P32D Missense 2/19 - 1
8-21986590-G-A c.94C>T p.P32S Missense 2/19 - 1
8-21986590-G-C c.94C>G p.P32A Missense 2/19 - 1
8-21986592-G-A c.92C>T p.P31L Missense 2/19 - 2
8-21986593-G-T c.91C>A p.P31T Missense 2/19 - 2
8-21986591-CG-C c.92del p.P31Rfs*24 Frameshift 2/19 - 1
8-21986594-GC-CT c.89_90delinsAG p.S30K Missense 2/19 - 1
8-21986594-GCT-CTC c.88_90delinsGAG p.S30E Missense 2/19 - 1
8-21986595-C-T c.89G>A p.S30N Missense 2/19 - 1
8-21986595-CT-GC c.88_89delinsGC p.S30A Missense 2/19 - 6
8-21986595-CT-TG c.88_89delinsCA p.S30H Missense 2/19 - 2
8-21986596-T-A c.88A>T p.S30C Missense 2/19 - 3
8-21986596-T-C c.88A>G p.S30G Missense 2/19 - 1
8-21986598-CC-AT c.85_86delinsAT p.G29I Missense 2/19 - 1
8-21986598-C-G c.86G>C p.G29A Missense 2/19 - 1
8-21986601-GG-CA c.82_83delinsTG p.P28C Missense 2/19 - 1
8-21986601-GG-TC c.82_83delinsGA p.P28D Missense 2/19 - 1
8-21986602-G-A c.82C>T p.P28S Missense 2/19 - 1
8-21986602-G-C c.82C>G p.P28A Missense 2/19 - 1
8-21986602-G-T c.82C>A p.P28T Missense 2/19 - 1
8-21986603-C-A c.81G>T p.E27D Missense 2/19 - 1
8-21986603-C-G c.81G>C p.E27D Missense 2/19 - 1
8-21986603-C-T c.81G>A p.E27= Synonymous 2/19 - 11
8-21986603-CTC-AAA c.79_81delinsTTT p.E27F Missense 2/19 - 1
8-21986603-CTC-ACA c.79_81delinsTGT p.E27C Missense 2/19 - 2
8-21986604-T-A c.80A>T p.E27V Missense 2/19 - 1
8-21986604-T-G c.80A>C p.E27A Missense 2/19 - 1
8-21986605-C-G c.79G>C p.E27Q Missense 2/19 - 6
8-21986606-C-A c.78G>T p.Q26H Missense 2/19 - 1
8-21986606-C-G c.78G>C p.Q26H Missense 2/19 - 1
8-21986607-T-A c.77A>T p.Q26L Missense 2/19 - 1
8-21986607-T-C c.77A>G p.Q26R Missense 2/19 - 2
8-21986608-G-C c.76C>G p.Q26E Missense 2/19 - 1
8-21986609-TCT-ACA c.73_75delinsTGT p.R25C Missense 2/19 - 4
8-21986609-TCT-CCA c.73_75delinsTGG p.R25W Missense 2/19 - 1
8-21986610-C-A c.74G>T p.R25I Missense 2/19 - 1
8-21986610-C-G c.74G>C p.R25T Missense 2/19 - 18
8-21986610-CT-GC c.73_74delinsGC p.R25A Missense 2/19 - 2
8-21986610-CT-GG c.73_74delinsCC p.R25P Missense 2/19 - 3
8-21986610-CT-TC c.73_74delinsGA p.R25E Missense 2/19 - 4
8-21986611-T-C c.73A>G p.R25G Missense 2/19 - 2
8-21986612-CAC-AAA c.70_72delinsTTT p.V24F Missense 2/19 - 1
8-21986612-CAC-ACA c.70_72delinsTGT p.V24C Missense 2/19 - 1
8-21986612-CAC-GAT c.70_72delinsATC p.V24I Missense 2/19 - 1
8-21986613-A-G c.71T>C p.V24A Missense 2/19 - 1
8-21986615-CGA-C c.68_69del p.I23Sfs*102 Frameshift 2/19 - 1
8-21986615-GAT-TTA c.67_69delinsTAA p.I23* Nonsense 2/19 - 1
8-21986616-AT-GC c.67_68delinsGC p.I23A Missense 2/19 - 1
8-21986618-GC-CT c.65_66delinsAG p.G22E Missense 2/19 - 1
8-21986619-C-A c.65G>T p.G22V Missense 2/19 - 1
8-21986619-C-T c.65G>A p.G22D Missense 2/19 - 2
8-21986620-C-T c.64G>A p.G22S Missense 2/19 - 1
8-21986623-T-C c.61A>G p.N21D Missense 2/19 - 1
8-21986624-C-T c.60G>A p.E20= Synonymous 2/19 - 5
8-21986624-CTC-AAA c.58_60delinsTTT p.E20F Missense 2/19 - 3
8-21986625-TC-GT c.58_59delinsAC p.E20T Missense 2/19 - 1
8-21986625-T-G c.59A>C p.E20A Missense 2/19 - 5
8-21986627-TGG-AAA c.55_57delinsTTT p.P19F Missense 2/19 - 1
8-21986628-G-C c.56C>G p.P19R Missense 2/19 - 1
8-21986629-G-C c.55C>G p.P19A Missense 2/19 - 2
8-21986629-G-T c.55C>A p.P19T Missense 2/19 - 1
8-21986630-G-A c.54C>T p.A18= Synonymous 2/19 - 4
8-21986630-G-C c.54C>G p.A18= Synonymous 2/19 - 4
8-21986630-GGC-CAT c.52_54delinsATG p.A18M Missense 2/19 - 1
8-21986630-GGC-CTT c.52_54delinsAAG p.A18K Missense 2/19 - 1
8-21986630-GG-CT c.53_54delinsAG p.A18E Missense 2/19 - 8
8-21986630-GGC-TTA c.52_54delinsTAA p.A18* Nonsense 2/19 - 1
8-21986630-G-T c.54C>A p.A18= Synonymous 2/19 - 4
8-21986631-G-A c.53C>T p.A18V Missense 2/19 - 2
8-21986631-GC-AA c.52_53delinsTT p.A18F Missense 2/19 - 9
8-21986631-GC-AT c.52_53delinsAT p.A18I Missense 2/19 - 1
8-21986631-GC-CA c.52_53delinsTG p.A18C Missense 2/19 - 4
8-21986631-GC-TG c.52_53delinsCA p.A18H Missense 2/19 - 2
8-21986631-G-T c.53C>A p.A18D Missense 2/19 - 11
8-21986633-C-A c.51G>T p.T17= Synonymous 2/19 - 2
8-21986633-C-CA c.50_51insT p.A18Gfs*108 Frameshift 2/19 - 1
8-21986633-C-G c.51G>C p.T17= Synonymous 2/19 - 2
8-21986633-CG-GT c.50_51delinsAC p.T17N Missense 2/19 - 1
8-21986633-CGT-AAA c.49_51delinsTTT p.T17F Missense 2/19 - 1
8-21986633-C-T c.51G>A p.T17= Synonymous 2/19 - 2
8-21986634-G-A c.50C>T p.T17M Missense 2/19 - 1
8-21986634-G-C c.50C>G p.T17R Missense 2/19 - 1
8-21986635-T-A c.49A>T p.T17S Missense 2/19 - 1
8-21986635-T-C c.49A>G p.T17A Missense 2/19 - 2
8-21986636-C-A c.48G>T p.K16N Missense 2/19 - 1
8-21986636-C-G c.48G>C p.K16N Missense 2/19 - 1
8-21986636-CTT-ACA c.46_48delinsTGT p.K16C Missense 2/19 - 1
8-21986637-T-C c.47A>G p.K16R Missense 2/19 - 4
8-21986637-TT-CC c.46_47delinsGG p.K16G Missense 2/19 - 1
8-21986637-TT-GC c.46_47delinsGC p.K16A Missense 2/19 - 2
8-21986637-TT-GG c.46_47delinsCC p.K16P Missense 2/19 - 2
8-21986638-T-G c.46A>C p.K16Q Missense 2/19 - 1
8-21986639-C-A c.45G>T p.E15D Missense 2/19 - 3
8-21986639-C-G c.45G>C p.E15D Missense 2/19 - 3
8-21986639-C-T c.45G>A p.E15= Synonymous 2/19 - 2
8-21986639-CTC-ACA c.43_45delinsTGT p.E15C Missense 2/19 - 2
8-21986640-TC-GA c.43_44inv p.E15S Missense 2/19 - 1
8-21986640-T-G c.44A>C p.E15A Missense 2/19 - 3
8-21986641-C-T c.43G>A p.E15K Missense 2/19 - 1
8-21986643-CA-GC c.40_41delinsGC p.W14A Missense 2/19 - 1
8-21986645-G-A c.39C>T p.T13= Synonymous 2/19 - 2
8-21986645-G-C c.39C>G p.T13= Synonymous 2/19 - 2
8-21986645-G-T c.39C>A p.T13= Synonymous 2/19 - 2
8-21986646-G-T c.38C>A p.T13N Missense 2/19 - 1
8-21986646-GT-CA c.37_38delinsTG p.T13C Missense 2/19 - 2
8-21986647-T-C c.37A>G p.T13A Missense 2/19 - 4
8-21986648-T-A c.36A>T p.P12= Synonymous 2/19 - 1
8-21986648-T-C c.36A>G p.P12= Synonymous 2/19 - 1
8-21986648-T-G c.36A>C p.P12= Synonymous 2/19 - 1
8-21986648-TG-AT c.35_36delinsAT p.P12H Missense 2/19 - 1
8-21986648-TGG-CAT c.34_36delinsATG p.P12M Missense 2/19 - 2
8-21986649-GG-CC c.34_35inv p.P12G Missense 2/19 - 1
8-21986650-G-A c.34C>T p.P12S Missense 2/19 - 3
8-21986650-G-C c.34C>G p.P12A Missense 2/19 - 25
8-21986651-G-A c.33C>T p.T11= Synonymous 2/19 - 1
8-21986651-G-C c.33C>G p.T11= Synonymous 2/19 - 1
8-21986651-GG-CA c.32_33delinsTG p.T11M Missense 2/19 - 1
8-21986651-GGT-CTC c.31_33delinsGAG p.T11E Missense 2/19 - 1
8-21986651-G-T c.33C>A p.T11= Synonymous 2/19 - 1
8-21986652-G-C c.32C>G p.T11S Missense 2/19 - 1
8-21986652-GT-AG c.31_32delinsCT p.T11L Missense 2/19 - 1
8-21986652-GT-CA c.31_32delinsTG p.T11C Missense 2/19 - 2
8-21986653-T-A c.31A>T p.T11S Missense 2/19 - 1
8-21986653-T-C c.31A>G p.T11A Missense 2/19 - 3
8-21986654-G-A c.30C>T p.G10= Synonymous 2/19 - 1
8-21986654-G-C c.30C>G p.G10= Synonymous 2/19 - 1
8-21986654-GCC-CCA c.28_30delinsTGG p.G10W Missense 2/19 - 1
8-21986654-GCC-CTT c.28_30delinsAAG p.G10K Missense 2/19 - 1
8-21986654-GC-CT c.29_30delinsAG p.G10E Missense 2/19 - 1
8-21986654-GCC-TCA c.28_30delinsTGA p.G10* Nonsense 2/19 - 1
8-21986654-G-T c.30C>A p.G10= Synonymous 2/19 - 1
8-21986655-C-A c.29G>T p.G10V Missense 2/19 - 1
8-21986655-CC-GG c.28_29inv p.G10P Missense 2/19 - 1
8-21986655-CC-GT c.28_29delinsAC p.G10T Missense 2/19 - 1
8-21986655-CC-TG c.28_29delinsCA p.G10H Missense 2/19 - 4
8-21986655-C-G c.29G>C p.G10A Missense 2/19 - 2
8-21986656-C-A c.28G>T p.G10C Missense 2/19 - 1
8-21986656-C-T c.28G>A p.G10S Missense 2/19 - 4
8-21986657-C-T c.27G>A p.K9= Synonymous 2/19 - 2
8-21986660-C-A c.24G>T p.L8= Synonymous 2/19 - 1
8-21986660-C-G c.24G>C p.L8= Synonymous 2/19 - 1
8-21986660-C-T c.24G>A p.L8= Synonymous 2/19 - 1
8-21986662-G-A c.22C>T p.L8= Synonymous 2/19 - 1
8-21986666-G-A c.18C>T p.S6= Synonymous 2/19 - 2
8-21986669-G-A c.15C>T p.P5= Synonymous 2/19 - 4
8-21986669-G-C c.15C>G p.P5= Synonymous 2/19 - 4
8-21986669-G-T c.15C>A p.P5= Synonymous 2/19 - 4
8-21986671-G-A c.13C>T p.P5S Missense 2/19 - 1
8-21986671-G-GTTTC c.12_13insGAAA p.P5Efs*122 Frameshift 2/19 - 1
8-21986672-C-A c.12G>T p.T4= Synonymous 2/19 - 26
8-21986672-C-G c.12G>C p.T4= Synonymous 2/19 - 26
8-21986672-C-T c.12G>A p.T4= Synonymous 2/19 - 26
8-21986674-T-TTCCA c.9_10insTGGA p.T4Wfs*123 Frameshift 2/19 - 1
8-21986675-ACT-TCA c.7_9delinsTGA p.S3* Nonsense 2/19 - 1
8-21986675-A-G c.9T>C p.S3= Synonymous 2/19 - 12
8-21986678-C-T c.6G>A p.E2= Synonymous 2/19 - 34
8-21986680-C-T c.4G>A p.E2K Missense 2/19 - 1
8-21986683-T-C c.1A>G p.M1? Missense 2/19 - 2