Galafold(migalastat)

AMENABILITY TABLE

Galafold (migalastat) Amenability Table

Last Updated: 11 May 2017

Nucleotide Change Nucleotide Change Protein Sequence Change
c.7C>Gc.C7GL3V
c.8T>Cc.T8CL3P
c.[11G>T; 620A>C]c.G11T/A620CR4M/Y207S
c.37G>Ac.G37AA13T
c.37G>Cc.G37CA13P
c.43G>Ac.G43AA15T
c.44C>Gc.C44GA15G
c.53T>Gc.T53GF18C
c.58G>Cc.G58CA20P
c.59C>Ac.C59AA20D
c.70T>C or c.70T>Ac.T70C or c.T70AW24R
c.70T>Gc.T70GW24G
c.72G>C or c.72G>Tc.G72C or c.G72TW24C
c.95T>Cc.T95CL32P
c.97G>Tc.G97TD33Y
c.98A>Gc.A98GD33G
c.100A>Gc.A100GN34D
c.101A>Cc.A101CN34T
c.101A>Gc.A101GN34S
c.102T>G or c.102T>Ac.T102G or c.T102AN34K
c.103G>C or c.103G>Ac.G103C or c.G103AG35R
c.104G>Ac.G104AG35E
c.104G>Tc.G104TG35V
c.107T>Cc.T107CL36S
c.107T>Gc.T107GL36W
c.108G>C or c.108G>Tc.G108C or c.G108TL36F
c.109G>Ac.G109AA37T
c.110C>Tc.C110TA37V
c.122C>Tc.C122TT41I
c.124A>C or c.124A>Tc.A124C or c.A124TM42L
c.124A>Gc.A124GM42V
c.125T>Ac.T125AM42K
c.125T>Cc.T125CM42T
c.125T>Gc.T125GM42R
c.126G>A or c.126G>C or c.126G>Tc.G126A or c.G126C or c.G126TM42I
c.137A>Cc.A137CH46P
c.142G>Cc.G142CE48Q
c.152T>Ac.T152AM51K
c.153G>A or c.153G>T or c.153G>Cc.G153A or c.G153T or c.G153CM51I
c.157A>Gc.A157GN53D
c.[157A>C; 158A>T]c. A157C/A158TN53L
c.160C>Tc.C160TL54F
c.161T>Cc.T161CL54P
c.164A>Gc.A164GD55G
c.164A>Tc.A164TD55V
c.[164A>T; 170A>T]c.A164T/A170TD55V/Q57L
c.167G>Tc.G167TC56F
c.167G>Ac.G167AC56Y
c.170A>Tc.A170TQ57L
c.175G>Ac.G175AE59K
c.178C>Ac.C178AP60T
c.178C>Tc.C178TP60S
c.179C>Tc.C179TP60L
c.196G>Ac.G196AE66K
c.197A>Gc.A197GE66G
c.207C>A or c.207C>Gc.C207A or c.C207GF69L
c.214A>Gc.A214GM72V
c.216G>A or c.216G>T or c.216G>Cc.G216A or c.G216T or c.G216CM72I
c.218C>Tc.C218TA73V
c.227T>Cc.T227CM76T
c.239G>Ac.G239AG80D
c.247G>Ac.G247AD83N
c.253G>Ac.G253AG85S
c.254G>Ac.G254AG85D
c.[253G>A; 254G>A]c.G253A/G254AG85N
c.[253G>A; 254G>T; 255T>G]c. G253A/G254T/T255GG85M
c.261G>C or c.261G>Tc.G261C or c.G261TE87D
c.265C>Tc.C265TL89F
c.272T>Cc.T272CI91T
c.288G>A or c.288G>T or c.288G>Cc.G288A or c.G288T or c.G288CM96I
c.289G>Cc.G289CA97P
c.290C>Tc.C290TA97V
c.305C>Tc.C305TS102L
c.311G>Tc.G311TG104V
c.316C>Tc.C316TL106F
c.322G>Ac.G322AA108T
c.326A>Gc.A326GD109G
c.334C>Gc.C334GR112G
c.335G>Ac.G335AR112H
c.337T>Ac.T337AF113I
c.337T>C or c.339T>A or c.339T>Gc.T337C or c.T339A or c.T339GF113L
c.352C>Tc.C352TR118C
c.361G>Ac.G361AA121T
c.368A>Gc.A368GY123C
c.373C>Tc.C373TH125Y
c.374A>Tc.A374TH125L
c.376A>Gc.A376GS126G
c.383G>Ac.G383AG128E
c.399T>Gc.T399GI133M
c.404C>Tc.C404TA135V
c.408T>A or c.408T>Gc.T408A or c.T408GD136E
c.416A>Gc.A416GN139S
c.419A>Cc.A419CK140T
c.427G>Ac.G427AA143T
c.431G>Ac.G431AG144D
c.431G>Tc.G431TG144V
c.434T>Cc.T434CF145S
c.436C>Tc.C436TP146S
c.437C>Gc.C437GP146R
c.454T>Cc.T454CY152H
c.455A>Gc.A455GY152C
c.466G>Ac.G466AA156T
c.467C>Tc.C467TA156V
c.471G>C or c.471G>Tc.G471C or c.G471TQ157H
c.484T>Gc.T484GW162G
c.493G>Cc.G493CD165H
c.494A>Gc.A494GD165G
c.[496C>G; 497T>G]c.C496G/T497GL166G
c.496C>Gc.C496GL166V
c.496_497delinsTCc.496_497delinsTCL166S
c.499C>Gc.C499GL167V
c.506T>Cc.T506CF169S
c.511G>Ac.G511AG171S
c.520T>Cc.T520CC174R
c.520T>Gc.T520GC174G
c.525C>G or c.525 C>Ac.C525G or c.C525AD175E
c.539T>Gc.T539GL180W
c.540G>Cc.G540CL180F
c.548G>Cc.G548CG183A
c.548G>Ac.G548AG183D
c.550T>Ac.T550AY184N
c.551A>Gc.A551GY184C
c.553A>Gc.A553GK185E
c.559A>Gc.A559GM187V
c.559_564dupc.559_564dupp.M187_S188dup
c.560T>Cc.T560CM187T
c.561G>T or c.561G>A or c.561G>Cc.G561T or c.G561A or c.G561CM187I
c.572T>Ac.T572AL191Q
c.581C>Tc.C581TT194I
c.584G>Tc.G584TG195V
c.586A>Gc.A586GR196G
c.593T>Cc.T593CI198T
c.595G>Ac.G595AV199M
c.596T>Cc.T596CV199A
c.596T>Gc.T596GV199G
c.599A>Gc.A599GY200C
c.602C>Tc.C602TS201F
c.602C>Ac.C602AS201Y
c.608A>Tc.A608TE203V
c.609G>C or c.609G>Tc.G609C or c.G609TE203D
c.613C>Ac.C613AP205T
c.613C>Tc.C613TP205S
c.614C>Tc.C614TP205L
c.619T>Cc.T619CY207H
c.620A>Cc.A620CY207S
c.623T>Gc.T623GM208R
c.628C>Tc.C628TP210S
c.629C>Tc.C629TP210L
c.638A>Gc.A638GK213R
c.638A>Tc.A638TK213M
c.640C>Tc.C640TP214S
c.641C>Tc.C641TP214L
c.643A>Gc.A643GN215D
c.644A>Gc.A644GN215S
c.644A>Tc.A644TN215I
c.[644A>G; 937G>T]c.A644G/G937TN215S/D313Y
c.646T>Gc.T646GY216D
c.647A>Gc.A647GY216C
c.655A>Cc.A655CI219L
c.656T>Ac.T656AI219N
c.656T>Cc.T656CI219T
c.659G>Ac.G659AR220Q
c.659G>Cc.G659CR220P
c.662A>Cc.A662CQ221P
c.671A>Cc.A671CN224T
c.671A>Gc.A671GN224S
c.673C>Gc.C673GH225D
c.683A>Gc.A683GN228S
c.687T>A or c.687T>Gc.T687A or c.T687GF229L
c.695T>Cc.T695CI232T
c.713G>Ac.G713AS238N
c.716T>Cc.T716CI239T
c.720G>C or c.720G>Tc.G720C or c.G720TK240N
c.724A>Gc.A724GI242V
c.724A>Tc.A724TI242F
c.725T>Ac.T725AI242N
c.725T>Cc.T725CI242T
c.728T>Gc.T728GL243W
c.729G>C or c.729G>Tc.G729C or c.G729TL243F
c.730G>Ac.G730AD244N
c.730G>Cc.G730CD244H
c.733T>Gc.T733GW245G
c.740C>Gc.C740GS247C
c.747C>G or c.747C>Ac.C747G or c.C747AN249K
c.749A>Cc.A749CQ250P
c.749A>Gc.A749GQ250R
c.750G>Cc.G750CQ250H
c.758T>Cc.T758CI253T
c.758T>Gc.T758GI253S
c.760-762delGTTc.760_762delGTTp.V254del
c.769G>Cc.G769CA257P
c.770C>Gc.C770GA257G
c.772G>C or c.772G>Ac.G772C or c.G772AG258R
c.773G>Tc.G773TG258V
c.776C>Gc.C776GP259R
c.776C>Tc.C776TP259L
c.779G>Ac.G779AG260E
c.779G>Cc.G779CG260A
c.781G>Ac.G781AG261S
c.781G>Cc.G781CG261R
c.781G>Tc.G781TG261C
c.788A>Gc.A788GN263S
c.790G>Tc.G790TD264Y
c.794C>Tc.C794TP265L
c.800T>Cc.T800CM267T
c.805G>Ac.G805AV269M
c.806T>Cc.T806CV269A
c.809T>Cc.T809CI270T
c.810T>Gc.T810GI270M
c.811G>Ac.G811AG271S
c.[811G>A; 937G>T]c.G811A/G937TG271S/D313Y
c.812G>Ac.G812AG271D
c.823C>Gc.C823GL275V
c.827G>Ac.G827AS276N
c.829T>Gc.T829GW277G
c.831G>T or c.831G>Cc.G831T or c.G831CW277C
c.832A>Tc.A832TN278Y
c.835C>Gc.C835GQ279E
c.838C>Ac.C838AQ280K
c.840A>T or c.840A>Cc.A840T or c.A840CQ280H
c.844A>Gc.A844GT282A
c.845C>Tc.C845TT282I
c.850A>Gc.A850GM284V
c.851T>Cc.T851CM284T
c.860G>Tc.G860TW287L
c.862G>Cc.G862CA288P
c.866T>Gc.T866GI289S
c.868A>C or c.868A>Tc.A868C or c.A868TM290L
c.869T>Cc.T869CM290T
c.870G>A or c.870G>C or c.870G>Tc.G870A or c.G870C or c.G870TM290I
c.871G>Ac.G871AA291T
c.877C>Ac.C877AP293T
c.881T>Cc.T881CL294S
c.884T>Gc.T884GF295C
c.886A>Gc.A886GM296V
c.886A>T or c.886A>Cc.A886T or c.A886CM296L
c.887T>Cc.T887CM296T
c.888G>A or c.888G>T or c.888G>Cc.G888A or c.G888T or c.G888CM296I
c.893A>Gc.A893GN298S
c.897C>G or c.897C>Ac.C897G or c.C897AD299E
c.898C>Tc.C898TL300F
c.899T>Cc.T899CL300P
c.901C>Gc.C901GR301G
c.902G>Cc.G902CR301P
c.902G>Ac.G902AR301Q
c.902G>Tc.G902TR301L
c.907A>Tc.A907TI303F
c.908T>Ac.T908AI303N
c.911G>Ac.G911AS304N
c.911G>Cc.G911CS304T
c.919G>Ac.G919AA307T
c.922A>Gc.A922GK308E
c.924A>T or c.924A>Cc.A924T or c.A924CK308N
c.925G>Cc.G925CA309P
c.926C>Tc.C926TA309V
c.928C>Tc.C928TL310F
c.931C>Gc.C931GL311V
c.935A>Gc.A935GQ312R
c.936G>T or c.936G>Cc.G936T or c.G936CQ312H
c.937G>Tc.G937TD313Y
c.[937G>T; 1232G>A]c.G937T/G1232AD313Y/G411D
c.938A>Gc.A938GD313G
c.946G>Ac.G946AV316I
c.947T>Gc.T947GV316G
c.950T>Cc.T950CI317T
c.955A>Tc.A955TI319F
c.956T>Cc.T956CI319T
c.959A>Tc.A959TN320I
c.962A>Gc.A962GQ321R
c.962A>Tc.A962TQ321L
c.963G>C or c.963G>Tc.G963C or c.G963TQ321H
c.964G>Ac.G964AD322N
c.964G>Cc.G964CD322H
c.966C>A or c.966C>Gc.C966A or c.C966GD322E
c.968C>Gc.C968GP323R
c.973G>Ac.G973AG325S
c.973G>Cc.G973CG325R
c.978G>C or c.978G>Tc.G978C or c.G978TK326N
c.979C>Gc.C979GQ327E
c.980A>Tc.A980TQ327L
c.983G>Cc.G983CG328A
c.989A>Gc.A989GQ330R
c.1001G>Ac.G1001AG334E
c.1010T>Cc.T1010CF337S
c.1012G>Ac.G1012AE338K
c.1016T>Ac.T1016AV339E
c.1027C>Ac.C1027AP343T
c.1028C>Tc.C1028TP343L
c.1033T>Cc.T1033CS345P
c.1046G>Cc.G1046CW349S
c.1055C>Gc.C1055GA352G
c.1055C>Tc.C1055TA352V
c.1061T>Ac.T1061AI354K
c.1066C>Gc.C1066GR356G
c.1066C>Tc.C1066TR356W
c.1067G>Ac.G1067AR356Q
c.1067G>Cc.G1067CR356P
c.1072G>Cc.G1072CE358Q
c.1073A>Cc.A1073CE358A
c.1073A>Gc.A1073GE358G
c.1074G>T or c.1074G>Cc.G1074T or c.G1074CE358D
c.1076T>Cc.T1076CI359T
c.1078G>Ac.G1078AG360S
c.1078G>Tc.G1078TG360C
c.1079G>Ac.G1079AG360D
c.1082G>Ac.G1082AG361E
c.1082G>Cc.G1082CG361A
c.1084C>Ac.C1084AP362T
c.1085C>Tc.C1085TP362L
c.1087C>Tc.C1087TR363C
c.1088G>Ac.G1088AR363H
c.1102G>Ac.G1102AA368T
c.1117G>Ac.G1117AG373S
c.1124G>Ac.G1124AG375E
c.1153A>Gc.A1153GT385A
c.1168G>Ac.G1168AV390M
c.1172A>Cc.A1172CK391T
c.1184G>Ac.G1184AG395E
c.1184G>Cc.G1184CG395A
c.1192G>Ac.G1192AE398K
c.1202_1203insGACTTCc.1202_1203insGACTTCp.T400_S401dup
c.1208T>Cc.T1208CL403S
c.1225C>Gc.C1225GP409A
c.1225C>Tc.C1225TP409S
c.1225C>Ac.C1225AP409T
c.1228A>Gc.A1228GT410A
c.1229C>Tc.C1229TT410I
c.1232G>Ac.G1232AG411D
c.1235C>Ac.C1235AT412N
c.1253A>Gc.A1253GE418G
c.1261A>Gc.A1261GM421V
Nucleotide Change Nucleotide Change Protein Sequence Change
c.1A>C or c.1A>Tc.A1C or c.A1TM1L
c.1A>Gc.A1GM1V
c.2T>Gc.T2GM1R
c.2T>Cc.T2CM1T
c.2T>Ac.T2AM1K
c.3G>A or c.3G>T or c.3G>Cc.G3A or c.G3T or c.G3CM1I
c.19G>Tc.G19TE7X
c.41T>Cc.T41CL14P
c.43G>Cc.G43CA15P
c.44C>Ac.C44AA15E
c.46C>Gc.C46GL16V
c.47T>Ac.T47AL16H
c.47T>Cc.T47CL16P
c.47T>Gc.T47GL16R
c.53T>Cc.T53CF18S
c.56T>Ac.T56AL19Q
c.56T>Cc.T56CL19P
c.59C>Tc.C59TA20V
c.61C>Tc.C61TL21F
c.62T>Cc.T62CL21P
c.62T>Gc.T62GL21R
c.71G>A or c.72G>Ac.G71A or c.G72AW24X
c.92C>Tc.C92TA31V
c.109G>Cc.G109CA37P
c.118C>Gc.C118GP40A
c.118C>Tc.C118TP40S
c.119C>Ac.C119AP40H
c.119C>Gc.C119GP40R
c.119C>Tc.C119TP40L
c.127G>Cc.G127CG43R
c.127G>Ac.G127AG43S
c.128G>Ac.G128AG43D
c.128G>Tc.G128TG43V
c.131G>A or c.132G>Ac.G131A or c.G132AW44X
c.132G>T or c.132G>Cc.G132T or c.G132CW44C
c.134T>Cc.T134CL45P
c.134T>Gc.T134GL45R
c.134_138delTGCACinsGCTCGc.134_138delTGCACinsGCTCGL45R/H46S
c.136C>Tc.C136TH46Y
c.137A>Tc.A137TH46L
c.137A>Gc.A137GH46R
c.[138C>G; 153G>T; 167G>T]c.C138G/G153T/G167TH46Q/M51I/C56F
c.139T>C or c.139T>Ac.T139C or c.T139A W47R
c.139T>Gc.T139GW47G
c.140G>A or 141G>Ac.G140A or G141AW47X
c.140G>Tc.G140TW47L
c.141G>C or c.141G>Tc.G141C or c.G141TW47C
c.142G>Ac.G142AE48K
c.144G>T or c.144G>Cc.G144T or c.G144CE48D
c.145C>Tc.C145TR49C
c.145C>Ac.C145AR49S
c.145C>Gc.C145GR49G
c.146G>Cc.G146CR49P
c.146G>Tc.G146TR49L
c.149T>Gc.T149GF50C
c.154T>Gc.T154GC52G
c.154T>Cc.T154CC52R
c.154T>A or c.155G>Cc.T154A or c.G155CC52S
c.155G>Ac.G155AC52Y
c.156C>Ac.C156AC52X
c.156C>Gc.C156GC52W
c.166T>Gc.T166GC56G
c.166T>A or c.167G>Cc.T166A or c.G167CC56S
c.168C>Ac.C168AC56X
c.187T>Cc.T187CC63R
c.188G>Ac.G188AC63Y
c.187T>A or c.188G>Cc.T187A or c.G188CC63S
c.194G>C (putative splicing site)c.G194C (putative splicing site)UNKNOWN (S65T )
c.194G>T (putative splicing site)c.G194T (putative splicing site)UNKNOWN (S65I )
c.196G>Cc.G196CE66Q
c.[196G>C; 1061T>A]c.G196C/T1061AE66Q/I354K
c.202C>Tc.C202TL68F
c.206T>Cc.T206CF69S
c.208A>Gc.A208GM70V
c.215T>Gc.T215GM72R
c.218C>Ac.C218AA73E
c.227T>Gc.T227GM76R
c.228G>C or c.228G>A or c.228G>Tc.G228C or c.G228A or c.G228TM76I
c.233C>G or c.233C>Ac.C233G or c.C233AS78X
c.235G>Tc.G235TE79X
c.241T>C or c.241T>Ac.T241C or c.T241AW81R
c.242G>A or c.243G>Ac.G242A or c.G243AW81X
c.242G>Cc.G242CW81S
c.243G>T or c.243G>Cc.G243T or c.G243CW81C
c.244A>Tc.A244TK82X
c.256T>Gc.T256GY86D
c.256T>Cc.T256CY86H
c.257A>Gc.A257GY86C
c.258T>G or c.258T>Ac.T258G or c.T258AY86X
c.262T>Gc.T262GY88D
c.266T>Ac.T266AL89H
c.266T>Cc.T266CL89P
c.266T>Gc.T266GL89R
c.268T>Cc.T268CC90R
c.269G>Ac.G269AC90Y
c.270C>Ac.C270AC90X
c.274G>Cc.G274CD92H
c.274G>Ac.G274AD92N
c.274G>Tc.G274TD92Y
c.275A>Gc.A275GD92G
c.275A>Tc.A275TD92V
c.277G>Ac.G277AD93N
c.277G>Tc.G277TD93Y
c.278A>Gc.A278GD93G
c.278A>Tc.A278TD93V
c.279C>G or c.279C>Ac.C279G or c.C279AD93E
c.280T>Gc.T280GC94G
c.280T>A or c.281G>Cc.T280A or c.G281CC94S
c.[280T>A; 281G>C]c.T280A/G281CC94T
c.281G>Ac.G281AC94Y
c.281G>Tc.G281TC94F
c.283T>Gc.T283GW95G
c.284G>A or c.285G>Ac.G284A or c.G285AW95X
c.284G>Tc.G284TW95L
c.284G>Cc.G284CW95S
c.285G>T or c.285G>Cc.G285T or c.G285CW95C
c.295C>Tc.C295TQ99X
c.299G>Ac.G299AR100K
c.299G>Cc.G299CR100T
c.305C>G or c.305C>Ac.C305G or c.C305AS102X
c.307G>Cc.G307CE103Q
c.307G>Tc.G307TE103X
c.317T>Gc.T317GL106R
c.319C>Tc.C319TQ107X
c.320A>Tc.A320TQ107L
c.331C>Tc.C331TQ111X
c.334C>Tc.C334TR112C
c.334C>Ac.C334AR112S
c.338T>Cc.T338CF113S
c.347G>Tc.G347TG116V
c.350T>Gc.T350GI117S
c.355C>Tc.C355TQ119X
c.354_368del15c.354_368del15Q119_Y123del5
c.358C>Gc.C358GL120V
c.[358C>T; 359T>C]c.C358T/T359CL120S
c.359T>Cc.T359CL120P
c.[359T>C; 361G>A] c.T359C/G361AL120P/A121T
c.361G>Cc.G361CA121P
c.369T>G or c.369T>Ac.T369G or c.T369AY123X
c.371T>Ac.T371AV124D
c.374A>Cc.A374CH125P
c.379A>Tc.A379TK127X
c.386T>Cc.T386CL129P
c.389A>Gc.A389GK130R
c.392T>Ac.T392AL131Q
c.392T>Cc.T392CL131P
c.394G>A or c.394G>Cc.G394A or c.G394CG132R
c.395G>Ac.G395AG132E
c.395G>Cc.G395CG132A
c.398T>Ac.T398AI133N
c.400T>Cc.T400CY134H
c.400T>Gc.T400GY134D
c.401A>Cc.A401CY134S
c.402T>G or c.402T>Ac.T402G or c.T402AY134X
c.406G>Cc.G406CD136H
c.406G>Tc.G406TD136Y
c.412G>A or c.412G>Cc.G412A or c.G412CG138R
c.413G>Ac.G413AG138E
c.416A>Cc.A416CN139T
c.422C>Ac.C422AT141N
c.422C>Tc.C422TT141I
c.424T>Cc.T424CC142R
c.425G>Ac.G425AC142Y
c.426C>Ac.C426AC142X
c.426C>Gc.C426GC142W
c.427G>Cc.G427CA143P
c.439G>A or c.439G>Cc.G439A or c.G439CG147R
c.440G>Ac.G440AG147E
c.443G>Ac.G443AS148N
c.442A>C or c.444T>A or c.444T>Gc.A442C or c.T444A or c.T444GS148R
c.453C>G or c.453C>Ac.C453G or c.C453AY151X
c.456C>A or c.456C>Gc.C456A or c.C456GY152X
c.463G>Cc.G463CD155H
c.467C>Ac.C467AA156D
c.469C>Tc.C469TQ157X
c.484T>C or c.484T>Ac.T484C or c.T484AW162R
c.485G>A or c.486G>Ac.G485A or c.G486AW162X
c.485G>Tc.G485TW162L
c.486G>C or c.486G>Tc.G486C or c.G486TW162C
c.488G>Tc.G488TG163V
c.491T>Gc.T491GV164G
c.493G>Tc.G493TD165Y
c.494A>Tc.A494TD165V
c.500T>Ac.T500AL167Q
c.500T>Cc.T500CL167P
c.503A>Gc.A503GK168R
c.504A>C or c.504A>Tc.A504C or c.A504TK168N
c.508G>Ac.G508AD170N
c.508G>Cc.G508CD170H
c.509A>Gc.A509GD170G
c.509A>Tc.A509TD170V
c.511G>Cc.G511CG171R
c.511G>Tc.G511TG171C
c.512G>Ac.G512AG171D
c.514T>Gc.T514GC172G
c.514T>Cc.T514CC172R
c.514T>A or c.515G>Cc.T514A or c.G515CC172S
c.515G>Tc.G515TC172F
c.515G>Ac.G515AC172Y
c.516T>Gc.T516GC172W
c.519C>A or c.519C>Gc.C519A or c.C519GY173X
c.522T>Ac.T522AC174X
c.523G>Ac.G523AD175N
c.530T>Ac.T530AL177X
c.547G>A (putative splicing site)c.G547A (putative splicing site)UNKNOWN (G183S )
c.548G>Tc.G548TG183V
c.552T>A or c.552T>Gc.T552A or c.T552GY184X
c.553A>Tc.A553TK185X
c.557A>Cc.A557CH186P
c.560T>Gc.T560GM187R
c.572T>Cc.T572CL191P
c.588A>T or c.588A>Cc.A588T or c.A588CR196S
c.601T>Cc.T601CS201P
c.604T>Cc.T604CC202R
c.605G>Ac.G605AC202Y
c.606T>Gc.T606GC202W
c.607G>Ac.G607AE203K
c.610T>C or c.610T>Ac.T610C or c.T610AW204R
c.611G>A or 612G>Ac.G611A or G612AW204X
c.612G>T or c.612G>Cc.G612T or c.G612CW204C
c.614C>Gc.C614GP205R
c.617T>Cc.T617CL206P
c.620A>Gc.A620GY207C
c.626G>Ac.G626AW209X
c.634C>Tc.C634TQ212X
c.639G>A (putative splicing site)c.G639A (putative splicing site)UNKNOWN
c.[644A>G; 811G>A] c.A644G/G811AN215S/G271S
c.[644A>G; 811G>A; 937G>T]c.A644G/G811A/G937TN215S/G271S/D313Y
c.648T>A or c.648T>Gc.T648A or c.T648GY216X
c.658C>Tc.C658TR220X
c.661C>Tc.C661TQ221X
c.666C>A or c.666C>Gc.C666A or c.C666GY222X
c.667T>Gc.T667GC223G
c.667T>Cc.T667CC223R
c.668G>Ac.G668AC223Y
c.670A>Gc.A670GN224D
c.674A>Gc.A674GH225R
c.676T>C or c.676T>Ac.T676C or c.T676AW226R
c.677G>A or c.678G>Ac.G677A or c.G678AW226X
c.678G>T or c.678G>Cc.G678T or c.G678CW226C
c.679C>Tc.C679TR227X
c.680G>Ac.G680AR227Q
c.680G>Cc.G680CR227P
c.688G>Ac.G688AA230T
c.691G>Ac.G691AD231N
c.692A>Gc.A692GD231G
c.692A>Tc.A692TD231V
c.695T>Gc.T695GI232S
c.700G>Tc.G700TD234Y
c.701A>Tc.A701TD234V
c.702T>G or c.702T>Ac.T702G or c.T702AD234E
c.704C>Ac.C704AS235Y
c.704C>Gc.C704GS235C
c.704C>Tc.C704TS235F
c.706T>C or c.706T>Ac.T706C or c.T706AW236R
c.707G>A or c.708G>Ac.G707A or c.G708AW236X
c.707G>Tc.G707TW236L
c.708G>C or c.708G>Tc.G708C or c.G708TW236C
c.712A>C or c.714T>A or c.714T>Gc.A712C or c.T714A or c.T714GS238R
c.718A>Tc.A718TK240X
c.734G>A or c.735G>Ac.G734A or c.G735AW245X
c.734G>Tc.G734TW245L
c.739T>Cc.T739CS247P
c.748C>Tc.C748TQ250X
c.751G>Tc.G751TE251X
c.755G>Cc.G755CR252T
c.770C>Ac.C770AA257D
c.778G>C or c.778G>Ac.G778C or c.G778AG260R
c.782G>Ac.G782AG261D
c.782G>Tc.G782TG261V
c.784T>A or c.784T>Cc.T784A or c.T784CW262R
c.785G>A or c.786G>Ac.G785A or c.G786AW262X
c.785G>Tc.G785TW262L
c.786G>C or c.786G>Tc.G786C or c.G786TW262C
c.789T>A or c.789T>Gc.T789A or c.T789GN263K
c.790G>T; c.805G>Ac.G790T/G805AD264Y/V269M
c.791A>Cc.A791CD264A
c.791A>Tc.A791TD264V
c.793C>Tc.C793TP265S
c.794C>Gc.C794GP265R
c.796G>Cc.G796CD266H
c.796G>Tc.G796TD266Y
c.796G>Ac.G796AD266N
c.797A>Cc.A797CD266A
c.797A>Gc.A797GD266G
c.797A>Tc.A797TD266V
c.798T>A or c.798T>Gc.T798A or c.T798GD266E
c.800T>Gc.T800GM267R
c.801G>A (putative splicing site)c.G801A (putative splicing site)UNKNOWN (M267I )
c.803T>Cc.T803CL268S
c.806T>Ac.T806AV269E
c.[806T>G;937G>T]c.T806G/G937TV269G/D313Y
c.808A>Tc.A808TI270F
c.811G>Tc.G811TG271C
c.812G>Tc.G812TG271V
c.815A>Gc.A815GN272S
c.816C>A or c.816C>Gc.C816A or c.C816GN272K
c.817T>C or c.819T>A or c.819T>Gc.T817C or c.T819A or c.T819GF273L
c.820G>Ac.G820AG274S
c.820G>Tc.G820TG274C
c.821G>Tc.G821TG274V
c.823C>Tc.C823TL275F
c.824T>Ac.T824AL275H
c.826A>Gc.A826GS276G
c.826A>Tc.A826TS276C
c.830G>A or c.831G>Ac.G830A or c.G831AW277X
c.835C>Tc.C835TQ279X
c.835C>Ac.C835AQ279K
c.836A>Gc.A836GQ279R
c.837G>C or c.837G>Tc.G837C or c.G837TQ279H
c.838C>Tc.C838TQ280X
c.845C>Ac.C845AT282N
c.847C>Tc.C847TQ283X
c.848A>Cc.A848CQ283P
c.848A>Gc.A848GQ283R
c.853G>Cc.G853CA285P
c.854C>Ac.C854AA285D
c.859T>Corc.859T>Ac.T859Corc.T859AW287R
c.859T>Gc.T859GW287G
c.860G>A or c.861G>Ac.G860A or c.G861AW287X
c.861G>C or c.861G>Tc.G861C or c.G861TW287C
c.863C>Ac.C863AA288D
c.865A>Tc.A865TI289F
c.871G>Cc.G871CA291P
c.874G>Ac.G874AA292T
c.874G>Cc.G874CA292P
c.875C>Tc.C875TA292V
c.877C>Gc.C877GP293A
c.877C>Tc.C877TP293S
c.878C>Ac. C878AP293H
c.878C>Tc. C878TP293L
c.881T>G or c.881T>Ac.T881G or c.T881AL294X
c.890C>Gc. C890GS297C
c.890C>Tc.C890TS297F
c.892A>Cc.A892CN298H
c.894T>G or c.894T>Ac.T894G or c.T894AN298K
c.896A>Gc.A896GD299G
c.899T>Ac.T899AL300H
c.901C>Tc.C901TR301X
c.916C>Tc.C916TQ306X
c.929T>Gc.T929GL310R
c.931C>Tc.C931TL311F
c.932T>Cc.T932CL311P
c.932T>Gc.T932GL311R
c.934C>Tc.C934TQ312X
c.935A>Cc.A935CQ312P
c.947T>Ac.T947AV316E
c.949A>Tc.A949TI317F
c.950T>Ac.T950AI317N
c.950T>Gc.T950GI317S
c.958A>Tc.A958TN320Y
c.960T>G or c.960T>Ac.T960G or c.T960AN320K
c.961C>Gc.C961GQ321E
c.961C>Tc.C961TQ321X
c.963_964GG>CA c.G963C/G964AQ321H/D322N
c.974G>Ac.G974AG325D
c.979C>Ac.C979AQ327K
c.982G>A or c.982G>Cc.G982A or c.G982CG328R
c.982G>Tc.G982TG328W
c.983G>Ac.G983AG328E
c.983G>Tc.G983TG328V
c.988C>Tc.C988TQ330X
c.997C>Tc.C997TQ333X
c.998A>Gc.A998GQ333R
c.1012G>Tc.G1012TE338X
c.1016T>Gc.T1016GV339G
c.1018T>C or c.1018T>Ac.T1018C or c.T1018AW340R
c.1019G>Cc.G1019CW340S
c.1019G>A or c.1020G>Ac.G1019A or c.G1020AW340X
c.1021G>Ac.G1021AE341K
c.1021G>Tc.G1021TE341X
c.1023A>C or c.1023A>Tc.A1023C or c.A1023TE341D
c.1024C>Gc.C1024GR342G
c.1024C>Tc.C1024TR342X
c.1025G>Ac.G1025AR342Q
c.1025G>Cc.G1025CR342P
c.1025G>Tc.G1025TR342L
c.1031T>Cc.T1031CL344P
c.1034C>G or c.1034C>Ac.C1034G or c.C1034AS345X
c.1042G>Cc.G1042CA348P
c.1045T>C or c.1045T>Ac.T1045C or c.T1045AW349R
c.1046G>A or c.1047G>Ac.G1046A or c.G1047AW349X
c.1048G>Cc.G1048CA350P
c.1054G>Cc.G1054CA352P
c.1055C>Ac.C1055AA352D
c.1058T>Gc.T1058GM353R
c.1065C>A or c.1065C>Gc.C1065A or c.C1065GN355K
c.1069C>Tc.C1069TQ357X
c.1072G>Ac.G1072AE358K
c.1081G>Tc.G1081TG361X
c.1081G>A or c.1081G>Cc.G1081A or c.G1081CG361R
c.1088G>Cc.G1088CR363P
c.1095T>A or c.1095T>Gc.T1095A or c.T1095GY365X
c.1115T>Ac.T1115AL372Q
c.1115T>Cc.T1115CL372P
c.1115T>Gc.T1115GL372R
c.1117G>Cc.G1117CG373R
c.1118G>Ac.G1118AG373D
c.1124_1129delc.1124_1129delG375_V376del
c.1129_1140dupc.1129_1140dupA377_P380dup
c.1130C>Ac.C1130AA377D
c.1132T>Cc.T1132CC378R
c.1133G>Ac.G1133AC378Y
c.1144T>Cc.T1144CC382R
c.1145G>Ac.G1145AC382Y
c.1146C>Gc.C1146GC382W
c.1147T>C or c.1149C>G or c.1149C>Ac.T1147C or c.C1149G or c.C1149AF383L
c.1151T>Ac.T1151AI384N
c.1153A>Cc.A1153CT385P
c.1156C>Tc.C1156TQ386X
c.1157A>Cc.A1157CQ386P
c.1163T>Cc.T1163CL388P
c.1165C>Gc.C1165GP389A
c.1166C>Gc.C1166GP389R
c.1166C>Tc.C1166TP389L
c.1181_1183dupc.1181_1183dupL394_G395insV
c.1187T>Ac.T1187AF396Y
c.1192G>Tc.G1192TE398X
c.1193A>Cc.A1193CE398A
c.1196G>A or c.1197G>Ac.G1196A or c.G1197AW399X
c.1196G>Cc.G1196CW399S
c.1202C>G or c.1202C>Ac.C1202G or c.C1202AS401X
c.1215T>Ac.T1215AS405R
c.1217A>Gc.A1217GH406R
c.1219A>Gc.A1219GI407V
c.1220T>Ac.T1220AI407K
c.1220T>Gc.T1220GI407R
c.1226_1231delc.1226_1231delp.409_410delinsR
c.1228A>Cc.A1228CT410P
c.1229C>Ac.C1229AT410K
c.1241T>Cc.T1241CL414S
c.1243C>Tc.C1243TL415F
c.1244T>Cc.T1244CL415P
c.1246C>Tc.C1246TQ416X
c.1247A>Cc.A1247CQ416P
c.1247_1248CT>AAc.C1247A/T1248AL417K
c.1250T>Gc.T1250GL417R
c.1250T>Cc.T1250CL417P
c.1288T>Cc.T1288CX430Q
g.941_5845delc.1-179_369+577delp.?(Exon1_2del)
g.?_?delc.?_?UNKNOWN (del Exon1_2?)
c.18delAc.18delAp.P6fs*114
c.26delAc.26delAp.H9Lfs*111
c.32delGc.32delGp.G11Afs*109
c.33delCc.33delCp.G11fs*109
c.34_42delc.34_42delp.C12_L14del
c.34_57delc.34_57delp.C12_L19del
c.35_47delc.35_47delp.C12Ffs*104
c.42_48delTGCGCTTc.42_48delTGCGCTTp.L14Sfs*12
c.58_72delc.58_72delp.A20_W24del
c.58_83delc.58_83delp.A20_G28delfs*2
c.85dupGc.85dupGp.A29Gfs*1
c.89delGc.89delGp.R30Kfs*89
c.123delCc.123delCp.T41fs*79
c.123_126dupCATGc.123_126dupCATGp.G43Hfs*13
c.124_125delc.124_125delp.M42Gfs*12
c.125_137delc.125_137delp.M42Tfs*74
c.147_148insCCCc.147_148insCCCp.49insP
c.147_148insCGCc.147_148insCGCp.R49ins
c.154delTc.154delTp.C52Afs*68
c.157_160delAACCc.157_160delAACCp.C52fs*67
c.162delTc.162delTp.L54fs*66
c.172delGc.172delGp.E58Kfs*61
c.181_182dupAc.181_182dupAp.D61Efs*5
c.184delTc.184delTp.S62Pfs*58
c.186delCc.186delCp.S62fs*58
g.2594_10904dupc.195-2500_999+197dupUNKNOWN
g.3422_6041delinsCGc.194+2049_369+773del2620insCGUNKNOWN
g.?_?delc.195-?_547+?delUNKNOWN (del Exon2_3?)
g.?_?dupc.?_?dupUNKNOWN (Exon2_4dup?)
g.2934_6378delc.194+1561_370-891delUNKNOWN (E66_Y123del; del Exon2?)
g.3396_6012delc.194+2023_370-1257delUNKNOWN (E66_Y123del; del Exon2?)
g.3260_6410delc.194+1887_370-859delUNKNOWN (E66_Y123del; del Exon2?)
g.2979_6442delc.194+1606_369+1174delUNKNOWN (E66_Y123del; del Exon2)
c.210insTc.210insTp.E71X
c.214delAc.214delAp.M72Wfs*47
c.256delTc.256delTp.Y88Mfs*42
g.5052_5079del28g.5052_5079del28UNKNOWN
g.5106_5919delins231c.207_369+651del814ins231UNKNOWN (del Exon2?)
c.259_276delc.259_276delp.87_92del
c.267_268dupCTc.267_268dupCTp.C90Sfs*31
c.270delCc.270delCp.C90X
c.281_286delinsTc.281_286delinsTp.C94Ffs*26
c.290delCc.290delCp.A97Vfs*22
c.297_298delc.297_298delp.Q99fs*22
c.297_300delAAGAc.297_300delAAGAp.Q99fs*19
c.305delCc.305delCp.S102X
c.317_327delc.317_327delp.S102fs*16
c.323_324insCAGAc.323_324insCAGAp.D109Rfs*14
c.336del18c.336del18p.113del6aa
c.354_368delc.354_368delp.Q119_Y123del
c.358del6c.358del6p.120del2aa/L120H
c.363delTc.363delTp.A121fs*8
g.5271_9366del4096insTc.369+3_639+954del3129insTUNKNOWN (del Exon3 and 4?)
g.6009_9741delc.369+741_640-390delUNKNOWN (del Exon3 and 4?)
g.6547_9783delc.369+1279_640-348delUNKNOWN (del Exon3 and 4?)
g.6736_11545delc.370-533_c.1290+277delUNKNOWN (del Exon3_7?)
g.7086_7487delc.370-183_547+41delUNKNOWN (del Exon3?)
g.>5.5kbdel to 3UTRc.?_?delUNKNOWN (delExon3_3’UTR?)
c.[374A>T; 383G>A]c.A374T/G383AH125L/G128E
c.402delTc.402delTp.Y134X
c.409delGc.409delGp.V137Lfs*27
c.413dupGc.413dupGp.G138fs*2
c.421delAc.421delAp.T141Pfs*23
c.426dupCc.426dupCp.A143Rfs*13
c.452delAc.452delAp.Y151Sfs*13
c.457_459delc.457_459delp.153delD
c.477delTc.477delTp.F159Lfs*5
c.486_498delc.486_498delp.W162Cfs*1
c.512delGc.512delGp.G171Vfs*19
c.516insGACc.516insGACp.152insD
c.520delTc.520delTp.C174Vfs*17
c.560delTc.560delTp.M187Sfs*3
c.568delGc.568delGp.A190Pfs*1
c.590delGc.590delGp.S197Tfs*42
c.[604T>C; 644A>G]c.T604C/A644Gp.C202R/N215S
c.606delTc.606delTp.C202Wfs*37
c.613_621delc.613_621delp.205_207del
c.614delCc.614delCp.P205Lfs*34
c.618_619delc.618_619delp.L206fs*24
c.621dupTc.621dupTp.M208Yfs*24
g.?_?delc.?_?delUNKNOWN (del Exon5_7?)
g.[10237_11932del; 11933_12083inv; 12084_12097del]g.[10237_11932del; 11933_12083inv; 12084_12097del] UNKNOWN
c.646dupTc.646dupTp.Y216Lfs*15
c.646delTc.646delTp.Y216Ifs*23
c.650_663dup14c.650_663dup14p.Q221fs*23
c.672_673ins37c.672_673ins37p.H225Tfs*18
c.674_732delc.674_732delp.H225Lfs*5
c.678delGc.678delGp.A230Lfs*9
c.700_702delc.700_702delp.D234del
c.715_717delc.715_717delp.delI239
c.716dupTc.716dupTp.I239fs*10
c.718_719delc.718_719delp.K240Efs*8
c.719dupAc.719dupAp.K240fs*9
c.722delGc.722delGp.S241Ifs*27
c.723dupTc.723dupTp.I242Yfs*8
c.736_739delinsCAAc.736_739delinsCAAp.T246Qfs*21
c.732delCc.732delCp.D244fs*24
c.741ins9c.741ins9p.247ins3
c.744delTc.744delTp.F248Lfs*20
c.744_745delc.744_745delp.F248Lfs*6
c.746_747delc.746_747delp.N249Tfs*5
c.756delAc.756delAp.I253Vfs*14
c.759delTc.759delTp.I253Mfs*15
c.760dupGc.760dupGp.V254Gfs*1
c.761_762delc.761_762delp.V254Gfs*9
c.774_775delc.774_775delp.G258fx*5
c.777delAc.777delAp.P259fs*9
c.782dupGc.782dupGp.G261fs*3
c.802-2_802-3delCAc.802-2_802-3delCAUNKNOWN
c.803_806delTAGTc.803_806delTAGTp.L268X
c.807delGc.807delGp.V269fs*12
c.833dupAc.833dupAp.N278Kfs*20
c.833delAc.833delAp.N278Ifs*3
c.833_845delc.833_845delp.W277fs*34
c.838_849delc.838_849delp.Q280_283del
c.841_844delGTAAc.841_844delGTAAp.Q280fs*34
c.842_844delc.842_844delp.V281AdelT282
c.848_851delAGATc.848_851delAGATQ283Rfs*33
c.858_863delinsTTGGc.858_863delinsTTGGp.W287fs*9
c.863delCc.863delCp.A288Vfs*29
c.881delTc.881delTp.L294Yfs*22
c.891dupTc.891dupTp.N298X
c.892_893insTc.892_893insTp.N298Ifs*1
c.893_894insGc.893_894insGp.N298Kfs*1
c.902dupGc.902dupGp.R301fs*13
c.909_918delc.909_918delp.I303Mfx*10
c.914delCc.914delCp.P305Lfs*11
c.931delCc.931delCp.L311Ffs*5
c.941_961delc.941_961delp.D315_Q321del
c.946delGc.946delGp.V316X
c.946_954dupc.946_954dupp.V316_A318dup
c.950_954dupTTGCCc.950_954dupTTGCCp.A318fs*31
c.972delGc.972delGp.G325Afs*21
c.974dupGc.974dupGp.G325fs*7
c.986delAc.986delAp.Y329Sfs*18
c.988delCc.988delCp.Q330Sfs*17
c.946_966delc.946_966delp.V316_D322del
c.994delAc.994delAp.R332Dfs*15
c.994dupAc.994dupAp.R332Kfs*5
c.996_999delc.996_999delp.R332fs*14
c.997dupCc.997dupCp.Q333Pfs*5
c.1011_1029delc.1011_1029delp.F337fs*4
c.1017_1020delins24c.1017_1020delins24p.V339fs*7
c.1017_1027delc.1017_1027delp.V339fs*5
c.1021delGc.1021delGp.E341Nfs*6
c.1025delGc.1025delGp.R342Hfs*5
c.1028delCc.1028delCp.343Lfs*3
c.1029_1030delTCc.1029_1030delTCp.P343fs*29
c.1030_1031insTc.1030_1031insTp.L344fs*30
c.1033_1034delc.1033_1034delp.S345Rfs*28
c.1037delGc.1037delGp.G346Afs*1
c.1040dupTc.1040dupTp.L347Ffs*27
c.1041dupAc.1041dupAp.L347fs*27
c.1042dupGc.1042dupGp.A348Gfs*26
c.1043_1044insGc.1043_1044insGp.A348fs*26
c.1049delCc.1049delCp.A350Vfs*1
c.1055_1056delCTc.1055_1056delCTp.A352Dfs*20
c.1055_1057dupc.1055_1057dupp.353InsT
c.1057_1058delc.1057_1058delp.M353Dfs*20
c.1072_1074delc.1072_1074delp.358delE
c.1074_1075delc.1074_1075delp.E358Dfs*15
c.1077delTc.1077delTp.I359Mfs*31
c.1081_1100delc.1081_1100delp.G360fs*7
c.1086_1098delc.1086_1098delp.P362fs*24
c.1088delGc.1088delGp.R363Pfs*27
c.1091_1092delc.1091_1092delp.S364Lfs*9
c.1093dupTc.1093dupTp.Y365Lfs*9
c.1095delTc.1095delTp.Y365X
c.1096_1100delc.1096_1100delp.Y365fs*7
c.1102delGc.1102delGp.A368Qfs*21
c.1102delGinsTTATACc.1102delGinsTTATACp.A368delinsFYfs*23
c.1114_1115insTCCCc.1114_1115insTCCCp.G373Pfs*1
c.1122_1125delc.1122_1125delp.K374fs*15
c.1123_1175delc.1123_1175delp.G375_R392del
c.1139delCc.1139delCp.380Lfs*10
c.1145_1149delc.1145_1149delp.C382Yfs*14
c.1146_1148delc.1146_1148delp.383delF
c.1151_1152delinsATc.1151_1152delinsATp.I384N
c.1156_1157delc.1156_1157delp.Q386Afs*10
c.1167dupTc.1167dupTp.P389fs*9
c.1168insTc.1168insTp.V390fs*9
c.1176_1179delc.1176_1179delp.R392Sfs*1
c.1177_1178delc.1177_1178delp.K393Afs*4
c.1181_1192delc.1181_1192delp.L394_E398delinsQ
c.1187dupTc.1187dupTp.F396fs*2
c.1187delTc.1187delTp.F396Sfs*7
c.1188delCc.1188delCp.F396fs*7
c.1193_1196delAATGc.1193_1196delAATGp.E398Gfs*3
c.1201dupTc.1201dupTp.S401Ffs*49
c.1202dupCc.1202dupCp.R402Kfs*48
c.1208delTc.1208delTp.L403X
c.1208ins21c.1208ins21UNKNOWN
c.1209_1211delc.1209_1211delp.404delR
c.1223delAc.1223delAp.N408Ifs*9
c.1235_1236delc.1235_1236delp.T412Sfs*37
c.1277_1278delc.1277_1278delp.K426Rfs*23
c.1281_1282insCTTAc.1281_1282insCTTAp.L429Ifs*21
c.1284_1287delc.1284_1287delp.L428Ffs*23
IVS1+2T>Cc.194+2T>CUNKNOWN
IVS1+39delATc.194+39delATUNKNOWN
IVS1-1G>Ac.195-1G>AUNKNOWN
IVS1-1G>Tc.195-1G>TUNKNOWN
IVS1-2A>Gc.195-2A>GUNKNOWN
IVS1-2A>G; IVS1-49T>Cc.[195-2A>G; 195-49T>C]UNKNOWN
IVS2+1G>Ac.369+1G>AUNKNOWN
IVS2+1G>Tc.369+1G>TUNKNOWN
IVS2+2T>Gc.369+2T>GUNKNOWN
IVS2-2A>Gc.370-2A>GUNKNOWN
IVS3+1G>Ac.547+1G>AUNKNOWN
IVS3+1G>Cc.547+1G>CUNKNOWN
IVS3-162A>Tc.548-162A>TUNKNOWN
IVS3-2A>Gc.548-2A>GUNKNOWN
IVS3-1G>Ac.548-1G>AUNKNOWN
IVS3-1G>Cc.548-1G>CUNKNOWN
IVS3-1G>Tc.548-1G>TUNKNOWN
IVS4+1G>Ac.639+1G>AUNKNOWN
IVS4+1G>Cc.639+1G>CUNKNOWN
IVS4+4A>Tc.639+4A>TUNKNOWN
IVS4+861C>Tc.639+861C>TUNKNOWN
IVS4+919G>Ac.639+919G>AUNKNOWN
IVS4-859C>Tc.640-859C>TUNKNOWN
IVS4-11T>Ac.640-11T>AUNKNOWN
IVS4-3C>Gc.640-3C>GUNKNOWN
IVS4-2A>Tc.640-2A>TUNKNOWN
IVS4-1G>Ac.640-1G>AUNKNOWN
IVS4-1G>Tc.640-1G>TUNKNOWN
IVS5+2T>Cc.801+2T>CUNKNOWN
IVS5+3A>Gc.801+3A>GUNKNOWN
IVS5+3A>Tc.801+3A>TUNKNOWN
IVS5+4A>Gc.801+4A>GUNKNOWN
IVS5-2A>Gc.802-2A>GUNKNOWN
IVS6+1G>Tc.999+1G>TUNKNOWN
IVS6+2T>Cc.999+2T>CUNKNOWN
IVS6-2A>Gc.1000-2A>GUNKNOWN
IVS6-2A>Tc.1000-2A>TUNKNOWN
IVS6-1G>Ac.1000-1G>AUNKNOWN
IVS6-1G>Cc.1000-1G>CUNKNOWN
IVS6-10G>A; IVS6-22C>Tc.[1000-10G>A; 1000-22C>T]UNKNOWN