Data Access

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All of the mutations in ALSoD. (661)

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Mutant StructureMutation nameMutation codeGeneTypeSeq. OriginalSeq. MutatedAA. OriginalAA. MutatedCodon NumberExon/IntronExon/Intron NumberHGVS_NucleotideHGVS_proteinLocation(Chr)dbSNP
SelectAla46delA261delAALS2DeletionGCAAAla 46exon3    
SelectAla46delAA47fsX4ALS2DeletionGCA at position +3 Ala 47exon3    
SelectIle94ValI94VALS2SubstitutionATTGTTIleVal94exon4NM_020919.3:c.280A>GNP_065970.2:p.I94V2:202626437rs3219154
SelectSer100IleS100IALS2SubstitutionGTSerIle100exon4NM_020919.3:c.299 G >TNP_065970.2:p.S100I  
SelectHis102ArgH102RALS2SubstitutionCATCGTHisArg102exon4NM_020919.3:c.305A>GNP_065970.2:p.H102R2:202626412 
SelectThr185delAT185fsX5ALS2DeletionACT at position +1 Thr 185exon4    
SelectVal368MetV368MALS2SubstitutionGTGATGValMet368exon4NM_020919.3:c.1102G>ANP_065970.2:p.V368M2:202625615rs3219156
Select2660delATN846fsX13ALS2DeletionGCAATAla 377exon5    
SelectAla377delAT1130delATALS2DeletionGCAATAla 377exon5    
SelectGln435LeuQ435LALS2SubstitutionCAGCTGGlnLeu435exon5    
SelectGlu476delAG1548delAGALS2DeletionGAG at position +2 Glu 476exon5    
SelectGln490delGTTTCCCCCANT1471ALS2DeletionCAAGTTTCCCCCAGln 490exon5    
SelectGly540GluG540EALS2SubstitutionGGGGAGGlyGlu540exon6NM_020919.3:c.1619G>ANP_065970.2:p.G540E2:202619247 
SelectLeu623delCTL623fsX24ALS2DeletionCTG at position +1 Leu 623exon9    
SelectGly668STOPG668XALS2SubstitutionGTGlySTOP668exon NM_020919.3:c.G2002TNP_065970.2:p.G668X  
SelectGln715STOPQ715XALS2SubstitutionCAGTAGGlnSTOP715exon10NM_020919.3:c.2143C>TNP_065970.2:p.Q715X2:202609008rs121908139
SelectVal822MetV822MALS2SubstitutionGTGATGValMet822exon13NM_020919.3:c.2464G>ANP_065970.2:p.V822M2:202598115 
Selectc.2580-2 A>Gc.2580-2 A>GALS2SubstitutionAG  890exon14NM_020919.3:c.2580-2 A>G   
SelectArg998STOPR998XALS2SubstitutionCGATGAArgSTOP998exon18NM_020919.3:c.2992C>TNP_065970.2:p.R998X2:202591577rs121908137
SelectPro1016ThrP1016TALS2SubstitutionCCTACTProThr1016exon18    
SelectGly1172GlufsX29G1172EfsX29ALS2DeletionG GlyGlu1172exon     
SelectLys1174STOPK1174XALS2SubstitutionAAGTAGLysSTOP1174exon22NM_020919.3:c.3520A>Tp.Lys1174*  
SelectVal1189TrpfsX19V1189WfsX19ALS2DeletionG ValTrp1189exon     
SelectTyr1248delAM1207XALS2DeletionTATATyr 1248exon24    
SelectLeu1339LeuL1339LALS2SubstitutionCTGTTGLeuLeu1339exon26NM_020919.3:c.4015C>TNP_065970.2:p.L1339L2:202575821rs3219168
SelectArg1406LysR1406KALS2SubstitutionAGGAAGArgLys1406exon27NM_020919.3:c.4217G>ANP_065970.2:p.R1406K2:202574667 
SelectVal1525fsV1525fsALS2Frameshift    1525exon NM_020919.3:c.4573dupGNP_065970.2:p.V1525fs  
SelectIle1614delTV1574fsX44ALS2DeletionATTTIle 1614exon33    
SelectMet-24IleM-24IANGSubstitutionATGATAMetIle-24exon2NM_001145.4:c.3G>ANP_001136.1:p.M1I14:21161726rs201068740
SelectPhe-13SerF-13SANGSubstitutionTTCTCCPheSer-13exon2NM_001145.4:c.35T>CNP_001136.1:p.F12S14:21161758 
SelectPhe-13LeuF-13LANGSubstitutionCTPheLeu-13exon2NM_001145.4:c.36C>TNP_001136.1:p.F(-13)L14:21161759 
SelectGly-10AspG-10DANGSubstitution  GlyAsp-10exon2 NP_001136.1:p.Q(-10)D  
SelectPro-4SerP-4SANGSubstitutionCCGTCGProSer-4exon2NM_001145.4:c.61C>TNP_001136.1:p.P21S14:21161784rs149672657
SelectGln12LeuQ12LANGSubstitutionCAGCTGGlnLeu12exon2NM_001145.4:c.107A>TNP_001136.1:p.Q36L14:21161830rs121909535
SelectTyr14HisY14HANGSubstitutionTATCATTyrHis14exon2NM_001145.4:c.112T>CNP_001136.1:p.Y38H14:21161835 
SelectLys17IleK17IANGSubstitutionAAAATALysIle17exon2NM_001145.4:c.122A>TNP_001136.1:p.K41I14:21161845rs121909536
SelectLys17GluK17EANGSubstitutioncAAAGAALysGlu17exon2NM_001145.4:c.250A>G NP_001136.1:p.Lys84Glu14:21161973rs17560
SelectGly20GlyG20GANGPolymorphismGGCGGGGlyGly20exon2NM_001145.4:c.132C>GNP_001136.1:p.G44G14:21161855 
SelectAsp22GlyD22GANGSubstitutionGATGGTAspGly22exon2NM_001145.4:c.137A>GNP_001136.1:p.D46G14:21161860 
SelectSer28AsnS28NANGSubstitutionAGCAACSerAsn28exon2NM_001145.4:c.155G>ANP_001136.1:p.S52N14:21161878rs121909542
SelectArg31LysR31KANGSubstitutionAGGAAGArgLys31exon2NM_001145.4:c.164G>ANP_001136.1:p.R55K14:21161887rs121909538
SelectCys39TrpC39WANGSubstitutionTGCaTGGCysTrp39exon2NM_001145.4:c.189C>GNP_001136.1:p.C63W14:21161912rs121909539
SelectLys40IleK40IANGSubstitutionAAAATALysIle40exon2NM_001145.4:c.191A>TNP_001136.1:p.K64I14:21161914rs121909540
SelectIle46ValI46VANGSubstitutiontATTGTTIleVal46exon2NM_001145.4:c.208A>G NP_001136.1:p.I70V14:21161931rs121909541
SelectAsn49SerN49SANGSubstitutionAGAsnSer49exon2NM_001145.4:c.218A>GNP_001136.1:p.N73S14:21161941 
SelectLys54GluK54EANGSubstitutionAAGGAGLysGlu54exon2NM_001145.4:c.232A>GNP_001136.1:p.K78E14:21161955rs141055235
SelectLeu59ProL59PANGSubstitutionTCLeuPro59exon2NM_001145.4:c.176T>CNP_001136.1:p.L59P14:21161899rs11541242
SelectThr80SerT80SANGSubstitutionCGThrSer80exon2NM_001145.4:c.311C>G NP_001136.1:p.T104S14:21162034 
SelectLys84GluK84EANGSubstitutionAGLysGlu84exon2NM_001145.4:c.250A>GNP_001136.1:p.K84E14:21161973rs17560
SelectHis84ArgH84RANGSubstitutionCATCGTHisArg84exon2NM_001145.4:c.323A>GNP_001136.1:p.H84R14:21162046 
SelectPhe100IleF100IANGSubstitution  PheIle100exon2NM_001145.4:c.298T>ANP_001136.1:p.Phe100Ile 14:21162021
SelectVal103IleV103IANGSubstitutionGTTATTValIle103exon2NM_001145.4:c.379G>ANP_001136.1:p.V103I14:21162102 
SelectPro112LeuP112LANGSubstitutionCCTCTTProLeu112exon2NM_001145.4:c.407C>TNP_001136.1:p.P136L14:21162130rs121909543
SelectVal113IleV113IANGSubstitutionGTCATCValIle113exon2NM_001145.4:c.409G>ANP_001136.1:p.V137I14:21162132rs121909544
SelectHis114ArgH114RANGSubstitutionCACCGCHisArg114exon2NM_001145.4:c.413A>GNP_001136.1:p.H138R14:21162136 
SelectArg121HisR121HANGSubstitutionCGTCATArgHis121exon2NM_001145.4:c.434G>ANP_001136.1:p.R145H14:21162157 
SelectArg145CysR145CANGSubstitutionCTArgCys145exon2NM_001145.4:c.433C>TNP_001136.1:p.R145C14:21162156 
Selectintron 6, + 1 delG (GT> TT)intron 6, + 1 delG (GT> TT)ARHGEF28splicing     intron6    
SelectK280M> fs40XK280M> fs40XARHGEF28frameshift    280exon     
SelectCAG repeat size 33CAG repeat size 33ATXN2RepeatExp00  0exon     
SelectCAG repeat size 34CAG repeat size 34ATXN2RepeatExp00  0exon     
SelectCAG repeat size 36CAG repeat size 36ATXN2RepeatExp00  0exon     
SelectCAG repeat size 39CAG repeat size 39ATXN2RepeatExp00  0exon     
SelectCAG repeat size 37CAG repeat size 37ATXN2RepeatExp00  0exon     
SelectCAG repeat size 35CAG repeat size 35ATXN2RepeatExp00  0exon     
SelectCAG repeat size 31CAG repeat size 31ATXN2RepeatExp00  0exon     
SelectCAG repeat size 27CAG repeat size 27ATXN2RepeatExp00  0exon     
SelectCAG repeat size 32CAG repeat size 32ATXN2RepeatExp00  0exon     
SelectGlu32ValE32VBCL11BSubstitutionATGluVal32exon NM_022898.1:c.95A>TNP_075049.1:p.E32V14:99724140 
SelectPro229SerP229SBCL11BSubstitutionCTProSer229exon     
SelectAsn73SerN73SBCL6SubstitutionAGAsnSer73exon NM_001706.4:c.218A>GNP_001697.2:p.N73S3:187449662 
SelectHREMHREMC9orf72Repeat GGGGCC  0intron1    
SelectArg65CysR65CCDH13SubstitutionCTArgCys65exon NM_001257.4:c.193C>TNP_001248.1:p.R65C16:83065650 
SelectAla103ValA103VCDH13SubstitutionCTAlaVal103exon NM_001257.4:c.308C>TNP_001248.1:p.A103V16:83065765 
SelectGly113ArgG113RCDH13SubstitutionGCGlyArg113exon NM_001257.4:c.337G>CNP_001248.1:p.G113R16:83065794rs183971768
SelectArg246TrpR246WCDH13SubstitutionCTArgTrp246exon NM_001257.4:c.736C>TNP_001248.1:p.R246W16:83378566 
SelectGlu367GlnE367QCDH13SubstitutionGCGluGln367exon NM_001257.4:c.1099G>CNP_001248.1:p.E367Q16:83636197rs200000145
SelectGlu92LysE92KCDH22SubstitutionGAGluLys92exon NM_021248.2:c.274G>ANP_067071.1:p.E92K  
SelectThr134MetT134MCDH22SubstitutionCTThrMet134exon NM_021248.2:c.401C>TNP_067071.1:p.T134M  
SelectArg533HisR533HCDH22SubstitutionGAArgHis533exon NM_021248.2:c.1598G>ANP_067071.1:p.R533H  
SelectArg15LeuR15LCHCHD10SubstitutionCAArgLeu15exon2    
SelectPro34SerP34SCHCHD10SubstitutionCTProSer34exon     
SelectSer59LeuS59LCHCHD10SubstitutionCTSerLeu59exon     
SelectGly66ValG66VCHCHD10SubstitutionCAGlyVal66exon     
SelectPro80LeuP80LCHCHD10Substitution  ProLeu80exon     
SelectPro413LeuP413LCHGBSubstitutionCTProLeu413exon     
SelectArg22GlnR22QCHMP2BSubstitutionGAArgGln22exon2    
SelectIle29ValI29VCHMP2BSubstitutionAGIleVal29exon     
SelectSer103CysS103CCHMP2BSubstitutionCGSerCys103exon   3:87295045 
SelectGlu201GlnE201QCHMP2BSubstitutionGAGluGln201exon   3:87302931 
SelectGln206HisQ206HCHMP2BSubstitutionACGlnHis206exon     
SelectThr104AsnT104NCHMP2BSubstitutionCAThrAsn311exon     
SelectPhe314ValF314VCNTN6SubstitutionTGPheVal314exon NM_014461.2:c.940T>GNP_055276.1:p.F314V3:1363512rs144474590
SelectGlu954ValE954VCNTN6SubstitutionATGluVal954exon NM_014461.2:c.2861A>TNP_055276.1:p.E954V3:1444045 
SelectAsn406SerN406SCRIM1SubstitutionAGAsnSer406exon NM_016441.2:c.1217A>GNP_057525.1:p.N406S2:36706682rs139895660
SelectArg169CysR169CCRYMSubstitutionCTArgCys169exon NM_001888.3:c.505C>TNP_001879.1:p.R169C16:21279043rs148349291
SelectVal249IleV249ICX3CR1Substitution00ValIle249exon    rs3732379
SelectThr280MetT280MCX3CR1Substitution00ThrMet280exon    rs3732378
SelectArg38HisR38HDAOSubstitutionGAArgHis38exon2NM_001917.4:c.113G>ANP_001908.3:p.R38H12:109278895 
SelectArg199TrpR199WDAOSubstitutionCTArgTrp199exon NM_001917.4:c.595C>TNP_001908.3:p.R199W12:109288126rs3825251
SelectGly59SerG59SDCTN1SubstitutionCTGlySer59exon2    
SelectGly59ArgG59RDCTN1Substitution  GlyArg59exon     
SelectMet571ThrM571TDCTN1SubstitutionTCMetThr571exon15NM_004082.4:c.1712T>CNP_004073.2:p.M571T2:74595997rs121909343
SelectArg785TrpR785WDCTN1SubstitutionCTArgTrp785exon20NM_004082.4:c.2353C>TNP_004073.2:p.R785W2:74594023rs121909344
SelectR997WR997WDCTN1SubstitutionCTArgTrp997exon18    
SelectArg1101LysR1101KDCTN1SubstitutionGAArgLys1101exon27NM_004082.4:c.3302G>ANP_004073.2:p.R1101K2:74590464rs121909345
SelectThr1249IleT1249IDCTN1SubstitutionCTThrIle1249exon13NM_004082.4:c.3746C>TNP_004073.2:p.T1249I2:74588717rs72466496
SelectIle234ThrI234TDIAPH3SubstitutionTCIleThr234exon NM_001042517.1:c.701T>CNP_001035982.1:p.I234T13:60554984 
SelectPro578LeuP578LDIAPH3SubstitutionCTProLeu578exon NM_001042517.1:c.1733C>TNP_001035982.1:p.P578L13:60545212rs76366906
SelectPro588LeuP588LDIAPH3SubstitutionCTProLeu588exon NM_001042517.1:c.1763C>TNP_001035982.1:p.P588L13:60545182rs111260336
SelectPro596LeuP596LDIAPH3SubstitutionCTProLeu596exon NM_001042517.1:c.1787C>TNP_001035982.1:p.P596L13:60545158rs150023947
SelectArg1042HisR1042HDIAPH3SubstitutionGAArgHis1042exon NM_001042517.1:c.3125G>ANP_001035982.1:p.R1042H13:60384960rs200189161
SelectArg1191XR1191XDIAPH3SubstitutionCTArgX1191exon NM_001042517.1:c.3571C>TNP_001035982.1:p.R1191X13:60240729 
SelectArg209LeuR209LDOC2BSubstitutionGTArgLeu209exon NM_003585.3:c.626G>TNP_003576.2:p.R209L17:11884 
SelectArg927GlnR927QERBB4SubstitutionGAArgGln927exon NM_005235.2:c.2780G>ANP_005226.1:p.Arg927Gln2:212288966ss831884245
SelectArg1275TrpR1275WERBB4SubstitutionCTArgTrp1275exon NM_005235.2:c.3823C>TNP_005226.1:p.Arg1275Trp2:212248444ss831884246
SelectCAG repeat size 25CAG repeat size 25ErrorRepeatExp00  0exon     
SelectGln235GlnQ235QEWSR1SubtitutionGAGlnGln235exon     
SelectGly188AspG188DFEZF2SubstitutionGAGlyAsp188exon NM_018008.3:c.563G>ANP_060478.3:p.G188D3:62357981rs199850439
SelectArg23del23-55R23del(23-55)FIG4SubstitutionGTArgSTOP23exon2    
SelectAsp48GlyD48GFIG4SubstitutionAGAspGly48exon2NM_014845.5:c.143A>GNP_055660.1:p.D48G6:110036357 
SelectAsp53TyrD53YFIG4SubstitutionGTAspTyr53exon2NM_014845.5:c.157G>TNP_055660.1:p.D53Y6:110036371rs121908290
SelectArg183STOPR183XFIG4SubstitutionCTArg 183exon6    
SelectArg388GlyR388GFIG4SubstitutionAGArgGly388exon11NM_014845.5:c.1162A>GNP_055660.1:p.R388G6:110081477 
SelectGln403STOPQ403XFIG4SubstitutionCTGln 403exon11    
SelectIle411ValI411VFIG4SubstitutionAGIleVal411exon11NM_014845.5:c.1231A>GNP_055660.1:p.I411V6:110081546 
SelectSer424_K462S424del insRFIG4SubstitutionGTSerSTOP424exon12    
SelectTyr647CysY647CFIG4SubstitutionTGTyrCys647exon17    
SelectIle902ThrI902TFIG4SubstitutionTCIleThr902exon23NM_014845.5:c.2705T>CNP_055660.1:p.I902T6:110146449 
SelectAla2AlaA2AFUSSubstitutionCTAlaAla2exon1NM_004960.3:c.6C>TNP_004951.1:p.Ala2Ala=16:31191541 
SelectPro18SerP18SFUSSubstitutionCCCTCCProSer18exon3NM_004960.3:c.52C>TNP_004951.1:p.P18S16:31193847 
SelectGly49GlyG49GFUSSubstitutionCAGlyGly49exon3NM_004960.3:c.147C>ANP_004951.1:p.G49G16:31193942rs741810
SelectGly51GlyG51GFUSSubstitutionCTGlyGly51exon3NM_004960.3:c.153 C>TNP_004951.1:p.G51G16:31193948rs61733962
SelectSer57delTCTS57delTCTFUSDeletionTCT Ser 57exon3NM_004960.3:c.169_171delTCTNP_004951.1:p.S57del16:31101465 
SelectAsn63SerN63SFUSSubstitutionAACAGCAsnSer63exon3NM_004960.3:c.188A>GNP_004951.1:p.N63S16:31193983rs140883211
SelectGly74GlyG74GFUSSubstitutionAGGlyGly74exon4NM_004960.3:c.222A>GNP_004951.1:p.Gly74Gly=16:31195210 
SelectTyr91TyrY91YFUSSubstitutionCTTyrTyr91exon4NM_004960.3:c.273C>TNP_004951.1:p.Y91Y16:31195261rs73530286
SelectSer96delCCTACinsAT287291delCCTACinsATFUSDeletion    96exon4NM_004960.3:c.287291delCCTACinsATNP_004951.1:p.Ser96del16:31488469 
SelectTyr97TyrY97YFUSSubstitutionCTTyrTyr97exon4NM_004960.3:c.291C>TNP_004951.1:p.Y97Y16:31195279rs1052352
SelectSer115AsnS115NFUSSubstitutionAGCAACSerAsn115exon5    
SelectSer142AsnS142NFUSSubstitutionAGCAACSerAsn142exon5    
Selectc.491_495 +1delGAGGTgcG144_Y149delFUSDeletion delGGACAGGly 144exon5NM_004960.3:c.491_495 + 1delGAGGTgcNP_004951.1:p.G174_G175del  
SelectGly156GluG156EFUSSubstitutionGGAGAAGlyGlu156exon5NM_004960.3:c.467G>ANP_004951.1:p.G156E16:31195661 
SelectAsn159TyrN159YFUSSubstitutionAACTACAsnTyr159exon5NM_004960.3:c.475 A>TNP_004951.1:p.N159Y16:31195669 
SelectGly168GlyG168GFUSSubstitutionATGlyGly168exon5NM_004960.3:c.504A>TNP_004951.1:p.Gly168Gly=16:31195698 
SelectGly170GlyG170GFUSSubstitutionATGlyGly170exon5NM_004960.3:c.510A>TNP_004951.1:p.Gly170Gly=16:31195704 
Selectc.521_523+3delGAGGTGG173_G174delFUSDeletionGAGGTG GAGGTG 173exon5NM_004960.3:c.521_523+3delGAGGTGNP_004951.1:p.G173_G174del16:31195715 
Selectc.430_447delGGACAGCAGCAAAGCTATG174_G175delFUSDeletion delGAGGly 174exon5NM_004960.3:c.430_447delGGACAGCAGCAAAGCTATNP_004951.1:p.G144_Y149del16:31195624 - 16:31195641 
SelectGly175G175FUSInsertionGGTGAGGTGGly 175exon6    
SelectGly187SerG187SFUSSubstitutionGGTAGTGlySer187exon6NM_004960.3:c.559G>ANP_004951.1:p.G187S16:31196295rs370954028
SelectGly191SerG191SFUSSubstitutionGGTAGTGlySer191exon6NM_004960.3:c.571G>ANP_004951.1:p.G191S16:31196307rs148758737
SelectGln210HisQ210HFUSSubstitutionGCGlnHis210exon6NM_004960.3:c.630G>CNP_004951.1:p.Q210H  
SelectArg216CysR216CFUSSubstitutionCGCTGCArgCys216exon6NM_004960.3:c.646C>TNP_004951.1:p.R216C16:31196382rs267606832
Selectc.666_667insGGCG222_G223insGFUSInsertion insGGCGly 222exon6NM_004960.3:c.666_667insGGCNP_004951.1:p.G222_G223insG rs72550890
Selectc.667_669delGGCG223delFUSDeletion delGGCGly 223exon6NM_004960.3:c.667_669delGGCNP_004951.1:p.G223del rs72550890
SelectG223-G226delc.667-678delGGCGGCGGCGGCFUSDeletion    223exon6NM_004960.3:c.667-678delGGCGGCGGCGGCNP_004951.1:p.G223-G226del  
SelectGly225ValG225VFUSSubstitutionGGCGTCGlyVal225exon6NM_004960.3:c.674G>TNP_004951.1:p.G225V16:31196410 
SelectGly226SerG226SFUSSubstitutionGAGlySer226exon6NM_004960.3:c.676G>ANP_004951.1:p.G226S16:31196412 
Selectc.676_684del228_230delGGGFUSDeletionGGG GGG 228exon6NM_004960.3:c.676_684delNP_004951.1:p.228_230delGGG  
Selectc.684_685insGGCGly228_Gly229insGlyFUSInsertion GGC GGC228exon6NM_004960.3:c.684_685insGGCNP_004951.1:p.Gly228_Gly229insGly  
SelectGly228GlyG228GFUSSubstitutionCTGlyGly228exon6NM_004960.3:c.684C>TNP_004951.1:p.G228G16:31196420rs151073460 
Selectc.681_684delGGC230delGFUSDeletionG G 230exon6NM_004960.3:c.681_684delGGCNP_004951.1:p.230delG  
SelectGly230CysG230CFUSSubstitutionGGTTGTGlyCys230exon6NM_004960.3:c.688G>TNP_004951.1:p.G230C16:31196424 
SelectArg234CysR234CFUSSubstitutionCGCTGCArgCys234exon6NM_004960.3:c.700C>TNP_004951.1:p.R234C16:31196436 
SelectArg234LeuR234LFUSSubstitutionCGCCTCArgLeu234exon6NM_004960.3:c.701G>TNP_004951.1:p.R234L16:31196437 
SelectArg244CysR244CFUSSubstitutionCGTTGTArgCys244exon6NM_004960.3:c.730C>TNP_004951.1:p.R244C16:31196466 
SelectMet254ValM254VFUSSubstitutionATGGTGMetVal254exon6NM_004960.3:c.760A>GNP_004951.1:p.M254V16:31196496 
SelectArg383CysR383CFUSSubstitutionCTArgCys383exon11NM_004960.3:c.1147C>TNP_004951.1:p.R383C16:31201441 
SelectArg386ArgR386RFUSSubstitutionCAArgArg386exon11NM_004960.3:c.1156C>ANP_004951.1:p.R386R16:31201450rs61733965
SelectPro391ProP391PFUSSubstitutionCAProPro391exon12NM_004960.3:c.1173C>ANP_004951.1:p.P391P16:31201600 
SelectGly399ValG399VFUSSubstitutionGGTGTTGlyVal399exon11NM_004960.3:c.1196G>TNP_004951.1:p.G399V16:31201623 
SelectSer439SerS439SFUSSilentTCTTCCSerSer439exon12NM_004960.2:c.1080C>TNP_004951.1:p.S439S16:31201374rs190724342 
SelectSer462PheS462FFUSSubstitutionCTSerPhe462exon13NM_004960.3:c.1385G>CNP_004951.1:p.S462F  
SelectMet464IleM464IFUSSubstitutionATGATTMetIle464exon12NM_004960.3:c.1392G>TNP_004951.1:p.M464I16:31202162 
SelectY485AfsX514c.1449-1488delCTACCGGGGCCGCGGCGGGGACCGTGGAGGCTTCCGAGGGFUSframeshift    485exon14NM_004960.3:c.1449-1488delCTACCGGGGCCGCGGCGGGGACCGTGGAGGCTTCCGAGGGNP_004951.1:p.Y485AfsX514  
SelectR495EfsX527c.1483delCFUSframeshift    485exon14NM_004960.3:c.1483delCNP_004951.1:p.Arg495Glufs16:31202373 
SelectG497AfsX527c.1485delAFUSframeshift    485exon14NM_004960.3:c.1485delANP_004951.1:p.Arg495Arg=fs16:31202375 
SelectK510WfsX517c.1527insTGGCFUSframeshift    485exon14NM_004960.3:c.1527insTGGCNP_004951.1:p.K510WfsX517  
SelectArg487CysR487CFUSSubstitutionCGCTGCArgCys487exon13    
SelectGly488GlyG488GFUSSubstitutionCTGlyGly488exon14NM_004960.3:c.1464C>TNP_004951.1:p.G488G16:31202354rs150529460
SelectR495QfsX527c.1484delGFUSframeshift    495exon14NM_004960.3:c.1484delGNP_004951.1:p.Arg495Glnfs16:31202374 
SelectArg495STOPR495XFUSSubstitutionCGATGAArgSTOP495exon13NM_004960.3:c.1483C>TNP_004951.1:p.R495X16:31202373 
SelectGly496Glyfs*31c.1486delGFUSDeletionG Gly 496exon     
Selectc.1507_1508delAGG503WfsX12FUSDeletionAG AG 503exon14NM_004960.3:c.1507_1508delAGNP_004951.1:p.G503WfsX1216:31202397 
SelectGly507AspG507DFUSSubstitutionGGCGACGlyAsp507exon13NM_004960.3:c.1520G>ANP_004951.1:p.G507D16:31202410rs267606831
SelectLys510GluK510EFUSSubstitutionAAGGAGLysGlu510exon13 NP_004951.1:p.K510E  
SelectLys510ArgK510RFUSSubstitutionAAGAGGLysArg510exon13NM_004960.3:c.1529A>GNP_004951.1:p.K510R16:31202419 
SelectArg514SerR514SFUSSubstitutionAGGAGTArgSer514exon14NM_004960.3:c.1542G>TNP_004951.1:p.R514S16:31202720 
SelectArg514GlyR514GFUSSubstitutionAGGGGGArgGly514exon14NM_004960.3:c.1540A>GNP_004951.1:p.R514G16:31202430 
SelectArg514ArgR514RFUSSubstitutionAGGCGGArgArg514exon14NM_004960.3:c.1540A>CNP_004951.1:p.R514R16:31202430 
SelectGly515CysG515CFUSSubstitutionGGTTGTGlyCys515exon14NM_004960.3:c.1543G>TNP_004951.1:p.G515C16:31202721 
SelectHis517GlnH517QFUSSubstitutionCACCAGHisGln517exon14NM_004960.3:c.1551C>GNP_004951.1:p.H517Q16:31202729rs121909667
SelectHis517AspH517DFUSSubstitutionCACGACHisAsp517exon14NM_004960.3:c.1549C>GNP_004951.1:p.H517D16:31202727 
SelectArg518LysR518KFUSSubstitutionAGAAAAArgLys518exon14NM_004960.3:c.1553G>ANP_004951.1:p.R518K16:31202731rs121909669
SelectGln519STOPQ519XFUSSubstitutionCTGlnSTOP519exon15NM_004960.3:c.1555C>TNP_004951.1:p.Q519X16:31202733 
Selectc.1506dupAR502fsX15FUSSubstitution  Arg 520exon14NM_004960.3:c.1506dupANP_004951.1:p.R502fsX15  
SelectArg521GlyR521GFUSSubstitutionCGCGGCArgGly521exon14NM_004960.3:c.1561C>GNP_004951.1:p.R521G16:31202739rs121909668
SelectArg521HisR521HFUSSubstitutionCGCCACArgHis521exon14NM_004960.3:c.1562G>ANP_004951.1:p.R521H16:31202740rs121909671
SelectArg521CysR521CFUSSubstitutionCGCTGCArgCys521exon14NM_004960.3:c.1561C>TNP_004951.1:p.R521C16:31202739rs121909668
SelectArg521SerR521SFUSSubstitutionCGCAGCArgSer521exon14NM_004960.3:c.1561C>ANP_004951.1:p.R521S16:31202739 
SelectArg521LeuR521LFUSSubstitutionCGCCTCArgLeu521exon14NM_004960.3:c.1562G>TNP_004951.1:p.R521L16:31202740 
SelectArg522GlyR522GFUSSubstitutionAGGGGGArgGly522exon14NM_004960.3:c.1564A>GNP_004951.1:p.R522G16:31202742 
SelectArg522ArgR522RFUSSubstitutionGAArgArg522exon15NM_004960.3:c.1566G>ANP_004951.1:p.R522R16:31202744rs138901914 
SelectArg524TrpR524WFUSSubstitutionATArgTrp524exon14NM_004960.3:c.1570A>TNP_004951.1:p.R524W16:31202748rs267606833
SelectArg524ThrR524TFUSSubstitutionAGGACGArgThr524exon14NM_004960.3:c.1571G>CNP_004951.1:p.R524T16:31202749 
SelectArg524SerR524SFUSSubstitutionAGGAGCArgSer524exon14NM_004960.3:c.1572G>CNP_004951.1:p.R524S16:31202750 
SelectArg524MetR524MFUSSubstitutionGTArgMet524exon14    
SelectPro525LeuP525LFUSSubstitutionCCGCTGProLeu525exon14NM_004960.3:c.1574C>TNP_004951.1:p.P525L16:31202752 
Selectc.1581delAX527YextXFUSDeletionA A 527exon15NM_004960.3:c.1581delANP_004951.1:p.X527YextX16:31202759 
Selectc.1965-2A>Cc.1965-2A>CGLE1Splice-siteAC   intron     
SelectSer70STOPS70XGLE1DeletionCASerSTOP70exon     
SelectArg697CysR697CGLE1SubstitutionCTArgCys697exon     
SelectHis507TyrH507YGRB14SubstitutionCTHisTyr507exon NM_004490.2:c.1519C>TNP_004481.2:p.H507Y2:165349650rs144301087
SelectAsp314AsnD314NHNRNPA1Substitution  AspAsn314exon NM_031157.2:c.940G>ANP_112420.1:p.D314N12:54677628rs397518453
SelectAsn319SerN319SHNRNPA1Substitution  AsnSer319exon NM_031157.2:c.956A>GNP_112420.1:p.Asn319Ser12:54283860 
SelectAla436ValA436VLMNB1SubstitutionCTAlaVal436exon NM_005573.3:c.436C>T 5:126156748 
SelectLeu199ProL199PLUMSubstitutionTCLeuPro199exon NM_002345.3:c.596T>CNP_002336.1:p.L199P12:91502161rs147975710
SelectSer85CysS85CMATR3SubstitutionCGSerCys85exon NM_199189.2:c.85C>G 5:138643358 
SelectPhe115Cys F115CMATR3SubstitutionTGPheCys115exon NM_199189.2:c.115T>G 5:138643448 
SelectPro154SerP154SMATR3SubstitutionCTProSer154exon NM_199189.2:c.154C>T 5:138643564 
SelectThr622AlaT622AMATR3SubstitutionAGThrAla622exon NM_199189.2:c.622A>G 5:138658372 
Select2368-2370del2368-2370delNEFHDeletion     exon     
SelectAla40ValA152VNEFHSubstitutionCTAlaVal40exon NM_021076.3:c.119C>TNP_066554.2:p.A40V22:29876370 
SelectArg346HisR346HNEFHSubstitutionGAArgHis346exon NM_021076.3:c.1037G>ANP_066554.2:p.R346H22:29879517 
Select1582-1683delA528delGCT..stop 987NEFHDeletiongct at position +1 Ala 528exon4    
Select1965-1988delP655delAGA..stop at 662NEFHDeletioncca at position +3 Pro 655exon4    
Select1989-2006delP663delTGAGAAGGCCAAGTCCCCNEFHDeletioncct at position +3 Pro 663exon4    
Select1989-2030delP663delTGA..stop at 1007NEFHDeletioncct at position +3 Pro 663exon4    
Select2080-2163insAla708ins84bpNEFHInsertiongcc Ala 708exon4    
Select2230-2247delA744delGCC..stop at 1015NEFHDeletiongcc at position +1 Ala 744exon4    
SelectLys867AsnK867NNEFHSubstitutionGTLysAsn867exon NM_021076.3:c.2601G>TNP_066554.2:p.K867N22:29886230rs138156220
SelectGlu918GlyE918GNEFHSubstitutionAGGluGly918exon NM_021076.3:c.2753A>GNP_066554.2:p.E918G22:29886382rs189881592
SelectGly401ArgG401RNETO1SubstitutionGAGlyArg401exon NM_138966.3:c.1204G>ANP_620416.1:p.G401R18:70417634rs149193005 
SelectIle81ThrI81TNIPA1SubstitutionTCIleThr81exon3    
SelectAla86GlyA86GNIPA1Substitution  AlaGly86exon     
SelectIle120MetI120MNIPA1Substitution  IleMet120exon     
SelectVal162MetV162MNIPA1Substitution  ValMet162exon     
SelectMet189IleM189INIPA1Substitution  MetIle189exon     
SelectPro221LeuP221LNIPA1SubstitutionCTProLeu221exon5    
SelectArg281GlnR281QNIPA1Substitution  ArgGln281exon     
SelectHis69TyrH69YOMA1SubstitutionCTHisTyr69exon NM_145243.3:c.205C>TNP_660286.1:p.H69Y1:59004762rs75220198
SelectGlu272GlyE272GOMA1SubstitutionAGGluGly272exon NM_145243.3:c.815A>GNP_660286.1:p.E272G1:58999918rs139938730
SelectAsp365TyrD365YOMA1SubstitutionGTAspTyr365exon NM_145243.3:c.1093G>TNP_660286.1:p.D365Y1:58996320rs77980955
SelectM98K/G291fsM98K/G291fsOPTNFrameshift     exon     
Selectc.553-5C>Tc.553-5C>TOPTNSplice-site     exon NM_021980.4:c.553-5C>T 10:13158262rs2244380
SelectdelExon5delExon5OPTNSubstitution   0exon5    
SelectGly23STOPG23XOPTNSubstitutionGGATGAGlySTOP23exon4NM_021980.4:c.67G>TNP_068815.2:p.G23X10:13151189 
SelectThr34ThrT34TOPTNSubstitutionGAThrThr34exon4NM_021980.4:c.412G>ANP_068815.2:p.T34T10:13151224rs2234968
SelectLeu41LeuL41LOPTNSubstitutionGALeuLeu41exon4NM_021980.4:c.433G>ANP_068815.2:p.L41L10:13151245rs11591687
SelectLys59AsnK59NOPTNSubstitutionAAGAACLysAsn59exon5NM_021980.4:c.177G>CNP_068815.2:p.K59N10:13152284 
SelectAla93ProA93POPTNSubtitutionGCAlaPro93exon5NM_021980.4:c.277G>CNP_068815.2:p.A93P10:13152384 
SelectArg96LeuR96LOPTNSubtitutionGTArgLeu96exon5NM_021980.4:c.287G>TNP_068815.2:p.R96L10:13152394 
SelectMet98LysM98KOPTNSubstitutionTAMetLys98exon5NM_021980.4:c.603T>ANP_068815.2:p.M98K10:13152400rs11258194
SelectLeu100LeuL100LOPTNSilent  LeuLeu100exon5    
SelectAla134AlaA134AOPTNSilent  AlaAla134exon6   rs113955718
SelectArg149ArgR149ROPTNSubstitutionGAArgArg149exon     
SelectGly159ValG159VOPTNSubstitutionGGCGTCGlyVal159exon6NM_021980.4:c.476G>TNP_068815.2:p.G159V10:13154559 
SelectGlu163GluE163EOPTNSubstitutionAGGluGlu163exon6NM_021980.4:c.799A>GNP_068815.2:p.E163E10:13154572rs113811959 
SelectLeu164LeuL164LOPTNSilent  LeuLeu164exon6    
SelectGln165STOPQ165XOPTNSubstitutionCTGln 165exon6NM_021980.4:c.493C>TNP_068815.2:Q165X10:13154576 
SelectGly172GlyG172GOPTNSubstitutionCTGlyGly172exon     
SelectSer218SerS218SOPTNSilentTCSerSer218exon8NM_021980.4:c.654T>CNP_068815.2:p.S218S10:13160915 
SelectArg271CysR271COPTNSubtitutionCTArgCys271exon8NM_021980.4:c.811C>TNP_068815.2:p.R271C10:13164416 
SelectThr282ProT282POPTNSubstitutionACACCAThrPro282exon9NM_021980.4:c.844A>CNP_068815.2:p.T282P10:13164449 
SelectPro286ProP286POPTNSubstitutionGAProPro286exon NM_021980.4:c.876G>ANP_068815.2:p.Pro292=10:13164481rs151065414
SelectGln314LeuQ314LOPTNSubstitutionCAACTAGlnLeu314exon10NM_021980.4:c.941A>TNP_068815.2:p.Q314L10:13166053rs142812715
SelectLys316GluK316EOPTNSubstitutionGALysGlu316exon NM_021980.4:c.964G>ANP_068815.2:p.Glu322Lys10:13166076rs523747
SelectSer321SerS321SOPTNSubstitutionCTSerSer321exon10NM_021980.4:c.963C>TNP_068815.2:p.S321S10:13166075rs150381274
SelectGlu322LysE322KOPTNSubstitutionGAGluLys322exon10NM_021980.4:c.964G>ANP_068815.2:p.E322K10:13166076rs523747
Selectdel P359del P359OPTNDeletion    359exon     
SelectLeu369LeuL369LOPTNSubstitutionAGLeuLeu369exon11NM_021980.4:c.1107T>CNP_068815.2:p.L369L10:13167526 
SelectGln398STOPQ398XOPTNSubstitutionCAATAAGlnSTOP398exon12NM_021980.4:c.1192C>TNP_068815.2:p.Q398X10:13167989rs267606928
Select1242+1G>A_insA1242+1G>A_insAOPTNInsertion    414exon12    
SelectLys440Asnfs*8K440Nfs*8OPTNSubstitution  LysAsn440exon     
SelectGln454GluQ454EOPTNSubstitutionCGGlnGlu454exon13NM_021980.4:c.1360C>GNP_068815.2:p.Q454E10:13169862 
Selectc.1401+4A/Gc.1401+4A/GOPTNSubstitutionAGAG467exon13NM_021980.4:c.1401+4A>G 10:13169907 
SelectGlu478GlyE478GOPTNSubstitutionGAAGGAGluGly478exon14NM_021980.4:c.1433A>GNP_068815.2:p.E478G10:13174098rs267606929
SelectAla481ValA481VOPTNSubstitutionGCGGTGAlaVal481exon14NM_021980.4:c.1442C>TNP_068815.2:p.A481V10:13174107 
SelectLys557ThrK557TOPTNSubstitutionAAGACGLysThr557exon16