LRRK2 leucine rich repeat kinase 2

Annotation transcript: NM_198578.4

871 unique variant annotations were identified in 1256 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
12-40618934-A-G c.1A>G p.M1? Missense 1/51 - 1
12-40618947-G-T c.14G>T p.S5I Missense 1/51 - 1
12-40618957-G-A c.24G>A p.G8= Synonymous 1/51 - 1
12-40618957-G-C c.24G>C p.G8= Synonymous 1/51 - 1
12-40618957-G-T c.24G>T p.G8= Synonymous 1/51 - 1
12-40618958-T-G c.25T>G p.C9G Missense 1/51 - 1
12-40618961-G-A c.28G>A p.E10K Missense 1/51 - 2
12-40618964-GA-AG c.31_32delinsAG p.E11R Missense 1/51 - 1
12-40618964-GAG-TTT c.31_33delinsTTT p.E11F Missense 1/51 - 1
12-40618965-A-C c.32A>C p.E11A Missense 1/51 - 1
12-40618973-GA-AG c.40_41delinsAG p.E14R Missense 1/51 - 1
12-40618973-GAA-TTT c.40_42delinsTTT p.E14F Missense 1/51 - 1
12-40618983-AG-TC c.50_51delinsTC p.K17I Missense 1/51 - 1
12-40618995-T-C c.62T>C p.V21A Missense 1/51 - 1
12-40618997-A-T c.64A>T p.R22W Missense 1/51 - 1
12-40619003-A-C c.70A>C p.N24H Missense 1/51 - 1
12-40619014-G-T c.81G>T p.Q27H Missense 1/51 - 1
12-40619017-A-AG c.86dup p.Q31Tfs*78 Frameshift 1/51 - 1
12-40619021-AA-GC c.88_89delinsGC p.K30A Missense 1/51 - 4
12-40619034-CG-AC c.101_102delinsAC p.T34N Missense 1/51 - 1
12-40619042-C-CA c.112dup p.I38Nfs*71 Frameshift 1/51 - 1
12-40619060-C-T c.127C>T p.L43= Synonymous 1/51 - 1
12-40619062-G-A c.129G>A p.L43= Synonymous 1/51 - 1
12-40619062-G-C c.129G>C p.L43= Synonymous 1/51 - 1
12-40619062-G-T c.129G>T p.L43= Synonymous 1/51 - 1
12-40619069-A-G c.136A>G p.T46A Missense 1/51 - 2
12-40619072-TA-CG c.139_140delinsCG p.Y47R Missense 1/51 - 1
12-40619076-C-T c.143C>T p.S48F Missense 1/51 - 1
12-40619082-G-A c.149G>A p.R50H Missense 1/51 - 7
12-40619360-C-T c.155C>T p.S52F Missense 2/51 - 1
12-40619371-C-G c.166C>G p.Q56E Missense 2/51 - 1
12-40619377-AA-GC c.172_173delinsGC p.K58A Missense 2/51 - 1
12-40619377-A-C c.172A>C p.K58Q Missense 2/51 - 1
12-40619377-A-G c.172A>G p.K58E Missense 2/51 - 2
12-40619397-G-C c.192G>C p.L64= Synonymous 2/51 - 1
12-40619419-A-G c.214A>G p.M72V Missense 2/51 - 1
12-40619428-G-C c.223G>C p.A75P Missense 2/51 - 1
12-40619430-G-A c.225G>A p.A75= Synonymous 2/51 - 1
12-40619430-G-C c.225G>C p.A75= Synonymous 2/51 - 1
12-40619430-G-T c.225G>T p.A75= Synonymous 2/51 - 2
12-40619431-AGT-GAG c.226_228delinsGAG p.S76E Missense 2/51 - 1
12-40619438-A-T c.233A>T p.Q78L Missense 2/51 - 1
12-40619441-A-T c.236A>T p.Q79L Missense 2/51 - 5
12-40619757-T-C c.237+315T>C - IntronicSNV - 2/50 1
12-40620808-C-G c.237+1366C>G - IntronicSNV - 2/50 26
12-40620815-G-A c.237+1373G>A - IntronicSNV - 2/50 3
12-40620881-C-T c.237+1439C>T - IntronicSNV - 2/50 1
12-40621892-A-G c.237+2450A>G - IntronicSNV - 2/50 3
12-40622468-C-A c.237+3026C>A - IntronicSNV - 2/50 1
12-40622790-C-T c.238-3286C>T - IntronicSNV - 2/50 1
12-40623727-G-A c.238-2349G>A - IntronicSNV - 2/50 5
12-40624310-A-G c.238-1766A>G - IntronicSNV - 2/50 2
12-40625081-G-A c.238-995G>A - IntronicSNV - 2/50 3
12-40625798-G-T c.238-278G>T - IntronicSNV - 2/50 1
12-40626076-G-A c.238G>A p.V80M Missense 3/51 - 1
12-40626088-C-G c.250C>G p.L84V Missense 3/51 - 1
12-40626088-C-T c.250C>T p.L84F Missense 3/51 - 1
12-40626108-A-C c.270A>C p.E90D Missense 3/51 - 1
12-40626108-A-T c.270A>T p.E90D Missense 3/51 - 1
12-40626124-A-T c.286A>T p.M96L Missense 3/51 - 1
12-40626145-C-A c.307C>A p.Q103K Missense 3/51 - 1
12-40626166-G-A c.328G>A p.E110K Missense 3/51 - 1
12-40626173-CTTGGT-C c.335_339del p.L112Rfs*7 Frameshift 3/51 - 1
12-40626176-G-C c.338G>C p.G113A Missense 3/51 - 1
12-40628433-C-T c.348-995C>T - IntronicSNV - 3/50 1
12-40629436-T-C c.356T>C p.L119P Missense 4/51 - 7
12-40629444-C-T c.364C>T p.L122= Synonymous 4/51 - 1
12-40629457-A-T c.377A>T p.N126I Missense 4/51 - 1
12-40629462-A-G c.382A>G p.S128G Missense 4/51 - 1
12-40629498-G-C c.418G>C p.D140H Missense 4/51 - 4
12-40629554-A-T c.436+38A>T - IntronicSNV - 4/50 2
12-40631608-G-A c.437-163G>A - IntronicSNV - 4/50 1
12-40631779-A-G c.445A>G p.T149A Missense 5/51 - 1
12-40631780-C-G c.446C>G p.T149S Missense 5/51 - 1
12-40631782-TT-CC c.448_449delinsCC p.L150P Missense 5/51 - 1
12-40631788-A-C c.454A>C p.I152L Missense 5/51 - 1
12-40631788-A-T c.454A>T p.I152L Missense 5/51 - 1
12-40631791-T-A c.457T>A p.L153M Missense 5/51 - 6
12-40631791-T-C c.457T>C p.L153= Synonymous 5/51 - 14
12-40631791-TT-CG c.457_458delinsCG p.L153R Missense 5/51 - 1
12-40631793-G-A c.459G>A p.L153= Synonymous 5/51 - 6
12-40631843-T-G c.509T>G p.F170C Missense 5/51 - 1
12-40631847-A-C c.513A>C p.P171= Synonymous 5/51 - 2
12-40631847-A-G c.513A>G p.P171= Synonymous 5/51 - 2
12-40631847-A-T c.513A>T p.P171= Synonymous 5/51 - 2
12-40631855-A-G c.521A>G p.D174G Missense 5/51 - 1
12-40631867-A-C c.533A>C p.K178T Missense 5/51 - 1
12-40631880-A-G c.546A>G p.K182= Synonymous 5/51 - 1
12-40631890-GTG-TTT c.556_558delinsTTT p.V186F Missense 5/51 - 1
12-40632099-T-G c.571+194T>G - IntronicSNV - 5/50 3
12-40632100-C-T c.571+195C>T - IntronicSNV - 5/50 3
12-40633314-T-A c.572-971T>A - IntronicSNV - 5/50 2
12-40633314-T-C c.572-971T>C - IntronicSNV - 5/50 2
12-40633314-T-G c.572-971T>G - IntronicSNV - 5/50 2
12-40634158-T-C c.572-127T>C - IntronicSNV - 5/50 1
12-40634203-A-G c.572-82A>G - IntronicSNV - 5/50 4
12-40634290-G-A c.577G>A p.E193K Missense 6/51 - 12
12-40634317-A-T c.604A>T p.N202Y Missense 6/51 - 1
12-40634334-A-G c.621A>G p.I207M Missense 6/51 - 1
12-40634345-C-T c.632C>T p.A211V Missense 6/51 - 6
12-40634395-T-A c.682T>A p.C228S Missense 6/51 - 4
12-40634395-TG-AC c.682_683delinsAC p.C228T Missense 6/51 - 2
12-40634396-G-C c.683G>C p.C228S Missense 6/51 - 5
12-40634402-A-G c.689A>G p.H230R Missense 6/51 - 1
12-40634409-A-G c.696A>G p.L232= Synonymous 6/51 - 1
12-40634419-T-A c.706T>A p.C236S Missense 6/51 - 1
12-40637352-G-C c.707G>C p.C236S Missense 7/51 - 1
12-40637358-A-T c.713A>T p.N238I Missense 7/51 - 2
12-40637360-G-T c.715G>T p.V239L Missense 7/51 - 1
12-40637384-GTC-TAA c.739_741delinsTAA p.V247* Nonsense 7/51 - 1
12-40637387-AG-CA c.742_743delinsCA p.R248Q Missense 7/51 - 1
12-40637391-G-A c.746G>A p.C249Y Missense 7/51 - 1
12-40637421-C-A c.776C>A p.A259E Missense 7/51 - 1
12-40637435-G-GAATTT c.792_793insTTTAA p.R265Ffs*7 Frameshift 7/51 - 1
12-40637438-AGA-TGT c.793_795delinsTGT p.R265C Missense 7/51 - 1
12-40637439-G-T c.794G>T p.R265I Missense 7/51 - 1
12-40637459-T-A c.814T>A p.C272S Missense 7/51 - 1
12-40637460-G-C c.815G>C p.C272S Missense 7/51 - 1
12-40637464-G-C c.819G>C p.L273F Missense 7/51 - 1
12-40637470-T-C c.825T>C p.H275= Synonymous 7/51 - 2
12-40639561-A-G c.838+2078A>G - IntronicSNV - 7/50 1
12-40639561-A-T c.838+2078A>T - IntronicSNV - 7/50 1
12-40639901-C-T c.838+2418C>T - IntronicSNV - 7/50 1
12-40640160-T-C c.838+2677T>C - IntronicSNV - 7/50 1
12-40640626-A-G c.839-3002A>G - IntronicSNV - 7/50 1
12-40641692-A-G c.839-1936A>G - IntronicSNV - 7/50 3
12-40643071-A-G c.839-557A>G - IntronicSNV - 7/50 1
12-40643637-T-C c.848T>C p.F283S Missense 8/51 - 1
12-40643648-G-A c.859G>A p.V287I Missense 8/51 - 1
12-40643655-A-G c.866A>G p.N289S Missense 8/51 - 2
12-40643656-C-T c.867C>T p.N289= Synonymous 8/51 - 1
12-40643661-T-C c.872T>C p.V291A Missense 8/51 - 1
12-40643679-A-G c.890A>G p.K297R Missense 8/51 - 1
12-40643683-T-C c.894T>C p.A298= Synonymous 8/51 - 1
12-40643689-G-A c.900G>A p.Q300= Synonymous 8/51 - 1
12-40643713-G-A c.924G>A p.L308= Synonymous 8/51 - 1
12-40643721-CA-GT c.932_933delinsGT p.S311C Missense 8/51 - 1
12-40643725-G-T c.936G>T p.A312= Synonymous 8/51 - 1
12-40643726-C-T c.937C>T p.L313F Missense 8/51 - 1
12-40644503-C-T c.959-531C>T - IntronicSNV - 8/50 1
12-40644874-C-A c.959-160C>A - IntronicSNV - 8/50 1
12-40644874-C-T c.959-160C>T - IntronicSNV - 8/50 1
12-40645075-G-A c.1000G>A p.E334K Missense 9/51 - 6
12-40645082-A-G c.1007A>G p.Q336R Missense 9/51 - 1
12-40645083-A-C c.1008A>C p.Q336H Missense 9/51 - 1
12-40645083-A-T c.1008A>T p.Q336H Missense 9/51 - 1
12-40645111-A-T c.1036A>T p.K346* Nonsense 9/51 - 1
12-40645114-TT-CC c.1039_1040delinsCC p.L347P Missense 9/51 - 3
12-40645141-G-A c.1066G>A p.A356T Missense 9/51 - 1
12-40645150-T-A c.1075T>A p.W359R Missense 9/51 - 1
12-40645150-T-C c.1075T>C p.W359R Missense 9/51 - 1
12-40645163-A-G c.1088A>G p.N363S Missense 9/51 - 1
12-40645171-G-A c.1096G>A p.V366M Missense 9/51 - 1
12-40645257-C-A c.1102-10C>A - IntronicSNV - 9/50 2
12-40645282-GCA-TTT c.1117_1119delinsTTT p.A373F Missense 10/51 - 1
12-40645291-AA-TT c.1126_1127inv p.N376F Missense 10/51 - 1
12-40645292-A-C c.1127A>C p.N376T Missense 10/51 - 1
12-40645306-C-A c.1141C>A p.Q381K Missense 10/51 - 1
12-40645321-G-C c.1156G>C p.E386Q Missense 10/51 - 1
12-40645330-G-A c.1165G>A p.G389R Missense 10/51 - 6
12-40645330-G-C c.1165G>C p.G389R Missense 10/51 - 6
12-40645331-G-A c.1166G>A p.G389E Missense 10/51 - 1
12-40645331-G-T c.1166G>T p.G389V Missense 10/51 - 1
12-40645333-G-A c.1168G>A p.D390N Missense 10/51 - 1
12-40645336-G-C c.1171G>C p.E391Q Missense 10/51 - 1
12-40645339-G-A c.1174G>A p.D392N Missense 10/51 - 1
12-40645340-GAT-G c.1175_1176del p.D392Gfs*7 Frameshift 10/51 - 1
12-40645345-C-T c.1180C>T p.H394Y Missense 10/51 - 1
12-40645596-A-G c.1181+250A>G - IntronicSNV - 10/50 2
12-40645630-G-A c.1181+284G>A - IntronicSNV - 10/50 7
12-40646719-G-A c.1189G>A p.A397T Missense 11/51 - 1
12-40646740-TCC-GAG c.1210_1212delinsGAG p.S404E Missense 11/51 - 1
12-40646785-G-A c.1255G>A p.A419T Missense 11/51 - 1
12-40646786-C-T c.1256C>T p.A419V Missense 11/51 - 28
12-40646812-C-T c.1282C>T p.Q428* Nonsense 11/51 - 1
12-40646948-G-A c.1288+130G>A - IntronicSNV - 11/50 1
12-40646982-T-G c.1288+164T>G - IntronicSNV - 11/50 1
12-40648250-T-A c.1288+1432T>A - IntronicSNV - 11/50 1
12-40649134-C-T c.1289-1916C>T - IntronicSNV - 11/50 1
12-40649888-G-A c.1289-1162G>A - IntronicSNV - 11/50 1
12-40650502-G-A c.1289-548G>A - IntronicSNV - 11/50 2
12-40651058-A-G c.1297A>G p.R433G Missense 12/51 - 1
12-40651070-TT-CC c.1309_1310delinsCC p.L437P Missense 12/51 - 2
12-40651076-A-G c.1315A>G p.K439E Missense 12/51 - 2
12-40651085-C-T c.1324C>T p.H442Y Missense 12/51 - 1
12-40651104-T-C c.1343T>C p.L448S Missense 12/51 - 2
12-40651118-A-G c.1357A>G p.I453V Missense 12/51 - 1
12-40651124-T-C c.1363T>C p.S455P Missense 12/51 - 1
12-40651127-C-T c.1366C>T p.P456S Missense 12/51 - 1
12-40651133-G-C c.1372G>C p.V458L Missense 12/51 - 3
12-40651133-G-T c.1372G>T p.V458L Missense 12/51 - 3
12-40651144-T-C c.1383T>C p.S461= Synonymous 12/51 - 1
12-40651169-T-C c.1408T>C p.F470L Missense 12/51 - 1
12-40651171-T-A c.1410T>A p.F470L Missense 12/51 - 1
12-40651171-T-G c.1410T>G p.F470L Missense 12/51 - 1
12-40651173-A-G c.1412A>G p.E471G Missense 12/51 - 1
12-40651175-G-A c.1414G>A p.G472R Missense 12/51 - 1
12-40651175-G-C c.1414G>C p.G472R Missense 12/51 - 1
12-40652394-A-G c.1419-888A>G - IntronicSNV - 12/50 1
12-40652520-T-C c.1419-762T>C - IntronicSNV - 12/50 3
12-40653298-A-C c.1435A>C p.I479L Missense 13/51 - 1
12-40653298-A-T c.1435A>T p.I479L Missense 13/51 - 1
12-40653311-T-C c.1448T>C p.V483A Missense 13/51 - 1
12-40653327-A-T c.1464A>T p.L488= Synonymous 13/51 - 1
12-40653405-T-TG c.1543+1dup - SpliceDonorInsertion 13/51 - 1
12-40653408-T-C c.1543+2T>C - IntronicSNV - 13/50 1
12-40653510-G-A c.1543+104G>A - IntronicSNV - 13/50 4
12-40653993-T-C c.1543+587T>C - IntronicSNV - 13/50 1
12-40654873-A-G c.1543+1467A>G - IntronicSNV - 13/50 1
12-40656179-A-G c.1544-1412A>G - IntronicSNV - 13/50 1
12-40657225-G-A c.1544-366G>A - IntronicSNV - 13/50 1
12-40657537-A-G c.1544-54A>G - IntronicSNV - 13/50 1
12-40657537-A-T c.1544-54A>T - IntronicSNV - 13/50 1
12-40657599-G-A c.1552G>A p.E518K Missense 14/51 - 1
12-40657608-A-G c.1561A>G p.R521G Missense 14/51 - 3
12-40657653-C-A c.1606C>A p.Q536K Missense 14/51 - 1
12-40657653-C-T c.1606C>T p.Q536* Nonsense 14/51 - 1
12-40657677-AA-GT c.1630_1631delinsGT p.K544V Missense 14/51 - 1
12-40657677-A-G c.1630A>G p.K544E Missense 14/51 - 4
12-40657696-T-G c.1649T>G p.L550W Missense 14/51 - 1
12-40657700-C-A c.1653C>A p.N551K Missense 14/51 - 50
12-40657700-C-G c.1653C>G p.N551K Missense 14/51 - 42
12-40657701-AG-A c.1656+1del - Frameshift - 14/50 1
12-40657771-C-A c.1656+68C>A - IntronicSNV - 14/50 1
12-40657771-C-G c.1656+68C>G - IntronicSNV - 14/50 1
12-40657771-C-T c.1656+68C>T - IntronicSNV - 14/50 1
12-40657868-A-C c.1656+165A>C - IntronicSNV - 14/50 1
12-40658053-T-C c.1656+350T>C - IntronicSNV - 14/50 1
12-40658622-G-A c.1656+919G>A - IntronicSNV - 14/50 1
12-40658964-G-T c.1656+1261G>T - IntronicSNV - 14/50 1
12-40659658-C-A c.1656+1955C>A - IntronicSNV - 14/50 1
12-40660880-A-T c.1656+3177A>T - IntronicSNV - 14/50 1
12-40661403-A-C c.1656+3700A>C - IntronicSNV - 14/50 2
12-40661403-A-T c.1656+3700A>T - IntronicSNV - 14/50 2
12-40663596-G-T c.1657-4789G>T - IntronicSNV - 14/50 2
12-40664643-T-A c.1657-3742T>A - IntronicSNV - 14/50 1
12-40665227-G-A c.1657-3158G>A - IntronicSNV - 14/50 1
12-40665227-G-C c.1657-3158G>C - IntronicSNV - 14/50 1
12-40666737-G-A c.1657-1648G>A - IntronicSNV - 14/50 1
12-40666760-A-T c.1657-1625A>T - IntronicSNV - 14/50 2
12-40666875-C-A c.1657-1510C>A - IntronicSNV - 14/50 1
12-40666875-C-G c.1657-1510C>G - IntronicSNV - 14/50 1
12-40666875-C-T c.1657-1510C>T - IntronicSNV - 14/50 1
12-40668388-A-T c.1660A>T p.I554F Missense 15/51 - 1
12-40668391-G-A c.1663G>A p.G555R Missense 15/51 - 1
12-40668396-T-C c.1668T>C p.N556= Synonymous 15/51 - 1
12-40668397-C-T c.1669C>T p.P557S Missense 15/51 - 1
12-40668402-G-A c.1674G>A p.G558= Synonymous 15/51 - 1
12-40668445-T-C c.1717T>C p.F573L Missense 15/51 - 1
12-40668447-T-A c.1719T>A p.F573L Missense 15/51 - 1
12-40668447-T-G c.1719T>G p.F573L Missense 15/51 - 1
12-40668454-G-A c.1726G>A p.A576T Missense 15/51 - 1
12-40668461-A-T c.1733A>T p.E578V Missense 15/51 - 1
12-40668511-A-T c.1783A>T p.M595L Missense 15/51 - 1
12-40668695-T-G c.1841T>G p.I614S Missense 16/51 - 1
12-40668701-A-G c.1847A>G p.K616R Missense 16/51 - 1
12-40668706-A-T c.1852A>T p.N618Y Missense 16/51 - 1
12-40668752-C-T c.1898C>T p.S633F Missense 16/51 - 1
12-40668756-C-T c.1902C>T p.S634= Synonymous 16/51 - 1
12-40669869-T-A c.1941+1074T>A - IntronicSNV - 16/50 1
12-40669939-T-C c.1941+1144T>C - IntronicSNV - 16/50 1
12-40670394-G-A c.1942-1296G>A - IntronicSNV - 16/50 2
12-40670801-C-T c.1942-889C>T - IntronicSNV - 16/50 1
12-40670998-C-A c.1942-692C>A - IntronicSNV - 16/50 6
12-40671690-GGA-AGC c.1942_1944delinsAGC p.G648S Missense 17/51 - 1
12-40671712-T-A c.1964T>A p.I655N Missense 17/51 - 1
12-40671713-C-G c.1965C>G p.I655M Missense 17/51 - 1
12-40671727-CATCTTTTTCTA-C c.1981_1991del p.S661Afs*8 Frameshift 17/51 - 1
12-40671735-T-C c.1987T>C p.S663P Missense 17/51 - 1
12-40671747-G-A c.1999G>A p.V667M Missense 17/51 - 1
12-40671770-A-C c.2022A>C p.V674= Synonymous 17/51 - 2
12-40671804-C-T c.2056C>T p.Q686* Nonsense 17/51 - 1
12-40671815-A-G c.2067A>G p.Q689= Synonymous 17/51 - 1
12-40671912-A-G c.2090A>G p.K697R Missense 18/51 - 1
12-40671938-G-A c.2116G>A p.D706N Missense 18/51 - 1
12-40671943-C-T c.2121C>T p.Y707= Synonymous 18/51 - 1
12-40671950-A-T c.2128A>T p.N710Y Missense 18/51 - 1
12-40671945-TA-T c.2129del p.N710Mfs*2 Frameshift 18/51 - 1
12-40671945-T-TA c.2129dup p.N710Kfs*9 Frameshift 18/51 - 1
12-40671956-A-G c.2134A>G p.M712V Missense 18/51 - 4
12-40671969-C-T c.2147C>T p.A716V Missense 18/51 - 2
12-40671980-A-G c.2158A>G p.N720D Missense 18/51 - 1
12-40671989-A-G c.2167A>G p.I723V Missense 18/51 - 9
12-40672001-TG-GA c.2179_2180delinsGA p.C727D Missense 18/51 - 1
12-40672004-TTG-GAC c.2182_2184delinsGAC p.L728D Missense 18/51 - 4
12-40672007-CT-GA c.2185_2186delinsGA p.L729D Missense 18/51 - 3
12-40672022-G-A c.2200G>A p.D734N Missense 18/51 - 1
12-40672034-G-A c.2212G>A p.A738T Missense 18/51 - 1
12-40672058-TG-GC c.2236_2237delinsGC p.C746A Missense 18/51 - 1
12-40672514-G-T c.2241+451G>T - IntronicSNV - 18/50 1
12-40674634-C-T c.2241+2571C>T - IntronicSNV - 18/50 1
12-40676200-G-T c.2242-1477G>T - IntronicSNV - 18/50 3
12-40677008-G-A c.2242-669G>A - IntronicSNV - 18/50 1
12-40677029-A-C c.2242-648A>C - IntronicSNV - 18/50 3
12-40677655-C-T c.2242-22C>T - IntronicSNV - 18/50 2
12-40677676-G-A c.2242-1G>A - IntronicSNV - 18/50 1
12-40677699-C-T c.2264C>T p.P755L Missense 19/51 - 15
12-40677710-G-T c.2275G>T p.E759* Nonsense 19/51 - 1
12-40677713-CT-GA c.2278_2279delinsGA p.L760D Missense 19/51 - 1
12-40677716-TTA-GAC c.2281_2283delinsGAC p.L761D Missense 19/51 - 1
12-40677719-CTG-GAC c.2284_2286delinsGAC p.L762D Missense 19/51 - 1
12-40677735-G-A c.2300G>A p.R767H Missense 19/51 - 1
12-40677749-C-T c.2314C>T p.R772* Nonsense 19/51 - 3
12-40677800-TTG-GAC c.2365_2367delinsGAC p.L789D Missense 19/51 - 1
12-40677803-CT-GA c.2368_2369delinsGA p.L790D Missense 19/51 - 1
12-40677806-TTA-GAC c.2371_2373delinsGAC p.L791D Missense 19/51 - 1
12-40677813-G-T c.2378G>T p.R793M Missense 19/51 - 23
12-40677815-C-G c.2380C>G p.L794V Missense 19/51 - 1
12-40677815-C-T c.2380C>T p.L794= Synonymous 19/51 - 1
12-40677817-G-A c.2382G>A p.L794= Synonymous 19/51 - 1
12-40677835-C-CAG c.2401_2402insGA p.N801Rfs*11 Frameshift 19/51 - 1
12-40677838-T-A c.2403T>A p.N801K Missense 19/51 - 1
12-40677855-G-T c.2420G>T p.G807V Missense 19/51 - 1
12-40677863-A-G c.2428A>G p.I810V Missense 19/51 - 1
12-40677902-C-A c.2467C>A p.P823T Missense 19/51 - 1
12-40677911-A-T c.2476A>T p.T826S Missense 19/51 - 1
12-40677912-C-G c.2477C>G p.T826S Missense 19/51 - 1
12-40677916-T-C c.2481T>C p.S827= Synonymous 19/51 - 1
12-40677927-A-G c.2492A>G p.K831R Missense 19/51 - 1
12-40677934-CAA-C c.2499_2500del p.N834Yfs*32 SpliceDonorDeletion 19/51 - 1
12-40677933-CAAGT-C c.2500+5_2500+8del - IntronicDeletion - 19/50 1
12-40680917-T-C c.2501-236T>C - IntronicSNV - 19/50 1
12-40680941-A-G c.2501-212A>G - IntronicSNV - 19/50 1
12-40681155-A-C c.2503A>C p.I835L Missense 20/51 - 1
12-40681155-A-T c.2503A>T p.I835L Missense 20/51 - 1
12-40681162-C-T c.2510C>T p.S837F Missense 20/51 - 1
12-40681174-G-C c.2522G>C p.R841T Missense 20/51 - 1
12-40681228-G-A c.2576G>A p.G859D Missense 20/51 - 1
12-40681254-G-T c.2602G>T p.V868L Missense 20/51 - 1
12-40681263-A-G c.2611A>G p.K871E Missense 20/51 - 2
12-40681305-A-T c.2653A>T p.S885C Missense 20/51 - 1
12-40681306-G-A c.2654G>A p.S885N Missense 20/51 - 1
12-40681333-A-T c.2681A>T p.D894V Missense 20/51 - 1
12-40683344-A-C c.2689+2003A>C - IntronicSNV - 20/50 1
12-40684692-A-G c.2690-2655A>G - IntronicSNV - 20/50 1
12-40686038-G-T c.2690-1309G>T - IntronicSNV - 20/50 1
12-40686245-C-A c.2690-1102C>A - IntronicSNV - 20/50 1
12-40687352-G-T c.2695G>T p.E899* Nonsense 21/51 - 1
12-40687358-TC-GA c.2701_2702inv p.S901E Missense 21/51 - 1
12-40687359-C-A c.2702C>A p.S901* Nonsense 21/51 - 1
12-40687370-AAA-TGG c.2713_2715delinsTGG p.K905W Missense 21/51 - 1
12-40687379-TCT-GAG c.2722_2724delinsGAG p.S908E Missense 21/51 - 2
12-40687379-T-G c.2722T>G p.S908A Missense 21/51 - 2
12-40687385-TCA-GAC c.2728_2730delinsGAC p.S910D Missense 21/51 - 2
12-40687385-T-G c.2728T>G p.S910A Missense 21/51 - 13
12-40687400-G-T c.2743G>T p.E915* Nonsense 21/51 - 1
12-40687409-C-T c.2752C>T p.R918* Nonsense 21/51 - 3
12-40687415-G-A c.2758G>A p.A920T Missense 21/51 - 1
12-40687418-G-A c.2761G>A p.V921I Missense 21/51 - 1
12-40687426-G-C c.2769G>C p.Q923H Missense 21/51 - 2
12-40687426-G-T c.2769G>T p.Q923H Missense 21/51 - 1
12-40687446-A-G c.2789A>G p.Q930R Missense 21/51 - 4
12-40687460-TCC-GAG c.2803_2805delinsGAG p.S935E Missense 21/51 - 2
12-40687460-TC-GA c.2803_2804inv p.S935D Missense 21/51 - 2
12-40687460-T-G c.2803T>G p.S935A Missense 21/51 - 14
12-40688081-A-G c.2809-566A>G - IntronicSNV - 21/50 2
12-40688497-C-T c.2809-150C>T - IntronicSNV - 21/50 1
12-40688646-G-A c.2809-1G>A - IntronicSNV - 21/50 1
12-40688668-G-T c.2830G>T p.D944Y Missense 22/51 - 1
12-40688695-T-C c.2857T>C p.L953= Synonymous 22/51 - 13
12-40688697-A-G c.2859A>G p.L953= Synonymous 22/51 - 4
12-40688701-TCA-GAC c.2863_2865delinsGAC p.S955D Missense 22/51 - 1
12-40688701-T-G c.2863T>G p.S955A Missense 22/51 - 3
12-40689267-AGC-GAG c.2917_2919delinsGAG p.S973E Missense 23/51 - 2
12-40689267-AG-GA c.2917_2918delinsGA p.S973D Missense 23/51 - 1
12-40689267-AG-GC c.2917_2918delinsGC p.S973A Missense 23/51 - 4
12-40689268-G-A c.2918G>A p.S973N Missense 23/51 - 2
12-40689334-G-T c.2984G>T p.R995I Missense 23/51 - 1
12-40689336-G-T c.2986G>T p.D996Y Missense 23/51 - 1
12-40689368-A-G c.3018A>G p.I1006M Missense 23/51 - 1
12-40689371-T-C c.3021T>C p.S1007= Synonymous 23/51 - 1
12-40689437-G-T c.3087G>T p.Q1029H Missense 23/51 - 1
12-40689444-G-A c.3094G>A p.E1032K Missense 23/51 - 1
12-40689588-C-T c.3096+142C>T - IntronicSNV - 23/50 1
12-40692094-C-T c.3146C>T p.S1049L Missense 24/51 - 1
12-40692110-G-C c.3162G>C p.L1054F Missense 24/51 - 1
12-40692110-G-T c.3162G>T p.L1054F Missense 24/51 - 1
12-40692148-G-A c.3200G>A p.R1067Q Missense 24/51 - 8
12-40692162-C-A c.3214C>A p.P1072T Missense 24/51 - 1
12-40692219-T-C c.3271T>C p.S1091P Missense 24/51 - 1
12-40692235-C-G c.3287C>G p.S1096C Missense 24/51 - 4
12-40692281-G-C c.3333G>C p.Q1111H Missense 24/51 - 3
12-40692281-G-T c.3333G>T p.Q1111H Missense 24/51 - 7
12-40692288-T-C c.3340T>C p.L1114= Synonymous 24/51 - 10
12-40692290-A-G c.3342A>G p.L1114= Synonymous 24/51 - 13
12-40692927-A-G c.3364A>G p.I1122V Missense 25/51 - 27
12-40692953-A-C c.3390A>C p.E1130D Missense 25/51 - 1
12-40692986-T-A c.3423T>A p.I1141= Synonymous 25/51 - 1
12-40692986-T-C c.3423T>C p.I1141= Synonymous 25/51 - 1
12-40693014-G-A c.3451G>A p.A1151T Missense 25/51 - 4
12-40693018-G-T c.3455G>T p.C1152F Missense 25/51 - 1
12-40693044-A-G c.3481A>G p.R1161G Missense 25/51 - 1
12-40693057-T-C c.3494T>C p.L1165P Missense 25/51 - 12
12-40693225-A-C c.3496+166A>C - IntronicSNV - 25/50 1
12-40693806-G-T c.3496+747G>T - IntronicSNV - 25/50 1
12-40696612-C-T c.3518C>T p.P1173L Missense 26/51 - 1
12-40696618-T-C c.3524T>C p.M1175T Missense 26/51 - 1
12-40696632-TT-AC c.3538_3539delinsAC p.L1180T Missense 26/51 - 3
12-40696656-A-G c.3562A>G p.I1188V Missense 26/51 - 1
12-40696668-A-G c.3574A>G p.I1192V Missense 26/51 - 3
12-40697434-G-A c.3591-316G>A - IntronicSNV - 26/50 2
12-40697796-G-A c.3637G>A p.G1213S Missense 27/51 - 1
12-40697800-C-T c.3641C>T p.P1214L Missense 27/51 - 1
12-40697802-G-A c.3643G>A p.A1215T Missense 27/51 - 1
12-40697806-A-G c.3647A>G p.H1216R Missense 27/51 - 1
12-40697815-C-A c.3656C>A p.S1219Y Missense 27/51 - 1
12-40697829-G-T c.3670G>T p.E1224* Nonsense 27/51 - 1
12-40697838-T-C c.3679T>C p.F1227L Missense 27/51 - 1
12-40697840-T-A c.3681T>A p.F1227L Missense 27/51 - 1
12-40697840-T-G c.3681T>G p.F1227L Missense 27/51 - 1
12-40697842-G-C c.3683G>C p.S1228T Missense 27/51 - 4
12-40697842-G-T c.3683G>T p.S1228I Missense 27/51 - 1
12-40698422-C-T c.3777+486C>T - IntronicSNV - 27/50 1
12-40698686-A-G c.3777+750A>G - IntronicSNV - 27/50 5
12-40699593-C-G c.3784C>G p.P1262A Missense 28/51 - 3
12-40699615-A-G c.3806A>G p.N1269S Missense 28/51 - 1
12-40699621-C-T c.3812C>T p.T1271I Missense 28/51 - 2
12-40699623-T-C c.3814T>C p.S1272P Missense 28/51 - 1
12-40699655-A-C c.3846A>C p.R1282S Missense 28/51 - 1
12-40699655-A-T c.3846A>T p.R1282S Missense 28/51 - 1
12-40699683-AG-GA c.3874_3875delinsGA p.S1292D Missense 28/51 - 2
12-40699683-AG-GC c.3874_3875delinsGC p.S1292A Missense 28/51 - 11
12-40699687-A-G c.3878A>G p.K1293R Missense 28/51 - 1
12-40699692-T-C c.3883T>C p.W1295R Missense 28/51 - 1
12-40699696-A-G c.3887A>G p.D1296G Missense 28/51 - 1
12-40699748-T-A c.3939T>A p.C1313* Nonsense 28/51 - 2
12-40699757-A-C c.3948A>C p.K1316N Missense 28/51 - 1
12-40699757-A-T c.3948A>T p.K1316N Missense 28/51 - 1
12-40701959-A-T c.3960-310A>T - IntronicSNV - 28/50 1
12-40702164-C-T c.3960-105C>T - IntronicSNV - 28/50 1
12-40702269-G-T c.3960G>T p.R1320S Missense 29/51 - 1
12-40702283-G-A c.3974G>A p.R1325Q Missense 29/51 - 2
12-40702309-C-T c.4000C>T p.R1334* Nonsense 29/51 - 2
12-40702310-G-A c.4001G>A p.R1334Q Missense 29/51 - 2
12-40702315-AAA-TGT c.4006_4008delinsTGT p.K1336C Missense 29/51 - 1
12-40702321-ATGAT-A c.4015_4018del p.I1339Wfs*15 Frameshift 29/51 - 1
12-40702325-ATTGTGGGAAATACTGGGAGTGGTAAAACCACCTTATTGCAGCAATTAATGAAAACCAAG-A c.4016_4074del p.I1339Kfs*41 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 29/51 - 1
12-40702326-T-G c.4017T>G p.I1339M Missense 29/51 - 1
12-40702336-AC-GA c.4027_4028delinsGA p.T1343D Missense 29/51 - 1
12-40702336-AC-GG c.4027_4028delinsGG p.T1343G Missense 29/51 - 8
12-40702336-AC-GT c.4027_4028inv p.T1343V Missense 29/51 - 4
12-40702336-A-G c.4027A>G p.T1343A Missense 29/51 - 3
12-40702339-G-A c.4030G>A p.G1344R Missense 29/51 - 1
12-40702342-AG-GC c.4033_4034delinsGC p.S1345A Missense 29/51 - 1
12-40702346-G-A c.4037G>A p.G1346D Missense 29/51 - 1
12-40702348-AA-GC c.4039_4040delinsGC p.K1347A Missense 29/51 - 48
12-40702350-A-C c.4041A>C p.K1347N Missense 29/51 - 1
12-40702350-A-T c.4041A>T p.K1347N Missense 29/51 - 1
12-40702351-AC-GA c.4042_4043delinsGA p.T1348D Missense 29/51 - 1
12-40702351-A-G c.4042A>G p.T1348A Missense 29/51 - 5
12-40702352-C-A c.4043C>A p.T1348N Missense 29/51 - 47
12-40702354-AC-GA c.4045_4046delinsGA p.T1349D Missense 29/51 - 1
12-40702354-A-G c.4045A>G p.T1349A Missense 29/51 - 2
12-40702366-C-A c.4057C>A p.Q1353K Missense 29/51 - 1
12-40702378-AC-GA c.4069_4070delinsGA p.T1357D Missense 29/51 - 1
12-40702378-A-G c.4069A>G p.T1357A Missense 29/51 - 2
12-40702420-A-G c.4111A>G p.I1371V Missense 29/51 - 36
12-40702423-G-A c.4114G>A p.D1372N Missense 29/51 - 1
12-40702434-C-A c.4125C>A p.D1375E Missense 29/51 - 1
12-40702471-C-A c.4162C>A p.L1388I Missense 29/51 - 1
12-40702474-G-A c.4165G>A p.V1389I Missense 29/51 - 2
12-40702490-A-C c.4181A>C p.D1394A Missense 29/51 - 1
12-40702911-G-A c.4193G>A p.R1398H Missense 30/51 - 73
12-40702911-G-T c.4193G>T p.R1398L Missense 30/51 - 24
12-40702911-GT-AA c.4193_4194delinsAA p.R1398Q Missense 30/51 - 9
12-40702915-G-A c.4197G>A p.E1399= Synonymous 30/51 - 1
12-40702925-AG-GC c.4207_4208delinsGC p.S1403A Missense 30/51 - 1
12-40702946-ACG-GAC c.4228_4230delinsGAC p.T1410D Missense 30/51 - 2
12-40702946-A-G c.4228A>G p.T1410A Missense 30/51 - 2
12-40702947-C-T c.4229C>T p.T1410M Missense 30/51 - 5
12-40702952-C-T c.4234C>T p.R1412* Nonsense 30/51 - 3
12-40702955-G-A c.4237G>A p.A1413T Missense 30/51 - 5
12-40702971-T-G c.4253T>G p.V1418G Missense 30/51 - 1
12-40702974-A-G c.4256A>G p.Y1419C Missense 30/51 - 1
12-40702976-G-A c.4258G>A p.D1420N Missense 30/51 - 1
12-40702982-A-C c.4264A>C p.S1422R Missense 30/51 - 1
12-40702984-C-A c.4266C>A p.S1422R Missense 30/51 - 1
12-40702984-C-G c.4266C>G p.S1422R Missense 30/51 - 1
12-40702987-G-A c.4269G>A p.K1423= Synonymous 30/51 - 20
12-40703008-C-A c.4290C>A p.A1430= Synonymous 30/51 - 1
12-40703008-C-G c.4290C>G p.A1430= Synonymous 30/51 - 1
12-40703008-C-T c.4290C>T p.A1430= Synonymous 30/51 - 2
12-40703027-AA-TT c.4309_4310inv p.N1437F Missense 30/51 - 1
12-40703027-A-C c.4309A>C p.N1437H Missense 30/51 - 132
12-40703027-A-T c.4309A>T p.N1437Y Missense 30/51 - 1
12-40703028-A-G c.4310A>G p.N1437S Missense 30/51 - 5
12-40703033-A-T c.4315A>T p.K1439* Nonsense 30/51 - 1
12-40703047-CT-C c.4317+12del - IntronicDeletion - 30/50 1
12-40703152-C-A c.4317+117C>A - IntronicSNV - 30/50 1
12-40704236-C-A c.4321C>A p.R1441S Missense 31/51 - 6
12-40704236-C-G c.4321C>G p.R1441G Missense 31/51 - 521
12-40704236-CGC-AAG c.4321_4323delinsAAG p.R1441K Missense 31/51 - 1
12-40704236-CGC-TGA c.4321_4323delinsTGA p.R1441* Nonsense 31/51 - 2
12-40704236-CG-TA c.4321_4322delinsTA p.R1441Y Missense 31/51 - 1
12-40704236-C-T c.4321C>T p.R1441C Missense 31/51 - 710
12-40704237-G-A c.4322G>A p.R1441H Missense 31/51 - 153
12-40704238-C-A c.4323C>A p.R1441= Synonymous 31/51 - 3
12-40704238-C-G c.4323C>G p.R1441= Synonymous 31/51 - 3
12-40704238-C-T c.4323C>T p.R1441= Synonymous 31/51 - 4
12-40704239-G-C c.4324G>C p.A1442P Missense 31/51 - 7
12-40704242-T-G c.4327T>G p.S1443A Missense 31/51 - 1
12-40704245-T-G c.4330T>G p.S1444A Missense 31/51 - 1
12-40704249-C-G c.4334C>G p.S1445C Missense 31/51 - 1
12-40704252-C-T c.4337C>T p.P1446L Missense 31/51 - 5
12-40704254-G-A c.4339G>A p.V1447M Missense 31/51 - 1
12-40704263-G-A c.4348G>A p.V1450I Missense 31/51 - 3
12-40704270-C-T c.4355C>T p.T1452I Missense 31/51 - 1
12-40704273-A-G c.4358A>G p.H1453R Missense 31/51 - 1
12-40704301-C-CA c.4389dup p.A1464Sfs*5 Frameshift 31/51 - 1
12-40704306-C-G c.4391C>G p.A1464G Missense 31/51 - 3
12-40704317-A-G c.4402A>G p.K1468E Missense 31/51 - 2
12-40704353-C-T c.4438C>T p.P1480S Missense 31/51 - 1
12-40704354-C-A c.4439C>A p.P1480H Missense 31/51 - 1
12-40704354-C-T c.4439C>T p.P1480L Missense 31/51 - 1
12-40704362-C-A c.4447C>A p.R1483= Synonymous 31/51 - 1
12-40704362-C-T c.4447C>T p.R1483* Nonsense 31/51 - 3
12-40704363-G-A c.4448G>A p.R1483Q Missense 31/51 - 2
12-40704383-G-A c.4468G>A p.A1490T Missense 31/51 - 2
12-40704386-AC-GA c.4471_4472delinsGA p.T1491D Missense 31/51 - 4
12-40704386-A-G c.4471A>G p.T1491A Missense 31/51 - 2
12-40704414-T-G c.4499T>G p.L1500R Missense 31/51 - 1
12-40704416-C-T c.4501C>T p.R1501W Missense 31/51 - 1
12-40704422-AC-GA c.4507_4508delinsGA p.T1503D Missense 31/51 - 3
12-40704422-A-G c.4507A>G p.T1503A Missense 31/51 - 2
12-40704431-A-T c.4516A>T p.N1506Y Missense 31/51 - 1
12-40704454-A-G c.4536+3A>G - IntronicSNV - 31/50 1
12-40706531-G-A c.4537-1243G>A - IntronicSNV - 31/50 1
12-40707278-C-T c.4537-496C>T - IntronicSNV - 31/50 2
12-40707778-G-A c.4541G>A p.R1514Q Missense 32/51 - 20
12-40707778-G-C c.4541G>C p.R1514P Missense 32/51 - 2
12-40707818-T-C c.4581T>C p.Y1527= Synonymous 32/51 - 1
12-40707861-C-T c.4624C>T p.P1542S Missense 32/51 - 10
12-40707891-C-T c.4654C>T p.R1552* Nonsense 32/51 - 1
12-40707903-C-A c.4666C>A p.L1556I Missense 32/51 - 1
12-40707909-A-G c.4672A>G p.R1558G Missense 32/51 - 1
12-40708892-T-C c.4739-122T>C - IntronicSNV - 32/50 1
12-40709068-T-A c.4793T>A p.V1598E Missense 33/51 - 1
12-40709102-G-C c.4827G>C p.Q1609H Missense 33/51 - 1
12-40709102-G-T c.4827G>T p.Q1609H Missense 33/51 - 1
12-40709413-T-A c.4827+311T>A - IntronicSNV - 33/50 1
12-40711094-A-T c.4827+1992A>T - IntronicSNV - 33/50 1
12-40711634-C-T c.4828-2156C>T - IntronicSNV - 33/50 1
12-40713219-C-T c.4828-571C>T - IntronicSNV - 33/50 1
12-40713759-T-C c.4828-31T>C - IntronicSNV - 33/50 6
12-40713800-T-C c.4838T>C p.V1613A Missense 34/51 - 2
12-40713807-G-A c.4845G>A p.V1615= Synonymous 34/51 - 1
12-40713818-C-T c.4856C>T p.P1619L Missense 34/51 - 1
12-40713819-A-AT c.4857_4858insT p.K1620* Nonsense 34/51 - 1
12-40713821-A-G c.4859A>G p.K1620R Missense 34/51 - 1
12-40713824-A-G c.4862A>G p.H1621R Missense 34/51 - 1
12-40713825-C-A c.4863C>A p.H1621Q Missense 34/51 - 1
12-40713826-C-A c.4864C>A p.P1622T Missense 34/51 - 1
12-40713827-C-T c.4865C>T p.P1622L Missense 34/51 - 1
12-40713828-T-A c.4866T>A p.P1622= Synonymous 34/51 - 1
12-40713828-T-C c.4866T>C p.P1622= Synonymous 34/51 - 1
12-40713828-T-G c.4866T>G p.P1622= Synonymous 34/51 - 1
12-40713829-A-G c.4867A>G p.K1623E Missense 34/51 - 1
12-40713834-C-A c.4872C>A p.G1624= Synonymous 34/51 - 12
12-40713834-C-G c.4872C>G p.G1624= Synonymous 34/51 - 10
12-40713834-C-T c.4872C>T p.G1624= Synonymous 34/51 - 5
12-40713838-A-G c.4876A>G p.I1626V Missense 34/51 - 1
12-40713841-TCG-GAC c.4879_4881delinsGAC p.S1627D Missense 34/51 - 1
12-40713841-T-G c.4879T>G p.S1627A Missense 34/51 - 1
12-40713842-C-T c.4880C>T p.S1627L Missense 34/51 - 1
12-40713845-G-A c.4883G>A p.R1628H Missense 34/51 - 6
12-40713845-G-C c.4883G>C p.R1628P Missense 34/51 - 160
12-40713845-G-T c.4883G>T p.R1628L Missense 34/51 - 6
12-40713856-G-C c.4894G>C p.E1632Q Missense 34/51 - 1
12-40713872-A-T c.4910A>T p.K1637I Missense 34/51 - 1
12-40713873-A-G c.4911A>G p.K1637= Synonymous 34/51 - 20
12-40713876-A-AT c.4914_4915insT p.R1639* Nonsense 34/51 - 1
12-40713899-T-C c.4937T>C p.M1646T Missense 34/51 - 26
12-40713901-T-A c.4939T>A p.S1647T Missense 34/51 - 43
12-40713905-A-C c.4943A>C p.Q1648P Missense 34/51 - 1
12-40713905-A-T c.4943A>T p.Q1648L Missense 34/51 - 1
12-40713908-A-C c.4946A>C p.Y1649S Missense 34/51 - 1
12-40713921-A-G c.4959A>G p.L1653= Synonymous 34/51 - 1
12-40713964-CT-TA c.5002_5003delinsTA p.L1668* Nonsense 34/51 - 1
12-40713965-T-A c.5003T>A p.L1668Q Missense 34/51 - 1
12-40714009-A-G c.5015+32A>G - IntronicSNV - 34/50 4
12-40714864-C-A c.5044C>A p.L1682I Missense 35/51 - 1
12-40714885-G-T c.5065G>T p.E1689* Nonsense 35/51 - 1
12-40714892-T-C c.5072T>C p.I1691T Missense 35/51 - 1
12-40714897-C-T c.5077C>T p.R1693* Nonsense 35/51 - 1
12-40714898-G-A c.5078G>A p.R1693Q Missense 35/51 - 1
12-40714915-TA-GG c.5095_5096delinsGG p.Y1699G Missense 35/51 - 1
12-40714916-A-G c.5096A>G p.Y1699C Missense 35/51 - 388
12-40714922-C-T c.5102C>T p.P1701L Missense 35/51 - 1
12-40714928-G-C c.5108G>C p.G1703A Missense 35/51 - 1
12-40714940-G-A c.5120G>A p.R1707K Missense 35/51 - 2
12-40714983-A-C c.5163A>C p.S1721= Synonymous 35/51 - 2
12-40714983-A-G c.5163A>G p.S1721= Synonymous 35/51 - 1
12-40714983-A-T c.5163A>T p.S1721= Synonymous 35/51 - 1
12-40715013-T-A c.5170+23T>A - IntronicSNV - 35/50 1
12-40715302-G-A c.5170+312G>A - IntronicSNV - 35/50 2
12-40715839-C-A c.5173C>A p.R1725= Synonymous 36/51 - 1
12-40715839-C-G c.5173C>G p.R1725G Missense 36/51 - 1
12-40715839-C-T c.5173C>T p.R1725* Nonsense 36/51 - 3
12-40715849-G-A c.5183G>A p.R1728H Missense 36/51 - 7
12-40715849-G-T c.5183G>T p.R1728L Missense 36/51 - 4
12-40715852-C-T c.5186C>T p.P1729L Missense 36/51 - 1
12-40715857-A-T c.5191A>T p.R1731* Nonsense 36/51 - 1
12-40715870-G-A c.5204G>A p.R1735Q Missense 36/51 - 2
12-40715914-G-C c.5248G>C p.V1750L Missense 36/51 - 2
12-40715914-G-T c.5248G>T p.V1750L Missense 36/51 - 2
12-40715918-G-A c.5252G>A p.G1751E Missense 36/51 - 1
12-40715921-C-G c.5255C>G p.S1752C Missense 36/51 - 1
12-40715947-A-C c.5281A>C p.S1761R Missense 36/51 - 6
12-40715949-T-A c.5283T>A p.S1761R Missense 36/51 - 5
12-40715949-T-G c.5283T>G p.S1761R Missense 36/51 - 5
12-40716015-C-A c.5317+32C>A - IntronicSNV - 36/50 2
12-40716015-C-T c.5317+32C>T - IntronicSNV - 36/50 2
12-40716042-A-C c.5317+59A>C - IntronicSNV - 36/50 1
12-40716141-G-T c.5338G>T p.V1780F Missense 37/51 - 1
12-40716188-G-C c.5385G>C p.L1795F Missense 37/51 - 5
12-40716188-G-T c.5385G>T p.L1795F Missense 37/51 - 9
12-40716216-GA-G c.5416del p.T1806Lfs*3 Frameshift 37/51 - 1
12-40716220-C-T c.5417C>T p.T1806I Missense 37/51 - 1
12-40716256-A-T c.5453A>T p.D1818V Missense 37/51 - 1
12-40716260-T-A c.5457T>A p.G1819= Synonymous 37/51 - 1
12-40716260-T-C c.5457T>C p.G1819= Synonymous 37/51 - 12
12-40716260-T-G c.5457T>G p.G1819= Synonymous 37/51 - 1
12-40716306-G-T c.5503G>T p.E1835* Nonsense 37/51 - 1
12-40716434-A-G c.5509+122A>G - IntronicSNV - 37/50 1
12-40716474-T-C c.5509+162T>C - IntronicSNV - 37/50 1
12-40716694-A-C c.5510-268A>C - IntronicSNV - 37/50 1
12-40716694-A-G c.5510-268A>G - IntronicSNV - 37/50 1
12-40717057-A-G c.5605A>G p.M1869V Missense 38/51 - 1
12-40717057-AT-CA c.5605_5606delinsCA p.M1869Q Missense 38/51 - 1
12-40717058-T-C c.5606T>C p.M1869T Missense 38/51 - 10
12-40717058-T-G c.5606T>G p.M1869R Missense 38/51 - 1
12-40717062-G-C c.5610G>C p.L1870F Missense 38/51 - 2
12-40717062-G-T c.5610G>T p.L1870F Missense 38/51 - 2
12-40717115-C-T c.5656+7C>T - IntronicSNV - 38/50 1
12-40717143-G-A c.5656+35G>A - IntronicSNV - 38/50 2
12-40717143-G-C c.5656+35G>C - IntronicSNV - 38/50 1
12-40718775-T-C c.5656+1667T>C - IntronicSNV - 38/50 1
12-40718883-T-C c.5656+1775T>C - IntronicSNV - 38/50 1
12-40719339-G-T c.5656+2231G>T - IntronicSNV - 38/50 1
12-40719500-A-C c.5656+2392A>C - IntronicSNV - 38/50 2
12-40719500-A-G c.5656+2392A>G - IntronicSNV - 38/50 2
12-40719500-A-T c.5656+2392A>T - IntronicSNV - 38/50 2
12-40722164-G-A c.5659G>A p.D1887N Missense 39/51 - 1
12-40722165-A-G c.5660A>G p.D1887G Missense 39/51 - 1
12-40722182-G-T c.5677G>T p.V1893F Missense 39/51 - 1
12-40722188-C-T c.5683C>T p.R1895* Nonsense 39/51 - 2
12-40722192-C-G c.5687C>G p.A1896G Missense 39/51 - 1
12-40722197-TATGA-T c.5694_5697del p.Y1898* Frameshift 39/51 - 1
12-40722215-GC-TT c.5710_5711delinsTT p.A1904F Missense 39/51 - 1
12-40722219-T-C c.5714T>C p.V1905A Missense 39/51 - 1
12-40722221-AA-GC c.5716_5717delinsGC p.K1906A Missense 39/51 - 7
12-40722222-A-G c.5717A>G p.K1906R Missense 39/51 - 3
12-40722222-A-T c.5717A>T p.K1906M Missense 39/51 - 66
12-40722223-G-C c.5718G>C p.K1906N Missense 39/51 - 1
12-40722223-G-T c.5718G>T p.K1906N Missense 39/51 - 1
12-40722227-T-C c.5722T>C p.F1908L Missense 39/51 - 1
12-40722229-T-A c.5724T>A p.F1908L Missense 39/51 - 1
12-40722229-T-G c.5724T>G p.F1908L Missense 39/51 - 1
12-40722231-A-G c.5726A>G p.N1909S Missense 39/51 - 1
12-40722251-C-T c.5746C>T p.L1916= Synonymous 39/51 - 1
12-40722253-G-A c.5748G>A p.L1916= Synonymous 39/51 - 1
12-40722253-G-C c.5748G>C p.L1916= Synonymous 39/51 - 1
12-40722253-G-T c.5748G>T p.L1916= Synonymous 39/51 - 1
12-40722257-AG-GC c.5752_5753delinsGC p.R1918A Missense 39/51 - 1
12-40722260-CA-GC c.5755_5756delinsGC p.Q1919A Missense 39/51 - 1
12-40722452-A-G c.5757+190A>G - IntronicSNV - 39/50 1
12-40723171-C-A c.5757+909C>A - IntronicSNV - 39/50 1
12-40723171-C-T c.5757+909C>T - IntronicSNV - 39/50 1
12-40723900-C-A c.5757+1638C>A - IntronicSNV - 39/50 2
12-40723900-C-T c.5757+1638C>T - IntronicSNV - 39/50 2
12-40724030-C-T c.5757+1768C>T - IntronicSNV - 39/50 1
12-40724581-G-A c.5757+2319G>A - IntronicSNV - 39/50 2
12-40724960-G-A c.5757+2698G>A - IntronicSNV - 39/50 5
12-40724960-G-T c.5757+2698G>T - IntronicSNV - 39/50 5
12-40725928-A-G c.5758-2841A>G - IntronicSNV - 39/50 2
12-40726567-C-G c.5758-2202C>G - IntronicSNV - 39/50 1
12-40727779-T-G c.5758-990T>G - IntronicSNV - 39/50 2
12-40728626-A-T c.5758-143A>T - IntronicSNV - 39/50 1
12-40728781-C-T c.5770C>T p.L1924F Missense 40/51 - 1
12-40728800-C-G c.5789C>G p.P1930R Missense 40/51 - 1
12-40728816-G-C c.5805G>C p.L1935F Missense 40/51 - 1
12-40728816-G-T c.5805G>T p.L1935F Missense 40/51 - 1
12-40728833-G-A c.5822G>A p.R1941H Missense 40/51 - 8
12-40728837-CC-TT c.5826_5827delinsTT p.R1943W Missense 40/51 - 1
12-40728868-G-C c.5857G>C p.G1953R Missense 40/51 - 1
12-40728880-C-T c.5869C>T p.R1957C Missense 40/51 - 1
12-40728881-G-A c.5870G>A p.R1957H Missense 40/51 - 1
12-40728881-G-T c.5870G>T p.R1957L Missense 40/51 - 1
12-40728902-C-T c.5891C>T p.A1964V Missense 40/51 - 1
12-40728907-C-A c.5896C>A p.L1966I Missense 40/51 - 1
12-40728963-A-C c.5948+4A>C - IntronicSNV - 40/50 1
12-40729007-C-T c.5948+48C>T - IntronicSNV - 40/50 2
12-40730463-C-G c.5948+1504C>G - IntronicSNV - 40/50 3
12-40730463-C-T c.5948+1504C>T - IntronicSNV - 40/50 3
12-40731606-G-A c.5949-2490G>A - IntronicSNV - 40/50 1
12-40731961-C-T c.5949-2135C>T - IntronicSNV - 40/50 1
12-40732032-C-T c.5949-2064C>T - IntronicSNV - 40/50 1
12-40732394-T-C c.5949-1702T>C - IntronicSNV - 40/50 3
12-40732730-C-G c.5949-1366C>G - IntronicSNV - 40/50 1
12-40732900-C-A c.5949-1196C>A - IntronicSNV - 40/50 3
12-40734122-A-T c.5975A>T p.Y1992F Missense 41/51 - 1
12-40734124-C-T c.5977C>T p.R1993* Nonsense 41/51 - 2
12-40734127-G-A c.5980G>A p.D1994N Missense 41/51 - 12
12-40734127-GA-AG c.5980_5981delinsAG p.D1994S Missense 41/51 - 11
12-40734127-GAC-AAG c.5980_5982delinsAAG p.D1994K Missense 41/51 - 1
12-40734128-A-C c.5981A>C p.D1994A Missense 41/51 - 83
12-40734163-T-C c.6016T>C p.Y2006H Missense 41/51 - 2
12-40734168-C-A c.6021C>A p.P2007= Synonymous 41/51 - 1
12-40734168-C-G c.6021C>G p.P2007= Synonymous 41/51 - 1
12-40734168-C-T c.6021C>T p.P2007= Synonymous 41/51 - 1
12-40734181-AT-GC c.6034_6035delinsGC p.I2012A Missense 41/51 - 1
12-40734182-T-C c.6035T>C p.I2012T Missense 41/51 - 48
12-40734193-G-A c.6046G>A p.A2016T Missense 41/51 - 42
12-40734197-A-C c.6050A>C p.D2017A Missense 41/51 - 26
12-40734200-A-T c.6053A>T p.Y2018F Missense 41/51 - 6
12-40734201-C-T c.6054C>T p.Y2018= Synonymous 41/51 - 1
12-40734202-G-A c.6055G>A p.G2019S Missense 41/51 - 2236
12-40734202-GGC-AAG c.6055_6057delinsAAG p.G2019K Missense 41/51 - 1
12-40734203-G-A c.6056G>A p.G2019D Missense 41/51 - 1
12-40734203-G-C c.6056G>C p.G2019A Missense 41/51 - 2
12-40734204-C-A c.6057C>A p.G2019= Synonymous 41/51 - 1
12-40734204-C-G c.6057C>G p.G2019= Synonymous 41/51 - 1
12-40734204-C-T c.6057C>T p.G2019= Synonymous 41/51 - 1
12-40734205-A-C c.6058A>C p.I2020L Missense 41/51 - 3
12-40734206-T-C c.6059T>C p.I2020T Missense 41/51 - 401
12-40734219-C-A c.6072C>A p.C2024* Nonsense 41/51 - 1
12-40734234-A-G c.6087A>G p.I2029M Missense 41/51 - 1
12-40734233-TA-T c.6091del p.T2031Hfs*37 Frameshift 41/51 - 1
12-40734238-ACA-GAC c.6091_6093delinsGAC p.T2031D Missense 41/51 - 1
12-40734238-AC-GA c.6091_6092delinsGA p.T2031E Missense 41/51 - 1
12-40734238-A-G c.6091A>G p.T2031A Missense 41/51 - 3
12-40734238-A-T c.6091A>T p.T2031S Missense 41/51 - 12
12-40734241-TCA-GAC c.6094_6096delinsGAC p.S2032D Missense 41/51 - 2
12-40734241-TC-GA c.6094_6095inv p.S2032E Missense 41/51 - 3
12-40734241-T-G c.6094T>G p.S2032A Missense 41/51 - 5
12-40734250-ACA-GAC c.6103_6105delinsGAC p.T2035D Missense 41/51 - 1
12-40734250-AC-GA c.6103_6104delinsGA p.T2035E Missense 41/51 - 2
12-40734250-A-G c.6103A>G p.T2035A Missense 41/51 - 7
12-40734583-T-C c.6109+327T>C - IntronicSNV - 41/50 1
12-40735664-A-G c.6109+1408A>G - IntronicSNV - 41/50 1
12-40735939-G-A c.6109+1683G>A - IntronicSNV - 41/50 1
12-40737183-G-A c.6109+2927G>A - IntronicSNV - 41/50 1
12-40737183-G-T c.6109+2927G>T - IntronicSNV - 41/50 1
12-40738008-C-T c.6110-2547C>T - IntronicSNV - 41/50 1
12-40738303-G-A c.6110-2252G>A - IntronicSNV - 41/50 1
12-40739493-G-A c.6110-1062G>A - IntronicSNV - 41/50 1
12-40739493-G-T c.6110-1062G>T - IntronicSNV - 41/50 1
12-40740223-T-C c.6110-332T>C - IntronicSNV - 41/50 2
12-40740365-G-T c.6110-190G>T - IntronicSNV - 41/50 1
12-40740624-G-T c.6179G>T p.G2060V Missense 42/51 - 1
12-40740628-ACTACT-A c.6187_6191del p.L2063* Frameshift 42/51 - 1
12-40740632-CTC-TAA c.6187_6189delinsTAA p.L2063* Nonsense 42/51 - 2
12-40740662-A-G c.6217A>G p.I2073V Missense 42/51 - 1
12-40740663-T-A c.6218T>A p.I2073K Missense 42/51 - 1
12-40740665-G-A c.6220G>A p.V2074I Missense 42/51 - 1
12-40740686-A-G c.6241A>G p.N2081D Missense 42/51 - 46
12-40740686-A-T c.6241A>T p.N2081Y Missense 42/51 - 4
12-40741678-T-C c.6281-533T>C - IntronicSNV - 42/50 1
12-40742204-G-GT c.6281-3dup - IntronicInsertion - 42/50 1
12-40742233-T-A c.6303T>A p.C2101* Nonsense 43/51 - 1
12-40742254-G-A c.6324G>A p.E2108= Synonymous 43/51 - 13
12-40742286-C-T c.6356C>T p.P2119L Missense 43/51 - 1
12-40742288-C-T c.6358C>T p.Q2120* Nonsense 43/51 - 1
12-40742363-G-A c.6381+52G>A - IntronicSNV - 43/50 3
12-40742363-G-C c.6381+52G>C - IntronicSNV - 43/50 3
12-40744086-A-T c.6382-1255A>T - IntronicSNV - 43/50 1
12-40744775-A-C c.6382-566A>C - IntronicSNV - 43/50 2
12-40744808-G-A c.6382-533G>A - IntronicSNV - 43/50 1
12-40745181-T-C c.6382-160T>C - IntronicSNV - 43/50 3
12-40745381-C-T c.6422C>T p.T2141M Missense 44/51 - 3
12-40745387-G-A c.6428G>A p.R2143H Missense 44/51 - 3
12-40745407-G-A c.6448G>A p.V2150I Missense 44/51 - 1
12-40745458-A-T c.6499A>T p.I2167F Missense 44/51 - 1
12-40745469-C-A c.6510C>A p.G2170= Synonymous 44/51 - 1
12-40745482-G-A c.6523G>A p.D2175N Missense 44/51 - 1
12-40745482-G-C c.6523G>C p.D2175H Missense 44/51 - 1
12-40745525-A-G c.6566A>G p.Y2189C Missense 44/51 - 7
12-40745533-G-C c.6574G>C p.E2192Q Missense 44/51 - 1
12-40746849-C-A c.6577-1252C>A - IntronicSNV - 44/50 1
12-40746849-C-G c.6577-1252C>G - IntronicSNV - 44/50 1
12-40746849-C-T c.6577-1252C>T - IntronicSNV - 44/50 1
12-40747059-C-T c.6577-1042C>T - IntronicSNV - 44/50 1
12-40748132-CCTTGGTGCATCTT-C c.6610_6622del p.V2205Lfs*30 Frameshift 45/51 - 1
12-40748147-C-T c.6623C>T p.P2208L Missense 45/51 - 1
12-40748174-C-G c.6650C>G p.S2217C Missense 45/51 - 1
12-40748190-T-A c.6666T>A p.G2222= Synonymous 45/51 - 1
12-40748194-C-G c.6670C>G p.L2224V Missense 45/51 - 1
12-40748219-G-A c.6695G>A p.G2232E Missense 45/51 - 1
12-40748257-G-C c.6733G>C p.V2245L Missense 45/51 - 1
12-40748273-G-T c.6749G>T p.C2250F Missense 45/51 - 1
12-40748284-T-C c.6760T>C p.S2254P Missense 45/51 - 1
12-40748285-C-T c.6761C>T p.S2254F Missense 45/51 - 1
12-40748395-G-A c.6770+101G>A - IntronicSNV - 45/50 1
12-40748395-G-T c.6770+101G>T - IntronicSNV - 45/50 1
12-40749928-A-T c.6782A>T p.N2261I Missense 46/51 - 1
12-40749945-A-T c.6799A>T p.T2267S Missense 46/51 - 1
12-40750471-G-A c.6843+482G>A - IntronicSNV - 46/50 3
12-40751815-C-T c.6844-1247C>T - IntronicSNV - 46/50 1
12-40753068-G-T c.6850G>T p.G2284* Nonsense 47/51 - 1
12-40753098-G-A c.6880G>A p.G2294R Missense 47/51 - 2
12-40753098-G-C c.6880G>C p.G2294R Missense 47/51 - 2
12-40753107-A-T c.6889A>T p.S2297C Missense 47/51 - 1
12-40753140-A-G c.6922A>G p.N2308D Missense 47/51 - 1
12-40753146-A-G c.6928A>G p.T2310A Missense 47/51 - 1
12-40753147-C-T c.6929C>T p.T2310M Missense 47/51 - 4
12-40753153-G-C c.6935G>C p.R2312T Missense 47/51 - 1
12-40753156-A-G c.6938A>G p.N2313S Missense 47/51 - 1
12-40753190-C-A c.6972C>A p.F2324L Missense 47/51 - 1
12-40754102-A-G c.7028+856A>G - IntronicSNV - 47/50 1
12-40754308-T-C c.7028+1062T>C - IntronicSNV - 47/50 1
12-40754555-C-T c.7028+1309C>T - IntronicSNV - 47/50 1
12-40756207-T-C c.7029-997T>C - IntronicSNV - 47/50 1
12-40756472-C-A c.7029-732C>A - IntronicSNV - 47/50 4
12-40756472-C-T c.7029-732C>T - IntronicSNV - 47/50 4
12-40757205-TT-GC c.7030_7031delinsGC p.F2344A Missense 48/51 - 1
12-40757208-TC-GA c.7033_7034inv p.S2345D Missense 48/51 - 1
12-40757211-TA-GC c.7036_7037delinsGC p.Y2346A Missense 48/51 - 1
12-40757224-G-T c.7049G>T p.S2350I Missense 48/51 - 2
12-40757241-A-AGT c.7066_7067insGT p.T2356Sfs*5 Frameshift 48/51 - 1
12-40757241-AC-CT c.7066_7067delinsCT p.T2356L Missense 48/51 - 1
12-40757242-C-T c.7067C>T p.T2356I Missense 48/51 - 8
12-40757317-A-G c.7142A>G p.E2381G Missense 48/51 - 1
12-40757328-G-A c.7153G>A p.G2385R Missense 48/51 - 272
12-40757328-G-C c.7153G>C p.G2385R Missense 48/51 - 62
12-40757329-G-A c.7154G>A p.G2385E Missense 48/51 - 1
12-40757329-G-C c.7154G>C p.G2385A Missense 48/51 - 1
12-40757330-A-G c.7155A>G p.G2385= Synonymous 48/51 - 8
12-40757337-GAC-AAG c.7162_7164delinsAAG p.D2388K Missense 48/51 - 1
12-40757342-C-T c.7167C>T p.C2389= Synonymous 48/51 - 1
12-40757343-G-A c.7168G>A p.V2390M Missense 48/51 - 6
12-40757346-C-G c.7171C>G p.H2391D Missense 48/51 - 1
12-40757355-AG-GA c.7180_7181delinsGA p.R2394E Missense 48/51 - 1
12-40758045-T-C c.7182-599T>C - IntronicSNV - 48/50 2
12-40758045-T-G c.7182-599T>G - IntronicSNV - 48/50 2
12-40758291-G-A c.7182-353G>A - IntronicSNV - 48/50 2
12-40758645-G-A c.7183G>A p.E2395K Missense 49/51 - 2
12-40758645-GA-AG c.7183_7184delinsAG p.E2395R Missense 49/51 - 1
12-40758652-T-C c.7190T>C p.M2397T Missense 49/51 - 44
12-40758669-G-T c.7207G>T p.E2403* Nonsense 49/51 - 1
12-40758684-AT-GA c.7222_7223delinsGA p.M2408E Missense 49/51 - 1
12-40758684-AT-GC c.7222_7223delinsGC p.M2408A Missense 49/51 - 1
12-40758686-G-A c.7224G>A p.M2408I Missense 49/51 - 1
12-40758687-T-G c.7225T>G p.S2409A Missense 49/51 - 1
12-40758735-C-A c.7273C>A p.L2425I Missense 49/51 - 1
12-40758741-A-C c.7279A>C p.I2427L Missense 49/51 - 1
12-40758741-A-T c.7279A>T p.I2427L Missense 49/51 - 1
12-40758758-C-A c.7296C>A p.G2432= Synonymous 49/51 - 1
12-40758758-C-G c.7296C>G p.G2432= Synonymous 49/51 - 1
12-40758758-C-T c.7296C>T p.G2432= Synonymous 49/51 - 1
12-40758777-C-A c.7315C>A p.L2439I Missense 49/51 - 2
12-40758823-C-A c.7361C>A p.S2454* Nonsense 49/51 - 1
12-40758823-C-T c.7361C>T p.S2454L Missense 49/51 - 1
12-40758844-C-T c.7382C>T p.A2461V Missense 49/51 - 1
12-40759848-T-A c.7391-960T>A - IntronicSNV - 49/50 1
12-40760631-A-G c.7391-177A>G - IntronicSNV - 49/50 1
12-40760764-T-C c.7391-44T>C - IntronicSNV - 49/50 3
12-40760814-T-A c.7397T>A p.L2466H Missense 50/51 - 5
12-40760847-G-A c.7430G>A p.R2477Q Missense 50/51 - 1
12-40760852-A-G c.7435A>G p.N2479D Missense 50/51 - 1
12-40761315-A-T c.7463-131A>T - IntronicSNV - 50/50 1
12-40761358-A-G c.7463-88A>G - IntronicSNV - 50/50 1
12-40761358-A-T c.7463-88A>T - IntronicSNV - 50/50 1
12-40761466-G-A c.7483G>A p.V2495I Missense 51/51 - 1
12-40761479-A-G c.7496A>G p.N2499S Missense 51/51 - 1
12-40761490-G-A c.7507G>A p.E2503K Missense 51/51 - 1
12-40761538-G-A c.7555G>A p.E2519K Missense 51/51 - 1
12-40761550-C-T c.7567C>T p.R2523* Nonsense 51/51 - 1
12-40761553-ACA-TGT c.7570_7572inv p.T2524C Missense 51/51 - 1
12-40761663-T-C c.*96T>C - 3-UTRSNV 51/51 - 1
12-40761931-A-C c.*364A>C - 3-UTRSNV 51/51 - 2
12-40761951-C-T c.*384C>T - 3-UTRSNV 51/51 - 1