RYR1 ryanodine receptor 1

Annotation transcript: NM_000540.3

1479 unique variant annotations were identified in 568 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
19-38924475-T-A c.6T>A p.G2= Synonymous 1/106 - 2
19-38924475-T-C c.6T>C p.G2= Synonymous 1/106 - 2
19-38924475-T-G c.6T>G p.G2= Synonymous 1/106 - 2
19-38924497-G-A c.28G>A p.V10I Missense 1/106 - 1
19-38924504-TC-AA c.35_36delinsAA p.F12* Nonsense 1/106 - 1
19-38924507-T-G c.38T>G p.L13R Missense 1/106 - 1
19-38924510-G-A c.41G>A p.R14Q Missense 1/106 - 1
19-38924511-G-A c.42G>A p.R14= Synonymous 1/106 - 1
19-38924512-A-G c.43A>G p.T15A Missense 1/106 - 2
19-38931389-GA-G c.50del p.D17Vfs*101 Frameshift 2/106 - 1
19-38931390-T-C c.51T>C p.D17= Synonymous 2/106 - 1
19-38931391-G-A c.52G>A p.E18K Missense 2/106 - 1
19-38931400-CTG-TTT c.61_63delinsTTT p.L21F Missense 2/106 - 1
19-38931408-C-A c.69C>A p.C23* Nonsense 2/106 - 1
19-38931413-C-A c.74C>A p.A25D Missense 2/106 - 2
19-38931428-A-T c.89A>T p.E30V Missense 2/106 - 1
19-38931432-AG-A c.93del p.Q31Hfs*87 Frameshift 2/106 - 1
19-38931433-C-T c.94C>T p.L32F Missense 2/106 - 1
19-38931442-T-C c.103T>C p.C35R Missense 2/106 - 14
19-38931449-C-A c.110C>A p.A37D Missense 2/106 - 1
19-38931451-GC-TG c.112_113delinsTG p.A38C Missense 2/106 - 1
19-38931452-C-A c.113C>A p.A38D Missense 2/106 - 1
19-38931452-CC-AG c.113_114delinsAG p.A38E Missense 2/106 - 1
19-38931457-GGC-TGA c.118_120delinsTGA p.G40* Nonsense 2/106 - 1
19-38931458-G-C c.119G>C p.G40A Missense 2/106 - 1
19-38931461-T-C c.122T>C p.F41S Missense 2/106 - 2
19-38931469-C-T c.130C>T p.R44C Missense 2/106 - 8
19-38931476-G-A c.137G>A p.C46Y Missense 2/106 - 1
19-38931476-G-T c.137G>T p.C46F Missense 2/106 - 1
19-38931477-C-A c.138C>A p.C46* Nonsense 2/106 - 1
19-38931490-ACT-TAA c.151_153delinsTAA p.T51* Nonsense 2/106 - 1
19-38931493-AG-GC c.154_155delinsGC p.S52A Missense 2/106 - 1
19-38931497-A-G c.158A>G p.N53S Missense 2/106 - 1
19-38931497-A-T c.158A>T p.N53I Missense 2/106 - 1
19-38931499-G-A c.160G>A p.A54T Missense 2/106 - 1
19-38931502-C-T c.163C>T p.Q55* Nonsense 2/106 - 1
19-38931509-G-A c.165+5G>A - IntronicSNV - 2/105 1
19-38933001-G-A c.178G>A p.D60N Missense 3/106 - 1
19-38933001-G-T c.178G>T p.D60Y Missense 3/106 - 1
19-38933002-A-G c.179A>G p.D60G Missense 3/106 - 1
19-38933006-G-C c.183G>C p.L61= Synonymous 3/106 - 1
19-38933010-ATC-TAA c.187_189delinsTAA p.I63* Nonsense 3/106 - 1
19-38933015-T-A c.192T>A p.C64* Nonsense 3/106 - 1
19-38933018-C-A c.195C>A p.C65* Nonsense 3/106 - 1
19-38933031-C-T c.208C>T p.Q70* Nonsense 3/106 - 1
19-38933035-C-A c.212C>A p.S71Y Missense 3/106 - 4
19-38933043-G-T c.220G>T p.V74L Missense 3/106 - 1
19-38933046-C-T c.223C>T p.R75* Nonsense 3/106 - 1
19-38933047-G-A c.224G>A p.R75Q Missense 3/106 - 2
19-38933062-T-C c.239T>C p.M80T Missense 3/106 - 1
19-38933067-GC-TG c.244_245delinsTG p.A82C Missense 3/106 - 1
19-38933074-C-T c.251C>T p.T84M Missense 3/106 - 5
19-38933088-G-A c.265G>A p.V89M Missense 3/106 - 2
19-38934209-C-T c.282C>T p.G94= Synonymous 4/106 - 1
19-38934210-G-A c.283G>A p.G95R Missense 4/106 - 1
19-38934234-G-C c.307G>C p.G103R Missense 4/106 - 1
19-38934236-GCCAT-G c.309_312del p.H104Pfs*13 Frameshift 4/106 - 1
19-38934252-C-T c.325C>T p.R109W Missense 4/106 - 15
19-38934255-C-T c.328C>T p.H110Y Missense 4/106 - 1
19-38934262-A-G c.335A>G p.H112R Missense 4/106 - 1
19-38934268-G-A c.341G>A p.R114H Missense 4/106 - 1
19-38934373-AC-GG c.361_362delinsGG p.T121G Missense 5/106 - 1
19-38934373-AC-A c.363del p.T122Pfs*5 Frameshift 5/106 - 1
19-38934376-A-C c.364A>C p.T122P Missense 5/106 - 1
19-38934428-A-G c.416A>G p.D139G Missense 5/106 - 1
19-38934434-CA-TG c.422_423inv p.T141M Missense 5/106 - 1
19-38934788-G-A c.425-1G>A - IntronicSNV - 5/105 1
19-38934789-GA-AC c.425_426delinsAC p.G142D Missense 6/106 - 3
19-38934791-G-T c.427G>T p.E143* Nonsense 6/106 - 1
19-38934797-TG-GC c.433_434delinsGC p.C145A Missense 6/106 - 1
19-38934816-C-T c.452C>T p.P151L Missense 6/106 - 1
19-38934819-C-A c.455C>A p.A152D Missense 6/106 - 1
19-38934827-C-A c.463C>A p.Q155K Missense 6/106 - 1
19-38934828-A-C c.464A>C p.Q155P Missense 6/106 - 1
19-38934831-G-A c.467G>A p.R156K Missense 6/106 - 2
19-38934835-TGAA-T c.473_475del p.E158del InFrameDeletion 6/106 - 1
19-38934843-A-G c.479A>G p.E160G Missense 6/106 - 1
19-38934847-G-A c.483G>A p.K161= Synonymous 6/106 - 1
19-38934848-G-A c.484G>A p.V162I Missense 6/106 - 1
19-38934851-C-A c.487C>A p.R163S Missense 6/106 - 1
19-38934851-C-T c.487C>T p.R163C Missense 6/106 - 64
19-38934852-G-A c.488G>A p.R163H Missense 6/106 - 3
19-38934852-G-T c.488G>T p.R163L Missense 6/106 - 10
19-38934854-G-A c.490G>A p.V164I Missense 6/106 - 1
19-38934854-G-T c.490G>T p.V164F Missense 6/106 - 1
19-38934861-GAT-G c.497_498del p.D166Gfs*25 Frameshift 6/106 - 1
19-38934863-G-A c.499G>A p.D167N Missense 6/106 - 1
19-38934864-A-G c.500A>G p.D167G Missense 6/106 - 1
19-38934884-T-G c.520T>G p.S174A Missense 6/106 - 1
19-38934893-C-T c.529C>T p.R177C Missense 6/106 - 4
19-38934895-C-A c.531C>A p.R177= Synonymous 6/106 - 1
19-38934895-C-G c.531C>G p.R177= Synonymous 6/106 - 1
19-38934895-C-T c.531C>T p.R177= Synonymous 6/106 - 1
19-38935230-T-G c.544T>G p.S182A Missense 7/106 - 1
19-38935236-G-A c.550G>A p.A184T Missense 7/106 - 2
19-38935236-G-T c.550G>T p.A184S Missense 7/106 - 1
19-38935255-T-A c.569T>A p.V190D Missense 7/106 - 1
19-38935255-T-C c.569T>C p.V190A Missense 7/106 - 1
19-38935260-G-C c.574G>C p.A192P Missense 7/106 - 1
19-38935265-C-A c.579C>A p.S193= Synonymous 7/106 - 1
19-38935265-C-G c.579C>G p.S193= Synonymous 7/106 - 1
19-38935265-C-T c.579C>T p.S193= Synonymous 7/106 - 1
19-38935278-C-T c.592C>T p.L198= Synonymous 7/106 - 1
19-38935280-A-C c.594A>C p.L198= Synonymous 7/106 - 1
19-38935280-A-G c.594A>G p.L198= Synonymous 7/106 - 5
19-38935280-A-T c.594A>T p.L198= Synonymous 7/106 - 1
19-38935282-G-T c.596G>T p.W199L Missense 7/106 - 1
19-38935287-AT-TA c.601_602delinsTA p.M201* Nonsense 7/106 - 1
19-38935300-G-C c.614G>C p.C205S Missense 7/106 - 1
19-38935303-C-A c.617C>A p.S206Y Missense 7/106 - 1
19-38935305-C-T c.619C>T p.R207C Missense 7/106 - 1
19-38935306-GC-AA c.620_621delinsAA p.R207Q Missense 7/106 - 1
19-38935311-G-A c.625G>A p.E209K Missense 7/106 - 1
19-38935318-G-A c.631+1G>A - IntronicSNV - 7/105 1
19-38937121-C-T c.641C>T p.T214M Missense 8/106 - 5
19-38937124-G-A c.644G>A p.G215E Missense 8/106 - 1
19-38937127-GT-AG c.647_648delinsAG p.G216E Missense 8/106 - 1
19-38937132-G-A c.652G>A p.V218I Missense 8/106 - 1
19-38937138-C-T c.658C>T p.R220C Missense 8/106 - 3
19-38937139-G-A c.659G>A p.R220H Missense 8/106 - 1
19-38937141-C-T c.661C>T p.L221F Missense 8/106 - 1
19-38937141-CTC-AAG c.661_663delinsAAG p.L221K Missense 8/106 - 1
19-38937157-T-A c.677T>A p.M226K Missense 8/106 - 2
19-38937160-A-T c.680A>T p.D227V Missense 8/106 - 1
19-38937200-G-T c.720G>T p.Q240H Missense 8/106 - 1
19-38937336-T-C c.728T>C p.L243P Missense 9/106 - 1
19-38937338-G-A c.730G>A p.V244I Missense 9/106 - 1
19-38937340-TC-T c.732del p.Y245Tfs*20 Frameshift 9/106 - 1
19-38937345-A-G c.737A>G p.Y246C Missense 9/106 - 1
19-38937347-G-A c.739G>A p.E247K Missense 9/106 - 1
19-38937350-G-A c.742G>A p.G248R Missense 9/106 - 11
19-38937350-G-C c.742G>C p.G248R Missense 9/106 - 12
19-38937350-G-T c.742G>T p.G248W Missense 9/106 - 3
19-38937353-G-A c.745G>A p.G249R Missense 9/106 - 3
19-38937353-G-C c.745G>C p.G249R Missense 9/106 - 3
19-38937373-C-A c.765C>A p.A255= Synonymous 9/106 - 1
19-38937375-G-A c.767G>A p.R256H Missense 9/106 - 1
19-38937392-G-C c.784G>C p.E262Q Missense 9/106 - 1
19-38937392-G-T c.784G>T p.E262* Nonsense 9/106 - 1
19-38937401-A-G c.793A>G p.R265G Missense 9/106 - 1
19-38937405-T-C c.797T>C p.I266T Missense 9/106 - 1
19-38938997-G-A c.803G>A p.W268* Nonsense 10/106 - 1
19-38939006-G-A c.812G>A p.S271N Missense 10/106 - 1
19-38939012-T-C c.818T>C p.L273P Missense 10/106 - 1
19-38939014-C-T c.820C>T p.R274C Missense 10/106 - 1
19-38939015-G-A c.821G>A p.R274H Missense 10/106 - 4
19-38939015-G-C c.821G>C p.R274P Missense 10/106 - 2
19-38939015-GC-AA c.821_822delinsAA p.R274Q Missense 10/106 - 1
19-38939015-G-T c.821G>T p.R274L Missense 10/106 - 2
19-38939032-C-T c.838C>T p.R280* Nonsense 10/106 - 3
19-38939042-A-G c.848A>G p.H283R Missense 10/106 - 3
19-38939056-GCA-G c.862_863del p.Q288Vfs*14 Frameshift 10/106 - 1
19-38939060-A-G c.866A>G p.Y289C Missense 10/106 - 1
19-38939066-C-T c.872C>T p.A291V Missense 10/106 - 1
19-38939074-G-A c.880G>A p.E294K Missense 10/106 - 2
19-38939075-A-T c.881A>T p.E294V Missense 10/106 - 1
19-38939083-G-C c.889G>C p.G297R Missense 10/106 - 1
19-38939089-G-C c.895G>C p.V299L Missense 10/106 - 1
19-38939089-G-T c.895G>T p.V299L Missense 10/106 - 1
19-38939110-G-A c.916G>A p.A306T Missense 10/106 - 1
19-38939118-C-A c.924C>A p.T308= Synonymous 10/106 - 1
19-38939127-C-A c.933C>A p.T311= Synonymous 10/106 - 1
19-38939127-C-G c.933C>G p.T311= Synonymous 10/106 - 1
19-38939127-C-T c.933C>T p.T311= Synonymous 10/106 - 1
19-38939132-TC-AA c.938_939delinsAA p.F313* Nonsense 10/106 - 1
19-38939138-TC-AA c.944_945delinsAA p.F315* Nonsense 10/106 - 1
19-38939141-G-A c.947G>A p.R316H Missense 10/106 - 2
19-38939141-G-T c.947G>T p.R316L Missense 10/106 - 1
19-38939152-GTCAGTGGGGTTTGTGGCGCCCTCCC-G c.957+5_957+29del - IntronicDeletion - 10/105 2
19-38939290-A-T c.959A>T p.E320V Missense 11/106 - 1
19-38939313-C-A c.982C>A p.R328= Synonymous 11/106 - 1
19-38939313-C-T c.982C>T p.R328W Missense 11/106 - 6
19-38939332-G-GC c.1007dup p.E337* Nonsense 11/106 - 1
19-38939339-T-TG c.1009dup p.E337Gfs*168 Frameshift 11/106 - 1
19-38939343-A-G c.1012A>G p.I338V Missense 11/106 - 1
19-38939352-G-A c.1021G>A p.G341R Missense 11/106 - 22
19-38939352-G-C c.1021G>C p.G341R Missense 11/106 - 10
19-38939355-G-A c.1024G>A p.E342K Missense 11/106 - 2
19-38939370-G-A c.1039G>A p.V347M Missense 11/106 - 1
19-38939395-G-A c.1064G>A p.W355* Nonsense 11/106 - 2
19-38939408-T-A c.1077T>A p.A359= Synonymous 11/106 - 1
19-38939408-T-C c.1077T>C p.A359= Synonymous 11/106 - 1
19-38939408-T-G c.1077T>G p.A359= Synonymous 11/106 - 2
19-38939413-CA-AT c.1082_1083delinsAT p.P361H Missense 11/106 - 1
19-38939431-G-A c.1100G>A p.R367Q Missense 11/106 - 1
19-38939431-G-T c.1100G>T p.R367L Missense 11/106 - 2
19-38939439-G-A c.1108G>A p.V370M Missense 11/106 - 1
19-38939505-T-C c.1122+52T>C - IntronicSNV - 11/105 1
19-38942406-C-A c.1125C>A p.A375= Synonymous 12/106 - 1
19-38942406-C-G c.1125C>G p.A375= Synonymous 12/106 - 1
19-38942406-C-T c.1125C>T p.A375= Synonymous 12/106 - 1
19-38942434-G-A c.1153G>A p.D385N Missense 12/106 - 1
19-38942437-G-A c.1156G>A p.A386T Missense 12/106 - 1
19-38942453-G-C c.1172G>C p.R391P Missense 12/106 - 1
19-38942467-G-T c.1186G>T p.E396* Nonsense 12/106 - 1
19-38942472-C-T c.1191C>T p.S397= Synonymous 12/106 - 1
19-38942482-C-G c.1201C>G p.R401G Missense 12/106 - 1
19-38942482-C-T c.1201C>T p.R401C Missense 12/106 - 10
19-38942483-G-A c.1202G>A p.R401H Missense 12/106 - 5
19-38942483-G-T c.1202G>T p.R401L Missense 12/106 - 1
19-38942486-T-C c.1205T>C p.M402T Missense 12/106 - 2
19-38942490-C-G c.1209C>G p.I403M Missense 12/106 - 10
19-38942490-C-T c.1209C>T p.I403= Synonymous 12/106 - 1
19-38942492-A-AC c.1212dup p.S405Qfs*100 Frameshift 12/106 - 1
19-38942499-C-A c.1218C>A p.T406= Synonymous 12/106 - 1
19-38942499-C-G c.1218C>G p.T406= Synonymous 12/106 - 1
19-38942499-C-T c.1218C>T p.T406= Synonymous 12/106 - 1
19-38943464-T-C c.1250T>C p.L417P Missense 13/106 - 2
19-38943479-GG-AC c.1265_1266delinsAC p.G422D Missense 13/106 - 1
19-38943479-G-T c.1265G>T p.G422V Missense 13/106 - 1
19-38943488-G-A c.1274G>A p.R425Q Missense 13/106 - 1
19-38943500-C-T c.1286C>T p.P429L Missense 13/106 - 1
19-38943512-C-A c.1298C>A p.T433K Missense 13/106 - 1
19-38943521-C-G c.1307C>G p.P436R Missense 13/106 - 1
19-38943526-G-A c.1312G>A p.E438K Missense 13/106 - 1
19-38943532-G-A c.1318G>A p.V440I Missense 13/106 - 1
19-38943532-GTT-ATG c.1318_1320delinsATG p.V440M Missense 13/106 - 1
19-38943574-C-T c.1360C>T p.P454S Missense 13/106 - 1
19-38943580-G-A c.1366G>A p.E456K Missense 13/106 - 1
19-38943586-TTG-CAT c.1372_1374delinsCAT p.L458H Missense 13/106 - 2
19-38943587-T-A c.1373T>A p.L458* Nonsense 13/106 - 1
19-38943593-A-G c.1379A>G p.H460R Missense 13/106 - 1
19-38943605-A-G c.1391A>G p.Q464R Missense 13/106 - 1
19-38943607-AGC-TGA c.1393_1395delinsTGA p.S465* Nonsense 13/106 - 1
19-38943728-G-A c.1440+74G>A - IntronicSNV - 13/105 1
19-38945851-T-C c.1441-24T>C - IntronicSNV - 13/105 1
19-38945887-A-G c.1453A>G p.M485V Missense 14/106 - 8
19-38945887-AT-TA c.1453_1454delinsTA p.M485* Nonsense 14/106 - 1
19-38945887-AT-TG c.1453_1454delinsTG p.M485W Missense 14/106 - 1
19-38945894-T-C c.1460T>C p.L487P Missense 14/106 - 1
19-38945901-C-T c.1467C>T p.C489= Synonymous 14/106 - 1
19-38945908-C-G c.1474C>G p.R492G Missense 14/106 - 1
19-38945908-C-T c.1474C>T p.R492C Missense 14/106 - 1
19-38945909-G-A c.1475G>A p.R492H Missense 14/106 - 1
19-38945909-G-T c.1475G>T p.R492L Missense 14/106 - 1
19-38945950-G-A c.1516G>A p.A506T Missense 14/106 - 1
19-38945954-G-A c.1520G>A p.G507E Missense 14/106 - 1
19-38945956-G-C c.1522G>C p.E508Q Missense 14/106 - 1
19-38945968-G-A c.1534G>A p.E512K Missense 14/106 - 3
19-38945987-T-C c.1553T>C p.V518A Missense 14/106 - 1
19-38945999-A-C c.1565A>C p.Y522S Missense 14/106 - 85
19-38945999-A-G c.1565A>G p.Y522C Missense 14/106 - 3
19-38946000-T-C c.1566T>C p.Y522= Synonymous 14/106 - 1
19-38946008-T-A c.1574T>A p.L525Q Missense 14/106 - 1
19-38946101-C-A c.1587C>A p.I529= Synonymous 15/106 - 1
19-38946101-C-T c.1587C>T p.I529= Synonymous 15/106 - 1
19-38946103-G-A c.1589G>A p.R530H Missense 15/106 - 17
19-38946103-G-T c.1589G>T p.R530L Missense 15/106 - 3
19-38946111-C-A c.1597C>A p.R533S Missense 15/106 - 1
19-38946111-C-G c.1597C>G p.R533G Missense 15/106 - 1
19-38946111-C-T c.1597C>T p.R533C Missense 15/106 - 6
19-38946112-G-A c.1598G>A p.R533H Missense 15/106 - 9
19-38946118-A-G c.1604A>G p.N535S Missense 15/106 - 1
19-38946123-G-A c.1609G>A p.A537T Missense 15/106 - 1
19-38946129-T-G c.1615T>G p.F539V Missense 15/106 - 1
19-38946152-TGG-T c.1638_1639del p.V547Qfs*22 Frameshift 15/106 - 1
19-38946154-T-C c.1640T>C p.V547A Missense 15/106 - 2
19-38946168-C-T c.1654C>T p.R552W Missense 15/106 - 10
19-38946169-G-A c.1655G>A p.R552Q Missense 15/106 - 1
19-38946182-G-A c.1668G>A p.S556= Synonymous 15/106 - 3
19-38946182-G-C c.1668G>C p.S556= Synonymous 15/106 - 1
19-38946182-G-T c.1668G>T p.S556= Synonymous 15/106 - 1
19-38946274-C-CA c.1675dup p.I559Nfs*11 Frameshift 16/106 - 1
19-38946278-C-G c.1678C>G p.L560V Missense 16/106 - 1
19-38946290-T-C c.1690T>C p.Y564H Missense 16/106 - 1
19-38946299-C-T c.1699C>T p.L567F Missense 16/106 - 1
19-38946320-C-G c.1720C>G p.L574V Missense 16/106 - 1
19-38946341-C-CA c.1742dup p.H581Qfs*29 Frameshift 16/106 - 1
19-38946344-A-G c.1744A>G p.I582V Missense 16/106 - 1
19-38946350-T-A c.1750T>A p.S584T Missense 16/106 - 1
19-38946368-G-A c.1768G>A p.D590N Missense 16/106 - 1
19-38946378-G-A c.1778G>A p.G593E Missense 16/106 - 1
19-38948155-T-A c.1810T>A p.S604T Missense 17/106 - 1
19-38948162-G-A c.1817G>A p.C606Y Missense 17/106 - 2
19-38948175-T-TG c.1831dup p.V611Gfs*12 Frameshift 17/106 - 1
19-38948178-G-A c.1833G>A p.V611= Synonymous 17/106 - 1
19-38948178-G-C c.1833G>C p.V611= Synonymous 17/106 - 1
19-38948178-G-T c.1833G>T p.V611= Synonymous 17/106 - 1
19-38948185-C-G c.1840C>G p.R614G Missense 17/106 - 2
19-38948185-C-T c.1840C>T p.R614C Missense 17/106 - 42
19-38948186-G-A c.1841G>A p.R614H Missense 17/106 - 1
19-38948186-G-T c.1841G>T p.R614L Missense 17/106 - 9
19-38948227-C-T c.1882C>T p.R628C Missense 17/106 - 1
19-38948228-G-A c.1883G>A p.R628H Missense 17/106 - 2
19-38948242-C-A c.1897C>A p.Q633K Missense 17/106 - 1
19-38948242-C-T c.1897C>T p.Q633* Nonsense 17/106 - 1
19-38948254-A-G c.1909A>G p.I637V Missense 17/106 - 1
19-38948268-C-A c.1923C>A p.T641= Synonymous 17/106 - 1
19-38948268-C-G c.1923C>G p.T641= Synonymous 17/106 - 1
19-38948268-C-T c.1923C>T p.T641= Synonymous 17/106 - 1
19-38948356-T-C c.1925+86T>C - IntronicSNV - 17/105 1
19-38948695-C-T c.1930C>T p.R644C Missense 18/106 - 1
19-38948696-G-A c.1931G>A p.R644H Missense 18/106 - 1
19-38948704-A-T c.1939A>T p.I647F Missense 18/106 - 1
19-38948716-CGA-TGT c.1951_1953delinsTGT p.R651C Missense 18/106 - 1
19-38948720-C-T c.1955C>T p.A652V Missense 18/106 - 1
19-38948723-A-G c.1958A>G p.E653G Missense 18/106 - 1
19-38948732-C-T c.1967C>T p.T656M Missense 18/106 - 1
19-38948747-G-A c.1982G>A p.W661* Nonsense 18/106 - 1
19-38948756-AG-A c.1993del p.V665* Frameshift 18/106 - 1
19-38948763-G-T c.1998G>T p.M666I Missense 18/106 - 1
19-38948800-AC-A c.2038del p.H680Tfs*50 Frameshift 18/106 - 1
19-38948809-C-G c.2044C>G p.R682G Missense 18/106 - 1
19-38948809-C-T c.2044C>T p.R682W Missense 18/106 - 1
19-38948810-G-C c.2045G>C p.R682P Missense 18/106 - 1
19-38948856-C-A c.2091C>A p.A697= Synonymous 18/106 - 1
19-38948856-C-G c.2091C>G p.A697= Synonymous 18/106 - 1
19-38948856-C-T c.2091C>T p.A697= Synonymous 18/106 - 1
19-38948860-GAG-AAC c.2095_2097delinsAAC p.E699N Missense 18/106 - 1
19-38948855-CCGGCGAGGGCTGGGGCGGCAACGGGGT-C c.2097_2123del p.E699_G707del InFrameDeletion 18/106 - 1
19-38948862-G-C c.2097G>C p.E699D Missense 18/106 - 1
19-38948862-G-T c.2097G>T p.E699D Missense 18/106 - 1
19-38948878-G-C c.2113G>C p.G705R Missense 18/106 - 1
19-38948882-TCGG-T c.2120_2122del p.G707del InFrameDeletion 18/106 - 1
19-38948886-C-A c.2121C>A p.G707= Synonymous 18/106 - 1
19-38948886-C-G c.2121C>G p.G707= Synonymous 18/106 - 1
19-38948886-C-T c.2121C>T p.G707= Synonymous 18/106 - 1
19-38948887-G-A c.2122G>A p.D708N Missense 18/106 - 6
19-38948890-G-T c.2125G>T p.D709Y Missense 18/106 - 1
19-38948914-G-T c.2149G>T p.G717* Nonsense 18/106 - 1
19-38949729-T-G c.2168-57T>G - IntronicSNV - 18/105 1
19-38949786-G-A c.2168G>A p.G723E Missense 19/106 - 1
19-38949797-C-T c.2179C>T p.R727C Missense 19/106 - 1
19-38949842-G-A c.2224G>A p.V742M Missense 19/106 - 1
19-38949847-C-T c.2229C>T p.I743= Synonymous 19/106 - 1
19-38949857-C-T c.2239C>T p.L747= Synonymous 19/106 - 1
19-38949859-G-A c.2241G>A p.L747= Synonymous 19/106 - 1
19-38949859-G-C c.2241G>C p.L747= Synonymous 19/106 - 1
19-38949859-G-T c.2241G>T p.L747= Synonymous 19/106 - 1
19-38949867-G-A c.2249G>A p.S750N Missense 19/106 - 1
19-38949893-A-G c.2275A>G p.N759D Missense 19/106 - 1
19-38949900-GC-G c.2286del p.V763Cfs*121 Frameshift 19/106 - 1
19-38949904-C-A c.2286C>A p.P762= Synonymous 19/106 - 1
19-38949904-C-G c.2286C>G p.P762= Synonymous 19/106 - 1
19-38949904-C-T c.2286C>T p.P762= Synonymous 19/106 - 3
19-38949905-G-A c.2287G>A p.V763M Missense 19/106 - 1
19-38949906-T-A c.2288T>A p.V763E Missense 19/106 - 1
19-38949910-G-C c.2292G>C p.Q764H Missense 19/106 - 1
19-38949922-G-C c.2304G>C p.E768D Missense 19/106 - 1
19-38949938-G-A c.2320G>A p.G774R Missense 19/106 - 1
19-38949938-G-C c.2320G>C p.G774R Missense 19/106 - 1
19-38949943-C-G c.2325C>G p.L775= Synonymous 19/106 - 1
19-38950947-C-T c.2361-68C>T - IntronicSNV - 19/105 1
19-38951013-AG-A c.2362del p.V788Cfs*96 Frameshift 20/106 - 2
19-38951019-C-T c.2365C>T p.R789W Missense 20/106 - 1
19-38951020-G-A c.2366G>A p.R789Q Missense 20/106 - 2
19-38951037-C-T c.2383C>T p.R795C Missense 20/106 - 2
19-38951051-C-A c.2397C>A p.F799L Missense 20/106 - 1
19-38951082-T-A c.2428T>A p.C810S Missense 20/106 - 1
19-38951086-A-T c.2432A>T p.H811L Missense 20/106 - 1
19-38951090-G-A c.2436G>A p.E812= Synonymous 20/106 - 1
19-38951094-G-T c.2440G>T p.V814L Missense 20/106 - 1
19-38951099-C-T c.2445C>T p.L815= Synonymous 20/106 - 1
19-38951100-C-T c.2446C>T p.P816S Missense 20/106 - 2
19-38951101-C-T c.2447C>T p.P816L Missense 20/106 - 1
19-38951106-G-A c.2452G>A p.E818K Missense 20/106 - 1
19-38951109-C-T c.2455C>T p.R819* Nonsense 20/106 - 1
19-38951130-A-T c.2476A>T p.K826* Nonsense 20/106 - 1
19-38951140-G-A c.2486G>A p.R829Q Missense 20/106 - 1
19-38951142-C-T c.2488C>T p.R830W Missense 20/106 - 4
19-38951143-G-A c.2489G>A p.R830Q Missense 20/106 - 1
19-38951148-GG-TT c.2494_2495delinsTT p.G832L Missense 20/106 - 1
19-38951157-G-A c.2503G>A p.G835R Missense 20/106 - 1
19-38951154-CG-C c.2505del p.P836Lfs*48 Frameshift 20/106 - 3
19-38951175-C-G c.2521C>G p.P841A Missense 20/106 - 1
19-38951199-G-A c.2545G>A p.D849N Missense 20/106 - 1
19-38951202-T-G c.2548T>G p.F850V Missense 20/106 - 1
19-38951204-C-G c.2550C>G p.F850L Missense 20/106 - 1
19-38951231-G-C c.2577G>C p.Q859H Missense 20/106 - 1
19-38951238-C-T c.2577+7C>T - IntronicSNV - 20/105 1
19-38954079-A-G c.2594A>G p.H865R Missense 21/106 - 1
19-38954088-G-A c.2603G>A p.R868H Missense 21/106 - 1
19-38954093-C-T c.2608C>T p.R870W Missense 21/106 - 1
19-38954116-C-T c.2631C>T p.I877= Synonymous 21/106 - 1
19-38954120-G-A c.2635G>A p.E879K Missense 21/106 - 1
19-38954130-C-T c.2645C>T p.A882V Missense 21/106 - 1
19-38954133-T-C c.2648T>C p.L883P Missense 21/106 - 1
19-38954139-G-A c.2654G>A p.R885H Missense 21/106 - 4
19-38954139-G-T c.2654G>T p.R885L Missense 21/106 - 2
19-38954144-G-A c.2659G>A p.E887K Missense 21/106 - 3
19-38954147-C-T c.2662C>T p.Q888* Nonsense 21/106 - 1
19-38954157-CC-TG c.2672_2673delinsTG p.T891M Missense 21/106 - 1
19-38954162-G-A c.2677G>A p.G893S Missense 21/106 - 4
19-38954167-G-A c.2682G>A p.P894= Synonymous 21/106 - 1
19-38954193-G-T c.2682+26G>T - IntronicSNV - 21/105 1
19-38954391-G-A c.2687G>A p.R896Q Missense 22/106 - 2
19-38954396-G-A c.2692G>A p.D898N Missense 22/106 - 1
19-38954397-A-T c.2693A>T p.D898V Missense 22/106 - 1
19-38954401-C-A c.2697C>A p.N899K Missense 22/106 - 1
19-38954413-ACCC-A c.2709_2711del p.H903_P904delinsQ MultiAAMissense 22/106 - 1
19-38954413-C-G c.2709C>G p.H903Q Missense 22/106 - 1
19-38954415-C-T c.2711C>T p.P904L Missense 22/106 - 1
19-38954471-A-G c.2767A>G p.M923V Missense 22/106 - 1
19-38954481-A-C c.2777A>C p.E926A Missense 22/106 - 1
19-38955289-G-A c.2797G>A p.A933T Missense 23/106 - 2
19-38955352-C-T c.2860C>T p.L954F Missense 23/106 - 2
19-38955362-C-T c.2870C>T p.T957M Missense 23/106 - 1
19-38955363-G-A c.2870+1G>A - IntronicSNV - 23/105 1
19-38956770-C-A c.2910C>A p.D970E Missense 24/106 - 1
19-38956777-C-T c.2917C>T p.H973Y Missense 24/106 - 1
19-38956779-C-T c.2919C>T p.H973= Synonymous 24/106 - 1
19-38956780-G-A c.2920G>A p.V974M Missense 24/106 - 3
19-38956783-C-T c.2923C>T p.R975W Missense 24/106 - 4
19-38956790-C-T c.2930C>T p.T977M Missense 24/106 - 1
19-38956798-C-T c.2938C>T p.Q980* Nonsense 24/106 - 1
19-38956803-G-A c.2943G>A p.T981= Synonymous 24/106 - 2
19-38956803-G-C c.2943G>C p.T981= Synonymous 24/106 - 4
19-38956803-G-T c.2943G>T p.T981= Synonymous 24/106 - 1
19-38956813-GA-TG c.2953_2954delinsTG p.D985C Missense 24/106 - 1
19-38956826-A-G c.2966A>G p.E989G Missense 24/106 - 3
19-38956834-C-G c.2974C>G p.H992D Missense 24/106 - 1
19-38956839-C-T c.2979C>T p.N993= Synonymous 24/106 - 3
19-38956844-G-A c.2984G>A p.W995* Nonsense 24/106 - 1
19-38956849-C-T c.2989C>T p.R997* Nonsense 24/106 - 1
19-38956850-G-A c.2990G>A p.R997Q Missense 24/106 - 1
19-38956853-A-T c.2993A>T p.D998V Missense 24/106 - 1
19-38956856-G-A c.2996G>A p.R999H Missense 24/106 - 2
19-38956865-A-G c.3005A>G p.Q1002R Missense 24/106 - 1
19-38956882-G-A c.3022G>A p.A1008T Missense 24/106 - 1
19-38956904-G-A c.3044G>A p.R1015H Missense 24/106 - 1
19-38956907-G-A c.3047G>A p.R1016Q Missense 24/106 - 1
19-38956915-C-T c.3055C>T p.R1019W Missense 24/106 - 1
19-38956924-C-T c.3064C>T p.P1022S Missense 24/106 - 1
19-38956931-G-A c.3071G>A p.R1024H Missense 24/106 - 1
19-38956942-G-A c.3082G>A p.E1028K Missense 24/106 - 1
19-38956948-AC-TG c.3088_3089delinsTG p.T1030C Missense 24/106 - 1
19-38956954-C-T c.3094C>T p.R1032C Missense 24/106 - 1
19-38956963-C-T c.3103C>T p.R1035W Missense 24/106 - 1
19-38956964-G-A c.3104G>A p.R1035Q Missense 24/106 - 1
19-38956987-C-T c.3127C>T p.R1043C Missense 24/106 - 6
19-38956988-G-A c.3128G>A p.R1043H Missense 24/106 - 3
19-38957026-G-C c.3166G>C p.D1056H Missense 24/106 - 2
19-38957032-G-A c.3172G>A p.E1058K Missense 24/106 - 1
19-38957036-C-T c.3176C>T p.P1059L Missense 24/106 - 1
19-38958260-G-C c.3189G>C p.E1063D Missense 25/106 - 1
19-38958279-C-T c.3208C>T p.R1070W Missense 25/106 - 1
19-38958286-G-A c.3215G>A p.R1072H Missense 25/106 - 1
19-38958294-C-T c.3223C>T p.R1075W Missense 25/106 - 3
19-38958295-G-A c.3224G>A p.R1075Q Missense 25/106 - 1
19-38958327-C-A c.3256C>A p.R1086S Missense 25/106 - 1
19-38958327-C-T c.3256C>T p.R1086C Missense 25/106 - 1
19-38958328-G-A c.3257G>A p.R1086H Missense 25/106 - 10
19-38958355-C-A c.3284C>A p.T1095N Missense 25/106 - 1
19-38958370-G-A c.3299G>A p.R1100H Missense 25/106 - 1
19-38958372-G-A c.3301G>A p.V1101M Missense 25/106 - 1
19-38958375-G-C c.3304G>C p.G1102R Missense 25/106 - 1
19-38958387-C-G c.3316C>G p.P1106A Missense 25/106 - 1
19-38958396-AG-CT c.3325_3326inv p.R1109L Missense 25/106 - 1
19-38958397-G-A c.3326G>A p.R1109K Missense 25/106 - 2
19-38958403-A-T c.3332A>T p.D1111V Missense 25/106 - 1
19-38958423-G-A c.3352G>A p.E1118K Missense 25/106 - 1
19-38958433-A-G c.3362A>G p.Y1121C Missense 25/106 - 2
19-38958436-T-G c.3365T>G p.V1122G Missense 25/106 - 1
19-38958450-C-T c.3379C>T p.R1127C Missense 25/106 - 1
19-38958451-G-A c.3380G>A p.R1127H Missense 25/106 - 1
19-38958453-G-A c.3381+1G>A - IntronicSNV - 25/105 1
19-38959196-T-G c.3382-410T>G - IntronicSNV - 25/105 1
19-38959613-G-A c.3389G>A p.R1130H Missense 26/106 - 2
19-38959624-G-A c.3400G>A p.G1134S Missense 26/106 - 1
19-38959642-C-T c.3418C>T p.R1140C Missense 26/106 - 1
19-38959643-G-T c.3419G>T p.R1140L Missense 26/106 - 1
19-38959661-A-G c.3437A>G p.D1146G Missense 26/106 - 1
19-38959673-TG-T c.3449del p.C1150Lfs*2 Frameshift 26/106 - 1
19-38959680-C-A c.3456C>A p.I1152= Synonymous 26/106 - 2
19-38959680-C-T c.3456C>T p.I1152= Synonymous 26/106 - 2
19-38959684-C-T c.3460C>T p.L1154F Missense 26/106 - 1
19-38959701-T-G c.3477T>G p.I1159M Missense 26/106 - 1
19-38959709-C-T c.3485C>T p.T1162I Missense 26/106 - 1
19-38959718-G-A c.3494G>A p.G1165D Missense 26/106 - 1
19-38959719-C-T c.3495C>T p.G1165= Synonymous 26/106 - 3
19-38959725-CCT-C c.3503_3504del p.L1168Hfs*3 Frameshift 26/106 - 1
19-38959729-A-C c.3505A>C p.M1169L Missense 26/106 - 1
19-38959730-T-C c.3506T>C p.M1169T Missense 26/106 - 1
19-38959747-G-A c.3523G>A p.E1175K Missense 26/106 - 6
19-38959748-A-G c.3524A>G p.E1175G Missense 26/106 - 1
19-38959759-C-T c.3535C>T p.R1179W Missense 26/106 - 1
19-38959772-T-C c.3548T>C p.I1183T Missense 26/106 - 1
19-38959950-C-T c.3562C>T p.L1188= Synonymous 27/106 - 1
19-38960007-G-A c.3619G>A p.V1207M Missense 27/106 - 3
19-38960067-A-G c.3679A>G p.I1227V Missense 27/106 - 1
19-38960074-ATGCAGCGCCCAGTC-A c.3686_3699del p.M1229Nfs*12 Frameshift 27/106 - 1
19-38960080-G-A c.3692G>A p.R1231H Missense 27/106 - 1
19-38960109-C-T c.3721C>T p.L1241= Synonymous 27/106 - 1
19-38960148-T-C c.3760T>C p.Y1254H Missense 27/106 - 1
19-38964024-G-A c.3773G>A p.R1258Q Missense 28/106 - 1
19-38964060-G-A c.3809G>A p.R1270H Missense 28/106 - 1
19-38964066-C-T c.3815C>T p.T1272I Missense 28/106 - 1
19-38964071-C-T c.3820C>T p.R1274C Missense 28/106 - 1
19-38964090-A-G c.3839A>G p.N1280S Missense 28/106 - 1
19-38964109-T-A c.3858T>A p.L1286= Synonymous 28/106 - 1
19-38964109-T-C c.3858T>C p.L1286= Synonymous 28/106 - 1
19-38964109-T-G c.3858T>G p.L1286= Synonymous 28/106 - 1
19-38964117-G-A c.3866G>A p.R1289Q Missense 28/106 - 1
19-38964131-G-T c.3880G>T p.V1294F Missense 28/106 - 2
19-38964152-C-T c.3901C>T p.R1301C Missense 28/106 - 2
19-38964179-G-T c.3928G>T p.A1310S Missense 28/106 - 1
19-38964186-C-T c.3935C>T p.P1312L Missense 28/106 - 1
19-38964201-C-T c.3950C>T p.P1317L Missense 28/106 - 1
19-38964206-G-A c.3955G>A p.E1319K Missense 28/106 - 1
19-38964218-C-T c.3967C>T p.R1323W Missense 28/106 - 1
19-38964226-G-A c.3975G>A p.A1325= Synonymous 28/106 - 1
19-38964236-C-G c.3985C>G p.P1329A Missense 28/106 - 1
19-38964254-C-T c.4003C>T p.R1335C Missense 28/106 - 1
19-38964258-G-A c.4007G>A p.R1336H Missense 28/106 - 1
19-38964275-A-G c.4024A>G p.S1342G Missense 28/106 - 11
19-38964289-C-A c.4038C>A p.N1346K Missense 28/106 - 1
19-38964302-A-T c.4051A>T p.T1351S Missense 28/106 - 1
19-38964306-C-G c.4055C>G p.A1352G Missense 28/106 - 4
19-38964317-G-A c.4066G>A p.A1356T Missense 28/106 - 2
19-38964322-C-A c.4071C>A p.P1357= Synonymous 28/106 - 1
19-38964322-C-G c.4071C>G p.P1357= Synonymous 28/106 - 1
19-38964322-C-T c.4071C>T p.P1357= Synonymous 28/106 - 1
19-38964323-G-A c.4072G>A p.G1358R Missense 28/106 - 1
19-38964323-G-C c.4072G>C p.G1358R Missense 28/106 - 1
19-38964328-C-A c.4077C>A p.G1359= Synonymous 28/106 - 1
19-38964333-C-G c.4082C>G p.P1361R Missense 28/106 - 1
19-38964339-C-T c.4088C>T p.A1363V Missense 28/106 - 3
19-38964341-G-C c.4090G>C p.G1364R Missense 28/106 - 1
19-38964339-CG-C c.4094del p.G1365Efs*33 Frameshift 28/106 - 2
19-38964350-G-C c.4099G>C p.A1367P Missense 28/106 - 1
19-38964359-G-A c.4108G>A p.A1370T Missense 28/106 - 1
19-38964364-G-C c.4113G>C p.R1371S Missense 28/106 - 1
19-38964366-C-T c.4115C>T p.A1372V Missense 28/106 - 2
19-38964401-A-C c.4150A>C p.K1384Q Missense 28/106 - 1
19-38965975-A-G c.4178A>G p.K1393R Missense 29/106 - 12
19-38966001-C-T c.4204C>T p.P1402S Missense 29/106 - 1
19-38966014-C-T c.4217C>T p.T1406M Missense 29/106 - 1
19-38966022-C-T c.4225C>T p.R1409* Nonsense 29/106 - 3
19-38966034-G-A c.4237G>A p.D1413N Missense 29/106 - 2
19-38966066-C-A c.4269C>A p.P1423= Synonymous 29/106 - 1
19-38966066-C-G c.4269C>G p.P1423= Synonymous 29/106 - 1
19-38966066-C-T c.4269C>T p.P1423= Synonymous 29/106 - 1
19-38966067-G-A c.4270G>A p.E1424K Missense 29/106 - 1
19-38966089-C-T c.4292C>T p.T1431M Missense 29/106 - 1
19-38966090-G-A c.4293G>A p.T1431= Synonymous 29/106 - 1
19-38968362-G-A c.4306G>A p.V1436M Missense 30/106 - 1
19-38968394-C-T c.4338C>T p.C1446= Synonymous 30/106 - 1
19-38968414-C-A c.4358C>A p.T1453N Missense 30/106 - 1
19-38968461-C-T c.4405C>T p.R1469W Missense 30/106 - 3
19-38968484-G-A c.4428G>A p.G1476= Synonymous 30/106 - 1
19-38968484-G-C c.4428G>C p.G1476= Synonymous 30/106 - 1
19-38968484-G-T c.4428G>T p.G1476= Synonymous 30/106 - 1
19-38968500-G-A c.4444G>A p.V1482I Missense 30/106 - 1
19-38968510-G-A c.4454G>A p.S1485N Missense 30/106 - 1
19-38969098-T-G c.4478T>G p.M1493R Missense 31/106 - 1
19-38969100-GTGTGGGGCGGAGACTT-G c.4485_4500del p.W1495* Frameshift 31/106 - 3
19-38969105-G-A c.4485G>A p.W1495* Nonsense 31/106 - 1
19-38969114-CTT-C c.4496_4497del p.F1499Cfs*47 Frameshift 31/106 - 1
19-38969139-CGG-TGT c.4519_4521delinsTGT p.R1507C Missense 31/106 - 1
19-38969139-C-T c.4519C>T p.R1507W Missense 31/106 - 1
19-38969140-G-A c.4520G>A p.R1507Q Missense 31/106 - 1
19-38969187-A-C c.4567A>C p.T1523P Missense 31/106 - 1
19-38969212-A-G c.4592A>G p.N1531S Missense 31/106 - 1
19-38969224-G-T c.4604G>T p.S1535I Missense 31/106 - 1
19-38973685-C-T c.4639C>T p.L1547= Synonymous 32/106 - 1
19-38973697-G-A c.4651G>A p.V1551I Missense 32/106 - 1
19-38973709-C-T c.4663C>T p.P1555S Missense 32/106 - 1
19-38973933-A-G c.4711A>G p.I1571V Missense 33/106 - 13
19-38973937-T-C c.4715T>C p.M1572T Missense 33/106 - 2
19-38973940-C-T c.4718C>T p.P1573L Missense 33/106 - 1
19-38973941-G-A c.4719G>A p.P1573= Synonymous 33/106 - 1
19-38973941-G-C c.4719G>C p.P1573= Synonymous 33/106 - 1
19-38973941-G-T c.4719G>T p.P1573= Synonymous 33/106 - 1
19-38973979-C-T c.4757C>T p.P1586L Missense 33/106 - 1
19-38973985-C-T c.4763C>T p.P1588L Missense 33/106 - 3
19-38973997-C-T c.4775C>T p.P1592L Missense 33/106 - 1
19-38973999-C-T c.4777C>T p.R1593W Missense 33/106 - 1
19-38974017-C-G c.4795C>G p.L1599V Missense 33/106 - 1
19-38974032-T-A c.4810T>A p.W1604R Missense 33/106 - 1
19-38974038-C-A c.4816C>A p.R1606S Missense 33/106 - 1
19-38974038-C-T c.4816C>T p.R1606C Missense 33/106 - 1
19-38974039-G-A c.4817G>A p.R1606H Missense 33/106 - 2
19-38974043-TG-T c.4821del p.M1607Ifs*27 Frameshift 33/106 - 1
19-38974059-C-T c.4837C>T p.Q1613* Nonsense 33/106 - 1
19-38974069-C-T c.4847C>T p.T1616M Missense 33/106 - 1
19-38974075-G-A c.4853G>A p.R1618H Missense 33/106 - 1
19-38974080-G-A c.4858G>A p.G1620S Missense 33/106 - 1
19-38974082-C-T c.4860C>T p.G1620= Synonymous 33/106 - 1
19-38974086-C-T c.4864C>T p.R1622W Missense 33/106 - 1
19-38974101-G-A c.4879G>A p.V1627M Missense 33/106 - 1
19-38974116-C-T c.4894C>T p.P1632S Missense 33/106 - 2
19-38974130-G-A c.4908G>A p.M1636I Missense 33/106 - 1
19-38974146-G-A c.4924G>A p.E1642K Missense 33/106 - 2
19-38974154-C-T c.4932C>T p.N1644= Synonymous 33/106 - 1
19-38976244-T-C c.4949T>C p.L1650P Missense 34/106 - 1
19-38976262-T-G c.4967T>G p.L1656R Missense 34/106 - 1
19-38976274-G-A c.4979G>A p.R1660H Missense 34/106 - 1
19-38976275-C-T c.4980C>T p.R1660= Synonymous 34/106 - 1
19-38976283-C-G c.4988C>G p.S1663W Missense 34/106 - 1
19-38976294-C-A c.4999C>A p.R1667S Missense 34/106 - 1
19-38976294-C-T c.4999C>T p.R1667C Missense 34/106 - 3
19-38976295-G-A c.5000G>A p.R1667H Missense 34/106 - 2
19-38976303-C-T c.5008C>T p.R1670C Missense 34/106 - 1
19-38976306-G-A c.5011G>A p.A1671T Missense 34/106 - 1
19-38976319-T-C c.5024T>C p.L1675P Missense 34/106 - 1
19-38976331-G-A c.5036G>A p.R1679H Missense 34/106 - 5
19-38976331-G-C c.5036G>C p.R1679P Missense 34/106 - 1
19-38976348-T-G c.5053T>G p.C1685G Missense 34/106 - 1
19-38976361-A-G c.5066A>G p.D1689G Missense 34/106 - 1
19-38976387-G-T c.5092G>T p.E1698* Nonsense 34/106 - 1
19-38976402-C-T c.5107C>T p.P1703S Missense 34/106 - 1
19-38976420-G-C c.5125G>C p.G1709R Missense 34/106 - 1
19-38976430-ACCT-A c.5140_5142del p.L1714del InFrameDeletion 34/106 - 1
19-38976478-C-T c.5183C>T p.S1728F Missense 34/106 - 5
19-38976481-T-C c.5186T>C p.M1729T Missense 34/106 - 2
19-38976501-C-T c.5206C>T p.P1736S Missense 34/106 - 1
19-38976567-C-T c.5272C>T p.P1758S Missense 34/106 - 1
19-38976582-C-T c.5287C>T p.P1763S Missense 34/106 - 1
19-38976598-C-T c.5303C>T p.T1768I Missense 34/106 - 1
19-38976612-C-T c.5317C>T p.P1773S Missense 34/106 - 2
19-38976616-C-A c.5321C>A p.P1774Q Missense 34/106 - 1
19-38976616-C-T c.5321C>T p.P1774L Missense 34/106 - 1
19-38976634-C-G c.5339C>G p.P1780R Missense 34/106 - 1
19-38976655-C-T c.5360C>T p.P1787L Missense 34/106 - 9
19-38976684-C-T c.5389C>T p.R1797C Missense 34/106 - 1
19-38976691-G-A c.5396G>A p.S1799N Missense 34/106 - 1
19-38976703-C-T c.5408C>T p.P1803L Missense 34/106 - 2
19-38976736-T-A c.5441T>A p.M1814K Missense 34/106 - 1
19-38976753-CGC-TGA c.5458_5460delinsTGA p.R1820* Nonsense 34/106 - 1
19-38976754-G-T c.5459G>T p.R1820L Missense 34/106 - 1
19-38976770-C-A c.5475C>A p.H1825Q Missense 34/106 - 1
19-38976770-C-G c.5475C>G p.H1825Q Missense 34/106 - 1
19-38976774-C-T c.5479C>T p.R1827C Missense 34/106 - 1
19-38976777-G-A c.5482G>A p.D1828N Missense 34/106 - 1
19-38976777-G-C c.5482G>C p.D1828H Missense 34/106 - 1
19-38976795-G-A c.5500G>A p.V1834M Missense 34/106 - 1
19-38976805-A-C c.5510A>C p.Q1837P Missense 34/106 - 1
19-38976819-C-G c.5524C>G p.L1842V Missense 34/106 - 1
19-38976837-C-G c.5542C>G p.L1848V Missense 34/106 - 1
19-38979817-G-A c.5548G>A p.V1850M Missense 35/106 - 1
19-38979871-C-A c.5602C>A p.P1868T Missense 35/106 - 1
19-38979877-G-C c.5608G>C p.V1870L Missense 35/106 - 1
19-38979894-AGAG-A c.5634_5636del p.E1878del InFrameDeletion 35/106 - 1
19-38979903-G-C c.5634G>C p.E1878D Missense 35/106 - 2
19-38979903-G-T c.5634G>T p.E1878D Missense 35/106 - 1
19-38979907-G-A c.5638G>A p.E1880K Missense 35/106 - 1
19-38979919-G-C c.5650G>C p.G1884R Missense 35/106 - 1
19-38979933-TGAG-T c.5671_5673del p.E1891del InFrameDeletion 35/106 - 1
19-38979943-A-G c.5674A>G p.K1892E Missense 35/106 - 1
19-38979954-TGAG-T c.5691_5693del p.E1898del InFrameDeletion 35/106 - 1
19-38979978-G-A c.5709G>A p.K1903= Synonymous 35/106 - 1
19-38979982-G-A c.5713G>A p.D1905N Missense 35/106 - 1
19-38979992-A-G c.5723A>G p.K1908R Missense 35/106 - 1
19-38979992-AAG-A c.5726_5727del p.E1909Gfs*39 Frameshift 35/106 - 1
19-38980005-GGCA-G c.5741_5743del p.A1914del InFrameDeletion 35/106 - 1
19-38980015-G-A c.5746G>A p.G1916R Missense 35/106 - 1
19-38980015-G-C c.5746G>C p.G1916R Missense 35/106 - 2
19-38980700-G-A c.5815-16G>A - IntronicSNV - 35/105 1
19-38980716-A-T c.5815A>T p.M1939L Missense 36/106 - 1
19-38980724-C-A c.5823C>A p.H1941Q Missense 36/106 - 1
19-38980764-G-A c.5863G>A p.V1955M Missense 36/106 - 1
19-38980767-G-A c.5866G>A p.E1956K Missense 36/106 - 1
19-38980770-T-A c.5869T>A p.S1957T Missense 36/106 - 1
19-38980792-G-A c.5891G>A p.R1964H Missense 36/106 - 1
19-38980808-CCAGG-C c.5909_5912del p.Q1970Pfs*11 Frameshift 36/106 - 1
19-38980816-A-T c.5915A>T p.N1972I Missense 36/106 - 2
19-38980821-C-T c.5920C>T p.R1974W Missense 36/106 - 1
19-38980822-G-A c.5921G>A p.R1974Q Missense 36/106 - 1
19-38980827-C-T c.5926C>T p.R1976C Missense 36/106 - 1
19-38980830-T-A c.5929T>A p.Y1977N Missense 36/106 - 1
19-38980882-G-C c.5981G>C p.R1994P Missense 36/106 - 1
19-38980888-G-C c.5987G>C p.R1996P Missense 36/106 - 1
19-38980889-C-T c.5988C>T p.R1996= Synonymous 36/106 - 1
19-38980890-G-A c.5989G>A p.E1997K Missense 36/106 - 1
19-38980896-C-T c.5995C>T p.R1999C Missense 36/106 - 1
19-38980900-C-T c.5999C>T p.S2000F Missense 36/106 - 1
19-38981268-T-C c.6023T>C p.M2008T Missense 37/106 - 1
19-38981272-AT-A c.6029del p.L2010Cfs*37 Frameshift 37/106 - 1
19-38981292-C-A c.6047C>A p.T2016K Missense 37/106 - 1
19-38981323-G-C c.6078G>C p.E2026D Missense 37/106 - 1
19-38981321-GAGATTCGAC-G c.6079_6087del p.I2027_Q2029del InFrameDeletion 37/106 - 1
19-38981327-C-T c.6082C>T p.R2028* Nonsense 37/106 - 1
19-38981328-G-A c.6083G>A p.R2028Q Missense 37/106 - 1
19-38983180-G-C c.6178G>C p.G2060R Missense 38/106 - 1
19-38983180-G-T c.6178G>T p.G2060C Missense 38/106 - 11
19-38983198-C-T c.6196C>T p.L2066= Synonymous 38/106 - 1
19-38983200-G-A c.6198G>A p.L2066= Synonymous 38/106 - 1
19-38983200-G-C c.6198G>C p.L2066= Synonymous 38/106 - 1
19-38983200-G-T c.6198G>T p.L2066= Synonymous 38/106 - 1
19-38983211-T-A c.6209T>A p.V2070E Missense 38/106 - 1
19-38983253-G-A c.6251G>A p.R2084Q Missense 38/106 - 1
19-38983263-G-A c.6261G>A p.E2087= Synonymous 38/106 - 1
19-38983277-G-A c.6274+1G>A - IntronicSNV - 38/105 1
19-38985019-T-C c.6302T>C p.M2101T Missense 39/106 - 1
19-38985028-G-A c.6311G>A p.R2104H Missense 39/106 - 1
19-38985058-C-T c.6341C>T p.P2114L Missense 39/106 - 1
19-38985069-C-T c.6352C>T p.R2118W Missense 39/106 - 1
19-38985076-T-C c.6359T>C p.M2120T Missense 39/106 - 2
19-38985092-C-A c.6375C>A p.H2125Q Missense 39/106 - 1
19-38985093-C-T c.6376C>T p.R2126W Missense 39/106 - 1
19-38985094-G-A c.6377G>A p.R2126Q Missense 39/106 - 2
19-38985101-C-T c.6384C>T p.Y2128= Synonymous 39/106 - 1
19-38985102-G-A c.6385G>A p.D2129N Missense 39/106 - 1
19-38985104-C-G c.6387C>G p.D2129E Missense 39/106 - 1
19-38985105-G-A c.6388G>A p.G2130R Missense 39/106 - 1
19-38985105-G-C c.6388G>C p.G2130R Missense 39/106 - 1
19-38985135-C-T c.6418C>T p.R2140W Missense 39/106 - 2
19-38985151-C-T c.6434C>T p.S2145L Missense 39/106 - 1
19-38985181-T-C c.6464T>C p.L2155P Missense 39/106 - 1
19-38985186-G-A c.6469G>A p.E2157K Missense 39/106 - 1
19-38985195-G-A c.6478G>A p.G2160S Missense 39/106 - 1
19-38985204-C-T c.6487C>T p.R2163C Missense 39/106 - 10
19-38985205-G-A c.6488G>A p.R2163H Missense 39/106 - 16
19-38985205-G-C c.6488G>C p.R2163P Missense 39/106 - 4
19-38985205-G-T c.6488G>T p.R2163L Missense 39/106 - 1
19-38985215-C-A c.6498C>A p.L2166= Synonymous 39/106 - 1
19-38985215-C-G c.6498C>G p.L2166= Synonymous 39/106 - 1
19-38985215-C-T c.6498C>T p.L2166= Synonymous 39/106 - 1
19-38985219-G-A c.6502G>A p.V2168M Missense 39/106 - 17
19-38985231-C-T c.6514C>T p.P2172S Missense 39/106 - 1
19-38985237-G-T c.6520G>T p.E2174* Nonsense 39/106 - 1
19-38985238-A-C c.6521A>C p.E2174A Missense 39/106 - 1
19-38985261-A-T c.6544A>T p.I2182F Missense 39/106 - 1
19-38986881-A-G c.6575A>G p.Y2192C Missense 40/106 - 1
19-38986890-C-T c.6584C>T p.P2195L Missense 40/106 - 1
19-38986905-C-T c.6599C>T p.A2200V Missense 40/106 - 3
19-38986918-C-A c.6612C>A p.H2204Q Missense 40/106 - 1
19-38986918-C-G c.6612C>G p.H2204Q Missense 40/106 - 2
19-38986923-C-G c.6617C>G p.T2206R Missense 40/106 - 5
19-38986923-C-T c.6617C>T p.T2206M Missense 40/106 - 25
19-38986934-G-C c.6628G>C p.V2210L Missense 40/106 - 1
19-38986945-C-T c.6639C>T p.N2213= Synonymous 40/106 - 1
19-38986960-C-T c.6654C>T p.G2218= Synonymous 40/106 - 1
19-38987055-C-T c.6670C>T p.R2224C Missense 41/106 - 1
19-38987056-G-A c.6671G>A p.R2224H Missense 41/106 - 3
19-38987082-T-C c.6697T>C p.C2233R Missense 41/106 - 2
19-38987085-C-T c.6700C>T p.R2234C Missense 41/106 - 1
19-38987095-G-A c.6710G>A p.C2237Y Missense 41/106 - 2
19-38987106-C-G c.6721C>G p.R2241G Missense 41/106 - 1
19-38987106-C-T c.6721C>T p.R2241* Nonsense 41/106 - 14
19-38987115-C-A c.6730C>A p.R2244= Synonymous 41/106 - 1
19-38987115-C-T c.6730C>T p.R2244W Missense 41/106 - 1
19-38987117-G-A c.6732G>A p.R2244= Synonymous 41/106 - 1
19-38987117-G-C c.6732G>C p.R2244= Synonymous 41/106 - 1
19-38987117-G-T c.6732G>T p.R2244= Synonymous 41/106 - 1
19-38987118-C-CA c.6734dup p.N2246Efs*7 Frameshift 41/106 - 1
19-38987125-A-G c.6740A>G p.Q2247R Missense 41/106 - 1
19-38987127-C-T c.6742C>T p.R2248C Missense 41/106 - 2
19-38987128-G-A c.6743G>A p.R2248H Missense 41/106 - 3
19-38987128-GC-AA c.6743_6744delinsAA p.R2248Q Missense 41/106 - 1
19-38987142-C-T c.6757C>T p.H2253Y Missense 41/106 - 1
19-38987170-G-A c.6785G>A p.G2262D Missense 41/106 - 1
19-38987499-G-A c.6797-1G>A - IntronicSNV - 41/105 1
19-38987506-A-AG c.6806dup p.S2270Lfs*13 Frameshift 42/106 - 1
19-38987526-G-A c.6823G>A p.V2275M Missense 42/106 - 1
19-38987541-G-A c.6838G>A p.V2280I Missense 42/106 - 5
19-38987550-A-C c.6847A>C p.N2283H Missense 42/106 - 4
19-38987559-C-G c.6856C>G p.L2286V Missense 42/106 - 1
19-38987563-C-A c.6860C>A p.A2287D Missense 42/106 - 1
19-38987595-G-T c.6891+1G>T - IntronicSNV - 42/105 1
19-38989754-T-C c.6898T>C p.S2300P Missense 43/106 - 1
19-38989755-C-T c.6899C>T p.S2300F Missense 43/106 - 1
19-38989785-GC-G c.6933del p.M2312Cfs*118 Frameshift 43/106 - 1
19-38989790-CA-C c.6934del p.M2312Cfs*118 Frameshift 43/106 - 1
19-38989817-A-G c.6961A>G p.I2321V Missense 43/106 - 5
19-38989818-T-C c.6962T>C p.I2321T Missense 43/106 - 1
19-38989838-G-A c.6982G>A p.G2328R Missense 43/106 - 1
19-38989845-G-A c.6989G>A p.R2330H Missense 43/106 - 1
19-38989862-C-T c.7006C>T p.R2336C Missense 43/106 - 2
19-38989863-G-A c.7007G>A p.R2336H Missense 43/106 - 17
19-38989877-G-A c.7021G>A p.V2341I Missense 43/106 - 1
19-38989881-A-G c.7025A>G p.N2342S Missense 43/106 - 14
19-38989883-G-A c.7027G>A p.G2343S Missense 43/106 - 2
19-38990265-G-A c.7028-10G>A - IntronicSNV - 43/105 1
19-38990279-G-C c.7032G>C p.E2344D Missense 44/106 - 1
19-38990279-G-T c.7032G>T p.E2344D Missense 44/106 - 1
19-38990281-G-A c.7034G>A p.S2345N Missense 44/106 - 2
19-38990281-G-C c.7034G>C p.S2345T Missense 44/106 - 3
19-38990280-A-C c.7033A>C p.S2345R Missense 44/106 - 1
19-38990282-C-A c.7035C>A p.S2345R Missense 44/106 - 2
19-38990282-C-G c.7035C>G p.S2345R Missense 44/106 - 1
19-38990283-G-A c.7036G>A p.V2346M Missense 44/106 - 2
19-38990284-TGGA-T c.7042_7044del p.E2348del InFrameDeletion 44/106 - 7
19-38990290-A-G c.7043A>G p.E2348G Missense 44/106 - 1
19-38990295-G-A c.7048G>A p.A2350T Missense 44/106 - 13
19-38990298-A-C c.7051A>C p.N2351H Missense 44/106 - 1
19-38990300-TGTG-T c.7060_7062del p.V2354del InFrameDeletion 44/106 - 3
19-38990307-G-A c.7060G>A p.V2354M Missense 44/106 - 2
19-38990310-C-T c.7063C>T p.R2355W Missense 44/106 - 13
19-38990319-A-C c.7072A>C p.I2358L Missense 44/106 - 2
19-38990320-T-C c.7073T>C p.I2358T Missense 44/106 - 1
19-38990323-G-A c.7076G>A p.R2359Q Missense 44/106 - 1
19-38990326-A-AG c.7080dup p.P2361Afs*2 Frameshift 44/106 - 1
19-38990331-G-A c.7084G>A p.E2362K Missense 44/106 - 1
19-38990331-G-C c.7084G>C p.E2362Q Missense 44/106 - 1
19-38990332-A-G c.7085A>G p.E2362G Missense 44/106 - 2
19-38990336-C-G c.7089C>G p.C2363W Missense 44/106 - 1
19-38990337-T-G c.7090T>G p.F2364V Missense 44/106 - 1
19-38990340-G-A c.7093G>A p.G2365R Missense 44/106 - 2
19-38990340-G-C c.7093G>C p.G2365R Missense 44/106 - 1
19-38990344-C-G c.7097C>G p.P2366R Missense 44/106 - 1
19-38990346-G-A c.7099G>A p.A2367T Missense 44/106 - 1
19-38990353-G-A c.7106G>A p.R2369Q Missense 44/106 - 2
19-38990358-G-A c.7111G>A p.E2371K Missense 44/106 - 3
19-38990359-A-G c.7112A>G p.E2371G Missense 44/106 - 2
19-38990367-T-C c.7120T>C p.S2374P Missense 44/106 - 1
19-38990371-G-C c.7124G>C p.G2375A Missense 44/106 - 9
19-38990388-G-A c.7141G>A p.E2381K Missense 44/106 - 1
19-38990390-A-T c.7143A>T p.E2381D Missense 44/106 - 1
19-38990409-G-A c.7162G>A p.E2388K Missense 44/106 - 1
19-38990407-CCGAGGACCCTG-C c.7166_7176del p.D2389Gfs*16 Frameshift 44/106 - 3
19-38990440-G-A c.7193G>A p.R2398H Missense 44/106 - 1
19-38990448-C-T c.7201C>T p.R2401W Missense 44/106 - 1
19-38990451-C-T c.7204C>T p.R2402W Missense 44/106 - 2
19-38990456-C-A c.7209C>A p.R2403= Synonymous 44/106 - 2
19-38990456-C-G c.7209C>G p.R2403= Synonymous 44/106 - 3
19-38990456-C-T c.7209C>T p.R2403= Synonymous 44/106 - 2
19-38990457-G-A c.7210G>A p.E2404K Missense 44/106 - 1
19-38990577-G-A c.7244G>A p.R2415Q Missense 45/106 - 1
19-38990593-C-T c.7260C>T p.H2420= Synonymous 45/106 - 1
19-38990594-G-T c.7261G>T p.A2421S Missense 45/106 - 1
19-38990601-T-A c.7268T>A p.M2423K Missense 45/106 - 3
19-38990604-C-T c.7271C>T p.S2424F Missense 45/106 - 1
19-38990610-A-G c.7277A>G p.Y2426C Missense 45/106 - 1
19-38990615-G-A c.7282G>A p.A2428T Missense 45/106 - 5
19-38990624-G-T c.7291G>T p.D2431Y Missense 45/106 - 1
19-38990632-C-A c.7299C>A p.L2433= Synonymous 45/106 - 1
19-38990632-C-G c.7299C>G p.L2433= Synonymous 45/106 - 1
19-38990632-C-T c.7299C>T p.L2433= Synonymous 45/106 - 1
19-38990633-G-A c.7300G>A p.G2434R Missense 45/106 - 31
19-38990633-G-C c.7300G>C p.G2434R Missense 45/106 - 6
19-38990636-CGC-AAG c.7303_7305delinsAAG p.R2435K Missense 45/106 - 1
19-38990637-G-A c.7304G>A p.R2435H Missense 45/106 - 16
19-38990637-G-T c.7304G>T p.R2435L Missense 45/106 - 9
19-38990638-CTG-C c.7308_7309del p.A2437Tfs*12 Frameshift 45/106 - 1
19-38991252-C-T c.7330C>T p.Q2444* Nonsense 46/106 - 1
19-38991258-G-A c.7336G>A p.G2446S Missense 46/106 - 1
19-38991276-C-T c.7354C>T p.R2452W Missense 46/106 - 16
19-38991277-G-C c.7355G>C p.R2452P Missense 46/106 - 1
19-38991280-T-C c.7358T>C p.I2453T Missense 46/106 - 3
19-38991282-C-G c.7360C>G p.R2454G Missense 46/106 - 1
19-38991282-C-T c.7360C>T p.R2454C Missense 46/106 - 12
19-38991283-G-A c.7361G>A p.R2454H Missense 46/106 - 14
19-38991286-C-G c.7364C>G p.A2455G Missense 46/106 - 1
19-38991294-C-T c.7372C>T p.R2458C Missense 46/106 - 10
19-38991295-G-A c.7373G>A p.R2458H Missense 46/106 - 12
19-38991295-G-T c.7373G>T p.R2458L Missense 46/106 - 1
19-38991303-GTG-ATC c.7381_7383delinsATC p.V2461I Missense 46/106 - 1
19-38991304-T-G c.7382T>G p.V2461G Missense 46/106 - 1
19-38991307-C-T c.7385C>T p.P2462L Missense 46/106 - 1
19-38991355-C-A c.7433C>A p.T2478N Missense 46/106 - 2
19-38991484-A-G c.7468A>G p.M2490V Missense 47/106 - 1
19-38991502-C-T c.7486C>T p.P2496S Missense 47/106 - 1
19-38991538-C-G c.7522C>G p.R2508G Missense 47/106 - 5
19-38991538-C-T c.7522C>T p.R2508C Missense 47/106 - 9
19-38991539-G-A c.7523G>A p.R2508H Missense 47/106 - 9
19-38991544-T-C c.7528T>C p.Y2510H Missense 47/106 - 1
19-38991553-G-A c.7537G>A p.E2513K Missense 47/106 - 1
19-38991562-G-A c.7546G>A p.D2516N Missense 47/106 - 1
19-38991600-C-A c.7584C>A p.P2528= Synonymous 47/106 - 1
19-38991600-C-G c.7584C>G p.P2528= Synonymous 47/106 - 1
19-38991600-C-T c.7584C>T p.P2528= Synonymous 47/106 - 1
19-38991601-G-A c.7585G>A p.D2529N Missense 47/106 - 1
19-38991629-C-T c.7613C>T p.T2538M Missense 47/106 - 1
19-38993179-G-A c.7647G>A p.A2549= Synonymous 48/106 - 1
19-38993179-G-C c.7647G>C p.A2549= Synonymous 48/106 - 1
19-38993179-G-T c.7647G>T p.A2549= Synonymous 48/106 - 1
19-38993186-C-A c.7654C>A p.R2552S Missense 48/106 - 1
19-38993204-G-A c.7672G>A p.V2558M Missense 48/106 - 1
19-38993231-C-T c.7699C>T p.P2567S Missense 48/106 - 1
19-38993232-C-T c.7700C>T p.P2567L Missense 48/106 - 1
19-38993241-C-T c.7709C>T p.A2570V Missense 48/106 - 1
19-38993268-T-C c.7736T>C p.V2579A Missense 48/106 - 1
19-38993268-T-G c.7736T>G p.V2579G Missense 48/106 - 1
19-38993269-G-A c.7737G>A p.V2579= Synonymous 48/106 - 1
19-38993269-G-C c.7737G>C p.V2579= Synonymous 48/106 - 1
19-38993269-G-T c.7737G>T p.V2579= Synonymous 48/106 - 1
19-38993279-C-T c.7747C>T p.L2583= Synonymous 48/106 - 1
19-38993281-G-A c.7749G>A p.L2583= Synonymous 48/106 - 1
19-38993281-G-C c.7749G>C p.L2583= Synonymous 48/106 - 1
19-38993281-G-T c.7749G>T p.L2583= Synonymous 48/106 - 1
19-38993287-C-T c.7755C>T p.T2585= Synonymous 48/106 - 1
19-38993288-G-A c.7756G>A p.V2586M Missense 48/106 - 1
19-38993301-C-T c.7769C>T p.S2590F Missense 48/106 - 1
19-38993304-G-A c.7772G>A p.R2591Q Missense 48/106 - 1
19-38993304-G-T c.7772G>T p.R2591L Missense 48/106 - 1
19-38993321-A-G c.7789A>G p.K2597E Missense 48/106 - 1
19-38993335-C-T c.7803C>T p.D2601= Synonymous 48/106 - 1
19-38993345-G-A c.7813G>A p.D2605N Missense 48/106 - 1
19-38993379-C-T c.7835+12C>T - IntronicSNV - 48/105 1
19-38993516-G-A c.7836-4G>A - IntronicSNV - 48/105 1
19-38993528-G-A c.7844G>A p.R2615H Missense 49/106 - 1
19-38993534-C-T c.7850C>T p.S2617L Missense 49/106 - 1
19-38993556-C-A c.7872C>A p.R2624= Synonymous 49/106 - 1
19-38993556-C-G c.7872C>G p.R2624= Synonymous 49/106 - 1
19-38993556-C-T c.7872C>T p.R2624= Synonymous 49/106 - 1
19-38993563-G-A c.7879G>A p.V2627M Missense 49/106 - 3
19-38993586-C-A c.7902C>A p.N2634K Missense 49/106 - 1
19-38994869-A-G c.7936A>G p.N2646D Missense 50/106 - 1
19-38994898-C-T c.7965C>T p.Y2655= Synonymous 50/106 - 1
19-38994909-C-T c.7976C>T p.T2659M Missense 50/106 - 1
19-38994910-G-A c.7977G>A p.T2659= Synonymous 50/106 - 2
19-38994910-G-C c.7977G>C p.T2659= Synonymous 50/106 - 2
19-38994910-G-T c.7977G>T p.T2659= Synonymous 50/106 - 2
19-38994924-T-A c.7991T>A p.F2664Y Missense 50/106 - 1
19-38994925-C-T c.7992C>T p.F2664= Synonymous 50/106 - 1
19-38994959-C-T c.8026C>T p.R2676W Missense 50/106 - 6
19-38994987-C-T c.8054C>T p.S2685F Missense 50/106 - 1
19-38995377-G-A c.8068-11G>A - IntronicSNV - 50/105 1
19-38995412-A-G c.8092A>G p.M2698V Missense 51/106 - 1
19-38995438-T-A c.8118T>A p.I2706= Synonymous 51/106 - 1
19-38995438-T-C c.8118T>C p.I2706= Synonymous 51/106 - 1
19-38995457-G-A c.8137G>A p.D2713N Missense 51/106 - 1
19-38995459-CTA-C c.8141_8142del p.Y2714Cfs*8 Frameshift 51/106 - 1
19-38995475-T-C c.8155T>C p.Y2719H Missense 51/106 - 1
19-38995499-G-A c.8179G>A p.A2727T Missense 51/106 - 1
19-38995509-A-G c.8189A>G p.D2730G Missense 51/106 - 2
19-38995510-T-C c.8190T>C p.D2730= Synonymous 51/106 - 1
19-38995597-G-A c.8231+46G>A - IntronicSNV - 51/105 1
19-38995692-T-C c.8281T>C p.Y2761H Missense 52/106 - 1
19-38995701-G-A c.8290G>A p.E2764K Missense 52/106 - 1
19-38995716-G-A c.8305G>A p.D2769N Missense 52/106 - 3
19-38995953-A-G c.8315A>G p.Q2772R Missense 53/106 - 1
19-38995965-C-T c.8327C>T p.S2776F Missense 53/106 - 3
19-38995975-G-A c.8337G>A p.E2779= Synonymous 53/106 - 1
19-38995978-CAT-C c.8342_8343del p.I2781Rfs*49 Frameshift 53/106 - 2
19-38995997-A-T c.8359A>T p.T2787S Missense 53/106 - 4
19-38995998-C-G c.8360C>G p.T2787S Missense 53/106 - 5
19-38996012-A-C c.8374A>C p.R2792= Synonymous 53/106 - 1
19-38996014-G-A c.8376G>A p.R2792= Synonymous 53/106 - 1
19-38996461-C-T c.8416C>T p.R2806C Missense 54/106 - 2
19-38996462-G-A c.8417G>A p.R2806H Missense 54/106 - 1
19-38996495-T-C c.8450T>C p.I2817T Missense 54/106 - 1
19-38996508-G-A c.8463G>A p.W2821* Nonsense 54/106 - 1
19-38996525-G-T c.8480G>T p.R2827M Missense 54/106 - 1
19-38996542-A-G c.8497A>G p.K2833E Missense 54/106 - 1
19-38996563-CGG-TGT c.8518_8520delinsTGT p.R2840C Missense 54/106 - 1
19-38996563-C-T c.8518C>T p.R2840W Missense 54/106 - 3
19-38996564-G-A c.8519G>A p.R2840Q Missense 54/106 - 1
19-38996572-TCA-GAC c.8527_8529delinsGAC p.S2843D Missense 54/106 - 2
19-38996572-T-G c.8527T>G p.S2843A Missense 54/106 - 2
19-38996575-C-T c.8530C>T p.Q2844* Nonsense 54/106 - 1
19-38996594-C-T c.8541+8C>T - IntronicSNV - 54/105 1
19-38996955-C-T c.8554C>T p.R2852* Nonsense 55/106 - 2
19-38996956-G-A c.8555G>A p.R2852Q Missense 55/106 - 1
19-38996990-T-C c.8589T>C p.S2863= Synonymous 55/106 - 3
19-38997024-G-A c.8616+7G>A - IntronicSNV - 55/105 1
19-38997117-G-A c.8623G>A p.A2875T Missense 56/106 - 1
19-38997148-C-G c.8654C>G p.T2885R Missense 56/106 - 1
19-38997156-C-T c.8662C>T p.R2888W Missense 56/106 - 1
19-38997317-G-A c.8692+131G>A - IntronicSNV - 56/105 1
19-38997505-C-T c.8729C>T p.T2910M Missense 57/106 - 1
19-38997526-C-T c.8750C>T p.A2917V Missense 57/106 - 1
19-38997528-C-G c.8752C>G p.R2918G Missense 57/106 - 1
19-38997534-C-T c.8758C>T p.R2920* Nonsense 57/106 - 1
19-38997582-G-A c.8806G>A p.A2936T Missense 57/106 - 1
19-38997592-G-A c.8816G>A p.R2939K Missense 57/106 - 4
19-38998362-G-A c.8827G>A p.D2943N Missense 58/106 - 3
19-38998378-TC-T c.8843del p.S2948Cfs*58 Frameshift 58/106 - 1
19-38998405-T-C c.8870T>C p.F2957S Missense 58/106 - 1
19-38998423-T-C c.8888T>C p.L2963P Missense 58/106 - 3
19-38998455-A-T c.8920A>T p.I2974F Missense 58/106 - 1
19-39001154-T-C c.8949T>C p.S2983= Synonymous 59/106 - 1
19-39001158-C-T c.8953C>T p.R2985* Nonsense 59/106 - 2
19-39001165-A-G c.8960A>G p.E2987G Missense 59/106 - 1
19-39001196-C-A c.8991C>A p.F2997L Missense 59/106 - 1
19-39001288-A-G c.9001-12A>G - IntronicSNV - 59/105 1
19-39001310-C-T c.9011C>T p.P3004L Missense 60/106 - 1
19-39001346-A-G c.9047A>G p.Y3016C Missense 60/106 - 1
19-39001362-G-A c.9063G>A p.P3021= Synonymous 60/106 - 1
19-39001369-G-A c.9070G>A p.V3024M Missense 60/106 - 1
19-39001380-C-T c.9081C>T p.S3027= Synonymous 60/106 - 1
19-39001411-A-G c.9112A>G p.M3038V Missense 60/106 - 1
19-39001420-A-G c.9121A>G p.S3041G Missense 60/106 - 1
19-39002223-C-T c.9145C>T p.L3049F Missense 61/106 - 1
19-39002226-G-A c.9148G>A p.V3050I Missense 61/106 - 1
19-39002229-C-T c.9151C>T p.R3051C Missense 61/106 - 1
19-39002230-G-A c.9152G>A p.R3051H Missense 61/106 - 2
19-39002235-C-T c.9157C>T p.R3053* Nonsense 61/106 - 2
19-39002238-GTCTC-G c.9166_9169del p.F3057Gfs*23 Frameshift 61/106 - 1
19-39002725-A-C c.9186A>C p.P3062= Synonymous 62/106 - 2
19-39002725-A-G c.9186A>G p.P3062= Synonymous 62/106 - 3
19-39002725-A-T c.9186A>T p.P3062= Synonymous 62/106 - 2
19-39002729-G-T c.9190G>T p.V3064L Missense 62/106 - 1
19-39002757-G-A c.9218G>A p.R3073H Missense 62/106 - 1
19-39002760-C-T c.9221C>T p.S3074F Missense 62/106 - 2
19-39002889-G-A c.9238G>A p.V3080M Missense 63/106 - 1
19-39002893-T-C c.9242T>C p.M3081T Missense 63/106 - 3
19-39002905-C-A c.9254C>A p.P3085H Missense 63/106 - 1
19-39002913-G-A c.9262G>A p.V3088M Missense 63/106 - 2
19-39002944-G-T c.9293G>T p.S3098I Missense 63/106 - 2
19-39002961-G-A c.9310G>A p.E3104K Missense 63/106 - 7
19-39002973-G-C c.9322G>C p.E3108Q Missense 63/106 - 1
19-39002983-G-A c.9332G>A p.R3111Q Missense 63/106 - 1
19-39002985-C-G c.9334C>G p.L3112V Missense 63/106 - 1
19-39002998-C-T c.9347C>T p.S3116L Missense 63/106 - 1
19-39003004-C-T c.9353C>T p.A3118V Missense 63/106 - 3
19-39003006-C-T c.9355C>T p.R3119C Missense 63/106 - 1
19-39003007-G-A c.9356G>A p.R3119H Missense 63/106 - 1
19-39003034-A-G c.9383A>G p.N3128S Missense 63/106 - 1
19-39003036-C-G c.9385C>G p.L3129V Missense 63/106 - 1
19-39003036-C-T c.9385C>T p.L3129F Missense 63/106 - 1
19-39003058-CT-C c.9407del p.L3136Rfs*75 Frameshift 63/106 - 2
19-39003064-C-T c.9413C>T p.P3138L Missense 63/106 - 1
19-39003076-C-T c.9425C>T p.T3142I Missense 63/106 - 1
19-39003103-A-G c.9452A>G p.Q3151R Missense 63/106 - 1
19-39003108-G-A c.9457G>A p.G3153R Missense 63/106 - 1
19-39003124-G-A c.9472+1G>A - IntronicSNV - 63/105 1
19-39005671-G-A c.9478G>A p.D3160N Missense 64/106 - 1
19-39005688-C-A c.9495C>A p.C3165* Nonsense 64/106 - 1
19-39005706-T-C c.9513T>C p.S3171= Synonymous 64/106 - 1
19-39005716-C-G c.9523C>G p.L3175V Missense 64/106 - 1
19-39005743-G-GA c.9554dup p.L3186Afs*125 SpliceDonorInsertion - - 1
19-39005848-A-G c.9554+101A>G - IntronicSNV - 64/105 1
19-39006731-C-T c.9559C>T p.R3187W Missense 65/106 - 1
19-39006751-C-G c.9579C>G p.C3193W Missense 65/106 - 1
19-39006777-C-T c.9605C>T p.P3202L Missense 65/106 - 1
19-39006795-C-T c.9623C>T p.P3208L Missense 65/106 - 1
19-39006806-G-A c.9634G>A p.E3212K Missense 65/106 - 1
19-39006807-A-G c.9635A>G p.E3212G Missense 65/106 - 1
19-39006813-A-G c.9641A>G p.N3214S Missense 65/106 - 1
19-39006821-T-C c.9649T>C p.S3217P Missense 65/106 - 2
19-39006824-G-A c.9652G>A p.V3218M Missense 65/106 - 1
19-39006830-A-G c.9658A>G p.T3220A Missense 65/106 - 1
19-39006848-G-C c.9676G>C p.E3226Q Missense 65/106 - 1
19-39006852-G-A c.9680G>A p.R3227Q Missense 65/106 - 1
19-39008011-C-T c.9698C>T p.P3233L Missense 66/106 - 1
19-39008026-A-G c.9713A>G p.E3238G Missense 66/106 - 1
19-39008029-T-A c.9716T>A p.M3239K Missense 66/106 - 3
19-39008040-CATCCCG-C c.9727_9732del p.I3243_P3244del InFrameDeletion 66/106 - 1
19-39008055-C-T c.9742C>T p.R3248W Missense 66/106 - 1
19-39008068-A-T c.9755A>T p.D3252V Missense 66/106 - 1
19-39008071-T-C c.9758T>C p.I3253T Missense 66/106 - 6
19-39008085-G-A c.9772G>A p.E3258K Missense 66/106 - 1
19-39008096-C-A c.9783C>A p.A3261= Synonymous 66/106 - 1
19-39008096-C-G c.9783C>G p.A3261= Synonymous 66/106 - 1
19-39008096-C-T c.9783C>T p.A3261= Synonymous 66/106 - 1
19-39008097-C-T c.9784C>T p.R3262C Missense 66/106 - 1
19-39008107-A-G c.9794A>G p.E3265G Missense 66/106 - 1
19-39008109-A-C c.9796A>C p.M3266L Missense 66/106 - 1
19-39008114-G-A c.9801G>A p.P3267= Synonymous 66/106 - 1
19-39008127-A-G c.9814A>G p.I3272V Missense 66/106 - 1
19-39008160-C-T c.9847C>T p.R3283* Nonsense 66/106 - 2
19-39008161-G-A c.9848G>A p.R3283Q Missense 66/106 - 2
19-39008164-G-A c.9851G>A p.W3284* Nonsense 66/106 - 1
19-39008162-ATGG-A c.9853_9855del p.W3285del InFrameDeletion 66/106 - 1
19-39008172-C-T c.9859C>T p.R3287C Missense 66/106 - 1
19-39008184-G-A c.9871G>A p.A3291T Missense 66/106 - 1
19-39008199-C-G c.9886C>G p.L3296V Missense 66/106 - 1
19-39008205-G-A c.9892G>A p.A3298T Missense 66/106 - 2
19-39008209-G-T c.9896G>T p.G3299V Missense 66/106 - 1
19-39008225-C-A c.9912C>A p.C3304* Nonsense 66/106 - 1
19-39008229-G-A c.9916G>A p.A3306T Missense 66/106 - 1
19-39008254-C-G c.9941C>G p.S3314C Missense 66/106 - 1
19-39008287-A-G c.9974A>G p.N3325S Missense 66/106 - 1
19-39008304-G-A c.9991G>A p.E3331K Missense 66/106 - 1
19-39008307-G-A c.9994G>A p.A3332T Missense 66/106 - 1
19-39008331-G-A c.10018G>A p.V3340M Missense 66/106 - 1
19-39009854-T-C c.10019T>C p.V3340A Missense 67/106 - 1
19-39009877-C-T c.10042C>T p.R3348C Missense 67/106 - 2
19-39009878-G-A c.10043G>A p.R3348H Missense 67/106 - 1
19-39009883-C-A c.10048C>A p.R3350= Synonymous 67/106 - 1
19-39009885-G-A c.10050G>A p.R3350= Synonymous 67/106 - 1
19-39009885-G-C c.10050G>C p.R3350= Synonymous 67/106 - 1
19-39009885-G-T c.10050G>T p.R3350= Synonymous 67/106 - 1
19-39009886-C-A c.10051C>A p.P3351T Missense 67/106 - 1
19-39009906-C-A c.10071C>A p.H3357Q Missense 67/106 - 1
19-39009922-G-A c.10087G>A p.G3363R Missense 67/106 - 2
19-39009922-G-C c.10087G>C p.G3363R Missense 67/106 - 1
19-39009931-C-T c.10096C>T p.R3366C Missense 67/106 - 1
19-39009932-G-A c.10097G>A p.R3366H Missense 67/106 - 13
19-39009940-G-T c.10105G>T p.A3369S Missense 67/106 - 1
19-39009954-G-A c.10119G>A p.V3373= Synonymous 67/106 - 1
19-39009954-G-C c.10119G>C p.V3373= Synonymous 67/106 - 1
19-39009954-G-T c.10119G>T p.V3373= Synonymous 67/106 - 1
19-39010002-G-C c.10167G>C p.E3389D Missense 67/106 - 1
19-39010006-G-A c.10171G>A p.E3391K Missense 67/106 - 1
19-39010009-C-G c.10174C>G p.L3392V Missense 67/106 - 1
19-39010021-G-T c.10186G>T p.D3396Y Missense 67/106 - 1
19-39010024-G-A c.10189G>A p.E3397K Missense 67/106 - 1
19-39010039-T-G c.10204T>G p.C3402G Missense 67/106 - 1
19-39010042-C-T c.10207C>T p.R3403W Missense 67/106 - 1
19-39010054-G-A c.10219G>A p.A3407T Missense 67/106 - 1
19-39010054-G-T c.10219G>T p.A3407S Missense 67/106 - 1
19-39010075-C-T c.10240C>T p.R3414C Missense 67/106 - 1
19-39010087-A-G c.10252A>G p.N3418D Missense 67/106 - 1
19-39010090-A-G c.10255A>G p.N3419D Missense 67/106 - 1
19-39010101-G-A c.10259+7G>A - IntronicSNV - 67/105 1
19-39013699-G-A c.10291G>A p.A3431T Missense 68/106 - 1
19-39013700-C-T c.10292C>T p.A3431V Missense 68/106 - 2
19-39013756-G-A c.10347+1G>A - IntronicSNV - 68/105 2
19-39013866-C-T c.10357C>T p.R3453C Missense 69/106 - 1
19-39013937-C-T c.10428C>T p.S3476= Synonymous 69/106 - 1
19-39014184-T-C c.10440+235T>C - IntronicSNV - 69/105 1
19-39014565-T-A c.10451T>A p.I3484K Missense 70/106 - 1
19-39014565-T-C c.10451T>C p.I3484T Missense 70/106 - 1
19-39014570-G-A c.10455+1G>A - IntronicSNV - 70/105 1
19-39015987-C-T c.10471C>T p.Q3491* Nonsense 71/106 - 1
19-39015994-G-A c.10478G>A p.R3493H Missense 71/106 - 1
19-39015997-C-A c.10481C>A p.T3494N Missense 71/106 - 1
19-39016001-G-C c.10485G>C p.K3495N Missense 71/106 - 1
19-39016002-A-G c.10486A>G p.K3496E Missense 71/106 - 1
19-39016008-C-G c.10492C>G p.R3498G Missense 71/106 - 1
19-39016012-G-A c.10496G>A p.R3499Q Missense 71/106 - 1
19-39016021-G-A c.10505G>A p.R3502Q Missense 71/106 - 1
19-39016023-T-C c.10507T>C p.Y3503H Missense 71/106 - 1
19-39016027-C-T c.10511C>T p.S3504F Missense 71/106 - 1
19-39016032-C-A c.10516C>A p.Q3506K Missense 71/106 - 1
19-39016033-A-G c.10517A>G p.Q3506R Missense 71/106 - 1
19-39016042-T-C c.10526T>C p.L3509P Missense 71/106 - 1
19-39016047-G-A c.10531G>A p.V3511M Missense 71/106 - 1
19-39016053-A-G c.10537A>G p.T3513A Missense 71/106 - 1
19-39016057-TGAA-T c.10547_10549del p.K3516del InFrameDeletion 71/106 - 1
19-39016077-G-T c.10561G>T p.G3521C Missense 71/106 - 1
19-39016095-C-T c.10579C>T p.P3527S Missense 71/106 - 6
19-39016100-C-T c.10584C>T p.T3528= Synonymous 71/106 - 1
19-39016109-C-G c.10593C>G p.D3531E Missense 71/106 - 1
19-39016131-C-T c.10615C>T p.R3539C Missense 71/106 - 1
19-39016132-G-A c.10616G>A p.R3539H Missense 71/106 - 10
19-39016135-A-T c.10619A>T p.Y3540F Missense 71/106 - 1
19-39016138-C-A c.10622C>A p.A3541D Missense 71/106 - 1
19-39017654-C-T c.10648C>T p.R3550W Missense 72/106 - 1
19-39017668-C-G c.10662C>G p.H3554Q Missense 72/106 - 1
19-39017670-A-T c.10664A>T p.N3555I Missense 72/106 - 1
19-39017680-C-G c.10674C>G p.H3558Q Missense 72/106 - 1
19-39017687-G-A c.10681G>A p.G3561R Missense 72/106 - 1
19-39018329-C-T c.10729C>T p.R3577W Missense 73/106 - 2
19-39018347-G-C c.10747G>C p.E3583Q Missense 73/106 - 10
19-39018360-A-G c.10760A>G p.D3587G Missense 73/106 - 1
19-39018368-G-A c.10768G>A p.E3590K Missense 73/106 - 1
19-39018407-C-T c.10807C>T p.L3603F Missense 73/106 - 1
19-39018416-CTG-TTT c.10816_10818delinsTTT p.L3606F Missense 73/106 - 1
19-39018417-T-C c.10817T>C p.L3606P Missense 73/106 - 1
19-39018421-C-G c.10821C>G p.D3607E Missense 73/106 - 1
19-39018973-G-A c.10852G>A p.A3618T Missense 74/106 - 1
19-39019006-C-T c.10885C>T p.R3629W Missense 74/106 - 1
19-39019242-C-A c.10941C>A p.H3647Q Missense 75/106 - 1
19-39019242-C-G c.10941C>G p.H3647Q Missense 75/106 - 3
19-39019247-C-T c.10946C>T p.A3649V Missense 75/106 - 1
19-39019255-A-G c.10954A>G p.M3652V Missense 75/106 - 1
19-39019259-TC-T c.10960del p.L3654Wfs*10 Frameshift 75/106 - 1
19-39019315-C-A c.11014C>A p.R3672S Missense 75/106 - 1
19-39019316-G-A c.11015G>A p.R3672H Missense 75/106 - 1
19-39019603-CAGG-C c.11061_11063del p.E3689del InFrameDeletion 76/106 - 2
19-39019666-C-T c.11110C>T p.H3704Y Missense 76/106 - 1
19-39019676-G-A c.11120G>A p.R3707H Missense 76/106 - 1
19-39019682-C-T c.11126C>T p.A3709V Missense 76/106 - 1
19-39019688-C-G c.11132C>G p.T3711R Missense 76/106 - 2
19-39019688-C-T c.11132C>T p.T3711M Missense 76/106 - 1
19-39019691-A-G c.11135A>G p.E3712G Missense 76/106 - 1
19-39023315-G-A c.11198G>A p.C3733Y Missense 78/106 - 1
19-39023320-C-A c.11203C>A p.L3735M Missense 78/106 - 1
19-39025366-C-G c.11266C>G p.Q3756E Missense 79/106 - 4
19-39025369-A-G c.11269A>G p.M3757V Missense 79/106 - 1
19-39025374-G-A c.11274G>A p.E3758= Synonymous 79/106 - 1
19-39025399-G-A c.11299G>A p.A3767T Missense 79/106 - 1
19-39025402-C-T c.11302C>T p.R3768W Missense 79/106 - 1
19-39025414-C-T c.11314C>T p.R3772W Missense 79/106 - 7
19-39025415-G-A c.11315G>A p.R3772Q Missense 79/106 - 8
19-39025421-C-T c.11321C>T p.A3774V Missense 79/106 - 3
19-39025451-C-T c.11351C>T p.A3784V Missense 79/106 - 1
19-39025847-C-T c.11426C>T p.A3809V Missense 80/106 - 1
19-39025959-A-T c.11443A>T p.M3815L Missense 81/106 - 1
19-39025966-A-T c.11450A>T p.D3817V Missense 81/106 - 1
19-39025982-G-C c.11466G>C p.K3822N Missense 81/106 - 1
19-39025982-G-T c.11466G>T p.K3822N Missense 81/106 - 1
19-39025993-G-T c.11477G>T p.G3826V Missense 81/106 - 1
19-39025994-C-T c.11478C>T p.G3826= Synonymous 81/106 - 1
19-39026638-G-A c.11518G>A p.V3840I Missense 82/106 - 2
19-39026650-A-C c.11530A>C p.N3844H Missense 82/106 - 1
19-39026659-G-C c.11539G>C p.E3847Q Missense 82/106 - 1
19-39026661-G-C c.11541G>C p.E3847D Missense 82/106 - 1
19-39026661-G-T c.11541G>T p.E3847D Missense 82/106 - 1
19-39026667-G-A c.11547G>A p.Q3849= Synonymous 82/106 - 2
19-39026677-G-A c.11557G>A p.E3853K Missense 82/106 - 4
19-39026784-G-C c.11590+74G>C - IntronicSNV - 82/105 1
19-39027398-C-T c.11599C>T p.R3867C Missense 83/106 - 1
19-39027405-A-G c.11606A>G p.N3869S Missense 83/106 - 1
19-39028562-T-C c.11651T>C p.F3884S Missense 84/106 - 1
19-39028564-C-T c.11653C>T p.R3885* Nonsense 84/106 - 1
19-39028573-C-T c.11662C>T p.Q3888* Nonsense 84/106 - 1
19-39034005-G-A c.11708G>A p.R3903Q Missense 85/106 - 6
19-39034020-A-T c.11723A>T p.N3908I Missense 85/106 - 2
19-39034023-C-T c.11726C>T p.T3909M Missense 85/106 - 1
19-39034045-T-G c.11748T>G p.I3916M Missense 85/106 - 1
19-39034060-C-A c.11763C>A p.Y3921* Nonsense 85/106 - 1
19-39034075-G-A c.11778G>A p.Q3926= Synonymous 85/106 - 1
19-39034181-A-T c.11788A>T p.S3930C Missense 86/106 - 1
19-39034186-C-G c.11793C>G p.D3931E Missense 86/106 - 1
19-39034191-A-G c.11798A>G p.Y3933C Missense 86/106 - 14
19-39034206-G-A c.11813G>A p.G3938D Missense 86/106 - 2
19-39034230-G-A c.11837G>A p.G3946D Missense 86/106 - 1
19-39034286-A-C c.11893A>C p.T3965P Missense 86/106 - 1
19-39034298-C-A c.11905C>A p.Q3969K Missense 86/106 - 1
19-39034429-C-T c.11926C>T p.Q3976* Nonsense 87/106 - 1
19-39034444-C-T c.11941C>T p.H3981Y Missense 87/106 - 5
19-39034450-C-T c.11947C>T p.R3983C Missense 87/106 - 2
19-39034451-G-A c.11948G>A p.R3983H Missense 87/106 - 1
19-39034456-T-A c.11953T>A p.W3985R Missense 87/106 - 2
19-39034456-T-C c.11953T>C p.W3985R Missense 87/106 - 2
19-39034461-C-A c.11958C>A p.D3986E Missense 87/106 - 1
19-39034461-C-G c.11958C>G p.D3986E Missense 87/106 - 7
19-39034472-G-T c.11969G>T p.G3990V Missense 87/106 - 7
19-39034494-CATG-C c.11999_12001del p.M4000del InFrameDeletion 87/106 - 2
19-39034534-T-C c.12012+19T>C - IntronicSNV - 87/105 1
19-39037074-G-A c.12013-11G>A - IntronicSNV - 87/105 1
19-39037100-G-A c.12028G>A p.E4010K Missense 88/106 - 1
19-39037135-AC-A c.12063del p.D4021Efs*4 Frameshift 88/106 - 1
19-39037155-C-T c.12083C>T p.S4028L Missense 88/106 - 5
19-39038884-A-G c.12106A>G p.N4036D Missense 89/106 - 1
19-39038886-CG-C c.12110del p.G4037Afs*2 Frameshift 89/106 - 1
19-39038899-C-T c.12121C>T p.R4041W Missense 89/106 - 1
19-39038908-G-C c.12130G>C p.V4044L Missense 89/106 - 1
19-39038914-A-G c.12136A>G p.M4046V Missense 89/106 - 1
19-39038927-C-A c.12149C>A p.S4050Y Missense 89/106 - 1
19-39038955-G-C c.12177G>C p.K4059N Missense 89/106 - 1
19-39038955-G-T c.12177G>T p.K4059N Missense 89/106 - 1
19-39038965-A-G c.12187A>G p.M4063V Missense 89/106 - 1
19-39038981-A-G c.12203A>G p.K4068R Missense 89/106 - 1
19-39038992-G-T c.12214G>T p.G4072C Missense 89/106 - 1
19-39039020-C-T c.12242C>T p.T4081M Missense 89/106 - 2
19-39039028-C-T c.12250C>T p.R4084C Missense 89/106 - 1
19-39039059-AGGTG-A c.12282+4_12282+7del - SpliceDonorDeletion - 89/105 1
19-39050479-G-A c.12283-1274G>A - IntronicSNV - 89/105 1
19-39050479-G-C c.12283-1274G>C - IntronicSNV - 89/105 1
19-39051781-GTCCAGAAATCCAGT-G c.12315_12328del p.E4106Afs*8 Frameshift 90/106 - 1
19-39051792-C-G c.12322C>G p.Q4108E Missense 90/106 - 1
19-39051805-C-T c.12335C>T p.S4112L Missense 90/106 - 2
19-39051813-G-A c.12343G>A p.E4115K Missense 90/106 - 1
19-39051844-GAAGAGTTCGCCAACCGCTTCCA-G c.12374_12395del p.E4125Gfs*15 Frameshift 90/106 - 1
19-39051868-A-G c.12398A>G p.E4133G Missense 90/106 - 1
19-39051873-G-T c.12403G>T p.A4135S Missense 90/106 - 1
19-39051876-C-A c.12406C>A p.R4136S Missense 90/106 - 1
19-39051883-T-C c.12413T>C p.I4138T Missense 90/106 - 1
19-39051898-C-T c.12428C>T p.A4143V Missense 90/106 - 2
19-39051919-C-G c.12449C>G p.S4150W Missense 90/106 - 1
19-39051932-G-A c.12462G>A p.P4154= Synonymous 90/106 - 1
19-39051969-G-A c.12499G>A p.E4167K Missense 90/106 - 1
19-39051969-G-T c.12499G>T p.E4167* Nonsense 90/106 - 2
19-39051978-CT-AG c.12508_12509inv p.L4170S Missense 90/106 - 1
19-39052002-G-A c.12532G>A p.G4178S Missense 90/106 - 1
19-39052003-G-T c.12533G>T p.G4178V Missense 90/106 - 1
19-39052006-G-A c.12536G>A p.R4179H Missense 90/106 - 2
19-39052011-G-A c.12541G>A p.E4181K Missense 90/106 - 1
19-39052023-G-A c.12553G>A p.A4185T Missense 90/106 - 4
19-39052050-T-C c.12580T>C p.F4194L Missense 90/106 - 1
19-39052069-A-G c.12599A>G p.N4200S Missense 90/106 - 1
19-39052082-G-A c.12612G>A p.W4204* Nonsense 90/106 - 1
19-39055603-A-G c.12629A>G p.K4210R Missense 91/106 - 2
19-39055608-T-G c.12634T>G p.S4212A Missense 91/106 - 1
19-39055663-T-G c.12689T>G p.M4230R Missense 91/106 - 2
19-39055674-G-C c.12700G>C p.V4234L Missense 91/106 - 5
19-39055674-G-T c.12700G>T p.V4234L Missense 91/106 - 5
19-39055751-CGACGAG-C c.12785_12790del p.D4262_E4263del InFrameDeletion 91/106 - 1
19-39055761-G-A c.12787G>A p.E4263K Missense 91/106 - 1
19-39055762-AGGGCGC-A c.12797_12802del p.G4266_A4267del InFrameDeletion 91/106 - 1
19-39055771-G-A c.12797G>A p.G4266D Missense 91/106 - 1
19-39055774-C-T c.12800C>T p.A4267V Missense 91/106 - 1
19-39055783-C-A c.12809C>A p.A4270E Missense 91/106 - 1
19-39055809-G-A c.12835G>A p.A4279T Missense 91/106 - 1
19-39055813-C-T c.12839C>T p.A4280V Missense 91/106 - 1
19-39055818-C-G c.12844C>G p.L4282V Missense 91/106 - 1
19-39055821-G-A c.12847G>A p.E4283K Missense 91/106 - 1
19-39055824-G-C c.12850G>C p.G4284R Missense 91/106 - 1
19-39055834-C-T c.12860C>T p.A4287V Missense 91/106 - 1
19-39055825-GCACGGCGGC-G c.12861_12869del p.T4288_A4290del InFrameDeletion 91/106 - 1
19-39055843-C-T c.12869C>T p.A4290V Missense 91/106 - 1
19-39055844-G-GACAGCAGCA c.12870_12871insACAGCAGCA p.T4288_A4290dup InFrameInsertion 91/106 - 1
19-39055852-C-T c.12878C>T p.A4293V Missense 91/106 - 1
19-39055853-G-A c.12879G>A p.A4293= Synonymous 91/106 - 1
19-39055853-G-C c.12879G>C p.A4293= Synonymous 91/106 - 1
19-39055853-G-T c.12879G>T p.A4293= Synonymous 91/106 - 1
19-39055854-A-G c.12880A>G p.T4294A Missense 91/106 - 3
19-39055855-C-T c.12881C>T p.T4294M Missense 91/106 - 2
19-39055858-C-T c.12884C>T p.A4295V Missense 91/106 - 4
19-39055860-C-T c.12886C>T p.R4296W Missense 91/106 - 1
19-39055881-C-G c.12907C>G p.R4303G Missense 91/106 - 1
19-39055926-C-G c.12952C>G p.R4318G Missense 91/106 - 1
19-39055930-G-A c.12956G>A p.R4319Q Missense 91/106 - 1
19-39055923-GTGCGGCGGC-G c.12960_12968del p.R4321_L4323del InFrameDeletion 91/106 - 2
19-39055936-G-T c.12962G>T p.R4321L Missense 91/106 - 1
19-39055938-C-CGGCTTAGGA c.12970_12971insGGAGGCTTA p.R4321_L4323dup InFrameInsertion 91/106 - 1
19-39055960-C-A c.12986C>A p.A4329D Missense 91/106 - 5
19-39055963-C-T c.12989C>T p.T4330I Missense 91/106 - 1
19-39055965-G-A c.12991G>A p.A4331T Missense 91/106 - 1
19-39055966-C-A c.12992C>A p.A4331E Missense 91/106 - 1
19-39055996-C-T c.13022C>T p.T4341M Missense 91/106 - 1
19-39056001-G-A c.13027G>A p.A4343T Missense 91/106 - 1
19-39056004-G-A c.13030G>A p.G4344R Missense 91/106 - 1
19-39056008-C-A c.13034C>A p.A4345D Missense 91/106 - 1
19-39056008-CC-AG c.13034_13035delinsAG p.A4345E Missense 91/106 - 1
19-39056067-G-A c.13093G>A p.G4365S Missense 91/106 - 1
19-39056154-G-A c.13180G>A p.E4394K Missense 91/106 - 1
19-39056210-T-TAGCGAGGGTGCA c.13236_13237insAGCGAGGGTGCA p.S4409_A4412dup InFrameInsertion 91/106 - 1
19-39056233-G-T c.13259G>T p.G4420V Missense 91/106 - 1
19-39056235-G-A c.13261G>A p.D4421N Missense 91/106 - 1
19-39056253-C-T c.13279C>T p.H4427Y Missense 91/106 - 1
19-39056298-G-A c.13324G>A p.D4442N Missense 91/106 - 1
19-39056305-GC-G c.13335del p.F4446Sfs*105 Frameshift 91/106 - 1
19-39056343-A-T c.13369A>T p.M4457L Missense 91/106 - 1
19-39056353-C-T c.13379C>T p.T4460M Missense 91/106 - 1
19-39056362-C-T c.13388C>T p.A4463V Missense 91/106 - 1
19-39057554-G-T c.13441G>T p.D4481Y Missense 92/106 - 1
19-39057566-G-A c.13453G>A p.E4485K Missense 92/106 - 1
19-39057576-C-T c.13463C>T p.P4488L Missense 92/106 - 1
19-39057581-G-A c.13468G>A p.E4490K Missense 92/106 - 1
19-39057590-C-G c.13477C>G p.P4493A Missense 92/106 - 1
19-39057596-C-T c.13483C>T p.P4495S Missense 92/106 - 1
19-39057597-C-T c.13484C>T p.P4495L Missense 92/106 - 4
19-39057598-G-A c.13485G>A p.P4495= Synonymous 92/106 - 1
19-39057598-G-C c.13485G>C p.P4495= Synonymous 92/106 - 1
19-39057598-G-T c.13485G>T p.P4495= Synonymous 92/106 - 1
19-39057611-G-A c.13498G>A p.E4500K Missense 92/106 - 1
19-39057615-C-T c.13502C>T p.P4501L Missense 92/106 - 4
19-39057618-A-G c.13505A>G p.E4502G Missense 92/106 - 3
19-39057626-G-C c.13513G>C p.D4505H Missense 92/106 - 12
19-39058441-C-T c.13543C>T p.P4515S Missense 93/106 - 1
19-39058445-A-G c.13547A>G p.E4516G Missense 93/106 - 1
19-39058463-C-T c.13565C>T p.P4522L Missense 93/106 - 1
19-39058515-C-T c.13617C>T p.G4539= Synonymous 93/106 - 1
19-39058537-G-A c.13639G>A p.V4547M Missense 93/106 - 1
19-39061252-C-A c.13665C>A p.Y4555* Nonsense 94/106 - 1
19-39061252-C-G c.13665C>G p.Y4555* Nonsense 94/106 - 1
19-39061259-C-T c.13672C>T p.R4558W Missense 94/106 - 2
19-39061260-G-A c.13673G>A p.R4558Q Missense 94/106 - 4
19-39061267-T-C c.13680T>C p.F4560= Synonymous 94/106 - 1
19-39061278-G-A c.13691G>A p.R4564Q Missense 94/106 - 2
19-39061290-T-C c.13703T>C p.L4568P Missense 94/106 - 1
19-39061311-A-C c.13724A>C p.N4575T Missense 94/106 - 3
19-39062678-G-A c.13766G>A p.G4589E Missense 95/106 - 1
19-39062695-G-T c.13783G>T p.G4595C Missense 95/106 - 1
19-39062696-G-C c.13784G>C p.G4595A Missense 95/106 - 1
19-39062718-A-C c.13806A>C p.S4602= Synonymous 95/106 - 1
19-39062718-A-G c.13806A>G p.S4602= Synonymous 95/106 - 1
19-39062718-A-T c.13806A>T p.S4602= Synonymous 95/106 - 1
19-39062726-G-C c.13814G>C p.G4605A Missense 95/106 - 1
19-39062759-C-A c.13847C>A p.A4616D Missense 95/106 - 1
19-39062797-G-A c.13885G>A p.V4629M Missense 95/106 - 1
19-39062821-A-G c.13909A>G p.T4637A Missense 95/106 - 2
19-39062822-C-T c.13910C>T p.T4637I Missense 95/106 - 3
19-39062830-A-G c.13918A>G p.M4640V Missense 95/106 - 1
19-39062831-T-G c.13919T>G p.M4640R Missense 95/106 - 2
19-39062832-G-A c.13920G>A p.M4640I Missense 95/106 - 1
19-39062845-C-T c.13933C>T p.R4645W Missense 95/106 - 1
19-39062846-G-A c.13934G>A p.R4645Q Missense 95/106 - 2
19-39062852-T-C c.13940T>C p.L4647P Missense 95/106 - 1
19-39062861-T-C c.13949T>C p.L4650P Missense 95/106 - 1
19-39062864-A-G c.13952A>G p.H4651R Missense 95/106 - 2
19-39062902-T-C c.13990T>C p.C4664R Missense 95/106 - 2
19-39063821-C-G c.14003C>G p.P4668R Missense 96/106 - 1
19-39063838-C-T c.14020C>T p.R4674W Missense 96/106 - 1
19-39063862-C-T c.14044C>T p.L4682= Synonymous 96/106 - 1
19-39063864-G-A c.14046G>A p.L4682= Synonymous 96/106 - 1
19-39063864-G-C c.14046G>C p.L4682= Synonymous 96/106 - 1
19-39063864-G-T c.14046G>T p.L4682= Synonymous 96/106 - 1
19-39063879-G-A c.14061G>A p.L4687= Synonymous 96/106 - 1
19-39063884-T-A c.14066T>A p.I4689N Missense 96/106 - 1
19-39063898-G-A c.14080G>A p.E4694K Missense 96/106 - 1
19-39063928-C-T c.14110C>T p.R4704* Nonsense 96/106 - 1
19-39063944-C-T c.14126C>T p.T4709M Missense 96/106 - 9
19-39063947-C-T c.14129C>T p.P4710L Missense 96/106 - 1
19-39066570-G-A c.14141G>A p.S4714N Missense 97/106 - 1
19-39066596-C-T c.14167C>T p.R4723C Missense 97/106 - 1
19-39066597-G-A c.14168G>A p.R4723H Missense 97/106 - 1
19-39066599-A-C c.14170A>C p.K4724Q Missense 97/106 - 1
19-39068582-T-C c.14197T>C p.Y4733H Missense 98/106 - 1
19-39068588-CG-GA c.14203_14204delinsGA p.R4735E Missense 98/106 - 1
19-39068589-G-A c.14204G>A p.R4735Q Missense 98/106 - 1
19-39068590-G-A c.14205G>A p.R4735= Synonymous 98/106 - 1
19-39068594-C-T c.14209C>T p.R4737W Missense 98/106 - 3
19-39068595-G-A c.14210G>A p.R4737Q Missense 98/106 - 8
19-39068641-A-C c.14256A>C p.T4752= Synonymous 98/106 - 1
19-39068642-G-A c.14257G>A p.A4753T Missense 98/106 - 1
19-39068645-C-T c.14260C>T p.H4754Y Missense 98/106 - 1
19-39068655-G-A c.14270G>A p.R4757H Missense 98/106 - 2
19-39068667-C-A c.14282C>A p.P4761Q Missense 98/106 - 2
19-39068667-C-T c.14282C>T p.P4761L Missense 98/106 - 1
19-39068824-G-A c.14344G>A p.G4782R Missense 99/106 - 6
19-39068824-G-C c.14344G>C p.G4782R Missense 99/106 - 1
19-39070643-T-C c.14386T>C p.Y4796H Missense 100/106 - 1
19-39070644-A-G c.14387A>G p.Y4796C Missense 100/106 - 8
19-39070668-A-C c.14411A>C p.H4804P Missense 100/106 - 1
19-39070671-A-G c.14414A>G p.Y4805C Missense 100/106 - 1
19-39070676-AA-TT c.14419_14420inv p.N4807F Missense 100/106 - 1
19-39070676-A-G c.14419A>G p.N4807D Missense 100/106 - 1
19-39070676-A-T c.14419A>T p.N4807Y Missense 100/106 - 1
19-39070677-A-G c.14420A>G p.N4807S Missense 100/106 - 1
19-39070677-A-T c.14420A>T p.N4807I Missense 100/106 - 1
19-39070679-TT-AA c.14422_14423inv p.F4808N Missense 100/106 - 2
19-39070681-C-A c.14424C>A p.F4808L Missense 100/106 - 2
19-39070703-G-A c.14446G>A p.D4816N Missense 100/106 - 1
19-39070704-A-G c.14447A>G p.D4816G Missense 100/106 - 1
19-39070706-A-G c.14449A>G p.I4817V Missense 100/106 - 1
19-39070715-G-A c.14458G>A p.G4820R Missense 100/106 - 3
19-39070715-G-C c.14458G>C p.G4820R Missense 100/106 - 1
19-39070725-C-T c.14468C>T p.T4823M Missense 100/106 - 2
19-39070728-T-C c.14471T>C p.L4824P Missense 100/106 - 2
19-39070730-C-T c.14473C>T p.R4825C Missense 100/106 - 3
19-39070731-G-A c.14474G>A p.R4825H Missense 100/106 - 1
19-39070734-C-T c.14477C>T p.T4826I Missense 100/106 - 28
19-39070740-T-G c.14483T>G p.L4828R Missense 100/106 - 2
19-39070744-C-T c.14487C>T p.S4829= Synonymous 100/106 - 1
19-39070754-C-T c.14497C>T p.H4833Y Missense 100/106 - 10
19-39070757-A-T c.14500A>T p.N4834Y Missense 100/106 - 1
19-39070762-G-A c.14505G>A p.G4835= Synonymous 100/106 - 2
19-39070762-G-C c.14505G>C p.G4835= Synonymous 100/106 - 2
19-39070762-G-T c.14505G>T p.G4835= Synonymous 100/106 - 2
19-39070766-C-G c.14509C>G p.Q4837E Missense 100/106 - 2
19-39070767-CA-C c.14510del p.Q4837Rfs*3 Frameshift 100/106 - 3
19-39071010-C-G c.14512C>G p.L4838V Missense 101/106 - 7
19-39071017-T-G c.14519T>G p.M4840R Missense 101/106 - 1
19-39071019-A-G c.14521A>G p.T4841A Missense 101/106 - 1
19-39071022-G-A c.14524G>A p.V4842M Missense 101/106 - 5
19-39071035-C-T c.14537C>T p.A4846V Missense 101/106 - 3
19-39071037-G-C c.14539G>C p.V4847L Missense 101/106 - 1
19-39071037-G-T c.14539G>T p.V4847L Missense 101/106 - 1
19-39071043-G-A c.14545G>A p.V4849I Missense 101/106 - 17
19-39071056-C-T c.14558C>T p.T4853I Missense 101/106 - 3
19-39071067-T-C c.14569T>C p.F4857L Missense 101/106 - 1
19-39071068-T-C c.14570T>C p.F4857S Missense 101/106 - 1
19-39071079-C-T c.14581C>T p.R4861C Missense 101/106 - 7
19-39071080-G-A c.14582G>A p.R4861H Missense 101/106 - 23
19-39071088-T-C c.14590T>C p.Y4864H Missense 101/106 - 4
19-39071089-A-G c.14591A>G p.Y4864C Missense 101/106 - 2
19-39071094-A-C c.14596A>C p.K4866Q Missense 101/106 - 1
19-39071105-T-G c.14607T>G p.D4869E Missense 101/106 - 1
19-39071113-A-C c.14615A>C p.E4872A Missense 101/106 - 1
19-39071121-A-G c.14623A>G p.M4875V Missense 101/106 - 2
19-39071122-T-C c.14624T>C p.M4875T Missense 101/106 - 1
19-39071125-A-G c.14627A>G p.K4876R Missense 101/106 - 2
19-39071143-C-T c.14645C>T p.T4882M Missense 101/106 - 4
19-39073707-C-T c.14647-1876C>T - IntronicSNV - 101/105 1
19-39075583-T-G c.14647T>G p.C4883G Missense 102/106 - 1
19-39075595-C-T c.14659C>T p.H4887Y Missense 102/106 - 1
19-39075613-C-T c.14677C>T p.R4893W Missense 102/106 - 5
19-39075614-G-A c.14678G>A p.R4893Q Missense 102/106 - 8
19-39075614-G-C c.14678G>C p.R4893P Missense 102/106 - 1
19-39075616-G-A c.14680G>A p.A4894T Missense 102/106 - 2
19-39075616-G-C c.14680G>C p.A4894P Missense 102/106 - 2
19-39075617-C-A c.14681C>A p.A4894D Missense 102/106 - 4
19-39075617-C-T c.14681C>T p.A4894V Missense 102/106 - 1
19-39075623-G-T c.14687G>T p.G4896V Missense 102/106 - 1
19-39075626-G-A c.14690G>A p.G4897D Missense 102/106 - 2
19-39075626-G-T c.14690G>T p.G4897V Missense 102/106 - 3
19-39075629-T-A c.14693T>A p.I4898N Missense 102/106 - 1
19-39075629-T-C c.14693T>C p.I4898T Missense 102/106 - 41
19-39075631-G-A c.14695G>A p.G4899R Missense 102/106 - 1
19-39075632-G-A c.14696G>A p.G4899E Missense 102/106 - 1
19-39075636-C-T c.14700C>T p.D4900= Synonymous 102/106 - 1
19-39075637-G-A c.14701G>A p.E4901K Missense 102/106 - 1
19-39075643-G-A c.14707G>A p.E4903K Missense 102/106 - 1
19-39075653-C-G c.14717C>G p.A4906G Missense 102/106 - 1
19-39075653-C-T c.14717C>T p.A4906V Missense 102/106 - 2
19-39075667-G-A c.14731G>A p.E4911K Missense 102/106 - 4
19-39075667-G-T c.14731G>T p.E4911* Nonsense 102/106 - 1
19-39075677-G-C c.14741G>C p.R4914T Missense 102/106 - 3
19-39075677-G-T c.14741G>T p.R4914M Missense 102/106 - 1
19-39075688-G-A c.14752G>A p.D4918N Missense 102/106 - 2
19-39075695-C-A c.14759C>A p.T4920N Missense 102/106 - 1
19-39075697-TT-AC c.14761_14762delinsAC p.F4921T Missense 102/106 - 1
19-39075698-T-C c.14762T>C p.F4921S Missense 102/106 - 1
19-39075699-C-G c.14763C>G p.F4921L Missense 102/106 - 4
19-39075695-CCTTCTT-C c.14767_14772del p.F4923_F4924del InFrameDeletion 102/106 - 1
19-39075695-CCTT-C c.14770_14772del p.F4924del InFrameDeletion 102/106 - 1
19-39075701-T-TCTTCTTTAGACAGGGTGTTGCTCTGTTGCC c.14771_14772insTAGACAGGGTGTTGCTCTGTTGCCCTTCTT p.F4924_V4925insRQGVALLPFF InFrameInsertion 102/106 - 1
19-39075709-G-A c.14773G>A p.V4925I Missense 102/106 - 1
19-39076581-T-G c.14807T>G p.L4936R Missense 103/106 - 2
19-39076587-T-C c.14813T>C p.I4938T Missense 103/106 - 1
19-39076589-G-T c.14815G>T p.D4939Y Missense 103/106 - 2
19-39076591-C-A c.14817C>A p.D4939E Missense 103/106 - 2
19-39076592-G-A c.14818G>A p.A4940T Missense 103/106 - 8
19-39076596-T-G c.14822T>G p.F4941C Missense 103/106 - 1
19-39076607-C-T c.14833C>T p.R4945* Nonsense 103/106 - 2
19-39076633-G-A c.14859G>A p.E4953= Synonymous 103/106 - 1
19-39076763-C-A c.14901C>A p.D4967E Missense 104/106 - 1
19-39076763-C-G c.14901C>G p.D4967E Missense 104/106 - 1
19-39076777-C-T c.14915C>T p.T4972I Missense 104/106 - 1
19-39076780-C-T c.14918C>T p.P4973L Missense 104/106 - 5
19-39076790-C-G c.14928C>G p.F4976L Missense 104/106 - 7
19-39076791-G-A c.14929G>A p.E4977K Missense 104/106 - 1
19-39076796-TCA-T c.14938_14939del p.T4980Afs*21 Frameshift 104/106 - 1
19-39076800-A-G c.14938A>G p.T4980A Missense 104/106 - 1
19-39076801-C-T c.14939C>T p.T4980M Missense 104/106 - 2
19-39076804-T-C c.14942T>C p.L4981P Missense 104/106 - 1
19-39077175-A-G c.14980A>G p.M4994V Missense 105/106 - 1
19-39077208-A-G c.15013A>G p.T5005A Missense 105/106 - 1
19-39077209-C-T c.15014C>T p.T5005M Missense 105/106 - 1
19-39077965-G-C c.15022G>C p.E5008Q Missense 106/106 - 1
19-39078002-G-C c.15059G>C p.W5020S Missense 106/106 - 1