EMD

EMD emerin

Annotation transcript: NM_000117.3

1033 unique variant annotations were identified in 1271 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
X-153607845-A-G c.1A>G p.M1? Missense 1/6 - 4
X-153607845-AT-TA c.1_2delinsTA p.M1? Nonsense 1/6 - 1
X-153607845-CATGGACAACTACGCAGATCTTTCGGATACCGAGCTGACCACCTTGCTGCGCCGGTACAA-C c.1_59del p.M1_?20 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion,CdsStartDeletion 1/6 - 1
X-153607847-G-A c.3G>A p.M1? Missense 1/6 - 1
X-153607847-G-C c.3G>C p.M1? Missense 1/6 - 1
X-153607847-G-T c.3G>T p.M1? Missense 1/6 - 1
X-153607848-GGAC-G c.4_6del p.D2del InFrameDeletion 1/6 - 1
X-153607850-C-T c.6C>T p.D2= Synonymous 1/6 - 9
X-153607853-C-T c.9C>T p.N3= Synonymous 1/6 - 7
X-153607856-C-A c.12C>A p.Y4* Nonsense 1/6 - 1
X-153607856-C-G c.12C>G p.Y4* Nonsense 1/6 - 1
X-153607856-C-T c.12C>T p.Y4= Synonymous 1/6 - 1
X-153607860-AG-A c.16del p.D6Ifs*7 Frameshift 1/6 - 1
X-153607867-C-G c.23C>G p.S8W Missense 1/6 - 1
X-153607867-C-T c.23C>T p.S8L Missense 1/6 - 1
X-153607869-GGAT-G c.25_27del p.D9del InFrameDeletion 1/6 - 1
X-153607869-GATACCGAGCTGACC-G c.27_40del p.T10Lfs*18 Frameshift 1/6 - 2
X-153607872-AC-CT c.28_29delinsCT p.T10L Missense 1/6 - 1
X-153607872-AC-GT c.28_29inv p.T10V Missense 1/6 - 1
X-153607872-A-G c.28A>G p.T10A Missense 1/6 - 2
X-153607873-CC-TG c.29_30delinsTG p.T10M Missense 1/6 - 1
X-153607874-C-A c.30C>A p.T10= Synonymous 1/6 - 1
X-153607874-C-G c.30C>G p.T10= Synonymous 1/6 - 1
X-153607874-C-T c.30C>T p.T10= Synonymous 1/6 - 1
X-153607875-G-A c.31G>A p.E11K Missense 1/6 - 3
X-153607875-GAG-TTT c.31_33delinsTTT p.E11F Missense 1/6 - 1
X-153607875-GA-TC c.31_32inv p.E11S Missense 1/6 - 1
X-153607876-A-C c.32A>C p.E11A Missense 1/6 - 2
X-153607878-C-G c.34C>G p.L12V Missense 1/6 - 1
X-153607878-CT-AA c.34_35delinsAA p.L12K Missense 1/6 - 1
X-153607878-CT-GA c.34_35delinsGA p.L12E Missense 1/6 - 1
X-153607878-CTG-AAC c.34_36delinsAAC p.L12N Missense 1/6 - 1
X-153607878-CTG-TGT c.34_36delinsTGT p.L12C Missense 1/6 - 2
X-153607878-CT-TC c.34_35delinsTC p.L12S Missense 1/6 - 1
X-153607879-T-C c.35T>C p.L12P Missense 1/6 - 1
X-153607881-AC-CA c.37_38delinsCA p.T13H Missense 1/6 - 1
X-153607881-AC-TG c.37_38delinsTG p.T13C Missense 1/6 - 1
X-153607881-A-G c.37A>G p.T13A Missense 1/6 - 2
X-153607881-A-T c.37A>T p.T13S Missense 1/6 - 1
X-153607882-C-G c.38C>G p.T13S Missense 1/6 - 1
X-153607884-AC-GT c.40_41inv p.T14V Missense 1/6 - 1
X-153607884-A-G c.40A>G p.T14A Missense 1/6 - 1
X-153607885-CC-AG c.41_42delinsAG p.T14K Missense 1/6 - 1
X-153607885-CC-TG c.41_42delinsTG p.T14M Missense 1/6 - 1
X-153607886-C-A c.42C>A p.T14= Synonymous 1/6 - 2
X-153607886-C-G c.42C>G p.T14= Synonymous 1/6 - 2
X-153607886-C-T c.42C>T p.T14= Synonymous 1/6 - 2
X-153607887-T-G c.43T>G p.L15V Missense 1/6 - 1
X-153607887-TTG-ATC c.43_45delinsATC p.L15I Missense 1/6 - 1
X-153607887-TT-GC c.43_44delinsGC p.L15A Missense 1/6 - 1
X-153607888-TG-GT c.44_45delinsGT p.L15C Missense 1/6 - 2
X-153607890-CT-GA c.46_47delinsGA p.L16E Missense 1/6 - 1
X-153607890-CT-GG c.46_47delinsGG p.L16G Missense 1/6 - 1
X-153607891-TG-AT c.47_48delinsAT p.L16H Missense 1/6 - 1
X-153607893-CGC-TGA c.49_51delinsTGA p.R17* Nonsense 1/6 - 1
X-153607893-CG-GC c.49_50delinsGC p.R17A Missense 1/6 - 3
X-153607893-C-T c.49C>T p.R17C Missense 1/6 - 2
X-153607894-G-C c.50G>C p.R17P Missense 1/6 - 1
X-153607896-C-A c.52C>A p.R18= Synonymous 1/6 - 1
X-153607896-CG-AA c.52_53delinsAA p.R18K Missense 1/6 - 1
X-153607896-CGG-AGC c.52_54delinsAGC p.R18S Missense 1/6 - 6
X-153607896-CG-GC c.52_53delinsGC p.R18A Missense 1/6 - 4
X-153607896-CGG-GAC c.52_54delinsGAC p.R18D Missense 1/6 - 2
X-153607896-C-T c.52C>T p.R18W Missense 1/6 - 1
X-153607898-G-A c.54G>A p.R18= Synonymous 1/6 - 1
X-153607898-G-C c.54G>C p.R18= Synonymous 1/6 - 1
X-153607898-G-T c.54G>T p.R18= Synonymous 1/6 - 1
X-153607897-G-A c.53G>A p.R18Q Missense 1/6 - 1
X-153607897-GG-AT c.53_54delinsAT p.R18H Missense 1/6 - 1
X-153607897-G-T c.53G>T p.R18L Missense 1/6 - 1
X-153607900-A-G c.56A>G p.Y19C Missense 1/6 - 1
X-153607900-A-T c.56A>T p.Y19F Missense 1/6 - 1
X-153607901-C-A c.57C>A p.Y19* Nonsense 1/6 - 1
X-153607901-C-G c.57C>G p.Y19* Nonsense 1/6 - 1
X-153607901-C-T c.57C>T p.Y19= Synonymous 1/6 - 1
X-153607902-AAC-TAA c.58_60delinsTAA p.N20* Nonsense 1/6 - 1
X-153607902-AA-GC c.58_59delinsGC p.N20A Missense 1/6 - 1
X-153607902-AA-TG c.58_59delinsTG p.N20C Missense 1/6 - 1
X-153607902-A-T c.58A>T p.N20Y Missense 1/6 - 1
X-153607903-AC-GG c.59_60delinsGG p.N20R Missense 1/6 - 1
X-153607904-AC-A c.60del p.N20Kfs*7 Frameshift 1/6 - 1
X-153607904-C-T c.60C>T p.N20= Synonymous 1/6 - 1
X-153607908-CC-AT c.64_65delinsAT p.P22M Missense 1/6 - 1
X-153607908-CCG-TTT c.64_66delinsTTT p.P22F Missense 1/6 - 2
X-153607909-C-A c.65C>A p.P22Q Missense 1/6 - 1
X-153607909-C-T c.65C>T p.P22L Missense 1/6 - 2
X-153607910-G-A c.66G>A p.P22= Synonymous 1/6 - 3
X-153607910-G-C c.66G>C p.P22= Synonymous 1/6 - 3
X-153607910-G-T c.66G>T p.P22= Synonymous 1/6 - 5
X-153607911-CA-GC c.67_68delinsGC p.H23A Missense 1/6 - 3
X-153607911-CA-TG c.67_68inv p.H23C Missense 1/6 - 2
X-153607912-A-G c.68A>G p.H23R Missense 1/6 - 1
X-153607912-A-T c.68A>T p.H23L Missense 1/6 - 1
X-153607914-G-T c.70G>T p.G24W Missense 1/6 - 1
X-153607915-G-A c.71G>A p.G24E Missense 1/6 - 1
X-153607915-G-C c.71G>C p.G24A Missense 1/6 - 1
X-153607916-G-A c.72G>A p.G24= Synonymous 1/6 - 1
X-153607916-G-C c.72G>C p.G24= Synonymous 1/6 - 1
X-153607916-G-T c.72G>T p.G24= Synonymous 1/6 - 1
X-153607917-CC-TT c.73_74delinsTT p.P25F Missense 1/6 - 1
X-153607918-C-G c.74C>G p.P25R Missense 1/6 - 1
X-153607918-C-T c.74C>T p.P25L Missense 1/6 - 1
X-153607920-G-A c.76G>A p.V26I Missense 1/6 - 1
X-153607920-GTA-ATG c.76_78delinsATG p.V26M Missense 1/6 - 1
X-153607921-T-C c.77T>C p.V26A Missense 1/6 - 1
X-153607923-G-C c.79G>C p.V27L Missense 1/6 - 1
X-153607923-G-T c.79G>T p.V27L Missense 1/6 - 1
X-153607926-G-A c.82G>A p.G28R Missense 1/6 - 2
X-153607927-G-A c.82+1G>A - IntronicSNV - 1/5 1
X-153607927-G-T c.82+1G>T - IntronicSNV - 1/5 1
X-153608050-G-C c.83G>C p.G28A Missense 2/6 - 1
X-153608050-G-T c.83G>T p.G28V Missense 2/6 - 1
X-153608052-T-C c.85T>C p.S29P Missense 2/6 - 1
X-153608052-TCA-AAC c.85_87delinsAAC p.S29N Missense 2/6 - 1
X-153608052-TC-AG c.85_86delinsAG p.S29R Missense 2/6 - 1
X-153608052-TCA-GAC c.85_87delinsGAC p.S29D Missense 2/6 - 1
X-153608052-TC-GT c.85_86delinsGT p.S29V Missense 2/6 - 1
X-153608052-T-G c.85T>G p.S29A Missense 2/6 - 2
X-153608053-CA-GT c.86_87delinsGT p.S29C Missense 2/6 - 1
X-153608054-A-C c.87A>C p.S29= Synonymous 2/6 - 1
X-153608054-A-G c.87A>G p.S29= Synonymous 2/6 - 1
X-153608054-A-T c.87A>T p.S29= Synonymous 2/6 - 1
X-153608055-AC-CA c.88_89delinsCA p.T30H Missense 2/6 - 1
X-153608055-A-G c.88A>G p.T30A Missense 2/6 - 3
X-153608055-A-T c.88A>T p.T30S Missense 2/6 - 3
X-153608056-C-G c.89C>G p.T30S Missense 2/6 - 3
X-153608057-T-A c.90T>A p.T30= Synonymous 2/6 - 1
X-153608057-T-C c.90T>C p.T30= Synonymous 2/6 - 1
X-153608057-T-G c.90T>G p.T30= Synonymous 2/6 - 1
X-153608058-C-A c.91C>A p.R31S Missense 2/6 - 1
X-153608058-CG-GA c.91_92delinsGA p.R31D Missense 2/6 - 1
X-153608058-C-T c.91C>T p.R31C Missense 2/6 - 2
X-153608059-G-T c.92G>T p.R31L Missense 2/6 - 1
X-153608061-AG-GC c.94_95delinsGC p.R32A Missense 2/6 - 2
X-153608062-G-A c.95G>A p.R32K Missense 2/6 - 1
X-153608064-C-A c.97C>A p.L33I Missense 2/6 - 1
X-153608064-C-T c.97C>T p.L33F Missense 2/6 - 2
X-153608064-CT-GC c.97_98delinsGC p.L33A Missense 2/6 - 1
X-153608064-CTT-GAG c.97_99delinsGAG p.L33E Missense 2/6 - 1
X-153608065-T-A c.98T>A p.L33H Missense 2/6 - 1
X-153608065-T-C c.98T>C p.L33P Missense 2/6 - 1
X-153608067-T-TA c.101dup p.Y34* Nonsense 2/6 - 2
X-153608068-AC-GG c.101_102delinsGG p.Y34W Missense 2/6 - 1
X-153608068-A-T c.101A>T p.Y34F Missense 2/6 - 2
X-153608070-G-A c.103G>A p.E35K Missense 2/6 - 3
X-153608070-GAG-TGT c.103_105delinsTGT p.E35C Missense 2/6 - 1
X-153608070-G-T c.103G>T p.E35* UnclassifiedSNV 2/6 - 1
X-153608071-A-C c.104A>C p.E35A Missense 2/6 - 1
X-153608072-G-C c.105G>C p.E35D Missense 2/6 - 4
X-153608072-G-T c.105G>T p.E35D Missense 2/6 - 4
X-153608073-AA-GC c.106_107delinsGC p.K36A Missense 2/6 - 2
X-153608073-A-C c.106A>C p.K36Q Missense 2/6 - 1
X-153608074-A-T c.107A>T p.K36M Missense 2/6 - 5
X-153608076-AA-GC c.109_110delinsGC p.K37A Missense 2/6 - 2
X-153608070-GAGA-G c.110_112del p.K37del InFrameDeletion 2/6 - 9
X-153608077-A-G c.110A>G p.K37R Missense 2/6 - 2
X-153608077-AG-TC c.110_111delinsTC p.K37I Missense 2/6 - 1
X-153608080-T-C c.113T>C p.I38T Missense 2/6 - 1
X-153608080-T-G c.113T>G p.I38S Missense 2/6 - 1
X-153608079-ATCT-A c.115_117del p.F39del InFrameDeletion 2/6 - 2
X-153608082-T-C c.115T>C p.F39L Missense 2/6 - 2
X-153608082-TT-GC c.115_116delinsGC p.F39A Missense 2/6 - 3
X-153608084-C-A c.117C>A p.F39L Missense 2/6 - 2
X-153608084-C-G c.117C>G p.F39L Missense 2/6 - 3
X-153608083-T-A c.116T>A p.F39Y Missense 2/6 - 1
X-153608083-T-C c.116T>C p.F39S Missense 2/6 - 1
X-153608083-TC-GG c.116_117delinsGG p.F39W Missense 2/6 - 2
X-153608085-G-A c.118G>A p.E40K Missense 2/6 - 3
X-153608085-G-C c.118G>C p.E40Q Missense 2/6 - 1
X-153608086-A-C c.119A>C p.E40A Missense 2/6 - 1
X-153608089-A-T c.122A>T p.Y41F Missense 2/6 - 1
X-153608090-C-A c.123C>A p.Y41* Nonsense 2/6 - 1
X-153608091-G-A c.124G>A p.E42K Missense 2/6 - 1
X-153608091-GA-AG c.124_125delinsAG p.E42R Missense 2/6 - 1
X-153608091-GA-CT c.124_125delinsCT p.E42L Missense 2/6 - 1
X-153608091-GAG-TGT c.124_126delinsTGT p.E42C Missense 2/6 - 1
X-153608091-G-C c.124G>C p.E42Q Missense 2/6 - 1
X-153608092-A-C c.125A>C p.E42A Missense 2/6 - 1
X-153608092-A-G c.125A>G p.E42G Missense 2/6 - 1
X-153608093-G-A c.126G>A p.E42= Synonymous 2/6 - 1
X-153608094-ACC-TAA c.127_129delinsTAA p.T43* Nonsense 2/6 - 1
X-153608094-A-T c.127A>T p.T43S Missense 2/6 - 1
X-153608095-C-G c.128C>G p.T43S Missense 2/6 - 1
X-153608095-C-T c.128C>T p.T43I Missense 2/6 - 1
X-153608096-C-A c.129C>A p.T43= Synonymous 2/6 - 2
X-153608096-C-G c.129C>G p.T43= Synonymous 2/6 - 1
X-153608096-C-T c.129C>T p.T43= Synonymous 2/6 - 1
X-153608097-C-T c.130C>T p.Q44* Nonsense 2/6 - 3
X-153608098-A-G c.131A>G p.Q44R Missense 2/6 - 1
X-153608100-AG-GC c.133_134delinsGC p.R45A Missense 2/6 - 1
X-153608100-AGG-CAT c.133_135delinsCAT p.R45H Missense 2/6 - 1
X-153608100-AG-TA c.133_134delinsTA p.R45* Nonsense 2/6 - 1
X-153608101-G-A c.134G>A p.R45K Missense 2/6 - 1
X-153608100-A-AG c.135dup p.R46Afs*15 Frameshift 2/6 - 1
X-153608102-G-C c.135G>C p.R45S Missense 2/6 - 1
X-153608102-G-T c.135G>T p.R45S Missense 2/6 - 1
X-153608103-CG-GC c.136_137delinsGC p.R46A Missense 2/6 - 1
X-153608103-C-T c.136C>T p.R46W Missense 2/6 - 1
X-153608104-G-A c.137G>A p.R46Q Missense 2/6 - 2
X-153608106-C-A c.139C>A p.R47= Synonymous 2/6 - 1
X-153608106-CG-AA c.139_140delinsAA p.R47K Missense 2/6 - 1
X-153608106-CGG-TGT c.139_141delinsTGT p.R47C Missense 2/6 - 1
X-153608108-G-A c.141G>A p.R47= Synonymous 2/6 - 1
X-153608108-G-C c.141G>C p.R47= Synonymous 2/6 - 1
X-153608108-G-T c.141G>T p.R47= Synonymous 2/6 - 1
X-153608107-G-A c.140G>A p.R47Q Missense 2/6 - 1
X-153608109-CT-GC c.142_143delinsGC p.L48A Missense 2/6 - 1
X-153608109-CT-TA c.142_143delinsTA p.L48Y Missense 2/6 - 1
X-153608110-TC-AA c.143_144delinsAA p.L48Q Missense 2/6 - 1
X-153608110-T-TC c.144dup p.S49Lfs*12 Frameshift 2/6 - 1
X-153608111-C-T c.144C>T p.L48= Synonymous 2/6 - 2
X-153608112-TC-GA c.145_146inv p.S49E Missense 2/6 - 1
X-153608113-C-G c.146C>G p.S49W Missense 2/6 - 1
X-153608113-CG-GT c.146_147delinsGT p.S49C Missense 2/6 - 1
X-153608113-C-T c.146C>T p.S49L Missense 2/6 - 3
X-153608114-G-A c.147G>A p.S49= Synonymous 2/6 - 1
X-153608114-G-C c.147G>C p.S49= Synonymous 2/6 - 1
X-153608114-G-T c.147G>T p.S49= Synonymous 2/6 - 1
X-153608115-C-A c.148C>A p.P50T Missense 2/6 - 1
X-153608115-CC-GG c.148_149inv p.P50G Missense 2/6 - 5
X-153608115-C-G c.148C>G p.P50A Missense 2/6 - 3
X-153608115-C-T c.148C>T p.P50S Missense 2/6 - 2
X-153608116-C-A c.149C>A p.P50H Missense 2/6 - 1
X-153608118-C-T c.151C>T p.P51S Missense 2/6 - 5
X-153608119-C-T c.152C>T p.P51L Missense 2/6 - 1
X-153608114-G-GC c.153dup p.S52Qfs*9 Frameshift 2/6 - 5
X-153608120-C-CT c.153_154insT p.S52* Nonsense 2/6 - 1
X-153608121-AGC-GAG c.154_156delinsGAG p.S52E Missense 2/6 - 1
X-153608121-AG-GA c.154_155delinsGA p.S52D Missense 2/6 - 1
X-153608121-AG-GC c.154_155delinsGC p.S52A Missense 2/6 - 3
X-153608121-A-T c.154A>T p.S52C Missense 2/6 - 1
X-153608122-GC-AG c.155_156delinsAG p.S52K Missense 2/6 - 1
X-153608123-C-T c.156C>T p.S52= Synonymous 2/6 - 1
X-153608124-TC-AA c.157_158delinsAA p.S53K Missense 2/6 - 1
X-153608124-TC-GA c.157_158inv p.S53E Missense 2/6 - 1
X-153608124-TCG-ATC c.157_159delinsATC p.S53I Missense 2/6 - 1
X-153608124-TCG-CAT c.157_159delinsCAT p.S53H Missense 2/6 - 2
X-153608124-TC-GG c.157_158delinsGG p.S53G Missense 2/6 - 1
X-153608124-TCG-GAC c.157_159delinsGAC p.S53D Missense 2/6 - 3
X-153608124-T-G c.157T>G p.S53A Missense 2/6 - 3
X-153608125-CG-GT c.158_159delinsGT p.S53C Missense 2/6 - 2
X-153608125-CG-TT c.158_159delinsTT p.S53F Missense 2/6 - 1
X-153608125-C-T c.158C>T p.S53L Missense 2/6 - 7
X-153608127-TC-AA c.160_161delinsAA p.S54N Missense 2/6 - 2
X-153608127-TC-CA c.160_161delinsCA p.S54H Missense 2/6 - 1
X-153608127-TCC-GAG c.160_162delinsGAG p.S54E Missense 2/6 - 1
X-153608127-TC-GG c.160_161delinsGG p.S54G Missense 2/6 - 1
X-153608127-T-G c.160T>G p.S54A Missense 2/6 - 3
X-153608128-C-T c.161C>T p.S54F Missense 2/6 - 11
X-153608129-C-A c.162C>A p.S54= Synonymous 2/6 - 1
X-153608129-C-G c.162C>G p.S54= Synonymous 2/6 - 1
X-153608129-C-T c.162C>T p.S54= Synonymous 2/6 - 1
X-153608130-G-A c.163G>A p.A55T Missense 2/6 - 1
X-153608130-GCC-CAA c.163_165delinsCAA p.A55Q Missense 2/6 - 1
X-153608130-GC-CG c.163_164delinsCG p.A55R Missense 2/6 - 1
X-153608130-GCC-TAA c.163_165delinsTAA p.A55* Nonsense 2/6 - 1
X-153608130-GC-TA c.163_164delinsTA p.A55Y Missense 2/6 - 1
X-153608131-C-A c.164C>A p.A55D Missense 2/6 - 1
X-153608131-C-G c.164C>G p.A55G Missense 2/6 - 1
X-153608132-C-A c.165C>A p.A55= Synonymous 2/6 - 6
X-153608132-C-G c.165C>G p.A55= Synonymous 2/6 - 4
X-153608132-C-T c.165C>T p.A55= Synonymous 2/6 - 4
X-153608133-CG-C c.166del p.A56Pfs*9 Frameshift 2/6 - 1
X-153608133-GC-CG c.166_167delinsCG p.A56R Missense 2/6 - 1
X-153608133-GC-TT c.166_167delinsTT p.A56F Missense 2/6 - 1
X-153608134-C-A c.167C>A p.A56D Missense 2/6 - 2
X-153608134-CC-AG c.167_168delinsAG p.A56E Missense 2/6 - 2
X-153608135-C-A c.168C>A p.A56= Synonymous 2/6 - 1
X-153608135-C-G c.168C>G p.A56= Synonymous 2/6 - 1
X-153608135-C-T c.168C>T p.A56= Synonymous 2/6 - 1
X-153608136-TC-CA c.169_170delinsCA p.S57H Missense 2/6 - 1
X-153608136-T-G c.169T>G p.S57A Missense 2/6 - 1
X-153608138-C-A c.171C>A p.S57= Synonymous 2/6 - 1
X-153608138-C-G c.171C>G p.S57= Synonymous 2/6 - 1
X-153608138-C-T c.171C>T p.S57= Synonymous 2/6 - 1
X-153608139-T-A c.172T>A p.S58T Missense 2/6 - 1
X-153608139-TC-AA c.172_173delinsAA p.S58N Missense 2/6 - 1
X-153608139-TC-GA c.172_173inv p.S58D Missense 2/6 - 2
X-153608139-T-G c.172T>G p.S58A Missense 2/6 - 2
X-153608140-C-G c.173C>G p.S58C Missense 2/6 - 3
X-153608140-C-T c.173C>T p.S58F Missense 2/6 - 2
X-153608141-CTT-C c.174_175del p.Y59* Frameshift 2/6 - 2
X-153608142-TA-GC c.175_176delinsGC p.Y59A Missense 2/6 - 1
X-153608143-A-C c.176A>C p.Y59S Missense 2/6 - 1
X-153608143-A-G c.176A>G p.Y59C Missense 2/6 - 1
X-153608143-A-T c.176A>T p.Y59F Missense 2/6 - 5
X-153608144-T-A c.177T>A p.Y59* Nonsense 2/6 - 2
X-153608144-T-G c.177T>G p.Y59* Nonsense 2/6 - 1
X-153608145-AG-CA c.178_179delinsCA p.S60H Missense 2/6 - 1
X-153608145-AG-GC c.178_179delinsGC p.S60A Missense 2/6 - 1
X-153608146-G-A c.179G>A p.S60N Missense 2/6 - 1
X-153608147-C-T c.180C>T p.S60= Synonymous 2/6 - 1
X-153608149-T-C c.182T>C p.F61S Missense 2/6 - 1
X-153608150-C-A c.183C>A p.F61L Missense 2/6 - 1
X-153608150-C-T c.183C>T p.F61= Synonymous 2/6 - 1
X-153608150-C-CT c.184dup p.S62Ffs*2 Frameshift 2/6 - 2
X-153608151-TC-AA c.184_185delinsAA p.S62N Missense 2/6 - 1
X-153608151-T-G c.184T>G p.S62A Missense 2/6 - 3
X-153608152-C-G c.185C>G p.S62C Missense 2/6 - 1
X-153608154-G-A c.187G>A p.D63N Missense 2/6 - 2
X-153608155-G-A c.187+1G>A - IntronicSNV - 2/5 1
X-153608155-G-T c.187+1G>T - IntronicSNV - 2/5 1
X-153608302-A-G c.188A>G p.D63G Missense 3/6 - 1
X-153608303-C-T c.189C>T p.D63= Synonymous 3/6 - 2
X-153608304-T-G c.190T>G p.L64V Missense 3/6 - 1
X-153608304-TT-AA c.190_191inv p.L64K Missense 3/6 - 1
X-153608305-T-C c.191T>C p.L64S Missense 3/6 - 1
X-153608306-G-C c.192G>C p.L64F Missense 3/6 - 5
X-153608306-G-T c.192G>T p.L64F Missense 3/6 - 4
X-153608310-T-A c.196T>A p.S66T Missense 3/6 - 1
X-153608310-T-C c.196T>C p.S66P Missense 3/6 - 1
X-153608310-TC-GA c.196_197inv p.S66E Missense 3/6 - 1
X-153608310-T-G c.196T>G p.S66A Missense 3/6 - 2
X-153608311-C-T c.197C>T p.S66L Missense 3/6 - 3
X-153608313-AC-GT c.199_200inv p.T67V Missense 3/6 - 1
X-153608313-ACT-CAA c.199_201delinsCAA p.T67Q Missense 3/6 - 1
X-153608313-A-G c.199A>G p.T67A Missense 3/6 - 2
X-153608314-C-T c.200C>T p.T67I Missense 3/6 - 1
X-153608316-A-G c.202A>G p.R68G Missense 3/6 - 1
X-153608316-AG-CA c.202_203delinsCA p.R68Q Missense 3/6 - 1
X-153608316-AG-GC c.202_203delinsGC p.R68A Missense 3/6 - 3
X-153608316-AG-GT c.202_203delinsGT p.R68V Missense 3/6 - 1
X-153608317-G-A c.203G>A p.R68K Missense 3/6 - 2
X-153608318-A-C c.204A>C p.R68S Missense 3/6 - 1
X-153608318-A-T c.204A>T p.R68S Missense 3/6 - 1
X-153608319-G-A c.205G>A p.G69R Missense 3/6 - 1
X-153608319-G-C c.205G>C p.G69R Missense 3/6 - 1
X-153608319-G-T c.205G>T p.G69W Missense 3/6 - 1
X-153608320-GG-AC c.206_207delinsAC p.G69D Missense 3/6 - 1
X-153608322-G-A c.208G>A p.D70N Missense 3/6 - 1
X-153608322-GA-AG c.208_209delinsAG p.D70S Missense 3/6 - 2
X-153608324-T-A c.210T>A p.D70E Missense 3/6 - 5
X-153608324-T-C c.210T>C p.D70= Synonymous 3/6 - 1
X-153608324-T-G c.210T>G p.D70E Missense 3/6 - 5
X-153608325-G-A c.211G>A p.A71T Missense 3/6 - 1
X-153608325-GCA-TGT c.211_213delinsTGT p.A71C Missense 3/6 - 3
X-153608325-G-T c.211G>T p.A71S Missense 3/6 - 3
X-153608326-C-A c.212C>A p.A71E Missense 3/6 - 1
X-153608326-CA-AC c.212_213delinsAC p.A71D Missense 3/6 - 2
X-153608326-C-T c.212C>T p.A71V Missense 3/6 - 2
X-153608327-A-C c.213A>C p.A71= Synonymous 3/6 - 1
X-153608327-A-G c.213A>G p.A71= Synonymous 3/6 - 1
X-153608327-A-T c.213A>T p.A71= Synonymous 3/6 - 1
X-153608328-G-A c.214G>A p.D72N Missense 3/6 - 1
X-153608328-GA-TG c.214_215delinsTG p.D72C Missense 3/6 - 1
X-153608329-A-C c.215A>C p.D72A Missense 3/6 - 2
X-153608329-A-T c.215A>T p.D72V Missense 3/6 - 1
X-153608330-T-C c.216T>C p.D72= Synonymous 3/6 - 1
X-153608334-T-G c.220T>G p.Y74D Missense 3/6 - 1
X-153608335-A-T c.221A>T p.Y74F Missense 3/6 - 3
X-153608335-AT-GG c.221_222delinsGG p.Y74W Missense 3/6 - 1
X-153608337-G-A c.223G>A p.D75N Missense 3/6 - 1
X-153608337-GA-TG c.223_224delinsTG p.D75C Missense 3/6 - 1
X-153608338-A-C c.224A>C p.D75A Missense 3/6 - 1
X-153608339-T-A c.225T>A p.D75E Missense 3/6 - 1
X-153608339-T-G c.225T>G p.D75E Missense 3/6 - 1
X-153608340-C-T c.226C>T p.L76F Missense 3/6 - 1
X-153608340-CT-AC c.226_227delinsAC p.L76T Missense 3/6 - 1
X-153608340-CT-AG c.226_227inv p.L76S Missense 3/6 - 1
X-153608340-CTT-GAG c.226_228delinsGAG p.L76E Missense 3/6 - 1
X-153608344-C-T c.230C>T p.P77L Missense 3/6 - 1
X-153608346-AA-GC c.232_233delinsGC p.K78A Missense 3/6 - 1
X-153608346-AAG-CAT c.232_234delinsCAT p.K78H Missense 3/6 - 1
X-153608346-A-G c.232A>G p.K78E Missense 3/6 - 1
X-153608348-G-A c.234G>A p.K78= Synonymous 3/6 - 1
X-153608349-AAA-TGT c.235_237delinsTGT p.K79C Missense 3/6 - 1
X-153608349-AA-GC c.235_236delinsGC p.K79A Missense 3/6 - 1
X-153608349-A-C c.235A>C p.K79Q Missense 3/6 - 1
X-153608350-AA-TG c.236_237delinsTG p.K79M Missense 3/6 - 1
X-153608350-A-G c.236A>G p.K79R Missense 3/6 - 1
X-153608351-A-G c.237A>G p.K79= Synonymous 3/6 - 1
X-153608352-G-A c.238G>A p.E80K Missense 3/6 - 2
X-153608352-GAG-ATC c.238_240delinsATC p.E80I Missense 3/6 - 10
X-153608352-G-C c.238G>C p.E80Q Missense 3/6 - 2
X-153608353-A-C c.239A>C p.E80A Missense 3/6 - 1
X-153608355-G-A c.241G>A p.D81N Missense 3/6 - 2
X-153608356-A-G c.242A>G p.D81G Missense 3/6 - 1
X-153608358-GC-TG c.244_245delinsTG p.A82C Missense 3/6 - 3
X-153608358-GC-TT c.244_245delinsTT p.A82F Missense 3/6 - 1
X-153608359-C-A c.245C>A p.A82D Missense 3/6 - 1
X-153608359-C-T c.245C>T p.A82V Missense 3/6 - 2
X-153608359-CT-AG c.245_246inv p.A82E Missense 3/6 - 1
X-153608360-T-A c.246T>A p.A82= Synonymous 3/6 - 2
X-153608360-T-C c.246T>C p.A82= Synonymous 3/6 - 2
X-153608360-T-G c.246T>G p.A82= Synonymous 3/6 - 2
X-153608361-TT-CC c.247_248delinsCC p.L83P Missense 3/6 - 1
X-153608363-A-C c.249A>C p.L83F Missense 3/6 - 1
X-153608363-A-T c.249A>T p.L83F Missense 3/6 - 1
X-153608364-C-T c.250C>T p.L84F Missense 3/6 - 1
X-153608364-CT-AG c.250_251inv p.L84S Missense 3/6 - 5
X-153608364-CTC-ATG c.250_252delinsATG p.L84M Missense 3/6 - 1
X-153608361-TTACTC-T c.251_255del p.L84Pfs*7 Frameshift 3/6 - 1
X-153608366-C-CT c.253dup p.Y85Lfs*8 Frameshift 3/6 - 2
X-153608368-A-T c.254A>T p.Y85F Missense 3/6 - 1
X-153608370-C-T c.256C>T p.Q86* Nonsense 3/6 - 1
X-153608373-AG-CA c.259_260delinsCA p.S87H Missense 3/6 - 1
X-153608373-AG-CT c.259_260inv p.S87L Missense 3/6 - 1
X-153608373-AG-GC c.259_260delinsGC p.S87A Missense 3/6 - 1
X-153608375-C-T c.261C>T p.S87= Synonymous 3/6 - 1
X-153608376-AA-GC c.262_263delinsGC p.K88A Missense 3/6 - 1
X-153608378-G-A c.264G>A p.K88= Synonymous 3/6 - 2
X-153608378-G-C c.264G>C p.K88N Missense 3/6 - 1
X-153608378-G-T c.264G>T p.K88N Missense 3/6 - 2
X-153608379-G-T c.265G>T p.G89C Missense 3/6 - 1
X-153608381-T-A c.265+2T>A - IntronicSNV - 3/5 1
X-153608594-G-T c.266G>T p.G89V Missense 4/6 - 3
X-153608595-C-G c.267C>G p.G89= Synonymous 4/6 - 1
X-153608596-TA-GC c.268_269delinsGC p.Y90A Missense 4/6 - 2
X-153608597-A-C c.269A>C p.Y90S Missense 4/6 - 1
X-153608597-A-G c.269A>G p.Y90C Missense 4/6 - 1
X-153608597-A-T c.269A>T p.Y90F Missense 4/6 - 1
X-153608599-AA-CT c.271_272delinsCT p.N91L Missense 4/6 - 1
X-153608600-A-G c.272A>G p.N91S Missense 4/6 - 3
X-153608602-GA-TG c.274_275delinsTG p.D92C Missense 4/6 - 1
X-153608602-GA-TT c.274_275delinsTT p.D92F Missense 4/6 - 2
X-153608602-G-GA c.275dup p.D92Efs*5 Frameshift 4/6 - 1
X-153608603-A-G c.275A>G p.D92G Missense 4/6 - 1
X-153608604-C-A c.276C>A p.D92E Missense 4/6 - 1
X-153608604-C-G c.276C>G p.D92E Missense 4/6 - 1
X-153608605-G-A c.277G>A p.D93N Missense 4/6 - 2
X-153608605-GA-TT c.277_278delinsTT p.D93F Missense 4/6 - 1
X-153608608-TAC-GAG c.280_282delinsGAG p.Y94E Missense 4/6 - 1
X-153608608-T-C c.280T>C p.Y94H Missense 4/6 - 1
X-153608610-C-T c.282C>T p.Y94= Synonymous 4/6 - 1
X-153608611-TA-GC c.283_284delinsGC p.Y95A Missense 4/6 - 1
X-153608606-ACTACTATGAAGAGAG-A c.284_298del p.Y95_Y99del InFrameDeletion 4/6 - 1
X-153608612-A-G c.284A>G p.Y95C Missense 4/6 - 1
X-153608612-A-T c.284A>T p.Y95F Missense 4/6 - 2
X-153608614-G-A c.286G>A p.E96K Missense 4/6 - 2
X-153608614-GAA-ATG c.286_288delinsATG p.E96M Missense 4/6 - 2
X-153608614-GA-AG c.286_287delinsAG p.E96R Missense 4/6 - 1
X-153608614-G-T c.286G>T p.E96* Nonsense 4/6 - 1
X-153608615-A-C c.287A>C p.E96A Missense 4/6 - 1
X-153608616-A-G c.288A>G p.E96= Synonymous 4/6 - 1
X-153608617-G-A c.289G>A p.E97K Missense 4/6 - 4
X-153608617-GA-AG c.289_290delinsAG p.E97R Missense 4/6 - 2
X-153608617-GAG-TTT c.289_291delinsTTT p.E97F Missense 4/6 - 2
X-153608617-G-T c.289G>T p.E97* Nonsense 4/6 - 1
X-153608619-G-C c.291G>C p.E97D Missense 4/6 - 1
X-153608619-G-T c.291G>T p.E97D Missense 4/6 - 1
X-153608620-A-G c.292A>G p.S98G Missense 4/6 - 2
X-153608620-AG-GA c.292_293delinsGA p.S98D Missense 4/6 - 1
X-153608623-TA-CG c.295_296delinsCG p.Y99R Missense 4/6 - 1
X-153608623-TA-GC c.295_296delinsGC p.Y99A Missense 4/6 - 1
X-153608624-AC-GG c.296_297delinsGG p.Y99W Missense 4/6 - 1
X-153608624-A-T c.296A>T p.Y99F Missense 4/6 - 1
X-153608626-T-G c.298T>G p.F100V Missense 4/6 - 1
X-153608626-TT-GC c.298_299delinsGC p.F100A Missense 4/6 - 2
X-153608626-TT-GG c.298_299delinsGG p.F100G Missense 4/6 - 1
X-153608627-T-C c.299T>C p.F100S Missense 4/6 - 1
X-153608628-C-T c.300C>T p.F100= Synonymous 4/6 - 1
X-153608629-AC-CT c.301_302delinsCT p.T101L Missense 4/6 - 1
X-153608629-AC-TT c.301_302delinsTT p.T101F Missense 4/6 - 1
X-153608629-A-G c.301A>G p.T101A Missense 4/6 - 2
X-153608629-A-T c.301A>T p.T101S Missense 4/6 - 1
X-153608630-CC-TG c.302_303delinsTG p.T101M Missense 4/6 - 1
X-153608630-C-G c.302C>G p.T101S Missense 4/6 - 1
X-153608631-C-A c.303C>A p.T101= Synonymous 4/6 - 1
X-153608631-C-G c.303C>G p.T101= Synonymous 4/6 - 1
X-153608631-C-T c.303C>T p.T101= Synonymous 4/6 - 1
X-153608632-ACC-GAG c.304_306delinsGAG p.T102E Missense 4/6 - 1
X-153608632-AC-TG c.304_305delinsTG p.T102C Missense 4/6 - 3
X-153608632-A-G c.304A>G p.T102A Missense 4/6 - 1
X-153608632-A-T c.304A>T p.T102S Missense 4/6 - 1
X-153608633-C-G c.305C>G p.T102S Missense 4/6 - 1
X-153608633-C-T c.305C>T p.T102I Missense 4/6 - 1
X-153608635-AG-GC c.307_308delinsGC p.R103A Missense 4/6 - 1
X-153608635-AGG-TGT c.307_309delinsTGT p.R103C Missense 4/6 - 1
X-153608636-G-A c.308G>A p.R103K Missense 4/6 - 1
X-153608637-G-C c.309G>C p.R103S Missense 4/6 - 2
X-153608637-G-T c.309G>T p.R103S Missense 4/6 - 2
X-153608638-A-G c.310A>G p.T104A Missense 4/6 - 2
X-153608642-A-G c.314A>G p.Y105C Missense 4/6 - 1
X-153608642-A-T c.314A>T p.Y105F Missense 4/6 - 1
X-153608643-T-A c.315T>A p.Y105* Nonsense 4/6 - 2
X-153608643-T-G c.315T>G p.Y105* Nonsense 4/6 - 1
X-153608644-GGG-AGC c.316_318delinsAGC p.G106S Missense 4/6 - 1
X-153608645-G-A c.317G>A p.G106E Missense 4/6 - 1
X-153608647-G-C c.319G>C p.E107Q Missense 4/6 - 1
X-153608649-G-A c.321G>A p.E107= Synonymous 4/6 - 2
X-153608649-G-C c.321G>C p.E107D Missense 4/6 - 1
X-153608649-G-T c.321G>T p.E107D Missense 4/6 - 1
X-153608653-G-A c.325G>A p.E109K Missense 4/6 - 2
X-153608653-G-C c.325G>C p.E109Q Missense 4/6 - 2
X-153608654-A-C c.326A>C p.E109A Missense 4/6 - 2
X-153608656-T-C c.328T>C p.S110P Missense 4/6 - 1
X-153608656-T-G c.328T>G p.S110A Missense 4/6 - 2
X-153608657-TC-T c.329del p.S110Lfs*12 Frameshift 4/6 - 1
X-153608659-GC-TA c.331_332delinsTA p.A111Y Missense 4/6 - 1
X-153608659-G-T c.331G>T p.A111S Missense 4/6 - 1
X-153608662-G-A c.334G>A p.G112S Missense 4/6 - 1
X-153608662-G-T c.334G>T p.G112C Missense 4/6 - 2
X-153608663-G-A c.335G>A p.G112D Missense 4/6 - 1
X-153608663-GC-AG c.335_336delinsAG p.G112E Missense 4/6 - 3
X-153608665-C-G c.337C>G p.P113A Missense 4/6 - 1
X-153608665-C-T c.337C>T p.P113S Missense 4/6 - 1
X-153608666-C-A c.338C>A p.P113Q Missense 4/6 - 5
X-153608666-C-T c.338C>T p.P113L Missense 4/6 - 1
X-153608667-G-T c.339G>T p.P113= Synonymous 4/6 - 1
X-153608668-TCC-GAG c.340_342delinsGAG p.S114E Missense 4/6 - 1
X-153608668-T-G c.340T>G p.S114A Missense 4/6 - 5
X-153608671-A-G c.343A>G p.R115G Missense 4/6 - 1
X-153608671-AG-GC c.343_344delinsGC p.R115A Missense 4/6 - 1
X-153608672-G-A c.344G>A p.R115K Missense 4/6 - 1
X-153608672-GG-TC c.344_345delinsTC p.R115I Missense 4/6 - 1
X-153608673-G-C c.345G>C p.R115S Missense 4/6 - 1
X-153608673-G-T c.345G>T p.R115S Missense 4/6 - 3
X-153608675-C-G c.347C>G p.A116G Missense 4/6 - 1
X-153608677-G-A c.349G>A p.V117I Missense 4/6 - 2
X-153608677-G-C c.349G>C p.V117L Missense 4/6 - 1
X-153608677-G-T c.349G>T p.V117F Missense 4/6 - 1
X-153608680-C-G c.352C>G p.R118G Missense 4/6 - 19
X-153608680-CG-GC c.352_353delinsGC p.R118A Missense 4/6 - 1
X-153608680-C-T c.352C>T p.R118C Missense 4/6 - 1
X-153608681-G-A c.353G>A p.R118H Missense 4/6 - 3
X-153608683-C-A c.355C>A p.Q119K Missense 4/6 - 1
X-153608686-TCA-AAC c.358_360delinsAAC p.S120N Missense 4/6 - 1
X-153608686-TCA-GAC c.358_360delinsGAC p.S120D Missense 4/6 - 2
X-153608686-TC-GG c.358_359delinsGG p.S120G Missense 4/6 - 1
X-153608686-T-G c.358T>G p.S120A Missense 4/6 - 2
X-153608682-CCAGT-C c.359_362del p.S120* Frameshift 4/6 - 1
X-153608687-C-A c.359C>A p.S120* Nonsense 4/6 - 1
X-153608687-CA-GT c.359_360delinsGT p.S120C Missense 4/6 - 4
X-153608687-C-G c.359C>G p.S120* Nonsense 4/6 - 1
X-153608690-T-C c.362T>C p.V121A Missense 4/6 - 1
X-153608692-A-G c.364A>G p.T122A Missense 4/6 - 1
X-153608693-CT-GG c.365_366delinsGG p.T122R Missense 4/6 - 2
X-153608695-TCA-AAC c.367_369delinsAAC p.S123N Missense 4/6 - 1
X-153608695-TC-AG c.367_368delinsAG p.S123R Missense 4/6 - 1
X-153608696-CA-AT c.368_369delinsAT p.S123Y Missense 4/6 - 1
X-153608696-CA-GT c.368_369delinsGT p.S123C Missense 4/6 - 1
X-153608697-A-C c.369A>C p.S123= Synonymous 4/6 - 1
X-153608697-A-G c.369A>G p.S123= Synonymous 4/6 - 1
X-153608697-A-T c.369A>T p.S123= Synonymous 4/6 - 1
X-153608698-T-C c.370T>C p.F124L Missense 4/6 - 2
X-153608698-TT-GA c.370_371delinsGA p.F124D Missense 4/6 - 1
X-153608700-C-A c.372C>A p.F124L Missense 4/6 - 1
X-153608700-C-G c.372C>G p.F124L Missense 4/6 - 1
X-153608701-CC-GA c.373_374delinsGA p.P125E Missense 4/6 - 1
X-153608701-C-G c.373C>G p.P125A Missense 4/6 - 3
X-153608701-C-T c.373C>T p.P125S Missense 4/6 - 1
X-153608702-C-T c.374C>T p.P125L Missense 4/6 - 1
X-153608705-ATGCTGACGC-A c.379_387del p.A127_A129del InFrameDeletion 4/6 - 1
X-153608708-C-T c.380C>T p.A127V Missense 4/6 - 1
X-153608713-G-A c.385G>A p.A129T Missense 4/6 - 5
X-153608717-T-A c.389T>A p.F130Y Missense 4/6 - 1
X-153608717-TC-T c.391del p.H131Ifs*106 Frameshift 4/6 - 1
X-153608722-CA-GC c.394_395delinsGC p.H132A Missense 4/6 - 1
X-153608724-C-A c.396C>A p.H132Q Missense 4/6 - 2
X-153608724-C-T c.396C>T p.H132= Synonymous 4/6 - 2
X-153608727-G-C c.399G>C p.Q133H Missense 4/6 - 10
X-153608727-G-T c.399G>T p.Q133H Missense 4/6 - 10
X-153608791-T-C c.399+64T>C - IntronicSNV - 4/5 2
X-153609113-G-A c.400G>A p.V134M Missense 5/6 - 2
X-153609114-T-C c.401T>C p.V134A Missense 5/6 - 3
X-153609115-G-A c.402G>A p.V134= Synonymous 5/6 - 1
X-153609115-G-C c.402G>C p.V134= Synonymous 5/6 - 1
X-153609115-G-T c.402G>T p.V134= Synonymous 5/6 - 3
X-153609116-C-A c.403C>A p.H135N Missense 5/6 - 1
X-153609116-CA-TG c.403_404inv p.H135C Missense 5/6 - 1
X-153609117-A-AT c.405dup p.D136* Nonsense 5/6 - 1
X-153609118-T-A c.405T>A p.H135Q Missense 5/6 - 1
X-153609118-T-G c.405T>G p.H135Q Missense 5/6 - 1
X-153609119-G-A c.406G>A p.D136N Missense 5/6 - 1
X-153609119-GA-AC c.406_407delinsAC p.D136T Missense 5/6 - 1
X-153609119-GAT-TAA c.406_408delinsTAA p.D136* Nonsense 5/6 - 1
X-153609119-G-C c.406G>C p.D136H Missense 5/6 - 3
X-153609119-G-T c.406G>T p.D136Y Missense 5/6 - 2
X-153609120-A-C c.407A>C p.D136A Missense 5/6 - 4
X-153609120-A-T c.407A>T p.D136V Missense 5/6 - 1
X-153609121-T-C c.408T>C p.D136= Synonymous 5/6 - 1
X-153609122-GA-TG c.409_410delinsTG p.D137C Missense 5/6 - 1
X-153609122-G-T c.409G>T p.D137Y Missense 5/6 - 2
X-153609123-A-C c.410A>C p.D137A Missense 5/6 - 1
X-153609125-G-A c.412G>A p.D138N Missense 5/6 - 3
X-153609125-G-T c.412G>T p.D138Y Missense 5/6 - 7
X-153609126-A-C c.413A>C p.D138A Missense 5/6 - 1
X-153609126-A-G c.413A>G p.D138G Missense 5/6 - 1
X-153609128-C-A c.415C>A p.L139I Missense 5/6 - 1
X-153609128-CT-GC c.415_416delinsGC p.L139A Missense 5/6 - 1
X-153609128-TC-T c.415del p.L139Ffs*98 Frameshift 5/6 - 1
X-153609129-T-A c.416T>A p.L139H Missense 5/6 - 1
X-153609129-T-G c.416T>G p.L139R Missense 5/6 - 1
X-153609131-T-A c.418T>A p.L140M Missense 5/6 - 1
X-153609132-T-A c.419T>A p.L140* Nonsense 5/6 - 1
X-153609134-TC-CG c.421_422delinsCG p.S141R Missense 5/6 - 1
X-153609134-T-G c.421T>G p.S141A Missense 5/6 - 1
X-153609136-T-G c.423T>G p.S141= Synonymous 5/6 - 1
X-153609137-TC-GA c.424_425inv p.S142D Missense 5/6 - 2
X-153609137-TCT-GAG c.424_426delinsGAG p.S142E Missense 5/6 - 1
X-153609137-T-G c.424T>G p.S142A Missense 5/6 - 1
X-153609138-C-T c.425C>T p.S142F Missense 5/6 - 2
X-153609133-GTCT-G c.427_429del p.S143del InFrameDeletion 5/6 - 1
X-153609141-C-T c.428C>T p.S143F Missense 5/6 - 6
X-153609143-G-A c.430G>A p.E144K Missense 5/6 - 4
X-153609143-G-C c.430G>C p.E144Q Missense 5/6 - 1
X-153609143-G-T c.430G>T p.E144* Nonsense 5/6 - 3
X-153609144-A-C c.431A>C p.E144A Missense 5/6 - 1
X-153609145-A-C c.432A>C p.E144D Missense 5/6 - 1
X-153609145-A-G c.432A>G p.E144= Synonymous 5/6 - 1
X-153609145-A-T c.432A>T p.E144D Missense 5/6 - 1
X-153609146-G-A c.433G>A p.E145K Missense 5/6 - 3
X-153609146-G-T c.433G>T p.E145* Nonsense 5/6 - 1
X-153609147-A-G c.434A>G p.E145G Missense 5/6 - 1
X-153609147-A-T c.434A>T p.E145V Missense 5/6 - 1
X-153609149-G-A c.436G>A p.E146K Missense 5/6 - 3
X-153609149-G-C c.436G>C p.E146Q Missense 5/6 - 1
X-153609150-A-C c.437A>C p.E146A Missense 5/6 - 1
X-153609151-G-A c.438G>A p.E146= Synonymous 5/6 - 1
X-153609152-T-A c.439T>A p.C147S Missense 5/6 - 2
X-153609152-TG-GC c.439_440delinsGC p.C147A Missense 5/6 - 1
X-153609153-G-C c.440G>C p.C147S Missense 5/6 - 2
X-153609155-AA-GC c.442_443delinsGC p.K148A Missense 5/6 - 3
X-153609155-A-C c.442A>C p.K148Q Missense 5/6 - 1
X-153609155-A-G c.442A>G p.K148E Missense 5/6 - 3
X-153609155-A-T c.442A>T p.K148* Nonsense 5/6 - 1
X-153609156-A-C c.443A>C p.K148T Missense 5/6 - 1
X-153609156-A-G c.443A>G p.K148R Missense 5/6 - 2
X-153609157-G-A c.444G>A p.K148= Synonymous 5/6 - 1
X-153609158-G-A c.445G>A p.D149N Missense 5/6 - 3
X-153609158-G-C c.445G>C p.D149H Missense 5/6 - 11
X-153609159-A-C c.446A>C p.D149A Missense 5/6 - 2
X-153609159-A-G c.446A>G p.D149G Missense 5/6 - 1
X-153609161-AG-CA c.448_449delinsCA p.R150Q Missense 5/6 - 1
X-153609161-AG-GC c.448_449delinsGC p.R150A Missense 5/6 - 1
X-153609161-AG-TA c.448_449delinsTA p.R150* Nonsense 5/6 - 1
X-153609162-G-A c.449G>A p.R150K Missense 5/6 - 1
X-153609162-G-C c.449G>C p.R150T Missense 5/6 - 1
X-153609162-G-T c.449G>T p.R150M Missense 5/6 - 1
X-153609163-G-A c.449+1G>A - IntronicSNV - 5/5 1
X-153609166-C-T c.449+4C>T - IntronicSNV - 5/5 1
X-153609167-G-A c.449+5G>A - IntronicSNV - 5/5 3
X-153609242-GG-AA c.450_451delinsAA p.E151K SpliceAcceptorBlockSubstitution 6/6 - 1
X-153609240-A-AG c.451dup p.E151Gfs*59 SpliceAcceptorInsertion 6/6 - 1
X-153609243-G-A c.451G>A p.E151K Missense 6/6 - 4
X-153609244-A-C c.452A>C p.E151A Missense 6/6 - 2
X-153609244-A-T c.452A>T p.E151V Missense 6/6 - 1
X-153609245-A-C c.453A>C p.E151D Missense 6/6 - 1
X-153609245-A-T c.453A>T p.E151D Missense 6/6 - 1
X-153609246-C-A c.454C>A p.R152S Missense 6/6 - 1
X-153609246-CGC-GAG c.454_456delinsGAG p.R152E Missense 6/6 - 1
X-153609246-CG-GC c.454_455delinsGC p.R152A Missense 6/6 - 1
X-153609246-C-T c.454C>T p.R152C Missense 6/6 - 6
X-153609247-G-A c.455G>A p.R152H Missense 6/6 - 3
X-153609248-C-T c.456C>T p.R152= Synonymous 6/6 - 1
X-153609250-C-T c.458C>T p.P153L Missense 6/6 - 1
X-153609251-C-G c.459C>G p.P153= Synonymous 6/6 - 1
X-153609251-C-T c.459C>T p.P153= Synonymous 6/6 - 1
X-153609252-A-C c.460A>C p.M154L Missense 6/6 - 1
X-153609252-A-G c.460A>G p.M154V Missense 6/6 - 2
X-153609252-A-T c.460A>T p.M154L Missense 6/6 - 1
X-153609254-G-T c.462G>T p.M154I Missense 6/6 - 1
X-153609255-TAC-AAG c.463_465delinsAAG p.Y155K Missense 6/6 - 1
X-153609255-TA-CC c.463_464delinsCC p.Y155P Missense 6/6 - 1
X-153609255-TA-CG c.463_464delinsCG p.Y155R Missense 6/6 - 1
X-153609255-TAC-GAG c.463_465delinsGAG p.Y155E Missense 6/6 - 2
X-153609255-TA-GC c.463_464delinsGC p.Y155A Missense 6/6 - 3
X-153609255-T-C c.463T>C p.Y155H Missense 6/6 - 1
X-153609256-A-C c.464A>C p.Y155S Missense 6/6 - 1
X-153609257-C-T c.465C>T p.Y155= Synonymous 6/6 - 2
X-153609258-G-A c.466G>A p.G156S Missense 6/6 - 4
X-153609258-G-C c.466G>C p.G156R Missense 6/6 - 4
X-153609258-G-T c.466G>T p.G156C Missense 6/6 - 2
X-153609259-G-A c.467G>A p.G156D Missense 6/6 - 1
X-153609259-G-C c.467G>C p.G156A Missense 6/6 - 1
X-153609259-GC-AG c.467_468delinsAG p.G156E Missense 6/6 - 1
X-153609259-G-T c.467G>T p.G156V Missense 6/6 - 1
X-153609256-ACGGC-A c.468_471del p.R157Tfs*79 Frameshift 6/6 - 1
X-153609260-C-T c.468C>T p.G156= Synonymous 6/6 - 1
X-153609261-C-G c.469C>G p.R157G Missense 6/6 - 1
X-153609261-CGG-ATC c.469_471delinsATC p.R157I Missense 6/6 - 1
X-153609261-CG-GC c.469_470delinsGC p.R157A Missense 6/6 - 1
X-153609261-C-T c.469C>T p.R157W Missense 6/6 - 3
X-153609262-G-A c.470G>A p.R157Q Missense 6/6 - 2
X-153609262-GG-AT c.470_471delinsAT p.R157H Missense 6/6 - 2
X-153609263-G-GT c.471_472insT p.D158* Nonsense 6/6 - 1
X-153609264-G-A c.472G>A p.D158N Missense 6/6 - 1
X-153609264-GA-TG c.472_473delinsTG p.D158C Missense 6/6 - 1
X-153609264-G-C c.472G>C p.D158H Missense 6/6 - 1
X-153609265-A-C c.473A>C p.D158A Missense 6/6 - 1
X-153609266-C-T c.474C>T p.D158= Synonymous 6/6 - 1
X-153609267-A-G c.475A>G p.S159G Missense 6/6 - 1
X-153609267-AG-CT c.475_476inv p.S159L Missense 6/6 - 1
X-153609267-AG-TT c.475_476delinsTT p.S159F Missense 6/6 - 1
X-153609268-G-T c.476G>T p.S159I Missense 6/6 - 1
X-153609270-G-T c.478G>T p.A160S Missense 6/6 - 2
X-153609271-C-T c.479C>T p.A160V Missense 6/6 - 1
X-153609273-TAC-AAG c.481_483delinsAAG p.Y161K Missense 6/6 - 1
X-153609273-TA-GC c.481_482delinsGC p.Y161A Missense 6/6 - 1
X-153609274-A-T c.482A>T p.Y161F Missense 6/6 - 3
X-153609275-C-G c.483C>G p.Y161* Nonsense 6/6 - 1
X-153609276-C-T c.484C>T p.Q162* Nonsense 6/6 - 3
X-153609278-G-A c.486G>A p.Q162= Synonymous 6/6 - 3
X-153609279-AG-GC c.487_488delinsGC p.S163A Missense 6/6 - 3
X-153609279-A-T c.487A>T p.S163C Missense 6/6 - 1
X-153609279-GA-G c.487del p.S163Afs*74 Frameshift 6/6 - 1
X-153609281-C-G c.489C>G p.S163R Missense 6/6 - 1
X-153609281-C-T c.489C>T p.S163= Synonymous 6/6 - 2
X-153609282-A-C c.490A>C p.I164L Missense 6/6 - 2
X-153609282-A-G c.490A>G p.I164V Missense 6/6 - 1
X-153609284-C-T c.492C>T p.I164= Synonymous 6/6 - 1
X-153609285-A-C c.493A>C p.T165P Missense 6/6 - 1
X-153609285-AC-GT c.493_494inv p.T165V Missense 6/6 - 1
X-153609286-C-T c.494C>T p.T165M Missense 6/6 - 3
X-153609287-G-A c.495G>A p.T165= Synonymous 6/6 - 3
X-153609287-G-T c.495G>T p.T165= Synonymous 6/6 - 1
X-153609288-CA-GC c.496_497delinsGC p.H166A Missense 6/6 - 1
X-153609288-C-T c.496C>T p.H166Y Missense 6/6 - 1
X-153609291-TA-GC c.499_500delinsGC p.Y167A Missense 6/6 - 1
X-153609292-A-T c.500A>T p.Y167F Missense 6/6 - 2
X-153609294-C-G c.502C>G p.R168G Missense 6/6 - 1
X-153609294-CGC-TGA c.502_504delinsTGA p.R168* Nonsense 6/6 - 3
X-153609294-CG-GC c.502_503delinsGC p.R168A Missense 6/6 - 5
X-153609294-C-T c.502C>T p.R168C Missense 6/6 - 3
X-153609295-G-A c.503G>A p.R168H Missense 6/6 - 1
X-153609295-GC-AA c.503_504delinsAA p.R168Q Missense 6/6 - 1
X-153609298-C-A c.506C>A p.P169H Missense 6/6 - 1
X-153609300-GTT-ATG c.508_510delinsATG p.V170M Missense 6/6 - 1
X-153609301-T-C c.509T>C p.V170A Missense 6/6 - 1
X-153609302-T-C c.510T>C p.V170= Synonymous 6/6 - 1
X-153609303-T-G c.511T>G p.S171A Missense 6/6 - 1
X-153609304-C-A c.512C>A p.S171* Nonsense 6/6 - 3
X-153609304-C-G c.512C>G p.S171* Nonsense 6/6 - 2
X-153609306-G-A c.514G>A p.A172T Missense 6/6 - 1
X-153609306-G-C c.514G>C p.A172P Missense 6/6 - 1
X-153609306-GC-AT c.514_515delinsAT p.A172I Missense 6/6 - 2
X-153609306-GC-CG c.514_515delinsCG p.A172R Missense 6/6 - 1
X-153609306-GC-TT c.514_515delinsTT p.A172F Missense 6/6 - 1
X-153609307-C-T c.515C>T p.A172V Missense 6/6 - 2
X-153609310-C-G c.518C>G p.S173C Missense 6/6 - 1
X-153609311-C-A c.519C>A p.S173= Synonymous 6/6 - 1
X-153609311-C-G c.519C>G p.S173= Synonymous 6/6 - 1
X-153609311-C-T c.519C>T p.S173= Synonymous 6/6 - 3
X-153609312-AG-CA c.520_521delinsCA p.R174Q Missense 6/6 - 2
X-153609312-AG-GC c.520_521delinsGC p.R174A Missense 6/6 - 1
X-153609313-G-A c.521G>A p.R174K Missense 6/6 - 2
X-153609314-G-T c.522G>T p.R174S Missense 6/6 - 1
X-153609315-A-G c.523A>G p.S175G Missense 6/6 - 1
X-153609315-AG-GA c.523_524delinsGA p.S175D Missense 6/6 - 1
X-153609315-AG-GC c.523_524delinsGC p.S175A Missense 6/6 - 3
X-153609315-A-T c.523A>T p.S175C Missense 6/6 - 1
X-153609315-A-C c.523A>C p.S175R Missense 6/6 - 1
X-153609317-C-A c.525C>A p.S175R Missense 6/6 - 1
X-153609317-C-G c.525C>G p.S175R Missense 6/6 - 2
X-153609317-C-T c.525C>T p.S175= Synonymous 6/6 - 2
X-153609318-TCC-AAG c.526_528delinsAAG p.S176K Missense 6/6 - 1
X-153609318-TCC-GAG c.526_528delinsGAG p.S176E Missense 6/6 - 1
X-153609318-TC-GA c.526_527inv p.S176D Missense 6/6 - 1
X-153609318-TC-GT c.526_527delinsGT p.S176V Missense 6/6 - 2
X-153609318-T-G c.526T>G p.S176A Missense 6/6 - 2
X-153609319-CC-GG c.527_528inv p.S176W Missense 6/6 - 2
X-153609319-C-T c.527C>T p.S176F Missense 6/6 - 1
X-153609320-C-A c.528C>A p.S176= Synonymous 6/6 - 1
X-153609320-C-G c.528C>G p.S176= Synonymous 6/6 - 1
X-153609320-C-T c.528C>T p.S176= Synonymous 6/6 - 1
X-153609321-CTG-TTT c.529_531delinsTTT p.L177F Missense 6/6 - 1
X-153609324-G-A c.532G>A p.D178N Missense 6/6 - 1
X-153609325-A-C c.533A>C p.D178A Missense 6/6 - 2
X-153609328-T-C c.536T>C p.L179P Missense 6/6 - 1
X-153609329-G-A c.537G>A p.L179= Synonymous 6/6 - 1
X-153609331-C-A c.539C>A p.S180Y Missense 6/6 - 2
X-153609332-C-A c.540C>A p.S180= Synonymous 6/6 - 2
X-153609332-C-G c.540C>G p.S180= Synonymous 6/6 - 1
X-153609332-C-T c.540C>T p.S180= Synonymous 6/6 - 2
X-153609333-T-A c.541T>A p.Y181N Missense 6/6 - 5
X-153609333-TA-AT c.541_542delinsAT p.Y181I Missense 6/6 - 1
X-153609334-A-G c.542A>G p.Y181C Missense 6/6 - 7
X-153609334-A-T c.542A>T p.Y181F Missense 6/6 - 1
X-153609336-TA-CG c.544_545delinsCG p.Y182R Missense 6/6 - 1
X-153609336-TA-GC c.544_545delinsGC p.Y182A Missense 6/6 - 1
X-153609337-A-G c.545A>G p.Y182C Missense 6/6 - 1
X-153609337-A-T c.545A>T p.Y182F Missense 6/6 - 2
X-153609337-TATC-T c.545_547del p.Y182_P183delinsS MultiAAMissense 6/6 - 1
X-153609339-C-A c.547C>A p.P183T Missense 6/6 - 6
X-153609339-C-G c.547C>G p.P183A Missense 6/6 - 1
X-153609339-C-T c.547C>T p.P183S Missense 6/6 - 1
X-153609340-C-A c.548C>A p.P183H Missense 6/6 - 12
X-153609340-C-G c.548C>G p.P183R Missense 6/6 - 1
X-153609340-C-T c.548C>T p.P183L Missense 6/6 - 1
X-153609341-T-C c.549T>C p.P183= Synonymous 6/6 - 1
X-153609342-AC-GA c.550_551delinsGA p.T184D Missense 6/6 - 1
X-153609342-A-G c.550A>G p.T184A Missense 6/6 - 1
X-153609345-T-C c.553T>C p.S185P Missense 6/6 - 1
X-153609345-TC-GA c.553_554inv p.S185D Missense 6/6 - 1
X-153609345-T-G c.553T>G p.S185A Missense 6/6 - 1
X-153609346-C-T c.554C>T p.S185F Missense 6/6 - 6
X-153609348-TC-GA c.556_557inv p.S186D Missense 6/6 - 1
X-153609348-TC-GG c.556_557delinsGG p.S186G Missense 6/6 - 1
X-153609348-T-G c.556T>G p.S186A Missense 6/6 - 1
X-153609349-C-G c.557C>G p.S186C Missense 6/6 - 1
X-153609349-C-T c.557C>T p.S186F Missense 6/6 - 1
X-153609350-C-T c.558C>T p.S186= Synonymous 6/6 - 1
X-153609351-T-C c.559T>C p.S187P Missense 6/6 - 1
X-153609351-TC-GA c.559_560inv p.S187D Missense 6/6 - 1
X-153609352-C-T c.560C>T p.S187F Missense 6/6 - 2
X-153609354-A-C c.562A>C p.T188P Missense 6/6 - 1
X-153609354-AC-GA c.562_563delinsGA p.T188D Missense 6/6 - 1
X-153609354-A-G c.562A>G p.T188A Missense 6/6 - 1
X-153609357-T-G c.565T>G p.S189A Missense 6/6 - 1
X-153609358-C-T c.566C>T p.S189F Missense 6/6 - 1
X-153609360-T-C c.568T>C p.F190L Missense 6/6 - 1
X-153609362-T-A c.570T>A p.F190L Missense 6/6 - 1
X-153609362-T-G c.570T>G p.F190L Missense 6/6 - 1
X-153609363-A-G c.571A>G p.M191V Missense 6/6 - 2
X-153609363-AT-GC c.571_572delinsGC p.M191A Missense 6/6 - 1
X-153609364-T-C c.572T>C p.M191T Missense 6/6 - 1
X-153609366-T-C c.574T>C p.S192P Missense 6/6 - 1
X-153609366-TC-AA c.574_575delinsAA p.S192N Missense 6/6 - 1
X-153609366-TCC-GAG c.574_576delinsGAG p.S192E Missense 6/6 - 1
X-153609366-T-G c.574T>G p.S192A Missense 6/6 - 1
X-153609367-C-T c.575C>T p.S192F Missense 6/6 - 2
X-153609369-TC-GA c.577_578inv p.S193D Missense 6/6 - 2
X-153609369-T-G c.577T>G p.S193A Missense 6/6 - 2
X-153609370-C-G c.578C>G p.S193C Missense 6/6 - 2
X-153609365-GTCC-G c.579_581del p.S199del InFrameDeletion 6/6 - 3
X-153609371-C-A c.579C>A p.S193= Synonymous 6/6 - 1
X-153609372-TCA-AAC c.580_582delinsAAC p.S194N Missense 6/6 - 1
X-153609372-TC-AG c.580_581delinsAG p.S194R Missense 6/6 - 1
X-153609373-C-T c.581C>T p.S194L Missense 6/6 - 4
X-153609373-TCA-T c.581_582del p.S194Ffs*15 Frameshift 6/6 - 1
X-153609374-A-C c.582A>C p.S194= Synonymous 6/6 - 1
X-153609374-A-G c.582A>G p.S194= Synonymous 6/6 - 1
X-153609375-T-A c.583T>A p.S195T Missense 6/6 - 1
X-153609375-T-C c.583T>C p.S195P Missense 6/6 - 1
X-153609375-TCA-GAC c.583_585delinsGAC p.S195D Missense 6/6 - 1
X-153609375-T-G c.583T>G p.S195A Missense 6/6 - 8
X-153609376-C-A c.584C>A p.S195* Nonsense 6/6 - 2
X-153609376-CA-GT c.584_585delinsGT p.S195C Missense 6/6 - 1
X-153609377-A-G c.585A>G p.S195= Synonymous 6/6 - 1
X-153609378-T-C c.586T>C p.S196P Missense 6/6 - 1
X-153609378-TC-CT c.586_587delinsCT p.S196L Missense 6/6 - 2
X-153609379-C-G c.587C>G p.S196C Missense 6/6 - 1
X-153609379-C-T c.587C>T p.S196F Missense 6/6 - 4
X-153609380-T-A c.588T>A p.S196= Synonymous 6/6 - 1
X-153609380-T-C c.588T>C p.S196= Synonymous 6/6 - 1
X-153609380-T-G c.588T>G p.S196= Synonymous 6/6 - 1
X-153609381-TC-GA c.589_590inv p.S197D Missense 6/6 - 1
X-153609381-T-G c.589T>G p.S197A Missense 6/6 - 1
X-153609382-C-G c.590C>G p.S197C Missense 6/6 - 1
X-153609382-C-T c.590C>T p.S197F Missense 6/6 - 1
X-153609383-C-A c.591C>A p.S197= Synonymous 6/6 - 1
X-153609383-C-G c.591C>G p.S197= Synonymous 6/6 - 2
X-153609383-C-T c.591C>T p.S197= Synonymous 6/6 - 2
X-153609384-T-C c.592T>C p.S198P Missense 6/6 - 1
X-153609384-TC-GA c.592_593inv p.S198D Missense 6/6 - 2
X-153609384-T-G c.592T>G p.S198A Missense 6/6 - 1
X-153609385-C-T c.593C>T p.S198F Missense 6/6 - 2
X-153609387-TCA-AAC c.595_597delinsAAC p.S199N Missense 6/6 - 1
X-153609387-TC-GA c.595_596inv p.S199E Missense 6/6 - 1
X-153609388-CA-GT c.596_597delinsGT p.S199C Missense 6/6 - 1
X-153609388-C-G c.596C>G p.S199* Nonsense 6/6 - 1
X-153609388-C-T c.596C>T p.S199L Missense 6/6 - 2
X-153609390-T-A c.598T>A p.W200R Missense 6/6 - 1
X-153609390-T-C c.598T>C p.W200R Missense 6/6 - 3
X-153609391-G-A c.599G>A p.W200* Nonsense 6/6 - 1
X-153609392-G-A c.600G>A p.W200* Nonsense 6/6 - 3
X-153609393-C-G c.601C>G p.L201V Missense 6/6 - 1
X-153609395-C-T c.603C>T p.L201= Synonymous 6/6 - 1
X-153609396-A-C c.604A>C p.T202P Missense 6/6 - 2
X-153609396-AC-TA c.604_605delinsTA p.T202Y Missense 6/6 - 1
X-153609396-AC-TG c.604_605delinsTG p.T202C Missense 6/6 - 5
X-153609396-A-G c.604A>G p.T202A Missense 6/6 - 1
X-153609396-AC-A c.607del p.R203Afs*34 Frameshift 6/6 - 1
X-153609399-C-A c.607C>A p.R203S Missense 6/6 - 1
X-153609399-CGC-AAG c.607_609delinsAAG p.R203K Missense 6/6 - 2
X-153609399-CGC-ATG c.607_609delinsATG p.R203M Missense 6/6 - 1
X-153609399-CG-GC c.607_608delinsGC p.R203A Missense 6/6 - 1
X-153609399-C-T c.607C>T p.R203C Missense 6/6 - 1
X-153609400-G-A c.608G>A p.R203H Missense 6/6 - 6
X-153609402-C-A c.610C>A p.R204S Missense 6/6 - 4
X-153609402-C-G c.610C>G p.R204G Missense 6/6 - 3
X-153609402-CG-AC c.610_611delinsAC p.R204T Missense 6/6 - 1
X-153609402-CGT-TGG c.610_612delinsTGG p.R204W Missense 6/6 - 1
X-153609402-C-T c.610C>T p.R204C Missense 6/6 - 5
X-153609403-G-A c.611G>A p.R204H Missense 6/6 - 2
X-153609405-GCC-AAG c.613_615delinsAAG p.A205K Missense 6/6 - 1
X-153609410-C-T c.618C>T p.I206= Synonymous 6/6 - 2
X-153609411-C-G c.619C>G p.R207G Missense 6/6 - 1
X-153609411-CGG-TGT c.619_621delinsTGT p.R207C Missense 6/6 - 1
X-153609410-CCGG-C c.620_622del p.R207del InFrameDeletion 6/6 - 1
X-153609412-G-A c.620G>A p.R207Q Missense 6/6 - 2
X-153609412-G-C c.620G>C p.R207P Missense 6/6 - 2
X-153609411-CG-C c.621del p.P208Lfs*29 Frameshift 6/6 - 2
X-153609413-G-T c.621G>T p.R207= Synonymous 6/6 - 1
X-153609414-CC-TG c.622_623delinsTG p.P208C Missense 6/6 - 1
X-153609415-C-T c.623C>T p.P208L Missense 6/6 - 1
X-153609416-T-A c.624T>A p.P208= Synonymous 6/6 - 1
X-153609416-T-G c.624T>G p.P208= Synonymous 6/6 - 1
X-153609417-G-C c.625G>C p.E209Q Missense 6/6 - 1
X-153609418-A-C c.626A>C p.E209A Missense 6/6 - 1
X-153609423-CGT-AAG c.631_633delinsAAG p.R211K Missense 6/6 - 1
X-153609423-CGT-GAG c.631_633delinsGAG p.R211E Missense 6/6 - 1
X-153609423-C-T c.631C>T p.R211C Missense 6/6 - 9
X-153609424-G-A c.632G>A p.R211H Missense 6/6 - 2
X-153609431-T-C c.639T>C p.P213= Synonymous 6/6 - 1
X-153609432-GGG-TGT c.640_642delinsTGT p.G214C Missense 6/6 - 2
X-153609432-GG-TA c.640_641delinsTA p.G214* Nonsense 6/6 - 1
X-153609432-G-T c.640G>T p.G214W Missense 6/6 - 2
X-153609433-G-A c.641G>A p.G214E Missense 6/6 - 1
X-153609433-G-C c.641G>C p.G214A Missense 6/6 - 1
X-153609434-G-T c.642G>T p.G214= Synonymous 6/6 - 1
X-153609435-GC-CT c.643_644delinsCT p.A215L Missense 6/6 - 1
X-153609435-GCT-CAA c.643_645delinsCAA p.A215Q Missense 6/6 - 1
X-153609435-GC-TG c.643_644delinsTG p.A215C Missense 6/6 - 2
X-153609436-C-A c.644C>A p.A215D Missense 6/6 - 1
X-153609438-G-A c.646G>A p.G216R Missense 6/6 - 4
X-153609438-G-C c.646G>C p.G216R Missense 6/6 - 1
X-153609438-GG-TA c.646_647delinsTA p.G216* Nonsense 6/6 - 1
X-153609439-G-A c.647G>A p.G216E Missense 6/6 - 1
X-153609441-C-G c.649C>G p.L217V Missense 6/6 - 1
X-153609441-CTG-TTT c.649_651delinsTTT p.L217F Missense 6/6 - 1
X-153609432-GGGGCT-G c.650_654del p.L217Pfs*31 Frameshift 6/6 - 1
X-153609442-T-A c.650T>A p.L217Q Missense 6/6 - 1
X-153609442-T-C c.650T>C p.L217P Missense 6/6 - 1
X-153609441-C-T c.649C>T p.L217= Synonymous 6/6 - 1
X-153609443-G-A c.651G>A p.L217= Synonymous 6/6 - 2
X-153609443-G-C c.651G>C p.L217= Synonymous 6/6 - 1
X-153609443-G-T c.651G>T p.L217= Synonymous 6/6 - 1
X-153609445-G-A c.653G>A p.G218D Missense 6/6 - 1
X-153609446-C-A c.654C>A p.G218= Synonymous 6/6 - 1
X-153609446-C-CTGGGCATTTAGCTAA c.654_655insTGGGCATTTAGCTAA p.G218_Q219insWAFS* InFrameInsertion 6/6 - 1
X-153609446-C-G c.654C>G p.G218= Synonymous 6/6 - 1
X-153609446-C-T c.654C>T p.G218= Synonymous 6/6 - 4
X-153609447-C-T c.655C>T p.Q219* Nonsense 6/6 - 1
X-153609448-A-T c.656A>T p.Q219L Missense 6/6 - 1
X-153609450-G-A c.658G>A p.D220N Missense 6/6 - 2
X-153609450-GA-CG c.658_659delinsCG p.D220R Missense 6/6 - 1
X-153609450-GAT-AAG c.658_660delinsAAG p.D220K Missense 6/6 - 1
X-153609450-GA-TT c.658_659delinsTT p.D220F Missense 6/6 - 1
X-153609450-G-C c.658G>C p.D220H Missense 6/6 - 1
X-153609451-A-C c.659A>C p.D220A Missense 6/6 - 1
X-153609451-A-G c.659A>G p.D220G Missense 6/6 - 1
X-153609453-C-G c.661C>G p.R221G Missense 6/6 - 3
X-153609453-CGC-AAG c.661_663delinsAAG p.R221K Missense 6/6 - 1
X-153609453-CG-GC c.661_662delinsGC p.R221A Missense 6/6 - 2
X-153609453-C-T c.661C>T p.R221C Missense 6/6 - 5
X-153609454-G-A c.662G>A p.R221H Missense 6/6 - 5
X-153609454-G-T c.662G>T p.R221L Missense 6/6 - 1
X-153609456-C-A c.664C>A p.Q222K Missense 6/6 - 1
X-153609456-C-T c.664C>T p.Q222* Nonsense 6/6 - 1
X-153609459-G-A c.667G>A p.V223I Missense 6/6 - 2
X-153609460-T-A c.668T>A p.V223D Missense 6/6 - 1
X-153609460-T-C c.668T>C p.V223A Missense 6/6 - 1
X-153609462-C-A c.670C>A p.P224T Missense 6/6 - 1
X-153609462-C-G c.670C>G p.P224A Missense 6/6 - 1
X-153609463-C-T c.671C>T p.P224L Missense 6/6 - 3
X-153609464-G-A c.672G>A p.P224= Synonymous 6/6 - 1
X-153609465-C-G c.673C>G p.L225V Missense 6/6 - 1
X-153609466-CTCTGG-C c.674_678del p.L225Rfs*23 Frameshift 6/6 - 1
X-153609469-G-A c.677G>A p.W226* Nonsense 6/6 - 2
X-153609469-G-C c.677G>C p.W226S Missense 6/6 - 1
X-153609469-G-T c.677G>T p.W226L Missense 6/6 - 2
X-153609470-G-A c.678G>A p.W226* Nonsense 6/6 - 1
X-153609470-G-C c.678G>C p.W226C Missense 6/6 - 1
X-153609470-G-T c.678G>T p.W226C Missense 6/6 - 1
X-153609468-TG-T c.680del p.G227Afs*10 Frameshift 6/6 - 1
X-153609472-G-A c.680G>A p.G227D Missense 6/6 - 1
X-153609472-G-T c.680G>T p.G227V Missense 6/6 - 1
X-153609474-C-A c.682C>A p.Q228K Missense 6/6 - 2
X-153609474-CA-GC c.682_683delinsGC p.Q228A Missense 6/6 - 1
X-153609476-G-A c.684G>A p.Q228= Synonymous 6/6 - 2
X-153609477-CT-GA c.685_686delinsGA p.L229E Missense 6/6 - 2
X-153609477-CT-GC c.685_686delinsGC p.L229A Missense 6/6 - 1
X-153609480-C-T c.688C>T p.L230= Synonymous 6/6 - 1
X-153609475-AGCT-A c.690_692del p.L231del InFrameDeletion 6/6 - 2
X-153609483-CT-GC c.691_692delinsGC p.L231A Missense 6/6 - 1
X-153609486-TT-GC c.694_695delinsGC p.F232A Missense 6/6 - 2
X-153609489-C-T c.697C>T p.L233= Synonymous 6/6 - 1
X-153609489-CT-AA c.697_698delinsAA p.L233K Missense 6/6 - 1
X-153609489-CT-GC c.697_698delinsGC p.L233A Missense 6/6 - 1
X-153609489-CTG-TTT c.697_699delinsTTT p.L233F Missense 6/6 - 1
X-153609492-G-T c.700G>T p.V234F Missense 6/6 - 1
X-153609493-T-C c.701T>C p.V234A Missense 6/6 - 1
X-153609494-C-T c.702C>T p.V234= Synonymous 6/6 - 1
X-153609495-T-C c.703T>C p.F235L Missense 6/6 - 1
X-153609496-T-C c.704T>C p.F235S Missense 6/6 - 2
X-153609499-T-A c.707T>A p.V236E Missense 6/6 - 1
X-153609499-T-C c.707T>C p.V236A Missense 6/6 - 1
X-153609500-G-T c.708G>T p.V236= Synonymous 6/6 - 1
X-153609501-A-T c.709A>T p.I237F Missense 6/6 - 1
X-153609501-AT-GC c.709_710delinsGC p.I237A Missense 6/6 - 1
X-153609503-C-G c.711C>G p.I237M Missense 6/6 - 2
X-153609503-C-T c.711C>T p.I237= Synonymous 6/6 - 2
X-153609504-CGTCCT-C c.712_716del p.V238Lfs*10 Frameshift 6/6 - 1
X-153609504-G-A c.712G>A p.V238I Missense 6/6 - 6
X-153609506-C-G c.714C>G p.V238= Synonymous 6/6 - 1
X-153609506-C-T c.714C>T p.V238= Synonymous 6/6 - 1
X-153609507-CCTCTTCTTCATTT-C c.715_727del p.L239Tfs*115 Frameshift 6/6 - 1
X-153609507-C-T c.715C>T p.L239F Missense 6/6 - 1
X-153609507-CT-AG c.715_716inv p.L239S Missense 6/6 - 1
X-153609506-CCT-C c.717_718del p.F240Lfs*9 Frameshift 6/6 - 1
X-153609509-C-T c.717C>T p.L239= Synonymous 6/6 - 1
X-153609510-T-C c.718T>C p.F240L Missense 6/6 - 3
X-153609512-C-G c.720C>G p.F240L Missense 6/6 - 2
X-153609512-C-A c.720C>A p.F240L Missense 6/6 - 3
X-153609512-C-T c.720C>T p.F240= Synonymous 6/6 - 1
X-153609514-T-C c.722T>C p.F241S Missense 6/6 - 1
X-153609516-A-G c.724A>G p.I242V Missense 6/6 - 1
X-153609517-T-G c.725T>G p.I242S Missense 6/6 - 1
X-153609518-T-G c.726T>G p.I242M Missense 6/6 - 1
X-153609520-A-C c.728A>C p.Y243S Missense 6/6 - 3
X-153609522-C-A c.730C>A p.H244N Missense 6/6 - 2
X-153609522-C-T c.730C>T p.H244Y Missense 6/6 - 1
X-153609523-A-G c.731A>G p.H244R Missense 6/6 - 1
X-153609526-T-A c.734T>A p.F245Y Missense 6/6 - 1
X-153609526-T-C c.734T>C p.F245S Missense 6/6 - 1
X-153609526-T-G c.734T>G p.F245C Missense 6/6 - 1
X-153609531-CA-GC c.739_740delinsGC p.Q247A Missense 6/6 - 1
X-153609532-A-G c.740A>G p.Q247R Missense 6/6 - 1
X-153609534-GC-TG c.742_743delinsTG p.A248C Missense 6/6 - 1
X-153609536-T-G c.744T>G p.A248= Synonymous 6/6 - 1
X-153609537-G-C c.745G>C p.E249Q Missense 6/6 - 1
X-153609538-A-G c.746A>G p.E249G Missense 6/6 - 4
X-153609540-G-A c.748G>A p.E250K Missense 6/6 - 1
X-153609540-G-C c.748G>C p.E250Q Missense 6/6 - 1
X-153609540-G-T c.748G>T p.E250* Nonsense 6/6 - 4
X-153609542-A-C c.750A>C p.E250D Missense 6/6 - 1
X-153609542-A-T c.750A>T p.E250D Missense 6/6 - 1
X-153609543-G-C c.751G>C p.G251R Missense 6/6 - 1
X-153609543-GG-TA c.751_752delinsTA p.G251Y Missense 6/6 - 1
X-153609544-G-T c.752G>T p.G251V Missense 6/6 - 3
X-153609547-A-G c.755A>G p.N252S Missense 6/6 - 2
X-153609550-C-A c.758C>A p.P253H Missense 6/6 - 1
X-153609550-C-T c.758C>T p.P253L Missense 6/6 - 1
X-153609551-C-G c.759C>G p.P253= Synonymous 6/6 - 1
X-153609554-C-T c.762C>T p.F254= Synonymous 6/6 - 1
X-153609584-G-A c.*27G>A - 3-UTRSNV 6/6 - 1
X-153609584-G-C c.*27G>C - 3-UTRSNV 6/6 - 1
X-153609616-G-C c.*59G>C - 3-UTRSNV 6/6 - 4
X-153609617-C-T c.*60C>T - 3-UTRSNV 6/6 - 6
X-153609624-A-G c.*67A>G - 3-UTRSNV 6/6 - 1
X-153609626-T-G c.*69T>G - 3-UTRSNV 6/6 - 1
X-153609645-A-G c.*88A>G - 3-UTRSNV 6/6 - 2