GJB1

GJB1 gap junction protein beta 1

Annotation transcript: NM_000166.6

772 unique variant annotations were identified in 444 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-70443093-C-T c.-109C>T - 5_prime_UTR_variant 1/2 - 1
X-70443100-G-A c.-102G>A - 5_prime_UTR_variant 1/2 - 1
X-70443100-G-C c.-102G>C - 5_prime_UTR_variant 1/2 - 1
X-70443101-C-T c.-101C>T - 5_prime_UTR_variant 1/2 - 1
X-70443102-G-A c.-100G>A - 5_prime_UTR_variant 1/2 - 1
X-70443552-G-A c.-6G>A - 5-UTRSNV 2/2 - 1
X-70443559-T-C c.2T>C p.M1? Missense 2/2 - 1
X-70443560-G-A c.3G>A p.M1? Missense 2/2 - 4
X-70443560-G-C c.3G>C p.M1? Missense 2/2 - 4
X-70443560-G-T c.3G>T p.M1? Missense 2/2 - 6
X-70443562-A-G c.5A>G p.N2S Missense 2/2 - 1
X-70443563-C-A c.6C>A p.N2K Missense 2/2 - 2
X-70443563-C-G c.6C>G p.N2K Missense 2/2 - 2
X-70443563-C-T c.6C>T p.N2= Synonymous 2/2 - 1
X-70443564-T-G c.7T>G p.W3G Missense 2/2 - 1
X-70443565-G-A c.8G>A p.W3* Nonsense 2/2 - 3
X-70443565-G-T c.8G>T p.W3L Missense 2/2 - 1
X-70443566-G-A c.9G>A p.W3* Nonsense 2/2 - 2
X-70443568-C-A c.11C>A p.T4K Missense 2/2 - 2
X-70443569-A-G c.12A>G p.T4= Synonymous 2/2 - 1
X-70443570-G-T c.13G>T p.G5C Missense 2/2 - 1
X-70443574-T-C c.17T>C p.L6S Missense 2/2 - 2
X-70443577-A-G c.20A>G p.Y7C Missense 2/2 - 1
X-70443579-A-C c.22A>C p.T8P Missense 2/2 - 1
X-70443579-A-T c.22A>T p.T8S Missense 2/2 - 1
X-70443580-C-T c.23C>T p.T8I Missense 2/2 - 2
X-70443583-T-G c.26T>G p.L9W Missense 2/2 - 1
X-70443584-G-C c.27G>C p.L9F Missense 2/2 - 1
X-70443584-G-T c.27G>T p.L9F Missense 2/2 - 1
X-70443587-C-T c.30C>T p.L10= Synonymous 2/2 - 2
X-70443588-A-G c.31A>G p.S11G Missense 2/2 - 2
X-70443588-A-T c.31A>T p.S11C Missense 2/2 - 1
X-70443591-G-A c.34G>A p.G12S Missense 2/2 - 14
X-70443591-G-C c.34G>C p.G12R Missense 2/2 - 6
X-70443591-GG-CC c.34_35inv p.G12P Missense 2/2 - 4
X-70443591-GG-TA c.34_35delinsTA p.G12Y Missense 2/2 - 3
X-70443591-G-T c.34G>T p.G12C Missense 2/2 - 1
X-70443592-G-A c.35G>A p.G12D Missense 2/2 - 3
X-70443592-G-T c.35G>T p.G12V Missense 2/2 - 3
X-70443594-G-A c.37G>A p.V13M Missense 2/2 - 3
X-70443594-G-C c.37G>C p.V13L Missense 2/2 - 4
X-70443594-G-T c.37G>T p.V13L Missense 2/2 - 4
X-70443597-A-G c.40A>G p.N14D Missense 2/2 - 1
X-70443597-A-T c.40A>T p.N14Y Missense 2/2 - 3
X-70443598-A-G c.41A>G p.N14S Missense 2/2 - 1
X-70443599-C-A c.42C>A p.N14K Missense 2/2 - 6
X-70443599-C-G c.42C>G p.N14K Missense 2/2 - 5
X-70443600-C-T c.43C>T p.R15W Missense 2/2 - 19
X-70443601-G-A c.44G>A p.R15Q Missense 2/2 - 18
X-70443601-G-T c.44G>T p.R15L Missense 2/2 - 3
X-70443604-A-C c.47A>C p.H16P Missense 2/2 - 3
X-70443604-A-T c.47A>T p.H16L Missense 2/2 - 1
X-70443607-C-A c.50C>A p.S17Y Missense 2/2 - 1
X-70443607-C-G c.50C>G p.S17C Missense 2/2 - 1
X-70443607-C-T c.50C>T p.S17F Missense 2/2 - 1
X-70443609-A-T c.52A>T p.T18S Missense 2/2 - 1
X-70443610-C-G c.53C>G p.T18S Missense 2/2 - 2
X-70443613-C-G c.56C>G p.A19G Missense 2/2 - 1
X-70443613-C-T c.56C>T p.A19V Missense 2/2 - 3
X-70443614-C-A c.57C>A p.A19= Synonymous 2/2 - 2
X-70443614-C-G c.57C>G p.A19= Synonymous 2/2 - 2
X-70443614-C-T c.57C>T p.A19= Synonymous 2/2 - 2
X-70443615-A-T c.58A>T p.I20F Missense 2/2 - 3
X-70443616-T-C c.59T>C p.I20T Missense 2/2 - 3
X-70443616-T-G c.59T>G p.I20S Missense 2/2 - 6
X-70443618-G-C c.61G>C p.G21R Missense 2/2 - 1
X-70443618-GG-AA c.61_62delinsAA p.G21N Missense 2/2 - 1
X-70443619-G-A c.62G>A p.G21D Missense 2/2 - 5
X-70443621-C-G c.64C>G p.R22G Missense 2/2 - 6
X-70443621-CGA-AGC c.64_66delinsAGC p.R22S Missense 2/2 - 1
X-70443621-CG-GA c.64_65delinsGA p.R22E Missense 2/2 - 1
X-70443621-C-T c.64C>T p.R22* Nonsense 2/2 - 7
X-70443622-G-A c.65G>A p.R22Q Missense 2/2 - 16
X-70443622-G-C c.65G>C p.R22P Missense 2/2 - 5
X-70443622-G-T c.65G>T p.R22L Missense 2/2 - 1
X-70443624-G-A c.67G>A p.V23I Missense 2/2 - 1
X-70443625-T-C c.68T>C p.V23A Missense 2/2 - 2
X-70443628-G-A c.71G>A p.W24* Nonsense 2/2 - 2
X-70443629-G-A c.72G>A p.W24* Nonsense 2/2 - 2
X-70443629-G-C c.72G>C p.W24C Missense 2/2 - 5
X-70443629-G-T c.72G>T p.W24C Missense 2/2 - 5
X-70443630-C-T c.73C>T p.L25F Missense 2/2 - 4
X-70443631-T-C c.74T>C p.L25P Missense 2/2 - 2
X-70443634-C-G c.77C>G p.S26W Missense 2/2 - 7
X-70443634-C-T c.77C>T p.S26L Missense 2/2 - 25
X-70443635-G-A c.78G>A p.S26= Synonymous 2/2 - 1
X-70443635-G-C c.78G>C p.S26= Synonymous 2/2 - 1
X-70443635-G-T c.78G>T p.S26= Synonymous 2/2 - 1
X-70443636-G-A c.79G>A p.V27I Missense 2/2 - 2
X-70443636-GTC-TGG c.79_81delinsTGG p.V27W Missense 2/2 - 1
X-70443637-T-A c.80T>A p.V27D Missense 2/2 - 1
X-70443637-T-C c.80T>C p.V27A Missense 2/2 - 1
X-70443638-C-T c.81C>T p.V27= Synonymous 2/2 - 1
X-70443639-ATC-TGG c.82_84delinsTGG p.I28W Missense 2/2 - 1
X-70443640-T-A c.83T>A p.I28N Missense 2/2 - 4
X-70443640-T-C c.83T>C p.I28T Missense 2/2 - 3
X-70443642-T-C c.85T>C p.F29L Missense 2/2 - 2
X-70443644-C-A c.87C>A p.F29L Missense 2/2 - 2
X-70443644-C-G c.87C>G p.F29L Missense 2/2 - 2
X-70443643-TC-GG c.86_87delinsGG p.F29W Missense 2/2 - 1
X-70443644-C-T c.87C>T p.F29= Synonymous 2/2 - 1
X-70443645-A-T c.88A>T p.I30F Missense 2/2 - 2
X-70443645-ATC-TGG c.88_90delinsTGG p.I30W Missense 2/2 - 1
X-70443645-AT-TG c.88_89delinsTG p.I30C Missense 2/2 - 1
X-70443646-T-A c.89T>A p.I30N Missense 2/2 - 4
X-70443646-T-C c.89T>C p.I30T Missense 2/2 - 2
X-70443649-T-C c.92T>C p.F31S Missense 2/2 - 1
X-70443649-TC-GG c.92_93delinsGG p.F31W Missense 2/2 - 1
X-70443649-T-G c.92T>G p.F31C Missense 2/2 - 1
X-70443651-A-G c.94A>G p.R32G Missense 2/2 - 4
X-70443651-AGA-TGG c.94_96delinsTGG p.R32W Missense 2/2 - 1
X-70443651-AGA-TGT c.94_96delinsTGT p.R32C Missense 2/2 - 1
X-70443651-AG-GA c.94_95delinsGA p.R32E Missense 2/2 - 2
X-70443652-G-A c.95G>A p.R32K Missense 2/2 - 2
X-70443651-A-C c.94A>C p.R32= Synonymous 2/2 - 1
X-70443653-A-G c.96A>G p.R32= Synonymous 2/2 - 1
X-70443654-ATC-TGG c.97_99delinsTGG p.I33W Missense 2/2 - 1
X-70443654-AT-TG c.97_98delinsTG p.I33C Missense 2/2 - 1
X-70443655-T-A c.98T>A p.I33N Missense 2/2 - 3
X-70443655-T-C c.98T>C p.I33T Missense 2/2 - 2
X-70443656-C-G c.99C>G p.I33M Missense 2/2 - 2
X-70443657-A-G c.100A>G p.M34V Missense 2/2 - 5
X-70443657-AT-GC c.100_101delinsGC p.M34A Missense 2/2 - 4
X-70443657-ATG-TGT c.100_102delinsTGT p.M34C Missense 2/2 - 1
X-70443657-AT-TG c.100_101delinsTG p.M34W Missense 2/2 - 2
X-70443658-T-A c.101T>A p.M34K Missense 2/2 - 6
X-70443658-T-C c.101T>C p.M34T Missense 2/2 - 17
X-70443658-TG-GC c.101_102delinsGC p.M34S Missense 2/2 - 1
X-70443659-G-A c.102G>A p.M34I Missense 2/2 - 4
X-70443659-G-C c.102G>C p.M34I Missense 2/2 - 2
X-70443659-G-T c.102G>T p.M34I Missense 2/2 - 2
X-70443660-G-A c.103G>A p.V35M Missense 2/2 - 11
X-70443660-G-C c.103G>C p.V35L Missense 2/2 - 3
X-70443660-G-T c.103G>T p.V35L Missense 2/2 - 1
X-70443660-GTG-TGT c.103_105delinsTGT p.V35C Missense 2/2 - 1
X-70443660-GT-TG c.103_104delinsTG p.V35W Missense 2/2 - 1
X-70443661-T-C c.104T>C p.V35A Missense 2/2 - 1
X-70443663-CT-GC c.106_107delinsGC p.L36A Missense 2/2 - 1
X-70443663-CT-TG c.106_107delinsTG p.L36W Missense 2/2 - 1
X-70443666-G-A c.109G>A p.V37M Missense 2/2 - 2
X-70443666-GTG-ATC c.109_111delinsATC p.V37I Missense 2/2 - 2
X-70443666-GT-TG c.109_110delinsTG p.V37W Missense 2/2 - 1
X-70443667-GT-G c.110del p.V37Gfs*47 Frameshift 2/2 - 1
X-70443669-G-A c.112G>A p.V38M Missense 2/2 - 9
X-70443669-GT-TG c.112_113delinsTG p.V38W Missense 2/2 - 1
X-70443670-T-C c.113T>C p.V38A Missense 2/2 - 3
X-70443670-T-G c.113T>G p.V38G Missense 2/2 - 1
X-70443672-G-C c.115G>C p.A39P Missense 2/2 - 4
X-70443672-GC-TG c.115_116delinsTG p.A39C Missense 2/2 - 1
X-70443672-GCT-TGG c.115_117delinsTGG p.A39W Missense 2/2 - 1
X-70443672-G-T c.115G>T p.A39S Missense 2/2 - 2
X-70443673-C-T c.116C>T p.A39V Missense 2/2 - 17
X-70443675-G-A c.118G>A p.A40T Missense 2/2 - 4
X-70443675-G-T c.118G>T p.A40S Missense 2/2 - 2
X-70443676-C-T c.119C>T p.A40V Missense 2/2 - 9
X-70443678-G-A c.121G>A p.E41K Missense 2/2 - 3
X-70443680-G-C c.123G>C p.E41D Missense 2/2 - 6
X-70443680-G-GT c.123_124insT p.S42* Nonsense 2/2 - 2
X-70443680-G-T c.123G>T p.E41D Missense 2/2 - 6
X-70443676-CAG-C c.124_125del p.S42Cfs*4 Frameshift 2/2 - 1
X-70443681-AGT-GAG c.124_126delinsGAG p.S42E Missense 2/2 - 1
X-70443684-G-A c.127G>A p.V43M Missense 2/2 - 2
X-70443687-T-C c.130T>C p.W44R Missense 2/2 - 1
X-70443687-T-G c.130T>G p.W44G Missense 2/2 - 1
X-70443688-G-A c.131G>A p.W44* Nonsense 2/2 - 1
X-70443688-G-C c.131G>C p.W44S Missense 2/2 - 2
X-70443688-G-T c.131G>T p.W44L Missense 2/2 - 2
X-70443689-G-A c.132G>A p.W44* Nonsense 2/2 - 3
X-70443689-G-C c.132G>C p.W44C Missense 2/2 - 3
X-70443689-G-T c.132G>T p.W44C Missense 2/2 - 2
X-70443691-GT-AG c.134_135delinsAG p.G45E Missense 2/2 - 7
X-70443694-A-G c.137A>G p.D46G Missense 2/2 - 1
X-70443696-G-A c.139G>A p.E47K Missense 2/2 - 2
X-70443696-G-C c.139G>C p.E47Q Missense 2/2 - 1
X-70443699-A-C c.142A>C p.K48Q Missense 2/2 - 1
X-70443702-T-C c.145T>C p.S49P Missense 2/2 - 3
X-70443702-TC-CT c.145_146delinsCT p.S49L Missense 2/2 - 1
X-70443703-C-A c.146C>A p.S49Y Missense 2/2 - 6
X-70443704-T-C c.147T>C p.S49= Synonymous 2/2 - 1
X-70443705-T-C c.148T>C p.S50P Missense 2/2 - 3
X-70443705-TC-GT c.148_149delinsGT p.S50V Missense 2/2 - 1
X-70443706-C-T c.149C>T p.S50F Missense 2/2 - 2
X-70443708-T-C c.151T>C p.F51L Missense 2/2 - 6
X-70443710-C-A c.153C>A p.F51L Missense 2/2 - 4
X-70443710-C-G c.153C>G p.F51L Missense 2/2 - 4
X-70443709-T-G c.152T>G p.F51C Missense 2/2 - 1
X-70443712-AT-A c.155del p.I52Tfs*32 Frameshift 2/2 - 1
X-70443712-ATCTG-A c.155_158del p.I52Tfs*31 Frameshift 2/2 - 1
X-70443712-T-C c.155T>C p.I52T Missense 2/2 - 1
X-70443714-T-A c.157T>A p.C53S Missense 2/2 - 7
X-70443715-G-C c.158G>C p.C53S Missense 2/2 - 7
X-70443716-C-T c.159C>T p.C53= Synonymous 2/2 - 1
X-70443717-A-C c.160A>C p.N54H Missense 2/2 - 1
X-70443718-A-G c.161A>G p.N54S Missense 2/2 - 3
X-70443719-C-A c.162C>A p.N54K Missense 2/2 - 1
X-70443719-C-G c.162C>G p.N54K Missense 2/2 - 1
X-70443720-A-G c.163A>G p.T55A Missense 2/2 - 2
X-70443721-CA-AC c.164_165delinsAC p.T55N Missense 2/2 - 2
X-70443721-CA-TG c.164_165inv p.T55M Missense 2/2 - 1
X-70443721-C-G c.164C>G p.T55R Missense 2/2 - 5
X-70443721-C-T c.164C>T p.T55I Missense 2/2 - 22
X-70443723-C-T c.166C>T p.L56F Missense 2/2 - 4
X-70443728-G-C c.171G>C p.Q57H Missense 2/2 - 2
X-70443728-G-T c.171G>T p.Q57H Missense 2/2 - 2
X-70443729-C-G c.172C>G p.P58A Missense 2/2 - 1
X-70443729-C-T c.172C>T p.P58S Missense 2/2 - 3
X-70443730-C-G c.173C>G p.P58R Missense 2/2 - 3
X-70443732-G-C c.175G>C p.G59R Missense 2/2 - 3
X-70443732-G-T c.175G>T p.G59C Missense 2/2 - 2
X-70443733-G-C c.176G>C p.G59A Missense 2/2 - 1
X-70443733-G-T c.176G>T p.G59V Missense 2/2 - 1
X-70443735-T-C c.178T>C p.C60R Missense 2/2 - 1
X-70443736-G-A c.179G>A p.C60Y Missense 2/2 - 4
X-70443736-G-T c.179G>T p.C60F Missense 2/2 - 5
X-70443739-A-AC c.183dup p.S62Qfs*5 Frameshift 2/2 - 1
X-70443742-G-C c.185G>C p.S62T Missense 2/2 - 1
X-70443741-A-C c.184A>C p.S62R Missense 2/2 - 1
X-70443743-C-A c.186C>A p.S62R Missense 2/2 - 1
X-70443743-C-G c.186C>G p.S62R Missense 2/2 - 1
X-70443743-C-T c.186C>T p.S62= Synonymous 2/2 - 1
X-70443744-G-A c.187G>A p.V63I Missense 2/2 - 10
X-70443744-G-T c.187G>T p.V63F Missense 2/2 - 1
X-70443747-T-A c.190T>A p.C64S Missense 2/2 - 2
X-70443748-G-C c.191G>C p.C64S Missense 2/2 - 2
X-70443748-G-A c.191G>A p.C64Y Missense 2/2 - 3
X-70443748-G-T c.191G>T p.C64F Missense 2/2 - 3
X-70443750-T-C c.193T>C p.Y65H Missense 2/2 - 4
X-70443751-A-G c.194A>G p.Y65C Missense 2/2 - 8
X-70443752-T-A c.195T>A p.Y65* Nonsense 2/2 - 1
X-70443752-T-G c.195T>G p.Y65* Nonsense 2/2 - 1
X-70443753-G-A c.196G>A p.D66N Missense 2/2 - 3
X-70443753-G-C c.196G>C p.D66H Missense 2/2 - 2
X-70443762-T-C c.205T>C p.F69L Missense 2/2 - 3
X-70443764-C-A c.207C>A p.F69L Missense 2/2 - 3
X-70443764-C-G c.207C>G p.F69L Missense 2/2 - 3
X-70443765-C-G c.208C>G p.P70A Missense 2/2 - 4
X-70443769-T-C c.212T>C p.I71T Missense 2/2 - 2
X-70443769-T-G c.212T>G p.I71S Missense 2/2 - 6
X-70443772-C-T c.215C>T p.S72F Missense 2/2 - 2
X-70443775-A-G c.218A>G p.H73R Missense 2/2 - 2
X-70443776-T-G c.219T>G p.H73Q Missense 2/2 - 1
X-70443778-T-C c.221T>C p.V74A Missense 2/2 - 1
X-70443780-C-A c.223C>A p.R75= Synonymous 2/2 - 1
X-70443780-CG-AA c.223_224delinsAA p.R75K Missense 2/2 - 2
X-70443780-CG-GA c.223_224delinsGA p.R75E Missense 2/2 - 1
X-70443780-CGG-AAC c.223_225delinsAAC p.R75N Missense 2/2 - 1
X-70443780-CG-GC c.223_224delinsGC p.R75A Missense 2/2 - 2
X-70443780-CGG-GAC c.223_225delinsGAC p.R75D Missense 2/2 - 3
X-70443780-CG-GT c.223_224delinsGT p.R75V Missense 2/2 - 2
X-70443780-CGG-TAT c.223_225delinsTAT p.R75Y Missense 2/2 - 2
X-70443780-CGG-TTT c.223_225delinsTTT p.R75F Missense 2/2 - 1
X-70443780-C-T c.223C>T p.R75W Missense 2/2 - 28
X-70443782-G-A c.225G>A p.R75= Synonymous 2/2 - 1
X-70443782-G-C c.225G>C p.R75= Synonymous 2/2 - 1
X-70443782-G-T c.225G>T p.R75= Synonymous 2/2 - 1
X-70443781-G-A c.224G>A p.R75Q Missense 2/2 - 10
X-70443781-G-C c.224G>C p.R75P Missense 2/2 - 9
X-70443781-GG-AT c.224_225delinsAT p.R75H Missense 2/2 - 1
X-70443781-G-T c.224G>T p.R75L Missense 2/2 - 3
X-70443780-CG-C c.225del p.L76Cfs*8 Frameshift 2/2 - 1
X-70443784-T-C c.227T>C p.L76P Missense 2/2 - 1
X-70443784-T-G c.227T>G p.L76R Missense 2/2 - 1
X-70443786-T-A c.229T>A p.W77R Missense 2/2 - 4
X-70443786-T-C c.229T>C p.W77R Missense 2/2 - 4
X-70443787-G-C c.230G>C p.W77S Missense 2/2 - 4
X-70443787-G-T c.230G>T p.W77L Missense 2/2 - 1
X-70443788-G-A c.231G>A p.W77* Nonsense 2/2 - 1
X-70443788-G-C c.231G>C p.W77C Missense 2/2 - 1
X-70443788-G-T c.231G>T p.W77C Missense 2/2 - 1
X-70443789-T-C c.232T>C p.S78P Missense 2/2 - 1
X-70443789-TC-CT c.232_233delinsCT p.S78L Missense 2/2 - 1
X-70443790-CC-AA c.233_234delinsAA p.S78* Nonsense 2/2 - 1
X-70443790-CC-GG c.233_234inv p.S78W Missense 2/2 - 2
X-70443790-C-T c.233C>T p.S78F Missense 2/2 - 1
X-70443793-T-C c.236T>C p.L79P Missense 2/2 - 1
X-70443792-C-T c.235C>T p.L79= Synonymous 2/2 - 1
X-70443795-C-A c.238C>A p.Q80K Missense 2/2 - 3
X-70443795-C-T c.238C>T p.Q80* Nonsense 2/2 - 1
X-70443796-A-G c.239A>G p.Q80R Missense 2/2 - 7
X-70443798-C-G c.241C>G p.L81V Missense 2/2 - 1
X-70443798-C-T c.241C>T p.L81F Missense 2/2 - 2
X-70443799-T-A c.242T>A p.L81H Missense 2/2 - 1
X-70443802-T-C c.245T>C p.I82T Missense 2/2 - 1
X-70443804-CTA-TTT c.247_249delinsTTT p.L83F Missense 2/2 - 1
X-70443805-T-C c.248T>C p.L83P Missense 2/2 - 3
X-70443807-G-A c.250G>A p.V84I Missense 2/2 - 2
X-70443807-G-C c.250G>C p.V84L Missense 2/2 - 4
X-70443808-T-A c.251T>A p.V84D Missense 2/2 - 1
X-70443811-C-G c.254C>G p.S85C Missense 2/2 - 14
X-70443811-C-T c.254C>T p.S85F Missense 2/2 - 2
X-70443813-ACC-TGG c.256_258delinsTGG p.T86W Missense 2/2 - 1
X-70443813-A-G c.256A>G p.T86A Missense 2/2 - 3
X-70443813-A-T c.256A>T p.T86S Missense 2/2 - 4
X-70443814-C-A c.257C>A p.T86N Missense 2/2 - 3
X-70443814-CC-GG c.257_258inv p.T86R Missense 2/2 - 1
X-70443814-C-G c.257C>G p.T86S Missense 2/2 - 4
X-70443816-CCA-TGT c.259_261delinsTGT p.P87C Missense 2/2 - 1
X-70443816-C-G c.259C>G p.P87A Missense 2/2 - 7
X-70443816-C-T c.259C>T p.P87S Missense 2/2 - 6
X-70443817-C-A c.260C>A p.P87Q Missense 2/2 - 1
X-70443817-C-G c.260C>G p.P87R Missense 2/2 - 1
X-70443817-C-T c.260C>T p.P87L Missense 2/2 - 6
X-70443819-G-A c.262G>A p.A88T Missense 2/2 - 1
X-70443819-G-T c.262G>T p.A88S Missense 2/2 - 3
X-70443820-C-A c.263C>A p.A88D Missense 2/2 - 2
X-70443820-C-T c.263C>T p.A88V Missense 2/2 - 6
X-70443822-C-G c.265C>G p.L89V Missense 2/2 - 4
X-70443822-CTC-TGG c.265_267delinsTGG p.L89W Missense 2/2 - 1
X-70443823-T-C c.266T>C p.L89P Missense 2/2 - 7
X-70443825-C-G c.268C>G p.L90V Missense 2/2 - 2
X-70443826-T-A c.269T>A p.L90H Missense 2/2 - 5
X-70443826-T-C c.269T>C p.L90P Missense 2/2 - 4
X-70443828-G-A c.271G>A p.V91M Missense 2/2 - 13
X-70443828-G-C c.271G>C p.V91L Missense 2/2 - 1
X-70443828-G-T c.271G>T p.V91L Missense 2/2 - 1
X-70443828-GT-TG c.271_272delinsTG p.V91W Missense 2/2 - 1
X-70443829-T-C c.272T>C p.V91A Missense 2/2 - 1
X-70443829-T-G c.272T>G p.V91G Missense 2/2 - 2
X-70443831-G-A c.274G>A p.A92T Missense 2/2 - 2
X-70443831-G-T c.274G>T p.A92S Missense 2/2 - 1
X-70443834-A-G c.277A>G p.M93V Missense 2/2 - 10
X-70443834-AT-GC c.277_278delinsGC p.M93A Missense 2/2 - 1
X-70443834-AT-TG c.277_278delinsTG p.M93W Missense 2/2 - 1
X-70443835-T-A c.278T>A p.M93K Missense 2/2 - 2
X-70443835-T-C c.278T>C p.M93T Missense 2/2 - 1
X-70443835-T-G c.278T>G p.M93R Missense 2/2 - 3
X-70443837-C-A c.280C>A p.H94N Missense 2/2 - 1
X-70443837-CA-TG c.280_281inv p.H94C Missense 2/2 - 1
X-70443837-C-G c.280C>G p.H94D Missense 2/2 - 2
X-70443837-C-T c.280C>T p.H94Y Missense 2/2 - 11
X-70443835-TGCACGTG-T c.281_287del p.H94Lfs*6 Frameshift 2/2 - 1
X-70443838-A-C c.281A>C p.H94P Missense 2/2 - 1
X-70443838-A-G c.281A>G p.H94R Missense 2/2 - 3
X-70443839-C-A c.282C>A p.H94Q Missense 2/2 - 10
X-70443839-C-G c.282C>G p.H94Q Missense 2/2 - 8
X-70443840-G-A c.283G>A p.V95M Missense 2/2 - 16
X-70443843-G-T c.286G>T p.A96S Missense 2/2 - 1
X-70443844-C-T c.287C>T p.A96V Missense 2/2 - 2
X-70443850-A-T c.293A>T p.Q98L Missense 2/2 - 1
X-70443855-C-T c.298C>T p.H100Y Missense 2/2 - 4
X-70443856-A-C c.299A>C p.H100P Missense 2/2 - 1
X-70443856-A-G c.299A>G p.H100R Missense 2/2 - 1
X-70443857-C-A c.300C>A p.H100Q Missense 2/2 - 1
X-70443857-C-G c.300C>G p.H100Q Missense 2/2 - 1
X-70443857-CAT-C c.302_303del p.I101Rfs*8 Frameshift 2/2 - 3
X-70443859-T-C c.302T>C p.I101T Missense 2/2 - 1
X-70443859-T-TA c.303dup p.E102Rfs*8 Frameshift 2/2 - 1
X-70443861-AGAG-A c.304_306del p.E102del InFrameDeletion 2/2 - 10
X-70443861-G-A c.304G>A p.E102K Missense 2/2 - 1
X-70443861-G-C c.304G>C p.E102Q Missense 2/2 - 1
X-70443861-G-T c.304G>T p.E102* Nonsense 2/2 - 1
X-70443861-G-GA c.305dup p.K103Efs*7 Frameshift 2/2 - 1
X-70443862-A-G c.305A>G p.E102G Missense 2/2 - 18
X-70443864-A-G c.307A>G p.K103E Missense 2/2 - 3
X-70443861-GAGA-G c.309_311del p.K104del InFrameDeletion 2/2 - 1
X-70443868-A-C c.311A>C p.K104T Missense 2/2 - 3
X-70443874-T-C c.317T>C p.L106P Missense 2/2 - 1
X-70443876-C-T c.319C>T p.R107W Missense 2/2 - 12
X-70443877-G-A c.320G>A p.R107Q Missense 2/2 - 2
X-70443880-T-C c.323T>C p.L108P Missense 2/2 - 3
X-70443879-C-CT c.324dup p.E109* Nonsense 2/2 - 1
X-70443882-G-T c.325G>T p.E109* Nonsense 2/2 - 1
X-70443884-G-A c.327G>A p.E109= Synonymous 2/2 - 1
X-70443886-G-C c.329G>C p.G110A Missense 2/2 - 3
X-70443888-C-A c.331C>A p.H111N Missense 2/2 - 3
X-70443897-C-T c.340C>T p.P114S Missense 2/2 - 1
X-70443895-A-AC c.343dup p.L115Pfs*32 Frameshift 2/2 - 1
X-70443910-A-G c.353A>G p.E118G Missense 2/2 - 1
X-70443915-G-A c.358G>A p.V120M Missense 2/2 - 4
X-70443916-T-A c.359T>A p.V120E Missense 2/2 - 3
X-70443918-A-C c.361A>C p.K121Q Missense 2/2 - 1
X-70443918-A-G c.361A>G p.K121E Missense 2/2 - 1
X-70443919-A-G c.362A>G p.K121R Missense 2/2 - 1
X-70443919-AG-TC c.362_363delinsTC p.K121I Missense 2/2 - 1
X-70443920-G-A c.363G>A p.K121= Synonymous 2/2 - 1
X-70443923-G-A c.366G>A p.R122= Synonymous 2/2 - 1
X-70443924-C-T c.367C>T p.H123Y Missense 2/2 - 1
X-70443929-G-C c.372G>C p.K124N Missense 2/2 - 4
X-70443929-G-T c.372G>T p.K124N Missense 2/2 - 3
X-70443931-T-A c.374T>A p.V125D Missense 2/2 - 4
X-70443933-C-T c.376C>T p.H126Y Missense 2/2 - 4
X-70443936-A-T c.379A>T p.I127F Missense 2/2 - 4
X-70443937-T-A c.380T>A p.I127N Missense 2/2 - 2
X-70443937-T-C c.380T>C p.I127T Missense 2/2 - 2
X-70443937-T-G c.380T>G p.I127S Missense 2/2 - 3
X-70443938-C-G c.381C>G p.I127M Missense 2/2 - 5
X-70443939-T-C c.382T>C p.S128P Missense 2/2 - 3
X-70443940-C-A c.383C>A p.S128* Nonsense 2/2 - 1
X-70443940-C-G c.383C>G p.S128* Nonsense 2/2 - 1
X-70443940-C-T c.383C>T p.S128L Missense 2/2 - 1
X-70443946-C-T c.389C>T p.T130I Missense 2/2 - 2
X-70443948-C-T c.391C>T p.L131= Synonymous 2/2 - 1
X-70443949-T-C c.392T>C p.L131P Missense 2/2 - 4
X-70443949-T-G c.392T>G p.L131R Missense 2/2 - 1
X-70443951-T-C c.394T>C p.W132R Missense 2/2 - 1
X-70443953-G-A c.396G>A p.W132* Nonsense 2/2 - 1
X-70443954-GT-G c.397del p.W133Gfs*63 Frameshift 2/2 - 2
X-70443954-T-A c.397T>A p.W133R Missense 2/2 - 4
X-70443954-T-C c.397T>C p.W133R Missense 2/2 - 5
X-70443955-G-A c.398G>A p.W133* Nonsense 2/2 - 5
X-70443956-G-A c.399G>A p.W133* Nonsense 2/2 - 4
X-70443956-G-C c.399G>C p.W133C Missense 2/2 - 3
X-70443956-G-T c.399G>T p.W133C Missense 2/2 - 3
X-70443957-AC-TG c.400_401delinsTG p.T134C Missense 2/2 - 1
X-70443958-C-A c.401C>A p.T134N Missense 2/2 - 1
X-70443959-C-G c.402C>G p.T134= Synonymous 2/2 - 1
X-70443959-C-CT c.403dup p.Y135Lfs*12 Frameshift 2/2 - 1
X-70443960-T-G c.403T>G p.Y135D Missense 2/2 - 1
X-70443961-A-G c.404A>G p.Y135C Missense 2/2 - 2
X-70443964-T-C c.407T>C p.V136A Missense 2/2 - 10
X-70443966-ATC-TGG c.409_411delinsTGG p.I137W Missense 2/2 - 1
X-70443967-T-C c.410T>C p.I137T Missense 2/2 - 1
X-70443969-A-G c.412A>G p.S138G Missense 2/2 - 3
X-70443969-AGC-TGG c.412_414delinsTGG p.S138W Missense 2/2 - 1
X-70443970-G-A c.413G>A p.S138N Missense 2/2 - 2
X-70443972-G-A c.415G>A p.V139M Missense 2/2 - 20
X-70443972-GT-TG c.415_416delinsTG p.V139W Missense 2/2 - 1
X-70443975-G-A c.418G>A p.V140M Missense 2/2 - 1
X-70443976-T-A c.419T>A p.V140E Missense 2/2 - 3
X-70443978-T-C c.421T>C p.F141L Missense 2/2 - 2
X-70443980-C-A c.423C>A p.F141L Missense 2/2 - 2
X-70443980-C-G c.423C>G p.F141L Missense 2/2 - 3
X-70443981-CG-GA c.424_425delinsGA p.R142E Missense 2/2 - 5
X-70443981-CGG-TAT c.424_426delinsTAT p.R142Y Missense 2/2 - 1
X-70443981-C-T c.424C>T p.R142W Missense 2/2 - 31
X-70443982-G-A c.425G>A p.R142Q Missense 2/2 - 15
X-70443984-CT-TG c.427_428delinsTG p.L143W Missense 2/2 - 1
X-70443985-T-C c.428T>C p.L143P Missense 2/2 - 7
X-70443988-T-G c.431T>G p.L144W Missense 2/2 - 1
X-70443984-CTGT-C c.432_434del p.L144del InFrameDeletion 2/2 - 3
X-70443991-T-G c.434T>G p.F145C Missense 2/2 - 1
X-70443991-TT-GG c.434_435delinsGG p.F145W Missense 2/2 - 1
X-70443989-GT-G c.435del p.F145Lfs*51 Frameshift 2/2 - 1
X-70443993-G-A c.436G>A p.E146K Missense 2/2 - 3
X-70443993-GA-AG c.436_437delinsAG p.E146R Missense 2/2 - 2
X-70443993-GAG-TGT c.436_438delinsTGT p.E146C Missense 2/2 - 1
X-70443993-GA-TG c.436_437delinsTG p.E146W Missense 2/2 - 1
X-70443994-A-C c.437A>C p.E146A Missense 2/2 - 1
X-70443994-AG-A c.439del p.A147Pfs*49 Frameshift 2/2 - 1
X-70443997-C-A c.440C>A p.A147D Missense 2/2 - 2
X-70443998-C-A c.441C>A p.A147= Synonymous 2/2 - 1
X-70443998-C-G c.441C>G p.A147= Synonymous 2/2 - 1
X-70443998-C-T c.441C>T p.A147= Synonymous 2/2 - 2
X-70443999-GTC-TGG c.442_444delinsTGG p.V148W Missense 2/2 - 1
X-70444002-T-A c.445T>A p.F149I Missense 2/2 - 3
X-70444002-T-C c.445T>C p.F149L Missense 2/2 - 2
X-70444002-T-G c.445T>G p.F149V Missense 2/2 - 2
X-70444004-C-A c.447C>A p.F149L Missense 2/2 - 1
X-70444004-C-G c.447C>G p.F149L Missense 2/2 - 1
X-70444003-TC-GG c.446_447delinsGG p.F149W Missense 2/2 - 1
X-70444005-A-G c.448A>G p.M150V Missense 2/2 - 1
X-70444005-AT-TG c.448_449delinsTG p.M150W Missense 2/2 - 1
X-70444006-T-C c.449T>C p.M150T Missense 2/2 - 1
X-70444006-T-G c.449T>G p.M150R Missense 2/2 - 1
X-70444007-G-A c.450G>A p.M150I Missense 2/2 - 1
X-70444008-TAT-AAG c.451_453delinsAAG p.Y151K Missense 2/2 - 1
X-70444009-A-C c.452A>C p.Y151S Missense 2/2 - 3
X-70444009-A-G c.452A>G p.Y151C Missense 2/2 - 3
X-70444009-AT-GG c.452_453delinsGG p.Y151W Missense 2/2 - 1
X-70444011-G-A c.454G>A p.V152I Missense 2/2 - 2
X-70444013-C-A c.456C>A p.V152= Synonymous 2/2 - 1
X-70444013-C-G c.456C>G p.V152= Synonymous 2/2 - 1
X-70444013-C-T c.456C>T p.V152= Synonymous 2/2 - 2
X-70444014-T-C c.457T>C p.F153L Missense 2/2 - 3
X-70444016-T-A c.459T>A p.F153L Missense 2/2 - 2
X-70444016-T-G c.459T>G p.F153L Missense 2/2 - 2
X-70444015-T-C c.458T>C p.F153S Missense 2/2 - 4
X-70444019-T-G c.462T>G p.Y154* Nonsense 2/2 - 1
X-70444023-C-T c.466C>T p.L156F Missense 2/2 - 2
X-70444023-CT-GC c.466_467delinsGC p.L156A Missense 2/2 - 1
X-70444024-T-A c.467T>A p.L156H Missense 2/2 - 1
X-70444024-T-G c.467T>G p.L156R Missense 2/2 - 9
X-70444026-T-C c.469T>C p.Y157H Missense 2/2 - 2
X-70444027-A-G c.470A>G p.Y157C Missense 2/2 - 2
X-70444029-C-G c.472C>G p.P158A Missense 2/2 - 5
X-70444029-C-T c.472C>T p.P158S Missense 2/2 - 2
X-70444030-C-G c.473C>G p.P158R Missense 2/2 - 2
X-70444030-C-T c.473C>T p.P158L Missense 2/2 - 1
X-70444032-G-A c.475G>A p.G159S Missense 2/2 - 2
X-70444033-G-A c.476G>A p.G159D Missense 2/2 - 4
X-70444034-C-A c.477C>A p.G159= Synonymous 2/2 - 1
X-70444035-T-A c.478T>A p.Y160N Missense 2/2 - 1
X-70444035-T-C c.478T>C p.Y160H Missense 2/2 - 3
X-70444035-T-G c.478T>G p.Y160D Missense 2/2 - 1
X-70444036-A-C c.479A>C p.Y160S Missense 2/2 - 1
X-70444036-A-G c.479A>G p.Y160C Missense 2/2 - 2
X-70444038-G-C c.481G>C p.A161P Missense 2/2 - 3
X-70444040-C-A c.483C>A p.A161= Synonymous 2/2 - 1
X-70444040-C-G c.483C>G p.A161= Synonymous 2/2 - 1
X-70444040-C-T c.483C>T p.A161= Synonymous 2/2 - 1
X-70444041-A-C c.484A>C p.M162L Missense 2/2 - 2
X-70444041-A-T c.484A>T p.M162L Missense 2/2 - 4
X-70444042-T-C c.485T>C p.M162T Missense 2/2 - 1
X-70444047-C-G c.490C>G p.R164G Missense 2/2 - 1
X-70444047-CG-AA c.490_491delinsAA p.R164K Missense 2/2 - 1
X-70444047-CGG-TAT c.490_492delinsTAT p.R164Y Missense 2/2 - 1
X-70444047-C-T c.490C>T p.R164W Missense 2/2 - 28
X-70444048-G-A c.491G>A p.R164Q Missense 2/2 - 26
X-70444048-G-T c.491G>T p.R164L Missense 2/2 - 1
X-70444050-C-T c.493C>T p.L165= Synonymous 2/2 - 1
X-70444051-T-C c.494T>C p.L165P Missense 2/2 - 2
X-70444054-T-G c.497T>G p.V166G Missense 2/2 - 2
X-70444057-A-T c.500A>T p.K167M Missense 2/2 - 1
X-70444059-T-A c.502T>A p.C168S Missense 2/2 - 2
X-70444059-T-C c.502T>C p.C168R Missense 2/2 - 2
X-70444059-T-G c.502T>G p.C168G Missense 2/2 - 2
X-70444060-G-C c.503G>C p.C168S Missense 2/2 - 2
X-70444060-G-A c.503G>A p.C168Y Missense 2/2 - 11
X-70444062-G-A c.505G>A p.D169N Missense 2/2 - 2
X-70444064-C-A c.507C>A p.D169E Missense 2/2 - 1
X-70444064-C-T c.507C>T p.D169= Synonymous 2/2 - 4
X-70444065-G-A c.508G>A p.V170I Missense 2/2 - 4
X-70444065-G-T c.508G>T p.V170F Missense 2/2 - 1
X-70444066-T-A c.509T>A p.V170D Missense 2/2 - 1
X-70444066-T-C c.509T>C p.V170A Missense 2/2 - 1
X-70444069-A-T c.512A>T p.Y171F Missense 2/2 - 1
X-70444071-C-G c.514C>G p.P172A Missense 2/2 - 2
X-70444071-C-T c.514C>T p.P172S Missense 2/2 - 6
X-70444072-C-G c.515C>G p.P172R Missense 2/2 - 4
X-70444072-C-T c.515C>T p.P172L Missense 2/2 - 6
X-70444074-T-A c.517T>A p.C173S Missense 2/2 - 1
X-70444074-T-C c.517T>C p.C173R Missense 2/2 - 4
X-70444075-G-C c.518G>C p.C173S Missense 2/2 - 1
X-70444075-G-A c.518G>A p.C173Y Missense 2/2 - 4
X-70444075-G-T c.518G>T p.C173F Missense 2/2 - 1
X-70444080-A-G c.523A>G p.N175D Missense 2/2 - 8
X-70444080-A-T c.523A>T p.N175Y Missense 2/2 - 1
X-70444079-C-CA c.524dup p.N175Kfs*68 Frameshift 2/2 - 1
X-70444081-A-G c.524A>G p.N175S Missense 2/2 - 1
X-70444086-G-A c.529G>A p.V177M Missense 2/2 - 1
X-70444085-AGTG-A c.530_532del p.V177del InFrameDeletion 2/2 - 1
X-70444087-T-A c.530T>A p.V177E Missense 2/2 - 2
X-70444087-T-C c.530T>C p.V177A Missense 2/2 - 9
X-70444089-G-A c.532G>A p.D178N Missense 2/2 - 2
X-70444089-G-C c.532G>C p.D178H Missense 2/2 - 1
X-70444089-G-T c.532G>T p.D178Y Missense 2/2 - 6
X-70444090-A-G c.533A>G p.D178G Missense 2/2 - 3
X-70444092-T-A c.535T>A p.C179S Missense 2/2 - 2
X-70444092-T-C c.535T>C p.C179R Missense 2/2 - 4
X-70444092-T-G c.535T>G p.C179G Missense 2/2 - 2
X-70444093-G-C c.536G>C p.C179S Missense 2/2 - 4
X-70444093-G-A c.536G>A p.C179Y Missense 2/2 - 7
X-70444094-C-A c.537C>A p.C179* Nonsense 2/2 - 1
X-70444095-T-C c.538T>C p.F180L Missense 2/2 - 3
X-70444097-C-A c.540C>A p.F180L Missense 2/2 - 2
X-70444097-C-G c.540C>G p.F180L Missense 2/2 - 2
X-70444096-T-C c.539T>C p.F180S Missense 2/2 - 2
X-70444097-C-T c.540C>T p.F180= Synonymous 2/2 - 1
X-70444098-G-A c.541G>A p.V181M Missense 2/2 - 11
X-70444099-T-C c.542T>C p.V181A Missense 2/2 - 9
X-70444101-T-A c.544T>A p.S182T Missense 2/2 - 5
X-70444102-C-G c.545C>G p.S182C Missense 2/2 - 1
X-70444104-C-A c.547C>A p.R183S Missense 2/2 - 4
X-70444104-C-G c.547C>G p.R183G Missense 2/2 - 1
X-70444104-CG-TT c.547_548delinsTT p.R183F Missense 2/2 - 1
X-70444104-C-T c.547C>T p.R183C Missense 2/2 - 16
X-70444105-G-A c.548G>A p.R183H Missense 2/2 - 26
X-70444105-GC-AA c.548_549delinsAA p.R183Q Missense 2/2 - 1
X-70444107-C-T c.550C>T p.P184S Missense 2/2 - 1
X-70444108-C-G c.551C>G p.P184R Missense 2/2 - 2
X-70444108-C-T c.551C>T p.P184L Missense 2/2 - 3
X-70444105-GC-G c.552del p.T185Pfs*11 Frameshift 2/2 - 1
X-70444110-A-G c.553A>G p.T185A Missense 2/2 - 1
X-70444111-C-T c.554C>T p.T185I Missense 2/2 - 1
X-70444112-C-A c.555C>A p.T185= Synonymous 2/2 - 1
X-70444113-G-A c.556G>A p.E186K Missense 2/2 - 16
X-70444113-G-T c.556G>T p.E186* Nonsense 2/2 - 3
X-70444116-A-G c.559A>G p.K187E Missense 2/2 - 2
X-70444117-A-C c.560A>C p.K187T Missense 2/2 - 1
X-70444119-A-C c.562A>C p.T188P Missense 2/2 - 1
X-70444119-A-G c.562A>G p.T188A Missense 2/2 - 1
X-70444120-C-T c.563C>T p.T188I Missense 2/2 - 3
X-70444121-C-A c.564C>A p.T188= Synonymous 2/2 - 1
X-70444121-C-G c.564C>G p.T188= Synonymous 2/2 - 1
X-70444121-C-T c.564C>T p.T188= Synonymous 2/2 - 3
X-70444122-G-A c.565G>A p.V189I Missense 2/2 - 4
X-70444123-T-G c.566T>G p.V189G Missense 2/2 - 2
X-70444128-AC-TT c.571_572delinsTT p.T191F Missense 2/2 - 1
X-70444128-A-G c.571A>G p.T191A Missense 2/2 - 3
X-70444118-AACCGTCTTC-A c.572_580del p.T191_F193del InFrameDeletion 2/2 - 1
X-70444128-A-T c.571A>T p.T191S Missense 2/2 - 1
X-70444129-C-G c.572C>G p.T191S Missense 2/2 - 1
X-70444131-G-T c.574G>T p.V192F Missense 2/2 - 3
X-70444132-T-C c.575T>C p.V192A Missense 2/2 - 1
X-70444133-TC-T c.576del p.F193Sfs*3 Frameshift 2/2 - 1
X-70444134-T-C c.577T>C p.F193L Missense 2/2 - 2
X-70444136-C-A c.579C>A p.F193L Missense 2/2 - 2
X-70444136-C-G c.579C>G p.F193L Missense 2/2 - 2
X-70444135-T-C c.578T>C p.F193S Missense 2/2 - 1
X-70444135-T-G c.578T>G p.F193C Missense 2/2 - 2
X-70444137-A-G c.580A>G p.M194V Missense 2/2 - 5
X-70444138-T-C c.581T>C p.M194T Missense 2/2 - 1
X-70444141-CT-C c.584del p.L195Qfs*58 Frameshift 2/2 - 1
X-70444144-C-A c.587C>A p.A196D Missense 2/2 - 1
X-70444146-G-T c.589G>T p.A197S Missense 2/2 - 1
X-70444147-C-T c.590C>T p.A197V Missense 2/2 - 4
X-70444149-T-C c.592T>C p.S198P Missense 2/2 - 1
X-70444149-T-G c.592T>G p.S198A Missense 2/2 - 2
X-70444150-C-T c.593C>T p.S198F Missense 2/2 - 2
X-70444152-G-C c.595G>C p.G199R Missense 2/2 - 4
X-70444158-T-A c.601T>A p.C201S Missense 2/2 - 1
X-70444158-T-C c.601T>C p.C201R Missense 2/2 - 4
X-70444159-G-C c.602G>C p.C201S Missense 2/2 - 1
X-70444159-G-A c.602G>A p.C201Y Missense 2/2 - 4
X-70444161-AT-GA c.604_605delinsGA p.I202D Missense 2/2 - 2
X-70444162-T-A c.605T>A p.I202N Missense 2/2 - 2
X-70444159-GCAT-G c.607_609del p.I203del InFrameDeletion 2/2 - 1
X-70444165-T-A c.608T>A p.I203N Missense 2/2 - 2
X-70444165-T-C c.608T>C p.I203T Missense 2/2 - 2
X-70444166-C-G c.609C>G p.I203M Missense 2/2 - 1
X-70444167-C-G c.610C>G p.L204V Missense 2/2 - 3
X-70444167-C-T c.610C>T p.L204F Missense 2/2 - 4
X-70444170-AA-TG c.613_614delinsTG p.N205C Missense 2/2 - 1
X-70444170-A-T c.613A>T p.N205Y Missense 2/2 - 1
X-70444171-A-G c.614A>G p.N205S Missense 2/2 - 16
X-70444171-A-T c.614A>T p.N205I Missense 2/2 - 6
X-70444179-G-A c.622G>A p.E208K Missense 2/2 - 20
X-70444179-GA-CT c.622_623delinsCT p.E208L Missense 2/2 - 2
X-70444180-A-G c.623A>G p.E208G Missense 2/2 - 3
X-70444182-G-T c.625G>T p.V209L Missense 2/2 - 1
X-70444183-T-G c.626T>G p.V209G Missense 2/2 - 1
X-70444185-GTG-ATC c.628_630delinsATC p.V210I Missense 2/2 - 2
X-70444186-GTGTA-G c.629_632del p.V210Afs*42 Frameshift 2/2 - 1
X-70444186-T-C c.629T>C p.V210A Missense 2/2 - 1
X-70444188-T-C c.631T>C p.Y211H Missense 2/2 - 3
X-70444189-A-G c.632A>G p.Y211C Missense 2/2 - 2
X-70444190-C-A c.633C>A p.Y211* Nonsense 2/2 - 4
X-70444190-C-G c.633C>G p.Y211* Nonsense 2/2 - 3
X-70444191-C-T c.634C>T p.L212F Missense 2/2 - 1
X-70444192-T-A c.635T>A p.L212H Missense 2/2 - 1
X-70444192-T-G c.635T>G p.L212R Missense 2/2 - 1
X-70444194-A-G c.637A>G p.I213V Missense 2/2 - 4
X-70444191-CTCA-C c.640_642del p.I214del InFrameDeletion 2/2 - 1
X-70444197-ATC-TAA c.640_642delinsTAA p.I214* Nonsense 2/2 - 1
X-70444197-A-AT c.641dup p.R215Pfs*28 Frameshift 2/2 - 1
X-70444199-C-G c.642C>G p.I214M Missense 2/2 - 1
X-70444200-CG-TA c.643_644delinsTA p.R215* Nonsense 2/2 - 1
X-70444200-C-T c.643C>T p.R215W Missense 2/2 - 12
X-70444201-G-A c.644G>A p.R215Q Missense 2/2 - 4
X-70444201-G-C c.644G>C p.R215P Missense 2/2 - 5
X-70444206-T-A c.649T>A p.C217S Missense 2/2 - 1
X-70444206-TG-AC c.649_650delinsAC p.C217T Missense 2/2 - 1
X-70444207-G-C c.650G>C p.C217S Missense 2/2 - 1
X-70444208-T-A c.651T>A p.C217* Nonsense 2/2 - 4
X-70444212-CG-TT c.655_656delinsTT p.R219F Missense 2/2 - 1
X-70444212-C-T c.655C>T p.R219C Missense 2/2 - 5
X-70444213-G-A c.656G>A p.R219H Missense 2/2 - 5
X-70444214-C-T c.657C>T p.R219= Synonymous 2/2 - 1
X-70444213-G-GC c.658dup p.R220Pfs*23 Frameshift 2/2 - 1
X-70444215-C-G c.658C>G p.R220G Missense 2/2 - 4
X-70444215-CG-AC c.658_659delinsAC p.R220T Missense 2/2 - 1
X-70444215-C-T c.658C>T p.R220* Nonsense 2/2 - 13
X-70444216-G-A c.659G>A p.R220Q Missense 2/2 - 1
X-70444216-G-C c.659G>C p.R220P Missense 2/2 - 1
X-70444218-G-A c.661G>A p.A221T Missense 2/2 - 2
X-70444220-C-A c.663C>A p.A221= Synonymous 2/2 - 1
X-70444224-C-G c.667C>G p.R223G Missense 2/2 - 1
X-70444224-CGC-TGA c.667_669delinsTGA p.R223* Nonsense 2/2 - 1
X-70444224-C-T c.667C>T p.R223C Missense 2/2 - 2
X-70444225-G-A c.668G>A p.R223H Missense 2/2 - 2
X-70444227-C-A c.670C>A p.R224S Missense 2/2 - 1
X-70444227-C-T c.670C>T p.R224C Missense 2/2 - 1
X-70444228-G-A c.671G>A p.R224H Missense 2/2 - 5
X-70444228-G-T c.671G>T p.R224L Missense 2/2 - 1
X-70444233-AAT-TAA c.676_678delinsTAA p.N226* Nonsense 2/2 - 1
X-70444234-A-G c.677A>G p.N226S Missense 2/2 - 1
X-70444234-A-AT c.678dup p.P227Sfs*16 Frameshift 2/2 - 1
X-70444238-A-T c.681A>T p.P227= Synonymous 2/2 - 1
X-70444243-C-T c.686C>T p.S229F Missense 2/2 - 1
X-70444245-C-G c.688C>G p.R230G Missense 2/2 - 1
X-70444245-C-T c.688C>T p.R230C Missense 2/2 - 11
X-70444246-G-A c.689G>A p.R230H Missense 2/2 - 1
X-70444246-G-T c.689G>T p.R230L Missense 2/2 - 5
X-70444251-G-A c.694G>A p.G232S Missense 2/2 - 1
X-70444253-C-T c.696C>T p.G232= Synonymous 2/2 - 2
X-70444254-T-G c.697T>G p.S233A Missense 2/2 - 1
X-70444255-C-T c.698C>T p.S233L Missense 2/2 - 3
X-70444256-G-A c.699G>A p.S233= Synonymous 2/2 - 2
X-70444256-G-C c.699G>C p.S233= Synonymous 2/2 - 1
X-70444256-G-T c.699G>T p.S233= Synonymous 2/2 - 1
X-70444260-T-A c.703T>A p.F235I Missense 2/2 - 1
X-70444261-T-G c.704T>G p.F235C Missense 2/2 - 19
X-70444262-C-A c.705C>A p.F235L Missense 2/2 - 1
X-70444262-C-T c.705C>T p.F235= Synonymous 2/2 - 3
X-70444263-G-A c.706G>A p.G236S Missense 2/2 - 3
X-70444264-G-A c.707G>A p.G236D Missense 2/2 - 1
X-70444265-C-A c.708C>A p.G236= Synonymous 2/2 - 1
X-70444265-C-G c.708C>G p.G236= Synonymous 2/2 - 1
X-70444265-C-T c.708C>T p.G236= Synonymous 2/2 - 1
X-70444269-C-T c.712C>T p.R238C Missense 2/2 - 4
X-70444270-G-A c.713G>A p.R238H Missense 2/2 - 8
X-70444270-G-T c.713G>T p.R238L Missense 2/2 - 1
X-70444272-C-A c.715C>A p.L239I Missense 2/2 - 7
X-70444275-T-G c.718T>G p.S240A Missense 2/2 - 1
X-70444281-G-A c.724G>A p.E242K Missense 2/2 - 1
X-70444289-G-A c.732G>A p.K244= Synonymous 2/2 - 1
X-70444290-C-T c.733C>T p.Q245* Nonsense 2/2 - 1
X-70444291-A-G c.734A>G p.Q245R Missense 2/2 - 1
X-70444292-G-A c.735G>A p.Q245= Synonymous 2/2 - 2
X-70444308-C-G c.751C>G p.L251V Missense 2/2 - 1
X-70444308-CT-GC c.751_752delinsGC p.L251A Missense 2/2 - 1
X-70444310-G-T c.753G>T p.L251= Synonymous 2/2 - 1
X-70444311-C-A c.754C>A p.L252M Missense 2/2 - 1
X-70444311-CT-GC c.754_755delinsGC p.L252A Missense 2/2 - 1
X-70444315-G-A c.758G>A p.S253N Missense 2/2 - 1
X-70444317-G-GA c.761dup p.Q255Afs*21 Frameshift 2/2 - 1
X-70444320-C-T c.763C>T p.Q255* Nonsense 2/2 - 1
X-70444323-G-A c.766G>A p.D256N Missense 2/2 - 2
X-70444323-G-T c.766G>T p.D256Y Missense 2/2 - 1
X-70444325-T-C c.768T>C p.D256= Synonymous 2/2 - 1
X-70444327-G-A c.770G>A p.G257D Missense 2/2 - 2
X-70444328-C-A c.771C>A p.G257= Synonymous 2/2 - 2
X-70444328-C-G c.771C>G p.G257= Synonymous 2/2 - 2
X-70444328-C-T c.771C>T p.G257= Synonymous 2/2 - 2
X-70444329-CT-C c.772del p.S258Pfs*2 Frameshift 2/2 - 1
X-70444331-C-T c.774C>T p.S258= Synonymous 2/2 - 1
X-70444329-TC-T c.775del p.L259* Frameshift 2/2 - 1
X-70444332-C-T c.775C>T p.L259= Synonymous 2/2 - 1
X-70444335-A-G c.778A>G p.K260E Missense 2/2 - 2
X-70444337-A-G c.780A>G p.K260= Synonymous 2/2 - 1
X-70444338-G-A c.781G>A p.D261N Missense 2/2 - 1
X-70444338-GAC-G c.783_784del p.I262Tfs*13 Frameshift 2/2 - 2
X-70444341-A-GAGGCAG c.784delinsGAGGCAG p.I262delinsEAV MultiAAMissense 2/2 - 1
X-70444340-CAT-C c.785_786del p.I262Tfs*13 Frameshift 2/2 - 2
X-70444344-CT-GC c.787_788delinsGC p.L263A Missense 2/2 - 1
X-70444347-CG-GC c.790_791delinsGC p.R264A Missense 2/2 - 1
X-70444347-C-T c.790C>T p.R264C Missense 2/2 - 9
X-70444348-G-T c.791G>T p.R264L Missense 2/2 - 1
X-70444349-C-G c.792C>G p.R264= Synonymous 2/2 - 1
X-70444347-CGCCGCAGCCCTGGCACCGGGGCTGGGCTG-C c.793_821del p.R265* Frameshift 2/2 - 1
X-70444350-CGC-TGA c.793_795delinsTGA p.R265* Nonsense 2/2 - 1
X-70444350-C-T c.793C>T p.R265C Missense 2/2 - 4
X-70444351-G-A c.794G>A p.R265H Missense 2/2 - 1
X-70444351-G-T c.794G>T p.R265L Missense 2/2 - 1
X-70444355-C-T c.798C>T p.S266= Synonymous 2/2 - 1
X-70444356-CC-TT c.799_800delinsTT p.P267F Missense 2/2 - 1
X-70444354-GC-G c.800del p.P267Lfs*125 Frameshift 2/2 - 1
X-70444362-A-G c.805A>G p.T269A Missense 2/2 - 1
X-70444363-C-A c.806C>A p.T269N Missense 2/2 - 1
X-70444364-C-A c.807C>A p.T269= Synonymous 2/2 - 1
X-70444364-CCG-C c.807_808del p.A271Wfs*4 Frameshift 2/2 - 2
X-70444364-C-G c.807C>G p.T269= Synonymous 2/2 - 1
X-70444364-C-T c.807C>T p.T269= Synonymous 2/2 - 3
X-70444365-G-A c.808G>A p.G270R Missense 2/2 - 3
X-70444365-G-C c.808G>C p.G270R Missense 2/2 - 2
X-70444368-G-A c.811G>A p.A271T Missense 2/2 - 1
X-70444374-CTG-ATC c.817_819delinsATC p.L273I Missense 2/2 - 1
X-70444379-CT-C c.822del p.E275Kfs*117 Frameshift 2/2 - 2
X-70444385-G-A c.828G>A p.K276= Synonymous 2/2 - 1
X-70444387-G-A c.830G>A p.S277N Missense 2/2 - 3
X-70444386-A-C c.829A>C p.S277R Missense 2/2 - 1
X-70444388-C-A c.831C>A p.S277R Missense 2/2 - 2
X-70444388-C-G c.831C>G p.S277R Missense 2/2 - 1
X-70444388-C-T c.831C>T p.S277= Synonymous 2/2 - 3
X-70444386-AGCGACCGCT-A c.832_840del p.D278_C280del InFrameDeletion 2/2 - 1
X-70444390-A-T c.833A>T p.D278V Missense 2/2 - 2
X-70444391-C-T c.834C>T p.D278= Synonymous 2/2 - 1
X-70444393-G-A c.836G>A p.R279H Missense 2/2 - 1
X-70444393-G-C c.836G>C p.R279P Missense 2/2 - 1
X-70444395-T-C c.838T>C p.C280R Missense 2/2 - 1
X-70444395-T-G c.838T>G p.C280G Missense 2/2 - 11
X-70444398-T-C c.841T>C p.S281P Missense 2/2 - 1
X-70444398-T-TC c.842dup p.A282Gfs*129 Frameshift 2/2 - 1
X-70444399-C-A c.842C>A p.S281* Nonsense 2/2 - 8
X-70444399-C-G c.842C>G p.S281W Missense 2/2 - 1
X-70444399-C-T c.842C>T p.S281L Missense 2/2 - 1
X-70444398-TCGGC-T c.843_846del p.C283Dfs*108 Frameshift 2/2 - 1
X-70444400-G-A c.843G>A p.S281= Synonymous 2/2 - 1
X-70444399-C-CG c.844dup p.A282Gfs*129 Frameshift 2/2 - 1
X-70444406-C-A c.849C>A p.C283* Nonsense 2/2 - 1
X-70444443-C-A c.*34C>A - 3-UTRSNV 2/2 - 1
X-70444526-C-T c.*117C>T - 3-UTRSNV 2/2 - 1