ANKRD12

ANKRD12 ankyrin repeat domain 12

Annotation transcript: NM_015208.5

1924 unique variant annotations were identified in 494 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
18-9137618-T-G c.-52+655T>G - intron_variant - 1/12 1
18-9137806-A-G c.-52+843A>G - intron_variant - 1/12 1
18-9137856-A-G c.-52+893A>G - intron_variant - 1/12 1
18-9144667-C-T c.-52+7704C>T - intron_variant - 1/12 1
18-9149437-A-T c.-52+12474A>T - intron_variant - 1/12 1
18-9149800-T-A c.-52+12837T>A - intron_variant - 1/12 1
18-9157581-G-A c.-52+20618G>A - intron_variant - 1/12 1
18-9161764-A-T c.-51-20616A>T - IntronicSNV - 1/12 1
18-9174885-G-A c.-51-7495G>A - IntronicSNV - 1/12 1
18-9174885-G-C c.-51-7495G>C - IntronicSNV - 1/12 1
18-9176047-A-G c.-51-6333A>G - IntronicSNV - 1/12 1
18-9177894-T-C c.-51-4486T>C - IntronicSNV - 1/12 1
18-9182329-T-TA c.-51-49dup - IntronicInsertion - 1/12 1
18-9182331-A-AACTT c.-51-49_-51-48insACTT - IntronicInsertion - 1/12 2
18-9182331-A-AACTTCAGGTAGGT c.-51-49_-51-48insACTTCAGGTAGGT - IntronicInsertion - 1/12 2
18-9182331-A-AACTTCAGGTAGGTT c.-51-49_-51-48insACTTCAGGTAGGTT - IntronicInsertion - 1/12 2
18-9182332-C-A c.-51-48C>A - IntronicSNV - 1/12 2
18-9182332-C-CAGGTAGGTT c.-51-48_-51-47insAGGTAGGTT - IntronicInsertion - 1/12 1
18-9182332-C-CTTCAGGTAGGTT c.-51-48_-51-47insTTCAGGTAGGTT - IntronicInsertion - 1/12 1
18-9182332-C-CTTCAGGTAGTTT c.-51-48_-51-47insTTCAGGTAGTTT - IntronicInsertion - 1/12 1
18-9182332-C-T c.-51-48C>T - IntronicSNV - 1/12 2
18-9182379-G-C c.-51-1G>C - IntronicSNV - 1/12 1
18-9182427-T-TA c.1dup p.M1? CdsStartInsertion 2/13 - 1
18-9182441-C-G c.11C>G p.S4C Missense 2/13 - 1
18-9182454-AC-A c.26del p.P9Qfs*14 Frameshift 2/13 - 1
18-9182460-T-G c.30T>G p.I10M Missense 2/13 - 1
18-9182464-A-G c.34A>G p.S12G Missense 2/13 - 1
18-9182464-AG-CC c.34_35delinsCC p.S12P Missense 2/13 - 1
18-9182465-G-T c.35G>T p.S12I Missense 2/13 - 1
18-9182471-A-G c.41A>G p.N14S Missense 2/13 - 1
18-9182473-TC-CG c.43_44delinsCG p.S15R Missense 2/13 - 1
18-9182474-C-A c.44C>A p.S15Y Missense 2/13 - 1
18-9182474-C-T c.44C>T p.S15F Missense 2/13 - 1
18-9182475-T-A c.45T>A p.S15= Synonymous 2/13 - 1
18-9182475-T-C c.45T>C p.S15= Synonymous 2/13 - 1
18-9182475-T-G c.45T>G p.S15= Synonymous 2/13 - 1
18-9182480-G-A c.50G>A p.S17N Missense 2/13 - 1
18-9182482-G-T c.52G>T p.D18Y Missense 2/13 - 1
18-9182483-A-C c.53A>C p.D18A Missense 2/13 - 1
18-9182485-AG-CT c.55_56inv p.S19L Missense 2/13 - 1
18-9182486-G-A c.56G>A p.S19N Missense 2/13 - 1
18-9182489-A-G c.59A>G p.N20S Missense 2/13 - 2
18-9182491-A-G c.61A>G p.M21V Missense 2/13 - 1
18-9182497-G-A c.67G>A p.E23K Missense 2/13 - 1
18-9182498-A-T c.68A>T p.E23V Missense 2/13 - 1
18-9182501-A-G c.71A>G p.K24R Missense 2/13 - 1
18-9182503-C-T c.73C>T p.P25S Missense 2/13 - 1
18-9182507-A-G c.77A>G p.Y26C Missense 2/13 - 1
18-9182508-T-A c.78T>A p.Y26* Nonsense 2/13 - 1
18-9182508-T-G c.78T>G p.Y26* Nonsense 2/13 - 1
18-9182509-GGA-AGC c.79_81delinsAGC p.G27S Missense 2/13 - 1
18-9182510-G-A c.80G>A p.G27E Missense 2/13 - 2
18-9182516-A-C c.86A>C p.K29T Missense 2/13 - 1
18-9187054-T-C c.87+4537T>C - IntronicSNV - 2/12 1
18-9187416-AT-A c.87+4908del - IntronicDeletion - 2/12 1
18-9195548-G-GA c.88dup p.S30Kfs*2 SpliceAcceptorInsertion 3/13 - 1
18-9195550-G-T c.89G>T p.S30I Missense 3/13 - 1
18-9195551-GT-G c.90del p.S30Rfs*19 Frameshift 3/13 - 1
18-9195555-G-T c.94G>T p.D32Y Missense 3/13 - 5
18-9195558-A-G c.97A>G p.K33E Missense 3/13 - 1
18-9195564-G-A c.103G>A p.A35T Missense 3/13 - 1
18-9195565-C-A c.104C>A p.A35E Missense 3/13 - 1
18-9195568-C-T c.107C>T p.S36F Missense 3/13 - 1
18-9195571-A-G c.110A>G p.Y37C Missense 3/13 - 1
18-9195571-A-T c.110A>T p.Y37F Missense 3/13 - 2
18-9195572-C-A c.111C>A p.Y37* Nonsense 3/13 - 1
18-9195575-C-T c.114C>T p.S38= Synonymous 3/13 - 1
18-9195579-A-C c.118A>C p.T40P Missense 3/13 - 2
18-9195585-A-C c.124A>C p.K42Q Missense 3/13 - 1
18-9195586-A-C c.125A>C p.K42T Missense 3/13 - 1
18-9195588-A-G c.127A>G p.I43V Missense 3/13 - 4
18-9195594-C-T c.133C>T p.R45* Nonsense 3/13 - 3
18-9195595-G-A c.134G>A p.R45Q Missense 3/13 - 3
18-9195598-G-C c.137G>C p.S46T Missense 3/13 - 3
18-9195598-G-T c.137G>T p.S46I Missense 3/13 - 1
18-9195607-G-T c.146G>T p.S49I Missense 3/13 - 3
18-9195609-A-G c.148A>G p.K50E Missense 3/13 - 1
18-9195609-AAGG-A c.151_153del p.E51del InFrameDeletion 3/13 - 1
18-9195612-G-A c.151G>A p.E51K Missense 3/13 - 2
18-9195612-G-C c.151G>C p.E51Q Missense 3/13 - 1
18-9195612-G-T c.151G>T p.E51* Nonsense 3/13 - 1
18-9195613-A-T c.152A>T p.E51V Missense 3/13 - 1
18-9195616-T-C c.155T>C p.M52T Missense 3/13 - 1
18-9195618-A-G c.157A>G p.K53E Missense 3/13 - 1
18-9195622-A-G c.161A>G p.E54G Missense 3/13 - 1
18-9195623-G-C c.162G>C p.E54D Missense 3/13 - 3
18-9195623-G-T c.162G>T p.E54D Missense 3/13 - 4
18-9195627-T-C c.166T>C p.S56P Missense 3/13 - 1
18-9195627-TCA-AAC c.166_168delinsAAC p.S56N Missense 3/13 - 1
18-9195635-G-C c.174G>C p.M58I Missense 3/13 - 1
18-9195639-C-T c.178C>T p.R60C Missense 3/13 - 2
18-9195640-G-A c.179G>A p.R60H Missense 3/13 - 2
18-9195641-TA-T c.183del p.K61Nfs*83 Frameshift 3/13 - 1
18-9195648-C-A c.187C>A p.P63T Missense 3/13 - 1
18-9195648-CC-TT c.187_188delinsTT p.P63F Missense 3/13 - 2
18-9195648-C-T c.187C>T p.P63S Missense 3/13 - 2
18-9195653-T-C c.192T>C p.F64= Synonymous 3/13 - 1
18-9195662-C-T c.201C>T p.S67= Synonymous 3/13 - 1
18-9195663-C-T c.202C>T p.P68S Missense 3/13 - 3
18-9195666-TC-GG c.205_206delinsGG p.S69G Missense 3/13 - 1
18-9195667-C-T c.206C>T p.S69L Missense 3/13 - 1
18-9195672-A-G c.211A>G p.N71D Missense 3/13 - 1
18-9195681-C-T c.220C>T p.R74* Nonsense 3/13 - 1
18-9195682-G-A c.221G>A p.R74Q Missense 3/13 - 1
18-9195688-C-T c.227C>T p.S76L Missense 3/13 - 4
18-9195691-A-G c.230A>G p.D77G Missense 3/13 - 6
18-9195696-G-A c.235G>A p.D79N Missense 3/13 - 1
18-9195696-G-C c.235G>C p.D79H Missense 3/13 - 1
18-9195698-T-A c.235+2T>A - IntronicSNV - 3/12 1
18-9195776-T-G c.235+80T>G - IntronicSNV - 3/12 1
18-9204228-A-G c.236-246A>G - IntronicSNV - 3/12 1
18-9204482-C-T c.244C>T p.P82S Missense 4/13 - 3
18-9204483-C-G c.245C>G p.P82R Missense 4/13 - 1
18-9204492-C-G c.254C>G p.T85R Missense 4/13 - 1
18-9204495-G-T c.257G>T p.S86I Missense 4/13 - 2
18-9204496-GT-G c.258del p.S86Rfs*58 Frameshift 4/13 - 1
18-9204502-T-G c.264T>G p.N88K Missense 4/13 - 1
18-9204501-A-AT c.265dup p.W89Lfs*30 Frameshift 4/13 - 1
18-9204505-G-A c.267G>A p.W89* Nonsense 4/13 - 1
18-9204505-G-T c.267G>T p.W89C Missense 4/13 - 1
18-9204508-G-A c.270G>A p.G90= Synonymous 4/13 - 2
18-9204515-C-G c.277C>G p.L93V Missense 4/13 - 1
18-9204517-T-TA c.280dup p.I94Nfs*25 Frameshift 4/13 - 2
18-9204522-C-G c.284C>G p.S95C Missense 4/13 - 3
18-9204526-T-G c.288T>G p.S96= Synonymous 4/13 - 1
18-9204527-T-C c.289T>C p.Y97H Missense 4/13 - 1
18-9204529-C-A c.291C>A p.Y97* Nonsense 4/13 - 1
18-9204534-C-T c.296C>T p.T99I Missense 4/13 - 1
18-9204535-A-G c.297A>G p.T99= Synonymous 4/13 - 1
18-9204537-A-C c.299A>C p.Y100S Missense 4/13 - 1
18-9204540-C-A c.302C>A p.S101* Nonsense 4/13 - 1
18-9204540-CA-GT c.302_303delinsGT p.S101C Missense 4/13 - 1
18-9204540-C-G c.302C>G p.S101* Nonsense 4/13 - 1
18-9204541-CA-C c.303del p.E102Rfs*42 Frameshift 4/13 - 1
18-9204542-G-C c.304G>C p.E102Q Missense 4/13 - 1
18-9204543-G-A c.304+1G>A - IntronicSNV - 4/12 1
18-9204556-C-G c.304+14C>G - IntronicSNV - 4/12 1
18-9208664-G-A c.314G>A p.G105D Missense 5/13 - 1
18-9208665-T-C c.315T>C p.G105= Synonymous 5/13 - 1
18-9208666-C-A c.316C>A p.P106T Missense 5/13 - 1
18-9208665-TC-T c.317del p.P106Qfs*38 Frameshift 5/13 - 1
18-9208667-C-T c.317C>T p.P106L Missense 5/13 - 1
18-9208669-G-A c.319G>A p.E107K Missense 5/13 - 1
18-9208682-CAAAA-C c.335_338del p.K112Rfs*31 Frameshift 5/13 - 1
18-9208685-A-G c.335A>G p.K112R Missense 5/13 - 1
18-9208689-G-C c.339G>C p.K113N Missense 5/13 - 1
18-9208692-A-C c.342A>C p.E114D Missense 5/13 - 1
18-9208692-A-T c.342A>T p.E114D Missense 5/13 - 2
18-9208695-T-A c.345T>A p.A115= Synonymous 5/13 - 1
18-9208695-T-C c.345T>C p.A115= Synonymous 5/13 - 1
18-9208695-T-G c.345T>G p.A115= Synonymous 5/13 - 1
18-9208700-A-C c.350A>C p.N117T Missense 5/13 - 1
18-9208705-A-G c.355A>G p.K119E Missense 5/13 - 1
18-9208706-A-G c.356A>G p.K119R Missense 5/13 - 1
18-9208708-TC-AA c.358_359delinsAA p.S120N Missense 5/13 - 1
18-9208708-TC-CT c.358_359delinsCT p.S120L Missense 5/13 - 1
18-9208709-C-T c.359C>T p.S120F Missense 5/13 - 2
18-9208710-C-T c.360C>T p.S120= Synonymous 5/13 - 4
18-9208711-A-G c.361A>G p.T121A Missense 5/13 - 1
18-9208717-G-A c.367G>A p.V123I Missense 5/13 - 1
18-9208723-A-AT c.375dup p.L126Sfs*8 Frameshift 5/13 - 1
18-9208726-C-T c.376C>T p.L126F Missense 5/13 - 1
18-9208736-A-G c.386A>G p.Y129C Missense 5/13 - 2
18-9208737-T-C c.387T>C p.Y129= Synonymous 5/13 - 1
18-9208738-C-T c.388C>T p.P130S Missense 5/13 - 2
18-9208744-T-TAA c.394_395insAA p.S132* Nonsense 5/13 - 1
18-9208740-ACT-A c.395_396del p.S132* Frameshift 5/13 - 1
18-9208745-C-CT c.396dup p.E133* Nonsense 5/13 - 1
18-9208751-G-A c.401G>A p.R134Q Missense 5/13 - 1
18-9208757-A-T c.407A>T p.Q136L Missense 5/13 - 1
18-9208758-G-C c.408G>C p.Q136H Missense 5/13 - 2
18-9208758-G-T c.408G>T p.Q136H Missense 5/13 - 1
18-9208760-T-C c.410T>C p.M137T Missense 5/13 - 1
18-9208761-G-A c.411G>A p.M137I Missense 5/13 - 1
18-9208762-G-A c.412G>A p.A138T Missense 5/13 - 5
18-9208763-C-A c.413C>A p.A138E Missense 5/13 - 1
18-9208763-C-T c.413C>T p.A138V Missense 5/13 - 1
18-9208765-C-T c.415C>T p.L139F Missense 5/13 - 2
18-9208770-T-A c.420T>A p.L140= Synonymous 5/13 - 1
18-9208770-T-C c.420T>C p.L140= Synonymous 5/13 - 1
18-9208770-T-G c.420T>G p.L140= Synonymous 5/13 - 1
18-9208782-A-C c.432A>C p.T144= Synonymous 5/13 - 1
18-9208782-A-G c.432A>G p.T144= Synonymous 5/13 - 1
18-9208782-A-T c.432A>T p.T144= Synonymous 5/13 - 1
18-9208783-G-A c.433G>A p.A145T Missense 5/13 - 1
18-9208786-AGA-CAT c.436_438delinsCAT p.R146H Missense 5/13 - 1
18-9208786-AG-CA c.436_437delinsCA p.R146Q Missense 5/13 - 2
18-9208794-C-T c.444C>T p.N148= Synonymous 5/13 - 1
18-9208797-T-C c.447T>C p.S149= Synonymous 5/13 - 1
18-9208798-C-T c.448C>T p.P150S Missense 5/13 - 3
18-9208801-G-A c.451G>A p.D151N Missense 5/13 - 1
18-9208972-A-G c.451+171A>G - IntronicSNV - 5/12 3
18-9211269-A-G c.452-313A>G - IntronicSNV - 5/12 1
18-9211269-A-T c.452-313A>T - IntronicSNV - 5/12 1
18-9211404-A-AG c.452-175dup - IntronicInsertion - 5/12 1
18-9211585-C-T c.455C>T p.S152F Missense 6/13 - 1
18-9211588-CA-TG c.458_459inv p.T153M Missense 6/13 - 1
18-9211590-C-T c.460C>T p.P154S Missense 6/13 - 1
18-9211591-C-T c.461C>T p.P154L Missense 6/13 - 1
18-9211594-A-G c.464A>G p.N155S Missense 6/13 - 1
18-9211598-T-C c.468T>C p.H156= Synonymous 6/13 - 2
18-9211606-A-G c.476A>G p.Q159R Missense 6/13 - 1
18-9211603-CACAA-C c.478_481del p.T160Rfs*38 Frameshift 6/13 - 1
18-9211608-A-G c.478A>G p.T160A Missense 6/13 - 1
18-9211611-A-G c.481A>G p.T161A Missense 6/13 - 1
18-9211612-C-T c.482C>T p.T161M Missense 6/13 - 6
18-9211613-G-A c.483G>A p.T161= Synonymous 6/13 - 2
18-9211613-G-C c.483G>C p.T161= Synonymous 6/13 - 2
18-9211613-G-T c.483G>T p.T161= Synonymous 6/13 - 1
18-9211614-C-T c.484C>T p.P162S Missense 6/13 - 1
18-9211619-C-T c.489C>T p.A163= Synonymous 6/13 - 1
18-9211624-A-G c.494A>G p.K165R Missense 6/13 - 1
18-9211632-C-G c.502C>G p.P168A Missense 6/13 - 1
18-9211638-TC-CT c.508_509delinsCT p.S170L Missense 6/13 - 2
18-9211639-C-T c.509C>T p.S170F Missense 6/13 - 1
18-9211642-C-T c.512C>T p.S171L Missense 6/13 - 1
18-9211645-C-G c.515C>G p.S172C Missense 6/13 - 1
18-9211648-G-A c.518G>A p.R173Q Missense 6/13 - 1
18-9211649-A-C c.519A>C p.R173= Synonymous 6/13 - 1
18-9211654-A-T c.524A>T p.K175I Missense 6/13 - 2
18-9211656-G-C c.526G>C p.D176H Missense 6/13 - 1
18-9211657-A-T c.527A>T p.D176V Missense 6/13 - 1
18-9211659-A-G c.529A>G p.K177E Missense 6/13 - 1
18-9211662-G-A c.532G>A p.V178I Missense 6/13 - 2
18-9211666-A-G c.536A>G p.N179S Missense 6/13 - 1
18-9211671-AGA-CAT c.541_543delinsCAT p.R181H Missense 6/13 - 1
18-9211675-A-G c.545A>G p.N182S Missense 6/13 - 1
18-9211676-T-C c.546T>C p.N182= Synonymous 6/13 - 1
18-9211677-G-A c.547G>A p.E183K Missense 6/13 - 2
18-9211680-C-T c.550C>T p.R184C Missense 6/13 - 1
18-9211681-G-C c.551G>C p.R184P Missense 6/13 - 1
18-9211686-G-A c.556G>A p.E186K Missense 6/13 - 1
18-9211692-C-A c.562C>A p.P188T Missense 6/13 - 1
18-9211692-C-T c.562C>T p.P188S Missense 6/13 - 1
18-9211693-C-T c.563C>T p.P188L Missense 6/13 - 1
18-9211696-T-C c.566T>C p.L189S Missense 6/13 - 1
18-9211698-C-A c.568C>A p.H190N Missense 6/13 - 1
18-9211696-TAC-T c.570_571del p.M191Gfs*11 Frameshift 6/13 - 1
18-9211705-C-T c.575C>T p.A192V Missense 6/13 - 1
18-9211708-C-A c.578C>A p.A193D Missense 6/13 - 1
18-9211708-C-T c.578C>T p.A193V Missense 6/13 - 2
18-9211709-CT-C c.579del p.I194Ffs*5 Frameshift 6/13 - 1
18-9211713-C-G c.583C>G p.R195G Missense 6/13 - 1
18-9211713-CGA-TGT c.583_585delinsTGT p.R195C Missense 6/13 - 1
18-9211713-C-T c.583C>T p.R195* Nonsense 6/13 - 2
18-9211714-G-T c.584G>T p.R195L Missense 6/13 - 1
18-9211716-G-A c.586G>A p.G196R Missense 6/13 - 1
18-9211716-G-C c.586G>C p.G196R Missense 6/13 - 1
18-9211730-A-G c.600A>G p.Q200= Synonymous 6/13 - 3
18-9211733-T-A c.603T>A p.V201= Synonymous 6/13 - 1
18-9211733-T-C c.603T>C p.V201= Synonymous 6/13 - 1
18-9211733-T-G c.603T>G p.V201= Synonymous 6/13 - 1
18-9211737-G-A c.607G>A p.E203K Missense 6/13 - 4
18-9211755-G-T c.625G>T p.A209S Missense 6/13 - 1
18-9211759-A-G c.629A>G p.N210S Missense 6/13 - 2
18-9211762-T-G c.632T>G p.V211G Missense 6/13 - 1
18-9211769-G-A c.639G>A p.V213= Synonymous 6/13 - 1
18-9211769-G-C c.639G>C p.V213= Synonymous 6/13 - 1
18-9211769-G-T c.639G>T p.V213= Synonymous 6/13 - 1
18-9211770-A-G c.640A>G p.K214E Missense 6/13 - 1
18-9211774-AT-A c.648del p.F216Lfs*23 Frameshift 6/13 - 1
18-9211778-T-C c.648T>C p.F216= Synonymous 6/13 - 1
18-9211779-G-A c.649G>A p.A217T Missense 6/13 - 1
18-9216756-G-A c.653G>A p.G218D Missense 7/13 - 2
18-9216756-G-C c.653G>C p.G218A Missense 7/13 - 1
18-9216759-G-C c.656G>C p.W219S Missense 7/13 - 1
18-9216762-C-T c.659C>T p.T220I Missense 7/13 - 1
18-9216765-C-T c.662C>T p.P221L Missense 7/13 - 1
18-9216771-A-T c.668A>T p.H223L Missense 7/13 - 1
18-9216773-G-T c.670G>T p.E224* Nonsense 7/13 - 1
18-9216776-G-C c.673G>C p.A225P Missense 7/13 - 3
18-9216777-C-T c.674C>T p.A225V Missense 7/13 - 2
18-9216778-T-A c.675T>A p.A225= Synonymous 7/13 - 2
18-9216778-T-C c.675T>C p.A225= Synonymous 7/13 - 2
18-9216778-T-G c.675T>G p.A225= Synonymous 7/13 - 2
18-9216780-G-A c.677G>A p.C226Y Missense 7/13 - 1
18-9216785-G-C c.682G>C p.V228L Missense 7/13 - 1
18-9216786-T-C c.683T>C p.V228A Missense 7/13 - 1
18-9216788-G-A c.685G>A p.G229R Missense 7/13 - 1
18-9216794-T-TA c.692dup p.Y231* Nonsense 7/13 - 1
18-9216796-AC-A c.693del p.Y231* Frameshift 7/13 - 1
18-9216796-C-G c.693C>G p.Y231* Nonsense 7/13 - 1
18-9216797-G-A c.694G>A p.D232N Missense 7/13 - 2
18-9216798-A-G c.695A>G p.D232G Missense 7/13 - 1
18-9216799-T-C c.696T>C p.D232= Synonymous 7/13 - 1
18-9216806-A-G c.703A>G p.K235E Missense 7/13 - 1
18-9216808-G-C c.705G>C p.K235N Missense 7/13 - 1
18-9216812-C-T c.709C>T p.L237F Missense 7/13 - 1
18-9216817-A-G c.714A>G p.I238M Missense 7/13 - 1
18-9216818-G-A c.715G>A p.A239T Missense 7/13 - 2
18-9216819-C-T c.716C>T p.A239V Missense 7/13 - 1
18-9216820-A-C c.717A>C p.A239= Synonymous 7/13 - 1
18-9216820-A-G c.717A>G p.A239= Synonymous 7/13 - 1
18-9216820-A-T c.717A>T p.A239= Synonymous 7/13 - 1
18-9216821-G-C c.718G>C p.A240P Missense 7/13 - 1
18-9216822-C-T c.719C>T p.A240V Missense 7/13 - 1
18-9216824-G-A c.721G>A p.G241R Missense 7/13 - 1
18-9216824-G-C c.721G>C p.G241R Missense 7/13 - 1
18-9216825-G-C c.722G>C p.G241A Missense 7/13 - 4
18-9216828-C-A c.725C>A p.A242E Missense 7/13 - 1
18-9216833-G-A c.730G>A p.V244I Missense 7/13 - 1
18-9216836-A-C c.733A>C p.N245H Missense 7/13 - 1
18-9216839-A-G c.736A>G p.T246A Missense 7/13 - 1
18-9216842-C-T c.739C>T p.Q247* Nonsense 7/13 - 1
18-9216848-TT-CA c.745_746delinsCA p.L249Q Missense 7/13 - 1
18-9216853-T-C c.750T>C p.D250= Synonymous 7/13 - 1
18-9216863-C-G c.760C>G p.P254A Missense 7/13 - 8
18-9216864-C-G c.761C>G p.P254R Missense 7/13 - 1
18-9216858-ACACTC-A c.763_767del p.L255* Frameshift 7/13 - 1
18-9216866-AC-A c.763del p.L255Sfs*12 Frameshift 7/13 - 1
18-9216866-C-A c.763C>A p.L255I Missense 7/13 - 1
18-9216866-CTC-ATG c.763_765delinsATG p.L255M Missense 7/13 - 1
18-9216883-T-G c.780T>G p.S260R Missense 7/13 - 1
18-9216885-G-A c.782G>A p.S261N Missense 7/13 - 1
18-9216890-C-T c.787C>T p.H263Y Missense 7/13 - 1
18-9216893-A-G c.790A>G p.R264G Missense 7/13 - 1
18-9216893-AGA-TGT c.790_792delinsTGT p.R264C Missense 7/13 - 1
18-9216894-G-C c.791G>C p.R264T Missense 7/13 - 1
18-9216896-G-T c.793G>T p.D265Y Missense 7/13 - 1
18-9216897-A-C c.794A>C p.D265A Missense 7/13 - 1
18-9216899-G-A c.795+1G>A - IntronicSNV - 7/12 1
18-9221840-A-G c.796-10A>G - IntronicSNV - 7/12 3
18-9221852-A-G c.798A>G p.I266M Missense 8/13 - 1
18-9221854-T-G c.800T>G p.V267G Missense 8/13 - 3
18-9221859-C-T c.805C>T p.L269= Synonymous 8/13 - 1
18-9221865-AC-A c.811del p.L271Ffs*20 Frameshift 8/13 - 1
18-9221868-C-A c.814C>A p.R272S Missense 8/13 - 2
18-9221868-C-T c.814C>T p.R272C Missense 8/13 - 2
18-9221874-G-T c.820G>T p.G274C Missense 8/13 - 1
18-9221881-A-G c.827A>G p.N276S Missense 8/13 - 1
18-9221883-C-G c.829C>G p.P277A Missense 8/13 - 14
18-9221883-C-T c.829C>T p.P277S Missense 8/13 - 1
18-9221885-A-C c.831A>C p.P277= Synonymous 8/13 - 1
18-9221885-A-G c.831A>G p.P277= Synonymous 8/13 - 1
18-9221885-A-T c.831A>T p.P277= Synonymous 8/13 - 1
18-9221890-A-G c.836A>G p.Q279R Missense 8/13 - 1
18-9221897-T-C c.843T>C p.N281= Synonymous 8/13 - 1
18-9221902-A-C c.848A>C p.H283P Missense 8/13 - 1
18-9221902-A-T c.848A>T p.H283L Missense 8/13 - 1
18-9221906-G-A c.852G>A p.G284= Synonymous 8/13 - 1
18-9221905-GGGA-G c.853_855del p.E285del InFrameDeletion 8/13 - 1
18-9221907-G-C c.853G>C p.E285Q Missense 8/13 - 2
18-9221907-G-T c.853G>T p.E285* Nonsense 8/13 - 1
18-9221910-C-T c.856C>T p.R286C Missense 8/13 - 3
18-9221917-T-C c.863T>C p.V288A Missense 8/13 - 1
18-9221925-G-C c.871G>C p.A291P Missense 8/13 - 1
18-9221928-G-T c.874G>T p.E292* Nonsense 8/13 - 1
18-9221934-G-A c.880G>A p.E294K Missense 8/13 - 1
18-9221934-G-T c.880G>T p.E294* Nonsense 8/13 - 1
18-9221936-G-A c.882G>A p.E294= Synonymous 8/13 - 1
18-9221940-TT-CC c.886_887delinsCC p.L296P Missense 8/13 - 1
18-9221941-T-C c.887T>C p.L296S Missense 8/13 - 1
18-9221949-CTA-TGG c.895_897delinsTGG p.L299W Missense 8/13 - 1
18-9221959-G-A c.905G>A p.R302K Missense 8/13 - 1
18-9221965-T-C c.911T>C p.V304A Missense 8/13 - 1
18-9221967-C-T c.913C>T p.P305S Missense 8/13 - 1
18-9221974-C-G c.920C>G p.S307C Missense 8/13 - 1
18-9221976-G-A c.922G>A p.D308N Missense 8/13 - 1
18-9221974-CTGA-C c.930_932del p.D310del InFrameDeletion 8/13 - 2
18-9221984-T-A c.930T>A p.D310E Missense 8/13 - 1
18-9221987-A-G c.933A>G p.E311= Synonymous 8/13 - 1
18-9221988-AG-CT c.934_935inv p.S312L Missense 8/13 - 1
18-9221991-T-C c.937T>C p.Y313H Missense 8/13 - 1
18-9221991-T-TA c.938dup p.Y313* Nonsense 8/13 - 1
18-9221993-C-A c.939C>A p.Y313* Nonsense 8/13 - 3
18-9221993-C-G c.939C>G p.Y313* Nonsense 8/13 - 2
18-9221994-A-G c.940A>G p.T314A Missense 8/13 - 2
18-9221995-C-A c.941C>A p.T314K Missense 8/13 - 1
18-9222488-AT-A c.943+500del - IntronicDeletion - 8/12 1
18-9224199-T-A c.943+2202T>A - IntronicSNV - 8/12 1
18-9224406-CT-C c.943+2419del - IntronicDeletion - 8/12 1
18-9227252-G-A c.943+5255G>A - IntronicSNV - 8/12 1
18-9232997-A-G c.943+11000A>G - IntronicSNV - 8/12 1
18-9234774-A-G c.943+12777A>G - IntronicSNV - 8/12 1
18-9234794-A-G c.943+12797A>G - IntronicSNV - 8/12 1
18-9235675-G-A c.943+13678G>A - IntronicSNV - 8/12 2
18-9235675-G-C c.943+13678G>C - IntronicSNV - 8/12 2
18-9246324-T-A c.944-7885T>A - IntronicSNV - 8/12 1
18-9246324-T-C c.944-7885T>C - IntronicSNV - 8/12 1
18-9246378-C-A c.944-7831C>A - IntronicSNV - 8/12 1
18-9246378-C-T c.944-7831C>T - IntronicSNV - 8/12 1
18-9254212-C-G c.947C>G p.S316C Missense 9/13 - 1
18-9254212-C-T c.947C>T p.S316F Missense 9/13 - 1
18-9254213-C-A c.948C>A p.S316= Synonymous 9/13 - 1
18-9254213-C-T c.948C>T p.S316= Synonymous 9/13 - 1
18-9254214-G-A c.949G>A p.E317K Missense 9/13 - 1
18-9254223-C-T c.958C>T p.Q320* Nonsense 9/13 - 2
18-9254226-ATCTGTAAATCCTTCTAGT-A c.961_978del p.S321_S326del InFrameDeletion 9/13 - 1
18-9254229-G-A c.964G>A p.V322I Missense 9/13 - 1
18-9254231-A-T c.966A>T p.V322= Synonymous 9/13 - 1
18-9254235-C-T c.970C>T p.P324S Missense 9/13 - 2
18-9254236-C-G c.971C>G p.P324R Missense 9/13 - 1
18-9254248-A-G c.983A>G p.D328G Missense 9/13 - 1
18-9254250-G-C c.985G>C p.E329Q Missense 9/13 - 2
18-9254250-G-T c.985G>T p.E329* Nonsense 9/13 - 2
18-9254252-A-G c.987A>G p.E329= Synonymous 9/13 - 1
18-9254256-A-G c.991A>G p.I331V Missense 9/13 - 1
18-9254261-C-T c.996C>T p.D332= Synonymous 9/13 - 1
18-9254264-T-C c.999T>C p.S333= Synonymous 9/13 - 1
18-9254265-G-C c.1000G>C p.E334Q Missense 9/13 - 1
18-9254269-C-A c.1004C>A p.T335K Missense 9/13 - 1
18-9254272-A-T c.1007A>T p.E336V Missense 9/13 - 1
18-9254273-G-C c.1008G>C p.E336D Missense 9/13 - 2
18-9254283-C-A c.1018C>A p.L340I Missense 9/13 - 1
18-9254283-C-T c.1018C>T p.L340F Missense 9/13 - 1
18-9254290-G-A c.1025G>A p.C342Y Missense 9/13 - 1
18-9254290-G-T c.1025G>T p.C342F Missense 9/13 - 1
18-9254292-G-A c.1027G>A p.E343K Missense 9/13 - 1
18-9254295-AG-CT c.1030_1031inv p.S344L Missense 9/13 - 1
18-9254296-G-A c.1031G>A p.S344N Missense 9/13 - 2
18-9254298-A-C c.1033A>C p.K345Q Missense 9/13 - 1
18-9254299-A-T c.1034A>T p.K345I Missense 9/13 - 1
18-9254294-AAGTAAACAGATACTTCCC-A c.1036_1053del p.Q346_K351del InFrameDeletion 9/13 - 1
18-9254301-C-T c.1036C>T p.Q346* Nonsense 9/13 - 1
18-9254323-C-T c.1058C>T p.P353L Missense 9/13 - 1
18-9254325-C-T c.1060C>T p.L354F Missense 9/13 - 1
18-9254329-C-T c.1064C>T p.P355L Missense 9/13 - 2
18-9254340-G-A c.1075G>A p.D359N Missense 9/13 - 2
18-9254351-G-C c.1086G>C p.E362D Missense 9/13 - 1
18-9254355-A-C c.1090A>C p.K364Q Missense 9/13 - 1
18-9254358-G-C c.1093G>C p.D365H Missense 9/13 - 1
18-9254358-G-T c.1093G>T p.D365Y Missense 9/13 - 3
18-9254361-G-A c.1096G>A p.D366N Missense 9/13 - 1
18-9254357-AGAT-A c.1104_1106del p.D368del InFrameDeletion 9/13 - 1
18-9254369-T-A c.1104T>A p.D368E Missense 9/13 - 2
18-9254369-T-G c.1104T>G p.D368E Missense 9/13 - 1
18-9254372-A-C c.1107A>C p.E369D Missense 9/13 - 1
18-9254372-A-T c.1107A>T p.E369D Missense 9/13 - 1
18-9254373-G-A c.1108G>A p.E370K Missense 9/13 - 2
18-9254383-A-G c.1118A>G p.K373R Missense 9/13 - 2
18-9254387-G-C c.1122G>C p.M374I Missense 9/13 - 1
18-9254394-G-A c.1129G>A p.D377N Missense 9/13 - 1
18-9254399-G-A c.1134G>A p.R378= Synonymous 9/13 - 1
18-9254400-C-A c.1135C>A p.H379N Missense 9/13 - 1
18-9254400-C-G c.1135C>G p.H379D Missense 9/13 - 1
18-9254404-T-C c.1139T>C p.I380T Missense 9/13 - 1
18-9254410-G-A c.1145G>A p.R382K Missense 9/13 - 1
18-9254418-C-T c.1153C>T p.Q385* Nonsense 9/13 - 1
18-9254421-C-T c.1156C>T p.R386* Nonsense 9/13 - 1
18-9254422-G-A c.1157G>A p.R386Q Missense 9/13 - 3
18-9254422-GA-G c.1161del p.E388Kfs*74 Frameshift 9/13 - 1
18-9254426-A-AT c.1161_1162insT p.E388* Nonsense 9/13 - 1
18-9254427-AG-A c.1162del p.E388Kfs*74 Frameshift 9/13 - 1
18-9254427-G-T c.1162G>T p.E388* Nonsense 9/13 - 3
18-9254429-AAATG-A c.1167_1170del p.E390Lfs*71 Frameshift 9/13 - 1
18-9254435-A-C c.1170A>C p.E390D Missense 9/13 - 1
18-9254435-A-G c.1170A>G p.E390= Synonymous 9/13 - 1
18-9254436-ACCT-A c.1171_1173del p.P391del InFrameDeletion 9/13 - 1
18-9254436-C-T c.1171C>T p.P391S Missense 9/13 - 2
18-9254439-G-C c.1174G>C p.E392Q Missense 9/13 - 1
18-9254441-A-C c.1176A>C p.E392D Missense 9/13 - 1
18-9254441-A-T c.1176A>T p.E392D Missense 9/13 - 1
18-9254445-G-A c.1180G>A p.E394K Missense 9/13 - 2
18-9254447-A-C c.1182A>C p.E394D Missense 9/13 - 1
18-9254450-A-C c.1185A>C p.K395N Missense 9/13 - 1
18-9254450-A-T c.1185A>T p.K395N Missense 9/13 - 1
18-9254451-A-G c.1186A>G p.T396A Missense 9/13 - 1
18-9254452-C-T c.1187C>T p.T396I Missense 9/13 - 1
18-9254457-T-G c.1192T>G p.L398V Missense 9/13 - 1
18-9254458-T-A c.1193T>A p.L398* Nonsense 9/13 - 1
18-9254462-T-C c.1197T>C p.F399= Synonymous 9/13 - 1
18-9254463-G-A c.1198G>A p.A400T Missense 9/13 - 1
18-9254463-G-C c.1198G>C p.A400P Missense 9/13 - 2
18-9254472-G-A c.1207G>A p.E403K Missense 9/13 - 1
18-9254473-A-T c.1208A>T p.E403V Missense 9/13 - 1
18-9254480-C-A c.1215C>A p.A405= Synonymous 9/13 - 1
18-9254480-C-G c.1215C>G p.A405= Synonymous 9/13 - 1
18-9254480-C-T c.1215C>T p.A405= Synonymous 9/13 - 1
18-9254483-C-T c.1218C>T p.F406= Synonymous 9/13 - 1
18-9254486-T-C c.1221T>C p.Y407= Synonymous 9/13 - 1
18-9254494-C-T c.1229C>T p.S410L Missense 9/13 - 9
18-9254503-G-A c.1238G>A p.S413N Missense 9/13 - 1
18-9254503-G-GT c.1239dup p.K414* Nonsense 9/13 - 1
18-9254507-A-G c.1242A>G p.K414= Synonymous 9/13 - 1
18-9254509-A-C c.1244A>C p.K415T Missense 9/13 - 1
18-9254510-A-C c.1245A>C p.K415N Missense 9/13 - 1
18-9254510-A-T c.1245A>T p.K415N Missense 9/13 - 1
18-9254507-AAAAC-A c.1246_1249del p.Q416Sfs*45 Frameshift 9/13 - 1
18-9254511-C-A c.1246C>A p.Q416K Missense 9/13 - 2
18-9254517-C-T c.1252C>T p.P418S Missense 9/13 - 1
18-9254521-C-G c.1256C>G p.S419C Missense 9/13 - 1
18-9254523-AG-CA c.1258_1259delinsCA p.R420Q Missense 9/13 - 1
18-9254527-T-A c.1262T>A p.V421D Missense 9/13 - 1
18-9254528-C-A c.1263C>A p.V421= Synonymous 9/13 - 3
18-9254528-C-G c.1263C>G p.V421= Synonymous 9/13 - 3
18-9254528-C-T c.1263C>T p.V421= Synonymous 9/13 - 2
18-9254532-T-A c.1267T>A p.Y423N Missense 9/13 - 1
18-9254532-T-C c.1267T>C p.Y423H Missense 9/13 - 1
18-9254535-TCA-AAC c.1270_1272delinsAAC p.S424N Missense 9/13 - 1
18-9254553-G-C c.1288G>C p.D430H Missense 9/13 - 2
18-9254567-T-A c.1302T>A p.L434= Synonymous 9/13 - 1
18-9254567-T-C c.1302T>C p.L434= Synonymous 9/13 - 1
18-9254567-T-G c.1302T>G p.L434= Synonymous 9/13 - 1
18-9254568-C-T c.1303C>T p.Q435* Nonsense 9/13 - 1
18-9254573-TA-T c.1313del p.K438Rfs*24 Frameshift 9/13 - 1
18-9254578-A-C c.1313A>C p.K438T Missense 9/13 - 1
18-9254579-G-C c.1314G>C p.K438N Missense 9/13 - 2
18-9254579-G-T c.1314G>T p.K438N Missense 9/13 - 3
18-9254580-A-G c.1315A>G p.I439V Missense 9/13 - 1
18-9254580-A-T c.1315A>T p.I439F Missense 9/13 - 1
18-9254582-T-A c.1317T>A p.I439= Synonymous 9/13 - 1
18-9254582-T-C c.1317T>C p.I439= Synonymous 9/13 - 1
18-9254583-TC-CT c.1318_1319delinsCT p.S440L Missense 9/13 - 2
18-9254584-C-G c.1319C>G p.S440C Missense 9/13 - 1
18-9254588-T-A c.1323T>A p.T441= Synonymous 9/13 - 1
18-9254588-T-C c.1323T>C p.T441= Synonymous 9/13 - 1
18-9254588-T-G c.1323T>G p.T441= Synonymous 9/13 - 1
18-9254596-C-A c.1331C>A p.S444Y Missense 9/13 - 1
18-9254596-C-T c.1331C>T p.S444F Missense 9/13 - 1
18-9254598-G-A c.1333G>A p.V445I Missense 9/13 - 2
18-9254614-C-A c.1349C>A p.S450* Nonsense 9/13 - 1
18-9254619-TC-AA c.1354_1355delinsAA p.S452N Missense 9/13 - 1
18-9254627-G-A c.1362G>A p.M454I Missense 9/13 - 1
18-9254627-G-C c.1362G>C p.M454I Missense 9/13 - 1
18-9254627-G-T c.1362G>T p.M454I Missense 9/13 - 2
18-9254628-C-G c.1363C>G p.Q455E Missense 9/13 - 2
18-9254632-C-T c.1367C>T p.T456I Missense 9/13 - 1
18-9254637-A-C c.1372A>C p.K458Q Missense 9/13 - 1
18-9254638-A-AG c.1375dup p.E459Gfs*7 Frameshift 9/13 - 1
18-9254646-G-GT c.1382dup p.V462Sfs*4 Frameshift 9/13 - 1
18-9254647-T-A c.1382T>A p.V461E Missense 9/13 - 2
18-9254649-G-A c.1384G>A p.V462I Missense 9/13 - 1
18-9254653-C-T c.1388C>T p.S463L Missense 9/13 - 4
18-9254655-G-C c.1390G>C p.G464R Missense 9/13 - 1
18-9254658-G-A c.1393G>A p.E465K Missense 9/13 - 1
18-9254661-C-T c.1396C>T p.H466Y Missense 9/13 - 1
18-9254666-A-C c.1401A>C p.K467N Missense 9/13 - 2
18-9254666-A-T c.1401A>T p.K467N Missense 9/13 - 1
18-9254672-A-G c.1407A>G p.K469= Synonymous 9/13 - 1
18-9254685-AGA-CAT c.1420_1422delinsCAT p.R474H Missense 9/13 - 1
18-9254685-AGA-TGT c.1420_1422delinsTGT p.R474C Missense 9/13 - 1
18-9254685-A-C c.1420A>C p.R474= Synonymous 9/13 - 1
18-9254687-A-G c.1422A>G p.R474= Synonymous 9/13 - 3
18-9254691-T-A c.1426T>A p.L476M Missense 9/13 - 1
18-9254691-T-C c.1426T>C p.L476= Synonymous 9/13 - 1
18-9254692-T-G c.1427T>G p.L476W Missense 9/13 - 2
18-9254693-G-A c.1428G>A p.L476= Synonymous 9/13 - 2
18-9254693-G-C c.1428G>C p.L476F Missense 9/13 - 1
18-9254696-A-C c.1431A>C p.K477N Missense 9/13 - 1
18-9254706-A-C c.1441A>C p.K481Q Missense 9/13 - 1
18-9254702-GAATAAA-G c.1444_1449del p.N482_K483del InFrameDeletion 9/13 - 1
18-9254712-A-G c.1447A>G p.K483E Missense 9/13 - 1
18-9254713-A-T c.1448A>T p.K483I Missense 9/13 - 1
18-9254714-A-G c.1449A>G p.K483= Synonymous 9/13 - 1
18-9254715-G-A c.1450G>A p.E484K Missense 9/13 - 1
18-9254720-C-T c.1455C>T p.N485= Synonymous 9/13 - 1
18-9254721-C-G c.1456C>G p.Q486E Missense 9/13 - 1
18-9254721-C-T c.1456C>T p.Q486* Nonsense 9/13 - 1
18-9254724-G-GAC c.1460_1461insCA p.E487Dfs*3 Frameshift 9/13 - 1
18-9254729-A-G c.1464A>G p.L488= Synonymous 9/13 - 1
18-9254732-G-T c.1467G>T p.K489N Missense 9/13 - 1
18-9254740-A-C c.1475A>C p.K492T Missense 9/13 - 1
18-9254742-G-T c.1477G>T p.E493* Nonsense 9/13 - 1
18-9254746-G-T c.1481G>T p.G494V Missense 9/13 - 2
18-9254751-G-A c.1486G>A p.E496K Missense 9/13 - 2
18-9254757-A-T c.1492A>T p.T498S Missense 9/13 - 1
18-9254766-A-G c.1501A>G p.T501A Missense 9/13 - 1
18-9254768-A-G c.1503A>G p.T501= Synonymous 9/13 - 1
18-9254771-C-CT c.1508dup p.L503Ffs*20 Frameshift 9/13 - 1
18-9254776-C-T c.1511C>T p.T504I Missense 9/13 - 1
18-9254778-G-A c.1513G>A p.V505I Missense 9/13 - 2
18-9254778-G-C c.1513G>C p.V505L Missense 9/13 - 1
18-9254778-G-T c.1513G>T p.V505L Missense 9/13 - 1
18-9254778-GTA-ATG c.1513_1515delinsATG p.V505M Missense 9/13 - 1
18-9254779-T-C c.1514T>C p.V505A Missense 9/13 - 1
18-9254785-C-T c.1520C>T p.T507I Missense 9/13 - 10
18-9254787-G-A c.1522G>A p.G508R Missense 9/13 - 1
18-9254788-G-C c.1523G>C p.G508A Missense 9/13 - 1
18-9254794-A-G c.1529A>G p.D510G Missense 9/13 - 1
18-9254800-C-T c.1535C>T p.S512L Missense 9/13 - 1
18-9254801-A-C c.1536A>C p.S512= Synonymous 9/13 - 1
18-9254801-A-G c.1536A>G p.S512= Synonymous 9/13 - 1
18-9254801-A-T c.1536A>T p.S512= Synonymous 9/13 - 1
18-9254806-A-G c.1541A>G p.K514R Missense 9/13 - 1
18-9254807-G-T c.1542G>T p.K514N Missense 9/13 - 1
18-9254809-C-T c.1544C>T p.T515I Missense 9/13 - 1
18-9254812-G-A c.1547G>A p.R516K Missense 9/13 - 3
18-9254818-A-G c.1553A>G p.E518G Missense 9/13 - 1
18-9254818-A-T c.1553A>T p.E518V Missense 9/13 - 1
18-9254822-G-GT c.1557_1558insT p.N520* Nonsense 9/13 - 1
18-9254829-AG-CA c.1564_1565delinsCA p.R522Q Missense 9/13 - 1
18-9254829-AGG-CAT c.1564_1566delinsCAT p.R522H Missense 9/13 - 1
18-9254829-A-T c.1564A>T p.R522W Missense 9/13 - 1
18-9254830-G-A c.1565G>A p.R522K Missense 9/13 - 1
18-9254831-G-C c.1566G>C p.R522S Missense 9/13 - 1
18-9254831-G-T c.1566G>T p.R522S Missense 9/13 - 1
18-9254833-A-G c.1568A>G p.K523R Missense 9/13 - 1
18-9254836-C-A c.1571C>A p.S524Y Missense 9/13 - 1
18-9254836-C-G c.1571C>G p.S524C Missense 9/13 - 1
18-9254836-C-T c.1571C>T p.S524F Missense 9/13 - 2
18-9254838-T-C c.1573T>C p.F525L Missense 9/13 - 1
18-9254840-T-A c.1575T>A p.F525L Missense 9/13 - 1
18-9254840-T-G c.1575T>G p.F525L Missense 9/13 - 1
18-9254841-A-T c.1576A>T p.S526C Missense 9/13 - 1
18-9254843-C-A c.1578C>A p.S526R Missense 9/13 - 1
18-9254845-C-T c.1580C>T p.P527L Missense 9/13 - 1
18-9254850-G-A c.1585G>A p.D529N Missense 9/13 - 2
18-9254851-A-G c.1586A>G p.D529G Missense 9/13 - 1
18-9254856-A-G c.1591A>G p.T531A Missense 9/13 - 1
18-9254856-A-T c.1591A>T p.T531S Missense 9/13 - 3
18-9254857-C-G c.1592C>G p.T531S Missense 9/13 - 11
18-9254858-TTCA-T c.1595_1597del p.S532del InFrameDeletion 9/13 - 1
18-9254860-CA-GT c.1595_1596delinsGT p.S532C Missense 9/13 - 1
18-9254860-C-T c.1595C>T p.S532L Missense 9/13 - 1
18-9254867-T-C c.1602T>C p.H534= Synonymous 9/13 - 1
18-9254866-AT-A c.1604del p.L535Yfs*16 Frameshift 9/13 - 1
18-9254875-A-G c.1610A>G p.H537R Missense 9/13 - 6
18-9254876-T-C c.1611T>C p.H537= Synonymous 9/13 - 1
18-9254878-T-C c.1613T>C p.I538T Missense 9/13 - 1
18-9254883-A-T c.1618A>T p.T540S Missense 9/13 - 2
18-9254884-C-G c.1619C>G p.T540S Missense 9/13 - 1
18-9254890-A-T c.1625A>T p.K542I Missense 9/13 - 1
18-9254891-A-C c.1626A>C p.K542N Missense 9/13 - 1
18-9254891-A-T c.1626A>T p.K542N Missense 9/13 - 1
18-9254895-C-T c.1630C>T p.P544S Missense 9/13 - 3
18-9254901-C-G c.1636C>G p.H546D Missense 9/13 - 1
18-9254906-T-A c.1641T>A p.S547= Synonymous 9/13 - 1
18-9254906-T-C c.1641T>C p.S547= Synonymous 9/13 - 2
18-9254906-T-G c.1641T>G p.S547= Synonymous 9/13 - 1
18-9254910-GGA-AAC c.1645_1647delinsAAC p.G549N Missense 9/13 - 1
18-9254917-G-A c.1652G>A p.S551N Missense 9/13 - 1
18-9254919-G-A c.1654G>A p.E552K Missense 9/13 - 1
18-9254924-A-G c.1659A>G p.K553= Synonymous 9/13 - 1
18-9254928-GTCA-G c.1663_1665del p.S555del InFrameDeletion 9/13 - 1
18-9254935-CA-AT c.1670_1671delinsAT p.P557H Missense 9/13 - 1
18-9254937-C-G c.1672C>G p.L558V Missense 9/13 - 1
18-9254943-C-T c.1678C>T p.Q560* Nonsense 9/13 - 1
18-9254946-G-A c.1681G>A p.E561K Missense 9/13 - 2
18-9254952-A-G c.1687A>G p.T563A Missense 9/13 - 1
18-9254956-A-C c.1691A>C p.K564T Missense 9/13 - 1
18-9254958-A-G c.1693A>G p.T565A Missense 9/13 - 1
18-9254959-C-G c.1694C>G p.T565R Missense 9/13 - 1
18-9254960-A-C c.1695A>C p.T565= Synonymous 9/13 - 1
18-9254960-A-G c.1695A>G p.T565= Synonymous 9/13 - 1
18-9254960-A-T c.1695A>T p.T565= Synonymous 9/13 - 1
18-9254960-A-AT c.1696dup p.C566Lfs*8 Frameshift 9/13 - 1
18-9254964-T-A c.1699T>A p.L567I Missense 9/13 - 1
18-9254968-C-A c.1703C>A p.S568* Nonsense 9/13 - 1
18-9254968-C-G c.1703C>G p.S568* Nonsense 9/13 - 1
18-9254968-C-T c.1703C>T p.S568L Missense 9/13 - 3
18-9254974-G-A c.1709G>A p.G570E Missense 9/13 - 1
18-9254982-G-T c.1717G>T p.E573* Nonsense 9/13 - 1
18-9254983-A-G c.1718A>G p.E573G Missense 9/13 - 1
18-9254989-C-T c.1724C>T p.S575L Missense 9/13 - 1
18-9254997-C-T c.1732C>T p.P578S Missense 9/13 - 1
18-9255001-GA-G c.1736del p.D579Vfs*19 Frameshift 9/13 - 1
18-9255003-C-A c.1738C>A p.L580I Missense 9/13 - 1
18-9255003-C-G c.1738C>G p.L580V Missense 9/13 - 3
18-9255005-T-A c.1740T>A p.L580= Synonymous 9/13 - 1
18-9255005-T-C c.1740T>C p.L580= Synonymous 9/13 - 1
18-9255005-T-G c.1740T>G p.L580= Synonymous 9/13 - 1
18-9255006-GT-AC c.1741_1742inv p.V581T Missense 9/13 - 1
18-9255008-T-C c.1743T>C p.V581= Synonymous 9/13 - 2
18-9255009-C-G c.1744C>G p.R582G Missense 9/13 - 3
18-9255009-C-T c.1744C>T p.R582W Missense 9/13 - 5
18-9255010-G-A c.1745G>A p.R582Q Missense 9/13 - 1
18-9255011-G-A c.1746G>A p.R582= Synonymous 9/13 - 1
18-9255014-T-C c.1749T>C p.Y583= Synonymous 9/13 - 1
18-9255014-T-G c.1749T>G p.Y583* Nonsense 9/13 - 1
18-9255015-G-A c.1750G>A p.D584N Missense 9/13 - 1
18-9255015-G-T c.1750G>T p.D584Y Missense 9/13 - 1
18-9255021-A-C c.1756A>C p.T586P Missense 9/13 - 1
18-9255021-A-G c.1756A>G p.T586A Missense 9/13 - 1
18-9255024-G-A c.1759G>A p.E587K Missense 9/13 - 1
18-9255024-G-C c.1759G>C p.E587Q Missense 9/13 - 1
18-9255030-G-GT c.1765_1766insT p.E589Vfs*13 Frameshift 9/13 - 1
18-9255031-A-G c.1766A>G p.E589G Missense 9/13 - 1
18-9255033-T-G c.1768T>G p.F590V Missense 9/13 - 1
18-9255036-TTG-ATC c.1771_1773delinsATC p.L591I Missense 9/13 - 1
18-9255045-A-G c.1780A>G p.S594G Missense 9/13 - 1
18-9255050-A-AT c.1785_1786insT p.S596* Nonsense 9/13 - 1
18-9255050-CAA-C c.1785_1786del p.S596Cfs*5 Frameshift 9/13 - 2
18-9255051-AAG-A c.1786_1787del p.S596Cfs*5 Frameshift 9/13 - 2
18-9255051-A-T c.1786A>T p.S596C Missense 9/13 - 1
18-9255052-G-A c.1787G>A p.S596N Missense 9/13 - 1
18-9255064-G-A c.1799G>A p.C600Y Missense 9/13 - 1
18-9255064-G-GT c.1800dup p.K601* Nonsense 9/13 - 1
18-9255069-C-G c.1804C>G p.H602D Missense 9/13 - 1
18-9255069-C-CA c.1805dup p.H602Qfs*2 Frameshift 9/13 - 1
18-9255070-CA-C c.1805del p.H602Lfs*13 Frameshift 9/13 - 1
18-9255072-A-G c.1807A>G p.K603E Missense 9/13 - 1
18-9255075-G-A c.1810G>A p.E604K Missense 9/13 - 1
18-9255081-A-G c.1816A>G p.S606G Missense 9/13 - 2
18-9255082-G-A c.1817G>A p.S606N Missense 9/13 - 1
18-9255082-G-T c.1817G>T p.S606I Missense 9/13 - 1
18-9255088-A-G c.1823A>G p.H608R Missense 9/13 - 1
18-9255089-T-A c.1824T>A p.H608Q Missense 9/13 - 1
18-9255089-T-G c.1824T>G p.H608Q Missense 9/13 - 1
18-9255091-A-C c.1826A>C p.Q609P Missense 9/13 - 1
18-9255092-G-C c.1827G>C p.Q609H Missense 9/13 - 3
18-9255092-G-T c.1827G>T p.Q609H Missense 9/13 - 2
18-9255095-A-AT c.1830_1831insT p.D611* Nonsense 9/13 - 1
18-9255101-C-T c.1836C>T p.F612= Synonymous 9/13 - 2
18-9255103-A-T c.1838A>T p.H613L Missense 9/13 - 3
18-9255105-T-A c.1840T>A p.L614I Missense 9/13 - 1
18-9255107-A-C c.1842A>C p.L614F Missense 9/13 - 1
18-9255107-A-T c.1842A>T p.L614F Missense 9/13 - 1
18-9255110-A-C c.1845A>C p.E615D Missense 9/13 - 1
18-9255110-A-G c.1845A>G p.E615= Synonymous 9/13 - 1
18-9255110-A-T c.1845A>T p.E615D Missense 9/13 - 1
18-9255119-A-C c.1854A>C p.E618D Missense 9/13 - 1
18-9255123-T-G c.1858T>G p.S620A Missense 9/13 - 1
18-9255124-C-T c.1859C>T p.S620L Missense 9/13 - 5
18-9255137-A-T c.1872A>T p.I624= Synonymous 9/13 - 1
18-9255136-T-TA c.1874dup p.D626Gfs*2 Frameshift 9/13 - 1
18-9255140-G-A c.1875G>A p.K625= Synonymous 9/13 - 1
18-9255144-G-A c.1879G>A p.E627K Missense 9/13 - 6
18-9255150-C-T c.1885C>T p.H629Y Missense 9/13 - 5
18-9255150-TC-T c.1885del p.H629Ifs*12 Frameshift 9/13 - 1
18-9255152-T-C c.1887T>C p.H629= Synonymous 9/13 - 1
18-9255152-T-G c.1887T>G p.H629Q Missense 9/13 - 1
18-9255154-G-A c.1889G>A p.S630N Missense 9/13 - 1
18-9255155-T-C c.1890T>C p.S630= Synonymous 9/13 - 1
18-9255159-A-G c.1894A>G p.T632A Missense 9/13 - 1
18-9255172-C-A c.1907C>A p.S636* Nonsense 9/13 - 1
18-9255172-C-G c.1907C>G p.S636* Nonsense 9/13 - 1
18-9255172-C-T c.1907C>T p.S636L Missense 9/13 - 3
18-9255174-G-C c.1909G>C p.D637H Missense 9/13 - 1
18-9255178-G-T c.1913G>T p.C638F Missense 9/13 - 1
18-9255181-CACTG-C c.1918_1921del p.L640Kfs*10 Frameshift 9/13 - 1
18-9255184-T-A c.1919T>A p.L640Q Missense 9/13 - 1
18-9255186-A-T c.1921A>T p.K641* Nonsense 9/13 - 1
18-9255187-A-G c.1922A>G p.K641R Missense 9/13 - 1
18-9255190-A-C c.1925A>C p.K642T Missense 9/13 - 1
18-9255192-A-G c.1927A>G p.M643V Missense 9/13 - 1
18-9255193-AT-A c.1928del p.M643Rfs*8 Frameshift 9/13 - 1
18-9255194-G-A c.1929G>A p.M643I Missense 9/13 - 1
18-9255194-G-C c.1929G>C p.M643I Missense 9/13 - 1
18-9255194-G-T c.1929G>T p.M643I Missense 9/13 - 1
18-9255199-A-T c.1934A>T p.K645I Missense 9/13 - 1
18-9255205-G-A c.1940G>A p.G647D Missense 9/13 - 2
18-9255213-T-G c.1948T>G p.L650V Missense 9/13 - 1
18-9255216-A-G c.1951A>G p.K651E Missense 9/13 - 2
18-9255218-A-G c.1953A>G p.K651= Synonymous 9/13 - 1
18-9255219-A-G c.1954A>G p.K652E Missense 9/13 - 1
18-9255220-A-G c.1955A>G p.K652R Missense 9/13 - 2
18-9255214-TA-T c.1956del p.K652Nfs*4 Frameshift 9/13 - 2
18-9255214-T-TA c.1956dup p.H653Tfs*2 Frameshift 9/13 - 1
18-9255222-C-A c.1957C>A p.H653N Missense 9/13 - 1
18-9255222-CAT-C c.1959_1960del p.H653Qfs*5 Frameshift 9/13 - 1
18-9255224-T-C c.1959T>C p.H653= Synonymous 9/13 - 1
18-9255233-G-T c.1968G>T p.K656N Missense 9/13 - 1
18-9255235-A-G c.1970A>G p.H657R Missense 9/13 - 1
18-9255236-TAAAG-T c.1973_1976del p.K658Rfs*53 Frameshift 9/13 - 1
18-9255240-G-A c.1975G>A p.E659K Missense 9/13 - 1
18-9255242-G-A c.1977G>A p.E659= Synonymous 9/13 - 2
18-9255238-AAG-A c.1978_1979del p.R660Gfs*6 Frameshift 9/13 - 1
18-9255245-G-C c.1980G>C p.R660S Missense 9/13 - 1
18-9255245-G-T c.1980G>T p.R660S Missense 9/13 - 1
18-9255251-A-AT c.1986_1987insT p.E663* Nonsense 9/13 - 1
18-9255248-AAAAG-A c.1987_1990del p.E663Sfs*48 Frameshift 9/13 - 1
18-9255252-G-A c.1987G>A p.E663K Missense 9/13 - 1
18-9255247-AAAAAG-A c.1988_1992del p.E663Afs*2 Frameshift 9/13 - 1
18-9255253-A-G c.1988A>G p.E663G Missense 9/13 - 1
18-9255256-A-G c.1991A>G p.K664R Missense 9/13 - 1
18-9255259-A-T c.1994A>T p.H665L Missense 9/13 - 1
18-9255261-A-G c.1996A>G p.K666E Missense 9/13 - 1
18-9255260-TA-T c.2001del p.E668Kfs*44 Frameshift 9/13 - 3
18-9255266-A-AT c.2001_2002insT p.E668* Nonsense 9/13 - 1
18-9255267-G-T c.2002G>T p.E668* Nonsense 9/13 - 1
18-9255270-A-G c.2005A>G p.I669V Missense 9/13 - 1
18-9255279-G-A c.2014G>A p.E672K Missense 9/13 - 2
18-9255281-A-G c.2016A>G p.E672= Synonymous 9/13 - 1
18-9255293-C-A c.2028C>A p.Y676* Nonsense 9/13 - 2
18-9255293-C-G c.2028C>G p.Y676* Nonsense 9/13 - 2
18-9255300-A-T c.2035A>T p.K679* Nonsense 9/13 - 1
18-9255302-G-A c.2037G>A p.K679= Synonymous 9/13 - 1
18-9255309-G-C c.2044G>C p.A682P Missense 9/13 - 1
18-9255315-G-A c.2050G>A p.E684K Missense 9/13 - 2
18-9255315-G-C c.2050G>C p.E684Q Missense 9/13 - 2
18-9255323-G-A c.2058G>A p.Q686= Synonymous 9/13 - 1
18-9255325-G-A c.2060G>A p.R687K Missense 9/13 - 2
18-9255326-G-A c.2061G>A p.R687= Synonymous 9/13 - 1
18-9255333-G-A c.2068G>A p.E690K Missense 9/13 - 4
18-9255339-G-A c.2074G>A p.D692N Missense 9/13 - 2
18-9255339-G-C c.2074G>C p.D692H Missense 9/13 - 2
18-9255343-G-A c.2078G>A p.R693K Missense 9/13 - 1
18-9255354-A-G c.2089A>G p.K697E Missense 9/13 - 1
18-9255357-G-A c.2092G>A p.E698K Missense 9/13 - 2
18-9255357-G-C c.2092G>C p.E698Q Missense 9/13 - 3
18-9255358-GA-G c.2093del p.E698Gfs*14 Frameshift 9/13 - 1
18-9255355-AAG-A c.2094_2095del p.N699Ffs*3 Frameshift 9/13 - 1
18-9255359-G-C c.2094G>C p.E698D Missense 9/13 - 1
18-9255359-G-GT c.2094_2095insT p.N699* Nonsense 9/13 - 1
18-9255359-G-T c.2094G>T p.E698D Missense 9/13 - 3
18-9255363-T-G c.2098T>G p.F700V Missense 9/13 - 1
18-9255365-T-C c.2100T>C p.F700= Synonymous 9/13 - 1
18-9255366-T-C c.2101T>C p.F701L Missense 9/13 - 1
18-9255366-T-G c.2101T>G p.F701V Missense 9/13 - 1
18-9255368-T-A c.2103T>A p.F701L Missense 9/13 - 1
18-9255368-T-G c.2103T>G p.F701L Missense 9/13 - 1
18-9255361-A-AT c.2103dup p.K702* Nonsense 9/13 - 1
18-9255369-A-T c.2104A>T p.K702* Nonsense 9/13 - 4
18-9255369-TAAAAG-T c.2104_2108del p.K702* Frameshift 9/13 - 1
18-9255378-G-C c.2113G>C p.E705Q Missense 9/13 - 1
18-9255384-G-A c.2119G>A p.E707K Missense 9/13 - 1
18-9255384-G-C c.2119G>C p.E707Q Missense 9/13 - 1
18-9255386-A-G c.2121A>G p.E707= Synonymous 9/13 - 1
18-9255387-G-A c.2122G>A p.D708N Missense 9/13 - 1
18-9255389-T-A c.2124T>A p.D708E Missense 9/13 - 1
18-9255389-T-G c.2124T>G p.D708E Missense 9/13 - 1
18-9255390-C-T c.2125C>T p.L709F Missense 9/13 - 2
18-9255392-CTT-C c.2131_2132del p.L711Kfs*5 Frameshift 9/13 - 4
18-9255402-A-G c.2137A>G p.M713V Missense 9/13 - 1
18-9255405-G-A c.2140G>A p.E714K Missense 9/13 - 2
18-9255410-T-C c.2145T>C p.H715= Synonymous 9/13 - 1
18-9255416-CT-C c.2153del p.L718* Frameshift 9/13 - 1
18-9255421-CA-TG c.2156_2157inv p.T719M Missense 9/13 - 1
18-9255422-A-C c.2157A>C p.T719= Synonymous 9/13 - 1
18-9255422-A-G c.2157A>G p.T719= Synonymous 9/13 - 1
18-9255422-A-T c.2157A>T p.T719= Synonymous 9/13 - 1
18-9255424-T-G c.2159T>G p.L720* Nonsense 9/13 - 1
18-9255425-A-ATTTT c.2160_2161insTTTT p.E721Ffs*2 Frameshift 9/13 - 1
18-9255426-G-A c.2161G>A p.E721K Missense 9/13 - 1
18-9255426-G-C c.2161G>C p.E721Q Missense 9/13 - 3
18-9255427-A-G c.2162A>G p.E721G Missense 9/13 - 1
18-9255428-A-G c.2163A>G p.E721= Synonymous 9/13 - 2
18-9255430-A-C c.2165A>C p.K722T Missense 9/13 - 1
18-9255426-GA-G c.2169del p.K723Nfs*45 Frameshift 9/13 - 8
18-9255426-G-GA c.2169dup p.S724Ifs*10 Frameshift 9/13 - 1
18-9255435-T-A c.2170T>A p.S724T Missense 9/13 - 1
18-9255436-C-T c.2171C>T p.S724L Missense 9/13 - 5
18-9255438-A-C c.2173A>C p.K725Q Missense 9/13 - 1
18-9255444-G-A c.2179G>A p.E727K Missense 9/13 - 1
18-9255445-A-G c.2180A>G p.E727G Missense 9/13 - 1
18-9255449-A-G c.2184A>G p.K728= Synonymous 9/13 - 3
18-9255449-A-T c.2184A>T p.K728N Missense 9/13 - 1
18-9255444-GA-G c.2186del p.N729Tfs*39 Frameshift 9/13 - 1
18-9255444-G-GA c.2186dup p.N729Kfs*5 Frameshift 9/13 - 2
18-9255451-A-G c.2186A>G p.N729S Missense 9/13 - 1
18-9255452-AC-A c.2187del p.N729Kfs*39 Frameshift 9/13 - 1
18-9255455-C-T c.2190C>T p.I730= Synonymous 9/13 - 1
18-9255459-G-T c.2194G>T p.D732Y Missense 9/13 - 2
18-9255462-G-A c.2197G>A p.D733N Missense 9/13 - 1
18-9255469-C-T c.2204C>T p.S735L Missense 9/13 - 2
18-9255470-A-C c.2205A>C p.S735= Synonymous 9/13 - 1
18-9255470-A-G c.2205A>G p.S735= Synonymous 9/13 - 1
18-9255470-A-T c.2205A>T p.S735= Synonymous 9/13 - 1
18-9255471-A-G c.2206A>G p.T736A Missense 9/13 - 10
18-9255468-TCAAC-T c.2207_2210del p.T736Rfs*31 Frameshift 9/13 - 1
18-9255476-G-C c.2211G>C p.K737N Missense 9/13 - 1
18-9255476-G-T c.2211G>T p.K737N Missense 9/13 - 1
18-9255477-G-A c.2212G>A p.E738K Missense 9/13 - 1
18-9255477-G-C c.2212G>C p.E738Q Missense 9/13 - 1
18-9255483-C-T c.2218C>T p.H740Y Missense 9/13 - 1
18-9255487-GT-G c.2222del p.V741Gfs*27 Frameshift 9/13 - 1
18-9255491-A-C c.2226A>C p.S742= Synonymous 9/13 - 1
18-9255491-A-G c.2226A>G p.S742= Synonymous 9/13 - 1
18-9255491-A-T c.2226A>T p.S742= Synonymous 9/13 - 1
18-9255494-A-ATTTT c.2229_2230insTTTT p.E744Ffs*2 Frameshift 9/13 - 1
18-9255500-G-A c.2235G>A p.R745= Synonymous 9/13 - 1
18-9255510-G-A c.2245G>A p.E749K Missense 9/13 - 1
18-9255513-G-C c.2248G>C p.E750Q Missense 9/13 - 1
18-9255516-C-G c.2251C>G p.R751G Missense 9/13 - 1
18-9255516-C-T c.2251C>T p.R751* Nonsense 9/13 - 4
18-9255517-G-A c.2252G>A p.R751Q Missense 9/13 - 1
18-9255516-CGA-C c.2254_2255del p.D752Qfs*3 Frameshift 9/13 - 1
18-9255522-CAA-C c.2257_2258del p.K753Dfs*2 Frameshift 9/13 - 1
18-9255525-A-T c.2260A>T p.I754F Missense 9/13 - 1
18-9255534-G-C c.2269G>C p.E757Q Missense 9/13 - 1
18-9255539-C-G c.2274C>G p.S758R Missense 9/13 - 3
18-9255539-C-T c.2274C>T p.S758= Synonymous 9/13 - 4
18-9255540-G-A c.2275G>A p.E759K Missense 9/13 - 2
18-9255547-C-A c.2282C>A p.S761Y Missense 9/13 - 4
18-9255550-T-C c.2285T>C p.F762S Missense 9/13 - 1
18-9255553-G-T c.2288G>T p.R763M Missense 9/13 - 1
18-9255554-G-C c.2289G>C p.R763S Missense 9/13 - 1
18-9255554-G-T c.2289G>T p.R763S Missense 9/13 - 1
18-9255555-G-A c.2290G>A p.E764K Missense 9/13 - 1
18-9255558-G-A c.2293G>A p.E765K Missense 9/13 - 1
18-9255558-G-GA c.2299dup p.I767Nfs*15 Frameshift 9/13 - 1
18-9255565-T-G c.2300T>G p.I767R Missense 9/13 - 1
18-9255570-AG-A c.2305del p.D769Ifs*2 Frameshift 9/13 - 1
18-9255570-G-A c.2305G>A p.D769N Missense 9/13 - 1
18-9255570-G-GC c.2305_2306insC p.D769Afs*13 Frameshift 9/13 - 1
18-9255571-A-G c.2306A>G p.D769G Missense 9/13 - 1
18-9255572-T-C c.2307T>C p.D769= Synonymous 9/13 - 1
18-9255573-C-A c.2308C>A p.L770I Missense 9/13 - 1
18-9255574-T-G c.2309T>G p.L770R Missense 9/13 - 1
18-9255576-A-C c.2311A>C p.K771Q Missense 9/13 - 1
18-9255575-AAAAG-A c.2313_2316del p.E772Rfs*18 Frameshift 9/13 - 1
18-9255580-GAA-G c.2315_2316del p.E772Gfs*9 Frameshift 9/13 - 1
18-9255581-A-C c.2316A>C p.E772D Missense 9/13 - 1
18-9255581-A-T c.2316A>T p.E772D Missense 9/13 - 1
18-9255584-G-C c.2319G>C p.E773D Missense 9/13 - 4
18-9255584-G-T c.2319G>T p.E773D Missense 9/13 - 3
18-9255580-AAG-A c.2323_2324del p.E775Kfs*6 Frameshift 9/13 - 1
18-9255588-G-A c.2323G>A p.E775K Missense 9/13 - 1
18-9255588-G-C c.2323G>C p.E775Q Missense 9/13 - 1
18-9255609-G-A c.2344G>A p.D782N Missense 9/13 - 1
18-9255615-G-T c.2350G>T p.E784* Nonsense 9/13 - 1
18-9255625-C-A c.2360C>A p.S787Y Missense 9/13 - 2
18-9255629-G-C c.2364G>C p.L788F Missense 9/13 - 1
18-9255629-G-T c.2364G>T p.L788F Missense 9/13 - 1
18-9255639-G-A c.2374G>A p.A792T Missense 9/13 - 1
18-9255645-G-C c.2380G>C p.E794Q Missense 9/13 - 1
18-9255647-G-C c.2382G>C p.E794D Missense 9/13 - 1
18-9255647-G-T c.2382G>T p.E794D Missense 9/13 - 1
18-9255649-A-G c.2384A>G p.E795G Missense 9/13 - 1
18-9255651-T-C c.2386T>C p.S796P Missense 9/13 - 1
18-9255652-C-A c.2387C>A p.S796Y Missense 9/13 - 1
18-9255657-G-T c.2392G>T p.G798W Missense 9/13 - 2
18-9255664-AT-A c.2402del p.L801* Frameshift 9/13 - 1
18-9255670-T-C c.2405T>C p.V802A Missense 9/13 - 1
18-9255671-G-T c.2406G>T p.V802= Synonymous 9/13 - 1
18-9255675-A-G c.2410A>G p.K804E Missense 9/13 - 1
18-9255679-A-G c.2414A>G p.E805G Missense 9/13 - 1
18-9255679-A-T c.2414A>T p.E805V Missense 9/13 - 1
18-9255681-A-G c.2416A>G p.I806V Missense 9/13 - 1
18-9255684-G-A c.2419G>A p.D807N Missense 9/13 - 1
18-9255690-G-A c.2425G>A p.E809K Missense 9/13 - 1
18-9255690-G-T c.2425G>T p.E809* Nonsense 9/13 - 1
18-9255701-A-C c.2436A>C p.E812D Missense 9/13 - 2
18-9255701-A-T c.2436A>T p.E812D Missense 9/13 - 2
18-9255702-A-G c.2437A>G p.K813E Missense 9/13 - 1
18-9255707-T-A c.2442T>A p.H814Q Missense 9/13 - 1
18-9255707-T-G c.2442T>G p.H814Q Missense 9/13 - 1
18-9255708-A-G c.2443A>G p.I815V Missense 9/13 - 1
18-9255714-G-C c.2449G>C p.E817Q Missense 9/13 - 1
18-9255717-AG-GC c.2452_2453delinsGC p.S818A Missense 9/13 - 1
18-9255718-G-A c.2453G>A p.S818N Missense 9/13 - 14
18-9255718-G-C c.2453G>C p.S818T Missense 9/13 - 1
18-9255719-T-G c.2454T>G p.S818R Missense 9/13 - 1
18-9255720-A-C c.2455A>C p.K819Q Missense 9/13 - 1
18-9255736-A-G c.2471A>G p.K824R Missense 9/13 - 1
18-9255738-CG-AC c.2473_2474delinsAC p.R825T Missense 9/13 - 1
18-9255738-C-T c.2473C>T p.R825* Nonsense 9/13 - 1
18-9255739-G-A c.2474G>A p.R825Q Missense 9/13 - 4
18-9255745-A-G c.2480A>G p.Q827R Missense 9/13 - 1
18-9255746-A-T c.2481A>T p.Q827H Missense 9/13 - 1
18-9255744-CAAATT-C c.2483_2487del p.I828Rfs*5 Frameshift 9/13 - 1
18-9255753-G-A c.2488G>A p.E830K Missense 9/13 - 1
18-9255753-G-C c.2488G>C p.E830Q Missense 9/13 - 1
18-9255765-G-C c.2500G>C p.E834Q Missense 9/13 - 1
18-9255777-AG-CT c.2512_2513inv p.R838L Missense 9/13 - 1
18-9255778-G-T c.2513G>T p.R838I Missense 9/13 - 1
18-9255784-C-A c.2519C>A p.T840N Missense 9/13 - 11
18-9255784-C-T c.2519C>T p.T840I Missense 9/13 - 4
18-9255786-T-C c.2521T>C p.F841L Missense 9/13 - 1
18-9255788-T-A c.2523T>A p.F841L Missense 9/13 - 1
18-9255788-T-G c.2523T>G p.F841L Missense 9/13 - 1
18-9255794-A-G c.2529A>G p.K843= Synonymous 9/13 - 1
18-9255795-G-A c.2530G>A p.E844K Missense 9/13 - 1
18-9255790-AAAAAG-A c.2533_2537del p.K845Dfs*4 Frameshift 9/13 - 3
18-9255803-AGAT-A c.2538_2540del p.I847del InFrameDeletion 9/13 - 1
18-9255803-G-C c.2538G>C p.K846N Missense 9/13 - 1
18-9255804-A-G c.2539A>G p.I847V Missense 9/13 - 1
18-9255813-G-A c.2548G>A p.E850K Missense 9/13 - 1
18-9255829-AAG-A c.2566_2567del p.D856Qfs*5 Frameshift 9/13 - 1
18-9255831-G-C c.2566G>C p.D856H Missense 9/13 - 1
18-9255831-G-T c.2566G>T p.D856Y Missense 9/13 - 1
18-9255832-A-G c.2567A>G p.D856G Missense 9/13 - 1
18-9255834-A-G c.2569A>G p.K857E Missense 9/13 - 1
18-9255847-G-A c.2582G>A p.S861N Missense 9/13 - 2
18-9255849-G-T c.2584G>T p.E862* Nonsense 9/13 - 1
18-9255852-TG-AC c.2587_2588delinsAC p.C863T Missense 9/13 - 1
18-9255853-G-A c.2588G>A p.C863Y Missense 9/13 - 1
18-9255858-G-C c.2593G>C p.D865H Missense 9/13 - 1
18-9255858-G-T c.2593G>T p.D865Y Missense 9/13 - 1
18-9255858-GATAAA-G c.2600_2604del p.I867Rfs*15 Frameshift 9/13 - 3
18-9255866-TAAAA-T c.2601_2604del p.I867Mfs*55 Frameshift 9/13 - 1
18-9255865-TA-T c.2604del p.E869Kfs*54 Frameshift 9/13 - 1
18-9255869-A-AT c.2604_2605insT p.E869* Nonsense 9/13 - 1
18-9255866-AAAAG-A c.2605_2608del p.E869Rfs*53 Frameshift 9/13 - 1
18-9255870-G-C c.2605G>C p.E869Q Missense 9/13 - 1
18-9255865-TAAAAG-T c.2606_2610del p.E869Gfs*13 Frameshift 9/13 - 3
18-9255879-A-T c.2614A>T p.K872* Nonsense 9/13 - 1
18-9255878-CA-C c.2615del p.K872Sfs*51 Frameshift 9/13 - 1
18-9255882-C-T c.2617C>T p.L873= Synonymous 9/13 - 1
18-9255884-A-C c.2619A>C p.L873= Synonymous 9/13 - 1
18-9255884-A-G c.2619A>G p.L873= Synonymous 9/13 - 3
18-9255884-A-T c.2619A>T p.L873= Synonymous 9/13 - 1
18-9255885-T-C c.2620T>C p.Y874H Missense 9/13 - 1
18-9255886-A-T c.2621A>T p.Y874F Missense 9/13 - 1
18-9255888-T-G c.2623T>G p.S875A Missense 9/13 - 1
18-9255889-C-G c.2624C>G p.S875W Missense 9/13 - 1
18-9255889-C-T c.2624C>T p.S875L Missense 9/13 - 1
18-9255890-G-A c.2625G>A p.S875= Synonymous 9/13 - 1
18-9255890-G-T c.2625G>T p.S875= Synonymous 9/13 - 1
18-9255894-C-T c.2629C>T p.H877Y Missense 9/13 - 1
18-9255897-A-T c.2632A>T p.T878S Missense 9/13 - 1
18-9255898-CAG-C c.2635_2636del p.E879Kfs*4 Frameshift 9/13 - 1
18-9255900-G-T c.2635G>T p.E879* Nonsense 9/13 - 1
18-9255900-G-GA c.2640dup p.C881Mfs*3 Frameshift 9/13 - 1
18-9255907-G-A c.2642G>A p.C881Y Missense 9/13 - 1
18-9255911-T-A c.2646T>A p.H882Q Missense 9/13 - 1
18-9255911-T-G c.2646T>G p.H882Q Missense 9/13 - 1
18-9255912-A-G c.2647A>G p.K883E Missense 9/13 - 1
18-9255913-A-G c.2648A>G p.K883R Missense 9/13 - 25
18-9255915-G-T c.2650G>T p.E884* Nonsense 9/13 - 1
18-9255918-G-C c.2653G>C p.G885R Missense 9/13 - 1
18-9255921-G-C c.2656G>C p.E886Q Missense 9/13 - 1
18-9255924-A-T c.2659A>T p.K887* Nonsense 9/13 - 1
18-9255924-GAA-G c.2659_2660del p.K887Efs*8 Frameshift 9/13 - 1
18-9255937-C-T c.2672C>T p.T891I Missense 9/13 - 1
18-9255940-C-A c.2675C>A p.A892D Missense 9/13 - 3
18-9255940-C-T c.2675C>T p.A892V Missense 9/13 - 1
18-9255948-A-T c.2683A>T p.K895* Nonsense 9/13 - 2
18-9255950-A-C c.2685A>C p.K895N Missense 9/13 - 1
18-9255950-A-G c.2685A>G p.K895= Synonymous 9/13 - 1
18-9255950-A-T c.2685A>T p.K895N Missense 9/13 - 1
18-9255947-TAAAA-T c.2686_2689del p.K896Lfs*26 Frameshift 9/13 - 1
18-9255951-A-C c.2686A>C p.K896Q Missense 9/13 - 1
18-9255953-A-C c.2688A>C p.K896N Missense 9/13 - 2
18-9255953-A-T c.2688A>T p.K896N Missense 9/13 - 1
18-9255947-TA-T c.2689del p.T897Lfs*26 Frameshift 9/13 - 1
18-9255955-AC-A c.2690del p.T897Mfs*26 Frameshift 9/13 - 1
18-9255953-AACTG-A c.2691_2694del p.D898Tfs*24 Frameshift 9/13 - 1
18-9255957-G-T c.2692G>T p.D898Y Missense 9/13 - 1
18-9255958-A-G c.2693A>G p.D898G Missense 9/13 - 1
18-9255959-C-T c.2694C>T p.D898= Synonymous 9/13 - 2
18-9255960-G-A c.2695G>A p.D899N Missense 9/13 - 1
18-9255960-G-T c.2695G>T p.D899Y Missense 9/13 - 1
18-9255962-C-CT c.2697_2698insT p.R900* Nonsense 9/13 - 1
18-9255962-CAGAG-C c.2701_2704del p.E901Kfs*21 Frameshift 9/13 - 1
18-9255962-CAG-C c.2703_2704del p.S903* Frameshift 9/13 - 1
18-9255971-A-AT c.2706_2707insT p.S903* Nonsense 9/13 - 1
18-9255982-A-G c.2717A>G p.K906R Missense 9/13 - 40
18-9255988-A-G c.2723A>G p.D908G Missense 9/13 - 1
18-9255991-G-T c.2726G>T p.R909M Missense 9/13 - 1
18-9255992-G-C c.2727G>C p.R909S Missense 9/13 - 1
18-9255993-A-T c.2728A>T p.K910* Nonsense 9/13 - 1
18-9255992-GA-G c.2730del p.K910Nfs*13 Frameshift 9/13 - 1
18-9255997-A-C c.2732A>C p.H911P Missense 9/13 - 4
18-9255999-G-GA c.2735dup p.D912Efs*6 Frameshift 9/13 - 1
18-9256001-CAAAG-C c.2740_2743del p.E914Sfs*8 Frameshift 9/13 - 1
18-9256001-CAAAGA-C c.2741_2745del p.E914Afs*2 Frameshift 9/13 - 1
18-9256011-C-G c.2746C>G p.P916A Missense 9/13 - 1
18-9256012-C-T c.2747C>T p.P916L Missense 9/13 - 1
18-9256013-T-G c.2748T>G p.P916= Synonymous 9/13 - 1
18-9256014-G-C c.2749G>C p.E917Q Missense 9/13 - 1
18-9256014-G-T c.2749G>T p.E917* Nonsense 9/13 - 1
18-9256014-GA-G c.2754del p.E919Rfs*4 Frameshift 9/13 - 1
18-9256019-A-AT c.2754_2755insT p.E919* Nonsense 9/13 - 1
18-9256019-A-G c.2754A>G p.K918= Synonymous 9/13 - 1
18-9256019-A-T c.2754A>T p.K918N Missense 9/13 - 1
18-9256018-AAGAG-A c.2756_2759del p.E919Gfs*3 Frameshift 9/13 - 1
18-9256022-AG-A c.2757del p.R920Gfs*3 Frameshift 9/13 - 1
18-9256018-AAG-A c.2758_2759del p.R920Afs*16 Frameshift 9/13 - 1
18-9256024-G-A c.2759G>A p.R920K Missense 9/13 - 1
18-9256025-G-A c.2760G>A p.R920= Synonymous 9/13 - 1
18-9256029-C-G c.2764C>G p.L922V Missense 9/13 - 1
18-9256040-C-CT c.2775_2776insT p.K926* Nonsense 9/13 - 1
18-9256040-CAA-C c.2777_2778del p.K926Rfs*10 Frameshift 9/13 - 2
18-9256044-G-C c.2779G>C p.E927Q Missense 9/13 - 1
18-9256046-A-C c.2781A>C p.E927D Missense 9/13 - 3
18-9256049-G-T c.2784G>T p.K928N Missense 9/13 - 1
18-9256057-T-C c.2792T>C p.M931T Missense 9/13 - 1
18-9256058-G-A c.2793G>A p.M931I Missense 9/13 - 1
18-9256058-G-C c.2793G>C p.M931I Missense 9/13 - 1
18-9256058-G-T c.2793G>T p.M931I Missense 9/13 - 1
18-9256061-G-GT c.2796_2797insT p.K933* Nonsense 9/13 - 1
18-9256061-G-T c.2796G>T p.E932D Missense 9/13 - 1
18-9256067-A-AT c.2802_2803insT p.N935* Nonsense 9/13 - 2
18-9256061-GA-G c.2804del p.N935Ifs*24 Frameshift 9/13 - 4
18-9256061-G-GA c.2804dup p.N935Kfs*2 Frameshift 9/13 - 1
18-9256069-A-T c.2804A>T p.N935I Missense 9/13 - 1
18-9256069-A-AT c.2805dup p.K936* Nonsense 9/13 - 1
18-9256071-A-G c.2806A>G p.K936E Missense 9/13 - 1
18-9256070-TAAAC-T c.2808_2811del p.K936Nfs*22 Frameshift 9/13 - 4
18-9256077-T-C c.2812T>C p.S938P Missense 9/13 - 1
18-9256080-G-A c.2815G>A p.D939N Missense 9/13 - 4
18-9256082-T-A c.2817T>A p.D939E Missense 9/13 - 1
18-9256082-T-G c.2817T>G p.D939E Missense 9/13 - 1
18-9256098-AAATC-A c.2835_2838del p.S946Kfs*12 Frameshift 9/13 - 1
18-9256100-A-C c.2835A>C p.K945N Missense 9/13 - 2
18-9256100-A-T c.2835A>T p.K945N Missense 9/13 - 2
18-9256101-TCA-AAC c.2836_2838delinsAAC p.S946N Missense 9/13 - 1
18-9256110-GGC-TGG c.2845_2847delinsTGG p.G949W Missense 9/13 - 1
18-9256118-T-A c.2853T>A p.N951K Missense 9/13 - 1
18-9256118-T-G c.2853T>G p.N951K Missense 9/13 - 1
18-9256118-TAAAG-T c.2857_2860del p.E953Kfs*5 Frameshift 9/13 - 1
18-9256122-GAA-G c.2861_2862del p.K954Rfs*6 Frameshift 9/13 - 1
18-9256122-G-GA c.2862dup p.D955Rfs*6 Frameshift 9/13 - 1
18-9256126-AAGAC-A c.2864_2867del p.D955Gfs*3 Frameshift 9/13 - 1
18-9256131-CAG-C c.2866_2867del p.R956Gfs*4 Frameshift 9/13 - 1
18-9256132-G-C c.2867G>C p.R956T Missense 9/13 - 1
18-9256134-G-A c.2869G>A p.E957K Missense 9/13 - 1
18-9256140-G-A c.2875G>A p.D959N Missense 9/13 - 1
18-9256142-T-TA c.2882dup p.E962Gfs*4 Frameshift 9/13 - 1
18-9256158-A-T c.2893A>T p.R965* Nonsense 9/13 - 1
18-9256159-G-C c.2894G>C p.R965T Missense 9/13 - 1
18-9256161-G-A c.2896G>A p.D966N Missense 9/13 - 1
18-9256164-A-G c.2899A>G p.K967E Missense 9/13 - 1
18-9256165-A-T c.2900A>T p.K967I Missense 9/13 - 1
18-9256163-TAAAG-T c.2903_2906del p.E968Vfs*2 Frameshift 9/13 - 2
18-9256172-T-C c.2907T>C p.S969= Synonymous 9/13 - 1
18-9256182-A-T c.2917A>T p.T973S Missense 9/13 - 1
18-9256183-C-G c.2918C>G p.T973S Missense 9/13 - 1
18-9256196-C-T c.2931C>T p.H977= Synonymous 9/13 - 1
18-9256197-A-C c.2932A>C p.I978L Missense 9/13 - 1
18-9256197-A-G c.2932A>G p.I978V Missense 9/13 - 1
18-9256201-A-T c.2936A>T p.Q979L Missense 9/13 - 1
18-9256203-G-A c.2938G>A p.E980K Missense 9/13 - 1
18-9256206-G-C c.2941G>C p.E981Q Missense 9/13 - 1
18-9256206-GA-G c.2949del p.K983Nfs*4 Frameshift 9/13 - 7
18-9256206-G-GA c.2949dup p.S984Ifs*7 Frameshift 9/13 - 5
18-9256216-C-G c.2951C>G p.S984* Nonsense 9/13 - 1
18-9256216-C-T c.2951C>T p.S984L Missense 9/13 - 2
18-9256219-G-A c.2954G>A p.S985N Missense 9/13 - 1
18-9256222-T-C c.2957T>C p.I986T Missense 9/13 - 1
18-9256226-A-C c.2961A>C p.V987= Synonymous 9/13 - 1
18-9256230-G-T c.2965G>T p.G989C Missense 9/13 - 2
18-9256239-G-A c.2974G>A p.A992T Missense 9/13 - 1
18-9256239-G-C c.2974G>C p.A992P Missense 9/13 - 1
18-9256246-A-G c.2981A>G p.H994R Missense 9/13 - 1
18-9256248-G-A c.2983G>A p.E995K Missense 9/13 - 1
18-9256253-A-AT c.2988_2989insT p.P997Sfs*5 Frameshift 9/13 - 1
18-9256257-T-G c.2992T>G p.L998V Missense 9/13 - 1
18-9256258-T-C c.2993T>C p.L998S Missense 9/13 - 8
18-9256262-C-A c.2997C>A p.S999= Synonymous 9/13 - 1
18-9256262-C-G c.2997C>G p.S999= Synonymous 9/13 - 1
18-9256262-C-T c.2997C>T p.S999= Synonymous 9/13 - 2
18-9256263-C-A c.2998C>A p.L1000I Missense 9/13 - 1
18-9256263-C-T c.2998C>T p.L1000F Missense 9/13 - 3
18-9256266-A-T c.3001A>T p.K1001* Nonsense 9/13 - 1
18-9256269-G-A c.3004G>A p.E1002K Missense 9/13 - 2
18-9256270-A-T c.3005A>T p.E1002V Missense 9/13 - 3
18-9256271-A-T c.3006A>T p.E1002D Missense 9/13 - 1
18-9256265-TAAAGAAAAAACAAAAGATGAACCTTTGAAAACTCCAGATGGA-T c.3010_3051del p.T1004_K1017del InFrameDeletion 9/13 - 1
18-9256275-A-T c.3010A>T p.T1004S Missense 9/13 - 1
18-9256281-G-A c.3016G>A p.D1006N Missense 9/13 - 1
18-9256285-A-G c.3020A>G p.E1007G Missense 9/13 - 1
18-9256311-G-GA c.3051dup p.D1018Rfs*2 Frameshift 9/13 - 1
18-9256318-A-T c.3053A>T p.D1018V Missense 9/13 - 1
18-9256322-A-AT c.3057_3058insT p.K1020* Nonsense 9/13 - 1
18-9256311-GAAAAAGATA-G c.3058_3066del p.K1020_K1022del InFrameDeletion 9/13 - 1
18-9256319-TA-T c.3060del p.D1021Ifs*4 Frameshift 9/13 - 1
18-9256319-T-TA c.3060dup p.D1021Rfs*2 Frameshift 9/13 - 1
18-9256326-G-T c.3061G>T p.D1021Y Missense 9/13 - 1
18-9256333-A-T c.3068A>T p.D1023V Missense 9/13 - 1
18-9256333-A-AT c.3069dup p.I1024Yfs*3 Frameshift 9/13 - 1
18-9256335-A-AGG c.3070_3071insGG p.I1024Rfs*2 Frameshift 9/13 - 1
18-9256336-T-C c.3071T>C p.I1024T Missense 9/13 - 1
18-9256334-TATAG-T c.3077_3080del p.R1026Tfs*13 Frameshift 9/13 - 1
18-9256346-C-A c.3081C>A p.Y1027* Nonsense 9/13 - 1
18-9256346-C-G c.3081C>G p.Y1027* Nonsense 9/13 - 1
18-9256350-G-A c.3085G>A p.E1029K Missense 9/13 - 1
18-9256353-C-T c.3088C>T p.R1030* Nonsense 9/13 - 1
18-9256354-G-A c.3089G>A p.R1030Q Missense 9/13 - 1
18-9256365-TAAAGA-T c.3100_3104del p.K1034* Frameshift 9/13 - 1
18-9256366-AA-TG c.3101_3102delinsTG p.K1034M Missense 9/13 - 1
18-9256367-A-AT c.3102_3103insT p.D1035* Nonsense 9/13 - 1
18-9256381-T-A c.3116T>A p.I1039K Missense 9/13 - 1
18-9256381-T-C c.3116T>C p.I1039T Missense 9/13 - 1
18-9256377-CAAAT-C c.3118_3121del p.N1040Afs*5 Frameshift 9/13 - 2
18-9256387-G-A c.3122G>A p.S1041N Missense 9/13 - 1
18-9256398-C-G c.3133C>G p.L1045V Missense 9/13 - 1
18-9256402-A-AT c.3137_3138insT p.K1046Nfs*3 Frameshift 9/13 - 1
18-9256402-A-T c.3137A>T p.K1046I Missense 9/13 - 2
18-9256405-C-A c.3140C>A p.S1047Y Missense 9/13 - 1
18-9256405-C-T c.3140C>T p.S1047F Missense 9/13 - 1
18-9256405-CT-AA c.3140_3141delinsAA p.S1047* Nonsense 9/13 - 1
18-9256429-A-G c.3164A>G p.K1055R Missense 9/13 - 3
18-9256432-C-T c.3167C>T p.S1056L Missense 9/13 - 2
18-9256435-C-G c.3170C>G p.S1057* Nonsense 9/13 - 1
18-9256440-G-A c.3175G>A p.A1059T Missense 9/13 - 1
18-9256442-A-C c.3177A>C p.A1059= Synonymous 9/13 - 1
18-9256442-A-G c.3177A>G p.A1059= Synonymous 9/13 - 1
18-9256442-A-T c.3177A>T p.A1059= Synonymous 9/13 - 1
18-9256444-C-A c.3179C>A p.S1060* Nonsense 9/13 - 2
18-9256444-C-G c.3179C>G p.S1060* Nonsense 9/13 - 3
18-9256444-CA-C c.3183del p.D1062Ifs*9 Frameshift 9/13 - 1
18-9256454-C-T c.3189C>T p.T1063= Synonymous 9/13 - 1
18-9256455-C-T c.3190C>T p.R1064* Nonsense 9/13 - 1
18-9256456-GA-AT c.3191_3192delinsAT p.R1064H Missense 9/13 - 1
18-9256464-G-A c.3199G>A p.E1067K Missense 9/13 - 4
18-9256469-G-A c.3204G>A p.K1068= Synonymous 9/13 - 1
18-9256469-G-C c.3204G>C p.K1068N Missense 9/13 - 1
18-9256469-G-T c.3204G>T p.K1068N Missense 9/13 - 1
18-9256478-G-A c.3213G>A p.V1071= Synonymous 9/13 - 1
18-9256481-T-TA c.3216_3217insA p.D1073Rfs*2 Frameshift 9/13 - 1
18-9256482-G-A c.3217G>A p.D1073N Missense 9/13 - 1
18-9256484-T-C c.3219T>C p.D1073= Synonymous 9/13 - 1
18-9256489-T-G c.3224T>G p.L1075* Nonsense 9/13 - 1
18-9256493-G-C c.3228G>C p.M1076I Missense 9/13 - 1
18-9256500-A-C c.3235A>C p.S1079R Missense 9/13 - 1
18-9256504-T-G c.3239T>G p.F1080C Missense 9/13 - 1
18-9256509-C-T c.3244C>T p.R1082* Nonsense 9/13 - 2
18-9256510-G-A c.3245G>A p.R1082Q Missense 9/13 - 2
18-9256517-A-AAT c.3253_3254insTA p.S1085Ifs*6 Frameshift 9/13 - 1
18-9256518-A-G c.3253A>G p.S1085G Missense 9/13 - 2
18-9256519-G-A c.3254G>A p.S1085N Missense 9/13 - 3
18-9256521-C-T c.3256C>T p.L1086F Missense 9/13 - 1
18-9256522-T-A c.3257T>A p.L1086H Missense 9/13 - 1
18-9256529-C-T c.3264C>T p.D1088= Synonymous 9/13 - 1
18-9256530-C-A c.3265C>A p.L1089I Missense 9/13 - 1
18-9256534-A-G c.3269A>G p.E1090G Missense 9/13 - 1
18-9256539-G-T c.3274G>T p.E1092* Nonsense 9/13 - 2
18-9256542-C-A c.3277C>A p.Q1093K Missense 9/13 - 1
18-9256546-G-A c.3281G>A p.W1094* Nonsense 9/13 - 1
18-9256547-G-A c.3282G>A p.W1094* Nonsense 9/13 - 2
18-9256552-A-C c.3287A>C p.K1096T Missense 9/13 - 1
18-9256552-A-G c.3287A>G p.K1096R Missense 9/13 - 2
18-9256550-C-CA c.3291dup p.H1098Tfs*2 Frameshift 9/13 - 1
18-9256560-A-G c.3295A>G p.K1099E Missense 9/13 - 1
18-9256571-TTAA-T c.3306_3308del p.I1102_K1103delinsM MultiAAMissense 9/13 - 1
18-9256572-A-T c.3307A>T p.K1103* Nonsense 9/13 - 1
18-9256571-T-TA c.3308dup p.Q1104Afs*16 Frameshift 9/13 - 1
18-9256582-A-G c.3317A>G p.E1106G Missense 9/13 - 1
18-9256586-G-GAT c.3321_3322insAT p.E1108Mfs*4 Frameshift 9/13 - 1
18-9256587-G-A c.3322G>A p.E1108K Missense 9/13 - 2
18-9256590-C-T c.3325C>T p.R1109W Missense 9/13 - 3
18-9256591-G-A c.3326G>A p.R1109Q Missense 9/13 - 1
18-9256596-A-T c.3331A>T p.R1111* Nonsense 9/13 - 1
18-9256597-AG-A c.3332del p.R1111Kfs*6 Frameshift 9/13 - 1
18-9256597-G-A c.3332G>A p.R1111K Missense 9/13 - 1
18-9256597-G-T c.3332G>T p.R1111I Missense 9/13 - 1
18-9256600-A-G c.3335A>G p.N1112S Missense 9/13 - 1
18-9256601-C-T c.3336C>T p.N1112= Synonymous 9/13 - 1
18-9256600-A-AC c.3337dup p.R1113Pfs*7 Frameshift 9/13 - 1
18-9256602-C-T c.3337C>T p.R1113* Nonsense 9/13 - 2
18-9256603-G-A c.3338G>A p.R1113Q Missense 9/13 - 5
18-9256615-A-G c.3350A>G p.E1117G Missense 9/13 - 1
18-9256617-C-T c.3352C>T p.L1118F Missense 9/13 - 1
18-9256621-A-G c.3356A>G p.K1119R Missense 9/13 - 1
18-9256623-A-G c.3358A>G p.I1120V Missense 9/13 - 1
18-9256618-TTAAAA-T c.3359_3363del p.I1120Rfs*2 Frameshift 9/13 - 1
18-9256624-T-C c.3359T>C p.I1120T Missense 9/13 - 4
18-9256629-G-A c.3364G>A p.D1122N Missense 9/13 - 1
18-9256631-T-C c.3366T>C p.D1122= Synonymous 9/13 - 1
18-9256634-A-AT c.3369_3370insT p.E1124* Nonsense 9/13 - 1
18-9256634-A-G c.3369A>G p.K1123= Synonymous 9/13 - 2
18-9256631-TAAAG-T c.3370_3373del p.E1124Kfs*22 Frameshift 9/13 - 1
18-9256635-G-A c.3370G>A p.E1124K Missense 9/13 - 1
18-9256638-A-C c.3373A>C p.K1125Q Missense 9/13 - 1
18-9256639-A-G c.3374A>G p.K1125R Missense 9/13 - 1
18-9256635-G-GA c.3376dup p.T1126Nfs*7 Frameshift 9/13 - 1
18-9256637-AAAAAC-A c.3376_3380del p.T1126Afs*5 Frameshift 9/13 - 1
18-9256638-AAAAC-A c.3377_3380del p.T1126Sfs*20 Frameshift 9/13 - 1
18-9256639-AAAC-A c.3377_3379del p.T1126del InFrameDeletion 9/13 - 1
18-9256647-C-T c.3382C>T p.H1128Y Missense 9/13 - 1
18-9256650-A-G c.3385A>G p.T1129A Missense 9/13 - 1
18-9256650-A-T c.3385A>T p.T1129S Missense 9/13 - 1
18-9256664-C-A c.3399C>A p.S1133= Synonymous 9/13 - 1
18-9256665-A-T c.3400A>T p.K1134* Nonsense 9/13 - 1
18-9256666-A-G c.3401A>G p.K1134R Missense 9/13 - 3
18-9256669-A-G c.3404A>G p.N1135S Missense 9/13 - 1
18-9256670-TAAAG-T c.3408_3411del p.K1136Nfs*10 Frameshift 9/13 - 1
18-9256674-G-A c.3409G>A p.E1137K Missense 9/13 - 1
18-9256674-G-T c.3409G>T p.E1137* Nonsense 9/13 - 2
18-9256683-AGG-TGT c.3418_3420delinsTGT p.R1140C Missense 9/13 - 1
18-9256684-G-T c.3419G>T p.R1140M Missense 9/13 - 1
18-9256687-C-A c.3422C>A p.S1141* Nonsense 9/13 - 1
18-9256687-C-G c.3422C>G p.S1141* Nonsense 9/13 - 1
18-9256691-G-C c.3426G>C p.K1142N Missense 9/13 - 1
18-9256691-G-T c.3426G>T p.K1142N Missense 9/13 - 1
18-9256698-G-A c.3433G>A p.E1145K Missense 9/13 - 1
18-9256708-A-G c.3443A>G p.D1148G Missense 9/13 - 1
18-9256721-G-C c.3456G>C p.K1152N Missense 9/13 - 1
18-9256721-G-T c.3456G>T p.K1152N Missense 9/13 - 1
18-9256723-A-T c.3458A>T p.E1153V Missense 9/13 - 1
18-9256726-A-C c.3461A>C p.K1154T Missense 9/13 - 1
18-9256728-C-T c.3463C>T p.Q1155* Nonsense 9/13 - 1
18-9256730-A-G c.3465A>G p.Q1155= Synonymous 9/13 - 3
18-9256731-C-CTACAT c.3466_3467insTACAT p.P1156Lfs*7 Frameshift 9/13 - 1
18-9256731-C-T c.3466C>T p.P1156S Missense 9/13 - 1
18-9256740-G-A c.3475G>A p.A1159T Missense 9/13 - 1
18-9256741-C-A c.3476C>A p.A1159D Missense 9/13 - 1
18-9256742-T-A c.3477T>A p.A1159= Synonymous 9/13 - 1
18-9256742-T-C c.3477T>C p.A1159= Synonymous 9/13 - 1
18-9256742-T-G c.3477T>G p.A1159= Synonymous 9/13 - 1
18-9256742-TGTAA-T c.3482_3485del p.S1161Tfs*11 Frameshift 9/13 - 1
18-9256752-AGA-TGT c.3487_3489delinsTGT p.R1163C Missense 9/13 - 1
18-9256753-G-T c.3488G>T p.R1163I Missense 9/13 - 1
18-9256756-C-T c.3491C>T p.S1164L Missense 9/13 - 1
18-9256765-T-G c.3500T>G p.V1167G Missense 9/13 - 2
18-9256772-C-CT c.3507_3508insT p.K1170* Nonsense 9/13 - 1
18-9256774-A-C c.3509A>C p.K1170T Missense 9/13 - 1
18-9256786-C-T c.3521C>T p.T1174I Missense 9/13 - 1
18-9256797-T-TCATTA c.3535_3536insTACAT p.S1179Lfs*10 Frameshift 9/13 - 1
18-9256801-C-A c.3536C>A p.S1179Y Missense 9/13 - 1
18-9256801-C-G c.3536C>G p.S1179C Missense 9/13 - 4
18-9256810-C-T c.3545C>T p.S1182L Missense 9/13 - 1
18-9256814-T-C c.3549T>C p.D1183= Synonymous 9/13 - 1
18-9256818-AG-TT c.3553_3554delinsTT p.S1185F Missense 9/13 - 1
18-9256827-A-G c.3562A>G p.R1188G Missense 9/13 - 1
18-9256837-G-A c.3572G>A p.R1191K Missense 9/13 - 9
18-9256839-T-C c.3574T>C p.S1192P Missense 9/13 - 1
18-9256849-A-C c.3584A>C p.E1195A Missense 9/13 - 1
18-9256855-C-T c.3590C>T p.P1197L Missense 9/13 - 1
18-9256857-G-A c.3592G>A p.G1198S Missense 9/13 - 1
18-9256862-C-A c.3597C>A p.L1199= Synonymous 9/13 - 1
18-9256862-C-G c.3597C>G p.L1199= Synonymous 9/13 - 1
18-9256862-C-T c.3597C>T p.L1199= Synonymous 9/13 - 1
18-9256880-C-A c.3615C>A p.S1205= Synonymous 9/13 - 1
18-9256880-C-G c.3615C>G p.S1205= Synonymous 9/13 - 1
18-9256880-C-T c.3615C>T p.S1205= Synonymous 9/13 - 2
18-9256905-G-A c.3640G>A p.D1214N Missense 9/13 - 2
18-9256908-T-C c.3643T>C p.S1215P Missense 9/13 - 1
18-9256909-C-T c.3644C>T p.S1215F Missense 9/13 - 2
18-9256914-C-T c.3649C>T p.H1217Y Missense 9/13 - 1
18-9256923-GTG-ATC c.3658_3660delinsATC p.V1220I Missense 9/13 - 1
18-9256930-C-A c.3665C>A p.T1222N Missense 9/13 - 1
18-9256930-C-T c.3665C>T p.T1222I Missense 9/13 - 1
18-9256931-C-A c.3666C>A p.T1222= Synonymous 9/13 - 2
18-9256931-C-T c.3666C>T p.T1222= Synonymous 9/13 - 2
18-9256938-C-T c.3673C>T p.P1225S Missense 9/13 - 1
18-9256947-G-A c.3682G>A p.E1228K Missense 9/13 - 1
18-9256959-G-C c.3694G>C p.D1232H Missense 9/13 - 1
18-9256965-A-C c.3700A>C p.M1234L Missense 9/13 - 1
18-9256965-A-T c.3700A>T p.M1234L Missense 9/13 - 1
18-9256971-G-T c.3706G>T p.E1236* Nonsense 9/13 - 1
18-9256969-TAG-T c.3709_3710del p.S1237Ffs*23 Frameshift 9/13 - 1
18-9256978-C-A c.3713C>A p.S1238* Nonsense 9/13 - 1
18-9256978-C-G c.3713C>G p.S1238* Nonsense 9/13 - 1
18-9256984-C-T c.3719C>T p.S1240F Missense 9/13 - 1
18-9256987-A-G c.3722A>G p.Q1241R Missense 9/13 - 1
18-9256994-C-T c.3729C>T p.S1243= Synonymous 9/13 - 1
18-9256999-C-T c.3734C>T p.S1245F Missense 9/13 - 3
18-9257010-T-C c.3745T>C p.F1249L Missense 9/13 - 1
18-9257015-TG-T c.3750del p.L1250Ffs*42 Frameshift 9/13 - 1
18-9257017-C-A c.3752C>A p.S1251* Nonsense 9/13 - 1
18-9257017-C-G c.3752C>G p.S1251* Nonsense 9/13 - 1
18-9257017-C-T c.3752C>T p.S1251L Missense 9/13 - 1
18-9257017-TC-T c.3752del p.S1251* Frameshift 9/13 - 1
18-9257019-A-G c.3754A>G p.I1252V Missense 9/13 - 2
18-9257022-G-A c.3757G>A p.A1253T Missense 9/13 - 1
18-9257023-C-A c.3758C>A p.A1253D Missense 9/13 - 1
18-9257029-C-A c.3764C>A p.S1255Y Missense 9/13 - 1
18-9257033-T-C c.3768T>C p.P1256= Synonymous 9/13 - 1
18-9257040-C-T c.3775C>T p.H1259Y Missense 9/13 - 1
18-9257048-G-A c.3783G>A p.R1261= Synonymous 9/13 - 1
18-9257054-G-C c.3789G>C p.L1263F Missense 9/13 - 1
18-9257054-G-T c.3789G>T p.L1263F Missense 9/13 - 1
18-9257058-AG-CT c.3793_3794inv p.S1265L Missense 9/13 - 1
18-9257065-C-A c.3800C>A p.A1267D Missense 9/13 - 1
18-9257075-G-A c.3810G>A p.P1270= Synonymous 9/13 - 4
18-9257079-C-T c.3814C>T p.R1272W Missense 9/13 - 1
18-9257080-G-A c.3815G>A p.R1272Q Missense 9/13 - 3
18-9257084-T-A c.3819T>A p.I1273= Synonymous 9/13 - 2
18-9257084-T-C c.3819T>C p.I1273= Synonymous 9/13 - 2
18-9257085-A-T c.3820A>T p.K1274* Nonsense 9/13 - 1
18-9257088-C-T c.3823C>T p.P1275S Missense 9/13 - 1
18-9257089-C-T c.3824C>T p.P1275L Missense 9/13 - 1
18-9257097-G-T c.3832G>T p.A1278S Missense 9/13 - 3
18-9257118-C-T c.3853C>T p.H1285Y Missense 9/13 - 1
18-9257124-A-T c.3859A>T p.R1287W Missense 9/13 - 1
18-9257125-G-C c.3860G>C p.R1287T Missense 9/13 - 1
18-9257128-C-G c.3863C>G p.S1288* Nonsense 9/13 - 2
18-9257128-C-T c.3863C>T p.S1288L Missense 9/13 - 1
18-9257129-A-C c.3864A>C p.S1288= Synonymous 9/13 - 1
18-9257129-A-G c.3864A>G p.S1288= Synonymous 9/13 - 1
18-9257129-A-T c.3864A>T p.S1288= Synonymous 9/13 - 1
18-9257136-G-A c.3871G>A p.V1291I Missense 9/13 - 1
18-9257139-G-A c.3874G>A p.E1292K Missense 9/13 - 1
18-9257149-A-T c.3884A>T p.K1295I Missense 9/13 - 1
18-9257151-C-T c.3886C>T p.L1296= Synonymous 9/13 - 1
18-9257163-G-C c.3898G>C p.E1300Q Missense 9/13 - 1
18-9257169-A-T c.3904A>T p.R1302* Nonsense 9/13 - 1
18-9257169-A-C c.3904A>C p.R1302= Synonymous 9/13 - 1
18-9257171-A-G c.3906A>G p.R1302= Synonymous 9/13 - 1
18-9257181-G-C c.3916G>C p.E1306Q Missense 9/13 - 1
18-9257181-G-T c.3916G>T p.E1306* Nonsense 9/13 - 2
18-9257184-G-T c.3919G>T p.V1307F Missense 9/13 - 1
18-9257187-C-T c.3922C>T p.R1308* Nonsense 9/13 - 8
18-9257188-G-A c.3923G>A p.R1308Q Missense 9/13 - 5
18-9257196-A-C c.3931A>C p.S1311R Missense 9/13 - 1
18-9257198-C-A c.3933C>A p.S1311R Missense 9/13 - 1
18-9257198-C-G c.3933C>G p.S1311R Missense 9/13 - 1
18-9257201-G-A c.3936G>A p.M1312I Missense 9/13 - 1
18-9257208-G-C c.3943G>C p.V1315L Missense 9/13 - 1
18-9257210-C-A c.3945C>A p.V1315= Synonymous 9/13 - 1
18-9257210-C-G c.3945C>G p.V1315= Synonymous 9/13 - 1
18-9257210-C-T c.3945C>T p.V1315= Synonymous 9/13 - 2
18-9257211-A-G c.3946A>G p.I1316V Missense 9/13 - 1
18-9257228-A-C c.3963A>C p.K1321N Missense 9/13 - 1
18-9257228-A-T c.3963A>T p.K1321N Missense 9/13 - 1
18-9257234-C-T c.3969C>T p.F1323= Synonymous 9/13 - 4
18-9257242-T-A c.3977T>A p.I1326K Missense 9/13 - 1
18-9257247-G-T c.3982G>T p.E1328* Nonsense 9/13 - 6
18-9257250-G-C c.3985G>C p.E1329Q Missense 9/13 - 1
18-9257254-G-A c.3989G>A p.S1330N Missense 9/13 - 1
18-9257265-AG-TA c.4000_4001delinsTA p.S1334Y Missense 9/13 - 1
18-9257275-C-G c.4010C>G p.T1337S Missense 9/13 - 1
18-9257277-G-C c.4012G>C p.V1338L Missense 9/13 - 1
18-9257277-G-T c.4012G>T p.V1338L Missense 9/13 - 1
18-9257290-C-A c.4025C>A p.T1342N Missense 9/13 - 1
18-9257291-T-A c.4026T>A p.T1342= Synonymous 9/13 - 1
18-9257291-T-C c.4026T>C p.T1342= Synonymous 9/13 - 2
18-9257291-T-G c.4026T>G p.T1342= Synonymous 9/13 - 1
18-9257299-C-G c.4034C>G p.S1345C Missense 9/13 - 3
18-9257303-C-A c.4038C>A p.P1346= Synonymous 9/13 - 1
18-9257325-G-C c.4060G>C p.V1354L Missense 9/13 - 1
18-9257325-G-T c.4060G>T p.V1354L Missense 9/13 - 1
18-9257325-GTG-ATC c.4060_4062delinsATC p.V1354I Missense 9/13 - 2
18-9257329-C-T c.4064C>T p.P1355L Missense 9/13 - 1
18-9257335-G-A c.4070G>A p.R1357K Missense 9/13 - 1
18-9257344-C-G c.4079C>G p.S1360* Nonsense 9/13 - 1
18-9257346-A-C c.4081A>C p.N1361H Missense 9/13 - 1
18-9257349-G-C c.4084G>C p.V1362L Missense 9/13 - 1
18-9257349-G-T c.4084G>T p.V1362L Missense 9/13 - 2
18-9257356-A-C c.4091A>C p.N1364T Missense 9/13 - 1
18-9257358-A-G c.4093A>G p.I1365V Missense 9/13 - 1
18-9257366-C-A c.4101C>A p.S1367= Synonymous 9/13 - 1
18-9257366-C-G c.4101C>G p.S1367= Synonymous 9/13 - 1
18-9257366-C-T c.4101C>T p.S1367= Synonymous 9/13 - 1
18-9257371-T-G c.4106T>G p.F1369C Missense 9/13 - 3
18-9257373-G-A c.4108G>A p.A1370T Missense 9/13 - 1
18-9257376-A-C c.4111A>C p.T1371P Missense 9/13 - 1
18-9257376-A-G c.4111A>G p.T1371A Missense 9/13 - 1
18-9257391-G-A c.4126G>A p.A1376T Missense 9/13 - 1
18-9257404-A-C c.4139A>C p.K1380T Missense 9/13 - 1
18-9257405-G-C c.4140G>C p.K1380N Missense 9/13 - 1
18-9257405-G-T c.4140G>T p.K1380N Missense 9/13 - 1
18-9257412-T-TC c.4148dup p.A1384Sfs*2 Frameshift 9/13 - 1
18-9257413-C-G c.4148C>G p.S1383* Nonsense 9/13 - 1
18-9257413-C-T c.4148C>T p.S1383L Missense 9/13 - 1
18-9257413-TC-T c.4148del p.S1383* Frameshift 9/13 - 1
18-9257416-C-T c.4151C>T p.A1384V Missense 9/13 - 1
18-9257421-AG-CA c.4156_4157delinsCA p.R1386Q Missense 9/13 - 1
18-9257425-A-G c.4160A>G p.N1387S Missense 9/13 - 1
18-9257427-C-A c.4162C>A p.L1388I Missense 9/13 - 1
18-9257427-C-T c.4162C>T p.L1388F Missense 9/13 - 1
18-9257432-C-G c.4167C>G p.I1389M Missense 9/13 - 1
18-9257440-CT-TG c.4175_4176delinsTG p.T1392M Missense 9/13 - 1
18-9257446-C-T c.4181C>T p.P1394L Missense 9/13 - 2
18-9257447-A-C c.4182A>C p.P1394= Synonymous 9/13 - 1
18-9257447-A-G c.4182A>G p.P1394= Synonymous 9/13 - 2
18-9257447-A-T c.4182A>T p.P1394= Synonymous 9/13 - 1
18-9257455-C-T c.4190C>T p.T1397I Missense 9/13 - 1
18-9257455-CTG-C c.4192_4193del p.V1398Nfs*11 Frameshift 9/13 - 1
18-9257460-A-T c.4195A>T p.M1399L Missense 9/13 - 1
18-9257461-T-C c.4196T>C p.M1399T Missense 9/13 - 3
18-9257463-G-A c.4198G>A p.D1400N Missense 9/13 - 1
18-9257470-C-T c.4205C>T p.P1402L Missense 9/13 - 2
18-9257481-G-A c.4216G>A p.E1406K Missense 9/13 - 1
18-9257502-G-A c.4237G>A p.V1413M Missense 9/13 - 2
18-9257505-A-T c.4240A>T p.I1414F Missense 9/13 - 1
18-9257506-T-C c.4241T>C p.I1414T Missense 9/13 - 1
18-9257517-T-C c.4252T>C p.S1418P Missense 9/13 - 1
18-9257518-C-A c.4253C>A p.S1418* Nonsense 9/13 - 1
18-9257523-G-C c.4258G>C p.E1420Q Missense 9/13 - 1
18-9257530-C-G c.4265C>G p.P1422R Missense 9/13 - 1
18-9257535-G-C c.4270G>C p.D1424H Missense 9/13 - 1
18-9257541-C-T c.4276C>T p.L1426= Synonymous 9/13 - 1
18-9257546-G-T c.4281G>T p.E1427D Missense 9/13 - 1
18-9257549-AT-A c.4286del p.L1429* Frameshift 9/13 - 1
18-9257562-G-C c.4297G>C p.D1433H Missense 9/13 - 1
18-9257563-A-G c.4298A>G p.D1433G Missense 9/13 - 1
18-9257577-A-T c.4312A>T p.N1438Y Missense 9/13 - 1
18-9257578-A-G c.4313A>G p.N1438S Missense 9/13 - 1
18-9257589-C-T c.4324C>T p.P1442S Missense 9/13 - 4
18-9257598-G-T c.4333G>T p.E1445* Nonsense 9/13 - 1
18-9257610-C-T c.4345C>T p.Q1449* Nonsense 9/13 - 1
18-9257614-GT-G c.4354del p.C1452Vfs*8 Frameshift 9/13 - 1
18-9257626-C-T c.4361C>T p.S1454F Missense 9/13 - 1
18-9257653-C-T c.4388C>T p.A1463V Missense 9/13 - 3
18-9257656-A-T c.4391A>T p.D1464V Missense 9/13 - 1
18-9257656-A-AT c.4397dup p.L1466Ffs*7 Frameshift 9/13 - 1
18-9257665-C-T c.4400C>T p.S1467F Missense 9/13 - 2
18-9257666-C-T c.4401C>T p.S1467= Synonymous 9/13 - 4
18-9257667-C-A c.4402C>A p.L1468M Missense 9/13 - 1
18-9257670-C-T c.4405C>T p.R1469C Missense 9/13 - 1
18-9257671-GC-AA c.4406_4407delinsAA p.R1469Q Missense 9/13 - 1
18-9257679-G-T c.4414G>T p.E1472* Nonsense 9/13 - 4
18-9257684-G-C c.4419G>C p.L1473= Synonymous 9/13 - 1
18-9257689-G-A c.4424G>A p.G1475E Missense 9/13 - 1
18-9257695-C-G c.4430C>G p.S1477C Missense 9/13 - 2
18-9257695-C-T c.4430C>T p.S1477F Missense 9/13 - 2
18-9257697-T-A c.4432T>A p.C1478S Missense 9/13 - 1
18-9257703-C-G c.4438C>G p.Q1480E Missense 9/13 - 1
18-9257705-G-C c.4440G>C p.Q1480H Missense 9/13 - 1
18-9257705-G-T c.4440G>T p.Q1480H Missense 9/13 - 2
18-9257706-G-T c.4441G>T p.D1481Y Missense 9/13 - 2
18-9257709-C-A c.4444C>A p.P1482T Missense 9/13 - 1
18-9257732-G-C c.4467G>C p.Q1489H Missense 9/13 - 1
18-9257732-G-T c.4467G>T p.Q1489H Missense 9/13 - 1
18-9257736-C-T c.4471C>T p.P1491S Missense 9/13 - 1
18-9257750-C-A c.4485C>A p.P1495= Synonymous 9/13 - 1
18-9257750-C-G c.4485C>G p.P1495= Synonymous 9/13 - 1
18-9257750-C-T c.4485C>T p.P1495= Synonymous 9/13 - 1
18-9257761-T-G c.4496T>G p.L1499R Missense 9/13 - 1
18-9257763-TC-GG c.4498_4499delinsGG p.S1500G Missense 9/13 - 1
18-9257764-C-G c.4499C>G p.S1500* Nonsense 9/13 - 1
18-9257766-G-A c.4501G>A p.D1501N Missense 9/13 - 2
18-9257772-GA-G c.4509del p.E1503Dfs*33 Frameshift 9/13 - 1
18-9257772-G-GA c.4509dup p.S1504Ifs*4 Frameshift 9/13 - 1
18-9257777-G-A c.4512G>A p.S1504= Synonymous 9/13 - 1
18-9257777-G-C c.4512G>C p.S1504= Synonymous 9/13 - 1
18-9257777-G-T c.4512G>T p.S1504= Synonymous 9/13 - 1
18-9257778-A-AT c.4516dup p.S1506Ffs*2 Frameshift 9/13 - 1
18-9257794-C-A c.4529C>A p.S1510Y Missense 9/13 - 1
18-9257800-C-A c.4535C>A p.S1512* Nonsense 9/13 - 1
18-9257800-C-G c.4535C>G p.S1512* Nonsense 9/13 - 1
18-9257802-T-C c.4537T>C p.Y1513H Missense 9/13 - 2
18-9257815-A-G c.4550A>G p.Q1517R Missense 9/13 - 2
18-9257820-C-T c.4555C>T p.P1519S Missense 9/13 - 1
18-9257829-T-C c.4564T>C p.L1522= Synonymous 9/13 - 1
18-9257831-A-G c.4566A>G p.L1522= Synonymous 9/13 - 1
18-9257835-C-A c.4570C>A p.Q1524K Missense 9/13 - 3
18-9257835-C-G c.4570C>G p.Q1524E Missense 9/13 - 1
18-9257840-A-AT c.4575_4576insT p.N1526* Nonsense 9/13 - 1
18-9257835-CA-C c.4577del p.N1526Mfs*10 Frameshift 9/13 - 3
18-9257835-C-CA c.4577dup p.N1526Kfs*7 Frameshift 9/13 - 4
18-9257840-AAATGCAGTTCAGATTATTAGTTCTGCTTTAGAT-A c.4577_4609del p.N1526_D1536del InFrameDeletion 9/13 - 1
18-9257846-A-C c.4581A>C p.A1527= Synonymous 9/13 - 1
18-9257846-A-G c.4581A>G p.A1527= Synonymous 9/13 - 1
18-9257846-A-T c.4581A>T p.A1527= Synonymous 9/13 - 1
18-9257863-C-A c.4598C>A p.S1533Y Missense 9/13 - 1
18-9257865-G-A c.4600G>A p.A1534T Missense 9/13 - 1
18-9257871-G-T c.4606G>T p.D1536Y Missense 9/13 - 1
18-9257879-TAATG-T c.4618_4621del p.E1540Lfs*11 Frameshift 9/13 - 1
18-9257890-C-G c.4625C>G p.T1542R Missense 9/13 - 2
18-9257895-G-T c.4630G>T p.D1544Y Missense 9/13 - 1
18-9257898-A-G c.4633A>G p.T1545A Missense 9/13 - 3
18-9257913-G-T c.4648G>T p.V1550F Missense 9/13 - 1
18-9257921-A-C c.4656A>C p.G1552= Synonymous 9/13 - 1
18-9257921-A-G c.4656A>G p.G1552= Synonymous 9/13 - 1
18-9257921-A-T c.4656A>T p.G1552= Synonymous 9/13 - 1
18-9257925-G-A c.4660G>A p.V1554I Missense 9/13 - 1
18-9257925-G-C c.4660G>C p.V1554L Missense 9/13 - 2
18-9257928-C-A c.4663C>A p.Q1555K Missense 9/13 - 1
18-9257929-A-G c.4664A>G p.Q1555R Missense 9/13 - 1
18-9257928-C-CA c.4669dup p.T1557Nfs*10 Frameshift 9/13 - 1
18-9257934-A-C c.4669A>C p.T1557P Missense 9/13 - 1
18-9257937-G-C c.4672G>C p.D1558H Missense 9/13 - 1
18-9257940-G-A c.4675G>A p.A1559T Missense 9/13 - 1
18-9257941-C-T c.4676C>T p.A1559V Missense 9/13 - 1
18-9257940-G-GC c.4677dup p.F1560Lfs*7 Frameshift 9/13 - 1
18-9257949-C-G c.4684C>G p.P1562A Missense 9/13 - 1
18-9257950-C-T c.4685C>T p.P1562L Missense 9/13 - 1
18-9257952-G-A c.4687G>A p.V1563M Missense 9/13 - 1
18-9257955-T-A c.4690T>A p.Y1564N Missense 9/13 - 1
18-9257966-C-T c.4701C>T p.S1567= Synonymous 9/13 - 1
18-9257970-A-G c.4705A>G p.I1569V Missense 9/13 - 1
18-9257973-C-G c.4708C>G p.Q1570E Missense 9/13 - 1
18-9257979-G-T c.4714G>T p.A1572S Missense 9/13 - 1
18-9257981-A-G c.4716A>G p.A1572= Synonymous 9/13 - 1
18-9257983-C-T c.4718C>T p.S1573L Missense 9/13 - 1
18-9257994-G-C c.4729G>C p.E1577Q Missense 9/13 - 1
18-9258006-A-G c.4741A>G p.T1581A Missense 9/13 - 1
18-9258025-C-T c.4760C>T p.S1587L Missense 9/13 - 4
18-9258032-G-A c.4767G>A p.K1589= Synonymous 9/13 - 1
18-9258045-A-G c.4780A>G p.S1594G Missense 9/13 - 1
18-9258052-C-T c.4787C>T p.A1596V Missense 9/13 - 2
18-9258053-C-A c.4788C>A p.A1596= Synonymous 9/13 - 2
18-9258053-C-G c.4788C>G p.A1596= Synonymous 9/13 - 2
18-9258053-C-T c.4788C>T p.A1596= Synonymous 9/13 - 3
18-9258066-A-C c.4801A>C p.N1601H Missense 9/13 - 1
18-9258083-T-C c.4818T>C p.F1606= Synonymous 9/13 - 1
18-9258084-A-G c.4819A>G p.S1607G Missense 9/13 - 1
18-9258092-A-C c.4827A>C p.L1609= Synonymous 9/13 - 1
18-9258093-A-T c.4828A>T p.T1610S Missense 9/13 - 1
18-9258094-C-G c.4829C>G p.T1610S Missense 9/13 - 1
18-9258092-AACTT-A c.4830_4833del p.Y1611Sfs*31 Frameshift 9/13 - 1
18-9258095-T-A c.4830T>A p.T1610= Synonymous 9/13 - 1
18-9258103-C-T c.4838C>T p.S1613F Missense 9/13 - 1
18-9258105-TC-CT c.4840_4841delinsCT p.S1614L Missense 9/13 - 2
18-9258106-C-T c.4841C>T p.S1614F Missense 9/13 - 2
18-9258113-C-A c.4848C>A p.G1616= Synonymous 9/13 - 2
18-9258113-C-G c.4848C>G p.G1616= Synonymous 9/13 - 2
18-9258113-C-T c.4848C>T p.G1616= Synonymous 9/13 - 2
18-9258116-T-G c.4851T>G p.H1617Q Missense 9/13 - 2
18-9258117-G-A c.4852G>A p.E1618K Missense 9/13 - 1
18-9258117-G-T c.4852G>T p.E1618* Nonsense 9/13 - 1
18-9258120-G-A c.4855G>A p.V1619I Missense 9/13 - 1
18-9258129-AG-TT c.4864_4865delinsTT p.S1622F Missense 9/13 - 1
18-9258133-C-G c.4868C>G p.T1623R Missense 9/13 - 1
18-9258135-A-C c.4870A>C p.T1624P Missense 9/13 - 11
18-9258135-A-G c.4870A>G p.T1624A Missense 9/13 - 2
18-9258144-C-T c.4879C>T p.Q1627* Nonsense 9/13 - 1
18-9258161-AAAAG-A c.4900_4903del p.E1634Tfs*8 Frameshift 9/13 - 1
18-9258165-G-C c.4900G>C p.E1634Q Missense 9/13 - 2
18-9258165-G-T c.4900G>T p.E1634* Nonsense 9/13 - 1
18-9258173-A-C c.4908A>C p.K1636N Missense 9/13 - 1
18-9258173-A-T c.4908A>T p.K1636N Missense 9/13 - 1
18-9258175-T-G c.4910T>G p.L1637R Missense 9/13 - 1
18-9258182-T-C c.4917T>C p.S1639= Synonymous 9/13 - 1
18-9258186-G-T c.4921G>T p.V1641F Missense 9/13 - 3
18-9258189-T-G c.4924T>G p.L1642V Missense 9/13 - 1
18-9258195-C-T c.4930C>T p.H1644Y Missense 9/13 - 1
18-9258199-T-G c.4934T>G p.L1645W Missense 9/13 - 4
18-9258223-G-A c.4958G>A p.C1653Y Missense 9/13 - 1
18-9258223-G-GT c.4959dup p.E1654* Nonsense 9/13 - 1
18-9258230-G-A c.4965G>A p.M1655I Missense 9/13 - 2
18-9258230-G-C c.4965G>C p.M1655I Missense 9/13 - 2
18-9258230-G-T c.4965G>T p.M1655I Missense 9/13 - 2
18-9258240-A-G c.4975A>G p.M1659V Missense 9/13 - 1
18-9258243-C-T c.4978C>T p.P1660S Missense 9/13 - 2
18-9258259-A-C c.4994A>C p.N1665T Missense 9/13 - 1
18-9258264-C-T c.4999C>T p.Q1667* Nonsense 9/13 - 1
18-9258267-G-A c.5002G>A p.D1668N Missense 9/13 - 3
18-9258271-C-T c.5006C>T p.P1669L Missense 9/13 - 2
18-9258276-C-T c.5011C>T p.H1671Y Missense 9/13 - 1
18-9258289-G-T c.5024G>T p.S1675I Missense 9/13 - 1
18-9258291-GAA-G c.5029_5030del p.K1677Vfs*8 Frameshift 9/13 - 1
18-9258308-C-T c.5043C>T p.S1681= Synonymous 9/13 - 1
18-9258309-A-G c.5044A>G p.I1682V Missense 9/13 - 8
18-9258313-A-G c.5048A>G p.E1683G Missense 9/13 - 3
18-9258319-A-T c.5054A>T p.E1685V Missense 9/13 - 1
18-9258327-C-G c.5062C>G p.Q1688E Missense 9/13 - 1
18-9258332-A-G c.5067A>G p.Q1689= Synonymous 9/13 - 1
18-9258334-G-T c.5069G>T p.S1690I Missense 9/13 - 2
18-9258343-TC-T c.5078del p.S1693* Frameshift 9/13 - 1
18-9258365-GCAGT-G c.5103_5106del p.S1702Lfs*11 Frameshift 9/13 - 1
18-9258370-C-A c.5105C>A p.S1702* Nonsense 9/13 - 1
18-9258370-C-G c.5105C>G p.S1702* Nonsense 9/13 - 1
18-9258372-A-G c.5107A>G p.T1703A Missense 9/13 - 3
18-9258375-C-G c.5110C>G p.Q1704E Missense 9/13 - 3
18-9258375-C-T c.5110C>T p.Q1704* Nonsense 9/13 - 1
18-9258381-G-T c.5116G>T p.E1706* Nonsense 9/13 - 1
18-9258388-A-T c.5123A>T p.H1708L Missense 9/13 - 2
18-9258391-A-C c.5126A>C p.K1709T Missense 9/13 - 2
18-9258394-A-G c.5129A>G p.Y1710C Missense 9/13 - 5
18-9258396-G-A c.5131G>A p.G1711S Missense 9/13 - 1
18-9258396-G-C c.5131G>C p.G1711R Missense 9/13 - 1
18-9258399-CAGTT-C c.5140_5143del p.V1714Kfs*2 Frameshift 9/13 - 1
18-9258405-G-A c.5140G>A p.V1714I Missense 9/13 - 1
18-9258415-A-T c.5150A>T p.E1717V Missense 9/13 - 1
18-9258420-G-A c.5155G>A p.E1719K Missense 9/13 - 1
18-9258423-G-A c.5158G>A p.E1720K Missense 9/13 - 1
18-9258429-G-T c.5164G>T p.A1722S Missense 9/13 - 1
18-9258430-C-T c.5165C>T p.A1722V Missense 9/13 - 4
18-9258431-C-A c.5166C>A p.A1722= Synonymous 9/13 - 1
18-9258431-C-G c.5166C>G p.A1722= Synonymous 9/13 - 1
18-9258435-G-C c.5170G>C p.D1724H Missense 9/13 - 1
18-9258434-AGAT-A c.5173_5175del p.D1725del InFrameDeletion 9/13 - 1
18-9258441-A-G c.5176A>G p.K1726E Missense 9/13 - 2
18-9258451-A-T c.5186A>T p.N1729I Missense 9/13 - 1
18-9258455-A-G c.5190A>G p.Q1730= Synonymous 9/13 - 1
18-9258453-CA-C c.5191del p.I1731Sfs*5 Frameshift 9/13 - 1
18-9258457-T-C c.5192T>C p.I1731T Missense 9/13 - 1
18-9258458-C-T c.5193C>T p.I1731= Synonymous 9/13 - 1
18-9258459-C-A c.5194C>A p.P1732T Missense 9/13 - 3
18-9258459-C-T c.5194C>T p.P1732S Missense 9/13 - 5
18-9258457-TC-T c.5195del p.P1732Lfs*4 Frameshift 9/13 - 1
18-9258460-C-T c.5195C>T p.P1732L Missense 9/13 - 2
18-9258464-A-T c.5199A>T p.Q1733H Missense 9/13 - 1
18-9258466-G-C c.5201G>C p.R1734T Missense 9/13 - 1
18-9258475-G-C c.5210G>C p.R1737T Missense 9/13 - 2
18-9258489-A-G c.5224A>G p.T1742A Missense 9/13 - 1
18-9258502-A-T c.5237A>T p.Q1746L Missense 9/13 - 1
18-9258512-G-C c.5247G>C p.Q1749H Missense 9/13 - 1
18-9258512-G-T c.5247G>T p.Q1749H Missense 9/13 - 2
18-9258514-T-G c.5249T>G p.I1750S Missense 9/13 - 1
18-9258516-C-A c.5251C>A p.L1751I Missense 9/13 - 1
18-9258516-C-G c.5251C>G p.L1751V Missense 9/13 - 1
18-9258519-G-T c.5254G>T p.A1752S Missense 9/13 - 1
18-9258528-A-G c.5263A>G p.T1755A Missense 9/13 - 1
18-9258529-C-G c.5264C>G p.T1755R Missense 9/13 - 1
18-9258531-C-T c.5266C>T p.L1756= Synonymous 9/13 - 4
18-9258533-A-C c.5268A>C p.L1756= Synonymous 9/13 - 1
18-9258533-A-G c.5268A>G p.L1756= Synonymous 9/13 - 1
18-9258533-A-T c.5268A>T p.L1756= Synonymous 9/13 - 1
18-9258537-T-C c.5272T>C p.S1758P Missense 9/13 - 11
18-9258538-C-A c.5273C>A p.S1758* Nonsense 9/13 - 1
18-9258538-C-G c.5273C>G p.S1758* Nonsense 9/13 - 1
18-9258538-C-T c.5273C>T p.S1758L Missense 9/13 - 4
18-9258539-A-C c.5274A>C p.S1758= Synonymous 9/13 - 1
18-9258539-A-G c.5274A>G p.S1758= Synonymous 9/13 - 1
18-9258539-A-T c.5274A>T p.S1758= Synonymous 9/13 - 1
18-9258540-G-A c.5275G>A p.E1759K Missense 9/13 - 1
18-9258555-TC-AT c.5290_5291delinsAT p.S1764I Missense 9/13 - 1
18-9258556-C-T c.5291C>T p.S1764F Missense 9/13 - 3
18-9258557-C-A c.5292C>A p.S1764= Synonymous 9/13 - 1
18-9258557-C-G c.5292C>G p.S1764= Synonymous 9/13 - 2
18-9258557-C-T c.5292C>T p.S1764= Synonymous 9/13 - 2
18-9258565-C-G c.5300C>G p.P1767R Missense 9/13 - 1
18-9258565-C-T c.5300C>T p.P1767L Missense 9/13 - 1
18-9258568-G-C c.5303G>C p.R1768T Missense 9/13 - 2
18-9258570-G-T c.5305G>T p.G1769* Nonsense 9/13 - 1
18-9258573-AG-CA c.5308_5309delinsCA p.R1770Q Missense 9/13 - 1
18-9258574-G-A c.5309G>A p.R1770K Missense 9/13 - 2
18-9258574-G-T c.5309G>T p.R1770I Missense 9/13 - 1
18-9258580-G-T c.5315G>T p.R1772I Missense 9/13 - 1
18-9258583-T-G c.5318T>G p.L1773* Nonsense 9/13 - 1
18-9258585-A-G c.5320A>G p.T1774A Missense 9/13 - 2
18-9258585-A-T c.5320A>T p.T1774S Missense 9/13 - 1
18-9258586-C-G c.5321C>G p.T1774S Missense 9/13 - 1
18-9258588-G-T c.5323G>T p.E1775* Nonsense 9/13 - 1
18-9258592-A-G c.5327A>G p.D1776G Missense 9/13 - 3
18-9258593-T-C c.5328T>C p.D1776= Synonymous 9/13 - 2
18-9258596-C-T c.5331C>T p.D1777= Synonymous 9/13 - 2
18-9258597-G-A c.5332G>A p.D1778N Missense 9/13 - 1
18-9258600-C-T c.5335C>T p.P1779S Missense 9/13 - 1
18-9258599-TC-T c.5336del p.P1779Lfs*20 Frameshift 9/13 - 2
18-9258603-C-T c.5338C>T p.Q1780* Nonsense 9/13 - 1
18-9258618-C-T c.5353C>T p.R1785W Missense 9/13 - 2
18-9258619-G-A c.5354G>A p.R1785Q Missense 9/13 - 3
18-9258619-G-T c.5354G>T p.R1785L Missense 9/13 - 2
18-9258620-G-A c.5355G>A p.R1785= Synonymous 9/13 - 1
18-9258620-G-T c.5355G>T p.R1785= Synonymous 9/13 - 4
18-9258623-A-AT c.5358_5359insT p.R1787* Nonsense 9/13 - 1
18-9258620-GA-G c.5359del p.R1787Gfs*12 Frameshift 9/13 - 1
18-9258632-G-A c.5367G>A p.V1789= Synonymous 9/13 - 2
18-9258632-G-C c.5367G>C p.V1789= Synonymous 9/13 - 2
18-9258632-G-T c.5367G>T p.V1789= Synonymous 9/13 - 5
18-9258636-C-T c.5371C>T p.R1791C Missense 9/13 - 2
18-9258637-G-A c.5372G>A p.R1791H Missense 9/13 - 4
18-9258639-G-A c.5374G>A p.V1792I Missense 9/13 - 2
18-9258639-G-T c.5374G>T p.V1792L Missense 9/13 - 1
18-9258643-C-G c.5378C>G p.P1793R Missense 9/13 - 1
18-9258657-G-GT c.5393dup p.S1799Efs*26 Frameshift 9/13 - 1
18-9258672-C-T c.5407C>T p.L1803= Synonymous 9/13 - 1
18-9258684-G-C c.5419G>C p.E1807Q Missense 9/13 - 2
18-9258682-AAG-A c.5421_5422del p.K1808Nfs*16 Frameshift 9/13 - 1
18-9258686-G-A c.5421G>A p.E1807= Synonymous 9/13 - 3
18-9258691-C-T c.5426C>T p.T1809I Missense 9/13 - 1
18-9258693-C-T c.5428C>T p.Q1810* Nonsense 9/13 - 1
18-9258699-TC-CT c.5434_5435delinsCT p.S1812L Missense 9/13 - 1
18-9258716-A-ATTT c.5451_5452insTTT p.V1817_D1818insF InFrameInsertion 9/13 - 2
18-9258715-TAG-T c.5452_5453del p.D1818Ffs*6 Frameshift 9/13 - 1
18-9258718-A-C c.5453A>C p.D1818A Missense 9/13 - 2
18-9258721-C-A c.5456C>A p.S1819Y Missense 9/13 - 2
18-9258721-C-T c.5456C>T p.S1819F Missense 9/13 - 1
18-9258723-C-T c.5458C>T p.L1820= Synonymous 9/13 - 1
18-9258727-A-AT c.5462_5463insT p.K1821Nfs*4 Frameshift 9/13 - 1
18-9258732-G-C c.5467G>C p.D1823H Missense 9/13 - 3
18-9258734-T-A c.5469T>A p.D1823E Missense 9/13 - 1
18-9258734-T-G c.5469T>G p.D1823E Missense 9/13 - 1
18-9258741-C-G c.5476C>G p.Q1826E Missense 9/13 - 1
18-9258741-C-T c.5476C>T p.Q1826* Nonsense 9/13 - 4
18-9258745-C-G c.5480C>G p.P1827R Missense 9/13 - 1
18-9258746-A-C c.5481A>C p.P1827= Synonymous 9/13 - 1
18-9258746-A-G c.5481A>G p.P1827= Synonymous 9/13 - 2
18-9258746-A-T c.5481A>T p.P1827= Synonymous 9/13 - 1
18-9258749-C-A c.5484C>A p.Y1828* Nonsense 9/13 - 1
18-9258751-G-T c.5486G>T p.S1829I Missense 9/13 - 1
18-9258752-T-G c.5487T>G p.S1829R Missense 9/13 - 1
18-9258753-TC-GG c.5488_5489delinsGG p.S1830G Missense 9/13 - 1
18-9258754-C-T c.5489C>T p.S1830L Missense 9/13 - 3
18-9258759-A-G c.5494A>G p.R1832G Missense 9/13 - 1
18-9258769-C-A c.5504C>A p.P1835Q Missense 9/13 - 1
18-9258771-T-C c.5506T>C p.Y1836H Missense 9/13 - 1
18-9258785-G-A c.5520G>A p.L1840= Synonymous 9/13 - 1
18-9258791-A-AT c.5526_5527insT p.R1843* Nonsense 9/13 - 1
18-9258795-A-G c.5530A>G p.K1844E Missense 9/13 - 1
18-9258795-A-T c.5530A>T p.K1844* Nonsense 9/13 - 1
18-9258797-A-AT c.5532_5533insT p.K1845* Nonsense 9/13 - 2
18-9258797-A-C c.5532A>C p.K1844N Missense 9/13 - 1
18-9258799-A-AAT c.5535_5536insTA p.I1846* Nonsense 9/13 - 1
18-9258794-GA-G c.5536del p.I1846* Frameshift 9/13 - 3
18-9258801-A-C c.5536A>C p.I1846L Missense 9/13 - 1
18-9258801-A-T c.5536A>T p.I1846L Missense 9/13 - 1
18-9258801-AT-TA c.5536_5537delinsTA p.I1846* Nonsense 9/13 - 1
18-9258814-G-A c.5549G>A p.R1850H Missense 9/13 - 4
18-9258814-G-T c.5549G>T p.R1850L Missense 9/13 - 1
18-9258817-A-G c.5552A>G p.K1851R Missense 9/13 - 1
18-9258820-T-C c.5555T>C p.L1852S Missense 9/13 - 1
18-9258821-A-G c.5556A>G p.L1852= Synonymous 9/13 - 2
18-9258828-A-G c.5563A>G p.S1855G Missense 9/13 - 1
18-9258831-GTGAT-G c.5568_5571del p.I1857Lfs*11 Frameshift 9/13 - 1
18-9258847-C-T c.5582C>T p.P1861L Missense 9/13 - 1
18-9258852-T-A c.5587T>A p.Y1863N Missense 9/13 - 1
18-9258860-C-T c.5595C>T p.D1865= Synonymous 9/13 - 4
18-9258861-G-A c.5596G>A p.E1866K Missense 9/13 - 1
18-9258861-G-GA c.5598dup p.Y1867Ifs*5 Frameshift 9/13 - 1
18-9258877-A-G c.5612A>G p.N1871S Missense 9/13 - 1
18-9258878-C-T c.5613C>T p.N1871= Synonymous 9/13 - 1
18-9258879-G-A c.5614G>A p.G1872R Missense 9/13 - 2
18-9258879-G-C c.5614G>C p.G1872R Missense 9/13 - 2
18-9258880-G-A c.5615G>A p.G1872E Missense 9/13 - 1
18-9258883-C-A c.5618C>A p.S1873* Nonsense 9/13 - 2
18-9258883-C-G c.5618C>G p.S1873* Nonsense 9/13 - 2
18-9258888-C-A c.5623C>A p.L1875I Missense 9/13 - 1
18-9258888-C-G c.5623C>G p.L1875V Missense 9/13 - 1
18-9258903-C-T c.5638C>T p.P1880S Missense 9/13 - 7
18-9258909-AG-CT c.5644_5645inv p.S1882L Missense 9/13 - 1
18-9258911-C-T c.5646C>T p.S1882= Synonymous 9/13 - 1
18-9258924-C-A c.5659C>A p.P1887T Missense 9/13 - 1
18-9258924-C-T c.5659C>T p.P1887S Missense 9/13 - 1
18-9258925-C-T c.5660C>T p.P1887L Missense 9/13 - 2
18-9258930-G-C c.5664+1G>C - IntronicSNV - 9/12 1
18-9258928-CAGTA-C c.5664+5_5664+8del - SpliceDonorDeletion - 9/12 1
18-9259170-G-A c.5664+241G>A - IntronicSNV - 9/12 3
18-9259170-G-C c.5664+241G>C - IntronicSNV - 9/12 3
18-9263787-G-GA c.5665dup p.I1889Nfs*12 SpliceAcceptorInsertion 10/13 - 1
18-9263791-A-T c.5668A>T p.T1890S Missense 10/13 - 1
18-9263793-A-C c.5670A>C p.T1890= Synonymous 10/13 - 2
18-9263793-A-G c.5670A>G p.T1890= Synonymous 10/13 - 2
18-9263793-A-T c.5670A>T p.T1890= Synonymous 10/13 - 2
18-9263795-C-G c.5672C>G p.P1891R Missense 10/13 - 1
18-9263795-C-T c.5672C>T p.P1891L Missense 10/13 - 1
18-9263804-C-T c.5681C>T p.S1894L Missense 10/13 - 4
18-9263810-C-A c.5687C>A p.S1896* Nonsense 10/13 - 2
18-9263810-C-G c.5687C>G p.S1896* Nonsense 10/13 - 1
18-9263815-C-T c.5692C>T p.P1898S Missense 10/13 - 6
18-9263816-C-T c.5693C>T p.P1898L Missense 10/13 - 1
18-9263824-G-C c.5701G>C p.E1901Q Missense 10/13 - 2
18-9263827-C-T c.5704C>T p.L1902F Missense 10/13 - 1
18-9263828-T-C c.5705T>C p.L1902P Missense 10/13 - 1
18-9263833-C-T c.5710C>T p.R1904* Nonsense 10/13 - 3
18-9263834-G-A c.5711G>A p.R1904Q Missense 10/13 - 1
18-9263834-G-T c.5711G>T p.R1904L Missense 10/13 - 1
18-9263846-T-C c.5723T>C p.V1908A Missense 10/13 - 3
18-9263854-A-G c.5731A>G p.M1911V Missense 10/13 - 2
18-9263858-A-C c.5735A>C p.K1912T Missense 10/13 - 1
18-9263860-C-A c.5737C>A p.L1913I Missense 10/13 - 1
18-9263860-C-T c.5737C>T p.L1913= Synonymous 10/13 - 1
18-9263861-T-C c.5738T>C p.L1913P Missense 10/13 - 4
18-9263864-G-A c.5741G>A p.R1914H Missense 10/13 - 3
18-9263869-C-T c.5746C>T p.Q1916* Nonsense 10/13 - 1
18-9263871-A-T c.5748A>T p.Q1916H Missense 10/13 - 1
18-9263874-C-T c.5751C>T p.H1917= Synonymous 10/13 - 1
18-9263876-G-A c.5753G>A p.S1918N Missense 10/13 - 1
18-9263881-G-A c.5758G>A p.E1920K Missense 10/13 - 1
18-9263888-T-A c.5763+2T>A - IntronicSNV - 10/12 1
18-9275522-G-A c.5764G>A p.E1922K Missense 11/13 - 2
18-9275530-C-A c.5772C>A p.L1924= Synonymous 11/13 - 2
18-9275531-A-G c.5773A>G p.I1925V Missense 11/13 - 1
18-9275532-T-C c.5774T>C p.I1925T Missense 11/13 - 2
18-9275538-C-G c.5780C>G p.S1927C Missense 11/13 - 1
18-9275538-C-T c.5780C>T p.S1927F Missense 11/13 - 1
18-9275539-C-T c.5781C>T p.S1927= Synonymous 11/13 - 4
18-9275542-C-T c.5784C>T p.N1928= Synonymous 11/13 - 8
18-9275543-G-A c.5785G>A p.E1929K Missense 11/13 - 2
18-9275543-G-T c.5785G>T p.E1929* Nonsense 11/13 - 1
18-9275549-G-T c.5791G>T p.E1931* Nonsense 11/13 - 1
18-9275546-CAAG-C c.5792_5794del p.E1931del InFrameDeletion 11/13 - 1
18-9275558-C-T c.5800C>T p.R1934* Nonsense 11/13 - 2
18-9275559-G-A c.5801G>A p.R1934Q Missense 11/13 - 1
18-9275563-T-G c.5805T>G p.V1935= Synonymous 11/13 - 6
18-9275571-G-A c.5813G>A p.R1938K Missense 11/13 - 1
18-9275574-C-A c.5816C>A p.A1939D Missense 11/13 - 1
18-9275589-C-A c.5831C>A p.A1944E Missense 11/13 - 1
18-9275593-T-A c.5835T>A p.N1945K Missense 11/13 - 1
18-9275595-A-G c.5837A>G p.Q1946R Missense 11/13 - 1
18-9275599-A-G c.5841A>G p.T1947= Synonymous 11/13 - 1
18-9275604-C-T c.5846C>T p.P1949L Missense 11/13 - 1
18-9275610-G-A c.5852G>A p.S1951N Missense 11/13 - 1
18-9275616-G-A c.5858G>A p.C1953Y Missense 11/13 - 1
18-9275627-C-T c.5869C>T p.L1957= Synonymous 11/13 - 1
18-9275634-C-T c.5876C>T p.A1959V Missense 11/13 - 1
18-9275635-C-A c.5877C>A p.A1959= Synonymous 11/13 - 1
18-9275635-C-G c.5877C>G p.A1959= Synonymous 11/13 - 1
18-9275635-C-T c.5877C>T p.A1959= Synonymous 11/13 - 3
18-9275636-G-T c.5878G>T p.E1960* Nonsense 11/13 - 1
18-9275644-C-A c.5886C>A p.Y1962* Nonsense 11/13 - 1
18-9275648-G-GT c.5891dup p.P1965Tfs*7 Frameshift 11/13 - 1
18-9275652-C-T c.5894C>T p.P1965L Missense 11/13 - 4
18-9275657-G-A c.5899G>A p.D1967N Missense 11/13 - 1
18-9275664-A-G c.5906A>G p.Q1969R Missense 11/13 - 1
18-9275703-G-GA c.5907+44dup - IntronicInsertion - 11/12 1
18-9275742-TAGAA-T c.5907+82_5907+85del - IntronicDeletion - 11/12 1
18-9275844-A-G c.5907+179A>G - IntronicSNV - 11/12 1
18-9276639-C-T c.5907+974C>T - IntronicSNV - 11/12 1
18-9276710-CA-C c.5907+1054del - IntronicDeletion - 11/12 1
18-9279524-T-C c.5908-23T>C - IntronicSNV - 11/12 1
18-9279548-C-G c.5909C>G p.S1970C Missense 12/13 - 1
18-9279550-G-A c.5911G>A p.D1971N Missense 12/13 - 1
18-9279553-G-A c.5914G>A p.D1972N Missense 12/13 - 1
18-9279560-A-C c.5921A>C p.K1974T Missense 12/13 - 2
18-9279564-T-G c.5925T>G p.T1975= Synonymous 12/13 - 2
18-9279566-C-T c.5927C>T p.S1976F Missense 12/13 - 3
18-9279572-G-A c.5933G>A p.R1978K Missense 12/13 - 1
18-9279577-C-T c.5938C>T p.R1980C Missense 12/13 - 2
18-9279578-G-A c.5939G>A p.R1980H Missense 12/13 - 2
18-9279583-A-G c.5944A>G p.N1982D Missense 12/13 - 1
18-9279588-A-G c.5949A>G p.A1983= Synonymous 12/13 - 2
18-9279596-T-G c.5957T>G p.F1986C Missense 12/13 - 1
18-9279602-C-A c.5963C>A p.S1988Y Missense 12/13 - 2
18-9279606-G-C c.5967G>C p.W1989C Missense 12/13 - 1
18-9279606-G-T c.5967G>T p.W1989C Missense 12/13 - 1
18-9279618-G-A c.5979G>A p.V1993= Synonymous 12/13 - 2
18-9279618-G-C c.5979G>C p.V1993= Synonymous 12/13 - 2
18-9279618-G-T c.5979G>T p.V1993= Synonymous 12/13 - 2
18-9279627-A-C c.5988A>C p.K1996N Missense 12/13 - 1
18-9279632-A-T c.5993A>T p.D1998V Missense 12/13 - 1
18-9279636-A-G c.5997A>G p.K1999= Synonymous 12/13 - 1
18-9279633-CAAATT-C c.5998_6002del p.L2000Dfs*10 SpliceDonorDeletion 12/13 - 1
18-9279644-T-A c.6003+2T>A - IntronicSNV - 12/12 1
18-9279663-G-T c.6003+21G>T - IntronicSNV - 12/12 1
18-9280944-T-G c.6009T>G p.C2003W Missense 13/13 - 2
18-9280945-C-T c.6010C>T p.L2004F Missense 13/13 - 1
18-9280953-G-A c.6018G>A p.M2006I Missense 13/13 - 6
18-9280953-G-C c.6018G>C p.M2006I Missense 13/13 - 4
18-9280953-G-T c.6018G>T p.M2006I Missense 13/13 - 4
18-9280958-A-C c.6023A>C p.Q2008P Missense 13/13 - 1
18-9280960-C-T c.6025C>T p.Q2009* Nonsense 13/13 - 1
18-9280962-A-C c.6027A>C p.Q2009H Missense 13/13 - 6
18-9280962-A-T c.6027A>T p.Q2009H Missense 13/13 - 4
18-9280967-A-C c.6032A>C p.E2011A Missense 13/13 - 2
18-9280968-A-T c.6033A>T p.E2011D Missense 13/13 - 1
18-9280972-G-A c.6037G>A p.A2013T Missense 13/13 - 1
18-9280973-C-T c.6038C>T p.A2013V Missense 13/13 - 2
18-9280974-G-A c.6039G>A p.A2013= Synonymous 13/13 - 2
18-9280974-G-C c.6039G>C p.A2013= Synonymous 13/13 - 1
18-9280974-G-T c.6039G>T p.A2013= Synonymous 13/13 - 1
18-9280984-G-A c.6049G>A p.A2017T Missense 13/13 - 1
18-9280984-G-T c.6049G>T p.A2017S Missense 13/13 - 1
18-9280985-C-CT c.6051dup p.V2018Cfs*14 Frameshift 13/13 - 1
18-9280990-C-A c.6055C>A p.Q2019K Missense 13/13 - 1
18-9280990-C-T c.6055C>T p.Q2019* Nonsense 13/13 - 1
18-9280991-A-T c.6056A>T p.Q2019L Missense 13/13 - 1
18-9280994-G-A c.6059G>A p.R2020K Missense 13/13 - 1
18-9280999-G-T c.6064G>T p.E2022* Nonsense 13/13 - 1
18-9281003-G-T c.6068G>T p.W2023L Missense 13/13 - 1
18-9281010-C-T c.6075C>T p.L2025= Synonymous 13/13 - 1
18-9281014-C-T c.6079C>T p.L2027F Missense 13/13 - 2
18-9281015-T-C c.6080T>C p.L2027P Missense 13/13 - 1
18-9281017-C-T c.6082C>T p.Q2028* Nonsense 13/13 - 1
18-9281020-G-C c.6085G>C p.E2029Q Missense 13/13 - 1
18-9281026-G-T c.6091G>T p.D2031Y Missense 13/13 - 1
18-9281029-C-T c.6094C>T p.P2032S Missense 13/13 - 3
18-9281032-G-A c.6097G>A p.A2033T Missense 13/13 - 1
18-9281049-C-A c.6114C>A p.I2038= Synonymous 13/13 - 1
18-9281049-C-T c.6114C>T p.I2038= Synonymous 13/13 - 1
18-9281053-A-T c.6118A>T p.I2040F Missense 13/13 - 1
18-9281058-C-T c.6123C>T p.Y2041= Synonymous 13/13 - 1
18-9281059-G-A c.6124G>A p.E2042K Missense 13/13 - 4
18-9281064-C-T c.6129C>T p.I2043= Synonymous 13/13 - 2
18-9281065-C-T c.6130C>T p.Q2044* Nonsense 13/13 - 5
18-9281068-G-T c.6133G>T p.E2045* Nonsense 13/13 - 1
18-9281074-T-C c.6139T>C p.Y2047H Missense 13/13 - 3
18-9281080-C-T c.6145C>T p.P2049S Missense 13/13 - 1
18-9281083-C-T c.6148C>T p.L2050F Missense 13/13 - 6
18-9281086-G-A c.6151G>A p.V2051I Missense 13/13 - 5
18-9281087-T-C c.6152T>C p.V2051A Missense 13/13 - 1
18-9281097-C-T c.6162C>T p.N2054= Synonymous 13/13 - 1
18-9281098-G-A c.6163G>A p.D2055N Missense 13/13 - 1
18-9281100-C-T c.6165C>T p.D2055= Synonymous 13/13 - 1
18-9281101-G-A c.6166G>A p.D2056N Missense 13/13 - 2
18-9281102-A-G c.6167A>G p.D2056G Missense 13/13 - 1
18-9281107-G-A c.6172G>A p.E2058K Missense 13/13 - 1
18-9281116-C-G c.6181C>G p.P2061A Missense 13/13 - 2
18-9281117-C-A c.6182C>A p.P2061H Missense 13/13 - 1
18-9281122-T-A c.6187T>A p.*2063Kext*13 Missense 13/13 - 1
18-9281323-T-A c.*199T>A - 3-UTRSNV 13/13 - 3
18-9281567-T-C c.*443T>C - 3-UTRSNV 13/13 - 3
18-9284602-T-C c.*3478T>C - 3-UTRSNV 13/13 - 2
18-9284827-A-G c.*3703A>G - 3-UTRSNV 13/13 - 1
18-9285824-T-C c.*4700T>C - 3-UTRSNV 13/13 - 1
18-9285892-T-G c.*4768T>G - 3-UTRSNV 13/13 - 1