COL4A5 collagen type IV alpha 5 chain

Annotation transcript: NM_033380.3

630 unique variant annotations were identified in 300 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
X-107683356-A-C c.1A>C p.M1? Missense 1/53 - 1
X-107683361-A-G c.6A>G p.K2= Synonymous 1/53 - 1
X-107683368-G-T c.13G>T p.G5* Nonsense 1/53 - 1
X-107683381-C-A c.26C>A p.A9D Missense 1/53 - 1
X-107683385-C-A c.30C>A p.A10= Synonymous 1/53 - 1
X-107683385-C-G c.30C>G p.A10= Synonymous 1/53 - 1
X-107683385-C-T c.30C>T p.A10= Synonymous 1/53 - 1
X-107683388-C-A c.33C>A p.G11= Synonymous 1/53 - 1
X-107683388-C-G c.33C>G p.G11= Synonymous 1/53 - 1
X-107683388-C-T c.33C>T p.G11= Synonymous 1/53 - 1
X-107683392-T-C c.37T>C p.F13L Missense 1/53 - 1
X-107683392-TT-AA c.37_38inv p.F13N Missense 1/53 - 1
X-107683394-C-A c.39C>A p.F13L Missense 1/53 - 1
X-107683394-C-G c.39C>G p.F13L Missense 1/53 - 1
X-107683402-C-A c.47C>A p.A16D Missense 1/53 - 1
X-107683405-CT-C c.50del p.L17Rfs*27 Frameshift 1/53 - 1
X-107683417-G-A c.62G>A p.G21E Missense 1/53 - 1
X-107683418-G-A c.63G>A p.G21= Synonymous 1/53 - 1
X-107683418-G-C c.63G>C p.G21= Synonymous 1/53 - 1
X-107683418-G-T c.63G>T p.G21= Synonymous 1/53 - 1
X-107683425-G-T c.70G>T p.A24S Missense 1/53 - 1
X-107683426-CA-AC c.71_72delinsAC p.A24D Missense 1/53 - 1
X-107683428-GAG-TTT c.73_75delinsTTT p.E25F Missense 1/53 - 1
X-107683430-G-A c.75G>A p.E25= Synonymous 1/53 - 1
X-107683434-GCG-TGT c.79_81delinsTGT p.A27C Missense 1/53 - 1
X-107683435-C-T c.80C>T p.A27V Missense 1/53 - 1
X-107683436-G-A c.81G>A p.A27= Synonymous 1/53 - 3
X-107683436-G-C c.81G>C p.A27= Synonymous 1/53 - 2
X-107683436-G-T c.81G>T p.A27= Synonymous 1/53 - 2
X-107690996-A-C c.81+7560A>C - IntronicSNV - 1/52 1
X-107692305-C-G c.81+8869C>G - IntronicSNV - 1/52 1
X-107692305-C-T c.81+8869C>T - IntronicSNV - 1/52 1
X-107695404-A-G c.81+11968A>G - IntronicSNV - 1/52 1
X-107706848-C-A c.81+23412C>A - IntronicSNV - 1/52 1
X-107782977-CT-AG c.83_84inv p.A28E Missense 2/53 - 1
X-107782979-T-C c.85T>C p.C29R Missense 2/53 - 1
X-107782979-TG-AC c.85_86delinsAC p.C29T Missense 2/53 - 1
X-107782981-C-A c.87C>A p.C29* Nonsense 2/53 - 2
X-107782981-C-G c.87C>G p.C29W Missense 2/53 - 1
X-107782981-C-T c.87C>T p.C29= Synonymous 2/53 - 1
X-107782983-A-G c.89A>G p.Y30C Missense 2/53 - 1
X-107782984-T-A c.90T>A p.Y30* Nonsense 2/53 - 2
X-107782984-T-G c.90T>G p.Y30* Nonsense 2/53 - 2
X-107782986-G-C c.92G>C p.G31A Missense 2/53 - 1
X-107783000-TC-AG c.106_107delinsAG p.S36R Missense 2/53 - 1
X-107783001-C-A c.107C>A p.S36* Nonsense 2/53 - 1
X-107783001-CA-GG c.107_108delinsGG p.S36W Missense 2/53 - 1
X-107783001-CA-GT c.107_108delinsGT p.S36C Missense 2/53 - 1
X-107783001-C-G c.107C>G p.S36* Nonsense 2/53 - 2
X-107783012-TG-GC c.118_119delinsGC p.C40A Missense 2/53 - 1
X-107783036-G-A c.141+1G>A - IntronicSNV - 2/52 1
X-107802294-G-A c.142G>A p.G48R Missense 3/53 - 1
X-107802306-GTTT-G c.154_156del p.F52del InFrameDeletion 3/53 - 2
X-107802318-G-A c.166G>A p.E56K Missense 3/53 - 1
X-107802339-G-T c.187G>T p.G63* Nonsense 3/53 - 1
X-107802342-T-C c.190T>C p.F64L Missense 3/53 - 1
X-107802344-T-A c.192T>A p.F64L Missense 3/53 - 1
X-107802344-T-G c.192T>G p.F64L Missense 3/53 - 1
X-107802376-G-T c.224G>T p.G75V Missense 3/53 - 1
X-107802382-A-C c.230A>C p.K77T Missense 3/53 - 1
X-107802385-T-C c.231+2T>C - IntronicSNV - 3/52 1
X-107807125-T-C c.245T>C p.I82T Missense 4/53 - 1
X-107811860-G-C c.278G>C p.G93A Missense 5/53 - 2
X-107811869-G-C c.287G>C p.G96A Missense 5/53 - 1
X-107811883-C-T c.301C>T p.P101S Missense 5/53 - 1
X-107811895-G-A c.313G>A p.G105S Missense 5/53 - 1
X-107812007-G-A c.340G>A p.G114R Missense 6/53 - 1
X-107812010-GC-G c.347del p.P116Qfs*39 Frameshift 6/53 - 1
X-107812015-A-ATCCGG c.348_349insTCCGG p.G117Sfs*40 Frameshift 6/53 - 1
X-107812014-CAGGACCTCA-C c.351_359del p.P118_G120del InFrameDeletion 6/53 - 1
X-107812025-G-A c.358G>A p.G120S Missense 6/53 - 1
X-107812034-GGA-AGC c.367_369delinsAGC p.G123S Missense 6/53 - 1
X-107812033-CG-C c.368del p.G123Dfs*32 Frameshift 6/53 - 1
X-107812035-G-A c.368G>A p.G123E Missense 6/53 - 1
X-107812052-G-A c.384+1G>A - IntronicSNV - 6/52 1
X-107814646-GAA-TAT c.388_390delinsTAT p.E130Y Missense 7/53 - 1
X-107814646-G-C c.388G>C p.E130Q Missense 7/53 - 1
X-107814646-G-T c.388G>T p.E130* Nonsense 7/53 - 1
X-107814653-G-A c.395G>A p.G132E Missense 7/53 - 1
X-107814670-G-A c.412G>A p.G138S Missense 7/53 - 1
X-107814679-GGTTTACA-G c.423_429del p.L142Vfs*11 Frameshift 7/53 - 1
X-107814688-G-A c.430G>A p.G144S Missense 7/53 - 1
X-107814701-G-A c.438+5G>A - IntronicSNV - 7/52 1
X-107815039-AG-A c.440del p.G147Dfs*8 Frameshift 8/53 - 1
X-107815042-G-C c.440G>C p.G147A Missense 8/53 - 1
X-107815043-A-AC c.446dup p.G150Wfs*8 Frameshift 8/53 - 1
X-107815043-AC-A c.446del p.P149Lfs*6 Frameshift 8/53 - 2
X-107815050-G-A c.448G>A p.G150R Missense 8/53 - 1
X-107815050-G-C c.448G>C p.G150R Missense 8/53 - 1
X-107815050-G-T c.448G>T p.G150W Missense 8/53 - 1
X-107816804-G-C c.466G>C p.G156R Missense 9/53 - 1
X-107816804-G-T c.466G>T p.G156C Missense 9/53 - 1
X-107816805-G-C c.467G>C p.G156A Missense 9/53 - 1
X-107816814-G-T c.476G>T p.G159V Missense 9/53 - 1
X-107816826-T-C c.488T>C p.M163T Missense 9/53 - 1
X-107816826-T-G c.488T>G p.M163R Missense 9/53 - 1
X-107816836-GC-G c.500del p.P167Qfs*36 Frameshift 9/53 - 2
X-107816838-C-A c.500C>A p.P167Q Missense 9/53 - 2
X-107816840-G-A c.502G>A p.G168R Missense 9/53 - 1
X-107816840-G-C c.502G>C p.G168R Missense 9/53 - 1
X-107816848-G-A c.510G>A p.K170= Synonymous 9/53 - 1
X-107816853-A-G c.515A>G p.N172S Missense 9/53 - 1
X-107816858-G-C c.520G>C p.G174R Missense 9/53 - 2
X-107816863-AT-A c.525del p.P176Qfs*27 Frameshift 9/53 - 1
X-107816882-CAA-TGT c.544_546delinsTGT p.Q182C Missense 9/53 - 1
X-107816882-C-T c.544C>T p.Q182* Nonsense 9/53 - 1
X-107816883-CAA-C c.545_546del p.Q182Rfs*33 SpliceDonorDeletion 9/53 - 1
X-107816886-T-C c.546+2T>C - IntronicSNV - 9/52 1
X-107816889-G-C c.546+5G>C - IntronicSNV - 9/52 1
X-107819141-G-T c.548G>T p.G183V Missense 10/53 - 1
X-107819166-A-AG c.576dup p.P193Afs*23 Frameshift 10/53 - 1
X-107819173-A-G c.580A>G p.I194V Missense 10/53 - 1
X-107819177-G-A c.584G>A p.G195D Missense 10/53 - 1
X-107819179-C-G c.586C>G p.P196A Missense 10/53 - 1
X-107821182-G-C c.610G>C p.G204R Missense 11/53 - 1
X-107821198-C-T c.626C>T p.P209L Missense 11/53 - 1
X-107821201-G-A c.629G>A p.G210E Missense 11/53 - 1
X-107821201-G-C c.629G>C p.G210A Missense 11/53 - 1
X-107821206-TCCA-T c.634_636del p.P212del InFrameDeletion 11/53 - 1
X-107821307-GGGGAATAT-G c.649_656del p.N217Lfs*9 Frameshift 12/53 - 1
X-107821317-G-T c.655G>T p.G219C Missense 12/53 - 1
X-107821326-T-C c.664T>C p.F222L Missense 12/53 - 1
X-107821328-C-A c.666C>A p.F222L Missense 12/53 - 1
X-107821328-C-G c.666C>G p.F222L Missense 12/53 - 1
X-107821327-T-G c.665T>G p.F222C Missense 12/53 - 3
X-107821332-G-A c.670G>A p.G224R Missense 12/53 - 1
X-107821342-G-A c.680G>A p.G227D Missense 12/53 - 1
X-107821344-G-T c.682G>T p.E228* Nonsense 12/53 - 1
X-107821347-A-T c.685A>T p.K229* Nonsense 12/53 - 1
X-107821350-G-A c.687+1G>A - IntronicSNV - 12/52 3
X-107821521-G-T c.688G>T p.G230C Missense 13/53 - 1
X-107821525-A-T c.692A>T p.E231V Missense 13/53 - 1
X-107821531-G-T c.698G>T p.G233V Missense 13/53 - 1
X-107821552-C-A c.719C>A p.P240Q Missense 13/53 - 1
X-107821570-A-T c.737A>T p.E246V Missense 13/53 - 1
X-107823778-C-T c.796C>T p.R266* Nonsense 14/53 - 4
X-107823794-C-T c.812C>T p.P271L Missense 14/53 - 1
X-107823818-T-C c.834+2T>C - IntronicSNV - 14/52 2
X-107823818-T-G c.834+2T>G - IntronicSNV - 14/52 1
X-107823821-G-A c.834+5G>A - IntronicSNV - 14/52 1
X-107823916-C-T c.839C>T p.P280L Missense 15/53 - 1
X-107823936-G-T c.859G>T p.E287* Nonsense 15/53 - 1
X-107823945-GA-TC c.868_869inv p.E290S Missense 15/53 - 1
X-107823946-A-C c.869A>C p.E290A Missense 15/53 - 1
X-107823951-G-C c.874G>C p.G292R Missense 15/53 - 1
X-107823952-G-T c.875G>T p.G292V Missense 15/53 - 1
X-107823953-A-C c.876A>C p.G292= Synonymous 15/53 - 2
X-107823953-A-G c.876A>G p.G292= Synonymous 15/53 - 2
X-107823953-A-T c.876A>T p.G292= Synonymous 15/53 - 3
X-107823954-G-A c.877G>A p.E293K Missense 15/53 - 1
X-107823960-G-A c.883G>A p.G295S Missense 15/53 - 1
X-107823961-G-A c.884G>A p.G295D Missense 15/53 - 1
X-107823962-CAA-C c.888_889del p.G298* Frameshift 15/53 - 1
X-107823968-A-T c.891A>T p.R297S Missense 15/53 - 1
X-107824213-G-C c.892G>C p.G298R Missense 16/53 - 1
X-107824219-C-T c.898C>T p.P300S Missense 16/53 - 1
X-107824220-C-T c.899C>T p.P300L Missense 16/53 - 1
X-107824232-G-A c.911G>A p.G304E Missense 16/53 - 1
X-107824234-G-T c.913G>T p.E305* Nonsense 16/53 - 1
X-107824240-G-A c.919G>A p.G307S Missense 16/53 - 1
X-107824244-A-C c.923A>C p.Q308P Missense 16/53 - 1
X-107824245-A-T c.924A>T p.Q308H Missense 16/53 - 1
X-107826112-AG-A c.938del p.G313Vfs*33 Frameshift 17/53 - 1
X-107826115-G-C c.938G>C p.G313A Missense 17/53 - 1
X-107826115-G-T c.938G>T p.G313V Missense 17/53 - 1
X-107826119-GC-G c.944del p.P315Lfs*31 Frameshift 17/53 - 1
X-107826124-G-A c.947G>A p.G316D Missense 17/53 - 1
X-107826132-G-C c.955G>C p.G319R Missense 17/53 - 1
X-107826137-C-A c.960C>A p.Y320* Nonsense 17/53 - 1
X-107826137-C-G c.960C>G p.Y320* Nonsense 17/53 - 1
X-107826150-G-A c.973G>A p.G325R Missense 17/53 - 2
X-107826150-G-C c.973G>C p.G325R Missense 17/53 - 2
X-107826150-GG-CA c.973_974delinsCA p.G325Q Missense 17/53 - 1
X-107826151-G-A c.974G>A p.G325E Missense 17/53 - 1
X-107826154-GGGAT-G c.980_983del p.D327Vfs*18 Frameshift 17/53 - 1
X-107826167-G-T c.990G>T p.K330N Missense 17/53 - 1
X-107827733-G-T c.1010G>T p.G337V Missense 18/53 - 1
X-107827741-G-C c.1018G>C p.G340R Missense 18/53 - 1
X-107829851-C-T c.1039C>T p.P347S Missense 19/53 - 1
X-107829857-C-T c.1045C>T p.P349S Missense 19/53 - 1
X-107829872-A-G c.1060A>G p.T354A Missense 19/53 - 1
X-107829873-C-T c.1061C>T p.T354I Missense 19/53 - 1
X-107829887-G-A c.1075G>A p.G359R Missense 19/53 - 1
X-107829888-G-GA c.1079dup p.N360Kfs*51 Frameshift 19/53 - 1
X-107829907-G-C c.1095G>C p.G365= Synonymous 19/53 - 2
X-107829914-G-A c.1102G>A p.G368R Missense 19/53 - 1
X-107829926-G-T c.1114G>T p.E372* Nonsense 19/53 - 1
X-107829929-C-T c.1117C>T p.R373* Nonsense 19/53 - 6
X-107829930-G-A c.1118G>A p.R373Q Missense 19/53 - 1
X-107829932-G-T c.1120G>T p.G374* Nonsense 19/53 - 1
X-107829933-G-T c.1121G>T p.G374V Missense 19/53 - 1
X-107829936-T-TCC c.1124_1125insCC p.P376Lfs*99 Frameshift 19/53 - 1
X-107829941-G-A c.1129G>A p.G377R Missense 19/53 - 1
X-107829941-GGA-AGC c.1129_1131delinsAGC p.G377S Missense 19/53 - 1
X-107829942-G-A c.1130G>A p.G377E Missense 19/53 - 1
X-107829947-C-T c.1135C>T p.Q379* Nonsense 19/53 - 1
X-107829962-CT-C c.1152del p.P385Lfs*89 Frameshift 19/53 - 1
X-107829977-G-A c.1165G>A p.G389R Missense 19/53 - 2
X-107829977-G-C c.1165G>C p.G389R Missense 19/53 - 1
X-107834288-G-A c.1166G>A p.G389E Missense 20/53 - 1
X-107834305-C-T c.1183C>T p.P395S Missense 20/53 - 1
X-107834308-C-T c.1186C>T p.P396S Missense 20/53 - 1
X-107834314-C-T c.1192C>T p.P398S Missense 20/53 - 1
X-107834330-G-T c.1208G>T p.G403V Missense 20/53 - 1
X-107834333-A-C c.1211A>C p.E404A Missense 20/53 - 1
X-107834332-G-GA c.1213dup p.R405Kfs*6 Frameshift 20/53 - 1
X-107834338-G-C c.1216G>C p.G406R Missense 20/53 - 1
X-107834338-GG-CC c.1216_1217inv p.G406P Missense 20/53 - 1
X-107834335-AG-A c.1217del p.G406Vfs*68 Frameshift 20/53 - 1
X-107834339-G-A c.1217G>A p.G406D Missense 20/53 - 1
X-107834339-G-T c.1217G>T p.G406V Missense 20/53 - 3
X-107834341-C-T c.1219C>T p.Q407* Nonsense 20/53 - 1
X-107834344-A-T c.1222A>T p.K408* Nonsense 20/53 - 1
X-107834348-G-A c.1226G>A p.G409D Missense 20/53 - 2
X-107834371-T-A c.1249T>A p.S417T Missense 20/53 - 1
X-107834371-TC-GG c.1249_1250delinsGG p.S417G Missense 20/53 - 1
X-107834371-T-G c.1249T>G p.S417A Missense 20/53 - 1
X-107834380-G-A c.1258G>A p.G420R Missense 20/53 - 1
X-107834391-GA-G c.1269del p.D425Tfs*49 Frameshift 20/53 - 1
X-107834398-G-A c.1276G>A p.G426R Missense 20/53 - 2
X-107834411-C-A c.1289C>A p.A430D Missense 20/53 - 1
X-107834411-C-T c.1289C>T p.A430V Missense 20/53 - 1
X-107834432-C-T c.1310C>T p.P437L Missense 20/53 - 1
X-107834441-C-T c.1319C>T p.A440V Missense 20/53 - 1
X-107834453-T-G c.1331T>G p.I444S Missense 20/53 - 3
X-107834454-TC-T c.1334del p.P445Lfs*29 Frameshift 20/53 - 1
X-107834458-CCT-TAA c.1336_1338delinsTAA p.P446* Nonsense 20/53 - 1
X-107834791-GTGATGAGATATGTGAACCAGGCCCTCCAGGCCCCCCAGGATCTCCAGGTGATAAAGGAC-G c.1342_1400del p.D448Pfs*9 Unclassified 21/53 - 1
X-107834798-GAT-G c.1350_1351del p.I450Mfs*2 Frameshift 21/53 - 1
X-107834802-T-C c.1351T>C p.C451R Missense 21/53 - 1
X-107834825-C-TT c.1374delinsTT p.P459Sfs*6 Frameshift 21/53 - 1
X-107834821-GC-G c.1376del p.P459Qfs*15 Frameshift 21/53 - 1
X-107834862-C-T c.1411C>T p.Q471* Nonsense 21/53 - 1
X-107834866-G-A c.1415G>A p.G472E Missense 21/53 - 1
X-107834867-AGT-A c.1418_1419del p.V473Efs*3 Frameshift 21/53 - 1
X-107834874-G-A c.1423G>A p.G475S Missense 21/53 - 1
X-107834875-G-T c.1423+1G>T - IntronicSNV - 21/52 2
X-107838789-C-G c.1474C>G p.P492A Missense 22/53 - 2
X-107838798-TCAACCTGGTTTGCCAGGTCTCCCAGGTCCTCCAG-T c.1483_1516del p.Q495Dfs*51 SpliceDonorDeletion 22/53 - 1
X-107838813-G-C c.1498G>C p.G500R Missense 22/53 - 1
X-107838822-G-C c.1507G>C p.G503R Missense 22/53 - 1
X-107840233-C-G c.1522C>G p.L508V Missense 23/53 - 1
X-107840236-G-A c.1525G>A p.G509S Missense 23/53 - 1
X-107840236-G-C c.1525G>C p.G509R Missense 23/53 - 2
X-107840243-C-A c.1532C>A p.P511H Missense 23/53 - 1
X-107840263-G-A c.1552G>A p.G518R Missense 23/53 - 1
X-107840276-C-A c.1565C>A p.A522E Missense 23/53 - 1
X-107840290-GGA-TGT c.1579_1581delinsTGT p.G527C Missense 23/53 - 1
X-107840434-A-G c.1587+136A>G - IntronicSNV - 23/52 1
X-107840434-A-T c.1587+136A>T - IntronicSNV - 23/52 1
X-107840615-A-C c.1596A>C p.P532= Synonymous 24/53 - 1
X-107840615-A-G c.1596A>G p.P532= Synonymous 24/53 - 1
X-107840615-A-T c.1596A>T p.P532= Synonymous 24/53 - 1
X-107840617-G-A c.1598G>A p.G533E Missense 24/53 - 1
X-107840618-A-C c.1599A>C p.G533= Synonymous 24/53 - 1
X-107840618-A-G c.1599A>G p.G533= Synonymous 24/53 - 1
X-107840618-A-T c.1599A>T p.G533= Synonymous 24/53 - 1
X-107840643-G-T c.1624G>T p.G542* Nonsense 24/53 - 4
X-107840653-G-A c.1634G>A p.G545D Missense 24/53 - 1
X-107840653-G-C c.1634G>C p.G545A Missense 24/53 - 1
X-107840653-G-T c.1634G>T p.G545V Missense 24/53 - 1
X-107840662-G-A c.1643G>A p.G548D Missense 24/53 - 1
X-107840700-G-A c.1681G>A p.G561R Missense 24/53 - 1
X-107840709-G-T c.1690G>T p.G564C Missense 24/53 - 1
X-107840710-G-A c.1691G>A p.G564D Missense 24/53 - 1
X-107840719-G-C c.1700G>C p.G567A Missense 24/53 - 1
X-107840727-G-A c.1708G>A p.G570R Missense 24/53 - 1
X-107840745-G-A c.1726G>A p.G576S Missense 24/53 - 1
X-107840757-C-T c.1738C>T p.Q580* Nonsense 24/53 - 1
X-107840778-C-T c.1759C>T p.P587S Missense 24/53 - 1
X-107840781-G-A c.1762G>A p.G588S Missense 24/53 - 1
X-107840785-C-A c.1766C>A p.P589Q Missense 24/53 - 1
X-107840788-A-C c.1769A>C p.K590T Missense 24/53 - 1
X-107840790-G-A c.1771G>A p.G591R Missense 24/53 - 1
X-107840790-G-T c.1771G>T p.G591* Nonsense 24/53 - 1
X-107841932-G-A c.1780G>A p.G594S Missense 25/53 - 1
X-107841932-G-C c.1780G>C p.G594R Missense 25/53 - 1
X-107841933-G-A c.1781G>A p.G594D Missense 25/53 - 3
X-107841936-G-A c.1784G>A p.G595E Missense 25/53 - 1
X-107841978-G-A c.1826G>A p.G609D Missense 25/53 - 1
X-107841986-G-A c.1834G>A p.G612S Missense 25/53 - 1
X-107841986-G-C c.1834G>C p.G612R Missense 25/53 - 1
X-107841987-G-A c.1835G>A p.G612D Missense 25/53 - 1
X-107841996-G-C c.1844G>C p.G615A Missense 25/53 - 1
X-107841994-AG-A c.1845del p.N616Ifs*2 Frameshift 25/53 - 1
X-107842004-AGGG-A c.1852_1854del p.G618del InFrameDeletion 25/53 - 1
X-107842013-G-T c.1861G>T p.G621C Missense 25/53 - 1
X-107842014-G-C c.1862G>C p.G621A Missense 25/53 - 1
X-107842023-G-A c.1871G>A p.G624D Missense 25/53 - 26
X-107842023-G-T c.1871G>T p.G624V Missense 25/53 - 1
X-107842028-G-A c.1876G>A p.G626S Missense 25/53 - 1
X-107842031-C-T c.1879C>T p.P627S Missense 25/53 - 1
X-107842034-C-A c.1882C>A p.P628T Missense 25/53 - 1
X-107842035-C-T c.1883C>T p.P628L Missense 25/53 - 6
X-107842046-G-C c.1894G>C p.G632R Missense 25/53 - 1
X-107842049-G-A c.1897G>A p.E633K Missense 25/53 - 1
X-107842056-G-A c.1904G>A p.G635D Missense 25/53 - 1
X-107842064-G-A c.1912G>A p.G638S Missense 25/53 - 2
X-107842065-G-A c.1913G>A p.G638D Missense 25/53 - 1
X-107842083-G-A c.1931G>A p.G644D Missense 25/53 - 3
X-107842083-G-T c.1931G>T p.G644V Missense 25/53 - 1
X-107842085-C-T c.1933C>T p.Q645* Nonsense 25/53 - 1
X-107842091-G-A c.1939G>A p.G647R Missense 25/53 - 1
X-107842091-G-C c.1939G>C p.G647R Missense 25/53 - 1
X-107842092-G-T c.1940G>T p.G647V Missense 25/53 - 1
X-107842097-C-T c.1945C>T p.P649S Missense 25/53 - 1
X-107842100-G-A c.1948G>A p.G650S Missense 25/53 - 1
X-107842100-G-C c.1948G>C p.G650R Missense 25/53 - 1
X-107842100-G-T c.1948G>T p.G650C Missense 25/53 - 1
X-107842101-G-A c.1948+1G>A - IntronicSNV - 25/52 1
X-107842101-G-T c.1948+1G>T - IntronicSNV - 25/52 1
X-107844631-G-T c.1957G>T p.G653W Missense 26/53 - 1
X-107844634-G-T c.1960G>T p.D654Y Missense 26/53 - 1
X-107844666-G-A c.1992G>A p.K664= Synonymous 26/53 - 2
X-107844666-G-T c.1992G>T p.K664N Missense 26/53 - 2
X-107844679-G-A c.2005G>A p.G669S Missense 26/53 - 1
X-107844680-G-C c.2006G>C p.G669A Missense 26/53 - 3
X-107844689-G-A c.2015G>A p.G672D Missense 26/53 - 1
X-107844698-G-A c.2024G>A p.G675D Missense 26/53 - 1
X-107844706-G-T c.2032G>T p.G678C Missense 26/53 - 1
X-107845124-G-T c.2051G>T p.G684V Missense 27/53 - 1
X-107845128-T-C c.2055T>C p.L685= Synonymous 27/53 - 1
X-107845129-TCCAGGGCA-T c.2056_2063del p.P686Tfs*9 Frameshift 27/53 - 1
X-107845128-TC-T c.2057del p.P686Qfs*50 Frameshift 27/53 - 2
X-107845137-A-C c.2064A>C p.Q688H Missense 27/53 - 1
X-107845137-A-T c.2064A>T p.Q688H Missense 27/53 - 1
X-107845150-G-A c.2077G>A p.G693R Missense 27/53 - 1
X-107845151-G-T c.2078G>T p.G693V Missense 27/53 - 1
X-107845153-GA-G c.2080del p.I694Yfs*42 Frameshift 27/53 - 1
X-107845159-G-C c.2086G>C p.G696R Missense 27/53 - 1
X-107845160-G-A c.2087G>A p.G696D Missense 27/53 - 1
X-107845181-T-C c.2108T>C p.I703T Missense 27/53 - 1
X-107845187-G-A c.2114G>A p.G705E Missense 27/53 - 1
X-107845221-T-A c.2146+2T>A - IntronicSNV - 27/52 1
X-107846202-G-A c.2155G>A p.G719R Missense 28/53 - 1
X-107846202-G-C c.2155G>C p.G719R Missense 28/53 - 1
X-107846211-GGA-AGC c.2164_2166delinsAGC p.G722S Missense 28/53 - 1
X-107846228-TG-T c.2184del p.T729Hfs*7 Frameshift 28/53 - 1
X-107846231-G-T c.2184G>T p.G728= Synonymous 28/53 - 1
X-107846262-C-A c.2215C>A p.P739T Missense 28/53 - 1
X-107846262-C-G c.2215C>G p.P739A Missense 28/53 - 2
X-107846262-C-T c.2215C>T p.P739S Missense 28/53 - 2
X-107846265-G-A c.2218G>A p.G740R Missense 28/53 - 1
X-107846265-G-C c.2218G>C p.G740R Missense 28/53 - 1
X-107846284-G-A c.2237G>A p.G746E Missense 28/53 - 1
X-107846291-G-T c.2244G>T p.K748N Missense 28/53 - 1
X-107849932-A-G c.2245-40A>G - IntronicSNV - 28/52 1
X-107849982-G-A c.2255G>A p.G752E Missense 29/53 - 1
X-107849982-G-T c.2255G>T p.G752V Missense 29/53 - 1
X-107849989-A-G c.2262A>G p.A754= Synonymous 29/53 - 1
X-107849991-T-A c.2264T>A p.L755* Nonsense 29/53 - 2
X-107849991-T-G c.2264T>G p.L755* Nonsense 29/53 - 2
X-107850002-C-A c.2275C>A p.P759T Missense 29/53 - 1
X-107850014-G-A c.2287G>A p.G763R Missense 29/53 - 1
X-107850015-G-A c.2288G>A p.G763E Missense 29/53 - 3
X-107850033-G-T c.2306G>T p.G769V Missense 29/53 - 1
X-107850059-G-A c.2332G>A p.G778S Missense 29/53 - 1
X-107850059-G-C c.2332G>C p.G778R Missense 29/53 - 1
X-107850076-G-A c.2349G>A p.P783= Synonymous 29/53 - 2
X-107850077-G-C c.2350G>C p.G784R Missense 29/53 - 1
X-107850085-A-G c.2358A>G p.P786= Synonymous 29/53 - 1
X-107850086-G-A c.2359G>A p.G787R Missense 29/53 - 1
X-107850091-CACTGGCTTAGATGGGCTCCCTGG-C c.2367_2389del p.G790Kfs*3 Frameshift 29/53 - 1
X-107850092-ACTGGCTTAGATGGGCTCC-A c.2370_2387del p.L791_G796del InFrameDeletion 29/53 - 1
X-107850122-G-A c.2395G>A p.G799S Missense 29/53 - 1
X-107850123-G-A c.2395+1G>A - IntronicSNV - 29/52 1
X-107850125-A-G c.2395+3A>G - IntronicSNV - 29/52 1
X-107851397-C-G c.2395+1275C>G - IntronicSNV - 29/52 1
X-107851414-G-T c.2395+1292G>T - IntronicSNV - 29/52 1
X-107858141-G-A c.2396G>A p.G799D Missense 30/53 - 2
X-107858150-G-T c.2405G>T p.G802V Missense 30/53 - 1
X-107858158-G-A c.2413G>A p.G805R Missense 30/53 - 1
X-107858159-G-T c.2414G>T p.G805V Missense 30/53 - 1
X-107858161-C-T c.2416C>T p.Q806* Nonsense 30/53 - 1
X-107858165-C-G c.2420C>G p.P807R Missense 30/53 - 1
X-107858167-G-A c.2422G>A p.G808R Missense 30/53 - 1
X-107858167-G-C c.2422G>C p.G808R Missense 30/53 - 1
X-107858168-GACCA-G c.2425_2428del p.P809Wfs*9 Frameshift 30/53 - 1
X-107858188-C-T c.2443C>T p.L815= Synonymous 30/53 - 1
X-107858210-G-A c.2465G>A p.G822E Missense 30/53 - 1
X-107858216-C-CA c.2472dup p.G825Rfs*30 Frameshift 30/53 - 1
X-107858218-G-A c.2473G>A p.G825R Missense 30/53 - 1
X-107858218-G-T c.2473G>T p.G825* Nonsense 30/53 - 1
X-107858208-GGGACCACCA-G c.2475_2483del p.P826_G828del InFrameDeletion 30/53 - 1
X-107858220-AC-A c.2477del p.P826Hfs*8 Frameshift 30/53 - 1
X-107858227-G-A c.2482G>A p.G828R Missense 30/53 - 1
X-107858227-G-C c.2482G>C p.G828R Missense 30/53 - 1
X-107858254-G-A c.2509G>A p.G837S Missense 30/53 - 3
X-107863499-A-C c.2520A>C p.G840= Synonymous 31/53 - 1
X-107863499-A-G c.2520A>G p.G840= Synonymous 31/53 - 1
X-107863499-A-T c.2520A>T p.G840= Synonymous 31/53 - 1
X-107863525-G-A c.2546G>A p.G849E Missense 31/53 - 1
X-107863576-G-A c.2597G>A p.G866E Missense 31/53 - 1
X-107863578-A-AT c.2600dup p.G869Rfs*29 Frameshift 31/53 - 1
X-107863584-G-A c.2605G>A p.G869R Missense 31/53 - 10
X-107863584-G-C c.2605G>C p.G869R Missense 31/53 - 3
X-107863595-T-A c.2616T>A p.G872= Synonymous 31/53 - 1
X-107863595-T-C c.2616T>C p.G872= Synonymous 31/53 - 1
X-107863595-T-G c.2616T>G p.G872= Synonymous 31/53 - 1
X-107863604-GA-G c.2625del p.P876Lfs*25 Frameshift 31/53 - 1
X-107863612-G-A c.2633G>A p.G878E Missense 31/53 - 1
X-107863620-G-A c.2641G>A p.G881R Missense 31/53 - 1
X-107863637-AGGT-A c.2660_2662del p.G887del InFrameDeletion 31/53 - 1
X-107863641-G-T c.2662G>T p.A888S Missense 31/53 - 2
X-107863656-G-A c.2677G>A p.G893S Missense 31/53 - 1
X-107863656-G-C c.2677G>C p.G893R Missense 31/53 - 1
X-107863656-G-T c.2677G>T p.G893C Missense 31/53 - 1
X-107865033-G-T c.2678G>T p.G893V Missense 32/53 - 1
X-107865047-A-G c.2692A>G p.M898V Missense 32/53 - 1
X-107865069-G-A c.2714G>A p.G905D Missense 32/53 - 2
X-107865077-G-A c.2722G>A p.G908R Missense 32/53 - 2
X-107865077-G-C c.2722G>C p.G908R Missense 32/53 - 1
X-107865078-G-A c.2723G>A p.G908E Missense 32/53 - 1
X-107865086-G-A c.2731G>A p.G911R Missense 32/53 - 1
X-107865087-G-A c.2732G>A p.G911E Missense 32/53 - 1
X-107865096-G-A c.2741G>A p.G914D Missense 32/53 - 1
X-107865101-A-G c.2746A>G p.S916G Missense 32/53 - 1
X-107865104-G-T c.2749G>T p.G917C Missense 32/53 - 1
X-107865120-A-T c.2765A>T p.K922I Missense 32/53 - 1
X-107865122-G-C c.2767G>C p.G923R Missense 32/53 - 2
X-107865161-G-A c.2767+39G>A - IntronicSNV - 32/52 1
X-107865895-A-G c.2768-11A>G - IntronicSNV - 32/52 1
X-107865914-G-A c.2776G>A p.G926S Missense 33/53 - 1
X-107865913-TG-T c.2777del p.G926Afs*70 Frameshift 33/53 - 1
X-107865915-G-T c.2777G>T p.G926V Missense 33/53 - 2
X-107865920-C-T c.2782C>T p.Q928* Nonsense 33/53 - 2
X-107865926-C-T c.2788C>T p.Q930* Nonsense 33/53 - 1
X-107865935-C-T c.2797C>T p.L933F Missense 33/53 - 2
X-107865942-G-A c.2804G>A p.G935D Missense 33/53 - 2
X-107865942-G-T c.2804G>T p.G935V Missense 33/53 - 1
X-107865959-G-T c.2821G>T p.G941C Missense 33/53 - 1
X-107865960-G-A c.2822G>A p.G941D Missense 33/53 - 1
X-107865974-C-T c.2836C>T p.P946S Missense 33/53 - 1
X-107865996-G-T c.2858G>T p.G953V Missense 33/53 - 12
X-107866013-C-G c.2875C>G p.L959V Missense 33/53 - 1
X-107866028-G-T c.2890G>T p.G964* Nonsense 33/53 - 1
X-107866040-GA-G c.2904del p.E968Dfs*28 Frameshift 33/53 - 1
X-107866048-C-A c.2910C>A p.G970= Synonymous 33/53 - 1
X-107866048-C-G c.2910C>G p.G970= Synonymous 33/53 - 1
X-107866048-C-T c.2910C>T p.G970= Synonymous 33/53 - 1
X-107867466-G-A c.2918G>A p.G973D Missense 34/53 - 2
X-107867511-G-A c.2963G>A p.G988E Missense 34/53 - 1
X-107867506-GCCTGGAGACCCAGGGCAA-G c.2965_2982del p.D989_G994del InFrameDeletion 34/53 - 1
X-107867527-TG-T c.2981del p.G994Dfs*2 Frameshift 34/53 - 1
X-107867547-G-T c.2999G>T p.G1000V Missense 34/53 - 7
X-107868935-G-A c.3017G>A p.G1006D Missense 35/53 - 1
X-107868935-G-T c.3017G>T p.G1006V Missense 35/53 - 2
X-107868947-A-G c.3029A>G p.N1010S Missense 35/53 - 2
X-107868953-G-A c.3035G>A p.G1012D Missense 35/53 - 1
X-107868964-C-T c.3046C>T p.Q1016* Nonsense 35/53 - 1
X-107868988-G-A c.3070G>A p.G1024R Missense 35/53 - 1
X-107868989-G-A c.3071G>A p.G1024E Missense 35/53 - 2
X-107868998-G-T c.3080G>T p.G1027V Missense 35/53 - 1
X-107869006-G-A c.3088G>A p.G1030S Missense 35/53 - 5
X-107869009-GAT-G c.3094_3095del p.M1032Gfs*35 Frameshift 35/53 - 1
X-107869015-G-C c.3097G>C p.G1033R Missense 35/53 - 2
X-107869024-G-A c.3106G>A p.G1036R Missense 35/53 - 1
X-107869025-G-A c.3106+1G>A - IntronicSNV - 35/52 1
X-107869457-G-GC c.3124_3125insC p.G1042Afs*26 Frameshift 36/53 - 1
X-107869487-C-T c.3154C>T p.Q1052* Nonsense 36/53 - 2
X-107869503-G-A c.3170G>A p.G1057E Missense 36/53 - 1
X-107869511-G-T c.3178G>T p.G1060* Nonsense 36/53 - 2
X-107869512-G-A c.3179G>A p.G1060E Missense 36/53 - 1
X-107869514-C-T c.3181C>T p.Q1061* Nonsense 36/53 - 1
X-107869534-TC-T c.3203del p.P1068Lfs*84 Frameshift 36/53 - 1
X-107869545-C-A c.3212C>A p.S1071* Nonsense 36/53 - 1
X-107869545-C-G c.3212C>G p.S1071* Nonsense 36/53 - 1
X-107869688-T-G c.3246+109T>G - IntronicSNV - 36/52 1
X-107898565-A-C c.3251A>C p.E1084A Missense 37/53 - 1
X-107898580-G-A c.3266G>A p.G1089E Missense 37/53 - 1
X-107898582-T-C c.3268T>C p.Y1090H Missense 37/53 - 1
X-107898584-C-A c.3270C>A p.Y1090* Nonsense 37/53 - 1
X-107898587-AG-A c.3276del p.N1093Tfs*59 Frameshift 37/53 - 1
X-107898594-C-T c.3280C>T p.P1094S Missense 37/53 - 1
X-107898603-A-T c.3289A>T p.K1097* Nonsense 37/53 - 2
X-107898605-AG-A c.3293del p.G1098Vfs*54 Frameshift 37/53 - 1
X-107898607-G-A c.3293G>A p.G1098D Missense 37/53 - 1
X-107898607-GT-G c.3295del p.S1099Lfs*53 Frameshift 37/53 - 1
X-107898619-ATCCTGGTT-A c.3307_3314del p.P1103Afs*31 Frameshift 37/53 - 1
X-107898624-G-T c.3310G>T p.G1104C Missense 37/53 - 1
X-107898633-G-A c.3319G>A p.G1107R Missense 37/53 - 3
X-107898633-G-C c.3319G>C p.G1107R Missense 37/53 - 1
X-107898637-T-TACCAGCAA c.3328_3329insCAAACCAG p.G1110Afs*45 Frameshift 37/53 - 1
X-107898641-AG-A c.3329del p.G1110Efs*42 Frameshift 37/53 - 1
X-107898670-G-C c.3356G>C p.G1119A Missense 37/53 - 1
X-107898687-G-A c.3373G>A p.G1125R Missense 37/53 - 1
X-107908746-G-A c.3383G>A p.G1128D Missense 38/53 - 1
X-107908781-G-C c.3418G>C p.G1140R Missense 38/53 - 1
X-107908782-G-T c.3419G>T p.G1140V Missense 38/53 - 1
X-107908790-G-A c.3427G>A p.G1143S Missense 38/53 - 4
X-107908791-G-A c.3428G>A p.G1143D Missense 38/53 - 1
X-107908791-G-T c.3428G>T p.G1143V Missense 38/53 - 1
X-107908800-G-A c.3437G>A p.G1146E Missense 38/53 - 1
X-107908809-G-T c.3446G>T p.G1149V Missense 38/53 - 2
X-107909750-C-A c.3479C>A p.P1160Q Missense 39/53 - 1
X-107909753-G-A c.3482G>A p.G1161E Missense 39/53 - 2
X-107909770-G-A c.3499G>A p.G1167S Missense 39/53 - 1
X-107909779-G-A c.3508G>A p.G1170S Missense 39/53 - 6
X-107909779-G-C c.3508G>C p.G1170R Missense 39/53 - 1
X-107909780-G-T c.3509G>T p.G1170V Missense 39/53 - 1
X-107909784-A-G c.3513A>G p.Q1171= Synonymous 39/53 - 1
X-107909809-C-T c.3538C>T p.Q1180* Nonsense 39/53 - 1
X-107909810-A-ACCGT c.3539_3540insCCGT p.Q1180Hfs*5 Frameshift 39/53 - 1
X-107910380-A-G c.3571A>G p.N1191D Missense 40/53 - 1
X-107910414-G-A c.3604+1G>A - IntronicSNV - 40/52 1
X-107911558-G-T c.3614G>T p.G1205V Missense 41/53 - 1
X-107911558-GT-AG c.3614_3615delinsAG p.G1205E Missense 41/53 - 1
X-107911571-A-G c.3627A>G p.L1209= Synonymous 41/53 - 1
X-107911603-G-A c.3659G>A p.G1220D Missense 41/53 - 2
X-107911603-G-T c.3659G>T p.G1220V Missense 41/53 - 1
X-107911605-C-A c.3661C>A p.P1221T Missense 41/53 - 1
X-107911629-G-A c.3685G>A p.G1229S Missense 41/53 - 1
X-107911629-G-T c.3685G>T p.G1229C Missense 41/53 - 1
X-107911639-G-A c.3695G>A p.G1232D Missense 41/53 - 1
X-107911639-G-C c.3695G>C p.G1232A Missense 41/53 - 1
X-107911644-C-T c.3700C>T p.Q1234* Nonsense 41/53 - 4
X-107911648-G-A c.3704G>A p.G1235D Missense 41/53 - 1
X-107911648-G-C c.3704G>C p.G1235A Missense 41/53 - 1
X-107911657-G-A c.3713G>A p.G1238D Missense 41/53 - 1
X-107911675-G-A c.3731G>A p.G1244D Missense 41/53 - 1
X-107911689-G-T c.3745G>T p.G1249* Nonsense 41/53 - 1
X-107911688-AG-A c.3746del p.G1249Dfs*56 Frameshift 41/53 - 1
X-107911710-C-T c.3766C>T p.P1256S Missense 41/53 - 1
X-107911725-G-A c.3781G>A p.G1261R Missense 41/53 - 1
X-107911734-G-A c.3790G>A p.G1264S Missense 41/53 - 3
X-107911734-G-C c.3790G>C p.G1264R Missense 41/53 - 1
X-107913458-G-A c.3791G>A p.G1264D Missense 42/53 - 1
X-107920750-C-A c.3829C>A p.P1277T Missense 44/53 - 1
X-107920804-C-T c.3883C>T p.Q1295* Nonsense 44/53 - 1
X-107920825-C-T c.3904C>T p.P1302S Missense 44/53 - 1
X-107920856-G-C c.3935G>C p.G1312A Missense 44/53 - 1
X-107923924-C-T c.3958C>T p.P1320S Missense 45/53 - 1
X-107923936-GGA-AGC c.3970_3972delinsAGC p.G1324S Missense 45/53 - 1
X-107923937-G-C c.3971G>C p.G1324A Missense 45/53 - 1
X-107923946-G-T c.3980G>T p.G1327V Missense 45/53 - 1
X-107923951-C-T c.3985C>T p.P1329S Missense 45/53 - 1
X-107923956-GTCTCCCTGGTGTTCCAGGATTCCCAGGTATTTGAAGGGATTTTTGTGGTTTCCCTTTAT-G c.3990_4015+33del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 45/53 45/52 1
X-107923963-G-A c.3997G>A p.G1333S Missense 45/53 - 1
X-107923969-C-A c.4003C>A p.P1335T Missense 45/53 - 1
X-107923972-G-T c.4006G>T p.G1336* Nonsense 45/53 - 1
X-107924123-G-A c.4024G>A p.G1342R Missense 46/53 - 1
X-107924123-G-C c.4024G>C p.G1342R Missense 46/53 - 1
X-107924123-G-T c.4024G>T p.G1342* Nonsense 46/53 - 1
X-107924127-C-T c.4028C>T p.P1343L Missense 46/53 - 1
X-107924133-G-A c.4034G>A p.G1345E Missense 46/53 - 1
X-107924133-G-T c.4034G>T p.G1345V Missense 46/53 - 1
X-107924141-G-A c.4042G>A p.G1348R Missense 46/53 - 1
X-107924141-G-C c.4042G>C p.G1348R Missense 46/53 - 1
X-107924151-G-A c.4052G>A p.G1351D Missense 46/53 - 1
X-107924157-AG-A c.4063del p.E1355Nfs*22 Frameshift 46/53 - 1
X-107924162-GAA-AAC c.4063_4065delinsAAC p.E1355N Missense 46/53 - 1
X-107924168-G-A c.4069G>A p.G1357R Missense 46/53 - 1
X-107924168-G-C c.4069G>C p.G1357R Missense 46/53 - 1
X-107924177-G-T c.4078G>T p.G1360C Missense 46/53 - 1
X-107925014-TC-T c.4112del p.S1371* Frameshift 47/53 - 1
X-107925038-G-C c.4136G>C p.G1379A Missense 47/53 - 1
X-107925049-C-T c.4147C>T p.P1383S Missense 47/53 - 1
X-107925088-C-T c.4186C>T p.P1396S Missense 47/53 - 1
X-107925100-G-C c.4198G>C p.G1400R Missense 47/53 - 1
X-107925118-G-C c.4216G>C p.G1406R Missense 47/53 - 1
X-107929267-C-G c.4223C>G p.T1408S Missense 48/53 - 1
X-107929288-GA-AC c.4244_4245delinsAC p.G1415D Missense 48/53 - 1
X-107929337-C-T c.4293C>T p.D1431= Synonymous 48/53 - 1
X-107929341-G-A c.4297G>A p.G1433S Missense 48/53 - 1
X-107929341-G-C c.4297G>C p.G1433R Missense 48/53 - 1
X-107929342-G-T c.4298G>T p.G1433V Missense 48/53 - 2
X-107929353-C-G c.4309C>G p.Q1437E Missense 48/53 - 1
X-107929359-G-C c.4315G>C p.G1439R Missense 48/53 - 1
X-107930741-C-T c.4345C>T p.P1449S Missense 49/53 - 1
X-107930748-GA-AC c.4352_4353delinsAC p.G1451D Missense 49/53 - 1
X-107930792-C-T c.4396C>T p.H1466Y Missense 49/53 - 1
X-107930801-C-T c.4405C>T p.L1469F Missense 49/53 - 1
X-107930810-C-T c.4414C>T p.R1472C Missense 49/53 - 1
X-107930833-AC-A c.4439del p.P1480Hfs*74 Frameshift 49/53 - 1
X-107930835-CA-AT c.4439_4440delinsAT p.P1480H Missense 49/53 - 1
X-107930867-G-T c.4471G>T p.E1491* Nonsense 49/53 - 1
X-107930891-C-T c.4495C>T p.Q1499* Nonsense 49/53 - 1
X-107930911-C-T c.4515C>T p.H1505= Synonymous 49/53 - 1
X-107935982-G-A c.4533G>A p.T1511= Synonymous 50/53 - 1
X-107935998-C-A c.4549C>A p.R1517S Missense 50/53 - 1
X-107936016-C-A c.4567C>A p.P1523T Missense 50/53 - 1
X-107936078-C-A c.4629C>A p.Y1543* Nonsense 50/53 - 2
X-107936078-C-G c.4629C>G p.Y1543* Nonsense 50/53 - 1
X-107936096-G-GCA c.4648_4649insAC p.P1550Hfs*5 Frameshift 50/53 - 1
X-107936121-C-T c.4672C>T p.L1558= Synonymous 50/53 - 1
X-107936155-G-A c.4706G>A p.R1569Q Missense 50/53 - 2
X-107938050-G-T c.4720G>T p.E1574* Nonsense 51/53 - 1
X-107938071-G-A c.4741G>A p.A1581T Missense 51/53 - 1
X-107938071-G-T c.4741G>T p.A1581S Missense 51/53 - 1
X-107938072-C-T c.4742C>T p.A1581V Missense 51/53 - 1
X-107938099-C-T c.4769C>T p.P1590L Missense 51/53 - 1
X-107938104-T-C c.4774T>C p.C1592R Missense 51/53 - 1
X-107938113-G-A c.4783G>A p.G1595R Missense 51/53 - 1
X-107938113-G-C c.4783G>C p.G1595R Missense 51/53 - 1
X-107938111-AG-A c.4784del p.G1595Dfs*12 Frameshift 51/53 - 1
X-107938117-G-A c.4787G>A p.W1596* Nonsense 51/53 - 1
X-107938117-G-T c.4787G>T p.W1596L Missense 51/53 - 2
X-107938121-T-G c.4791T>G p.D1597E Missense 51/53 - 1
X-107938549-C-T c.4874C>T p.S1625F Missense 52/53 - 1
X-107938569-TC-AG c.4894_4895delinsAG p.S1632R Missense 52/53 - 1
X-107938570-C-A c.4895C>A p.S1632* Nonsense 52/53 - 1
X-107938570-CA-GG c.4895_4896delinsGG p.S1632W Missense 52/53 - 1
X-107938570-CA-GT c.4895_4896delinsGT p.S1632C Missense 52/53 - 1
X-107938570-C-G c.4895C>G p.S1632* Nonsense 52/53 - 1
X-107938588-G-A c.4913G>A p.C1638Y Missense 52/53 - 3
X-107938636-G-A c.4961G>A p.W1654* Nonsense 52/53 - 1
X-107938637-G-A c.4962G>A p.W1654* Nonsense 52/53 - 1
X-107938639-T-G c.4964T>G p.L1655R Missense 52/53 - 2
X-107938657-C-A c.4982C>A p.S1661* Nonsense 52/53 - 1
X-107938657-C-G c.4982C>G p.S1661* Nonsense 52/53 - 1
X-107939570-C-T c.5038C>T p.R1680* Nonsense 53/53 - 1
X-107939579-C-A c.5047C>A p.R1683= Synonymous 53/53 - 1
X-107939579-CGA-TGG c.5047_5049delinsTGG p.R1683W Missense 53/53 - 1
X-107939579-CGA-TGT c.5047_5049delinsTGT p.R1683C Missense 53/53 - 1
X-107939579-C-T c.5047C>T p.R1683* Nonsense 53/53 - 1
X-107939581-A-C c.5049A>C p.R1683= Synonymous 53/53 - 1
X-107939581-A-G c.5049A>G p.R1683= Synonymous 53/53 - 1
X-107939581-A-T c.5049A>T p.R1683= Synonymous 53/53 - 1
X-107939580-G-A c.5048G>A p.R1683Q Missense 53/53 - 2
X-107939580-G-C c.5048G>C p.R1683P Missense 53/53 - 1
X-107939580-G-T c.5048G>T p.R1683L Missense 53/53 - 1
X-107939582-T-C c.5050T>C p.C1684R Missense 53/53 - 1
X-107939583-G-A c.5051G>A p.C1684Y Missense 53/53 - 1
X-107939584-T-A c.5052T>A p.C1684* Nonsense 53/53 - 1
X-107939584-T-C c.5052T>C p.C1684= Synonymous 53/53 - 1
X-107939584-T-G c.5052T>G p.C1684W Missense 53/53 - 1
X-107939585-C-T c.5053C>T p.Q1685* Nonsense 53/53 - 1
X-107939597-AAG-TAT c.5065_5067delinsTAT p.K1689Y Missense 53/53 - 1
X-107939597-A-C c.5065A>C p.K1689Q Missense 53/53 - 1
X-107939597-A-T c.5065A>T p.K1689* Nonsense 53/53 - 1