TYR tyrosinase

Canonical transcript: NM_000372

767 unique variant annotations were identified in 408 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
11-88911122-A-G c.1A>G p.Met1? Missense 1/5 - 5
11-88911123-T-C c.2T>C p.Met1? Missense 1/5 - 1
11-88911142-C-A c.21C>A p.Tyr7* Nonsense 1/5 - 1
11-88911145-C-A c.24C>A p.Cys8* Nonsense 1/5 - 1
11-88911146-CC-C c.25del p.Leu9Cysfs*22 Frameshift 1/5 - 2
11-88911147-T-A c.26T>A p.Leu9Gln Missense 1/5 - 1
11-88911147-T-C c.26T>C p.Leu9Pro Missense 1/5 - 1
11-88911150-T-A c.29T>A p.Leu10Gln Missense 1/5 - 1
11-88911152-TG-GC c.31_32delinsGC p.Trp11Ala Missense 1/5 - 1
11-88911153-G-A c.32G>A p.Trp11* Nonsense 1/5 - 2
11-88911153-G-C c.32G>C p.Trp11Ser Missense 1/5 - 1
11-88911153-GG-AT c.32_33delinsAT p.Trp11Tyr Missense 1/5 - 1
11-88911155-AG-CA c.34_35delinsCA p.Ser12His Missense 1/5 - 1
11-88911155-AG-GA c.34_35delinsGA p.Ser12Asp Missense 1/5 - 1
11-88911155-AG-GC c.34_35delinsGC p.Ser12Ala Missense 1/5 - 5
11-88911155-AGT-GAG c.34_36delinsGAG p.Ser12Glu Missense 1/5 - 1
11-88911155-AG-TT c.34_35delinsTT p.Ser12Phe Missense 1/5 - 1
11-88911155-A-T c.34A>T p.Ser12Cys Missense 1/5 - 1
11-88911156-G-T c.35G>T p.Ser12Ile Missense 1/5 - 1
11-88911164-A-G c.43A>G p.Thr15Ala Missense 1/5 - 2
11-88911167-T-G c.46T>G p.Ser16Ala Missense 1/5 - 1
11-88911169-CC-C c.48del p.Ala17Leufs*14 Frameshift 1/5 - 1
11-88911174-GG-G c.53del p.Gly18Alafs*13 Frameshift 1/5 - 1
11-88911177-A-G c.56A>G p.His19Arg Missense 1/5 - 1
11-88911178-T-A c.57T>A p.His19Gln Missense 1/5 - 2
11-88911182-C-T c.61C>T p.Pro21Ser Missense 1/5 - 5
11-88911183-C-T c.62C>T p.Pro21Leu Missense 1/5 - 3
11-88911185-A-T c.64A>T p.Arg22* Nonsense 1/5 - 2
11-88911187-A-AC c.66_67insC p.Ala23Argfs*6 Frameshift 1/5 - 1
11-88911188-G-A c.67G>A p.Ala23Thr Missense 1/5 - 1
11-88911188-G-C c.67G>C p.Ala23Pro Missense 1/5 - 1
11-88911189-C-A c.68C>A p.Ala23Asp Missense 1/5 - 1
11-88911191-T-C c.70T>C p.Cys24Arg Missense 1/5 - 1
11-88911192-G-A c.71G>A p.Cys24Tyr Missense 1/5 - 5
11-88911194-G-T c.73G>T p.Val25Phe Missense 1/5 - 2
11-88911195-T-TT c.74dup p.Ser26Leufs*3 Frameshift 1/5 - 2
11-88911200-T-G c.79T>G p.Ser27Ala Missense 1/5 - 1
11-88911203-AA-GC c.82_83delinsGC p.Lys28Ala Missense 1/5 - 1
11-88911207-A-C c.86A>C p.Asn29Thr Missense 1/5 - 1
11-88911214-G-C c.93G>C p.Met31Ile Missense 1/5 - 1
11-88911218-A-T c.97A>T p.Lys33* Nonsense 1/5 - 1
11-88911219-A-C c.98A>C p.Lys33Thr Missense 1/5 - 3
11-88911224-T-C c.103T>C p.Cys35Arg Missense 1/5 - 3
11-88911227-TGT-ATG c.106_108delinsATG p.Cys36Met Missense 1/5 - 1
11-88911228-G-A c.107G>A p.Cys36Tyr Missense 1/5 - 1
11-88911233-C-A c.112C>A p.Pro38Thr Missense 1/5 - 1
11-88911235-G-A c.114G>A p.Pro38Pro Synonymous 1/5 - 1
11-88911235-G-T c.114G>T p.Pro38Pro Synonymous 1/5 - 1
11-88911236-T-C c.115T>C p.Trp39Arg Missense 1/5 - 2
11-88911237-G-A c.116G>A p.Trp39* Nonsense 1/5 - 1
11-88911238-G-T c.117G>T p.Trp39Cys Missense 1/5 - 1
11-88911239-AG-GC c.118_119delinsGC p.Ser40Ala Missense 1/5 - 1
11-88911241-C-G c.120C>G p.Ser40Arg Missense 1/5 - 1
11-88911242-G-A c.121G>A p.Gly41Arg Missense 1/5 - 1
11-88911242-GGG-AGC c.121_123delinsAGC p.Gly41Ser Missense 1/5 - 1
11-88911245-G-A c.124G>A p.Asp42Asn Missense 1/5 - 1
11-88911245-GG-G c.124del p.Asp42Thrfs*78 Frameshift 1/5 - 2
11-88911246-A-G c.125A>G p.Asp42Gly Missense 1/5 - 3
11-88911248-AG-TA c.127_128delinsTA p.Arg43* Nonsense 1/5 - 1
11-88911251-A-C c.130A>C p.Ser44Arg Missense 1/5 - 1
11-88911251-A-G c.130A>G p.Ser44Gly Missense 1/5 - 1
11-88911254-C-A c.133C>A p.Pro45Thr Missense 1/5 - 1
11-88911254-C-T c.133C>T p.Pro45Ser Missense 1/5 - 1
11-88911255-C-T c.134C>T p.Pro45Leu Missense 1/5 - 1
11-88911256-C-CC c.135dup p.Cys46Leufs*31 Frameshift 1/5 - 1
11-88911258-G-A c.137G>A p.Cys46Tyr Missense 1/5 - 3
11-88911259-T-A c.138T>A p.Cys46* Nonsense 1/5 - 1
11-88911260-G-A c.139G>A p.Gly47Ser Missense 1/5 - 1
11-88911260-G-T c.139G>T p.Gly47Cys Missense 1/5 - 1
11-88911261-G-A c.140G>A p.Gly47Asp Missense 1/5 - 9
11-88911261-G-T c.140G>T p.Gly47Val Missense 1/5 - 1
11-88911270-C-A c.149C>A p.Ser50* Nonsense 1/5 - 2
11-88911270-C-G c.149C>G p.Ser50* Nonsense 1/5 - 2
11-88911270-C-T c.149C>T p.Ser50Leu Missense 1/5 - 2
11-88911272-G-C c.151G>C p.Gly51Arg Missense 1/5 - 1
11-88911273-G-A c.152G>A p.Gly51Asp Missense 1/5 - 1
11-88911276-G-A c.155G>A p.Arg52Lys Missense 1/5 - 2
11-88911276-G-C c.155G>C p.Arg52Thr Missense 1/5 - 2
11-88911276-G-T c.155G>T p.Arg52Ile Missense 1/5 - 2
11-88911282-CC-AA c.161_162delinsAA p.Ser54* Nonsense 1/5 - 1
11-88911284-T-C c.163T>C p.Cys55Arg Missense 1/5 - 1
11-88911285-G-A c.164G>A p.Cys55Tyr Missense 1/5 - 4
11-88911285-G-C c.164G>C p.Cys55Ser Missense 1/5 - 2
11-88911289-G-T c.168G>T p.Gln56His Missense 1/5 - 1
11-88911293-AT-GC c.172_173delinsGC p.Ile58Ala Missense 1/5 - 1
11-88911296-CT-GG c.175_176delinsGG p.Leu59Gly Missense 1/5 - 1
11-88911299-C-T c.178C>T p.Leu60Leu Synonymous 1/5 - 1
11-88911300-T-G c.179T>G p.Leu60Arg Missense 1/5 - 1
11-88911314-C-T c.193C>T p.Leu65Phe Missense 1/5 - 1
11-88911321-C-T c.200C>T p.Pro67Leu Missense 1/5 - 1
11-88911325-A-T c.204A>T p.Gln68His Missense 1/5 - 1
11-88911329-C-A c.208C>A p.Pro70Thr Missense 1/5 - 1
11-88911329-C-T c.208C>T p.Pro70Ser Missense 1/5 - 1
11-88911344-GG-G c.223del p.Asp75Metfs*45 Frameshift 1/5 - 1
11-88911344-G-T c.223G>T p.Asp75Tyr Missense 1/5 - 2
11-88911349-C-G c.228C>G p.Asp76Glu Missense 1/5 - 2
11-88911350-C-G c.229C>G p.Arg77Gly Missense 1/5 - 4
11-88911350-CGG-TGT c.229_231delinsTGT p.Arg77Cys Missense 1/5 - 1
11-88911350-C-T c.229C>T p.Arg77Trp Missense 1/5 - 8
11-88911351-G-A c.230G>A p.Arg77Gln Missense 1/5 - 16
11-88911351-GGG-GGGGGG c.230_232dup p.Arg77_Glu78insGly InFrameInsertion 1/5 - 1
11-88911351-G-T c.230G>T p.Arg77Leu Missense 1/5 - 2
11-88911353-G-T c.232G>T p.Glu78* Nonsense 1/5 - 2
11-88911356-T-C c.235T>C p.Ser79Pro Missense 1/5 - 1
11-88911357-C-T c.236C>T p.Ser79Leu Missense 1/5 - 1
11-88911359-T-C c.238T>C p.Trp80Arg Missense 1/5 - 2
11-88911361-G-A c.240G>A p.Trp80* Nonsense 1/5 - 2
11-88911361-G-C c.240G>C p.Trp80Cys Missense 1/5 - 1
11-88911362-C-T c.241C>T p.Pro81Ser Missense 1/5 - 1
11-88911363-C-T c.242C>T p.Pro81Leu Missense 1/5 - 6
11-88911366-CC-AA c.245_246delinsAA p.Ser82* Nonsense 1/5 - 1
11-88911371-T-G c.250T>G p.Phe84Val Missense 1/5 - 2
11-88911376-T-A c.255T>A p.Tyr85* Nonsense 1/5 - 2
11-88911376-T-G c.255T>G p.Tyr85* Nonsense 1/5 - 1
11-88911380-A-G c.259A>G p.Arg87Gly Missense 1/5 - 1
11-88911380-AG-CA c.259_260delinsCA p.Arg87Gln Missense 1/5 - 1
11-88911380-A-C c.259A>C p.Arg87Arg Synonymous 1/5 - 1
11-88911382-G-A c.261G>A p.Arg87Arg Synonymous 1/5 - 1
11-88911384-C-T c.263C>T p.Thr88Ile Missense 1/5 - 1
11-88911386-T-A c.265T>A p.Cys89Ser Missense 1/5 - 1
11-88911386-T-C c.265T>C p.Cys89Arg Missense 1/5 - 4
11-88911390-A-C c.269A>C p.Gln90Pro Missense 1/5 - 1
11-88911390-A-G c.269A>G p.Gln90Arg Missense 1/5 - 1
11-88911393-G-A c.272G>A p.Cys91Tyr Missense 1/5 - 3
11-88911393-G-C c.272G>C p.Cys91Ser Missense 1/5 - 2
11-88911396-CT-AA c.275_276delinsAA p.Ser92* Nonsense 1/5 - 1
11-88911401-AA-TG c.280_281delinsTG p.Asn94Cys Missense 1/5 - 1
11-88911406-C-T c.285C>T p.Phe95Phe Synonymous 1/5 - 1
11-88911407-A-AA c.286dup p.Met96Asnfs*73 Frameshift 1/5 - 4
11-88911408-ATGGGATTCA-A c.287_295del p.Met96_Phe98del InFrameDeletion 1/5 - 1
11-88911408-T-A c.287T>A p.Met96Lys Missense 1/5 - 1
11-88911408-TG-AC c.287_288delinsAC p.Met96Asn Missense 1/5 - 1
11-88911410-G-A c.289G>A p.Gly97Arg Missense 1/5 - 2
11-88911410-GGA-AGC c.289_291delinsAGC p.Gly97Ser Missense 1/5 - 1
11-88911411-GA-AC c.290_291delinsAC p.Gly97Asp Missense 1/5 - 1
11-88911411-G-C c.290G>C p.Gly97Ala Missense 1/5 - 1
11-88911411-G-T c.290G>T p.Gly97Val Missense 1/5 - 1
11-88911420-G-T c.299G>T p.Cys100Phe Missense 1/5 - 1
11-88911421-T-G c.300T>G p.Cys100Trp Missense 1/5 - 1
11-88911428-T-A c.307T>A p.Cys103Ser Missense 1/5 - 2
11-88911429-G-C c.308G>C p.Cys103Ser Missense 1/5 - 2
11-88911429-G-A c.308G>A p.Cys103Tyr Missense 1/5 - 1
11-88911437-G-A c.316G>A p.Gly106Ser Missense 1/5 - 1
11-88911437-G-C c.316G>C p.Gly106Arg Missense 1/5 - 1
11-88911445-G-A c.324G>A p.Trp108* Nonsense 1/5 - 1
11-88911446-G-A c.325G>A p.Gly109Arg Missense 1/5 - 1
11-88911455-T-C c.334T>C p.Cys112Arg Missense 1/5 - 2
11-88911459-ACA-A c.338_339del p.Thr113Argfs*55 Frameshift 1/5 - 1
11-88911465-AGA-A c.344_345del p.Arg115Thrfs*53 Frameshift 1/5 - 1
11-88911467-CGA-TGT c.346_348delinsTGT p.Arg116Cys Missense 1/5 - 1
11-88911467-C-T c.346C>T p.Arg116* Nonsense 1/5 - 15
11-88911468-G-T c.347G>T p.Arg116Leu Missense 1/5 - 1
11-88911469-A-G c.348A>G p.Arg116Arg Synonymous 1/5 - 1
11-88911473-T-A c.352T>A p.Leu118Met Missense 1/5 - 1
11-88911473-TT-GC c.352_353delinsGC p.Leu118Ala Missense 1/5 - 1
11-88911482-AG-CC c.361_362delinsCC p.Arg121Pro Missense 1/5 - 1
11-88911489-T-C c.368T>C p.Ile123Thr Missense 1/5 - 2
11-88911494-G-A c.373G>A p.Asp125Asn Missense 1/5 - 2
11-88911494-G-C c.373G>C p.Asp125His Missense 1/5 - 1
11-88911494-G-T c.373G>T p.Asp125Tyr Missense 1/5 - 3
11-88911495-A-G c.374A>G p.Asp125Gly Missense 1/5 - 1
11-88911496-T-A c.375T>A p.Asp125Glu Missense 1/5 - 1
11-88911500-AG-CT c.379_380inv p.Ser127Leu Missense 1/5 - 1
11-88911512-A-G c.391A>G p.Lys131Glu Missense 1/5 - 1
11-88911512-GAAG-G c.391_393del p.Lys131del InFrameDeletion 1/5 - 1
11-88911522-T-G c.401T>G p.Phe134Cys Missense 1/5 - 1
11-88911524-T-A c.403T>A p.Phe135Ile Missense 1/5 - 1
11-88911537-C-CC c.416dup p.Leu140Phefs*29 Frameshift 1/5 - 1
11-88911537-C-T c.416C>T p.Thr139Ile Missense 1/5 - 1
11-88911540-T-G c.419T>G p.Leu140* Nonsense 1/5 - 1
11-88911546-A-T c.425A>T p.Lys142Met Missense 1/5 - 3
11-88911547-G-T c.426G>T p.Lys142Asn Missense 1/5 - 2
11-88911549-A-G c.428A>G p.His143Arg Missense 1/5 - 1
11-88911551-A-G c.430A>G p.Thr144Ala Missense 1/5 - 1
11-88911567-A-G c.446A>G p.Tyr149Cys Missense 1/5 - 3
11-88911567-TAT-T c.446_447del p.Tyr149Cysfs*19 Frameshift 1/5 - 1
11-88911569-GTC-ATG c.448_450delinsATG p.Val150Met Missense 1/5 - 1
11-88911571-C-T c.450C>T p.Val150Val Synonymous 1/5 - 1
11-88911573-T-G c.452T>G p.Ile151Ser Missense 1/5 - 1
11-88911575-C-T c.454C>T p.Pro152Ser Missense 1/5 - 3
11-88911576-C-A c.455C>A p.Pro152His Missense 1/5 - 1
11-88911577-CC-C c.456del p.Ile153* Frameshift 1/5 - 1
11-88911580-A-AT c.459_460insT p.Gly154Trpfs*15 Frameshift 1/5 - 1
11-88911584-A-T c.463A>T p.Thr155Ser Missense 1/5 - 1
11-88911600-A-G c.479A>G p.Lys160Arg Missense 1/5 - 1
11-88911601-A-C c.480A>C p.Lys160Asn Missense 1/5 - 1
11-88911601-A-T c.480A>T p.Lys160Asn Missense 1/5 - 1
11-88911602-A-G c.481A>G p.Asn161Asp Missense 1/5 - 1
11-88911606-GA-AC c.485_486delinsAC p.Gly162Asp Missense 1/5 - 1
11-88911609-C-G c.488C>G p.Ser163* Nonsense 1/5 - 1
11-88911612-CA-AC c.491_492delinsAC p.Thr164Asn Missense 1/5 - 1
11-88911623-A-G c.502A>G p.Asn168Asp Missense 1/5 - 1
11-88911626-CGAC-C c.505_507del p.Asp169del InFrameDeletion 1/5 - 2
11-88911636-T-A c.515T>A p.Ile172Asn Missense 1/5 - 1
11-88911647-T-A c.526T>A p.Phe176Ile Missense 1/5 - 1
11-88911650-G-T c.529G>T p.Val177Phe Missense 1/5 - 3
11-88911651-T-A c.530T>A p.Val177Asp Missense 1/5 - 1
11-88911654-G-A c.533G>A p.Trp178* Nonsense 1/5 - 1
11-88911654-G-C c.533G>C p.Trp178Ser Missense 1/5 - 1
11-88911656-A-T c.535A>T p.Met179Leu Missense 1/5 - 1
11-88911659-C-A c.538C>A p.His180Asn Missense 1/5 - 3
11-88911660-A-G c.539A>G p.His180Arg Missense 1/5 - 2
11-88911663-A-G c.542A>G p.Tyr181Cys Missense 1/5 - 2
11-88911670-TGT-T c.549_550del p.Ser184Asnfs*9 Frameshift 1/5 - 1
11-88911672-C-A c.551C>A p.Ser184* Nonsense 1/5 - 2
11-88911672-C-G c.551C>G p.Ser184* Nonsense 1/5 - 2
11-88911674-A-G c.553A>G p.Met185Val Missense 1/5 - 1
11-88911676-G-A c.555G>A p.Met185Ile Missense 1/5 - 1
11-88911676-G-C c.555G>C p.Met185Ile Missense 1/5 - 1
11-88911676-G-T c.555G>T p.Met185Ile Missense 1/5 - 1
11-88911682-A-ATTATTATGTGTCAAATTATCCCCCA c.561_562insTTATTATGTGTCAAATTATCCCCCA p.Gly190Cysfs*12 Frameshift 1/5 - 1
11-88911683-C-CATTATTATGTGTCAAATTATCCCCC c.562_563insATTATTATGTGTCAAATTATCCCCC p.Leu188Hisfs*14 Frameshift 1/5 - 1
11-88911693-G-GG c.572dup p.Ser192Ilefs*2 Frameshift 1/5 - 1
11-88911693-GG-G c.572del p.Gly191Aspfs*35 Frameshift 1/5 - 3
11-88911693-G-T c.572G>T p.Gly191Val Missense 1/5 - 1
11-88911694-GA-G c.573del p.Ser192Leufs*34 Frameshift 1/5 - 2
11-88911696-C-A c.575C>A p.Ser192Tyr Missense 1/5 - 131
11-88911698-G-T c.577G>T p.Glu193* Nonsense 1/5 - 1
11-88911702-T-C c.581T>C p.Ile194Thr Missense 1/5 - 1
11-88911706-G-A c.585G>A p.Trp195* Nonsense 1/5 - 1
11-88911706-G-C c.585G>C p.Trp195Cys Missense 1/5 - 1
11-88911710-AGA-A c.589_590del p.Asp197Hisfs*2 Frameshift 1/5 - 1
11-88911714-T-C c.593T>C p.Ile198Thr Missense 1/5 - 1
11-88911716-G-A c.595G>A p.Asp199Asn Missense 1/5 - 1
11-88911722-G-T c.601G>T p.Ala201Ser Missense 1/5 - 1
11-88911722-TG-T c.601del p.Ala201Profs*25 Frameshift 1/5 - 1
11-88911726-A-G c.605A>G p.His202Arg Missense 1/5 - 4
11-88911727-T-G c.606T>G p.His202Gln Missense 1/5 - 6
11-88911732-C-G c.611C>G p.Ala204Gly Missense 1/5 - 1
11-88911734-C-A c.613C>A p.Pro205Thr Missense 1/5 - 4
11-88911737-G-A c.616G>A p.Ala206Thr Missense 1/5 - 5
11-88911747-C-G c.626C>G p.Pro209Arg Missense 1/5 - 2
11-88911747-C-T c.626C>T p.Pro209Leu Missense 1/5 - 2
11-88911752-CA-AC c.631_632delinsAC p.His211Thr Missense 1/5 - 1
11-88911753-A-G c.632A>G p.His211Arg Missense 1/5 - 2
11-88911756-G-A c.635G>A p.Arg212Lys Missense 1/5 - 2
11-88911756-G-C c.635G>C p.Arg212Thr Missense 1/5 - 1
11-88911757-A-T c.636A>T p.Arg212Ser Missense 1/5 - 2
11-88911763-TCTT-T c.642_644del p.Phe214del InFrameDeletion 1/5 - 2
11-88911767-T-A c.646T>A p.Leu216Met Missense 1/5 - 1
11-88911770-C-G c.649C>G p.Arg217Gly Missense 1/5 - 3
11-88911770-CGG-AGC c.649_651delinsAGC p.Arg217Ser Missense 1/5 - 1
11-88911770-CG-TA c.649_650delinsTA p.Arg217* Nonsense 1/5 - 1
11-88911770-C-T c.649C>T p.Arg217Trp Missense 1/5 - 9
11-88911770-GC-G c.649del p.Arg217Glyfs*9 Frameshift 1/5 - 2
11-88911771-G-A c.650G>A p.Arg217Gln Missense 1/5 - 9
11-88911771-G-C c.650G>C p.Arg217Pro Missense 1/5 - 1
11-88911771-G-T c.650G>T p.Arg217Leu Missense 1/5 - 2
11-88911773-T-C c.652T>C p.Trp218Arg Missense 1/5 - 1
11-88911774-G-A c.653G>A p.Trp218* Nonsense 1/5 - 1
11-88911776-G-A c.655G>A p.Glu219Lys Missense 1/5 - 2
11-88911776-G-T c.655G>T p.Glu219* Nonsense 1/5 - 1
11-88911782-G-A c.661G>A p.Glu221Lys Missense 1/5 - 2
11-88911785-A-G c.664A>G p.Ile222Val Missense 1/5 - 1
11-88911786-T-C c.665T>C p.Ile222Thr Missense 1/5 - 2
11-88911800-GGA-TGG c.679_681delinsTGG p.Gly227Trp Missense 1/5 - 1
11-88911800-G-T c.679G>T p.Gly227* Nonsense 1/5 - 2
11-88911801-GGAG-G c.680_682del p.Gly227del InFrameDeletion 1/5 - 2
11-88911824-T-C c.703T>C p.Tyr235His Missense 1/5 - 3
11-88911827-T-C c.706T>C p.Trp236Arg Missense 1/5 - 2
11-88911828-G-A c.707G>A p.Trp236* Nonsense 1/5 - 1
11-88911828-G-C c.707G>C p.Trp236Ser Missense 1/5 - 2
11-88911828-G-T c.707G>T p.Trp236Leu Missense 1/5 - 1
11-88911831-GA-G c.710del p.Asp237Alafs*82 Frameshift 1/5 - 1
11-88911835-G-A c.714G>A p.Trp238* Nonsense 1/5 - 1
11-88911836-C-T c.715C>T p.Arg239Trp Missense 1/5 - 7
11-88911837-G-A c.716G>A p.Arg239Gln Missense 1/5 - 1
11-88911840-A-T c.719A>T p.Asp240Val Missense 1/5 - 1
11-88911842-G-A c.721G>A p.Ala241Thr Missense 1/5 - 1
11-88911849-A-C c.728A>C p.Lys243Thr Missense 1/5 - 1
11-88911851-TG-AC c.730_731delinsAC p.Cys244Thr Missense 1/5 - 1
11-88911852-G-T c.731G>T p.Cys244Phe Missense 1/5 - 3
11-88911853-GTG-G c.732_733del p.Cys244* Frameshift 1/5 - 2
11-88911861-G-T c.740G>T p.Cys247Phe Missense 1/5 - 1
11-88911867-A-G c.746A>G p.Asp249Gly Missense 1/5 - 2
11-88911869-G-T c.748G>T p.Glu250* Nonsense 1/5 - 1
11-88911875-A-C c.754A>C p.Met252Leu Missense 1/5 - 1
11-88911875-A-G c.754A>G p.Met252Val Missense 1/5 - 1
11-88911878-G-A c.757G>A p.Gly253Arg Missense 1/5 - 3
11-88911879-G-A c.758G>A p.Gly253Glu Missense 1/5 - 5
11-88911884-C-T c.763C>T p.Gln255* Nonsense 1/5 - 1
11-88911887-CA-GC c.766_767delinsGC p.His256Ala Missense 1/5 - 1
11-88911887-C-T c.766C>T p.His256Tyr Missense 1/5 - 2
11-88911900-C-T c.779C>T p.Pro260Leu Missense 1/5 - 2
11-88911902-TAACT-T c.781_784del p.Asn261Tyrfs*57 Frameshift 1/5 - 1
11-88911903-AACTTACTCAGCC-A c.782_793del p.Asn261_Pro265delinsThr MultiAAMissense 1/5 - 1
11-88911903-A-G c.782A>G p.Asn261Ser Missense 1/5 - 1
11-88911905-T-G c.784T>G p.Leu262Val Missense 1/5 - 1
11-88911911-AGC-GAG c.790_792delinsGAG p.Ser264Glu Missense 1/5 - 1
11-88911917-G-A c.796G>A p.Ala266Thr Missense 1/5 - 1
11-88911917-G-C c.796G>C p.Ala266Pro Missense 1/5 - 1
11-88911929-TC-AA c.808_809delinsAA p.Ser270Asn Missense 1/5 - 1
11-88911935-T-C c.814T>C p.Trp272Arg Missense 1/5 - 2
11-88911937-G-C c.816G>C p.Trp272Cys Missense 1/5 - 4
11-88911937-G-T c.816G>T p.Trp272Cys Missense 1/5 - 3
11-88911938-C-CGA c.817_818insGA p.Gln273Argfs*47 SpliceDonorInsertion 1/5 - 1
11-88912190-T-A c.819+250T>A - IntronicSNV - 1/4 2
11-88912190-T-C c.819+250T>C - IntronicSNV - 1/4 2
11-88912691-T-C c.819+751T>C - IntronicSNV - 1/4 1
11-88913153-A-G c.819+1213A>G - IntronicSNV - 1/4 1
11-88913279-T-A c.819+1339T>A - IntronicSNV - 1/4 1
11-88913645-A-T c.819+1705A>T - IntronicSNV - 1/4 1
11-88913663-A-G c.819+1723A>G - IntronicSNV - 1/4 6
11-88913663-A-T c.819+1723A>T - IntronicSNV - 1/4 6
11-88913737-T-C c.819+1797T>C - IntronicSNV - 1/4 1
11-88913737-T-G c.819+1797T>G - IntronicSNV - 1/4 1
11-88913878-G-A c.819+1938G>A - IntronicSNV - 1/4 1
11-88913902-A-C c.819+1962A>C - IntronicSNV - 1/4 1
11-88914415-C-T c.819+2475C>T - IntronicSNV - 1/4 1
11-88915570-A-G c.819+3630A>G - IntronicSNV - 1/4 2
11-88917110-C-T c.819+5170C>T - IntronicSNV - 1/4 1
11-88917130-A-G c.819+5190A>G - IntronicSNV - 1/4 1
11-88917622-C-T c.819+5682C>T - IntronicSNV - 1/4 1
11-88917636-C-T c.819+5696C>T - IntronicSNV - 1/4 1
11-88917660-T-C c.819+5720T>C - IntronicSNV - 1/4 1
11-88917784-C-T c.819+5844C>T - IntronicSNV - 1/4 1
11-88917970-C-T c.819+6030C>T - IntronicSNV - 1/4 1
11-88918084-T-C c.819+6144T>C - IntronicSNV - 1/4 1
11-88918200-T-C c.820-6170T>C - IntronicSNV - 1/4 1
11-88919067-C-A c.820-5303C>A - IntronicSNV - 1/4 3
11-88919816-C-A c.820-4554C>A - IntronicSNV - 1/4 1
11-88919816-C-T c.820-4554C>T - IntronicSNV - 1/4 1
11-88919828-C-A c.820-4542C>A - IntronicSNV - 1/4 1
11-88919828-C-T c.820-4542C>T - IntronicSNV - 1/4 1
11-88919839-G-A c.820-4531G>A - IntronicSNV - 1/4 1
11-88919870-G-C c.820-4500G>C - IntronicSNV - 1/4 1
11-88919905-T-C c.820-4465T>C - IntronicSNV - 1/4 2
11-88919952-T-G c.820-4418T>G - IntronicSNV - 1/4 1
11-88919969-G-A c.820-4401G>A - IntronicSNV - 1/4 1
11-88919972-G-A c.820-4398G>A - IntronicSNV - 1/4 1
11-88919972-G-C c.820-4398G>C - IntronicSNV - 1/4 1
11-88919972-G-T c.820-4398G>T - IntronicSNV - 1/4 1
11-88920016-G-C c.820-4354G>C - IntronicSNV - 1/4 1
11-88921524-C-T c.820-2846C>T - IntronicSNV - 1/4 3
11-88921557-C-T c.820-2813C>T - IntronicSNV - 1/4 2
11-88921572-C-A c.820-2798C>A - IntronicSNV - 1/4 3
11-88922008-G-T c.820-2362G>T - IntronicSNV - 1/4 2
11-88924363-T-A c.820-7T>A - IntronicSNV - 1/4 1
11-88924367-C-G c.820-3C>G - IntronicSNV - 1/4 1
11-88924368-A-G c.820-2A>G - IntronicSNV - 1/4 2
11-88924368-CA-C c.820-2del - IntronicDeletion - 1/4 1
11-88924370-GATTGTCTGTAGCCGATTGGAGGAGTACAACAGCCATCAGTCTTTATGCAATGGAACGCC-G c.820_878del p.Ile274Argfs*7 SpliceAcceptorDeletion 2/5 - 1
11-88924373-G-T c.823G>T p.Val275Phe Missense 2/5 - 9
11-88924376-T-C c.826T>C p.Cys276Arg Missense 2/5 - 1
11-88924377-G-A c.827G>A p.Cys276Tyr Missense 2/5 - 1
11-88924379-AG-CT c.829_830inv p.Ser277Leu Missense 2/5 - 2
11-88924379-AGC-TGG c.829_831delinsTGG p.Ser277Trp Missense 2/5 - 1
11-88924382-C-T c.832C>T p.Arg278* Nonsense 2/5 - 17
11-88924383-G-A c.833G>A p.Arg278Gln Missense 2/5 - 1
11-88924385-T-C c.835T>C p.Leu279Leu Synonymous 2/5 - 1
11-88924385-T-G c.835T>G p.Leu279Val Missense 2/5 - 1
11-88924388-G-A c.838G>A p.Glu280Lys Missense 2/5 - 1
11-88924388-G-T c.838G>T p.Glu280* Nonsense 2/5 - 1
11-88924391-GG-G c.841del p.Glu281Serfs*38 Frameshift 2/5 - 1
11-88924392-A-G c.842A>G p.Glu281Gly Missense 2/5 - 1
11-88924392-GA-G c.842del p.Glu281Glyfs*38 Frameshift 2/5 - 1
11-88924398-A-T c.848A>T p.Asn283Ile Missense 2/5 - 1
11-88924401-G-C c.851G>C p.Ser284Thr Missense 2/5 - 1
11-88924412-TTT-T c.862_863del p.Leu288Metfs*12 Frameshift 2/5 - 1
11-88924413-T-C c.863T>C p.Leu288Ser Missense 2/5 - 2
11-88924413-TT-T c.863del p.Leu288Tyrfs*31 Frameshift 2/5 - 1
11-88924414-A-T c.864A>T p.Leu288Phe Missense 2/5 - 2
11-88924415-T-C c.865T>C p.Cys289Arg Missense 2/5 - 3
11-88924415-T-G c.865T>G p.Cys289Gly Missense 2/5 - 2
11-88924416-G-A c.866G>A p.Cys289Tyr Missense 2/5 - 2
11-88924425-C-T c.875C>T p.Thr292Met Missense 2/5 - 1
11-88924430-G-A c.880G>A p.Glu294Lys Missense 2/5 - 3
11-88924431-A-G c.881A>G p.Glu294Gly Missense 2/5 - 2
11-88924433-G-A c.883G>A p.Gly295Arg Missense 2/5 - 2
11-88924442-CG-GC c.892_893delinsGC p.Arg298Ala Missense 2/5 - 1
11-88924442-C-T c.892C>T p.Arg298Trp Missense 2/5 - 1
11-88924445-C-A c.895C>A p.Arg299Ser Missense 2/5 - 4
11-88924445-C-T c.895C>T p.Arg299Cys Missense 2/5 - 5
11-88924446-G-A c.896G>A p.Arg299His Missense 2/5 - 24
11-88924449-A-C c.899A>C p.Asn300Thr Missense 2/5 - 1
11-88924452-C-T c.902C>T p.Pro301Leu Missense 2/5 - 1
11-88924460-CA-GC c.910_911delinsGC p.His304Ala Missense 2/5 - 1
11-88924461-CATGA-C c.911_914del p.His304Profs*14 Frameshift 2/5 - 1
11-88924463-G-A c.913G>A p.Asp305Asn Missense 2/5 - 1
11-88924465-C-A c.915C>A p.Asp305Glu Missense 2/5 - 3
11-88924467-A-G c.917A>G p.Lys306Arg Missense 2/5 - 1
11-88924469-TC-CT c.919_920delinsCT p.Ser307Leu Missense 2/5 - 1
11-88924469-TC-GG c.919_920delinsGG p.Ser307Gly Missense 2/5 - 1
11-88924473-G-C c.923G>C p.Arg308Thr Missense 2/5 - 1
11-88924475-A-G c.925A>G p.Thr309Ala Missense 2/5 - 1
11-88924476-CC-GG c.926_927inv p.Thr309Arg Missense 2/5 - 1
11-88924476-C-T c.926C>T p.Thr309Ile Missense 2/5 - 1
11-88924479-C-CC c.929dup p.Arg311Lysfs*7 Frameshift 2/5 - 10
11-88924484-C-A c.934C>A p.Leu312Ile Missense 2/5 - 2
11-88924484-C-G c.934C>G p.Leu312Val Missense 2/5 - 2
11-88924485-CTCC-C c.935_937del p.Leu312del InFrameDeletion 2/5 - 1
11-88924487-C-A c.937C>A p.Pro313Thr Missense 2/5 - 1
11-88924488-C-G c.938C>G p.Pro313Arg Missense 2/5 - 3
11-88924489-CC-C c.939del p.Ser314Leufs*5 Frameshift 2/5 - 1
11-88924494-C-G c.944C>G p.Ser315* Nonsense 2/5 - 1
11-88924497-GCTG-G c.947_949del p.Ala316del InFrameDeletion 2/5 - 1
11-88924499-G-A c.949G>A p.Asp317Asn Missense 2/5 - 1
11-88924500-A-G c.950A>G p.Asp317Gly Missense 2/5 - 1
11-88924503-T-A c.953T>A p.Val318Glu Missense 2/5 - 1
11-88924511-T-C c.961T>C p.Cys321Arg Missense 2/5 - 1
11-88924512-G-T c.962G>T p.Cys321Phe Missense 2/5 - 1
11-88924517-A-C c.967A>C p.Ser323Arg Missense 2/5 - 1
11-88924519-T-A c.969T>A p.Ser323Arg Missense 2/5 - 1
11-88924519-T-G c.969T>G p.Ser323Arg Missense 2/5 - 1
11-88924523-A-G c.973A>G p.Thr325Ala Missense 2/5 - 4
11-88924526-CC-C c.976del p.Gln326Asnfs*29 Frameshift 2/5 - 2
11-88924526-C-T c.976C>T p.Gln326* Nonsense 2/5 - 1
11-88924527-A-G c.977A>G p.Gln326Arg Missense 2/5 - 1
11-88924528-AA-A c.978del p.Gln326Hisfs*29 Frameshift 2/5 - 1
11-88924530-A-G c.980A>G p.Tyr327Cys Missense 2/5 - 3
11-88924532-G-A c.982G>A p.Glu328Lys Missense 2/5 - 1
11-88924532-G-C c.982G>C p.Glu328Gln Missense 2/5 - 3
11-88924535-T-C c.985T>C p.Ser329Pro Missense 2/5 - 2
11-88924545-T-C c.995T>C p.Met332Thr Missense 2/5 - 2
11-88924546-G-A c.996G>A p.Met332Ile Missense 2/5 - 6
11-88924547-G-A c.997G>A p.Asp333Asn Missense 2/5 - 1
11-88924554-C-T c.1004C>T p.Ala335Val Missense 2/5 - 1
11-88924559-A-G c.1009A>G p.Asn337Asp Missense 2/5 - 1
11-88924561-T-TC c.1011_1012insC p.Phe338Leufs*4 Frameshift 2/5 - 1
11-88924565-A-G c.1015A>G p.Ser339Gly Missense 2/5 - 2
11-88924566-G-A c.1016G>A p.Ser339Asn Missense 2/5 - 1
11-88924568-T-C c.1018T>C p.Phe340Leu Missense 2/5 - 3
11-88924571-A-G c.1021A>G p.Arg341Gly Missense 2/5 - 1
11-88924571-AGA-TGG c.1021_1023delinsTGG p.Arg341Trp Missense 2/5 - 1
11-88924575-A-G c.1025A>G p.Asn342Ser Missense 2/5 - 1
11-88924584-A-G c.1034A>G p.Glu345Gly Missense 2/5 - 1
11-88924584-GAAGG-G c.1034_1036+1del - SpliceDonorDeletion 2/5 2/4 1
11-88924586-G-T c.1036G>T p.Gly346* Nonsense 2/5 - 1
11-88924588-T-G c.1036+2T>G - IntronicSNV - 2/4 2
11-88925242-G-A c.1036+656G>A - IntronicSNV - 2/4 1
11-88925242-G-C c.1036+656G>C - IntronicSNV - 2/4 1
11-88925328-A-C c.1036+742A>C - IntronicSNV - 2/4 1
11-88925955-T-C c.1036+1369T>C - IntronicSNV - 2/4 1
11-88926481-G-A c.1036+1895G>A - IntronicSNV - 2/4 2
11-88928132-C-T c.1036+3546C>T - IntronicSNV - 2/4 1
11-88928561-A-T c.1036+3975A>T - IntronicSNV - 2/4 1
11-88928672-C-A c.1036+4086C>A - IntronicSNV - 2/4 1
11-88928676-G-A c.1036+4090G>A - IntronicSNV - 2/4 1
11-88928835-C-T c.1036+4249C>T - IntronicSNV - 2/4 1
11-88928905-A-G c.1036+4319A>G - IntronicSNV - 2/4 2
11-88929531-A-G c.1036+4945A>G - IntronicSNV - 2/4 1
11-88929624-C-A c.1036+5038C>A - IntronicSNV - 2/4 1
11-88929624-C-T c.1036+5038C>T - IntronicSNV - 2/4 1
11-88930106-C-T c.1036+5520C>T - IntronicSNV - 2/4 1
11-88930148-C-T c.1036+5562C>T - IntronicSNV - 2/4 1
11-88930377-A-G c.1036+5791A>G - IntronicSNV - 2/4 8
11-88930581-A-G c.1036+5995A>G - IntronicSNV - 2/4 2
11-88930584-C-T c.1036+5998C>T - IntronicSNV - 2/4 1
11-88930907-G-A c.1036+6321G>A - IntronicSNV - 2/4 1
11-88931487-C-G c.1036+6901C>G - IntronicSNV - 2/4 1
11-88931487-C-T c.1036+6901C>T - IntronicSNV - 2/4 1
11-88931488-G-A c.1036+6902G>A - IntronicSNV - 2/4 1
11-88931488-G-C c.1036+6902G>C - IntronicSNV - 2/4 1
11-88931488-G-T c.1036+6902G>T - IntronicSNV - 2/4 1
11-88931514-T-C c.1036+6928T>C - IntronicSNV - 2/4 1
11-88931636-C-T c.1036+7050C>T - IntronicSNV - 2/4 2
11-88932412-C-T c.1036+7826C>T - IntronicSNV - 2/4 1
11-88932763-C-T c.1036+8177C>T - IntronicSNV - 2/4 1
11-88933250-C-T c.1036+8664C>T - IntronicSNV - 2/4 2
11-88933252-A-C c.1036+8666A>C - IntronicSNV - 2/4 1
11-88933337-G-A c.1036+8751G>A - IntronicSNV - 2/4 1
11-88933411-T-C c.1036+8825T>C - IntronicSNV - 2/4 1
11-88933411-T-G c.1036+8825T>G - IntronicSNV - 2/4 1
11-88933629-C-G c.1036+9043C>G - IntronicSNV - 2/4 1
11-88933629-C-T c.1036+9043C>T - IntronicSNV - 2/4 1
11-88933658-T-C c.1036+9072T>C - IntronicSNV - 2/4 1
11-88935032-A-G c.1036+10446A>G - IntronicSNV - 2/4 2
11-88935088-C-T c.1036+10502C>T - IntronicSNV - 2/4 3
11-88936007-T-C c.1036+11421T>C - IntronicSNV - 2/4 1
11-88936512-G-A c.1036+11926G>A - IntronicSNV - 2/4 1
11-88938356-A-G c.1036+13770A>G - IntronicSNV - 2/4 1
11-88938933-G-C c.1036+14347G>C - IntronicSNV - 2/4 1
11-88942313-T-C c.1036+17727T>C - IntronicSNV - 2/4 1
11-88942640-G-A c.1036+18054G>A - IntronicSNV - 2/4 1
11-88942802-C-A c.1037-18189C>A - IntronicSNV - 2/4 1
11-88942802-C-T c.1037-18189C>T - IntronicSNV - 2/4 1
11-88942803-G-A c.1037-18188G>A - IntronicSNV - 2/4 1
11-88942865-C-G c.1037-18126C>G - IntronicSNV - 2/4 1
11-88942865-C-T c.1037-18126C>T - IntronicSNV - 2/4 1
11-88942939-G-A c.1037-18052G>A - IntronicSNV - 2/4 1
11-88942956-G-C c.1037-18035G>C - IntronicSNV - 2/4 1
11-88943035-T-C c.1037-17956T>C - IntronicSNV - 2/4 1
11-88943153-G-A c.1037-17838G>A - IntronicSNV - 2/4 1
11-88943153-G-T c.1037-17838G>T - IntronicSNV - 2/4 1
11-88943182-A-G c.1037-17809A>G - IntronicSNV - 2/4 1
11-88943292-A-T c.1037-17699A>T - IntronicSNV - 2/4 1
11-88943350-G-A c.1037-17641G>A - IntronicSNV - 2/4 1
11-88943484-G-C c.1037-17507G>C - IntronicSNV - 2/4 1
11-88943507-C-A c.1037-17484C>A - IntronicSNV - 2/4 1
11-88949933-A-G c.1037-11058A>G - IntronicSNV - 2/4 1
11-88949958-T-G c.1037-11033T>G - IntronicSNV - 2/4 1
11-88950126-T-A c.1037-10865T>A - IntronicSNV - 2/4 1
11-88950126-T-C c.1037-10865T>C - IntronicSNV - 2/4 1
11-88950443-T-A c.1037-10548T>A - IntronicSNV - 2/4 1
11-88950475-G-A c.1037-10516G>A - IntronicSNV - 2/4 1
11-88950833-G-A c.1037-10158G>A - IntronicSNV - 2/4 1
11-88950833-G-T c.1037-10158G>T - IntronicSNV - 2/4 1
11-88950882-T-C c.1037-10109T>C - IntronicSNV - 2/4 1
11-88950987-G-A c.1037-10004G>A - IntronicSNV - 2/4 1
11-88951332-C-T c.1037-9659C>T - IntronicSNV - 2/4 1
11-88952347-T-C c.1037-8644T>C - IntronicSNV - 2/4 1
11-88953846-T-C c.1037-7145T>C - IntronicSNV - 2/4 1
11-88954628-A-C c.1037-6363A>C - IntronicSNV - 2/4 1
11-88954628-A-T c.1037-6363A>T - IntronicSNV - 2/4 1
11-88954665-A-T c.1037-6326A>T - IntronicSNV - 2/4 1
11-88954791-C-T c.1037-6200C>T - IntronicSNV - 2/4 1
11-88955005-G-T c.1037-5986G>T - IntronicSNV - 2/4 1
11-88955147-T-A c.1037-5844T>A - IntronicSNV - 2/4 1
11-88955234-C-G c.1037-5757C>G - IntronicSNV - 2/4 1
11-88955234-C-T c.1037-5757C>T - IntronicSNV - 2/4 1
11-88957047-G-A c.1037-3944G>A - IntronicSNV - 2/4 2
11-88957385-C-T c.1037-3606C>T - IntronicSNV - 2/4 1
11-88959780-T-G c.1037-1211T>G - IntronicSNV - 2/4 1
11-88960147-G-A c.1037-844G>A - IntronicSNV - 2/4 3
11-88960981-TT-T c.1037-10del - IntronicDeletion - 2/4 1
11-88960984-T-A c.1037-7T>A - IntronicSNV - 2/4 7
11-88960990-G-A c.1037-1G>A - IntronicSNV - 2/4 2
11-88960991-G-A c.1037G>A p.Gly346Glu Missense 3/5 - 5
11-88960991-G-T c.1037G>T p.Gly346Val Missense 3/5 - 1
11-88961017-G-C c.1063G>C p.Ala355Pro Missense 3/5 - 4
11-88961018-C-A c.1064C>A p.Ala355Glu Missense 3/5 - 2
11-88961018-C-T c.1064C>T p.Ala355Val Missense 3/5 - 2
11-88961020-GG-G c.1066del p.Asp356Metfs*15 Frameshift 3/5 - 1
11-88961026-TC-AT c.1072_1073delinsAT p.Ser358Ile Missense 3/5 - 1
11-88961029-C-T c.1075C>T p.Gln359* Nonsense 3/5 - 3
11-88961030-A-T c.1076A>T p.Gln359Leu Missense 3/5 - 2
11-88961032-A-G c.1078A>G p.Ser360Gly Missense 3/5 - 2
11-88961037-C-A c.1083C>A p.Ser361Arg Missense 3/5 - 1
11-88961041-CA-AC c.1087_1088delinsAC p.His363Thr Missense 3/5 - 1
11-88961041-C-T c.1087C>T p.His363Tyr Missense 3/5 - 2
11-88961042-A-G c.1088A>G p.His363Arg Missense 3/5 - 1
11-88961044-A-C c.1090A>C p.Asn364His Missense 3/5 - 2
11-88961051-TTGCACATCT-T c.1097_1105del p.Leu366_Ile368del InFrameDeletion 3/5 - 1
11-88961053-C-T c.1099C>T p.His367Tyr Missense 3/5 - 2
11-88961054-A-G c.1100A>G p.His367Arg Missense 3/5 - 3
11-88961060-A-G c.1106A>G p.Tyr369Cys Missense 3/5 - 3
11-88961062-A-G c.1108A>G p.Met370Val Missense 3/5 - 1
11-88961063-T-C c.1109T>C p.Met370Thr Missense 3/5 - 2
11-88961064-G-A c.1110G>A p.Met370Ile Missense 3/5 - 1
11-88961065-A-G c.1111A>G p.Asn371Asp Missense 3/5 - 4
11-88961065-A-T c.1111A>T p.Asn371Tyr Missense 3/5 - 4
11-88961066-A-C c.1112A>C p.Asn371Thr Missense 3/5 - 3
11-88961067-T-C c.1113T>C p.Asn371Asn Synonymous 3/5 - 1
11-88961068-G-A c.1114G>A p.Gly372Arg Missense 3/5 - 2
11-88961069-GG-G c.1115del p.Gly372Glufs*113 Frameshift 3/5 - 1
11-88961071-AC-CT c.1117_1118delinsCT p.Thr373Leu Missense 3/5 - 1
11-88961072-C-A c.1118C>A p.Thr373Lys Missense 3/5 - 18
11-88961076-G-C c.1122G>C p.Met374Ile Missense 3/5 - 3
11-88961080-C-T c.1126C>T p.Gln376* Nonsense 3/5 - 1
11-88961084-T-C c.1130T>C p.Val377Ala Missense 3/5 - 1
11-88961086-C-A c.1132C>A p.Gln378Lys Missense 3/5 - 1
11-88961086-C-T c.1132C>T p.Gln378* Nonsense 3/5 - 2
11-88961092-ATCTGCCAACGATCCTATCTTC-A c.1138_1158del p.Ser380_Phe386del InFrameDeletion 3/5 - 1
11-88961092-T-C c.1138T>C p.Ser380Pro Missense 3/5 - 3
11-88961095-G-A c.1141G>A p.Ala381Thr Missense 3/5 - 1
11-88961100-C-A c.1146C>A p.Asn382Lys Missense 3/5 - 4
11-88961100-C-G c.1146C>G p.Asn382Lys Missense 3/5 - 2
11-88961101-G-A c.1147G>A p.Asp383Asn Missense 3/5 - 6
11-88961104-C-G c.1150C>G p.Pro384Ala Missense 3/5 - 2
11-88961118-TT-T c.1164del p.His389Thrfs*96 Frameshift 3/5 - 2
11-88961121-C-CT c.1167_1168insT p.His390Serfs*5 Frameshift 3/5 - 1
11-88961122-CA-AC c.1168_1169delinsAC p.His390Thr Missense 3/5 - 1
11-88961122-C-G c.1168C>G p.His390Asp Missense 3/5 - 5
11-88961123-A-G c.1169A>G p.His390Arg Missense 3/5 - 2
11-88961126-C-A c.1172C>A p.Ala391Glu Missense 3/5 - 1
11-88961130-TT-T c.1176del p.Phe392Leufs*93 Frameshift 3/5 - 1
11-88961131-G-T c.1177G>T p.Val393Phe Missense 3/5 - 3
11-88961131-TG-T c.1177del p.Val393Leufs*92 Frameshift 3/5 - 3
11-88961132-T-A c.1178T>A p.Val393Asp Missense 3/5 - 1
11-88961134-TG-T c.1180del p.Asp394Thrfs*91 Frameshift 3/5 - 1
11-88961138-G-A c.1184G>A p.Ser395Asn Missense 3/5 - 3
11-88961139-G-A c.1184+1G>A - IntronicSNV - 3/4 2
11-88961141-T-G c.1184+3T>G - IntronicSNV - 3/4 1
11-88961165-C-T c.1184+27C>T - IntronicSNV - 3/4 2
11-88961188-G-A c.1184+50G>A - IntronicSNV - 3/4 5
11-88962090-C-T c.1184+952C>T - IntronicSNV - 3/4 1
11-88962962-C-T c.1184+1824C>T - IntronicSNV - 3/4 1
11-88966648-C-T c.1184+5510C>T - IntronicSNV - 3/4 1
11-88966821-T-C c.1184+5683T>C - IntronicSNV - 3/4 1
11-88967990-T-A c.1184+6852T>A - IntronicSNV - 3/4 1
11-88967990-T-C c.1184+6852T>C - IntronicSNV - 3/4 1
11-88969774-T-C c.1184+8636T>C - IntronicSNV - 3/4 13
11-88970138-T-G c.1184+9000T>G - IntronicSNV - 3/4 1
11-88971373-A-G c.1184+10235A>G - IntronicSNV - 3/4 1
11-88971638-T-A c.1184+10500T>A - IntronicSNV - 3/4 1
11-88971684-C-A c.1184+10546C>A - IntronicSNV - 3/4 1
11-88971684-C-T c.1184+10546C>T - IntronicSNV - 3/4 1
11-88971704-G-A c.1184+10566G>A - IntronicSNV - 3/4 1
11-88971704-G-C c.1184+10566G>C - IntronicSNV - 3/4 1
11-88971704-G-T c.1184+10566G>T - IntronicSNV - 3/4 1
11-88972118-C-A c.1184+10980C>A - IntronicSNV - 3/4 1
11-88972118-C-G c.1184+10980C>G - IntronicSNV - 3/4 1
11-88972956-A-C c.1184+11818A>C - IntronicSNV - 3/4 2
11-88972956-A-T c.1184+11818A>T - IntronicSNV - 3/4 2
11-88974707-A-G c.1184+13569A>G - IntronicSNV - 3/4 1
11-88975107-C-T c.1184+13969C>T - IntronicSNV - 3/4 1
11-88975416-T-C c.1184+14278T>C - IntronicSNV - 3/4 1
11-88976157-T-C c.1184+15019T>C - IntronicSNV - 3/4 4
11-88976163-C-G c.1184+15025C>G - IntronicSNV - 3/4 1
11-88976163-C-T c.1184+15025C>T - IntronicSNV - 3/4 1
11-88976283-G-A c.1184+15145G>A - IntronicSNV - 3/4 1
11-88976933-T-C c.1184+15795T>C - IntronicSNV - 3/4 1
11-88977572-C-T c.1184+16434C>T - IntronicSNV - 3/4 1
11-88977586-C-A c.1184+16448C>A - IntronicSNV - 3/4 1
11-88977586-C-T c.1184+16448C>T - IntronicSNV - 3/4 1
11-88977607-C-G c.1184+16469C>G - IntronicSNV - 3/4 1
11-88978308-G-A c.1184+17170G>A - IntronicSNV - 3/4 1
11-88978983-G-C c.1184+17845G>C - IntronicSNV - 3/4 1
11-88979332-A-G c.1184+18194A>G - IntronicSNV - 3/4 1
11-88979334-A-G c.1184+18196A>G - IntronicSNV - 3/4 1
11-88979491-T-C c.1184+18353T>C - IntronicSNV - 3/4 1
11-88979846-T-C c.1184+18708T>C - IntronicSNV - 3/4 2
11-88979846-T-G c.1184+18708T>G - IntronicSNV - 3/4 2
11-88982718-T-A c.1184+21580T>A - IntronicSNV - 3/4 2
11-88982718-T-C c.1184+21580T>C - IntronicSNV - 3/4 2
11-88984624-C-G c.1184+23486C>G - IntronicSNV - 3/4 1
11-88984624-C-T c.1184+23486C>T - IntronicSNV - 3/4 1
11-88984984-C-T c.1184+23846C>T - IntronicSNV - 3/4 1
11-88991191-A-C c.1185-26750A>C - IntronicSNV - 3/4 1
11-89001126-G-C c.1185-16815G>C - IntronicSNV - 3/4 2
11-89001126-G-T c.1185-16815G>T - IntronicSNV - 3/4 2
11-89002566-A-C c.1185-15375A>C - IntronicSNV - 3/4 2
11-89003604-C-A c.1185-14337C>A - IntronicSNV - 3/4 2
11-89003604-C-T c.1185-14337C>T - IntronicSNV - 3/4 2
11-89004894-T-A c.1185-13047T>A - IntronicSNV - 3/4 2
11-89004894-T-C c.1185-13047T>C - IntronicSNV - 3/4 2
11-89005253-A-C c.1185-12688A>C - IntronicSNV - 3/4 19
11-89007922-C-T c.1185-10019C>T - IntronicSNV - 3/4 1
11-89011046-G-A c.1185-6895G>A - IntronicSNV - 3/4 110
11-89011733-A-G c.1185-6208A>G - IntronicSNV - 3/4 1
11-89012085-C-T c.1185-5856C>T - IntronicSNV - 3/4 2
11-89014355-T-C c.1185-3586T>C - IntronicSNV - 3/4 2
11-89017201-T-C c.1185-740T>C - IntronicSNV - 3/4 1
11-89017201-T-G c.1185-740T>G - IntronicSNV - 3/4 1
11-89017795-G-A c.1185-146G>A - IntronicSNV - 3/4 1
11-89017939-A-G c.1185-2A>G - IntronicSNV - 3/4 1
11-89017940-G-T c.1185-1G>T - IntronicSNV - 3/4 1
11-89017949-A-C c.1193A>C p.Glu398Ala Missense 4/5 - 1
11-89017949-A-G c.1193A>G p.Glu398Gly Missense 4/5 - 1
11-89017949-A-T c.1193A>T p.Glu398Val Missense 4/5 - 1
11-89017951-C-T c.1195C>T p.Gln399* Nonsense 4/5 - 2
11-89017952-CA-C c.1196del p.Gln399Argfs*86 Frameshift 4/5 - 1
11-89017954-TG-GC c.1198_1199delinsGC p.Trp400Ala Missense 4/5 - 1
11-89017955-G-A c.1199G>A p.Trp400* Nonsense 4/5 - 1
11-89017955-G-T c.1199G>T p.Trp400Leu Missense 4/5 - 8
11-89017956-G-T c.1200G>T p.Trp400Cys Missense 4/5 - 2
11-89017960-C-G c.1204C>G p.Arg402Gly Missense 4/5 - 3
11-89017960-CG-AC c.1204_1205delinsAC p.Arg402Thr Missense 4/5 - 1
11-89017960-C-T c.1204C>T p.Arg402* Nonsense 4/5 - 13
11-89017961-G-A c.1205G>A p.Arg402Gln Missense 4/5 - 125
11-89017961-G-T c.1205G>T p.Arg402Leu Missense 4/5 - 1
11-89017963-AA-A c.1207del p.Arg403Glyfs*82 Frameshift 4/5 - 1
11-89017963-AG-GT c.1207_1208delinsGT p.Arg403Val Missense 4/5 - 1
11-89017963-AG-TA c.1207_1208delinsTA p.Arg403* Nonsense 4/5 - 1
11-89017965-G-C c.1209G>C p.Arg403Ser Missense 4/5 - 2
11-89017965-G-T c.1209G>T p.Arg403Ser Missense 4/5 - 3
11-89017966-C-A c.1210C>A p.His404Asn Missense 4/5 - 1
11-89017967-A-C c.1211A>C p.His404Pro Missense 4/5 - 3
11-89017969-CG-GC c.1213_1214delinsGC p.Arg405Ala Missense 4/5 - 1
11-89017969-C-T c.1213C>T p.Arg405Cys Missense 4/5 - 1
11-89017970-G-T c.1214G>T p.Arg405Leu Missense 4/5 - 1
11-89017973-C-T c.1217C>T p.Pro406Leu Missense 4/5 - 24
11-89017980-A-C c.1224A>C p.Gln408His Missense 4/5 - 1
11-89017983-A-C c.1227A>C p.Glu409Asp Missense 4/5 - 1
11-89017987-T-C c.1231T>C p.Tyr411His Missense 4/5 - 3
11-89017990-C-A c.1234C>A p.Pro412Thr Missense 4/5 - 1
11-89017990-C-G c.1234C>G p.Pro412Ala Missense 4/5 - 1
11-89017991-C-T c.1235C>T p.Pro412Leu Missense 4/5 - 1
11-89017993-G-A c.1237G>A p.Glu413Lys Missense 4/5 - 2
11-89017993-G-T c.1237G>T p.Glu413* Nonsense 4/5 - 1
11-89018002-G-T c.1246G>T p.Ala416Ser Missense 4/5 - 1
11-89018006-C-A c.1250C>A p.Pro417His Missense 4/5 - 2
11-89018009-T-G c.1253T>G p.Ile418Ser Missense 4/5 - 1
11-89018011-G-A c.1255G>A p.Gly419Arg Missense 4/5 - 9
11-89018015-A-C c.1259A>C p.His420Pro Missense 4/5 - 1
11-89018015-A-G c.1259A>G p.His420Arg Missense 4/5 - 3
11-89018017-AAC-TAA c.1261_1263delinsTAA p.Asn421* Nonsense 4/5 - 1
11-89018020-C-T c.1264C>T p.Arg422Trp Missense 4/5 - 6
11-89018021-G-A c.1265G>A p.Arg422Gln Missense 4/5 - 11
11-89018021-G-T c.1265G>T p.Arg422Leu Missense 4/5 - 1
11-89018022-G-A c.1266G>A p.Arg422Arg Synonymous 4/5 - 1
11-89018027-C-T c.1271C>T p.Ser424Phe Missense 4/5 - 1
11-89018033-T-A c.1277T>A p.Met426Lys Missense 4/5 - 1
11-89018035-G-T c.1279G>T p.Val427Phe Missense 4/5 - 1
11-89018036-T-G c.1280T>G p.Val427Gly Missense 4/5 - 1
11-89018047-C-A c.1291C>A p.Pro431Thr Missense 4/5 - 3
11-89018047-CCA-TGT c.1291_1293delinsTGT p.Pro431Cys Missense 4/5 - 1
11-89018048-C-T c.1292C>T p.Pro431Leu Missense 4/5 - 2
11-89018054-A-G c.1298A>G p.Tyr433Cys Missense 4/5 - 2
11-89018055-C-G c.1299C>G p.Tyr433* Nonsense 4/5 - 1
11-89018055-C-T c.1299C>T p.Tyr433Tyr Synonymous 4/5 - 1
11-89018057-G-T c.1301G>T p.Arg434Ile Missense 4/5 - 1
11-89018059-A-G c.1303A>G p.Asn435Asp Missense 4/5 - 1
11-89018062-G-C c.1306G>C p.Gly436Arg Missense 4/5 - 2
11-89018065-G-A c.1309G>A p.Asp437Asn Missense 4/5 - 1
11-89018071-T-G c.1315T>G p.Phe439Val Missense 4/5 - 2
11-89018080-T-C c.1324T>C p.Ser442Pro Missense 4/5 - 1
11-89018081-C-A c.1325C>A p.Ser442Tyr Missense 4/5 - 1
11-89018081-C-T c.1325C>T p.Ser442Phe Missense 4/5 - 1
11-89018087-A-G c.1331A>G p.Asp444Gly Missense 4/5 - 1
11-89018092-G-A c.1336G>A p.Gly446Ser Missense 4/5 - 5
11-89018093-G-T c.1337G>T p.Gly446Val Missense 4/5 - 1
11-89018098-G-A c.1342G>A p.Asp448Asn Missense 4/5 - 4
11-89018098-G-C c.1342G>C p.Asp448His Missense 4/5 - 1
11-89018102-A-G c.1346A>G p.Tyr449Cys Missense 4/5 - 2
11-89018105-G-GGG c.1349_1350insGG p.Ser450Argfs*36 Frameshift 4/5 - 1
11-89018108-A-G c.1352A>G p.Tyr451Cys Missense 4/5 - 2
11-89018110-C-G c.1354C>G p.Leu452Val Missense 4/5 - 1
11-89018111-T-A c.1355T>A p.Leu452Gln Missense 4/5 - 1
11-89018113-C-T c.1357C>T p.Gln453* Nonsense 4/5 - 1
11-89018123-G-A c.1366+1G>A - IntronicSNV - 4/4 1
11-89018125-A-T c.1366+3A>T - IntronicSNV - 4/4 1
11-89018126-A-G c.1366+4A>G - IntronicSNV - 4/4 4
11-89018127-A-G c.1366+5A>G - IntronicSNV - 4/4 1
11-89018271-A-C c.1366+149A>C - IntronicSNV - 4/4 1
11-89018281-G-A c.1366+159G>A - IntronicSNV - 4/4 1
11-89018440-A-G c.1366+318A>G - IntronicSNV - 4/4 4
11-89018440-A-T c.1366+318A>T - IntronicSNV - 4/4 4
11-89019737-C-T c.1366+1615C>T - IntronicSNV - 4/4 2
11-89020590-T-A c.1366+2468T>A - IntronicSNV - 4/4 2
11-89020590-T-C c.1366+2468T>C - IntronicSNV - 4/4 2
11-89021065-T-C c.1366+2943T>C - IntronicSNV - 4/4 3
11-89021574-G-A c.1366+3452G>A - IntronicSNV - 4/4 11
11-89021574-G-T c.1366+3452G>T - IntronicSNV - 4/4 11
11-89022446-G-A c.1366+4324G>A - IntronicSNV - 4/4 2
11-89022673-G-C c.1366+4551G>C - IntronicSNV - 4/4 2
11-89022673-G-T c.1366+4551G>T - IntronicSNV - 4/4 2
11-89022679-C-G c.1366+4557C>G - IntronicSNV - 4/4 2
11-89024455-A-G c.1367-3856A>G - IntronicSNV - 4/4 2
11-89026407-T-A c.1367-1904T>A - IntronicSNV - 4/4 2
11-89028043-T-G c.1367-268T>G - IntronicSNV - 4/4 12
11-89028323-T-C c.1379T>C p.Phe460Ser Missense 5/5 - 1
11-89028323-TTT-T c.1379_1380del p.Phe460Serfs*5 Frameshift 5/5 - 1
11-89028324-TT-T c.1380del p.Gln461Lysfs*24 Frameshift 5/5 - 1
11-89028336-T-TT c.1392dup p.Lys465* Nonsense 5/5 - 2
11-89028337-A-AT c.1393_1394insT p.Lys465Ilefs*45 Frameshift 5/5 - 1
11-89028356-C-T c.1412C>T p.Ala471Val Missense 5/5 - 1
11-89028357-G-A c.1413G>A p.Ala471Ala Synonymous 5/5 - 1
11-89028357-G-C c.1413G>C p.Ala471Ala Synonymous 5/5 - 1
11-89028366-C-A c.1422C>A p.Ile474Ile Synonymous 5/5 - 1
11-89028366-C-T c.1422C>T p.Ile474Ile Synonymous 5/5 - 1
11-89028367-CTGGTCATGGCT-C c.1423_1433del p.Trp475Profs*31 Frameshift 5/5 - 2
11-89028368-TGGTCATGGCT-T c.1424_1433del p.Trp475Serfs*7 Frameshift 5/5 - 1
11-89028369-G-A c.1425G>A p.Trp475* Nonsense 5/5 - 2
11-89028385-G-A c.1441G>A p.Ala481Thr Missense 5/5 - 1
11-89028386-C-A c.1442C>A p.Ala481Glu Missense 5/5 - 1
11-89028388-G-A c.1444G>A p.Ala482Thr Missense 5/5 - 1
11-89028397-G-A c.1453G>A p.Gly485Arg Missense 5/5 - 1
11-89028398-G-C c.1454G>C p.Gly485Ala Missense 5/5 - 1
11-89028400-GG-G c.1456del p.Ala486Profs*11 Frameshift 5/5 - 1
11-89028409-A-T c.1465A>T p.Thr489Ser Missense 5/5 - 1
11-89028410-C-G c.1466C>G p.Thr489Ser Missense 5/5 - 1
11-89028411-T-TT c.1467dup p.Ala490Cysfs*20 Frameshift 5/5 - 6
11-89028412-GC-TT c.1468_1469delinsTT p.Ala490Phe Missense 5/5 - 1
11-89028413-C-A c.1469C>A p.Ala490Asp Missense 5/5 - 1
11-89028413-C-G c.1469C>G p.Ala490Gly Missense 5/5 - 1
11-89028434-G-T c.1490G>T p.Ser497Ile Missense 5/5 - 1
11-89028445-C-CC c.1501dup p.Arg501Profs*9 Frameshift 5/5 - 2
11-89028445-CGT-TGA c.1501_1503delinsTGA p.Arg501* Nonsense 5/5 - 1
11-89028445-CGT-TGG c.1501_1503delinsTGG p.Arg501Trp Missense 5/5 - 1
11-89028453-G-C c.1509G>C p.Lys503Asn Missense 5/5 - 1
11-89028453-G-T c.1509G>T p.Lys503Asn Missense 5/5 - 1
11-89028457-A-C c.1513A>C p.Lys505Gln Missense 5/5 - 1
11-89028460-C-T c.1516C>T p.Gln506* Nonsense 5/5 - 1
11-89028478-C-G c.1534C>G p.Gln512Glu Missense 5/5 - 1
11-89028478-C-T c.1534C>T p.Gln512* Nonsense 5/5 - 1
11-89028482-C-G c.1538C>G p.Pro513Arg Missense 5/5 - 1