GLA galactosidase alpha

Canonical transcript: NM_000169

815 unique variant annotations were identified in 339 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
X-100652811-TTT-T c.1277_1278del p.Lys426Argfs*? Frameshift 7/7 - 4
X-100652812-TT-T c.1278del p.Asp427Thrfs*? Frameshift 7/7 - 1
X-100652832-T-C c.1255A>G p.Asn419Asp Missense 7/7 - 2
X-100652834-T-C c.1253A>G p.Glu418Gly Missense 7/7 - 3
X-100652837-A-G c.1250T>C p.Leu417Pro Missense 7/7 - 1
X-100652843-A-G c.1244T>C p.Leu415Pro Missense 7/7 - 17
X-100652844-G-A c.1243C>T p.Leu415Phe Missense 7/7 - 3
X-100652849-A-G c.1238T>C p.Val413Ala Missense 7/7 - 1
X-100652851-CAG-C c.1235_1236del p.Thr412Serfs*? Frameshift 7/7 - 7
X-100652853-T-G c.1234A>C p.Thr412Pro Missense 7/7 - 1
X-100652855-C-T c.1232G>A p.Gly411Asp Missense 7/7 - 3
X-100652856-C-T c.1231G>A p.Gly411Ser Missense 7/7 - 1
X-100652858-G-A c.1229C>T p.Thr410Ile Missense 7/7 - 2
X-100652859-T-C c.1228A>G p.Thr410Ala Missense 7/7 - 5
X-100652859-T-G c.1228A>C p.Thr410Pro Missense 7/7 - 1
X-100652862-G-A c.1225C>T p.Pro409Ser Missense 7/7 - 2
X-100652862-G-C c.1225C>G p.Pro409Ala Missense 7/7 - 3
X-100652862-G-T c.1225C>A p.Pro409Thr Missense 7/7 - 2
X-100652874-T-G c.1213A>C p.Ser405Arg Missense 7/7 - 1
X-100652876-TCTT-T c.1212_1214del p.Arg404del InFrameDeletion 7/7 - 3
X-100652879-A-G c.1208T>C p.Leu403Ser Missense 7/7 - 6
X-100652885-G-C c.1202C>G p.Ser401* Nonsense 7/7 - 1
X-100652885-G-T c.1202C>A p.Ser401* Nonsense 7/7 - 1
X-100652890-C-T c.1197G>A p.Trp399* Nonsense 7/7 - 6
X-100652891-C-G c.1196G>C p.Trp399Ser Missense 7/7 - 3
X-100652891-C-T c.1196G>A p.Trp399* Nonsense 7/7 - 7
X-100652894-T-G c.1193A>C p.Glu398Ala Missense 7/7 - 1
X-100652894-TT-T c.1194del p.Glu398Aspfs*6 Frameshift 7/7 - 3
X-100652895-C-A c.1192G>T p.Glu398* Nonsense 7/7 - 4
X-100652895-C-T c.1192G>A p.Glu398Lys Missense 7/7 - 1
X-100652898-A-AA c.1189dup p.Tyr397Leufs*2 Frameshift 7/7 - 1
X-100652900-A-T c.1187T>A p.Phe396Tyr Missense 7/7 - 2
X-100652903-C-G c.1184G>C p.Gly395Ala Missense 7/7 - 5
X-100652904-CCTAGCTTCC-C c.1177_1185del p.Lys393_Gly395del InFrameDeletion 7/7 - 1
X-100652905-CT-C c.1182del p.Phe396Serfs*8 Frameshift 7/7 - 1
X-100652916-T-C c.1171A>G p.Lys391Glu Missense 7/7 - 2
X-100652921-G-A c.1166C>T p.Pro389Leu Missense 7/7 - 1
X-100652922-G-C c.1165C>G p.Pro389Ala Missense 7/7 - 3
X-100652927-A-G c.1160T>C p.Leu387Pro Missense 7/7 - 1
X-100652931-G-A c.1156C>T p.Gln386* Nonsense 7/7 - 1
X-100652934-T-C c.1153A>G p.Thr385Ala Missense 7/7 - 7
X-100652934-T-G c.1153A>C p.Thr385Pro Missense 7/7 - 1
X-100652936-A-T c.1151T>A p.Ile384Asn Missense 7/7 - 1
X-100652938-G-C c.1149C>G p.Phe383Leu Missense 7/7 - 1
X-100652938-G-T c.1149C>A p.Phe383Leu Missense 7/7 - 1
X-100652940-A-G c.1147T>C p.Phe383Leu Missense 7/7 - 1
X-100652941-G-C c.1146C>G p.Cys382Trp Missense 7/7 - 1
X-100652941-G-T c.1146C>A p.Cys382* Nonsense 7/7 - 2
X-100652942-C-T c.1145G>A p.Cys382Tyr Missense 7/7 - 2
X-100652954-C-A c.1133G>T p.Cys378Phe Missense 7/7 - 1
X-100652954-C-T c.1133G>A p.Cys378Tyr Missense 7/7 - 1
X-100652955-A-G c.1132T>C p.Cys378Arg Missense 7/7 - 1
X-100652959-CCACTCC-C c.1124_1129del p.Gly375_Val376del InFrameDeletion 7/7 - 1
X-100652963-C-T c.1124G>A p.Gly375Glu Missense 7/7 - 4
X-100652967-TTACCCAGGGAAGCAACTGCGATGGTATAAGAGCGAGGTCCACCA-T c.1077_1120del p.Gly360Argfs*5 Frameshift 7/7 - 1
X-100652969-C-T c.1118G>A p.Gly373Asp Missense 7/7 - 5
X-100652970-C-G c.1117G>C p.Gly373Arg Missense 7/7 - 1
X-100652970-C-T c.1117G>A p.Gly373Ser Missense 7/7 - 6
X-100652971-CC-C c.1118del p.Gly373Valfs*18 Frameshift 7/7 - 1
X-100652972-A-C c.1115T>G p.Leu372Arg Missense 7/7 - 1
X-100652972-A-G c.1115T>C p.Leu372Pro Missense 7/7 - 2
X-100652985-C-T c.1102G>A p.Ala368Thr Missense 7/7 - 5
X-100652987-A-AA c.1100dup p.Ala368Argfs*7 Frameshift 7/7 - 1
X-100652990-GG-G c.1098del p.Ile367Serfs*24 Frameshift 7/7 - 1
X-100652992-A-C c.1095T>G p.Tyr365* Nonsense 7/7 - 5
X-100652992-A-G c.1095T>C p.Tyr365Tyr Synonymous 7/7 - 1
X-100652992-A-T c.1095T>A p.Tyr365* Nonsense 7/7 - 6
X-100652992-TA-T c.1095del p.Tyr365* Frameshift 7/7 - 2
X-100652999-C-T c.1088G>A p.Arg363His Missense 7/7 - 12
X-100653000-G-A c.1087C>T p.Arg363Cys Missense 7/7 - 2
X-100653002-G-A c.1085C>T p.Pro362Leu Missense 7/7 - 1
X-100653005-TCCACCAATCTCCTGCC-T c.1067_1082del p.Arg356Hisfs*30 Frameshift 7/7 - 1
X-100653006-CC-C c.1082del p.Gly361Aspfs*30 Frameshift 7/7 - 1
X-100653006-C-G c.1081G>C p.Gly361Arg Missense 7/7 - 2
X-100653006-C-T c.1081G>A p.Gly361Arg Missense 7/7 - 2
X-100653008-ACCA-A c.1080_1082del p.Gly361del InFrameDeletion 7/7 - 1
X-100653009-C-A c.1078G>T p.Gly360Cys Missense 7/7 - 4
X-100653009-C-T c.1078G>A p.Gly360Ser Missense 7/7 - 2
X-100653010-CAATCTCCTGCC-C c.1069_1079del p.Gln357Trpfs*14 Frameshift 7/7 - 1
X-100653011-A-G c.1076T>C p.Ile359Thr Missense 7/7 - 1
X-100653014-T-C c.1073A>G p.Glu358Gly Missense 7/7 - 2
X-100653014-T-G c.1073A>C p.Glu358Ala Missense 7/7 - 2
X-100653015-C-T c.1072G>A p.Glu358Lys Missense 7/7 - 2
X-100653015-TCCT-T c.1072_1074del p.Glu358del InFrameDeletion 7/7 - 5
X-100653018-G-A c.1069C>T p.Gln357* Nonsense 7/7 - 3
X-100653020-C-T c.1067G>A p.Arg356Gln Missense 7/7 - 8
X-100653021-G-A c.1066C>T p.Arg356Trp Missense 7/7 - 12
X-100653021-G-C c.1066C>G p.Arg356Gly Missense 7/7 - 3
X-100653022-G-T c.1065C>A p.Asn355Lys Missense 7/7 - 1
X-100653026-A-T c.1061T>A p.Ile354Lys Missense 7/7 - 5
X-100653032-G-T c.1055C>A p.Ala352Asp Missense 7/7 - 1
X-100653033-C-G c.1054G>C p.Ala352Pro Missense 7/7 - 2
X-100653039-C-G c.1048G>C p.Ala350Pro Missense 7/7 - 1
X-100653039-C-T c.1048G>A p.Ala350Thr Missense 7/7 - 1
X-100653041-C-T c.1046G>A p.Trp349* Nonsense 7/7 - 5
X-100653042-A-G c.1045T>C p.Trp349Arg Missense 7/7 - 1
X-100653042-A-T c.1045T>A p.Trp349Arg Missense 7/7 - 1
X-100653045-C-CC c.1042dup p.Ala348Glyfs*27 Frameshift 7/7 - 2
X-100653045-C-G c.1042G>C p.Ala348Pro Missense 7/7 - 1
X-100653053-G-C c.1034C>G p.Ser345* Nonsense 7/7 - 6
X-100653054-A-G c.1033T>C p.Ser345Pro Missense 7/7 - 3
X-100653056-A-G c.1031T>C p.Leu344Pro Missense 7/7 - 2
X-100653058-GAG-G c.1033_1034del p.Ser345Argfs*29 Frameshift 7/7 - 4
X-100653059-G-A c.1028C>T p.Pro343Leu Missense 7/7 - 2
X-100653062-C-A c.1025G>T p.Arg342Leu Missense 7/7 - 1
X-100653062-C-G c.1025G>C p.Arg342Pro Missense 7/7 - 1
X-100653062-C-T c.1025G>A p.Arg342Gln Missense 7/7 - 22
X-100653063-G-A c.1024C>T p.Arg342* Nonsense 7/7 - 6
X-100653063-G-C c.1024C>G p.Arg342Gly Missense 7/7 - 1
X-100653064-T-G c.1023A>C p.Glu341Asp Missense 7/7 - 5
X-100653065-T-C c.1022A>G p.Glu341Gly Missense 7/7 - 1
X-100653066-C-A c.1021G>T p.Glu341* Nonsense 7/7 - 1
X-100653066-C-T c.1021G>A p.Glu341Lys Missense 7/7 - 1
X-100653067-C-T c.1020G>A p.Trp340* Nonsense 7/7 - 6
X-100653068-CC-C c.1021del p.Glu341Asnfs*7 Frameshift 7/7 - 1
X-100653068-C-G c.1019G>C p.Trp340Ser Missense 7/7 - 1
X-100653068-C-T c.1019G>A p.Trp340* Nonsense 7/7 - 6
X-100653069-A-G c.1018T>C p.Trp340Arg Missense 7/7 - 1
X-100653069-A-T c.1018T>A p.Trp340Arg Missense 7/7 - 1
X-100653071-A-C c.1016T>G p.Val339Gly Missense 7/7 - 1
X-100653074-T-G c.1013A>C p.Glu338Ala Missense 7/7 - 1
X-100653075-C-A c.1012G>T p.Glu338* Nonsense 7/7 - 1
X-100653075-C-T c.1012G>A p.Glu338Lys Missense 7/7 - 1
X-100653109-G-A c.1000-22C>T - IntronicSNV - 6/6 8
X-100653109-G-C c.1000-22C>G - IntronicSNV - 6/6 4
X-100653356-A-G c.999+2T>C - IntronicSNV - 6/6 1
X-100653360-TGTCT-T c.996_999del p.Gln333Glufs*14 SpliceDonorDeletion 6/7 - 2
X-100653370-G-C c.987C>G p.Tyr329* Nonsense 6/7 - 1
X-100653370-G-T c.987C>A p.Tyr329* Nonsense 6/7 - 1
X-100653374-C-A c.983G>T p.Gly328Val Missense 6/7 - 1
X-100653374-C-G c.983G>C p.Gly328Ala Missense 6/7 - 5
X-100653374-C-T c.983G>A p.Gly328Glu Missense 6/7 - 1
X-100653375-C-A c.982G>T p.Gly328Trp Missense 6/7 - 1
X-100653375-C-G c.982G>C p.Gly328Arg Missense 6/7 - 7
X-100653375-C-T c.982G>A p.Gly328Arg Missense 6/7 - 6
X-100653377-T-C c.980A>G p.Gln327Arg Missense 6/7 - 1
X-100653378-G-A c.979C>T p.Gln327* Nonsense 6/7 - 2
X-100653378-G-C c.979C>G p.Gln327Glu Missense 6/7 - 2
X-100653378-G-T c.979C>A p.Gln327Lys Missense 6/7 - 1
X-100653379-C-T c.978G>A p.Lys326Lys Synonymous 6/7 - 2
X-100653383-C-T c.974G>A p.Gly325Asp Missense 6/7 - 1
X-100653384-C-G c.973G>C p.Gly325Arg Missense 6/7 - 2
X-100653384-C-T c.973G>A p.Gly325Ser Missense 6/7 - 4
X-100653390-G-T c.967C>A p.Pro323Thr Missense 6/7 - 2
X-100653391-G-C c.966C>G p.Asp322Glu Missense 6/7 - 5
X-100653391-G-T c.966C>A p.Asp322Glu Missense 6/7 - 5
X-100653394-CC-C c.964del p.Asp322Thrfs*26 Frameshift 6/7 - 1
X-100653395-T-C c.962A>G p.Gln321Arg Missense 6/7 - 1
X-100653396-G-A c.961C>T p.Gln321* Nonsense 6/7 - 1
X-100653396-G-C c.961C>G p.Gln321Glu Missense 6/7 - 2
X-100653397-A-C c.960T>G p.Asn320Lys Missense 6/7 - 2
X-100653398-T-A c.959A>T p.Asn320Ile Missense 6/7 - 2
X-100653399-T-A c.958A>T p.Asn320Tyr Missense 6/7 - 3
X-100653401-A-G c.956T>C p.Ile319Thr Missense 6/7 - 3
X-100653405-GC-G c.952del p.Ala318Profs*30 Frameshift 6/7 - 1
X-100653407-A-C c.950T>G p.Ile317Ser Missense 6/7 - 1
X-100653407-A-G c.950T>C p.Ile317Thr Missense 6/7 - 6
X-100653410-A-C c.947T>G p.Val316Gly Missense 6/7 - 2
X-100653410-A-G c.947T>C p.Val316Ala Missense 6/7 - 1
X-100653410-A-T c.947T>A p.Val316Glu Missense 6/7 - 1
X-100653411-AC-A c.946del p.Val316* Frameshift 6/7 - 1
X-100653411-C-T c.946G>A p.Val316Ile Missense 6/7 - 3
X-100653419-TC-AC c.938delinsT p.Asp313Val Missense 6/7 - 1
X-100653420-C-A c.937G>T p.Asp313Tyr Missense 6/7 - 65
X-100653420-C-T c.937G>A p.Asp313Asn Missense 6/7 - 1
X-100653422-T-C c.935A>G p.Gln312Arg Missense 6/7 - 3
X-100653425-A-G c.932T>C p.Leu311Pro Missense 6/7 - 1
X-100653426-G-C c.931C>G p.Leu311Val Missense 6/7 - 1
X-100653429-AGAGCTTTGGCTTGAGGGCTGA-A c.910_930del p.Ser304_Leu310del InFrameDeletion 6/7 - 1
X-100653429-G-A c.928C>T p.Leu310Phe Missense 6/7 - 3
X-100653431-G-C c.926C>G p.Ala309Gly Missense 6/7 - 1
X-100653433-T-G c.924A>C p.Lys308Asn Missense 6/7 - 1
X-100653435-TTGGCTTGAGGGCTGAT-T c.908_923del p.Ile303Lysfs*9 Frameshift 6/7 - 1
X-100653441-G-A c.916C>T p.Gln306* Nonsense 6/7 - 1
X-100653449-A-G c.908T>C p.Ile303Thr Missense 6/7 - 1
X-100653450-T-A c.907A>T p.Ile303Phe Missense 6/7 - 1
X-100653454-T-TGACA c.902_903insTGTC p.His302Valfs*14 Frameshift 6/7 - 1
X-100653455-C-A c.902G>T p.Arg301Leu Missense 6/7 - 1
X-100653455-C-G c.902G>C p.Arg301Pro Missense 6/7 - 5
X-100653455-C-T c.902G>A p.Arg301Gln Missense 6/7 - 57
X-100653456-G-A c.901C>T p.Arg301* Nonsense 6/7 - 11
X-100653456-G-C c.901C>G p.Arg301Gly Missense 6/7 - 8
X-100653458-A-G c.899T>C p.Leu300Pro Missense 6/7 - 10
X-100653459-G-A c.898C>T p.Leu300Phe Missense 6/7 - 1
X-100653463-A-C c.894T>G p.Asn298Lys Missense 6/7 - 3
X-100653463-A-T c.894T>A p.Asn298Lys Missense 6/7 - 3
X-100653464-T-C c.893A>G p.Asn298Ser Missense 6/7 - 1
X-100653465-T-G c.892A>C p.Asn298His Missense 6/7 - 1
X-100653467-G-A c.890C>T p.Ser297Phe Missense 6/7 - 3
X-100653467-G-C c.890C>G p.Ser297Cys Missense 6/7 - 2
X-100653467-G-T c.890C>A p.Ser297Tyr Missense 6/7 - 1
X-100653469-C-T c.888G>A p.Met296Ile Missense 6/7 - 18
X-100653470-A-G c.887T>C p.Met296Thr Missense 6/7 - 1
X-100653470-CAT-C c.886_887del p.Met296Valfs*2 Frameshift 6/7 - 1
X-100653471-T-A c.886A>T p.Met296Leu Missense 6/7 - 1
X-100653471-T-C c.886A>G p.Met296Val Missense 6/7 - 6
X-100653471-T-G c.886A>C p.Met296Leu Missense 6/7 - 1
X-100653473-A-C c.884T>G p.Phe295Cys Missense 6/7 - 7
X-100653476-A-C c.881T>G p.Leu294* Nonsense 6/7 - 1
X-100653476-A-G c.881T>C p.Leu294Ser Missense 6/7 - 1
X-100653476-A-T c.881T>A p.Leu294* Nonsense 6/7 - 1
X-100653479-G-A c.878C>T p.Pro293Leu Missense 6/7 - 1
X-100653480-G-A c.877C>T p.Pro293Ser Missense 6/7 - 2
X-100653480-G-C c.877C>G p.Pro293Ala Missense 6/7 - 1
X-100653480-G-T c.877C>A p.Pro293Thr Missense 6/7 - 3
X-100653482-G-A c.875C>T p.Ala292Val Missense 6/7 - 2
X-100653483-C-G c.874G>C p.Ala292Pro Missense 6/7 - 1
X-100653483-C-T c.874G>A p.Ala292Thr Missense 6/7 - 5
X-100653486-C-T c.871G>A p.Ala291Thr Missense 6/7 - 2
X-100653487-C-T c.870G>A p.Met290Ile Missense 6/7 - 4
X-100653488-A-G c.869T>C p.Met290Thr Missense 6/7 - 1
X-100653489-T-A c.868A>T p.Met290Leu Missense 6/7 - 1
X-100653489-T-C c.868A>G p.Met290Val Missense 6/7 - 1
X-100653489-T-G c.868A>C p.Met290Leu Missense 6/7 - 1
X-100653492-T-A c.865A>T p.Ile289Phe Missense 6/7 - 1
X-100653492-T-C c.865A>G p.Ile289Val Missense 6/7 - 1
X-100653494-G-T c.863C>A p.Ala288Asp Missense 6/7 - 4
X-100653495-C-G c.862G>C p.Ala288Pro Missense 6/7 - 2
X-100653496-C-G c.861G>C p.Trp287Cys Missense 6/7 - 4
X-100653496-C-T c.861G>A p.Trp287* Nonsense 6/7 - 1
X-100653497-C-A c.860G>T p.Trp287Leu Missense 6/7 - 1
X-100653497-C-G c.860G>C p.Trp287Ser Missense 6/7 - 1
X-100653498-A-C c.859T>G p.Trp287Gly Missense 6/7 - 1
X-100653503-G-T c.854C>A p.Ala285Asp Missense 6/7 - 2
X-100653504-C-G c.853G>C p.Ala285Pro Missense 6/7 - 1
X-100653506-A-G c.851T>C p.Met284Thr Missense 6/7 - 4
X-100653507-T-C c.850A>G p.Met284Val Missense 6/7 - 1
X-100653509-T-C c.848A>G p.Gln283Arg Missense 6/7 - 1
X-100653509-T-G c.848A>C p.Gln283Pro Missense 6/7 - 2
X-100653510-G-A c.847C>T p.Gln283* Nonsense 6/7 - 2
X-100653511-GAG-G c.846_847del p.Gln283Aspfs*15 Frameshift 6/7 - 1
X-100653512-G-A c.845C>T p.Thr282Ile Missense 6/7 - 2
X-100653512-G-T c.845C>A p.Thr282Asn Missense 6/7 - 1
X-100653513-T-C c.844A>G p.Thr282Ala Missense 6/7 - 1
X-100653517-T-A c.840A>T p.Gln280His Missense 6/7 - 2
X-100653519-G-T c.838C>A p.Gln280Lys Missense 6/7 - 4
X-100653520-C-G c.837G>C p.Gln279His Missense 6/7 - 3
X-100653521-T-C c.836A>G p.Gln279Arg Missense 6/7 - 4
X-100653522-G-A c.835C>T p.Gln279* Nonsense 6/7 - 1
X-100653522-G-C c.835C>G p.Gln279Glu Missense 6/7 - 12
X-100653522-G-T c.835C>A p.Gln279Lys Missense 6/7 - 4
X-100653523-A-T c.834T>A p.Asn278Lys Missense 6/7 - 1
X-100653526-C-T c.831G>A p.Trp277* Nonsense 6/7 - 2
X-100653527-C-T c.830G>A p.Trp277* Nonsense 6/7 - 2
X-100653530-C-G c.827G>C p.Ser276Thr Missense 6/7 - 1
X-100653530-C-T c.827G>A p.Ser276Asn Missense 6/7 - 1
X-100653531-T-C c.826A>G p.Ser276Gly Missense 6/7 - 3
X-100653532-TG-T c.825del p.Ser276Alafs*6 Frameshift 6/7 - 1
X-100653533-A-T c.824T>A p.Leu275His Missense 6/7 - 1
X-100653534-G-A c.823C>T p.Leu275Phe Missense 6/7 - 2
X-100653537-C-G c.820G>C p.Gly274Arg Missense 6/7 - 1
X-100653537-C-T c.820G>A p.Gly274Ser Missense 6/7 - 1
X-100653539-A-G c.818T>C p.Phe273Ser Missense 6/7 - 1
X-100653540-A-G c.817T>C p.Phe273Leu Missense 6/7 - 1
X-100653541-G-T c.816C>A p.Asn272Lys Missense 6/7 - 5
X-100653542-T-C c.815A>G p.Asn272Ser Missense 6/7 - 5
X-100653545-C-A c.812G>T p.Gly271Val Missense 6/7 - 2
X-100653545-C-G c.812G>C p.Gly271Ala Missense 6/7 - 2
X-100653545-C-T c.812G>A p.Gly271Asp Missense 6/7 - 1
X-100653546-C-A c.811G>T p.Gly271Cys Missense 6/7 - 3
X-100653546-C-T c.811G>A p.Gly271Ser Missense 6/7 - 4
X-100653548-AATCACTAACTGAGAAAAAGAATGAAATAATTCAAACAAGAGAGGAGGAAACATTCTTAA-A c.802-50_810del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 6/7 5/6 1
X-100653548-A-G c.809T>C p.Ile270Thr Missense 6/7 - 4
X-100653551-A-C c.806T>G p.Val269Gly Missense 6/7 - 1
X-100653551-A-G c.806T>C p.Val269Ala Missense 6/7 - 6
X-100653551-A-T c.806T>A p.Val269Glu Missense 6/7 - 2
X-100653552-C-G c.805G>C p.Val269Leu Missense 6/7 - 1
X-100653552-C-T c.805G>A p.Val269Met Missense 6/7 - 6
X-100653554-A-G c.803T>C p.Leu268Ser Missense 6/7 - 3
X-100653554-TAACT-T c.803_806del p.Leu268* SpliceAcceptorDeletion 6/7 5/6 2
X-100653555-AA-A c.803del p.Leu268* Frameshift 6/7 - 2
X-100653556-C-G c.802-1G>C - IntronicSNV - 5/6 1
X-100653557-CTG-C c.802-3_802-2del - IntronicDeletion - 5/6 2
X-100653752-A-G c.801+21T>C - IntronicSNV - 5/6 1
X-100653772-C-T c.801+1G>A - IntronicSNV - 5/6 2
X-100653773-C-T c.801G>A p.Met267Ile Missense 5/7 - 3
X-100653774-A-C c.800T>G p.Met267Arg Missense 5/7 - 5
X-100653774-A-G c.800T>C p.Met267Thr Missense 5/7 - 3
X-100653776-A-T c.798T>A p.Asp266Glu Missense 5/7 - 3
X-100653777-T-A c.797A>T p.Asp266Val Missense 5/7 - 3
X-100653777-T-G c.797A>C p.Asp266Ala Missense 5/7 - 3
X-100653778-C-A c.796G>T p.Asp266Tyr Missense 5/7 - 1
X-100653778-C-G c.796G>C p.Asp266His Missense 5/7 - 1
X-100653778-C-T c.796G>A p.Asp266Asn Missense 5/7 - 4
X-100653780-G-A c.794C>T p.Pro265Leu Missense 5/7 - 2
X-100653781-G-A c.793C>T p.Pro265Ser Missense 5/7 - 1
X-100653783-T-A c.791A>T p.Asp264Val Missense 5/7 - 4
X-100653783-T-G c.791A>C p.Asp264Ala Missense 5/7 - 1
X-100653784-C-A c.790G>T p.Asp264Tyr Missense 5/7 - 7
X-100653786-T-C c.788A>G p.Asn263Ser Missense 5/7 - 3
X-100653788-C-G c.786G>C p.Trp262Cys Missense 5/7 - 3
X-100653789-C-A c.785G>T p.Trp262Leu Missense 5/7 - 1
X-100653789-CC-C c.786del p.Trp262* Frameshift 5/7 - 1
X-100653789-C-T c.785G>A p.Trp262* Nonsense 5/7 - 4
X-100653792-C-A c.782G>T p.Gly261Val Missense 5/7 - 4
X-100653792-C-T c.782G>A p.Gly261Asp Missense 5/7 - 2
X-100653793-C-A c.781G>T p.Gly261Cys Missense 5/7 - 1
X-100653795-C-G c.779G>C p.Gly260Ala Missense 5/7 - 3
X-100653795-C-T c.779G>A p.Gly260Glu Missense 5/7 - 3
X-100653796-C-T c.778G>A p.Gly260Arg Missense 5/7 - 1
X-100653797-CT-C c.777del p.Gly261Valfs*8 Frameshift 5/7 - 1
X-100653798-G-A c.776C>T p.Pro259Leu Missense 5/7 - 1
X-100653798-G-C c.776C>G p.Pro259Arg Missense 5/7 - 9
X-100653799-G-A c.775C>T p.Pro259Ser Missense 5/7 - 1
X-100653801-C-A c.773G>T p.Gly258Val Missense 5/7 - 2
X-100653802-C-A c.772G>T p.Gly258* Nonsense 5/7 - 2
X-100653802-C-G c.772G>C p.Gly258Arg Missense 5/7 - 2
X-100653809-A-T c.765T>A p.Asp255Glu Missense 5/7 - 1
X-100653816-A-C c.758T>G p.Ile253Ser Missense 5/7 - 3
X-100653816-A-G c.758T>C p.Ile253Thr Missense 5/7 - 7
X-100653819-C-G c.755G>C p.Arg252Thr Missense 5/7 - 2
X-100653819-C-T c.755G>A p.Arg252Lys Missense 5/7 - 1
X-100653823-C-A c.751G>T p.Glu251* Nonsense 5/7 - 2
X-100653825-T-G c.749A>C p.Gln250Pro Missense 5/7 - 3
X-100653826-G-A c.748C>T p.Gln250* Nonsense 5/7 - 2
X-100653827-G-T c.747C>A p.Asn249Lys Missense 5/7 - 2
X-100653831-A-G c.743T>C p.Phe248Ser Missense 5/7 - 1
X-100653835-A-G c.739T>C p.Ser247Pro Missense 5/7 - 1
X-100653837-G-A c.737C>T p.Thr246Ile Missense 5/7 - 1
X-100653840-CA-GT c.733_734delinsAC p.Trp245Thr Missense 5/7 - 1
X-100653840-C-T c.734G>A p.Trp245* Nonsense 5/7 - 4
X-100653841-CA-C c.733del p.Trp245Glyfs*24 Frameshift 5/7 - 1
X-100653844-C-G c.730G>C p.Asp244His Missense 5/7 - 1
X-100653844-C-T c.730G>A p.Asp244Asn Missense 5/7 - 5
X-100653845-C-G c.729G>C p.Leu243Phe Missense 5/7 - 5
X-100653846-A-G c.728T>C p.Leu243Ser Missense 5/7 - 1
X-100653849-A-G c.725T>C p.Ile242Thr Missense 5/7 - 4
X-100653849-A-T c.725T>A p.Ile242Asn Missense 5/7 - 2
X-100653850-T-A c.724A>T p.Ile242Phe Missense 5/7 - 1
X-100653850-T-C c.724A>G p.Ile242Val Missense 5/7 - 2
X-100653851-A-AA c.723dup p.Ile242Tyrfs*8 Frameshift 5/7 - 2
X-100653852-C-T c.722G>A p.Ser241Asn Missense 5/7 - 3
X-100653856-TTT-T c.718_719del p.Lys240Glufs*9 Frameshift 5/7 - 12
X-100653857-T-C c.717A>G p.Ile239Met Missense 5/7 - 1
X-100653858-A-G c.716T>C p.Ile239Thr Missense 5/7 - 1
X-100653860-A-C c.714T>G p.Ser238Arg Missense 5/7 - 1
X-100653860-A-T c.714T>A p.Ser238Arg Missense 5/7 - 1
X-100653862-T-G c.712A>C p.Ser238Arg Missense 5/7 - 1
X-100653861-C-T c.713G>A p.Ser238Asn Missense 5/7 - 3
X-100653866-C-G c.708G>C p.Trp236Cys Missense 5/7 - 5
X-100653867-C-A c.707G>T p.Trp236Leu Missense 5/7 - 1
X-100653867-C-G c.707G>C p.Trp236Ser Missense 5/7 - 1
X-100653867-C-T c.707G>A p.Trp236* Nonsense 5/7 - 3
X-100653868-A-G c.706T>C p.Trp236Arg Missense 5/7 - 3
X-100653869-GGA-ATG c.703_705delinsCAT p.Ser235His Missense 5/7 - 1
X-100653870-G-A c.704C>T p.Ser235Phe Missense 5/7 - 1
X-100653870-G-C c.704C>G p.Ser235Cys Missense 5/7 - 2
X-100653872-A-C c.702T>G p.Asp234Glu Missense 5/7 - 1
X-100653872-A-T c.702T>A p.Asp234Glu Missense 5/7 - 1
X-100653874-C-A c.700G>T p.Asp234Tyr Missense 5/7 - 1
X-100653879-A-G c.695T>C p.Ile232Thr Missense 5/7 - 5
X-100653882-T-A c.692A>T p.Asp231Val Missense 5/7 - 1
X-100653882-T-C c.692A>G p.Asp231Gly Missense 5/7 - 3
X-100653883-C-A c.691G>T p.Asp231Tyr Missense 5/7 - 1
X-100653883-C-T c.691G>A p.Asp231Asn Missense 5/7 - 5
X-100653883-TC-T c.691del p.Asp231Thrfs*9 Frameshift 5/7 - 1
X-100653886-C-T c.688G>A p.Ala230Thr Missense 5/7 - 3
X-100653891-T-C c.683A>G p.Asn228Ser Missense 5/7 - 3
X-100653894-C-A c.680G>T p.Arg227Leu Missense 5/7 - 1
X-100653894-C-G c.680G>C p.Arg227Pro Missense 5/7 - 3
X-100653894-C-T c.680G>A p.Arg227Gln Missense 5/7 - 17
X-100653895-G-A c.679C>T p.Arg227* Nonsense 5/7 - 28
X-100653896-C-A c.678G>T p.Trp226Cys Missense 5/7 - 1
X-100653896-C-G c.678G>C p.Trp226Cys Missense 5/7 - 1
X-100653897-C-T c.677G>A p.Trp226* Nonsense 5/7 - 3
X-100653898-A-G c.676T>C p.Trp226Arg Missense 5/7 - 1
X-100653898-A-T c.676T>A p.Trp226Arg Missense 5/7 - 1
X-100653900-T-C c.674A>G p.His225Arg Missense 5/7 - 2
X-100653901-G-C c.673C>G p.His225Asp Missense 5/7 - 2
X-100653903-T-C c.671A>G p.Asn224Ser Missense 5/7 - 5
X-100653904-T-C c.670A>G p.Asn224Asp Missense 5/7 - 1
X-100653904-T-G c.670A>C p.Asn224His Missense 5/7 - 1
X-100653906-C-A c.668G>T p.Cys223Phe Missense 5/7 - 1
X-100653906-C-T c.668G>A p.Cys223Tyr Missense 5/7 - 6
X-100653906-C-G c.668G>C p.Cys223Ser Missense 5/7 - 3
X-100653907-A-C c.667T>G p.Cys223Gly Missense 5/7 - 1
X-100653907-A-G c.667T>C p.Cys223Arg Missense 5/7 - 2
X-100653907-A-T c.667T>A p.Cys223Ser Missense 5/7 - 3
X-100653908-AG-A c.666del p.Cys223Alafs*17 Frameshift 5/7 - 1
X-100653908-G-T c.666C>A p.Tyr222* Nonsense 5/7 - 1
X-100653910-A-C c.664T>G p.Tyr222Asp Missense 5/7 - 2
X-100653911-C-G c.663G>C p.Gln221His Missense 5/7 - 1
X-100653915-C-G c.659G>C p.Arg220Pro Missense 5/7 - 1
X-100653915-C-T c.659G>A p.Arg220Gln Missense 5/7 - 2
X-100653916-G-A c.658C>T p.Arg220* Nonsense 5/7 - 26
X-100653918-A-G c.656T>C p.Ile219Thr Missense 5/7 - 2
X-100653926-A-C c.648T>G p.Tyr216* Nonsense 5/7 - 1
X-100653926-A-T c.648T>A p.Tyr216* Nonsense 5/7 - 1
X-100653927-T-A c.647A>T p.Tyr216Phe Missense 5/7 - 1
X-100653927-T-C c.647A>G p.Tyr216Cys Missense 5/7 - 10
X-100653928-A-C c.646T>G p.Tyr216Asp Missense 5/7 - 2
X-100653930-T-C c.644A>G p.Asn215Ser Missense 5/7 - 66
X-100653933-G-A c.641C>T p.Pro214Leu Missense 5/7 - 2
X-100653934-G-A c.640C>T p.Pro214Ser Missense 5/7 - 1
X-100653934-G-C c.640C>G p.Pro214Ala Missense 5/7 - 1
X-100653935-C-A c.640-1G>T - IntronicSNV - 4/6 1
X-100653945-A-T c.640-11T>A - IntronicSNV - 4/6 1
X-100653950-T-A c.640-16A>T - IntronicSNV - 4/6 6
X-100653950-T-C c.640-16A>G - IntronicSNV - 4/6 10
X-100654735-C-T c.640-801G>A - IntronicSNV - 4/6 9
X-100654793-G-A c.640-859C>T - IntronicSNV - 4/6 3
X-100654883-G-A c.639+771C>T - IntronicSNV - 4/6 1
X-100654915-G-A c.639+739C>T - IntronicSNV - 4/6 1
X-100655586-T-C c.639+68A>G - IntronicSNV - 4/6 1
X-100655649-C-T c.639+5G>A - IntronicSNV - 4/6 1
X-100655650-T-A c.639+4A>T - IntronicSNV - 4/6 1
X-100655654-C-A c.639G>T p.Lys213Asn Missense 4/7 - 2
X-100655654-C-G c.639G>C p.Lys213Asn Missense 4/7 - 2
X-100655655-T-A c.638A>T p.Lys213Met Missense 4/7 - 4
X-100655656-TTTTGAAAGGGCCACATATAAAGAGGCCACTCACAGGAGTACACAATGCTTCTGCCAGTC-T c.579_637del p.Thr194Alafs*18 InFrameDeletion 4/7 - 1
X-100655658-TG-GC c.634_635delinsGC p.Gln212Ala Missense 4/7 - 1
X-100655659-G-A c.634C>T p.Gln212* Nonsense 4/7 - 1
X-100655663-G-GT c.629_630insA p.Phe211Leufs*21 Frameshift 4/7 - 1
X-100655664-G-A c.629C>T p.Pro210Leu Missense 4/7 - 4
X-100655665-G-A c.628C>T p.Pro210Ser Missense 4/7 - 4
X-100655668-A-G c.625T>C p.Trp209Arg Missense 4/7 - 1
X-100655668-A-T c.625T>A p.Trp209Arg Missense 4/7 - 1
X-100655669-C-T c.624G>A p.Met208Ile Missense 4/7 - 1
X-100655670-A-C c.623T>G p.Met208Arg Missense 4/7 - 1
X-100655670-A-T c.623T>A p.Met208Lys Missense 4/7 - 1
X-100655673-T-C c.620A>G p.Tyr207Cys Missense 4/7 - 4
X-100655673-T-G c.620A>C p.Tyr207Ser Missense 4/7 - 2
X-100655676-AA-A c.619del p.Tyr207Ilefs*33 Frameshift 4/7 - 1
X-100655676-A-G c.617T>C p.Leu206Pro Missense 4/7 - 2
X-100655676-AG-GC c.616_617delinsGC p.Leu206Ala Missense 4/7 - 1
X-100655679-G-C c.614C>G p.Pro205Arg Missense 4/7 - 3
X-100655680-G-A c.613C>T p.Pro205Ser Missense 4/7 - 2
X-100655680-GG-G c.614del p.Pro205Leufs*35 Frameshift 4/7 - 2
X-100655680-G-T c.613C>A p.Pro205Thr Missense 4/7 - 12
X-100655681-C-G c.612G>C p.Trp204Cys Missense 4/7 - 1
X-100655681-C-T c.612G>A p.Trp204* Nonsense 4/7 - 5
X-100655682-C-A c.611G>T p.Trp204Leu Missense 4/7 - 1
X-100655682-C-T c.611G>A p.Trp204* Nonsense 4/7 - 4
X-100655683-A-C c.610T>G p.Trp204Gly Missense 4/7 - 1
X-100655683-A-G c.610T>C p.Trp204Arg Missense 4/7 - 1
X-100655686-C-A c.607G>T p.Glu203* Nonsense 4/7 - 1
X-100655686-C-T c.607G>A p.Glu203Lys Missense 4/7 - 2
X-100655687-A-C c.606T>G p.Cys202Trp Missense 4/7 - 2
X-100655688-C-A c.605G>T p.Cys202Phe Missense 4/7 - 1
X-100655688-C-T c.605G>A p.Cys202Tyr Missense 4/7 - 7
X-100655691-G-A c.602C>T p.Ser201Phe Missense 4/7 - 1
X-100655691-G-T c.602C>A p.Ser201Tyr Missense 4/7 - 1
X-100655694-T-G c.599A>C p.Tyr200Ser Missense 4/7 - 1
X-100655697-A-G c.596T>C p.Val199Ala Missense 4/7 - 1
X-100655698-C-T c.595G>A p.Val199Met Missense 4/7 - 1
X-100655700-A-G c.593T>C p.Ile198Thr Missense 4/7 - 7
X-100655702-GCT-CAA c.589_591delinsTTG p.Ser197Leu Missense 4/7 - 1
X-100655706-C-G c.587G>C p.Arg196Thr Missense 4/7 - 1
X-100655706-C-T c.587G>A p.Arg196Lys Missense 4/7 - 1
X-100655709-C-A c.584G>T p.Gly195Val Missense 4/7 - 2
X-100655709-C-CTATTC c.584_585insAATAG p.Arg196Ilefs*46 Frameshift 4/7 - 1
X-100655712-G-A c.581C>T p.Thr194Ile Missense 4/7 - 2
X-100655713-T-C c.580A>G p.Thr194Ala Missense 4/7 - 1
X-100655714-C-G c.579G>C p.Arg193Ser Missense 4/7 - 1
X-100655715-CC-C c.579del p.Thr194Leufs*46 Frameshift 4/7 - 1
X-100655719-T-A c.574A>T p.Asn192Tyr Missense 4/7 - 1
X-100655721-A-G c.572T>C p.Leu191Pro Missense 4/7 - 2
X-100655724-G-A c.569C>T p.Ala190Val Missense 4/7 - 1
X-100655726-CC-C c.568del p.Ala190Profs*2 Frameshift 4/7 - 1
X-100655730-GG-G c.564del p.Leu189Trpfs*3 Frameshift 4/7 - 1
X-100655731-A-C c.562T>G p.Ser188Ala Missense 4/7 - 1
X-100655732-C-T c.561G>A p.Met187Ile Missense 4/7 - 4
X-100655733-A-C c.560T>G p.Met187Arg Missense 4/7 - 2
X-100655733-A-G c.560T>C p.Met187Thr Missense 4/7 - 2
X-100655733-CAT-C c.559_560del p.Met187Valfs*6 Frameshift 4/7 - 1
X-100655734-T-C c.559A>G p.Met187Val Missense 4/7 - 3
X-100655743-A-T c.550T>A p.Tyr184Asn Missense 4/7 - 1
X-100655745-C-A c.548G>T p.Gly183Val Missense 4/7 - 2
X-100655745-C-G c.548G>C p.Gly183Ala Missense 4/7 - 7
X-100655745-C-T c.548G>A p.Gly183Asp Missense 4/7 - 6
X-100655746-C-T c.548-1G>A - IntronicSNV - 3/6 1
X-100656225-C-G c.547+395G>C - IntronicSNV - 3/6 1
X-100656620-C-A c.547G>T p.Gly183Cys Missense 3/7 - 1
X-100656620-C-G c.547G>C p.Gly183Arg Missense 3/7 - 1
X-100656620-C-T c.547G>A p.Gly183Ser Missense 3/7 - 9
X-100656627-C-A c.540G>T p.Leu180Phe Missense 3/7 - 4
X-100656627-C-G c.540G>C p.Leu180Phe Missense 3/7 - 4
X-100656642-G-C c.525C>G p.Asp175Glu Missense 3/7 - 4
X-100656644-C-T c.523G>A p.Asp175Asn Missense 3/7 - 1
X-100656645-A-T c.522T>A p.Cys174* Nonsense 3/7 - 2
X-100656647-A-C c.520T>G p.Cys174Gly Missense 3/7 - 6
X-100656647-A-G c.520T>C p.Cys174Arg Missense 3/7 - 3
X-100656648-G-T c.519C>A p.Tyr173* Nonsense 3/7 - 3
X-100656652-C-A c.515G>T p.Cys172Phe Missense 3/7 - 1
X-100656652-C-T c.515G>A p.Cys172Tyr Missense 3/7 - 9
X-100656653-A-C c.514T>G p.Cys172Gly Missense 3/7 - 5
X-100656653-A-G c.514T>C p.Cys172Arg Missense 3/7 - 3
X-100656655-C-A c.512G>T p.Gly171Val Missense 3/7 - 1
X-100656655-C-T c.512G>A p.Gly171Asp Missense 3/7 - 2
X-100656656-C-A c.511G>T p.Gly171Cys Missense 3/7 - 1
X-100656656-C-G c.511G>C p.Gly171Arg Missense 3/7 - 1
X-100656656-C-T c.511G>A p.Gly171Ser Missense 3/7 - 1
X-100656658-T-A c.509A>T p.Asp170Val Missense 3/7 - 3
X-100656658-T-G c.509A>C p.Asp170Ala Missense 3/7 - 3
X-100656659-C-A c.508G>T p.Asp170Tyr Missense 3/7 - 1
X-100656659-C-G c.508G>C p.Asp170His Missense 3/7 - 2
X-100656659-C-T c.508G>A p.Asp170Asn Missense 3/7 - 4
X-100656661-A-G c.506T>C p.Phe169Ser Missense 3/7 - 1
X-100656662-A-G c.505T>C p.Phe169Leu Missense 3/7 - 1
X-100656663-T-G c.504A>C p.Lys168Asn Missense 3/7 - 2
X-100656667-A-T c.500T>A p.Leu167Gln Missense 3/7 - 2
X-100656670-AG-GG c.497delinsC p.Leu166Pro Missense 3/7 - 2
X-100656671-G-C c.496C>G p.Leu166Val Missense 3/7 - 5
X-100656672-A-C c.495T>G p.Asp165Glu Missense 3/7 - 1
X-100656673-T-A c.494A>T p.Asp165Val Missense 3/7 - 3
X-100656674-C-A c.493G>T p.Asp165Tyr Missense 3/7 - 2
X-100656674-C-G c.493G>C p.Asp165His Missense 3/7 - 6
X-100656674-C-T c.493G>A p.Asp165Asn Missense 3/7 - 1
X-100656676-A-C c.491T>G p.Val164Gly Missense 3/7 - 1
X-100656679-C-A c.488G>T p.Gly163Val Missense 3/7 - 1
X-100656680-C-G c.487G>C p.Gly163Arg Missense 3/7 - 1
X-100656681-C-A c.486G>T p.Trp162Cys Missense 3/7 - 3
X-100656681-C-G c.486G>C p.Trp162Cys Missense 3/7 - 4
X-100656682-C-T c.485G>A p.Trp162* Nonsense 3/7 - 8
X-100656683-A-C c.484T>G p.Trp162Gly Missense 3/7 - 3
X-100656683-A-G c.484T>C p.Trp162Arg Missense 3/7 - 3
X-100656688-AGCAAAGGTCTGGGCA-A c.467_481del p.Ala156_Ala160del InFrameDeletion 3/7 - 1
X-100656688-G-T c.479C>A p.Ala160Asp Missense 3/7 - 1
X-100656694-G-T c.473C>A p.Thr158Asn Missense 3/7 - 1
X-100656695-T-C c.472A>G p.Thr158Ala Missense 3/7 - 1
X-100656700-G-A c.467C>T p.Ala156Val Missense 3/7 - 7
X-100656700-G-T c.467C>A p.Ala156Asp Missense 3/7 - 3
X-100656701-C-T c.466G>A p.Ala156Thr Missense 3/7 - 7
X-100656704-C-G c.463G>C p.Asp155His Missense 3/7 - 1
X-100656711-G-T c.456C>A p.Tyr152* Nonsense 3/7 - 1
X-100656713-A-G c.454T>C p.Tyr152His Missense 3/7 - 1
X-100656714-G-C c.453C>G p.Tyr151* Nonsense 3/7 - 4
X-100656723-A-C c.444T>G p.Ser148Arg Missense 3/7 - 2
X-100656724-C-T c.443G>A p.Ser148Asn Missense 3/7 - 4
X-100656727-C-A c.440G>T p.Gly147Val Missense 3/7 - 1
X-100656727-C-T c.440G>A p.Gly147Glu Missense 3/7 - 4
X-100656728-C-T c.439G>A p.Gly147Arg Missense 3/7 - 2
X-100656730-G-C c.437C>G p.Pro146Arg Missense 3/7 - 1
X-100656731-G-A c.436C>T p.Pro146Ser Missense 3/7 - 4
X-100656736-C-A c.431G>T p.Gly144Val Missense 3/7 - 5
X-100656736-C-T c.431G>A p.Gly144Asp Missense 3/7 - 2
X-100656737-CC-C c.431del p.Gly144Alafs*21 Frameshift 3/7 - 1
X-100656739-G-A c.428C>T p.Ala143Val Missense 3/7 - 1
X-100656739-G-GG c.428dup p.Gly144Argfs*12 Frameshift 3/7 - 1
X-100656740-C-G c.427G>C p.Ala143Pro Missense 3/7 - 7
X-100656740-C-T c.427G>A p.Ala143Thr Missense 3/7 - 48
X-100656741-G-C c.426C>G p.Cys142Trp Missense 3/7 - 3
X-100656741-G-T c.426C>A p.Cys142* Nonsense 3/7 - 1
X-100656742-CA-GC c.424_425delinsGC p.Cys142Ala Missense 3/7 - 1
X-100656742-C-T c.425G>A p.Cys142Tyr Missense 3/7 - 3
X-100656743-A-G c.424T>C p.Cys142Arg Missense 3/7 - 8
X-100656745-G-A c.422C>T p.Thr141Ile Missense 3/7 - 3
X-100656748-T-G c.419A>C p.Lys140Thr Missense 3/7 - 1
X-100656751-T-C c.416A>G p.Asn139Ser Missense 3/7 - 9
X-100656754-C-T c.413G>A p.Gly138Glu Missense 3/7 - 2
X-100656755-C-T c.412G>A p.Gly138Arg Missense 3/7 - 2
X-100656758-AC-A c.409del p.Val137Leufs*28 Frameshift 3/7 - 2
X-100656759-A-T c.408T>A p.Asp136Glu Missense 3/7 - 1
X-100656763-G-A c.404C>T p.Ala135Val Missense 3/7 - 2
X-100656765-A-C c.402T>G p.Tyr134* Nonsense 3/7 - 2
X-100656765-A-T c.402T>A p.Tyr134* Nonsense 3/7 - 2
X-100656765-ATA-ATG c.400delinsC p.Tyr134His Missense 3/7 - 1
X-100656766-T-G c.401A>C p.Tyr134Ser Missense 3/7 - 1
X-100656767-A-C c.400T>G p.Tyr134Asp Missense 3/7 - 3
X-100656769-AA-A c.400del p.Tyr134Metfs*31 Frameshift 3/7 - 1
X-100656772-C-T c.395G>A p.Gly132Glu Missense 3/7 - 4
X-100656773-C-G c.394G>C p.Gly132Arg Missense 3/7 - 2
X-100656773-C-T c.394G>A p.Gly132Arg Missense 3/7 - 4
X-100656775-A-G c.392T>C p.Leu131Pro Missense 3/7 - 3
X-100656779-T-C c.388A>G p.Lys130Glu Missense 3/7 - 1
X-100656781-A-G c.386T>C p.Leu129Pro Missense 3/7 - 3
X-100656784-C-T c.383G>A p.Gly128Glu Missense 3/7 - 3
X-100656791-T-A c.376A>T p.Ser126Cys Missense 3/7 - 2
X-100656791-T-C c.376A>G p.Ser126Gly Missense 3/7 - 16
X-100656793-T-A c.374A>T p.His125Leu Missense 3/7 - 1
X-100656793-T-G c.374A>C p.His125Pro Missense 3/7 - 1
X-100656793-TG-AC c.373_374delinsGT p.His125Val Missense 3/7 - 1
X-100656794-G-A c.373C>T p.His125Tyr Missense 3/7 - 1
X-100656796-AACCTGAAATGAGAGGGAGGAAAAGAGTCACCATTGTAGAAGCACAATCGTGAGGTAGCA-A c.370-56_372del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 3/7 2/6 1
X-100656796-A-C c.371T>G p.Val124Gly Missense 3/7 - 1
X-100656798-CC-C c.370del - Frameshift - 2/6 3
X-100656799-T-C c.370-2A>G - IntronicSNV - 2/6 1
X-100656876-C-G c.370-79G>C - IntronicSNV - 2/6 1
X-100656876-GCTGGG-G c.370-81_370-77del - IntronicDeletion - 2/6 3
X-100657809-G-T c.369+990C>A - IntronicSNV - 2/6 2
X-100658515-CAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGTTACAGGCGTTCACCACCATG-C c.369+226_369+284del - Unclassified - 2/6 1
X-100658794-C-A c.369+5G>T - IntronicSNV - 2/6 1
X-100658807-C-G c.361G>C p.Ala121Pro Missense 2/7 - 1
X-100658807-C-T c.361G>A p.Ala121Thr Missense 2/7 - 4
X-100658809-A-G c.359T>C p.Leu120Pro Missense 2/7 - 3
X-100658810-G-C c.358C>G p.Leu120Val Missense 2/7 - 2
X-100658815-C-T c.353G>A p.Arg118His Missense 2/7 - 2
X-100658816-G-A c.352C>T p.Arg118Cys Missense 2/7 - 42
X-100658816-G-C c.352C>G p.Arg118Gly Missense 2/7 - 1
X-100658816-G-T c.352C>A p.Arg118Ser Missense 2/7 - 1
X-100658818-A-C c.350T>G p.Ile117Ser Missense 2/7 - 2
X-100658821-C-G c.347G>C p.Gly116Ala Missense 2/7 - 1
X-100658830-A-C c.338T>G p.Phe113Cys Missense 2/7 - 1
X-100658830-A-G c.338T>C p.Phe113Ser Missense 2/7 - 3
X-100658831-A-G c.337T>C p.Phe113Leu Missense 2/7 - 21
X-100658831-A-T c.337T>A p.Phe113Ile Missense 2/7 - 1
X-100658833-C-A c.335G>T p.Arg112Leu Missense 2/7 - 1
X-100658833-C-T c.335G>A p.Arg112His Missense 2/7 - 37
X-100658834-G-A c.334C>T p.Arg112Cys Missense 2/7 - 40
X-100658834-G-C c.334C>G p.Arg112Gly Missense 2/7 - 1
X-100658834-G-T c.334C>A p.Arg112Ser Missense 2/7 - 3
X-100658837-G-A c.331C>T p.Gln111* Nonsense 2/7 - 2
X-100658838-AGG-TAA c.328_330delinsTTA p.Pro110Leu Nonsense 2/7 - 1
X-100658841-GG-G c.329del p.Pro110Leufs*11 Frameshift 2/7 - 1
X-100658842-T-C c.326A>G p.Asp109Gly Missense 2/7 - 2
X-100658846-C-T c.322G>A p.Ala108Thr Missense 2/7 - 1
X-100658849-G-A c.319C>T p.Gln107* Nonsense 2/7 - 1
X-100658851-A-C c.317T>G p.Leu106Arg Missense 2/7 - 3
X-100658852-G-A c.316C>T p.Leu106Phe Missense 2/7 - 1
X-100658855-T-C c.313A>G p.Arg105Gly Missense 2/7 - 1
X-100658861-C-A c.307G>T p.Glu103* Nonsense 2/7 - 1
X-100658863-G-A c.305C>T p.Ser102Leu Missense 2/7 - 3
X-100658869-C-G c.299G>C p.Arg100Thr Missense 2/7 - 3
X-100658869-C-T c.299G>A p.Arg100Lys Missense 2/7 - 4
X-100658870-T-A c.298A>T p.Arg100* Nonsense 2/7 - 1
X-100658871-TTT-T c.297_298del p.Asp101Phefs*21 Frameshift 2/7 - 1
X-100658873-G-A c.295C>T p.Gln99* Nonsense 2/7 - 1
X-100658875-G-A c.293C>T p.Pro98Leu Missense 2/7 - 1
X-100658878-G-A c.290C>T p.Ala97Val Missense 2/7 - 9
X-100658879-C-G c.289G>C p.Ala97Pro Missense 2/7 - 1
X-100658880-C-T c.288G>A p.Met96Ile Missense 2/7 - 4
X-100658884-C-A c.284G>T p.Trp95Leu Missense 2/7 - 2
X-100658884-C-G c.284G>C p.Trp95Ser Missense 2/7 - 1
X-100658887-C-A c.281G>T p.Cys94Phe Missense 2/7 - 2
X-100658887-C-G c.281G>C p.Cys94Ser Missense 2/7 - 10
X-100658887-C-T c.281G>A p.Cys94Tyr Missense 2/7 - 3
X-100658888-A-G c.280T>C p.Cys94Arg Missense 2/7 - 1
X-100658888-A-T c.280T>A p.Cys94Ser Missense 2/7 - 8
X-100658889-G-C c.279C>G p.Asp93Glu Missense 2/7 - 2
X-100658890-T-A c.278A>T p.Asp93Val Missense 2/7 - 1
X-100658890-T-C c.278A>G p.Asp93Gly Missense 2/7 - 1
X-100658891-C-A c.277G>T p.Asp93Tyr Missense 2/7 - 1
X-100658891-C-T c.277G>A p.Asp93Asn Missense 2/7 - 4
X-100658893-T-C c.275A>G p.Asp92Gly Missense 2/7 - 1
X-100658894-C-A c.274G>T p.Asp92Tyr Missense 2/7 - 3
X-100658894-C-G c.274G>C p.Asp92His Missense 2/7 - 2
X-100658894-C-T c.274G>A p.Asp92Asn Missense 2/7 - 1
X-100658894-TCAAT-T c.273_276del p.Ile91Metfs*29 Frameshift 2/7 - 1
X-100658896-A-G c.272T>C p.Ile91Thr Missense 2/7 - 11
X-100658898-G-C c.270C>G p.Cys90Trp Missense 2/7 - 1
X-100658902-A-C c.266T>G p.Leu89Arg Missense 2/7 - 2
X-100658902-A-G c.266T>C p.Leu89Pro Missense 2/7 - 1
X-100658904-G-C c.264C>G p.Tyr88* Nonsense 2/7 - 1
X-100658904-G-T c.264C>A p.Tyr88* Nonsense 2/7 - 1
X-100658905-T-C c.263A>G p.Tyr88Cys Missense 2/7 - 2
X-100658912-A-C c.256T>G p.Tyr86Asp Missense 2/7 - 1
X-100658912-A-G c.256T>C p.Tyr86His Missense 2/7 - 2
X-100658913-AA-A c.256del p.Tyr86Metfs*35 Frameshift 2/7 - 1
X-100658913-A-C c.255T>G p.Gly85Gly Synonymous 2/7 - 1
X-100658913-A-G c.255T>C p.Gly85Gly Synonymous 2/7 - 1
X-100658913-A-T c.255T>A p.Gly85Gly Synonymous 2/7 - 1
X-100658914-C-A c.254G>T p.Gly85Val Missense 2/7 - 1
X-100658914-CC-AA c.253_254delinsTT p.Gly85Phe Missense 2/7 - 1
X-100658914-C-T c.254G>A p.Gly85Asp Missense 2/7 - 4
X-100658921-C-T c.247G>A p.Asp83Asn Missense 2/7 - 4
X-100658926-C-G c.242G>C p.Trp81Ser Missense 2/7 - 1
X-100658926-C-T c.242G>A p.Trp81* Nonsense 2/7 - 6
X-100658929-C-T c.239G>A p.Gly80Asp Missense 2/7 - 2
X-100658933-C-A c.235G>T p.Glu79* Nonsense 2/7 - 2
X-100658935-G-C c.233C>G p.Ser78* Nonsense 2/7 - 2
X-100658945-G-A c.223C>T p.Leu75Phe Missense 2/7 - 1
X-100658948-C-T c.220G>A p.Glu74Lys Missense 2/7 - 1
X-100658949-TGC-TGT c.217delinsA p.Ala73Thr Missense 2/7 - 1
X-100658950-G-A c.218C>T p.Ala73Val Missense 2/7 - 3
X-100658952-C-A c.216G>T p.Met72Ile Missense 2/7 - 1
X-100658952-C-G c.216G>C p.Met72Ile Missense 2/7 - 1
X-100658952-C-T c.216G>A p.Met72Ile Missense 2/7 - 1
X-100658953-A-C c.215T>G p.Met72Arg Missense 2/7 - 1
X-100658953-CA-C c.215del p.Met72Argfs*49 Frameshift 2/7 - 1
X-100658954-T-C c.214A>G p.Met72Val Missense 2/7 - 3
X-100658961-G-T c.207C>A p.Phe69Leu Missense 2/7 - 4
X-100658961-TG-T c.207del p.Phe69Leufs*52 Frameshift 2/7 - 1
X-100658965-A-G c.203T>C p.Leu68Pro Missense 2/7 - 1
X-100658966-G-A c.202C>T p.Leu68Phe Missense 2/7 - 3
X-100658971-T-C c.197A>G p.Glu66Gly Missense 2/7 - 3
X-100658972-C-G c.196G>C p.Glu66Gln Missense 2/7 - 29
X-100658972-C-T c.196G>A p.Glu66Lys Missense 2/7 - 2
X-100658973-CA-C c.195del p.Ser65Argfs*56 Frameshift 2/7 - 1
X-100658974-C-T c.195-1G>A - IntronicSNV - 1/6 1
X-100662696-A-G c.194+2T>C - IntronicSNV - 1/6 1
X-100662698-C-A c.194G>T p.Ser65Ile Missense 1/7 - 1
X-100662698-C-G c.194G>C p.Ser65Thr Missense 1/7 - 2
X-100662699-T-TA c.192_193insT p.Ser65* SpliceDonorInsertion 1/7 - 1
X-100662699-T-TC c.192_193insG p.Ser65Glufs*2 SpliceDonorInsertion 1/7 - 1
X-100662699-T-TT c.193dup p.Ser65Lysfs*2 SpliceDonorInsertion 1/7 - 1
X-100662700-G-GG c.192dup p.Ser65Glnfs*2 SpliceDonorInsertion 1/7 - 1
X-100662704-C-T c.188G>A p.Cys63Tyr Missense 1/7 - 4
X-100662705-A-G c.187T>C p.Cys63Arg Missense 1/7 - 1
X-100662705-A-T c.187T>A p.Cys63Ser Missense 1/7 - 1
X-100662709-A-AA c.184dup p.Ser62Phefs*5 Frameshift 1/7 - 1
X-100662709-A-G c.183T>C p.Asp61Asp Synonymous 1/7 - 1
X-100662713-G-A c.179C>T p.Pro60Leu Missense 1/7 - 6
X-100662716-T-A c.176A>T p.Glu59Val Missense 1/7 - 2
X-100662717-C-T c.175G>A p.Glu59Lys Missense 1/7 - 7
X-100662720-TCCTGGC-T c.167_172del p.Cys56_Glu58delins* MultiAAMissense 1/7 - 1
X-100662722-T-A c.170A>T p.Gln57Leu Missense 1/7 - 3
X-100662722-T-C c.170A>G p.Gln57Arg Missense 1/7 - 1
X-100662723-G-A c.169C>T p.Gln57* Nonsense 1/7 - 2
X-100662724-G-T c.168C>A p.Cys56* Nonsense 1/7 - 1
X-100662725-C-A c.167G>T p.Cys56Phe Missense 1/7 - 1
X-100662725-C-T c.167G>A p.Cys56Tyr Missense 1/7 - 3
X-100662726-A-C c.166T>G p.Cys56Gly Missense 1/7 - 2
X-100662726-A-T c.166T>A p.Cys56Ser Missense 1/7 - 2
X-100662728-T-A c.164A>T p.Asp55Val Missense 1/7 - 4
X-100662728-T-C c.164A>G p.Asp55Gly Missense 1/7 - 1
X-100662731-A-G c.161T>C p.Leu54Pro Missense 1/7 - 1
X-100662732-G-A c.160C>T p.Leu54Phe Missense 1/7 - 2
X-100662733-GGTTG-G c.157_160del p.Asn53Leufs*67 Frameshift 1/7 - 1
X-100662735-T-A c.157A>T p.Asn53Tyr Missense 1/7 - 1
X-100662736-G-C c.156C>G p.Cys52Trp Missense 1/7 - 1
X-100662736-G-T c.156C>A p.Cys52* Nonsense 1/7 - 1
X-100662737-C-G c.155G>C p.Cys52Ser Missense 1/7 - 5
X-100662737-C-T c.155G>A p.Cys52Tyr Missense 1/7 - 4
X-100662738-A-C c.154T>G p.Cys52Gly Missense 1/7 - 1
X-100662738-A-G c.154T>C p.Cys52Arg Missense 1/7 - 1
X-100662739-CAT-TGT c.152_153delinsCA p.Met51Thr Missense 1/7 - 1
X-100662739-C-T c.153G>A p.Met51Ile Missense 1/7 - 7
X-100662740-A-T c.152T>A p.Met51Lys Missense 1/7 - 2
X-100662743-A-C c.149T>G p.Phe50Cys Missense 1/7 - 1
X-100662746-C-A c.146G>T p.Arg49Leu Missense 1/7 - 3
X-100662746-C-G c.146G>C p.Arg49Pro Missense 1/7 - 4
X-100662747-G-A c.145C>T p.Arg49Cys Missense 1/7 - 4
X-100662747-G-C c.145C>G p.Arg49Gly Missense 1/7 - 5
X-100662747-G-T c.145C>A p.Arg49Ser Missense 1/7 - 1
X-100662750-C-G c.142G>C p.Glu48Gln Missense 1/7 - 1
X-100662752-C-T c.140G>A p.Trp47* Nonsense 1/7 - 4
X-100662753-A-G c.139T>C p.Trp47Arg Missense 1/7 - 2
X-100662755-T-C c.137A>G p.His46Arg Missense 1/7 - 6
X-100662755-T-G c.137A>C p.His46Pro Missense 1/7 - 3
X-100662756-G-A c.136C>T p.His46Tyr Missense 1/7 - 4
X-100662757-GCAGCCAGCCCATG-G c.125_137del p.Met42Thrfs*75 Frameshift 1/7 - 1
X-100662758-A-C c.134T>G p.Leu45Arg Missense 1/7 - 1
X-100662758-A-G c.134T>C p.Leu45Pro Missense 1/7 - 3
X-100662760-C-A c.132G>T p.Trp44Cys Missense 1/7 - 2
X-100662761-C-T c.131G>A p.Trp44* Nonsense 1/7 - 1
X-100662764-C-A c.128G>T p.Gly43Val Missense 1/7 - 6
X-100662764-C-T c.128G>A p.Gly43Asp Missense 1/7 - 1
X-100662765-C-G c.127G>C p.Gly43Arg Missense 1/7 - 1
X-100662765-C-T c.127G>A p.Gly43Ser Missense 1/7 - 1
X-100662766-C-T c.126G>A p.Met42Ile Missense 1/7 - 2
X-100662767-A-C c.125T>G p.Met42Arg Missense 1/7 - 1
X-100662767-A-G c.125T>C p.Met42Thr Missense 1/7 - 4
X-100662767-A-T c.125T>A p.Met42Lys Missense 1/7 - 1
X-100662768-T-C c.124A>G p.Met42Val Missense 1/7 - 12
X-100662768-T-G c.124A>C p.Met42Leu Missense 1/7 - 1
X-100662769-G-A c.123C>T p.Thr41Thr Synonymous 1/7 - 1
X-100662770-G-A c.122C>T p.Thr41Ile Missense 1/7 - 3
X-100662770-G-C c.122C>G p.Thr41Ser Missense 1/7 - 1
X-100662770-GG-G c.123del p.Met42Trpfs*79 Frameshift 1/7 - 1
X-100662773-G-A c.119C>T p.Pro40Leu Missense 1/7 - 2
X-100662773-G-T c.119C>A p.Pro40His Missense 1/7 - 1
X-100662774-G-A c.118C>T p.Pro40Ser Missense 1/7 - 6
X-100662782-G-A c.110C>T p.Ala37Val Missense 1/7 - 1
X-100662783-C-A c.109G>T p.Ala37Ser Missense 1/7 - 1
X-100662783-C-CGCCAG c.108_109insCTGGC p.Ala37Leufs*86 Frameshift 1/7 - 1
X-100662783-C-T c.109G>A p.Ala37Thr Missense 1/7 - 6
X-100662784-C-G c.108G>C p.Leu36Phe Missense 1/7 - 1
X-100662785-A-C c.107T>G p.Leu36Trp Missense 1/7 - 2
X-100662788-C-A c.104G>T p.Gly35Val Missense 1/7 - 1
X-100662788-C-T c.104G>A p.Gly35Glu Missense 1/7 - 4
X-100662789-C-G c.103G>C p.Gly35Arg Missense 1/7 - 3
X-100662790-A-C c.102T>G p.Asn34Lys Missense 1/7 - 1
X-100662790-A-T c.102T>A p.Asn34Lys Missense 1/7 - 1
X-100662791-T-C c.101A>G p.Asn34Ser Missense 1/7 - 8
X-100662791-T-G c.101A>C p.Asn34Thr Missense 1/7 - 1
X-100662792-T-C c.100A>G p.Asn34Asp Missense 1/7 - 2
X-100662792-T-G c.100A>C p.Asn34His Missense 1/7 - 1
X-100662794-T-C c.98A>G p.Asp33Gly Missense 1/7 - 7
X-100662795-C-A c.97G>T p.Asp33Tyr Missense 1/7 - 2
X-100662795-C-G c.97G>C p.Asp33His Missense 1/7 - 1
X-100662797-A-G c.95T>C p.Leu32Pro Missense 1/7 - 2
X-100662806-GC-TG c.85_86delinsCA p.Ala29His Missense 1/7 - 1
X-100662810-CCAGGGATGTCCCAGGAAACGAGGGCC-C c.59_84del p.Ala20Glyfs*2 Frameshift 1/7 - 1
X-100662810-CC-C c.85del p.Ala29Leufs*92 Frameshift 1/7 - 3
X-100662813-G-C c.79C>G p.Pro27Ala Missense 1/7 - 1
X-100662818-T-A c.74A>T p.Asp25Val Missense 1/7 - 1
X-100662821-C-T c.71G>A p.Trp24* Nonsense 1/7 - 2
X-100662822-A-T c.70T>A p.Trp24Arg Missense 1/7 - 3
X-100662827-A-C c.65T>G p.Val22Gly Missense 1/7 - 1
X-100662827-A-G c.65T>C p.Val22Ala Missense 1/7 - 1
X-100662830-A-G c.62T>C p.Leu21Pro Missense 1/7 - 2
X-100662833-G-T c.59C>A p.Ala20Asp Missense 1/7 - 2
X-100662834-C-G c.58G>C p.Ala20Pro Missense 1/7 - 8
X-100662836-A-G c.56T>C p.Leu19Pro Missense 1/7 - 2
X-100662839-A-C c.53T>G p.Phe18Cys Missense 1/7 - 1
X-100662839-A-T c.53T>A p.Phe18Tyr Missense 1/7 - 1
X-100662844-A-C c.48T>G p.Leu16Leu Synonymous 1/7 - 1
X-100662845-A-C c.47T>G p.Leu16Arg Missense 1/7 - 2
X-100662845-AG-GC c.46_47delinsGC p.Leu16Ala Missense 1/7 - 1
X-100662848-G-C c.44C>G p.Ala15Gly Missense 1/7 - 1
X-100662848-G-T c.44C>A p.Ala15Glu Missense 1/7 - 4
X-100662849-C-G c.43G>C p.Ala15Pro Missense 1/7 - 1
X-100662850-AAG-GAG c.42delinsC p.Leu14Leu Missense 1/7 - 1
X-100662850-CAAGCGCGCA-C c.34_42del p.Cys12_Leu14del InFrameDeletion 1/7 - 1
X-100662851-A-C c.41T>G p.Leu14Arg Missense 1/7 - 1
X-100662854-G-C c.38C>G p.Ala13Gly Missense 1/7 - 1
X-100662856-G-T c.36C>A p.Cys12* Nonsense 1/7 - 1
X-100662862-CC-C c.32del p.Gly11Alafs*110 Frameshift 1/7 - 2
X-100662866-AT-A c.26del p.His9Leufs*112 Frameshift 1/7 - 1
X-100662873-C-A c.19G>T p.Glu7* Nonsense 1/7 - 1
X-100662879-T-C c.13A>G p.Asn5Asp Missense 1/7 - 1
X-100662884-A-G c.8T>C p.Leu3Pro Missense 1/7 - 2
X-100662888-G-A c.4C>T p.Gln2* Nonsense 1/7 - 2
X-100662889-C-T c.3G>A p.Met1? Missense 1/7 - 2
X-100662890-A-G c.2T>C p.Met1? Missense 1/7 - 2
X-100662891-T-C c.1A>G p.Met1? Missense 1/7 - 1
X-100662899-G-A c.-8C>T - 5-UTRSNV 1/7 - 1
X-100662899-G-C c.-8C>G - 5-UTRSNV 1/7 - 2
X-100662901-G-A c.-10C>T - 5-UTRSNV 1/7 - 13
X-100662903-C-T c.-12G>A - 5-UTRSNV 1/7 - 4
X-100662909-A-G c.-18T>C - 5-UTRSNV 1/7 - 1
X-100662921-C-T c.-30G>A - 5-UTRSNV 1/7 - 3
X-100662931-C-G c.-40G>C - 5-UTRSNV 1/7 - 1
X-100662935-G-A c.-44C>T - 5-UTRSNV 1/7 - 1
X-100662996-T-C c.-105A>G - 5-UTRSNV 1/7 - 2