FH fumarate hydratase

Canonical transcript: NM_000143

436 unique variant annotations were identified in 307 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
1-241661141-A-G c.1520T>C p.Leu507Pro Missense 10/10 - 1
1-241661151-T-C c.1510A>G p.Lys504Glu Missense 10/10 - 1
1-241661154-G-C c.1507C>G p.Pro503Ala Missense 10/10 - 3
1-241661221-T-TT c.1441dup p.Thr481Asnfs*18 Frameshift 10/10 - 1
1-241661222-G-C c.1439C>G p.Ser480* Nonsense 10/10 - 1
1-241661223-A-C c.1438T>G p.Ser480Ala Missense 10/10 - 1
1-241661226-C-CCTT c.1434_1435insAAG p.Asn478_Gly479insLys InFrameInsertion 10/10 - 1
1-241661230-TTT-TTTTTT c.1431_1433dup p.Lys477dup InFrameInsertion 10/10 - 2
1-241661240-G-C c.1421C>G p.Thr474Arg Missense 10/10 - 1
1-241661250-T-C c.1411A>G p.Ile471Val Missense 10/10 - 1
1-241661261-T-C c.1400A>G p.Lys467Arg Missense 10/10 - 1
1-241661262-T-A c.1399A>T p.Lys467* Nonsense 10/10 - 1
1-241661267-T-C c.1394A>G p.Tyr465Cys Missense 10/10 - 1
1-241661268-A-T c.1393T>A p.Tyr465Asn Missense 10/10 - 1
1-241661271-C-T c.1391-1G>A - IntronicSNV - 9/9 1
1-241663731-A-T c.1390+6T>A - IntronicSNV - 9/9 1
1-241663735-TA-T c.1390+2del - IntronicDeletion - 9/9 1
1-241663743-G-C c.1384C>G p.His462Asp Missense 9/10 - 1
1-241663750-G-A c.1377C>T p.Leu459Leu Synonymous 9/10 - 1
1-241663750-G-C c.1377C>G p.Leu459Leu Synonymous 9/10 - 1
1-241663750-G-T c.1377C>A p.Leu459Leu Synonymous 9/10 - 1
1-241663751-A-C c.1376T>G p.Leu459Arg Missense 9/10 - 1
1-241663765-C-A c.1362G>T p.Met454Ile Missense 9/10 - 1
1-241663765-C-G c.1362G>C p.Met454Ile Missense 9/10 - 1
1-241663765-C-T c.1362G>A p.Met454Ile Missense 9/10 - 1
1-241663785-G-C c.1342C>G p.Leu448Val Missense 9/10 - 1
1-241663794-T-A c.1333A>T p.Ile445Phe Missense 9/10 - 1
1-241663799-TT-T c.1330del p.Arg444Glyfs*5 Frameshift 9/10 - 1
1-241663811-T-G c.1316A>C p.Gln439Pro Missense 9/10 - 1
1-241663817-C-G c.1310G>C p.Gly437Ala Missense 9/10 - 2
1-241663820-A-T c.1307T>A p.Val436Glu Missense 9/10 - 1
1-241663821-C-T c.1306G>A p.Val436Met Missense 9/10 - 1
1-241663823-A-G c.1304T>C p.Val435Ala Missense 9/10 - 1
1-241663827-A-G c.1300T>C p.Cys434Arg Missense 9/10 - 1
1-241663833-C-T c.1294G>A p.Glu432Lys Missense 9/10 - 1
1-241663847-G-A c.1280C>T p.Ser427Leu Missense 9/10 - 1
1-241663850-G-A c.1277C>T p.Ala426Val Missense 9/10 - 1
1-241663853-T-A c.1274A>T p.Asp425Val Missense 9/10 - 1
1-241663853-T-C c.1274A>G p.Asp425Gly Missense 9/10 - 1
1-241663856-C-G c.1271G>C p.Gly424Ala Missense 9/10 - 1
1-241663859-A-G c.1268T>C p.Leu423Pro Missense 9/10 - 2
1-241663865-CT-GC c.1261_1262delinsGC p.Arg421Ala Missense 9/10 - 1
1-241663865-CT-TA c.1261_1262delinsTA p.Arg421* Nonsense 9/10 - 1
1-241663869-C-A c.1258G>T p.Ala420Ser Missense 9/10 - 1
1-241663871-G-A c.1256C>T p.Ser419Leu Missense 9/10 - 1
1-241663871-G-C c.1256C>G p.Ser419* Nonsense 9/10 - 2
1-241663871-G-T c.1256C>A p.Ser419* Nonsense 9/10 - 2
1-241663872-A-G c.1255T>C p.Ser419Pro Missense 9/10 - 1
1-241663875-G-A c.1252C>T p.His418Tyr Missense 9/10 - 2
1-241663887-TT-T c.1244del p.Asn415Metfs*34 Frameshift 9/10 - 1
1-241665743-C-A c.1236G>T p.Met412Ile Missense 8/10 - 1
1-241665743-C-G c.1236G>C p.Met412Ile Missense 8/10 - 1
1-241665743-C-T c.1236G>A p.Met412Ile Missense 8/10 - 1
1-241665745-AT-A c.1234del p.Met412* Frameshift 8/10 - 1
1-241665765-A-G c.1214T>C p.Leu405Ser Missense 8/10 - 1
1-241665767-C-G c.1212G>C p.Glu404Asp Missense 8/10 - 2
1-241665769-C-A c.1210G>T p.Glu404* Nonsense 8/10 - 2
1-241665773-AA-A c.1209del p.Phe403Leufs*3 Frameshift 8/10 - 1
1-241665774-AT-A c.1205del p.His402Leufs*4 Frameshift 8/10 - 1
1-241665775-G-A c.1204C>T p.His402Tyr Missense 8/10 - 6
1-241665777-C-A c.1202G>T p.Gly401Val Missense 8/10 - 1
1-241665779-CA-C c.1200del p.Asn400Lysfs*6 Frameshift 8/10 - 1
1-241665780-T-C c.1199A>G p.Asn400Ser Missense 8/10 - 1
1-241665784-T-C c.1195A>G p.Ser399Gly Missense 8/10 - 1
1-241665785-G-A c.1194C>T p.Gly398Gly Synonymous 8/10 - 3
1-241665788-TCC-AGC c.1190_1191delinsCT p.Gly397Ala Missense 8/10 - 1
1-241665789-C-G c.1190G>C p.Gly397Ala Missense 8/10 - 1
1-241665790-C-T c.1189G>A p.Gly397Arg Missense 8/10 - 11
1-241665793-C-G c.1186G>C p.Val396Leu Missense 8/10 - 1
1-241665799-C-G c.1180G>C p.Val394Leu Missense 8/10 - 1
1-241665817-AT-A c.1162del p.Met388Trpfs*18 Frameshift 8/10 - 1
1-241665825-G-T c.1154C>A p.Ala385Asp Missense 8/10 - 1
1-241665835-T-C c.1144A>G p.Met382Val Missense 8/10 - 2
1-241665842-T-TT c.1138dup p.Met380Asnfs*25 Frameshift 8/10 - 4
1-241665849-C-A c.1130G>T p.Cys377Phe Missense 8/10 - 1
1-241665850-A-C c.1129T>G p.Cys377Gly Missense 8/10 - 1
1-241665852-T-G c.1127A>C p.Gln376Pro Missense 8/10 - 2
1-241665856-GT-G c.1123del p.Thr375Leufs*6 Frameshift 8/10 - 1
1-241665859-G-A c.1120C>T p.Pro374Ser Missense 8/10 - 1
1-241665861-T-C c.1118A>G p.Asn373Ser Missense 8/10 - 1
1-241665868-T-A c.1111A>T p.Lys371* Nonsense 8/10 - 1
1-241665868-T-C c.1111A>G p.Lys371Glu Missense 8/10 - 1
1-241667345-G-A c.1105C>T p.Pro369Ser Missense 7/10 - 1
1-241667347-A-G c.1103T>C p.Met368Thr Missense 7/10 - 1
1-241667347-AT-GC c.1102_1103delinsGC p.Met368Ala Missense 7/10 - 1
1-241667350-A-T c.1100T>A p.Ile367Asn Missense 7/10 - 1
1-241667353-C-T c.1097G>A p.Ser366Asn Missense 7/10 - 2
1-241667357-T-C c.1093A>G p.Ser365Gly Missense 7/10 - 1
1-241667365-T-G c.1085A>C p.Glu362Ala Missense 7/10 - 1
1-241667366-C-G c.1084G>C p.Glu362Gln Missense 7/10 - 3
1-241667366-TCATT-T c.1083_1086del p.Glu362Glnfs*10 Frameshift 7/10 - 1
1-241667367-A-C c.1083T>G p.Asn361Lys Missense 7/10 - 1
1-241667367-A-T c.1083T>A p.Asn361Lys Missense 7/10 - 1
1-241667369-T-TA c.1080_1081insT p.Asn361* Nonsense 7/10 - 1
1-241667372-C-G c.1078G>C p.Glu360Gln Missense 7/10 - 1
1-241667379-G-C c.1071C>G p.Ile357Met Missense 7/10 - 1
1-241667383-A-T c.1067T>A p.Leu356* Nonsense 7/10 - 1
1-241667387-C-T c.1063G>A p.Glu355Lys Missense 7/10 - 1
1-241667390-C-T c.1060G>A p.Gly354Arg Missense 7/10 - 5
1-241667395-C-T c.1055G>A p.Gly352Asp Missense 7/10 - 1
1-241667401-CG-TA c.1048_1049delinsTA p.Arg350* Nonsense 7/10 - 1
1-241667402-G-A c.1048C>T p.Arg350Trp Missense 7/10 - 3
1-241667409-CA-C c.1041del p.Gly348Valfs*9 Frameshift 7/10 - 1
1-241667411-A-C c.1039T>G p.Ser347Ala Missense 7/10 - 1
1-241667422-CG-GC c.1027_1028delinsGC p.Arg343Ala Missense 7/10 - 1
1-241667423-G-A c.1027C>T p.Arg343* Nonsense 7/10 - 3
1-241667429-C-A c.1021G>T p.Asp341Tyr Missense 7/10 - 1
1-241667429-C-T c.1021G>A p.Asp341Asn Missense 7/10 - 3
1-241667430-A-T c.1020T>A p.Asn340Lys Missense 7/10 - 3
1-241667435-C-T c.1015G>A p.Ala339Thr Missense 7/10 - 1
1-241667438-T-A c.1012A>T p.Ile338Leu Missense 7/10 - 1
1-241667445-C-CG c.1004_1005insC p.Met336Aspfs*6 Frameshift 7/10 - 1
1-241667446-A-G c.1004T>C p.Leu335Pro Missense 7/10 - 1
1-241667448-A-C c.1002T>G p.Ser334Arg Missense 7/10 - 5
1-241667452-C-T c.998G>A p.Cys333Tyr Missense 7/10 - 1
1-241667462-T-C c.988A>G p.Thr330Ala Missense 7/10 - 1
1-241667462-T-G c.988A>C p.Thr330Pro Missense 7/10 - 1
1-241667471-C-T c.979G>A p.Ala327Thr Missense 7/10 - 1
1-241667475-A-C c.975T>G p.Ser325Arg Missense 7/10 - 1
1-241667475-A-T c.975T>A p.Ser325Arg Missense 7/10 - 1
1-241667477-T-G c.973A>C p.Ser325Arg Missense 7/10 - 1
1-241667476-C-T c.974G>A p.Ser325Asn Missense 7/10 - 1
1-241667478-GAG-ATG c.971_972delinsAT p.Leu324His Missense 7/10 - 1
1-241667485-A-T c.965T>A p.Val322Asp Missense 7/10 - 1
1-241667497-T-A c.953A>T p.His318Leu Missense 7/10 - 2
1-241667498-G-A c.952C>T p.His318Tyr Missense 7/10 - 7
1-241667504-C-T c.946G>A p.Ala316Thr Missense 7/10 - 1
1-241667506-A-G c.944T>C p.Leu315Pro Missense 7/10 - 1
1-241667509-G-A c.941C>T p.Ala314Val Missense 7/10 - 1
1-241667515-A-C c.935T>G p.Phe312Cys Missense 7/10 - 2
1-241667522-T-A c.928A>T p.Asn310Tyr Missense 7/10 - 1
1-241667523-C-G c.927G>C p.Pro309Pro Synonymous 7/10 - 1
1-241667523-C-T c.927G>A p.Pro309Pro Synonymous 7/10 - 1
1-241667525-G-A c.925C>T p.Pro309Ser Missense 7/10 - 1
1-241667528-C-T c.922G>A p.Ala308Thr Missense 7/10 - 4
1-241667530-G-A c.920C>T p.Thr307Ile Missense 7/10 - 1
1-241667536-A-G c.914T>C p.Phe305Ser Missense 7/10 - 1
1-241667540-GG-G c.911del p.Pro304Leufs*25 Frameshift 7/10 - 1
1-241667542-A-G c.908T>C p.Leu303Ser Missense 7/10 - 2
1-241667547-T-C c.905-2A>G - IntronicSNV - 6/9 1
1-241669256-C-T c.904+47G>A - IntronicSNV - 6/9 1
1-241669309-G-A c.898C>T p.Leu300Phe Missense 6/10 - 1
1-241669318-CT-GC c.888_889delinsGC p.Val297Leu Missense 6/10 - 1
1-241669324-C-T c.883G>A p.Ala295Thr Missense 6/10 - 1
1-241669345-C-T c.862G>A p.Gly288Ser Missense 6/10 - 1
1-241669347-AT-CA c.859_860delinsTG p.Ile287Cys Missense 6/10 - 1
1-241669351-T-C c.856A>G p.Arg286Gly Missense 6/10 - 1
1-241669361-AC-AG c.845delinsC p.Gly282Ala Missense 6/10 - 1
1-241669362-C-A c.845G>T p.Gly282Val Missense 6/10 - 1
1-241669362-C-T c.845G>A p.Gly282Asp Missense 6/10 - 1
1-241669363-C-A c.844G>T p.Gly282Cys Missense 6/10 - 1
1-241669363-C-G c.844G>C p.Gly282Arg Missense 6/10 - 1
1-241669371-AACA-A c.836_838del p.Val279del InFrameDeletion 6/10 - 2
1-241669371-A-T c.836T>A p.Val279Asp Missense 6/10 - 2
1-241669372-ACAGCAGTGCCTCCAGCTGCGA-A c.816_836del p.Ala273_Val279del InFrameDeletion 6/10 - 2
1-241669372-C-A c.835G>T p.Val279Phe Missense 6/10 - 1
1-241669379-G-T c.828C>A p.Gly276Gly Synonymous 6/10 - 1
1-241669380-CC-AC c.827delinsT p.Gly276Val Missense 6/10 - 1
1-241669382-TCC-AGC c.824_825delinsCT p.Gly275Ala Missense 6/10 - 1
1-241669383-C-G c.824G>C p.Gly275Ala Missense 6/10 - 1
1-241669383-C-T c.824G>A p.Gly275Glu Missense 6/10 - 2
1-241669386-G-A c.821C>T p.Ala274Val Missense 6/10 - 1
1-241669387-C-T c.820G>A p.Ala274Thr Missense 6/10 - 1
1-241669390-C-T c.817G>A p.Ala273Thr Missense 6/10 - 1
1-241669390-GCG-G c.817_818del p.Ala273Serfs*13 Frameshift 6/10 - 1
1-241669392-A-G c.815T>C p.Leu272Pro Missense 6/10 - 1
1-241669396-C-T c.811G>A p.Glu271Lys Missense 6/10 - 1
1-241669398-T-C c.809A>G p.Tyr270Cys Missense 6/10 - 1
1-241669401-A-G c.806T>C p.Ile269Thr Missense 6/10 - 1
1-241669403-TT-T c.805del p.Ile269Serfs*15 Frameshift 6/10 - 1
1-241669427-TT-T c.781del p.Arg261Glufs*2 Frameshift 6/10 - 1
1-241669437-T-A c.770A>T p.Tyr257Phe Missense 6/10 - 1
1-241669437-TA-GC c.769_770delinsGC p.Tyr257Ala Missense 6/10 - 1
1-241669450-G-A c.757C>T p.Gln253* Nonsense 6/10 - 1
1-241669452-A-G c.755T>C p.Val252Ala Missense 6/10 - 1
1-241669461-C-T c.746G>A p.Ser249Asn Missense 6/10 - 1
1-241669469-CC-C c.739del - Frameshift - 5/9 1
1-241671903-CC-C c.738+1del - Frameshift 5/10 - 1
1-241671907-C-T c.734G>A p.Gly245Glu Missense 5/10 - 1
1-241671923-C-T c.718G>A p.Val240Ile Missense 5/10 - 1
1-241671926-C-A c.715G>T p.Ala239Ser Missense 5/10 - 1
1-241671926-C-T c.715G>A p.Ala239Thr Missense 5/10 - 1
1-241671928-T-G c.713A>C p.Asp238Ala Missense 5/10 - 1
1-241671934-GT-GA c.706delinsT p.Thr236Ser Missense 5/10 - 1
1-241671934-GT-TA c.706_707delinsTA p.Thr236Tyr Missense 5/10 - 1
1-241671935-T-C c.706A>G p.Thr236Ala Missense 5/10 - 1
1-241671936-A-T c.705T>A p.His235Gln Missense 5/10 - 1
1-241671938-G-A c.703C>T p.His235Tyr Missense 5/10 - 1
1-241671941-T-C c.700A>G p.Thr234Ala Missense 5/10 - 2
1-241671942-ACG-AAG c.698delinsT p.Arg233Leu Missense 5/10 - 1
1-241671943-C-A c.698G>T p.Arg233Leu Missense 5/10 - 2
1-241671943-C-T c.698G>A p.Arg233His Missense 5/10 - 12
1-241671944-G-A c.697C>T p.Arg233Cys Missense 5/10 - 3
1-241671948-CAATCTTGATGATCTGTGCAAACTCTTT-C c.667_693del p.Lys223_Ile231del InFrameDeletion 5/10 - 1
1-241671950-T-G c.691A>C p.Ile231Leu Missense 5/10 - 1
1-241671952-T-C c.689A>G p.Lys230Arg Missense 5/10 - 4
1-241671952-T-G c.689A>C p.Lys230Thr Missense 5/10 - 1
1-241671953-T-C c.688A>G p.Lys230Glu Missense 5/10 - 1
1-241671955-A-G c.686T>C p.Ile229Thr Missense 5/10 - 1
1-241671958-A-T c.683T>A p.Ile228Asn Missense 5/10 - 2
1-241671960-C-A c.681G>T p.Gln227His Missense 5/10 - 1
1-241671960-C-G c.681G>C p.Gln227His Missense 5/10 - 1
1-241671971-C-T c.670G>A p.Glu224Lys Missense 5/10 - 1
1-241671971-TCT-T c.671_672del p.Glu224Valfs*25 Frameshift 5/10 - 2
1-241671974-T-G c.667A>C p.Lys223Gln Missense 5/10 - 1
1-241671976-GG-G c.666del p.Glu224Serfs*32 Frameshift 5/10 - 1
1-241671979-T-C c.662A>G p.Lys221Arg Missense 5/10 - 2
1-241671980-T-G c.661A>C p.Lys221Gln Missense 5/10 - 1
1-241671980-TTTGCAT-T c.657_662del p.Asp219_Lys221delinsGlu MultiAAMissense 5/10 - 1
1-241671981-T-C c.660A>G p.Ala220Ala Synonymous 5/10 - 1
1-241671983-C-A c.658G>T p.Ala220Ser Missense 5/10 - 1
1-241671983-C-T c.658G>A p.Ala220Thr Missense 5/10 - 1
1-241671986-C-T c.655G>A p.Asp219Asn Missense 5/10 - 1
1-241671995-C-G c.646G>C p.Asp216His Missense 5/10 - 1
1-241671997-T-C c.644A>G p.His215Arg Missense 5/10 - 1
1-241672007-G-A c.634C>T p.Gln212* Nonsense 5/10 - 1
1-241672009-TAGT-T c.632_634del p.Leu211del InFrameDeletion 5/10 - 1
1-241672011-GT-G c.630del p.Leu211Tyrfs*45 Frameshift 5/10 - 1
1-241672015-G-T c.626C>A p.Pro209Gln Missense 5/10 - 1
1-241672018-A-C c.623T>G p.Leu208* Nonsense 5/10 - 1
1-241672036-T-A c.605A>T p.Glu202Val Missense 5/10 - 1
1-241672043-C-T c.598G>A p.Ala200Thr Missense 5/10 - 2
1-241672046-C-A c.595G>T p.Ala199Ser Missense 5/10 - 1
1-241672046-C-G c.595G>C p.Ala199Pro Missense 5/10 - 1
1-241672048-G-A c.593C>T p.Ala198Val Missense 5/10 - 1
1-241672049-C-G c.592G>C p.Ala198Pro Missense 5/10 - 1
1-241672054-T-A c.587A>T p.His196Leu Missense 5/10 - 1
1-241672054-T-C c.587A>G p.His196Arg Missense 5/10 - 4
1-241672054-T-G c.587A>C p.His196Pro Missense 5/10 - 1
1-241672057-A-G c.584T>C p.Met195Thr Missense 5/10 - 2
1-241672058-T-C c.583A>G p.Met195Val Missense 5/10 - 2
1-241672058-T-G c.583A>C p.Met195Leu Missense 5/10 - 1
1-241672063-G-A c.578C>T p.Thr193Ile Missense 5/10 - 1
1-241672066-G-A c.575C>T p.Pro192Leu Missense 5/10 - 2
1-241672078-T-C c.563A>G p.Asn188Ser Missense 5/10 - 2
1-241672078-T-G c.563A>C p.Asn188Thr Missense 5/10 - 1
1-241672079-T-C c.562A>G p.Asn188Asp Missense 5/10 - 1
1-241672081-G-A c.560C>T p.Ser187Leu Missense 5/10 - 1
1-241672081-G-C c.560C>G p.Ser187* Nonsense 5/10 - 2
1-241672081-G-T c.560C>A p.Ser187* Nonsense 5/10 - 2
1-241672087-T-A c.556-2A>T - IntronicSNV - 4/9 1
1-241675267-C-A c.555G>T p.Gln185His Missense 4/10 - 1
1-241675267-C-G c.555G>C p.Gln185His Missense 4/10 - 1
1-241675268-T-C c.554A>G p.Gln185Arg Missense 4/10 - 1
1-241675269-G-C c.553C>G p.Gln185Glu Missense 4/10 - 1
1-241675271-C-T c.551G>A p.Ser184Asn Missense 4/10 - 1
1-241675271-CT-GT c.551delinsC p.Ser184Thr Missense 4/10 - 1
1-241675272-T-A c.550A>T p.Ser184Cys Missense 4/10 - 1
1-241675275-TT-T c.550del p.Ser184Alafs*18 Frameshift 4/10 - 1
1-241675279-AAC-ATG c.541_542delinsCA p.Val181His Missense 4/10 - 2
1-241675281-C-T c.541G>A p.Val181Ile Missense 4/10 - 1
1-241675283-T-C c.539A>G p.His180Arg Missense 4/10 - 2
1-241675287-C-A c.535G>T p.Asp179Tyr Missense 4/10 - 1
1-241675289-TT-GC c.532_533delinsGC p.Asn178Ala Missense 4/10 - 1
1-241675292-G-A c.530C>T p.Pro177Leu Missense 4/10 - 3
1-241675295-TG-GC c.526_527delinsGC p.His176Ala Missense 4/10 - 1
1-241675297-CA-AC c.524_525delinsGT p.Val175Gly Missense 4/10 - 1
1-241675301-G-C c.521C>G p.Pro174Arg Missense 4/10 - 4
1-241675301-G-T c.521C>A p.Pro174His Missense 4/10 - 1
1-241675302-G-A c.520C>T p.Pro174Ser Missense 4/10 - 1
1-241675302-G-C c.520C>G p.Pro174Ala Missense 4/10 - 1
1-241675308-T-A c.514A>T p.Lys172* Nonsense 4/10 - 1
1-241675310-C-T c.512G>A p.Ser171Asn Missense 4/10 - 1
1-241675311-CTGC-C c.512_514del p.Ser171del InFrameDeletion 4/10 - 1
1-241675312-GCC-TGA c.508_510delinsTCA p.Gly170Ser Nonsense 4/10 - 1
1-241675319-T-TT c.504dup p.Leu169Thrfs*14 Frameshift 4/10 - 1
1-241675319-TT-T c.504del p.Glu168Aspfs*34 Frameshift 4/10 - 1
1-241675321-AC-AG c.500delinsC p.Gly167Ala Missense 4/10 - 1
1-241675325-C-T c.497G>A p.Gly166Glu Missense 4/10 - 1
1-241675326-C-A c.496G>T p.Gly166* Nonsense 4/10 - 1
1-241675341-C-A c.481G>T p.Ala161Ser Missense 4/10 - 4
1-241675342-TCT-CAT c.479_480delinsTG p.Arg160Met Missense 4/10 - 1
1-241675344-T-C c.478A>G p.Arg160Gly Missense 4/10 - 2
1-241675349-C-A c.473G>T p.Ser158Ile Missense 4/10 - 1
1-241675352-A-C c.470T>G p.Ile157Ser Missense 4/10 - 1
1-241675354-GA-AG c.467_468delinsCT p.Val156Ala Missense 4/10 - 1
1-241675355-AC-CG c.466_467delinsCG p.Val156Arg Missense 4/10 - 1
1-241675361-TT-TG c.460delinsC p.Asn154His Missense 4/10 - 1
1-241675365-AC-A c.457del p.Val153* Frameshift 4/10 - 1
1-241675367-T-C c.455A>G p.Asn152Ser Missense 4/10 - 2
1-241675370-CATATTTGTCTGAGTTCC-C c.437_453del p.Gly146Glufs*4 Frameshift 4/10 - 1
1-241675372-A-C c.450T>G p.Asn150Lys Missense 4/10 - 1
1-241675372-A-T c.450T>A p.Asn150Lys Missense 4/10 - 1
1-241675380-TG-T c.442del p.Gln148Argfs*4 Frameshift 4/10 - 1
1-241675388-G-C c.434C>G p.Ser145* Nonsense 4/10 - 1
1-241675395-T-C c.427A>G p.Thr143Ala Missense 4/10 - 2
1-241675397-T-C c.425A>G p.Gln142Arg Missense 4/10 - 2
1-241675397-T-TCA c.424_425insTG p.Gln142Leufs*11 Frameshift 4/10 - 1
1-241675398-G-T c.424C>A p.Gln142Lys Missense 4/10 - 1
1-241675404-C-T c.418G>A p.Val140Ile Missense 4/10 - 1
1-241675413-G-A c.409C>T p.Pro137Ser Missense 4/10 - 1
1-241675417-A-C c.405T>G p.His135Gln Missense 4/10 - 1
1-241675417-A-T c.405T>A p.His135Gln Missense 4/10 - 1
1-241675418-T-C c.404A>G p.His135Arg Missense 4/10 - 1
1-241675422-C-A c.400G>T p.Asp134Tyr Missense 4/10 - 1
1-241675431-T-G c.391A>C p.Lys131Gln Missense 4/10 - 1
1-241676908-C-CAGTC c.374_375insCTGA p.Glu126* Nonsense 3/10 - 1
1-241676914-C-T c.367G>A p.Ala123Thr Missense 3/10 - 1
1-241676923-T-C c.358A>G p.Ile120Val Missense 3/10 - 1
1-241676924-TT-T c.358del p.Ile120* Frameshift 3/10 - 1
1-241676929-T-G c.352A>C p.Asn118His Missense 3/10 - 1
1-241676931-GC-TG c.349_350delinsCA p.Ala117His Missense 3/10 - 1
1-241676932-C-G c.349G>C p.Ala117Pro Missense 3/10 - 1
1-241676932-C-T c.349G>A p.Ala117Thr Missense 3/10 - 1
1-241676935-T-A c.346A>T p.Ile116Phe Missense 3/10 - 1
1-241676937-T-G c.344A>C p.Lys115Thr Missense 3/10 - 1
1-241676942-A-AC c.338_339insG p.Asp113Glufs*6 Frameshift 3/10 - 1
1-241676952-T-A c.329A>T p.Tyr110Phe Missense 3/10 - 1
1-241676953-A-G c.328T>C p.Tyr110His Missense 3/10 - 1
1-241676959-TGGT-T c.321_323del p.Asn107_Gln108delinsLys MultiAAMissense 3/10 - 1
1-241676961-T-G c.320A>C p.Asn107Thr Missense 3/10 - 3
1-241676967-T-G c.314A>C p.Glu105Ala Missense 3/10 - 1
1-241676970-G-A c.311C>T p.Ala104Val Missense 3/10 - 1
1-241676971-C-T c.310G>A p.Ala104Thr Missense 3/10 - 1
1-241676976-G-C c.305C>G p.Ala102Gly Missense 3/10 - 1
1-241676977-C-G c.304G>C p.Ala102Pro Missense 3/10 - 1
1-241676979-C-G c.302G>C p.Arg101Pro Missense 3/10 - 1
1-241676979-C-T c.302G>A p.Arg101Gln Missense 3/10 - 2
1-241676980-G-A c.301C>T p.Arg101* Nonsense 3/10 - 2
1-241676983-TT-T c.299del p.Lys100Serfs*7 Frameshift 3/10 - 1
1-241676987-G-A c.294C>T p.Ile98Ile Synonymous 3/10 - 1
1-241676987-G-T c.294C>A p.Ile98Ile Synonymous 3/10 - 1
1-241676991-C-G c.290G>C p.Gly97Ala Missense 3/10 - 1
1-241676993-A-G c.288T>C p.Phe96Phe Synonymous 3/10 - 1
1-241676994-A-AC c.286_287insG p.Phe96Cysfs*10 Frameshift 3/10 - 1
1-241676994-A-G c.287T>C p.Phe96Ser Missense 3/10 - 1
1-241676997-GC-TG c.283_284delinsCA p.Ala95His Missense 3/10 - 1
1-241676998-C-G c.283G>C p.Ala95Pro Missense 3/10 - 1
1-241677011-G-A c.270C>T p.Thr90Thr Synonymous 3/10 - 1
1-241677011-G-C c.270C>G p.Thr90Thr Synonymous 3/10 - 1
1-241677011-G-T c.270C>A p.Thr90Thr Synonymous 3/10 - 1
1-241678668-C-A c.268-1655G>T - IntronicSNV - 2/9 3
1-241678668-C-T c.268-1655G>A - IntronicSNV - 2/9 3
1-241679889-G-A c.267+593C>T - IntronicSNV - 2/9 1
1-241680483-TGGCATGCGTTCTGTCACACCT-T c.248_267+1del - SpliceDonorDeletion 2/10 - 1
1-241680484-G-GG c.266dup p.Thr90Asnfs*5 Frameshift 2/10 - 1
1-241680497-TCACACCTCCAATCT-T c.240_253del p.Lys80Asnfs*10 Frameshift 2/10 - 1
1-241680500-AC-AG c.248delinsC p.Gly83Ala Missense 2/10 - 1
1-241680500-ACC-CAA c.247_249delinsTTG p.Gly83Leu Missense 2/10 - 1
1-241680503-TCC-AGC c.245_246delinsCT p.Gly82Ala Missense 2/10 - 1
1-241680505-CC-C c.245del p.Gly82Glufs*3 Frameshift 2/10 - 1
1-241680511-T-TT c.239dup p.Ile81Aspfs*14 Frameshift 2/10 - 1
1-241680512-A-G c.237T>C p.Phe79Phe Synonymous 2/10 - 1
1-241680515-G-T c.234C>A p.Asn78Lys Missense 2/10 - 1
1-241680517-T-C c.232A>G p.Asn78Asp Missense 2/10 - 1
1-241680517-TT-T c.233del p.Asn78Thrfs*7 Frameshift 2/10 - 1
1-241680521-CGT-TAT c.227_228delinsTA p.Thr76Ile Missense 2/10 - 1
1-241680525-GA-CA c.224delinsG p.Ser75Cys Missense 2/10 - 1
1-241680526-A-C c.223T>G p.Ser75Ala Missense 2/10 - 1
1-241680534-G-T c.215C>A p.Thr72Asn Missense 2/10 - 1
1-241680540-G-A c.209C>T p.Ala70Val Missense 2/10 - 1
1-241680541-C-T c.208G>A p.Ala70Thr Missense 2/10 - 1
1-241680543-C-A c.206G>T p.Gly69Val Missense 2/10 - 1
1-241680546-T-A c.203A>T p.Tyr68Phe Missense 2/10 - 1
1-241680554-A-AA c.195dup p.Lys66* Nonsense 2/10 - 1
1-241680556-C-T c.193G>A p.Asp65Asn Missense 2/10 - 2
1-241680557-CA-C c.192del p.Asn64Lysfs*10 Frameshift 2/10 - 2
1-241680558-T-C c.191A>G p.Asn64Ser Missense 2/10 - 1
1-241680558-T-G c.191A>C p.Asn64Thr Missense 2/10 - 6
1-241680563-CAC-ATC c.185_186delinsAT p.Val62Asp Missense 2/10 - 15
1-241680565-C-T c.184G>A p.Val62Met Missense 2/10 - 8
1-241680575-ACC-AAG c.172_173delinsCT p.Gly58Leu Missense 2/10 - 1
1-241680576-C-G c.173G>C p.Gly58Ala Missense 2/10 - 1
1-241680582-G-T c.167C>A p.Thr56Asn Missense 2/10 - 1
1-241680587-CATATTCTATCC-C c.153_163del p.Ile52Tyrfs*4 Frameshift 2/10 - 1
1-241680592-C-A c.157G>T p.Glu53* Nonsense 2/10 - 1
1-241680595-T-C c.154A>G p.Ile52Val Missense 2/10 - 1
1-241680598-G-A c.151C>T p.Arg51Trp Missense 2/10 - 1
1-241680605-AA-A c.145del p.Ser49Profs*4 Frameshift 2/10 - 1
1-241680610-G-A c.139C>T p.Gln47* Nonsense 2/10 - 1
1-241680612-C-T c.137G>A p.Ser46Asn Missense 2/10 - 1
1-241680614-T-A c.135A>T p.Ala45Ala Synonymous 2/10 - 1
1-241680614-T-C c.135A>G p.Ala45Ala Synonymous 2/10 - 1
1-241680614-T-G c.135A>C p.Ala45Ala Synonymous 2/10 - 1
1-241680614-TG-AC c.134_135delinsGT p.Ala45Gly Missense 2/10 - 2
1-241680614-TGC-TTT c.133_134delinsAA p.Ala45Lys Missense 2/10 - 1
1-241682898-G-T c.125C>A p.Ala42Asp Missense 1/10 - 2
1-241682900-CCGCGTTCG-C c.116_123del p.Pro39Argfs*14 Frameshift 1/10 - 1
1-241682900-CGC-TGT c.121_123delinsACA p.Ala41Thr Missense 1/10 - 1
1-241682905-T-C c.118A>G p.Asn40Asp Missense 1/10 - 1
1-241682909-AGG-AAG c.113delinsT p.Pro38Leu Missense 1/10 - 1
1-241682911-G-A c.112C>T p.Pro38Ser Missense 1/10 - 1
1-241682911-G-GT c.111_112insA p.Pro38Thrfs*18 Frameshift 1/10 - 2
1-241682915-AAA-ATG c.106_107delinsCA p.Phe36His Missense 1/10 - 1
1-241682916-AAACGAGGGCA-A c.99_108del p.Pro34Glyfs*16 Frameshift 1/10 - 1
1-241682916-AA-GA c.107delinsC p.Phe36Ser Missense 1/10 - 1
1-241682916-A-C c.107T>G p.Phe36Cys Missense 1/10 - 1
1-241682915-A-C c.108T>G p.Phe36Leu Missense 1/10 - 1
1-241682915-A-T c.108T>A p.Phe36Leu Missense 1/10 - 1
1-241682917-A-C c.106T>G p.Phe36Val Missense 1/10 - 1
1-241682917-A-G c.106T>C p.Phe36Leu Missense 1/10 - 1
1-241682921-G-T c.102C>A p.Pro34Pro Synonymous 1/10 - 1
1-241682922-GGGCACGGCCG-G c.93_102del p.Ala32Argfs*18 Frameshift 1/10 - 1
1-241682923-G-A c.100C>T p.Pro34Ser Missense 1/10 - 1
1-241682932-C-G c.91G>C p.Ala31Pro Missense 1/10 - 1
1-241682935-C-G c.88G>C p.Gly30Arg Missense 1/10 - 2
1-241682936-ACC-TGA c.85_87delinsTCA p.Gly29Ser Nonsense 1/10 - 1
1-241682936-CACCCAAGCC-C c.82_90del p.Leu28_Gly30del InFrameDeletion 1/10 - 1
1-241682937-C-G c.86G>C p.Gly29Ala Missense 1/10 - 1
1-241682940-AA-CC c.82_83delinsGG p.Leu28Gly Missense 1/10 - 2
1-241682946-G-A c.77C>T p.Pro26Leu Missense 1/10 - 2
1-241682947-G-A c.76C>T p.Pro26Ser Missense 1/10 - 1
1-241682948-A-C c.75T>G p.Ala25Ala Synonymous 1/10 - 1
1-241682948-A-G c.75T>C p.Ala25Ala Synonymous 1/10 - 1
1-241682948-A-T c.75T>A p.Ala25Ala Synonymous 1/10 - 1
1-241682950-C-T c.73G>A p.Ala25Thr Missense 1/10 - 1
1-241682952-G-A c.71C>T p.Ser24Leu Missense 1/10 - 1
1-241682955-GC-TG c.67_68delinsCA p.Ala23His Missense 1/10 - 1
1-241682955-G-GT c.67_68insA p.Ala23Aspfs*33 Frameshift 1/10 - 1
1-241682960-GGC-TAA c.61_63delinsTTA p.Ala21Leu Nonsense 1/10 - 1
1-241682961-G-C c.62C>G p.Ala21Gly Missense 1/10 - 1
1-241682963-T-A c.60A>T p.Ala20Ala Synonymous 1/10 - 1
1-241682963-T-C c.60A>G p.Ala20Ala Synonymous 1/10 - 1
1-241682963-T-G c.60A>C p.Ala20Ala Synonymous 1/10 - 1
1-241682963-TGC-TTT c.58_59delinsAA p.Ala20Lys Missense 1/10 - 1
1-241682964-GC-AG c.58_59delinsCT p.Ala20Leu Missense 1/10 - 1
1-241682965-C-T c.58G>A p.Ala20Thr Missense 1/10 - 2
1-241682968-C-A c.55G>T p.Ala19Ser Missense 1/10 - 1
1-241682970-G-A c.53C>T p.Pro18Leu Missense 1/10 - 2
1-241682970-GG-GA c.52delinsT p.Pro18Ser Missense 1/10 - 1
1-241682973-GC-TT c.49_50delinsAA p.Ala17Asn Missense 1/10 - 1
1-241682984-GGG-AAG c.38_39delinsTT p.Pro13Leu Missense 1/10 - 8
1-241682990-CGA-GAC c.31_33delinsGTC p.Ser11Val Missense 1/10 - 1
1-241682990-CG-GT c.32_33delinsAC p.Ser11Tyr Missense 1/10 - 1
1-241682991-G-T c.32C>A p.Ser11* Nonsense 1/10 - 1
1-241682992-A-C c.31T>G p.Ser11Ala Missense 1/10 - 5
1-241682993-GCG-AAG c.29_30delinsTT p.Arg10Leu Missense 1/10 - 1
1-241682994-C-A c.29G>T p.Arg10Leu Missense 1/10 - 1
1-241682994-CG-TT c.28_29delinsAA p.Arg10Asn Missense 1/10 - 2
1-241682997-G-A c.26C>T p.Ala9Val Missense 1/10 - 1
1-241683013-C-T c.10G>A p.Ala4Thr Missense 1/10 - 1
1-241683014-TCG-TGT c.7_8delinsAC p.Arg3Thr Missense 1/10 - 1
1-241683016-G-A c.7C>T p.Arg3* Nonsense 1/10 - 1
1-241683016-G-C c.7C>G p.Arg3Gly Missense 1/10 - 1
1-241683020-C-A c.3G>T p.Met1? Missense 1/10 - 1
1-241683022-T-C c.1A>G p.Met1? Missense 1/10 - 1