MUTYH mutY DNA glycosylase

Canonical transcript: NM_012222

317 unique variant annotations were identified in 338 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
1-45795004-G-A c.1615C>T p.His539Tyr Missense 16/16 - 1
1-45795010-C-T c.1609G>A p.Asp537Asn Missense 16/16 - 1
1-45795027-C-G c.1592G>C p.Arg531Pro Missense 16/16 - 3
1-45795027-C-T c.1592G>A p.Arg531Gln Missense 16/16 - 3
1-45795030-A-G c.1589T>C p.Phe530Ser Missense 16/16 - 1
1-45795040-C-A c.1579G>T p.Asp527Tyr Missense 16/16 - 1
1-45795040-C-G c.1579G>C p.Asp527His Missense 16/16 - 1
1-45795040-C-T c.1579G>A p.Asp527Asn Missense 16/16 - 1
1-45795043-G-T c.1576C>A p.Leu526Met Missense 16/16 - 4
1-45795048-T-G c.1571A>C p.Gln524Pro Missense 16/16 - 1
1-45795059-GC-AA c.1559_1560delinsTT p.Arg520Leu Missense 16/16 - 2
1-45795060-C-T c.1559G>A p.Arg520His Missense 16/16 - 1
1-45795063-G-A c.1556C>T p.Pro519Leu Missense 16/16 - 1
1-45795075-C-T c.1544G>A p.Ser515Asn Missense 16/16 - 3
1-45795076-T-TA c.1542_1543insT p.Ser515* Nonsense 16/16 - 1
1-45795081-G-A c.1538C>T p.Pro513Leu Missense 16/16 - 1
1-45795084-G-A c.1535C>T p.Ser512Phe Missense 16/16 - 9
1-45795084-G-C c.1535C>G p.Ser512Cys Missense 16/16 - 8
1-45795102-TTTGGAACC-T c.1510_1517del p.Gly504Lysfs*22 SpliceAcceptorDeletion 16/16 - 1
1-45795103-T-TT c.1519dup p.Arg507Lysfs*22 Frameshift 16/16 - 1
1-45796115-G-A c.1509+73C>T - IntronicSNV - 15/15 2
1-45796195-G-A c.1502C>T p.Thr501Ile Missense 15/16 - 2
1-45796198-C-T c.1499G>A p.Gly500Glu Missense 15/16 - 2
1-45796200-T-TT c.1497dup p.Gly500Argfs*29 Frameshift 15/16 - 1
1-45796202-G-A c.1495C>T p.Pro499Ser Missense 15/16 - 1
1-45796203-C-A c.1494G>T p.Gln498His Missense 15/16 - 2
1-45796203-C-G c.1494G>C p.Gln498His Missense 15/16 - 2
1-45796204-T-C c.1493A>G p.Gln498Arg Missense 15/16 - 1
1-45796208-G-C c.1489C>G p.Gln497Glu Missense 15/16 - 1
1-45796214-G-C c.1483C>G p.Gln495Glu Missense 15/16 - 1
1-45796214-G-GG c.1483dup p.Gln495Profs*34 Frameshift 15/16 - 1
1-45796218-CAC-TTT c.1477_1479delinsAAA p.Val493Lys Missense 15/16 - 3
1-45796220-C-A c.1477G>T p.Val493Leu Missense 15/16 - 1
1-45796220-C-G c.1477G>C p.Val493Leu Missense 15/16 - 1
1-45796269-G-C c.1468-40C>G - IntronicSNV - 14/15 8
1-45796354-G-T c.1468-125C>A - IntronicSNV - 14/15 1
1-45796863-G-A c.1458C>T p.Ala486Ala Synonymous 14/16 - 1
1-45796870-G-A c.1451C>T p.Ser484Phe Missense 14/16 - 1
1-45796881-G-A c.1440C>T p.Thr480Thr Synonymous 14/16 - 1
1-45796882-GGTG-G c.1438_1440del p.Thr480del InFrameDeletion 14/16 - 5
1-45796892-C-A c.1429G>T p.Glu477* Nonsense 14/16 - 1
1-45796898-G-A c.1423C>T p.Gln475* Nonsense 14/16 - 1
1-45796899-C-A c.1422G>T p.Thr474Thr Synonymous 14/16 - 1
1-45796899-C-G c.1422G>C p.Thr474Thr Synonymous 14/16 - 4
1-45796899-C-T c.1422G>A p.Thr474Thr Synonymous 14/16 - 4
1-45796906-C-G c.1415G>C p.Trp472Ser Missense 14/16 - 1
1-45796910-CGAGC-C c.1411_1414del p.Arg471Glyfs*2 Frameshift 14/16 - 1
1-45796910-G-A c.1411C>T p.Arg471Cys Missense 14/16 - 1
1-45796912-G-T c.1409C>A p.Ala470Asp Missense 14/16 - 1
1-45796913-C-T c.1408G>A p.Ala470Thr Missense 14/16 - 2
1-45796924-TACG-T c.1395_1397del p.Val466del InFrameDeletion 14/16 - 1
1-45796925-C-A c.1396G>T p.Val466Leu Missense 14/16 - 1
1-45796937-G-T c.1384C>A p.Pro462Thr Missense 14/16 - 1
1-45796940-T-A c.1381A>T p.Thr461Ser Missense 14/16 - 1
1-45796942-T-G c.1379A>C p.Gln460Pro Missense 14/16 - 1
1-45796943-G-A c.1378C>T p.Gln460* Nonsense 14/16 - 2
1-45796954-G-C c.1367C>G p.Ala456Gly Missense 14/16 - 1
1-45796995-G-C c.1326C>G p.Thr442Thr Synonymous 14/16 - 1
1-45797006-C-T c.1315G>A p.Val439Ile Missense 14/16 - 1
1-45797094-C-A c.1312G>T p.Glu438* Nonsense 13/16 - 1
1-45797112-G-C c.1294C>G p.His432Asp Missense 13/16 - 1
1-45797114-G-A c.1292C>T p.Thr431Met Missense 13/16 - 1
1-45797114-G-T c.1292C>A p.Thr431Lys Missense 13/16 - 1
1-45797124-G-A c.1282C>T p.Leu428Phe Missense 13/16 - 1
1-45797137-A-C c.1269T>G p.Arg423Arg Synonymous 13/16 - 1
1-45797137-AC-AA c.1268delinsT p.Arg423Leu Missense 13/16 - 1
1-45797137-A-G c.1269T>C p.Arg423Arg Synonymous 13/16 - 1
1-45797137-A-T c.1269T>A p.Arg423Arg Synonymous 13/16 - 1
1-45797138-C-G c.1268G>C p.Arg423Pro Missense 13/16 - 1
1-45797138-C-T c.1268G>A p.Arg423His Missense 13/16 - 1
1-45797139-G-A c.1267C>T p.Arg423Cys Missense 13/16 - 6
1-45797142-G-C c.1264C>G p.Gln422Glu Missense 13/16 - 1
1-45797157-G-C c.1249C>G p.Leu417Val Missense 13/16 - 4
1-45797157-G-T c.1249C>A p.Leu417Met Missense 13/16 - 5
1-45797160-C-G c.1246G>C p.Ala416Pro Missense 13/16 - 1
1-45797160-C-T c.1246G>A p.Ala416Thr Missense 13/16 - 1
1-45797166-G-A c.1240C>T p.Arg414Cys Missense 13/16 - 2
1-45797172-G-A c.1234C>T p.Leu412Phe Missense 13/16 - 2
1-45797174-T-A c.1232A>T p.Gln411Leu Missense 13/16 - 1
1-45797174-T-C c.1232A>G p.Gln411Arg Missense 13/16 - 1
1-45797175-G-A c.1231C>T p.Gln411* Nonsense 13/16 - 1
1-45797178-C-CA c.1227_1228insT p.Glu410* Nonsense 13/16 - 1
1-45797178-C-CCC c.1228_1229insGG p.Glu410Glyfs*40 Frameshift 13/16 - 6
1-45797187-C-T c.1219G>A p.Glu407Lys Missense 13/16 - 1
1-45797188-CC-CCCC c.1218_1219dup p.Glu407Glyfs*43 Frameshift 13/16 - 1
1-45797191-G-T c.1215C>A p.Thr405Thr Synonymous 13/16 - 1
1-45797192-G-A c.1214C>T p.Thr405Ile Missense 13/16 - 10
1-45797198-G-A c.1208C>T p.Ser403Phe Missense 13/16 - 1
1-45797201-G-A c.1205C>T p.Pro402Leu Missense 13/16 - 1
1-45797202-G-A c.1204C>T p.Pro402Ser Missense 13/16 - 1
1-45797214-G-A c.1192C>T p.Leu398Leu Synonymous 13/16 - 1
1-45797218-T-TCC c.1187_1188insGG p.Gly397Glufs*9 Frameshift 13/16 - 1
1-45797219-G-A c.1187C>T p.Ala396Val Missense 13/16 - 1
1-45797225-A-G c.1181T>C p.Leu394Pro Missense 13/16 - 1
1-45797228-C-T c.1178G>A p.Gly393Asp Missense 13/16 - 41
1-45797255-G-A c.1178-27C>T - IntronicSNV - 12/15 1
1-45797335-G-A c.1175C>T p.Ser392Leu Missense 12/16 - 1
1-45797344-CT-CA c.1165delinsT p.Arg389Trp Missense 12/16 - 1
1-45797346-C-A c.1164G>T p.Gln388His Missense 12/16 - 3
1-45797346-C-G c.1164G>C p.Gln388His Missense 12/16 - 3
1-45797348-G-A c.1162C>T p.Gln388* Nonsense 12/16 - 2
1-45797350-A-T c.1160T>A p.Val387Glu Missense 12/16 - 1
1-45797380-G-A c.1130C>T p.Pro377Leu Missense 12/16 - 2
1-45797389-A-G c.1121T>C p.Leu374Pro Missense 12/16 - 3
1-45797401-G-A c.1109C>T p.Ala370Val Missense 12/16 - 7
1-45797407-C-T c.1103G>A p.Ser368Asn Missense 12/16 - 2
1-45797410-CT-C c.1100del p.Glu367Glyfs*38 Frameshift 12/16 - 1
1-45797414-C-A c.1096G>T p.Glu366* Nonsense 12/16 - 1
1-45797414-C-T c.1096G>A p.Glu366Lys Missense 12/16 - 1
1-45797423-G-A c.1087C>T p.Pro363Ser Missense 12/16 - 1
1-45797428-CG-GC c.1081_1082delinsGC p.Arg361Ala Missense 12/16 - 2
1-45797428-C-T c.1082G>A p.Arg361His Missense 12/16 - 1
1-45797434-G-A c.1076C>T p.Ala359Val Missense 12/16 - 6
1-45797444-G-T c.1066C>A p.Pro356Thr Missense 12/16 - 2
1-45797448-G-C c.1062C>G p.Asn354Lys Missense 12/16 - 1
1-45797472-C-T c.1038G>A p.Trp346* Nonsense 12/16 - 1
1-45797476-G-A c.1034C>T p.Pro345Leu Missense 12/16 - 1
1-45797477-G-T c.1033C>A p.Pro345Thr Missense 12/16 - 1
1-45797481-C-A c.1029G>T p.Ser343Ser Synonymous 12/16 - 1
1-45797481-C-T c.1029G>A p.Ser343Ser Synonymous 12/16 - 1
1-45797482-G-A c.1028C>T p.Ser343Leu Missense 12/16 - 1
1-45797482-G-C c.1028C>G p.Ser343Trp Missense 12/16 - 1
1-45797485-GGGAGG-G c.1022_1026del p.Pro341Leufs*186 Frameshift 12/16 - 1
1-45797486-G-GTC c.1023_1024insGA p.Pro342Aspfs*64 Frameshift 12/16 - 1
1-45797489-G-A c.1021C>T p.Pro341Ser Missense 12/16 - 1
1-45797496-CA-GC c.1013_1014delinsGC p.Leu338Arg Missense 12/16 - 1
1-45797496-C-G c.1014G>C p.Leu338Leu Synonymous 12/16 - 11
1-45797505-C-A c.1005G>T p.Gln335His Missense 12/16 - 67
1-45797505-C-G c.1005G>C p.Gln335His Missense 12/16 - 68
1-45797506-T-A c.1004A>T p.Gln335Leu Missense 12/16 - 1
1-45797506-T-C c.1004A>G p.Gln335Arg Missense 12/16 - 1
1-45797518-GGGAG-G c.990_993del p.Pro331Thrfs*73 SpliceAcceptorDeletion 12/16 - 1
1-45797705-CAC-ATC c.977_978delinsAT p.Val326Asp Missense 11/16 - 1
1-45797713-G-C c.970C>G p.Pro324Ala Missense 11/16 - 1
1-45797718-C-T c.965G>A p.Gly322Asp Missense 11/16 - 1
1-45797737-GCTA-G c.944_946del p.Leu315_Ala316delinsSer MultiAAMissense 11/16 - 1
1-45797743-G-A c.940C>T p.Leu314Phe Missense 11/16 - 1
1-45797746-TGT-T c.937_938del p.Gln313Alafs*12 Frameshift 11/16 - 1
1-45797760-T-C c.925-2A>G - IntronicSNV - 10/15 10
1-45797831-G-A c.924+7C>T - IntronicSNV - 10/15 1
1-45797835-T-G c.924+3A>C - IntronicSNV - 10/15 2
1-45797839-C-T c.923G>A p.Arg308Lys Missense 10/16 - 1
1-45797842-T-C c.920A>G p.Gln307Arg Missense 10/16 - 1
1-45797843-G-A c.919C>T p.Gln307* Nonsense 10/16 - 1
1-45797844-G-C c.918C>G p.Arg306Arg Synonymous 10/16 - 1
1-45797844-GCG-TGA c.916_918delinsTCA p.Arg306Ser Nonsense 10/16 - 1
1-45797846-G-A c.916C>T p.Arg306Cys Missense 10/16 - 5
1-45797851-C-T c.911G>A p.Arg304Gln Missense 10/16 - 2
1-45797852-G-A c.910C>T p.Arg304Trp Missense 10/16 - 1
1-45797872-C-T c.890G>A p.Cys297Tyr Missense 10/16 - 1
1-45797878-C-T c.884G>A p.Ser295Asn Missense 10/16 - 1
1-45797881-C-T c.881G>A p.Cys294Tyr Missense 10/16 - 1
1-45797885-G-A c.877C>T p.Leu293Leu Synonymous 10/16 - 1
1-45797885-G-GGCACAGGCTCTCCACAGG c.877_878insCTGTGGAGAGCCTGTGCC p.Pro292_Leu293insProValGluSerLeuCys InFrameInsertion 10/16 - 1
1-45797887-G-A c.875C>T p.Pro292Leu Missense 10/16 - 1
1-45797890-C-T c.872G>A p.Arg291His Missense 10/16 - 1
1-45797914-C-A c.848G>T p.Gly283Val Missense 10/16 - 1
1-45797914-C-T c.848G>A p.Gly283Glu Missense 10/16 - 2
1-45797950-C-T c.812G>A p.Arg271Gln Missense 10/16 - 2
1-45797956-G-A c.806C>T p.Pro269Leu Missense 10/16 - 1
1-45797972-G-A c.790C>T p.Gln264* Nonsense 10/16 - 1
1-45797980-C-T c.782G>A p.Gly261Asp Missense 10/16 - 1
1-45798063-C-T c.779G>A p.Trp260* Nonsense 9/16 - 2
1-45798076-A-G c.766T>C p.Ser256Pro Missense 9/16 - 1
1-45798112-G-A c.730C>T p.Arg244* Nonsense 9/16 - 1
1-45798112-G-C c.730C>G p.Arg244Gly Missense 9/16 - 1
1-45798117-C-T c.725G>A p.Arg242His Missense 9/16 - 6
1-45798118-G-A c.724C>T p.Arg242Cys Missense 9/16 - 2
1-45798127-C-G c.715G>C p.Val239Leu Missense 9/16 - 1
1-45798127-C-T c.715G>A p.Val239Met Missense 9/16 - 3
1-45798130-G-A c.712C>T p.Arg238Trp Missense 9/16 - 5
1-45798138-T-G c.704A>C p.Asn235Thr Missense 9/16 - 2
1-45798142-C-T c.700G>A p.Gly234Ser Missense 9/16 - 1
1-45798146-CAC-TTT c.694_696delinsAAA p.Val232Lys Missense 9/16 - 12
1-45798148-C-A c.694G>T p.Val232Leu Missense 9/16 - 1
1-45798151-C-T c.691G>A p.Val231Met Missense 9/16 - 1
1-45798152-CA-C c.690del p.Val231Trpfs*6 Frameshift 9/16 - 1
1-45798157-T-A c.685A>T p.Thr229Ser Missense 9/16 - 1
1-45798157-T-C c.685A>G p.Thr229Ala Missense 9/16 - 1
1-45798246-C-T c.681G>A p.Gln227Gln Synonymous 8/16 - 1
1-45798260-T-C c.667A>G p.Ile223Val Missense 8/16 - 7
1-45798262-G-A c.665C>T p.Ser222Phe Missense 8/16 - 1
1-45798269-T-C c.658A>G p.Ile220Val Missense 8/16 - 7
1-45798286-C-T c.641G>A p.Arg214His Missense 8/16 - 1
1-45798288-C-A c.639G>T p.Gly213Gly Synonymous 8/16 - 2
1-45798288-C-G c.639G>C p.Gly213Gly Synonymous 8/16 - 2
1-45798288-C-T c.639G>A p.Gly213Gly Synonymous 8/16 - 2
1-45798291-CAC-TTT c.634_636delinsAAA p.Val212Lys Missense 8/16 - 1
1-45798291-C-T c.636G>A p.Val212Val Synonymous 8/16 - 1
1-45798329-G-A c.598C>T p.Arg200Cys Missense 8/16 - 1
1-45798340-C-T c.587G>A p.Gly196Asp Missense 8/16 - 1
1-45798438-CCG-TGT c.562_564delinsACA p.Arg188Thr Missense 7/16 - 1
1-45798438-C-G c.564G>C p.Arg188Arg Synonymous 7/16 - 1
1-45798439-C-A c.563G>T p.Arg188Leu Missense 7/16 - 1
1-45798449-C-G c.553G>C p.Glu185Gln Missense 7/16 - 2
1-45798456-CC-AT c.545_546delinsAT p.Arg182His Missense 7/16 - 4
1-45798456-CCG-TGT c.544_546delinsACA p.Arg182Thr Missense 7/16 - 2
1-45798457-C-T c.545G>A p.Arg182Gln Missense 7/16 - 4
1-45798458-G-A c.544C>T p.Arg182Trp Missense 7/16 - 2
1-45798458-G-C c.544C>G p.Arg182Gly Missense 7/16 - 1
1-45798459-CCG-TGT c.541_543delinsACA p.Arg181Thr Missense 7/16 - 1
1-45798461-G-A c.541C>T p.Arg181Trp Missense 7/16 - 1
1-45798464-C-T c.538G>A p.Gly180Ser Missense 7/16 - 1
1-45798466-C-A c.536G>T p.Arg179Leu Missense 7/16 - 1
1-45798466-C-G c.536G>C p.Arg179Pro Missense 7/16 - 1
1-45798466-C-T c.536G>A p.Arg179His Missense 7/16 - 1
1-45798467-G-A c.535C>T p.Arg179Cys Missense 7/16 - 1
1-45798475-T-C c.527A>G p.Tyr176Cys Missense 7/16 - 32
1-45798477-GC-AG c.524_525delinsCT p.Gly175Ala Missense 7/16 - 3
1-45798480-CC-C c.524del p.Gly175Alafs*17 Frameshift 7/16 - 1
1-45798481-A-G c.521T>C p.Leu174Pro Missense 7/16 - 1
1-45798482-G-A c.520C>T p.Leu174Leu Synonymous 7/16 - 1
1-45798494-G-A c.508C>T p.Leu170Phe Missense 7/16 - 1
1-45798502-A-C c.500T>G p.Val167Gly Missense 7/16 - 1
1-45798503-C-A c.499G>T p.Val167Leu Missense 7/16 - 1
1-45798503-C-T c.499G>A p.Val167Met Missense 7/16 - 1
1-45798518-A-C c.496-12T>G - IntronicSNV - 6/15 1
1-45798555-T-C c.495+35A>G - IntronicSNV - 6/15 16
1-45798591-T-C c.494A>G p.Glu165Gly Missense 6/16 - 18
1-45798601-C-T c.484G>A p.Ala162Thr Missense 6/16 - 1
1-45798606-G-A c.479C>T p.Ala160Val Missense 6/16 - 1
1-45798606-G-C c.479C>G p.Ala160Gly Missense 6/16 - 1
1-45798613-C-G c.472G>C p.Asp158His Missense 6/16 - 1
1-45798624-G-A c.461C>T p.Pro154Leu Missense 6/16 - 1
1-45798625-G-A c.460C>T p.Pro154Ser Missense 6/16 - 1
1-45798627-C-A c.458G>T p.Trp153Leu Missense 6/16 - 1
1-45798627-C-T c.458G>A p.Trp153* Nonsense 6/16 - 2
1-45798770-T-C c.452A>G p.Gln151Arg Missense 5/16 - 1
1-45798780-C-T c.442G>A p.Gly148Arg Missense 5/16 - 1
1-45798781-G-A c.441C>T p.Thr147Thr Synonymous 5/16 - 1
1-45798781-G-C c.441C>G p.Thr147Thr Synonymous 5/16 - 1
1-45798781-G-T c.441C>A p.Thr147Thr Synonymous 5/16 - 1
1-45798800-G-A c.422C>T p.Thr141Ile Missense 5/16 - 1
1-45798831-C-G c.391G>C p.Glu131Gln Missense 5/16 - 1
1-45798833-GA-GG c.388delinsC p.Ser130Pro Missense 5/16 - 1
1-45798957-C-T c.379G>A p.Val127Met Missense 4/16 - 1
1-45798966-C-T c.370G>A p.Ala124Thr Missense 4/16 - 1
1-45798975-C-T c.361G>A p.Asp121Asn Missense 4/16 - 1
1-45798981-C-T c.355G>A p.Asp119Asn Missense 4/16 - 1
1-45798987-C-T c.349G>A p.Glu117Lys Missense 4/16 - 1
1-45798990-C-T c.346G>A p.Asp116Asn Missense 4/16 - 1
1-45798995-G-A c.341C>T p.Ala114Val Missense 4/16 - 2
1-45799074-C-T c.339+11G>A - IntronicSNV - 3/15 1
1-45799083-A-G c.339+2T>C - IntronicSNV - 3/15 1
1-45799092-C-T c.332G>A p.Arg111Lys Missense 3/16 - 1
1-45799092-CT-CA c.331delinsT p.Arg111* Missense 3/16 - 1
1-45799099-G-A c.325C>T p.Pro109Ser Missense 3/16 - 3
1-45799099-G-C c.325C>G p.Pro109Ala Missense 3/16 - 1
1-45799105-C-G c.319G>C p.Asp107His Missense 3/16 - 1
1-45799118-G-A c.306C>T p.Asp102Asp Synonymous 3/16 - 1
1-45799121-G-A c.303C>T p.Tyr101Tyr Synonymous 3/16 - 1
1-45799121-G-C c.303C>G p.Tyr101* Nonsense 3/16 - 1
1-45799121-G-T c.303C>A p.Tyr101* Nonsense 3/16 - 1
1-45799124-C-CGTT c.299_300insAAC p.Trp100delins* Nonsense 3/16 - 1
1-45799125-C-T c.299G>A p.Trp100* Nonsense 3/16 - 1
1-45799143-C-T c.281G>A p.Arg94Gln Missense 3/16 - 1
1-45799144-G-A c.280C>T p.Arg94* Nonsense 3/16 - 2
1-45799152-G-A c.272C>T p.Thr91Ile Missense 3/16 - 1
1-45799154-G-T c.270C>A p.Val90Val Synonymous 3/16 - 1
1-45799170-C-G c.254G>C p.Arg85Thr Missense 3/16 - 1
1-45799171-T-A c.253A>T p.Arg85* Nonsense 3/16 - 1
1-45799192-C-T c.232G>A p.Val78Ile Missense 3/16 - 1
1-45799197-G-A c.227C>T p.Ala76Val Missense 3/16 - 1
1-45799207-C-T c.217G>A p.Val73Ile Missense 3/16 - 1
1-45799215-T-C c.209A>G p.Glu70Gly Missense 3/16 - 1
1-45799216-C-A c.208G>T p.Glu70* Nonsense 3/16 - 1
1-45799216-C-T c.208G>A p.Glu70Lys Missense 3/16 - 1
1-45799219-G-A c.205C>T p.Pro69Ser Missense 3/16 - 1
1-45799227-G-C c.197C>G p.Ala66Gly Missense 3/16 - 1
1-45799237-C-G c.187G>C p.Ala63Pro Missense 3/16 - 1
1-45799243-C-CA c.180_181insT p.Ala61Cysfs*29 Frameshift 3/16 - 1
1-45799257-AG-A c.167del p.Ala56Valfs*32 Frameshift 3/16 - 1
1-45799266-C-G c.158G>C p.Gly53Ala Missense 3/16 - 1
1-45799267-C-T c.158-1G>A - IntronicSNV - 2/15 1
1-45799269-G-A c.158-3C>T - IntronicSNV - 2/15 1
1-45800033-T-C c.157+30A>G - IntronicSNV - 2/15 5
1-45800079-C-T c.141G>A p.Lys47Lys Synonymous 2/16 - 1
1-45800083-G-A c.137C>T p.Ala46Val Missense 2/16 - 1
1-45800092-T-C c.128A>G p.Asn43Ser Missense 2/16 - 1
1-45800095-T-C c.125A>G p.Asn42Ser Missense 2/16 - 1
1-45800096-T-C c.124A>G p.Asn42Asp Missense 2/16 - 1
1-45800097-C-T c.123G>A p.Lys41Lys Synonymous 2/16 - 1
1-45800102-C-T c.118G>A p.Ala40Thr Missense 2/16 - 1
1-45800110-T-G c.110A>C p.Gln37Pro Missense 2/16 - 1
1-45800129-C-G c.91G>C p.Ala31Pro Missense 2/16 - 1
1-45800142-G-A c.78C>T p.His26His Synonymous 2/16 - 1
1-45800142-G-T c.78C>A p.His26Gln Missense 2/16 - 1
1-45800146-C-T c.74G>A p.Gly25Asp Missense 2/16 - 16
1-45800150-T-C c.70A>G p.Ser24Gly Missense 2/16 - 1
1-45800151-TTCC-T c.67_69del p.Gly23del InFrameDeletion 2/16 - 1
1-45800156-C-A c.64G>T p.Val22Leu Missense 2/16 - 17
1-45800156-C-T c.64G>A p.Val22Met Missense 2/16 - 45
1-45800158-G-A c.62C>T p.Ala21Val Missense 2/16 - 1
1-45800158-G-T c.62C>A p.Ala21Asp Missense 2/16 - 1
1-45800164-C-T c.56G>A p.Arg19Gln Missense 2/16 - 2
1-45800165-G-A c.55C>T p.Arg19* Nonsense 2/16 - 7
1-45800167-G-A c.53C>T p.Pro18Leu Missense 2/16 - 17
1-45800175-CA-GC c.44_45delinsGC p.Met15Ser Missense 2/16 - 1
1-45800177-T-C c.43A>G p.Met15Val Missense 2/16 - 1
1-45800181-G-A c.39C>T p.Ala13Ala Synonymous 2/16 - 1
1-45800183-C-T c.37G>A p.Ala13Thr Missense 2/16 - 2
1-45802670-A-C c.37-2487T>G - IntronicSNV - 1/15 11
1-45803413-A-G c.36+2478T>C - IntronicSNV - 1/15 7
1-45804050-C-T c.36+1841G>A - IntronicSNV - 1/15 6
1-45805566-G-A c.36+325C>T - IntronicSNV - 1/15 3
1-45805566-G-C c.36+325C>G - IntronicSNV - 1/15 3
1-45805566-G-T c.36+325C>A - IntronicSNV - 1/15 3
1-45805816-G-C c.36+75C>G - IntronicSNV - 1/15 1
1-45805880-G-A c.36+11C>T - IntronicSNV - 1/15 2
1-45805880-G-C c.36+11C>G - IntronicSNV - 1/15 1
1-45805917-G-A c.10C>T p.Leu4Phe Missense 1/16 - 1
1-45805921-T-A c.6A>T p.Thr2Thr Synonymous 1/16 - 1
1-45805921-T-C c.6A>G p.Thr2Thr Synonymous 1/16 - 1
1-45805921-T-G c.6A>C p.Thr2Thr Synonymous 1/16 - 1
1-45805922-G-T c.5C>A p.Thr2Lys Missense 1/16 - 1
1-45806053-G-A c.-127C>T - 5-UTRSNV 1/16 - 3
1-45806053-G-T c.-127C>A - 5-UTRSNV 1/16 - 3