ClinVar Miner

List of variants studied for autosomal dominant nonsyndromic hearing loss by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (118):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2719
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HGVS dbSNP gnomAD frequency
NM_001614.5(ACTG1):c.918C>T (p.Tyr306=) rs1139405 0.75861
NM_005219.5(DIAPH1):c.1461+20G>A rs2302103 0.67950
NM_001614.5(ACTG1):c.363+13C>A rs9910792 0.43644
NM_001614.5(ACTG1):c.930C>T (p.Ala310=) rs1135989 0.30776
NM_001199107.2(TBC1D24):c.207T>C (p.Pro69=) rs13339237 0.06245
NM_005219.5(DIAPH1):c.117+14C>T rs2074913 0.05773
NM_001614.5(ACTG1):c.1026T>C (p.Gly342=) rs1139406 0.04214
NM_001614.5(ACTG1):c.1014G>A (p.Ser338=) rs1139807 0.04188
NM_001614.5(ACTG1):c.1128A>G (p.Ter376=) rs11549223 0.04188
NM_005219.5(DIAPH1):c.390C>T (p.Tyr130=) rs34296458 0.03749
NM_001199107.2(TBC1D24):c.1440G>A (p.Ser480=) rs12373107 0.02286
NM_005219.5(DIAPH1):c.3579C>T (p.Gly1193=) rs2302102 0.02275
NM_001199107.2(TBC1D24):c.1143-6C>T rs73490287 0.02047
NM_001199107.2(TBC1D24):c.1526-20C>T rs114367256 0.01755
NM_001614.5(ACTG1):c.399C>T (p.Tyr133=) rs2230158 0.01567
NM_001614.5(ACTG1):c.729C>T (p.Pro243=) rs2230159 0.01563
NM_001614.5(ACTG1):c.177G>A (p.Gln59=) rs11549220 0.01161
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) rs189089167 0.01110
NM_001614.5(ACTG1):c.124-14G>A rs115307446 0.01103
NM_005219.5(DIAPH1):c.3765G>A (p.Glu1255=) rs35755269 0.00955
NM_005219.5(DIAPH1):c.621-19T>C rs181224861 0.00828
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728 0.00609
NM_005219.5(DIAPH1):c.1045-20T>A rs75686999 0.00527
NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr) rs111033338 0.00452
NM_005219.5(DIAPH1):c.3227T>G (p.Phe1076Cys) rs143763573 0.00356
NM_005219.5(DIAPH1):c.891G>A (p.Pro297=) rs116463365 0.00354
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=) rs201059992 0.00334
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841 0.00324
NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys) rs143766955 0.00312
NM_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met) rs61731477 0.00306
NM_001199107.2(TBC1D24):c.1427C>A (p.Ala476Asp) rs202216463 0.00304
NM_001110219.3(GJB6):c.489G>A (p.Leu163=) rs35002004 0.00300
NM_001614.5(ACTG1):c.714G>A (p.Lys238=) rs11549173 0.00287
NM_001614.5(ACTG1):c.780G>A (p.Ala260=) rs140846345 0.00287
NM_001614.5(ACTG1):c.471C>T (p.Asp157=) rs11549222 0.00264
NM_001110219.3(GJB6):c.476A>G (p.Asn159Ser) rs35277762 0.00237
NM_005219.5(DIAPH1):c.1407T>C (p.Ile469=) rs75860159 0.00222
NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu) rs201060500 0.00216
NM_005219.5(DIAPH1):c.1985G>A (p.Gly662Asp) rs200735096 0.00207
NM_001199107.2(TBC1D24):c.441C>T (p.Asp147=) rs149371169 0.00200
NM_001614.5(ACTG1):c.684C>T (p.Ala228=) rs143125497 0.00195
NM_001614.5(ACTG1):c.985-5T>C rs370546734 0.00176
NM_001614.5(ACTG1):c.803-6C>T rs199600452 0.00164
NM_001199107.2(TBC1D24):c.1142+17C>A rs199499346 0.00163
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys) rs141399869 0.00163
NM_001199107.2(TBC1D24):c.1002C>T (p.Ala334=) rs184389316 0.00160
NM_001199107.2(TBC1D24):c.493G>A (p.Gly165Ser) rs200926225 0.00160
NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His) rs182139018 0.00147
NM_001614.5(ACTG1):c.18C>T (p.Ala6=) rs145211830 0.00128
NM_005219.5(DIAPH1):c.1423G>A (p.Glu475Lys) rs193036129 0.00123
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520 0.00121
NM_001110219.3(GJB6):c.358G>A (p.Asp120Asn) rs193292569 0.00120
NM_001110219.3(GJB6):c.15G>A (p.Thr5=) rs150075979 0.00113
NM_001199107.2(TBC1D24):c.657G>A (p.Glu219=) rs587781187 0.00109
NM_005219.5(DIAPH1):c.2067A>C (p.Pro689=) rs876657451 0.00108
NM_001614.5(ACTG1):c.72C>T (p.Asp24=) rs139517777 0.00107
NM_001614.5(ACTG1):c.1029C>T (p.Gly343=) rs143659814 0.00106
NM_001614.5(ACTG1):c.531T>C (p.Arg177=) rs143851458 0.00106
NM_005219.5(DIAPH1):c.2437G>A (p.Ala813Thr) rs147203145 0.00088
NM_001614.5(ACTG1):c.39C>T (p.Gly13=) rs146865914 0.00087
NM_001110219.3(GJB6):c.607A>G (p.Met203Val) rs200674715 0.00086
NM_001614.5(ACTG1):c.877C>T (p.Leu293=) rs143205514 0.00078
NM_005982.4(SIX1):c.330G>A (p.Arg110=) rs73309461 0.00078
NM_001199107.2(TBC1D24):c.1473C>G (p.Pro491=) rs370427146 0.00071
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356 0.00068
NM_001614.5(ACTG1):c.363+5G>A rs116329164 0.00061
NM_001110219.3(GJB6):c.405G>A (p.Thr135=) rs145438428 0.00056
NM_001614.5(ACTG1):c.228C>T (p.Val76=) rs143028649 0.00055
NM_005219.5(DIAPH1):c.1748C>G (p.Pro583Arg) rs201719002 0.00055
NM_001614.5(ACTG1):c.1017G>C (p.Val339=) rs111305526 0.00053
NM_001614.5(ACTG1):c.774G>A (p.Pro258=) rs61997068 0.00053
NM_001614.5(ACTG1):c.105C>T (p.Val35=) rs11549193 0.00048
NM_005219.5(DIAPH1):c.2011G>A (p.Gly671Arg) rs766804741 0.00048
NM_001614.5(ACTG1):c.66T>G (p.Ala22=) rs149682185 0.00045
NM_001110219.3(GJB6):c.6T>C (p.Asp2=) rs200415730 0.00044
NM_005219.5(DIAPH1):c.3050T>C (p.Met1017Thr) rs376220834 0.00043
NM_005219.5(DIAPH1):c.2158C>T (p.Leu720Phe) rs200606811 0.00042
NM_005219.5(DIAPH1):c.2358+15C>G rs375375478 0.00042
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=) rs201374999 0.00038
NM_005219.5(DIAPH1):c.3574+10G>A rs200327015 0.00037
NM_005982.4(SIX1):c.615T>G (p.Pro205=) rs148433316 0.00037
NM_005219.5(DIAPH1):c.2224C>G (p.Pro742Ala) rs199749212 0.00036
NM_001199107.2(TBC1D24):c.1143-15G>A rs371213803 0.00035
NM_001199107.2(TBC1D24):c.1570C>T (p.Arg524Trp) rs78644690 0.00035
NM_001614.5(ACTG1):c.1107C>T (p.Ile369=) rs372665803 0.00035
NM_005219.5(DIAPH1):c.687T>C (p.Phe229=) rs201149420 0.00034
NM_005982.4(SIX1):c.402G>A (p.Lys134=) rs151189392 0.00034
NM_005219.5(DIAPH1):c.1784T>C (p.Ile595Thr) rs374299911 0.00033
NM_001110219.3(GJB6):c.212T>C (p.Val71Ala) rs200172266 0.00032
NM_001110219.3(GJB6):c.60C>T (p.Ile20=) rs778513540 0.00032
NM_005982.4(SIX1):c.578A>T (p.Asn193Ile) rs142301715 0.00032
NM_001110219.3(GJB6):c.177A>G (p.Gly59=) rs371123633 0.00031
NM_001199107.2(TBC1D24):c.179G>A (p.Arg60Gln) rs200226466 0.00031
NM_001614.5(ACTG1):c.180C>T (p.Ser60=) rs144338558 0.00031
NM_001614.5(ACTG1):c.364-8C>T rs201748657 0.00031
NM_005982.4(SIX1):c.162G>A (p.Ala54=) rs150550985 0.00031
NM_005219.5(DIAPH1):c.2032C>T (p.Pro678Ser) rs186370335 0.00030
NM_001614.5(ACTG1):c.126C>T (p.Gly42=) rs11549197 0.00029
NM_001614.5(ACTG1):c.1113C>T (p.His371=) rs117765323 0.00028
NM_001199107.2(TBC1D24):c.1038C>T (p.Ser346=) rs377697825 0.00026
NM_001199107.2(TBC1D24):c.22T>C (p.Cys8Arg) rs77585883 0.00024
NM_001614.5(ACTG1):c.654C>T (p.Tyr218=) rs182162229 0.00024
NM_001614.5(ACTG1):c.546C>T (p.Gly182=) rs61997063 0.00023
NM_005219.5(DIAPH1):c.685-5A>G rs367786290 0.00023
NM_001110219.3(GJB6):c.680C>T (p.Thr227Met) rs199790650 0.00022
NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His) rs199700840 0.00022
NM_001110219.3(GJB6):c.480G>A (p.Gly160=) rs145762940 0.00021
NM_001199107.2(TBC1D24):c.1074C>T (p.Pro358=) rs75961715 0.00021
NM_001199107.2(TBC1D24):c.1411G>A (p.Ala471Thr) rs377448015 0.00021
NM_001199107.2(TBC1D24):c.217G>A (p.Val73Met) rs370078844 0.00021
NM_001614.5(ACTG1):c.210C>T (p.Pro70=) rs201275526 0.00021
NM_001614.5(ACTG1):c.345C>T (p.Asn115=) rs149057480 0.00021
NM_001199107.2(TBC1D24):c.663C>T (p.Pro221=) rs148670169 0.00019
NM_001614.5(ACTG1):c.159C>T (p.Tyr53=) rs139751304 0.00019
NM_001614.5(ACTG1):c.803-3T>C rs369438865 0.00019
NM_005219.5(DIAPH1):c.300+12A>G rs201535699 0.00019
NM_001199107.2(TBC1D24):c.1503G>A (p.Gly501=) rs368735897 0.00018
NM_005219.5(DIAPH1):c.200C>T (p.Ala67Val) rs142480526 0.00018
NM_005982.4(SIX1):c.679G>T (p.Asp227Tyr) rs144481204 0.00018
NM_001614.5(ACTG1):c.825C>T (p.His275=) rs145303691 0.00017
NM_001614.5(ACTG1):c.870C>T (p.Arg290=) rs565983582 0.00017
NM_005219.5(DIAPH1):c.301-5C>T rs190481949 0.00017
NM_005219.5(DIAPH1):c.343G>A (p.Glu115Lys) rs371994484 0.00017
NM_005219.5(DIAPH1):c.969A>G (p.Thr323=) rs369453319 0.00017
NM_001199107.2(TBC1D24):c.1207-16C>G rs201618854 0.00016
NM_001199107.2(TBC1D24):c.340G>A (p.Val114Met) rs368575199 0.00016
NM_001199107.2(TBC1D24):c.492C>G (p.Pro164=) rs369172908 0.00016
NM_001614.5(ACTG1):c.978G>A (p.Lys326=) rs139339869 0.00016
NM_005219.5(DIAPH1):c.1269C>G (p.Asp423Glu) rs367981585 0.00016
NM_005219.5(DIAPH1):c.2778+10G>A rs374601448 0.00016
NM_005219.5(DIAPH1):c.3096C>T (p.Pro1032=) rs369299884 0.00016
NM_005219.5(DIAPH1):c.2107C>G (p.Pro703Ala) rs201433617 0.00015
NM_001110219.3(GJB6):c.781A>G (p.Ser261Gly) rs143962007 0.00014
NM_001614.5(ACTG1):c.201G>C (p.Leu67=) rs782754511 0.00014
NM_005219.5(DIAPH1):c.144+19G>A rs570074502 0.00014
NM_005219.5(DIAPH1):c.2677-14C>G rs377314966 0.00014
NM_005219.5(DIAPH1):c.2846A>G (p.Gln949Arg) rs775424355 0.00014
NM_005219.5(DIAPH1):c.3463C>T (p.Arg1155Trp) rs369467830 0.00014
NM_005219.5(DIAPH1):c.1701G>A (p.Ala567=) rs371791763 0.00013
NM_005219.5(DIAPH1):c.1964C>G (p.Pro655Arg) rs367669306 0.00013
NM_005219.5(DIAPH1):c.3230C>G (p.Pro1077Arg) rs376593325 0.00013
NM_005219.5(DIAPH1):c.3662-14G>A rs369935242 0.00013
NM_001199107.2(TBC1D24):c.1026G>A (p.Ser342=) rs370244846 0.00012
NM_001199107.2(TBC1D24):c.1620C>T (p.Ser540=) rs781723084 0.00011
NM_001199107.2(TBC1D24):c.447C>T (p.Ala149=) rs755794991 0.00011
NM_001199107.2(TBC1D24):c.871G>A (p.Ala291Thr) rs375307187 0.00011
NM_001614.5(ACTG1):c.561C>T (p.Asp187=) rs782649322 0.00011
NM_001614.5(ACTG1):c.687C>T (p.Thr229=) rs201036516 0.00011
NM_001614.5(ACTG1):c.984+7C>T rs369691985 0.00011
NM_005219.5(DIAPH1):c.1462-11T>C rs377546905 0.00011
NM_005219.5(DIAPH1):c.2427T>C (p.Asn809=) rs372347802 0.00011
NM_005219.5(DIAPH1):c.259G>A (p.Val87Ile) rs368889655 0.00011
NM_005219.5(DIAPH1):c.2886T>C (p.Ala962=) rs750444501 0.00011
NM_005219.5(DIAPH1):c.2924A>G (p.Asn975Ser) rs370849059 0.00011
NM_005219.5(DIAPH1):c.3313C>T (p.Arg1105Trp) rs781577050 0.00011
NM_005982.4(SIX1):c.180C>G (p.Arg60=) rs781519092 0.00011
NM_005219.5(DIAPH1):c.2436C>T (p.Phe812=) rs185113837 0.00010
NM_005219.5(DIAPH1):c.3574+6G>C rs538555634 0.00010
NM_001110219.3(GJB6):c.631T>G (p.Cys211Gly) rs141752846 0.00009
NM_001199107.2(TBC1D24):c.1302+14A>C rs528462687 0.00009
NM_001199107.2(TBC1D24):c.1456C>T (p.Arg486Cys) rs750028854 0.00009
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met) rs201649140 0.00009
NM_001614.5(ACTG1):c.1086C>T (p.Tyr362=) rs144114953 0.00009
NM_001614.5(ACTG1):c.124-17C>T rs374327916 0.00009
NM_001614.5(ACTG1):c.231C>T (p.Thr77=) rs375450454 0.00009
NM_001614.5(ACTG1):c.364-9C>T rs375907911 0.00009
NM_001614.5(ACTG1):c.45C>T (p.Gly15=) rs145574149 0.00009
NM_001614.5(ACTG1):c.564C>T (p.Tyr188=) rs141964376 0.00009
NM_001614.5(ACTG1):c.612C>T (p.Ala204=) rs368022367 0.00009
NM_001614.5(ACTG1):c.858C>T (p.Asp286=) rs201277295 0.00009
NM_001614.5(ACTG1):c.954C>T (p.Thr318=) rs3211110 0.00009
NM_005219.5(DIAPH1):c.1093T>C (p.Phe365Leu) rs750318437 0.00009
NM_005219.5(DIAPH1):c.117+8T>A rs548327056 0.00009
NM_005219.5(DIAPH1):c.1397-14C>T rs201444168 0.00009
NM_005219.5(DIAPH1):c.2079T>C (p.Pro693=) rs745739994 0.00009
NM_005219.5(DIAPH1):c.3051G>A (p.Met1017Ile) rs373275414 0.00009
NM_001110219.3(GJB6):c.672A>G (p.Arg224=) rs756597598 0.00008
NM_001199107.2(TBC1D24):c.1143-5G>A rs754105574 0.00008
NM_001199107.2(TBC1D24):c.1425C>T (p.Pro475=) rs370869383 0.00008
NM_001199107.2(TBC1D24):c.343C>T (p.Arg115Cys) rs372531999 0.00008
NM_001614.5(ACTG1):c.364-20C>T rs138210010 0.00008
NM_001614.5(ACTG1):c.486G>A (p.Thr162=) rs782442814 0.00008
NM_001614.5(ACTG1):c.669C>T (p.Phe223=) rs373099591 0.00008
NM_001614.5(ACTG1):c.816C>T (p.Cys272=) rs376841359 0.00008
NM_005219.5(DIAPH1):c.1565C>T (p.Ala522Val) rs373896015 0.00008
NM_005219.5(DIAPH1):c.1571A>T (p.His524Leu) rs369527502 0.00008
NM_005219.5(DIAPH1):c.2036C>T (p.Pro679Leu) rs768743097 0.00008
NM_005219.5(DIAPH1):c.2463C>G (p.Ala821=) rs776449168 0.00008
NM_005982.4(SIX1):c.474C>T (p.Ala158=) rs199743522 0.00008
NM_001110219.3(GJB6):c.30C>T (p.Ile10=) rs377181573 0.00007
NM_001199107.2(TBC1D24):c.1207-6C>G rs749626631 0.00007
NM_001199107.2(TBC1D24):c.178C>T (p.Arg60Trp) rs373914077 0.00007
NM_001199107.2(TBC1D24):c.439G>A (p.Asp147Asn) rs267607103 0.00007
NM_001199107.2(TBC1D24):c.546G>A (p.Thr182=) rs182825122 0.00007
NM_001614.5(ACTG1):c.168C>T (p.Asp56=) rs368299537 0.00007
NM_001614.5(ACTG1):c.364-10C>T rs200552253 0.00007
NM_001614.5(ACTG1):c.981C>A (p.Ile327=) rs782329552 0.00007
NM_005219.5(DIAPH1):c.1700C>T (p.Ala567Val) rs752510907 0.00007
NM_005219.5(DIAPH1):c.2677-11C>T rs371556441 0.00007
NM_005219.5(DIAPH1):c.2902C>T (p.Arg968Cys) rs777195456 0.00007
NM_001110219.3(GJB6):c.119C>T (p.Ala40Val) rs780320724 0.00006
NM_001110219.3(GJB6):c.518C>T (p.Pro173Leu) rs200480676 0.00006
NM_001199107.2(TBC1D24):c.1039G>A (p.Val347Met) rs371031447 0.00006
NM_001199107.2(TBC1D24):c.1453G>A (p.Ala485Thr) rs774586263 0.00006
NM_001199107.2(TBC1D24):c.1525+6C>T rs758013935 0.00006
NM_001199107.2(TBC1D24):c.243C>T (p.Ile81=) rs745405784 0.00006
NM_001199107.2(TBC1D24):c.601G>A (p.Val201Met) rs537705878 0.00006
NM_001614.5(ACTG1):c.124-9C>T rs376850595 0.00006
NM_001614.5(ACTG1):c.165C>T (p.Gly55=) rs146402466 0.00006
NM_001614.5(ACTG1):c.22C>T (p.Leu8=) rs782795413 0.00006
NM_001614.5(ACTG1):c.267C>T (p.Thr89=) rs140398667 0.00006
NM_001614.5(ACTG1):c.318C>T (p.Thr106=) rs372370199 0.00006
NM_001614.5(ACTG1):c.351G>A (p.Glu117=) rs200772616 0.00006
NM_001614.5(ACTG1):c.363+7C>G rs782205549 0.00006
NM_001614.5(ACTG1):c.609G>A (p.Thr203=) rs148528303 0.00006
NM_001614.5(ACTG1):c.624C>T (p.Ile208=) rs370369574 0.00006
NM_001614.5(ACTG1):c.690C>T (p.Ala230=) rs11549213 0.00006
NM_001614.5(ACTG1):c.903C>T (p.Gly301=) rs201963572 0.00006
NM_005219.5(DIAPH1):c.1364G>A (p.Arg455Gln) rs200004048 0.00006
NM_005219.5(DIAPH1):c.1659G>A (p.Lys553=) rs200506473 0.00006
NM_005219.5(DIAPH1):c.217G>A (p.Ala73Thr) rs184081055 0.00006
NM_005219.5(DIAPH1):c.2800C>T (p.Arg934Trp) rs200688040 0.00006
NM_005219.5(DIAPH1):c.533+11T>C rs1230240485 0.00006
NM_005219.5(DIAPH1):c.621-18T>A rs372227402 0.00006
NM_005219.5(DIAPH1):c.627C>T (p.Tyr209=) rs369494682 0.00006
NM_005219.5(DIAPH1):c.80C>T (p.Pro27Leu) rs774909066 0.00006
NM_001199107.2(TBC1D24):c.1008del (p.His336fs) rs398122967 0.00005
NM_001199107.2(TBC1D24):c.1125C>T (p.His375=) rs749163517 0.00005
NM_001199107.2(TBC1D24):c.1392C>T (p.Thr464=) rs199865687 0.00005
NM_001199107.2(TBC1D24):c.1525+17G>A rs537260143 0.00005
NM_001199107.2(TBC1D24):c.483C>A (p.Cys161Ter) rs745800110 0.00005
NM_001199107.2(TBC1D24):c.58C>T (p.Gln20Ter) rs201257588 0.00005
NM_001199107.2(TBC1D24):c.592A>T (p.Met198Leu) rs779920318 0.00005
NM_001199107.2(TBC1D24):c.768C>T (p.Ala256=) rs778001053 0.00005
NM_001199107.2(TBC1D24):c.793G>A (p.Val265Met) rs772768393 0.00005
NM_001614.5(ACTG1):c.222C>T (p.Gly74=) rs368844224 0.00005
NM_001614.5(ACTG1):c.735C>T (p.Gly245=) rs186289501 0.00005
NM_001614.5(ACTG1):c.795C>T (p.Ser265=) rs146493032 0.00005
NM_001614.5(ACTG1):c.802+8T>G rs373268725 0.00005
NM_001614.5(ACTG1):c.924C>T (p.Gly308=) rs371738013 0.00005
NM_005219.5(DIAPH1):c.1213A>G (p.Lys405Glu) rs551450387 0.00005
NM_005219.5(DIAPH1):c.1577A>G (p.Glu526Gly) rs187899184 0.00005
NM_005219.5(DIAPH1):c.1753G>C (p.Ala585Pro) rs200973081 0.00005
NM_005219.5(DIAPH1):c.2103C>G (p.Pro701=) rs373613867 0.00005
NM_005219.5(DIAPH1):c.2199C>T (p.Pro733=) rs368848606 0.00005
NM_005219.5(DIAPH1):c.2358+17A>G rs543154317 0.00005
NM_005219.5(DIAPH1):c.2668A>G (p.Met890Val) rs200251893 0.00005
NM_005219.5(DIAPH1):c.3054G>A (p.Thr1018=) rs727502960 0.00005
NM_005219.5(DIAPH1):c.3148+3G>A rs374140734 0.00005
NM_005219.5(DIAPH1):c.3314G>A (p.Arg1105Gln) rs770668053 0.00005
NM_005219.5(DIAPH1):c.3450G>A (p.Lys1150=) rs373930400 0.00005
NM_005219.5(DIAPH1):c.3574+16G>A rs371127966 0.00005
NM_005219.5(DIAPH1):c.3574+8G>C rs372735919 0.00005
NM_005219.5(DIAPH1):c.579C>T (p.Asp193=) rs202061556 0.00005
NM_005219.5(DIAPH1):c.922A>G (p.Ile308Val) rs752555506 0.00005
NM_005982.4(SIX1):c.690G>C (p.Ser230=) rs571997198 0.00005
NM_001110219.3(GJB6):c.226C>T (p.Leu76=) rs180764573 0.00004
NM_001110219.3(GJB6):c.323G>A (p.Arg108Gln) rs771412904 0.00004
NM_001110219.3(GJB6):c.396G>A (p.Leu132=) rs189971962 0.00004
NM_001110219.3(GJB6):c.594G>A (p.Ala198=) rs763870146 0.00004
NM_001199107.2(TBC1D24):c.1142+14G>A rs745904419 0.00004
NM_001199107.2(TBC1D24):c.1341C>T (p.Ile447=) rs372317366 0.00004
NM_001199107.2(TBC1D24):c.1384G>A (p.Glu462Lys) rs368678094 0.00004
NM_001199107.2(TBC1D24):c.1426G>A (p.Ala476Thr) rs773304369 0.00004
NM_001199107.2(TBC1D24):c.1490T>C (p.Met497Thr) rs367710709 0.00004
NM_001199107.2(TBC1D24):c.1576C>T (p.Arg526Cys) rs767145914 0.00004
NM_001199107.2(TBC1D24):c.330C>T (p.Gly110=) rs779117497 0.00004
NM_001199107.2(TBC1D24):c.48C>T (p.Asp16=) rs555276293 0.00004
NM_001199107.2(TBC1D24):c.534G>A (p.Ser178=) rs144714321 0.00004
NM_001199107.2(TBC1D24):c.606G>A (p.Ser202=) rs61731478 0.00004
NM_001199107.2(TBC1D24):c.640C>T (p.Arg214Cys) rs760121083 0.00004
NM_001199107.2(TBC1D24):c.759G>A (p.Lys253=) rs190306450 0.00004
NM_001199107.2(TBC1D24):c.808C>T (p.Arg270Cys) rs375860324 0.00004
NM_001199107.2(TBC1D24):c.809G>A (p.Arg270His) rs545689324 0.00004
NM_001199107.2(TBC1D24):c.828C>T (p.Ile276=) rs764252146 0.00004
NM_001199107.2(TBC1D24):c.864A>G (p.Lys288=) rs777237669 0.00004
NM_001199107.2(TBC1D24):c.983+16T>A rs1355546058 0.00004
NM_001199107.2(TBC1D24):c.984-12C>T rs762896980 0.00004
NM_001614.5(ACTG1):c.255C>T (p.Ile85=) rs147001458 0.00004
NM_001614.5(ACTG1):c.363+9C>T rs200000684 0.00004
NM_001614.5(ACTG1):c.393C>T (p.Ala131=) rs11150794 0.00004
NM_001614.5(ACTG1):c.510C>T (p.Ala170=) rs558086995 0.00004
NM_001614.5(ACTG1):c.618G>A (p.Arg206=) rs375061969 0.00004
NM_001614.5(ACTG1):c.666C>T (p.Asp222=) rs376839455 0.00004
NM_001614.5(ACTG1):c.803-13C>T rs376658586 0.00004
NM_001614.5(ACTG1):c.81C>T (p.Pro27=) rs11549230 0.00004
NM_005219.5(DIAPH1):c.1045-11G>A rs755706494 0.00004
NM_005219.5(DIAPH1):c.1281-20C>A rs773242100 0.00004
NM_005219.5(DIAPH1):c.1461+18A>G rs1033883255 0.00004
NM_005219.5(DIAPH1):c.1587A>G (p.Gln529=) rs909731712 0.00004
NM_005219.5(DIAPH1):c.1915A>C (p.Ile639Leu) rs781398463 0.00004
NM_005219.5(DIAPH1):c.2041T>C (p.Leu681=) rs953060204 0.00004
NM_005219.5(DIAPH1):c.2200G>A (p.Gly734Arg) rs374788809 0.00004
NM_005219.5(DIAPH1):c.222A>G (p.Ser74=) rs930344993 0.00004
NM_005219.5(DIAPH1):c.2273C>T (p.Pro758Leu) rs762969077 0.00004
NM_005219.5(DIAPH1):c.2359-19A>T rs746608925 0.00004
NM_005219.5(DIAPH1):c.2414G>A (p.Arg805His) rs752824698 0.00004
NM_005219.5(DIAPH1):c.2538A>G (p.Val846=) rs973415272 0.00004
NM_005219.5(DIAPH1):c.2795G>T (p.Arg932Leu) rs370578225 0.00004
NM_005219.5(DIAPH1):c.280G>C (p.Val94Leu) rs757339076 0.00004
NM_005219.5(DIAPH1):c.3019-8T>C rs749822608 0.00004
NM_005219.5(DIAPH1):c.3149-15T>G rs781409283 0.00004
NM_005219.5(DIAPH1):c.3149-17T>G rs956779234 0.00004
NM_005219.5(DIAPH1):c.3175C>G (p.Leu1059Val) rs200394036 0.00004
NM_005219.5(DIAPH1):c.3661+12C>T rs754008936 0.00004
NM_005219.5(DIAPH1):c.3662-17C>T rs371640300 0.00004
NM_005219.5(DIAPH1):c.3662-4G>A rs756395607 0.00004
NM_005219.5(DIAPH1):c.3671A>G (p.Lys1224Arg) rs376832359 0.00004
NM_005219.5(DIAPH1):c.3809G>A (p.Arg1270His) rs371664456 0.00004
NM_005219.5(DIAPH1):c.453G>A (p.Glu151=) rs749681806 0.00004
NM_005219.5(DIAPH1):c.818A>G (p.Glu273Gly) rs756921782 0.00004
NM_005219.5(DIAPH1):c.975G>A (p.Ala325=) rs774957853 0.00004
NM_005982.4(SIX1):c.720C>T (p.His240=) rs759290962 0.00004
NM_005982.4(SIX1):c.816C>T (p.Leu272=) rs750377629 0.00004
NM_001110219.3(GJB6):c.228del (p.Trp77fs) rs751484173 0.00003
NM_001199107.2(TBC1D24):c.1010C>T (p.Ala337Val) rs1192131861 0.00003
NM_001199107.2(TBC1D24):c.1021C>T (p.Arg341Cys) rs1406095259 0.00003
NM_001199107.2(TBC1D24):c.1022G>A (p.Arg341His) rs754727069 0.00003
NM_001199107.2(TBC1D24):c.1025C>T (p.Ser342Leu) rs1159971280 0.00003
NM_001199107.2(TBC1D24):c.1049T>C (p.Met350Thr) rs1475264921 0.00003
NM_001199107.2(TBC1D24):c.1072C>A (p.Pro358Thr) rs368150932 0.00003
NM_001199107.2(TBC1D24):c.116C>A (p.Ala39Glu) rs773916549 0.00003
NM_001199107.2(TBC1D24):c.1322G>A (p.Arg441His) rs556865791 0.00003
NM_001199107.2(TBC1D24):c.1360A>G (p.Lys454Glu) rs758697406 0.00003
NM_001199107.2(TBC1D24):c.1410C>T (p.Ser470=) rs553497128 0.00003
NM_001199107.2(TBC1D24):c.1482C>G (p.Thr494=) rs373862230 0.00003
NM_001199107.2(TBC1D24):c.1483G>A (p.Glu495Lys) rs769751880 0.00003
NM_001199107.2(TBC1D24):c.1510G>A (p.Asp504Asn) rs767925237 0.00003
NM_001199107.2(TBC1D24):c.1526-13G>A rs766052989 0.00003
NM_001199107.2(TBC1D24):c.154G>A (p.Gly52Arg) rs751753013 0.00003
NM_001199107.2(TBC1D24):c.1633A>G (p.Ile545Val) rs773874436 0.00003
NM_001199107.2(TBC1D24):c.199G>C (p.Val67Leu) rs751738454 0.00003
NM_001199107.2(TBC1D24):c.210C>T (p.Asp70=) rs373872223 0.00003
NM_001199107.2(TBC1D24):c.225C>T (p.Ser75=) rs201220026 0.00003
NM_001199107.2(TBC1D24):c.279C>T (p.Pro93=) rs1021608042 0.00003
NM_001199107.2(TBC1D24):c.325C>T (p.Arg109Cys) rs372337277 0.00003
NM_001199107.2(TBC1D24):c.344G>A (p.Arg115His) rs201174513 0.00003
NM_001199107.2(TBC1D24):c.486T>A (p.Asn162Lys) rs886051845 0.00003
NM_001199107.2(TBC1D24):c.519C>T (p.Phe173=) rs763534843 0.00003
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) rs398122965 0.00003
NM_001199107.2(TBC1D24):c.731C>T (p.Ala244Val) rs375873110 0.00003
NM_001199107.2(TBC1D24):c.776C>A (p.Pro259Gln) rs779398267 0.00003
NM_001199107.2(TBC1D24):c.786G>A (p.Ser262=) rs371064617 0.00003
NM_001199107.2(TBC1D24):c.813G>A (p.Thr271=) rs527719763 0.00003
NM_001199107.2(TBC1D24):c.90T>C (p.Thr30=) rs575173753 0.00003
NM_001199107.2(TBC1D24):c.951C>T (p.Thr317=) rs766745103 0.00003
NM_001199107.2(TBC1D24):c.952G>A (p.Val318Met) rs370233833 0.00003
NM_001199107.2(TBC1D24):c.965+10C>T rs756687194 0.00003
NM_001199107.2(TBC1D24):c.984-5C>G rs535021783 0.00003
NM_001614.5(ACTG1):c.1053C>T (p.Thr351=) rs148267855 0.00003
NM_001614.5(ACTG1):c.1095G>A (p.Ser365=) rs201121917 0.00003
NM_001614.5(ACTG1):c.1122C>T (p.Cys374=) rs369020026 0.00003
NM_001614.5(ACTG1):c.498C>T (p.Tyr166=) rs373572370 0.00003
NM_001614.5(ACTG1):c.534G>A (p.Leu178=) rs140035543 0.00003
NM_001614.5(ACTG1):c.657C>T (p.Val219=) rs782248094 0.00003
NM_001614.5(ACTG1):c.693A>G (p.Ala231=) rs534061526 0.00003
NM_001614.5(ACTG1):c.696C>T (p.Ser232=) rs202155328 0.00003
NM_001614.5(ACTG1):c.720C>T (p.Tyr240=) rs376038784 0.00003
NM_001614.5(ACTG1):c.802+20G>A rs782239781 0.00003
NM_001614.5(ACTG1):c.803-4C>T rs782608976 0.00003
NM_001614.5(ACTG1):c.909C>T (p.Thr303=) rs187127467 0.00003
NM_001614.5(ACTG1):c.921G>A (p.Pro307=) rs782215635 0.00003
NM_001614.5(ACTG1):c.985-20G>A rs376114200 0.00003
NM_005219.5(DIAPH1):c.1018C>A (p.Arg340Ser) rs754730261 0.00003
NM_005219.5(DIAPH1):c.1019G>A (p.Arg340His) rs751381728 0.00003
NM_005219.5(DIAPH1):c.1122T>C (p.Tyr374=) rs747665458 0.00003
NM_005219.5(DIAPH1):c.1164-10C>T rs777180488 0.00003
NM_005219.5(DIAPH1):c.117+9C>T rs528279050 0.00003
NM_005219.5(DIAPH1):c.1287G>C (p.Gln429His) rs748159908 0.00003
NM_005219.5(DIAPH1):c.1796C>T (p.Pro599Leu) rs1266407564 0.00003
NM_005219.5(DIAPH1):c.1853C>T (p.Pro618Leu) rs1383273883 0.00003
NM_005219.5(DIAPH1):c.194A>G (p.Asn65Ser) rs954518752 0.00003
NM_005219.5(DIAPH1):c.2141C>T (p.Pro714Leu) rs760797227 0.00003
NM_005219.5(DIAPH1):c.2261G>A (p.Gly754Glu) rs565706367 0.00003
NM_005219.5(DIAPH1):c.2328G>A (p.Glu776=) rs13175631 0.00003
NM_005219.5(DIAPH1):c.234T>G (p.Asp78Glu) rs1292590118 0.00003
NM_005219.5(DIAPH1):c.2354C>T (p.Ser785Phe) rs532205362 0.00003
NM_005219.5(DIAPH1):c.250T>C (p.Leu84=) rs147691941 0.00003
NM_005219.5(DIAPH1):c.2545T>A (p.Leu849Ile) rs745960805 0.00003
NM_005219.5(DIAPH1):c.27G>T (p.Gly9=) rs757885737 0.00003
NM_005219.5(DIAPH1):c.3322C>T (p.His1108Tyr) rs749063652 0.00003
NM_005219.5(DIAPH1):c.3439-5C>T rs768948411 0.00003
NM_005219.5(DIAPH1):c.402+8C>T rs372807596 0.00003
NM_005219.5(DIAPH1):c.560G>C (p.Gly187Ala) rs376465188 0.00003
NM_005219.5(DIAPH1):c.621-4A>G rs772123724 0.00003
NM_005219.5(DIAPH1):c.628G>A (p.Asp210Asn) rs749058990 0.00003
NM_005219.5(DIAPH1):c.69A>T (p.Pro23=) rs568307383 0.00003
NM_005219.5(DIAPH1):c.942C>T (p.Cys314=) rs761524821 0.00003
NM_005982.4(SIX1):c.191G>A (p.Arg64His) rs1051653507 0.00003
NM_001110219.3(GJB6):c.109G>A (p.Val37Met) rs761985641 0.00002
NM_001110219.3(GJB6):c.371A>G (p.Gln124Arg) rs760079142 0.00002
NM_001110219.3(GJB6):c.619G>A (p.Val207Met) rs146231737 0.00002
NM_001199107.2(TBC1D24):c.1015A>G (p.Asn339Asp) rs574768683 0.00002
NM_001199107.2(TBC1D24):c.1028A>C (p.Glu343Ala) rs188124777 0.00002
NM_001199107.2(TBC1D24):c.102A>G (p.Glu34=) rs1178639246 0.00002
NM_001199107.2(TBC1D24):c.1052G>A (p.Arg351Lys) rs375571181 0.00002
NM_001199107.2(TBC1D24):c.1071C>T (p.Val357=) rs760897479 0.00002
NM_001199107.2(TBC1D24):c.1078C>T (p.Arg360Cys) rs1057519629 0.00002
NM_001199107.2(TBC1D24):c.1281C>T (p.Thr427=) rs200089341 0.00002
NM_001199107.2(TBC1D24):c.1350C>T (p.Pro450=) rs375320196 0.00002
NM_001199107.2(TBC1D24):c.1393G>A (p.Ala465Thr) rs745535369 0.00002
NM_001199107.2(TBC1D24):c.1467C>T (p.Asn489=) rs779963634 0.00002
NM_001199107.2(TBC1D24):c.1475C>T (p.Ser492Phe) rs1249590916 0.00002
NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val) rs564477999 0.00002
NM_001199107.2(TBC1D24):c.1525+16C>T rs754724498 0.00002
NM_001199107.2(TBC1D24):c.1525G>A (p.Gly509Arg) rs749994791 0.00002
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) rs267607105 0.00002
NM_001199107.2(TBC1D24):c.1591G>A (p.Asp531Asn) rs757236821 0.00002
NM_001199107.2(TBC1D24):c.1675C>T (p.Gln559Ter) rs1253505916 0.00002
NM_001199107.2(TBC1D24):c.193C>T (p.Arg65Cys) rs750421791 0.00002
NM_001199107.2(TBC1D24):c.197C>T (p.Thr66Met) rs371245371 0.00002
NM_001199107.2(TBC1D24):c.198G>A (p.Thr66=) rs373088306 0.00002
NM_001199107.2(TBC1D24):c.213C>T (p.Ala71=) rs778212970 0.00002
NM_001199107.2(TBC1D24):c.226G>A (p.Asp76Asn) rs979223146 0.00002
NM_001199107.2(TBC1D24):c.231C>T (p.Ile77=) rs375578380 0.00002
NM_001199107.2(TBC1D24):c.273G>A (p.Pro91=) rs762804146 0.00002
NM_001199107.2(TBC1D24):c.297G>A (p.Thr99=) rs767766165 0.00002
NM_001199107.2(TBC1D24):c.333G>A (p.Glu111=) rs749237671 0.00002
NM_001199107.2(TBC1D24):c.381C>A (p.Asp127Glu) rs1376844321 0.00002
NM_001199107.2(TBC1D24):c.405G>A (p.Pro135=) rs778663250 0.00002
NM_001199107.2(TBC1D24):c.409G>A (p.Val137Met) rs200263150 0.00002
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059 0.00002
NM_001199107.2(TBC1D24):c.485A>G (p.Asn162Ser) rs772054145 0.00002
NM_001199107.2(TBC1D24):c.578C>T (p.Ala193Val) rs750266156 0.00002
NM_001199107.2(TBC1D24):c.622G>A (p.Val208Ile) rs1355375251 0.00002
NM_001199107.2(TBC1D24):c.727G>A (p.Val243Met) rs762660491 0.00002
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224 0.00002
NM_001199107.2(TBC1D24):c.855G>T (p.Leu285=) rs769201984 0.00002
NM_001199107.2(TBC1D24):c.870C>T (p.Phe290=) rs770453630 0.00002
NM_001199107.2(TBC1D24):c.87C>T (p.Cys29=) rs768933496 0.00002
NM_001199107.2(TBC1D24):c.965+11G>A rs568663296 0.00002
NM_001199107.2(TBC1D24):c.997T>G (p.Leu333Val) rs753105655 0.00002
NM_001614.5(ACTG1):c.1023C>T (p.Ile341=) rs140865670 0.00002
NM_001614.5(ACTG1):c.1110C>A (p.Val370=) rs727502879 0.00002
NM_001614.5(ACTG1):c.124-16G>A rs782370155 0.00002
NM_001614.5(ACTG1):c.363+20C>G rs782132566 0.00002
NM_001614.5(ACTG1):c.429C>T (p.Tyr143=) rs782719226 0.00002
NM_001614.5(ACTG1):c.51C>T (p.Cys17=) rs201570725 0.00002
NM_001614.5(ACTG1):c.861G>A (p.Val287=) rs558300445 0.00002
NM_001614.5(ACTG1):c.945G>A (p.Lys315=) rs727502881 0.00002
NM_005219.5(DIAPH1):c.1281-20C>G rs773242100 0.00002
NM_005219.5(DIAPH1):c.1458G>A (p.Lys486=) rs562629411 0.00002
NM_005219.5(DIAPH1):c.1462-13G>A rs752180364 0.00002
NM_005219.5(DIAPH1):c.1542A>G (p.Gln514=) rs1249282294 0.00002
NM_005219.5(DIAPH1):c.1635A>C (p.Thr545=) rs201643914 0.00002
NM_005219.5(DIAPH1):c.1648A>C (p.Lys550Gln) rs528268486 0.00002
NM_005219.5(DIAPH1):c.1948A>G (p.Thr650Ala) rs1158959492 0.00002
NM_005219.5(DIAPH1):c.1984G>T (p.Gly662Cys) rs753471630 0.00002
NM_005219.5(DIAPH1):c.2063C>T (p.Pro688Leu) rs775146972 0.00002
NM_005219.5(DIAPH1):c.2137A>G (p.Met713Val) rs764305772 0.00002
NM_005219.5(DIAPH1):c.239C>T (p.Thr80Ile) rs777368467 0.00002
NM_005219.5(DIAPH1):c.2547A>G (p.Leu849=) rs963579651 0.00002
NM_005219.5(DIAPH1):c.2764C>A (p.Gln922Lys) rs766891698 0.00002
NM_005219.5(DIAPH1):c.2889A>G (p.Ala963=) rs770304914 0.00002
NM_005219.5(DIAPH1):c.2903G>A (p.Arg968His) rs373654027 0.00002
NM_005219.5(DIAPH1):c.2994C>T (p.Gly998=) rs992133469 0.00002
NM_005219.5(DIAPH1):c.3097G>A (p.Asp1033Asn) rs1303934222 0.00002
NM_005219.5(DIAPH1):c.3117C>T (p.Asp1039=) rs778177136 0.00002
NM_005219.5(DIAPH1):c.3149-18_3149-17insG rs773806584 0.00002
NM_005219.5(DIAPH1):c.3149-19T>G rs1181356344 0.00002
NM_005219.5(DIAPH1):c.3195A>G (p.Gln1065=) rs753783398 0.00002
NM_005219.5(DIAPH1):c.3212G>A (p.Arg1071His) rs538492176 0.00002
NM_005219.5(DIAPH1):c.3219T>G (p.Val1073=) rs773708839 0.00002
NM_005219.5(DIAPH1):c.3273+8C>G rs772177335 0.00002
NM_005219.5(DIAPH1):c.3374A>G (p.Asp1125Gly) rs1490710264 0.00002
NM_005219.5(DIAPH1):c.3467G>A (p.Arg1156Gln) rs764296073 0.00002
NM_005219.5(DIAPH1):c.352A>G (p.Ile118Val) rs769174848 0.00002
NM_005219.5(DIAPH1):c.3638G>A (p.Arg1213Gln) rs978882548 0.00002
NM_005219.5(DIAPH1):c.3675C>T (p.Ala1225=) rs371385202 0.00002
NM_005219.5(DIAPH1):c.3701C>T (p.Ala1234Val) rs764739820 0.00002
NM_005219.5(DIAPH1):c.3705G>A (p.Ser1235=) rs776296177 0.00002
NM_005219.5(DIAPH1):c.65G>A (p.Ser22Asn) rs1474809251 0.00002
NM_005219.5(DIAPH1):c.767T>C (p.Met256Thr) rs532196989 0.00002
NM_005219.5(DIAPH1):c.783G>A (p.Lys261=) rs727502962 0.00002
NM_005219.5(DIAPH1):c.856A>G (p.Arg286Gly) rs1325994580 0.00002
NM_005219.5(DIAPH1):c.863A>G (p.Glu288Gly) rs547044466 0.00002
NM_005219.5(DIAPH1):c.933+12C>T rs772703740 0.00002
NM_005219.5(DIAPH1):c.933+6T>C rs948017991 0.00002
NM_005982.4(SIX1):c.465G>A (p.Arg155=) rs748903952 0.00002
NM_001110219.3(GJB6):c.300C>T (p.His100=) rs757592980 0.00001
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) rs104894415 0.00001
NM_001110219.3(GJB6):c.458T>C (p.Val153Ala) rs779119807 0.00001
NM_001110219.3(GJB6):c.458T>G (p.Val153Gly) rs779119807 0.00001
NM_001110219.3(GJB6):c.61G>A (p.Gly21Arg) rs751440971 0.00001
NM_001110219.3(GJB6):c.753T>G (p.Ser251Arg) rs752343828 0.00001
NM_001110219.3(GJB6):c.95G>A (p.Arg32Gln) rs766604251 0.00001
NM_001199107.2(TBC1D24):c.1003G>A (p.Val335Ile) rs889668249 0.00001
NM_001199107.2(TBC1D24):c.1020C>T (p.Phe340=) rs200711801 0.00001
NM_001199107.2(TBC1D24):c.1033G>A (p.Val345Ile) rs777515811 0.00001
NM_001199107.2(TBC1D24):c.1075G>C (p.Glu359Gln) rs762442022 0.00001
NM_001199107.2(TBC1D24):c.1137G>A (p.Leu379=) rs1243475474 0.00001
NM_001199107.2(TBC1D24):c.1142+6A>T rs778930581 0.00001
NM_001199107.2(TBC1D24):c.1142+7C>A rs1364280797 0.00001
NM_001199107.2(TBC1D24):c.1166A>G (p.His389Arg) rs528162903 0.00001
NM_001199107.2(TBC1D24):c.117G>A (p.Ala39=) rs537494711 0.00001
NM_001199107.2(TBC1D24):c.118C>T (p.Arg40Cys) rs398122966 0.00001
NM_001199107.2(TBC1D24):c.1197G>A (p.Thr399=) rs568288551 0.00001
NM_001199107.2(TBC1D24):c.119G>T (p.Arg40Leu) rs760474458 0.00001
NM_001199107.2(TBC1D24):c.1206+13C>T rs376162122 0.00001
NM_001199107.2(TBC1D24):c.1206+6C>T rs974544530 0.00001
NM_001199107.2(TBC1D24):c.1206+7A>G rs2065771868 0.00001
NM_001199107.2(TBC1D24):c.1207-11C>T rs778247648 0.00001
NM_001199107.2(TBC1D24):c.1207-18C>T rs372876116 0.00001
NM_001199107.2(TBC1D24):c.1209G>A (p.Val403=) rs1165918189 0.00001
NM_001199107.2(TBC1D24):c.1253T>C (p.Phe418Ser) rs776176742 0.00001
NM_001199107.2(TBC1D24):c.1260C>A (p.Gly420=) rs761432102 0.00001
NM_001199107.2(TBC1D24):c.1288T>C (p.Cys430Arg) rs863224932 0.00001
NM_001199107.2(TBC1D24):c.1302+17G>A rs1173044946 0.00001
NM_001199107.2(TBC1D24):c.1302+9G>A rs1197608274 0.00001
NM_001199107.2(TBC1D24):c.1303-14C>T rs1211054848 0.00001
NM_001199107.2(TBC1D24):c.1321C>T (p.Arg441Cys) rs775497984 0.00001
NM_001199107.2(TBC1D24):c.1353G>A (p.Glu451=) rs1231827471 0.00001
NM_001199107.2(TBC1D24):c.1381G>A (p.Ala461Thr) rs201911646 0.00001
NM_001199107.2(TBC1D24):c.1383C>T (p.Ala461=) rs552951046 0.00001
NM_001199107.2(TBC1D24):c.1399C>A (p.Leu467Ile) rs951307443 0.00001
NM_001199107.2(TBC1D24):c.13G>C (p.Gly5Arg) rs772570554 0.00001
NM_001199107.2(TBC1D24):c.1433G>A (p.Arg478His) rs1596972871 0.00001
NM_001199107.2(TBC1D24):c.1437C>T (p.Leu479=) rs1406537159 0.00001
NM_001199107.2(TBC1D24):c.143A>T (p.His48Leu) rs761844771 0.00001
NM_001199107.2(TBC1D24):c.1446C>T (p.Phe482=) rs2065782529 0.00001
NM_001199107.2(TBC1D24):c.1457G>A (p.Arg486His) rs796053405 0.00001
NM_001199107.2(TBC1D24):c.145G>A (p.Ala49Thr) rs758665573 0.00001
NM_001199107.2(TBC1D24):c.1497G>A (p.Met499Ile) rs1403522004 0.00001
NM_001199107.2(TBC1D24):c.1513T>G (p.Cys505Gly) rs761300077 0.00001
NM_001199107.2(TBC1D24):c.151C>T (p.Arg51Trp) rs886051844 0.00001
NM_001199107.2(TBC1D24):c.1521C>T (p.Ile507=) rs1269959991 0.00001
NM_001199107.2(TBC1D24):c.1524C>T (p.Val508=) rs1333624924 0.00001
NM_001199107.2(TBC1D24):c.1525+13A>C rs751260694 0.00001
NM_001199107.2(TBC1D24):c.1525+7G>A rs1041091510 0.00001
NM_001199107.2(TBC1D24):c.1526-3C>T rs752385354 0.00001
NM_001199107.2(TBC1D24):c.152G>A (p.Arg51Gln) rs780286465 0.00001
NM_001199107.2(TBC1D24):c.1530A>G (p.Gly510=) rs749232409 0.00001
NM_001199107.2(TBC1D24):c.1536C>T (p.Gly512=) rs757328220 0.00001
NM_001199107.2(TBC1D24):c.1537G>A (p.Gly513Ser) rs779026472 0.00001
NM_001199107.2(TBC1D24):c.1545G>A (p.Ala515=) rs747350771 0.00001
NM_001199107.2(TBC1D24):c.1547_1562del (p.Leu516fs) rs2065786997 0.00001
NM_001199107.2(TBC1D24):c.1554C>T (p.Ile518=) rs369958726 0.00001
NM_001199107.2(TBC1D24):c.1571G>A (p.Arg524Gln) rs758997013 0.00001
NM_001199107.2(TBC1D24):c.1581A>G (p.Thr527=) rs1217553094 0.00001
NM_001199107.2(TBC1D24):c.1590C>T (p.Cys530=) rs1060502501 0.00001
NM_001199107.2(TBC1D24):c.1676A>G (p.Gln559Arg) rs1427285339 0.00001
NM_001199107.2(TBC1D24):c.203C>G (p.Thr68Arg) rs866586869 0.00001
NM_001199107.2(TBC1D24):c.211G>A (p.Ala71Thr) rs756581138 0.00001
NM_001199107.2(TBC1D24):c.232G>A (p.Val78Met) rs776539630 0.00001
NM_001199107.2(TBC1D24):c.272C>T (p.Pro91Leu) rs543224888 0.00001
NM_001199107.2(TBC1D24):c.27C>T (p.Phe9=) rs759193465 0.00001
NM_001199107.2(TBC1D24):c.280G>A (p.Glu94Lys) rs1343535255 0.00001
NM_001199107.2(TBC1D24):c.285C>T (p.Phe95=) rs774354974 0.00001
NM_001199107.2(TBC1D24):c.28G>A (p.Val10Met) rs767293945 0.00001
NM_001199107.2(TBC1D24):c.312C>T (p.Tyr104=) rs754301066 0.00001
NM_001199107.2(TBC1D24):c.326G>A (p.Arg109His) rs746543920 0.00001
NM_001199107.2(TBC1D24):c.378C>T (p.Pro126=) rs765624033 0.00001
NM_001199107.2(TBC1D24):c.384C>G (p.Ile128Met) rs754479878 0.00001
NM_001199107.2(TBC1D24):c.397G>A (p.Ala133Thr) rs770787878 0.00001
NM_001199107.2(TBC1D24):c.408C>T (p.Ala136=) rs3810796 0.00001
NM_001199107.2(TBC1D24):c.413T>C (p.Val138Ala) rs1162185369 0.00001
NM_001199107.2(TBC1D24):c.414G>A (p.Val138=) rs1015174831 0.00001
NM_001199107.2(TBC1D24):c.415G>A (p.Ala139Thr) rs565087939 0.00001
NM_001199107.2(TBC1D24):c.420G>A (p.Leu140=) rs1400165650 0.00001
NM_001199107.2(TBC1D24):c.470G>A (p.Arg157His) rs1301489148 0.00001
NM_001199107.2(TBC1D24):c.478G>T (p.Ala160Ser) rs1277641753 0.00001
NM_001199107.2(TBC1D24):c.495C>G (p.Gly165=) rs776661155 0.00001
NM_001199107.2(TBC1D24):c.49G>A (p.Ala17Thr) rs757359393 0.00001
NM_001199107.2(TBC1D24):c.503T>C (p.Leu168Pro) rs770847294 0.00001
NM_001199107.2(TBC1D24):c.530A>G (p.Glu177Gly) rs767035291 0.00001
NM_001199107.2(TBC1D24):c.533C>T (p.Ser178Leu) rs483352866 0.00001
NM_001199107.2(TBC1D24):c.545C>T (p.Thr182Met) rs763670146 0.00001
NM_001199107.2(TBC1D24):c.629C>T (p.Ala210Val) rs771442254 0.00001
NM_001199107.2(TBC1D24):c.630G>A (p.Ala210=) rs776459372 0.00001
NM_001199107.2(TBC1D24):c.639G>C (p.Gln213His) rs1223160118 0.00001
NM_001199107.2(TBC1D24):c.648G>C (p.Leu216=) rs571126287 0.00001
NM_001199107.2(TBC1D24):c.64C>T (p.Leu22=) rs746087403 0.00001
NM_001199107.2(TBC1D24):c.651T>C (p.Phe217=) rs750100459 0.00001
NM_001199107.2(TBC1D24):c.676G>A (p.Ala226Thr) rs796053401 0.00001
NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp) rs748302886 0.00001
NM_001199107.2(TBC1D24):c.680G>T (p.Arg227Leu) rs756181906 0.00001
NM_001199107.2(TBC1D24):c.690C>T (p.Asp230=) rs749531792 0.00001
NM_001199107.2(TBC1D24):c.691G>A (p.Val231Ile) rs370614433 0.00001
NM_001199107.2(TBC1D24):c.706G>A (p.Gly236Ser) rs1183009408 0.00001
NM_001199107.2(TBC1D24):c.725G>A (p.Arg242His) rs199744635 0.00001
NM_001199107.2(TBC1D24):c.726C>T (p.Arg242=) rs772786813 0.00001
NM_001199107.2(TBC1D24):c.732G>A (p.Ala244=) rs554758752 0.00001
NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro) rs370477379 0.00001
NM_001199107.2(TBC1D24):c.800A>G (p.Gln267Arg) rs1004946712 0.00001
NM_001199107.2(TBC1D24):c.805A>G (p.Ile269Val) rs1417808543 0.00001
NM_001199107.2(TBC1D24):c.817G>A (p.Val273Ile) rs752610561 0.00001
NM_001199107.2(TBC1D24):c.820A>G (p.Arg274Gly) rs760591932 0.00001
NM_001199107.2(TBC1D24):c.829G>A (p.Ala277Thr) rs754019727 0.00001
NM_001199107.2(TBC1D24):c.830C>T (p.Ala277Val) rs909267678 0.00001
NM_001199107.2(TBC1D24):c.856C>G (p.Leu286Val) rs775099094 0.00001
NM_001199107.2(TBC1D24):c.866C>T (p.Ala289Val) rs748759187 0.00001
NM_001199107.2(TBC1D24):c.920A>G (p.Asn307Ser) rs761934676 0.00001
NM_001199107.2(TBC1D24):c.94C>T (p.Leu32=) rs1246835125 0.00001
NM_001199107.2(TBC1D24):c.965+13C>T rs531521557 0.00001
NM_001199107.2(TBC1D24):c.965+2T>C rs755370981 0.00001
NM_001199107.2(TBC1D24):c.965+7C>T rs1244113744 0.00001
NM_001199107.2(TBC1D24):c.965+8G>A rs372247100 0.00001
NM_001199107.2(TBC1D24):c.969G>A (p.Val323=) rs1054785696 0.00001
NM_001199107.2(TBC1D24):c.972A>C (p.Ser324=) rs886043654 0.00001
NM_001199107.2(TBC1D24):c.983+15G>A rs1172969040 0.00001
NM_001199107.2(TBC1D24):c.983+7C>T rs778459711 0.00001
NM_001199107.2(TBC1D24):c.983G>T (p.Arg328Met) rs796053404 0.00001
NM_001614.5(ACTG1):c.1008G>A (p.Lys336=) rs1555666390 0.00001
NM_001614.5(ACTG1):c.1101C>T (p.Pro367=) rs782349660 0.00001
NM_001614.5(ACTG1):c.123+8G>A rs536476533 0.00001
NM_001614.5(ACTG1):c.124-3C>T rs143798951 0.00001
NM_001614.5(ACTG1):c.138C>T (p.Gly46=) rs374907377 0.00001
NM_001614.5(ACTG1):c.150G>A (p.Lys50=) rs1482374138 0.00001
NM_001614.5(ACTG1):c.208C>T (p.Pro70Ser) rs1568062708 0.00001
NM_001614.5(ACTG1):c.285C>T (p.Arg95=) rs782236244 0.00001
NM_001614.5(ACTG1):c.294G>A (p.Pro98=) rs1157976912 0.00001
NM_001614.5(ACTG1):c.310C>T (p.Leu104=) rs782549602 0.00001
NM_001614.5(ACTG1):c.364-13T>C rs1555666841 0.00001
NM_001614.5(ACTG1):c.378C>T (p.Thr126=) rs11549201 0.00001
NM_001614.5(ACTG1):c.390G>A (p.Pro130=) rs561518636 0.00001
NM_001614.5(ACTG1):c.417G>C (p.Val139=) rs1367861495 0.00001
NM_001614.5(ACTG1):c.447T>C (p.Thr149=) rs1555666796 0.00001
NM_001614.5(ACTG1):c.519C>T (p.His173=) rs781859294 0.00001
NM_001614.5(ACTG1):c.642G>A (p.Glu214=) rs782187026 0.00001
NM_001614.5(ACTG1):c.802+10G>A rs1555666580 0.00001
NM_001614.5(ACTG1):c.803-5C>T rs551818809 0.00001
NM_001614.5(ACTG1):c.828G>A (p.Glu276=) rs727504806 0.00001
NM_001614.5(ACTG1):c.888C>T (p.Asn296=) rs782140372 0.00001
NM_001614.5(ACTG1):c.936G>A (p.Arg312=) rs1555666472 0.00001
NM_005219.5(DIAPH1):c.1000A>G (p.Ile334Val) rs1374331735 0.00001
NM_005219.5(DIAPH1):c.1015A>G (p.Met339Val) rs374115798 0.00001
NM_005219.5(DIAPH1):c.1029A>G (p.Leu343=) rs750394417 0.00001
NM_005219.5(DIAPH1):c.1044+9T>C rs1363077545 0.00001
NM_005219.5(DIAPH1):c.1045-16C>T rs375424442 0.00001
NM_005219.5(DIAPH1):c.1073T>C (p.Met358Thr) rs1184130282 0.00001
NM_005219.5(DIAPH1):c.1105G>A (p.Gly369Arg) rs756750537 0.00001
NM_005219.5(DIAPH1):c.1107G>A (p.Gly369=) rs753420499 0.00001
NM_005219.5(DIAPH1):c.1116T>C (p.Asp372=) rs763746608 0.00001
NM_005219.5(DIAPH1):c.1157A>G (p.Glu386Gly) rs1236323559 0.00001
NM_005219.5(DIAPH1):c.117+10C>T rs888332877 0.00001
NM_005219.5(DIAPH1):c.118-9G>C rs1346309649 0.00001
NM_005219.5(DIAPH1):c.1201G>C (p.Val401Leu) rs367592859 0.00001
NM_005219.5(DIAPH1):c.1239C>T (p.Ile413=) rs774466966 0.00001
NM_005219.5(DIAPH1):c.1248C>G (p.His416Gln) rs375904152 0.00001
NM_005219.5(DIAPH1):c.1257G>T (p.Leu419Phe) rs371587729 0.00001
NM_005219.5(DIAPH1):c.1262G>A (p.Arg421Gln) rs754559074 0.00001
NM_005219.5(DIAPH1):c.1271A>G (p.Tyr424Cys) rs895429714 0.00001
NM_005219.5(DIAPH1):c.127C>T (p.Arg43Trp) rs1305661080 0.00001
NM_005219.5(DIAPH1):c.128G>A (p.Arg43Gln) rs727502964 0.00001
NM_005219.5(DIAPH1):c.1338C>T (p.Asn446=) rs746584977 0.00001
NM_005219.5(DIAPH1):c.1339G>A (p.Gly447Arg) rs779687295 0.00001
NM_005219.5(DIAPH1):c.1350T>C (p.Pro450=) rs1208045567 0.00001
NM_005219.5(DIAPH1):c.1363C>T (p.Arg455Trp) rs756545968 0.00001
NM_005219.5(DIAPH1):c.1436C>G (p.Ala479Gly) rs1342839445 0.00001
NM_005219.5(DIAPH1):c.144+8C>T rs768557998 0.00001
NM_005219.5(DIAPH1):c.145-1G>A rs763349669 0.00001
NM_005219.5(DIAPH1):c.1462-14C>T rs558029774 0.00001
NM_005219.5(DIAPH1):c.1462-4C>G rs758566221 0.00001
NM_005219.5(DIAPH1):c.1482C>A (p.Ala494=) rs765531203 0.00001
NM_005219.5(DIAPH1):c.1543G>C (p.Asp515His) rs759051179 0.00001
NM_005219.5(DIAPH1):c.1549C>T (p.Gln517Ter) rs2099895754 0.00001
NM_005219.5(DIAPH1):c.1594A>G (p.Thr532Ala) rs747462106 0.00001
NM_005219.5(DIAPH1):c.1601A>G (p.Lys534Arg) rs758517099 0.00001
NM_005219.5(DIAPH1):c.1641+7C>A rs1284880934 0.00001
NM_005219.5(DIAPH1):c.1653G>C (p.Leu551=) rs746419756 0.00001
NM_005219.5(DIAPH1):c.1674C>T (p.Ala558=) rs927252375 0.00001
NM_005219.5(DIAPH1):c.1683A>G (p.Glu561=) rs980196269 0.00001
NM_005219.5(DIAPH1):c.1704A>G (p.Ala568=) rs1192346574 0.00001
NM_005219.5(DIAPH1):c.1713T>C (p.Thr571=) rs369024454 0.00001
NM_005219.5(DIAPH1):c.1732A>G (p.Ser578Gly) rs762375683 0.00001
NM_005219.5(DIAPH1):c.1741C>T (p.Pro581Ser) rs772634604 0.00001
NM_005219.5(DIAPH1):c.1744G>C (p.Val582Leu) rs746371106 0.00001
NM_005219.5(DIAPH1):c.1795C>T (p.Pro599Ser) rs372170639 0.00001
NM_005219.5(DIAPH1):c.180G>A (p.Glu60=) rs751683632 0.00001
NM_005219.5(DIAPH1):c.1834C>G (p.Pro612Ala) rs761554818 0.00001
NM_005219.5(DIAPH1):c.1891C>G (p.Pro631Ala) rs769926497 0.00001
NM_005219.5(DIAPH1):c.1979G>T (p.Gly660Val) rs756837198 0.00001
NM_005219.5(DIAPH1):c.2009C>T (p.Pro670Leu) rs751847293 0.00001
NM_005219.5(DIAPH1):c.2025C>T (p.Ile675=) rs557522528 0.00001
NM_005219.5(DIAPH1):c.2035C>T (p.Pro679Ser) rs1455766498 0.00001
NM_005219.5(DIAPH1):c.2100T>C (p.Ile700=) rs755690554 0.00001
NM_005219.5(DIAPH1):c.2105C>T (p.Pro702Leu) rs1229036082 0.00001
NM_005219.5(DIAPH1):c.2111C>T (p.Pro704Leu) rs1245809874 0.00001
NM_005219.5(DIAPH1):c.213T>C (p.Ser71=) rs2099897669 0.00001
NM_005219.5(DIAPH1):c.2203G>T (p.Gly735Cys) rs757761745 0.00001
NM_005219.5(DIAPH1):c.2229C>T (p.Pro743=) rs1361779351 0.00001
NM_005219.5(DIAPH1):c.224A>G (p.Tyr75Cys) rs745759508 0.00001
NM_005219.5(DIAPH1):c.2292A>G (p.Pro764=) rs773214407 0.00001
NM_005219.5(DIAPH1):c.2296G>A (p.Gly766Arg) rs769148092 0.00001
NM_005219.5(DIAPH1):c.230A>G (p.Asp77Gly) rs748806020 0.00001
NM_005219.5(DIAPH1):c.2338C>T (p.Arg780Trp) rs754235853 0.00001
NM_005219.5(DIAPH1):c.2359C>T (p.Leu787Phe) rs2099895261 0.00001
NM_005219.5(DIAPH1):c.2424C>A (p.Asn808Lys) rs766731479 0.00001
NM_005219.5(DIAPH1):c.246G>A (p.Gln82=) rs199982016 0.00001
NM_005219.5(DIAPH1):c.2473+9C>T rs370441015 0.00001
NM_005219.5(DIAPH1):c.2474-11T>C rs1356596414 0.00001
NM_005219.5(DIAPH1):c.2525A>C (p.Gln842Pro) rs200220260 0.00001
NM_005219.5(DIAPH1):c.2563A>C (p.Lys855Gln) rs991588859 0.00001
NM_005219.5(DIAPH1):c.2568A>G (p.Thr856=) rs771024187 0.00001
NM_005219.5(DIAPH1):c.2589T>C (p.Phe863=) rs1444327928 0.00001
NM_005219.5(DIAPH1):c.2622T>A (p.Ile874=) rs184967634 0.00001
NM_005219.5(DIAPH1):c.2672T>C (p.Ile891Thr) rs727502961 0.00001
NM_005219.5(DIAPH1):c.2676+16G>A rs369662192 0.00001
NM_005219.5(DIAPH1):c.2758T>C (p.Ser920Pro) rs746418816 0.00001
NM_005219.5(DIAPH1):c.2772C>T (p.Gly924=) rs779376542 0.00001
NM_005219.5(DIAPH1):c.2773G>A (p.Val925Met) rs773243948 0.00001
NM_005219.5(DIAPH1):c.2778+20G>A rs761883411 0.00001
NM_005219.5(DIAPH1):c.2801G>A (p.Arg934Gln) rs758893826 0.00001
NM_005219.5(DIAPH1):c.2806C>T (p.Arg936Cys) rs750941858 0.00001
NM_005219.5(DIAPH1):c.2813A>G (p.Asn938Ser) rs1040008297 0.00001
NM_005219.5(DIAPH1):c.2816C>T (p.Ala939Val) rs2099887790 0.00001
NM_005219.5(DIAPH1):c.2841C>T (p.Ser947=) rs760850451 0.00001
NM_005219.5(DIAPH1):c.2850G>A (p.Val950=) rs772045628 0.00001
NM_005219.5(DIAPH1):c.2944C>T (p.Leu982Phe) rs1431409262 0.00001
NM_005219.5(DIAPH1):c.2982T>C (p.Ala994=) rs750890653 0.00001
NM_005219.5(DIAPH1):c.300+7T>C rs760784874 0.00001
NM_005219.5(DIAPH1):c.3018+16A>C rs1428054946 0.00001
NM_005219.5(DIAPH1):c.3019-16C>A rs1040527951 0.00001
NM_005219.5(DIAPH1):c.3022C>T (p.Arg1008Ter) rs1461242879 0.00001
NM_005219.5(DIAPH1):c.3023G>A (p.Arg1008Gln) rs1006618137 0.00001
NM_005219.5(DIAPH1):c.3027C>T (p.Asp1009=) rs555292453 0.00001
NM_005219.5(DIAPH1):c.3038C>T (p.Thr1013Ile) rs752924382 0.00001
NM_005219.5(DIAPH1):c.3099T>C (p.Asp1033=) rs727504838 0.00001
NM_005219.5(DIAPH1):c.3128A>G (p.His1043Arg) rs756215904 0.00001
NM_005219.5(DIAPH1):c.3149-13T>G rs946853794 0.00001
NM_005219.5(DIAPH1):c.3149-14T>G rs1474299564 0.00001
NM_005219.5(DIAPH1):c.3149-14_3149-13insG rs774726601 0.00001
NM_005219.5(DIAPH1):c.3149-20_3149-19insG rs761131175 0.00001
NM_005219.5(DIAPH1):c.3156T>G (p.Ala1052=) rs1191755557 0.00001
NM_005219.5(DIAPH1):c.3188A>G (p.Lys1063Arg) rs757169374 0.00001
NM_005219.5(DIAPH1):c.3198T>C (p.Ile1066=) rs906341811 0.00001
NM_005219.5(DIAPH1):c.3209A>C (p.Glu1070Ala) rs760138089 0.00001
NM_005219.5(DIAPH1):c.3274-5T>A rs748520819 0.00001
NM_005219.5(DIAPH1):c.3276C>T (p.Ser1092=) rs369559394 0.00001
NM_005219.5(DIAPH1):c.3302A>G (p.Tyr1101Cys) rs772204178 0.00001
NM_005219.5(DIAPH1):c.3340C>G (p.Leu1114Val) rs1283993189 0.00001
NM_005219.5(DIAPH1):c.3358G>A (p.Glu1120Lys) rs756003432 0.00001
NM_005219.5(DIAPH1):c.3360G>A (p.Glu1120=) rs727504670 0.00001
NM_005219.5(DIAPH1):c.3419A>G (p.Asn1140Ser) rs1232760149 0.00001
NM_005219.5(DIAPH1):c.3425G>A (p.Arg1142Gln) rs200419320 0.00001
NM_005219.5(DIAPH1):c.344A>G (p.Glu115Gly) rs762848470 0.00001
NM_005219.5(DIAPH1):c.3465G>A (p.Arg1155=) rs377665243 0.00001
NM_005219.5(DIAPH1):c.3519G>A (p.Glu1173=) rs1241177697 0.00001
NM_005219.5(DIAPH1):c.3550G>C (p.Glu1184Gln) rs1355259448 0.00001
NM_005219.5(DIAPH1):c.3552G>A (p.Glu1184=) rs1455848656 0.00001
NM_005219.5(DIAPH1):c.3641G>A (p.Arg1214Gln) rs373679838 0.00001
NM_005219.5(DIAPH1):c.3655C>T (p.Arg1219Cys) rs373270436 0.00001
NM_005219.5(DIAPH1):c.3661+8A>G rs757441986 0.00001
NM_005219.5(DIAPH1):c.3662-7C>T rs778069558 0.00001
NM_005219.5(DIAPH1):c.3665A>G (p.Asn1222Ser) rs1423948383 0.00001
NM_005219.5(DIAPH1):c.3677G>A (p.Gly1226Glu) rs2099885784 0.00001
NM_005219.5(DIAPH1):c.3758A>G (p.Asn1253Ser) rs748341361 0.00001
NM_005219.5(DIAPH1):c.3767C>T (p.Thr1256Ile) rs546064158 0.00001
NM_005219.5(DIAPH1):c.3803T>C (p.Val1268Ala) rs1163619347 0.00001
NM_005219.5(DIAPH1):c.3808C>T (p.Arg1270Cys) rs758272814 0.00001
NM_005219.5(DIAPH1):c.402+16G>A rs367605861 0.00001
NM_005219.5(DIAPH1):c.512C>G (p.Ser171Cys) rs1251709997 0.00001
NM_005219.5(DIAPH1):c.545C>A (p.Thr182Lys) rs746125273 0.00001
NM_005219.5(DIAPH1):c.582T>C (p.Ile194=) rs1156521592 0.00001
NM_005219.5(DIAPH1):c.620+14A>G rs571997922 0.00001
NM_005219.5(DIAPH1):c.620+8C>G rs759235916 0.00001
NM_005219.5(DIAPH1):c.621-8A>G rs1393894659 0.00001
NM_005219.5(DIAPH1):c.629A>G (p.Asp210Gly) rs1424725542 0.00001
NM_005219.5(DIAPH1):c.630T>C (p.Asp210=) rs199683670 0.00001
NM_005219.5(DIAPH1):c.635G>A (p.Arg212Gln) rs727504973 0.00001
NM_005219.5(DIAPH1):c.684+18C>G rs1012134884 0.00001
NM_005219.5(DIAPH1):c.684+6A>G rs1038136298 0.00001
NM_005219.5(DIAPH1):c.685-10G>T rs756403159 0.00001
NM_005219.5(DIAPH1):c.70G>C (p.Asp24His) rs1276900007 0.00001
NM_005219.5(DIAPH1):c.724C>G (p.Leu242Val) rs766359994 0.00001
NM_005219.5(DIAPH1):c.727C>T (p.Leu243=) rs1000750578 0.00001
NM_005219.5(DIAPH1):c.738A>G (p.Arg246=) rs552477223 0.00001
NM_005219.5(DIAPH1):c.75G>A (p.Glu25=) rs760026257 0.00001
NM_005219.5(DIAPH1):c.789T>C (p.Leu263=) rs886060034 0.00001
NM_005219.5(DIAPH1):c.810G>A (p.Pro270=) rs745385668 0.00001
NM_005219.5(DIAPH1):c.814C>G (p.Pro272Ala) rs778493344 0.00001
NM_005219.5(DIAPH1):c.840G>A (p.Leu280=) rs1344655686 0.00001
NM_005219.5(DIAPH1):c.882T>A (p.Arg294=) rs757469488 0.00001
NM_005219.5(DIAPH1):c.88G>A (p.Gly30Ser) rs1034109754 0.00001
NM_005219.5(DIAPH1):c.90C>G (p.Gly30=) rs1355319732 0.00001
NM_005219.5(DIAPH1):c.930G>A (p.Leu310=) rs767345240 0.00001
NM_005219.5(DIAPH1):c.933+14C>G rs769511564 0.00001
NM_005219.5(DIAPH1):c.933+14C>T rs769511564 0.00001
NM_005219.5(DIAPH1):c.99C>T (p.Gly33=) rs773440011 0.00001
NM_005982.4(SIX1):c.414C>T (p.Val138=) rs572940248 0.00001
NM_005982.4(SIX1):c.560+7G>C rs767884287 0.00001
NM_005982.4(SIX1):c.854A>G (p.Ter285=) rs1894938537 0.00001
NC_000005.10:g.(?_141516831)_(141618934_?)del
NC_000005.9:g.(?_140896398)_(140998501_?)dup
NC_000005.9:g.(?_140896418)_(140998481_?)dup
NC_000005.9:g.(?_140953039)_(140954733_?)dup
NC_000005.9:g.(?_140967771)_(140967837_?)del
NC_000005.9:g.(?_140998345)_(140998481_?)del
NC_000013.10:g.(?_20716100)_(21398980_?)dup
NC_000013.10:g.(?_20763040)_(20797619_?)dup
NC_000013.10:g.(?_20796834)_(21099933_?)del
NC_000013.10:g.(?_20797176)_21105944del
NC_000014.8:g.(?_60976117)_(61191013_?)dup
NC_000014.8:g.(?_60976117)_(61447691_?)del
NC_000016.10:g.(?_2496129)_(2500978_?)del
NC_000016.9:g.(?_1822222)_(2550959_?)dup
NC_000016.9:g.(?_2098597)_(2550979_?)dup
NC_000016.9:g.(?_2546130)_(2550979_?)dup
NC_000016.9:g.(?_2546150)_(2550959_?)del
NC_000016.9:g.(?_2546150)_(2550959_?)dup
NC_000016.9:g.(?_2549338)_(2550959_?)dup
NC_000016.9:g.(?_2550259)_(3154076_?)del
NC_000017.10:g.(?_79477716)_(79479380_?)dup
NM_001110219.3(GJB6):c.111G>A (p.Val37=) rs543659673
NM_001110219.3(GJB6):c.129G>A (p.Val43=)
NM_001110219.3(GJB6):c.138C>T (p.Asp46=)
NM_001110219.3(GJB6):c.153C>T (p.Phe51=)
NM_001110219.3(GJB6):c.154G>T (p.Val52Phe)
NM_001110219.3(GJB6):c.168G>A (p.Leu56=)
NM_001110219.3(GJB6):c.16C>T (p.Leu6=)
NM_001110219.3(GJB6):c.176G>T (p.Gly59Val)
NM_001110219.3(GJB6):c.186T>C (p.Asn62=)
NM_001110219.3(GJB6):c.223C>T (p.Arg75Trp) rs2137333664
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val) rs28937872
NM_001110219.3(GJB6):c.27C>T (p.Phe9=)
NM_001110219.3(GJB6):c.301G>C (p.Glu101Gln) rs571454176
NM_001110219.3(GJB6):c.306C>G (p.Thr102=)
NM_001110219.3(GJB6):c.310C>T (p.Arg104Cys)
NM_001110219.3(GJB6):c.315G>A (p.Lys105=)
NM_001110219.3(GJB6):c.320G>A (p.Arg107Lys)
NM_001110219.3(GJB6):c.326G>A (p.Gly109Glu) rs747722057
NM_001110219.3(GJB6):c.338A>G (p.Asn113Ser)
NM_001110219.3(GJB6):c.352A>G (p.Ile118Val) rs1869317427
NM_001110219.3(GJB6):c.357G>A (p.Glu119=)
NM_001110219.3(GJB6):c.380G>A (p.Arg127Gln)
NM_001110219.3(GJB6):c.427C>T (p.Arg143Ter)
NM_001110219.3(GJB6):c.428G>A (p.Arg143Gln) rs201783640
NM_001110219.3(GJB6):c.460T>A (p.Phe154Ile)
NM_001110219.3(GJB6):c.511A>T (p.Ile171Phe)
NM_001110219.3(GJB6):c.513T>A (p.Ile171=)
NM_001110219.3(GJB6):c.568G>A (p.Val190Met)
NM_001110219.3(GJB6):c.568G>T (p.Val190Leu)
NM_001110219.3(GJB6):c.569T>G (p.Val190Gly)
NM_001110219.3(GJB6):c.571T>A (p.Phe191Ile)
NM_001110219.3(GJB6):c.590C>A (p.Ser197Tyr)
NM_001110219.3(GJB6):c.593C>A (p.Ala198Glu) rs200881320
NM_001110219.3(GJB6):c.602T>C (p.Ile201Thr)
NM_001110219.3(GJB6):c.607A>C (p.Met203Leu)
NM_001110219.3(GJB6):c.617A>C (p.Asn206Thr)
NM_001110219.3(GJB6):c.63del (p.Lys22fs) rs770612890
NM_001110219.3(GJB6):c.689dup (p.Asn230fs) rs398124237
NM_001110219.3(GJB6):c.695C>A (p.Pro232His) rs752253778
NM_001110219.3(GJB6):c.711G>A (p.Lys237=)
NM_001110219.3(GJB6):c.723G>A (p.Gln241=) rs556168075
NM_001110219.3(GJB6):c.94C>T (p.Arg32Ter)
NM_001199107.2(TBC1D24):c.1002C>G (p.Ala334=) rs184389316
NM_001199107.2(TBC1D24):c.1008T>C (p.His336=) rs961839071
NM_001199107.2(TBC1D24):c.1016A>C (p.Asn339Thr)
NM_001199107.2(TBC1D24):c.1025C>G (p.Ser342Trp) rs1159971280
NM_001199107.2(TBC1D24):c.1026G>C (p.Ser342=) rs370244846
NM_001199107.2(TBC1D24):c.1030A>G (p.Ile344Val) rs2141874280
NM_001199107.2(TBC1D24):c.1032C>G (p.Ile344Met) rs769656369
NM_001199107.2(TBC1D24):c.1074C>G (p.Pro358=)
NM_001199107.2(TBC1D24):c.1075G>A (p.Glu359Lys)
NM_001199107.2(TBC1D24):c.1078del (p.Arg360fs)
NM_001199107.2(TBC1D24):c.1079G>T (p.Arg360Leu) rs765965968
NM_001199107.2(TBC1D24):c.1086C>T (p.Ala362=)
NM_001199107.2(TBC1D24):c.1095G>A (p.Gln365=) rs2141874394
NM_001199107.2(TBC1D24):c.1097C>T (p.Pro366Leu) rs2141874400
NM_001199107.2(TBC1D24):c.1100T>A (p.Leu367His) rs2065761961
NM_001199107.2(TBC1D24):c.1102C>G (p.Leu368Val)
NM_001199107.2(TBC1D24):c.1104G>T (p.Leu368=)
NM_001199107.2(TBC1D24):c.1110C>T (p.Phe370=) rs1555501404
NM_001199107.2(TBC1D24):c.1116C>A (p.Ser372=)
NM_001199107.2(TBC1D24):c.1116C>T (p.Ser372=)
NM_001199107.2(TBC1D24):c.1119G>T (p.Leu373=) rs2141874428
NM_001199107.2(TBC1D24):c.1126G>A (p.Gly376Arg) rs796053408
NM_001199107.2(TBC1D24):c.1131C>G (p.Tyr377Ter) rs1567413218
NM_001199107.2(TBC1D24):c.1138G>T (p.Ala380Ser) rs2141874469
NM_001199107.2(TBC1D24):c.1141dup (p.Arg381fs) rs1205407936
NM_001199107.2(TBC1D24):c.1143-4C>A
NM_001199107.2(TBC1D24):c.1143-4C>T
NM_001199107.2(TBC1D24):c.1143-5G>T rs754105574
NM_001199107.2(TBC1D24):c.1143-9C>G
NM_001199107.2(TBC1D24):c.1153C>T (p.Gln385Ter) rs2065771024
NM_001199107.2(TBC1D24):c.115G>C (p.Ala39Pro) rs770363653
NM_001199107.2(TBC1D24):c.1167T>C (p.His389=) rs2065771222
NM_001199107.2(TBC1D24):c.116C>T (p.Ala39Val) rs773916549
NM_001199107.2(TBC1D24):c.1171C>G (p.Pro391Ala) rs1435411888
NM_001199107.2(TBC1D24):c.1180T>C (p.Leu394=)
NM_001199107.2(TBC1D24):c.1188C>G (p.Ile396Met)
NM_001199107.2(TBC1D24):c.1198_1200dup (p.Gln400dup) rs752216831
NM_001199107.2(TBC1D24):c.119G>A (p.Arg40His) rs760474458
NM_001199107.2(TBC1D24):c.119G>C (p.Arg40Pro)
NM_001199107.2(TBC1D24):c.1203G>A (p.Lys401=)
NM_001199107.2(TBC1D24):c.1206+11G>C
NM_001199107.2(TBC1D24):c.1206+14C>T
NM_001199107.2(TBC1D24):c.1206+20CCAGGGCTGGCTCTGATGGGCT[2] rs777798547
NM_001199107.2(TBC1D24):c.1206+20CCAGGGCTGGCTCTGATGGGCT[4] rs777798547
NM_001199107.2(TBC1D24):c.1206+9G>C
NM_001199107.2(TBC1D24):c.1207-19A>G
NM_001199107.2(TBC1D24):c.1207-20C>A rs757347903
NM_001199107.2(TBC1D24):c.1207-20C>T
NM_001199107.2(TBC1D24):c.1207-6C>T rs749626631
NM_001199107.2(TBC1D24):c.1207-7C>T rs1348586468
NM_001199107.2(TBC1D24):c.1209G>T (p.Val403=)
NM_001199107.2(TBC1D24):c.1213G>A (p.Gly405Ser)
NM_001199107.2(TBC1D24):c.121C>T (p.Gln41Ter) rs1057524191
NM_001199107.2(TBC1D24):c.1221C>T (p.Tyr407=) rs2065775888
NM_001199107.2(TBC1D24):c.1228A>G (p.Thr410Ala)
NM_001199107.2(TBC1D24):c.1235G>A (p.Trp412Ter)
NM_001199107.2(TBC1D24):c.1238G>A (p.Ser413Asn) rs2065776034
NM_001199107.2(TBC1D24):c.1244G>A (p.Arg415Lys)
NM_001199107.2(TBC1D24):c.1253T>G (p.Phe418Cys) rs776176742
NM_001199107.2(TBC1D24):c.1256G>C (p.Gly419Ala)
NM_001199107.2(TBC1D24):c.1269C>T (p.Gly423=)
NM_001199107.2(TBC1D24):c.1271T>G (p.Phe424Cys) rs1596972145
NM_001199107.2(TBC1D24):c.1278G>A (p.Gly426=) rs377748101
NM_001199107.2(TBC1D24):c.1282G>A (p.Gly428Arg)
NM_001199107.2(TBC1D24):c.1298T>C (p.Phe433Ser)
NM_001199107.2(TBC1D24):c.1299T>A (p.Phe433Leu)
NM_001199107.2(TBC1D24):c.1302+19C>T
NM_001199107.2(TBC1D24):c.1302+1G>T
NM_001199107.2(TBC1D24):c.1303-18A>G rs2141876962
NM_001199107.2(TBC1D24):c.1303-2A>G rs2141876985
NM_001199107.2(TBC1D24):c.1303-5C>A rs1468286638
NM_001199107.2(TBC1D24):c.1303-5C>G rs1468286638
NM_001199107.2(TBC1D24):c.1303-7A>G rs2141876976
NM_001199107.2(TBC1D24):c.1303-9C>G
NM_001199107.2(TBC1D24):c.1305G>C (p.Leu435=) rs774088745
NM_001199107.2(TBC1D24):c.1306C>T (p.Gln436Ter)
NM_001199107.2(TBC1D24):c.1317G>A (p.Val439=)
NM_001199107.2(TBC1D24):c.131G>A (p.Trp44Ter) rs1567411053
NM_001199107.2(TBC1D24):c.1320G>T (p.Gln440His)
NM_001199107.2(TBC1D24):c.1321C>G (p.Arg441Gly) rs775497984
NM_001199107.2(TBC1D24):c.1327G>C (p.Glu443Gln) rs141399869
NM_001199107.2(TBC1D24):c.1329G>A (p.Glu443=)
NM_001199107.2(TBC1D24):c.132G>A (p.Trp44Ter)
NM_001199107.2(TBC1D24):c.1335G>C (p.Val445=)
NM_001199107.2(TBC1D24):c.1341C>A (p.Ile447=) rs372317366
NM_001199107.2(TBC1D24):c.1342A>G (p.Lys448Glu)
NM_001199107.2(TBC1D24):c.1347C>T (p.His449=)
NM_001199107.2(TBC1D24):c.1358C>T (p.Thr453Ile)
NM_001199107.2(TBC1D24):c.1360_1363dup (p.Pro455fs) rs1292551263
NM_001199107.2(TBC1D24):c.1363C>G (p.Pro455Ala) rs2065781206
NM_001199107.2(TBC1D24):c.1367C>A (p.Pro456Gln) rs200641000
NM_001199107.2(TBC1D24):c.1367C>T (p.Pro456Leu) rs200641000
NM_001199107.2(TBC1D24):c.1369C>T (p.Pro457Ser)
NM_001199107.2(TBC1D24):c.1371C>G (p.Pro457=)
NM_001199107.2(TBC1D24):c.1374G>A (p.Leu458=)
NM_001199107.2(TBC1D24):c.1384G>T (p.Glu462Ter)
NM_001199107.2(TBC1D24):c.1384del (p.Glu462fs)
NM_001199107.2(TBC1D24):c.1393G>T (p.Ala465Ser)
NM_001199107.2(TBC1D24):c.1396C>G (p.Pro466Ala)
NM_001199107.2(TBC1D24):c.1397del (p.Pro466fs) rs2141877166
NM_001199107.2(TBC1D24):c.1399C>T (p.Leu467Phe)
NM_001199107.2(TBC1D24):c.1402_1409dup (p.Ser472fs)
NM_001199107.2(TBC1D24):c.1405C>T (p.His469Tyr) rs2065781840
NM_001199107.2(TBC1D24):c.1407C>T (p.His469=) rs2141877201
NM_001199107.2(TBC1D24):c.1409C>T (p.Ser470Phe)
NM_001199107.2(TBC1D24):c.1410C>A (p.Ser470=) rs553497128
NM_001199107.2(TBC1D24):c.1410C>G (p.Ser470=) rs553497128
NM_001199107.2(TBC1D24):c.1413C>T (p.Ala471=) rs761742075
NM_001199107.2(TBC1D24):c.1439C>T (p.Ser480Leu) rs2065782431
NM_001199107.2(TBC1D24):c.144C>G (p.His48Gln) rs765396824
NM_001199107.2(TBC1D24):c.144C>T (p.His48=) rs765396824
NM_001199107.2(TBC1D24):c.1450G>A (p.Ala484Thr)
NM_001199107.2(TBC1D24):c.1452C>T (p.Ala484=)
NM_001199107.2(TBC1D24):c.1454C>T (p.Ala485Val)
NM_001199107.2(TBC1D24):c.1466A>G (p.Asn489Ser)
NM_001199107.2(TBC1D24):c.1470G>T (p.Leu490=)
NM_001199107.2(TBC1D24):c.1471C>T (p.Pro491Ser) rs1326854687
NM_001199107.2(TBC1D24):c.1472C>T (p.Pro491Leu)
NM_001199107.2(TBC1D24):c.1474T>A (p.Ser492Thr) rs2141877364
NM_001199107.2(TBC1D24):c.147C>G (p.Ala49=)
NM_001199107.2(TBC1D24):c.1481C>G (p.Thr494Ser)
NM_001199107.2(TBC1D24):c.1482C>T (p.Thr494=) rs373862230
NM_001199107.2(TBC1D24):c.1488del (p.Met497fs)
NM_001199107.2(TBC1D24):c.1489A>G (p.Met497Val) rs2065783244
NM_001199107.2(TBC1D24):c.1495A>G (p.Met499Val) rs2065783330
NM_001199107.2(TBC1D24):c.1499C>G (p.Ala500Gly)
NM_001199107.2(TBC1D24):c.1500G>C (p.Ala500=) rs201059992
NM_001199107.2(TBC1D24):c.1505G>A (p.Gly502Asp)
NM_001199107.2(TBC1D24):c.1505dup (p.Ser503fs)
NM_001199107.2(TBC1D24):c.1506C>T (p.Gly502=) rs1302904331
NM_001199107.2(TBC1D24):c.1508G>A (p.Ser503Asn)
NM_001199107.2(TBC1D24):c.1510G>T (p.Asp504Tyr)
NM_001199107.2(TBC1D24):c.1525+10A>G
NM_001199107.2(TBC1D24):c.1525+6C>A
NM_001199107.2(TBC1D24):c.1526-1G>T
NM_001199107.2(TBC1D24):c.1526-2A>C rs1131691552
NM_001199107.2(TBC1D24):c.1526G>A (p.Gly509Glu)
NM_001199107.2(TBC1D24):c.1526G>T (p.Gly509Val) rs796053406
NM_001199107.2(TBC1D24):c.1538G>A (p.Gly513Asp)
NM_001199107.2(TBC1D24):c.1539C>T (p.Gly513=) rs1466557404
NM_001199107.2(TBC1D24):c.1540C>T (p.Gln514Ter) rs746057710
NM_001199107.2(TBC1D24):c.1548C>T (p.Leu516=) rs1555501692
NM_001199107.2(TBC1D24):c.1550A>G (p.Tyr517Cys)
NM_001199107.2(TBC1D24):c.1552A>G (p.Ile518Val)
NM_001199107.2(TBC1D24):c.1555G>A (p.Asp519Asn)
NM_001199107.2(TBC1D24):c.1555G>T (p.Asp519Tyr)
NM_001199107.2(TBC1D24):c.1559G>A (p.Gly520Glu)
NM_001199107.2(TBC1D24):c.155G>A (p.Gly52Glu) rs755313242
NM_001199107.2(TBC1D24):c.1560G>T (p.Gly520=) rs971385188
NM_001199107.2(TBC1D24):c.1561G>A (p.Asp521Asn) rs2065787303
NM_001199107.2(TBC1D24):c.1574G>A (p.Gly525Asp)
NM_001199107.2(TBC1D24):c.1574del (p.Gly525fs)
NM_001199107.2(TBC1D24):c.1577G>A (p.Arg526His) rs752301570
NM_001199107.2(TBC1D24):c.1579A>G (p.Thr527Ala)
NM_001199107.2(TBC1D24):c.1582A>G (p.Ser528Gly)
NM_001199107.2(TBC1D24):c.1583G>A (p.Ser528Asn)
NM_001199107.2(TBC1D24):c.1590C>G (p.Cys530Trp) rs1060502501
NM_001199107.2(TBC1D24):c.1591G>T (p.Asp531Tyr)
NM_001199107.2(TBC1D24):c.1601A>G (p.Asn534Ser)
NM_001199107.2(TBC1D24):c.1606del (p.Gln536fs) rs1567414972
NM_001199107.2(TBC1D24):c.1608G>A (p.Gln536=)
NM_001199107.2(TBC1D24):c.1609C>T (p.Pro537Ser) rs2065788002
NM_001199107.2(TBC1D24):c.160G>T (p.Val54Leu)
NM_001199107.2(TBC1D24):c.1610C>A (p.Pro537His)
NM_001199107.2(TBC1D24):c.1620C>G (p.Ser540=)
NM_001199107.2(TBC1D24):c.1623G>A (p.Glu541=) rs1596973590
NM_001199107.2(TBC1D24):c.1627T>C (p.Phe543Leu) rs1060502502
NM_001199107.2(TBC1D24):c.1629C>T (p.Phe543=)
NM_001199107.2(TBC1D24):c.162G>A (p.Val54=)
NM_001199107.2(TBC1D24):c.1633A>T (p.Ile545Phe)
NM_001199107.2(TBC1D24):c.1641C>A (p.Ala547=) rs553215090
NM_001199107.2(TBC1D24):c.1641C>G (p.Ala547=)
NM_001199107.2(TBC1D24):c.1641C>T (p.Ala547=) rs553215090
NM_001199107.2(TBC1D24):c.1642G>T (p.Val548Leu)
NM_001199107.2(TBC1D24):c.1644G>A (p.Val548=)
NM_001199107.2(TBC1D24):c.1655G>T (p.Gly552Val)
NM_001199107.2(TBC1D24):c.1668T>C (p.Pro556=)
NM_001199107.2(TBC1D24):c.1671C>T (p.Asp557=)
NM_001199107.2(TBC1D24):c.1674C>A (p.Thr558=)
NM_001199107.2(TBC1D24):c.167A>T (p.Gln56Leu) rs2141870903
NM_001199107.2(TBC1D24):c.16T>C (p.Tyr6His)
NM_001199107.2(TBC1D24):c.170G>A (p.Arg57His) rs370100394
NM_001199107.2(TBC1D24):c.172del (p.Arg57_Leu58insTer) rs1555501140
NM_001199107.2(TBC1D24):c.179G>C (p.Arg60Pro)
NM_001199107.2(TBC1D24):c.181G>T (p.Asp61Tyr)
NM_001199107.2(TBC1D24):c.184A>G (p.Ile62Val)
NM_001199107.2(TBC1D24):c.187C>T (p.Pro63Ser) rs952274725
NM_001199107.2(TBC1D24):c.192C>T (p.Cys64=) rs878854271
NM_001199107.2(TBC1D24):c.194G>A (p.Arg65His)
NM_001199107.2(TBC1D24):c.197C>G (p.Thr66Arg) rs371245371
NM_001199107.2(TBC1D24):c.1A>G (p.Met1Val) rs2141870575
NM_001199107.2(TBC1D24):c.206C>G (p.Pro69Arg)
NM_001199107.2(TBC1D24):c.210C>A (p.Asp70Glu)
NM_001199107.2(TBC1D24):c.215G>A (p.Ser72Asn) rs2141871042
NM_001199107.2(TBC1D24):c.216C>T (p.Ser72=) rs749814291
NM_001199107.2(TBC1D24):c.225C>A (p.Ser75Arg)
NM_001199107.2(TBC1D24):c.227A>G (p.Asp76Gly)
NM_001199107.2(TBC1D24):c.229A>T (p.Ile77Phe)
NM_001199107.2(TBC1D24):c.229ATCGTGGGCAAG[1] (p.77IVGK[1]) rs761918906
NM_001199107.2(TBC1D24):c.230T>C (p.Ile77Thr)
NM_001199107.2(TBC1D24):c.242T>C (p.Ile81Thr) rs1347306529
NM_001199107.2(TBC1D24):c.244G>A (p.Val82Met) rs747915584
NM_001199107.2(TBC1D24):c.244G>T (p.Val82Leu) rs747915584
NM_001199107.2(TBC1D24):c.247G>T (p.Gly83Cys)
NM_001199107.2(TBC1D24):c.24C>G (p.Cys8Trp)
NM_001199107.2(TBC1D24):c.253C>G (p.His85Asp) rs2065739166
NM_001199107.2(TBC1D24):c.253C>T (p.His85Tyr) rs2065739166
NM_001199107.2(TBC1D24):c.257G>A (p.Ser86Asn)
NM_001199107.2(TBC1D24):c.259A>G (p.Ser87Gly) rs2065739291
NM_001199107.2(TBC1D24):c.263G>A (p.Ser88Asn) rs2065739388
NM_001199107.2(TBC1D24):c.264C>T (p.Ser88=) rs2141871200
NM_001199107.2(TBC1D24):c.270_286del (p.Pro91fs)
NM_001199107.2(TBC1D24):c.274C>T (p.Leu92=)
NM_001199107.2(TBC1D24):c.284T>C (p.Phe95Ser)
NM_001199107.2(TBC1D24):c.285C>G (p.Phe95Leu)
NM_001199107.2(TBC1D24):c.286G>A (p.Val96Met)
NM_001199107.2(TBC1D24):c.286G>C (p.Val96Leu)
NM_001199107.2(TBC1D24):c.291C>T (p.Asp97=)
NM_001199107.2(TBC1D24):c.293A>C (p.Asn98Thr)
NM_001199107.2(TBC1D24):c.296C>T (p.Thr99Met)
NM_001199107.2(TBC1D24):c.299A>G (p.Gln100Arg)
NM_001199107.2(TBC1D24):c.303G>A (p.Val101=)
NM_001199107.2(TBC1D24):c.309dup (p.Tyr104fs)
NM_001199107.2(TBC1D24):c.317T>A (p.Leu106Gln)
NM_001199107.2(TBC1D24):c.317T>C (p.Leu106Pro)
NM_001199107.2(TBC1D24):c.321T>A (p.Asn107Lys) rs1057524192
NM_001199107.2(TBC1D24):c.321T>C (p.Asn107=)
NM_001199107.2(TBC1D24):c.325C>A (p.Arg109Ser)
NM_001199107.2(TBC1D24):c.325C>G (p.Arg109Gly) rs372337277
NM_001199107.2(TBC1D24):c.327C>T (p.Arg109=) rs754551693
NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser) rs747821285
NM_001199107.2(TBC1D24):c.331G>A (p.Glu111Lys) rs773211471
NM_001199107.2(TBC1D24):c.331G>C (p.Glu111Gln)
NM_001199107.2(TBC1D24):c.333G>T (p.Glu111Asp)
NM_001199107.2(TBC1D24):c.337dup (p.Ala113fs)
NM_001199107.2(TBC1D24):c.339C>A (p.Ala113=)
NM_001199107.2(TBC1D24):c.346A>G (p.Lys116Glu)
NM_001199107.2(TBC1D24):c.348G>A (p.Lys116=)
NM_001199107.2(TBC1D24):c.348G>T (p.Lys116Asn)
NM_001199107.2(TBC1D24):c.352C>T (p.Leu118Phe)
NM_001199107.2(TBC1D24):c.354C>G (p.Leu118=) rs2141871420
NM_001199107.2(TBC1D24):c.368A>G (p.Asn123Ser) rs1457138817
NM_001199107.2(TBC1D24):c.36A>G (p.Lys12=) rs752594126
NM_001199107.2(TBC1D24):c.373T>C (p.Phe125Leu) rs1567411503
NM_001199107.2(TBC1D24):c.376C>T (p.Pro126Ser)
NM_001199107.2(TBC1D24):c.379G>A (p.Asp127Asn) rs750962753
NM_001199107.2(TBC1D24):c.380A>G (p.Asp127Gly)
NM_001199107.2(TBC1D24):c.384C>T (p.Ile128=) rs754479878
NM_001199107.2(TBC1D24):c.393C>G (p.Cys131Trp) rs777604231
NM_001199107.2(TBC1D24):c.394C>T (p.Pro132Ser) rs1489466696
NM_001199107.2(TBC1D24):c.396C>T (p.Pro132=) rs371937830
NM_001199107.2(TBC1D24):c.397G>T (p.Ala133Ser)
NM_001199107.2(TBC1D24):c.398C>T (p.Ala133Val) rs2065741608
NM_001199107.2(TBC1D24):c.39C>T (p.Asp13=)
NM_001199107.2(TBC1D24):c.400C>T (p.Leu134=) rs2065741660
NM_001199107.2(TBC1D24):c.401T>C (p.Leu134Pro) rs2065741689
NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu) rs1057519630
NM_001199107.2(TBC1D24):c.409G>T (p.Val137Leu) rs200263150
NM_001199107.2(TBC1D24):c.417C>A (p.Ala139=)
NM_001199107.2(TBC1D24):c.418C>G (p.Leu140Val) rs1274130724
NM_001199107.2(TBC1D24):c.418C>T (p.Leu140=)
NM_001199107.2(TBC1D24):c.428A>C (p.His143Pro)
NM_001199107.2(TBC1D24):c.430T>C (p.Tyr144His)
NM_001199107.2(TBC1D24):c.431A>G (p.Tyr144Cys) rs1596968109
NM_001199107.2(TBC1D24):c.434G>A (p.Ser145Asn) rs2141871675
NM_001199107.2(TBC1D24):c.438C>T (p.Ile146=) rs776944981
NM_001199107.2(TBC1D24):c.439G>C (p.Asp147His) rs267607103
NM_001199107.2(TBC1D24):c.442G>A (p.Glu148Lys) rs763626059
NM_001199107.2(TBC1D24):c.442G>T (p.Glu148Ter) rs763626059
NM_001199107.2(TBC1D24):c.445dup (p.Ala149fs)
NM_001199107.2(TBC1D24):c.446C>T (p.Ala149Val) rs2065742678
NM_001199107.2(TBC1D24):c.448G>A (p.Glu150Lys)
NM_001199107.2(TBC1D24):c.453C>T (p.Cys151=)
NM_001199107.2(TBC1D24):c.455T>C (p.Phe152Ser)
NM_001199107.2(TBC1D24):c.456C>T (p.Phe152=) rs2065742840
NM_001199107.2(TBC1D24):c.458A>C (p.Glu153Ala) rs1424074905
NM_001199107.2(TBC1D24):c.458A>G (p.Glu153Gly)
NM_001199107.2(TBC1D24):c.459G>C (p.Glu153Asp) rs1169312508
NM_001199107.2(TBC1D24):c.45G>C (p.Met15Ile)
NM_001199107.2(TBC1D24):c.461A>G (p.Lys154Arg)
NM_001199107.2(TBC1D24):c.463G>C (p.Ala155Pro)
NM_001199107.2(TBC1D24):c.465C>T (p.Ala155=) rs1596968205
NM_001199107.2(TBC1D24):c.468C>A (p.Cys156Ter) rs397514714
NM_001199107.2(TBC1D24):c.469C>T (p.Arg157Cys)
NM_001199107.2(TBC1D24):c.475del (p.Leu159fs) rs796053403
NM_001199107.2(TBC1D24):c.477G>C (p.Leu159=)
NM_001199107.2(TBC1D24):c.487G>T (p.Asp163Tyr)
NM_001199107.2(TBC1D24):c.489C>T (p.Asp163=)
NM_001199107.2(TBC1D24):c.490C>T (p.Pro164Ser)
NM_001199107.2(TBC1D24):c.492C>T (p.Pro164=) rs369172908
NM_001199107.2(TBC1D24):c.493G>T (p.Gly165Cys)
NM_001199107.2(TBC1D24):c.500G>C (p.Arg167Thr)
NM_001199107.2(TBC1D24):c.507C>T (p.Ile169=) rs529104933
NM_001199107.2(TBC1D24):c.508G>A (p.Asp170Asn)
NM_001199107.2(TBC1D24):c.524C>A (p.Ala175Asp) rs2065744128
NM_001199107.2(TBC1D24):c.524C>G (p.Ala175Gly) rs2065744128
NM_001199107.2(TBC1D24):c.533C>G (p.Ser178Trp) rs483352866
NM_001199107.2(TBC1D24):c.538T>C (p.Cys180Arg)
NM_001199107.2(TBC1D24):c.540C>A (p.Cys180Ter)
NM_001199107.2(TBC1D24):c.543G>A (p.Met181Ile)
NM_001199107.2(TBC1D24):c.554_559del (p.Asp185_Leu186del) rs1215641557
NM_001199107.2(TBC1D24):c.555C>T (p.Asp185=)
NM_001199107.2(TBC1D24):c.556C>G (p.Leu186Val) rs1555501245
NM_001199107.2(TBC1D24):c.56del (p.Ile19fs) rs2141870681
NM_001199107.2(TBC1D24):c.57C>A (p.Ile19=)
NM_001199107.2(TBC1D24):c.585C>G (p.His195Gln)
NM_001199107.2(TBC1D24):c.587A>G (p.Lys196Arg) rs758299397
NM_001199107.2(TBC1D24):c.596T>C (p.Val199Ala)
NM_001199107.2(TBC1D24):c.600C>T (p.Ala200=)
NM_001199107.2(TBC1D24):c.605C>T (p.Ser202Leu) rs796053400
NM_001199107.2(TBC1D24):c.612T>C (p.Asp204=)
NM_001199107.2(TBC1D24):c.621G>C (p.Gln207His) rs876658012
NM_001199107.2(TBC1D24):c.624C>T (p.Val208=)
NM_001199107.2(TBC1D24):c.628G>A (p.Ala210Thr) rs2141872095
NM_001199107.2(TBC1D24):c.631G>A (p.Asp211Asn)
NM_001199107.2(TBC1D24):c.632A>G (p.Asp211Gly) rs1596968508
NM_001199107.2(TBC1D24):c.636G>A (p.Trp212Ter) rs2141872114
NM_001199107.2(TBC1D24):c.642_793del (p.Trp215fs) rs2141872119
NM_001199107.2(TBC1D24):c.650T>A (p.Phe217Tyr) rs1441237124
NM_001199107.2(TBC1D24):c.655G>A (p.Glu219Lys) rs1159293544
NM_001199107.2(TBC1D24):c.656A>G (p.Glu219Gly)
NM_001199107.2(TBC1D24):c.659T>C (p.Leu220Pro) rs2065745991
NM_001199107.2(TBC1D24):c.668_669delinsAA (p.Cys223Ter)
NM_001199107.2(TBC1D24):c.675C>T (p.Phe225=)
NM_001199107.2(TBC1D24):c.67G>C (p.Gly23Arg) rs2141870701
NM_001199107.2(TBC1D24):c.680G>A (p.Arg227Gln) rs756181906
NM_001199107.2(TBC1D24):c.683T>A (p.Val228Asp)
NM_001199107.2(TBC1D24):c.686T>C (p.Phe229Ser) rs397514713
NM_001199107.2(TBC1D24):c.68G>A (p.Gly23Glu) rs1567410958
NM_001199107.2(TBC1D24):c.69G>A (p.Gly23=)
NM_001199107.2(TBC1D24):c.702G>A (p.Val234=) rs188739853
NM_001199107.2(TBC1D24):c.702G>C (p.Val234=) rs188739853
NM_001199107.2(TBC1D24):c.710A>G (p.Tyr237Cys)
NM_001199107.2(TBC1D24):c.714G>C (p.Lys238Asn)
NM_001199107.2(TBC1D24):c.715del (p.Val239fs) rs2141872348
NM_001199107.2(TBC1D24):c.717G>A (p.Val239=)
NM_001199107.2(TBC1D24):c.719T>G (p.Leu240Arg)
NM_001199107.2(TBC1D24):c.721T>A (p.Tyr241Asn)
NM_001199107.2(TBC1D24):c.731C>A (p.Ala244Glu) rs375873110
NM_001199107.2(TBC1D24):c.746A>T (p.Lys249Met)
NM_001199107.2(TBC1D24):c.750C>G (p.Phe250Leu) rs1555501289
NM_001199107.2(TBC1D24):c.751T>G (p.Phe251Val) rs267607104
NM_001199107.2(TBC1D24):c.752del (p.Phe251fs) rs766769998
NM_001199107.2(TBC1D24):c.759G>C (p.Lys253Asn) rs190306450
NM_001199107.2(TBC1D24):c.769G>A (p.Gly257Arg)
NM_001199107.2(TBC1D24):c.769G>T (p.Gly257Trp) rs1440897868
NM_001199107.2(TBC1D24):c.76G>A (p.Glu26Lys) rs369120050
NM_001199107.2(TBC1D24):c.76_77delinsTT (p.Glu26Leu) rs2065735848
NM_001199107.2(TBC1D24):c.771G>A (p.Gly257=)
NM_001199107.2(TBC1D24):c.776C>T (p.Pro259Leu) rs779398267
NM_001199107.2(TBC1D24):c.777G>A (p.Pro259=)
NM_001199107.2(TBC1D24):c.777G>T (p.Pro259=)
NM_001199107.2(TBC1D24):c.781G>C (p.Glu261Gln) rs2065747894
NM_001199107.2(TBC1D24):c.787G>C (p.Asp263His) rs2065747955
NM_001199107.2(TBC1D24):c.790A>G (p.Ser264Gly)
NM_001199107.2(TBC1D24):c.791G>A (p.Ser264Asn)
NM_001199107.2(TBC1D24):c.792C>T (p.Ser264=) rs769290045
NM_001199107.2(TBC1D24):c.793G>T (p.Val265Leu) rs772768393
NM_001199107.2(TBC1D24):c.804C>T (p.Asp268=)
NM_001199107.2(TBC1D24):c.806del (p.Ile269fs) rs2141872499
NM_001199107.2(TBC1D24):c.807C>G (p.Ile269Met) rs762576413
NM_001199107.2(TBC1D24):c.811A>G (p.Thr271Ala)
NM_001199107.2(TBC1D24):c.812C>T (p.Thr271Met) rs1328684138
NM_001199107.2(TBC1D24):c.816C>T (p.Phe272=) rs796053402
NM_001199107.2(TBC1D24):c.820_822del (p.Arg274del) rs2141872549
NM_001199107.2(TBC1D24):c.824A>G (p.Asp275Gly) rs2141872557
NM_001199107.2(TBC1D24):c.828C>G (p.Ile276Met)
NM_001199107.2(TBC1D24):c.829G>T (p.Ala277Ser) rs754019727
NM_001199107.2(TBC1D24):c.831G>A (p.Ala277=)
NM_001199107.2(TBC1D24):c.837G>A (p.Thr279=)
NM_001199107.2(TBC1D24):c.837G>T (p.Thr279=)
NM_001199107.2(TBC1D24):c.838G>A (p.Val280Met) rs867618745
NM_001199107.2(TBC1D24):c.840G>A (p.Val280=)
NM_001199107.2(TBC1D24):c.841T>C (p.Ser281Pro)
NM_001199107.2(TBC1D24):c.842C>A (p.Ser281Tyr)
NM_001199107.2(TBC1D24):c.846T>C (p.Pro282=)
NM_001199107.2(TBC1D24):c.855G>C (p.Leu285=) rs769201984
NM_001199107.2(TBC1D24):c.867G>A (p.Ala289=) rs1328290571
NM_001199107.2(TBC1D24):c.86G>T (p.Cys29Phe) rs2065735946
NM_001199107.2(TBC1D24):c.889C>T (p.Arg297Cys) rs1351414664
NM_001199107.2(TBC1D24):c.88A>G (p.Thr30Ala) rs2065736000
NM_001199107.2(TBC1D24):c.890G>A (p.Arg297His) rs760666914
NM_001199107.2(TBC1D24):c.890G>T (p.Arg297Leu) rs760666914
NM_001199107.2(TBC1D24):c.916G>A (p.Ala306Thr) rs2141872755
NM_001199107.2(TBC1D24):c.919A>C (p.Asn307His) rs1555501320
NM_001199107.2(TBC1D24):c.929C>T (p.Ala310Val) rs1160994039
NM_001199107.2(TBC1D24):c.930C>T (p.Ala310=)
NM_001199107.2(TBC1D24):c.944G>A (p.Gly315Asp)
NM_001199107.2(TBC1D24):c.954G>A (p.Val318=)
NM_001199107.2(TBC1D24):c.955A>C (p.Lys319Gln) rs2141872821
NM_001199107.2(TBC1D24):c.95T>G (p.Leu32Arg) rs2141870761
NM_001199107.2(TBC1D24):c.963G>T (p.Lys321Asn) rs2141872825
NM_001199107.2(TBC1D24):c.965+11G>C rs568663296
NM_001199107.2(TBC1D24):c.965+15G>T
NM_001199107.2(TBC1D24):c.965+16C>G rs2065750449
NM_001199107.2(TBC1D24):c.965+16C>T
NM_001199107.2(TBC1D24):c.965+17C>T
NM_001199107.2(TBC1D24):c.965+1G>T
NM_001199107.2(TBC1D24):c.965+4G>C rs781629915
NM_001199107.2(TBC1D24):c.965+8G>T rs372247100
NM_001199107.2(TBC1D24):c.965G>A (p.Ser322Asn) rs1567412410
NM_001199107.2(TBC1D24):c.966-10T>A rs1217245218
NM_001199107.2(TBC1D24):c.966-10T>C
NM_001199107.2(TBC1D24):c.966-11C>T
NM_001199107.2(TBC1D24):c.966-12_966-10del rs2065755511
NM_001199107.2(TBC1D24):c.966-5T>C
NM_001199107.2(TBC1D24):c.967G>A (p.Val323Met)
NM_001199107.2(TBC1D24):c.971C>T (p.Ser324Leu) rs1567412736
NM_001199107.2(TBC1D24):c.972A>G (p.Ser324=)
NM_001199107.2(TBC1D24):c.977C>A (p.Ser326Tyr) rs2141873571
NM_001199107.2(TBC1D24):c.979A>T (p.Lys327Ter) rs2065755770
NM_001199107.2(TBC1D24):c.983+15_983+16del rs1064794673
NM_001199107.2(TBC1D24):c.983+19C>G rs2141873600
NM_001199107.2(TBC1D24):c.983+1G>C rs2141873582
NM_001199107.2(TBC1D24):c.983+2T>C rs1596969717
NM_001199107.2(TBC1D24):c.984-11G>A rs1297656612
NM_001199107.2(TBC1D24):c.984-16T>C
NM_001199107.2(TBC1D24):c.984-5C>T rs535021783
NM_001199107.2(TBC1D24):c.984-7C>T rs1432999070
NM_001199107.2(TBC1D24):c.984G>A (p.Arg328=) rs774492330
NM_001199107.2(TBC1D24):c.991G>A (p.Val331Ile)
NM_001199107.2(TBC1D24):c.994C>T (p.His332Tyr)
NM_001614.5(ACTG1):c.1013C>G (p.Ser338Trp) rs1192977984
NM_001614.5(ACTG1):c.1017G>A (p.Val339=)
NM_001614.5(ACTG1):c.1036C>G (p.Leu346Val) rs782217473
NM_001614.5(ACTG1):c.1036C>T (p.Leu346=)
NM_001614.5(ACTG1):c.1041C>G (p.Ala347=)
NM_001614.5(ACTG1):c.1044A>T (p.Ser348=)
NM_001614.5(ACTG1):c.1049C>T (p.Ser350Phe)
NM_001614.5(ACTG1):c.1050C>T (p.Ser350=)
NM_001614.5(ACTG1):c.1053C>G (p.Thr351=) rs148267855
NM_001614.5(ACTG1):c.1056C>T (p.Phe352=) rs2031713483
NM_001614.5(ACTG1):c.1064T>G (p.Met355Arg)
NM_001614.5(ACTG1):c.1077G>A (p.Lys359=)
NM_001614.5(ACTG1):c.1089C>T (p.Asp363=)
NM_001614.5(ACTG1):c.1097G>A (p.Gly366Asp)
NM_001614.5(ACTG1):c.1098C>G (p.Gly366=)
NM_001614.5(ACTG1):c.1098C>T (p.Gly366=)
NM_001614.5(ACTG1):c.1103C>T (p.Ser368Phe) rs1555666360
NM_001614.5(ACTG1):c.1104C>G (p.Ser368=)
NM_001614.5(ACTG1):c.1110C>T (p.Val370=) rs727502879
NM_001614.5(ACTG1):c.1121G>A (p.Cys374Tyr)
NM_001614.5(ACTG1):c.114C>T (p.Pro38=)
NM_001614.5(ACTG1):c.123+15C>T
NM_001614.5(ACTG1):c.123+16C>T
NM_001614.5(ACTG1):c.123+18C>T
NM_001614.5(ACTG1):c.123+5G>C
NM_001614.5(ACTG1):c.123+7G>A
NM_001614.5(ACTG1):c.124-19G>A
NM_001614.5(ACTG1):c.124-20_124-16dup
NM_001614.5(ACTG1):c.124-4G>C rs782481421
NM_001614.5(ACTG1):c.124-6C>T
NM_001614.5(ACTG1):c.124-6dup
NM_001614.5(ACTG1):c.124-8C>T rs201279208
NM_001614.5(ACTG1):c.124-9C>A
NM_001614.5(ACTG1):c.128T>C (p.Val43Ala) rs1555667138
NM_001614.5(ACTG1):c.151G>A (p.Asp51Asn)
NM_001614.5(ACTG1):c.153C>T (p.Asp51=)
NM_001614.5(ACTG1):c.156C>T (p.Ser52=)
NM_001614.5(ACTG1):c.15C>A (p.Ile5=) rs199657153
NM_001614.5(ACTG1):c.15C>T (p.Ile5=) rs199657153
NM_001614.5(ACTG1):c.160G>A (p.Val54Met) rs2143784086
NM_001614.5(ACTG1):c.165C>G (p.Gly55=) rs146402466
NM_001614.5(ACTG1):c.174C>G (p.Ala58=) rs782205858
NM_001614.5(ACTG1):c.174C>T (p.Ala58=)
NM_001614.5(ACTG1):c.188G>C (p.Gly63Ala)
NM_001614.5(ACTG1):c.189C>T (p.Gly63=)
NM_001614.5(ACTG1):c.192C>A (p.Ile64=)
NM_001614.5(ACTG1):c.195G>A (p.Leu65=)
NM_001614.5(ACTG1):c.198C>T (p.Thr66=)
NM_001614.5(ACTG1):c.199C>T (p.Leu67=)
NM_001614.5(ACTG1):c.201G>T (p.Leu67=)
NM_001614.5(ACTG1):c.219T>C (p.His73=)
NM_001614.5(ACTG1):c.230C>G (p.Thr77Ser) rs2143783478
NM_001614.5(ACTG1):c.231C>G (p.Thr77=)
NM_001614.5(ACTG1):c.234C>T (p.Asn78=)
NM_001614.5(ACTG1):c.235T>C (p.Trp79Arg)
NM_001614.5(ACTG1):c.240C>T (p.Asp80=)
NM_001614.5(ACTG1):c.243C>T (p.Asp81=)
NM_001614.5(ACTG1):c.252G>A (p.Lys84=)
NM_001614.5(ACTG1):c.260A>T (p.His87Leu) rs2143783289
NM_001614.5(ACTG1):c.267C>G (p.Thr89=)
NM_001614.5(ACTG1):c.269T>C (p.Phe90Ser)
NM_001614.5(ACTG1):c.276C>T (p.Asn92=)
NM_001614.5(ACTG1):c.279G>A (p.Glu93=)
NM_001614.5(ACTG1):c.280C>G (p.Leu94Val) rs782388764
NM_001614.5(ACTG1):c.28A>G (p.Ile10Val)
NM_001614.5(ACTG1):c.300G>A (p.Glu100=)
NM_001614.5(ACTG1):c.311T>A (p.Leu104Gln)
NM_001614.5(ACTG1):c.313C>T (p.Leu105=)
NM_001614.5(ACTG1):c.315G>A (p.Leu105=) rs202094234
NM_001614.5(ACTG1):c.318C>G (p.Thr106=) rs372370199
NM_001614.5(ACTG1):c.324C>G (p.Ala108=)
NM_001614.5(ACTG1):c.336C>G (p.Pro112=)
NM_001614.5(ACTG1):c.336C>T (p.Pro112=)
NM_001614.5(ACTG1):c.339G>A (p.Lys113=)
NM_001614.5(ACTG1):c.33C>T (p.Asp11=)
NM_001614.5(ACTG1):c.341C>T (p.Ala114Val)
NM_001614.5(ACTG1):c.342C>T (p.Ala114=)
NM_001614.5(ACTG1):c.346dup (p.Arg116fs)
NM_001614.5(ACTG1):c.348A>G (p.Arg116=)
NM_001614.5(ACTG1):c.349_352del (p.Glu117fs) rs2143782665
NM_001614.5(ACTG1):c.363+10G>T
NM_001614.5(ACTG1):c.363+11G>A
NM_001614.5(ACTG1):c.363+11G>C rs2031818208
NM_001614.5(ACTG1):c.363+16C>T
NM_001614.5(ACTG1):c.363+17G>A rs782044225
NM_001614.5(ACTG1):c.363+19C>T
NM_001614.5(ACTG1):c.363+20C>T rs782132566
NM_001614.5(ACTG1):c.363+4A>C
NM_001614.5(ACTG1):c.363+7C>T
NM_001614.5(ACTG1):c.364-15C>G
NM_001614.5(ACTG1):c.364-15C>T
NM_001614.5(ACTG1):c.364-16C>T
NM_001614.5(ACTG1):c.364-17C>G
NM_001614.5(ACTG1):c.364-17C>T
NM_001614.5(ACTG1):c.364-18C>T
NM_001614.5(ACTG1):c.364-19G>A
NM_001614.5(ACTG1):c.364-19G>C
NM_001614.5(ACTG1):c.364-19G>T rs374818782
NM_001614.5(ACTG1):c.364-3C>G
NM_001614.5(ACTG1):c.364-9_364-3dup
NM_001614.5(ACTG1):c.36T>C (p.Asn12=)
NM_001614.5(ACTG1):c.375G>A (p.Glu125=)
NM_001614.5(ACTG1):c.376A>G (p.Thr126Ala)
NM_001614.5(ACTG1):c.377C>T (p.Thr126Ile) rs876657740
NM_001614.5(ACTG1):c.378C>G (p.Thr126=)
NM_001614.5(ACTG1):c.387C>A (p.Thr129=) rs2143779666
NM_001614.5(ACTG1):c.389C>A (p.Pro130Gln) rs1555666823
NM_001614.5(ACTG1):c.395T>C (p.Met132Thr) rs1555666818
NM_001614.5(ACTG1):c.404C>T (p.Ala135Val) rs11549190
NM_001614.5(ACTG1):c.414C>A (p.Ala138=)
NM_001614.5(ACTG1):c.414C>G (p.Ala138=)
NM_001614.5(ACTG1):c.414C>T (p.Ala138=) rs143978597
NM_001614.5(ACTG1):c.420G>A (p.Leu140=)
NM_001614.5(ACTG1):c.423C>T (p.Ser141=)
NM_001614.5(ACTG1):c.426C>G (p.Leu142=) rs112043655
NM_001614.5(ACTG1):c.426C>T (p.Leu142=)
NM_001614.5(ACTG1):c.42C>T (p.Ser14=)
NM_001614.5(ACTG1):c.430G>A (p.Ala144Thr) rs11549196
NM_001614.5(ACTG1):c.431C>T (p.Ala144Val)
NM_001614.5(ACTG1):c.432C>T (p.Ala144=) rs372748659
NM_001614.5(ACTG1):c.433T>G (p.Ser145Ala) rs2143779284
NM_001614.5(ACTG1):c.434C>G (p.Ser145Cys)
NM_001614.5(ACTG1):c.442A>G (p.Thr148Ala)
NM_001614.5(ACTG1):c.444C>T (p.Thr148=)
NM_001614.5(ACTG1):c.445A>G (p.Thr149Ala) rs781968214
NM_001614.5(ACTG1):c.450C>T (p.Gly150=)
NM_001614.5(ACTG1):c.453T>C (p.Ile151=)
NM_001614.5(ACTG1):c.456C>G (p.Val152=) rs11549208
NM_001614.5(ACTG1):c.456C>T (p.Val152=)
NM_001614.5(ACTG1):c.457A>G (p.Met153Val) rs1555666789
NM_001614.5(ACTG1):c.458T>C (p.Met153Thr)
NM_001614.5(ACTG1):c.474G>T (p.Gly158=)
NM_001614.5(ACTG1):c.483C>T (p.His161=)
NM_001614.5(ACTG1):c.489G>C (p.Val163=)
NM_001614.5(ACTG1):c.507C>T (p.Tyr169=)
NM_001614.5(ACTG1):c.513C>A (p.Leu171=)
NM_001614.5(ACTG1):c.522C>T (p.Ala174=)
NM_001614.5(ACTG1):c.525C>A (p.Ile175=)
NM_001614.5(ACTG1):c.525C>G (p.Ile175Met) rs146667866
NM_001614.5(ACTG1):c.525C>T (p.Ile175=)
NM_001614.5(ACTG1):c.526C>T (p.Leu176=)
NM_001614.5(ACTG1):c.537C>T (p.Asp179=)
NM_001614.5(ACTG1):c.547C>T (p.Arg183Trp) rs1362994447
NM_001614.5(ACTG1):c.548G>A (p.Arg183Gln) rs781945750
NM_001614.5(ACTG1):c.553C>T (p.Leu185=)
NM_001614.5(ACTG1):c.558C>A (p.Thr186=)
NM_001614.5(ACTG1):c.558C>G (p.Thr186=) rs142893042
NM_001614.5(ACTG1):c.558C>T (p.Thr186=) rs142893042
NM_001614.5(ACTG1):c.567C>T (p.Leu189=)
NM_001614.5(ACTG1):c.576C>T (p.Ile192=) rs186443800
NM_001614.5(ACTG1):c.583G>A (p.Glu195Lys) rs2143778304
NM_001614.5(ACTG1):c.585G>A (p.Glu195=) rs1598548706
NM_001614.5(ACTG1):c.591C>G (p.Gly197=)
NM_001614.5(ACTG1):c.5A>G (p.Glu2Gly)
NM_001614.5(ACTG1):c.5A>T (p.Glu2Val)
NM_001614.5(ACTG1):c.600C>T (p.Phe200=)
NM_001614.5(ACTG1):c.603C>T (p.Thr201=)
NM_001614.5(ACTG1):c.612C>G (p.Ala204=)
NM_001614.5(ACTG1):c.616C>T (p.Arg206Trp) rs1598548614
NM_001614.5(ACTG1):c.617G>A (p.Arg206Gln) rs1555666715
NM_001614.5(ACTG1):c.621A>C (p.Glu207Asp)
NM_001614.5(ACTG1):c.624C>A (p.Ile208=)
NM_001614.5(ACTG1):c.629G>A (p.Arg210His) rs1555666709
NM_001614.5(ACTG1):c.630C>T (p.Arg210=)
NM_001614.5(ACTG1):c.636C>T (p.Ile212=)
NM_001614.5(ACTG1):c.645G>A (p.Lys215=)
NM_001614.5(ACTG1):c.658G>A (p.Ala220Thr)
NM_001614.5(ACTG1):c.660C>T (p.Ala220=)
NM_001614.5(ACTG1):c.675G>A (p.Gln225=)
NM_001614.5(ACTG1):c.688G>A (p.Ala230Thr)
NM_001614.5(ACTG1):c.689C>A (p.Ala230Asp)
NM_001614.5(ACTG1):c.692C>T (p.Ala231Val)
NM_001614.5(ACTG1):c.693A>T (p.Ala231=)
NM_001614.5(ACTG1):c.698C>T (p.Ser233Phe)
NM_001614.5(ACTG1):c.699C>G (p.Ser233=)
NM_001614.5(ACTG1):c.699C>T (p.Ser233=)
NM_001614.5(ACTG1):c.701C>T (p.Ser234Phe) rs11549179
NM_001614.5(ACTG1):c.704_706del (p.Ser235del) rs782541695
NM_001614.5(ACTG1):c.706C>T (p.Leu236=)
NM_001614.5(ACTG1):c.714_716del (p.Lys238_Ser239delinsAsn)
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys) rs267606631
NM_001614.5(ACTG1):c.723G>A (p.Glu241=)
NM_001614.5(ACTG1):c.724C>T (p.Leu242=)
NM_001614.5(ACTG1):c.737A>T (p.Gln246Leu) rs1568061110
NM_001614.5(ACTG1):c.747C>T (p.Thr249=)
NM_001614.5(ACTG1):c.753C>T (p.Gly251=)
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp) rs281875328
NM_001614.5(ACTG1):c.763T>C (p.Phe255Leu)
NM_001614.5(ACTG1):c.771T>C (p.Cys257=)
NM_001614.5(ACTG1):c.773C>T (p.Pro258Leu) rs11549191
NM_001614.5(ACTG1):c.780G>C (p.Ala260=)
NM_001614.5(ACTG1):c.792T>C (p.Pro264=)
NM_001614.5(ACTG1):c.799C>T (p.Leu267=)
NM_001614.5(ACTG1):c.802+15C>T
NM_001614.5(ACTG1):c.802+7G>A
NM_001614.5(ACTG1):c.803-11C>T
NM_001614.5(ACTG1):c.803-18del
NM_001614.5(ACTG1):c.803-20G>A rs374821448
NM_001614.5(ACTG1):c.803-20G>C rs374821448
NM_001614.5(ACTG1):c.803-4C>G
NM_001614.5(ACTG1):c.803-7C>T rs150136833
NM_001614.5(ACTG1):c.803-9G>A
NM_001614.5(ACTG1):c.804T>C (p.Gly268=)
NM_001614.5(ACTG1):c.805A>G (p.Met269Val) rs2143775987
NM_001614.5(ACTG1):c.807G>A (p.Met269Ile) rs2143775969
NM_001614.5(ACTG1):c.813T>C (p.Ser271=)
NM_001614.5(ACTG1):c.817G>A (p.Gly273Ser)
NM_001614.5(ACTG1):c.819C>T (p.Gly273=)
NM_001614.5(ACTG1):c.823C>T (p.His275Tyr)
NM_001614.5(ACTG1):c.828G>C (p.Glu276Asp)
NM_001614.5(ACTG1):c.82C>T (p.Arg28Ter)
NM_001614.5(ACTG1):c.830C>T (p.Thr277Ile) rs2143775764
NM_001614.5(ACTG1):c.831C>T (p.Thr277=) rs1555666523
NM_001614.5(ACTG1):c.833C>T (p.Thr278Ile) rs28999112
NM_001614.5(ACTG1):c.834C>T (p.Thr278=)
NM_001614.5(ACTG1):c.837C>T (p.Phe279=)
NM_001614.5(ACTG1):c.840C>T (p.Asn280=)
NM_001614.5(ACTG1):c.846C>T (p.Ile282=)
NM_001614.5(ACTG1):c.852G>A (p.Lys284=)
NM_001614.5(ACTG1):c.855T>C (p.Cys285=)
NM_001614.5(ACTG1):c.859G>A (p.Val287Met) rs2143775561
NM_001614.5(ACTG1):c.864C>T (p.Asp288=)
NM_001614.5(ACTG1):c.872A>G (p.Lys291Arg) rs1568060667
NM_001614.5(ACTG1):c.876C>T (p.Asp292=)
NM_001614.5(ACTG1):c.87C>T (p.Ala29=) rs11549232
NM_001614.5(ACTG1):c.882C>T (p.Tyr294=)
NM_001614.5(ACTG1):c.898T>G (p.Ser300Ala)
NM_001614.5(ACTG1):c.900G>A (p.Ser300=)
NM_001614.5(ACTG1):c.906C>T (p.Gly302=)
NM_001614.5(ACTG1):c.909C>A (p.Thr303=)
NM_001614.5(ACTG1):c.912C>T (p.Thr304=)
NM_001614.5(ACTG1):c.914T>C (p.Met305Thr)
NM_001614.5(ACTG1):c.930C>G (p.Ala310=)
NM_001614.5(ACTG1):c.932A>T (p.Asp311Val)
NM_001614.5(ACTG1):c.933C>T (p.Asp311=)
NM_001614.5(ACTG1):c.941A>G (p.Gln314Arg)
NM_001614.5(ACTG1):c.943A>G (p.Lys315Glu)
NM_001614.5(ACTG1):c.94C>T (p.Pro32Ser) rs1598551290
NM_001614.5(ACTG1):c.958C>T (p.Leu320=)
NM_001614.5(ACTG1):c.960G>C (p.Leu320=)
NM_001614.5(ACTG1):c.971C>T (p.Thr324Ile)
NM_001614.5(ACTG1):c.983A>G (p.Lys328Arg)
NM_001614.5(ACTG1):c.984+12G>A
NM_001614.5(ACTG1):c.984+13G>A
NM_001614.5(ACTG1):c.984+13G>C
NM_001614.5(ACTG1):c.984+17G>C
NM_001614.5(ACTG1):c.984+18_984+20del
NM_001614.5(ACTG1):c.984+19G>A
NM_001614.5(ACTG1):c.984+20G>A
NM_001614.5(ACTG1):c.984+7C>G
NM_001614.5(ACTG1):c.984+8G>A
NM_001614.5(ACTG1):c.985-10G>A
NM_001614.5(ACTG1):c.985-10G>C
NM_001614.5(ACTG1):c.985-16C>T
NM_001614.5(ACTG1):c.985-25_985-10dup
NM_001614.5(ACTG1):c.985-5T>G
NM_001614.5(ACTG1):c.985-5dup rs782289893
NM_001614.5(ACTG1):c.990C>A (p.Ile330=)
NM_001614.5(ACTG1):c.990C>T (p.Ile330=)
NM_001614.5(ACTG1):c.994C>G (p.Pro332Ala) rs104894545
NM_001614.5(ACTG1):c.996C>A (p.Pro332=) rs200089021
NM_001614.5(ACTG1):c.99C>T (p.Ser33=)
NM_001614.5(ACTG1):c.9A>G (p.Glu3=)
NM_005219.4(DIAPH1):c.3439-3del rs1335130331
NM_005219.5(DIAPH1):c.1000A>C (p.Ile334Leu)
NM_005219.5(DIAPH1):c.1002C>G (p.Ile334Met) rs748386464
NM_005219.5(DIAPH1):c.1002C>T (p.Ile334=) rs748386464
NM_005219.5(DIAPH1):c.1004G>T (p.Arg335Ile) rs2099896282
NM_005219.5(DIAPH1):c.1007G>A (p.Ser336Asn)
NM_005219.5(DIAPH1):c.100G>A (p.Gly34Ser)
NM_005219.5(DIAPH1):c.1016del (p.Met339fs) rs2154596448
NM_005219.5(DIAPH1):c.1018C>G (p.Arg340Gly)
NM_005219.5(DIAPH1):c.1018C>T (p.Arg340Cys) rs754730261
NM_005219.5(DIAPH1):c.1021T>C (p.Leu341=)
NM_005219.5(DIAPH1):c.1026G>C (p.Gly342=) rs1479604388
NM_005219.5(DIAPH1):c.1034A>G (p.Gln345Arg)
NM_005219.5(DIAPH1):c.1044+11_1044+16del
NM_005219.5(DIAPH1):c.1044+14C>T
NM_005219.5(DIAPH1):c.1044+1G>A
NM_005219.5(DIAPH1):c.1044+6A>G
NM_005219.5(DIAPH1):c.1044+7T>A
NM_005219.5(DIAPH1):c.1044+8A>G
NM_005219.5(DIAPH1):c.1044+9T>G
NM_005219.5(DIAPH1):c.1045-9T>G rs2154596439
NM_005219.5(DIAPH1):c.104A>G (p.Lys35Arg)
NM_005219.5(DIAPH1):c.1051C>A (p.Arg351=)
NM_005219.5(DIAPH1):c.1051C>T (p.Arg351Ter)
NM_005219.5(DIAPH1):c.1052G>A (p.Arg351Gln)
NM_005219.5(DIAPH1):c.1055A>G (p.Glu352Gly) rs779820289
NM_005219.5(DIAPH1):c.1065T>C (p.Asn355=)
NM_005219.5(DIAPH1):c.1068A>G (p.Glu356=) rs2099896254
NM_005219.5(DIAPH1):c.1069G>C (p.Asp357His)
NM_005219.5(DIAPH1):c.1076G>T (p.Arg359Ile)
NM_005219.5(DIAPH1):c.108dup (p.Lys37Ter) rs2154597562
NM_005219.5(DIAPH1):c.1095T>C (p.Phe365=)
NM_005219.5(DIAPH1):c.1096G>C (p.Asp366His)
NM_005219.5(DIAPH1):c.1118C>T (p.Ser373Phe)
NM_005219.5(DIAPH1):c.1121A>G (p.Tyr374Cys)
NM_005219.5(DIAPH1):c.1123G>T (p.Asp375Tyr)
NM_005219.5(DIAPH1):c.1126C>T (p.Leu376=) rs141629026
NM_005219.5(DIAPH1):c.1130A>G (p.Lys377Arg)
NM_005219.5(DIAPH1):c.1137_1138delinsTT (p.Arg379_Leu380=) rs2154596434
NM_005219.5(DIAPH1):c.1149T>G (p.Ile383Met)
NM_005219.5(DIAPH1):c.114A>G (p.Lys38=) rs2154597561
NM_005219.5(DIAPH1):c.1150C>T (p.Arg384Cys)
NM_005219.5(DIAPH1):c.1151G>A (p.Arg384His) rs200927557
NM_005219.5(DIAPH1):c.1151G>T (p.Arg384Leu) rs200927557
NM_005219.5(DIAPH1):c.1154T>C (p.Met385Thr)
NM_005219.5(DIAPH1):c.1163+14dup
NM_005219.5(DIAPH1):c.1163+6C>A
NM_005219.5(DIAPH1):c.1163+8T>C
NM_005219.5(DIAPH1):c.1164-3C>A rs2154596419
NM_005219.5(DIAPH1):c.1164-4C>T
NM_005219.5(DIAPH1):c.1164-9C>A
NM_005219.5(DIAPH1):c.1164-9C>G
NM_005219.5(DIAPH1):c.1164T>C (p.Asp388=)
NM_005219.5(DIAPH1):c.1167C>T (p.Asp389=) rs759576935
NM_005219.5(DIAPH1):c.116T>C (p.Phe39Ser) rs2154597560
NM_005219.5(DIAPH1):c.117+12T>A
NM_005219.5(DIAPH1):c.117+12_117+15del
NM_005219.5(DIAPH1):c.117+13C>T
NM_005219.5(DIAPH1):c.117+18C>T
NM_005219.5(DIAPH1):c.117+19C>A
NM_005219.5(DIAPH1):c.117+19C>T
NM_005219.5(DIAPH1):c.117+20C>G
NM_005219.5(DIAPH1):c.117+3G>A
NM_005219.5(DIAPH1):c.117+9C>G
NM_005219.5(DIAPH1):c.1173T>C (p.Asn391=)
NM_005219.5(DIAPH1):c.1177G>A (p.Val393Ile)
NM_005219.5(DIAPH1):c.117T>C (p.Phe39=)
NM_005219.5(DIAPH1):c.118-18C>G
NM_005219.5(DIAPH1):c.118-18C>T rs2099897844
NM_005219.5(DIAPH1):c.118-5C>G
NM_005219.5(DIAPH1):c.118-9G>A rs1346309649
NM_005219.5(DIAPH1):c.1182T>C (p.Phe394=)
NM_005219.5(DIAPH1):c.1191C>G (p.Leu397=)
NM_005219.5(DIAPH1):c.1194A>G (p.Leu398=)
NM_005219.5(DIAPH1):c.119C>T (p.Thr40Ile) rs1437971317
NM_005219.5(DIAPH1):c.1205A>G (p.Lys402Arg)
NM_005219.5(DIAPH1):c.120T>A (p.Thr40=)
NM_005219.5(DIAPH1):c.1211C>T (p.Ser404Leu)
NM_005219.5(DIAPH1):c.1212A>G (p.Ser404=) rs749220748
NM_005219.5(DIAPH1):c.121C>T (p.Leu41=)
NM_005219.5(DIAPH1):c.1220A>G (p.Glu407Gly)
NM_005219.5(DIAPH1):c.1230C>A (p.Phe410Leu)
NM_005219.5(DIAPH1):c.1230C>T (p.Phe410=)
NM_005219.5(DIAPH1):c.1236C>A (p.Ser412=)
NM_005219.5(DIAPH1):c.1253T>A (p.Leu418His)
NM_005219.5(DIAPH1):c.1258G>A (p.Val420Ile) rs2099896137
NM_005219.5(DIAPH1):c.1262G>T (p.Arg421Leu)
NM_005219.5(DIAPH1):c.1265A>T (p.Asn422Ile)
NM_005219.5(DIAPH1):c.1268A>C (p.Asp423Ala)
NM_005219.5(DIAPH1):c.1280+14C>T
NM_005219.5(DIAPH1):c.1280+15T>C rs2154596414
NM_005219.5(DIAPH1):c.1280+2T>G rs2154596416
NM_005219.5(DIAPH1):c.1280+3A>G rs747583916
NM_005219.5(DIAPH1):c.1280+7T>C rs2154596415
NM_005219.5(DIAPH1):c.1280+8G>A
NM_005219.5(DIAPH1):c.1281-13T>C
NM_005219.5(DIAPH1):c.1281-3T>C
NM_005219.5(DIAPH1):c.1281-6T>C
NM_005219.5(DIAPH1):c.1283C>A (p.Pro428His)
NM_005219.5(DIAPH1):c.1287G>A (p.Gln429=) rs748159908
NM_005219.5(DIAPH1):c.1292A>G (p.Tyr431Cys)
NM_005219.5(DIAPH1):c.12C>T (p.Pro4=)
NM_005219.5(DIAPH1):c.1308A>G (p.Glu436=)
NM_005219.5(DIAPH1):c.1310G>A (p.Cys437Tyr) rs2099896035
NM_005219.5(DIAPH1):c.1311T>C (p.Cys437=)
NM_005219.5(DIAPH1):c.1319A>G (p.Gln440Arg)
NM_005219.5(DIAPH1):c.1327C>G (p.Leu443Val)
NM_005219.5(DIAPH1):c.132C>T (p.Leu44=)
NM_005219.5(DIAPH1):c.1341G>A (p.Gly447=)
NM_005219.5(DIAPH1):c.1343C>T (p.Ala448Val)
NM_005219.5(DIAPH1):c.1348C>A (p.Pro450Thr) rs1263533400
NM_005219.5(DIAPH1):c.1348C>G (p.Pro450Ala)
NM_005219.5(DIAPH1):c.1358A>G (p.Lys453Arg) rs368435886
NM_005219.5(DIAPH1):c.1359G>A (p.Lys453=) rs764490603
NM_005219.5(DIAPH1):c.1368C>T (p.His456=)
NM_005219.5(DIAPH1):c.1369C>T (p.Leu457Phe)
NM_005219.5(DIAPH1):c.1371C>T (p.Leu457=)
NM_005219.5(DIAPH1):c.1376T>C (p.Ile459Thr)
NM_005219.5(DIAPH1):c.1377T>A (p.Ile459=) rs1454630812
NM_005219.5(DIAPH1):c.1381A>G (p.Ile461Val)
NM_005219.5(DIAPH1):c.1382T>C (p.Ile461Thr)
NM_005219.5(DIAPH1):c.1386G>A (p.Glu462=)
NM_005219.5(DIAPH1):c.1394T>C (p.Ile465Thr)
NM_005219.5(DIAPH1):c.1396+11T>C
NM_005219.5(DIAPH1):c.1396+15C>G
NM_005219.5(DIAPH1):c.1396+7A>G
NM_005219.5(DIAPH1):c.1396+9A>G rs763317731
NM_005219.5(DIAPH1):c.1397-13T>C rs1347799875
NM_005219.5(DIAPH1):c.1397-14CTT[2] rs771642064
NM_005219.5(DIAPH1):c.1397-22_1397-19del
NM_005219.5(DIAPH1):c.1397-3C>T rs2154596393
NM_005219.5(DIAPH1):c.1397-9T>C
NM_005219.5(DIAPH1):c.139G>C (p.Asp47His) rs2154596729
NM_005219.5(DIAPH1):c.13G>A (p.Gly5Ser) rs2154597569
NM_005219.5(DIAPH1):c.1406T>C (p.Ile469Thr) rs2154596392
NM_005219.5(DIAPH1):c.1409A>G (p.Asp470Gly) rs1596381822
NM_005219.5(DIAPH1):c.140A>T (p.Asp47Val)
NM_005219.5(DIAPH1):c.1417A>G (p.Lys473Glu)
NM_005219.5(DIAPH1):c.1420G>A (p.Val474Met)
NM_005219.5(DIAPH1):c.1420_1421delinsAG (p.Val474Arg) rs2154596391
NM_005219.5(DIAPH1):c.1439A>C (p.Lys480Thr)
NM_005219.5(DIAPH1):c.1439A>G (p.Lys480Arg) rs547070097
NM_005219.5(DIAPH1):c.144+11T>C
NM_005219.5(DIAPH1):c.144+14G>A rs779974546
NM_005219.5(DIAPH1):c.144+18A>G
NM_005219.5(DIAPH1):c.144+20C>T
NM_005219.5(DIAPH1):c.144+2T>G
NM_005219.5(DIAPH1):c.144+5G>C
NM_005219.5(DIAPH1):c.145-12dup rs1311979036
NM_005219.5(DIAPH1):c.145-13T>G
NM_005219.5(DIAPH1):c.145-14T>C
NM_005219.5(DIAPH1):c.145-17T>C
NM_005219.5(DIAPH1):c.145-17T>G
NM_005219.5(DIAPH1):c.145-20T>A
NM_005219.5(DIAPH1):c.145-20T>C
NM_005219.5(DIAPH1):c.145-5C>A rs1596392507
NM_005219.5(DIAPH1):c.1450C>G (p.Leu484Val)
NM_005219.5(DIAPH1):c.1450C>T (p.Leu484=)
NM_005219.5(DIAPH1):c.1461+10A>G
NM_005219.5(DIAPH1):c.1461+16C>G
NM_005219.5(DIAPH1):c.1461+19_1461+20delinsGA rs2154596389
NM_005219.5(DIAPH1):c.1461+20_1461+21delinsAG rs2154596388
NM_005219.5(DIAPH1):c.1461+6T>C
NM_005219.5(DIAPH1):c.1461+8T>G
NM_005219.5(DIAPH1):c.1462-15dup rs777822030
NM_005219.5(DIAPH1):c.1462-19T>G rs2154596349
NM_005219.5(DIAPH1):c.1462-7dup rs1289998659
NM_005219.5(DIAPH1):c.1468T>C (p.Ser490Pro) rs2154596348
NM_005219.5(DIAPH1):c.1476A>G (p.Leu492=)
NM_005219.5(DIAPH1):c.1476A>T (p.Leu492Phe)
NM_005219.5(DIAPH1):c.147G>A (p.Leu49=)
NM_005219.5(DIAPH1):c.1480G>T (p.Ala494Ser) rs2099895764
NM_005219.5(DIAPH1):c.1483C>T (p.Arg495Ter)
NM_005219.5(DIAPH1):c.1488T>C (p.His496=) rs2154596345
NM_005219.5(DIAPH1):c.1494A>G (p.Leu498=)
NM_005219.5(DIAPH1):c.1496A>G (p.Gln499Arg)
NM_005219.5(DIAPH1):c.1498G>A (p.Val500Met) rs1393807954
NM_005219.5(DIAPH1):c.1501G>A (p.Glu501Lys)
NM_005219.5(DIAPH1):c.1509A>G (p.Lys503=) rs763833539
NM_005219.5(DIAPH1):c.1513A>T (p.Met505Leu)
NM_005219.5(DIAPH1):c.1517A>T (p.Glu506Val)
NM_005219.5(DIAPH1):c.1523A>G (p.Asp508Gly) rs373413837
NM_005219.5(DIAPH1):c.1524C>G (p.Asp508Glu)
NM_005219.5(DIAPH1):c.152G>C (p.Arg51Thr) rs2099897675
NM_005219.5(DIAPH1):c.1530G>A (p.Glu510=)
NM_005219.5(DIAPH1):c.1535A>G (p.Lys512Arg)
NM_005219.5(DIAPH1):c.1539T>G (p.Leu513=)
NM_005219.5(DIAPH1):c.1553G>C (p.Gly518Ala)
NM_005219.5(DIAPH1):c.1557A>G (p.Glu519=)
NM_005219.5(DIAPH1):c.1559A>G (p.Lys520Arg)
NM_005219.5(DIAPH1):c.1563T>C (p.Asp521=)
NM_005219.5(DIAPH1):c.1567C>T (p.Leu523=)
NM_005219.5(DIAPH1):c.1569G>A (p.Leu523=)
NM_005219.5(DIAPH1):c.1570C>T (p.His524Tyr) rs1453865659
NM_005219.5(DIAPH1):c.158C>T (p.Thr53Ile)
NM_005219.5(DIAPH1):c.1590T>C (p.Ile530=) rs768960181
NM_005219.5(DIAPH1):c.1595C>T (p.Thr532Ile) rs1446595487
NM_005219.5(DIAPH1):c.1599G>A (p.Glu533=)
NM_005219.5(DIAPH1):c.1606G>A (p.Asp536Asn) rs377104351
NM_005219.5(DIAPH1):c.1606G>T (p.Asp536Tyr) rs377104351
NM_005219.5(DIAPH1):c.1609C>T (p.Leu537=)
NM_005219.5(DIAPH1):c.1609del (p.Leu537fs)
NM_005219.5(DIAPH1):c.1613A>C (p.Glu538Ala) rs2154596341
NM_005219.5(DIAPH1):c.1617A>G (p.Ala539=)
NM_005219.5(DIAPH1):c.1630C>T (p.Leu544Phe)
NM_005219.5(DIAPH1):c.1634C>T (p.Thr545Ile)
NM_005219.5(DIAPH1):c.1636G>A (p.Gly546Arg)
NM_005219.5(DIAPH1):c.1637G>A (p.Gly546Glu)
NM_005219.5(DIAPH1):c.1639G>A (p.Glu547Lys)
NM_005219.5(DIAPH1):c.1639G>C (p.Glu547Gln) rs1317819365
NM_005219.5(DIAPH1):c.1641+13C>T
NM_005219.5(DIAPH1):c.1641+14A>C
NM_005219.5(DIAPH1):c.1641+16G>A
NM_005219.5(DIAPH1):c.1641+7C>T rs1284880934
NM_005219.5(DIAPH1):c.1641+9T>C
NM_005219.5(DIAPH1):c.1641G>A (p.Glu547=) rs2099895745
NM_005219.5(DIAPH1):c.1642-14T>C
NM_005219.5(DIAPH1):c.1642-15A>G
NM_005219.5(DIAPH1):c.1642-19A>G
NM_005219.5(DIAPH1):c.1642-20C>T
NM_005219.5(DIAPH1):c.1642-9T>C rs1291801608
NM_005219.5(DIAPH1):c.1642G>A (p.Val548Ile)
NM_005219.5(DIAPH1):c.1644T>A (p.Val548=)
NM_005219.5(DIAPH1):c.1650G>A (p.Lys550=)
NM_005219.5(DIAPH1):c.1676A>G (p.Lys559Arg)
NM_005219.5(DIAPH1):c.1677G>T (p.Lys559Asn)
NM_005219.5(DIAPH1):c.1681G>A (p.Glu561Lys) rs2154596316
NM_005219.5(DIAPH1):c.1684A>T (p.Met562Leu)
NM_005219.5(DIAPH1):c.1689T>A (p.Ala563=)
NM_005219.5(DIAPH1):c.169A>G (p.Ile57Val) rs2099897673
NM_005219.5(DIAPH1):c.16G>A (p.Gly6Arg)
NM_005219.5(DIAPH1):c.1705G>A (p.Ala569Thr)
NM_005219.5(DIAPH1):c.1708A>G (p.Ile570Val) rs886042233
NM_005219.5(DIAPH1):c.1712C>G (p.Thr571Ser) rs1562321607
NM_005219.5(DIAPH1):c.1717C>A (p.Pro573Thr)
NM_005219.5(DIAPH1):c.1717CCT[1] (p.Pro574del)
NM_005219.5(DIAPH1):c.1726G>A (p.Val576Ile)
NM_005219.5(DIAPH1):c.1727T>C (p.Val576Ala)
NM_005219.5(DIAPH1):c.172AAG[1] (p.Lys59del)
NM_005219.5(DIAPH1):c.1734T>G (p.Ser578Arg)
NM_005219.5(DIAPH1):c.1735C>T (p.Arg579Cys)
NM_005219.5(DIAPH1):c.1737T>C (p.Arg579=)
NM_005219.5(DIAPH1):c.1737T>G (p.Arg579=)
NM_005219.5(DIAPH1):c.1741C>G (p.Pro581Ala)
NM_005219.5(DIAPH1):c.1742C>G (p.Pro581Arg)
NM_005219.5(DIAPH1):c.1755C>T (p.Ala585=) rs1470817454
NM_005219.5(DIAPH1):c.1756C>T (p.Pro586Ser)
NM_005219.5(DIAPH1):c.1757C>T (p.Pro586Leu) rs2099895599
NM_005219.5(DIAPH1):c.1762T>A (p.Leu588Ile)
NM_005219.5(DIAPH1):c.1766C>T (p.Pro589Leu) rs953769579
NM_005219.5(DIAPH1):c.1768G>A (p.Gly590Ser)
NM_005219.5(DIAPH1):c.1769G>A (p.Gly590Asp) rs189809247
NM_005219.5(DIAPH1):c.1769G>C (p.Gly590Ala)
NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val) rs189809247
NM_005219.5(DIAPH1):c.1779C>T (p.Gly593=)
NM_005219.5(DIAPH1):c.1781C>A (p.Thr594Asn)
NM_005219.5(DIAPH1):c.1781C>T (p.Thr594Ile) rs1562321356
NM_005219.5(DIAPH1):c.1783A>G (p.Ile595Val)
NM_005219.5(DIAPH1):c.1784T>G (p.Ile595Ser)
NM_005219.5(DIAPH1):c.1787T>C (p.Ile596Thr)
NM_005219.5(DIAPH1):c.1788T>C (p.Ile596=)
NM_005219.5(DIAPH1):c.1791ACC[1] (p.Pro599_Pro600del) rs1285003139
NM_005219.5(DIAPH1):c.1795C>A (p.Pro599Thr)
NM_005219.5(DIAPH1):c.1802C>G (p.Ala601Gly)
NM_005219.5(DIAPH1):c.1805C>T (p.Pro602Leu)
NM_005219.5(DIAPH1):c.1806T>G (p.Pro602=) rs2154596309
NM_005219.5(DIAPH1):c.1808G>C (p.Gly603Ala) rs779887319
NM_005219.5(DIAPH1):c.1815T>C (p.Ser605=)
NM_005219.5(DIAPH1):c.1820C>A (p.Thr607Asn)
NM_005219.5(DIAPH1):c.1820C>T (p.Thr607Ile) rs2099895593
NM_005219.5(DIAPH1):c.1821T>G (p.Thr607=) rs2154596306
NM_005219.5(DIAPH1):c.1821TCC[10] (p.Pro620del) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[12] (p.Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[13] (p.Pro619_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[14] (p.Pro618_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[15] (p.Pro617_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[16] (p.Pro616_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[17] (p.Pro615_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[18] (p.Pro614_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[6] (p.Pro616_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[7] (p.Pro617_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[8] (p.Pro618_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[9] (p.Pro619_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.1822C>G (p.Pro608Ala) rs749881969
NM_005219.5(DIAPH1):c.1823C>T (p.Pro608Leu)
NM_005219.5(DIAPH1):c.1826C>T (p.Pro609Leu)
NM_005219.5(DIAPH1):c.1830T>C (p.Pro610=)
NM_005219.5(DIAPH1):c.1835C>T (p.Pro612Leu) rs1421185830
NM_005219.5(DIAPH1):c.1836_1837insTCTCCT (p.Pro612_Pro613insSerPro)
NM_005219.5(DIAPH1):c.1838C>G (p.Pro613Arg)
NM_005219.5(DIAPH1):c.1838C>T (p.Pro613Leu)
NM_005219.5(DIAPH1):c.183G>A (p.Lys61=)
NM_005219.5(DIAPH1):c.1840_1860dup (p.Pro620_Leu621insProProProProProProPro)
NM_005219.5(DIAPH1):c.1841C>T (p.Pro614Leu)
NM_005219.5(DIAPH1):c.1842T>G (p.Pro614=) rs71583653
NM_005219.5(DIAPH1):c.1843C>T (p.Pro615Ser)
NM_005219.5(DIAPH1):c.1846C>T (p.Pro616Ser)
NM_005219.5(DIAPH1):c.1848_1862del (p.Pro618_Pro622del) rs1562320961
NM_005219.5(DIAPH1):c.1849C>T (p.Pro617Ser)
NM_005219.5(DIAPH1):c.1852C>A (p.Pro618Thr)
NM_005219.5(DIAPH1):c.1852C>T (p.Pro618Ser)
NM_005219.5(DIAPH1):c.1852_1860dup (p.Pro618_Pro620dup) rs1562320985
NM_005219.5(DIAPH1):c.1854A>T (p.Pro618=) rs374236039
NM_005219.5(DIAPH1):c.1854_1856dup (p.Pro620dup) rs2099895584
NM_005219.5(DIAPH1):c.1854_1859dup (p.Pro619_Pro620dup) rs773918503
NM_005219.5(DIAPH1):c.1856C>T (p.Pro619Leu) rs2154596301
NM_005219.5(DIAPH1):c.1859C>A (p.Pro620His) rs774876990
NM_005219.5(DIAPH1):c.1859C>T (p.Pro620Leu) rs774876990
NM_005219.5(DIAPH1):c.1859_1860insCCCTCC (p.Pro620_Leu621insProPro)
NM_005219.5(DIAPH1):c.1861T>G (p.Leu621Val)
NM_005219.5(DIAPH1):c.1871G>A (p.Gly624Asp)
NM_005219.5(DIAPH1):c.1874T>C (p.Val625Ala)
NM_005219.5(DIAPH1):c.1879A>G (p.Ile627Val)
NM_005219.5(DIAPH1):c.1881C>T (p.Ile627=)
NM_005219.5(DIAPH1):c.1888C>A (p.Pro630Thr)
NM_005219.5(DIAPH1):c.1891C>A (p.Pro631Thr)
NM_005219.5(DIAPH1):c.1891C>T (p.Pro631Ser)
NM_005219.5(DIAPH1):c.1892CTT[1] (p.Ser632del) rs1361907715
NM_005219.5(DIAPH1):c.1894T>C (p.Ser632Pro)
NM_005219.5(DIAPH1):c.189G>A (p.Lys63=) rs762043047
NM_005219.5(DIAPH1):c.189G>T (p.Lys63Asn)
NM_005219.5(DIAPH1):c.1901C>G (p.Pro634Arg)
NM_005219.5(DIAPH1):c.1908T>C (p.Gly636=)
NM_005219.5(DIAPH1):c.1910C>A (p.Thr637Asn)
NM_005219.5(DIAPH1):c.1913C>G (p.Ala638Gly)
NM_005219.5(DIAPH1):c.1915A>G (p.Ile639Val) rs781398463
NM_005219.5(DIAPH1):c.1916T>C (p.Ile639Thr)
NM_005219.5(DIAPH1):c.1919C>G (p.Ser640Cys)
NM_005219.5(DIAPH1):c.1925C>T (p.Pro642Leu) rs2099895573
NM_005219.5(DIAPH1):c.1926C>T (p.Pro642=) rs1044362474
NM_005219.5(DIAPH1):c.1927C>A (p.Pro643Thr) rs768458531
NM_005219.5(DIAPH1):c.1927C>G (p.Pro643Ala)
NM_005219.5(DIAPH1):c.1927C>T (p.Pro643Ser) rs768458531
NM_005219.5(DIAPH1):c.1928C>A (p.Pro643His)
NM_005219.5(DIAPH1):c.1935G>A (p.Leu645=) rs2099895570
NM_005219.5(DIAPH1):c.1936_1971del (p.Ser646_Leu657del)
NM_005219.5(DIAPH1):c.193A>G (p.Asn65Asp)
NM_005219.5(DIAPH1):c.1943A>G (p.Asp648Gly) rs886060032
NM_005219.5(DIAPH1):c.1947T>C (p.Ala649=)
NM_005219.5(DIAPH1):c.1952T>A (p.Ile651Asn)
NM_005219.5(DIAPH1):c.1955C>T (p.Pro652Leu)
NM_005219.5(DIAPH1):c.1960C>T (p.Pro654Ser) rs931286798
NM_005219.5(DIAPH1):c.1961C>A (p.Pro654His)
NM_005219.5(DIAPH1):c.1962C>G (p.Pro654=)
NM_005219.5(DIAPH1):c.1963C>G (p.Pro655Ala) rs201827139
NM_005219.5(DIAPH1):c.1964C>A (p.Pro655His) rs367669306
NM_005219.5(DIAPH1):c.1967C>T (p.Pro656Leu)
NM_005219.5(DIAPH1):c.1978G>A (p.Gly660Ser)
NM_005219.5(DIAPH1):c.1978G>T (p.Gly660Cys)
NM_005219.5(DIAPH1):c.197C>G (p.Ser66Cys) rs1414699859
NM_005219.5(DIAPH1):c.198T>A (p.Ser66=)
NM_005219.5(DIAPH1):c.2000CTT[1] (p.Ser668del) rs1323222030
NM_005219.5(DIAPH1):c.2003C>T (p.Ser668Phe)
NM_005219.5(DIAPH1):c.2005T>C (p.Leu669=) rs1554208002
NM_005219.5(DIAPH1):c.2007G>A (p.Leu669=)
NM_005219.5(DIAPH1):c.2007G>T (p.Leu669Phe) rs1284785470
NM_005219.5(DIAPH1):c.2010T>C (p.Pro670=) rs2154596297
NM_005219.5(DIAPH1):c.2013_2048dup (p.Gly672_Gly683dup) rs2154596291
NM_005219.5(DIAPH1):c.2015G>A (p.Gly672Asp)
NM_005219.5(DIAPH1):c.2015G>T (p.Gly672Val)
NM_005219.5(DIAPH1):c.2017A>G (p.Thr673Ala)
NM_005219.5(DIAPH1):c.2018C>T (p.Thr673Ile) rs13174988
NM_005219.5(DIAPH1):c.2023A>G (p.Ile675Val) rs1596378879
NM_005219.5(DIAPH1):c.2024T>C (p.Ile675Thr) rs2154596293
NM_005219.5(DIAPH1):c.2025C>A (p.Ile675=)
NM_005219.5(DIAPH1):c.2025C>G (p.Ile675Met) rs557522528
NM_005219.5(DIAPH1):c.2026C>T (p.Pro676Ser) rs1160456432
NM_005219.5(DIAPH1):c.2028C>T (p.Pro676=) rs769801420
NM_005219.5(DIAPH1):c.2028_2030del (p.Pro680del)
NM_005219.5(DIAPH1):c.2030C>A (p.Pro677Gln) rs761912885
NM_005219.5(DIAPH1):c.2030C>G (p.Pro677Arg)
NM_005219.5(DIAPH1):c.2030C>T (p.Pro677Leu) rs761912885
NM_005219.5(DIAPH1):c.2034_2072del (p.Arg686_Ala698del)
NM_005219.5(DIAPH1):c.2036C>G (p.Pro679Arg)
NM_005219.5(DIAPH1):c.2039C>G (p.Pro680Arg)
NM_005219.5(DIAPH1):c.203A>G (p.His68Arg)
NM_005219.5(DIAPH1):c.2050A>T (p.Ser684Cys) rs2154596289
NM_005219.5(DIAPH1):c.2056A>G (p.Arg686Gly)
NM_005219.5(DIAPH1):c.2056_2094del (p.Arg686_Ala698del) rs768124450
NM_005219.5(DIAPH1):c.2057G>T (p.Arg686Ile)
NM_005219.5(DIAPH1):c.2061C>G (p.Ile687Met) rs1436744741
NM_005219.5(DIAPH1):c.2061C>T (p.Ile687=)
NM_005219.5(DIAPH1):c.2064C>A (p.Pro688=)
NM_005219.5(DIAPH1):c.2066C>G (p.Pro689Arg) rs1233431834
NM_005219.5(DIAPH1):c.2067_2105del (p.Ser697_Gly709del) rs746438941
NM_005219.5(DIAPH1):c.2068C>T (p.Pro690Ser)
NM_005219.5(DIAPH1):c.206G>C (p.Arg69Thr) rs1356506474
NM_005219.5(DIAPH1):c.2071C>T (p.Pro691Ser) rs1334098898
NM_005219.5(DIAPH1):c.2075C>G (p.Pro692Arg)
NM_005219.5(DIAPH1):c.2091T>A (p.Ser697Arg)
NM_005219.5(DIAPH1):c.2092G>A (p.Ala698Thr)
NM_005219.5(DIAPH1):c.2094T>A (p.Ala698=) rs1184461104
NM_005219.5(DIAPH1):c.2099T>A (p.Ile700Asn) rs199830182
NM_005219.5(DIAPH1):c.2099T>C (p.Ile700Thr) rs199830182
NM_005219.5(DIAPH1):c.2100dup (p.Pro701fs) rs2154596284
NM_005219.5(DIAPH1):c.2101C>A (p.Pro701Thr) rs576129553
NM_005219.5(DIAPH1):c.2101C>T (p.Pro701Ser) rs576129553
NM_005219.5(DIAPH1):c.2103C>A (p.Pro701=)
NM_005219.5(DIAPH1):c.2103C>T (p.Pro701=)
NM_005219.5(DIAPH1):c.2106C>A (p.Pro702=)
NM_005219.5(DIAPH1):c.2106C>T (p.Pro702=)
NM_005219.5(DIAPH1):c.2108C>A (p.Pro703Gln)
NM_005219.5(DIAPH1):c.2108C>G (p.Pro703Arg) rs762356974
NM_005219.5(DIAPH1):c.2108C>T (p.Pro703Leu) rs762356974
NM_005219.5(DIAPH1):c.2108del (p.Pro703fs)
NM_005219.5(DIAPH1):c.2108dup (p.Pro704fs) rs771360300
NM_005219.5(DIAPH1):c.211T>C (p.Ser71Pro)
NM_005219.5(DIAPH1):c.2132C>T (p.Ala711Val)
NM_005219.5(DIAPH1):c.2133A>G (p.Ala711=) rs2154596282
NM_005219.5(DIAPH1):c.2135G>A (p.Gly712Glu)
NM_005219.5(DIAPH1):c.2139_2150dup (p.Pro719_Leu720insProProProPro)
NM_005219.5(DIAPH1):c.2143C>G (p.Pro715Ala)
NM_005219.5(DIAPH1):c.2144C>G (p.Pro715Arg)
NM_005219.5(DIAPH1):c.2145TCC[2] (p.Pro719del)
NM_005219.5(DIAPH1):c.2147C>T (p.Pro716Leu)
NM_005219.5(DIAPH1):c.2149C>T (p.Pro717Ser) rs2099895535
NM_005219.5(DIAPH1):c.2153C>T (p.Pro718Leu)
NM_005219.5(DIAPH1):c.2156C>G (p.Pro719Arg) rs770966255
NM_005219.5(DIAPH1):c.2162C>A (p.Pro721His) rs373520931
NM_005219.5(DIAPH1):c.2162C>G (p.Pro721Arg)
NM_005219.5(DIAPH1):c.2167G>A (p.Gly723Ser) rs1219615963
NM_005219.5(DIAPH1):c.2172T>C (p.Pro724=)
NM_005219.5(DIAPH1):c.2174G>C (p.Gly725Ala)
NM_005219.5(DIAPH1):c.2175A>G (p.Gly725=)
NM_005219.5(DIAPH1):c.2178C>T (p.Ile726=)
NM_005219.5(DIAPH1):c.2180C>T (p.Pro727Leu)
NM_005219.5(DIAPH1):c.2182C>T (p.Pro728Ser)
NM_005219.5(DIAPH1):c.2183C>T (p.Pro728Leu) rs2154596280
NM_005219.5(DIAPH1):c.2186C>T (p.Pro729Leu)
NM_005219.5(DIAPH1):c.2189C>T (p.Pro730Leu) rs2154596279
NM_005219.5(DIAPH1):c.218C>T (p.Ala73Val) rs2154596692
NM_005219.5(DIAPH1):c.2197C>T (p.Pro733Ser)
NM_005219.5(DIAPH1):c.2198C>G (p.Pro733Arg)
NM_005219.5(DIAPH1):c.219A>G (p.Ala73=)
NM_005219.5(DIAPH1):c.21C>G (p.Ser7Arg)
NM_005219.5(DIAPH1):c.2208T>C (p.Pro736=) rs2154596274
NM_005219.5(DIAPH1):c.2209G>A (p.Gly737Ser)
NM_005219.5(DIAPH1):c.2216C>T (p.Pro739Leu)
NM_005219.5(DIAPH1):c.2217T>G (p.Pro739=) rs2099895526
NM_005219.5(DIAPH1):c.221C>T (p.Ser74Leu)
NM_005219.5(DIAPH1):c.2221C>T (p.Pro741Ser)
NM_005219.5(DIAPH1):c.2222C>T (p.Pro741Leu)
NM_005219.5(DIAPH1):c.2229C>G (p.Pro743=) rs1361779351
NM_005219.5(DIAPH1):c.2230G>A (p.Gly744Arg)
NM_005219.5(DIAPH1):c.2233A>G (p.Met745Val)
NM_005219.5(DIAPH1):c.2236G>T (p.Gly746Cys) rs1258812442
NM_005219.5(DIAPH1):c.2237G>A (p.Gly746Asp) rs1267697203
NM_005219.5(DIAPH1):c.2239A>G (p.Met747Val) rs750444590
NM_005219.5(DIAPH1):c.2242C>A (p.Pro748Thr) rs760810515
NM_005219.5(DIAPH1):c.2243C>T (p.Pro748Leu)
NM_005219.5(DIAPH1):c.2254C>G (p.Pro752Ala)
NM_005219.5(DIAPH1):c.2255C>A (p.Pro752Gln)
NM_005219.5(DIAPH1):c.2256A>G (p.Pro752=)
NM_005219.5(DIAPH1):c.2256A>T (p.Pro752=) rs1230613557
NM_005219.5(DIAPH1):c.2263T>C (p.Phe755Leu)
NM_005219.5(DIAPH1):c.2267G>C (p.Gly756Ala) rs1423322662
NM_005219.5(DIAPH1):c.2274T>G (p.Pro758=)
NM_005219.5(DIAPH1):c.2282C>T (p.Pro761Leu) rs1382690018
NM_005219.5(DIAPH1):c.2287C>G (p.Leu763Val)
NM_005219.5(DIAPH1):c.228G>A (p.Gly76=)
NM_005219.5(DIAPH1):c.22C>T (p.Leu8=) rs371690742
NM_005219.5(DIAPH1):c.2303C>T (p.Thr768Ile)
NM_005219.5(DIAPH1):c.2306C>G (p.Pro769Arg)
NM_005219.5(DIAPH1):c.2309A>G (p.Lys770Arg) rs2154596262
NM_005219.5(DIAPH1):c.2312A>C (p.Lys771Thr)
NM_005219.5(DIAPH1):c.2329G>T (p.Val777Leu)
NM_005219.5(DIAPH1):c.2330T>C (p.Val777Ala) rs2154596261
NM_005219.5(DIAPH1):c.2333A>C (p.Gln778Pro)
NM_005219.5(DIAPH1):c.2333A>G (p.Gln778Arg) rs369255077
NM_005219.5(DIAPH1):c.2337C>T (p.Leu779=) rs757635140
NM_005219.5(DIAPH1):c.233A>G (p.Asp78Gly)
NM_005219.5(DIAPH1):c.2347A>G (p.Asn783Asp) rs778373397
NM_005219.5(DIAPH1):c.2350_2351dup (p.Trp784fs)
NM_005219.5(DIAPH1):c.2358+13_2358+16del
NM_005219.5(DIAPH1):c.2358+20_2358+23del
NM_005219.5(DIAPH1):c.2358+6del
NM_005219.5(DIAPH1):c.2358+7G>C rs2154596259
NM_005219.5(DIAPH1):c.2359-13C>T
NM_005219.5(DIAPH1):c.2359-14G>A
NM_005219.5(DIAPH1):c.2359-14G>T
NM_005219.5(DIAPH1):c.2359-15T>C
NM_005219.5(DIAPH1):c.2359-16C>T rs2154596206
NM_005219.5(DIAPH1):c.2359-18C>G rs779689345
NM_005219.5(DIAPH1):c.2359-20del rs2154596207
NM_005219.5(DIAPH1):c.2359-5C>G
NM_005219.5(DIAPH1):c.2359-9T>A rs2154596205
NM_005219.5(DIAPH1):c.2365G>A (p.Ala789Thr) rs1596376794
NM_005219.5(DIAPH1):c.2365G>T (p.Ala789Ser) rs1596376794
NM_005219.5(DIAPH1):c.2367T>G (p.Ala789=)
NM_005219.5(DIAPH1):c.2369A>T (p.Glu790Val) rs375471795
NM_005219.5(DIAPH1):c.2370G>A (p.Glu790=) rs2099895259
NM_005219.5(DIAPH1):c.2370G>T (p.Glu790Asp) rs2099895259
NM_005219.5(DIAPH1):c.2373C>T (p.Asp791=) rs756608855
NM_005219.5(DIAPH1):c.2374C>A (p.Leu792Ile)
NM_005219.5(DIAPH1):c.2401G>C (p.Val801Leu) rs1371798081
NM_005219.5(DIAPH1):c.2410G>A (p.Asp804Asn) rs2099895253
NM_005219.5(DIAPH1):c.2413C>T (p.Arg805Cys)
NM_005219.5(DIAPH1):c.2421G>A (p.Glu807=)
NM_005219.5(DIAPH1):c.2424C>T (p.Asn808=)
NM_005219.5(DIAPH1):c.2426A>G (p.Asn809Ser)
NM_005219.5(DIAPH1):c.242C>A (p.Ala81Glu)
NM_005219.5(DIAPH1):c.2433T>G (p.Leu811=) rs2154596203
NM_005219.5(DIAPH1):c.2439C>T (p.Ala813=)
NM_005219.5(DIAPH1):c.243A>C (p.Ala81=) rs2154596691
NM_005219.5(DIAPH1):c.2447C>A (p.Thr816Asn)
NM_005219.5(DIAPH1):c.2448C>G (p.Thr816=)
NM_005219.5(DIAPH1):c.2453C>A (p.Thr818Asn)
NM_005219.5(DIAPH1):c.2454C>T (p.Thr818=)
NM_005219.5(DIAPH1):c.2456T>C (p.Phe819Ser)
NM_005219.5(DIAPH1):c.2459C>T (p.Ser820Phe)
NM_005219.5(DIAPH1):c.2460T>G (p.Ser820=)
NM_005219.5(DIAPH1):c.2461G>A (p.Ala821Thr)
NM_005219.5(DIAPH1):c.2461G>T (p.Ala821Ser)
NM_005219.5(DIAPH1):c.2466G>T (p.Gln822His)
NM_005219.5(DIAPH1):c.2469C>T (p.Thr823=) rs763532123
NM_005219.5(DIAPH1):c.2470A>G (p.Lys824Glu) rs2154596200
NM_005219.5(DIAPH1):c.2473+18T>C rs781448970
NM_005219.5(DIAPH1):c.2473+3G>A
NM_005219.5(DIAPH1):c.2473+3G>C
NM_005219.5(DIAPH1):c.2473+8C>T
NM_005219.5(DIAPH1):c.2474-16C>T
NM_005219.5(DIAPH1):c.2474-20C>T
NM_005219.5(DIAPH1):c.2480A>C (p.Lys827Thr) rs2154596192
NM_005219.5(DIAPH1):c.2482+10C>T rs2154596191
NM_005219.5(DIAPH1):c.2482+17G>A
NM_005219.5(DIAPH1):c.2482+19C>T rs2099895163
NM_005219.5(DIAPH1):c.2482+4A>G
NM_005219.5(DIAPH1):c.2482+5G>A
NM_005219.5(DIAPH1):c.2483-10del
NM_005219.5(DIAPH1):c.2483-14C>A
NM_005219.5(DIAPH1):c.2483-17A>G rs1428058088
NM_005219.5(DIAPH1):c.2483-9C>G rs1183855995
NM_005219.5(DIAPH1):c.2487G>A (p.Lys829=) rs2154595134
NM_005219.5(DIAPH1):c.2488A>G (p.Lys830Glu)
NM_005219.5(DIAPH1):c.2492A>G (p.Asp831Gly)
NM_005219.5(DIAPH1):c.2493T>G (p.Asp831Glu)
NM_005219.5(DIAPH1):c.2495A>G (p.Gln832Arg)
NM_005219.5(DIAPH1):c.2502T>C (p.Gly834=) rs2099888712
NM_005219.5(DIAPH1):c.2507A>G (p.Glu836Gly)
NM_005219.5(DIAPH1):c.2511A>G (p.Glu837=)
NM_005219.5(DIAPH1):c.2514G>T (p.Lys838Asn) rs761209182
NM_005219.5(DIAPH1):c.2525A>G (p.Gln842Arg) rs200220260
NM_005219.5(DIAPH1):c.252G>A (p.Leu84=) rs2099897661
NM_005219.5(DIAPH1):c.253C>A (p.Gln85Lys) rs2154596689
NM_005219.5(DIAPH1):c.253C>G (p.Gln85Glu)
NM_005219.5(DIAPH1):c.2540_2541del (p.Lys847fs) rs2099888710
NM_005219.5(DIAPH1):c.2543A>G (p.Glu848Gly)
NM_005219.5(DIAPH1):c.2552T>C (p.Val851Ala)
NM_005219.5(DIAPH1):c.2553G>A (p.Val851=)
NM_005219.5(DIAPH1):c.2554T>C (p.Leu852=)
NM_005219.5(DIAPH1):c.255A>C (p.Gln85His)
NM_005219.5(DIAPH1):c.255A>G (p.Gln85=)
NM_005219.5(DIAPH1):c.2560T>G (p.Ser854Ala)
NM_005219.5(DIAPH1):c.256G>C (p.Asp86His)
NM_005219.5(DIAPH1):c.2577T>G (p.Asn859Lys) rs2099888705
NM_005219.5(DIAPH1):c.2581+12T>C
NM_005219.5(DIAPH1):c.2581+17C>T
NM_005219.5(DIAPH1):c.2582-11T>C
NM_005219.5(DIAPH1):c.2582-18T>C
NM_005219.5(DIAPH1):c.2582-7C>T
NM_005219.5(DIAPH1):c.2584A>G (p.Ile862Val)
NM_005219.5(DIAPH1):c.2585T>C (p.Ile862Thr)
NM_005219.5(DIAPH1):c.258T>C (p.Asp86=)
NM_005219.5(DIAPH1):c.2597C>A (p.Ser866Tyr)
NM_005219.5(DIAPH1):c.2597C>T (p.Ser866Phe) rs150113164
NM_005219.5(DIAPH1):c.2600T>A (p.Phe867Tyr)
NM_005219.5(DIAPH1):c.2602C>T (p.Arg868Cys) rs1554201531
NM_005219.5(DIAPH1):c.2604C>T (p.Arg868=)
NM_005219.5(DIAPH1):c.2605A>C (p.Met869Leu)
NM_005219.5(DIAPH1):c.2605A>G (p.Met869Val)
NM_005219.5(DIAPH1):c.2606T>C (p.Met869Thr)
NM_005219.5(DIAPH1):c.2608C>A (p.Pro870Thr)
NM_005219.5(DIAPH1):c.2609C>T (p.Pro870Leu)
NM_005219.5(DIAPH1):c.2612A>T (p.Tyr871Phe)
NM_005219.5(DIAPH1):c.2615A>G (p.Gln872Arg)
NM_005219.5(DIAPH1):c.2640G>A (p.Glu880=) rs2099887901
NM_005219.5(DIAPH1):c.2645A>T (p.Asn882Ile) rs750058263
NM_005219.5(DIAPH1):c.2649G>A (p.Glu883=) rs2154595020
NM_005219.5(DIAPH1):c.2650G>A (p.Ala884Thr) rs1214856083
NM_005219.5(DIAPH1):c.2651C>T (p.Ala884Val)
NM_005219.5(DIAPH1):c.2666C>T (p.Ser889Phe)
NM_005219.5(DIAPH1):c.2676+12G>C
NM_005219.5(DIAPH1):c.2676+13G>T
NM_005219.5(DIAPH1):c.2676+2T>G
NM_005219.5(DIAPH1):c.2676+8G>A rs2154595019
NM_005219.5(DIAPH1):c.2676G>A (p.Gln892=)
NM_005219.5(DIAPH1):c.2677-10T>G
NM_005219.5(DIAPH1):c.2677-11C>G
NM_005219.5(DIAPH1):c.2677-9_2677-6del rs2154595017
NM_005219.5(DIAPH1):c.2680C>T (p.Leu894Phe)
NM_005219.5(DIAPH1):c.2682C>T (p.Leu894=)
NM_005219.5(DIAPH1):c.2694G>A (p.Met898Ile) rs562824586
NM_005219.5(DIAPH1):c.2696C>T (p.Pro899Leu)
NM_005219.5(DIAPH1):c.2698G>C (p.Glu900Gln)
NM_005219.5(DIAPH1):c.2701C>G (p.Pro901Ala)
NM_005219.5(DIAPH1):c.2705A>G (p.Glu902Gly)
NM_005219.5(DIAPH1):c.2733G>A (p.Lys911=)
NM_005219.5(DIAPH1):c.2733G>T (p.Lys911Asn) rs767712795
NM_005219.5(DIAPH1):c.2746G>A (p.Asp916Asn)
NM_005219.5(DIAPH1):c.2748C>T (p.Asp916=)
NM_005219.5(DIAPH1):c.2751G>T (p.Leu917=)
NM_005219.5(DIAPH1):c.2757G>A (p.Glu919=)
NM_005219.5(DIAPH1):c.2758T>G (p.Ser920Ala)
NM_005219.5(DIAPH1):c.2771G>T (p.Gly924Val)
NM_005219.5(DIAPH1):c.2778+2dup
NM_005219.5(DIAPH1):c.2779-10T>A
NM_005219.5(DIAPH1):c.2779-11T>C
NM_005219.5(DIAPH1):c.2779-14G>A
NM_005219.5(DIAPH1):c.2779-20C>T rs2099887801
NM_005219.5(DIAPH1):c.2779-6T>C
NM_005219.5(DIAPH1):c.2779-6del rs1431116673
NM_005219.5(DIAPH1):c.2779A>G (p.Met927Val) rs1277130012
NM_005219.5(DIAPH1):c.2780T>C (p.Met927Thr)
NM_005219.5(DIAPH1):c.2795G>A (p.Arg932Gln) rs370578225
NM_005219.5(DIAPH1):c.2799G>A (p.Leu933=)
NM_005219.5(DIAPH1):c.279G>A (p.Leu93=)
NM_005219.5(DIAPH1):c.27G>A (p.Gly9=) rs757885737
NM_005219.5(DIAPH1):c.2807G>A (p.Arg936His)
NM_005219.5(DIAPH1):c.2808C>A (p.Arg936=)
NM_005219.5(DIAPH1):c.2809C>T (p.Leu937Phe)
NM_005219.5(DIAPH1):c.2811C>G (p.Leu937=) rs900280842
NM_005219.5(DIAPH1):c.2813A>T (p.Asn938Ile)
NM_005219.5(DIAPH1):c.2815G>A (p.Ala939Thr)
NM_005219.5(DIAPH1):c.2818A>G (p.Ile940Val) rs2099887788
NM_005219.5(DIAPH1):c.2821C>A (p.Leu941Ile)
NM_005219.5(DIAPH1):c.2829G>A (p.Lys943=)
NM_005219.5(DIAPH1):c.2842G>A (p.Glu948Lys)
NM_005219.5(DIAPH1):c.2846A>T (p.Gln949Leu)
NM_005219.5(DIAPH1):c.2848G>A (p.Val950Met)
NM_005219.5(DIAPH1):c.2861A>G (p.Lys954Arg) rs2154595007
NM_005219.5(DIAPH1):c.2877T>G (p.Ser959=) rs1554201404
NM_005219.5(DIAPH1):c.2878G>A (p.Val960Ile) rs2099887778
NM_005219.5(DIAPH1):c.2880C>T (p.Val960=)
NM_005219.5(DIAPH1):c.2893_2894inv (p.Glu965Ser)
NM_005219.5(DIAPH1):c.2911G>C (p.Glu971Gln)
NM_005219.5(DIAPH1):c.2915G>A (p.Ser972Asn)
NM_005219.5(DIAPH1):c.2921C>G (p.Ser974Cys) rs2154595004
NM_005219.5(DIAPH1):c.2926C>T (p.Leu976Phe) rs2154595003
NM_005219.5(DIAPH1):c.2928C>G (p.Leu976=)
NM_005219.5(DIAPH1):c.2931A>G (p.Leu977=) rs2154595002
NM_005219.5(DIAPH1):c.2939C>T (p.Thr980Ile)
NM_005219.5(DIAPH1):c.2940C>G (p.Thr980=)
NM_005219.5(DIAPH1):c.2944C>G (p.Leu982Val)
NM_005219.5(DIAPH1):c.2949T>A (p.Val983=)
NM_005219.5(DIAPH1):c.2965G>A (p.Ala989Thr)
NM_005219.5(DIAPH1):c.2967T>C (p.Ala989=)
NM_005219.5(DIAPH1):c.2974A>G (p.Arg992Gly) rs2154595000
NM_005219.5(DIAPH1):c.2978A>G (p.Asn993Ser)
NM_005219.5(DIAPH1):c.2984G>C (p.Gly995Ala)
NM_005219.5(DIAPH1):c.2985T>C (p.Gly995=)
NM_005219.5(DIAPH1):c.2988T>A (p.Ala996=) rs2154594999
NM_005219.5(DIAPH1):c.29C>G (p.Pro10Arg) rs750068600
NM_005219.5(DIAPH1):c.300+13T>C
NM_005219.5(DIAPH1):c.300+16C>T
NM_005219.5(DIAPH1):c.300+17C>G
NM_005219.5(DIAPH1):c.300+19A>G
NM_005219.5(DIAPH1):c.3001A>G (p.Ile1001Val)
NM_005219.5(DIAPH1):c.3002T>G (p.Ile1001Ser)
NM_005219.5(DIAPH1):c.3003C>G (p.Ile1001Met) rs1554201371
NM_005219.5(DIAPH1):c.300G>C (p.Leu100=) rs547319575
NM_005219.5(DIAPH1):c.301-11C>T
NM_005219.5(DIAPH1):c.301-13C>T
NM_005219.5(DIAPH1):c.301-14dup
NM_005219.5(DIAPH1):c.301-15_301-14del
NM_005219.5(DIAPH1):c.301-20C>T
NM_005219.5(DIAPH1):c.301-4C>T rs767789914
NM_005219.5(DIAPH1):c.301-6T>C
NM_005219.5(DIAPH1):c.3015T>C (p.Cys1005=)
NM_005219.5(DIAPH1):c.3017A>G (p.Lys1006Arg)
NM_005219.5(DIAPH1):c.3018+11G>T
NM_005219.5(DIAPH1):c.3018+3G>A rs2154594998
NM_005219.5(DIAPH1):c.3018+6C>T rs2154594997
NM_005219.5(DIAPH1):c.3019-11C>T
NM_005219.5(DIAPH1):c.3019-11_3019-10del
NM_005219.5(DIAPH1):c.3019-17del rs2154594993
NM_005219.5(DIAPH1):c.3019-5C>G
NM_005219.5(DIAPH1):c.3019-7C>G
NM_005219.5(DIAPH1):c.3030C>G (p.Thr1010=) rs1326319400
NM_005219.5(DIAPH1):c.3032A>C (p.Lys1011Thr)
NM_005219.5(DIAPH1):c.3037A>G (p.Thr1013Ala)
NM_005219.5(DIAPH1):c.3040G>C (p.Asp1014His)
NM_005219.5(DIAPH1):c.3048G>A (p.Lys1016=) rs371366611
NM_005219.5(DIAPH1):c.3060A>G (p.Leu1020=) rs2154594991
NM_005219.5(DIAPH1):c.3063C>T (p.His1021=)
NM_005219.5(DIAPH1):c.3067T>C (p.Leu1023=)
NM_005219.5(DIAPH1):c.3078G>C (p.Leu1026Phe)
NM_005219.5(DIAPH1):c.307A>G (p.Met103Val) rs2099897198
NM_005219.5(DIAPH1):c.3081T>C (p.Cys1027=)
NM_005219.5(DIAPH1):c.3084G>A (p.Glu1028=)
NM_005219.5(DIAPH1):c.308T>C (p.Met103Thr) rs2154596616
NM_005219.5(DIAPH1):c.3092A>T (p.Tyr1031Phe)
NM_005219.5(DIAPH1):c.3094C>A (p.Pro1032Thr)
NM_005219.5(DIAPH1):c.3099T>A (p.Asp1033Glu)
NM_005219.5(DIAPH1):c.30C>G (p.Pro10=)
NM_005219.5(DIAPH1):c.30C>T (p.Pro10=)
NM_005219.5(DIAPH1):c.30del (p.Gly11fs)
NM_005219.5(DIAPH1):c.3105C>T (p.Leu1035=)
NM_005219.5(DIAPH1):c.3107A>C (p.Lys1036Thr)
NM_005219.5(DIAPH1):c.3111T>A (p.Phe1037Leu) rs376328260
NM_005219.5(DIAPH1):c.3111T>G (p.Phe1037Leu) rs376328260
NM_005219.5(DIAPH1):c.3112C>G (p.Pro1038Ala)
NM_005219.5(DIAPH1):c.3117C>G (p.Asp1039Glu)
NM_005219.5(DIAPH1):c.3118G>A (p.Glu1040Lys)
NM_005219.5(DIAPH1):c.3126C>T (p.Ala1042=) rs899924262
NM_005219.5(DIAPH1):c.3127C>T (p.His1043Tyr)
NM_005219.5(DIAPH1):c.3130G>C (p.Val1044Leu) rs2099887715
NM_005219.5(DIAPH1):c.3132G>C (p.Val1044=) rs748218553
NM_005219.5(DIAPH1):c.3138A>G (p.Lys1046=)
NM_005219.5(DIAPH1):c.3140C>T (p.Ala1047Val)
NM_005219.5(DIAPH1):c.3143G>C (p.Ser1048Thr)
NM_005219.5(DIAPH1):c.3145C>A (p.Arg1049=) rs863225243
NM_005219.5(DIAPH1):c.3146G>A (p.Arg1049Gln)
NM_005219.5(DIAPH1):c.3148+16del rs1562284112
NM_005219.5(DIAPH1):c.3148+17T>A
NM_005219.5(DIAPH1):c.3148+17T>C
NM_005219.5(DIAPH1):c.3148+20A>G
NM_005219.5(DIAPH1):c.3148+6G>A
NM_005219.5(DIAPH1):c.3149-13_3149-3del
NM_005219.5(DIAPH1):c.3149-15_3149-14insG
NM_005219.5(DIAPH1):c.3149-15_3149-3del
NM_005219.5(DIAPH1):c.3149-15_3149-3dup
NM_005219.5(DIAPH1):c.3149-16T>G
NM_005219.5(DIAPH1):c.3149-18T>G
NM_005219.5(DIAPH1):c.3149-25_3149-15dup rs79558427
NM_005219.5(DIAPH1):c.3149-3T>A
NM_005219.5(DIAPH1):c.3149-3_3149-2insC
NM_005219.5(DIAPH1):c.3149-7_3149-6insG rs2154594982
NM_005219.5(DIAPH1):c.3149-8_3149-7insC
NM_005219.5(DIAPH1):c.3156T>C (p.Ala1052=)
NM_005219.5(DIAPH1):c.3157G>A (p.Glu1053Lys) rs1003389476
NM_005219.5(DIAPH1):c.3166C>T (p.Gln1056Ter) rs1331356644
NM_005219.5(DIAPH1):c.3167A>C (p.Gln1056Pro) rs2154594980
NM_005219.5(DIAPH1):c.3168A>G (p.Gln1056=)
NM_005219.5(DIAPH1):c.3172A>T (p.Asn1058Tyr) rs2154594979
NM_005219.5(DIAPH1):c.3179A>G (p.Asp1060Gly) rs1162981056
NM_005219.5(DIAPH1):c.317A>G (p.Asn106Ser)
NM_005219.5(DIAPH1):c.3182A>C (p.Gln1061Pro)
NM_005219.5(DIAPH1):c.3182A>G (p.Gln1061Arg)
NM_005219.5(DIAPH1):c.3183G>C (p.Gln1061His)
NM_005219.5(DIAPH1):c.3192A>G (p.Lys1064=)
NM_005219.5(DIAPH1):c.3195A>C (p.Gln1065His)
NM_005219.5(DIAPH1):c.3203A>T (p.Asp1068Val)
NM_005219.5(DIAPH1):c.3206_3207insTTC (p.Val1069_Glu1070insSer) rs1450758628
NM_005219.5(DIAPH1):c.3211C>T (p.Arg1071Cys)
NM_005219.5(DIAPH1):c.3211_3212insAT (p.Arg1071fs)
NM_005219.5(DIAPH1):c.3217G>A (p.Val1073Ile)
NM_005219.5(DIAPH1):c.3217_3219dup (p.Val1073dup) rs2099887571
NM_005219.5(DIAPH1):c.3220C>G (p.Gln1074Glu) rs1012562287
NM_005219.5(DIAPH1):c.3223A>C (p.Asn1075His)
NM_005219.5(DIAPH1):c.3226T>A (p.Phe1076Ile)
NM_005219.5(DIAPH1):c.3231A>C (p.Pro1077=)
NM_005219.5(DIAPH1):c.3231A>G (p.Pro1077=)
NM_005219.5(DIAPH1):c.3233C>T (p.Ala1078Val)
NM_005219.5(DIAPH1):c.3237C>T (p.Ala1079=) rs777308371
NM_005219.5(DIAPH1):c.3247A>G (p.Lys1083Glu)
NM_005219.5(DIAPH1):c.3252C>G (p.Asp1084Glu)
NM_005219.5(DIAPH1):c.3254A>G (p.Lys1085Arg)
NM_005219.5(DIAPH1):c.3268dup (p.Met1090fs) rs1235751512
NM_005219.5(DIAPH1):c.3273+11T>C rs2154594977
NM_005219.5(DIAPH1):c.3273+11T>G rs2154594977
NM_005219.5(DIAPH1):c.3273+19A>T
NM_005219.5(DIAPH1):c.3273+4T>G
NM_005219.5(DIAPH1):c.3273+5C>T
NM_005219.5(DIAPH1):c.3273+8C>T
NM_005219.5(DIAPH1):c.3274-10T>G rs2099887339
NM_005219.5(DIAPH1):c.3274-11C>T
NM_005219.5(DIAPH1):c.3274-18T>C
NM_005219.5(DIAPH1):c.3274-23_3274-18dup
NM_005219.5(DIAPH1):c.3274-37TTGGTC[2]
NM_005219.5(DIAPH1):c.3274-37TTGGTC[4] rs761110996
NM_005219.5(DIAPH1):c.3274-5T>C rs748520819
NM_005219.5(DIAPH1):c.3274-7G>A
NM_005219.5(DIAPH1):c.3292C>A (p.Gln1098Lys) rs2099887333
NM_005219.5(DIAPH1):c.3293A>T (p.Gln1098Leu) rs997606547
NM_005219.5(DIAPH1):c.3297A>G (p.Glu1099=)
NM_005219.5(DIAPH1):c.3304A>G (p.Asn1102Asp)
NM_005219.5(DIAPH1):c.3306C>G (p.Asn1102Lys)
NM_005219.5(DIAPH1):c.3308A>G (p.Lys1103Arg)
NM_005219.5(DIAPH1):c.3318G>A (p.Met1106Ile) rs1596337513
NM_005219.5(DIAPH1):c.3321G>C (p.Met1107Ile)
NM_005219.5(DIAPH1):c.3330C>T (p.Asn1110=) rs2154594957
NM_005219.5(DIAPH1):c.3331A>T (p.Met1111Leu) rs371161306
NM_005219.5(DIAPH1):c.3332T>C (p.Met1111Thr) rs893998939
NM_005219.5(DIAPH1):c.3336G>C (p.Glu1112Asp) rs2154594956
NM_005219.5(DIAPH1):c.3339C>T (p.Thr1113=)
NM_005219.5(DIAPH1):c.3351G>A (p.Glu1117=)
NM_005219.5(DIAPH1):c.3354G>A (p.Leu1118=)
NM_005219.5(DIAPH1):c.3357C>A (p.Gly1119=) rs1267459292
NM_005219.5(DIAPH1):c.3366C>T (p.Phe1122=)
NM_005219.5(DIAPH1):c.3369C>T (p.Leu1123=)
NM_005219.5(DIAPH1):c.3374A>T (p.Asp1125Val) rs1490710264
NM_005219.5(DIAPH1):c.3406A>T (p.Met1136Leu) rs1554200929
NM_005219.5(DIAPH1):c.3409G>T (p.Asp1137Tyr)
NM_005219.5(DIAPH1):c.3414_3415delinsAA (p.His1139Asn)
NM_005219.5(DIAPH1):c.3416A>G (p.His1139Arg)
NM_005219.5(DIAPH1):c.3424C>T (p.Arg1142Trp) rs1353583066
NM_005219.5(DIAPH1):c.3430A>G (p.Met1144Val) rs2154594954
NM_005219.5(DIAPH1):c.3438+12A>G
NM_005219.5(DIAPH1):c.3438+14A>G
NM_005219.5(DIAPH1):c.3438+18G>T
NM_005219.5(DIAPH1):c.3438+8dup
NM_005219.5(DIAPH1):c.3439C>G (p.Gln1147Glu)
NM_005219.5(DIAPH1):c.343G>C (p.Glu115Gln)
NM_005219.5(DIAPH1):c.3463C>G (p.Arg1155Gly) rs369467830
NM_005219.5(DIAPH1):c.3464G>A (p.Arg1155Gln)
NM_005219.5(DIAPH1):c.3466C>T (p.Arg1156Trp)
NM_005219.5(DIAPH1):c.3478G>C (p.Glu1160Gln)
NM_005219.5(DIAPH1):c.3486G>A (p.Met1162Ile) rs747116749
NM_005219.5(DIAPH1):c.3486G>C (p.Met1162Ile) rs747116749
NM_005219.5(DIAPH1):c.348G>A (p.Lys116=) rs2154596614
NM_005219.5(DIAPH1):c.3490C>A (p.Arg1164=)
NM_005219.5(DIAPH1):c.3491G>A (p.Arg1164Gln)
NM_005219.5(DIAPH1):c.3492A>G (p.Arg1164=)
NM_005219.5(DIAPH1):c.3504C>T (p.Ala1168=)
NM_005219.5(DIAPH1):c.3507G>A (p.Lys1169=)
NM_005219.5(DIAPH1):c.3507G>C (p.Lys1169Asn)
NM_005219.5(DIAPH1):c.350A>C (p.Asp117Ala)
NM_005219.5(DIAPH1):c.3513G>A (p.Lys1171=)
NM_005219.5(DIAPH1):c.3516del (p.Glu1173fs)
NM_005219.5(DIAPH1):c.3526C>T (p.Arg1176Trp) rs763106782
NM_005219.5(DIAPH1):c.3528G>C (p.Arg1176=) rs1008027878
NM_005219.5(DIAPH1):c.3529C>T (p.Leu1177=)
NM_005219.5(DIAPH1):c.352A>T (p.Ile118Phe) rs769174848
NM_005219.5(DIAPH1):c.3538C>G (p.Gln1180Glu) rs374304870
NM_005219.5(DIAPH1):c.3555A>C (p.Gln1185His)
NM_005219.5(DIAPH1):c.3559A>C (p.Ile1187Leu)
NM_005219.5(DIAPH1):c.3559A>G (p.Ile1187Val)
NM_005219.5(DIAPH1):c.3570T>C (p.Asn1190=) rs1596337059
NM_005219.5(DIAPH1):c.3574+15C>A
NM_005219.5(DIAPH1):c.3574+15C>G
NM_005219.5(DIAPH1):c.3574+15C>T
NM_005219.5(DIAPH1):c.3574+18_3574+22del
NM_005219.5(DIAPH1):c.3574+5G>C
NM_005219.5(DIAPH1):c.3574+8G>A
NM_005219.5(DIAPH1):c.3575-13T>C
NM_005219.5(DIAPH1):c.3575-14G>A
NM_005219.5(DIAPH1):c.3575-6T>A rs2154594919
NM_005219.5(DIAPH1):c.3575-9T>A
NM_005219.5(DIAPH1):c.3576G>A (p.Glu1192=)
NM_005219.5(DIAPH1):c.3589G>T (p.Gly1197Cys)
NM_005219.5(DIAPH1):c.358A>G (p.Ile120Val)
NM_005219.5(DIAPH1):c.3591T>A (p.Gly1197=)
NM_005219.5(DIAPH1):c.3592G>A (p.Val1198Met)
NM_005219.5(DIAPH1):c.3594G>A (p.Val1198=)
NM_005219.5(DIAPH1):c.3600C>T (p.Asp1200=)
NM_005219.5(DIAPH1):c.3604C>G (p.Leu1202Val) rs2154594918
NM_005219.5(DIAPH1):c.3629C>T (p.Ala1210Val) rs1263494333
NM_005219.5(DIAPH1):c.3633A>T (p.Ala1211=) rs2154594917
NM_005219.5(DIAPH1):c.3635T>C (p.Phe1212Ser)
NM_005219.5(DIAPH1):c.3637C>T (p.Arg1213Ter) rs876657776
NM_005219.5(DIAPH1):c.3644A>G (p.Lys1215Arg) rs2154594916
NM_005219.5(DIAPH1):c.3645G>A (p.Lys1215=)
NM_005219.5(DIAPH1):c.3651G>A (p.Gly1217=)
NM_005219.5(DIAPH1):c.3652C>T (p.Pro1218Ser)
NM_005219.5(DIAPH1):c.3655dup (p.Arg1219fs)
NM_005219.5(DIAPH1):c.3656G>A (p.Arg1219His)
NM_005219.5(DIAPH1):c.3659A>G (p.Gln1220Arg)
NM_005219.5(DIAPH1):c.3660A>G (p.Gln1220=)
NM_005219.5(DIAPH1):c.3661+13A>G
NM_005219.5(DIAPH1):c.3661+14T>C
NM_005219.5(DIAPH1):c.3661+16G>A rs2154594915
NM_005219.5(DIAPH1):c.3661+1G>T rs1476157529
NM_005219.5(DIAPH1):c.3661G>A (p.Ala1221Thr)
NM_005219.5(DIAPH1):c.3662-11T>G rs1278697343
NM_005219.5(DIAPH1):c.3662-14G>C
NM_005219.5(DIAPH1):c.3662-15C>T
NM_005219.5(DIAPH1):c.3662-16T>C
NM_005219.5(DIAPH1):c.3662-19C>G
NM_005219.5(DIAPH1):c.3662-20T>G
NM_005219.5(DIAPH1):c.3662-3C>T
NM_005219.5(DIAPH1):c.3662-6T>C rs2154594799
NM_005219.5(DIAPH1):c.3662-9C>G
NM_005219.5(DIAPH1):c.3673G>T (p.Ala1225Ser)
NM_005219.5(DIAPH1):c.3676G>A (p.Gly1226Arg)
NM_005219.5(DIAPH1):c.3678G>A (p.Gly1226=)
NM_005219.5(DIAPH1):c.3679T>C (p.Cys1227Arg) rs1466328561
NM_005219.5(DIAPH1):c.3680G>A (p.Cys1227Tyr) rs2154594798
NM_005219.5(DIAPH1):c.3686T>A (p.Val1229Asp)
NM_005219.5(DIAPH1):c.3689C>T (p.Thr1230Ile) rs2099885782
NM_005219.5(DIAPH1):c.3690A>T (p.Thr1230=) rs1596330582
NM_005219.5(DIAPH1):c.3693T>C (p.Ser1231=)
NM_005219.5(DIAPH1):c.3694C>G (p.Leu1232Val)
NM_005219.5(DIAPH1):c.369G>C (p.Glu123Asp)
NM_005219.5(DIAPH1):c.36C>T (p.Arg12=)
NM_005219.5(DIAPH1):c.3704C>G (p.Ser1235Trp) rs761387295
NM_005219.5(DIAPH1):c.3704C>T (p.Ser1235Leu)
NM_005219.5(DIAPH1):c.3706G>C (p.Glu1236Gln)
NM_005219.5(DIAPH1):c.3709C>A (p.Leu1237Met)
NM_005219.5(DIAPH1):c.370A>G (p.Met124Val)
NM_005219.5(DIAPH1):c.3711G>A (p.Leu1237=)
NM_005219.5(DIAPH1):c.3726C>G (p.Ala1242=) rs1431294451
NM_005219.5(DIAPH1):c.3727A>G (p.Met1243Val) rs1554199642
NM_005219.5(DIAPH1):c.3747G>A (p.Lys1249=)
NM_005219.5(DIAPH1):c.3748G>A (p.Val1250Met) rs1320235178
NM_005219.5(DIAPH1):c.3748G>C (p.Val1250Leu) rs1320235178
NM_005219.5(DIAPH1):c.3750G>A (p.Val1250=)
NM_005219.5(DIAPH1):c.3755A>C (p.Lys1252Thr)
NM_005219.5(DIAPH1):c.3764A>G (p.Glu1255Gly) rs2099885774
NM_005219.5(DIAPH1):c.3772C>T (p.Pro1258Ser) rs751282493
NM_005219.5(DIAPH1):c.3775A>G (p.Thr1259Ala)
NM_005219.5(DIAPH1):c.3777A>G (p.Thr1259=) rs1596330487
NM_005219.5(DIAPH1):c.3781C>T (p.Leu1261Phe) rs2154594796
NM_005219.5(DIAPH1):c.3783T>C (p.Leu1261=) rs1596330476
NM_005219.5(DIAPH1):c.3792C>T (p.Ala1264=) rs2099885771
NM_005219.5(DIAPH1):c.3793A>T (p.Lys1265Ter) rs2099885770
NM_005219.5(DIAPH1):c.3799T>C (p.Leu1267=)
NM_005219.5(DIAPH1):c.3809G>T (p.Arg1270Leu) rs371664456
NM_005219.5(DIAPH1):c.380A>G (p.Gln127Arg)
NM_005219.5(DIAPH1):c.3811G>T (p.Ala1271Ser) rs1167599945
NM_005219.5(DIAPH1):c.3818A>C (p.Ter1273Ser)
NM_005219.5(DIAPH1):c.3818A>G (p.Ter1273=)
NM_005219.5(DIAPH1):c.3818A>T (p.Ter1273Leu) rs753432442
NM_005219.5(DIAPH1):c.381A>G (p.Gln127=)
NM_005219.5(DIAPH1):c.395C>A (p.Ser132Tyr)
NM_005219.5(DIAPH1):c.402+12del rs555848272
NM_005219.5(DIAPH1):c.402+14_402+33del rs777383591
NM_005219.5(DIAPH1):c.402+17G>C
NM_005219.5(DIAPH1):c.402+19A>G
NM_005219.5(DIAPH1):c.402+20C>T
NM_005219.5(DIAPH1):c.402+2T>C rs2154596613
NM_005219.5(DIAPH1):c.402+5G>A
NM_005219.5(DIAPH1):c.403-11C>G
NM_005219.5(DIAPH1):c.403-11C>T rs2154596608
NM_005219.5(DIAPH1):c.403-15A>G
NM_005219.5(DIAPH1):c.403-4C>G
NM_005219.5(DIAPH1):c.405C>T (p.Gly135=)
NM_005219.5(DIAPH1):c.407T>C (p.Met136Thr)
NM_005219.5(DIAPH1):c.411C>G (p.Ser137Arg)
NM_005219.5(DIAPH1):c.413A>G (p.Gln138Arg) rs1337954890
NM_005219.5(DIAPH1):c.41C>T (p.Thr14Ile)
NM_005219.5(DIAPH1):c.423C>T (p.Ser141=)
NM_005219.5(DIAPH1):c.427A>G (p.Lys143Glu)
NM_005219.5(DIAPH1):c.428A>G (p.Lys143Arg)
NM_005219.5(DIAPH1):c.434C>A (p.Ala145Asp)
NM_005219.5(DIAPH1):c.437T>C (p.Met146Thr)
NM_005219.5(DIAPH1):c.43C>T (p.Arg15Trp)
NM_005219.5(DIAPH1):c.440T>C (p.Met147Thr) rs2154596607
NM_005219.5(DIAPH1):c.443A>G (p.Tyr148Cys)
NM_005219.5(DIAPH1):c.44G>A (p.Arg15Gln) rs1596422064
NM_005219.5(DIAPH1):c.459G>T (p.Arg153Ser) rs748655447
NM_005219.5(DIAPH1):c.461C>T (p.Ser154Leu)
NM_005219.5(DIAPH1):c.467T>C (p.Leu156Ser)
NM_005219.5(DIAPH1):c.468G>T (p.Leu156Phe) rs1562330405
NM_005219.5(DIAPH1):c.469C>G (p.Arg157Gly)
NM_005219.5(DIAPH1):c.469C>T (p.Arg157Trp)
NM_005219.5(DIAPH1):c.477G>T (p.Met159Ile) rs2154596604
NM_005219.5(DIAPH1):c.47A>G (p.Asp16Gly)
NM_005219.5(DIAPH1):c.480T>C (p.Pro160=)
NM_005219.5(DIAPH1):c.482T>C (p.Leu161Pro)
NM_005219.5(DIAPH1):c.486C>G (p.Leu162=)
NM_005219.5(DIAPH1):c.486C>T (p.Leu162=)
NM_005219.5(DIAPH1):c.48C>G (p.Asp16Glu)
NM_005219.5(DIAPH1):c.49A>G (p.Lys17Glu)
NM_005219.5(DIAPH1):c.49AAG[2] (p.Lys19del)
NM_005219.5(DIAPH1):c.501C>T (p.Ser167=)
NM_005219.5(DIAPH1):c.50A>G (p.Lys17Arg) rs2099903137
NM_005219.5(DIAPH1):c.533+18G>C
NM_005219.5(DIAPH1):c.533+1G>T
NM_005219.5(DIAPH1):c.534-11G>A
NM_005219.5(DIAPH1):c.534-14T>C
NM_005219.5(DIAPH1):c.534-17C>T rs528857511
NM_005219.5(DIAPH1):c.534-8C>G
NM_005219.5(DIAPH1):c.534-9T>A
NM_005219.5(DIAPH1):c.538G>A (p.Val180Met) rs370495662
NM_005219.5(DIAPH1):c.543A>G (p.Gln181=)
NM_005219.5(DIAPH1):c.544A>G (p.Thr182Ala) rs2099897043
NM_005219.5(DIAPH1):c.546A>G (p.Thr182=) rs2154596591
NM_005219.5(DIAPH1):c.54G>A (p.Lys18=) rs2154597566
NM_005219.5(DIAPH1):c.556G>C (p.Glu186Gln) rs1440102285
NM_005219.5(DIAPH1):c.574T>C (p.Leu192=) rs1441409023
NM_005219.5(DIAPH1):c.58G>A (p.Gly20Ser)
NM_005219.5(DIAPH1):c.590G>A (p.Arg197Gln)
NM_005219.5(DIAPH1):c.596A>G (p.His199Arg) rs2154596588
NM_005219.5(DIAPH1):c.599A>T (p.Asp200Val)
NM_005219.5(DIAPH1):c.59_60delinsAA (p.Gly20Glu) rs2154597565
NM_005219.5(DIAPH1):c.60C>G (p.Gly20=)
NM_005219.5(DIAPH1):c.60C>T (p.Gly20=)
NM_005219.5(DIAPH1):c.614C>T (p.Thr205Ile) rs1489026152
NM_005219.5(DIAPH1):c.616G>A (p.Ala206Thr) rs2099897035
NM_005219.5(DIAPH1):c.620+11C>A
NM_005219.5(DIAPH1):c.620+19T>C
NM_005219.5(DIAPH1):c.621-10C>T
NM_005219.5(DIAPH1):c.621-13C>A
NM_005219.5(DIAPH1):c.621-15G>T
NM_005219.5(DIAPH1):c.621-20_621-15del
NM_005219.5(DIAPH1):c.621-2A>G rs2099896905
NM_005219.5(DIAPH1):c.621-3C>T
NM_005219.5(DIAPH1):c.621-9T>C rs761138352
NM_005219.5(DIAPH1):c.625T>C (p.Tyr209His) rs2154596563
NM_005219.5(DIAPH1):c.626dup (p.Tyr209Ter)
NM_005219.5(DIAPH1):c.62G>A (p.Arg21Gln)
NM_005219.5(DIAPH1):c.634C>T (p.Arg212Trp) rs769781925
NM_005219.5(DIAPH1):c.63G>C (p.Arg21=)
NM_005219.5(DIAPH1):c.646G>A (p.Glu216Lys)
NM_005219.5(DIAPH1):c.650T>C (p.Ile217Thr)
NM_005219.5(DIAPH1):c.666A>G (p.Lys222=)
NM_005219.5(DIAPH1):c.669T>C (p.Ala223=)
NM_005219.5(DIAPH1):c.66C>G (p.Ser22Arg) rs2099903133
NM_005219.5(DIAPH1):c.670T>C (p.Phe224Leu) rs2154596559
NM_005219.5(DIAPH1):c.677A>G (p.Asn226Ser) rs2099896900
NM_005219.5(DIAPH1):c.684+18C>T
NM_005219.5(DIAPH1):c.684+1G>A
NM_005219.5(DIAPH1):c.684+3G>A
NM_005219.5(DIAPH1):c.685-14C>G
NM_005219.5(DIAPH1):c.685-15T>C
NM_005219.5(DIAPH1):c.685-18T>C
NM_005219.5(DIAPH1):c.685-5A>T
NM_005219.5(DIAPH1):c.685-7C>T
NM_005219.5(DIAPH1):c.685-8_685-6del rs773403319
NM_005219.5(DIAPH1):c.689G>C (p.Gly230Ala)
NM_005219.5(DIAPH1):c.68C>T (p.Pro23Leu)
NM_005219.5(DIAPH1):c.693C>T (p.Ile231=)
NM_005219.5(DIAPH1):c.699C>A (p.Thr233=)
NM_005219.5(DIAPH1):c.69A>C (p.Pro23=)
NM_005219.5(DIAPH1):c.6G>C (p.Glu2Asp)
NM_005219.5(DIAPH1):c.701T>C (p.Met234Thr)
NM_005219.5(DIAPH1):c.702G>T (p.Met234Ile)
NM_005219.5(DIAPH1):c.708G>A (p.Glu236=)
NM_005219.5(DIAPH1):c.711A>G (p.Thr237=) rs2099896653
NM_005219.5(DIAPH1):c.715G>A (p.Glu239Lys)
NM_005219.5(DIAPH1):c.717A>G (p.Glu239=)
NM_005219.5(DIAPH1):c.722T>G (p.Ile241Ser)
NM_005219.5(DIAPH1):c.726A>C (p.Leu242=) rs1204190364
NM_005219.5(DIAPH1):c.726A>G (p.Leu242=)
NM_005219.5(DIAPH1):c.726A>T (p.Leu242=)
NM_005219.5(DIAPH1):c.72T>A (p.Asp24Glu) rs1189716868
NM_005219.5(DIAPH1):c.72T>C (p.Asp24=)
NM_005219.5(DIAPH1):c.735C>T (p.Val245=) rs771150697
NM_005219.5(DIAPH1):c.736A>G (p.Arg246Gly)
NM_005219.5(DIAPH1):c.740C>G (p.Ala247Gly)
NM_005219.5(DIAPH1):c.741C>G (p.Ala247=)
NM_005219.5(DIAPH1):c.743T>C (p.Met248Thr)
NM_005219.5(DIAPH1):c.751G>A (p.Ala251Thr) rs2154596507
NM_005219.5(DIAPH1):c.753T>A (p.Ala251=)
NM_005219.5(DIAPH1):c.757C>G (p.Pro253Ala)
NM_005219.5(DIAPH1):c.757C>T (p.Pro253Ser)
NM_005219.5(DIAPH1):c.759C>T (p.Pro253=) rs2154596505
NM_005219.5(DIAPH1):c.75G>C (p.Glu25Asp)
NM_005219.5(DIAPH1):c.761A>G (p.Asn254Ser)
NM_005219.5(DIAPH1):c.769A>G (p.Ile257Val)
NM_005219.5(DIAPH1):c.770T>C (p.Ile257Thr) rs1160650964
NM_005219.5(DIAPH1):c.786G>A (p.Leu262=)
NM_005219.5(DIAPH1):c.792T>C (p.Ser264=)
NM_005219.5(DIAPH1):c.807A>G (p.Leu269=)
NM_005219.5(DIAPH1):c.808C>T (p.Pro270Ser)
NM_005219.5(DIAPH1):c.809C>T (p.Pro270Leu)
NM_005219.5(DIAPH1):c.810G>T (p.Pro270=)
NM_005219.5(DIAPH1):c.811C>T (p.Gln271Ter)
NM_005219.5(DIAPH1):c.81C>T (p.Pro27=)
NM_005219.5(DIAPH1):c.822C>T (p.Asp274=)
NM_005219.5(DIAPH1):c.824+15T>A
NM_005219.5(DIAPH1):c.825-15C>G rs2154596466
NM_005219.5(DIAPH1):c.825-16C>T rs777497826
NM_005219.5(DIAPH1):c.825-18T>G
NM_005219.5(DIAPH1):c.825-20G>A rs373532900
NM_005219.5(DIAPH1):c.825-20G>C rs373532900
NM_005219.5(DIAPH1):c.825-20G>T
NM_005219.5(DIAPH1):c.825-7T>C
NM_005219.5(DIAPH1):c.825-9C>T
NM_005219.5(DIAPH1):c.825G>A (p.Met275Ile) rs1562326443
NM_005219.5(DIAPH1):c.839del (p.Leu280fs)
NM_005219.5(DIAPH1):c.83C>G (p.Ser28Trp) rs771016727
NM_005219.5(DIAPH1):c.845C>T (p.Ala282Val)
NM_005219.5(DIAPH1):c.846A>G (p.Ala282=)
NM_005219.5(DIAPH1):c.854A>T (p.Glu285Val) rs1596384556
NM_005219.5(DIAPH1):c.85G>T (p.Ala29Ser)
NM_005219.5(DIAPH1):c.866T>C (p.Met289Thr)
NM_005219.5(DIAPH1):c.868G>T (p.Asp290Tyr)
NM_005219.5(DIAPH1):c.86C>T (p.Ala29Val)
NM_005219.5(DIAPH1):c.87G>A (p.Ala29=) rs762960433
NM_005219.5(DIAPH1):c.880C>T (p.Arg294Cys)
NM_005219.5(DIAPH1):c.88G>T (p.Gly30Cys) rs1034109754
NM_005219.5(DIAPH1):c.890C>T (p.Pro297Leu)
NM_005219.5(DIAPH1):c.892C>T (p.Leu298=)
NM_005219.5(DIAPH1):c.895C>T (p.Leu299=)
NM_005219.5(DIAPH1):c.897G>A (p.Leu299=)
NM_005219.5(DIAPH1):c.899A>G (p.Asp300Gly)
NM_005219.5(DIAPH1):c.89del (p.Gly30fs)
NM_005219.5(DIAPH1):c.8C>T (p.Pro3Leu)
NM_005219.5(DIAPH1):c.904T>C (p.Leu302=)
NM_005219.5(DIAPH1):c.908A>G (p.Lys303Arg)
NM_005219.5(DIAPH1):c.910dup (p.Ser304fs) rs2154596461
NM_005219.5(DIAPH1):c.915A>G (p.Gly305=)
NM_005219.5(DIAPH1):c.918C>T (p.Thr306=)
NM_005219.5(DIAPH1):c.924T>G (p.Ile308Met)
NM_005219.5(DIAPH1):c.927A>T (p.Ala309=)
NM_005219.5(DIAPH1):c.933+11C>G
NM_005219.5(DIAPH1):c.933+16G>A
NM_005219.5(DIAPH1):c.933+18A>G
NM_005219.5(DIAPH1):c.933+19A>G
NM_005219.5(DIAPH1):c.933+20C>G
NM_005219.5(DIAPH1):c.933+3A>G
NM_005219.5(DIAPH1):c.933+7A>G
NM_005219.5(DIAPH1):c.934-16A>C
NM_005219.5(DIAPH1):c.934-3T>G rs886060033
NM_005219.5(DIAPH1):c.934-6T>C rs772759927
NM_005219.5(DIAPH1):c.934-8T>G
NM_005219.5(DIAPH1):c.939A>G (p.Gly313=) rs930424079
NM_005219.5(DIAPH1):c.941G>C (p.Cys314Ser) rs2099896293
NM_005219.5(DIAPH1):c.961C>G (p.Leu321Val) rs1214669823
NM_005219.5(DIAPH1):c.964A>G (p.Ile322Val)
NM_005219.5(DIAPH1):c.96C>A (p.Asp32Glu) rs1291832340
NM_005219.5(DIAPH1):c.96C>T (p.Asp32=)
NM_005219.5(DIAPH1):c.970C>A (p.Pro324Thr) rs1596384042
NM_005219.5(DIAPH1):c.974C>T (p.Ala325Val)
NM_005219.5(DIAPH1):c.975G>T (p.Ala325=)
NM_005219.5(DIAPH1):c.978G>A (p.Glu326=)
NM_005219.5(DIAPH1):c.988T>A (p.Phe330Ile) rs2154596449
NM_005219.5(DIAPH1):c.990C>T (p.Phe330=) rs1303310814
NM_005219.5(DIAPH1):c.991C>T (p.Arg331Ter)
NM_005219.5(DIAPH1):c.994G>A (p.Val332Ile) rs1339571940
NM_005219.5(DIAPH1):c.999C>T (p.His333=) rs2099896284
NM_005219.5(DIAPH1):c.9G>C (p.Pro3=) rs1277870477
NM_005982.4(SIX1):c.113C>T (p.Pro38Leu)
NM_005982.4(SIX1):c.115G>T (p.Ala39Ser) rs1431824329
NM_005982.4(SIX1):c.138C>T (p.Asn46=)
NM_005982.4(SIX1):c.139G>C (p.Glu47Gln)
NM_005982.4(SIX1):c.14C>A (p.Pro5Gln)
NM_005982.4(SIX1):c.14C>T (p.Pro5Leu)
NM_005982.4(SIX1):c.184A>C (p.Asn62His)
NM_005982.4(SIX1):c.216C>A (p.Ser72Arg)
NM_005982.4(SIX1):c.225C>T (p.Phe75=)
NM_005982.4(SIX1):c.228G>A (p.Ser76=)
NM_005982.4(SIX1):c.228G>T (p.Ser76=)
NM_005982.4(SIX1):c.241C>T (p.Pro81Ser)
NM_005982.4(SIX1):c.24C>G (p.Gly8=) rs770093951
NM_005982.4(SIX1):c.267G>A (p.Lys89=)
NM_005982.4(SIX1):c.321C>T (p.Gly107=)
NM_005982.4(SIX1):c.328C>T (p.Arg110Trp) rs80356459
NM_005982.4(SIX1):c.329G>T (p.Arg110Leu) rs1064794308
NM_005982.4(SIX1):c.337C>T (p.Arg113Ter)
NM_005982.4(SIX1):c.340A>G (p.Lys114Glu)
NM_005982.4(SIX1):c.356G>A (p.Arg119His)
NM_005982.4(SIX1):c.357C>T (p.Arg119=) rs375984653
NM_005982.4(SIX1):c.373G>A (p.Glu125Lys) rs797044960
NM_005982.4(SIX1):c.385T>A (p.Tyr129Asn)
NM_005982.4(SIX1):c.386A>C (p.Tyr129Ser) rs104894478
NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys) rs104894478
NM_005982.4(SIX1):c.397_399del (p.Glu133del) rs80356460
NM_005982.4(SIX1):c.3G>C (p.Met1Ile)
NM_005982.4(SIX1):c.419G>A (p.Arg140Gln) rs2140241105
NM_005982.4(SIX1):c.421G>A (p.Glu141Lys)
NM_005982.4(SIX1):c.428A>G (p.Tyr143Cys)
NM_005982.4(SIX1):c.446del (p.Pro149fs)
NM_005982.4(SIX1):c.447A>G (p.Pro149=)
NM_005982.4(SIX1):c.457G>C (p.Glu153Gln)
NM_005982.4(SIX1):c.468_480dup (p.Thr161fs)
NM_005982.4(SIX1):c.482C>G (p.Thr161Ser)
NM_005982.4(SIX1):c.483C>T (p.Thr161=)
NM_005982.4(SIX1):c.487C>T (p.Leu163Phe)
NM_005982.4(SIX1):c.493A>G (p.Thr165Ala)
NM_005982.4(SIX1):c.498C>A (p.Thr166=)
NM_005982.4(SIX1):c.502G>A (p.Val168Ile)
NM_005982.4(SIX1):c.510C>G (p.Asn170Lys) rs1555366309
NM_005982.4(SIX1):c.522C>A (p.Asn174Lys)
NM_005982.4(SIX1):c.524G>A (p.Arg175Gln) rs2140240984
NM_005982.4(SIX1):c.528G>T (p.Arg176Ser)
NM_005982.4(SIX1):c.543C>G (p.Ala181=)
NM_005982.4(SIX1):c.550G>A (p.Ala184Thr)
NM_005982.4(SIX1):c.561-10dup
NM_005982.4(SIX1):c.561-14C>T
NM_005982.4(SIX1):c.561-19G>A
NM_005982.4(SIX1):c.568A>C (p.Thr190Pro)
NM_005982.4(SIX1):c.570C>G (p.Thr190=)
NM_005982.4(SIX1):c.583TCC[2] (p.Ser197del)
NM_005982.4(SIX1):c.609C>T (p.Leu203=)
NM_005982.4(SIX1):c.614C>T (p.Pro205Leu)
NM_005982.4(SIX1):c.620A>C (p.Glu207Ala) rs1894944353
NM_005982.4(SIX1):c.644G>T (p.Ser215Ile) rs540778343
NM_005982.4(SIX1):c.689C>T (p.Ser230Leu)
NM_005982.4(SIX1):c.693C>A (p.Val231=)
NM_005982.4(SIX1):c.696T>G (p.Leu232=)
NM_005982.4(SIX1):c.713T>A (p.Met238Lys)
NM_005982.4(SIX1):c.722C>A (p.Ala241Asp)
NM_005982.4(SIX1):c.733A>T (p.Asn245Tyr)
NM_005982.4(SIX1):c.746C>A (p.Pro249Gln) rs368974927
NM_005982.4(SIX1):c.746C>T (p.Pro249Leu) rs368974927
NM_005982.4(SIX1):c.749G>A (p.Gly250Asp)
NM_005982.4(SIX1):c.775G>T (p.Gly259Cys)
NM_005982.4(SIX1):c.786C>A (p.Thr262=)
NM_005982.4(SIX1):c.811C>T (p.Leu271=)
NM_005982.4(SIX1):c.811_812del (p.Leu271fs) rs762353418
NM_005982.4(SIX1):c.816dup (p.Gly273fs)
NM_005982.4(SIX1):c.817G>A (p.Gly273Ser)
NM_005982.4(SIX1):c.838G>A (p.Val280Met) rs2140239343
NM_005982.4(SIX1):c.843C>A (p.Asp281Glu)
NM_005982.4(SIX1):c.847G>A (p.Gly283Arg)
NM_005982.4(SIX1):c.849G>A (p.Gly283=)
NM_005982.4(SIX1):c.852C>T (p.Ser284=)

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