ClinVar Miner

List of variants studied for Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1281
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HGVS dbSNP gnomAD frequency
NM_005219.5(DIAPH1):c.1461+20G>A rs2302103 0.67950
NM_005219.5(DIAPH1):c.117+14C>T rs2074913 0.05773
NM_005219.5(DIAPH1):c.390C>T (p.Tyr130=) rs34296458 0.03749
NM_005219.5(DIAPH1):c.3579C>T (p.Gly1193=) rs2302102 0.02275
NM_005219.5(DIAPH1):c.3765G>A (p.Glu1255=) rs35755269 0.00955
NM_005219.5(DIAPH1):c.621-19T>C rs181224861 0.00828
NM_005219.5(DIAPH1):c.1045-20T>A rs75686999 0.00527
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_005219.5(DIAPH1):c.1407T>C (p.Ile469=) rs75860159 0.00222
NM_005219.5(DIAPH1):c.1985G>A (p.Gly662Asp) rs200735096 0.00207
NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His) rs182139018 0.00147
NM_005219.5(DIAPH1):c.1423G>A (p.Glu475Lys) rs193036129 0.00123
NM_005219.5(DIAPH1):c.2067A>C (p.Pro689=) rs876657451 0.00108
NM_005219.5(DIAPH1):c.2437G>A (p.Ala813Thr) rs147203145 0.00088
NM_005219.5(DIAPH1):c.1748C>G (p.Pro583Arg) rs201719002 0.00055
NM_005219.5(DIAPH1):c.2011G>A (p.Gly671Arg) rs766804741 0.00048
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_005219.5(DIAPH1):c.3574+10G>A rs200327015 0.00037
NM_005219.5(DIAPH1):c.2224C>G (p.Pro742Ala) rs199749212 0.00036
NM_005219.5(DIAPH1):c.687T>C (p.Phe229=) rs201149420 0.00034
NM_005219.5(DIAPH1):c.1784T>C (p.Ile595Thr) rs374299911 0.00033
NM_005219.5(DIAPH1):c.2032C>T (p.Pro678Ser) rs186370335 0.00030
NM_005219.5(DIAPH1):c.685-5A>G rs367786290 0.00023
NM_005219.5(DIAPH1):c.300+12A>G rs201535699 0.00019
NM_005219.5(DIAPH1):c.200C>T (p.Ala67Val) rs142480526 0.00018
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_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_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_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_005219.5(DIAPH1):c.2436C>T (p.Phe812=) rs185113837 0.00010
NM_005219.5(DIAPH1):c.3574+6G>C rs538555634 0.00010
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_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_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_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_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_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_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_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+6T>C rs948017991 0.00002
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.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
NC_000005.10:g.(?_141516831)_(141618934_?)del
NC_000005.9:g.(?_140896398)_(140998501_?)dup
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.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+6A>G
NM_005219.5(DIAPH1):c.1044+7T>A
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.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.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.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.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+12_117+15del
NM_005219.5(DIAPH1):c.117+18C>T
NM_005219.5(DIAPH1):c.117+19C>A
NM_005219.5(DIAPH1):c.117+20C>G
NM_005219.5(DIAPH1):c.117+9C>G
NM_005219.5(DIAPH1):c.1173T>C (p.Asn391=)
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.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.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+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.1281-13T>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.132C>T (p.Leu44=)
NM_005219.5(DIAPH1):c.1341G>A (p.Gly447=)
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.1396+11T>C
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.145-14T>C
NM_005219.5(DIAPH1):c.145-17T>C
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.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.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>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.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.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.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+14A>C
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.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.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.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.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.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.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.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.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.1879A>G (p.Ile627Val)
NM_005219.5(DIAPH1):c.1881C>T (p.Ile627=)
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.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.1915A>G (p.Ile639Val) rs781398463
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.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.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.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.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.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.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.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.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.2175A>G (p.Gly725=)
NM_005219.5(DIAPH1):c.2178C>T (p.Ile726=)
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.21C>G (p.Ser7Arg)
NM_005219.5(DIAPH1):c.2208T>C (p.Pro736=) rs2154596274
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.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.2255C>A (p.Pro752Gln)
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+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.2359-16C>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.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.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.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.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.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.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.2554T>C (p.Leu852=)
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.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.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.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.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.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.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.2779-11T>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.2818A>G (p.Ile940Val) rs2099887788
NM_005219.5(DIAPH1):c.2842G>A (p.Glu948Lys)
NM_005219.5(DIAPH1):c.2846A>T (p.Gln949Leu)
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.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.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.301-15_301-14del
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.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.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.3094C>A (p.Pro1032Thr)
NM_005219.5(DIAPH1):c.3099T>A (p.Asp1033Glu)
NM_005219.5(DIAPH1):c.30C>T (p.Pro10=)
NM_005219.5(DIAPH1):c.3105C>T (p.Leu1035=)
NM_005219.5(DIAPH1):c.3107A>C (p.Lys1036Thr)
NM_005219.5(DIAPH1):c.3111T>G (p.Phe1037Leu) rs376328260
NM_005219.5(DIAPH1):c.3112C>G (p.Pro1038Ala)
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.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_3149-3dup
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.3149-7_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.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.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.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+5C>T
NM_005219.5(DIAPH1):c.3273+8C>T
NM_005219.5(DIAPH1):c.3274-10T>G rs2099887339
NM_005219.5(DIAPH1):c.3274-18T>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.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.3424C>T (p.Arg1142Trp) rs1353583066
NM_005219.5(DIAPH1):c.3430A>G (p.Met1144Val) rs2154594954
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.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>C (p.Lys1169Asn)
NM_005219.5(DIAPH1):c.350A>C (p.Asp117Ala)
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.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.3655dup (p.Arg1219fs)
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.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.3706G>C (p.Glu1236Gln)
NM_005219.5(DIAPH1):c.3709C>A (p.Leu1237Met)
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.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.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.403-4C>G
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.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.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.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.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.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.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.621-2A>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.646G>A (p.Glu216Lys)
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+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.685-5A>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.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.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.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.770T>C (p.Ile257Thr) rs1160650964
NM_005219.5(DIAPH1):c.792T>C (p.Ser264=)
NM_005219.5(DIAPH1):c.809C>T (p.Pro270Leu)
NM_005219.5(DIAPH1):c.810G>T (p.Pro270=)
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.825-9C>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.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.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.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.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+16G>A
NM_005219.5(DIAPH1):c.933+18A>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.934-6T>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.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.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.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

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