ClinVar Miner

List of variants in gene DIAPH1 reported as likely benign for Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 541
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HGVS dbSNP gnomAD frequency
NM_005219.5(DIAPH1):c.621-19T>C rs181224861 0.00828
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.2011G>A (p.Gly671Arg) rs766804741 0.00048
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.687T>C (p.Phe229=) rs201149420 0.00034
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.301-5C>T rs190481949 0.00017
NM_005219.5(DIAPH1):c.969A>G (p.Thr323=) rs369453319 0.00017
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.144+19G>A rs570074502 0.00014
NM_005219.5(DIAPH1):c.2677-14C>G rs377314966 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.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.2886T>C (p.Ala962=) rs750444501 0.00011
NM_005219.5(DIAPH1):c.2436C>T (p.Phe812=) rs185113837 0.00010
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.2463C>G (p.Ala821=) rs776449168 0.00008
NM_005219.5(DIAPH1):c.2677-11C>T rs371556441 0.00007
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.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.3054G>A (p.Thr1018=) rs727502960 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.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.2041T>C (p.Leu681=) rs953060204 0.00004
NM_005219.5(DIAPH1):c.222A>G (p.Ser74=) rs930344993 0.00004
NM_005219.5(DIAPH1):c.2359-19A>T rs746608925 0.00004
NM_005219.5(DIAPH1):c.2538A>G (p.Val846=) rs973415272 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.3661+12C>T rs754008936 0.00004
NM_005219.5(DIAPH1):c.3662-4G>A rs756395607 0.00004
NM_005219.5(DIAPH1):c.453G>A (p.Glu151=) rs749681806 0.00004
NM_005219.5(DIAPH1):c.975G>A (p.Ala325=) rs774957853 0.00004
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.2328G>A (p.Glu776=) rs13175631 0.00003
NM_005219.5(DIAPH1):c.250T>C (p.Leu84=) rs147691941 0.00003
NM_005219.5(DIAPH1):c.27G>T (p.Gly9=) rs757885737 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.621-4A>G rs772123724 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.2547A>G (p.Leu849=) rs963579651 0.00002
NM_005219.5(DIAPH1):c.2889A>G (p.Ala963=) rs770304914 0.00002
NM_005219.5(DIAPH1):c.2994C>T (p.Gly998=) rs992133469 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.3219T>G (p.Val1073=) rs773708839 0.00002
NM_005219.5(DIAPH1):c.3273+8C>G rs772177335 0.00002
NM_005219.5(DIAPH1):c.3675C>T (p.Ala1225=) rs371385202 0.00002
NM_005219.5(DIAPH1):c.3705G>A (p.Ser1235=) rs776296177 0.00002
NM_005219.5(DIAPH1):c.783G>A (p.Lys261=) rs727502962 0.00002
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.1107G>A (p.Gly369=) rs753420499 0.00001
NM_005219.5(DIAPH1):c.1116T>C (p.Asp372=) rs763746608 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.1239C>T (p.Ile413=) rs774466966 0.00001
NM_005219.5(DIAPH1):c.1338C>T (p.Asn446=) rs746584977 0.00001
NM_005219.5(DIAPH1):c.1350T>C (p.Pro450=) rs1208045567 0.00001
NM_005219.5(DIAPH1):c.144+8C>T rs768557998 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.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.180G>A (p.Glu60=) rs751683632 0.00001
NM_005219.5(DIAPH1):c.2025C>T (p.Ile675=) rs557522528 0.00001
NM_005219.5(DIAPH1):c.2100T>C (p.Ile700=) rs755690554 0.00001
NM_005219.5(DIAPH1):c.213T>C (p.Ser71=) rs2099897669 0.00001
NM_005219.5(DIAPH1):c.2229C>T (p.Pro743=) rs1361779351 0.00001
NM_005219.5(DIAPH1):c.2292A>G (p.Pro764=) rs773214407 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.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.2676+16G>A rs369662192 0.00001
NM_005219.5(DIAPH1):c.2772C>T (p.Gly924=) rs779376542 0.00001
NM_005219.5(DIAPH1):c.2778+20G>A rs761883411 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.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.3027C>T (p.Asp1009=) rs555292453 0.00001
NM_005219.5(DIAPH1):c.3099T>C (p.Asp1033=) rs727504838 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.3198T>C (p.Ile1066=) rs906341811 0.00001
NM_005219.5(DIAPH1):c.3276C>T (p.Ser1092=) rs369559394 0.00001
NM_005219.5(DIAPH1):c.3360G>A (p.Glu1120=) rs727504670 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.3552G>A (p.Glu1184=) rs1455848656 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.402+16G>A rs367605861 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.630T>C (p.Asp210=) rs199683670 0.00001
NM_005219.5(DIAPH1):c.684+18C>G rs1012134884 0.00001
NM_005219.5(DIAPH1):c.685-10G>T rs756403159 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.840G>A (p.Leu280=) rs1344655686 0.00001
NM_005219.5(DIAPH1):c.882T>A (p.Arg294=) rs757469488 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_005219.4(DIAPH1):c.3439-3del rs1335130331
NM_005219.5(DIAPH1):c.1002C>T (p.Ile334=) rs748386464
NM_005219.5(DIAPH1):c.1021T>C (p.Leu341=)
NM_005219.5(DIAPH1):c.1026G>C (p.Gly342=) rs1479604388
NM_005219.5(DIAPH1):c.1044+11_1044+16del
NM_005219.5(DIAPH1):c.1044+14C>T
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.1051C>A (p.Arg351=)
NM_005219.5(DIAPH1):c.1068A>G (p.Glu356=) rs2099896254
NM_005219.5(DIAPH1):c.1095T>C (p.Phe365=)
NM_005219.5(DIAPH1):c.1126C>T (p.Leu376=) rs141629026
NM_005219.5(DIAPH1):c.1137_1138delinsTT (p.Arg379_Leu380=) rs2154596434
NM_005219.5(DIAPH1):c.1163+14dup
NM_005219.5(DIAPH1):c.1164-4C>T
NM_005219.5(DIAPH1):c.1164-9C>A
NM_005219.5(DIAPH1):c.1167C>T (p.Asp389=) rs759576935
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.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.120T>A (p.Thr40=)
NM_005219.5(DIAPH1):c.1212A>G (p.Ser404=) rs749220748
NM_005219.5(DIAPH1):c.1236C>A (p.Ser412=)
NM_005219.5(DIAPH1):c.1280+15T>C rs2154596414
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.1287G>A (p.Gln429=) rs748159908
NM_005219.5(DIAPH1):c.12C>T (p.Pro4=)
NM_005219.5(DIAPH1):c.1308A>G (p.Glu436=)
NM_005219.5(DIAPH1):c.1311T>C (p.Cys437=)
NM_005219.5(DIAPH1):c.132C>T (p.Leu44=)
NM_005219.5(DIAPH1):c.1341G>A (p.Gly447=)
NM_005219.5(DIAPH1):c.1359G>A (p.Lys453=) rs764490603
NM_005219.5(DIAPH1):c.1368C>T (p.His456=)
NM_005219.5(DIAPH1):c.1371C>T (p.Leu457=)
NM_005219.5(DIAPH1):c.1377T>A (p.Ile459=) rs1454630812
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.1397-9T>C
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.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.1462-15dup rs777822030
NM_005219.5(DIAPH1):c.1462-19T>G rs2154596349
NM_005219.5(DIAPH1):c.1488T>C (p.His496=) rs2154596345
NM_005219.5(DIAPH1):c.1494A>G (p.Leu498=)
NM_005219.5(DIAPH1):c.1509A>G (p.Lys503=) rs763833539
NM_005219.5(DIAPH1):c.1523A>G (p.Asp508Gly) rs373413837
NM_005219.5(DIAPH1):c.1530G>A (p.Glu510=)
NM_005219.5(DIAPH1):c.1539T>G (p.Leu513=)
NM_005219.5(DIAPH1):c.1567C>T (p.Leu523=)
NM_005219.5(DIAPH1):c.1569G>A (p.Leu523=)
NM_005219.5(DIAPH1):c.1590T>C (p.Ile530=) rs768960181
NM_005219.5(DIAPH1):c.1599G>A (p.Glu533=)
NM_005219.5(DIAPH1):c.1609C>T (p.Leu537=)
NM_005219.5(DIAPH1):c.1617A>G (p.Ala539=)
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.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.1650G>A (p.Lys550=)
NM_005219.5(DIAPH1):c.1689T>A (p.Ala563=)
NM_005219.5(DIAPH1):c.1737T>C (p.Arg579=)
NM_005219.5(DIAPH1):c.1737T>G (p.Arg579=)
NM_005219.5(DIAPH1):c.1755C>T (p.Ala585=) rs1470817454
NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val) rs189809247
NM_005219.5(DIAPH1):c.1788T>C (p.Ile596=)
NM_005219.5(DIAPH1):c.1806T>G (p.Pro602=) rs2154596309
NM_005219.5(DIAPH1):c.1821T>G (p.Thr607=) rs2154596306
NM_005219.5(DIAPH1):c.1821TCC[7] (p.Pro617_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.1830T>C (p.Pro610=)
NM_005219.5(DIAPH1):c.183G>A (p.Lys61=)
NM_005219.5(DIAPH1):c.1842T>G (p.Pro614=) rs71583653
NM_005219.5(DIAPH1):c.1854A>T (p.Pro618=) rs374236039
NM_005219.5(DIAPH1):c.1881C>T (p.Ile627=)
NM_005219.5(DIAPH1):c.189G>A (p.Lys63=) rs762043047
NM_005219.5(DIAPH1):c.1926C>T (p.Pro642=) rs1044362474
NM_005219.5(DIAPH1):c.1935G>A (p.Leu645=) rs2099895570
NM_005219.5(DIAPH1):c.1962C>G (p.Pro654=)
NM_005219.5(DIAPH1):c.198T>A (p.Ser66=)
NM_005219.5(DIAPH1):c.2005T>C (p.Leu669=) rs1554208002
NM_005219.5(DIAPH1):c.2007G>A (p.Leu669=)
NM_005219.5(DIAPH1):c.2010T>C (p.Pro670=) rs2154596297
NM_005219.5(DIAPH1):c.2025C>A (p.Ile675=)
NM_005219.5(DIAPH1):c.2028C>T (p.Pro676=) rs769801420
NM_005219.5(DIAPH1):c.2061C>T (p.Ile687=)
NM_005219.5(DIAPH1):c.2064C>A (p.Pro688=)
NM_005219.5(DIAPH1):c.2094T>A (p.Ala698=) rs1184461104
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.2133A>G (p.Ala711=) rs2154596282
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.2208T>C (p.Pro736=) rs2154596274
NM_005219.5(DIAPH1):c.2217T>G (p.Pro739=) rs2099895526
NM_005219.5(DIAPH1):c.2229C>G (p.Pro743=) rs1361779351
NM_005219.5(DIAPH1):c.2256A>T (p.Pro752=) rs1230613557
NM_005219.5(DIAPH1):c.2274T>G (p.Pro758=)
NM_005219.5(DIAPH1):c.228G>A (p.Gly76=)
NM_005219.5(DIAPH1):c.22C>T (p.Leu8=) rs371690742
NM_005219.5(DIAPH1):c.2337C>T (p.Leu779=) rs757635140
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.2367T>G (p.Ala789=)
NM_005219.5(DIAPH1):c.2370G>A (p.Glu790=) rs2099895259
NM_005219.5(DIAPH1):c.2373C>T (p.Asp791=) rs756608855
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.2448C>G (p.Thr816=)
NM_005219.5(DIAPH1):c.2454C>T (p.Thr818=)
NM_005219.5(DIAPH1):c.2460T>G (p.Ser820=)
NM_005219.5(DIAPH1):c.2469C>T (p.Thr823=) rs763532123
NM_005219.5(DIAPH1):c.2473+18T>C rs781448970
NM_005219.5(DIAPH1):c.2474-16C>T
NM_005219.5(DIAPH1):c.2474-20C>T
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.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.2502T>C (p.Gly834=) rs2099888712
NM_005219.5(DIAPH1):c.2511A>G (p.Glu837=)
NM_005219.5(DIAPH1):c.252G>A (p.Leu84=) rs2099897661
NM_005219.5(DIAPH1):c.2554T>C (p.Leu852=)
NM_005219.5(DIAPH1):c.255A>G (p.Gln85=)
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.258T>C (p.Asp86=)
NM_005219.5(DIAPH1):c.2604C>T (p.Arg868=)
NM_005219.5(DIAPH1):c.2640G>A (p.Glu880=) rs2099887901
NM_005219.5(DIAPH1):c.2649G>A (p.Glu883=) rs2154595020
NM_005219.5(DIAPH1):c.2676+12G>C
NM_005219.5(DIAPH1):c.2676+13G>T
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.2682C>T (p.Leu894=)
NM_005219.5(DIAPH1):c.2733G>A (p.Lys911=)
NM_005219.5(DIAPH1):c.2751G>T (p.Leu917=)
NM_005219.5(DIAPH1):c.2757G>A (p.Glu919=)
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.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.2808C>A (p.Arg936=)
NM_005219.5(DIAPH1):c.2811C>G (p.Leu937=) rs900280842
NM_005219.5(DIAPH1):c.2877T>G (p.Ser959=) rs1554201404
NM_005219.5(DIAPH1):c.2880C>T (p.Val960=)
NM_005219.5(DIAPH1):c.2928C>G (p.Leu976=)
NM_005219.5(DIAPH1):c.2931A>G (p.Leu977=) rs2154595002
NM_005219.5(DIAPH1):c.2940C>G (p.Thr980=)
NM_005219.5(DIAPH1):c.2949T>A (p.Val983=)
NM_005219.5(DIAPH1):c.2967T>C (p.Ala989=)
NM_005219.5(DIAPH1):c.2985T>C (p.Gly995=)
NM_005219.5(DIAPH1):c.2988T>A (p.Ala996=) rs2154594999
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.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.3018+11G>T
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.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.3081T>C (p.Cys1027=)
NM_005219.5(DIAPH1):c.3084G>A (p.Glu1028=)
NM_005219.5(DIAPH1):c.30C>T (p.Pro10=)
NM_005219.5(DIAPH1):c.3105C>T (p.Leu1035=)
NM_005219.5(DIAPH1):c.3126C>T (p.Ala1042=) rs899924262
NM_005219.5(DIAPH1):c.3132G>C (p.Val1044=) rs748218553
NM_005219.5(DIAPH1):c.3138A>G (p.Lys1046=)
NM_005219.5(DIAPH1):c.3145C>A (p.Arg1049=) rs863225243
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.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.3149-7_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.3168A>G (p.Gln1056=)
NM_005219.5(DIAPH1):c.3192A>G (p.Lys1064=)
NM_005219.5(DIAPH1):c.3231A>C (p.Pro1077=)
NM_005219.5(DIAPH1):c.3231A>G (p.Pro1077=)
NM_005219.5(DIAPH1):c.3273+11T>C rs2154594977
NM_005219.5(DIAPH1):c.3273+11T>G rs2154594977
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.3297A>G (p.Glu1099=)
NM_005219.5(DIAPH1):c.3330C>T (p.Asn1110=) rs2154594957
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.3438+14A>G
NM_005219.5(DIAPH1):c.3438+18G>T
NM_005219.5(DIAPH1):c.3438+8dup
NM_005219.5(DIAPH1):c.348G>A (p.Lys116=) rs2154596614
NM_005219.5(DIAPH1):c.3492A>G (p.Arg1164=)
NM_005219.5(DIAPH1):c.3504C>T (p.Ala1168=)
NM_005219.5(DIAPH1):c.3528G>C (p.Arg1176=) rs1008027878
NM_005219.5(DIAPH1):c.3529C>T (p.Leu1177=)
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+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.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.3633A>T (p.Ala1211=) rs2154594917
NM_005219.5(DIAPH1):c.3645G>A (p.Lys1215=)
NM_005219.5(DIAPH1):c.3651G>A (p.Gly1217=)
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.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.3662-6T>C rs2154594799
NM_005219.5(DIAPH1):c.3662-9C>G
NM_005219.5(DIAPH1):c.3678G>A (p.Gly1226=)
NM_005219.5(DIAPH1):c.3690A>T (p.Thr1230=) rs1596330582
NM_005219.5(DIAPH1):c.3693T>C (p.Ser1231=)
NM_005219.5(DIAPH1):c.36C>T (p.Arg12=)
NM_005219.5(DIAPH1):c.3711G>A (p.Leu1237=)
NM_005219.5(DIAPH1):c.3726C>G (p.Ala1242=) rs1431294451
NM_005219.5(DIAPH1):c.3750G>A (p.Val1250=)
NM_005219.5(DIAPH1):c.3777A>G (p.Thr1259=) rs1596330487
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.3799T>C (p.Leu1267=)
NM_005219.5(DIAPH1):c.381A>G (p.Gln127=)
NM_005219.5(DIAPH1):c.402+14_402+33del rs777383591
NM_005219.5(DIAPH1):c.402+17G>C
NM_005219.5(DIAPH1):c.402+20C>T
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.423C>T (p.Ser141=)
NM_005219.5(DIAPH1):c.486C>G (p.Leu162=)
NM_005219.5(DIAPH1):c.486C>T (p.Leu162=)
NM_005219.5(DIAPH1):c.501C>T (p.Ser167=)
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.543A>G (p.Gln181=)
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.574T>C (p.Leu192=) rs1441409023
NM_005219.5(DIAPH1):c.60C>G (p.Gly20=)
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.621-9T>C rs761138352
NM_005219.5(DIAPH1):c.666A>G (p.Lys222=)
NM_005219.5(DIAPH1):c.669T>C (p.Ala223=)
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.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.708G>A (p.Glu236=)
NM_005219.5(DIAPH1):c.711A>G (p.Thr237=) rs2099896653
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.735C>T (p.Val245=) rs771150697
NM_005219.5(DIAPH1):c.741C>G (p.Ala247=)
NM_005219.5(DIAPH1):c.753T>A (p.Ala251=)
NM_005219.5(DIAPH1):c.759C>T (p.Pro253=) rs2154596505
NM_005219.5(DIAPH1):c.792T>C (p.Ser264=)
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.846A>G (p.Ala282=)
NM_005219.5(DIAPH1):c.892C>T (p.Leu298=)
NM_005219.5(DIAPH1):c.895C>T (p.Leu299=)
NM_005219.5(DIAPH1):c.904T>C (p.Leu302=)
NM_005219.5(DIAPH1):c.915A>G (p.Gly305=)
NM_005219.5(DIAPH1):c.918C>T (p.Thr306=)
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.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.96C>T (p.Asp32=)
NM_005219.5(DIAPH1):c.978G>A (p.Glu326=)
NM_005219.5(DIAPH1):c.990C>T (p.Phe330=) rs1303310814
NM_005219.5(DIAPH1):c.999C>T (p.His333=) rs2099896284
NM_005219.5(DIAPH1):c.9G>C (p.Pro3=) rs1277870477

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