ClinVar Miner

List of variants in gene DIAPH1 studied for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 389
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HGVS dbSNP
NC_000005.10:g.(?_141516831)_(141618934_?)del
NM_005219.4(DIAPH1):c.3439-3del rs1335130331
NM_005219.5(DIAPH1):c.*1006T>C rs886060029
NM_005219.5(DIAPH1):c.*1041G>A rs6892185
NM_005219.5(DIAPH1):c.*1304A>G rs112580910
NM_005219.5(DIAPH1):c.*1309A>T
NM_005219.5(DIAPH1):c.*1322C>G rs530260919
NM_005219.5(DIAPH1):c.*1337C>T rs886060028
NM_005219.5(DIAPH1):c.*1347C>G rs251020
NM_005219.5(DIAPH1):c.*1364T>C rs116342492
NM_005219.5(DIAPH1):c.*1395C>T rs886060027
NM_005219.5(DIAPH1):c.*1444T>G rs886060026
NM_005219.5(DIAPH1):c.*1533C>T
NM_005219.5(DIAPH1):c.*1544A>G rs886060025
NM_005219.5(DIAPH1):c.*1557C>T rs566532178
NM_005219.5(DIAPH1):c.*1597G>A rs76801798
NM_005219.5(DIAPH1):c.*1607C>T rs527786719
NM_005219.5(DIAPH1):c.*1637G>C rs531768148
NM_005219.5(DIAPH1):c.*1654C>G rs886060024
NM_005219.5(DIAPH1):c.*16C>T rs202086273
NM_005219.5(DIAPH1):c.*217C>T rs55934506
NM_005219.5(DIAPH1):c.*224G>A
NM_005219.5(DIAPH1):c.*236T>C rs774939804
NM_005219.5(DIAPH1):c.*254G>A rs771538799
NM_005219.5(DIAPH1):c.*325G>C
NM_005219.5(DIAPH1):c.*332T>G
NM_005219.5(DIAPH1):c.*367C>G rs148686869
NM_005219.5(DIAPH1):c.*39G>A rs375612034
NM_005219.5(DIAPH1):c.*521G>A
NM_005219.5(DIAPH1):c.*533G>A rs886060031
NM_005219.5(DIAPH1):c.*618G>C rs144081334
NM_005219.5(DIAPH1):c.*644C>T
NM_005219.5(DIAPH1):c.*701T>C rs886060030
NM_005219.5(DIAPH1):c.*709C>T rs186922755
NM_005219.5(DIAPH1):c.*724C>T
NM_005219.5(DIAPH1):c.*734C>T rs557696634
NM_005219.5(DIAPH1):c.*755T>C rs561468918
NM_005219.5(DIAPH1):c.*811A>C
NM_005219.5(DIAPH1):c.*867G>A
NM_005219.5(DIAPH1):c.*870G>A
NM_005219.5(DIAPH1):c.*88C>T
NM_005219.5(DIAPH1):c.*933T>A rs55798800
NM_005219.5(DIAPH1):c.-22G>T rs530831319
NM_005219.5(DIAPH1):c.-27G>T rs749524827
NM_005219.5(DIAPH1):c.-28G>C rs573787753
NM_005219.5(DIAPH1):c.-49A>C rs570498572
NM_005219.5(DIAPH1):c.-82G>A rs886060035
NM_005219.5(DIAPH1):c.-85A>G rs886060036
NM_005219.5(DIAPH1):c.1002C>T (p.Ile334=) rs748386464
NM_005219.5(DIAPH1):c.1004G>T (p.Arg335Ile)
NM_005219.5(DIAPH1):c.1026G>C (p.Gly342=)
NM_005219.5(DIAPH1):c.1044+15T>C
NM_005219.5(DIAPH1):c.1044+9T>C rs1363077545
NM_005219.5(DIAPH1):c.1045-11G>A
NM_005219.5(DIAPH1):c.1045-20T>A
NM_005219.5(DIAPH1):c.1045-9T>G
NM_005219.5(DIAPH1):c.1073T>C (p.Met358Thr)
NM_005219.5(DIAPH1):c.108dup (p.Lys37Ter)
NM_005219.5(DIAPH1):c.1107G>A (p.Gly369=) rs753420499
NM_005219.5(DIAPH1):c.1122T>C (p.Tyr374=)
NM_005219.5(DIAPH1):c.1137_1138delinsTT (p.Arg379_Leu380=)
NM_005219.5(DIAPH1):c.1151G>T (p.Arg384Leu) rs200927557
NM_005219.5(DIAPH1):c.1164-3C>A
NM_005219.5(DIAPH1):c.117+10C>T
NM_005219.5(DIAPH1):c.117+14C>T rs2074913
NM_005219.5(DIAPH1):c.117+9C>T rs528279050
NM_005219.5(DIAPH1):c.118-9G>A rs1346309649
NM_005219.5(DIAPH1):c.118-9G>C
NM_005219.5(DIAPH1):c.1248C>G (p.His416Gln)
NM_005219.5(DIAPH1):c.1269C>G (p.Asp423Glu) rs367981585
NM_005219.5(DIAPH1):c.1280+3A>G rs747583916
NM_005219.5(DIAPH1):c.1280+7T>C
NM_005219.5(DIAPH1):c.1338C>T (p.Asn446=) rs746584977
NM_005219.5(DIAPH1):c.1339G>A (p.Gly447Arg)
NM_005219.5(DIAPH1):c.1358A>G (p.Lys453Arg)
NM_005219.5(DIAPH1):c.1359G>A (p.Lys453=)
NM_005219.5(DIAPH1):c.1364G>A (p.Arg455Gln) rs200004048
NM_005219.5(DIAPH1):c.1396+9A>G
NM_005219.5(DIAPH1):c.1397-14CTT[2] rs771642064
NM_005219.5(DIAPH1):c.13G>A (p.Gly5Ser)
NM_005219.5(DIAPH1):c.1407T>C (p.Ile469=) rs75860159
NM_005219.5(DIAPH1):c.1409A>G (p.Asp470Gly) rs1596381822
NM_005219.5(DIAPH1):c.1423G>A (p.Glu475Lys) rs193036129
NM_005219.5(DIAPH1):c.145-1G>A
NM_005219.5(DIAPH1):c.145-5C>A rs1596392507
NM_005219.5(DIAPH1):c.1461+20G>A rs2302103
NM_005219.5(DIAPH1):c.1461+20_1461+21delinsAG
NM_005219.5(DIAPH1):c.1462-14C>T
NM_005219.5(DIAPH1):c.1498G>A (p.Val500Met)
NM_005219.5(DIAPH1):c.1509A>G (p.Lys503=)
NM_005219.5(DIAPH1):c.1523A>G (p.Asp508Gly) rs373413837
NM_005219.5(DIAPH1):c.152G>C (p.Arg51Thr)
NM_005219.5(DIAPH1):c.1531C>A (p.Gln511Lys)
NM_005219.5(DIAPH1):c.1542A>G (p.Gln514=)
NM_005219.5(DIAPH1):c.1543G>C (p.Asp515His)
NM_005219.5(DIAPH1):c.1549C>T (p.Gln517Ter)
NM_005219.5(DIAPH1):c.154T>C (p.Phe52Leu)
NM_005219.5(DIAPH1):c.1565C>T (p.Ala522Val) rs373896015
NM_005219.5(DIAPH1):c.1571A>T (p.His524Leu) rs369527502
NM_005219.5(DIAPH1):c.1577A>G (p.Glu526Gly)
NM_005219.5(DIAPH1):c.1594A>G (p.Thr532Ala)
NM_005219.5(DIAPH1):c.1595C>T (p.Thr532Ile)
NM_005219.5(DIAPH1):c.1601A>G (p.Lys534Arg)
NM_005219.5(DIAPH1):c.1639G>C (p.Glu547Gln) rs1317819365
NM_005219.5(DIAPH1):c.1641G>A (p.Glu547=)
NM_005219.5(DIAPH1):c.1648A>C (p.Lys550Gln)
NM_005219.5(DIAPH1):c.1653G>C (p.Leu551=) rs746419756
NM_005219.5(DIAPH1):c.1659G>A (p.Lys553=) rs200506473
NM_005219.5(DIAPH1):c.1666G>C (p.Glu556Gln)
NM_005219.5(DIAPH1):c.169A>G (p.Ile57Val)
NM_005219.5(DIAPH1):c.1701G>A (p.Ala567=)
NM_005219.5(DIAPH1):c.1713T>C (p.Thr571=) rs369024454
NM_005219.5(DIAPH1):c.1732A>G (p.Ser578Gly)
NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His) rs182139018
NM_005219.5(DIAPH1):c.1744G>C (p.Val582Leu) rs746371106
NM_005219.5(DIAPH1):c.1748C>G (p.Pro583Arg) rs201719002
NM_005219.5(DIAPH1):c.1753G>C (p.Ala585Pro) rs200973081
NM_005219.5(DIAPH1):c.1757C>T (p.Pro586Leu)
NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val) rs189809247
NM_005219.5(DIAPH1):c.1784T>C (p.Ile595Thr) rs374299911
NM_005219.5(DIAPH1):c.1796C>T (p.Pro599Leu)
NM_005219.5(DIAPH1):c.1820C>T (p.Thr607Ile)
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)
NM_005219.5(DIAPH1):c.1821TCC[16] (p.Pro616_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[17] (p.Pro615_Pro620dup)
NM_005219.5(DIAPH1):c.1821TCC[18] (p.Pro614_Pro620dup)
NM_005219.5(DIAPH1):c.1821TCC[6] (p.Pro616_Pro620del)
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.1835C>T (p.Pro612Leu)
NM_005219.5(DIAPH1):c.1838dup (p.Pro614fs)
NM_005219.5(DIAPH1):c.1848_1862del (p.Pro618_Pro622del) rs1562320961
NM_005219.5(DIAPH1):c.1852_1860dup (p.Pro618_Pro620dup) rs1562320985
NM_005219.5(DIAPH1):c.1854_1859dup (p.Pro619_Pro620dup)
NM_005219.5(DIAPH1):c.1859C>T (p.Pro620Leu) rs774876990
NM_005219.5(DIAPH1):c.189G>A (p.Lys63=)
NM_005219.5(DIAPH1):c.1926C>T (p.Pro642=) rs1044362474
NM_005219.5(DIAPH1):c.1943A>G (p.Asp648Gly) rs886060032
NM_005219.5(DIAPH1):c.194A>G (p.Asn65Ser)
NM_005219.5(DIAPH1):c.1963C>G (p.Pro655Ala)
NM_005219.5(DIAPH1):c.1964C>A (p.Pro655His) rs367669306
NM_005219.5(DIAPH1):c.1964C>G (p.Pro655Arg) rs367669306
NM_005219.5(DIAPH1):c.1985G>A (p.Gly662Asp) rs200735096
NM_005219.5(DIAPH1):c.1991C>G (p.Pro664Arg)
NM_005219.5(DIAPH1):c.2005T>C (p.Leu669=) rs1554208002
NM_005219.5(DIAPH1):c.2007G>T (p.Leu669Phe) rs1284785470
NM_005219.5(DIAPH1):c.2009C>T (p.Pro670Leu) rs751847293
NM_005219.5(DIAPH1):c.200C>T (p.Ala67Val) rs142480526
NM_005219.5(DIAPH1):c.2011G>A (p.Gly671Arg) rs766804741
NM_005219.5(DIAPH1):c.2028C>T (p.Pro676=)
NM_005219.5(DIAPH1):c.2030C>A (p.Pro677Gln)
NM_005219.5(DIAPH1):c.2032C>T (p.Pro678Ser) rs186370335
NM_005219.5(DIAPH1):c.2036C>T (p.Pro679Leu)
NM_005219.5(DIAPH1):c.2063C>T (p.Pro688Leu)
NM_005219.5(DIAPH1):c.2067_2105del (p.Ser697_Gly709del)
NM_005219.5(DIAPH1):c.2070A>C (p.Pro690=)
NM_005219.5(DIAPH1):c.2071C>T (p.Pro691Ser)
NM_005219.5(DIAPH1):c.2079T>C (p.Pro693=) rs745739994
NM_005219.5(DIAPH1):c.2082G>T (p.Leu694Phe) rs778995744
NM_005219.5(DIAPH1):c.2094T>A (p.Ala698=)
NM_005219.5(DIAPH1):c.2099T>A (p.Ile700Asn) rs199830182
NM_005219.5(DIAPH1):c.2099T>C (p.Ile700Thr)
NM_005219.5(DIAPH1):c.2101C>A (p.Pro701Thr)
NM_005219.5(DIAPH1):c.2107C>G (p.Pro703Ala) rs201433617
NM_005219.5(DIAPH1):c.2107C>T (p.Pro703Ser) rs201433617
NM_005219.5(DIAPH1):c.2108C>G (p.Pro703Arg)
NM_005219.5(DIAPH1):c.2108C>T (p.Pro703Leu)
NM_005219.5(DIAPH1):c.2111C>T (p.Pro704Leu)
NM_005219.5(DIAPH1):c.2133A>G (p.Ala711=)
NM_005219.5(DIAPH1):c.2137A>G (p.Met713Val) rs764305772
NM_005219.5(DIAPH1):c.2141C>T (p.Pro714Leu) rs760797227
NM_005219.5(DIAPH1):c.2149C>T (p.Pro717Ser)
NM_005219.5(DIAPH1):c.2156C>G (p.Pro719Arg)
NM_005219.5(DIAPH1):c.2158C>T (p.Leu720Phe) rs200606811
NM_005219.5(DIAPH1):c.2162C>A (p.Pro721His) rs373520931
NM_005219.5(DIAPH1):c.217G>A (p.Ala73Thr) rs184081055
NM_005219.5(DIAPH1):c.2199C>T (p.Pro733=)
NM_005219.5(DIAPH1):c.2200G>A (p.Gly734Arg) rs374788809
NM_005219.5(DIAPH1):c.2224C>G (p.Pro742Ala) rs199749212
NM_005219.5(DIAPH1):c.2229C>G (p.Pro743=) rs1361779351
NM_005219.5(DIAPH1):c.2229C>T (p.Pro743=)
NM_005219.5(DIAPH1):c.2261G>A (p.Gly754Glu)
NM_005219.5(DIAPH1):c.2273C>T (p.Pro758Leu) rs762969077
NM_005219.5(DIAPH1):c.22C>T (p.Leu8=)
NM_005219.5(DIAPH1):c.2307del (p.Lys771fs) rs1562319896
NM_005219.5(DIAPH1):c.230A>G (p.Asp77Gly)
NM_005219.5(DIAPH1):c.2328G>A (p.Glu776=)
NM_005219.5(DIAPH1):c.2333A>G (p.Gln778Arg) rs369255077
NM_005219.5(DIAPH1):c.2337C>T (p.Leu779=)
NM_005219.5(DIAPH1):c.234T>G (p.Asp78Glu) rs1292590118
NM_005219.5(DIAPH1):c.2354C>T (p.Ser785Phe) rs532205362
NM_005219.5(DIAPH1):c.2358+15C>G rs375375478
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.2370G>A (p.Glu790=)
NM_005219.5(DIAPH1):c.2401G>C (p.Val801Leu)
NM_005219.5(DIAPH1):c.2410G>A (p.Asp804Asn)
NM_005219.5(DIAPH1):c.2424C>A (p.Asn808Lys) rs766731479
NM_005219.5(DIAPH1):c.2427T>C (p.Asn809=) rs372347802
NM_005219.5(DIAPH1):c.2436C>T (p.Phe812=)
NM_005219.5(DIAPH1):c.2437G>A (p.Ala813Thr) rs147203145
NM_005219.5(DIAPH1):c.2463C>G (p.Ala821=)
NM_005219.5(DIAPH1):c.2469C>T (p.Thr823=)
NM_005219.5(DIAPH1):c.2473+9C>T rs370441015
NM_005219.5(DIAPH1):c.2474-11T>C
NM_005219.5(DIAPH1):c.2525A>C (p.Gln842Pro) rs200220260
NM_005219.5(DIAPH1):c.252G>A (p.Leu84=)
NM_005219.5(DIAPH1):c.2540_2541del (p.Lys847fs)
NM_005219.5(DIAPH1):c.2545T>A (p.Leu849Ile)
NM_005219.5(DIAPH1):c.2577T>G (p.Asn859Lys)
NM_005219.5(DIAPH1):c.2597C>T (p.Ser866Phe)
NM_005219.5(DIAPH1):c.259G>A (p.Val87Ile) rs368889655
NM_005219.5(DIAPH1):c.2602C>T (p.Arg868Cys) rs1554201531
NM_005219.5(DIAPH1):c.2627A>C (p.Asn876Thr)
NM_005219.5(DIAPH1):c.2668A>G (p.Met890Val) rs200251893
NM_005219.5(DIAPH1):c.2672T>C (p.Ile891Thr) rs727502961
NM_005219.5(DIAPH1):c.2733G>T (p.Lys911Asn)
NM_005219.5(DIAPH1):c.2758T>C (p.Ser920Pro) rs746418816
NM_005219.5(DIAPH1):c.2772C>T (p.Gly924=) rs779376542
NM_005219.5(DIAPH1):c.2778+10G>A rs374601448
NM_005219.5(DIAPH1):c.2779-6del rs1431116673
NM_005219.5(DIAPH1):c.2779A>G (p.Met927Val)
NM_005219.5(DIAPH1):c.2795G>A (p.Arg932Gln)
NM_005219.5(DIAPH1):c.2800C>T (p.Arg934Trp) rs200688040
NM_005219.5(DIAPH1):c.2806C>T (p.Arg936Cys)
NM_005219.5(DIAPH1):c.2811C>G (p.Leu937=)
NM_005219.5(DIAPH1):c.2813A>G (p.Asn938Ser)
NM_005219.5(DIAPH1):c.2816C>T (p.Ala939Val)
NM_005219.5(DIAPH1):c.2818A>G (p.Ile940Val)
NM_005219.5(DIAPH1):c.2841C>T (p.Ser947=) rs760850451
NM_005219.5(DIAPH1):c.2846A>G (p.Gln949Arg)
NM_005219.5(DIAPH1):c.2850G>A (p.Val950=)
NM_005219.5(DIAPH1):c.2877T>G (p.Ser959=) rs1554201404
NM_005219.5(DIAPH1):c.2878G>A (p.Val960Ile)
NM_005219.5(DIAPH1):c.2886T>C (p.Ala962=) rs750444501
NM_005219.5(DIAPH1):c.2889A>G (p.Ala963=) rs770304914
NM_005219.5(DIAPH1):c.2902C>T (p.Arg968Cys) rs777195456
NM_005219.5(DIAPH1):c.2903G>A (p.Arg968His)
NM_005219.5(DIAPH1):c.2944C>T (p.Leu982Phe) rs1431409262
NM_005219.5(DIAPH1):c.2945T>G (p.Leu982Arg) rs1596339533
NM_005219.5(DIAPH1):c.2982T>C (p.Ala994=)
NM_005219.5(DIAPH1):c.29C>G (p.Pro10Arg)
NM_005219.5(DIAPH1):c.300+12A>G rs201535699
NM_005219.5(DIAPH1):c.3003C>G (p.Ile1001Met) rs1554201371
NM_005219.5(DIAPH1):c.300G>C (p.Leu100=)
NM_005219.5(DIAPH1):c.301-5C>T rs190481949
NM_005219.5(DIAPH1):c.3019-8T>C rs749822608
NM_005219.5(DIAPH1):c.3022C>T (p.Arg1008Ter)
NM_005219.5(DIAPH1):c.3023G>A (p.Arg1008Gln)
NM_005219.5(DIAPH1):c.3050T>C (p.Met1017Thr) rs376220834
NM_005219.5(DIAPH1):c.3051G>A (p.Met1017Ile) rs373275414
NM_005219.5(DIAPH1):c.3054G>A (p.Thr1018=) rs727502960
NM_005219.5(DIAPH1):c.3060A>G (p.Leu1020=)
NM_005219.5(DIAPH1):c.307A>G (p.Met103Val)
NM_005219.5(DIAPH1):c.3096C>T (p.Pro1032=) rs369299884
NM_005219.5(DIAPH1):c.3097G>A (p.Asp1033Asn) rs1303934222
NM_005219.5(DIAPH1):c.3099T>C (p.Asp1033=) rs727504838
NM_005219.5(DIAPH1):c.3126C>T (p.Ala1042=) rs899924262
NM_005219.5(DIAPH1):c.3130G>C (p.Val1044Leu)
NM_005219.5(DIAPH1):c.3145C>A (p.Arg1049=)
NM_005219.5(DIAPH1):c.3149-7_3149-6insG
NM_005219.5(DIAPH1):c.3152C>T (p.Ser1051Phe) rs868531732
NM_005219.5(DIAPH1):c.3157G>A (p.Glu1053Lys) rs1003389476
NM_005219.5(DIAPH1):c.3157G>T (p.Glu1053Ter) rs1003389476
NM_005219.5(DIAPH1):c.3162C>A (p.Asn1054Lys)
NM_005219.5(DIAPH1):c.3175C>G (p.Leu1059Val) rs200394036
NM_005219.5(DIAPH1):c.3195A>G (p.Gln1065=) rs753783398
NM_005219.5(DIAPH1):c.3206_3207insTTC (p.Glu1070_Arg1071insSer)
NM_005219.5(DIAPH1):c.3217_3219dup (p.Val1073dup)
NM_005219.5(DIAPH1):c.3219T>G (p.Val1073=)
NM_005219.5(DIAPH1):c.3227T>G (p.Phe1076Cys) rs143763573
NM_005219.5(DIAPH1):c.3230C>G (p.Pro1077Arg) rs376593325
NM_005219.5(DIAPH1):c.3268dup (p.Met1090fs) rs1235751512
NM_005219.5(DIAPH1):c.3273+8C>G
NM_005219.5(DIAPH1):c.3276C>T (p.Ser1092=)
NM_005219.5(DIAPH1):c.3292C>A (p.Gln1098Lys)
NM_005219.5(DIAPH1):c.3313C>T (p.Arg1105Trp) rs781577050
NM_005219.5(DIAPH1):c.3314G>A (p.Arg1105Gln)
NM_005219.5(DIAPH1):c.3318G>A (p.Met1106Ile) rs1596337513
NM_005219.5(DIAPH1):c.3322C>T (p.His1108Tyr) rs749063652
NM_005219.5(DIAPH1):c.3357C>A (p.Gly1119=)
NM_005219.5(DIAPH1):c.3358G>A (p.Glu1120Lys) rs756003432
NM_005219.5(DIAPH1):c.3360G>A (p.Glu1120=) rs727504670
NM_005219.5(DIAPH1):c.3374A>G (p.Asp1125Gly)
NM_005219.5(DIAPH1):c.3406A>T (p.Met1136Leu) rs1554200929
NM_005219.5(DIAPH1):c.3425G>A (p.Arg1142Gln)
NM_005219.5(DIAPH1):c.3439-5C>T rs768948411
NM_005219.5(DIAPH1):c.343G>A (p.Glu115Lys) rs371994484
NM_005219.5(DIAPH1):c.3450G>A (p.Lys1150=)
NM_005219.5(DIAPH1):c.3463C>T (p.Arg1155Trp) rs369467830
NM_005219.5(DIAPH1):c.3465G>A (p.Arg1155=)
NM_005219.5(DIAPH1):c.3467G>C (p.Arg1156Pro)
NM_005219.5(DIAPH1):c.3486G>A (p.Met1162Ile) rs747116749
NM_005219.5(DIAPH1):c.3486G>C (p.Met1162Ile)
NM_005219.5(DIAPH1):c.3528G>C (p.Arg1176=)
NM_005219.5(DIAPH1):c.3552G>A (p.Glu1184=)
NM_005219.5(DIAPH1):c.3570T>C (p.Asn1190=) rs1596337059
NM_005219.5(DIAPH1):c.3574+10G>A
NM_005219.5(DIAPH1):c.3574+6G>C rs538555634
NM_005219.5(DIAPH1):c.3574+8G>C
NM_005219.5(DIAPH1):c.3575-6T>A
NM_005219.5(DIAPH1):c.3579C>T (p.Gly1193=) rs2302102
NM_005219.5(DIAPH1):c.3624_3625del (p.Ala1210fs) rs1064797096
NM_005219.5(DIAPH1):c.3629_3630del (p.Ala1210fs) rs1596335566
NM_005219.5(DIAPH1):c.3637C>T (p.Arg1213Ter) rs876657776
NM_005219.5(DIAPH1):c.3638G>A (p.Arg1213Gln)
NM_005219.5(DIAPH1):c.3641G>A (p.Arg1214Gln)
NM_005219.5(DIAPH1):c.3644A>G (p.Lys1215Arg)
NM_005219.5(DIAPH1):c.3661+1G>T rs1476157529
NM_005219.5(DIAPH1):c.3661+8A>G
NM_005219.5(DIAPH1):c.3662-4G>A rs756395607
NM_005219.5(DIAPH1):c.3665A>G (p.Asn1222Ser)
NM_005219.5(DIAPH1):c.3671A>G (p.Lys1224Arg)
NM_005219.5(DIAPH1):c.3675C>T (p.Ala1225=) rs371385202
NM_005219.5(DIAPH1):c.3677G>A (p.Gly1226Glu)
NM_005219.5(DIAPH1):c.3679T>C (p.Cys1227Arg)
NM_005219.5(DIAPH1):c.3690A>T (p.Thr1230=) rs1596330582
NM_005219.5(DIAPH1):c.3701C>T (p.Ala1234Val) rs764739820
NM_005219.5(DIAPH1):c.3727A>G (p.Met1243Val) rs1554199642
NM_005219.5(DIAPH1):c.3736G>T (p.Val1246Phe)
NM_005219.5(DIAPH1):c.3758A>G (p.Asn1253Ser)
NM_005219.5(DIAPH1):c.3764A>G (p.Glu1255Gly)
NM_005219.5(DIAPH1):c.3765G>A (p.Glu1255=) rs35755269
NM_005219.5(DIAPH1):c.3767C>T (p.Thr1256Ile) rs546064158
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=)
NM_005219.5(DIAPH1):c.3809G>A (p.Arg1270His) rs371664456
NM_005219.5(DIAPH1):c.3809G>T (p.Arg1270Leu)
NM_005219.5(DIAPH1):c.3811G>T (p.Ala1271Ser) rs1167599945
NM_005219.5(DIAPH1):c.390C>T (p.Tyr130=) rs34296458
NM_005219.5(DIAPH1):c.402+12del rs555848272
NM_005219.5(DIAPH1):c.402+8C>T
NM_005219.5(DIAPH1):c.413A>G (p.Gln138Arg)
NM_005219.5(DIAPH1):c.42C>G (p.Thr14=)
NM_005219.5(DIAPH1):c.44G>A (p.Arg15Gln) rs1596422064
NM_005219.5(DIAPH1):c.453G>A (p.Glu151=) rs749681806
NM_005219.5(DIAPH1):c.50A>G (p.Lys17Arg)
NM_005219.5(DIAPH1):c.556G>C (p.Glu186Gln) rs1440102285
NM_005219.5(DIAPH1):c.579C>T (p.Asp193=) rs202061556
NM_005219.5(DIAPH1):c.582T>C (p.Ile194=)
NM_005219.5(DIAPH1):c.616G>A (p.Ala206Thr)
NM_005219.5(DIAPH1):c.620+8C>G rs759235916
NM_005219.5(DIAPH1):c.621-19T>C
NM_005219.5(DIAPH1):c.621-4A>G
NM_005219.5(DIAPH1):c.621-8A>G rs1393894659
NM_005219.5(DIAPH1):c.627C>T (p.Tyr209=) rs369494682
NM_005219.5(DIAPH1):c.628G>A (p.Asp210Asn)
NM_005219.5(DIAPH1):c.65G>A (p.Ser22Asn)
NM_005219.5(DIAPH1):c.665A>G (p.Lys222Arg)
NM_005219.5(DIAPH1):c.66C>G (p.Ser22Arg)
NM_005219.5(DIAPH1):c.677A>G (p.Asn226Ser)
NM_005219.5(DIAPH1):c.685-5A>G rs367786290
NM_005219.5(DIAPH1):c.685-8_685-6del rs773403319
NM_005219.5(DIAPH1):c.687T>C (p.Phe229=) rs201149420
NM_005219.5(DIAPH1):c.724C>G (p.Leu242Val) rs766359994
NM_005219.5(DIAPH1):c.727C>T (p.Leu243=)
NM_005219.5(DIAPH1):c.735C>T (p.Val245=)
NM_005219.5(DIAPH1):c.75G>A (p.Glu25=)
NM_005219.5(DIAPH1):c.767T>C (p.Met256Thr)
NM_005219.5(DIAPH1):c.770T>C (p.Ile257Thr)
NM_005219.5(DIAPH1):c.789T>C (p.Leu263=) rs886060034
NM_005219.5(DIAPH1):c.80C>T (p.Pro27Leu)
NM_005219.5(DIAPH1):c.810G>A (p.Pro270=) rs745385668
NM_005219.5(DIAPH1):c.818A>G (p.Glu273Gly)
NM_005219.5(DIAPH1):c.825-20G>C
NM_005219.5(DIAPH1):c.825-3C>T
NM_005219.5(DIAPH1):c.825G>A (p.Met275Ile)
NM_005219.5(DIAPH1):c.83C>G (p.Ser28Trp)
NM_005219.5(DIAPH1):c.840G>A (p.Leu280=)
NM_005219.5(DIAPH1):c.863A>G (p.Glu288Gly)
NM_005219.5(DIAPH1):c.882T>A (p.Arg294=) rs757469488
NM_005219.5(DIAPH1):c.88G>A (p.Gly30Ser)
NM_005219.5(DIAPH1):c.88G>T (p.Gly30Cys)
NM_005219.5(DIAPH1):c.891G>A (p.Pro297=) rs116463365
NM_005219.5(DIAPH1):c.930G>A (p.Leu310=)
NM_005219.5(DIAPH1):c.933+12C>T
NM_005219.5(DIAPH1):c.933+5G>A
NM_005219.5(DIAPH1):c.934-3T>G rs886060033
NM_005219.5(DIAPH1):c.941G>C (p.Cys314Ser)
NM_005219.5(DIAPH1):c.946C>G (p.Gln316Glu)
NM_005219.5(DIAPH1):c.969A>G (p.Thr323=) rs369453319
NM_005219.5(DIAPH1):c.970C>A (p.Pro324Thr)
NM_005219.5(DIAPH1):c.981A>G (p.Glu327=)

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