ClinVar Miner

List of variants reported as uncertain significance for auditory system disorder by Invitae

Included ClinVar conditions (325):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1187
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HGVS dbSNP gnomAD frequency
NM_016356.5(DCDC2):c.1423G>A (p.Val475Met) rs145154884 0.00062
NM_005219.5(DIAPH1):c.1748C>G (p.Pro583Arg) rs201719002 0.00055
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.2224C>G (p.Pro742Ala) rs199749212 0.00036
NM_005219.5(DIAPH1):c.1784T>C (p.Ile595Thr) rs374299911 0.00033
NM_001110219.3(GJB6):c.212T>C (p.Val71Ala) rs200172266 0.00032
NM_005982.4(SIX1):c.578A>T (p.Asn193Ile) rs142301715 0.00032
NM_001110219.3(GJB6):c.680C>T (p.Thr227Met) rs199790650 0.00022
NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His) rs199700840 0.00022
NM_001199107.2(TBC1D24):c.217G>A (p.Val73Met) rs370078844 0.00021
NM_005982.4(SIX1):c.679G>T (p.Asp227Tyr) rs144481204 0.00018
NM_005219.5(DIAPH1):c.343G>A (p.Glu115Lys) rs371994484 0.00017
NM_001199107.2(TBC1D24):c.340G>A (p.Val114Met) rs368575199 0.00016
NM_005219.5(DIAPH1):c.1269C>G (p.Asp423Glu) rs367981585 0.00016
NM_016356.5(DCDC2):c.1066G>A (p.Ala356Thr) rs183480366 0.00016
NM_005219.5(DIAPH1):c.2107C>G (p.Pro703Ala) rs201433617 0.00015
NM_001110219.3(GJB6):c.781A>G (p.Ser261Gly) rs143962007 0.00014
NM_005219.5(DIAPH1):c.2846A>G (p.Gln949Arg) rs775424355 0.00014
NM_005219.5(DIAPH1):c.3230C>G (p.Pro1077Arg) rs376593325 0.00013
NM_001199107.2(TBC1D24):c.871G>A (p.Ala291Thr) rs375307187 0.00011
NM_005219.5(DIAPH1):c.259G>A (p.Val87Ile) rs368889655 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_016356.5(DCDC2):c.785C>T (p.Thr262Ile) rs200534758 0.00011
NM_005219.5(DIAPH1):c.3574+6G>C rs538555634 0.00010
NM_016356.5(DCDC2):c.770G>A (p.Arg257His) rs200233521 0.00010
NM_001110219.3(GJB6):c.631T>G (p.Cys211Gly) rs141752846 0.00009
NM_001199107.2(TBC1D24):c.1456C>T (p.Arg486Cys) rs750028854 0.00009
NM_005219.5(DIAPH1):c.1093T>C (p.Phe365Leu) rs750318437 0.00009
NM_005219.5(DIAPH1):c.3051G>A (p.Met1017Ile) rs373275414 0.00009
NM_001199107.2(TBC1D24):c.343C>T (p.Arg115Cys) rs372531999 0.00008
NM_005219.5(DIAPH1):c.1565C>T (p.Ala522Val) rs373896015 0.00008
NM_005219.5(DIAPH1):c.1571A>T (p.His524Leu) rs369527502 0.00008
NM_005219.5(DIAPH1):c.2036C>T (p.Pro679Leu) rs768743097 0.00008
NM_001199107.2(TBC1D24):c.439G>A (p.Asp147Asn) rs267607103 0.00007
NM_005219.5(DIAPH1):c.1700C>T (p.Ala567Val) rs752510907 0.00007
NM_005219.5(DIAPH1):c.2902C>T (p.Arg968Cys) rs777195456 0.00007
NM_001110219.3(GJB6):c.119C>T (p.Ala40Val) rs780320724 0.00006
NM_001110219.3(GJB6):c.518C>T (p.Pro173Leu) rs200480676 0.00006
NM_001199107.2(TBC1D24):c.1039G>A (p.Val347Met) rs371031447 0.00006
NM_001199107.2(TBC1D24):c.1453G>A (p.Ala485Thr) rs774586263 0.00006
NM_001199107.2(TBC1D24):c.1525+6C>T rs758013935 0.00006
NM_001199107.2(TBC1D24):c.601G>A (p.Val201Met) rs537705878 0.00006
NM_005219.5(DIAPH1):c.1364G>A (p.Arg455Gln) rs200004048 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.80C>T (p.Pro27Leu) rs774909066 0.00006
NM_016356.5(DCDC2):c.355C>T (p.Pro119Ser) rs1056029060 0.00006
NM_001199107.2(TBC1D24):c.592A>T (p.Met198Leu) rs779920318 0.00005
NM_001199107.2(TBC1D24):c.793G>A (p.Val265Met) rs772768393 0.00005
NM_005219.5(DIAPH1):c.1213A>G (p.Lys405Glu) rs551450387 0.00005
NM_005219.5(DIAPH1):c.1577A>G (p.Glu526Gly) rs187899184 0.00005
NM_005219.5(DIAPH1):c.1753G>C (p.Ala585Pro) rs200973081 0.00005
NM_005219.5(DIAPH1):c.2668A>G (p.Met890Val) rs200251893 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.922A>G (p.Ile308Val) rs752555506 0.00005
NM_016356.5(DCDC2):c.349G>A (p.Val117Ile) rs781510673 0.00005
NM_016356.5(DCDC2):c.445C>T (p.Leu149Phe) rs200595563 0.00005
NM_001110219.3(GJB6):c.323G>A (p.Arg108Gln) rs771412904 0.00004
NM_001199107.2(TBC1D24):c.1384G>A (p.Glu462Lys) rs368678094 0.00004
NM_001199107.2(TBC1D24):c.1426G>A (p.Ala476Thr) rs773304369 0.00004
NM_001199107.2(TBC1D24):c.1490T>C (p.Met497Thr) rs367710709 0.00004
NM_001199107.2(TBC1D24):c.1576C>T (p.Arg526Cys) rs767145914 0.00004
NM_001199107.2(TBC1D24):c.640C>T (p.Arg214Cys) rs760121083 0.00004
NM_001199107.2(TBC1D24):c.808C>T (p.Arg270Cys) rs375860324 0.00004
NM_001199107.2(TBC1D24):c.809G>A (p.Arg270His) rs545689324 0.00004
NM_005219.5(DIAPH1):c.1915A>C (p.Ile639Leu) rs781398463 0.00004
NM_005219.5(DIAPH1):c.2200G>A (p.Gly734Arg) rs374788809 0.00004
NM_005219.5(DIAPH1):c.2273C>T (p.Pro758Leu) rs762969077 0.00004
NM_005219.5(DIAPH1):c.2414G>A (p.Arg805His) rs752824698 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.3175C>G (p.Leu1059Val) rs200394036 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.818A>G (p.Glu273Gly) rs756921782 0.00004
NM_016356.5(DCDC2):c.1199G>A (p.Arg400His) rs771591530 0.00004
NM_016356.5(DCDC2):c.1237G>A (p.Gly413Ser) rs771499861 0.00004
NM_001110219.3(GJB6):c.228del (p.Trp77fs) rs751484173 0.00003
NM_001199107.2(TBC1D24):c.1010C>T (p.Ala337Val) rs1192131861 0.00003
NM_001199107.2(TBC1D24):c.1021C>T (p.Arg341Cys) rs1406095259 0.00003
NM_001199107.2(TBC1D24):c.1022G>A (p.Arg341His) rs754727069 0.00003
NM_001199107.2(TBC1D24):c.1025C>T (p.Ser342Leu) rs1159971280 0.00003
NM_001199107.2(TBC1D24):c.1049T>C (p.Met350Thr) rs1475264921 0.00003
NM_001199107.2(TBC1D24):c.1072C>A (p.Pro358Thr) rs368150932 0.00003
NM_001199107.2(TBC1D24):c.116C>A (p.Ala39Glu) rs773916549 0.00003
NM_001199107.2(TBC1D24):c.1322G>A (p.Arg441His) rs556865791 0.00003
NM_001199107.2(TBC1D24):c.1360A>G (p.Lys454Glu) rs758697406 0.00003
NM_001199107.2(TBC1D24):c.1483G>A (p.Glu495Lys) rs769751880 0.00003
NM_001199107.2(TBC1D24):c.1510G>A (p.Asp504Asn) rs767925237 0.00003
NM_001199107.2(TBC1D24):c.154G>A (p.Gly52Arg) rs751753013 0.00003
NM_001199107.2(TBC1D24):c.1633A>G (p.Ile545Val) rs773874436 0.00003
NM_001199107.2(TBC1D24):c.199G>C (p.Val67Leu) rs751738454 0.00003
NM_001199107.2(TBC1D24):c.325C>T (p.Arg109Cys) rs372337277 0.00003
NM_001199107.2(TBC1D24):c.486T>A (p.Asn162Lys) rs886051845 0.00003
NM_001199107.2(TBC1D24):c.731C>T (p.Ala244Val) rs375873110 0.00003
NM_001199107.2(TBC1D24):c.776C>A (p.Pro259Gln) rs779398267 0.00003
NM_001199107.2(TBC1D24):c.952G>A (p.Val318Met) rs370233833 0.00003
NM_005219.5(DIAPH1):c.1018C>A (p.Arg340Ser) rs754730261 0.00003
NM_005219.5(DIAPH1):c.1019G>A (p.Arg340His) rs751381728 0.00003
NM_005219.5(DIAPH1):c.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.234T>G (p.Asp78Glu) rs1292590118 0.00003
NM_005219.5(DIAPH1):c.2354C>T (p.Ser785Phe) rs532205362 0.00003
NM_005219.5(DIAPH1):c.2545T>A (p.Leu849Ile) rs745960805 0.00003
NM_005219.5(DIAPH1):c.3322C>T (p.His1108Tyr) rs749063652 0.00003
NM_005219.5(DIAPH1):c.560G>C (p.Gly187Ala) rs376465188 0.00003
NM_005219.5(DIAPH1):c.628G>A (p.Asp210Asn) rs749058990 0.00003
NM_005982.4(SIX1):c.191G>A (p.Arg64His) rs1051653507 0.00003
NM_016356.5(DCDC2):c.1100C>T (p.Ser367Leu) rs757670255 0.00003
NM_016356.5(DCDC2):c.769C>T (p.Arg257Cys) rs909339162 0.00003
NM_001110219.3(GJB6):c.109G>A (p.Val37Met) rs761985641 0.00002
NM_001110219.3(GJB6):c.371A>G (p.Gln124Arg) rs760079142 0.00002
NM_001110219.3(GJB6):c.619G>A (p.Val207Met) rs146231737 0.00002
NM_001199107.2(TBC1D24):c.1028A>C (p.Glu343Ala) rs188124777 0.00002
NM_001199107.2(TBC1D24):c.1052G>A (p.Arg351Lys) rs375571181 0.00002
NM_001199107.2(TBC1D24):c.1393G>A (p.Ala465Thr) rs745535369 0.00002
NM_001199107.2(TBC1D24):c.1475C>T (p.Ser492Phe) rs1249590916 0.00002
NM_001199107.2(TBC1D24):c.1525G>A (p.Gly509Arg) rs749994791 0.00002
NM_001199107.2(TBC1D24):c.1591G>A (p.Asp531Asn) rs757236821 0.00002
NM_001199107.2(TBC1D24):c.1675C>T (p.Gln559Ter) rs1253505916 0.00002
NM_001199107.2(TBC1D24):c.197C>T (p.Thr66Met) rs371245371 0.00002
NM_001199107.2(TBC1D24):c.226G>A (p.Asp76Asn) rs979223146 0.00002
NM_001199107.2(TBC1D24):c.381C>A (p.Asp127Glu) rs1376844321 0.00002
NM_001199107.2(TBC1D24):c.409G>A (p.Val137Met) rs200263150 0.00002
NM_001199107.2(TBC1D24):c.485A>G (p.Asn162Ser) rs772054145 0.00002
NM_001199107.2(TBC1D24):c.578C>T (p.Ala193Val) rs750266156 0.00002
NM_001199107.2(TBC1D24):c.622G>A (p.Val208Ile) rs1355375251 0.00002
NM_001199107.2(TBC1D24):c.727G>A (p.Val243Met) rs762660491 0.00002
NM_001199107.2(TBC1D24):c.997T>G (p.Leu333Val) rs753105655 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.2764C>A (p.Gln922Lys) rs766891698 0.00002
NM_005219.5(DIAPH1):c.2903G>A (p.Arg968His) rs373654027 0.00002
NM_005219.5(DIAPH1):c.3097G>A (p.Asp1033Asn) rs1303934222 0.00002
NM_005219.5(DIAPH1):c.3212G>A (p.Arg1071His) rs538492176 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.3701C>T (p.Ala1234Val) rs764739820 0.00002
NM_005219.5(DIAPH1):c.767T>C (p.Met256Thr) rs532196989 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_016356.5(DCDC2):c.1071C>A (p.Asn357Lys) rs746347880 0.00002
NM_016356.5(DCDC2):c.1154C>T (p.Pro385Leu) rs773020868 0.00002
NM_016356.5(DCDC2):c.685A>G (p.Thr229Ala) rs1043649931 0.00002
NM_001110219.3(GJB6):c.458T>C (p.Val153Ala) rs779119807 0.00001
NM_001110219.3(GJB6):c.458T>G (p.Val153Gly) rs779119807 0.00001
NM_001110219.3(GJB6):c.61G>A (p.Gly21Arg) rs751440971 0.00001
NM_001110219.3(GJB6):c.753T>G (p.Ser251Arg) rs752343828 0.00001
NM_001110219.3(GJB6):c.95G>A (p.Arg32Gln) rs766604251 0.00001
NM_001199107.2(TBC1D24):c.1003G>A (p.Val335Ile) rs889668249 0.00001
NM_001199107.2(TBC1D24):c.1033G>A (p.Val345Ile) rs777515811 0.00001
NM_001199107.2(TBC1D24):c.1075G>C (p.Glu359Gln) rs762442022 0.00001
NM_001199107.2(TBC1D24):c.1142+6A>T rs778930581 0.00001
NM_001199107.2(TBC1D24):c.1166A>G (p.His389Arg) rs528162903 0.00001
NM_001199107.2(TBC1D24):c.1206+6C>T rs974544530 0.00001
NM_001199107.2(TBC1D24):c.1253T>C (p.Phe418Ser) rs776176742 0.00001
NM_001199107.2(TBC1D24):c.1288T>C (p.Cys430Arg) rs863224932 0.00001
NM_001199107.2(TBC1D24):c.1321C>T (p.Arg441Cys) rs775497984 0.00001
NM_001199107.2(TBC1D24):c.1381G>A (p.Ala461Thr) rs201911646 0.00001
NM_001199107.2(TBC1D24):c.1399C>A (p.Leu467Ile) rs951307443 0.00001
NM_001199107.2(TBC1D24):c.13G>C (p.Gly5Arg) rs772570554 0.00001
NM_001199107.2(TBC1D24):c.1433G>A (p.Arg478His) rs1596972871 0.00001
NM_001199107.2(TBC1D24):c.143A>T (p.His48Leu) rs761844771 0.00001
NM_001199107.2(TBC1D24):c.1457G>A (p.Arg486His) rs796053405 0.00001
NM_001199107.2(TBC1D24):c.145G>A (p.Ala49Thr) rs758665573 0.00001
NM_001199107.2(TBC1D24):c.1497G>A (p.Met499Ile) rs1403522004 0.00001
NM_001199107.2(TBC1D24):c.1513T>G (p.Cys505Gly) rs761300077 0.00001
NM_001199107.2(TBC1D24):c.151C>T (p.Arg51Trp) rs886051844 0.00001
NM_001199107.2(TBC1D24):c.1524C>T (p.Val508=) rs1333624924 0.00001
NM_001199107.2(TBC1D24):c.1526-3C>T rs752385354 0.00001
NM_001199107.2(TBC1D24):c.152G>A (p.Arg51Gln) rs780286465 0.00001
NM_001199107.2(TBC1D24):c.1530A>G (p.Gly510=) rs749232409 0.00001
NM_001199107.2(TBC1D24):c.1537G>A (p.Gly513Ser) rs779026472 0.00001
NM_001199107.2(TBC1D24):c.1571G>A (p.Arg524Gln) rs758997013 0.00001
NM_001199107.2(TBC1D24):c.1676A>G (p.Gln559Arg) rs1427285339 0.00001
NM_001199107.2(TBC1D24):c.203C>G (p.Thr68Arg) rs866586869 0.00001
NM_001199107.2(TBC1D24):c.211G>A (p.Ala71Thr) rs756581138 0.00001
NM_001199107.2(TBC1D24):c.232G>A (p.Val78Met) rs776539630 0.00001
NM_001199107.2(TBC1D24):c.272C>T (p.Pro91Leu) rs543224888 0.00001
NM_001199107.2(TBC1D24):c.280G>A (p.Glu94Lys) rs1343535255 0.00001
NM_001199107.2(TBC1D24):c.28G>A (p.Val10Met) rs767293945 0.00001
NM_001199107.2(TBC1D24):c.326G>A (p.Arg109His) rs746543920 0.00001
NM_001199107.2(TBC1D24):c.384C>G (p.Ile128Met) rs754479878 0.00001
NM_001199107.2(TBC1D24):c.397G>A (p.Ala133Thr) rs770787878 0.00001
NM_001199107.2(TBC1D24):c.413T>C (p.Val138Ala) rs1162185369 0.00001
NM_001199107.2(TBC1D24):c.415G>A (p.Ala139Thr) rs565087939 0.00001
NM_001199107.2(TBC1D24):c.470G>A (p.Arg157His) rs1301489148 0.00001
NM_001199107.2(TBC1D24):c.478G>T (p.Ala160Ser) rs1277641753 0.00001
NM_001199107.2(TBC1D24):c.49G>A (p.Ala17Thr) rs757359393 0.00001
NM_001199107.2(TBC1D24):c.503T>C (p.Leu168Pro) rs770847294 0.00001
NM_001199107.2(TBC1D24):c.530A>G (p.Glu177Gly) rs767035291 0.00001
NM_001199107.2(TBC1D24):c.545C>T (p.Thr182Met) rs763670146 0.00001
NM_001199107.2(TBC1D24):c.629C>T (p.Ala210Val) rs771442254 0.00001
NM_001199107.2(TBC1D24):c.639G>C (p.Gln213His) rs1223160118 0.00001
NM_001199107.2(TBC1D24):c.676G>A (p.Ala226Thr) rs796053401 0.00001
NM_001199107.2(TBC1D24):c.691G>A (p.Val231Ile) rs370614433 0.00001
NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro) rs370477379 0.00001
NM_001199107.2(TBC1D24):c.800A>G (p.Gln267Arg) rs1004946712 0.00001
NM_001199107.2(TBC1D24):c.805A>G (p.Ile269Val) rs1417808543 0.00001
NM_001199107.2(TBC1D24):c.817G>A (p.Val273Ile) rs752610561 0.00001
NM_001199107.2(TBC1D24):c.820A>G (p.Arg274Gly) rs760591932 0.00001
NM_001199107.2(TBC1D24):c.829G>A (p.Ala277Thr) rs754019727 0.00001
NM_001199107.2(TBC1D24):c.830C>T (p.Ala277Val) rs909267678 0.00001
NM_001199107.2(TBC1D24):c.856C>G (p.Leu286Val) rs775099094 0.00001
NM_001199107.2(TBC1D24):c.866C>T (p.Ala289Val) rs748759187 0.00001
NM_001199107.2(TBC1D24):c.920A>G (p.Asn307Ser) rs761934676 0.00001
NM_001199107.2(TBC1D24):c.965+13C>T rs531521557 0.00001
NM_001199107.2(TBC1D24):c.983G>T (p.Arg328Met) rs796053404 0.00001
NM_001614.5(ACTG1):c.124-3C>T rs143798951 0.00001
NM_001614.5(ACTG1):c.208C>T (p.Pro70Ser) rs1568062708 0.00001
NM_005219.5(DIAPH1):c.1000A>G (p.Ile334Val) rs1374331735 0.00001
NM_005219.5(DIAPH1):c.1015A>G (p.Met339Val) rs374115798 0.00001
NM_005219.5(DIAPH1):c.1073T>C (p.Met358Thr) rs1184130282 0.00001
NM_005219.5(DIAPH1):c.1105G>A (p.Gly369Arg) rs756750537 0.00001
NM_005219.5(DIAPH1):c.1157A>G (p.Glu386Gly) rs1236323559 0.00001
NM_005219.5(DIAPH1):c.1201G>C (p.Val401Leu) rs367592859 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.1339G>A (p.Gly447Arg) rs779687295 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.1543G>C (p.Asp515His) rs759051179 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.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.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.2035C>T (p.Pro679Ser) rs1455766498 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.2203G>T (p.Gly735Cys) rs757761745 0.00001
NM_005219.5(DIAPH1):c.224A>G (p.Tyr75Cys) rs745759508 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.2563A>C (p.Lys855Gln) rs991588859 0.00001
NM_005219.5(DIAPH1):c.2672T>C (p.Ile891Thr) rs727502961 0.00001
NM_005219.5(DIAPH1):c.2758T>C (p.Ser920Pro) rs746418816 0.00001
NM_005219.5(DIAPH1):c.2773G>A (p.Val925Met) rs773243948 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.2944C>T (p.Leu982Phe) rs1431409262 0.00001
NM_005219.5(DIAPH1):c.3023G>A (p.Arg1008Gln) rs1006618137 0.00001
NM_005219.5(DIAPH1):c.3038C>T (p.Thr1013Ile) rs752924382 0.00001
NM_005219.5(DIAPH1):c.3128A>G (p.His1043Arg) rs756215904 0.00001
NM_005219.5(DIAPH1):c.3188A>G (p.Lys1063Arg) rs757169374 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.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.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.3550G>C (p.Glu1184Gln) rs1355259448 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.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.512C>G (p.Ser171Cys) rs1251709997 0.00001
NM_005219.5(DIAPH1):c.545C>A (p.Thr182Lys) rs746125273 0.00001
NM_005219.5(DIAPH1):c.629A>G (p.Asp210Gly) rs1424725542 0.00001
NM_005219.5(DIAPH1):c.635G>A (p.Arg212Gln) rs727504973 0.00001
NM_005219.5(DIAPH1):c.684+6A>G rs1038136298 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.814C>G (p.Pro272Ala) rs778493344 0.00001
NM_005219.5(DIAPH1):c.88G>A (p.Gly30Ser) rs1034109754 0.00001
NM_016356.5(DCDC2):c.1024A>T (p.Arg342Trp) rs753636454 0.00001
NM_016356.5(DCDC2):c.1223C>T (p.Thr408Ile) rs1367144327 0.00001
NM_016356.5(DCDC2):c.1241A>C (p.Glu414Ala) rs773832570 0.00001
NM_016356.5(DCDC2):c.401C>T (p.Pro134Leu) rs779076957 0.00001
NM_016356.5(DCDC2):c.929G>C (p.Gly310Ala) rs746447569 0.00001
NC_000005.9:g.(?_140896398)_(140998501_?)dup
NC_000006.11:g.(?_24174958)_(24178880_?)dup
NC_000013.10:g.(?_20716100)_(21398980_?)dup
NC_000013.10:g.(?_20763040)_(20797619_?)dup
NC_000013.10:g.(?_20796834)_(21099933_?)del
NC_000014.8:g.(?_60976117)_(61191013_?)dup
NC_000014.8:g.(?_60976117)_(61447691_?)del
NC_000016.9:g.(?_2098597)_(2550979_?)dup
NC_000016.9:g.(?_2546130)_(2550979_?)dup
NC_000016.9:g.(?_2546150)_(2550959_?)dup
NC_000016.9:g.(?_2549338)_(2550959_?)dup
NM_001110219.3(GJB6):c.154G>T (p.Val52Phe)
NM_001110219.3(GJB6):c.176G>T (p.Gly59Val)
NM_001110219.3(GJB6):c.223C>T (p.Arg75Trp) rs2137333664
NM_001110219.3(GJB6):c.301G>C (p.Glu101Gln) rs571454176
NM_001110219.3(GJB6):c.310C>T (p.Arg104Cys)
NM_001110219.3(GJB6):c.320G>A (p.Arg107Lys)
NM_001110219.3(GJB6):c.326G>A (p.Gly109Glu) rs747722057
NM_001110219.3(GJB6):c.338A>G (p.Asn113Ser)
NM_001110219.3(GJB6):c.352A>G (p.Ile118Val) rs1869317427
NM_001110219.3(GJB6):c.380G>A (p.Arg127Gln)
NM_001110219.3(GJB6):c.427C>T (p.Arg143Ter)
NM_001110219.3(GJB6):c.428G>A (p.Arg143Gln) rs201783640
NM_001110219.3(GJB6):c.460T>A (p.Phe154Ile)
NM_001110219.3(GJB6):c.590C>A (p.Ser197Tyr)
NM_001110219.3(GJB6):c.593C>A (p.Ala198Glu) rs200881320
NM_001110219.3(GJB6):c.607A>C (p.Met203Leu)
NM_001110219.3(GJB6):c.617A>C (p.Asn206Thr)
NM_001110219.3(GJB6):c.63del (p.Lys22fs) rs770612890
NM_001110219.3(GJB6):c.689dup (p.Asn230fs) rs398124237
NM_001110219.3(GJB6):c.695C>A (p.Pro232His) rs752253778
NM_001110219.3(GJB6):c.94C>T (p.Arg32Ter)
NM_001199107.2(TBC1D24):c.1016A>C (p.Asn339Thr)
NM_001199107.2(TBC1D24):c.1025C>G (p.Ser342Trp) rs1159971280
NM_001199107.2(TBC1D24):c.1030A>G (p.Ile344Val) rs2141874280
NM_001199107.2(TBC1D24):c.1032C>G (p.Ile344Met) rs769656369
NM_001199107.2(TBC1D24):c.1075G>A (p.Glu359Lys)
NM_001199107.2(TBC1D24):c.1079G>T (p.Arg360Leu) rs765965968
NM_001199107.2(TBC1D24):c.1097C>T (p.Pro366Leu) rs2141874400
NM_001199107.2(TBC1D24):c.1100T>A (p.Leu367His) rs2065761961
NM_001199107.2(TBC1D24):c.1102C>G (p.Leu368Val)
NM_001199107.2(TBC1D24):c.1104G>T (p.Leu368=)
NM_001199107.2(TBC1D24):c.1138G>T (p.Ala380Ser) rs2141874469
NM_001199107.2(TBC1D24):c.1171C>G (p.Pro391Ala) rs1435411888
NM_001199107.2(TBC1D24):c.1188C>G (p.Ile396Met)
NM_001199107.2(TBC1D24):c.1198_1200dup (p.Gln400dup) rs752216831
NM_001199107.2(TBC1D24):c.119G>C (p.Arg40Pro)
NM_001199107.2(TBC1D24):c.1207-19A>G
NM_001199107.2(TBC1D24):c.1213G>A (p.Gly405Ser)
NM_001199107.2(TBC1D24):c.1228A>G (p.Thr410Ala)
NM_001199107.2(TBC1D24):c.1238G>A (p.Ser413Asn) rs2065776034
NM_001199107.2(TBC1D24):c.1244G>A (p.Arg415Lys)
NM_001199107.2(TBC1D24):c.1253T>G (p.Phe418Cys) rs776176742
NM_001199107.2(TBC1D24):c.1256G>C (p.Gly419Ala)
NM_001199107.2(TBC1D24):c.1271T>G (p.Phe424Cys) rs1596972145
NM_001199107.2(TBC1D24):c.1282G>A (p.Gly428Arg)
NM_001199107.2(TBC1D24):c.1298T>C (p.Phe433Ser)
NM_001199107.2(TBC1D24):c.1299T>A (p.Phe433Leu)
NM_001199107.2(TBC1D24):c.1303-5C>A rs1468286638
NM_001199107.2(TBC1D24):c.1321C>G (p.Arg441Gly) rs775497984
NM_001199107.2(TBC1D24):c.1327G>C (p.Glu443Gln) rs141399869
NM_001199107.2(TBC1D24):c.1342A>G (p.Lys448Glu)
NM_001199107.2(TBC1D24):c.1358C>T (p.Thr453Ile)
NM_001199107.2(TBC1D24):c.1363C>G (p.Pro455Ala) rs2065781206
NM_001199107.2(TBC1D24):c.1367C>A (p.Pro456Gln) rs200641000
NM_001199107.2(TBC1D24):c.1369C>T (p.Pro457Ser)
NM_001199107.2(TBC1D24):c.1393G>T (p.Ala465Ser)
NM_001199107.2(TBC1D24):c.1396C>G (p.Pro466Ala)
NM_001199107.2(TBC1D24):c.1399C>T (p.Leu467Phe)
NM_001199107.2(TBC1D24):c.1405C>T (p.His469Tyr) rs2065781840
NM_001199107.2(TBC1D24):c.1439C>T (p.Ser480Leu) rs2065782431
NM_001199107.2(TBC1D24):c.144C>G (p.His48Gln) rs765396824
NM_001199107.2(TBC1D24):c.1454C>T (p.Ala485Val)
NM_001199107.2(TBC1D24):c.1466A>G (p.Asn489Ser)
NM_001199107.2(TBC1D24):c.1471C>T (p.Pro491Ser) rs1326854687
NM_001199107.2(TBC1D24):c.1474T>A (p.Ser492Thr) rs2141877364
NM_001199107.2(TBC1D24):c.1489A>G (p.Met497Val) rs2065783244
NM_001199107.2(TBC1D24):c.1495A>G (p.Met499Val) rs2065783330
NM_001199107.2(TBC1D24):c.1505G>A (p.Gly502Asp)
NM_001199107.2(TBC1D24):c.1508G>A (p.Ser503Asn)
NM_001199107.2(TBC1D24):c.1525+6C>A
NM_001199107.2(TBC1D24):c.1526-2A>C rs1131691552
NM_001199107.2(TBC1D24):c.1526G>A (p.Gly509Glu)
NM_001199107.2(TBC1D24):c.1526G>T (p.Gly509Val) rs796053406
NM_001199107.2(TBC1D24):c.1538G>A (p.Gly513Asp)
NM_001199107.2(TBC1D24):c.1550A>G (p.Tyr517Cys)
NM_001199107.2(TBC1D24):c.1552A>G (p.Ile518Val)
NM_001199107.2(TBC1D24):c.1555G>A (p.Asp519Asn)
NM_001199107.2(TBC1D24):c.1559G>A (p.Gly520Glu)
NM_001199107.2(TBC1D24):c.155G>A (p.Gly52Glu) rs755313242
NM_001199107.2(TBC1D24):c.1560G>T (p.Gly520=) rs971385188
NM_001199107.2(TBC1D24):c.1561G>A (p.Asp521Asn) rs2065787303
NM_001199107.2(TBC1D24):c.1574G>A (p.Gly525Asp)
NM_001199107.2(TBC1D24):c.1577G>A (p.Arg526His) rs752301570
NM_001199107.2(TBC1D24):c.1582A>G (p.Ser528Gly)
NM_001199107.2(TBC1D24):c.1583G>A (p.Ser528Asn)
NM_001199107.2(TBC1D24):c.1591G>T (p.Asp531Tyr)
NM_001199107.2(TBC1D24):c.1601A>G (p.Asn534Ser)
NM_001199107.2(TBC1D24):c.1606del (p.Gln536fs) rs1567414972
NM_001199107.2(TBC1D24):c.1609C>T (p.Pro537Ser) rs2065788002
NM_001199107.2(TBC1D24):c.160G>T (p.Val54Leu)
NM_001199107.2(TBC1D24):c.1610C>A (p.Pro537His)
NM_001199107.2(TBC1D24):c.1627T>C (p.Phe543Leu) rs1060502502
NM_001199107.2(TBC1D24):c.1633A>T (p.Ile545Phe)
NM_001199107.2(TBC1D24):c.1642G>T (p.Val548Leu)
NM_001199107.2(TBC1D24):c.1655G>T (p.Gly552Val)
NM_001199107.2(TBC1D24):c.167A>T (p.Gln56Leu) rs2141870903
NM_001199107.2(TBC1D24):c.16T>C (p.Tyr6His)
NM_001199107.2(TBC1D24):c.170G>A (p.Arg57His) rs370100394
NM_001199107.2(TBC1D24):c.179G>C (p.Arg60Pro)
NM_001199107.2(TBC1D24):c.181G>T (p.Asp61Tyr)
NM_001199107.2(TBC1D24):c.184A>G (p.Ile62Val)
NM_001199107.2(TBC1D24):c.187C>T (p.Pro63Ser) rs952274725
NM_001199107.2(TBC1D24):c.194G>A (p.Arg65His)
NM_001199107.2(TBC1D24):c.197C>G (p.Thr66Arg) rs371245371
NM_001199107.2(TBC1D24):c.1A>G (p.Met1Val) rs2141870575
NM_001199107.2(TBC1D24):c.210C>A (p.Asp70Glu)
NM_001199107.2(TBC1D24):c.215G>A (p.Ser72Asn) rs2141871042
NM_001199107.2(TBC1D24):c.227A>G (p.Asp76Gly)
NM_001199107.2(TBC1D24):c.229A>T (p.Ile77Phe)
NM_001199107.2(TBC1D24):c.244G>A (p.Val82Met) rs747915584
NM_001199107.2(TBC1D24):c.244G>T (p.Val82Leu) rs747915584
NM_001199107.2(TBC1D24):c.247G>T (p.Gly83Cys)
NM_001199107.2(TBC1D24):c.24C>G (p.Cys8Trp)
NM_001199107.2(TBC1D24):c.253C>G (p.His85Asp) rs2065739166
NM_001199107.2(TBC1D24):c.253C>T (p.His85Tyr) rs2065739166
NM_001199107.2(TBC1D24):c.257G>A (p.Ser86Asn)
NM_001199107.2(TBC1D24):c.259A>G (p.Ser87Gly) rs2065739291
NM_001199107.2(TBC1D24):c.263G>A (p.Ser88Asn) rs2065739388
NM_001199107.2(TBC1D24):c.284T>C (p.Phe95Ser)
NM_001199107.2(TBC1D24):c.285C>G (p.Phe95Leu)
NM_001199107.2(TBC1D24):c.286G>A (p.Val96Met)
NM_001199107.2(TBC1D24):c.286G>C (p.Val96Leu)
NM_001199107.2(TBC1D24):c.296C>T (p.Thr99Met)
NM_001199107.2(TBC1D24):c.299A>G (p.Gln100Arg)
NM_001199107.2(TBC1D24):c.317T>A (p.Leu106Gln)
NM_001199107.2(TBC1D24):c.325C>A (p.Arg109Ser)
NM_001199107.2(TBC1D24):c.325C>G (p.Arg109Gly) rs372337277
NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser) rs747821285
NM_001199107.2(TBC1D24):c.331G>A (p.Glu111Lys) rs773211471
NM_001199107.2(TBC1D24):c.331G>C (p.Glu111Gln)
NM_001199107.2(TBC1D24):c.333G>T (p.Glu111Asp)
NM_001199107.2(TBC1D24):c.348G>T (p.Lys116Asn)
NM_001199107.2(TBC1D24):c.352C>T (p.Leu118Phe)
NM_001199107.2(TBC1D24):c.368A>G (p.Asn123Ser) rs1457138817
NM_001199107.2(TBC1D24):c.36A>G (p.Lys12=) rs752594126
NM_001199107.2(TBC1D24):c.373T>C (p.Phe125Leu) rs1567411503
NM_001199107.2(TBC1D24):c.376C>T (p.Pro126Ser)
NM_001199107.2(TBC1D24):c.379G>A (p.Asp127Asn) rs750962753
NM_001199107.2(TBC1D24):c.380A>G (p.Asp127Gly)
NM_001199107.2(TBC1D24):c.393C>G (p.Cys131Trp) rs777604231
NM_001199107.2(TBC1D24):c.397G>T (p.Ala133Ser)
NM_001199107.2(TBC1D24):c.398C>T (p.Ala133Val) rs2065741608
NM_001199107.2(TBC1D24):c.401T>C (p.Leu134Pro) rs2065741689
NM_001199107.2(TBC1D24):c.409G>T (p.Val137Leu) rs200263150
NM_001199107.2(TBC1D24):c.418C>G (p.Leu140Val) rs1274130724
NM_001199107.2(TBC1D24):c.430T>C (p.Tyr144His)
NM_001199107.2(TBC1D24):c.431A>G (p.Tyr144Cys) rs1596968109
NM_001199107.2(TBC1D24):c.434G>A (p.Ser145Asn) rs2141871675
NM_001199107.2(TBC1D24):c.446C>T (p.Ala149Val) rs2065742678
NM_001199107.2(TBC1D24):c.448G>A (p.Glu150Lys)
NM_001199107.2(TBC1D24):c.455T>C (p.Phe152Ser)
NM_001199107.2(TBC1D24):c.458A>C (p.Glu153Ala) rs1424074905
NM_001199107.2(TBC1D24):c.458A>G (p.Glu153Gly)
NM_001199107.2(TBC1D24):c.459G>C (p.Glu153Asp) rs1169312508
NM_001199107.2(TBC1D24):c.45G>C (p.Met15Ile)
NM_001199107.2(TBC1D24):c.461A>G (p.Lys154Arg)
NM_001199107.2(TBC1D24):c.487G>T (p.Asp163Tyr)
NM_001199107.2(TBC1D24):c.490C>T (p.Pro164Ser)
NM_001199107.2(TBC1D24):c.493G>T (p.Gly165Cys)
NM_001199107.2(TBC1D24):c.508G>A (p.Asp170Asn)
NM_001199107.2(TBC1D24):c.524C>A (p.Ala175Asp) rs2065744128
NM_001199107.2(TBC1D24):c.524C>G (p.Ala175Gly) rs2065744128
NM_001199107.2(TBC1D24):c.533C>G (p.Ser178Trp) rs483352866
NM_001199107.2(TBC1D24):c.538T>C (p.Cys180Arg)
NM_001199107.2(TBC1D24):c.554_559del (p.Asp185_Leu186del) rs1215641557
NM_001199107.2(TBC1D24):c.556C>G (p.Leu186Val) rs1555501245
NM_001199107.2(TBC1D24):c.585C>G (p.His195Gln)
NM_001199107.2(TBC1D24):c.587A>G (p.Lys196Arg) rs758299397
NM_001199107.2(TBC1D24):c.596T>C (p.Val199Ala)
NM_001199107.2(TBC1D24):c.605C>T (p.Ser202Leu) rs796053400
NM_001199107.2(TBC1D24):c.621G>C (p.Gln207His) rs876658012
NM_001199107.2(TBC1D24):c.628G>A (p.Ala210Thr) rs2141872095
NM_001199107.2(TBC1D24):c.631G>A (p.Asp211Asn)
NM_001199107.2(TBC1D24):c.632A>G (p.Asp211Gly) rs1596968508
NM_001199107.2(TBC1D24):c.650T>A (p.Phe217Tyr) rs1441237124
NM_001199107.2(TBC1D24):c.655G>A (p.Glu219Lys) rs1159293544
NM_001199107.2(TBC1D24):c.659T>C (p.Leu220Pro) rs2065745991
NM_001199107.2(TBC1D24):c.67G>C (p.Gly23Arg) rs2141870701
NM_001199107.2(TBC1D24):c.683T>A (p.Val228Asp)
NM_001199107.2(TBC1D24):c.68G>A (p.Gly23Glu) rs1567410958
NM_001199107.2(TBC1D24):c.710A>G (p.Tyr237Cys)
NM_001199107.2(TBC1D24):c.719T>G (p.Leu240Arg)
NM_001199107.2(TBC1D24):c.721T>A (p.Tyr241Asn)
NM_001199107.2(TBC1D24):c.731C>A (p.Ala244Glu) rs375873110
NM_001199107.2(TBC1D24):c.746A>T (p.Lys249Met)
NM_001199107.2(TBC1D24):c.750C>G (p.Phe250Leu) rs1555501289
NM_001199107.2(TBC1D24):c.751T>G (p.Phe251Val) rs267607104
NM_001199107.2(TBC1D24):c.759G>C (p.Lys253Asn) rs190306450
NM_001199107.2(TBC1D24):c.769G>A (p.Gly257Arg)
NM_001199107.2(TBC1D24):c.769G>T (p.Gly257Trp) rs1440897868
NM_001199107.2(TBC1D24):c.76G>A (p.Glu26Lys) rs369120050
NM_001199107.2(TBC1D24):c.76_77delinsTT (p.Glu26Leu) rs2065735848
NM_001199107.2(TBC1D24):c.776C>T (p.Pro259Leu) rs779398267
NM_001199107.2(TBC1D24):c.781G>C (p.Glu261Gln) rs2065747894
NM_001199107.2(TBC1D24):c.787G>C (p.Asp263His) rs2065747955
NM_001199107.2(TBC1D24):c.790A>G (p.Ser264Gly)
NM_001199107.2(TBC1D24):c.791G>A (p.Ser264Asn)
NM_001199107.2(TBC1D24):c.793G>T (p.Val265Leu) rs772768393
NM_001199107.2(TBC1D24):c.807C>G (p.Ile269Met) rs762576413
NM_001199107.2(TBC1D24):c.811A>G (p.Thr271Ala)
NM_001199107.2(TBC1D24):c.812C>T (p.Thr271Met) rs1328684138
NM_001199107.2(TBC1D24):c.820_822del (p.Arg274del) rs2141872549
NM_001199107.2(TBC1D24):c.824A>G (p.Asp275Gly) rs2141872557
NM_001199107.2(TBC1D24):c.828C>G (p.Ile276Met)
NM_001199107.2(TBC1D24):c.829G>T (p.Ala277Ser) rs754019727
NM_001199107.2(TBC1D24):c.838G>A (p.Val280Met) rs867618745
NM_001199107.2(TBC1D24):c.841T>C (p.Ser281Pro)
NM_001199107.2(TBC1D24):c.842C>A (p.Ser281Tyr)
NM_001199107.2(TBC1D24):c.86G>T (p.Cys29Phe) rs2065735946
NM_001199107.2(TBC1D24):c.889C>T (p.Arg297Cys) rs1351414664
NM_001199107.2(TBC1D24):c.88A>G (p.Thr30Ala) rs2065736000
NM_001199107.2(TBC1D24):c.890G>A (p.Arg297His) rs760666914
NM_001199107.2(TBC1D24):c.890G>T (p.Arg297Leu) rs760666914
NM_001199107.2(TBC1D24):c.916G>A (p.Ala306Thr) rs2141872755
NM_001199107.2(TBC1D24):c.929C>T (p.Ala310Val) rs1160994039
NM_001199107.2(TBC1D24):c.955A>C (p.Lys319Gln) rs2141872821
NM_001199107.2(TBC1D24):c.95T>G (p.Leu32Arg) rs2141870761
NM_001199107.2(TBC1D24):c.963G>T (p.Lys321Asn) rs2141872825
NM_001199107.2(TBC1D24):c.965+4G>C rs781629915
NM_001199107.2(TBC1D24):c.965G>A (p.Ser322Asn) rs1567412410
NM_001199107.2(TBC1D24):c.966-10T>A rs1217245218
NM_001199107.2(TBC1D24):c.967G>A (p.Val323Met)
NM_001199107.2(TBC1D24):c.971C>T (p.Ser324Leu) rs1567412736
NM_001199107.2(TBC1D24):c.977C>A (p.Ser326Tyr) rs2141873571
NM_001199107.2(TBC1D24):c.984G>A (p.Arg328=) rs774492330
NM_001199107.2(TBC1D24):c.991G>A (p.Val331Ile)
NM_001199107.2(TBC1D24):c.994C>T (p.His332Tyr)
NM_001614.5(ACTG1):c.1064T>G (p.Met355Arg)
NM_001614.5(ACTG1):c.1097G>A (p.Gly366Asp)
NM_001614.5(ACTG1):c.1103C>T (p.Ser368Phe) rs1555666360
NM_001614.5(ACTG1):c.1121G>A (p.Cys374Tyr)
NM_001614.5(ACTG1):c.123+5G>C
NM_001614.5(ACTG1):c.160G>A (p.Val54Met) rs2143784086
NM_001614.5(ACTG1):c.235T>C (p.Trp79Arg)
NM_001614.5(ACTG1):c.260A>T (p.His87Leu) rs2143783289
NM_001614.5(ACTG1):c.269T>C (p.Phe90Ser)
NM_001614.5(ACTG1):c.280C>G (p.Leu94Val) rs782388764
NM_001614.5(ACTG1):c.311T>A (p.Leu104Gln)
NM_001614.5(ACTG1):c.346dup (p.Arg116fs)
NM_001614.5(ACTG1):c.349_352del (p.Glu117fs) rs2143782665
NM_001614.5(ACTG1):c.364-3C>G
NM_001614.5(ACTG1):c.376A>G (p.Thr126Ala)
NM_001614.5(ACTG1):c.377C>T (p.Thr126Ile) rs876657740
NM_001614.5(ACTG1):c.389C>A (p.Pro130Gln) rs1555666823
NM_001614.5(ACTG1):c.395T>C (p.Met132Thr) rs1555666818
NM_001614.5(ACTG1):c.426C>G (p.Leu142=) rs112043655
NM_001614.5(ACTG1):c.430G>A (p.Ala144Thr) rs11549196
NM_001614.5(ACTG1):c.433T>G (p.Ser145Ala) rs2143779284
NM_001614.5(ACTG1):c.434C>G (p.Ser145Cys)
NM_001614.5(ACTG1):c.445A>G (p.Thr149Ala) rs781968214
NM_001614.5(ACTG1):c.458T>C (p.Met153Thr)
NM_001614.5(ACTG1):c.525C>G (p.Ile175Met) rs146667866
NM_001614.5(ACTG1):c.583G>A (p.Glu195Lys) rs2143778304
NM_001614.5(ACTG1):c.5A>T (p.Glu2Val)
NM_001614.5(ACTG1):c.616C>T (p.Arg206Trp) rs1598548614
NM_001614.5(ACTG1):c.629G>A (p.Arg210His) rs1555666709
NM_001614.5(ACTG1):c.658G>A (p.Ala220Thr)
NM_001614.5(ACTG1):c.689C>A (p.Ala230Asp)
NM_001614.5(ACTG1):c.692C>T (p.Ala231Val)
NM_001614.5(ACTG1):c.698C>T (p.Ser233Phe)
NM_001614.5(ACTG1):c.701C>T (p.Ser234Phe) rs11549179
NM_001614.5(ACTG1):c.704_706del (p.Ser235del) rs782541695
NM_001614.5(ACTG1):c.737A>T (p.Gln246Leu) rs1568061110
NM_001614.5(ACTG1):c.753C>T (p.Gly251=)
NM_001614.5(ACTG1):c.773C>T (p.Pro258Leu) rs11549191
NM_001614.5(ACTG1):c.807G>A (p.Met269Ile) rs2143775969
NM_001614.5(ACTG1):c.817G>A (p.Gly273Ser)
NM_001614.5(ACTG1):c.823C>T (p.His275Tyr)
NM_001614.5(ACTG1):c.828G>C (p.Glu276Asp)
NM_001614.5(ACTG1):c.82C>T (p.Arg28Ter)
NM_001614.5(ACTG1):c.872A>G (p.Lys291Arg) rs1568060667
NM_001614.5(ACTG1):c.898T>G (p.Ser300Ala)
NM_001614.5(ACTG1):c.932A>T (p.Asp311Val)
NM_001614.5(ACTG1):c.941A>G (p.Gln314Arg)
NM_001614.5(ACTG1):c.943A>G (p.Lys315Glu)
NM_001614.5(ACTG1):c.983A>G (p.Lys328Arg)
NM_005219.5(DIAPH1):c.1000A>C (p.Ile334Leu)
NM_005219.5(DIAPH1):c.1002C>G (p.Ile334Met) 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.1018C>G (p.Arg340Gly)
NM_005219.5(DIAPH1):c.1018C>T (p.Arg340Cys) rs754730261
NM_005219.5(DIAPH1):c.1034A>G (p.Gln345Arg)
NM_005219.5(DIAPH1):c.1044+6A>G
NM_005219.5(DIAPH1):c.104A>G (p.Lys35Arg)
NM_005219.5(DIAPH1):c.1052G>A (p.Arg351Gln)
NM_005219.5(DIAPH1):c.1055A>G (p.Glu352Gly) rs779820289
NM_005219.5(DIAPH1):c.1069G>C (p.Asp357His)
NM_005219.5(DIAPH1):c.1076G>T (p.Arg359Ile)
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.1130A>G (p.Lys377Arg)
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.1164-3C>A rs2154596419
NM_005219.5(DIAPH1):c.1164-9C>G
NM_005219.5(DIAPH1):c.1164T>C (p.Asp388=)
NM_005219.5(DIAPH1):c.116T>C (p.Phe39Ser) rs2154597560
NM_005219.5(DIAPH1):c.117T>C (p.Phe39=)
NM_005219.5(DIAPH1):c.119C>T (p.Thr40Ile) rs1437971317
NM_005219.5(DIAPH1):c.1205A>G (p.Lys402Arg)
NM_005219.5(DIAPH1):c.1211C>T (p.Ser404Leu)
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.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+3A>G rs747583916
NM_005219.5(DIAPH1):c.1283C>A (p.Pro428His)
NM_005219.5(DIAPH1):c.1292A>G (p.Tyr431Cys)
NM_005219.5(DIAPH1):c.1310G>A (p.Cys437Tyr) rs2099896035
NM_005219.5(DIAPH1):c.1319A>G (p.Gln440Arg)
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.1369C>T (p.Leu457Phe)
NM_005219.5(DIAPH1):c.1376T>C (p.Ile459Thr)
NM_005219.5(DIAPH1):c.1381A>G (p.Ile461Val)
NM_005219.5(DIAPH1):c.1382T>C (p.Ile461Thr)
NM_005219.5(DIAPH1):c.1397-3C>T rs2154596393
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+5G>C
NM_005219.5(DIAPH1):c.1461+6T>C
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.1496A>G (p.Gln499Arg)
NM_005219.5(DIAPH1):c.1501G>A (p.Glu501Lys)
NM_005219.5(DIAPH1):c.1513A>T (p.Met505Leu)
NM_005219.5(DIAPH1):c.1517A>T (p.Glu506Val)
NM_005219.5(DIAPH1):c.1524C>G (p.Asp508Glu)
NM_005219.5(DIAPH1):c.152G>C (p.Arg51Thr) rs2099897675
NM_005219.5(DIAPH1):c.1535A>G (p.Lys512Arg)
NM_005219.5(DIAPH1):c.1553G>C (p.Gly518Ala)
NM_005219.5(DIAPH1):c.1570C>T (p.His524Tyr) rs1453865659
NM_005219.5(DIAPH1):c.158C>T (p.Thr53Ile)
NM_005219.5(DIAPH1):c.1595C>T (p.Thr532Ile) rs1446595487
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.1613A>C (p.Glu538Ala) rs2154596341
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.1641G>A (p.Glu547=) rs2099895745
NM_005219.5(DIAPH1):c.1642G>A (p.Val548Ile)
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.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.1742C>G (p.Pro581Arg)
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.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.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.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.1821TCC[14] (p.Pro618_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[15] (p.Pro617_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[8] (p.Pro618_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.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.1840_1860dup (p.Pro620_Leu621insProProProProProProPro)
NM_005219.5(DIAPH1):c.1841C>T (p.Pro614Leu)
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.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.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.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.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.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.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.2000CTT[1] (p.Ser668del) rs1323222030
NM_005219.5(DIAPH1):c.2003C>T (p.Ser668Phe)
NM_005219.5(DIAPH1):c.2007G>T (p.Leu669Phe) rs1284785470
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>G (p.Ile675Met) rs557522528
NM_005219.5(DIAPH1):c.2026C>T (p.Pro676Ser) rs1160456432
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.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.2099T>A (p.Ile700Asn) rs199830182
NM_005219.5(DIAPH1):c.2099T>C (p.Ile700Thr) rs199830182
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.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.211T>C (p.Ser71Pro)
NM_005219.5(DIAPH1):c.2132C>T (p.Ala711Val)
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.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.2216C>T (p.Pro739Leu)
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.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.2263T>C (p.Phe755Leu)
NM_005219.5(DIAPH1):c.2267G>C (p.Gly756Ala) rs1423322662
NM_005219.5(DIAPH1):c.2282C>T (p.Pro761Leu) rs1382690018
NM_005219.5(DIAPH1):c.2287C>G (p.Leu763Val)
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.233A>G (p.Asp78Gly)
NM_005219.5(DIAPH1):c.2347A>G (p.Asn783Asp) rs778373397
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.2369A>T (p.Glu790Val) rs375471795
NM_005219.5(DIAPH1):c.2370G>T (p.Glu790Asp) rs2099895259
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.2447C>A (p.Thr816Asn)
NM_005219.5(DIAPH1):c.2456T>C (p.Phe819Ser)
NM_005219.5(DIAPH1):c.2459C>T (p.Ser820Phe)
NM_005219.5(DIAPH1):c.2461G>A (p.Ala821Thr)
NM_005219.5(DIAPH1):c.2461G>T (p.Ala821Ser)
NM_005219.5(DIAPH1):c.2470A>G (p.Lys824Glu) rs2154596200
NM_005219.5(DIAPH1):c.2473+3G>A
NM_005219.5(DIAPH1):c.2473+3G>C
NM_005219.5(DIAPH1):c.2480A>C (p.Lys827Thr) rs2154596192
NM_005219.5(DIAPH1):c.2482+4A>G
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.2507A>G (p.Glu836Gly)
NM_005219.5(DIAPH1):c.2514G>T (p.Lys838Asn) rs761209182
NM_005219.5(DIAPH1):c.253C>A (p.Gln85Lys) rs2154596689
NM_005219.5(DIAPH1):c.253C>G (p.Gln85Glu)
NM_005219.5(DIAPH1):c.2543A>G (p.Glu848Gly)
NM_005219.5(DIAPH1):c.2552T>C (p.Val851Ala)
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.2584A>G (p.Ile862Val)
NM_005219.5(DIAPH1):c.2585T>C (p.Ile862Thr)
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.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.2645A>T (p.Asn882Ile) rs750058263
NM_005219.5(DIAPH1):c.2650G>A (p.Ala884Thr) rs1214856083
NM_005219.5(DIAPH1):c.2666C>T (p.Ser889Phe)
NM_005219.5(DIAPH1):c.2680C>T (p.Leu894Phe)
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>T (p.Lys911Asn) rs767712795
NM_005219.5(DIAPH1):c.2746G>A (p.Asp916Asn)
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.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.2807G>A (p.Arg936His)
NM_005219.5(DIAPH1):c.2809C>T (p.Leu937Phe)
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.2878G>A (p.Val960Ile) rs2099887778
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.2939C>T (p.Thr980Ile)
NM_005219.5(DIAPH1):c.2944C>G (p.Leu982Val)
NM_005219.5(DIAPH1):c.2965G>A (p.Ala989Thr)
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.29C>G (p.Pro10Arg) rs750068600
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.3017A>G (p.Lys1006Arg)
NM_005219.5(DIAPH1):c.3018+3G>A rs2154594998
NM_005219.5(DIAPH1):c.3018+6C>T rs2154594997
NM_005219.5(DIAPH1):c.3032A>C (p.Lys1011Thr)
NM_005219.5(DIAPH1):c.3037A>G (p.Thr1013Ala)
NM_005219.5(DIAPH1):c.3078G>C (p.Leu1026Phe)
NM_005219.5(DIAPH1):c.307A>G (p.Met103Val) rs2099897198
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.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.3127C>T (p.His1043Tyr)
NM_005219.5(DIAPH1):c.3130G>C (p.Val1044Leu) rs2099887715
NM_005219.5(DIAPH1):c.3140C>T (p.Ala1047Val)
NM_005219.5(DIAPH1):c.3146G>A (p.Arg1049Gln)
NM_005219.5(DIAPH1):c.3148+6G>A
NM_005219.5(DIAPH1):c.3149-13_3149-3del
NM_005219.5(DIAPH1):c.3149-3T>A
NM_005219.5(DIAPH1):c.3157G>A (p.Glu1053Lys) rs1003389476
NM_005219.5(DIAPH1):c.3167A>C (p.Gln1056Pro) rs2154594980
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.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.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.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.3273+19A>T
NM_005219.5(DIAPH1):c.3273+5C>T
NM_005219.5(DIAPH1):c.3273+8C>T
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.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.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.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.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.3491G>A (p.Arg1164Gln)
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.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.3574+5G>C
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.3604C>G (p.Leu1202Val) rs2154594918
NM_005219.5(DIAPH1):c.3629C>T (p.Ala1210Val) rs1263494333
NM_005219.5(DIAPH1):c.3635T>C (p.Phe1212Ser)
NM_005219.5(DIAPH1):c.3644A>G (p.Lys1215Arg) rs2154594916
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.3661G>A (p.Ala1221Thr)
NM_005219.5(DIAPH1):c.3662-3C>T
NM_005219.5(DIAPH1):c.3673G>T (p.Ala1225Ser)
NM_005219.5(DIAPH1):c.3676G>A (p.Gly1226Arg)
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.3694C>G (p.Leu1232Val)
NM_005219.5(DIAPH1):c.369G>C (p.Glu123Asp)
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.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.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.3781C>T (p.Leu1261Phe) rs2154594796
NM_005219.5(DIAPH1):c.3793A>T (p.Lys1265Ter) rs2099885770
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.395C>A (p.Ser132Tyr)
NM_005219.5(DIAPH1):c.402+19A>G
NM_005219.5(DIAPH1):c.402+5G>A
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.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.48C>G (p.Asp16Glu)
NM_005219.5(DIAPH1):c.49AAG[2] (p.Lys19del)
NM_005219.5(DIAPH1):c.50A>G (p.Lys17Arg) rs2099903137
NM_005219.5(DIAPH1):c.538G>A (p.Val180Met) rs370495662
NM_005219.5(DIAPH1):c.544A>G (p.Thr182Ala) rs2099897043
NM_005219.5(DIAPH1):c.556G>C (p.Glu186Gln) rs1440102285
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.614C>T (p.Thr205Ile) rs1489026152
NM_005219.5(DIAPH1):c.616G>A (p.Ala206Thr) rs2099897035
NM_005219.5(DIAPH1):c.621-3C>T
NM_005219.5(DIAPH1):c.625T>C (p.Tyr209His) rs2154596563
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.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+3G>A
NM_005219.5(DIAPH1):c.689G>C (p.Gly230Ala)
NM_005219.5(DIAPH1):c.68C>T (p.Pro23Leu)
NM_005219.5(DIAPH1):c.6G>C (p.Glu2Asp)
NM_005219.5(DIAPH1):c.701T>C (p.Met234Thr)
NM_005219.5(DIAPH1):c.715G>A (p.Glu239Lys)
NM_005219.5(DIAPH1):c.72T>A (p.Asp24Glu) rs1189716868
NM_005219.5(DIAPH1):c.736A>G (p.Arg246Gly)
NM_005219.5(DIAPH1):c.740C>G (p.Ala247Gly)
NM_005219.5(DIAPH1):c.743T>C (p.Met248Thr)
NM_005219.5(DIAPH1):c.751G>A (p.Ala251Thr) rs2154596507
NM_005219.5(DIAPH1):c.757C>G (p.Pro253Ala)
NM_005219.5(DIAPH1):c.757C>T (p.Pro253Ser)
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.809C>T (p.Pro270Leu)
NM_005219.5(DIAPH1):c.825G>A (p.Met275Ile) rs1562326443
NM_005219.5(DIAPH1):c.83C>G (p.Ser28Trp) rs771016727
NM_005219.5(DIAPH1):c.845C>T (p.Ala282Val)
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.8C>T (p.Pro3Leu)
NM_005219.5(DIAPH1):c.924T>G (p.Ile308Met)
NM_005219.5(DIAPH1):c.933+3A>G
NM_005219.5(DIAPH1):c.933+7A>G
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.970C>A (p.Pro324Thr) rs1596384042
NM_005219.5(DIAPH1):c.988T>A (p.Phe330Ile) rs2154596449
NM_005219.5(DIAPH1):c.994G>A (p.Val332Ile) rs1339571940
NM_005982.4(SIX1):c.115G>T (p.Ala39Ser) rs1431824329
NM_005982.4(SIX1):c.139G>C (p.Glu47Gln)
NM_005982.4(SIX1):c.14C>A (p.Pro5Gln)
NM_005982.4(SIX1):c.184A>C (p.Asn62His)
NM_005982.4(SIX1):c.321C>T (p.Gly107=)
NM_005982.4(SIX1):c.340A>G (p.Lys114Glu)
NM_005982.4(SIX1):c.356G>A (p.Arg119His)
NM_005982.4(SIX1):c.385T>A (p.Tyr129Asn)
NM_005982.4(SIX1):c.3G>C (p.Met1Ile)
NM_005982.4(SIX1):c.419G>A (p.Arg140Gln) rs2140241105
NM_005982.4(SIX1):c.421G>A (p.Glu141Lys)
NM_005982.4(SIX1):c.428A>G (p.Tyr143Cys)
NM_005982.4(SIX1):c.446del (p.Pro149fs)
NM_005982.4(SIX1):c.457G>C (p.Glu153Gln)
NM_005982.4(SIX1):c.468_480dup (p.Thr161fs)
NM_005982.4(SIX1):c.482C>G (p.Thr161Ser)
NM_005982.4(SIX1):c.487C>T (p.Leu163Phe)
NM_005982.4(SIX1):c.502G>A (p.Val168Ile)
NM_005982.4(SIX1):c.522C>A (p.Asn174Lys)
NM_005982.4(SIX1):c.524G>A (p.Arg175Gln) rs2140240984
NM_005982.4(SIX1):c.528G>T (p.Arg176Ser)
NM_005982.4(SIX1):c.550G>A (p.Ala184Thr)
NM_005982.4(SIX1):c.583TCC[2] (p.Ser197del)
NM_005982.4(SIX1):c.620A>C (p.Glu207Ala) rs1894944353
NM_005982.4(SIX1):c.644G>T (p.Ser215Ile) rs540778343
NM_005982.4(SIX1):c.689C>T (p.Ser230Leu)
NM_005982.4(SIX1):c.713T>A (p.Met238Lys)
NM_005982.4(SIX1):c.722C>A (p.Ala241Asp)
NM_005982.4(SIX1):c.775G>T (p.Gly259Cys)
NM_005982.4(SIX1):c.811_812del (p.Leu271fs) rs762353418
NM_005982.4(SIX1):c.816dup (p.Gly273fs)
NM_005982.4(SIX1):c.838G>A (p.Val280Met) rs2140239343
NM_005982.4(SIX1):c.847G>A (p.Gly283Arg)
NM_016356.5(DCDC2):c.1056T>G (p.Asp352Glu)
NM_016356.5(DCDC2):c.1076A>T (p.Asp359Val) rs1393437679
NM_016356.5(DCDC2):c.1165G>A (p.Glu389Lys)
NM_016356.5(DCDC2):c.1207C>T (p.Arg403Cys)
NM_016356.5(DCDC2):c.1219G>C (p.Gly407Arg) rs756047736
NM_016356.5(DCDC2):c.1220G>T (p.Gly407Val)
NM_016356.5(DCDC2):c.125C>T (p.Ser42Phe)
NM_016356.5(DCDC2):c.1283A>T (p.Asp428Val) rs375119774
NM_016356.5(DCDC2):c.1313G>T (p.Ser438Ile)
NM_016356.5(DCDC2):c.1318C>T (p.Gln440Ter)
NM_016356.5(DCDC2):c.1406A>C (p.Asn469Thr)
NM_016356.5(DCDC2):c.23C>T (p.Ser8Phe)
NM_016356.5(DCDC2):c.326C>T (p.Pro109Leu)
NM_016356.5(DCDC2):c.388C>T (p.Arg130Cys)
NM_016356.5(DCDC2):c.463C>T (p.Arg155Cys)
NM_016356.5(DCDC2):c.467T>A (p.Leu156His)
NM_016356.5(DCDC2):c.656C>T (p.Pro219Leu)
NM_016356.5(DCDC2):c.660_661inv (p.Ser221Gly)
NM_016356.5(DCDC2):c.662G>A (p.Ser221Asn)
NM_016356.5(DCDC2):c.690G>A (p.Met230Ile)
NM_016356.5(DCDC2):c.696G>T (p.Arg232Ser)
NM_016356.5(DCDC2):c.728C>G (p.Pro243Arg) rs948355469
NM_016356.5(DCDC2):c.755G>C (p.Gly252Ala)
NM_016356.5(DCDC2):c.802A>G (p.Asn268Asp) rs1438044739
NM_016356.5(DCDC2):c.803A>G (p.Asn268Ser)
NM_016356.5(DCDC2):c.840AGA[1] (p.Glu281del) rs760375899
NM_016356.5(DCDC2):c.85T>C (p.Tyr29His) rs748676214
NM_016356.5(DCDC2):c.866C>T (p.Thr289Met)
NM_016356.5(DCDC2):c.886A>G (p.Lys296Glu)
NM_016356.5(DCDC2):c.970G>T (p.Ala324Ser) rs1416369642
NM_016356.5(DCDC2):c.992A>T (p.Glu331Val)

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