ClinVar Miner

List of variants in gene INPP5E studied for Joubert syndrome 1

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 732
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HGVS dbSNP gnomAD frequency
NM_019892.6(INPP5E):c.1248T>C (p.Thr416=) rs10781542 0.42574
NM_019892.6(INPP5E):c.1284T>C (p.Gly428=) rs10870194 0.42571
NM_019892.6(INPP5E):c.*703A>G rs1128874 0.42476
NM_019892.6(INPP5E):c.*328T>C rs35763810 0.41134
NM_019892.6(INPP5E):c.*816A>G rs8413 0.40078
NM_019892.6(INPP5E):c.1794G>T (p.Gly598=) rs33982662 0.22912
NM_019892.6(INPP5E):c.*98G>A rs35873563 0.20643
NM_019892.6(INPP5E):c.*926T>C rs1128877 0.10951
NM_019892.6(INPP5E):c.972A>G (p.Pro324=) rs10870199 0.10324
NM_019892.6(INPP5E):c.1359C>T (p.Pro453=) rs35774078 0.05472
NM_019892.6(INPP5E):c.33C>G (p.Ser11=) rs79161998 0.02475
NM_019892.6(INPP5E):c.-174G>A rs544247720 0.01935
NM_019892.6(INPP5E):c.603C>G (p.Ile201Met) rs36064831 0.01896
NM_019892.6(INPP5E):c.1388-13C>T rs78828148 0.01500
NM_019892.6(INPP5E):c.981C>T (p.Ala327=) rs35498378 0.01340
NM_019892.6(INPP5E):c.636C>A (p.Val212=) rs34071122 0.01252
NM_019892.6(INPP5E):c.531C>A (p.Ala177=) rs58206296 0.01135
NM_019892.6(INPP5E):c.1387+19C>T rs114698406 0.00926
NM_019892.6(INPP5E):c.1770C>T (p.Leu590=) rs143552175 0.00685
NM_019892.6(INPP5E):c.-239C>G rs562519905 0.00588
NM_019892.6(INPP5E):c.-31G>C rs554931078 0.00466
NM_019892.6(INPP5E):c.791G>A (p.Arg264His) rs202197173 0.00415
NM_019892.6(INPP5E):c.1730C>G (p.Pro577Arg) rs147967974 0.00405
NM_019892.6(INPP5E):c.812+4_812+6del rs1405338334 0.00309
NM_019892.6(INPP5E):c.1159+8C>T rs73566945 0.00276
NM_019892.6(INPP5E):c.1299G>A (p.Ala433=) rs56931633 0.00272
NM_019892.6(INPP5E):c.572C>G (p.Pro191Arg) rs61734181 0.00243
NM_019892.6(INPP5E):c.813-5C>G rs186462782 0.00238
NM_019892.6(INPP5E):c.623C>T (p.Thr208Ile) rs143107549 0.00177
NM_019892.6(INPP5E):c.21T>C (p.Asn7=) rs571588033 0.00135
NM_019892.6(INPP5E):c.1875G>A (p.Glu625=) rs148539728 0.00128
NM_019892.6(INPP5E):c.120C>T (p.Pro40=) rs377154166 0.00125
NM_019892.6(INPP5E):c.1550-14C>T rs181576122 0.00117
NM_019892.6(INPP5E):c.1506G>A (p.Pro502=) rs74880446 0.00100
NM_019892.6(INPP5E):c.*630G>A rs539039743 0.00071
NM_019892.6(INPP5E):c.1623C>T (p.Asp541=) rs77248046 0.00068
NM_019892.6(INPP5E):c.813-8C>T rs373176644 0.00061
NM_019892.6(INPP5E):c.1803-20C>T rs190316580 0.00057
NM_019892.6(INPP5E):c.469G>T (p.Gly157Trp) rs78211353 0.00057
NM_019892.6(INPP5E):c.*747T>C rs191248562 0.00054
NM_019892.6(INPP5E):c.1159+9G>A rs114937687 0.00052
NM_019892.6(INPP5E):c.1464C>T (p.Val488=) rs140255426 0.00037
NM_019892.6(INPP5E):c.1666-19C>T rs374671289 0.00036
NM_019892.6(INPP5E):c.1387+14C>T rs368410258 0.00034
NM_019892.6(INPP5E):c.1360G>A (p.Asp454Asn) rs138150684 0.00033
NM_019892.6(INPP5E):c.*811G>A rs778109117 0.00031
NM_019892.6(INPP5E):c.217C>T (p.Arg73Trp) rs779841260 0.00031
NM_019892.6(INPP5E):c.430C>G (p.Arg144Gly) rs1479443394 0.00031
NM_019892.6(INPP5E):c.1191C>T (p.Ile397=) rs558778286 0.00029
NM_019892.6(INPP5E):c.183G>A (p.Glu61=) rs570404672 0.00027
NM_019892.6(INPP5E):c.875G>A (p.Arg292His) rs199873582 0.00027
NM_019892.6(INPP5E):c.460C>T (p.Pro154Ser) rs565209005 0.00026
NM_019892.6(INPP5E):c.*235A>G rs376604726 0.00020
NM_019892.6(INPP5E):c.812+16C>T rs756756387 0.00019
NM_019892.6(INPP5E):c.844G>A (p.Gly282Arg) rs138068434 0.00018
NM_019892.6(INPP5E):c.1549+18C>T rs372446887 0.00017
NM_019892.6(INPP5E):c.-347G>A rs886063716 0.00016
NM_019892.6(INPP5E):c.1470C>T (p.Asp490=) rs375301475 0.00015
NM_019892.6(INPP5E):c.323G>A (p.Gly108Glu) rs562484803 0.00015
NM_019892.6(INPP5E):c.1387+8C>T rs374620221 0.00013
NM_019892.6(INPP5E):c.1697G>A (p.Gly566Asp) rs140543689 0.00013
NM_019892.6(INPP5E):c.554T>A (p.Leu185Gln) rs372412898 0.00013
NM_019892.6(INPP5E):c.813-9C>A rs771055995 0.00013
NM_019892.6(INPP5E):c.1136G>A (p.Arg379Lys) rs200518324 0.00012
NM_019892.6(INPP5E):c.65C>G (p.Thr22Arg) rs556184252 0.00012
NM_019892.6(INPP5E):c.-271C>T rs886063714 0.00011
NM_019892.6(INPP5E):c.586G>T (p.Ala196Ser) rs376043087 0.00011
NM_019892.6(INPP5E):c.1457G>A (p.Arg486His) rs367592401 0.00010
NM_019892.6(INPP5E):c.1176G>A (p.Thr392=) rs528176529 0.00009
NM_019892.6(INPP5E):c.1494G>A (p.Val498=) rs138525676 0.00009
NM_019892.6(INPP5E):c.304G>T (p.Asp102Tyr) rs187724945 0.00009
NM_019892.6(INPP5E):c.588C>T (p.Ala196=) rs368034918 0.00008
NM_019892.6(INPP5E):c.799G>A (p.Asp267Asn) rs750943687 0.00008
NM_019892.6(INPP5E):c.1384G>A (p.Ala462Thr) rs200837258 0.00007
NM_019892.6(INPP5E):c.1387+9G>A rs202236947 0.00007
NM_019892.6(INPP5E):c.1410T>C (p.Asp470=) rs138552060 0.00007
NM_019892.6(INPP5E):c.1549+19G>A rs547569007 0.00007
NM_019892.6(INPP5E):c.1652C>T (p.Thr551Met) rs75342839 0.00007
NM_019892.6(INPP5E):c.532G>A (p.Val178Met) rs376003129 0.00007
NM_019892.6(INPP5E):c.106_126dup (p.Ala36_Ala42dup) rs1240005643 0.00006
NM_019892.6(INPP5E):c.1104C>T (p.His368=) rs148592275 0.00006
NM_019892.6(INPP5E):c.1275C>T (p.Phe425=) rs780525765 0.00006
NM_019892.6(INPP5E):c.1325C>T (p.Thr442Ile) rs201043370 0.00006
NM_019892.6(INPP5E):c.1380C>T (p.Ser460=) rs145543466 0.00006
NM_019892.6(INPP5E):c.1387+20G>A rs200094721 0.00006
NM_019892.6(INPP5E):c.1388C>T (p.Ala463Val) rs199956627 0.00006
NM_019892.6(INPP5E):c.1861C>T (p.Arg621Trp) rs142759730 0.00006
NM_019892.6(INPP5E):c.311A>T (p.Glu104Val) rs748786705 0.00006
NM_019892.6(INPP5E):c.392C>T (p.Pro131Leu) rs756921162 0.00006
NM_019892.6(INPP5E):c.764C>A (p.Ser255Tyr) rs368817877 0.00006
NM_019892.6(INPP5E):c.906C>T (p.Phe302=) rs140222295 0.00006
NM_019892.6(INPP5E):c.976G>A (p.Glu326Lys) rs200794870 0.00006
NM_019892.6(INPP5E):c.1035-9C>T rs750624613 0.00005
NM_019892.6(INPP5E):c.1051C>T (p.Arg351Cys) rs764667114 0.00005
NM_019892.6(INPP5E):c.1387+18G>A rs758023235 0.00005
NM_019892.6(INPP5E):c.1549+11G>T rs762345319 0.00005
NM_019892.6(INPP5E):c.1754G>A (p.Arg585His) rs752300607 0.00005
NM_019892.6(INPP5E):c.580C>G (p.Pro194Ala) rs200223403 0.00005
NM_019892.6(INPP5E):c.746C>T (p.Ser249Phe) rs550485638 0.00005
NM_019892.6(INPP5E):c.878A>T (p.Tyr293Phe) rs145264797 0.00005
NM_019892.6(INPP5E):c.*13G>A rs199734968 0.00004
NM_019892.6(INPP5E):c.*763G>C rs564573606 0.00004
NM_019892.6(INPP5E):c.-175C>T rs868202242 0.00004
NM_019892.6(INPP5E):c.1036C>T (p.Arg346Trp) rs767855660 0.00004
NM_019892.6(INPP5E):c.10A>C (p.Lys4Gln) rs894617448 0.00004
NM_019892.6(INPP5E):c.1189A>G (p.Ile397Val) rs140705002 0.00004
NM_019892.6(INPP5E):c.1192G>A (p.Val398Met) rs200033750 0.00004
NM_019892.6(INPP5E):c.121G>A (p.Asp41Asn) rs778156063 0.00004
NM_019892.6(INPP5E):c.1266G>A (p.Thr422=) rs749680652 0.00004
NM_019892.6(INPP5E):c.1280-10G>A rs780428016 0.00004
NM_019892.6(INPP5E):c.1287C>T (p.Asp429=) rs969546384 0.00004
NM_019892.6(INPP5E):c.1388-5C>T rs187956407 0.00004
NM_019892.6(INPP5E):c.1389G>A (p.Ala463=) rs779735920 0.00004
NM_019892.6(INPP5E):c.1456C>T (p.Arg486Cys) rs75939033 0.00004
NM_019892.6(INPP5E):c.1500C>T (p.Asp500=) rs372142221 0.00004
NM_019892.6(INPP5E):c.1626G>A (p.Thr542=) rs150464071 0.00004
NM_019892.6(INPP5E):c.1758T>C (p.Pro586=) rs1222127887 0.00004
NM_019892.6(INPP5E):c.1881G>A (p.Gln627=) rs144720715 0.00004
NM_019892.6(INPP5E):c.301G>C (p.Glu101Gln) rs566641584 0.00004
NM_019892.6(INPP5E):c.331C>T (p.Pro111Ser) rs766472975 0.00004
NM_019892.6(INPP5E):c.510C>G (p.Asn170Lys) rs778210239 0.00004
NM_019892.6(INPP5E):c.516G>T (p.Pro172=) rs372551521 0.00004
NM_019892.6(INPP5E):c.593G>C (p.Ser198Thr) rs141286608 0.00004
NM_019892.6(INPP5E):c.655T>G (p.Tyr219Asp) rs374690864 0.00004
NM_019892.6(INPP5E):c.754T>C (p.Ser252Pro) rs775406790 0.00004
NM_019892.6(INPP5E):c.945G>A (p.Pro315=) rs753567429 0.00004
NM_019892.6(INPP5E):c.*913T>C rs886063708 0.00003
NM_019892.6(INPP5E):c.1095G>A (p.Ser365=) rs748104868 0.00003
NM_019892.6(INPP5E):c.1098G>A (p.Ala366=) rs374142756 0.00003
NM_019892.6(INPP5E):c.1162G>T (p.Val388Leu) rs863225201 0.00003
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln) rs121918129 0.00003
NM_019892.6(INPP5E):c.1374T>C (p.Tyr458=) rs886038652 0.00003
NM_019892.6(INPP5E):c.1534C>T (p.Arg512Trp) rs374152018 0.00003
NM_019892.6(INPP5E):c.1577C>T (p.Pro526Leu) rs746867724 0.00003
NM_019892.6(INPP5E):c.1614C>T (p.Ile538=) rs778220171 0.00003
NM_019892.6(INPP5E):c.1666-20C>T rs1564431321 0.00003
NM_019892.6(INPP5E):c.1716C>T (p.Ser572=) rs888610698 0.00003
NM_019892.6(INPP5E):c.1802+15G>A rs745341543 0.00003
NM_019892.6(INPP5E):c.322G>A (p.Gly108Arg) rs757082393 0.00003
NM_019892.6(INPP5E):c.422C>A (p.Pro141His) rs954591293 0.00003
NM_019892.6(INPP5E):c.528C>T (p.Ala176=) rs561511490 0.00003
NM_019892.6(INPP5E):c.583C>T (p.Pro195Ser) rs765819603 0.00003
NM_019892.6(INPP5E):c.685C>T (p.Arg229Trp) rs774085718 0.00003
NM_019892.6(INPP5E):c.752G>C (p.Arg251Pro) rs201792737 0.00003
NM_019892.6(INPP5E):c.843C>T (p.Ser281=) rs375981295 0.00003
NM_019892.6(INPP5E):c.872C>T (p.Ala291Val) rs759397125 0.00003
NM_019892.5(INPP5E):c.-7_2dup9 rs1489150239 0.00002
NM_019892.6(INPP5E):c.*213C>T rs544203657 0.00002
NM_019892.6(INPP5E):c.1064C>T (p.Thr355Met) rs863225198 0.00002
NM_019892.6(INPP5E):c.1108G>A (p.Val370Met) rs147531141 0.00002
NM_019892.6(INPP5E):c.1133G>A (p.Arg378His) rs758951947 0.00002
NM_019892.6(INPP5E):c.1224C>T (p.Gly408=) rs769914491 0.00002
NM_019892.6(INPP5E):c.1298C>T (p.Ala433Val) rs1022640639 0.00002
NM_019892.6(INPP5E):c.1393G>A (p.Val465Ile) rs750331066 0.00002
NM_019892.6(INPP5E):c.1402C>T (p.Arg468Cys) rs375909217 0.00002
NM_019892.6(INPP5E):c.1403G>A (p.Arg468His) rs112089228 0.00002
NM_019892.6(INPP5E):c.1407C>T (p.Phe469=) rs377483407 0.00002
NM_019892.6(INPP5E):c.1441C>T (p.Arg481Cys) rs761179746 0.00002
NM_019892.6(INPP5E):c.1465G>A (p.Val489Met) rs781083748 0.00002
NM_019892.6(INPP5E):c.1535G>A (p.Arg512Gln) rs750777734 0.00002
NM_019892.6(INPP5E):c.1544G>A (p.Arg515Gln) rs752106876 0.00002
NM_019892.6(INPP5E):c.1615G>A (p.Gly539Arg) rs375126841 0.00002
NM_019892.6(INPP5E):c.161C>T (p.Thr54Ile) rs1234082483 0.00002
NM_019892.6(INPP5E):c.1666-12A>G rs372545147 0.00002
NM_019892.6(INPP5E):c.168C>T (p.Ala56=) rs1334035407 0.00002
NM_019892.6(INPP5E):c.1732G>A (p.Gly578Arg) rs559636009 0.00002
NM_019892.6(INPP5E):c.1742C>T (p.Thr581Met) rs943471686 0.00002
NM_019892.6(INPP5E):c.1747G>A (p.Asp583Asn) rs756888841 0.00002
NM_019892.6(INPP5E):c.1753C>T (p.Arg585Cys) rs763992407 0.00002
NM_019892.6(INPP5E):c.1760del (p.Val587fs) rs775518991 0.00002
NM_019892.6(INPP5E):c.1868C>T (p.Ser623Leu) rs754887212 0.00002
NM_019892.6(INPP5E):c.18G>C (p.Glu6Asp) rs1461388293 0.00002
NM_019892.6(INPP5E):c.363C>T (p.Pro121=) rs762231724 0.00002
NM_019892.6(INPP5E):c.676C>T (p.Leu226Phe) rs761485683 0.00002
NM_019892.6(INPP5E):c.853T>C (p.Leu285=) rs763694461 0.00002
NM_019892.6(INPP5E):c.944C>T (p.Pro315Leu) rs754637179 0.00002
NM_019892.6(INPP5E):c.958G>A (p.Glu320Lys) rs1254993477 0.00002
NM_019892.6(INPP5E):c.982G>A (p.Asp328Asn) rs201857820 0.00002
NM_019892.6(INPP5E):c.*721C>T rs886063710 0.00001
NM_019892.6(INPP5E):c.-41C>T rs1170873095 0.00001
NM_019892.6(INPP5E):c.1021G>A (p.Gly341Ser) rs780882740 0.00001
NM_019892.6(INPP5E):c.1028C>A (p.Ser343Tyr) rs1442522957 0.00001
NM_019892.6(INPP5E):c.1047G>A (p.Glu349=) rs752019065 0.00001
NM_019892.6(INPP5E):c.1052G>A (p.Arg351His) rs775094328 0.00001
NM_019892.6(INPP5E):c.1058A>G (p.Gln353Arg) rs1835756247 0.00001
NM_019892.6(INPP5E):c.107C>G (p.Ala36Gly) rs771207750 0.00001
NM_019892.6(INPP5E):c.1091C>T (p.Ser364Phe) rs536052523 0.00001
NM_019892.6(INPP5E):c.1105G>A (p.Gly369Ser) rs750574856 0.00001
NM_019892.6(INPP5E):c.1107C>T (p.Gly369=) rs374718674 0.00001
NM_019892.6(INPP5E):c.1126T>C (p.Phe376Leu) rs1835753606 0.00001
NM_019892.6(INPP5E):c.1160-6C>A rs373495219 0.00001
NM_019892.6(INPP5E):c.1198C>G (p.Gln400Glu) rs147285345 0.00001
NM_019892.6(INPP5E):c.1288G>A (p.Gly430Arg) rs1203074338 0.00001
NM_019892.6(INPP5E):c.1303C>T (p.Arg435Trp) rs756789619 0.00001
NM_019892.6(INPP5E):c.1318A>G (p.Thr440Ala) rs752497011 0.00001
NM_019892.6(INPP5E):c.1331A>G (p.Gln444Arg) rs545195109 0.00001
NM_019892.6(INPP5E):c.1375C>T (p.Arg459Cys) rs1042895970 0.00001
NM_019892.6(INPP5E):c.1376G>A (p.Arg459His) rs770146958 0.00001
NM_019892.6(INPP5E):c.1387+15G>A rs1464048559 0.00001
NM_019892.6(INPP5E):c.1387+17T>C rs931544953 0.00001
NM_019892.6(INPP5E):c.1392C>T (p.Asp464=) rs756021340 0.00001
NM_019892.6(INPP5E):c.1452C>T (p.Gly484=) rs371729050 0.00001
NM_019892.6(INPP5E):c.1453G>A (p.Gly485Arg) rs768384414 0.00001
NM_019892.6(INPP5E):c.1468G>T (p.Asp490Tyr) rs757222534 0.00001
NM_019892.6(INPP5E):c.1489C>T (p.Leu497=) rs768106872 0.00001
NM_019892.6(INPP5E):c.150T>C (p.Leu50=) rs1588840560 0.00001
NM_019892.6(INPP5E):c.1530C>T (p.Leu510=) rs780119172 0.00001
NM_019892.6(INPP5E):c.1543C>T (p.Arg515Trp) rs13297509 0.00001
NM_019892.6(INPP5E):c.1549+13G>C rs759252360 0.00001
NM_019892.6(INPP5E):c.1549+17G>A rs776348228 0.00001
NM_019892.6(INPP5E):c.1551G>T (p.Gly517=) rs201644680 0.00001
NM_019892.6(INPP5E):c.1565G>C (p.Gly522Ala) rs771866500 0.00001
NM_019892.6(INPP5E):c.1593C>T (p.Leu531=) rs1202662483 0.00001
NM_019892.6(INPP5E):c.1629C>G (p.Tyr543Ter) rs753398503 0.00001
NM_019892.6(INPP5E):c.1630G>A (p.Asp544Asn) rs1161636527 0.00001
NM_019892.6(INPP5E):c.163C>G (p.Pro55Ala) rs1302116437 0.00001
NM_019892.6(INPP5E):c.1641C>T (p.Ser547=) rs376485593 0.00001
NM_019892.6(INPP5E):c.1665+17G>A rs373331546 0.00001
NM_019892.6(INPP5E):c.1665G>A (p.Thr555=) rs774331779 0.00001
NM_019892.6(INPP5E):c.1666-5C>T rs369685858 0.00001
NM_019892.6(INPP5E):c.1669C>T (p.Arg557Cys) rs1024279229 0.00001
NM_019892.6(INPP5E):c.1670G>A (p.Arg557His) rs992814593 0.00001
NM_019892.6(INPP5E):c.1671C>T (p.Arg557=) rs776792436 0.00001
NM_019892.6(INPP5E):c.1686C>T (p.Ser562=) rs760729838 0.00001
NM_019892.6(INPP5E):c.1687C>T (p.Arg563Cys) rs371960390 0.00001
NM_019892.6(INPP5E):c.1700A>T (p.Asp567Val) rs779177166 0.00001
NM_019892.6(INPP5E):c.1746C>T (p.Ser582=) rs888901624 0.00001
NM_019892.6(INPP5E):c.1787G>C (p.Arg596Thr) rs765327224 0.00001
NM_019892.6(INPP5E):c.1790C>T (p.Pro597Leu) rs760790290 0.00001
NM_019892.6(INPP5E):c.1796G>A (p.Arg599Gln) rs750836133 0.00001
NM_019892.6(INPP5E):c.1802+14C>T rs374679907 0.00001
NM_019892.6(INPP5E):c.1808C>T (p.Pro603Leu) rs746372090 0.00001
NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln) rs1588830568 0.00001
NM_019892.6(INPP5E):c.1919T>C (p.Ile640Thr) rs753001340 0.00001
NM_019892.6(INPP5E):c.1926C>T (p.Ser642=) rs201735585 0.00001
NM_019892.6(INPP5E):c.197G>A (p.Arg66Gln) rs778236228 0.00001
NM_019892.6(INPP5E):c.201A>G (p.Ala67=) rs754529136 0.00001
NM_019892.6(INPP5E):c.208A>G (p.Ile70Val) rs1202573963 0.00001
NM_019892.6(INPP5E):c.211G>A (p.Ala71Thr) rs1835927935 0.00001
NM_019892.6(INPP5E):c.258G>T (p.Leu86=) rs760923526 0.00001
NM_019892.6(INPP5E):c.266A>G (p.Lys89Arg) rs909863600 0.00001
NM_019892.6(INPP5E):c.302A>G (p.Glu101Gly) rs1835922640 0.00001
NM_019892.6(INPP5E):c.314C>T (p.Ala105Val) rs779751422 0.00001
NM_019892.6(INPP5E):c.339G>A (p.Arg113=) rs532376589 0.00001
NM_019892.6(INPP5E):c.341G>A (p.Gly114Asp) rs1295096267 0.00001
NM_019892.6(INPP5E):c.35A>G (p.Glu12Gly) rs1029781765 0.00001
NM_019892.6(INPP5E):c.423C>G (p.Pro141=) rs1250573322 0.00001
NM_019892.6(INPP5E):c.450G>C (p.Glu150Asp) rs1336319671 0.00001
NM_019892.6(INPP5E):c.473G>A (p.Gly158Asp) rs1455781081 0.00001
NM_019892.6(INPP5E):c.479C>G (p.Pro160Arg) rs774738007 0.00001
NM_019892.6(INPP5E):c.47A>G (p.Gln16Arg) rs1835934684 0.00001
NM_019892.6(INPP5E):c.506C>T (p.Pro169Leu) rs1232108345 0.00001
NM_019892.6(INPP5E):c.53C>T (p.Pro18Leu) rs1295075168 0.00001
NM_019892.6(INPP5E):c.547C>T (p.Pro183Ser) rs754964359 0.00001
NM_019892.6(INPP5E):c.549C>T (p.Pro183=) rs750486950 0.00001
NM_019892.6(INPP5E):c.560_561insGCTGCCCAT (p.Ser187delinsArgLeuProIle) rs769234632 0.00001
NM_019892.6(INPP5E):c.687G>C (p.Arg229=) rs958712451 0.00001
NM_019892.6(INPP5E):c.739G>T (p.Asp247Tyr) rs749897420 0.00001
NM_019892.6(INPP5E):c.741C>T (p.Asp247=) rs1416206447 0.00001
NM_019892.6(INPP5E):c.747C>G (p.Ser249=) rs763877519 0.00001
NM_019892.6(INPP5E):c.813-7G>C rs774539451 0.00001
NM_019892.6(INPP5E):c.819C>T (p.Tyr273=) rs1444048193 0.00001
NM_019892.6(INPP5E):c.84C>T (p.Pro28=) rs1324639364 0.00001
NM_019892.6(INPP5E):c.860C>T (p.Ala287Val) rs752406011 0.00001
NM_019892.6(INPP5E):c.861G>A (p.Ala287=) rs764869959 0.00001
NM_019892.6(INPP5E):c.874C>G (p.Arg292Gly) rs753742613 0.00001
NM_019892.6(INPP5E):c.892A>T (p.Asn298Tyr) rs1835793809 0.00001
NM_019892.6(INPP5E):c.894C>T (p.Asn298=) rs1315162454 0.00001
NM_019892.6(INPP5E):c.907G>A (p.Val303Met) rs746212325 0.00001
NM_019892.6(INPP5E):c.937-9T>G rs376994223 0.00001
NM_019892.6(INPP5E):c.957C>T (p.Asp319=) rs1032007993 0.00001
NM_019892.6(INPP5E):c.964C>A (p.Leu322Met) rs1451261136 0.00001
NM_019892.6(INPP5E):c.997C>T (p.Leu333=) rs151090087 0.00001
NC_000009.11:g.(?_139328469)_(139333871_?)dup
NC_000009.11:g.(?_139333040)_(139333871_?)dup
NC_000009.12:g.(?_136429675)_(136438954_?)del
NC_000009.12:g.(?_136434017)_(136439439_?)dup
NM_019892.6(INPP5E):c.*484C>G rs1358870988
NM_019892.6(INPP5E):c.*559C>T rs1835639348
NM_019892.6(INPP5E):c.*582C>T rs931605716
NM_019892.6(INPP5E):c.*5T>G
NM_019892.6(INPP5E):c.*727C>T rs886063709
NM_019892.6(INPP5E):c.-149C>T rs1386453934
NM_019892.6(INPP5E):c.-343T>C rs886063715
NM_019892.6(INPP5E):c.1003G>C (p.Val335Leu)
NM_019892.6(INPP5E):c.1008C>T (p.Ile336=)
NM_019892.6(INPP5E):c.1009G>C (p.Gly337Arg) rs368235861
NM_019892.6(INPP5E):c.1011G>A (p.Gly337=)
NM_019892.6(INPP5E):c.1017G>A (p.Gln339=) rs2131610330
NM_019892.6(INPP5E):c.101A>G (p.Gln34Arg)
NM_019892.6(INPP5E):c.1022G>A (p.Gly341Asp)
NM_019892.6(INPP5E):c.1034+16G>A
NM_019892.6(INPP5E):c.1034+2T>A
NM_019892.6(INPP5E):c.1034+3A>T rs1564433976
NM_019892.6(INPP5E):c.1034+7C>T
NM_019892.6(INPP5E):c.1034+8G>A rs201272028
NM_019892.6(INPP5E):c.1035-18G>A
NM_019892.6(INPP5E):c.1035-19C>T
NM_019892.6(INPP5E):c.1035-8_1035-6del rs1226334444
NM_019892.6(INPP5E):c.1037G>A (p.Arg346Gln)
NM_019892.6(INPP5E):c.103C>T (p.Arg35Cys)
NM_019892.6(INPP5E):c.1045G>A (p.Glu349Lys) rs2131609390
NM_019892.6(INPP5E):c.1053T>C (p.Arg351=)
NM_019892.6(INPP5E):c.1062G>A (p.Glu354=) rs2131609357
NM_019892.6(INPP5E):c.1064_1065insTCGTCTGCAGGACAC (p.Thr355_Leu356insArgLeuGlnAspThr) rs1835756153
NM_019892.6(INPP5E):c.1065G>A (p.Thr355=) rs374089192
NM_019892.6(INPP5E):c.1065G>C (p.Thr355=) rs374089192
NM_019892.6(INPP5E):c.1071C>A (p.Gly357=) rs1264559701
NM_019892.6(INPP5E):c.1073C>T (p.Pro358Leu) rs1835755632
NM_019892.6(INPP5E):c.1074G>A (p.Pro358=) rs746782404
NM_019892.6(INPP5E):c.1074G>T (p.Pro358=) rs746782404
NM_019892.6(INPP5E):c.1079A>G (p.Tyr360Cys)
NM_019892.6(INPP5E):c.107C>T (p.Ala36Val)
NM_019892.6(INPP5E):c.1080T>C (p.Tyr360=)
NM_019892.6(INPP5E):c.1084C>T (p.Leu362=)
NM_019892.6(INPP5E):c.108G>C (p.Ala36=)
NM_019892.6(INPP5E):c.1094C>T (p.Ser365Leu) rs1388522044
NM_019892.6(INPP5E):c.109G>A (p.Gly37Arg)
NM_019892.6(INPP5E):c.1103del (p.His368fs)
NM_019892.6(INPP5E):c.1111C>T (p.Leu371Phe) rs2131609205
NM_019892.6(INPP5E):c.1117A>G (p.Met373Val)
NM_019892.6(INPP5E):c.1118T>C (p.Met373Thr) rs971174374
NM_019892.6(INPP5E):c.1122G>A (p.Ser374=)
NM_019892.6(INPP5E):c.1123C>T (p.Leu375Phe) rs2131609184
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys) rs121918130
NM_019892.6(INPP5E):c.1138G>A (p.Asp380Asn) rs770456201
NM_019892.6(INPP5E):c.1146C>A (p.Ile382=)
NM_019892.6(INPP5E):c.114C>G (p.Ser38=) rs2131620129
NM_019892.6(INPP5E):c.1154G>A (p.Cys385Tyr) rs863225200
NM_019892.6(INPP5E):c.1155C>T (p.Cys385=)
NM_019892.6(INPP5E):c.1156T>C (p.Ser386Pro)
NM_019892.6(INPP5E):c.1159+16_1159+33del rs1239490197
NM_019892.6(INPP5E):c.1159+5_1159+6insGGTGGGTGTGGCTGGAGG
NM_019892.6(INPP5E):c.1159+6_1159+7insGGTGGGCATGGCTGGAGG
NM_019892.6(INPP5E):c.1159+7G>A
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTAGAGG rs71269007
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGGGGTGGGCGCGGCTGAAGG rs71269007
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGGGGTGGGCGCGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGGGGTGGGCGTGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGGGGTGGGCGTGGCTGGAGGGGTGGGCGTGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1159+7_1159+8insGTGGCTGGAGGGGTGG
NM_019892.6(INPP5E):c.1159+7_1159+8insGTGGCTGGAGGGGTGGGT rs1554793113
NM_019892.6(INPP5E):c.1159+8C>A
NM_019892.6(INPP5E):c.1159+8_1159+9insGGTGGGCGCAGCTGGAGG rs747240016
NM_019892.6(INPP5E):c.1159+9_1159+11del
NM_019892.6(INPP5E):c.1160-12C>T
NM_019892.6(INPP5E):c.1160-16G>A
NM_019892.6(INPP5E):c.1160-21_1160-18dup
NM_019892.6(INPP5E):c.1160-9del rs756109971
NM_019892.6(INPP5E):c.1160A>G (p.Glu387Gly)
NM_019892.6(INPP5E):c.1172C>G (p.Ser391Cys)
NM_019892.6(INPP5E):c.1175C>G (p.Thr392Arg)
NM_019892.6(INPP5E):c.1175C>T (p.Thr392Met) rs771142015
NM_019892.6(INPP5E):c.1179G>C (p.Val393=)
NM_019892.6(INPP5E):c.1188C>G (p.Arg396=)
NM_019892.6(INPP5E):c.1191C>A (p.Ile397=) rs558778286
NM_019892.6(INPP5E):c.11A>T (p.Lys4Met) rs1057306367
NM_019892.6(INPP5E):c.1206G>A (p.Lys402=)
NM_019892.6(INPP5E):c.1215G>A (p.Gly405=)
NM_019892.6(INPP5E):c.1219T>C (p.Leu407=)
NM_019892.6(INPP5E):c.1221G>A (p.Leu407=)
NM_019892.6(INPP5E):c.1249T>C (p.Ser417Pro) rs863225202
NM_019892.6(INPP5E):c.1253_1256del (p.Phe418fs) rs2131608672
NM_019892.6(INPP5E):c.1257C>T (p.Leu419=)
NM_019892.6(INPP5E):c.1263C>T (p.Ile421=)
NM_019892.6(INPP5E):c.1267T>C (p.Ser423Pro) rs2131608631
NM_019892.6(INPP5E):c.1275C>G (p.Phe425Leu) rs780525765
NM_019892.6(INPP5E):c.1279+13G>A
NM_019892.6(INPP5E):c.1279+14T>C rs886063711
NM_019892.6(INPP5E):c.1279+18C>T
NM_019892.6(INPP5E):c.1279+19G>C
NM_019892.6(INPP5E):c.1280-18C>T
NM_019892.6(INPP5E):c.1280-2A>C
NM_019892.6(INPP5E):c.1280-4A>G
NM_019892.6(INPP5E):c.1280-8T>A
NM_019892.6(INPP5E):c.1281A>G (p.Ser427=) rs2131608043
NM_019892.6(INPP5E):c.1282G>A (p.Gly428Ser)
NM_019892.6(INPP5E):c.1283G>T (p.Gly428Val) rs1427552852
NM_019892.6(INPP5E):c.1292A>G (p.Lys431Arg)
NM_019892.6(INPP5E):c.1294G>A (p.Val432Met)
NM_019892.6(INPP5E):c.129G>C (p.Pro43=)
NM_019892.6(INPP5E):c.12G>A (p.Lys4=)
NM_019892.6(INPP5E):c.1301A>G (p.Glu434Gly)
NM_019892.6(INPP5E):c.1312G>A (p.Asp438Asn) rs1835733198
NM_019892.6(INPP5E):c.1312G>C (p.Asp438His) rs1835733198
NM_019892.6(INPP5E):c.1313A>G (p.Asp438Gly) rs1167225330
NM_019892.6(INPP5E):c.1319C>T (p.Thr440Ile) rs1835732946
NM_019892.6(INPP5E):c.131G>T (p.Gly44Val)
NM_019892.6(INPP5E):c.1322G>C (p.Arg441Thr)
NM_019892.6(INPP5E):c.1324_1327dup (p.Val443fs)
NM_019892.6(INPP5E):c.1333G>A (p.Ala445Thr)
NM_019892.6(INPP5E):c.1350A>G (p.Arg450=)
NM_019892.6(INPP5E):c.1354G>A (p.Val452Met) rs1554793007
NM_019892.6(INPP5E):c.1364C>A (p.Thr455Asn) rs763184550
NM_019892.6(INPP5E):c.1367A>C (p.Asn456Thr) rs2131607846
NM_019892.6(INPP5E):c.1368C>A (p.Asn456Lys)
NM_019892.6(INPP5E):c.136G>A (p.Glu46Lys) rs886063713
NM_019892.6(INPP5E):c.136G>T (p.Glu46Ter)
NM_019892.6(INPP5E):c.1383C>T (p.Ser461=)
NM_019892.6(INPP5E):c.1387+5G>C rs2131607798
NM_019892.6(INPP5E):c.1388-4G>A rs754727297
NM_019892.6(INPP5E):c.1388-4G>T rs754727297
NM_019892.6(INPP5E):c.139A>G (p.Ser47Gly)
NM_019892.6(INPP5E):c.1401C>T (p.Thr467=) rs1835718113
NM_019892.6(INPP5E):c.1408G>A (p.Asp470Asn)
NM_019892.6(INPP5E):c.141C>T (p.Ser47=)
NM_019892.6(INPP5E):c.1426G>A (p.Gly476Arg)
NM_019892.6(INPP5E):c.1428A>G (p.Gly476=)
NM_019892.6(INPP5E):c.1432_1433del (p.Phe478fs)
NM_019892.6(INPP5E):c.1433T>G (p.Phe478Cys)
NM_019892.6(INPP5E):c.1441C>A (p.Arg481Ser) rs761179746
NM_019892.6(INPP5E):c.1442G>A (p.Arg481His)
NM_019892.6(INPP5E):c.1465G>T (p.Val489Leu)
NM_019892.6(INPP5E):c.1469A>T (p.Asp490Val) rs1835715112
NM_019892.6(INPP5E):c.146C>T (p.Ala49Val)
NM_019892.6(INPP5E):c.1473C>T (p.Ala491=)
NM_019892.6(INPP5E):c.1478T>C (p.Leu493Pro)
NM_019892.6(INPP5E):c.1479G>A (p.Leu493=) rs754015058
NM_019892.6(INPP5E):c.147G>A (p.Ala49=) rs2131620018
NM_019892.6(INPP5E):c.1483C>T (p.Gln495Ter)
NM_019892.6(INPP5E):c.1485G>C (p.Gln495His)
NM_019892.6(INPP5E):c.1491G>C (p.Leu497=)
NM_019892.6(INPP5E):c.14C>A (p.Ala5Glu)
NM_019892.6(INPP5E):c.1501G>A (p.Val501Met)
NM_019892.6(INPP5E):c.1501G>C (p.Val501Leu) rs370876407
NM_019892.6(INPP5E):c.1501G>T (p.Val501Leu)
NM_019892.6(INPP5E):c.1505C>T (p.Pro502Leu) rs769531967
NM_019892.6(INPP5E):c.1508C>T (p.Ala503Val) rs370661476
NM_019892.6(INPP5E):c.1509G>A (p.Ala503=)
NM_019892.6(INPP5E):c.1509G>C (p.Ala503=) rs770801327
NM_019892.6(INPP5E):c.1521C>G (p.His507Gln)
NM_019892.6(INPP5E):c.1521C>T (p.His507=) rs10870188
NM_019892.6(INPP5E):c.1522G>A (p.Asp508Asn) rs1246194868
NM_019892.6(INPP5E):c.1531_1532delinsCA (p.Ile511His) rs1835712336
NM_019892.6(INPP5E):c.1535G>T (p.Arg512Leu) rs750777734
NM_019892.6(INPP5E):c.1543C>A (p.Arg515=) rs13297509
NM_019892.6(INPP5E):c.1547A>G (p.Lys516Arg) rs13294000
NM_019892.6(INPP5E):c.1549+11G>C
NM_019892.6(INPP5E):c.1549+12G>C rs764753548
NM_019892.6(INPP5E):c.1549+15G>A
NM_019892.6(INPP5E):c.1549+15G>T
NM_019892.6(INPP5E):c.1549+17_1549+141del rs2131606546
NM_019892.6(INPP5E):c.1549+17_1550-149del rs2131606081
NM_019892.6(INPP5E):c.1549+17del rs761489335
NM_019892.6(INPP5E):c.1549+17dup
NM_019892.6(INPP5E):c.1549+4A>G
NM_019892.6(INPP5E):c.1550-13C>T
NM_019892.6(INPP5E):c.1550-5G>A
NM_019892.6(INPP5E):c.1561A>G (p.Lys521Glu)
NM_019892.6(INPP5E):c.1564G>C (p.Gly522Arg) rs2131605763
NM_019892.6(INPP5E):c.1578G>A (p.Pro526=)
NM_019892.6(INPP5E):c.1581C>A (p.Asp527Glu)
NM_019892.6(INPP5E):c.1581C>T (p.Asp527=)
NM_019892.6(INPP5E):c.1587C>T (p.His529=)
NM_019892.6(INPP5E):c.1590C>G (p.Phe530Leu) rs531628363
NM_019892.6(INPP5E):c.1590C>T (p.Phe530=)
NM_019892.6(INPP5E):c.15_16del (p.Asn7fs) rs2131620438
NM_019892.6(INPP5E):c.1602C>T (p.Tyr534=)
NM_019892.6(INPP5E):c.1605G>A (p.Lys535=)
NM_019892.6(INPP5E):c.161C>G (p.Thr54Ser) rs1234082483
NM_019892.6(INPP5E):c.1625C>T (p.Thr542Met)
NM_019892.6(INPP5E):c.1629C>T (p.Tyr543=) rs753398503
NM_019892.6(INPP5E):c.1633A>G (p.Ser545Gly) rs1835687019
NM_019892.6(INPP5E):c.1635C>T (p.Ser545=)
NM_019892.6(INPP5E):c.1638C>T (p.Thr546=)
NM_019892.6(INPP5E):c.163C>A (p.Pro55Thr) rs1302116437
NM_019892.6(INPP5E):c.1649G>C (p.Arg550Thr)
NM_019892.6(INPP5E):c.1649_1651dup (p.Arg550dup) rs778019120
NM_019892.6(INPP5E):c.1653G>A (p.Thr551=)
NM_019892.6(INPP5E):c.1655C>T (p.Pro552Leu)
NM_019892.6(INPP5E):c.1664C>T (p.Thr555Met) rs761578787
NM_019892.6(INPP5E):c.1665+15C>G
NM_019892.6(INPP5E):c.1665+16C>G
NM_019892.6(INPP5E):c.1665+16C>T
NM_019892.6(INPP5E):c.1665+3G>A rs2131605615
NM_019892.6(INPP5E):c.1665+7C>G rs2131605609
NM_019892.6(INPP5E):c.1666-19C>A rs374671289
NM_019892.6(INPP5E):c.1666-7C>T
NM_019892.6(INPP5E):c.166G>C (p.Ala56Pro) rs987360153
NM_019892.6(INPP5E):c.166del (p.Ala56fs) rs2131619961
NM_019892.6(INPP5E):c.1671C>A (p.Arg557=) rs776792436
NM_019892.6(INPP5E):c.1672G>A (p.Val558Ile) rs1417022247
NM_019892.6(INPP5E):c.1684A>G (p.Ser562Gly) rs863225197
NM_019892.6(INPP5E):c.1688G>A (p.Arg563His) rs121918128
NM_019892.6(INPP5E):c.1689C>A (p.Arg563=) rs2131604929
NM_019892.6(INPP5E):c.1694A>G (p.Lys565Arg)
NM_019892.6(INPP5E):c.170C>A (p.Thr57Lys)
NM_019892.6(INPP5E):c.1726T>G (p.Cys576Gly) rs2131604859
NM_019892.6(INPP5E):c.1729C>T (p.Pro577Ser) rs1352231723
NM_019892.6(INPP5E):c.1731C>T (p.Pro577=)
NM_019892.6(INPP5E):c.1737C>G (p.Ile579Met) rs2131604828
NM_019892.6(INPP5E):c.1740G>C (p.Lys580Asn)
NM_019892.6(INPP5E):c.1743G>A (p.Thr581=) rs368026621
NM_019892.6(INPP5E):c.1743G>C (p.Thr581=) rs368026621
NM_019892.6(INPP5E):c.1747G>T (p.Asp583Tyr) rs756888841
NM_019892.6(INPP5E):c.1755C>A (p.Arg585=) rs2131604784
NM_019892.6(INPP5E):c.1757C>T (p.Pro586Leu)
NM_019892.6(INPP5E):c.1761_1763dup (p.Tyr588Ter)
NM_019892.6(INPP5E):c.1762T>C (p.Tyr588His)
NM_019892.6(INPP5E):c.1763A>G (p.Tyr588Cys) rs1564431175
NM_019892.6(INPP5E):c.1767C>T (p.Gly589=) rs1835669405
NM_019892.6(INPP5E):c.1768C>T (p.Leu590Phe)
NM_019892.6(INPP5E):c.1770C>G (p.Leu590=)
NM_019892.6(INPP5E):c.1775G>A (p.Arg592Gln)
NM_019892.6(INPP5E):c.177del (p.Ser59fs)
NM_019892.6(INPP5E):c.1780A>T (p.Lys594Ter)
NM_019892.6(INPP5E):c.1791G>A (p.Pro597=) rs10870182
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=) rs10870182
NM_019892.6(INPP5E):c.1795C>T (p.Arg599Ter) rs1191043398
NM_019892.6(INPP5E):c.1802+10C>T
NM_019892.6(INPP5E):c.1802A>G (p.Asn601Ser)
NM_019892.6(INPP5E):c.1803-11C>G
NM_019892.6(INPP5E):c.1803-17C>T
NM_019892.6(INPP5E):c.1803-19G>A
NM_019892.6(INPP5E):c.1803-19G>T
NM_019892.6(INPP5E):c.1803-40_1803-7dup rs1329220171
NM_019892.6(INPP5E):c.181G>A (p.Glu61Lys) rs1835929956
NM_019892.6(INPP5E):c.1820G>A (p.Gly607Asp)
NM_019892.6(INPP5E):c.1830T>A (p.Asp610Glu) rs199875003
NM_019892.6(INPP5E):c.1844T>G (p.Leu615Ter) rs1564430716
NM_019892.6(INPP5E):c.1846C>A (p.Leu616Ile) rs1564430711
NM_019892.6(INPP5E):c.1849G>A (p.Gly617Arg) rs1477067987
NM_019892.6(INPP5E):c.1857A>G (p.Lys619=) rs1200807419
NM_019892.6(INPP5E):c.1862G>T (p.Arg621Leu) rs1588830568
NM_019892.6(INPP5E):c.1866T>A (p.Ile622=)
NM_019892.6(INPP5E):c.1869G>A (p.Ser623=)
NM_019892.6(INPP5E):c.1871A>G (p.Lys624Arg)
NM_019892.6(INPP5E):c.1877T>C (p.Ile626Thr)
NM_019892.6(INPP5E):c.1879C>T (p.Gln627Ter) rs121918127
NM_019892.6(INPP5E):c.1887G>A (p.Gln629=)
NM_019892.6(INPP5E):c.1888C>T (p.Gln630Ter)
NM_019892.6(INPP5E):c.1893A>C (p.Ala631=) rs1835654114
NM_019892.6(INPP5E):c.1894C>T (p.Leu632=)
NM_019892.6(INPP5E):c.1897C>G (p.Gln633Glu)
NM_019892.6(INPP5E):c.1897C>T (p.Gln633Ter) rs763184652
NM_019892.6(INPP5E):c.1897_1898del (p.Gln633fs) rs863225199
NM_019892.6(INPP5E):c.189G>A (p.Pro63=)
NM_019892.6(INPP5E):c.1921T>G (p.Cys641Gly)
NM_019892.6(INPP5E):c.1922del (p.Cys641fs) rs1431917892
NM_019892.6(INPP5E):c.192A>C (p.Pro64=)
NM_019892.6(INPP5E):c.208_214dup (p.Pro72fs)
NM_019892.6(INPP5E):c.210C>T (p.Ile70=) rs1444322599
NM_019892.6(INPP5E):c.213C>T (p.Ala71=)
NM_019892.6(INPP5E):c.220C>G (p.Pro74Ala) rs755881439
NM_019892.6(INPP5E):c.220C>T (p.Pro74Ser)
NM_019892.6(INPP5E):c.223C>T (p.Pro75Ser) rs2131619729
NM_019892.6(INPP5E):c.225C>A (p.Pro75=)
NM_019892.6(INPP5E):c.225C>G (p.Pro75=) rs767451997
NM_019892.6(INPP5E):c.226dup (p.Ala76fs)
NM_019892.6(INPP5E):c.236G>C (p.Arg79Pro)
NM_019892.6(INPP5E):c.247G>A (p.Ala83Thr)
NM_019892.6(INPP5E):c.248C>T (p.Ala83Val)
NM_019892.6(INPP5E):c.255C>T (p.Ser85=) rs776746807
NM_019892.6(INPP5E):c.262G>T (p.Asp88Tyr) rs894770887
NM_019892.6(INPP5E):c.263A>G (p.Asp88Gly)
NM_019892.6(INPP5E):c.268G>A (p.Gly90Ser)
NM_019892.6(INPP5E):c.26G>T (p.Arg9Leu)
NM_019892.6(INPP5E):c.271T>G (p.Trp91Gly)
NM_019892.6(INPP5E):c.274AGG[4] (p.Arg95dup) rs748503945
NM_019892.6(INPP5E):c.278G>C (p.Arg93Thr) rs2131619490
NM_019892.6(INPP5E):c.280A>C (p.Arg94=) rs1835923579
NM_019892.6(INPP5E):c.281G>C (p.Arg94Thr)
NM_019892.6(INPP5E):c.284G>A (p.Arg95His) rs192637923
NM_019892.6(INPP5E):c.291A>G (p.Arg97=)
NM_019892.6(INPP5E):c.291A>T (p.Arg97=)
NM_019892.6(INPP5E):c.29C>T (p.Pro10Leu)
NM_019892.6(INPP5E):c.2_10del (p.Met1_Ser3del) rs2131620472
NM_019892.6(INPP5E):c.304G>A (p.Asp102Asn)
NM_019892.6(INPP5E):c.310G>C (p.Glu104Gln) rs1405900741
NM_019892.6(INPP5E):c.316C>T (p.Arg106Trp) rs755788855
NM_019892.6(INPP5E):c.319A>C (p.Asn107His) rs2131619339
NM_019892.6(INPP5E):c.321T>C (p.Asn107=)
NM_019892.6(INPP5E):c.324G>A (p.Gly108=)
NM_019892.6(INPP5E):c.326C>A (p.Thr109Asn)
NM_019892.6(INPP5E):c.335C>G (p.Ser112Cys) rs1295932398
NM_019892.6(INPP5E):c.338G>A (p.Arg113Lys) rs2131619250
NM_019892.6(INPP5E):c.34G>C (p.Glu12Gln) rs1835935570
NM_019892.6(INPP5E):c.354C>T (p.Ser118=)
NM_019892.6(INPP5E):c.361C>T (p.Pro121Ser)
NM_019892.6(INPP5E):c.364G>A (p.Gly122Arg)
NM_019892.6(INPP5E):c.367_368delinsA (p.Ala123fs)
NM_019892.6(INPP5E):c.368C>T (p.Ala123Val)
NM_019892.6(INPP5E):c.36G>C (p.Glu12Asp)
NM_019892.6(INPP5E):c.372C>G (p.Pro124=)
NM_019892.6(INPP5E):c.373G>C (p.Ala125Pro)
NM_019892.6(INPP5E):c.377A>G (p.His126Arg)
NM_019892.6(INPP5E):c.386C>G (p.Ser129Cys) rs745450500
NM_019892.6(INPP5E):c.386C>T (p.Ser129Phe)
NM_019892.6(INPP5E):c.38C>T (p.Pro13Leu)
NM_019892.6(INPP5E):c.394T>G (p.Cys132Gly)
NM_019892.6(INPP5E):c.408C>T (p.Ser136=)
NM_019892.6(INPP5E):c.431G>A (p.Arg144His)
NM_019892.6(INPP5E):c.44C>T (p.Pro15Leu) rs2131620295
NM_019892.6(INPP5E):c.450G>A (p.Glu150=)
NM_019892.6(INPP5E):c.454G>A (p.Gly152Arg)
NM_019892.6(INPP5E):c.462G>A (p.Pro154=)
NM_019892.6(INPP5E):c.465C>T (p.Ser155=)
NM_019892.6(INPP5E):c.469G>C (p.Gly157Arg)
NM_019892.6(INPP5E):c.473del (p.Gly158fs) rs779450345
NM_019892.6(INPP5E):c.473dup (p.Gly158_Asn159insTer) rs779450345
NM_019892.6(INPP5E):c.477C>G (p.Asn159Lys)
NM_019892.6(INPP5E):c.478C>G (p.Pro160Ala) rs2131618678
NM_019892.6(INPP5E):c.4C>T (p.Pro2Ser) rs1399373117
NM_019892.6(INPP5E):c.500G>A (p.Ser167Asn)
NM_019892.6(INPP5E):c.511C>T (p.Leu171Phe) rs1835911218
NM_019892.6(INPP5E):c.519C>G (p.His173Gln) rs1835910820
NM_019892.6(INPP5E):c.521G>T (p.Arg174Ile) rs1835910612
NM_019892.6(INPP5E):c.530C>T (p.Ala177Val)
NM_019892.6(INPP5E):c.546G>A (p.Ser182=)
NM_019892.6(INPP5E):c.561C>G (p.Ser187Arg)
NM_019892.6(INPP5E):c.568C>T (p.Pro190Ser)
NM_019892.6(INPP5E):c.571C>G (p.Pro191Ala)
NM_019892.6(INPP5E):c.572C>T (p.Pro191Leu)
NM_019892.6(INPP5E):c.577C>T (p.Pro193Ser)
NM_019892.6(INPP5E):c.580C>T (p.Pro194Ser)
NM_019892.6(INPP5E):c.584C>T (p.Pro195Leu)
NM_019892.6(INPP5E):c.587C>T (p.Ala196Val)
NM_019892.6(INPP5E):c.589C>G (p.Leu197Val)
NM_019892.6(INPP5E):c.589C>T (p.Leu197=)
NM_019892.6(INPP5E):c.591G>A (p.Leu197=) rs2131618177
NM_019892.6(INPP5E):c.597G>A (p.Leu199=)
NM_019892.6(INPP5E):c.604G>C (p.Ala202Pro)
NM_019892.6(INPP5E):c.608C>G (p.Ser203Cys) rs1214397440
NM_019892.6(INPP5E):c.610G>T (p.Asp204Tyr)
NM_019892.6(INPP5E):c.613T>C (p.Ser205Pro) rs1216505048
NM_019892.6(INPP5E):c.616C>T (p.Leu206=)
NM_019892.6(INPP5E):c.61A>T (p.Arg21Trp) rs886042814
NM_019892.6(INPP5E):c.623C>A (p.Thr208Lys) rs143107549
NM_019892.6(INPP5E):c.624A>C (p.Thr208=)
NM_019892.6(INPP5E):c.624A>G (p.Thr208=)
NM_019892.6(INPP5E):c.627A>G (p.Ala209=)
NM_019892.6(INPP5E):c.635T>G (p.Val212Gly)
NM_019892.6(INPP5E):c.638A>C (p.Asp213Ala)
NM_019892.6(INPP5E):c.646C>A (p.Leu216Ile) rs994157744
NM_019892.6(INPP5E):c.650C>G (p.Ala217Gly)
NM_019892.6(INPP5E):c.653A>C (p.Asp218Ala) rs753519048
NM_019892.6(INPP5E):c.669G>A (p.Ala223=)
NM_019892.6(INPP5E):c.66dup (p.Leu23fs)
NM_019892.6(INPP5E):c.683T>G (p.Val228Gly)
NM_019892.6(INPP5E):c.692A>T (p.His231Leu) rs779854628
NM_019892.6(INPP5E):c.696C>T (p.Ser232=)
NM_019892.6(INPP5E):c.698G>C (p.Ser233Thr)
NM_019892.6(INPP5E):c.6G>C (p.Pro2=) rs761850172
NM_019892.6(INPP5E):c.705C>T (p.Gly235=)
NM_019892.6(INPP5E):c.712C>T (p.Arg238Trp)
NM_019892.6(INPP5E):c.713G>A (p.Arg238Gln) rs760298042
NM_019892.6(INPP5E):c.713G>T (p.Arg238Leu)
NM_019892.6(INPP5E):c.724C>T (p.Pro242Ser) rs1835897617
NM_019892.6(INPP5E):c.726C>G (p.Pro242=) rs766781844
NM_019892.6(INPP5E):c.729G>A (p.Leu243=)
NM_019892.6(INPP5E):c.733T>C (p.Cys245Arg)
NM_019892.6(INPP5E):c.746C>G (p.Ser249Cys) rs550485638
NM_019892.6(INPP5E):c.748del (p.Leu250fs) rs1346748926
NM_019892.6(INPP5E):c.752G>A (p.Arg251His)
NM_019892.6(INPP5E):c.757G>C (p.Ala253Pro)
NM_019892.6(INPP5E):c.764C>T (p.Ser255Phe) rs368817877
NM_019892.6(INPP5E):c.768C>T (p.Ser256=)
NM_019892.6(INPP5E):c.770T>C (p.Phe257Ser)
NM_019892.6(INPP5E):c.775C>A (p.Leu259Ile)
NM_019892.6(INPP5E):c.777C>T (p.Leu259=)
NM_019892.6(INPP5E):c.781dup (p.Ala261fs)
NM_019892.6(INPP5E):c.783G>A (p.Ala261=)
NM_019892.6(INPP5E):c.801C>T (p.Asp267=)
NM_019892.6(INPP5E):c.807C>T (p.Arg269=)
NM_019892.6(INPP5E):c.808A>G (p.Ser270Gly) rs1564436564
NM_019892.6(INPP5E):c.812+19G>A
NM_019892.6(INPP5E):c.812+3AGGG[3] rs5901103
NM_019892.6(INPP5E):c.812+6_812+10del
NM_019892.6(INPP5E):c.812+7_812+10del rs5901103
NM_019892.6(INPP5E):c.812+7_812+11delinsT rs1835891960
NM_019892.6(INPP5E):c.812+8_812+11del rs1216101553
NM_019892.6(INPP5E):c.813-10C>G
NM_019892.6(INPP5E):c.813-10C>T
NM_019892.6(INPP5E):c.813-16G>A rs2131611492
NM_019892.6(INPP5E):c.813-7G>A
NM_019892.6(INPP5E):c.813-9C>T rs771055995
NM_019892.6(INPP5E):c.815G>T (p.Ser272Ile)
NM_019892.6(INPP5E):c.818A>C (p.Tyr273Ser)
NM_019892.6(INPP5E):c.825G>A (p.Glu275=) rs2131611437
NM_019892.6(INPP5E):c.82C>G (p.Pro28Ala)
NM_019892.6(INPP5E):c.832C>T (p.Leu278Phe) rs1835795799
NM_019892.6(INPP5E):c.847G>A (p.Ala283Thr)
NM_019892.6(INPP5E):c.847G>T (p.Ala283Ser) rs1310994013
NM_019892.6(INPP5E):c.852G>C (p.Leu284=)
NM_019892.6(INPP5E):c.856G>A (p.Gly286Arg)
NM_019892.6(INPP5E):c.874C>T (p.Arg292Cys)
NM_019892.6(INPP5E):c.879C>T (p.Tyr293=)
NM_019892.6(INPP5E):c.885A>G (p.Pro295=) rs2131611346
NM_019892.6(INPP5E):c.888C>T (p.Asp296=)
NM_019892.6(INPP5E):c.890G>A (p.Arg297Gln)
NM_019892.6(INPP5E):c.89C>T (p.Ala30Val)
NM_019892.6(INPP5E):c.906C>A (p.Phe302Leu) rs140222295
NM_019892.6(INPP5E):c.907G>T (p.Val303Leu) rs746212325
NM_019892.6(INPP5E):c.909G>A (p.Val303=)
NM_019892.6(INPP5E):c.912C>T (p.Ala304=) rs2131611280
NM_019892.6(INPP5E):c.915C>T (p.Thr305=)
NM_019892.6(INPP5E):c.916T>G (p.Trp306Gly)
NM_019892.6(INPP5E):c.91C>G (p.Pro31Ala)
NM_019892.6(INPP5E):c.921C>T (p.Asn307=)
NM_019892.6(INPP5E):c.925C>T (p.Gln309Ter)
NM_019892.6(INPP5E):c.927G>A (p.Gln309=)
NM_019892.6(INPP5E):c.92C>A (p.Pro31Gln) rs1835933216
NM_019892.6(INPP5E):c.931C>G (p.Gln311Glu) rs2131611242
NM_019892.6(INPP5E):c.931C>T (p.Gln311Ter)
NM_019892.6(INPP5E):c.934_936del (p.Lys312del)
NM_019892.6(INPP5E):c.936+11G>A
NM_019892.6(INPP5E):c.936+13G>T
NM_019892.6(INPP5E):c.936+16_936+25del
NM_019892.6(INPP5E):c.936+4_936+5dup rs2131611229
NM_019892.6(INPP5E):c.937-11C>T
NM_019892.6(INPP5E):c.937-15G>A rs1297434272
NM_019892.6(INPP5E):c.937-18C>T
NM_019892.6(INPP5E):c.937-3C>T rs1404421521
NM_019892.6(INPP5E):c.937-8C>T
NM_019892.6(INPP5E):c.939G>A (p.Glu313=)
NM_019892.6(INPP5E):c.939G>T (p.Glu313Asp)
NM_019892.6(INPP5E):c.940C>T (p.Leu314Phe)
NM_019892.6(INPP5E):c.949A>G (p.Ser317Gly) rs1186646391
NM_019892.6(INPP5E):c.950G>A (p.Ser317Asn)
NM_019892.6(INPP5E):c.952C>A (p.Leu318Met) rs1835775767
NM_019892.6(INPP5E):c.957C>A (p.Asp319Glu)
NM_019892.6(INPP5E):c.95C>G (p.Pro32Arg) rs1018506310
NM_019892.6(INPP5E):c.95C>T (p.Pro32Leu) rs1018506310
NM_019892.6(INPP5E):c.966G>A (p.Leu322=) rs2131610464
NM_019892.6(INPP5E):c.971_972inv (p.Pro324Leu)
NM_019892.6(INPP5E):c.975C>G (p.Ala325=) rs143258290
NM_019892.6(INPP5E):c.975C>T (p.Ala325=) rs143258290
NM_019892.6(INPP5E):c.986A>G (p.Tyr329Cys)
NM_019892.6(INPP5E):c.986A>T (p.Tyr329Phe) rs372066816
NM_019892.6(INPP5E):c.993G>T (p.Gln331His)
NM_019892.6(INPP5E):c.999G>C (p.Leu333=)

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