ClinVar Miner

List of variants reported as uncertain significance for Joubert syndrome 1 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4004
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HGVS dbSNP gnomAD frequency
NM_019892.6(INPP5E):c.812+4_812+6del rs1405338334 0.00309
NM_024809.5(TCTN2):c.668C>T (p.Thr223Met) rs145374149 0.00124
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly) rs151023718 0.00083
NM_001082538.3(TCTN1):c.1291G>C (p.Val431Leu) rs188817098 0.00071
NM_024809.5(TCTN2):c.776A>G (p.Gln259Arg) rs151318349 0.00070
NM_025114.4(CEP290):c.4031T>C (p.Val1344Ala) rs369227219 0.00067
NM_025114.4(CEP290):c.1670G>A (p.Arg557His) rs184018899 0.00064
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys) rs151332923 0.00061
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala) rs762918371 0.00052
NM_001082538.3(TCTN1):c.934G>A (p.Val312Ile) rs118057448 0.00051
NM_025114.4(CEP290):c.2667G>T (p.Leu889Phe) rs142038791 0.00049
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile) rs201614099 0.00042
NM_001173990.3(TMEM216):c.113A>G (p.Glu38Gly) rs568253718 0.00036
NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=) rs141608712 0.00033
NM_019892.6(INPP5E):c.1360G>A (p.Asp454Asn) rs138150684 0.00033
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly) rs192259143 0.00032
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp) rs201353893 0.00031
NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His) rs147366111 0.00030
NM_017777.4(MKS1):c.1414C>T (p.Arg472Cys) rs181513926 0.00029
NM_025114.4(CEP290):c.3102A>G (p.Leu1034=) rs201160801 0.00029
NM_001082538.3(TCTN1):c.1658C>T (p.Thr553Met) rs182406601 0.00026
NM_015272.5(RPGRIP1L):c.2399A>C (p.Asn800Thr) rs147734438 0.00026
NM_015272.5(RPGRIP1L):c.3658A>G (p.Ile1220Val) rs147046186 0.00026
NM_019892.6(INPP5E):c.460C>T (p.Pro154Ser) rs565209005 0.00026
NM_025114.4(CEP290):c.1742A>C (p.Glu581Ala) rs77579747 0.00025
NM_001082538.3(TCTN1):c.1304A>G (p.Tyr435Cys) rs201007321 0.00024
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp) rs146584570 0.00024
NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn) rs201982308 0.00024
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys) rs374852145 0.00024
NM_001378615.1(CC2D2A):c.4852C>T (p.Arg1618Cys) rs201219078 0.00023
NM_025114.4(CEP290):c.2615C>T (p.Ser872Leu) rs373341530 0.00023
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr) rs375991767 0.00023
NM_024809.5(TCTN2):c.500C>T (p.Pro167Leu) rs201140519 0.00022
NM_025114.4(CEP290):c.3787C>A (p.Leu1263Met) rs370395204 0.00022
NM_025114.4(CEP290):c.6558T>G (p.His2186Gln) rs772603458 0.00022
NM_001082538.3(TCTN1):c.890C>T (p.Thr297Met) rs200460700 0.00021
NM_001378615.1(CC2D2A):c.2560T>G (p.Trp854Gly) rs747204358 0.00021
NM_015272.5(RPGRIP1L):c.1177G>A (p.Glu393Lys) rs375776718 0.00021
NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys) rs148230131 0.00021
NM_015272.5(RPGRIP1L):c.3719T>C (p.Val1240Ala) rs201248643 0.00021
NM_017777.4(MKS1):c.83T>C (p.Val28Ala) rs201957874 0.00021
NM_025114.4(CEP290):c.7276G>A (p.Asp2426Asn) rs200178519 0.00021
NM_017777.4(MKS1):c.469G>A (p.Glu157Lys) rs200970148 0.00020
NM_024809.5(TCTN2):c.1756G>A (p.Gly586Ser) rs199543783 0.00020
NM_001082538.3(TCTN1):c.1676C>T (p.Ala559Val) rs373723058 0.00019
NM_015681.6(B9D1):c.11C>G (p.Ala4Gly) rs148563865 0.00019
NM_017777.4(MKS1):c.1363G>C (p.Glu455Gln) rs199927741 0.00019
NM_017777.4(MKS1):c.1408-3C>T rs377033273 0.00019
NM_025114.4(CEP290):c.2446C>T (p.Arg816Cys) rs374656545 0.00019
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp) rs200969981 0.00019
NM_025114.4(CEP290):c.4360G>A (p.Glu1454Lys) rs369902368 0.00018
NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met) rs200927282 0.00016
NM_001134831.2(AHI1):c.2231A>G (p.Lys744Arg) rs373014753 0.00016
NM_001134831.2(AHI1):c.3223G>A (p.Gly1075Arg) rs750115460 0.00016
NM_017777.4(MKS1):c.1113C>A (p.Phe371Leu) rs950609840 0.00016
NM_024809.5(TCTN2):c.1015A>G (p.Lys339Glu) rs563272016 0.00016
NM_024809.5(TCTN2):c.316T>G (p.Ser106Ala) rs148032415 0.00016
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu) rs200817579 0.00016
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys) rs202159966 0.00016
NM_001134831.2(AHI1):c.2222A>G (p.Asp741Gly) rs369869567 0.00015
NM_001378615.1(CC2D2A):c.3368G>A (p.Ser1123Asn) rs377404804 0.00015
NM_015272.5(RPGRIP1L):c.481C>T (p.Arg161Cys) rs374860980 0.00015
NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile) rs370004832 0.00015
NM_001082538.3(TCTN1):c.1060G>A (p.Val354Ile) rs374701683 0.00014
NM_001082538.3(TCTN1):c.14G>A (p.Gly5Asp) rs572300029 0.00014
NM_001378615.1(CC2D2A):c.3014+4A>C rs748451478 0.00014
NM_001378615.1(CC2D2A):c.3113A>T (p.Asp1038Val) rs376913682 0.00014
NM_001378615.1(CC2D2A):c.3288+3G>A rs372903309 0.00014
NM_001378615.1(CC2D2A):c.3751G>A (p.Gly1251Arg) rs368180778 0.00014
NM_015272.5(RPGRIP1L):c.1709A>G (p.Lys570Arg) rs111459222 0.00014
NM_015272.5(RPGRIP1L):c.3690G>A (p.Met1230Ile) rs141838831 0.00014
NM_025114.4(CEP290):c.7075A>C (p.Ile2359Leu) rs183387506 0.00014
NM_030578.4(B9D2):c.150G>C (p.Gln50His) rs747988749 0.00014
NM_001082538.3(TCTN1):c.1531G>A (p.Ala511Thr) rs369125553 0.00013
NM_001134831.2(AHI1):c.1454A>G (p.Asn485Ser) rs375425462 0.00013
NM_001134831.2(AHI1):c.2962-3T>C rs369713977 0.00013
NM_001134831.2(AHI1):c.9A>G (p.Thr3=) rs761022642 0.00013
NM_019892.6(INPP5E):c.554T>A (p.Leu185Gln) rs372412898 0.00013
NM_025114.4(CEP290):c.1384G>A (p.Val462Ile) rs374199052 0.00013
NM_025114.4(CEP290):c.5338G>A (p.Val1780Ile) rs368492668 0.00013
NM_001134831.2(AHI1):c.2203A>G (p.Ile735Val) rs375643798 0.00012
NM_001378615.1(CC2D2A):c.2597A>G (p.Asn866Ser) rs199563573 0.00012
NM_003611.3(OFD1):c.1399C>T (p.Arg467Cys) rs140561107 0.00012
NM_019892.6(INPP5E):c.65C>G (p.Thr22Arg) rs556184252 0.00012
NM_025114.4(CEP290):c.1667T>A (p.Ile556Asn) rs727503854 0.00012
NM_025114.4(CEP290):c.31A>G (p.Met11Val) rs185939120 0.00012
NM_025114.4(CEP290):c.4978T>A (p.Leu1660Ile) rs372557655 0.00012
NM_025114.4(CEP290):c.5125C>A (p.Gln1709Lys) rs367580207 0.00012
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val) rs183071230 0.00012
NM_025114.4(CEP290):c.904A>G (p.Ile302Val) rs764495570 0.00012
NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile) rs201949664 0.00012
NM_001082538.3(TCTN1):c.1015G>C (p.Val339Leu) rs201990420 0.00011
NM_001082538.3(TCTN1):c.1622C>T (p.Ser541Phe) rs752953090 0.00011
NM_015272.5(RPGRIP1L):c.1081A>G (p.Asn361Asp) rs376720589 0.00011
NM_015272.5(RPGRIP1L):c.1261G>A (p.Val421Ile) rs138383101 0.00011
NM_015272.5(RPGRIP1L):c.2304G>A (p.Ser768=) rs770503381 0.00011
NM_015272.5(RPGRIP1L):c.3430C>G (p.Gln1144Glu) rs1050777749 0.00011
NM_015681.6(B9D1):c.485G>A (p.Arg162His) rs142346405 0.00011
NM_019892.6(INPP5E):c.586G>T (p.Ala196Ser) rs376043087 0.00011
NM_024809.5(TCTN2):c.1234+5C>G rs201382614 0.00011
NM_025114.4(CEP290):c.2473G>A (p.Glu825Lys) rs779666225 0.00011
NM_025114.4(CEP290):c.4088G>A (p.Arg1363Gln) rs188502327 0.00011
NM_025114.4(CEP290):c.4741C>T (p.Leu1581Phe) rs11831931 0.00011
NM_025114.4(CEP290):c.6142G>C (p.Gly2048Arg) rs377000187 0.00011
NM_025114.4(CEP290):c.6572A>T (p.His2191Leu) rs368428115 0.00011
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His) rs371833544 0.00011
NM_001378615.1(CC2D2A):c.3503G>A (p.Arg1168His) rs375344007 0.00010
NM_001378615.1(CC2D2A):c.4659G>C (p.Gln1553His) rs375083236 0.00010
NM_003611.3(OFD1):c.1128A>C (p.Lys376Asn) rs758883184 0.00010
NM_017777.4(MKS1):c.1435C>T (p.Arg479Cys) rs769442220 0.00010
NM_019892.6(INPP5E):c.1457G>A (p.Arg486His) rs367592401 0.00010
NM_025114.4(CEP290):c.3773A>G (p.Asn1258Ser) rs200830750 0.00010
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908 0.00010
NM_001134831.2(AHI1):c.3588+1G>A rs533296867 0.00009
NM_001378615.1(CC2D2A):c.1484G>A (p.Arg495His) rs373906628 0.00009
NM_001378615.1(CC2D2A):c.1766G>A (p.Arg589Lys) rs763477416 0.00009
NM_001378615.1(CC2D2A):c.2437G>A (p.Gly813Arg) rs375167917 0.00009
NM_001378615.1(CC2D2A):c.2624C>T (p.Ser875Leu) rs200904521 0.00009
NM_015272.5(RPGRIP1L):c.1333A>G (p.Ile445Val) rs140876280 0.00009
NM_015272.5(RPGRIP1L):c.1419A>C (p.Lys473Asn) rs769686672 0.00009
NM_015272.5(RPGRIP1L):c.1603C>T (p.Arg535Cys) rs149781516 0.00009
NM_015272.5(RPGRIP1L):c.1946G>A (p.Arg649Gln) rs560144848 0.00009
NM_015272.5(RPGRIP1L):c.2105A>G (p.Glu702Gly) rs193282093 0.00009
NM_015272.5(RPGRIP1L):c.2173A>G (p.Asn725Asp) rs373201651 0.00009
NM_015272.5(RPGRIP1L):c.2932G>A (p.Val978Met) rs367845452 0.00009
NM_015272.5(RPGRIP1L):c.962G>A (p.Arg321His) rs183419371 0.00009
NM_017777.4(MKS1):c.1597C>T (p.Arg533Cys) rs745946583 0.00009
NM_017777.4(MKS1):c.1640C>T (p.Pro547Leu) rs771585740 0.00009
NM_017777.4(MKS1):c.858+6C>T rs368774719 0.00009
NM_024809.5(TCTN2):c.1699C>T (p.Arg567Cys) rs369121651 0.00009
NM_024809.5(TCTN2):c.1712C>T (p.Ser571Leu) rs372687837 0.00009
NM_024809.5(TCTN2):c.1723G>A (p.Ala575Thr) rs202157566 0.00009
NM_024809.5(TCTN2):c.631G>A (p.Val211Ile) rs544183268 0.00009
NM_025114.4(CEP290):c.2098C>T (p.His700Tyr) rs369104382 0.00009
NM_025114.4(CEP290):c.4577A>T (p.Glu1526Val) rs760625332 0.00009
NM_153704.6(TMEM67):c.46C>T (p.Leu16Phe) rs367722582 0.00009
NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala) rs797045846 0.00008
NM_003611.3(OFD1):c.679A>G (p.Ile227Val) rs748477774 0.00008
NM_015272.5(RPGRIP1L):c.2390G>T (p.Arg797Ile) rs892392514 0.00008
NM_015272.5(RPGRIP1L):c.292G>A (p.Gly98Ser) rs202124667 0.00008
NM_015272.5(RPGRIP1L):c.389A>G (p.Lys130Arg) rs765642149 0.00008
NM_019892.6(INPP5E):c.799G>A (p.Asp267Asn) rs750943687 0.00008
NM_024809.5(TCTN2):c.1552G>A (p.Val518Ile) rs147469128 0.00008
NM_025114.4(CEP290):c.4343C>G (p.Pro1448Arg) rs757356455 0.00008
NM_025114.4(CEP290):c.6320A>G (p.Lys2107Arg) rs755933899 0.00008
NM_025114.4(CEP290):c.6986A>G (p.Glu2329Gly) rs772648931 0.00008
NM_025114.4(CEP290):c.974T>C (p.Ile325Thr) rs769705837 0.00008
NM_153704.6(TMEM67):c.2323A>G (p.Ile775Val) rs200145042 0.00008
NM_001082538.3(TCTN1):c.607A>G (p.Thr203Ala) rs1483033032 0.00007
NM_001134831.2(AHI1):c.1694G>A (p.Arg565His) rs372894716 0.00007
NM_001134831.2(AHI1):c.2551T>G (p.Leu851Val) rs373971733 0.00007
NM_001378615.1(CC2D2A):c.379C>T (p.Arg127Trp) rs145945939 0.00007
NM_001378615.1(CC2D2A):c.4314+6T>C rs764971650 0.00007
NM_001378615.1(CC2D2A):c.4541G>A (p.Arg1514His) rs368191427 0.00007
NM_001378615.1(CC2D2A):c.950G>T (p.Gly317Val) rs775632403 0.00007
NM_015272.5(RPGRIP1L):c.217G>C (p.Asp73His) rs369451829 0.00007
NM_015272.5(RPGRIP1L):c.2537T>C (p.Val846Ala) rs750235612 0.00007
NM_015272.5(RPGRIP1L):c.2914G>A (p.Asp972Asn) rs138777811 0.00007
NM_017777.4(MKS1):c.1298C>T (p.Thr433Met) rs755841031 0.00007
NM_017777.4(MKS1):c.994G>A (p.Val332Ile) rs775391594 0.00007
NM_019892.6(INPP5E):c.1384G>A (p.Ala462Thr) rs200837258 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_025114.4(CEP290):c.3778G>A (p.Ala1260Thr) rs375609644 0.00007
NM_025114.4(CEP290):c.5395T>G (p.Leu1799Val) rs1289111857 0.00007
NM_153704.6(TMEM67):c.2162C>G (p.Pro721Arg) rs757105976 0.00007
NM_001082538.3(TCTN1):c.8C>T (p.Pro3Leu) rs772390489 0.00006
NM_001082538.3(TCTN1):c.901C>T (p.Arg301Trp) rs755328291 0.00006
NM_001134831.2(AHI1):c.232A>G (p.Thr78Ala) rs754609881 0.00006
NM_001134831.2(AHI1):c.2561G>T (p.Cys854Phe) rs745507530 0.00006
NM_001134831.2(AHI1):c.3206A>G (p.Glu1069Gly) rs367640472 0.00006
NM_001134831.2(AHI1):c.3217C>A (p.His1073Asn) rs374945386 0.00006
NM_001134831.2(AHI1):c.3542G>A (p.Arg1181Gln) rs200368187 0.00006
NM_001134831.2(AHI1):c.37A>G (p.Lys13Glu) rs763715513 0.00006
NM_001134831.2(AHI1):c.74A>G (p.Asp25Gly) rs778792339 0.00006
NM_001134831.2(AHI1):c.853A>G (p.Met285Val) rs200389118 0.00006
NM_001378615.1(CC2D2A):c.1466+3G>A rs574767203 0.00006
NM_001378615.1(CC2D2A):c.1553C>A (p.Ser518Tyr) rs375633207 0.00006
NM_001378615.1(CC2D2A):c.2542A>C (p.Met848Leu) rs376403848 0.00006
NM_001378615.1(CC2D2A):c.3176C>A (p.Ala1059Glu) rs200034384 0.00006
NM_001378615.1(CC2D2A):c.3985G>C (p.Ala1329Pro) rs951039594 0.00006
NM_001378615.1(CC2D2A):c.4460G>A (p.Arg1487His) rs971832306 0.00006
NM_015272.5(RPGRIP1L):c.1280T>C (p.Leu427Pro) rs150099624 0.00006
NM_015272.5(RPGRIP1L):c.1397T>C (p.Ile466Thr) rs199786347 0.00006
NM_015272.5(RPGRIP1L):c.279G>C (p.Glu93Asp) rs762264695 0.00006
NM_015272.5(RPGRIP1L):c.3446T>A (p.Ile1149Asn) rs766943204 0.00006
NM_015272.5(RPGRIP1L):c.3544C>G (p.Pro1182Ala) rs61742648 0.00006
NM_015272.5(RPGRIP1L):c.3832G>A (p.Asp1278Asn) rs370655253 0.00006
NM_015272.5(RPGRIP1L):c.3857G>T (p.Gly1286Val) rs755820734 0.00006
NM_015272.5(RPGRIP1L):c.466C>T (p.Arg156Cys) rs527539036 0.00006
NM_015681.6(B9D1):c.131C>T (p.Ala44Val) rs149845104 0.00006
NM_015681.6(B9D1):c.584G>T (p.Gly195Val) rs758466581 0.00006
NM_017777.4(MKS1):c.10A>T (p.Thr4Ser) rs928775924 0.00006
NM_017777.4(MKS1):c.1580A>G (p.Asn527Ser) rs774309110 0.00006
NM_017777.4(MKS1):c.1607G>A (p.Arg536Gln) rs746283445 0.00006
NM_019892.6(INPP5E):c.106_126dup (p.Ala36_Ala42dup) rs1240005643 0.00006
NM_019892.6(INPP5E):c.1325C>T (p.Thr442Ile) rs201043370 0.00006
NM_019892.6(INPP5E):c.1388C>T (p.Ala463Val) rs199956627 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_024809.5(TCTN2):c.1724C>T (p.Ala575Val) rs763649240 0.00006
NM_024809.5(TCTN2):c.598C>T (p.Arg200Trp) rs371559095 0.00006
NM_024809.5(TCTN2):c.76G>T (p.Asp26Tyr) rs147746146 0.00006
NM_024809.5(TCTN2):c.910T>C (p.Cys304Arg) rs765523709 0.00006
NM_025114.4(CEP290):c.3573+3A>G rs199520739 0.00006
NM_025114.4(CEP290):c.4063C>T (p.Arg1355Cys) rs376425111 0.00006
NM_025114.4(CEP290):c.4411C>T (p.Arg1471Trp) rs771110294 0.00006
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg) rs199826787 0.00006
NM_025114.4(CEP290):c.4805C>T (p.Thr1602Met) rs369451049 0.00006
NM_025114.4(CEP290):c.7340A>C (p.Lys2447Thr) rs201382524 0.00006
NM_025114.4(CEP290):c.755A>T (p.Lys252Met) rs991079890 0.00006
NM_153704.6(TMEM67):c.2100+5A>G rs545189546 0.00006
NM_153704.6(TMEM67):c.2634T>G (p.Asn878Lys) rs192288680 0.00006
NM_153704.6(TMEM67):c.651+5G>A rs970248353 0.00006
NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala) rs202036490 0.00006
NM_001082538.3(TCTN1):c.1739A>G (p.Asn580Ser) rs757300709 0.00005
NM_001082538.3(TCTN1):c.211G>A (p.Val71Ile) rs776696098 0.00005
NM_001134831.2(AHI1):c.2453A>G (p.His818Arg) rs371891688 0.00005
NM_001134831.2(AHI1):c.493G>A (p.Val165Ile) rs755936005 0.00005
NM_001378615.1(CC2D2A):c.157G>A (p.Glu53Lys) rs373080748 0.00005
NM_001378615.1(CC2D2A):c.1645G>A (p.Glu549Lys) rs368788560 0.00005
NM_001378615.1(CC2D2A):c.3514A>G (p.Ser1172Gly) rs371924209 0.00005
NM_001378615.1(CC2D2A):c.4540C>T (p.Arg1514Cys) rs756324214 0.00005
NM_015272.5(RPGRIP1L):c.1029+3A>C rs778583149 0.00005
NM_015272.5(RPGRIP1L):c.1331G>A (p.Arg444His) rs76600508 0.00005
NM_015272.5(RPGRIP1L):c.1631A>G (p.Tyr544Cys) rs139964287 0.00005
NM_015272.5(RPGRIP1L):c.2414G>A (p.Arg805Gln) rs532412372 0.00005
NM_015272.5(RPGRIP1L):c.821A>T (p.Gln274Leu) rs141574764 0.00005
NM_015272.5(RPGRIP1L):c.910G>A (p.Asp304Asn) rs530772984 0.00005
NM_019892.6(INPP5E):c.1051C>T (p.Arg351Cys) rs764667114 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_024809.5(TCTN2):c.259C>T (p.Pro87Ser) rs138562955 0.00005
NM_024809.5(TCTN2):c.267+3A>G rs748772785 0.00005
NM_024809.5(TCTN2):c.82+11C>T rs377654309 0.00005
NM_025114.4(CEP290):c.1105G>A (p.Glu369Lys) rs373414042 0.00005
NM_025114.4(CEP290):c.4186C>G (p.Gln1396Glu) rs1459653241 0.00005
NM_025114.4(CEP290):c.4865G>A (p.Arg1622His) rs758453972 0.00005
NM_025114.4(CEP290):c.998A>C (p.Asn333Thr) rs376033047 0.00005
NM_153704.6(TMEM67):c.1561C>T (p.His521Tyr) rs558566529 0.00005
NM_153704.6(TMEM67):c.1823G>A (p.Arg608His) rs146130549 0.00005
NM_153704.6(TMEM67):c.453G>C (p.Glu151Asp) rs200155700 0.00005
NM_153704.6(TMEM67):c.507G>A (p.Arg169=) rs759319668 0.00005
NM_001082538.3(TCTN1):c.1540A>G (p.Ile514Val) rs371539069 0.00004
NM_001082538.3(TCTN1):c.644C>A (p.Thr215Asn) rs545613207 0.00004
NM_001134831.2(AHI1):c.128A>G (p.Asn43Ser) rs367736269 0.00004
NM_001134831.2(AHI1):c.1594G>A (p.Val532Ile) rs761804458 0.00004
NM_001134831.2(AHI1):c.2039T>C (p.Ile680Thr) rs761596435 0.00004
NM_001134831.2(AHI1):c.2407A>G (p.Ile803Val) rs763696602 0.00004
NM_001134831.2(AHI1):c.2432A>G (p.Asn811Ser) rs375584168 0.00004
NM_001134831.2(AHI1):c.2672G>A (p.Arg891Gln) rs200816459 0.00004
NM_001134831.2(AHI1):c.3236G>A (p.Arg1079Gln) rs371242173 0.00004
NM_001134831.2(AHI1):c.3274A>C (p.Ser1092Arg) rs375028507 0.00004
NM_001134831.2(AHI1):c.3373C>T (p.Pro1125Ser) rs1020870112 0.00004
NM_001134831.2(AHI1):c.3478A>G (p.Met1160Val) rs200250333 0.00004
NM_001173990.3(TMEM216):c.254G>A (p.Arg85Gln) rs368617773 0.00004
NM_001173990.3(TMEM216):c.277G>A (p.Val93Met) rs541257103 0.00004
NM_001173990.3(TMEM216):c.344G>A (p.Arg115His) rs752216307 0.00004
NM_001378615.1(CC2D2A):c.1091C>T (p.Pro364Leu) rs768618373 0.00004
NM_001378615.1(CC2D2A):c.1340C>T (p.Ala447Val) rs775138548 0.00004
NM_001378615.1(CC2D2A):c.2101C>G (p.Leu701Val) rs537906621 0.00004
NM_001378615.1(CC2D2A):c.2181+6C>T rs997637353 0.00004
NM_001378615.1(CC2D2A):c.298A>C (p.Met100Leu) rs370014549 0.00004
NM_001378615.1(CC2D2A):c.3065G>A (p.Arg1022Gln) rs770896540 0.00004
NM_001378615.1(CC2D2A):c.308G>A (p.Arg103His) rs566281691 0.00004
NM_001378615.1(CC2D2A):c.3640T>C (p.Tyr1214His) rs759970546 0.00004
NM_001378615.1(CC2D2A):c.4340A>C (p.Glu1447Ala) rs387907058 0.00004
NM_001378615.1(CC2D2A):c.4766C>G (p.Pro1589Arg) rs374301736 0.00004
NM_001378615.1(CC2D2A):c.541G>A (p.Val181Ile) rs745646755 0.00004
NM_001378615.1(CC2D2A):c.970C>T (p.Arg324Cys) rs376969878 0.00004
NM_003611.3(OFD1):c.1490A>C (p.His497Pro) rs772474080 0.00004
NM_003611.3(OFD1):c.2239G>A (p.Glu747Lys) rs761915805 0.00004
NM_003611.3(OFD1):c.2700C>A (p.Asn900Lys) rs770634301 0.00004
NM_015272.5(RPGRIP1L):c.1061A>G (p.Glu354Gly) rs752128105 0.00004
NM_015272.5(RPGRIP1L):c.1401+4A>G rs727503880 0.00004
NM_015272.5(RPGRIP1L):c.1448T>C (p.Val483Ala) rs146565951 0.00004
NM_015272.5(RPGRIP1L):c.1592A>G (p.Glu531Gly) rs794727129 0.00004
NM_015272.5(RPGRIP1L):c.1628A>G (p.Asp543Gly) rs776600721 0.00004
NM_015272.5(RPGRIP1L):c.1805G>A (p.Arg602Gln) rs902687917 0.00004
NM_015272.5(RPGRIP1L):c.1886C>T (p.Pro629Leu) rs374098422 0.00004
NM_015272.5(RPGRIP1L):c.2167A>G (p.Ile723Val) rs769280712 0.00004
NM_015272.5(RPGRIP1L):c.2815G>A (p.Glu939Lys) rs371763050 0.00004
NM_015272.5(RPGRIP1L):c.3362C>T (p.Pro1121Leu) rs886052093 0.00004
NM_015272.5(RPGRIP1L):c.341A>G (p.Gln114Arg) rs201413825 0.00004
NM_015272.5(RPGRIP1L):c.3448C>T (p.Arg1150Trp) rs750930363 0.00004
NM_015272.5(RPGRIP1L):c.3739G>A (p.Glu1247Lys) rs201312119 0.00004
NM_015272.5(RPGRIP1L):c.709A>T (p.Arg237Trp) rs369055168 0.00004
NM_015681.6(B9D1):c.301C>G (p.Arg101Gly) rs752718131 0.00004
NM_015681.6(B9D1):c.41A>G (p.Asn14Ser) rs764022966 0.00004
NM_015681.6(B9D1):c.469G>A (p.Glu157Lys) rs146272049 0.00004
NM_017777.4(MKS1):c.1273+6C>T rs371480628 0.00004
NM_017777.4(MKS1):c.36G>T (p.Glu12Asp) rs1386455261 0.00004
NM_017777.4(MKS1):c.869G>A (p.Arg290Gln) rs755840522 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.1389G>A (p.Ala463=) rs779735920 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.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_024809.5(TCTN2):c.1055T>A (p.Ile352Asn) rs762326056 0.00004
NM_024809.5(TCTN2):c.1337G>A (p.Arg446Gln) rs781699024 0.00004
NM_024809.5(TCTN2):c.1402G>A (p.Gly468Ser) rs148262537 0.00004
NM_024809.5(TCTN2):c.1474G>T (p.Val492Phe) rs1449279317 0.00004
NM_024809.5(TCTN2):c.2066G>C (p.Trp689Ser) rs771335558 0.00004
NM_024809.5(TCTN2):c.577A>C (p.Asn193His) rs370944870 0.00004
NM_024809.5(TCTN2):c.979T>C (p.Tyr327His) rs545101214 0.00004
NM_025114.4(CEP290):c.1712-3T>C rs376688469 0.00004
NM_025114.4(CEP290):c.1945G>A (p.Glu649Lys) rs761705359 0.00004
NM_025114.4(CEP290):c.2129G>C (p.Gly710Ala) rs969763835 0.00004
NM_025114.4(CEP290):c.2218A>G (p.Ile740Val) rs754736974 0.00004
NM_025114.4(CEP290):c.2740A>G (p.Asn914Asp) rs372321551 0.00004
NM_025114.4(CEP290):c.3028A>G (p.Ile1010Val) rs1038566350 0.00004
NM_025114.4(CEP290):c.3230A>G (p.Gln1077Arg) rs200668620 0.00004
NM_025114.4(CEP290):c.332G>A (p.Arg111Gln) rs562747993 0.00004
NM_025114.4(CEP290):c.3758G>A (p.Arg1253His) rs763801479 0.00004
NM_025114.4(CEP290):c.3791G>A (p.Arg1264His) rs774144082 0.00004
NM_025114.4(CEP290):c.4064G>A (p.Arg1355His) rs548558619 0.00004
NM_025114.4(CEP290):c.4132A>G (p.Ile1378Val) rs532041890 0.00004
NM_025114.4(CEP290):c.4151G>A (p.Arg1384His) rs143152287 0.00004
NM_025114.4(CEP290):c.4240C>G (p.Leu1414Val) rs762417751 0.00004
NM_025114.4(CEP290):c.4523G>A (p.Arg1508Gln) rs568197175 0.00004
NM_025114.4(CEP290):c.5186G>A (p.Arg1729Gln) rs535531689 0.00004
NM_025114.4(CEP290):c.5665G>C (p.Glu1889Gln) rs186330724 0.00004
NM_025114.4(CEP290):c.5724A>C (p.Glu1908Asp) rs769370948 0.00004
NM_025114.4(CEP290):c.6191A>G (p.Glu2064Gly) rs987259388 0.00004
NM_025114.4(CEP290):c.7079A>C (p.His2360Pro) rs1006780282 0.00004
NM_025114.4(CEP290):c.814G>A (p.Asp272Asn) rs866480852 0.00004
NM_153704.6(TMEM67):c.1033A>G (p.Lys345Glu) rs764304394 0.00004
NM_153704.6(TMEM67):c.1352G>A (p.Arg451Gln) rs75165625 0.00004
NM_153704.6(TMEM67):c.224G>A (p.Gly75Glu) rs780823805 0.00004
NM_153704.6(TMEM67):c.2556+4T>G rs772449181 0.00004
NM_153704.6(TMEM67):c.2848G>A (p.Val950Met) rs771551765 0.00004
NM_153704.6(TMEM67):c.2932G>A (p.Val978Ile) rs371965185 0.00004
NM_153704.6(TMEM67):c.31A>G (p.Met11Val) rs758761945 0.00004
NM_153704.6(TMEM67):c.599G>A (p.Ser200Asn) rs1284289042 0.00004
NM_153704.6(TMEM67):c.978+5A>C rs1022082198 0.00004
NM_153704.6(TMEM67):c.991A>C (p.Lys331Gln) rs769351856 0.00004
NM_001082538.3(TCTN1):c.1282C>T (p.Arg428Trp) rs572643772 0.00003
NM_001082538.3(TCTN1):c.1421T>C (p.Phe474Ser) rs368668920 0.00003
NM_001082538.3(TCTN1):c.1463T>C (p.Ile488Thr) rs1291891063 0.00003
NM_001082538.3(TCTN1):c.438T>G (p.Ile146Met) rs370390020 0.00003
NM_001082538.3(TCTN1):c.527A>G (p.Asp176Gly) rs771704189 0.00003
NM_001134831.2(AHI1):c.2660A>G (p.Lys887Arg) rs200355875 0.00003
NM_001134831.2(AHI1):c.2761C>T (p.His921Tyr) rs367875262 0.00003
NM_001134831.2(AHI1):c.3160C>G (p.Pro1054Ala) rs201691998 0.00003
NM_001134831.2(AHI1):c.3329C>T (p.Thr1110Ile) rs891027780 0.00003
NM_001134831.2(AHI1):c.3448T>A (p.Ser1150Thr) rs750439539 0.00003
NM_001173990.3(TMEM216):c.382T>C (p.Cys128Arg) rs35314485 0.00003
NM_001378615.1(CC2D2A):c.1093C>G (p.Pro365Ala) rs375385399 0.00003
NM_001378615.1(CC2D2A):c.10A>G (p.Arg4Gly) rs758963962 0.00003
NM_001378615.1(CC2D2A):c.1153G>A (p.Val385Ile) rs1401215213 0.00003
NM_001378615.1(CC2D2A):c.1426A>G (p.Thr476Ala) rs777726035 0.00003
NM_001378615.1(CC2D2A):c.1451A>G (p.Tyr484Cys) rs746279803 0.00003
NM_001378615.1(CC2D2A):c.2141A>G (p.Asn714Ser) rs771224275 0.00003
NM_001378615.1(CC2D2A):c.2323G>A (p.Glu775Lys) rs751808973 0.00003
NM_001378615.1(CC2D2A):c.248G>A (p.Ser83Asn) rs930307925 0.00003
NM_001378615.1(CC2D2A):c.2519T>C (p.Ile840Thr) rs373111926 0.00003
NM_001378615.1(CC2D2A):c.2885A>G (p.Asp962Gly) rs201631131 0.00003
NM_001378615.1(CC2D2A):c.3631C>G (p.Leu1211Val) rs753905430 0.00003
NM_001378615.1(CC2D2A):c.3883G>A (p.Gly1295Arg) rs763466980 0.00003
NM_001378615.1(CC2D2A):c.389G>A (p.Arg130His) rs778519147 0.00003
NM_001378615.1(CC2D2A):c.4407C>G (p.Ser1469Arg) rs587779732 0.00003
NM_001378615.1(CC2D2A):c.4738A>G (p.Ser1580Gly) rs377460557 0.00003
NM_001378615.1(CC2D2A):c.4762G>A (p.Val1588Ile) rs1323627048 0.00003
NM_003611.3(OFD1):c.2030A>T (p.Glu677Val) rs370183911 0.00003
NM_003611.3(OFD1):c.2177G>A (p.Arg726His) rs750984782 0.00003
NM_015272.5(RPGRIP1L):c.1154T>G (p.Leu385Arg) rs750446830 0.00003
NM_015272.5(RPGRIP1L):c.1393C>T (p.Leu465Phe) rs758403877 0.00003
NM_015272.5(RPGRIP1L):c.140G>A (p.Arg47His) rs773558676 0.00003
NM_015272.5(RPGRIP1L):c.1480T>G (p.Ser494Ala) rs202201818 0.00003
NM_015272.5(RPGRIP1L):c.167G>A (p.Arg56His) rs374157187 0.00003
NM_015272.5(RPGRIP1L):c.1721A>G (p.Tyr574Cys) rs766404857 0.00003
NM_015272.5(RPGRIP1L):c.1816C>G (p.Leu606Val) rs552056656 0.00003
NM_015272.5(RPGRIP1L):c.1939G>A (p.Val647Ile) rs145572901 0.00003
NM_015272.5(RPGRIP1L):c.2104G>A (p.Glu702Lys) rs199975230 0.00003
NM_015272.5(RPGRIP1L):c.2161G>A (p.Gly721Arg) rs780023355 0.00003
NM_015272.5(RPGRIP1L):c.2425C>G (p.Leu809Val) rs370180090 0.00003
NM_015272.5(RPGRIP1L):c.250C>T (p.Arg84Trp) rs770098954 0.00003
NM_015272.5(RPGRIP1L):c.2542A>G (p.Met848Val) rs767112083 0.00003
NM_015272.5(RPGRIP1L):c.2806A>G (p.Ile936Val) rs763369161 0.00003
NM_015272.5(RPGRIP1L):c.3013A>G (p.Ile1005Val) rs780310164 0.00003
NM_015272.5(RPGRIP1L):c.3202G>A (p.Glu1068Lys) rs771457754 0.00003
NM_015272.5(RPGRIP1L):c.3203A>G (p.Glu1068Gly) rs372404481 0.00003
NM_015272.5(RPGRIP1L):c.3331G>A (p.Ala1111Thr) rs973841786 0.00003
NM_015272.5(RPGRIP1L):c.3355C>T (p.Arg1119Cys) rs1030543863 0.00003
NM_015272.5(RPGRIP1L):c.3715G>A (p.Val1239Met) rs142387463 0.00003
NM_015272.5(RPGRIP1L):c.3769G>A (p.Val1257Met) rs536037779 0.00003
NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser) rs377402117 0.00003
NM_015272.5(RPGRIP1L):c.3920A>G (p.Lys1307Arg) rs139246920 0.00003
NM_015272.5(RPGRIP1L):c.663G>T (p.Gln221His) rs776104875 0.00003
NM_015272.5(RPGRIP1L):c.767C>T (p.Thr256Ile) rs151174849 0.00003
NM_015272.5(RPGRIP1L):c.854T>C (p.Met285Thr) rs772520453 0.00003
NM_015681.6(B9D1):c.109G>A (p.Gly37Ser) rs771997194 0.00003
NM_015681.6(B9D1):c.421C>T (p.Arg141Trp) rs752121172 0.00003
NM_015681.6(B9D1):c.603C>A (p.Ser201Arg) rs547869203 0.00003
NM_017777.4(MKS1):c.1175C>T (p.Pro392Leu) rs763534380 0.00003
NM_017777.4(MKS1):c.1387C>T (p.Arg463Trp) rs766392300 0.00003
NM_017777.4(MKS1):c.1528C>T (p.Arg510Trp) rs757310695 0.00003
NM_017777.4(MKS1):c.1534G>A (p.Val512Met) rs370130538 0.00003
NM_017777.4(MKS1):c.1543C>T (p.Arg515Cys) rs775558298 0.00003
NM_017777.4(MKS1):c.314A>C (p.Tyr105Ser) rs1440792737 0.00003
NM_017777.4(MKS1):c.835C>T (p.Arg279Trp) rs189255737 0.00003
NM_017777.4(MKS1):c.904G>A (p.Asp302Asn) rs750025608 0.00003
NM_019892.6(INPP5E):c.1162G>T (p.Val388Leu) rs863225201 0.00003
NM_019892.6(INPP5E):c.1534C>T (p.Arg512Trp) rs374152018 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.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.872C>T (p.Ala291Val) rs759397125 0.00003
NM_024809.5(TCTN2):c.1990C>G (p.Leu664Val) rs554299771 0.00003
NM_024809.5(TCTN2):c.271G>T (p.Val91Leu) rs371662397 0.00003
NM_024809.5(TCTN2):c.325G>A (p.Glu109Lys) rs773010019 0.00003
NM_024809.5(TCTN2):c.412C>T (p.Leu138Phe) rs372053991 0.00003
NM_024809.5(TCTN2):c.449C>G (p.Thr150Ser) rs759741387 0.00003
NM_024809.5(TCTN2):c.679G>C (p.Gly227Arg) rs1051821648 0.00003
NM_024809.5(TCTN2):c.781T>C (p.Ser261Pro) rs140814969 0.00003
NM_025114.4(CEP290):c.1192G>T (p.Ala398Ser) rs764079993 0.00003
NM_025114.4(CEP290):c.1359G>A (p.Ser453=) rs779195306 0.00003
NM_025114.4(CEP290):c.1387G>A (p.Val463Ile) rs558414868 0.00003
NM_025114.4(CEP290):c.1669C>T (p.Arg557Cys) rs561018129 0.00003
NM_025114.4(CEP290):c.2029C>T (p.Pro677Ser) rs375523390 0.00003
NM_025114.4(CEP290):c.2367+4T>C rs1413934261 0.00003
NM_025114.4(CEP290):c.2447G>A (p.Arg816His) rs768448895 0.00003
NM_025114.4(CEP290):c.3178A>G (p.Thr1060Ala) rs948383352 0.00003
NM_025114.4(CEP290):c.3593C>T (p.Ser1198Leu) rs372640024 0.00003
NM_025114.4(CEP290):c.3664G>A (p.Glu1222Lys) rs770015278 0.00003
NM_025114.4(CEP290):c.4121A>G (p.Tyr1374Cys) rs1337676817 0.00003
NM_025114.4(CEP290):c.4837C>G (p.Pro1613Ala) rs769280708 0.00003
NM_025114.4(CEP290):c.4972A>G (p.Thr1658Ala) rs1237184267 0.00003
NM_025114.4(CEP290):c.5010A>C (p.Leu1670Phe) rs1264789609 0.00003
NM_025114.4(CEP290):c.514A>C (p.Lys172Gln) rs765944337 0.00003
NM_025114.4(CEP290):c.534G>T (p.Gln178His) rs368025801 0.00003
NM_025114.4(CEP290):c.5552A>T (p.Lys1851Ile) rs372565248 0.00003
NM_025114.4(CEP290):c.5753G>T (p.Trp1918Leu) rs371737956 0.00003
NM_025114.4(CEP290):c.6752C>G (p.Ala2251Gly) rs758864226 0.00003
NM_025114.4(CEP290):c.6820A>G (p.Met2274Val) rs1326611388 0.00003
NM_025114.4(CEP290):c.7070A>G (p.Glu2357Gly) rs759725378 0.00003
NM_025114.4(CEP290):c.7126C>T (p.Pro2376Ser) rs754462052 0.00003
NM_025114.4(CEP290):c.7397T>A (p.Phe2466Tyr) rs1159836808 0.00003
NM_030578.4(B9D2):c.262C>T (p.Arg88Cys) rs781608263 0.00003
NM_030578.4(B9D2):c.263G>A (p.Arg88His) rs748803301 0.00003
NM_030578.4(B9D2):c.374G>A (p.Arg125Gln) rs1054797 0.00003
NM_153704.6(TMEM67):c.1177A>G (p.Ile393Val) rs755280678 0.00003
NM_153704.6(TMEM67):c.1495G>T (p.Asp499Tyr) rs758803102 0.00003
NM_153704.6(TMEM67):c.1700A>G (p.Tyr567Cys) rs148726767 0.00003
NM_153704.6(TMEM67):c.2783G>A (p.Ser928Asn) rs538380011 0.00003
NM_153704.6(TMEM67):c.2923C>T (p.Arg975Cys) rs375719305 0.00003
NM_153704.6(TMEM67):c.2924G>A (p.Arg975His) rs191759530 0.00003
NM_153704.6(TMEM67):c.326A>G (p.Glu109Gly) rs372886148 0.00003
NM_153704.6(TMEM67):c.87C>A (p.Phe29Leu) rs766782158 0.00003
NM_001082538.3(TCTN1):c.1271T>C (p.Leu424Pro) rs751036661 0.00002
NM_001082538.3(TCTN1):c.292A>G (p.Ser98Gly) rs777999729 0.00002
NM_001082538.3(TCTN1):c.574T>A (p.Tyr192Asn) rs370252911 0.00002
NM_001082538.3(TCTN1):c.823-3T>A rs757410579 0.00002
NM_001082538.3(TCTN1):c.865A>G (p.Ile289Val) rs1035223063 0.00002
NM_001134831.2(AHI1):c.1272T>G (p.Ile424Met) rs752889085 0.00002
NM_001134831.2(AHI1):c.1363G>A (p.Val455Met) rs775076049 0.00002
NM_001134831.2(AHI1):c.1405T>C (p.Cys469Arg) rs539194432 0.00002
NM_001134831.2(AHI1):c.1507A>G (p.Thr503Ala) rs946149286 0.00002
NM_001134831.2(AHI1):c.170A>G (p.Lys57Arg) rs762906949 0.00002
NM_001134831.2(AHI1):c.1766G>A (p.Arg589Gln) rs757910826 0.00002
NM_001134831.2(AHI1):c.1859A>G (p.Asn620Ser) rs773892320 0.00002
NM_001134831.2(AHI1):c.1891C>T (p.Arg631Trp) rs748010693 0.00002
NM_001134831.2(AHI1):c.191C>A (p.Pro64His) rs574938408 0.00002
NM_001134831.2(AHI1):c.193G>A (p.Asp65Asn) rs1001283344 0.00002
NM_001134831.2(AHI1):c.194A>C (p.Asp65Ala) rs764230638 0.00002
NM_001134831.2(AHI1):c.2037-3C>G rs1206317271 0.00002
NM_001134831.2(AHI1):c.214C>A (p.Pro72Thr) rs1173813597 0.00002
NM_001134831.2(AHI1):c.224A>T (p.Lys75Ile) rs747661291 0.00002
NM_001134831.2(AHI1):c.2267G>C (p.Gly756Ala) rs372012542 0.00002
NM_001134831.2(AHI1):c.242A>G (p.Asp81Gly) rs538208208 0.00002
NM_001134831.2(AHI1):c.2489G>A (p.Arg830Gln) rs775785006 0.00002
NM_001134831.2(AHI1):c.2560T>C (p.Cys854Arg) rs1387769677 0.00002
NM_001134831.2(AHI1):c.2813C>T (p.Pro938Leu) rs1170550561 0.00002
NM_001134831.2(AHI1):c.2951A>T (p.Glu984Val) rs780642756 0.00002
NM_001134831.2(AHI1):c.3070G>A (p.Ala1024Thr) rs750383545 0.00002
NM_001134831.2(AHI1):c.3108C>T (p.Thr1036=) rs761976492 0.00002
NM_001134831.2(AHI1):c.3245T>G (p.Phe1082Cys) rs763991049 0.00002
NM_001134831.2(AHI1):c.3328A>G (p.Thr1110Ala) rs1380307778 0.00002
NM_001134831.2(AHI1):c.3365G>A (p.Arg1122Gln) rs372888581 0.00002
NM_001134831.2(AHI1):c.3588G>A (p.Glu1196=) rs201791936 0.00002
NM_001134831.2(AHI1):c.652T>C (p.Tyr218His) rs758481039 0.00002
NM_001134831.2(AHI1):c.670T>G (p.Leu224Val) rs767206985 0.00002
NM_001134831.2(AHI1):c.68A>T (p.His23Leu) rs746992537 0.00002
NM_001134831.2(AHI1):c.868G>A (p.Glu290Lys) rs763856608 0.00002
NM_001134831.2(AHI1):c.995C>T (p.Pro332Leu) rs773359044 0.00002
NM_001173990.3(TMEM216):c.26C>T (p.Ala9Val) rs1441727203 0.00002
NM_001173990.3(TMEM216):c.335A>G (p.Tyr112Cys) rs1170057144 0.00002
NM_001378615.1(CC2D2A):c.1017C>T (p.Pro339=) rs777522814 0.00002
NM_001378615.1(CC2D2A):c.1081C>T (p.Pro361Ser) rs748850069 0.00002
NM_001378615.1(CC2D2A):c.1198C>G (p.Pro400Ala) rs759074579 0.00002
NM_001378615.1(CC2D2A):c.1444A>G (p.Asn482Asp) rs777022662 0.00002
NM_001378615.1(CC2D2A):c.152T>C (p.Val51Ala) rs375163284 0.00002
NM_001378615.1(CC2D2A):c.166C>T (p.His56Tyr) rs758324715 0.00002
NM_001378615.1(CC2D2A):c.1820T>C (p.Ile607Thr) rs771221391 0.00002
NM_001378615.1(CC2D2A):c.1829C>T (p.Pro610Leu) rs376457814 0.00002
NM_001378615.1(CC2D2A):c.1994A>G (p.Gln665Arg) rs1718235188 0.00002
NM_001378615.1(CC2D2A):c.2025G>C (p.Glu675Asp) rs756383263 0.00002
NM_001378615.1(CC2D2A):c.245G>A (p.Arg82Gln) rs527974001 0.00002
NM_001378615.1(CC2D2A):c.2593C>T (p.Pro865Ser) rs1376846940 0.00002
NM_001378615.1(CC2D2A):c.2639G>A (p.Gly880Asp) rs541135799 0.00002
NM_001378615.1(CC2D2A):c.2641G>C (p.Glu881Gln) rs760405029 0.00002
NM_001378615.1(CC2D2A):c.2736G>C (p.Arg912Ser) rs1471618183 0.00002
NM_001378615.1(CC2D2A):c.2842C>T (p.Arg948Trp) rs563295435 0.00002
NM_001378615.1(CC2D2A):c.3082C>T (p.Arg1028Trp) rs770004990 0.00002
NM_001378615.1(CC2D2A):c.3199T>C (p.Ser1067Pro) rs781259863 0.00002
NM_001378615.1(CC2D2A):c.3230_3232dup (p.His1077_Ala1078insAsp) rs756426571 0.00002
NM_001378615.1(CC2D2A):c.3256C>A (p.Pro1086Thr) rs756918920 0.00002
NM_001378615.1(CC2D2A):c.3298C>T (p.Arg1100Cys) rs767086890 0.00002
NM_001378615.1(CC2D2A):c.3374A>G (p.Asn1125Ser) rs746358327 0.00002
NM_001378615.1(CC2D2A):c.3596T>C (p.Ile1199Thr) rs760918829 0.00002
NM_001378615.1(CC2D2A):c.3773T>C (p.Phe1258Ser) rs1485903880 0.00002
NM_001378615.1(CC2D2A):c.4022C>G (p.Thr1341Ser) rs745599580 0.00002
NM_001378615.1(CC2D2A):c.4345C>G (p.Pro1449Ala) rs375410796 0.00002
NM_001378615.1(CC2D2A):c.4635C>A (p.Asp1545Glu) rs776642347 0.00002
NM_001378615.1(CC2D2A):c.4724T>C (p.Ile1575Thr) rs551243983 0.00002
NM_001378615.1(CC2D2A):c.4838T>C (p.Val1613Ala) rs769264337 0.00002
NM_001378615.1(CC2D2A):c.566A>G (p.Glu189Gly) rs762024789 0.00002
NM_001378615.1(CC2D2A):c.56A>T (p.Asp19Val) rs1403239059 0.00002
NM_001378615.1(CC2D2A):c.778G>A (p.Val260Met) rs918403472 0.00002
NM_001378615.1(CC2D2A):c.823A>G (p.Ile275Val) rs368471984 0.00002
NM_003611.3(OFD1):c.1025A>G (p.Tyr342Cys) rs758712291 0.00002
NM_003611.3(OFD1):c.1639A>G (p.Lys547Glu) rs1054393663 0.00002
NM_003611.3(OFD1):c.1646C>T (p.Thr549Ile) rs1275319013 0.00002
NM_003611.3(OFD1):c.195A>C (p.Glu65Asp) rs1060500184 0.00002
NM_003611.3(OFD1):c.2078G>A (p.Gly693Glu) rs754615597 0.00002
NM_003611.3(OFD1):c.2168C>T (p.Ser723Leu) rs746300545 0.00002
NM_003611.3(OFD1):c.2176C>T (p.Arg726Cys) rs1260959326 0.00002
NM_003611.3(OFD1):c.2197C>T (p.Arg733Cys) rs1376239977 0.00002
NM_003611.3(OFD1):c.2258A>C (p.Glu753Ala) rs1382696572 0.00002
NM_003611.3(OFD1):c.2788A>T (p.Ile930Leu) rs745495276 0.00002
NM_003611.3(OFD1):c.2927A>C (p.Lys976Thr) rs1458317780 0.00002
NM_003611.3(OFD1):c.3G>A (p.Met1Ile) rs778840618 0.00002
NM_003611.3(OFD1):c.634C>T (p.Arg212Trp) rs776834508 0.00002
NM_003611.3(OFD1):c.656T>G (p.Leu219Trp) rs780055525 0.00002
NM_003611.3(OFD1):c.710A>G (p.Lys237Arg) rs1179498927 0.00002
NM_015272.5(RPGRIP1L):c.1604G>A (p.Arg535His) rs371028848 0.00002
NM_015272.5(RPGRIP1L):c.1772T>C (p.Val591Ala) rs201131571 0.00002
NM_015272.5(RPGRIP1L):c.1880A>C (p.Lys627Thr) rs377035693 0.00002
NM_015272.5(RPGRIP1L):c.1952T>C (p.Leu651Pro) rs752598081 0.00002
NM_015272.5(RPGRIP1L):c.2038C>T (p.Leu680Phe) rs758370789 0.00002
NM_015272.5(RPGRIP1L):c.2118A>C (p.Lys706Asn) rs759934290 0.00002
NM_015272.5(RPGRIP1L):c.2122G>A (p.Gly708Ser) rs565152814 0.00002
NM_015272.5(RPGRIP1L):c.2629A>G (p.Ile877Val) rs779895977 0.00002
NM_015272.5(RPGRIP1L):c.2677A>T (p.Ile893Phe) rs748601161 0.00002
NM_015272.5(RPGRIP1L):c.281G>A (p.Arg94Gln) rs549881475 0.00002
NM_015272.5(RPGRIP1L):c.302G>A (p.Arg101Gln) rs146484603 0.00002
NM_015272.5(RPGRIP1L):c.3206A>G (p.Asp1069Gly) rs200726671 0.00002
NM_015272.5(RPGRIP1L):c.3274A>G (p.Ile1092Val) rs1965837844 0.00002
NM_015272.5(RPGRIP1L):c.3335T>A (p.Ile1112Asn) rs986384855 0.00002
NM_015272.5(RPGRIP1L):c.3449G>A (p.Arg1150Gln) rs376330325 0.00002
NM_015272.5(RPGRIP1L):c.3625G>A (p.Val1209Met) rs373993184 0.00002
NM_015272.5(RPGRIP1L):c.3707G>A (p.Arg1236His) rs1410635948 0.00002
NM_015272.5(RPGRIP1L):c.3835+3A>G rs769218955 0.00002
NM_015272.5(RPGRIP1L):c.494A>G (p.Asn165Ser) rs749282106 0.00002
NM_015272.5(RPGRIP1L):c.634G>C (p.Glu212Gln) rs766043636 0.00002
NM_015272.5(RPGRIP1L):c.659G>A (p.Gly220Asp) rs139259555 0.00002
NM_015272.5(RPGRIP1L):c.85G>A (p.Glu29Lys) rs771740102 0.00002
NM_015681.6(B9D1):c.256G>A (p.Val86Met) rs776537604 0.00002
NM_015681.6(B9D1):c.380C>T (p.Thr127Met) rs779138882 0.00002
NM_015681.6(B9D1):c.427G>A (p.Glu143Lys) rs1490515097 0.00002
NM_017777.4(MKS1):c.1095G>C (p.Met365Ile) rs1440032995 0.00002
NM_017777.4(MKS1):c.1316T>C (p.Leu439Pro) rs1325790652 0.00002
NM_017777.4(MKS1):c.1477C>A (p.Leu493Met) rs761944624 0.00002
NM_017777.4(MKS1):c.1592C>A (p.Ala531Asp) rs751294519 0.00002
NM_017777.4(MKS1):c.1606C>T (p.Arg536Trp) rs768171144 0.00002
NM_017777.4(MKS1):c.1613G>A (p.Arg538His) rs557678962 0.00002
NM_017777.4(MKS1):c.1678T>C (p.Ter560Gln) rs1286667377 0.00002
NM_017777.4(MKS1):c.428G>T (p.Arg143Ile) rs758424317 0.00002
NM_017777.4(MKS1):c.493C>T (p.Arg165Cys) rs779953982 0.00002
NM_017777.4(MKS1):c.494G>A (p.Arg165His) rs771709346 0.00002
NM_017777.4(MKS1):c.538C>T (p.Arg180Cys) rs559966703 0.00002
NM_017777.4(MKS1):c.841C>T (p.Arg281Trp) rs780007842 0.00002
NM_019892.5(INPP5E):c.-7_2dup9 rs1489150239 0.00002
NM_019892.6(INPP5E):c.1108G>A (p.Val370Met) rs147531141 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.1403G>A (p.Arg468His) rs112089228 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.161C>T (p.Thr54Ile) rs1234082483 0.00002
NM_019892.6(INPP5E):c.1666-12A>G rs372545147 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.1868C>T (p.Ser623Leu) rs754887212 0.00002
NM_019892.6(INPP5E):c.18G>C (p.Glu6Asp) rs1461388293 0.00002
NM_019892.6(INPP5E):c.676C>T (p.Leu226Phe) rs761485683 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_024809.5(TCTN2):c.1612+3A>G rs918049258 0.00002
NM_024809.5(TCTN2):c.1612C>T (p.Arg538Cys) rs561214391 0.00002
NM_024809.5(TCTN2):c.1813G>A (p.Glu605Lys) rs768079186 0.00002
NM_024809.5(TCTN2):c.1818C>G (p.His606Gln) rs778418417 0.00002
NM_024809.5(TCTN2):c.1967G>C (p.Trp656Ser) rs200159224 0.00002
NM_024809.5(TCTN2):c.305T>C (p.Leu102Pro) rs779547974 0.00002
NM_024809.5(TCTN2):c.349C>T (p.Pro117Ser) rs148783076 0.00002
NM_024809.5(TCTN2):c.523T>G (p.Leu175Val) rs768824874 0.00002
NM_024809.5(TCTN2):c.548G>A (p.Arg183His) rs369164141 0.00002
NM_025114.4(CEP290):c.1094A>C (p.Lys365Thr) rs1250515491 0.00002
NM_025114.4(CEP290):c.1235C>T (p.Thr412Met) rs189280108 0.00002
NM_025114.4(CEP290):c.1288G>C (p.Ala430Pro) rs767366207 0.00002
NM_025114.4(CEP290):c.1448C>T (p.Thr483Ile) rs373303674 0.00002
NM_025114.4(CEP290):c.1460A>G (p.Asn487Ser) rs1331263277 0.00002
NM_025114.4(CEP290):c.1677G>C (p.Met559Ile) rs1000099371 0.00002
NM_025114.4(CEP290):c.1756G>A (p.Gly586Arg) rs759047003 0.00002
NM_025114.4(CEP290):c.2060A>T (p.Glu687Val) rs932362741 0.00002
NM_025114.4(CEP290):c.2167C>T (p.Arg723Trp) rs372963403 0.00002
NM_025114.4(CEP290):c.2273T>C (p.Val758Ala) rs369868981 0.00002
NM_025114.4(CEP290):c.3124A>G (p.Lys1042Glu) rs1468626083 0.00002
NM_025114.4(CEP290):c.3238T>G (p.Tyr1080Asp) rs750466529 0.00002
NM_025114.4(CEP290):c.3410G>A (p.Arg1137Gln) rs774900495 0.00002
NM_025114.4(CEP290):c.3428A>G (p.Lys1143Arg) rs772550529 0.00002
NM_025114.4(CEP290):c.4030-14A>G rs910563325 0.00002
NM_025114.4(CEP290):c.4156A>G (p.Ile1386Val) rs1427374639 0.00002
NM_025114.4(CEP290):c.4268G>A (p.Arg1423His) rs774025278 0.00002
NM_025114.4(CEP290):c.4292C>T (p.Ala1431Val) rs564214956 0.00002
NM_025114.4(CEP290):c.4391T>C (p.Ile1464Thr) rs761761702 0.00002
NM_025114.4(CEP290):c.4394G>A (p.Arg1465Gln) rs576877716 0.00002
NM_025114.4(CEP290):c.5027A>G (p.His1676Arg) rs375246057 0.00002
NM_025114.4(CEP290):c.5285G>A (p.Arg1762His) rs761763799 0.00002
NM_025114.4(CEP290):c.5371G>C (p.Val1791Leu) rs955877363 0.00002
NM_025114.4(CEP290):c.5413C>T (p.Leu1805Phe) rs1366280320 0.00002
NM_025114.4(CEP290):c.5431A>G (p.Arg1811Gly) rs1460898199 0.00002
NM_025114.4(CEP290):c.551A>G (p.Gln184Arg) rs374752439 0.00002
NM_025114.4(CEP290):c.563A>T (p.Asp188Val) rs746511786 0.00002
NM_025114.4(CEP290):c.6023C>T (p.Ala2008Val) rs376307540 0.00002
NM_025114.4(CEP290):c.6335G>A (p.Arg2112Gln) rs773459272 0.00002
NM_025114.4(CEP290):c.6571C>G (p.His2191Asp) rs769798212 0.00002
NM_025114.4(CEP290):c.7083G>T (p.Gln2361His) rs201801456 0.00002
NM_025114.4(CEP290):c.7169C>G (p.Thr2390Arg) rs776216960 0.00002
NM_025114.4(CEP290):c.739G>A (p.Val247Ile) rs1409885182 0.00002
NM_025114.4(CEP290):c.835G>A (p.Asp279Asn) rs796540607 0.00002
NM_030578.4(B9D2):c.484G>T (p.Gly162Cys) rs760322583 0.00002
NM_153704.6(TMEM67):c.169A>G (p.Ile57Val) rs1303516077 0.00002
NM_153704.6(TMEM67):c.1781A>G (p.Lys594Arg) rs142280651 0.00002
NM_153704.6(TMEM67):c.1928G>A (p.Arg643Gln) rs776677392 0.00002
NM_153704.6(TMEM67):c.2314A>G (p.Met772Val) rs777291564 0.00002
NM_153704.6(TMEM67):c.2740A>G (p.Met914Val) rs758944470 0.00002
NM_153704.6(TMEM67):c.42G>T (p.Trp14Cys) rs781254251 0.00002
NM_153704.6(TMEM67):c.5C>T (p.Ala2Val) rs770813739 0.00002
NM_153704.6(TMEM67):c.641A>G (p.Tyr214Cys) rs768183184 0.00002
NM_153704.6(TMEM67):c.64G>A (p.Val22Met) rs770779757 0.00002
NM_153704.6(TMEM67):c.722C>G (p.Ala241Gly) rs115766095 0.00002
NM_153704.6(TMEM67):c.799G>A (p.Ala267Thr) rs752179627 0.00002
NM_001082538.3(TCTN1):c.1034C>T (p.Ser345Leu) rs764428510 0.00001
NM_001082538.3(TCTN1):c.113C>G (p.Thr38Ser) rs1414721255 0.00001
NM_001082538.3(TCTN1):c.1150G>A (p.Val384Met) rs768050958 0.00001
NM_001082538.3(TCTN1):c.1217G>C (p.Arg406Thr) rs372139162 0.00001
NM_001082538.3(TCTN1):c.1309A>G (p.Met437Val) rs777277575 0.00001
NM_001082538.3(TCTN1):c.1349C>T (p.Pro450Leu) rs755076199 0.00001
NM_001082538.3(TCTN1):c.1441G>A (p.Asp481Asn) rs891438919 0.00001
NM_001082538.3(TCTN1):c.1522C>T (p.Leu508Phe) rs1016934113 0.00001
NM_001082538.3(TCTN1):c.1562A>T (p.Tyr521Phe) rs978264567 0.00001
NM_001082538.3(TCTN1):c.1627T>A (p.Phe543Ile) rs928189605 0.00001
NM_001082538.3(TCTN1):c.1636-3C>T rs1456445051 0.00001
NM_001082538.3(TCTN1):c.1646G>A (p.Gly549Glu) rs780673992 0.00001
NM_001082538.3(TCTN1):c.1663C>T (p.Leu555Phe) rs375896348 0.00001
NM_001082538.3(TCTN1):c.1679T>C (p.Val560Ala) rs765240282 0.00001
NM_001082538.3(TCTN1):c.169C>T (p.Pro57Ser) rs543518078 0.00001
NM_001082538.3(TCTN1):c.1773T>G (p.Phe591Leu) rs201198236 0.00001
NM_001082538.3(TCTN1):c.219C>G (p.Asp73Glu) rs748298895 0.00001
NM_001082538.3(TCTN1):c.232T>C (p.Cys78Arg) rs1565956183 0.00001
NM_001082538.3(TCTN1):c.233G>A (p.Cys78Tyr) rs760047850 0.00001
NM_001082538.3(TCTN1):c.286G>A (p.Asp96Asn) rs1048212721 0.00001
NM_001082538.3(TCTN1):c.341C>T (p.Thr114Met) rs768244592 0.00001
NM_001082538.3(TCTN1):c.346G>A (p.Asp116Asn) rs983420048 0.00001
NM_001082538.3(TCTN1):c.467C>T (p.Thr156Ile) rs369542737 0.00001
NM_001082538.3(TCTN1):c.666T>G (p.Phe222Leu) rs2066301569 0.00001
NM_001082538.3(TCTN1):c.671C>T (p.Ser224Leu) rs376544711 0.00001
NM_001082538.3(TCTN1):c.713C>T (p.Ala238Val) rs370816745 0.00001
NM_001082538.3(TCTN1):c.83C>T (p.Pro28Leu) rs1305265141 0.00001
NM_001082538.3(TCTN1):c.899G>A (p.Arg300Gln) rs746946452 0.00001
NM_001082538.3(TCTN1):c.902G>A (p.Arg301Gln) rs780877516 0.00001
NM_001082538.3(TCTN1):c.926C>T (p.Pro309Leu) rs1291603381 0.00001
NM_001082538.3(TCTN1):c.956T>G (p.Leu319Arg) rs762127242 0.00001
NM_001134831.2(AHI1):c.10+5G>A rs1222293284 0.00001
NM_001134831.2(AHI1):c.1156C>T (p.Arg386Trp) rs183862577 0.00001
NM_001134831.2(AHI1):c.1175A>G (p.Tyr392Cys) rs561883150 0.00001
NM_001134831.2(AHI1):c.1189G>A (p.Val397Met) rs1333376430 0.00001
NM_001134831.2(AHI1):c.1301T>C (p.Leu434Pro) rs771603649 0.00001
NM_001134831.2(AHI1):c.1306G>A (p.Gly436Ser) rs760470566 0.00001
NM_001134831.2(AHI1):c.1342G>A (p.Glu448Lys) rs777952691 0.00001
NM_001134831.2(AHI1):c.1346T>A (p.Ile449Asn) rs1406446272 0.00001
NM_001134831.2(AHI1):c.1414C>T (p.Arg472Trp) rs969178984 0.00001
NM_001134831.2(AHI1):c.145A>G (p.Ile49Val) rs533707253 0.00001
NM_001134831.2(AHI1):c.1468A>G (p.Ile490Val) rs1316545198 0.00001
NM_001134831.2(AHI1):c.1513C>T (p.Pro505Ser) rs1443719410 0.00001
NM_001134831.2(AHI1):c.158T>G (p.Leu53Arg) rs766231229 0.00001
NM_001134831.2(AHI1):c.1607G>A (p.Gly536Glu) rs1389750653 0.00001
NM_001134831.2(AHI1):c.1625G>C (p.Cys542Ser) rs768523364 0.00001
NM_001134831.2(AHI1):c.1693C>T (p.Arg565Cys) rs763970632 0.00001
NM_001134831.2(AHI1):c.1786C>T (p.Arg596Cys) rs375309864 0.00001
NM_001134831.2(AHI1):c.1787G>A (p.Arg596His) rs373384543 0.00001
NM_001134831.2(AHI1):c.1924C>T (p.Pro642Ser) rs1257057591 0.00001
NM_001134831.2(AHI1):c.1928C>T (p.Ser643Phe) rs761238509 0.00001
NM_001134831.2(AHI1):c.2011A>G (p.Thr671Ala) rs780154667 0.00001
NM_001134831.2(AHI1):c.2084C>T (p.Pro695Leu) rs1784911034 0.00001
NM_001134831.2(AHI1):c.2120C>G (p.Pro707Arg) rs932386191 0.00001
NM_001134831.2(AHI1):c.2125G>A (p.Val709Ile) rs752009063 0.00001
NM_001134831.2(AHI1):c.2129G>A (p.Arg710Lys) rs1352407748 0.00001
NM_001134831.2(AHI1):c.2237T>C (p.Phe746Ser) rs1403041060 0.00001
NM_001134831.2(AHI1):c.2266G>T (p.Gly756Cys) rs376754552 0.00001
NM_001134831.2(AHI1):c.2285G>A (p.Gly762Glu) rs1348260638 0.00001
NM_001134831.2(AHI1):c.2299G>T (p.Val767Leu) rs755688765 0.00001
NM_001134831.2(AHI1):c.2369A>G (p.Asn790Ser) rs1181424358 0.00001
NM_001134831.2(AHI1):c.2431A>G (p.Asn811Asp) rs1362092820 0.00001
NM_001134831.2(AHI1):c.2491A>T (p.Ile831Leu) rs746256168 0.00001
NM_001134831.2(AHI1):c.2492+3A>G rs951268770 0.00001
NM_001134831.2(AHI1):c.2504G>A (p.Arg835Lys) rs767879919 0.00001
NM_001134831.2(AHI1):c.2580T>A (p.Ala860=) rs1185759126 0.00001
NM_001134831.2(AHI1):c.2623+4A>G rs766458098 0.00001
NM_001134831.2(AHI1):c.2638A>G (p.Met880Val) rs759069413 0.00001
NM_001134831.2(AHI1):c.266A>G (p.Asn89Ser) rs1374914353 0.00001
NM_001134831.2(AHI1):c.2671C>G (p.Arg891Gly) rs1355690902 0.00001
NM_001134831.2(AHI1):c.2795G>A (p.Arg932His) rs1301526139 0.00001
NM_001134831.2(AHI1):c.281C>T (p.Thr94Met) rs373490556 0.00001
NM_001134831.2(AHI1):c.2837A>G (p.Gln946Arg) rs1183310371 0.00001
NM_001134831.2(AHI1):c.2846T>C (p.Leu949Pro) rs756470790 0.00001
NM_001134831.2(AHI1):c.2879C>A (p.Ser960Tyr) rs764830616 0.00001
NM_001134831.2(AHI1):c.2905A>T (p.Thr969Ser) rs1012024407 0.00001
NM_001134831.2(AHI1):c.2906C>G (p.Thr969Ser) rs760411761 0.00001
NM_001134831.2(AHI1):c.2961+5G>A rs1304755953 0.00001
NM_001134831.2(AHI1):c.3076G>A (p.Glu1026Lys) rs1054804025 0.00001
NM_001134831.2(AHI1):c.3157G>A (p.Ala1053Thr) rs1261277645 0.00001
NM_001134831.2(AHI1):c.3165+5G>C rs768634892 0.00001
NM_001134831.2(AHI1):c.3173C>T (p.Ala1058Val) rs751040653 0.00001
NM_001134831.2(AHI1):c.3197G>A (p.Arg1066Gln) rs544992761 0.00001
NM_001134831.2(AHI1):c.3271G>A (p.Gly1091Ser) rs750829579 0.00001
NM_001134831.2(AHI1):c.3278T>C (p.Ile1093Thr) rs749649946 0.00001
NM_001134831.2(AHI1):c.3296G>T (p.Gly1099Val) rs1207608724 0.00001
NM_001134831.2(AHI1):c.331C>T (p.Pro111Ser) rs776053386 0.00001
NM_001134831.2(AHI1):c.3401T>C (p.Ile1134Thr) rs1279871862 0.00001
NM_001134831.2(AHI1):c.3426+6T>A rs1267329906 0.00001
NM_001134831.2(AHI1):c.3433A>G (p.Ile1145Val) rs766168872 0.00001
NM_001134831.2(AHI1):c.3480G>A (p.Met1160Ile) rs952789093 0.00001
NM_001134831.2(AHI1):c.3485+6C>T rs748866983 0.00001
NM_001134831.2(AHI1):c.3491A>C (p.Glu1164Ala) rs1232167375 0.00001
NM_001134831.2(AHI1):c.3541C>T (p.Arg1181Trp) rs753932826 0.00001
NM_001134831.2(AHI1):c.3583A>G (p.Ile1195Val) rs776098993 0.00001
NM_001134831.2(AHI1):c.3589-3C>T rs781417999 0.00001
NM_001134831.2(AHI1):c.362A>G (p.Lys121Arg) rs140836078 0.00001
NM_001134831.2(AHI1):c.379A>G (p.Lys127Glu) rs912049113 0.00001
NM_001134831.2(AHI1):c.485A>C (p.Gln162Pro) rs770822998 0.00001
NM_001134831.2(AHI1):c.532G>A (p.Glu178Lys) rs1245690441 0.00001
NM_001134831.2(AHI1):c.53A>G (p.Glu18Gly) rs776505818 0.00001
NM_001134831.2(AHI1):c.553G>T (p.Asp185Tyr) rs1032930574 0.00001
NM_001134831.2(AHI1):c.612T>G (p.Ile204Met) rs781286716 0.00001
NM_001134831.2(AHI1):c.824A>G (p.Asp275Gly) rs778231180 0.00001
NM_001134831.2(AHI1):c.848G>A (p.Ser283Asn) rs749890939 0.00001
NM_001134831.2(AHI1):c.878T>C (p.Met293Thr) rs759553258 0.00001
NM_001134831.2(AHI1):c.964G>A (p.Gly322Ser) rs1382955866 0.00001
NM_001173990.3(TMEM216):c.11G>A (p.Arg4Gln) rs548299486 0.00001
NM_001173990.3(TMEM216):c.14G>T (p.Gly5Val) rs373854580 0.00001
NM_001173990.3(TMEM216):c.1A>G (p.Met1Val) rs1287246452 0.00001
NM_001173990.3(TMEM216):c.228T>C (p.Phe76=) rs1383356739 0.00001
NM_001173990.3(TMEM216):c.257A>G (p.Lys86Arg) rs1414360114 0.00001
NM_001173990.3(TMEM216):c.2T>A (p.Met1Lys) rs1554972406 0.00001
NM_001173990.3(TMEM216):c.343C>T (p.Arg115Cys) rs774225426 0.00001
NM_001173990.3(TMEM216):c.359T>C (p.Met120Thr) rs367737418 0.00001
NM_001173990.3(TMEM216):c.380T>G (p.Phe127Cys) rs756738481 0.00001
NM_001173990.3(TMEM216):c.406G>A (p.Val136Met) rs75668329 0.00001
NM_001173990.3(TMEM216):c.40C>T (p.Arg14Trp) rs528271337 0.00001
NM_001378615.1(CC2D2A):c.1019A>C (p.Glu340Ala) rs1450279703 0.00001
NM_001378615.1(CC2D2A):c.1027T>C (p.Trp343Arg) rs1222588033 0.00001
NM_001378615.1(CC2D2A):c.1179T>G (p.His393Gln) rs368203865 0.00001
NM_001378615.1(CC2D2A):c.1197C>A (p.Asp399Glu) rs1019784141 0.00001
NM_001378615.1(CC2D2A):c.1222A>G (p.Ile408Val) rs1196012902 0.00001
NM_001378615.1(CC2D2A):c.1409C>G (p.Pro470Arg) rs370978967 0.00001
NM_001378615.1(CC2D2A):c.1483C>T (p.Arg495Cys) rs754391657 0.00001
NM_001378615.1(CC2D2A):c.149T>C (p.Met50Thr) rs765810643 0.00001
NM_001378615.1(CC2D2A):c.1501A>G (p.Lys501Glu) rs759556765 0.00001
NM_001378615.1(CC2D2A):c.1672G>A (p.Glu558Lys) rs766924214 0.00001
NM_001378615.1(CC2D2A):c.1780A>G (p.Lys594Glu) rs764556903 0.00001
NM_001378615.1(CC2D2A):c.1799A>C (p.Glu600Ala) rs779393473 0.00001
NM_001378615.1(CC2D2A):c.1810G>A (p.Gly604Ser) rs747935651 0.00001
NM_001378615.1(CC2D2A):c.1855C>T (p.Pro619Ser) rs1427654469 0.00001
NM_001378615.1(CC2D2A):c.1871C>T (p.Pro624Leu) rs947493633 0.00001
NM_001378615.1(CC2D2A):c.1880G>A (p.Arg627Gln) rs752576142 0.00001
NM_001378615.1(CC2D2A):c.1882G>A (p.Ala628Thr) rs1229418241 0.00001
NM_001378615.1(CC2D2A):c.1948C>G (p.Leu650Val) rs1382964089 0.00001
NM_001378615.1(CC2D2A):c.1952T>A (p.Val651Asp) rs762298895 0.00001
NM_001378615.1(CC2D2A):c.1955C>T (p.Pro652Leu) rs759126033 0.00001
NM_001378615.1(CC2D2A):c.2015C>T (p.Ser672Leu) rs529497661 0.00001
NM_001378615.1(CC2D2A):c.2041T>A (p.Ser681Thr) rs769428879 0.00001
NM_001378615.1(CC2D2A):c.2053A>G (p.Lys685Glu) rs879877075 0.00001
NM_001378615.1(CC2D2A):c.2077G>A (p.Val693Met) rs1402828879 0.00001
NM_001378615.1(CC2D2A):c.2095C>T (p.Arg699Trp) rs754058720 0.00001
NM_001378615.1(CC2D2A):c.2133G>C (p.Gln711His) rs886059139 0.00001
NM_001378615.1(CC2D2A):c.2162C>T (p.Pro721Leu) rs533830027 0.00001
NM_001378615.1(CC2D2A):c.2181+3A>G rs1718406239 0.00001
NM_001378615.1(CC2D2A):c.2182G>T (p.Val728Phe) rs752814776 0.00001
NM_001378615.1(CC2D2A):c.2206A>T (p.Ser736Cys) rs1308459948 0.00001
NM_001378615.1(CC2D2A):c.2251A>G (p.Thr751Ala) rs942868342 0.00001
NM_001378615.1(CC2D2A):c.2288A>C (p.Glu763Ala) rs759466798 0.00001
NM_001378615.1(CC2D2A):c.233G>A (p.Arg78Gln) rs762718210 0.00001
NM_001378615.1(CC2D2A):c.2399A>G (p.Lys800Arg) rs1287026947 0.00001
NM_001378615.1(CC2D2A):c.2404T>C (p.Ser802Pro) rs1194338259 0.00001
NM_001378615.1(CC2D2A):c.2417C>T (p.Ala806Val) rs769808709 0.00001
NM_001378615.1(CC2D2A):c.2534T>C (p.Leu845Pro) rs1481526699 0.00001
NM_001378615.1(CC2D2A):c.2605C>A (p.Pro869Thr) rs772863864 0.00001
NM_001378615.1(CC2D2A):c.2715A>C (p.Leu905Phe) rs1394929452 0.00001
NM_001378615.1(CC2D2A):c.275G>A (p.Arg92Lys) rs1342506197 0.00001
NM_001378615.1(CC2D2A):c.2780A>C (p.Tyr927Ser) rs915290953 0.00001
NM_001378615.1(CC2D2A):c.280G>C (p.Gly94Arg) rs1435144536 0.00001
NM_001378615.1(CC2D2A):c.2891A>G (p.His964Arg) rs1273769297 0.00001
NM_001378615.1(CC2D2A):c.2902G>A (p.Val968Ile) rs1369320518 0.00001
NM_001378615.1(CC2D2A):c.2918A>T (p.Gln973Leu) rs1321218611 0.00001
NM_001378615.1(CC2D2A):c.3008A>G (p.Asn1003Ser) rs376663620 0.00001
NM_001378615.1(CC2D2A):c.305G>A (p.Gly102Glu) rs373765548 0.00001
NM_001378615.1(CC2D2A):c.3076A>G (p.Lys1026Glu) rs759702917 0.00001
NM_001378615.1(CC2D2A):c.307C>T (p.Arg103Cys) rs367699902 0.00001
NM_001378615.1(CC2D2A):c.3115G>A (p.Gly1039Arg) rs1358156436 0.00001
NM_001378615.1(CC2D2A):c.3146G>A (p.Arg1049Gln) rs1192970855 0.00001
NM_001378615.1(CC2D2A):c.3154G>A (p.Asp1052Asn) rs1055487228 0.00001
NM_001378615.1(CC2D2A):c.3200C>T (p.Ser1067Leu) rs886059181 0.00001
NM_001378615.1(CC2D2A):c.3263A>C (p.His1088Pro) rs1295889715 0.00001
NM_001378615.1(CC2D2A):c.3401C>T (p.Ala1134Val) rs375903728 0.00001
NM_001378615.1(CC2D2A):c.3424G>C (p.Ala1142Pro) rs1277091809 0.00001
NM_001378615.1(CC2D2A):c.3458T>C (p.Ile1153Thr) rs1410133502 0.00001
NM_001378615.1(CC2D2A):c.3495G>A (p.Glu1165=) rs374241960 0.00001
NM_001378615.1(CC2D2A):c.3529C>T (p.Arg1177Cys) rs371561652 0.00001
NM_001378615.1(CC2D2A):c.3533T>C (p.Ile1178Thr) rs376674451 0.00001
NM_001378615.1(CC2D2A):c.3580T>C (p.Tyr1194His) rs756905415 0.00001
NM_001378615.1(CC2D2A):c.3594+5G>A rs863225181 0.00001
NM_001378615.1(CC2D2A):c.3610A>C (p.Lys1204Gln) rs1409153766 0.00001
NM_001378615.1(CC2D2A):c.3671G>A (p.Arg1224Gln) rs892274416 0.00001
NM_001378615.1(CC2D2A):c.3712A>G (p.Ile1238Val) rs964134322 0.00001
NM_001378615.1(CC2D2A):c.383C>T (p.Pro128Leu) rs768439693 0.00001
NM_001378615.1(CC2D2A):c.4048C>T (p.Leu1350Phe) rs780313255 0.00001
NM_001378615.1(CC2D2A):c.4055G>A (p.Ser1352Asn) rs749491270 0.00001
NM_001378615.1(CC2D2A):c.4178A>C (p.Glu1393Ala) rs1258451179 0.00001
NM_001378615.1(CC2D2A):c.4180-5T>C rs766234817 0.00001
NM_001378615.1(CC2D2A):c.4209G>T (p.Glu1403Asp) rs751624828 0.00001
NM_001378615.1(CC2D2A):c.4217G>A (p.Arg1406His) rs369001837 0.00001
NM_001378615.1(CC2D2A):c.4396T>G (p.Phe1466Val) rs1170583979 0.00001
NM_001378615.1(CC2D2A):c.4400C>T (p.Ser1467Leu) rs1041487733 0.00001
NM_001378615.1(CC2D2A):c.4526T>C (p.Met1509Thr) rs760863691 0.00001
NM_001378615.1(CC2D2A):c.4600T>G (p.Leu1534Val) rs778858648 0.00001
NM_001378615.1(CC2D2A):c.4640G>A (p.Arg1547Lys) rs760048536 0.00001
NM_001378615.1(CC2D2A):c.4674+3A>T rs754534791 0.00001
NM_001378615.1(CC2D2A):c.4675-1G>C rs764806176 0.00001
NM_001378615.1(CC2D2A):c.4697T>C (p.Met1566Thr) rs762773515 0.00001
NM_001378615.1(CC2D2A):c.4747G>A (p.Val1583Ile) rs371196379 0.00001
NM_001378615.1(CC2D2A):c.4759G>T (p.Asp1587Tyr) rs1378734767 0.00001
NM_001378615.1(CC2D2A):c.55G>C (p.Asp19His) rs755345164 0.00001
NM_001378615.1(CC2D2A):c.579C>G (p.Asn193Lys) rs761117385 0.00001
NM_001378615.1(CC2D2A):c.590T>C (p.Phe197Ser) rs200761243 0.00001
NM_001378615.1(CC2D2A):c.634G>C (p.Ala212Pro) rs965986708 0.00001
NM_001378615.1(CC2D2A):c.695C>A (p.Ala232Glu) rs779245267 0.00001
NM_001378615.1(CC2D2A):c.779T>C (p.Val260Ala) rs1440700780 0.00001
NM_001378615.1(CC2D2A):c.787G>A (p.Asp263Asn) rs747042723 0.00001
NM_001378615.1(CC2D2A):c.7C>A (p.Pro3Thr) rs745734694 0.00001
NM_001378615.1(CC2D2A):c.832C>T (p.Arg278Trp) rs372873919 0.00001
NM_001378615.1(CC2D2A):c.833G>A (p.Arg278Gln) rs775794635 0.00001
NM_001378615.1(CC2D2A):c.857T>C (p.Leu286Pro) rs776020343 0.00001
NM_001378615.1(CC2D2A):c.958C>T (p.Pro320Ser) rs374098727 0.00001
NM_001378615.1(CC2D2A):c.964G>A (p.Val322Met) rs1010349592 0.00001
NM_001378615.1(CC2D2A):c.977A>G (p.Asn326Ser) rs1425158863 0.00001
NM_001378615.1(CC2D2A):c.97G>A (p.Val33Ile) rs745409806 0.00001
NM_003611.3(OFD1):c.1030C>T (p.Arg344Ter) rs758903488 0.00001
NM_003611.3(OFD1):c.1081T>C (p.Tyr361His) rs991181381 0.00001
NM_003611.3(OFD1):c.1100G>A (p.Arg367Gln) rs312262864 0.00001
NM_003611.3(OFD1):c.1111G>A (p.Asp371Asn) rs373202088 0.00001
NM_003611.3(OFD1):c.1205G>A (p.Arg402His) rs1283023888 0.00001
NM_003611.3(OFD1):c.1278G>A (p.Met426Ile) rs756825275 0.00001
NM_003611.3(OFD1):c.1300A>T (p.Met434Leu) rs1191893961 0.00001
NM_003611.3(OFD1):c.1427C>T (p.Ala476Val) rs1189655158 0.00001
NM_003611.3(OFD1):c.1468G>A (p.Glu490Lys) rs1454731121 0.00001
NM_003611.3(OFD1):c.149A>G (p.His50Arg) rs863225213 0.00001
NM_003611.3(OFD1):c.1543-3C>T rs1427426943 0.00001
NM_003611.3(OFD1):c.1699G>A (p.Asp567Asn) rs760663674 0.00001
NM_003611.3(OFD1):c.1960C>T (p.Arg654Trp) rs779709673 0.00001
NM_003611.3(OFD1):c.2140G>A (p.Val714Met) rs797045845 0.00001
NM_003611.3(OFD1):c.2188T>A (p.Ser730Thr) rs780934031 0.00001
NM_003611.3(OFD1):c.223A>G (p.Asn75Asp) rs760347311 0.00001
NM_003611.3(OFD1):c.2388-3T>C rs1301197444 0.00001
NM_003611.3(OFD1):c.2467G>A (p.Glu823Lys) rs1282756613 0.00001
NM_003611.3(OFD1):c.2514G>C (p.Leu838Phe) rs1443995525 0.00001
NM_003611.3(OFD1):c.2525G>C (p.Gly842Ala) rs201180146 0.00001
NM_003611.3(OFD1):c.2539G>A (p.Gly847Arg) rs1178559792 0.00001
NM_003611.3(OFD1):c.2598A>C (p.Pro866=) rs2048026816 0.00001
NM_003611.3(OFD1):c.2987A>G (p.Lys996Arg) rs777790587 0.00001
NM_003611.3(OFD1):c.3021A>T (p.Glu1007Asp) rs1235702491 0.00001
NM_003611.3(OFD1):c.313G>A (p.Val105Ile) rs772018123 0.00001
NM_003611.3(OFD1):c.53A>C (p.Glu18Ala) rs1185798273 0.00001
NM_003611.3(OFD1):c.676G>A (p.Glu226Lys) rs1273056528 0.00001
NM_003611.3(OFD1):c.74A>G (p.Gln25Arg) rs1158126675 0.00001
NM_003611.3(OFD1):c.797G>C (p.Ser266Thr) rs1354561362 0.00001
NM_003611.3(OFD1):c.935+4A>G rs1243725011 0.00001
NM_003611.3(OFD1):c.967A>G (p.Ser323Gly) rs764424025 0.00001
NM_003611.3(OFD1):c.972A>G (p.Ile324Met) rs2047490451 0.00001
NM_015272.5(RPGRIP1L):c.1000A>G (p.Met334Val) rs1182455258 0.00001
NM_015272.5(RPGRIP1L):c.1010C>T (p.Ser337Phe) rs747867189 0.00001
NM_015272.5(RPGRIP1L):c.101G>A (p.Arg34Gln) rs761513762 0.00001
NM_015272.5(RPGRIP1L):c.1064G>A (p.Arg355Gln) rs758759988 0.00001
NM_015272.5(RPGRIP1L):c.106A>G (p.Met36Val) rs867836079 0.00001
NM_015272.5(RPGRIP1L):c.1103+5A>G rs773167560 0.00001
NM_015272.5(RPGRIP1L):c.1150C>G (p.Gln384Glu) rs1968112121 0.00001
NM_015272.5(RPGRIP1L):c.116G>A (p.Arg39His) rs886042345 0.00001
NM_015272.5(RPGRIP1L):c.1190A>C (p.Lys397Thr) rs571212511 0.00001
NM_015272.5(RPGRIP1L):c.122C>T (p.Ala41Val) rs1365531088 0.00001
NM_015272.5(RPGRIP1L):c.1257A>T (p.Lys419Asn) rs976533506 0.00001
NM_015272.5(RPGRIP1L):c.1289A>T (p.Gln430Leu) rs770032567 0.00001
NM_015272.5(RPGRIP1L):c.1329A>C (p.Lys443Asn) rs777834264 0.00001
NM_015272.5(RPGRIP1L):c.1330C>T (p.Arg444Cys) rs1296403401 0.00001
NM_015272.5(RPGRIP1L):c.1376T>G (p.Leu459Trp) rs1430832205 0.00001
NM_015272.5(RPGRIP1L):c.144G>C (p.Glu48Asp) rs377512064 0.00001
NM_015272.5(RPGRIP1L):c.1483A>G (p.Met495Val) rs781046784 0.00001
NM_015272.5(RPGRIP1L):c.1574A>G (p.Asp525Gly) rs371841392 0.00001
NM_015272.5(RPGRIP1L):c.1610T>C (p.Met537Thr) rs752785301 0.00001
NM_015272.5(RPGRIP1L):c.1636C>T (p.Leu546Phe) rs147331527 0.00001
NM_015272.5(RPGRIP1L):c.1657C>A (p.His553Asn) rs145516192 0.00001
NM_015272.5(RPGRIP1L):c.166C>T (p.Arg56Cys) rs755258407 0.00001
NM_015272.5(RPGRIP1L):c.1681C>T (p.Arg561Cys) rs781713688 0.00001
NM_015272.5(RPGRIP1L):c.1700C>T (p.Ala567Val) rs553739434 0.00001
NM_015272.5(RPGRIP1L):c.1748C>G (p.Pro583Arg) rs548348340 0.00001
NM_015272.5(RPGRIP1L):c.1785T>A (p.Asp595Glu) rs775017742 0.00001
NM_015272.5(RPGRIP1L):c.1809C>T (p.Gly603=) rs375766769 0.00001
NM_015272.5(RPGRIP1L):c.1840G>C (p.Val614Leu) rs750811808 0.00001
NM_015272.5(RPGRIP1L):c.1867G>C (p.Ala623Pro) rs776297522 0.00001
NM_015272.5(RPGRIP1L):c.1895T>G (p.Phe632Cys) rs1381232476 0.00001
NM_015272.5(RPGRIP1L):c.1936C>T (p.Pro646Ser) rs1442222835 0.00001
NM_015272.5(RPGRIP1L):c.1962A>T (p.Glu654Asp) rs201737322 0.00001
NM_015272.5(RPGRIP1L):c.1990C>G (p.His664Asp) rs763167296 0.00001
NM_015272.5(RPGRIP1L):c.205C>T (p.Arg69Cys) rs775007896 0.00001
NM_015272.5(RPGRIP1L):c.2078T>C (p.Ile693Thr) rs766197081 0.00001
NM_015272.5(RPGRIP1L):c.2096A>G (p.Lys699Arg) rs764289143 0.00001
NM_015272.5(RPGRIP1L):c.2120G>T (p.Ser707Ile) rs151281974 0.00001
NM_015272.5(RPGRIP1L):c.2201G>A (p.Arg734Gln) rs117364872 0.00001
NM_015272.5(RPGRIP1L):c.2301G>T (p.Gln767His) rs1338012833 0.00001
NM_015272.5(RPGRIP1L):c.2327C>T (p.Thr776Ile) rs771545136 0.00001
NM_015272.5(RPGRIP1L):c.235G>A (p.Ala79Thr) rs763182141 0.00001
NM_015272.5(RPGRIP1L):c.2474A>G (p.His825Arg) rs752772082 0.00001
NM_015272.5(RPGRIP1L):c.2476G>A (p.Asp826Asn) rs746015353 0.00001
NM_015272.5(RPGRIP1L):c.2519A>G (p.Asp840Gly) rs949487941 0.00001
NM_015272.5(RPGRIP1L):c.2571G>C (p.Lys857Asn) rs149833407 0.00001
NM_015272.5(RPGRIP1L):c.2579C>G (p.Ser860Cys) rs768030202 0.00001
NM_015272.5(RPGRIP1L):c.2590T>C (p.Tyr864His) rs1480250597 0.00001
NM_015272.5(RPGRIP1L):c.2666A>G (p.His889Arg) rs1228542037 0.00001
NM_015272.5(RPGRIP1L):c.2672G>A (p.Arg891Lys) rs200531735 0.00001
NM_015272.5(RPGRIP1L):c.2723G>A (p.Gly908Asp) rs1478290807 0.00001
NM_015272.5(RPGRIP1L):c.2789A>C (p.Glu930Ala) rs374694596 0.00001
NM_015272.5(RPGRIP1L):c.2878C>T (p.Pro960Ser) rs1187280209 0.00001
NM_015272.5(RPGRIP1L):c.3089T>C (p.Val1030Ala) rs1965937862 0.00001
NM_015272.5(RPGRIP1L):c.3101C>T (p.Thr1034Ile) rs780672507 0.00001
NM_015272.5(RPGRIP1L):c.316G>A (p.Val106Met) rs1970438037 0.00001
NM_015272.5(RPGRIP1L):c.3255C>A (p.Asp1085Glu) rs1965840419 0.00001
NM_015272.5(RPGRIP1L):c.3263T>G (p.Ile1088Ser) rs1185071339 0.00001
NM_015272.5(RPGRIP1L):c.3271C>A (p.Pro1091Thr) rs1436900505 0.00001
NM_015272.5(RPGRIP1L):c.3301G>A (p.Ala1101Thr) rs539084201 0.00001
NM_015272.5(RPGRIP1L):c.3356G>A (p.Arg1119His) rs1207253947 0.00001
NM_015272.5(RPGRIP1L):c.3432+6T>G rs543688285 0.00001
NM_015272.5(RPGRIP1L):c.3451A>C (p.Ile1151Leu) rs886038619 0.00001
NM_015272.5(RPGRIP1L):c.3475A>G (p.Asn1159Asp) rs774549370 0.00001
NM_015272.5(RPGRIP1L):c.3491C>T (p.Thr1164Ile) rs745796721 0.00001
NM_015272.5(RPGRIP1L):c.3499G>A (p.Asp1167Asn) rs746806282 0.00001
NM_015272.5(RPGRIP1L):c.3530G>A (p.Arg1177Gln) rs754491479 0.00001
NM_015272.5(RPGRIP1L):c.3541C>A (p.Leu1181Ile) rs905516252 0.00001
NM_015272.5(RPGRIP1L):c.3545C>T (p.Pro1182Leu) rs1446510817 0.00001
NM_015272.5(RPGRIP1L):c.3611G>A (p.Ser1204Asn) rs746750855 0.00001
NM_015272.5(RPGRIP1L):c.3617-3T>C rs1964004072 0.00001
NM_015272.5(RPGRIP1L):c.3670A>G (p.Ile1224Val) rs778319575 0.00001
NM_015272.5(RPGRIP1L):c.3701+3A>G rs188594966 0.00001
NM_015272.5(RPGRIP1L):c.3701+4T>C rs767564258 0.00001
NM_015272.5(RPGRIP1L):c.3764T>C (p.Ile1255Thr) rs749664648 0.00001
NM_015272.5(RPGRIP1L):c.3778G>A (p.Val1260Ile) rs781401167 0.00001
NM_015272.5(RPGRIP1L):c.3818T>C (p.Ile1273Thr) rs764832127 0.00001
NM_015272.5(RPGRIP1L):c.3819T>G (p.Ile1273Met) rs1244061656 0.00001
NM_015272.5(RPGRIP1L):c.386T>A (p.Leu129His) rs927281262 0.00001
NM_015272.5(RPGRIP1L):c.446C>T (p.Pro149Leu) rs1406955571 0.00001
NM_015272.5(RPGRIP1L):c.611C>A (p.Ala204Asp) rs769611947 0.00001
NM_015272.5(RPGRIP1L):c.643A>G (p.Ile215Val) rs930198445 0.00001
NM_015272.5(RPGRIP1L):c.728T>C (p.Ile243Thr) rs766117001 0.00001
NM_015272.5(RPGRIP1L):c.747G>C (p.Gln249His) rs1970020650 0.00001
NM_015681.6(B9D1):c.143A>G (p.Glu48Gly) rs773267624 0.00001
NM_015681.6(B9D1):c.241G>A (p.Gly81Ser) rs766798349 0.00001
NM_015681.6(B9D1):c.253A>T (p.Ile85Phe) rs769608300 0.00001
NM_015681.6(B9D1):c.281T>C (p.Val94Ala) rs1315959511 0.00001
NM_015681.6(B9D1):c.28C>G (p.Leu10Val) rs1046425051 0.00001
NM_015681.6(B9D1):c.316G>A (p.Val106Met) rs770853834 0.00001
NM_015681.6(B9D1):c.362T>C (p.Met121Thr) rs1177935761 0.00001
NM_015681.6(B9D1):c.404+5G>C rs767244331 0.00001
NM_015681.6(B9D1):c.434C>T (p.Thr145Ile) rs765607415 0.00001
NM_015681.6(B9D1):c.534G>A (p.Met178Ile) rs939940954 0.00001
NM_015681.6(B9D1):c.551A>T (p.Asp184Val) rs1441010335 0.00001
NM_015681.6(B9D1):c.577G>A (p.Val193Met) rs530321513 0.00001
NM_017777.4(MKS1):c.101C>T (p.Thr34Ile) rs759465861 0.00001
NM_017777.4(MKS1):c.1055C>T (p.Ser352Leu) rs1293609717 0.00001
NM_017777.4(MKS1):c.1090G>C (p.Ala364Pro) rs769389013 0.00001
NM_017777.4(MKS1):c.1127C>T (p.Thr376Met) rs200350173 0.00001
NM_017777.4(MKS1):c.1205T>C (p.Leu402Pro) rs1295464168 0.00001
NM_017777.4(MKS1):c.1219T>C (p.Trp407Arg) rs1468389010 0.00001
NM_017777.4(MKS1):c.1279C>T (p.His427Tyr) rs141741656 0.00001
NM_017777.4(MKS1):c.1325T>G (p.Val442Gly) rs754930606 0.00001
NM_017777.4(MKS1):c.1424G>A (p.Arg475His) rs200026560 0.00001
NM_017777.4(MKS1):c.1466G>A (p.Arg489His) rs916562674 0.00001
NM_017777.4(MKS1):c.1497del (p.Phe499fs) rs780161503 0.00001
NM_017777.4(MKS1):c.1525A>G (p.Met509Val) rs778890248 0.00001
NM_017777.4(MKS1):c.1529G>A (p.Arg510Gln) rs373843986 0.00001
NM_017777.4(MKS1):c.1589-3C>T rs752901746 0.00001
NM_017777.4(MKS1):c.1590G>T (p.Glu530Asp) rs767250536 0.00001
NM_017777.4(MKS1):c.1627C>T (p.Arg543Trp) rs748406509 0.00001
NM_017777.4(MKS1):c.1657C>T (p.Pro553Ser) rs915370426 0.00001
NM_017777.4(MKS1):c.200G>A (p.Arg67His) rs780293222 0.00001
NM_017777.4(MKS1):c.227T>C (p.Ile76Thr) rs1412560835 0.00001
NM_017777.4(MKS1):c.268G>A (p.Val90Ile) rs1235520151 0.00001
NM_017777.4(MKS1):c.308T>C (p.Leu103Ser) rs201574278 0.00001
NM_017777.4(MKS1):c.313T>C (p.Tyr105His) rs778921113 0.00001
NM_017777.4(MKS1):c.331A>C (p.Ile111Leu) rs886044605 0.00001
NM_017777.4(MKS1):c.371G>A (p.Arg124Gln) rs765026950 0.00001
NM_017777.4(MKS1):c.399A>G (p.Arg133=) rs746378310 0.00001
NM_017777.4(MKS1):c.440C>T (p.Ala147Val) rs1376838481 0.00001
NM_017777.4(MKS1):c.447C>T (p.Ser149=) rs750376903 0.00001
NM_017777.4(MKS1):c.452T>C (p.Val151Ala) rs778584579 0.00001
NM_017777.4(MKS1):c.46C>T (p.Arg16Cys) rs1011348762 0.00001
NM_017777.4(MKS1):c.470A>G (p.Glu157Gly) rs766648988 0.00001
NM_017777.4(MKS1):c.497G>A (p.Arg166Gln) rs1050543850 0.00001
NM_017777.4(MKS1):c.509G>A (p.Arg170Gln) rs369388608 0.00001
NM_017777.4(MKS1):c.523G>A (p.Gly175Ser) rs754601373 0.00001
NM_017777.4(MKS1):c.524G>T (p.Gly175Val) rs527350238 0.00001
NM_017777.4(MKS1):c.548C>G (p.Thr183Ser) rs775805558 0.00001
NM_017777.4(MKS1):c.580A>G (p.Asn194Asp) rs759802849 0.00001
NM_017777.4(MKS1):c.586G>A (p.Val196Ile) rs140677541 0.00001
NM_017777.4(MKS1):c.634C>A (p.Pro212Thr) rs747659750 0.00001
NM_017777.4(MKS1):c.638A>G (p.Tyr213Cys) rs754689401 0.00001
NM_017777.4(MKS1):c.64C>A (p.Arg22Ser) rs1031187314 0.00001
NM_017777.4(MKS1):c.713T>G (p.Val238Gly) rs376785849 0.00001
NM_017777.4(MKS1):c.728C>T (p.Thr243Met) rs749668169 0.00001
NM_017777.4(MKS1):c.791C>T (p.Thr264Met) rs561482424 0.00001
NM_017777.4(MKS1):c.836G>A (p.Arg279Gln) rs747504986 0.00001
NM_017777.4(MKS1):c.840A>C (p.Glu280Asp) rs1406421081 0.00001
NM_017777.4(MKS1):c.854A>G (p.Lys285Arg) rs1350256761 0.00001
NM_017777.4(MKS1):c.873C>G (p.His291Gln) rs1968929550 0.00001
NM_017777.4(MKS1):c.896T>C (p.Val299Ala) rs765793774 0.00001
NM_017777.4(MKS1):c.957C>T (p.Val319=) rs770067106 0.00001
NM_019892.6(INPP5E):c.1028C>A (p.Ser343Tyr) rs1442522957 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.1105G>A (p.Gly369Ser) rs750574856 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.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.1453G>A (p.Gly485Arg) rs768384414 0.00001
NM_019892.6(INPP5E):c.163C>G (p.Pro55Ala) rs1302116437 0.00001
NM_019892.6(INPP5E):c.1665G>A (p.Thr555=) rs774331779 0.00001
NM_019892.6(INPP5E):c.1669C>T (p.Arg557Cys) rs1024279229 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.1787G>C (p.Arg596Thr) rs765327224 0.00001
NM_019892.6(INPP5E):c.1808C>T (p.Pro603Leu) rs746372090 0.00001
NM_019892.6(INPP5E):c.1919T>C (p.Ile640Thr) rs753001340 0.00001
NM_019892.6(INPP5E):c.197G>A (p.Arg66Gln) rs778236228 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.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.341G>A (p.Gly114Asp) rs1295096267 0.00001
NM_019892.6(INPP5E):c.35A>G (p.Glu12Gly) rs1029781765 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.739G>T (p.Asp247Tyr) rs749897420 0.00001
NM_019892.6(INPP5E):c.860C>T (p.Ala287Val) rs752406011 0.00001
NM_019892.6(INPP5E):c.892A>T (p.Asn298Tyr) rs1835793809 0.00001
NM_019892.6(INPP5E):c.964C>A (p.Leu322Met) rs1451261136 0.00001
NM_024809.5(TCTN2):c.1060G>A (p.Glu354Lys) rs953263200 0.00001
NM_024809.5(TCTN2):c.113G>A (p.Gly38Asp) rs765101825 0.00001
NM_024809.5(TCTN2):c.1180A>T (p.Ile394Phe) rs774166162 0.00001
NM_024809.5(TCTN2):c.1321C>T (p.Leu441Phe) rs752861868 0.00001
NM_024809.5(TCTN2):c.1370C>T (p.Thr457Met) rs202078439 0.00001
NM_024809.5(TCTN2):c.1430C>T (p.Pro477Leu) rs749989620 0.00001
NM_024809.5(TCTN2):c.1462T>A (p.Cys488Ser) rs765771036 0.00001
NM_024809.5(TCTN2):c.1477G>A (p.Gly493Arg) rs375717971 0.00001
NM_024809.5(TCTN2):c.1651A>G (p.Ser551Gly) rs774515451 0.00001
NM_024809.5(TCTN2):c.1663G>A (p.Gly555Ser) rs776273224 0.00001
NM_024809.5(TCTN2):c.1700G>A (p.Arg567His) rs780065531 0.00001
NM_024809.5(TCTN2):c.17C>T (p.Pro6Leu) rs1362649464 0.00001
NM_024809.5(TCTN2):c.1829T>C (p.Leu610Pro) rs554338311 0.00001
NM_024809.5(TCTN2):c.1849G>A (p.Val617Ile) rs376095561 0.00001
NM_024809.5(TCTN2):c.184G>C (p.Glu62Gln) rs774994149 0.00001
NM_024809.5(TCTN2):c.185A>C (p.Glu62Ala) rs376100033 0.00001
NM_024809.5(TCTN2):c.1966T>C (p.Trp656Arg) rs756649431 0.00001
NM_024809.5(TCTN2):c.2087A>G (p.Tyr696Cys) rs188690113 0.00001
NM_024809.5(TCTN2):c.267+4A>C rs199924687 0.00001
NM_024809.5(TCTN2):c.301G>T (p.Gly101Cys) rs757725319 0.00001
NM_024809.5(TCTN2):c.335C>T (p.Ser112Phe) rs1955784094 0.00001
NM_024809.5(TCTN2):c.419A>G (p.Gln140Arg) rs375814526 0.00001
NM_024809.5(TCTN2):c.469G>A (p.Val157Met) rs1299672825 0.00001
NM_024809.5(TCTN2):c.490G>A (p.Val164Met) rs776834352 0.00001
NM_024809.5(TCTN2):c.622G>C (p.Gly208Arg) rs1026850270 0.00001
NM_024809.5(TCTN2):c.677G>A (p.Arg226His) rs774785140 0.00001
NM_024809.5(TCTN2):c.688G>A (p.Asp230Asn) rs987899301 0.00001
NM_024809.5(TCTN2):c.707G>A (p.Cys236Tyr) rs1267166699 0.00001
NM_024809.5(TCTN2):c.731C>T (p.Thr244Ile) rs760376471 0.00001
NM_024809.5(TCTN2):c.796T>C (p.Tyr266His) rs770325331 0.00001
NM_024809.5(TCTN2):c.887C>T (p.Pro296Leu) rs750458642 0.00001
NM_024809.5(TCTN2):c.89T>C (p.Ile30Thr) rs760245764 0.00001
NM_024809.5(TCTN2):c.908A>T (p.Gln303Leu) rs759754931 0.00001
NM_024809.5(TCTN2):c.914T>C (p.Met305Thr) rs1166016156 0.00001
NM_025114.4(CEP290):c.101A>T (p.Lys34Met) rs574089816 0.00001
NM_025114.4(CEP290):c.1028T>C (p.Leu343Pro) rs1429640081 0.00001
NM_025114.4(CEP290):c.1042A>T (p.Ser348Cys) rs753281190 0.00001
NM_025114.4(CEP290):c.1066-3T>C rs996569804 0.00001
NM_025114.4(CEP290):c.10A>G (p.Asn4Asp) rs997653455 0.00001
NM_025114.4(CEP290):c.1150A>G (p.Ile384Val) rs375428355 0.00001
NM_025114.4(CEP290):c.1169A>G (p.Asn390Ser) rs891165640 0.00001
NM_025114.4(CEP290):c.1198A>G (p.Thr400Ala) rs772026871 0.00001
NM_025114.4(CEP290):c.1214C>T (p.Thr405Ile) rs781183605 0.00001
NM_025114.4(CEP290):c.1255A>G (p.Lys419Glu) rs376808205 0.00001
NM_025114.4(CEP290):c.1334_1339del (p.Leu445_Lys446del) rs1323191320 0.00001
NM_025114.4(CEP290):c.136G>A (p.Glu46Lys) rs1018550969 0.00001
NM_025114.4(CEP290):c.1430G>A (p.Arg477Gln) rs748917889 0.00001
NM_025114.4(CEP290):c.1484A>G (p.Asp495Gly) rs1228969929 0.00001
NM_025114.4(CEP290):c.1517G>A (p.Arg506His) rs866571949 0.00001
NM_025114.4(CEP290):c.1536G>T (p.Lys512Asn) rs750163383 0.00001
NM_025114.4(CEP290):c.1626T>G (p.Ile542Met) rs762272190 0.00001
NM_025114.4(CEP290):c.1646G>A (p.Arg549Gln) rs774824252 0.00001
NM_025114.4(CEP290):c.1665A>T (p.Lys555Asn) rs374824892 0.00001
NM_025114.4(CEP290):c.1711+6C>T rs1285486059 0.00001
NM_025114.4(CEP290):c.1765A>T (p.Ile589Leu) rs770829686 0.00001
NM_025114.4(CEP290):c.1826A>G (p.Asn609Ser) rs761662102 0.00001
NM_025114.4(CEP290):c.1850T>C (p.Ile617Thr) rs776346956 0.00001
NM_025114.4(CEP290):c.1952T>C (p.Met651Thr) rs772165172 0.00001
NM_025114.4(CEP290):c.1953G>A (p.Met651Ile) rs1402439930 0.00001
NM_025114.4(CEP290):c.1999G>A (p.Val667Ile) rs1374826842 0.00001
NM_025114.4(CEP290):c.2056A>G (p.Ile686Val) rs1189284598 0.00001
NM_025114.4(CEP290):c.2068A>C (p.Asn690His) rs398124411 0.00001
NM_025114.4(CEP290):c.2113G>A (p.Val705Ile) rs769216455 0.00001
NM_025114.4(CEP290):c.2131A>G (p.Arg711Gly) rs758037479 0.00001
NM_025114.4(CEP290):c.2168G>A (p.Arg723Gln) rs764117043 0.00001
NM_025114.4(CEP290):c.2183A>G (p.Asn728Ser) rs752513342 0.00001
NM_025114.4(CEP290):c.2216A>T (p.Lys739Met) rs1378036383 0.00001
NM_025114.4(CEP290):c.2320G>C (p.Ala774Pro) rs777365811 0.00001
NM_025114.4(CEP290):c.2329A>G (p.Ile777Val) rs2038667110 0.00001
NM_025114.4(CEP290):c.2348A>G (p.Tyr783Cys) rs780990839 0.00001
NM_025114.4(CEP290):c.2408A>G (p.Asp803Gly) rs927571972 0.00001
NM_025114.4(CEP290):c.2423A>G (p.Tyr808Cys) rs773007151 0.00001
NM_025114.4(CEP290):c.2546A>T (p.Asp849Val) rs1313832672 0.00001
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile) rs764963626 0.00001
NM_025114.4(CEP290):c.2587-3C>T rs759025964 0.00001
NM_025114.4(CEP290):c.2608A>C (p.Met870Leu) rs2038321332 0.00001
NM_025114.4(CEP290):c.2691A>G (p.Ile897Met) rs774079924 0.00001
NM_025114.4(CEP290):c.2756A>G (p.Asn919Ser) rs1489447514 0.00001
NM_025114.4(CEP290):c.2772G>A (p.Met924Ile) rs1000757966 0.00001
NM_025114.4(CEP290):c.2839G>T (p.Ala947Ser) rs967541984 0.00001
NM_025114.4(CEP290):c.2909A>G (p.Asn970Ser) rs951200727 0.00001
NM_025114.4(CEP290):c.2974A>G (p.Asn992Asp) rs1265448566 0.00001
NM_025114.4(CEP290):c.2991G>A (p.Glu997=) rs2037995979 0.00001
NM_025114.4(CEP290):c.3016C>G (p.Gln1006Glu) rs1201691161 0.00001
NM_025114.4(CEP290):c.3064C>T (p.His1022Tyr) rs916545578 0.00001
NM_025114.4(CEP290):c.3098A>C (p.Lys1033Thr) rs1421960607 0.00001
NM_025114.4(CEP290):c.3176T>A (p.Ile1059Lys) rs928926898 0.00001
NM_025114.4(CEP290):c.3203A>G (p.Asn1068Ser) rs1276779845 0.00001
NM_025114.4(CEP290):c.3257C>T (p.Ser1086Leu) rs760934388 0.00001
NM_025114.4(CEP290):c.3277C>T (p.Arg1093Cys) rs778508890 0.00001
NM_025114.4(CEP290):c.331C>T (p.Arg111Trp) rs1051440600 0.00001
NM_025114.4(CEP290):c.3323A>G (p.Asn1108Ser) rs373207132 0.00001
NM_025114.4(CEP290):c.3409C>T (p.Arg1137Trp) rs759961956 0.00001
NM_025114.4(CEP290):c.3557A>G (p.Gln1186Arg) rs920028502 0.00001
NM_025114.4(CEP290):c.3626C>G (p.Ser1209Cys) rs753350609 0.00001
NM_025114.4(CEP290):c.3644C>T (p.Ala1215Val) rs1420933299 0.00001
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys) rs768864296 0.00001
NM_025114.4(CEP290):c.3731A>G (p.Glu1244Gly) rs1342978055 0.00001
NM_025114.4(CEP290):c.3757C>T (p.Arg1253Cys) rs547677441 0.00001
NM_025114.4(CEP290):c.3826G>A (p.Gly1276Arg) rs267603712 0.00001
NM_025114.4(CEP290):c.3853A>G (p.Lys1285Glu) rs765521933 0.00001
NM_025114.4(CEP290):c.3858C>A (p.Phe1286Leu) rs1353300022 0.00001
NM_025114.4(CEP290):c.3899T>C (p.Ile1300Thr) rs1460182061 0.00001
NM_025114.4(CEP290):c.3911T>C (p.Met1304Thr) rs761010723 0.00001
NM_025114.4(CEP290):c.3976A>G (p.Lys1326Glu) rs377156725 0.00001
NM_025114.4(CEP290):c.4045A>G (p.Met1349Val) rs923112337 0.00001
NM_025114.4(CEP290):c.4150C>T (p.Arg1384Cys) rs794727563 0.00001
NM_025114.4(CEP290):c.419A>G (p.Lys140Arg) rs750776051 0.00001
NM_025114.4(CEP290):c.4246C>T (p.Arg1416Cys) rs776812442 0.00001
NM_025114.4(CEP290):c.4257C>A (p.Asp1419Glu) rs771898047 0.00001
NM_025114.4(CEP290):c.4288A>C (p.Asn1430His) rs749261915 0.00001
NM_025114.4(CEP290):c.4302+5G>A rs1013125589 0.00001
NM_025114.4(CEP290):c.4337G>A (p.Ser1446Asn) rs746106679 0.00001
NM_025114.4(CEP290):c.4383G>T (p.Lys1461Asn) rs769732992 0.00001
NM_025114.4(CEP290):c.4471G>A (p.Ala1491Thr) rs771133112 0.00001
NM_025114.4(CEP290):c.4485A>G (p.Ile1495Met) rs1328019408 0.00001
NM_025114.4(CEP290):c.4486C>A (p.Leu1496Met) rs1026690396 0.00001
NM_025114.4(CEP290):c.4501G>A (p.Val1501Ile) rs769989974 0.00001
NM_025114.4(CEP290):c.452G>A (p.Arg151Gln) rs753374614 0.00001
NM_025114.4(CEP290):c.4634T>C (p.Met1545Thr) rs1217427527 0.00001
NM_025114.4(CEP290):c.4681C>T (p.Arg1561Cys) rs763605289 0.00001
NM_025114.4(CEP290):c.4697C>T (p.Ala1566Val) rs751408783 0.00001
NM_025114.4(CEP290):c.4730A>G (p.His1577Arg) rs751352443 0.00001
NM_025114.4(CEP290):c.4812+6A>T rs769525877 0.00001
NM_025114.4(CEP290):c.4813G>T (p.Asp1605Tyr) rs554863859 0.00001
NM_025114.4(CEP290):c.4817T>C (p.Leu1606Ser) rs767636506 0.00001
NM_025114.4(CEP290):c.4854G>T (p.Lys1618Asn) rs747852436 0.00001
NM_025114.4(CEP290):c.4936A>C (p.Lys1646Gln) rs1348715646 0.00001
NM_025114.4(CEP290):c.4948G>T (p.Asp1650Tyr) rs368057362 0.00001
NM_025114.4(CEP290):c.4C>T (p.Pro2Ser) rs1064795491 0.00001
NM_025114.4(CEP290):c.50A>C (p.Asp17Ala) rs1182703361 0.00001
NM_025114.4(CEP290):c.5167A>G (p.Met1723Val) rs542400806 0.00001
NM_025114.4(CEP290):c.5218C>G (p.Gln1740Glu) rs936648881 0.00001
NM_025114.4(CEP290):c.521A>T (p.Glu174Val) rs774484028 0.00001
NM_025114.4(CEP290):c.533A>G (p.Gln178Arg) rs773591434 0.00001
NM_025114.4(CEP290):c.5423G>A (p.Ser1808Asn) rs763278328 0.00001
NM_025114.4(CEP290):c.5449G>T (p.Asp1817Tyr) rs1565822715 0.00001
NM_025114.4(CEP290):c.5459A>G (p.Asn1820Ser) rs776980750 0.00001
NM_025114.4(CEP290):c.5480A>C (p.Gln1827Pro) rs771657596 0.00001
NM_025114.4(CEP290):c.5543A>G (p.Asp1848Gly) rs563967678 0.00001
NM_025114.4(CEP290):c.5621T>C (p.Ile1874Thr) rs781335780 0.00001
NM_025114.4(CEP290):c.5707A>G (p.Lys1903Glu) rs878855334 0.00001
NM_025114.4(CEP290):c.5709+5G>A rs2035845308 0.00001
NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu) rs746949236 0.00001
NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys) rs562477272 0.00001
NM_025114.4(CEP290):c.5921T>C (p.Val1974Ala) rs1354836663 0.00001
NM_025114.4(CEP290):c.5933G>A (p.Arg1978Gln) rs774881412 0.00001
NM_025114.4(CEP290):c.6070T>C (p.Tyr2024His) rs745998591 0.00001
NM_025114.4(CEP290):c.6098A>G (p.Glu2033Gly) rs756608200 0.00001
NM_025114.4(CEP290):c.6235C>A (p.Leu2079Ile) rs753687613 0.00001
NM_025114.4(CEP290):c.6346C>T (p.His2116Tyr) rs2034573032 0.00001
NM_025114.4(CEP290):c.634A>T (p.Asn212Tyr) rs527704077 0.00001
NM_025114.4(CEP290):c.6353G>C (p.Arg2118Thr) rs1208196086 0.00001
NM_025114.4(CEP290):c.6357+3A>G rs777062671 0.00001
NM_025114.4(CEP290):c.6371G>A (p.Gly2124Glu) rs752851135 0.00001
NM_025114.4(CEP290):c.6460G>A (p.Ala2154Thr) rs1319955144 0.00001
NM_025114.4(CEP290):c.6547C>T (p.His2183Tyr) rs535765861 0.00001
NM_025114.4(CEP290):c.6575A>G (p.Tyr2192Cys) rs1222842886 0.00001
NM_025114.4(CEP290):c.6580T>A (p.Ser2194Thr) rs768539400 0.00001
NM_025114.4(CEP290):c.6599A>G (p.Glu2200Gly) rs779145328 0.00001
NM_025114.4(CEP290):c.6624G>C (p.Arg2208Ser) rs777841957 0.00001
NM_025114.4(CEP290):c.6645+6A>T rs765992358 0.00001
NM_025114.4(CEP290):c.6671G>A (p.Arg2224Gln) rs1214939378 0.00001
NM_025114.4(CEP290):c.6778G>C (p.Gly2260Arg) rs371397659 0.00001
NM_025114.4(CEP290):c.6791A>G (p.Lys2264Arg) rs535571590 0.00001
NM_025114.4(CEP290):c.6807T>G (p.Ile2269Met) rs1355908667 0.00001
NM_025114.4(CEP290):c.6818+5G>A rs935214183 0.00001
NM_025114.4(CEP290):c.6859G>A (p.Ala2287Thr) rs1212611161 0.00001
NM_025114.4(CEP290):c.6941A>G (p.Asn2314Ser) rs148173636 0.00001
NM_025114.4(CEP290):c.7004A>G (p.Gln2335Arg) rs1424407266 0.00001
NM_025114.4(CEP290):c.7035A>G (p.Arg2345=) rs760964107 0.00001
NM_025114.4(CEP290):c.7082A>G (p.Gln2361Arg) rs766016762 0.00001
NM_025114.4(CEP290):c.7155A>G (p.Ile2385Met) rs770168358 0.00001
NM_025114.4(CEP290):c.7210-16A>G rs762987255 0.00001
NM_025114.4(CEP290):c.7213G>A (p.Glu2405Lys) rs1393659962 0.00001
NM_025114.4(CEP290):c.722A>G (p.Lys241Arg) rs199790246 0.00001
NM_025114.4(CEP290):c.7240G>A (p.Glu2414Lys) rs1233939358 0.00001
NM_025114.4(CEP290):c.726T>A (p.Asn242Lys) rs949161264 0.00001
NM_025114.4(CEP290):c.7311G>T (p.Lys2437Asn) rs534440681 0.00001
NM_025114.4(CEP290):c.7333G>A (p.Val2445Ile) rs756042946 0.00001
NM_025114.4(CEP290):c.7372A>G (p.Ser2458Gly) rs762238709 0.00001
NM_025114.4(CEP290):c.7375C>T (p.Pro2459Ser) rs754398792 0.00001
NM_025114.4(CEP290):c.7416T>A (p.Ser2472Arg) rs794727762 0.00001
NM_025114.4(CEP290):c.772A>C (p.Asn258His) rs979378806 0.00001
NM_025114.4(CEP290):c.784G>A (p.Ala262Thr) rs1331352301 0.00001
NM_025114.4(CEP290):c.787A>G (p.Ile263Val) rs1477583890 0.00001
NM_025114.4(CEP290):c.79A>G (p.Asn27Asp) rs753760503 0.00001
NM_025114.4(CEP290):c.838C>T (p.His280Tyr) rs575493480 0.00001
NM_025114.4(CEP290):c.869A>G (p.Asp290Gly) rs958209779 0.00001
NM_153704.6(TMEM67):c.1066C>G (p.Leu356Val) rs1371143789 0.00001
NM_153704.6(TMEM67):c.1145T>G (p.Ile382Ser) rs1212851821 0.00001
NM_153704.6(TMEM67):c.1209T>G (p.Asp403Glu) rs1160691103 0.00001
NM_153704.6(TMEM67):c.1288+6A>G rs766852784 0.00001
NM_153704.6(TMEM67):c.1294A>G (p.Asn432Asp) rs768285863 0.00001
NM_153704.6(TMEM67):c.152A>G (p.Asn51Ser) rs1165968607 0.00001
NM_153704.6(TMEM67):c.1588G>A (p.Val530Ile) rs774701716 0.00001
NM_153704.6(TMEM67):c.1886T>A (p.Ile629Lys) rs1213811614 0.00001
NM_153704.6(TMEM67):c.1895T>G (p.Ile632Ser) rs1440787153 0.00001
NM_153704.6(TMEM67):c.1976G>A (p.Arg659Gln) rs769827614 0.00001
NM_153704.6(TMEM67):c.1A>G (p.Met1Val) rs772948173 0.00001
NM_153704.6(TMEM67):c.2100+3A>G rs376417882 0.00001
NM_153704.6(TMEM67):c.2176C>T (p.Pro726Ser) rs746521577 0.00001
NM_153704.6(TMEM67):c.2188A>G (p.Ile730Val) rs776427277 0.00001
NM_153704.6(TMEM67):c.2237T>C (p.Ile746Thr) rs947256938 0.00001
NM_153704.6(TMEM67):c.226A>G (p.Thr76Ala) rs747598603 0.00001
NM_153704.6(TMEM67):c.2335C>G (p.Leu779Val) rs762351497 0.00001
NM_153704.6(TMEM67):c.239G>A (p.Cys80Tyr) rs1812545095 0.00001
NM_153704.6(TMEM67):c.2438C>T (p.Ala813Val) rs199874479 0.00001
NM_153704.6(TMEM67):c.2447T>G (p.Leu816Trp) rs753654003 0.00001
NM_153704.6(TMEM67):c.2661+4T>C rs1298703067 0.00001
NM_153704.6(TMEM67):c.269A>G (p.Asn90Ser) rs1461948623 0.00001
NM_153704.6(TMEM67):c.2732T>A (p.Met911Lys) rs765686583 0.00001
NM_153704.6(TMEM67):c.2774A>G (p.Tyr925Cys) rs376103225 0.00001
NM_153704.6(TMEM67):c.2789T>C (p.Val930Ala) rs199549673 0.00001
NM_153704.6(TMEM67):c.28G>A (p.Ala10Thr) rs1247854097 0.00001
NM_153704.6(TMEM67):c.2948T>C (p.Leu983Ser) rs775933592 0.00001
NM_153704.6(TMEM67):c.2954C>T (p.Ser985Phe) rs375047471 0.00001
NM_153704.6(TMEM67):c.29C>T (p.Ala10Val) rs146838062 0.00001
NM_153704.6(TMEM67):c.601A>G (p.Thr201Ala) rs771031546 0.00001
NM_153704.6(TMEM67):c.679G>C (p.Ala227Pro) rs767886819 0.00001
NM_153704.6(TMEM67):c.75C>G (p.Phe25Leu) rs371462532 0.00001
NM_153704.6(TMEM67):c.766A>G (p.Asn256Asp) rs369178053 0.00001
NM_153704.6(TMEM67):c.88C>T (p.Leu30Phe) rs1376394849 0.00001
NM_153704.6(TMEM67):c.8C>T (p.Thr3Met) rs779950527 0.00001
NM_153704.6(TMEM67):c.926T>G (p.Val309Gly) rs750006477 0.00001
NM_153704.6(TMEM67):c.934T>C (p.Ser312Pro) rs864622335 0.00001
NM_153704.6(TMEM67):c.983C>T (p.Thr328Ile) rs776653840 0.00001
NC_000004.11:g.(?_15477557)_(16228080_?)dup
NC_000004.11:g.15589466_15589468delGAA rs794729225
NC_000006.11:g.(?_135606783)_(135813375_?)dup
NC_000006.11:g.(?_135644280)_(135813375_?)dup
NC_000006.11:g.(?_135679250)_(135813375_?)dup
NC_000006.11:g.(?_135768146)_(135774574_?)del
NC_000006.11:g.(?_135811741)_(135813375_?)dup
NC_000006.12:g.(?_135394776)_(135411544_?)del
NC_000006.12:g.135404974CCT[1]
NC_000008.10:g.(?_94767143)_(94828680_?)dup
NC_000008.11:g.93799747GGAATTATACAGGTAA[3]
NC_000009.11:g.(?_139297240)_(139572028_?)dup
NC_000009.11:g.(?_139328469)_(139333871_?)dup
NC_000009.11:g.(?_139333040)_(139333871_?)dup
NC_000009.12:g.(?_136434017)_(136439439_?)dup
NC_000009.12:g.(?_136434037)_(136457584_?)dup
NC_000011.9:g.(?_61165722)_(61197674_?)dup
NC_000012.11:g.(?_124114696)_(124192260_?)dup
NC_000012.11:g.(?_124158142)_(124163856_?)dup
NC_000012.11:g.(?_124177185)_(124177290_?)del
NC_000012.11:g.(?_124192131)_(124192260_?)del
NC_000012.11:g.(?_88442955)_(88449500_?)dup
NC_000012.11:g.(?_88442961)_(88449494_?)dup
NC_000012.11:g.(?_88532902)_(88533361_?)del
NC_000012.12:g.(?_123671221)_(123707733_?)dup
NC_000012.12:g.(?_123692638)_(123707733_?)dup
NC_000016.9:g.(?_53635988)_(53656288_?)del
NC_000016.9:g.(?_53635988)_(54967785_?)dup
NC_000016.9:g.(?_53656111)_(53656288_?)dup
NC_000017.10:g.(?_16842861)_(19578885_?)dup
NC_000017.10:g.(?_19263613)_(19265882_?)dup
NC_000017.10:g.(?_54671585)_(59938900_?)dup
NC_000017.11:g.(?_58206283)_(58206581_?)del
NC_000019.9:g.(?_41854180)_(41869424_?)dup
NC_000023.10:g.(?_13732526)_(13762658_?)dup
NC_000023.10:g.(?_13732526)_(13787227_?)dup
NC_000023.10:g.(?_13734103)_(13787227_?)dup
NC_000023.10:g.(?_13753080)_(13754816_?)dup
NC_000023.10:g.(?_13753185)_(13787232_?)dup
NM_001082538.3(TCTN1):c.1004_1013delinsCCTCACATACACAGCCTCACATACACAG (p.Asp335_Glu338delinsAlaSerHisThrGlnProHisIleHisArg)
NM_001082538.3(TCTN1):c.1009G>C (p.Gly337Arg) rs2136130583
NM_001082538.3(TCTN1):c.1030C>A (p.Leu344Ile) rs1056341678
NM_001082538.3(TCTN1):c.1033T>A (p.Ser345Thr) rs2066918404
NM_001082538.3(TCTN1):c.1039G>A (p.Val347Ile) rs199967338
NM_001082538.3(TCTN1):c.1045G>A (p.Gly349Arg)
NM_001082538.3(TCTN1):c.1079A>G (p.Gln360Arg) rs774343613
NM_001082538.3(TCTN1):c.1083G>C (p.Lys361Asn)
NM_001082538.3(TCTN1):c.1086T>G (p.Phe362Leu) rs2066921812
NM_001082538.3(TCTN1):c.1109A>G (p.Asn370Ser)
NM_001082538.3(TCTN1):c.1219T>C (p.Tyr407His)
NM_001082538.3(TCTN1):c.121G>T (p.Ala41Ser)
NM_001082538.3(TCTN1):c.1222G>A (p.Gly408Arg)
NM_001082538.3(TCTN1):c.1235T>C (p.Ile412Thr) rs2136144284
NM_001082538.3(TCTN1):c.125T>C (p.Leu42Pro) rs1415245710
NM_001082538.3(TCTN1):c.1279G>A (p.Val427Ile) rs560599144
NM_001082538.3(TCTN1):c.1283G>A (p.Arg428Gln)
NM_001082538.3(TCTN1):c.1337C>G (p.Thr446Ser)
NM_001082538.3(TCTN1):c.1351T>G (p.Cys451Gly)
NM_001082538.3(TCTN1):c.1360G>T (p.Val454Leu) rs369759157
NM_001082538.3(TCTN1):c.1361T>C (p.Val454Ala)
NM_001082538.3(TCTN1):c.1380C>G (p.Ser460Arg) rs2136171528
NM_001082538.3(TCTN1):c.1415C>A (p.Ala472Asp)
NM_001082538.3(TCTN1):c.1417C>T (p.Pro473Ser) rs757074241
NM_001082538.3(TCTN1):c.146C>G (p.Pro49Arg) rs571241015
NM_001082538.3(TCTN1):c.146C>T (p.Pro49Leu)
NM_001082538.3(TCTN1):c.1489A>G (p.Arg497Gly)
NM_001082538.3(TCTN1):c.1494+21del
NM_001082538.3(TCTN1):c.1517G>A (p.Cys506Tyr) rs2136195685
NM_001082538.3(TCTN1):c.151A>G (p.Thr51Ala)
NM_001082538.3(TCTN1):c.156G>T (p.Arg52Ser)
NM_001082538.3(TCTN1):c.1595T>A (p.Val532Asp)
NM_001082538.3(TCTN1):c.1600G>A (p.Val534Ile)
NM_001082538.3(TCTN1):c.1603A>G (p.Thr535Ala)
NM_001082538.3(TCTN1):c.1639A>G (p.Asn547Asp)
NM_001082538.3(TCTN1):c.163_164delinsAA (p.Gly55Lys)
NM_001082538.3(TCTN1):c.1641C>G (p.Asn547Lys)
NM_001082538.3(TCTN1):c.1666_1668dup (p.Ile556dup) rs773918437
NM_001082538.3(TCTN1):c.1676C>A (p.Ala559Glu) rs373723058
NM_001082538.3(TCTN1):c.1677G>A (p.Ala559=)
NM_001082538.3(TCTN1):c.167C>T (p.Thr56Ile) rs2135829550
NM_001082538.3(TCTN1):c.1685T>C (p.Phe562Ser) rs1277761197
NM_001082538.3(TCTN1):c.1687G>T (p.Val563Leu) rs1593399731
NM_001082538.3(TCTN1):c.1691A>C (p.Asp564Ala)
NM_001082538.3(TCTN1):c.1705G>A (p.Ala569Thr)
NM_001082538.3(TCTN1):c.1722A>C (p.Arg574Ser) rs560372787
NM_001082538.3(TCTN1):c.1759TTC[2] (p.Phe589del)
NM_001082538.3(TCTN1):c.1759TTC[4] (p.Phe589dup) rs1482826487
NM_001082538.3(TCTN1):c.1759_1760inv (p.Phe587Asn)
NM_001082538.3(TCTN1):c.1769C>T (p.Pro590Leu)
NM_001082538.3(TCTN1):c.19C>T (p.Pro7Ser) rs2135826823
NM_001082538.3(TCTN1):c.202C>G (p.Pro68Ala)
NM_001082538.3(TCTN1):c.205A>G (p.Thr69Ala)
NM_001082538.3(TCTN1):c.233G>C (p.Cys78Ser) rs760047850
NM_001082538.3(TCTN1):c.235G>T (p.Val79Phe)
NM_001082538.3(TCTN1):c.251C>T (p.Pro84Leu)
NM_001082538.3(TCTN1):c.284C>T (p.Pro95Leu)
NM_001082538.3(TCTN1):c.305T>G (p.Phe102Cys) rs1593225303
NM_001082538.3(TCTN1):c.316T>C (p.Ser106Pro)
NM_001082538.3(TCTN1):c.324C>G (p.Cys108Trp)
NM_001082538.3(TCTN1):c.332C>T (p.Pro111Leu)
NM_001082538.3(TCTN1):c.334G>C (p.Val112Leu) rs1461650187
NM_001082538.3(TCTN1):c.347A>G (p.Asp116Gly)
NM_001082538.3(TCTN1):c.37C>T (p.Leu13Phe) rs762387258
NM_001082538.3(TCTN1):c.395C>T (p.Thr132Ile)
NM_001082538.3(TCTN1):c.401A>G (p.Asn134Ser)
NM_001082538.3(TCTN1):c.425TTG[1] (p.Val143del)
NM_001082538.3(TCTN1):c.469A>G (p.Asn157Asp) rs1338880412
NM_001082538.3(TCTN1):c.496A>C (p.Asn166His)
NM_001082538.3(TCTN1):c.499C>A (p.Pro167Thr) rs2136005301
NM_001082538.3(TCTN1):c.512A>G (p.Asp171Gly)
NM_001082538.3(TCTN1):c.560T>C (p.Leu187Ser) rs2066031755
NM_001082538.3(TCTN1):c.586A>G (p.Thr196Ala)
NM_001082538.3(TCTN1):c.604C>T (p.Pro202Ser)
NM_001082538.3(TCTN1):c.614C>G (p.Ala205Gly)
NM_001082538.3(TCTN1):c.667C>A (p.Pro223Thr)
NM_001082538.3(TCTN1):c.667C>T (p.Pro223Ser) rs770297289
NM_001082538.3(TCTN1):c.720G>A (p.Leu240=) rs2066445334
NM_001082538.3(TCTN1):c.767G>T (p.Cys256Phe)
NM_001082538.3(TCTN1):c.782C>G (p.Ala261Gly) rs2136070459
NM_001082538.3(TCTN1):c.802A>G (p.Ser268Gly) rs771495390
NM_001082538.3(TCTN1):c.809C>A (p.Pro270Gln)
NM_001082538.3(TCTN1):c.843+4A>G
NM_001082538.3(TCTN1):c.844G>A (p.Val282Ile)
NM_001082538.3(TCTN1):c.874C>A (p.Gln292Lys)
NM_001082538.3(TCTN1):c.899G>C (p.Arg300Pro)
NM_001134831.2(AHI1):c.1000T>C (p.Tyr334His)
NM_001134831.2(AHI1):c.1003C>A (p.Pro335Thr)
NM_001134831.2(AHI1):c.1008A>T (p.Lys336Asn)
NM_001134831.2(AHI1):c.1018G>C (p.Asp340His)
NM_001134831.2(AHI1):c.1024G>A (p.Asp342Asn) rs2128081643
NM_001134831.2(AHI1):c.1028T>C (p.Leu343Pro)
NM_001134831.2(AHI1):c.1052G>A (p.Arg351Gln) rs397514726
NM_001134831.2(AHI1):c.1066A>C (p.Lys356Gln)
NM_001134831.2(AHI1):c.1085C>T (p.Ser362Phe) rs754784786
NM_001134831.2(AHI1):c.1091C>T (p.Pro364Leu)
NM_001134831.2(AHI1):c.1093A>G (p.Met365Val)
NM_001134831.2(AHI1):c.1104T>G (p.Ile368Met)
NM_001134831.2(AHI1):c.1105C>G (p.His369Asp) rs1789169805
NM_001134831.2(AHI1):c.1108G>A (p.Val370Met) rs2128081442
NM_001134831.2(AHI1):c.1111G>A (p.Val371Ile)
NM_001134831.2(AHI1):c.1151+5_1151+6insG rs1562218791
NM_001134831.2(AHI1):c.1196A>G (p.Tyr399Cys) rs1788860785
NM_001134831.2(AHI1):c.1210A>G (p.Met404Val)
NM_001134831.2(AHI1):c.1214C>A (p.Thr405Asn) rs2128077525
NM_001134831.2(AHI1):c.1216C>G (p.Gln406Glu) rs2128077516
NM_001134831.2(AHI1):c.1239A>T (p.Leu413Phe) rs1396631386
NM_001134831.2(AHI1):c.1252C>T (p.Pro418Ser)
NM_001134831.2(AHI1):c.1258T>G (p.Trp420Gly)
NM_001134831.2(AHI1):c.1261G>A (p.Glu421Lys)
NM_001134831.2(AHI1):c.1300C>T (p.Leu434Phe) rs761203456
NM_001134831.2(AHI1):c.1304G>C (p.Arg435Pro)
NM_001134831.2(AHI1):c.1310C>T (p.Ser437Phe) rs372919026
NM_001134831.2(AHI1):c.1330A>G (p.Ile444Val) rs577887220
NM_001134831.2(AHI1):c.1337T>C (p.Phe446Ser) rs773978949
NM_001134831.2(AHI1):c.1337_1338delinsAT (p.Phe446Tyr) rs2128077085
NM_001134831.2(AHI1):c.1344+4T>C
NM_001134831.2(AHI1):c.135+4A>G
NM_001134831.2(AHI1):c.135+9A>G
NM_001134831.2(AHI1):c.1357T>A (p.Leu453Ile)
NM_001134831.2(AHI1):c.137C>G (p.Pro46Arg) rs1210811690
NM_001134831.2(AHI1):c.1400A>G (p.Gln467Arg) rs2128071081
NM_001134831.2(AHI1):c.1406G>T (p.Cys469Phe)
NM_001134831.2(AHI1):c.1423G>A (p.Ala475Thr) rs1416049863
NM_001134831.2(AHI1):c.1440+3A>G
NM_001134831.2(AHI1):c.1440+5G>A
NM_001134831.2(AHI1):c.1463C>T (p.Ala488Val)
NM_001134831.2(AHI1):c.1471A>C (p.Asn491His) rs2128059224
NM_001134831.2(AHI1):c.1478A>G (p.Lys493Arg)
NM_001134831.2(AHI1):c.1484G>T (p.Arg495Leu)
NM_001134831.2(AHI1):c.1498T>A (p.Tyr500Asn) rs2128059133
NM_001134831.2(AHI1):c.1502C>T (p.Pro501Leu)
NM_001134831.2(AHI1):c.1516C>G (p.Arg506Gly) rs371637724
NM_001134831.2(AHI1):c.1520C>G (p.Ser507Cys)
NM_001134831.2(AHI1):c.152G>A (p.Ser51Asn) rs759236704
NM_001134831.2(AHI1):c.1532TTG[1] (p.Val512del) rs1787565839
NM_001134831.2(AHI1):c.153C>G (p.Ser51Arg) rs1790994808
NM_001134831.2(AHI1):c.155A>G (p.Asn52Ser)
NM_001134831.2(AHI1):c.1627A>G (p.Ile543Val)
NM_001134831.2(AHI1):c.1643G>T (p.Arg548Leu)
NM_001134831.2(AHI1):c.164A>G (p.Tyr55Cys) rs971565169
NM_001134831.2(AHI1):c.1678C>G (p.Pro560Ala) rs1787365319
NM_001134831.2(AHI1):c.167T>C (p.Met56Thr) rs1340420754
NM_001134831.2(AHI1):c.1682T>C (p.Val561Ala) rs2128056468
NM_001134831.2(AHI1):c.1724A>T (p.Glu575Val)
NM_001134831.2(AHI1):c.1735G>A (p.Glu579Lys) rs1787353725
NM_001134831.2(AHI1):c.1780-3T>C rs1786509189
NM_001134831.2(AHI1):c.1796A>G (p.Asn599Ser) rs1429959840
NM_001134831.2(AHI1):c.1813C>A (p.Leu605Ile)
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro) rs374009466
NM_001134831.2(AHI1):c.1849T>A (p.Phe617Ile) rs769173709
NM_001134831.2(AHI1):c.1858A>G (p.Asn620Asp)
NM_001134831.2(AHI1):c.1867A>G (p.Ile623Val)
NM_001134831.2(AHI1):c.186T>A (p.Asp62Glu)
NM_001134831.2(AHI1):c.1879G>C (p.Ala627Pro)
NM_001134831.2(AHI1):c.1898G>A (p.Gly633Glu) rs2128046191
NM_001134831.2(AHI1):c.1901A>G (p.Tyr634Cys)
NM_001134831.2(AHI1):c.1904C>T (p.Pro635Leu) rs371531507
NM_001134831.2(AHI1):c.1906A>G (p.Ile636Val)
NM_001134831.2(AHI1):c.1934G>A (p.Arg645His) rs772513002
NM_001134831.2(AHI1):c.1934G>C (p.Arg645Pro) rs772513002
NM_001134831.2(AHI1):c.1939A>T (p.Met647Leu)
NM_001134831.2(AHI1):c.1941G>T (p.Met647Ile)
NM_001134831.2(AHI1):c.1959C>A (p.His653Gln)
NM_001134831.2(AHI1):c.1964A>G (p.Asn655Ser)
NM_001134831.2(AHI1):c.1975G>T (p.Asp659Tyr) rs1323210459
NM_001134831.2(AHI1):c.1978C>G (p.Leu660Val)
NM_001134831.2(AHI1):c.1987T>C (p.Ser663Pro)
NM_001134831.2(AHI1):c.2003A>G (p.Tyr668Cys) rs1785741670
NM_001134831.2(AHI1):c.2005A>G (p.Ile669Val) rs371198770
NM_001134831.2(AHI1):c.2027G>T (p.Gly676Val)
NM_001134831.2(AHI1):c.2030C>T (p.Thr677Ile) rs758363344
NM_001134831.2(AHI1):c.2036+6T>G rs2128037867
NM_001134831.2(AHI1):c.2037-8T>G
NM_001134831.2(AHI1):c.2080T>C (p.Leu694=)
NM_001134831.2(AHI1):c.2092T>A (p.Ser698Thr) rs2128022901
NM_001134831.2(AHI1):c.2123C>T (p.Ala708Val)
NM_001134831.2(AHI1):c.2128A>G (p.Arg710Gly)
NM_001134831.2(AHI1):c.2132_2146del (p.Glu711_Thr715del) rs1305959685
NM_001134831.2(AHI1):c.2167C>T (p.Arg723Trp)
NM_001134831.2(AHI1):c.2171T>C (p.Ile724Thr)
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg) rs863225144
NM_001134831.2(AHI1):c.2194G>C (p.Asp732His) rs200697251
NM_001134831.2(AHI1):c.2205A>G (p.Ile735Met) rs956311950
NM_001134831.2(AHI1):c.2209G>A (p.Val737Ile) rs1227775795
NM_001134831.2(AHI1):c.2215C>G (p.Gln739Glu)
NM_001134831.2(AHI1):c.2223_2224inv (p.Val742Ile)
NM_001134831.2(AHI1):c.2230A>G (p.Lys744Glu)
NM_001134831.2(AHI1):c.2240T>G (p.Ile747Ser) rs1784889346
NM_001134831.2(AHI1):c.2260A>G (p.Thr754Ala) rs752392677
NM_001134831.2(AHI1):c.2261C>T (p.Thr754Ile)
NM_001134831.2(AHI1):c.2266G>C (p.Gly756Arg)
NM_001134831.2(AHI1):c.2270A>T (p.His757Leu) rs2128016998
NM_001134831.2(AHI1):c.2272C>T (p.His758Tyr)
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001134831.2(AHI1):c.2290T>G (p.Cys764Gly) rs1029862405
NM_001134831.2(AHI1):c.2291G>A (p.Cys764Tyr) rs1355452076
NM_001134831.2(AHI1):c.229A>G (p.Thr77Ala) rs558131794
NM_001134831.2(AHI1):c.2308G>A (p.Val770Ile) rs1049221524
NM_001134831.2(AHI1):c.2315A>G (p.Asn772Ser) rs2128016790
NM_001134831.2(AHI1):c.2326A>C (p.Lys776Gln) rs778249065
NM_001134831.2(AHI1):c.2335G>A (p.Asp779Asn) rs1583199685
NM_001134831.2(AHI1):c.2350G>C (p.Val784Leu) rs1377937999
NM_001134831.2(AHI1):c.235A>G (p.Ser79Gly)
NM_001134831.2(AHI1):c.2362A>C (p.Thr788Pro) rs1583199499
NM_001134831.2(AHI1):c.2372A>G (p.Lys791Arg)
NM_001134831.2(AHI1):c.2380A>G (p.Lys794Glu)
NM_001134831.2(AHI1):c.239A>G (p.Asp80Gly) rs1790752699
NM_001134831.2(AHI1):c.2405C>T (p.Pro802Leu)
NM_001134831.2(AHI1):c.244G>A (p.Val82Ile) rs2128098836
NM_001134831.2(AHI1):c.2451C>G (p.Ile817Met)
NM_001134831.2(AHI1):c.2479A>G (p.Met827Val)
NM_001134831.2(AHI1):c.2484T>A (p.Asp828Glu)
NM_001134831.2(AHI1):c.2500G>T (p.Ala834Ser)
NM_001134831.2(AHI1):c.2501C>T (p.Ala834Val) rs529407899
NM_001134831.2(AHI1):c.2512G>A (p.Val838Ile)
NM_001134831.2(AHI1):c.251C>T (p.Ala84Val) rs1445914255
NM_001134831.2(AHI1):c.2530C>G (p.Arg844Gly) rs773787232
NM_001134831.2(AHI1):c.2552T>C (p.Leu851Ser) rs2128009440
NM_001134831.2(AHI1):c.2567C>T (p.Thr856Ile)
NM_001134831.2(AHI1):c.2584A>C (p.Ser862Arg) rs2128009310
NM_001134831.2(AHI1):c.2594G>A (p.Gly865Asp)
NM_001134831.2(AHI1):c.259A>T (p.Thr87Ser)
NM_001134831.2(AHI1):c.260C>G (p.Thr87Ser) rs2128098808
NM_001134831.2(AHI1):c.2614C>A (p.Pro872Thr) rs1784233788
NM_001134831.2(AHI1):c.2620A>G (p.Thr874Ala) rs376705634
NM_001134831.2(AHI1):c.2623+3G>A rs2128009174
NM_001134831.2(AHI1):c.2623+5A>G
NM_001134831.2(AHI1):c.2623G>A (p.Gly875Arg) rs1784232614
NM_001134831.2(AHI1):c.2632G>A (p.Val878Ile) rs2128006042
NM_001134831.2(AHI1):c.2635G>A (p.Ala879Thr) rs764525761
NM_001134831.2(AHI1):c.2665C>T (p.Pro889Ser)
NM_001134831.2(AHI1):c.2677A>G (p.Ile893Val) rs372710626
NM_001134831.2(AHI1):c.2722G>A (p.Gly908Arg) rs1583179946
NM_001134831.2(AHI1):c.272A>G (p.Lys91Arg)
NM_001134831.2(AHI1):c.2734C>T (p.Pro912Ser)
NM_001134831.2(AHI1):c.2747A>G (p.Tyr916Cys) rs1583179767
NM_001134831.2(AHI1):c.2755G>A (p.Asp919Asn)
NM_001134831.2(AHI1):c.2756A>G (p.Asp919Gly)
NM_001134831.2(AHI1):c.2764+6T>C
NM_001134831.2(AHI1):c.2767G>A (p.Ala923Thr)
NM_001134831.2(AHI1):c.2768C>T (p.Ala923Val) rs1220794157
NM_001134831.2(AHI1):c.2800A>G (p.Asn934Asp) rs1365944374
NM_001134831.2(AHI1):c.2801A>G (p.Asn934Ser)
NM_001134831.2(AHI1):c.2819C>A (p.Pro940His)
NM_001134831.2(AHI1):c.284G>A (p.Arg95Lys)
NM_001134831.2(AHI1):c.2852C>T (p.Thr951Ile) rs1562703260
NM_001134831.2(AHI1):c.2866C>T (p.Pro956Ser)
NM_001134831.2(AHI1):c.286G>A (p.Val96Ile) rs2128098755
NM_001134831.2(AHI1):c.2891A>G (p.Asp964Gly)
NM_001134831.2(AHI1):c.2902C>T (p.His968Tyr) rs1253336600
NM_001134831.2(AHI1):c.2926A>T (p.Met976Leu) rs770006937
NM_001134831.2(AHI1):c.2961+3A>G rs1444567539
NM_001134831.2(AHI1):c.2962G>A (p.Glu988Lys) rs2128498551
NM_001134831.2(AHI1):c.2965G>T (p.Val989Leu)
NM_001134831.2(AHI1):c.2967G>A (p.Val989=)
NM_001134831.2(AHI1):c.2978G>C (p.Cys993Ser)
NM_001134831.2(AHI1):c.3002T>G (p.Leu1001Arg) rs1347960440
NM_001134831.2(AHI1):c.3039G>C (p.Gln1013His) rs142381345
NM_001134831.2(AHI1):c.3049A>G (p.Lys1017Glu) rs1779002936
NM_001134831.2(AHI1):c.304A>G (p.Arg102Gly)
NM_001134831.2(AHI1):c.3053A>G (p.Gln1018Arg)
NM_001134831.2(AHI1):c.3073C>G (p.Gln1025Glu) rs868723363
NM_001134831.2(AHI1):c.3086A>G (p.His1029Arg)
NM_001134831.2(AHI1):c.3101C>T (p.Thr1034Ile)
NM_001134831.2(AHI1):c.3103C>G (p.Gln1035Glu) rs1401580475
NM_001134831.2(AHI1):c.3106A>G (p.Thr1036Ala) rs1455353901
NM_001134831.2(AHI1):c.3109+3G>T rs2128484977
NM_001134831.2(AHI1):c.3109+5G>A
NM_001134831.2(AHI1):c.313C>G (p.Gln105Glu)
NM_001134831.2(AHI1):c.314A>G (p.Gln105Arg)
NM_001134831.2(AHI1):c.3158C>T (p.Ala1053Val)
NM_001134831.2(AHI1):c.3165G>A (p.Thr1055=)
NM_001134831.2(AHI1):c.3174_3185dup (p.Leu1059_Tyr1062dup) rs1348711822
NM_001134831.2(AHI1):c.3175C>G (p.Leu1059Val) rs1583719768
NM_001134831.2(AHI1):c.3181G>A (p.Asp1061Asn) rs2128384823
NM_001134831.2(AHI1):c.3187A>G (p.Thr1063Ala)
NM_001134831.2(AHI1):c.3188C>T (p.Thr1063Ile)
NM_001134831.2(AHI1):c.3191C>T (p.Ala1064Val)
NM_001134831.2(AHI1):c.3196C>G (p.Arg1066Gly) rs780163791
NM_001134831.2(AHI1):c.3203A>T (p.Asp1068Val) rs2128384768
NM_001134831.2(AHI1):c.3217C>T (p.His1073Tyr) rs374945386
NM_001134831.2(AHI1):c.3231_3233del (p.Ile1078del)
NM_001134831.2(AHI1):c.325G>C (p.Glu109Gln)
NM_001134831.2(AHI1):c.3323G>A (p.Ser1108Asn)
NM_001134831.2(AHI1):c.3329-6T>G rs2128376543
NM_001134831.2(AHI1):c.332C>G (p.Pro111Arg)
NM_001134831.2(AHI1):c.3335A>T (p.Tyr1112Phe)
NM_001134831.2(AHI1):c.3349C>G (p.Pro1117Ala)
NM_001134831.2(AHI1):c.336T>A (p.Asn112Lys)
NM_001134831.2(AHI1):c.3397A>G (p.Lys1133Glu) rs756931330
NM_001134831.2(AHI1):c.3431C>T (p.Ser1144Leu)
NM_001134831.2(AHI1):c.3467G>T (p.Gly1156Val)
NM_001134831.2(AHI1):c.3486-3T>C rs1333343554
NM_001134831.2(AHI1):c.34A>C (p.Thr12Pro) rs761288707
NM_001134831.2(AHI1):c.3546G>C (p.Met1182Ile)
NM_001134831.2(AHI1):c.3577A>G (p.Thr1193Ala)
NM_001134831.2(AHI1):c.3578C>G (p.Thr1193Ser) rs1782196497
NM_001134831.2(AHI1):c.3586G>A (p.Glu1196Lys) rs976929589
NM_001134831.2(AHI1):c.3588+2T>A rs1782194096
NM_001134831.2(AHI1):c.376A>G (p.Asn126Asp)
NM_001134831.2(AHI1):c.385G>T (p.Val129Leu)
NM_001134831.2(AHI1):c.388A>C (p.Ile130Leu) rs376751417
NM_001134831.2(AHI1):c.388A>T (p.Ile130Leu) rs376751417
NM_001134831.2(AHI1):c.390A>G (p.Ile130Met)
NM_001134831.2(AHI1):c.397G>C (p.Val133Leu)
NM_001134831.2(AHI1):c.400C>A (p.Pro134Thr) rs368077581
NM_001134831.2(AHI1):c.412A>G (p.Thr138Ala)
NM_001134831.2(AHI1):c.413C>T (p.Thr138Ile)
NM_001134831.2(AHI1):c.416A>C (p.Gln139Pro) rs1397997127
NM_001134831.2(AHI1):c.416A>G (p.Gln139Arg)
NM_001134831.2(AHI1):c.428C>T (p.Pro143Leu) rs192524061
NM_001134831.2(AHI1):c.433A>G (p.Thr145Ala)
NM_001134831.2(AHI1):c.43C>T (p.Arg15Cys) rs766052712
NM_001134831.2(AHI1):c.443A>C (p.Asn148Thr) rs2128098381
NM_001134831.2(AHI1):c.448G>A (p.Val150Ile) rs1418948476
NM_001134831.2(AHI1):c.44G>A (p.Arg15His) rs760220297
NM_001134831.2(AHI1):c.44G>T (p.Arg15Leu) rs760220297
NM_001134831.2(AHI1):c.452A>T (p.Asp151Val)
NM_001134831.2(AHI1):c.463C>G (p.Gln155Glu) rs1790707920
NM_001134831.2(AHI1):c.472C>T (p.His158Tyr) rs1468753761
NM_001134831.2(AHI1):c.482C>G (p.Pro161Arg) rs1562240075
NM_001134831.2(AHI1):c.499C>A (p.His167Asn)
NM_001134831.2(AHI1):c.49G>C (p.Glu17Gln)
NM_001134831.2(AHI1):c.520A>C (p.Asn174His) rs1375935414
NM_001134831.2(AHI1):c.521A>G (p.Asn174Ser) rs1790693034
NM_001134831.2(AHI1):c.523G>A (p.Glu175Lys) rs751749918
NM_001134831.2(AHI1):c.527G>T (p.Gly176Val) rs2128098025
NM_001134831.2(AHI1):c.538A>G (p.Thr180Ala)
NM_001134831.2(AHI1):c.556G>A (p.Glu186Lys)
NM_001134831.2(AHI1):c.562T>A (p.Leu188Met) rs775089247
NM_001134831.2(AHI1):c.575A>G (p.Tyr192Cys)
NM_001134831.2(AHI1):c.590C>A (p.Thr197Asn)
NM_001134831.2(AHI1):c.599T>C (p.Met200Thr) rs1024535791
NM_001134831.2(AHI1):c.617G>A (p.Arg206Lys)
NM_001134831.2(AHI1):c.637A>G (p.Lys213Glu) rs1790673913
NM_001134831.2(AHI1):c.706AAAAAG[1] (p.Lys238_Lys239del) rs778008442
NM_001134831.2(AHI1):c.707A>C (p.Lys236Thr)
NM_001134831.2(AHI1):c.70A>G (p.Ser24Gly) rs28395415
NM_001134831.2(AHI1):c.727G>A (p.Val243Ile)
NM_001134831.2(AHI1):c.750-16_750-15insA
NM_001134831.2(AHI1):c.751A>G (p.Thr251Ala)
NM_001134831.2(AHI1):c.756G>C (p.Leu252Phe) rs1790220318
NM_001134831.2(AHI1):c.760A>G (p.Ile254Val)
NM_001134831.2(AHI1):c.780A>T (p.Glu260Asp)
NM_001134831.2(AHI1):c.7A>T (p.Thr3Ser) rs1380181596
NM_001134831.2(AHI1):c.851C>T (p.Ser284Leu) rs1481234264
NM_001134831.2(AHI1):c.856G>C (p.Glu286Gln)
NM_001134831.2(AHI1):c.872A>C (p.Asp291Ala)
NM_001134831.2(AHI1):c.881A>G (p.Gln294Arg) rs771092146
NM_001134831.2(AHI1):c.884A>G (p.Asp295Gly) rs1368691324
NM_001134831.2(AHI1):c.889A>G (p.Thr297Ala) rs1790189960
NM_001134831.2(AHI1):c.901C>G (p.Pro301Ala)
NM_001134831.2(AHI1):c.909_917del (p.Thr304_Lys306del) rs1417477245
NM_001134831.2(AHI1):c.910A>G (p.Thr304Ala)
NM_001134831.2(AHI1):c.928G>A (p.Ala310Thr)
NM_001134831.2(AHI1):c.931+3_931+4del rs2128092551
NM_001134831.2(AHI1):c.935C>T (p.Ala312Val)
NM_001134831.2(AHI1):c.940A>C (p.Asn314His) rs1789198105
NM_001134831.2(AHI1):c.940A>G (p.Asn314Asp)
NM_001134831.2(AHI1):c.950A>T (p.Asp317Val) rs769064296
NM_001134831.2(AHI1):c.955G>A (p.Asp319Asn)
NM_001134831.2(AHI1):c.959G>C (p.Gly320Ala)
NM_001134831.2(AHI1):c.971A>G (p.His324Arg) rs1789192683
NM_001134831.2(AHI1):c.989A>T (p.Asp330Val) rs200201741
NM_001134831.2(AHI1):c.99_110del (p.30KKKL[1]) rs1192897691
NM_001173990.3(TMEM216):c.-24_12del (p.Met1_Arg4del) rs1554972391
NM_001173990.3(TMEM216):c.101A>G (p.Tyr34Cys)
NM_001173990.3(TMEM216):c.121A>G (p.Ile41Val) rs1858721272
NM_001173990.3(TMEM216):c.16C>G (p.Leu6Val)
NM_001173990.3(TMEM216):c.186G>A (p.Met62Ile) rs1858737152
NM_001173990.3(TMEM216):c.203G>T (p.Gly68Val)
NM_001173990.3(TMEM216):c.224T>G (p.Phe75Cys) rs1298138851
NM_001173990.3(TMEM216):c.226T>A (p.Phe76Ile)
NM_001173990.3(TMEM216):c.229+5G>A rs1858740729
NM_001173990.3(TMEM216):c.22A>G (p.Met8Val)
NM_001173990.3(TMEM216):c.230-10T>C rs1858829914
NM_001173990.3(TMEM216):c.259A>G (p.Met87Val)
NM_001173990.3(TMEM216):c.263C>T (p.Pro88Leu) rs565580030
NM_001173990.3(TMEM216):c.264_265delinsAG (p.Leu89Val) rs1858831429
NM_001173990.3(TMEM216):c.264_265delinsAT (p.Leu89Phe) rs1858831429
NM_001173990.3(TMEM216):c.295T>C (p.Ser99Pro) rs1238443381
NM_001173990.3(TMEM216):c.301A>C (p.Met101Leu)
NM_001173990.3(TMEM216):c.322C>A (p.Leu108Met) rs1468325310
NM_001173990.3(TMEM216):c.337G>A (p.Val113Ile)
NM_001173990.3(TMEM216):c.340C>A (p.Leu114Ile)
NM_001173990.3(TMEM216):c.344G>T (p.Arg115Leu) rs752216307
NM_001173990.3(TMEM216):c.347T>C (p.Leu116Pro)
NM_001173990.3(TMEM216):c.35-11_35-10delinsAA
NM_001173990.3(TMEM216):c.35-14T>A
NM_001173990.3(TMEM216):c.35-3del
NM_001173990.3(TMEM216):c.367A>G (p.Ile123Val) rs1202088377
NM_001173990.3(TMEM216):c.40C>G (p.Arg14Gly)
NM_001173990.3(TMEM216):c.410T>C (p.Leu137Pro) rs1351762820
NM_001173990.3(TMEM216):c.431+5T>C
NM_001173990.3(TMEM216):c.432-3C>T
NM_001173990.3(TMEM216):c.4C>G (p.Leu2Val) rs1554972407
NM_001173990.3(TMEM216):c.77T>A (p.Leu26Gln)
NM_001173990.3(TMEM216):c.7C>A (p.Pro3Thr) rs1554972409
NM_001173990.3(TMEM216):c.91A>G (p.Asn31Asp)
NM_001378615.1(CC2D2A):c.1017+3A>G
NM_001378615.1(CC2D2A):c.1017+5G>A rs2109012967
NM_001378615.1(CC2D2A):c.1042G>A (p.Gly348Ser)
NM_001378615.1(CC2D2A):c.1049T>C (p.Ile350Thr)
NM_001378615.1(CC2D2A):c.1091C>G (p.Pro364Arg) rs768618373
NM_001378615.1(CC2D2A):c.1096G>C (p.Val366Leu)
NM_001378615.1(CC2D2A):c.1102A>G (p.Thr368Ala)
NM_001378615.1(CC2D2A):c.1127A>T (p.Glu376Val) rs16892095
NM_001378615.1(CC2D2A):c.1139T>C (p.Leu380Pro)
NM_001378615.1(CC2D2A):c.113G>A (p.Arg38Lys) rs2108970106
NM_001378615.1(CC2D2A):c.1190C>T (p.Ser397Phe)
NM_001378615.1(CC2D2A):c.1196A>C (p.Asp399Ala) rs2109024009
NM_001378615.1(CC2D2A):c.119A>G (p.Lys40Arg)
NM_001378615.1(CC2D2A):c.1229T>C (p.Ile410Thr)
NM_001378615.1(CC2D2A):c.123+5G>C
NM_001378615.1(CC2D2A):c.1247C>T (p.Thr416Ile)
NM_001378615.1(CC2D2A):c.1260T>G (p.Cys420Trp) rs751436798
NM_001378615.1(CC2D2A):c.1266C>G (p.Ser422Arg) rs1229319521
NM_001378615.1(CC2D2A):c.1307A>T (p.Asp436Val)
NM_001378615.1(CC2D2A):c.130A>G (p.Thr44Ala)
NM_001378615.1(CC2D2A):c.1312T>C (p.Tyr438His)
NM_001378615.1(CC2D2A):c.1326C>A (p.His442Gln) rs1284018435
NM_001378615.1(CC2D2A):c.1331G>A (p.Arg444Lys)
NM_001378615.1(CC2D2A):c.1354G>A (p.Asp452Asn) rs1443260159
NM_001378615.1(CC2D2A):c.1360C>T (p.Leu454Phe) rs868776328
NM_001378615.1(CC2D2A):c.1371A>C (p.Leu457Phe)
NM_001378615.1(CC2D2A):c.1393C>T (p.Leu465Phe)
NM_001378615.1(CC2D2A):c.1421T>C (p.Leu474Pro)
NM_001378615.1(CC2D2A):c.1423G>A (p.Asp475Asn)
NM_001378615.1(CC2D2A):c.1465C>A (p.Arg489=) rs145678228
NM_001378615.1(CC2D2A):c.1466+4A>C
NM_001378615.1(CC2D2A):c.1469A>G (p.Gln490Arg)
NM_001378615.1(CC2D2A):c.1503_1505del (p.Lys501_Asp502delinsAsn) rs863225177
NM_001378615.1(CC2D2A):c.1511C>T (p.Thr504Ile) rs1717945434
NM_001378615.1(CC2D2A):c.1526T>C (p.Ile509Thr)
NM_001378615.1(CC2D2A):c.1533A>T (p.Lys511Asn) rs1577354625
NM_001378615.1(CC2D2A):c.1547T>C (p.Met516Thr)
NM_001378615.1(CC2D2A):c.1561G>C (p.Glu521Gln) rs756638247
NM_001378615.1(CC2D2A):c.1565T>C (p.Phe522Ser)
NM_001378615.1(CC2D2A):c.1580A>G (p.Asn527Ser) rs2109029921
NM_001378615.1(CC2D2A):c.1607+6C>A rs2109029936
NM_001378615.1(CC2D2A):c.1608-12del
NM_001378615.1(CC2D2A):c.1611A>C (p.Glu537Asp) rs762714528
NM_001378615.1(CC2D2A):c.1621C>A (p.Gln541Lys) rs1160716658
NM_001378615.1(CC2D2A):c.1632T>G (p.Asp544Glu)
NM_001378615.1(CC2D2A):c.1633G>A (p.Glu545Lys) rs749783221
NM_001378615.1(CC2D2A):c.1634AAG[1] (p.Glu546del) rs750868948
NM_001378615.1(CC2D2A):c.1640C>T (p.Ala547Val)
NM_001378615.1(CC2D2A):c.1666A>G (p.Ile556Val)
NM_001378615.1(CC2D2A):c.1670G>C (p.Ser557Thr) rs1479599144
NM_001378615.1(CC2D2A):c.1681G>C (p.Glu561Gln) rs2109034008
NM_001378615.1(CC2D2A):c.1684G>A (p.Glu562Lys)
NM_001378615.1(CC2D2A):c.1691C>A (p.Thr564Lys)
NM_001378615.1(CC2D2A):c.1693GAG[1] (p.Glu566del) rs1718166919
NM_001378615.1(CC2D2A):c.1720T>A (p.Tyr574Asn) rs768277071
NM_001378615.1(CC2D2A):c.1727C>T (p.Thr576Met)
NM_001378615.1(CC2D2A):c.1742G>C (p.Trp581Ser) rs2109034111
NM_001378615.1(CC2D2A):c.1760T>A (p.Val587Glu)
NM_001378615.1(CC2D2A):c.1760T>C (p.Val587Ala)
NM_001378615.1(CC2D2A):c.1773GAA[2] (p.Lys594del) rs886044115
NM_001378615.1(CC2D2A):c.1798GAA[1] (p.Glu601del) rs1363895451
NM_001378615.1(CC2D2A):c.179C>T (p.Pro60Leu) rs566035797
NM_001378615.1(CC2D2A):c.1804C>T (p.His602Tyr) rs753430251
NM_001378615.1(CC2D2A):c.1850T>C (p.Val617Ala) rs1718226237
NM_001378615.1(CC2D2A):c.1864C>G (p.Pro622Ala) rs1718227512
NM_001378615.1(CC2D2A):c.1879C>T (p.Arg627Trp)
NM_001378615.1(CC2D2A):c.1891G>C (p.Glu631Gln)
NM_001378615.1(CC2D2A):c.1895A>G (p.Gln632Arg) rs777510836
NM_001378615.1(CC2D2A):c.1910G>C (p.Arg637Thr)
NM_001378615.1(CC2D2A):c.1952T>C (p.Val651Ala) rs762298895
NM_001378615.1(CC2D2A):c.1954C>T (p.Pro652Ser) rs2109035370
NM_001378615.1(CC2D2A):c.1960C>G (p.Leu654Val) rs2109035388
NM_001378615.1(CC2D2A):c.2006C>A (p.Ala669Glu) rs953243101
NM_001378615.1(CC2D2A):c.2010G>C (p.Glu670Asp) rs763596840
NM_001378615.1(CC2D2A):c.2025G>T (p.Glu675Asp)
NM_001378615.1(CC2D2A):c.2072AGG[1] (p.Glu692del) rs1718395356
NM_001378615.1(CC2D2A):c.209C>T (p.Thr70Ile)
NM_001378615.1(CC2D2A):c.2105G>T (p.Gly702Val)
NM_001378615.1(CC2D2A):c.2107G>A (p.Ala703Thr)
NM_001378615.1(CC2D2A):c.2151A>G (p.Ile717Met)
NM_001378615.1(CC2D2A):c.2170T>A (p.Leu724Ile) rs1718404801
NM_001378615.1(CC2D2A):c.2174C>T (p.Thr725Ile)
NM_001378615.1(CC2D2A):c.2180A>G (p.Gln727Arg) rs2109038955
NM_001378615.1(CC2D2A):c.2182-3C>T rs1560177957
NM_001378615.1(CC2D2A):c.2203A>T (p.Ser735Cys)
NM_001378615.1(CC2D2A):c.2208T>A (p.Ser736Arg) rs2109050119
NM_001378615.1(CC2D2A):c.2209C>A (p.Pro737Thr) rs1560177991
NM_001378615.1(CC2D2A):c.2251A>C (p.Thr751Pro)
NM_001378615.1(CC2D2A):c.2267G>C (p.Arg756Thr)
NM_001378615.1(CC2D2A):c.2275A>C (p.Thr759Pro) rs1226753536
NM_001378615.1(CC2D2A):c.2283A>C (p.Glu761Asp)
NM_001378615.1(CC2D2A):c.2287G>C (p.Glu763Gln)
NM_001378615.1(CC2D2A):c.232C>T (p.Arg78Trp)
NM_001378615.1(CC2D2A):c.2336G>A (p.Ser779Asn) rs2109050322
NM_001378615.1(CC2D2A):c.2338+3A>T
NM_001378615.1(CC2D2A):c.2338+4T>C
NM_001378615.1(CC2D2A):c.2362G>C (p.Asp788His) rs2109052993
NM_001378615.1(CC2D2A):c.2378T>G (p.Leu793Arg)
NM_001378615.1(CC2D2A):c.2380A>T (p.Thr794Ser)
NM_001378615.1(CC2D2A):c.2387T>C (p.Met796Thr)
NM_001378615.1(CC2D2A):c.2398A>G (p.Lys800Glu)
NM_001378615.1(CC2D2A):c.2410A>T (p.Ser804Cys) rs745751160
NM_001378615.1(CC2D2A):c.2411G>A (p.Ser804Asn)
NM_001378615.1(CC2D2A):c.2414T>C (p.Val805Ala)
NM_001378615.1(CC2D2A):c.241C>G (p.Pro81Ala)
NM_001378615.1(CC2D2A):c.2425A>G (p.Ile809Val) rs1719097213
NM_001378615.1(CC2D2A):c.2440A>G (p.Ile814Val)
NM_001378615.1(CC2D2A):c.2452C>A (p.Pro818Thr) rs1719099728
NM_001378615.1(CC2D2A):c.2456C>A (p.Pro819Gln) rs1719100127
NM_001378615.1(CC2D2A):c.246G>C (p.Arg82=)
NM_001378615.1(CC2D2A):c.248-4_248-3insAAGTTTT rs750398145
NM_001378615.1(CC2D2A):c.2482C>T (p.Arg828Trp) rs749997192
NM_001378615.1(CC2D2A):c.2486+5T>A
NM_001378615.1(CC2D2A):c.2487-3C>T
NM_001378615.1(CC2D2A):c.2487-7_2487-3del
NM_001378615.1(CC2D2A):c.2537C>A (p.Thr846Lys)
NM_001378615.1(CC2D2A):c.2537C>T (p.Thr846Ile)
NM_001378615.1(CC2D2A):c.2549A>T (p.Lys850Ile)
NM_001378615.1(CC2D2A):c.2554G>C (p.Ala852Pro) rs2109055415
NM_001378615.1(CC2D2A):c.2567C>A (p.Ala856Glu) rs1719213816
NM_001378615.1(CC2D2A):c.2575A>G (p.Lys859Glu) rs770990150
NM_001378615.1(CC2D2A):c.2605C>T (p.Pro869Ser) rs772863864
NM_001378615.1(CC2D2A):c.2625G>C (p.Ser875=) rs765873247
NM_001378615.1(CC2D2A):c.2637T>G (p.Ser879Arg) rs2109058028
NM_001378615.1(CC2D2A):c.2669T>G (p.Leu890Arg) rs1719341621
NM_001378615.1(CC2D2A):c.2687A>C (p.Glu896Ala) rs1553838206
NM_001378615.1(CC2D2A):c.2708A>G (p.Gln903Arg)
NM_001378615.1(CC2D2A):c.2729G>A (p.Arg910Gln)
NM_001378615.1(CC2D2A):c.2734A>G (p.Arg912Gly) rs574421639
NM_001378615.1(CC2D2A):c.2737C>T (p.Leu913Phe)
NM_001378615.1(CC2D2A):c.2751A>C (p.Arg917Ser)
NM_001378615.1(CC2D2A):c.2752A>G (p.Ser918Gly) rs2109058193
NM_001378615.1(CC2D2A):c.2820G>C (p.Lys940Asn)
NM_001378615.1(CC2D2A):c.2829G>T (p.Gln943His)
NM_001378615.1(CC2D2A):c.2837A>G (p.Glu946Gly) rs2109060095
NM_001378615.1(CC2D2A):c.2849G>A (p.Arg950Gln)
NM_001378615.1(CC2D2A):c.2888C>T (p.Thr963Ile)
NM_001378615.1(CC2D2A):c.2899A>G (p.Ile967Val) rs895053103
NM_001378615.1(CC2D2A):c.2912A>G (p.Tyr971Cys)
NM_001378615.1(CC2D2A):c.2927G>C (p.Arg976Thr)
NM_001378615.1(CC2D2A):c.2977G>A (p.Ala993Thr)
NM_001378615.1(CC2D2A):c.2984T>C (p.Met995Thr) rs1719533280
NM_001378615.1(CC2D2A):c.3014G>A (p.Ser1005Asn) rs1719535877
NM_001378615.1(CC2D2A):c.3015-8A>G rs2109065118
NM_001378615.1(CC2D2A):c.3017T>A (p.Ile1006Asn) rs754619415
NM_001378615.1(CC2D2A):c.3026T>C (p.Leu1009Pro)
NM_001378615.1(CC2D2A):c.3040_3041delinsGG (p.Leu1014Gly) rs2109065185
NM_001378615.1(CC2D2A):c.304G>C (p.Gly102Arg) rs1278804341
NM_001378615.1(CC2D2A):c.3064C>T (p.Arg1022Trp) rs751865030
NM_001378615.1(CC2D2A):c.3079G>T (p.Gly1027Cys)
NM_001378615.1(CC2D2A):c.3083G>A (p.Arg1028Gln)
NM_001378615.1(CC2D2A):c.3104A>T (p.Asn1035Ile) rs2109065297
NM_001378615.1(CC2D2A):c.311T>C (p.Met104Thr)
NM_001378615.1(CC2D2A):c.3122T>G (p.Ile1041Arg)
NM_001378615.1(CC2D2A):c.312G>T (p.Met104Ile) rs753884581
NM_001378615.1(CC2D2A):c.3133G>A (p.Val1045Met) rs1473580177
NM_001378615.1(CC2D2A):c.3140T>C (p.Ile1047Thr) rs778559564
NM_001378615.1(CC2D2A):c.3155A>G (p.Asp1052Gly)
NM_001378615.1(CC2D2A):c.3157A>C (p.Ile1053Leu) rs148194457
NM_001378615.1(CC2D2A):c.3159T>G (p.Ile1053Met)
NM_001378615.1(CC2D2A):c.3160C>T (p.Pro1054Ser) rs1719718448
NM_001378615.1(CC2D2A):c.3164T>C (p.Val1055Ala) rs2109065394
NM_001378615.1(CC2D2A):c.3175G>A (p.Ala1059Thr)
NM_001378615.1(CC2D2A):c.3178G>T (p.Val1060Leu)
NM_001378615.1(CC2D2A):c.3182+5G>C
NM_001378615.1(CC2D2A):c.3229C>G (p.His1077Asp) rs2109070180
NM_001378615.1(CC2D2A):c.3230A>G (p.His1077Arg)
NM_001378615.1(CC2D2A):c.3233C>T (p.Ala1078Val) rs1437673943
NM_001378615.1(CC2D2A):c.3236C>T (p.Ala1079Val)
NM_001378615.1(CC2D2A):c.3283G>A (p.Gly1095Ser) rs181260724
NM_001378615.1(CC2D2A):c.3283G>T (p.Gly1095Cys)
NM_001378615.1(CC2D2A):c.3288+5G>A rs1719939393
NM_001378615.1(CC2D2A):c.3288G>C (p.Gln1096His) rs863225169
NM_001378615.1(CC2D2A):c.3289-2del rs774235067
NM_001378615.1(CC2D2A):c.3291_3296del (p.Leu1098_Val1099del) rs1307456757
NM_001378615.1(CC2D2A):c.3295G>A (p.Val1099Ile) rs1349492467
NM_001378615.1(CC2D2A):c.3295G>T (p.Val1099Leu)
NM_001378615.1(CC2D2A):c.3298C>A (p.Arg1100Ser)
NM_001378615.1(CC2D2A):c.3299G>A (p.Arg1100His)
NM_001378615.1(CC2D2A):c.3313G>A (p.Val1105Ile)
NM_001378615.1(CC2D2A):c.3334T>G (p.Cys1112Gly) rs754824046
NM_001378615.1(CC2D2A):c.3363C>A (p.Asn1121Lys)
NM_001378615.1(CC2D2A):c.3368G>C (p.Ser1123Thr)
NM_001378615.1(CC2D2A):c.3425C>G (p.Ala1142Gly) rs1252635827
NM_001378615.1(CC2D2A):c.3435G>C (p.Gln1145His) rs1479626818
NM_001378615.1(CC2D2A):c.3445G>A (p.Asp1149Asn)
NM_001378615.1(CC2D2A):c.3447T>A (p.Asp1149Glu) rs772795748
NM_001378615.1(CC2D2A):c.3447TGT[1] (p.Val1151del)
NM_001378615.1(CC2D2A):c.3483T>G (p.His1161Gln)
NM_001378615.1(CC2D2A):c.3485A>C (p.Asp1162Ala)
NM_001378615.1(CC2D2A):c.3527C>A (p.Thr1176Asn) rs754966579
NM_001378615.1(CC2D2A):c.3527C>T (p.Thr1176Ile) rs754966579
NM_001378615.1(CC2D2A):c.352G>A (p.Ala118Thr) rs1214212437
NM_001378615.1(CC2D2A):c.3530G>A (p.Arg1177His) rs1409338849
NM_001378615.1(CC2D2A):c.353C>G (p.Ala118Gly)
NM_001378615.1(CC2D2A):c.3548T>A (p.Leu1183Gln) rs2109073973
NM_001378615.1(CC2D2A):c.3554G>A (p.Cys1185Tyr) rs1720105141
NM_001378615.1(CC2D2A):c.3562A>G (p.Met1188Val)
NM_001378615.1(CC2D2A):c.3565C>T (p.Pro1189Ser)
NM_001378615.1(CC2D2A):c.357G>C (p.Leu119Phe)
NM_001378615.1(CC2D2A):c.3605C>T (p.Thr1202Ile)
NM_001378615.1(CC2D2A):c.3616G>T (p.Asp1206Tyr)
NM_001378615.1(CC2D2A):c.3620T>C (p.Ile1207Thr) rs2109077863
NM_001378615.1(CC2D2A):c.3643A>C (p.Ser1215Arg) rs765661601
NM_001378615.1(CC2D2A):c.3649G>A (p.Glu1217Lys)
NM_001378615.1(CC2D2A):c.3668A>G (p.Glu1223Gly)
NM_001378615.1(CC2D2A):c.3685G>T (p.Val1229Phe)
NM_001378615.1(CC2D2A):c.3689G>A (p.Arg1230Gln) rs778082588
NM_001378615.1(CC2D2A):c.3707_3709dup (p.Ser1236dup) rs1720298896
NM_001378615.1(CC2D2A):c.3725T>C (p.Ile1242Thr)
NM_001378615.1(CC2D2A):c.3764G>A (p.Arg1255Gln)
NM_001378615.1(CC2D2A):c.3779C>T (p.Ser1260Phe) rs759726075
NM_001378615.1(CC2D2A):c.3790G>A (p.Glu1264Lys)
NM_001378615.1(CC2D2A):c.3799C>G (p.Leu1267Val)
NM_001378615.1(CC2D2A):c.3805G>A (p.Ala1269Thr) rs753246574
NM_001378615.1(CC2D2A):c.3814A>G (p.Lys1272Glu)
NM_001378615.1(CC2D2A):c.3856T>C (p.Cys1286Arg) rs1347377004
NM_001378615.1(CC2D2A):c.3873T>G (p.Ile1291Met)
NM_001378615.1(CC2D2A):c.3878T>C (p.Ile1293Thr)
NM_001378615.1(CC2D2A):c.3889_3890delinsCG (p.Thr1297Arg)
NM_001378615.1(CC2D2A):c.3893T>A (p.Val1298Asp) rs386833758
NM_001378615.1(CC2D2A):c.39+6T>A
NM_001378615.1(CC2D2A):c.3902C>T (p.Thr1301Ile)
NM_001378615.1(CC2D2A):c.3904C>T (p.Arg1302Cys) rs1398696429
NM_001378615.1(CC2D2A):c.3905G>A (p.Arg1302His) rs988477564
NM_001378615.1(CC2D2A):c.3924C>A (p.Asn1308Lys)
NM_001378615.1(CC2D2A):c.3943A>T (p.Asn1315Tyr)
NM_001378615.1(CC2D2A):c.3953C>G (p.Pro1318Arg)
NM_001378615.1(CC2D2A):c.395G>A (p.Arg132Gln) rs772016081
NM_001378615.1(CC2D2A):c.3976-3C>A rs576298659
NM_001378615.1(CC2D2A):c.3976-3C>T rs576298659
NM_001378615.1(CC2D2A):c.3978A>C (p.Glu1326Asp)
NM_001378615.1(CC2D2A):c.398G>A (p.Ser133Asn)
NM_001378615.1(CC2D2A):c.4001T>C (p.Leu1334Ser) rs1577396363
NM_001378615.1(CC2D2A):c.4015C>T (p.Pro1339Ser) rs781057021
NM_001378615.1(CC2D2A):c.4037G>C (p.Gly1346Ala) rs1720849726
NM_001378615.1(CC2D2A):c.4037G>T (p.Gly1346Val)
NM_001378615.1(CC2D2A):c.4065+6T>C
NM_001378615.1(CC2D2A):c.4066-11_4066-8del
NM_001378615.1(CC2D2A):c.4067A>G (p.Gln1356Arg) rs771460583
NM_001378615.1(CC2D2A):c.4068A>C (p.Gln1356His)
NM_001378615.1(CC2D2A):c.4090G>A (p.Asp1364Asn) rs768130176
NM_001378615.1(CC2D2A):c.40G>A (p.Glu14Lys)
NM_001378615.1(CC2D2A):c.4109T>C (p.Val1370Ala)
NM_001378615.1(CC2D2A):c.4126T>C (p.Phe1376Leu)
NM_001378615.1(CC2D2A):c.4130T>C (p.Leu1377Pro) rs2109090351
NM_001378615.1(CC2D2A):c.4139G>A (p.Gly1380Asp) rs1271963891
NM_001378615.1(CC2D2A):c.4144_4145delinsGC (p.Lys1382Ala)
NM_001378615.1(CC2D2A):c.4160T>C (p.Met1387Thr)
NM_001378615.1(CC2D2A):c.4171A>T (p.Ile1391Phe)
NM_001378615.1(CC2D2A):c.4186A>G (p.Thr1396Ala)
NM_001378615.1(CC2D2A):c.4189G>C (p.Ala1397Pro)
NM_001378615.1(CC2D2A):c.4206G>C (p.Trp1402Cys) rs1720998794
NM_001378615.1(CC2D2A):c.4216C>T (p.Arg1406Cys)
NM_001378615.1(CC2D2A):c.4228T>C (p.Trp1410Arg)
NM_001378615.1(CC2D2A):c.4233T>A (p.Asn1411Lys) rs1721000269
NM_001378615.1(CC2D2A):c.4234C>T (p.Pro1412Ser)
NM_001378615.1(CC2D2A):c.4240A>G (p.Ser1414Gly)
NM_001378615.1(CC2D2A):c.4241G>A (p.Ser1414Asn)
NM_001378615.1(CC2D2A):c.4244G>T (p.Gly1415Val)
NM_001378615.1(CC2D2A):c.4246C>A (p.His1416Asn)
NM_001378615.1(CC2D2A):c.4273T>C (p.Cys1425Arg)
NM_001378615.1(CC2D2A):c.4315-6_4315-3del rs926806639
NM_001378615.1(CC2D2A):c.4374G>C (p.Arg1458Ser)
NM_001378615.1(CC2D2A):c.438G>A (p.Glu146=) rs1215345163
NM_001378615.1(CC2D2A):c.439-5_492dup
NM_001378615.1(CC2D2A):c.4393T>G (p.Phe1465Val)
NM_001378615.1(CC2D2A):c.4437+4T>C
NM_001378615.1(CC2D2A):c.4437+6A>C
NM_001378615.1(CC2D2A):c.4437G>A (p.Gln1479=) rs878854168
NM_001378615.1(CC2D2A):c.4437G>C (p.Gln1479His) rs878854168
NM_001378615.1(CC2D2A):c.4460G>T (p.Arg1487Leu)
NM_001378615.1(CC2D2A):c.4465G>C (p.Asp1489His)
NM_001378615.1(CC2D2A):c.4492G>C (p.Asp1498His)
NM_001378615.1(CC2D2A):c.4496+5C>T rs1721369264
NM_001378615.1(CC2D2A):c.4496+6A>G
NM_001378615.1(CC2D2A):c.4506A>C (p.Lys1502Asn)
NM_001378615.1(CC2D2A):c.4522A>C (p.Ile1508Leu)
NM_001378615.1(CC2D2A):c.4544A>G (p.His1515Arg)
NM_001378615.1(CC2D2A):c.4601T>C (p.Leu1534Ser) rs2148495981
NM_001378615.1(CC2D2A):c.4624G>A (p.Val1542Ile) rs1721490248
NM_001378615.1(CC2D2A):c.4625T>C (p.Val1542Ala)
NM_001378615.1(CC2D2A):c.4654A>C (p.Lys1552Gln) rs2148496033
NM_001378615.1(CC2D2A):c.4666G>C (p.Asp1556His) rs1721493626
NM_001378615.1(CC2D2A):c.4674+6T>C rs1340397034
NM_001378615.1(CC2D2A):c.4679C>T (p.Ser1560Phe)
NM_001378615.1(CC2D2A):c.4690C>T (p.Leu1564Phe) rs1441082551
NM_001378615.1(CC2D2A):c.4699C>T (p.Pro1567Ser) rs2148497378
NM_001378615.1(CC2D2A):c.4705T>G (p.Ser1569Ala)
NM_001378615.1(CC2D2A):c.4718C>T (p.Pro1573Leu)
NM_001378615.1(CC2D2A):c.4733T>C (p.Val1578Ala) rs2148497423
NM_001378615.1(CC2D2A):c.4736A>G (p.Tyr1579Cys)
NM_001378615.1(CC2D2A):c.4746_4747dup (p.Val1583fs) rs1721586115
NM_001378615.1(CC2D2A):c.4757T>A (p.Ile1586Asn)
NM_001378615.1(CC2D2A):c.4784T>C (p.Leu1595Ser)
NM_001378615.1(CC2D2A):c.4808C>G (p.Pro1603Arg) rs2148497490
NM_001378615.1(CC2D2A):c.4819_4820del (p.Leu1607fs)
NM_001378615.1(CC2D2A):c.4835A>G (p.Tyr1612Cys) rs368070611
NM_001378615.1(CC2D2A):c.483A>C (p.Gln161His)
NM_001378615.1(CC2D2A):c.4844_4847del (p.Ser1615fs) rs863225175
NM_001378615.1(CC2D2A):c.4847T>A (p.Leu1616His)
NM_001378615.1(CC2D2A):c.4852C>A (p.Arg1618Ser) rs201219078
NM_001378615.1(CC2D2A):c.4852C>G (p.Arg1618Gly)
NM_001378615.1(CC2D2A):c.494G>A (p.Arg165Lys) rs911542623
NM_001378615.1(CC2D2A):c.503T>C (p.Phe168Ser) rs1226794909
NM_001378615.1(CC2D2A):c.505C>T (p.His169Tyr) rs1716491115
NM_001378615.1(CC2D2A):c.540+4A>G
NM_001378615.1(CC2D2A):c.540+5G>C
NM_001378615.1(CC2D2A):c.541-3T>A
NM_001378615.1(CC2D2A):c.541-9T>A rs1434091819
NM_001378615.1(CC2D2A):c.556C>G (p.Pro186Ala)
NM_001378615.1(CC2D2A):c.574T>A (p.Tyr192Asn)
NM_001378615.1(CC2D2A):c.58G>A (p.Glu20Lys) rs1714407144
NM_001378615.1(CC2D2A):c.596T>C (p.Phe199Ser)
NM_001378615.1(CC2D2A):c.5A>G (p.Asn2Ser)
NM_001378615.1(CC2D2A):c.602C>G (p.Pro201Arg)
NM_001378615.1(CC2D2A):c.635C>A (p.Ala212Glu)
NM_001378615.1(CC2D2A):c.644G>C (p.Arg215Thr)
NM_001378615.1(CC2D2A):c.646G>C (p.Ala216Pro)
NM_001378615.1(CC2D2A):c.663GGA[2] (p.Glu224del) rs1553825978
NM_001378615.1(CC2D2A):c.664G>A (p.Glu222Lys) rs2109007768
NM_001378615.1(CC2D2A):c.676G>A (p.Glu226Lys) rs1716561509
NM_001378615.1(CC2D2A):c.708A>T (p.Gly236=) rs1716563559
NM_001378615.1(CC2D2A):c.717+4T>C
NM_001378615.1(CC2D2A):c.733C>T (p.Leu245Phe)
NM_001378615.1(CC2D2A):c.757T>C (p.Phe253Leu)
NM_001378615.1(CC2D2A):c.781G>C (p.Ala261Pro) rs2109011616
NM_001378615.1(CC2D2A):c.786C>A (p.Asp262Glu) rs200434902
NM_001378615.1(CC2D2A):c.811G>A (p.Asp271Asn)
NM_001378615.1(CC2D2A):c.857T>A (p.Leu286His)
NM_001378615.1(CC2D2A):c.865C>T (p.Pro289Ser) rs371405756
NM_001378615.1(CC2D2A):c.889T>C (p.Tyr297His) rs2109012755
NM_001378615.1(CC2D2A):c.906G>A (p.Glu302=)
NM_001378615.1(CC2D2A):c.907A>T (p.Asn303Tyr)
NM_001378615.1(CC2D2A):c.918C>T (p.Pro306=)
NM_001378615.1(CC2D2A):c.967G>A (p.Ala323Thr)
NM_001378615.1(CC2D2A):c.968C>T (p.Ala323Val) rs2109012891
NM_001378615.1(CC2D2A):c.989T>C (p.Met330Thr) rs1553826997
NM_001378615.1(CC2D2A):c.991G>A (p.Glu331Lys) rs954758606
NM_003611.2(OFD1):c.-359-?_*253+?dup
NM_003611.3(OFD1):c.1005A>G (p.Ile335Met)
NM_003611.3(OFD1):c.1007dup (p.Ser337fs) rs749448671
NM_003611.3(OFD1):c.1014_1015insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATATAAAGAGTTTT (p.Glu339delinsPhePhePhePhePhePheXaaXaaXaaXaaTer)
NM_003611.3(OFD1):c.1030C>G (p.Arg344Gly) rs758903488
NM_003611.3(OFD1):c.1033A>C (p.Lys345Gln)
NM_003611.3(OFD1):c.1055A>C (p.Lys352Thr)
NM_003611.3(OFD1):c.1055A>G (p.Lys352Arg) rs779494159
NM_003611.3(OFD1):c.1056-3C>G
NM_003611.3(OFD1):c.1061A>T (p.Gln354Leu)
NM_003611.3(OFD1):c.1063C>T (p.Leu355Phe)
NM_003611.3(OFD1):c.1066G>C (p.Glu356Gln)
NM_003611.3(OFD1):c.1073A>G (p.Lys358Arg)
NM_003611.3(OFD1):c.1086C>G (p.Ile362Met)
NM_003611.3(OFD1):c.109A>G (p.Lys37Glu) rs2146904853
NM_003611.3(OFD1):c.1100G>C (p.Arg367Pro)
NM_003611.3(OFD1):c.111+6G>A
NM_003611.3(OFD1):c.1141C>A (p.His381Asn)
NM_003611.3(OFD1):c.1141C>G (p.His381Asp)
NM_003611.3(OFD1):c.1155G>T (p.Glu385Asp) rs2147016302
NM_003611.3(OFD1):c.1172C>T (p.Ser391Leu)
NM_003611.3(OFD1):c.1190A>G (p.Asn397Ser)
NM_003611.3(OFD1):c.1196C>G (p.Ser399Cys)
NM_003611.3(OFD1):c.1237G>T (p.Val413Phe) rs2147026202
NM_003611.3(OFD1):c.1258A>G (p.Ile420Val)
NM_003611.3(OFD1):c.1262C>G (p.Thr421Arg)
NM_003611.3(OFD1):c.1276A>C (p.Met426Leu)
NM_003611.3(OFD1):c.1277T>C (p.Met426Thr) rs1602883262
NM_003611.3(OFD1):c.1280T>C (p.Leu427Pro)
NM_003611.3(OFD1):c.1291G>T (p.Val431Phe)
NM_003611.3(OFD1):c.1300A>G (p.Met434Val)
NM_003611.3(OFD1):c.1306G>C (p.Asp436His)
NM_003611.3(OFD1):c.135T>G (p.Ile45Met)
NM_003611.3(OFD1):c.136C>G (p.His46Asp)
NM_003611.3(OFD1):c.1370A>T (p.Gln457Leu)
NM_003611.3(OFD1):c.1385G>A (p.Arg462Lys) rs2147026919
NM_003611.3(OFD1):c.1395C>G (p.Asn465Lys)
NM_003611.3(OFD1):c.1397T>C (p.Leu466Pro)
NM_003611.3(OFD1):c.1399C>A (p.Arg467Ser) rs140561107
NM_003611.3(OFD1):c.1412G>C (p.Arg471Pro)
NM_003611.3(OFD1):c.1421A>C (p.Gln474Pro)
NM_003611.3(OFD1):c.1444T>C (p.Phe482Leu)
NM_003611.3(OFD1):c.1459C>T (p.Arg487Trp)
NM_003611.3(OFD1):c.145A>T (p.Met49Leu)
NM_003611.3(OFD1):c.1475C>A (p.Ala492Asp)
NM_003611.3(OFD1):c.1477A>G (p.Ile493Val)
NM_003611.3(OFD1):c.1478T>C (p.Ile493Thr) rs2147032761
NM_003611.3(OFD1):c.148C>T (p.His50Tyr)
NM_003611.3(OFD1):c.1497G>T (p.Glu499Asp)
NM_003611.3(OFD1):c.1501G>A (p.Glu501Lys)
NM_003611.3(OFD1):c.1502A>C (p.Glu501Ala) rs2147032914
NM_003611.3(OFD1):c.1517C>G (p.Ala506Gly)
NM_003611.3(OFD1):c.1522C>T (p.His508Tyr)
NM_003611.3(OFD1):c.1528C>G (p.Gln510Glu)
NM_003611.3(OFD1):c.1540G>A (p.Glu514Lys)
NM_003611.3(OFD1):c.1543-10A>G
NM_003611.3(OFD1):c.1544T>G (p.Ile515Ser)
NM_003611.3(OFD1):c.1574T>A (p.Ile525Asn)
NM_003611.3(OFD1):c.1589C>G (p.Ala530Gly) rs2047794483
NM_003611.3(OFD1):c.1600A>G (p.Ser534Gly)
NM_003611.3(OFD1):c.1621G>A (p.Asp541Asn)
NM_003611.3(OFD1):c.1621G>C (p.Asp541His)
NM_003611.3(OFD1):c.1622A>G (p.Asp541Gly) rs369907952
NM_003611.3(OFD1):c.1636C>G (p.Leu546Val) rs2147036654
NM_003611.3(OFD1):c.1652C>G (p.Thr551Arg)
NM_003611.3(OFD1):c.1668A>C (p.Glu556Asp)
NM_003611.3(OFD1):c.16A>G (p.Asn6Asp)
NM_003611.3(OFD1):c.1712A>G (p.Asn571Ser)
NM_003611.3(OFD1):c.1715G>C (p.Gly572Ala)
NM_003611.3(OFD1):c.1732GTG[3] (p.Val579_Pro580insVal)
NM_003611.3(OFD1):c.1738C>T (p.Pro580Ser) rs2047873725
NM_003611.3(OFD1):c.1743C>G (p.Cys581Trp)
NM_003611.3(OFD1):c.1745A>G (p.Asn582Ser)
NM_003611.3(OFD1):c.1760G>A (p.Gly587Glu)
NM_003611.3(OFD1):c.176C>T (p.Pro59Leu)
NM_003611.3(OFD1):c.1777C>G (p.Pro593Ala)
NM_003611.3(OFD1):c.1784A>G (p.Lys595Arg)
NM_003611.3(OFD1):c.178C>A (p.Arg60=)
NM_003611.3(OFD1):c.178C>T (p.Arg60Trp)
NM_003611.3(OFD1):c.1793A>G (p.Asn598Ser) rs2147047869
NM_003611.3(OFD1):c.1795G>A (p.Val599Ile)
NM_003611.3(OFD1):c.179G>A (p.Arg60Gln)
NM_003611.3(OFD1):c.17A>G (p.Asn6Ser)
NM_003611.3(OFD1):c.1804C>T (p.Arg602Cys)
NM_003611.3(OFD1):c.1809G>T (p.Met603Ile)
NM_003611.3(OFD1):c.1829A>G (p.Asn610Ser) rs373706613
NM_003611.3(OFD1):c.1859C>A (p.Ser620Tyr)
NM_003611.3(OFD1):c.1859C>T (p.Ser620Phe)
NM_003611.3(OFD1):c.1879T>C (p.Phe627Leu)
NM_003611.3(OFD1):c.1892C>G (p.Thr631Ser)
NM_003611.3(OFD1):c.1894A>G (p.Lys632Glu)
NM_003611.3(OFD1):c.1898C>G (p.Ala633Gly) rs1367636282
NM_003611.3(OFD1):c.1927G>A (p.Glu643Lys)
NM_003611.3(OFD1):c.1942G>T (p.Ala648Ser)
NM_003611.3(OFD1):c.1943C>T (p.Ala648Val)
NM_003611.3(OFD1):c.1948A>G (p.Arg650Gly)
NM_003611.3(OFD1):c.1994T>C (p.Leu665Pro) rs769788132
NM_003611.3(OFD1):c.19A>G (p.Met7Val)
NM_003611.3(OFD1):c.19A>T (p.Met7Leu)
NM_003611.3(OFD1):c.2009C>T (p.Pro670Leu)
NM_003611.3(OFD1):c.2011C>T (p.Pro671Ser)
NM_003611.3(OFD1):c.2046T>G (p.Ile682Met)
NM_003611.3(OFD1):c.2071A>G (p.Ile691Val) rs2147049159
NM_003611.3(OFD1):c.2075T>C (p.Phe692Ser)
NM_003611.3(OFD1):c.2082G>C (p.Glu694Asp)
NM_003611.3(OFD1):c.2119C>T (p.Leu707Phe)
NM_003611.3(OFD1):c.211A>G (p.Ile71Val)
NM_003611.3(OFD1):c.2129G>C (p.Arg710Thr) rs2147049470
NM_003611.3(OFD1):c.2137G>A (p.Val713Ile)
NM_003611.3(OFD1):c.2152A>G (p.Thr718Ala)
NM_003611.3(OFD1):c.2171G>A (p.Arg724Lys)
NM_003611.3(OFD1):c.2182G>A (p.Gly728Ser)
NM_003611.3(OFD1):c.2210C>A (p.Thr737Lys) rs747090131
NM_003611.3(OFD1):c.2227A>G (p.Lys743Glu)
NM_003611.3(OFD1):c.2233A>C (p.Ser745Arg)
NM_003611.3(OFD1):c.2236C>T (p.Leu746Phe)
NM_003611.3(OFD1):c.2270G>C (p.Arg757Thr)
NM_003611.3(OFD1):c.2276A>T (p.His759Leu)
NM_003611.3(OFD1):c.227C>T (p.Ser76Phe) rs1569102409
NM_003611.3(OFD1):c.2290A>C (p.Ser764Arg)
NM_003611.3(OFD1):c.2308A>G (p.Met770Val)
NM_003611.3(OFD1):c.2332T>G (p.Ser778Ala)
NM_003611.3(OFD1):c.2336G>A (p.Arg779Lys)
NM_003611.3(OFD1):c.2348C>G (p.Ser783Cys)
NM_003611.3(OFD1):c.2351_2365dup (p.Ser788_Ser789insIleProProValSer)
NM_003611.3(OFD1):c.2359G>A (p.Val787Ile)
NM_003611.3(OFD1):c.2362T>A (p.Ser788Thr)
NM_003611.3(OFD1):c.2372C>T (p.Pro791Leu)
NM_003611.3(OFD1):c.2381A>G (p.Lys794Arg)
NM_003611.3(OFD1):c.2384T>C (p.Val795Ala)
NM_003611.3(OFD1):c.2386G>T (p.Gly796Cys)
NM_003611.3(OFD1):c.2396G>A (p.Arg799Gln)
NM_003611.3(OFD1):c.2414A>G (p.Gln805Arg)
NM_003611.3(OFD1):c.2420A>G (p.Lys807Arg)
NM_003611.3(OFD1):c.2423G>A (p.Ser808Asn)
NM_003611.3(OFD1):c.2450C>T (p.Ala817Val)
NM_003611.3(OFD1):c.2464GAG[1] (p.Glu823del) rs771984968
NM_003611.3(OFD1):c.2465A>G (p.Glu822Gly)
NM_003611.3(OFD1):c.2489-15T>G rs2147066461
NM_003611.3(OFD1):c.2489-16A>G
NM_003611.3(OFD1):c.2502G>A (p.Met834Ile)
NM_003611.3(OFD1):c.2510A>C (p.Gln837Pro)
NM_003611.3(OFD1):c.2519T>C (p.Met840Thr)
NM_003611.3(OFD1):c.2542G>A (p.Asp848Asn)
NM_003611.3(OFD1):c.2543A>G (p.Asp848Gly)
NM_003611.3(OFD1):c.2546T>G (p.Met849Arg)
NM_003611.3(OFD1):c.2560G>A (p.Ala854Thr)
NM_003611.3(OFD1):c.2567C>T (p.Ala856Val)
NM_003611.3(OFD1):c.257G>A (p.Gly86Asp) rs2046878445
NM_003611.3(OFD1):c.2588A>G (p.Tyr863Cys)
NM_003611.3(OFD1):c.2592G>T (p.Gln864His) rs2147067144
NM_003611.3(OFD1):c.2596C>A (p.Pro866Thr)
NM_003611.3(OFD1):c.2599+4A>C
NM_003611.3(OFD1):c.2599+5del
NM_003611.3(OFD1):c.2600G>T (p.Ser867Ile)
NM_003611.3(OFD1):c.2609A>G (p.Gln870Arg)
NM_003611.3(OFD1):c.2614C>G (p.Gln872Glu)
NM_003611.3(OFD1):c.262_273del (p.Glu88_Leu91del)
NM_003611.3(OFD1):c.2632GAA[2] (p.Glu880del)
NM_003611.3(OFD1):c.2645T>C (p.Ile882Thr)
NM_003611.3(OFD1):c.2647C>T (p.Arg883Trp)
NM_003611.3(OFD1):c.2648G>A (p.Arg883Gln)
NM_003611.3(OFD1):c.2665G>A (p.Glu889Lys)
NM_003611.3(OFD1):c.2669G>A (p.Arg890Gln)
NM_003611.3(OFD1):c.2672G>A (p.Arg891Lys)
NM_003611.3(OFD1):c.268T>G (p.Ser90Ala)
NM_003611.3(OFD1):c.2694G>C (p.Gln898His) rs2048163178
NM_003611.3(OFD1):c.26C>T (p.Thr9Ile) rs1555900190
NM_003611.3(OFD1):c.2705A>G (p.Gln902Arg)
NM_003611.3(OFD1):c.2708A>G (p.Glu903Gly)
NM_003611.3(OFD1):c.2719A>G (p.Arg907Gly) rs1569163323
NM_003611.3(OFD1):c.2747A>G (p.Tyr916Cys)
NM_003611.3(OFD1):c.2757+17G>C
NM_003611.3(OFD1):c.2757+4dup rs2048165387
NM_003611.3(OFD1):c.2757G>A (p.Arg919=) rs2048165288
NM_003611.3(OFD1):c.275C>T (p.Ser92Phe)
NM_003611.3(OFD1):c.276T>A (p.Ser92=) rs201675886
NM_003611.3(OFD1):c.2780A>T (p.Lys927Met)
NM_003611.3(OFD1):c.2841A>G (p.Ile947Met) rs2048202271
NM_003611.3(OFD1):c.2849A>C (p.Lys950Thr)
NM_003611.3(OFD1):c.2855C>T (p.Ala952Val)
NM_003611.3(OFD1):c.2867A>G (p.Asn956Ser)
NM_003611.3(OFD1):c.2873T>C (p.Leu958Ser) rs2147086332
NM_003611.3(OFD1):c.2884A>G (p.Met962Val)
NM_003611.3(OFD1):c.2893A>C (p.Ile965Leu)
NM_003611.3(OFD1):c.28G>C (p.Val10Leu)
NM_003611.3(OFD1):c.28G>T (p.Val10Leu)
NM_003611.3(OFD1):c.2904_2906dup (p.Gln969_Asp970insGln)
NM_003611.3(OFD1):c.2908G>A (p.Asp970Asn)
NM_003611.3(OFD1):c.2911C>G (p.Gln971Glu) rs1274499805
NM_003611.3(OFD1):c.2918C>G (p.Ser973Trp)
NM_003611.3(OFD1):c.2923G>C (p.Asp975His)
NM_003611.3(OFD1):c.2924_2928+62inv
NM_003611.3(OFD1):c.2940G>C (p.Lys980Asn)
NM_003611.3(OFD1):c.2969C>G (p.Thr990Arg)
NM_003611.3(OFD1):c.2969C>T (p.Thr990Met)
NM_003611.3(OFD1):c.296G>A (p.Gly99Asp)
NM_003611.3(OFD1):c.2992G>C (p.Glu998Gln)
NM_003611.3(OFD1):c.2996+4C>T
NM_003611.3(OFD1):c.2996+5C>T
NM_003611.3(OFD1):c.2997-6A>G rs2048246741
NM_003611.3(OFD1):c.29T>C (p.Val10Ala) rs2046814185
NM_003611.3(OFD1):c.3002C>T (p.Thr1001Ile)
NM_003611.3(OFD1):c.3005G>C (p.Gly1002Ala)
NM_003611.3(OFD1):c.3011C>G (p.Ser1004Cys) rs1060500182
NM_003611.3(OFD1):c.3028G>A (p.Asp1010Asn)
NM_003611.3(OFD1):c.304A>G (p.Lys102Glu)
NM_003611.3(OFD1):c.313-19T>G
NM_003611.3(OFD1):c.34G>T (p.Asp12Tyr)
NM_003611.3(OFD1):c.353A>C (p.Asn118Thr)
NM_003611.3(OFD1):c.358A>G (p.Thr120Ala)
NM_003611.3(OFD1):c.373A>C (p.Lys125Gln) rs2146928358
NM_003611.3(OFD1):c.382G>A (p.Val128Ile) rs766600036
NM_003611.3(OFD1):c.388G>C (p.Gly130Arg) rs2146928806
NM_003611.3(OFD1):c.389G>T (p.Gly130Val)
NM_003611.3(OFD1):c.397A>G (p.Lys133Glu)
NM_003611.3(OFD1):c.413-10T>C
NM_003611.3(OFD1):c.422T>C (p.Met141Thr)
NM_003611.3(OFD1):c.427T>C (p.Phe143Leu)
NM_003611.3(OFD1):c.431T>C (p.Leu144Ser)
NM_003611.3(OFD1):c.43A>G (p.Ser15Gly)
NM_003611.3(OFD1):c.43A>T (p.Ser15Cys)
NM_003611.3(OFD1):c.450TCA[1] (p.His151del) rs1569117650
NM_003611.3(OFD1):c.453T>G (p.His151Gln)
NM_003611.3(OFD1):c.491G>A (p.Ser164Asn)
NM_003611.3(OFD1):c.496A>G (p.Thr166Ala)
NM_003611.3(OFD1):c.497C>A (p.Thr166Lys)
NM_003611.3(OFD1):c.4A>G (p.Met2Val)
NM_003611.3(OFD1):c.503A>G (p.Asn168Ser)
NM_003611.3(OFD1):c.505A>G (p.Arg169Gly)
NM_003611.3(OFD1):c.512C>A (p.Ser171Tyr)
NM_003611.3(OFD1):c.550G>A (p.Ala184Thr)
NM_003611.3(OFD1):c.556G>C (p.Ala186Pro) rs1161161896
NM_003611.3(OFD1):c.568C>T (p.Arg190Cys) rs962377226
NM_003611.3(OFD1):c.571A>G (p.Ile191Val)
NM_003611.3(OFD1):c.579C>G (p.Phe193Leu)
NM_003611.3(OFD1):c.59G>A (p.Arg20His) rs2146904622
NM_003611.3(OFD1):c.602A>G (p.Asn201Ser)
NM_003611.3(OFD1):c.610A>G (p.Lys204Glu) rs1060500183
NM_003611.3(OFD1):c.61A>G (p.Lys21Glu)
NM_003611.3(OFD1):c.620_622dup (p.Ile207_Glu208insVal) rs2146968142
NM_003611.3(OFD1):c.62A>G (p.Lys21Arg)
NM_003611.3(OFD1):c.634C>G (p.Arg212Gly) rs776834508
NM_003611.3(OFD1):c.638C>G (p.Ala213Gly)
NM_003611.3(OFD1):c.654+5G>A
NM_003611.3(OFD1):c.655-6T>A
NM_003611.3(OFD1):c.672T>G (p.Asp224Glu)
NM_003611.3(OFD1):c.675C>T (p.Thr225=)
NM_003611.3(OFD1):c.713A>G (p.Tyr238Cys)
NM_003611.3(OFD1):c.755C>T (p.Ala252Val)
NM_003611.3(OFD1):c.758G>A (p.Cys253Tyr)
NM_003611.3(OFD1):c.762A>C (p.Gln254His)
NM_003611.3(OFD1):c.787C>T (p.Arg263Trp)
NM_003611.3(OFD1):c.790G>C (p.Glu264Gln)
NM_003611.3(OFD1):c.791A>T (p.Glu264Val)
NM_003611.3(OFD1):c.7G>T (p.Ala3Ser)
NM_003611.3(OFD1):c.800C>T (p.Thr267Ile)
NM_003611.3(OFD1):c.802C>T (p.Leu268Phe)
NM_003611.3(OFD1):c.822C>G (p.His274Gln)
NM_003611.3(OFD1):c.828+5T>C
NM_003611.3(OFD1):c.843A>C (p.Glu281Asp)
NM_003611.3(OFD1):c.845T>C (p.Ile282Thr)
NM_003611.3(OFD1):c.877A>T (p.Met293Leu)
NM_003611.3(OFD1):c.878T>C (p.Met293Thr)
NM_003611.3(OFD1):c.89G>A (p.Arg30Gln) rs1060500185
NM_003611.3(OFD1):c.8C>A (p.Ala3Glu)
NM_003611.3(OFD1):c.916A>G (p.Arg306Gly) rs2047424420
NM_003611.3(OFD1):c.920T>C (p.Val307Ala)
NM_003611.3(OFD1):c.920T>G (p.Val307Gly)
NM_003611.3(OFD1):c.941A>G (p.Gln314Arg)
NM_003611.3(OFD1):c.94A>G (p.Ile32Val) rs367927336
NM_003611.3(OFD1):c.956A>C (p.Glu319Ala)
NM_003611.3(OFD1):c.959A>C (p.Lys320Thr) rs2146992341
NM_003611.3(OFD1):c.962A>G (p.His321Arg)
NM_003611.3(OFD1):c.964A>G (p.Lys322Glu)
NM_003611.3(OFD1):c.967del (p.Ser323fs) rs780268478
NM_003611.3(OFD1):c.971T>C (p.Ile324Thr)
NM_003611.3(OFD1):c.974C>T (p.Thr325Ile)
NM_003611.3(OFD1):c.975_976del (p.Glu326fs)
NM_015272.5(RPGRIP1L):c.100C>G (p.Arg34Gly) rs565245381
NM_015272.5(RPGRIP1L):c.100C>T (p.Arg34Trp)
NM_015272.5(RPGRIP1L):c.1029+6C>T
NM_015272.5(RPGRIP1L):c.1031T>A (p.Leu344Gln) rs2151236847
NM_015272.5(RPGRIP1L):c.1040G>A (p.Arg347Lys)
NM_015272.5(RPGRIP1L):c.1058A>G (p.Lys353Arg)
NM_015272.5(RPGRIP1L):c.1062A>T (p.Glu354Asp)
NM_015272.5(RPGRIP1L):c.110A>T (p.Lys37Met) rs1403169303
NM_015272.5(RPGRIP1L):c.111G>T (p.Lys37Asn)
NM_015272.5(RPGRIP1L):c.1163A>G (p.Gln388Arg) rs181526554
NM_015272.5(RPGRIP1L):c.116G>T (p.Arg39Leu)
NM_015272.5(RPGRIP1L):c.1181C>T (p.Thr394Ile)
NM_015272.5(RPGRIP1L):c.1202C>T (p.Thr401Ile)
NM_015272.5(RPGRIP1L):c.1207A>G (p.Lys403Glu)
NM_015272.5(RPGRIP1L):c.121G>A (p.Ala41Thr)
NM_015272.5(RPGRIP1L):c.1226G>A (p.Arg409Lys)
NM_015272.5(RPGRIP1L):c.1243+6T>C rs751839339
NM_015272.5(RPGRIP1L):c.1244-3A>C
NM_015272.5(RPGRIP1L):c.1247A>G (p.Gln416Arg) rs753413251
NM_015272.5(RPGRIP1L):c.1258C>G (p.Leu420Val) rs1967511576
NM_015272.5(RPGRIP1L):c.1301A>G (p.Gln434Arg)
NM_015272.5(RPGRIP1L):c.1304A>G (p.Lys435Arg)
NM_015272.5(RPGRIP1L):c.130C>T (p.Arg44Cys)
NM_015272.5(RPGRIP1L):c.1310A>G (p.Gln437Arg) rs1227063404
NM_015272.5(RPGRIP1L):c.1311A>C (p.Gln437His)
NM_015272.5(RPGRIP1L):c.1328A>G (p.Lys443Arg)
NM_015272.5(RPGRIP1L):c.1334T>G (p.Ile445Arg)
NM_015272.5(RPGRIP1L):c.1343A>G (p.Tyr448Cys) rs2151164400
NM_015272.5(RPGRIP1L):c.1350G>A (p.Gln450=)
NM_015272.5(RPGRIP1L):c.1364A>G (p.Asn455Ser) rs1967458211
NM_015272.5(RPGRIP1L):c.1383A>C (p.Glu461Asp)
NM_015272.5(RPGRIP1L):c.1394T>G (p.Leu465Arg)
NM_015272.5(RPGRIP1L):c.1400A>C (p.Lys467Thr)
NM_015272.5(RPGRIP1L):c.1414C>G (p.Gln472Glu)
NM_015272.5(RPGRIP1L):c.1430T>C (p.Leu477Pro)
NM_015272.5(RPGRIP1L):c.1444A>G (p.Lys482Glu) rs1967376456
NM_015272.5(RPGRIP1L):c.1476A>C (p.Glu492Asp) rs1967370164
NM_015272.5(RPGRIP1L):c.1496A>C (p.Gln499Pro) rs2151156698
NM_015272.5(RPGRIP1L):c.1514C>T (p.Thr505Met)
NM_015272.5(RPGRIP1L):c.151G>A (p.Glu51Lys)
NM_015272.5(RPGRIP1L):c.1537A>G (p.Arg513Gly)
NM_015272.5(RPGRIP1L):c.1583T>A (p.Met528Lys)
NM_015272.5(RPGRIP1L):c.1606A>C (p.Lys536Gln)
NM_015272.5(RPGRIP1L):c.1627G>A (p.Asp543Asn)
NM_015272.5(RPGRIP1L):c.1652A>G (p.Tyr551Cys) rs1307023675
NM_015272.5(RPGRIP1L):c.1652A>T (p.Tyr551Phe) rs1307023675
NM_015272.5(RPGRIP1L):c.1675G>A (p.Ala559Thr)
NM_015272.5(RPGRIP1L):c.1699+4C>G
NM_015272.5(RPGRIP1L):c.1699+5A>C rs865956479
NM_015272.5(RPGRIP1L):c.169T>A (p.Leu57Met) rs1970745367
NM_015272.5(RPGRIP1L):c.1700C>A (p.Ala567Asp)
NM_015272.5(RPGRIP1L):c.1714A>G (p.Ile572Val)
NM_015272.5(RPGRIP1L):c.1717G>A (p.Ala573Thr) rs2151128525
NM_015272.5(RPGRIP1L):c.172C>A (p.His58Asn) rs2151379355
NM_015272.5(RPGRIP1L):c.1739A>C (p.Lys580Thr)
NM_015272.5(RPGRIP1L):c.173A>G (p.His58Arg)
NM_015272.5(RPGRIP1L):c.1743T>A (p.Phe581Leu) rs1966909934
NM_015272.5(RPGRIP1L):c.175G>C (p.Asp59His)
NM_015272.5(RPGRIP1L):c.1775A>G (p.Asp592Gly)
NM_015272.5(RPGRIP1L):c.1829A>C (p.His610Pro) rs386833997
NM_015272.5(RPGRIP1L):c.1831A>G (p.Ile611Val)
NM_015272.5(RPGRIP1L):c.1844C>A (p.Thr615Asn)
NM_015272.5(RPGRIP1L):c.1896C>G (p.Phe632Leu)
NM_015272.5(RPGRIP1L):c.1913A>G (p.Tyr638Cys) rs981992752
NM_015272.5(RPGRIP1L):c.1919T>G (p.Phe640Cys)
NM_015272.5(RPGRIP1L):c.1925T>C (p.Leu642Pro)
NM_015272.5(RPGRIP1L):c.1955A>G (p.His652Arg)
NM_015272.5(RPGRIP1L):c.196C>A (p.Gln66Lys)
NM_015272.5(RPGRIP1L):c.1972A>G (p.Thr658Ala)
NM_015272.5(RPGRIP1L):c.1991A>G (p.His664Arg)
NM_015272.5(RPGRIP1L):c.1996A>G (p.Asn666Asp)
NM_015272.5(RPGRIP1L):c.200A>G (p.His67Arg) rs763837182
NM_015272.5(RPGRIP1L):c.200A>T (p.His67Leu)
NM_015272.5(RPGRIP1L):c.2012A>G (p.Gln671Arg)
NM_015272.5(RPGRIP1L):c.2014T>C (p.Tyr672His) rs1966881046
NM_015272.5(RPGRIP1L):c.2017A>G (p.Ile673Val) rs2151125534
NM_015272.5(RPGRIP1L):c.2018T>A (p.Ile673Asn)
NM_015272.5(RPGRIP1L):c.2032A>C (p.Ile678Leu) rs958116016
NM_015272.5(RPGRIP1L):c.2032A>G (p.Ile678Val)
NM_015272.5(RPGRIP1L):c.2042A>G (p.Glu681Gly)
NM_015272.5(RPGRIP1L):c.2083_2084delinsAA (p.Ala695Lys)
NM_015272.5(RPGRIP1L):c.2090A>G (p.Gln697Arg) rs1396387199
NM_015272.5(RPGRIP1L):c.2096A>C (p.Lys699Thr)
NM_015272.5(RPGRIP1L):c.2126G>A (p.Arg709Gln)
NM_015272.5(RPGRIP1L):c.2130A>G (p.Ile710Met) rs748143379
NM_015272.5(RPGRIP1L):c.2138C>T (p.Thr713Ile) rs1016477709
NM_015272.5(RPGRIP1L):c.2141C>G (p.Ala714Gly)
NM_015272.5(RPGRIP1L):c.2156C>G (p.Thr719Arg)
NM_015272.5(RPGRIP1L):c.2158A>G (p.Lys720Glu)
NM_015272.5(RPGRIP1L):c.2196G>C (p.Trp732Cys) rs2151102358
NM_015272.5(RPGRIP1L):c.2206A>G (p.Arg736Gly)
NM_015272.5(RPGRIP1L):c.2231G>T (p.Arg744Leu)
NM_015272.5(RPGRIP1L):c.223A>G (p.Ile75Val) rs2151379062
NM_015272.5(RPGRIP1L):c.2246G>A (p.Arg749Lys) rs774573573
NM_015272.5(RPGRIP1L):c.2253G>T (p.Lys751Asn)
NM_015272.5(RPGRIP1L):c.2261G>A (p.Gly754Glu) rs1966773695
NM_015272.5(RPGRIP1L):c.2273C>T (p.Ser758Leu)
NM_015272.5(RPGRIP1L):c.2285G>A (p.Gly762Glu)
NM_015272.5(RPGRIP1L):c.2293_2301del (p.His765_Gln767del) rs1555602657
NM_015272.5(RPGRIP1L):c.2296A>G (p.Met766Val) rs2151101589
NM_015272.5(RPGRIP1L):c.230+7A>G rs1970740052
NM_015272.5(RPGRIP1L):c.2303C>T (p.Ser768Leu)
NM_015272.5(RPGRIP1L):c.2304+6C>T
NM_015272.5(RPGRIP1L):c.2305-15del
NM_015272.5(RPGRIP1L):c.2335C>T (p.Leu779Phe)
NM_015272.5(RPGRIP1L):c.233T>C (p.Met78Thr)
NM_015272.5(RPGRIP1L):c.2360G>A (p.Gly787Asp)
NM_015272.5(RPGRIP1L):c.2360G>C (p.Gly787Ala) rs996587890
NM_015272.5(RPGRIP1L):c.2380A>G (p.Ile794Val) rs781443815
NM_015272.5(RPGRIP1L):c.2381T>C (p.Ile794Thr) rs2151083626
NM_015272.5(RPGRIP1L):c.2383A>G (p.Thr795Ala) rs1393329540
NM_015272.5(RPGRIP1L):c.2384C>T (p.Thr795Ile)
NM_015272.5(RPGRIP1L):c.2389A>G (p.Arg797Gly)
NM_015272.5(RPGRIP1L):c.2398A>G (p.Asn800Asp) rs752724338
NM_015272.5(RPGRIP1L):c.2404C>G (p.Leu802Val)
NM_015272.5(RPGRIP1L):c.2444T>C (p.Val815Ala)
NM_015272.5(RPGRIP1L):c.2465T>C (p.Phe822Ser)
NM_015272.5(RPGRIP1L):c.2467G>A (p.Ala823Thr) rs1051268898
NM_015272.5(RPGRIP1L):c.2467_2468delinsTT (p.Ala823Leu) rs2151082906
NM_015272.5(RPGRIP1L):c.249A>G (p.Ile83Met)
NM_015272.5(RPGRIP1L):c.250C>G (p.Arg84Gly) rs770098954
NM_015272.5(RPGRIP1L):c.2563T>C (p.Tyr855His)
NM_015272.5(RPGRIP1L):c.256G>A (p.Val86Ile)
NM_015272.5(RPGRIP1L):c.256G>C (p.Val86Leu)
NM_015272.5(RPGRIP1L):c.2597T>C (p.Phe866Ser)
NM_015272.5(RPGRIP1L):c.2603A>G (p.Asp868Gly) rs1966497416
NM_015272.5(RPGRIP1L):c.2609A>G (p.Asp870Gly) rs1966496784
NM_015272.5(RPGRIP1L):c.2615A>G (p.Gln872Arg) rs754997198
NM_015272.5(RPGRIP1L):c.2630T>C (p.Ile877Thr) rs756072167
NM_015272.5(RPGRIP1L):c.2657C>T (p.Ser886Leu)
NM_015272.5(RPGRIP1L):c.2665C>T (p.His889Tyr)
NM_015272.5(RPGRIP1L):c.2670C>A (p.Asp890Glu)
NM_015272.5(RPGRIP1L):c.2719G>T (p.Ala907Ser) rs1966216548
NM_015272.5(RPGRIP1L):c.2726C>G (p.Thr909Ser)
NM_015272.5(RPGRIP1L):c.2729T>C (p.Ile910Thr)
NM_015272.5(RPGRIP1L):c.2743A>C (p.Lys915Gln) rs2151059707
NM_015272.5(RPGRIP1L):c.2765C>T (p.Pro922Leu) rs2151059566
NM_015272.5(RPGRIP1L):c.2767C>T (p.Pro923Ser) rs572508334
NM_015272.5(RPGRIP1L):c.2770A>C (p.Ser924Arg)
NM_015272.5(RPGRIP1L):c.2771G>A (p.Ser924Asn) rs142234650
NM_015272.5(RPGRIP1L):c.2773G>A (p.Gly925Arg) rs2151059471
NM_015272.5(RPGRIP1L):c.2774G>T (p.Gly925Val)
NM_015272.5(RPGRIP1L):c.2809C>T (p.Arg937Cys)
NM_015272.5(RPGRIP1L):c.2810G>T (p.Arg937Leu)
NM_015272.5(RPGRIP1L):c.2839C>T (p.Leu947Phe) rs576417383
NM_015272.5(RPGRIP1L):c.2840T>C (p.Leu947Pro)
NM_015272.5(RPGRIP1L):c.2842C>A (p.Pro948Thr) rs1486116698
NM_015272.5(RPGRIP1L):c.2843C>T (p.Pro948Leu) rs561327446
NM_015272.5(RPGRIP1L):c.2852C>T (p.Ser951Phe)
NM_015272.5(RPGRIP1L):c.2857G>A (p.Val953Ile)
NM_015272.5(RPGRIP1L):c.2867T>C (p.Leu956Pro)
NM_015272.5(RPGRIP1L):c.2874+4A>G
NM_015272.5(RPGRIP1L):c.2875-3T>G
NM_015272.5(RPGRIP1L):c.287G>A (p.Gly96Asp)
NM_015272.5(RPGRIP1L):c.2915A>G (p.Asp972Gly)
NM_015272.5(RPGRIP1L):c.2923G>A (p.Val975Ile)
NM_015272.5(RPGRIP1L):c.2935G>T (p.Asp979Tyr) rs370687136
NM_015272.5(RPGRIP1L):c.2952G>C (p.Gln984His)
NM_015272.5(RPGRIP1L):c.2958+3A>G rs2151056549
NM_015272.5(RPGRIP1L):c.2959-5A>G
NM_015272.5(RPGRIP1L):c.2959G>A (p.Glu987Lys) rs1467277908
NM_015272.5(RPGRIP1L):c.2960A>C (p.Glu987Ala)
NM_015272.5(RPGRIP1L):c.2962A>T (p.Thr988Ser)
NM_015272.5(RPGRIP1L):c.2963C>T (p.Thr988Ile)
NM_015272.5(RPGRIP1L):c.2968CCT[2] (p.Pro992del) rs752076060
NM_015272.5(RPGRIP1L):c.296C>T (p.Pro99Leu)
NM_015272.5(RPGRIP1L):c.2974C>G (p.Pro992Ala)
NM_015272.5(RPGRIP1L):c.2992A>G (p.Ile998Val)
NM_015272.5(RPGRIP1L):c.3007G>A (p.Glu1003Lys)
NM_015272.5(RPGRIP1L):c.3014T>C (p.Ile1005Thr)
NM_015272.5(RPGRIP1L):c.3022A>G (p.Ile1008Val)
NM_015272.5(RPGRIP1L):c.3027A>T (p.Glu1009Asp) rs2151040118
NM_015272.5(RPGRIP1L):c.3035T>C (p.Met1012Thr)
NM_015272.5(RPGRIP1L):c.3043G>C (p.Val1015Leu)
NM_015272.5(RPGRIP1L):c.3047C>T (p.Pro1016Leu) rs2151040012
NM_015272.5(RPGRIP1L):c.3061G>A (p.Val1021Ile) rs552123467
NM_015272.5(RPGRIP1L):c.3068A>G (p.Gln1023Arg)
NM_015272.5(RPGRIP1L):c.3110T>A (p.Met1037Lys) rs2151036636
NM_015272.5(RPGRIP1L):c.3124G>C (p.Asp1042His)
NM_015272.5(RPGRIP1L):c.3134C>G (p.Ser1045Cys)
NM_015272.5(RPGRIP1L):c.3142T>C (p.Ser1048Pro)
NM_015272.5(RPGRIP1L):c.3175T>C (p.Ser1059Pro)
NM_015272.5(RPGRIP1L):c.3184G>A (p.Asp1062Asn)
NM_015272.5(RPGRIP1L):c.3211G>A (p.Glu1071Lys) rs864622470
NM_015272.5(RPGRIP1L):c.3220+5C>A
NM_015272.5(RPGRIP1L):c.3221-3C>T
NM_015272.5(RPGRIP1L):c.3221-4A>G
NM_015272.5(RPGRIP1L):c.3221T>A (p.Val1074Asp)
NM_015272.5(RPGRIP1L):c.322A>G (p.Met108Val) rs1970437847
NM_015272.5(RPGRIP1L):c.3232A>C (p.Met1078Leu) rs1965842435
NM_015272.5(RPGRIP1L):c.3233T>C (p.Met1078Thr) rs1391765743
NM_015272.5(RPGRIP1L):c.3235T>G (p.Ser1079Ala) rs1295300355
NM_015272.5(RPGRIP1L):c.324G>C (p.Met108Ile)
NM_015272.5(RPGRIP1L):c.3257G>A (p.Cys1086Tyr) rs772351648
NM_015272.5(RPGRIP1L):c.325G>A (p.Glu109Lys)
NM_015272.5(RPGRIP1L):c.3263T>C (p.Ile1088Thr) rs1185071339
NM_015272.5(RPGRIP1L):c.3294+6T>C rs2151029086
NM_015272.5(RPGRIP1L):c.3295-7G>T
NM_015272.5(RPGRIP1L):c.3295-7del
NM_015272.5(RPGRIP1L):c.3310C>T (p.Pro1104Ser)
NM_015272.5(RPGRIP1L):c.3313G>C (p.Gly1105Arg) rs528501990
NM_015272.5(RPGRIP1L):c.3332C>T (p.Ala1111Val)
NM_015272.5(RPGRIP1L):c.3356G>T (p.Arg1119Leu) rs1207253947
NM_015272.5(RPGRIP1L):c.3373G>T (p.Asp1125Tyr) rs866468122
NM_015272.5(RPGRIP1L):c.3412G>A (p.Gly1138Ser) rs2150974674
NM_015272.5(RPGRIP1L):c.3428C>A (p.Thr1143Asn) rs111775292
NM_015272.5(RPGRIP1L):c.3432+4A>G rs1449225904
NM_015272.5(RPGRIP1L):c.3464C>T (p.Ala1155Val) rs1436841364
NM_015272.5(RPGRIP1L):c.3470G>C (p.Ser1157Thr)
NM_015272.5(RPGRIP1L):c.3480T>G (p.Asp1160Glu)
NM_015272.5(RPGRIP1L):c.3493A>G (p.Met1165Val) rs2150964658
NM_015272.5(RPGRIP1L):c.3497A>T (p.Asp1166Val)
NM_015272.5(RPGRIP1L):c.349G>A (p.Glu117Lys)
NM_015272.5(RPGRIP1L):c.3511C>T (p.Arg1171Trp)
NM_015272.5(RPGRIP1L):c.3512G>A (p.Arg1171Gln)
NM_015272.5(RPGRIP1L):c.3533_3535del (p.Phe1178del) rs1964556741
NM_015272.5(RPGRIP1L):c.3540T>G (p.Ser1180Arg)
NM_015272.5(RPGRIP1L):c.3580A>C (p.Lys1194Gln)
NM_015272.5(RPGRIP1L):c.3580A>G (p.Lys1194Glu)
NM_015272.5(RPGRIP1L):c.3585T>G (p.Ser1195Arg) rs376935464
NM_015272.5(RPGRIP1L):c.3608A>G (p.Tyr1203Cys)
NM_015272.5(RPGRIP1L):c.3616+6T>C
NM_015272.5(RPGRIP1L):c.3623A>G (p.Tyr1208Cys)
NM_015272.5(RPGRIP1L):c.3659T>C (p.Ile1220Thr) rs2150938312
NM_015272.5(RPGRIP1L):c.3691C>T (p.Pro1231Ser)
NM_015272.5(RPGRIP1L):c.3702-9C>A
NM_015272.5(RPGRIP1L):c.3765T>G (p.Ile1255Met) rs2150920632
NM_015272.5(RPGRIP1L):c.3766G>T (p.Gly1256Cys) rs1963628196
NM_015272.5(RPGRIP1L):c.3781G>A (p.Asp1261Asn) rs1445612197
NM_015272.5(RPGRIP1L):c.379G>A (p.Glu127Lys) rs2151352773
NM_015272.5(RPGRIP1L):c.3811_3812insT (p.Asp1271fs)
NM_015272.5(RPGRIP1L):c.3811del (p.Asp1271fs) rs761954313
NM_015272.5(RPGRIP1L):c.3827A>G (p.Asn1276Ser) rs1963622750
NM_015272.5(RPGRIP1L):c.3829A>G (p.Ile1277Val)
NM_015272.5(RPGRIP1L):c.3835+5G>A rs754798360
NM_015272.5(RPGRIP1L):c.3844G>A (p.Ala1282Thr) rs2150909535
NM_015272.5(RPGRIP1L):c.3845C>T (p.Ala1282Val) rs2150909524
NM_015272.5(RPGRIP1L):c.3848G>A (p.Arg1283Gln)
NM_015272.5(RPGRIP1L):c.3880G>A (p.Val1294Ile)
NM_015272.5(RPGRIP1L):c.3886G>A (p.Val1296Ile)
NM_015272.5(RPGRIP1L):c.3887T>A (p.Val1296Asp)
NM_015272.5(RPGRIP1L):c.3889G>A (p.Glu1297Lys)
NM_015272.5(RPGRIP1L):c.3901G>A (p.Ala1301Thr)
NM_015272.5(RPGRIP1L):c.3935A>C (p.Asp1312Ala) rs1963404223
NM_015272.5(RPGRIP1L):c.431G>A (p.Gly144Asp) rs1970430274
NM_015272.5(RPGRIP1L):c.440A>T (p.Gln147Leu) rs2151352094
NM_015272.5(RPGRIP1L):c.458T>C (p.Val153Ala) rs1970427633
NM_015272.5(RPGRIP1L):c.467G>A (p.Arg156His)
NM_015272.5(RPGRIP1L):c.467G>T (p.Arg156Leu)
NM_015272.5(RPGRIP1L):c.482G>T (p.Arg161Leu)
NM_015272.5(RPGRIP1L):c.490G>A (p.Ala164Thr)
NM_015272.5(RPGRIP1L):c.503C>T (p.Ala168Val) rs926999229
NM_015272.5(RPGRIP1L):c.505G>C (p.Gly169Arg)
NM_015272.5(RPGRIP1L):c.52_57del (p.Gly18_Leu19del)
NM_015272.5(RPGRIP1L):c.530G>A (p.Gly177Asp) rs987512823
NM_015272.5(RPGRIP1L):c.544G>A (p.Asp182Asn) rs2151325702
NM_015272.5(RPGRIP1L):c.548C>T (p.Ala183Val)
NM_015272.5(RPGRIP1L):c.556G>C (p.Ala186Pro)
NM_015272.5(RPGRIP1L):c.562A>G (p.Thr188Ala)
NM_015272.5(RPGRIP1L):c.563C>T (p.Thr188Ile)
NM_015272.5(RPGRIP1L):c.590G>C (p.Gly197Ala)
NM_015272.5(RPGRIP1L):c.59A>C (p.Asn20Thr)
NM_015272.5(RPGRIP1L):c.609A>C (p.Glu203Asp)
NM_015272.5(RPGRIP1L):c.638A>G (p.Asn213Ser) rs2151318519
NM_015272.5(RPGRIP1L):c.682T>A (p.Leu228Met)
NM_015272.5(RPGRIP1L):c.706T>A (p.Leu236Met)
NM_015272.5(RPGRIP1L):c.721A>G (p.Asn241Asp) rs1970023173
NM_015272.5(RPGRIP1L):c.740TTC[1] (p.Leu248del)
NM_015272.5(RPGRIP1L):c.752G>C (p.Arg251Pro) rs767314963
NM_015272.5(RPGRIP1L):c.803T>A (p.Met268Lys)
NM_015272.5(RPGRIP1L):c.805A>G (p.Ile269Val)
NM_015272.5(RPGRIP1L):c.86A>C (p.Glu29Ala)
NM_015272.5(RPGRIP1L):c.874C>T (p.Leu292Phe) rs1969042766
NM_015272.5(RPGRIP1L):c.882+3A>G rs1969042020
NM_015272.5(RPGRIP1L):c.882G>T (p.Glu294Asp)
NM_015272.5(RPGRIP1L):c.884A>C (p.Lys295Thr) rs2151246140
NM_015272.5(RPGRIP1L):c.890G>A (p.Arg297Lys)
NM_015272.5(RPGRIP1L):c.919A>T (p.Met307Leu)
NM_015272.5(RPGRIP1L):c.929G>A (p.Gly310Glu) rs2151245719
NM_015272.5(RPGRIP1L):c.935A>C (p.Glu312Ala) rs2151245683
NM_015272.5(RPGRIP1L):c.961C>T (p.Arg321Cys)
NM_015272.5(RPGRIP1L):c.971G>C (p.Cys324Ser)
NM_015272.5(RPGRIP1L):c.972C>G (p.Cys324Trp)
NM_015272.5(RPGRIP1L):c.980T>G (p.Leu327Arg)
NM_015272.5(RPGRIP1L):c.992T>C (p.Leu331Ser)
NM_015681.6(B9D1):c.103G>A (p.Val35Met) rs2152276184
NM_015681.6(B9D1):c.113A>G (p.Gln38Arg) rs1248771637
NM_015681.6(B9D1):c.124C>A (p.Pro42Thr) rs2152276151
NM_015681.6(B9D1):c.182G>A (p.Arg61Gln)
NM_015681.6(B9D1):c.204C>A (p.Phe68Leu) rs1006221533
NM_015681.6(B9D1):c.208A>G (p.Ile70Val)
NM_015681.6(B9D1):c.20G>A (p.Ser7Asn) rs1911256730
NM_015681.6(B9D1):c.226A>C (p.Ser76Arg) rs2152273843
NM_015681.6(B9D1):c.22G>A (p.Val8Ile)
NM_015681.6(B9D1):c.233A>G (p.Asn78Ser)
NM_015681.6(B9D1):c.234C>A (p.Asn78Lys) rs2152273834
NM_015681.6(B9D1):c.234C>G (p.Asn78Lys) rs2152273834
NM_015681.6(B9D1):c.26T>G (p.Phe9Cys)
NM_015681.6(B9D1):c.271G>A (p.Gly91Arg) rs1238280587
NM_015681.6(B9D1):c.285C>A (p.Phe95Leu) rs373478202
NM_015681.6(B9D1):c.285C>G (p.Phe95Leu)
NM_015681.6(B9D1):c.286G>A (p.Gly96Arg)
NM_015681.6(B9D1):c.302G>A (p.Arg101Gln)
NM_015681.6(B9D1):c.342-1_344dup rs2152260983
NM_015681.6(B9D1):c.344A>G (p.His115Arg) rs748742792
NM_015681.6(B9D1):c.358C>G (p.Pro120Ala)
NM_015681.6(B9D1):c.415G>T (p.Gly139Trp)
NM_015681.6(B9D1):c.419G>A (p.Arg140Gln)
NM_015681.6(B9D1):c.431A>G (p.Tyr144Cys) rs1908317419
NM_015681.6(B9D1):c.445G>A (p.Val149Met)
NM_015681.6(B9D1):c.446TGG[1] (p.Val150del) rs1064796686
NM_015681.6(B9D1):c.455A>G (p.Gln152Arg) rs1456979116
NM_015681.6(B9D1):c.478C>A (p.Arg160Ser) rs182767811
NM_015681.6(B9D1):c.493G>C (p.Gly165Arg)
NM_015681.6(B9D1):c.49G>A (p.Val17Met)
NM_015681.6(B9D1):c.505C>G (p.Leu169Val)
NM_015681.6(B9D1):c.505CTC[1] (p.Leu170del)
NM_015681.6(B9D1):c.548A>G (p.Tyr183Cys)
NM_015681.6(B9D1):c.55A>C (p.Ser19Arg)
NM_015681.6(B9D1):c.55A>G (p.Ser19Gly) rs1280021718
NM_015681.6(B9D1):c.602G>A (p.Ser201Asn) rs1310730602
NM_015681.6(B9D1):c.608C>T (p.Pro203Leu)
NM_015681.6(B9D1):c.612G>T (p.Gln204His)
NM_015681.6(B9D1):c.613T>C (p.Ter205Arg) rs201498591
NM_015681.6(B9D1):c.63+6C>A
NM_015681.6(B9D1):c.77A>C (p.Asp26Ala)
NM_015681.6(B9D1):c.83T>C (p.Leu28Pro)
NM_017777.4(MKS1):c.1007T>C (p.Val336Ala) rs772205041
NM_017777.4(MKS1):c.1023T>C (p.Ala341=) rs2143774558
NM_017777.4(MKS1):c.1024C>T (p.His342Tyr) rs1357107885
NM_017777.4(MKS1):c.1036C>T (p.Pro346Ser) rs538164532
NM_017777.4(MKS1):c.1047G>C (p.Gln349His)
NM_017777.4(MKS1):c.1051C>G (p.Leu351Val)
NM_017777.4(MKS1):c.1058G>A (p.Gly353Glu)
NM_017777.4(MKS1):c.1073G>T (p.Cys358Phe)
NM_017777.4(MKS1):c.1078A>G (p.Thr360Ala)
NM_017777.4(MKS1):c.1085C>G (p.Ser362Cys)
NM_017777.4(MKS1):c.1090G>A (p.Ala364Thr)
NM_017777.4(MKS1):c.1094T>C (p.Met365Thr)
NM_017777.4(MKS1):c.1096G>T (p.Asp366Tyr) rs2143753811
NM_017777.4(MKS1):c.10A>G (p.Thr4Ala) rs928775924
NM_017777.4(MKS1):c.1115C>T (p.Ser372Phe) rs1433377596
NM_017777.4(MKS1):c.1121C>G (p.Pro374Arg) rs773157492
NM_017777.4(MKS1):c.1121C>T (p.Pro374Leu) rs773157492
NM_017777.4(MKS1):c.1123T>A (p.Phe375Ile)
NM_017777.4(MKS1):c.1138T>G (p.Phe380Val)
NM_017777.4(MKS1):c.1192T>C (p.Tyr398His) rs1968629952
NM_017777.4(MKS1):c.1196G>C (p.Cys399Ser) rs144764478
NM_017777.4(MKS1):c.1196G>T (p.Cys399Phe) rs144764478
NM_017777.4(MKS1):c.1229A>T (p.Tyr410Phe)
NM_017777.4(MKS1):c.1231C>T (p.Arg411Cys)
NM_017777.4(MKS1):c.1232G>A (p.Arg411His) rs200679238
NM_017777.4(MKS1):c.1232G>C (p.Arg411Pro) rs200679238
NM_017777.4(MKS1):c.1240G>A (p.Gly414Ser) rs1178459205
NM_017777.4(MKS1):c.1244A>G (p.Tyr415Cys)
NM_017777.4(MKS1):c.1261C>G (p.Pro421Ala)
NM_017777.4(MKS1):c.1265C>T (p.Ala422Val)
NM_017777.4(MKS1):c.1267A>G (p.Thr423Ala)
NM_017777.4(MKS1):c.1282A>T (p.Thr428Ser)
NM_017777.4(MKS1):c.128C>G (p.Pro43Arg) rs1311306088
NM_017777.4(MKS1):c.1295C>A (p.Ser432Tyr)
NM_017777.4(MKS1):c.1342T>G (p.Phe448Val)
NM_017777.4(MKS1):c.1354G>A (p.Gly452Ser)
NM_017777.4(MKS1):c.1355G>A (p.Gly452Asp) rs2143743650
NM_017777.4(MKS1):c.1369G>C (p.Glu457Gln) rs1968562983
NM_017777.4(MKS1):c.1382A>G (p.Tyr461Cys) rs730882120
NM_017777.4(MKS1):c.1387C>A (p.Arg463=)
NM_017777.4(MKS1):c.1397G>C (p.Gly466Ala)
NM_017777.4(MKS1):c.1408-28C>G
NM_017777.4(MKS1):c.1414C>G (p.Arg472Gly) rs181513926
NM_017777.4(MKS1):c.1423C>T (p.Arg475Cys)
NM_017777.4(MKS1):c.1424G>T (p.Arg475Leu)
NM_017777.4(MKS1):c.1427T>C (p.Phe476Ser)
NM_017777.4(MKS1):c.1436G>T (p.Arg479Leu)
NM_017777.4(MKS1):c.1450G>T (p.Gly484Cys) rs1473936553
NM_017777.4(MKS1):c.1460C>T (p.Thr487Ile) rs2143737729
NM_017777.4(MKS1):c.1468T>G (p.Leu490Val) rs2143737631
NM_017777.4(MKS1):c.1471C>T (p.His491Tyr)
NM_017777.4(MKS1):c.1478T>C (p.Leu493Pro)
NM_017777.4(MKS1):c.148G>A (p.Asp50Asn)
NM_017777.4(MKS1):c.1505C>G (p.Ser502Trp) rs758838271
NM_017777.4(MKS1):c.1505C>T (p.Ser502Leu) rs758838271
NM_017777.4(MKS1):c.1507A>G (p.Ser503Gly) rs1328968692
NM_017777.4(MKS1):c.1513C>T (p.Leu505Phe) rs1968506619
NM_017777.4(MKS1):c.1531_1534del (p.Ser511fs) rs1555596710
NM_017777.4(MKS1):c.1535T>C (p.Val512Ala) rs1567794194
NM_017777.4(MKS1):c.1538T>C (p.Leu513Ser) rs1968503638
NM_017777.4(MKS1):c.1544G>A (p.Arg515His) rs200658872
NM_017777.4(MKS1):c.1544G>T (p.Arg515Leu) rs200658872
NM_017777.4(MKS1):c.1567A>G (p.Ser523Gly) rs1968502243
NM_017777.4(MKS1):c.1588+3A>G
NM_017777.4(MKS1):c.1598G>A (p.Arg533His) rs779093781
NM_017777.4(MKS1):c.1598G>T (p.Arg533Leu) rs779093781
NM_017777.4(MKS1):c.1610G>A (p.Arg537His) rs771624307
NM_017777.4(MKS1):c.1612C>T (p.Arg538Cys)
NM_017777.4(MKS1):c.1613G>C (p.Arg538Pro)
NM_017777.4(MKS1):c.1613G>T (p.Arg538Leu) rs557678962
NM_017777.4(MKS1):c.1617G>T (p.Met539Ile)
NM_017777.4(MKS1):c.1619del (p.Gln540fs)
NM_017777.4(MKS1):c.1621G>T (p.Glu541Ter) rs1555596538
NM_017777.4(MKS1):c.162G>C (p.Leu54Phe)
NM_017777.4(MKS1):c.1630G>A (p.Glu544Lys)
NM_017777.4(MKS1):c.1635C>A (p.Ser545Arg)
NM_017777.4(MKS1):c.1635C>G (p.Ser545Arg)
NM_017777.4(MKS1):c.191-12T>C
NM_017777.4(MKS1):c.193G>C (p.Gly65Arg)
NM_017777.4(MKS1):c.20G>A (p.Ser7Asn)
NM_017777.4(MKS1):c.216A>C (p.Glu72Asp) rs2143823461
NM_017777.4(MKS1):c.225G>T (p.Glu75Asp) rs775351056
NM_017777.4(MKS1):c.229G>A (p.Val77Met) rs1198645467
NM_017777.4(MKS1):c.23C>G (p.Thr8Ser)
NM_017777.4(MKS1):c.263T>C (p.Phe88Ser) rs886053170
NM_017777.4(MKS1):c.31G>C (p.Gly11Arg) rs762103206
NM_017777.4(MKS1):c.31G>T (p.Gly11Trp)
NM_017777.4(MKS1):c.32G>C (p.Gly11Ala) rs375223375
NM_017777.4(MKS1):c.385A>T (p.Thr129Ser)
NM_017777.4(MKS1):c.38C>A (p.Ala13Glu) rs1969448667
NM_017777.4(MKS1):c.398G>C (p.Arg133Thr) rs2143819004
NM_017777.4(MKS1):c.400T>C (p.Tyr134His) rs1969185710
NM_017777.4(MKS1):c.401A>G (p.Tyr134Cys)
NM_017777.4(MKS1):c.407A>C (p.Asn136Thr) rs1969184476
NM_017777.4(MKS1):c.414G>T (p.Glu138Asp)
NM_017777.4(MKS1):c.418-3C>T
NM_017777.4(MKS1):c.442G>C (p.Ala148Pro) rs1969097203
NM_017777.4(MKS1):c.449A>T (p.Glu150Val)
NM_017777.4(MKS1):c.453_454delinsAA (p.Pro152Thr) rs2143809459
NM_017777.4(MKS1):c.457T>G (p.Ser153Ala) rs2143809333
NM_017777.4(MKS1):c.473G>A (p.Arg158Gln) rs373471917
NM_017777.4(MKS1):c.478G>A (p.Ala160Thr)
NM_017777.4(MKS1):c.47G>A (p.Arg16His) rs1969447926
NM_017777.4(MKS1):c.490C>T (p.Arg164Cys)
NM_017777.4(MKS1):c.493_494insTTC (p.Arg164_Arg165insLeu) rs2143808702
NM_017777.4(MKS1):c.50C>T (p.Ser17Phe)
NM_017777.4(MKS1):c.513G>T (p.Gly171=)
NM_017777.4(MKS1):c.521G>A (p.Gly174Asp) rs2143805491
NM_017777.4(MKS1):c.539G>C (p.Arg180Pro)
NM_017777.4(MKS1):c.53G>A (p.Arg18Gln)
NM_017777.4(MKS1):c.548C>T (p.Thr183Ile) rs775805558
NM_017777.4(MKS1):c.598C>T (p.Pro200Ser) rs1969060676
NM_017777.4(MKS1):c.60C>T (p.Pro20=)
NM_017777.4(MKS1):c.618C>G (p.Ile206Met)
NM_017777.4(MKS1):c.62T>G (p.Val21Gly)
NM_017777.4(MKS1):c.632G>A (p.Gly211Glu)
NM_017777.4(MKS1):c.637T>C (p.Tyr213His) rs780721543
NM_017777.4(MKS1):c.640A>G (p.Lys214Glu)
NM_017777.4(MKS1):c.645-18T>C
NM_017777.4(MKS1):c.645G>C (p.Lys215Asn) rs1969031350
NM_017777.4(MKS1):c.653A>G (p.Tyr218Cys)
NM_017777.4(MKS1):c.668A>G (p.His223Arg)
NM_017777.4(MKS1):c.676T>C (p.Cys226Arg)
NM_017777.4(MKS1):c.68A>C (p.Asn23Thr)
NM_017777.4(MKS1):c.68A>G (p.Asn23Ser)
NM_017777.4(MKS1):c.695G>C (p.Ser232Thr) rs1422512368
NM_017777.4(MKS1):c.704T>C (p.Val235Ala) rs557691735
NM_017777.4(MKS1):c.763G>C (p.Gly255Arg) rs201237547
NM_017777.4(MKS1):c.763G>T (p.Gly255Trp) rs201237547
NM_017777.4(MKS1):c.787T>C (p.Tyr263His) rs1597991801
NM_017777.4(MKS1):c.796G>A (p.Asp266Asn)
NM_017777.4(MKS1):c.80+4G>A
NM_017777.4(MKS1):c.80+6C>T
NM_017777.4(MKS1):c.800A>G (p.Asn267Ser) rs757032985
NM_017777.4(MKS1):c.811C>A (p.His271Asn) rs201771125
NM_017777.4(MKS1):c.811C>G (p.His271Asp) rs201771125
NM_017777.4(MKS1):c.813C>A (p.His271Gln) rs201961765
NM_017777.4(MKS1):c.817C>G (p.Gln273Glu) rs1968968283
NM_017777.4(MKS1):c.826G>A (p.Glu276Lys) rs1968967475
NM_017777.4(MKS1):c.847G>C (p.Val283Leu) rs976973396
NM_017777.4(MKS1):c.852C>G (p.Phe284Leu)
NM_017777.4(MKS1):c.858+4A>C rs1359924062
NM_017777.4(MKS1):c.85C>T (p.His29Tyr) rs1969410240
NM_017777.4(MKS1):c.875A>G (p.Lys292Arg) rs1170460125
NM_017777.4(MKS1):c.892C>T (p.Leu298Phe)
NM_017777.4(MKS1):c.917C>T (p.Thr306Ile) rs1567799806
NM_017777.4(MKS1):c.92A>G (p.Gln31Arg)
NM_017777.4(MKS1):c.931C>T (p.Leu311Phe) rs2143777929
NM_017777.4(MKS1):c.932T>A (p.Leu311His)
NM_017777.4(MKS1):c.934C>T (p.Arg312Trp)
NM_017777.4(MKS1):c.935G>A (p.Arg312Gln)
NM_017777.4(MKS1):c.935G>C (p.Arg312Pro) rs369483945
NM_017777.4(MKS1):c.955G>A (p.Val319Ile) rs1393510784
NM_017777.4(MKS1):c.977A>G (p.Glu326Gly)
NM_017777.4(MKS1):c.998A>G (p.His333Arg) rs2143774851
NM_019892.6(INPP5E):c.1003G>C (p.Val335Leu)
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.1064_1065insTCGTCTGCAGGACAC (p.Thr355_Leu356insArgLeuGlnAspThr) rs1835756153
NM_019892.6(INPP5E):c.107C>T (p.Ala36Val)
NM_019892.6(INPP5E):c.1094C>T (p.Ser365Leu) rs1388522044
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.1123C>T (p.Leu375Phe) rs2131609184
NM_019892.6(INPP5E):c.1138G>A (p.Asp380Asn) rs770456201
NM_019892.6(INPP5E):c.1159+16_1159+33del rs1239490197
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGGGGTGGGCGCGGCTGAAGG rs71269007
NM_019892.6(INPP5E):c.1160-12C>T
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.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.1267T>C (p.Ser423Pro) rs2131608631
NM_019892.6(INPP5E):c.1275C>G (p.Phe425Leu) rs780525765
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.1301A>G (p.Glu434Gly)
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.1333G>A (p.Ala445Thr)
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.1387+5G>C rs2131607798
NM_019892.6(INPP5E):c.139A>G (p.Ser47Gly)
NM_019892.6(INPP5E):c.1433T>G (p.Phe478Cys)
NM_019892.6(INPP5E):c.1441C>A (p.Arg481Ser) rs761179746
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.1478T>C (p.Leu493Pro)
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.1521C>G (p.His507Gln)
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.1547A>G (p.Lys516Arg) rs13294000
NM_019892.6(INPP5E):c.1549+4A>G
NM_019892.6(INPP5E):c.1550-5G>A
NM_019892.6(INPP5E):c.1561A>G (p.Lys521Glu)
NM_019892.6(INPP5E):c.1581C>A (p.Asp527Glu)
NM_019892.6(INPP5E):c.1590C>G (p.Phe530Leu) rs531628363
NM_019892.6(INPP5E):c.161C>G (p.Thr54Ser) rs1234082483
NM_019892.6(INPP5E):c.1633A>G (p.Ser545Gly) rs1835687019
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.1664C>T (p.Thr555Met) rs761578787
NM_019892.6(INPP5E):c.1665+3G>A rs2131605615
NM_019892.6(INPP5E):c.166G>C (p.Ala56Pro) rs987360153
NM_019892.6(INPP5E):c.1672G>A (p.Val558Ile) rs1417022247
NM_019892.6(INPP5E):c.1694A>G (p.Lys565Arg)
NM_019892.6(INPP5E):c.170C>A (p.Thr57Lys)
NM_019892.6(INPP5E):c.1729C>T (p.Pro577Ser) rs1352231723
NM_019892.6(INPP5E):c.1737C>G (p.Ile579Met) rs2131604828
NM_019892.6(INPP5E):c.1775G>A (p.Arg592Gln)
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.1846C>A (p.Leu616Ile) rs1564430711
NM_019892.6(INPP5E):c.1849G>A (p.Gly617Arg) rs1477067987
NM_019892.6(INPP5E):c.220C>G (p.Pro74Ala) rs755881439
NM_019892.6(INPP5E):c.223C>T (p.Pro75Ser) rs2131619729
NM_019892.6(INPP5E):c.236G>C (p.Arg79Pro)
NM_019892.6(INPP5E):c.262G>T (p.Asp88Tyr) rs894770887
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.281G>C (p.Arg94Thr)
NM_019892.6(INPP5E):c.284G>A (p.Arg95His) rs192637923
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.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.361C>T (p.Pro121Ser)
NM_019892.6(INPP5E):c.364G>A (p.Gly122Arg)
NM_019892.6(INPP5E):c.368C>T (p.Ala123Val)
NM_019892.6(INPP5E):c.36G>C (p.Glu12Asp)
NM_019892.6(INPP5E):c.377A>G (p.His126Arg)
NM_019892.6(INPP5E):c.386C>G (p.Ser129Cys) rs745450500
NM_019892.6(INPP5E):c.38C>T (p.Pro13Leu)
NM_019892.6(INPP5E):c.394T>G (p.Cys132Gly)
NM_019892.6(INPP5E):c.431G>A (p.Arg144His)
NM_019892.6(INPP5E):c.44C>T (p.Pro15Leu) rs2131620295
NM_019892.6(INPP5E):c.454G>A (p.Gly152Arg)
NM_019892.6(INPP5E):c.469G>C (p.Gly157Arg)
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.561C>G (p.Ser187Arg)
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.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.61A>T (p.Arg21Trp) rs886042814
NM_019892.6(INPP5E):c.623C>A (p.Thr208Lys) rs143107549
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.683T>G (p.Val228Gly)
NM_019892.6(INPP5E):c.692A>T (p.His231Leu) rs779854628
NM_019892.6(INPP5E):c.698G>C (p.Ser233Thr)
NM_019892.6(INPP5E):c.712C>T (p.Arg238Trp)
NM_019892.6(INPP5E):c.713G>A (p.Arg238Gln) rs760298042
NM_019892.6(INPP5E):c.724C>T (p.Pro242Ser) rs1835897617
NM_019892.6(INPP5E):c.733T>C (p.Cys245Arg)
NM_019892.6(INPP5E):c.746C>G (p.Ser249Cys) rs550485638
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.770T>C (p.Phe257Ser)
NM_019892.6(INPP5E):c.775C>A (p.Leu259Ile)
NM_019892.6(INPP5E):c.808A>G (p.Ser270Gly) rs1564436564
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.815G>T (p.Ser272Ile)
NM_019892.6(INPP5E):c.818A>C (p.Tyr273Ser)
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>T (p.Ala283Ser) rs1310994013
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.916T>G (p.Trp306Gly)
NM_019892.6(INPP5E):c.91C>G (p.Pro31Ala)
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.934_936del (p.Lys312del)
NM_019892.6(INPP5E):c.936+4_936+5dup rs2131611229
NM_019892.6(INPP5E):c.937-3C>T rs1404421521
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.971_972inv (p.Pro324Leu)
NM_019892.6(INPP5E):c.986A>T (p.Tyr329Phe) rs372066816
NM_024809.5(TCTN2):c.100A>C (p.Ile34Leu)
NM_024809.5(TCTN2):c.1043C>T (p.Thr348Ile)
NM_024809.5(TCTN2):c.1045C>G (p.Pro349Ala) rs2135843071
NM_024809.5(TCTN2):c.1060G>C (p.Glu354Gln) rs953263200
NM_024809.5(TCTN2):c.1072G>A (p.Asp358Asn)
NM_024809.5(TCTN2):c.1074C>G (p.Asp358Glu)
NM_024809.5(TCTN2):c.1088T>C (p.Ile363Thr)
NM_024809.5(TCTN2):c.1099+19_1099+20inv
NM_024809.5(TCTN2):c.1099+6del rs2135843158
NM_024809.5(TCTN2):c.1123A>G (p.Thr375Ala) rs1256664879
NM_024809.5(TCTN2):c.1124C>G (p.Thr375Ser)
NM_024809.5(TCTN2):c.112G>T (p.Gly38Cys) rs1955751143
NM_024809.5(TCTN2):c.1135G>T (p.Val379Leu)
NM_024809.5(TCTN2):c.1154A>G (p.Tyr385Cys)
NM_024809.5(TCTN2):c.1165T>C (p.Trp389Arg) rs200080239
NM_024809.5(TCTN2):c.1165T>G (p.Trp389Gly)
NM_024809.5(TCTN2):c.1173_1178del (p.Asn392_Thr393del)
NM_024809.5(TCTN2):c.1190T>A (p.Ile397Lys)
NM_024809.5(TCTN2):c.1208G>A (p.Arg403Lys)
NM_024809.5(TCTN2):c.1264T>A (p.Phe422Ile)
NM_024809.5(TCTN2):c.1286A>T (p.Asn429Ile)
NM_024809.5(TCTN2):c.1288GAA[2] (p.Glu432del)
NM_024809.5(TCTN2):c.1303G>A (p.Gly435Arg)
NM_024809.5(TCTN2):c.1312+3A>G rs1381902683
NM_024809.5(TCTN2):c.1366G>A (p.Val456Ile)
NM_024809.5(TCTN2):c.1377A>C (p.Leu459Phe)
NM_024809.5(TCTN2):c.1379A>C (p.His460Pro)
NM_024809.5(TCTN2):c.1391C>T (p.Ser464Leu) rs991572501
NM_024809.5(TCTN2):c.1394-10_1394-5del rs754718630
NM_024809.5(TCTN2):c.1403G>T (p.Gly468Val) rs1345786491
NM_024809.5(TCTN2):c.1411A>C (p.Thr471Pro) rs2135849648
NM_024809.5(TCTN2):c.1432A>G (p.Ile478Val)
NM_024809.5(TCTN2):c.1447A>C (p.Asn483His)
NM_024809.5(TCTN2):c.148G>A (p.Glu50Lys) rs959524376
NM_024809.5(TCTN2):c.1499A>G (p.Gln500Arg) rs866607617
NM_024809.5(TCTN2):c.1505+3G>A
NM_024809.5(TCTN2):c.1509G>T (p.Glu503Asp)
NM_024809.5(TCTN2):c.1528G>C (p.Asp510His)
NM_024809.5(TCTN2):c.1538T>C (p.Ile513Thr)
NM_024809.5(TCTN2):c.1576T>G (p.Tyr526Asp) rs2135852961
NM_024809.5(TCTN2):c.1579G>A (p.Ala527Thr) rs760206821
NM_024809.5(TCTN2):c.1579G>T (p.Ala527Ser) rs760206821
NM_024809.5(TCTN2):c.157A>G (p.Thr53Ala)
NM_024809.5(TCTN2):c.1655G>A (p.Ser552Asn)
NM_024809.5(TCTN2):c.1685C>T (p.Ala562Val) rs2135859426
NM_024809.5(TCTN2):c.1687C>T (p.His563Tyr)
NM_024809.5(TCTN2):c.1704C>G (p.Ile568Met)
NM_024809.5(TCTN2):c.1705C>G (p.Leu569Val)
NM_024809.5(TCTN2):c.170C>T (p.Ala57Val)
NM_024809.5(TCTN2):c.1726G>C (p.Val576Leu)
NM_024809.5(TCTN2):c.1747G>A (p.Glu583Lys)
NM_024809.5(TCTN2):c.1781T>C (p.Val594Ala)
NM_024809.5(TCTN2):c.1791G>T (p.Gln597His)
NM_024809.5(TCTN2):c.1810T>C (p.Cys604Arg)
NM_024809.5(TCTN2):c.1812T>G (p.Cys604Trp) rs1593871306
NM_024809.5(TCTN2):c.1847C>A (p.Ser616Tyr) rs1436566157
NM_024809.5(TCTN2):c.1882C>T (p.His628Tyr) rs2135862503
NM_024809.5(TCTN2):c.188C>G (p.Ala63Gly)
NM_024809.5(TCTN2):c.1892C>T (p.Thr631Ile)
NM_024809.5(TCTN2):c.1896-16_1896-15insACTTGTAGTTTTTG
NM_024809.5(TCTN2):c.1904T>G (p.Ile635Ser) rs2135862767
NM_024809.5(TCTN2):c.191-3T>C
NM_024809.5(TCTN2):c.1910A>T (p.Tyr637Phe)
NM_024809.5(TCTN2):c.1928A>G (p.Asn643Ser)
NM_024809.5(TCTN2):c.1943_1944del (p.Cys648fs) rs2135862848
NM_024809.5(TCTN2):c.1948C>T (p.Pro650Ser)
NM_024809.5(TCTN2):c.1949C>T (p.Pro650Leu) rs1393954437
NM_024809.5(TCTN2):c.1958T>C (p.Leu653Pro)
NM_024809.5(TCTN2):c.1958_1963del (p.Leu653_Tyr654del) rs377628976
NM_024809.5(TCTN2):c.1987G>C (p.Glu663Gln) rs756940400
NM_024809.5(TCTN2):c.2001G>C (p.Gln667His)
NM_024809.5(TCTN2):c.2005G>A (p.Val669Ile) rs768699111
NM_024809.5(TCTN2):c.200C>G (p.Pro67Arg)
NM_024809.5(TCTN2):c.200C>T (p.Pro67Leu) rs772417842
NM_024809.5(TCTN2):c.2029T>G (p.Leu677Val)
NM_024809.5(TCTN2):c.2047T>G (p.Leu683Val)
NM_024809.5(TCTN2):c.2049G>T (p.Leu683Phe) rs975324103
NM_024809.5(TCTN2):c.206C>T (p.Pro69Leu)
NM_024809.5(TCTN2):c.217G>C (p.Val73Leu) rs1955760079
NM_024809.5(TCTN2):c.225_226delinsTC (p.Asn76His)
NM_024809.5(TCTN2):c.22G>A (p.Ala8Thr)
NM_024809.5(TCTN2):c.233C>G (p.Thr78Arg) rs1015790415
NM_024809.5(TCTN2):c.235G>A (p.Glu79Lys)
NM_024809.5(TCTN2):c.239A>C (p.Asp80Ala)
NM_024809.5(TCTN2):c.25C>T (p.Leu9Phe)
NM_024809.5(TCTN2):c.267G>T (p.Ala89=)
NM_024809.5(TCTN2):c.269A>G (p.Lys90Arg) rs879080073
NM_024809.5(TCTN2):c.275_276insCAC (p.Leu92delinsPheThr)
NM_024809.5(TCTN2):c.317C>G (p.Ser106Cys)
NM_024809.5(TCTN2):c.347C>A (p.Ser116Tyr)
NM_024809.5(TCTN2):c.350C>T (p.Pro117Leu)
NM_024809.5(TCTN2):c.352T>G (p.Cys118Gly) rs2135816491
NM_024809.5(TCTN2):c.374T>G (p.Val125Gly)
NM_024809.5(TCTN2):c.458C>T (p.Ala153Val)
NM_024809.5(TCTN2):c.464-8C>G
NM_024809.5(TCTN2):c.481C>T (p.Pro161Ser)
NM_024809.5(TCTN2):c.485A>G (p.Asn162Ser)
NM_024809.5(TCTN2):c.512G>A (p.Cys171Tyr) rs1247122928
NM_024809.5(TCTN2):c.521A>G (p.Asn174Ser)
NM_024809.5(TCTN2):c.526A>G (p.Thr176Ala)
NM_024809.5(TCTN2):c.529G>A (p.Ala177Thr)
NM_024809.5(TCTN2):c.545T>C (p.Val182Ala)
NM_024809.5(TCTN2):c.547C>T (p.Arg183Cys) rs774520912
NM_024809.5(TCTN2):c.577A>G (p.Asn193Asp)
NM_024809.5(TCTN2):c.580T>G (p.Leu194Val)
NM_024809.5(TCTN2):c.587C>T (p.Thr196Met)
NM_024809.5(TCTN2):c.590T>C (p.Leu197Pro)
NM_024809.5(TCTN2):c.649C>G (p.Gln217Glu)
NM_024809.5(TCTN2):c.671C>T (p.Thr224Met) rs376996387
NM_024809.5(TCTN2):c.673A>T (p.Thr225Ser)
NM_024809.5(TCTN2):c.697C>T (p.Pro233Ser) rs1156772105
NM_024809.5(TCTN2):c.716C>A (p.Ser239Tyr)
NM_024809.5(TCTN2):c.716C>G (p.Ser239Cys) rs149186771
NM_024809.5(TCTN2):c.716C>T (p.Ser239Phe)
NM_024809.5(TCTN2):c.738C>G (p.Phe246Leu)
NM_024809.5(TCTN2):c.758G>T (p.Gly253Val) rs1955979058
NM_024809.5(TCTN2):c.761C>T (p.Ala254Val)
NM_024809.5(TCTN2):c.765-11T>C
NM_024809.5(TCTN2):c.797A>T (p.Tyr266Phe)
NM_024809.5(TCTN2):c.7T>C (p.Phe3Leu)
NM_024809.5(TCTN2):c.802G>T (p.Asp268Tyr)
NM_024809.5(TCTN2):c.806C>G (p.Thr269Ser)
NM_024809.5(TCTN2):c.811G>A (p.Ala271Thr)
NM_024809.5(TCTN2):c.830T>C (p.Phe277Ser) rs1566252816
NM_024809.5(TCTN2):c.848A>T (p.Asp283Val) rs2135836324
NM_024809.5(TCTN2):c.858G>T (p.Met286Ile) rs371804063
NM_024809.5(TCTN2):c.877T>A (p.Phe293Ile) rs201322440
NM_024809.5(TCTN2):c.891+5T>G rs2135836443
NM_024809.5(TCTN2):c.891+6C>T
NM_024809.5(TCTN2):c.892G>A (p.Val298Met)
NM_024809.5(TCTN2):c.902C>T (p.Ala301Val)
NM_024809.5(TCTN2):c.922G>A (p.Ala308Thr)
NM_024809.5(TCTN2):c.92C>G (p.Pro31Arg) rs1009530513
NM_024809.5(TCTN2):c.92C>T (p.Pro31Leu) rs1009530513
NM_024809.5(TCTN2):c.94C>T (p.Pro32Ser) rs2135813593
NM_024809.5(TCTN2):c.961G>A (p.Val321Ile)
NM_024809.5(TCTN2):c.965C>T (p.Thr322Ile) rs2135839958
NM_024809.5(TCTN2):c.97T>C (p.Phe33Leu)
NM_025114.3(CEP290):c.6819-?_*171+?dup
NM_025114.4(CEP290):c.1004G>A (p.Arg335Lys)
NM_025114.4(CEP290):c.100A>C (p.Lys34Gln)
NM_025114.4(CEP290):c.1025A>G (p.Gln342Arg) rs2138022289
NM_025114.4(CEP290):c.1031A>G (p.Asp344Gly)
NM_025114.4(CEP290):c.1052T>C (p.Met351Thr) rs1415965131
NM_025114.4(CEP290):c.1054G>T (p.Ala352Ser)
NM_025114.4(CEP290):c.1067G>A (p.Gly356Asp) rs1403887401
NM_025114.4(CEP290):c.1069A>C (p.Ile357Leu) rs2138003595
NM_025114.4(CEP290):c.1069A>G (p.Ile357Val)
NM_025114.4(CEP290):c.1082A>G (p.Asp361Gly)
NM_025114.4(CEP290):c.1083C>A (p.Asp361Glu)
NM_025114.4(CEP290):c.1103C>T (p.Thr368Ile)
NM_025114.4(CEP290):c.1108C>G (p.Gln370Glu) rs2039663676
NM_025114.4(CEP290):c.1111G>A (p.Val371Ile) rs2138002338
NM_025114.4(CEP290):c.1117C>A (p.Gln373Lys)
NM_025114.4(CEP290):c.1142A>G (p.Asn381Ser) rs1295338042
NM_025114.4(CEP290):c.1166A>T (p.Lys389Ile) rs2138000943
NM_025114.4(CEP290):c.1172A>G (p.Glu391Gly)
NM_025114.4(CEP290):c.1190-8C>G rs764602507
NM_025114.4(CEP290):c.1195T>G (p.Ser399Ala)
NM_025114.4(CEP290):c.1199C>T (p.Thr400Ile) rs773578133
NM_025114.4(CEP290):c.1205C>G (p.Ser402Cys) rs2137920983
NM_025114.4(CEP290):c.1217_1218delinsTC (p.His406Leu) rs2137920625
NM_025114.4(CEP290):c.1229A>G (p.Gln410Arg)
NM_025114.4(CEP290):c.1240G>A (p.Asp414Asn)
NM_025114.4(CEP290):c.1268C>A (p.Ala423Asp)
NM_025114.4(CEP290):c.1280C>T (p.Ala427Val) rs2039369004
NM_025114.4(CEP290):c.1297G>A (p.Asp433Asn)
NM_025114.4(CEP290):c.1306G>A (p.Glu436Lys)
NM_025114.4(CEP290):c.1307A>G (p.Glu436Gly) rs2039366661
NM_025114.4(CEP290):c.1313A>G (p.Asp438Gly) rs2137917175
NM_025114.4(CEP290):c.1325T>A (p.Val442Asp)
NM_025114.4(CEP290):c.1358C>T (p.Ser453Leu) rs772635605
NM_025114.4(CEP290):c.1359+2dup
NM_025114.4(CEP290):c.135A>C (p.Gln45His) rs2138298764
NM_025114.4(CEP290):c.1390G>C (p.Glu464Gln) rs1437841365
NM_025114.4(CEP290):c.13A>T (p.Ile5Leu)
NM_025114.4(CEP290):c.1403G>A (p.Cys468Tyr)
NM_025114.4(CEP290):c.1405A>G (p.Lys469Glu)
NM_025114.4(CEP290):c.1436T>C (p.Ile479Thr)
NM_025114.4(CEP290):c.1471T>A (p.Leu491Met)
NM_025114.4(CEP290):c.147A>G (p.Ile49Met)
NM_025114.4(CEP290):c.1493A>T (p.Asp498Val) rs2039315374
NM_025114.4(CEP290):c.149A>G (p.His50Arg) rs2138298302
NM_025114.4(CEP290):c.1504G>A (p.Ala502Thr) rs1035966537
NM_025114.4(CEP290):c.1508T>G (p.Leu503Arg) rs761301690
NM_025114.4(CEP290):c.151C>T (p.Leu51Phe) rs1264332374
NM_025114.4(CEP290):c.1523G>A (p.Gly508Asp) rs2039227577
NM_025114.4(CEP290):c.1564A>C (p.Asn522His)
NM_025114.4(CEP290):c.1565A>G (p.Asn522Ser) rs751732097
NM_025114.4(CEP290):c.1589A>G (p.Gln530Arg) rs1390141039
NM_025114.4(CEP290):c.1590G>C (p.Gln530His) rs766779533
NM_025114.4(CEP290):c.1596A>C (p.Arg532Ser) rs770310236
NM_025114.4(CEP290):c.1597G>T (p.Ala533Ser)
NM_025114.4(CEP290):c.1600G>A (p.Glu534Lys)
NM_025114.4(CEP290):c.1601A>C (p.Glu534Ala)
NM_025114.4(CEP290):c.1615T>G (p.Leu539Val) rs2137873551
NM_025114.4(CEP290):c.1625T>C (p.Ile542Thr) rs1180698614
NM_025114.4(CEP290):c.1636G>C (p.Glu546Gln) rs373498346
NM_025114.4(CEP290):c.1644A>C (p.Glu548Asp)
NM_025114.4(CEP290):c.1646G>T (p.Arg549Leu)
NM_025114.4(CEP290):c.1648C>T (p.Leu550Phe) rs2039207431
NM_025114.4(CEP290):c.1654C>A (p.Leu552Met)
NM_025114.4(CEP290):c.1664A>T (p.Lys555Ile)
NM_025114.4(CEP290):c.1672C>G (p.Gln558Glu)
NM_025114.4(CEP290):c.1710A>C (p.Ser570=) rs2137866803
NM_025114.4(CEP290):c.1721C>G (p.Thr574Ser)
NM_025114.4(CEP290):c.1741G>A (p.Glu581Lys) rs2039101381
NM_025114.4(CEP290):c.1757G>A (p.Gly586Glu)
NM_025114.4(CEP290):c.1767A>G (p.Ile589Met)
NM_025114.4(CEP290):c.1769G>C (p.Ser590Thr)
NM_025114.4(CEP290):c.1781T>C (p.Leu594Ser) rs371496675
NM_025114.4(CEP290):c.1782G>T (p.Leu594Phe) rs1283118657
NM_025114.4(CEP290):c.180+11A>G rs2138296866
NM_025114.4(CEP290):c.1801A>G (p.Asn601Asp)
NM_025114.4(CEP290):c.1862G>C (p.Arg621Thr)
NM_025114.4(CEP290):c.188C>T (p.Ala63Val) rs769705891
NM_025114.4(CEP290):c.1908A>G (p.Lys636=)
NM_025114.4(CEP290):c.191AAG[1] (p.Glu65del) rs1312256490
NM_025114.4(CEP290):c.1921G>C (p.Val641Leu) rs886049883
NM_025114.4(CEP290):c.1926A>T (p.Glu642Asp)
NM_025114.4(CEP290):c.1970C>A (p.Ala657Glu) rs2038920051
NM_025114.4(CEP290):c.1972A>G (p.Ile658Val) rs2038919900
NM_025114.4(CEP290):c.1982T>G (p.Met661Arg) rs2137781691
NM_025114.4(CEP290):c.1987A>G (p.Lys663Glu)
NM_025114.4(CEP290):c.2033G>T (p.Ser678Ile) rs2038915965
NM_025114.4(CEP290):c.2053G>A (p.Ala685Thr) rs2038714969
NM_025114.4(CEP290):c.2058A>G (p.Ile686Met)
NM_025114.4(CEP290):c.2090C>T (p.Ala697Val) rs200454865
NM_025114.4(CEP290):c.2092A>C (p.Ser698Arg)
NM_025114.4(CEP290):c.2099A>G (p.His700Arg)
NM_025114.4(CEP290):c.2128G>A (p.Gly710Arg)
NM_025114.4(CEP290):c.2132G>C (p.Arg711Thr)
NM_025114.4(CEP290):c.2156T>A (p.Leu719His)
NM_025114.4(CEP290):c.216A>T (p.Glu72Asp)
NM_025114.4(CEP290):c.2173G>A (p.Glu725Lys)
NM_025114.4(CEP290):c.2177C>T (p.Ala726Val) rs1592608053
NM_025114.4(CEP290):c.2179A>G (p.Ile727Val)
NM_025114.4(CEP290):c.2180T>C (p.Ile727Thr) rs2137721924
NM_025114.4(CEP290):c.2186A>T (p.Tyr729Phe)
NM_025114.4(CEP290):c.2191C>A (p.Gln731Lys) rs767250881
NM_025114.4(CEP290):c.2217+3G>A rs765291878
NM_025114.4(CEP290):c.2217+3G>C rs765291878
NM_025114.4(CEP290):c.2217+5G>T
NM_025114.4(CEP290):c.2218A>T (p.Ile740Leu) rs754736974
NM_025114.4(CEP290):c.2227C>T (p.Leu743Phe)
NM_025114.4(CEP290):c.2233A>G (p.Lys745Glu) rs1193394531
NM_025114.4(CEP290):c.2245C>T (p.Leu749Phe) rs2038674474
NM_025114.4(CEP290):c.2252G>A (p.Arg751Gln) rs1360220092
NM_025114.4(CEP290):c.2267_2268inv (p.Ser756Leu)
NM_025114.4(CEP290):c.2276T>G (p.Val759Gly) rs2038671061
NM_025114.4(CEP290):c.2279T>C (p.Phe760Ser) rs1488946278
NM_025114.4(CEP290):c.2296C>A (p.Pro766Thr)
NM_025114.4(CEP290):c.2315C>A (p.Ser772Tyr) rs2137709342
NM_025114.4(CEP290):c.2317A>T (p.Ser773Cys) rs748976722
NM_025114.4(CEP290):c.2321C>G (p.Ala774Gly)
NM_025114.4(CEP290):c.2332_2334del (p.Asn778del) rs2038666741
NM_025114.4(CEP290):c.2365C>A (p.Gln789Lys) rs2137707386
NM_025114.4(CEP290):c.2379_2381del (p.Asn793del) rs2038499476
NM_025114.4(CEP290):c.2427C>G (p.Asn809Lys)
NM_025114.4(CEP290):c.2435T>A (p.Phe812Tyr) rs2038494496
NM_025114.4(CEP290):c.2440G>T (p.Val814Leu) rs955251811
NM_025114.4(CEP290):c.2447G>C (p.Arg816Pro) rs768448895
NM_025114.4(CEP290):c.2447G>T (p.Arg816Leu) rs768448895
NM_025114.4(CEP290):c.2450A>G (p.His817Arg) rs1251392498
NM_025114.4(CEP290):c.2451T>A (p.His817Gln) rs2038492778
NM_025114.4(CEP290):c.2455C>A (p.Gln819Lys) rs2137662565
NM_025114.4(CEP290):c.2459G>A (p.Ser820Asn)
NM_025114.4(CEP290):c.2468A>G (p.Tyr823Cys) rs2137662247
NM_025114.4(CEP290):c.246A>C (p.Lys82Asn)
NM_025114.4(CEP290):c.2482A>T (p.Ser828Cys)
NM_025114.4(CEP290):c.2483+5A>G rs2137661741
NM_025114.4(CEP290):c.249T>C (p.Phe83=)
NM_025114.4(CEP290):c.2515A>G (p.Thr839Ala) rs1227513489
NM_025114.4(CEP290):c.2518A>T (p.Ile840Leu)
NM_025114.4(CEP290):c.2526G>T (p.Glu842Asp)
NM_025114.4(CEP290):c.2536A>G (p.Lys846Glu) rs2137623175
NM_025114.4(CEP290):c.2545G>C (p.Asp849His) rs1565877637
NM_025114.4(CEP290):c.2566A>G (p.Ile856Val)
NM_025114.4(CEP290):c.256C>A (p.Gln86Lys) rs1004064531
NM_025114.4(CEP290):c.2597A>G (p.Asn866Ser)
NM_025114.4(CEP290):c.2600C>T (p.Ala867Val) rs2038321746
NM_025114.4(CEP290):c.2602C>T (p.Leu868Phe)
NM_025114.4(CEP290):c.2608A>G (p.Met870Val)
NM_025114.4(CEP290):c.2618A>T (p.Asp873Val)
NM_025114.4(CEP290):c.2621A>T (p.Glu874Val)
NM_025114.4(CEP290):c.2623A>G (p.Met875Val)
NM_025114.4(CEP290):c.2646TAG[1] (p.Ser883del)
NM_025114.4(CEP290):c.2681A>T (p.Lys894Ile) rs2137616560
NM_025114.4(CEP290):c.2694G>C (p.Arg898Ser) rs2038314186
NM_025114.4(CEP290):c.2704A>T (p.Thr902Ser) rs1353471879
NM_025114.4(CEP290):c.2713G>A (p.Glu905Lys)
NM_025114.4(CEP290):c.2723G>A (p.Arg908Gln)
NM_025114.4(CEP290):c.2728C>T (p.Leu910Phe) rs375348494
NM_025114.4(CEP290):c.2750A>C (p.Gln917Pro)
NM_025114.4(CEP290):c.2776G>C (p.Ala926Pro)
NM_025114.4(CEP290):c.2781A>G (p.Glu927=) rs2137612847
NM_025114.4(CEP290):c.2782G>C (p.Val928Leu)
NM_025114.4(CEP290):c.2785T>A (p.Cys929Ser) rs770836483
NM_025114.4(CEP290):c.2813T>C (p.Phe938Ser)
NM_025114.4(CEP290):c.2817G>A (p.Lys939=)
NM_025114.4(CEP290):c.2821A>G (p.Met941Val) rs2038012227
NM_025114.4(CEP290):c.2864A>G (p.Asn955Ser) rs1443848622
NM_025114.4(CEP290):c.2884C>A (p.Leu962Ile)
NM_025114.4(CEP290):c.2901A>T (p.Lys967Asn)
NM_025114.4(CEP290):c.2911G>A (p.Glu971Lys) rs780805963
NM_025114.4(CEP290):c.291A>T (p.Glu97Asp) rs757402765
NM_025114.4(CEP290):c.2927A>G (p.Tyr976Cys) rs1039332206
NM_025114.4(CEP290):c.2929A>G (p.Arg977Gly) rs765840717
NM_025114.4(CEP290):c.2930G>A (p.Arg977Lys)
NM_025114.4(CEP290):c.2932G>T (p.Asp978Tyr) rs2137541060
NM_025114.4(CEP290):c.2933A>G (p.Asp978Gly) rs758309007
NM_025114.4(CEP290):c.2951A>T (p.Asn984Ile) rs2037998907
NM_025114.4(CEP290):c.2953A>G (p.Met985Val) rs1160930595
NM_025114.4(CEP290):c.2955G>A (p.Met985Ile) rs2037998320
NM_025114.4(CEP290):c.2975A>G (p.Asn992Ser) rs2137539633
NM_025114.4(CEP290):c.2983C>T (p.His995Tyr) rs2137539514
NM_025114.4(CEP290):c.2991+3A>C
NM_025114.4(CEP290):c.2992T>G (p.Cys998Gly) rs2037480137
NM_025114.4(CEP290):c.3013G>C (p.Glu1005Gln) rs2037478393
NM_025114.4(CEP290):c.3014A>G (p.Glu1005Gly)
NM_025114.4(CEP290):c.3019G>A (p.Val1007Met) rs2137425726
NM_025114.4(CEP290):c.3020T>C (p.Val1007Ala) rs898733071
NM_025114.4(CEP290):c.3032A>G (p.Asn1011Ser)
NM_025114.4(CEP290):c.3037G>A (p.Glu1013Lys)
NM_025114.4(CEP290):c.305A>G (p.Gln102Arg)
NM_025114.4(CEP290):c.3070A>G (p.Ile1024Val)
NM_025114.4(CEP290):c.3082T>G (p.Trp1028Gly) rs2037472723
NM_025114.4(CEP290):c.3103G>T (p.Gly1035Cys) rs1195864585
NM_025114.4(CEP290):c.3104-5T>A rs1302558061
NM_025114.4(CEP290):c.3111A>T (p.Glu1037Asp)
NM_025114.4(CEP290):c.3115A>C (p.Ser1039Arg) rs2037241839
NM_025114.4(CEP290):c.3116G>A (p.Ser1039Asn)
NM_025114.4(CEP290):c.3119T>C (p.Met1040Thr) rs2137369505
NM_025114.4(CEP290):c.3121G>A (p.Asp1041Asn)
NM_025114.4(CEP290):c.3130A>G (p.Lys1044Glu)
NM_025114.4(CEP290):c.3132G>T (p.Lys1044Asn) rs762342726
NM_025114.4(CEP290):c.3139A>G (p.Ile1047Val) rs2137368973
NM_025114.4(CEP290):c.3148A>C (p.Ser1050Arg) rs1240996430
NM_025114.4(CEP290):c.3161C>T (p.Ser1054Phe)
NM_025114.4(CEP290):c.3162_3167del (p.Ile1055_Ser1056del) rs760503950
NM_025114.4(CEP290):c.3175A>C (p.Ile1059Leu)
NM_025114.4(CEP290):c.3175A>G (p.Ile1059Val) rs771815959
NM_025114.4(CEP290):c.3181A>G (p.Met1061Val) rs1201486566
NM_025114.4(CEP290):c.3181A>T (p.Met1061Leu)
NM_025114.4(CEP290):c.3198A>T (p.Glu1066Asp)
NM_025114.4(CEP290):c.3214C>T (p.Arg1072Trp)
NM_025114.4(CEP290):c.3215G>A (p.Arg1072Gln) rs1298561837
NM_025114.4(CEP290):c.3235A>C (p.Met1079Leu)
NM_025114.4(CEP290):c.3239A>G (p.Tyr1080Cys) rs902039539
NM_025114.4(CEP290):c.3250C>G (p.Arg1084Gly) rs372918770
NM_025114.4(CEP290):c.3250C>T (p.Arg1084Trp) rs372918770
NM_025114.4(CEP290):c.3251G>A (p.Arg1084Gln)
NM_025114.4(CEP290):c.3253A>G (p.Thr1085Ala)
NM_025114.4(CEP290):c.3278G>C (p.Arg1093Pro) rs1049569883
NM_025114.4(CEP290):c.328A>G (p.Thr110Ala) rs750018041
NM_025114.4(CEP290):c.3291G>A (p.Leu1097=) rs2037221962
NM_025114.4(CEP290):c.3304G>A (p.Ala1102Thr)
NM_025114.4(CEP290):c.3313A>C (p.Thr1105Pro) rs772886007
NM_025114.4(CEP290):c.3338A>C (p.Lys1113Thr) rs780796789
NM_025114.4(CEP290):c.3351G>A (p.Met1117Ile) rs2037147645
NM_025114.4(CEP290):c.3352T>G (p.Leu1118Val)
NM_025114.4(CEP290):c.3359A>G (p.Asp1120Gly)
NM_025114.4(CEP290):c.3375T>A (p.Ser1125Arg)
NM_025114.4(CEP290):c.3380G>A (p.Ser1127Asn) rs757526726
NM_025114.4(CEP290):c.3398C>T (p.Ala1133Val)
NM_025114.4(CEP290):c.3418G>A (p.Glu1140Lys) rs766095901
NM_025114.4(CEP290):c.3418G>C (p.Glu1140Gln)
NM_025114.4(CEP290):c.3431A>G (p.Asn1144Ser) rs2137341520
NM_025114.4(CEP290):c.3432_3434dup (p.Asn1144_Glu1145insAsp) rs2137341409
NM_025114.4(CEP290):c.3448G>A (p.Val1150Ile) rs2137340972
NM_025114.4(CEP290):c.3449T>C (p.Val1150Ala) rs2037141100
NM_025114.4(CEP290):c.345T>A (p.Asn115Lys)
NM_025114.4(CEP290):c.3460A>G (p.Lys1154Glu) rs753136596
NM_025114.4(CEP290):c.3461A>C (p.Lys1154Thr) rs1050202680
NM_025114.4(CEP290):c.3481A>T (p.Ile1161Phe) rs2036979298
NM_025114.4(CEP290):c.3482T>C (p.Ile1161Thr)
NM_025114.4(CEP290):c.3497T>G (p.Val1166Gly)
NM_025114.4(CEP290):c.3499G>C (p.Glu1167Gln)
NM_025114.4(CEP290):c.3512C>G (p.Ala1171Gly) rs1183095802
NM_025114.4(CEP290):c.3514CAA[2] (p.Gln1174del) rs749010290
NM_025114.4(CEP290):c.3517C>A (p.Gln1173Lys)
NM_025114.4(CEP290):c.3533A>G (p.Lys1178Arg) rs2137303115
NM_025114.4(CEP290):c.3539T>C (p.Val1180Ala)
NM_025114.4(CEP290):c.3542A>G (p.Glu1181Gly) rs1402260550
NM_025114.4(CEP290):c.3545C>A (p.Ser1182Tyr)
NM_025114.4(CEP290):c.3553A>G (p.Met1185Val)
NM_025114.4(CEP290):c.3558A>C (p.Gln1186His) rs1189042096
NM_025114.4(CEP290):c.3572A>G (p.Gln1191Arg)
NM_025114.4(CEP290):c.3573+5G>A rs974204266
NM_025114.4(CEP290):c.3605A>G (p.Lys1202Arg) rs375065584
NM_025114.4(CEP290):c.3617A>G (p.His1206Arg)
NM_025114.4(CEP290):c.362A>C (p.Glu121Ala) rs2040372439
NM_025114.4(CEP290):c.362A>G (p.Glu121Gly) rs2040372439
NM_025114.4(CEP290):c.3638G>C (p.Ser1213Thr)
NM_025114.4(CEP290):c.3643G>A (p.Ala1215Thr)
NM_025114.4(CEP290):c.3650C>T (p.Ala1217Val)
NM_025114.4(CEP290):c.3677C>T (p.Ser1226Phe)
NM_025114.4(CEP290):c.3682C>G (p.Leu1228Val) rs1282211647
NM_025114.4(CEP290):c.3693G>T (p.Met1231Ile)
NM_025114.4(CEP290):c.3697G>A (p.Ala1233Thr)
NM_025114.4(CEP290):c.3704A>G (p.Asn1235Ser) rs1344828907
NM_025114.4(CEP290):c.3710G>T (p.Arg1237Leu) rs7307793
NM_025114.4(CEP290):c.3722A>G (p.Lys1241Arg)
NM_025114.4(CEP290):c.3733_3735del (p.Lys1245del) rs2137277006
NM_025114.4(CEP290):c.373G>A (p.Glu125Lys)
NM_025114.4(CEP290):c.3745C>T (p.Leu1249Phe)
NM_025114.4(CEP290):c.376C>A (p.Gln126Lys)
NM_025114.4(CEP290):c.377A>T (p.Gln126Leu) rs748429036
NM_025114.4(CEP290):c.3785A>T (p.His1262Leu)
NM_025114.4(CEP290):c.379A>C (p.Lys127Gln) rs781101346
NM_025114.4(CEP290):c.3815G>A (p.Arg1272Gln)
NM_025114.4(CEP290):c.3817C>A (p.Gln1273Lys)
NM_025114.4(CEP290):c.3818A>G (p.Gln1273Arg)
NM_025114.4(CEP290):c.3823A>G (p.Ser1275Gly)
NM_025114.4(CEP290):c.3829_3830delinsCT (p.Ala1277Leu) rs1565845877
NM_025114.4(CEP290):c.382G>C (p.Asp128His)
NM_025114.4(CEP290):c.382G>T (p.Asp128Tyr) rs755112866
NM_025114.4(CEP290):c.3830C>T (p.Ala1277Val)
NM_025114.4(CEP290):c.3838_3840dup (p.Leu1280_Ala1281insLeu)
NM_025114.4(CEP290):c.385A>G (p.Arg129Gly) rs2138214415
NM_025114.4(CEP290):c.3860C>T (p.Ser1287Phe)
NM_025114.4(CEP290):c.389A>G (p.Glu130Gly)
NM_025114.4(CEP290):c.38T>A (p.Val13Asp)
NM_025114.4(CEP290):c.3920C>A (p.Ser1307Tyr)
NM_025114.4(CEP290):c.3925C>G (p.Gln1309Glu)
NM_025114.4(CEP290):c.3931C>G (p.His1311Asp)
NM_025114.4(CEP290):c.3938A>T (p.Asn1313Ile)
NM_025114.4(CEP290):c.3948C>G (p.Asn1316Lys) rs1361449401
NM_025114.4(CEP290):c.3949A>G (p.Lys1317Glu) rs2137270029
NM_025114.4(CEP290):c.3950A>C (p.Lys1317Thr) rs778137534
NM_025114.4(CEP290):c.3951_3977del (p.Thr1318_Lys1326del)
NM_025114.4(CEP290):c.3980G>T (p.Gly1327Val) rs959651787
NM_025114.4(CEP290):c.4006A>G (p.Lys1336Glu) rs2036809812
NM_025114.4(CEP290):c.4037A>G (p.Asn1346Ser)
NM_025114.4(CEP290):c.4043A>G (p.His1348Arg)
NM_025114.4(CEP290):c.4054GAA[1] (p.Glu1353del) rs2036719008
NM_025114.4(CEP290):c.4088G>T (p.Arg1363Leu)
NM_025114.4(CEP290):c.4097T>G (p.Val1366Gly) rs1270381017
NM_025114.4(CEP290):c.40G>A (p.Asp14Asn) rs769179397
NM_025114.4(CEP290):c.4102G>T (p.Asp1368Tyr) rs184143186
NM_025114.4(CEP290):c.4142A>C (p.Glu1381Ala)
NM_025114.4(CEP290):c.4175A>T (p.Glu1392Val) rs2137248175
NM_025114.4(CEP290):c.4187A>G (p.Gln1396Arg)
NM_025114.4(CEP290):c.4194+5T>G
NM_025114.4(CEP290):c.4215G>A (p.Met1405Ile) rs797045457
NM_025114.4(CEP290):c.4239C>A (p.Asp1413Glu)
NM_025114.4(CEP290):c.4267C>T (p.Arg1423Cys)
NM_025114.4(CEP290):c.4276A>C (p.Asn1426His)
NM_025114.4(CEP290):c.4286T>A (p.Leu1429Gln) rs2137218717
NM_025114.4(CEP290):c.4294G>A (p.Ala1432Thr)
NM_025114.4(CEP290):c.4298A>G (p.Gln1433Arg) rs1157241942
NM_025114.4(CEP290):c.434A>G (p.Asn145Ser)
NM_025114.4(CEP290):c.4358T>C (p.Leu1453Pro)
NM_025114.4(CEP290):c.4366G>A (p.Ala1456Thr) rs375111436
NM_025114.4(CEP290):c.4373G>C (p.Arg1458Thr)
NM_025114.4(CEP290):c.4415C>A (p.Ala1472Glu)
NM_025114.4(CEP290):c.4454A>C (p.Glu1485Ala)
NM_025114.4(CEP290):c.448C>T (p.Leu150Phe)
NM_025114.4(CEP290):c.4496A>T (p.Asp1499Val) rs2036455482
NM_025114.4(CEP290):c.4507A>C (p.Asn1503His)
NM_025114.4(CEP290):c.4517G>C (p.Arg1506Thr) rs1266234548
NM_025114.4(CEP290):c.4547A>G (p.Glu1516Gly) rs367941106
NM_025114.4(CEP290):c.454A>G (p.Asn152Asp)
NM_025114.4(CEP290):c.4555A>G (p.Ile1519Val) rs200817579
NM_025114.4(CEP290):c.4586C>G (p.Pro1529Arg) rs759438587
NM_025114.4(CEP290):c.4600A>C (p.Thr1534Pro) rs2036443574
NM_025114.4(CEP290):c.4604T>C (p.Leu1535Ser) rs2137184439
NM_025114.4(CEP290):c.4614_4615delinsCT (p.His1539Tyr)
NM_025114.4(CEP290):c.4619A>C (p.Gln1540Pro)
NM_025114.4(CEP290):c.4619A>G (p.Gln1540Arg)
NM_025114.4(CEP290):c.4628C>T (p.Ala1543Val) rs2036441054
NM_025114.4(CEP290):c.4638A>T (p.Gln1546His)
NM_025114.4(CEP290):c.463G>A (p.Ala155Thr) rs2138114070
NM_025114.4(CEP290):c.4642A>G (p.Arg1548Gly)
NM_025114.4(CEP290):c.4651C>A (p.Gln1551Lys)
NM_025114.4(CEP290):c.4672A>G (p.Lys1558Glu)
NM_025114.4(CEP290):c.4674G>T (p.Lys1558Asn)
NM_025114.4(CEP290):c.4676A>G (p.Tyr1559Cys)
NM_025114.4(CEP290):c.4682G>A (p.Arg1561His) rs371157150
NM_025114.4(CEP290):c.4682G>C (p.Arg1561Pro)
NM_025114.4(CEP290):c.4693A>G (p.Lys1565Glu)
NM_025114.4(CEP290):c.46G>C (p.Asp16His) rs2040641439
NM_025114.4(CEP290):c.4700G>C (p.Arg1567Thr)
NM_025114.4(CEP290):c.4704+3A>G
NM_025114.4(CEP290):c.4705G>A (p.Glu1569Lys) rs2137170285
NM_025114.4(CEP290):c.4717A>T (p.Ile1573Phe)
NM_025114.4(CEP290):c.4726A>G (p.Lys1576Glu) rs1203769698
NM_025114.4(CEP290):c.4745A>G (p.His1582Arg)
NM_025114.4(CEP290):c.4790A>G (p.Asn1597Ser) rs1352598713
NM_025114.4(CEP290):c.4795T>C (p.Phe1599Leu)
NM_025114.4(CEP290):c.4812G>T (p.Trp1604Cys)
NM_025114.4(CEP290):c.4819A>T (p.Met1607Leu)
NM_025114.4(CEP290):c.4832C>T (p.Pro1611Leu)
NM_025114.4(CEP290):c.4840G>T (p.Val1614Phe)
NM_025114.4(CEP290):c.4844C>G (p.Pro1615Arg)
NM_025114.4(CEP290):c.4877T>C (p.Met1626Thr) rs1413188289
NM_025114.4(CEP290):c.4882C>A (p.Gln1628Lys)
NM_025114.4(CEP290):c.4888G>A (p.Val1630Ile) rs2036315177
NM_025114.4(CEP290):c.4894G>A (p.Glu1632Lys) rs916470951
NM_025114.4(CEP290):c.4910T>C (p.Leu1637Pro)
NM_025114.4(CEP290):c.4923G>T (p.Leu1641Phe)
NM_025114.4(CEP290):c.4931T>A (p.Leu1644Gln) rs763470977
NM_025114.4(CEP290):c.4986A>G (p.Val1662=)
NM_025114.4(CEP290):c.4995T>G (p.Phe1665Leu)
NM_025114.4(CEP290):c.4997A>G (p.Glu1666Gly) rs566018288
NM_025114.4(CEP290):c.5012+5G>A
NM_025114.4(CEP290):c.5013G>C (p.Gln1671His) rs1173154577
NM_025114.4(CEP290):c.5027A>T (p.His1676Leu)
NM_025114.4(CEP290):c.502C>T (p.Arg168Cys) rs760856790
NM_025114.4(CEP290):c.5032G>C (p.Asp1678His)
NM_025114.4(CEP290):c.5033A>T (p.Asp1678Val) rs1174731379
NM_025114.4(CEP290):c.5056G>A (p.Glu1686Lys)
NM_025114.4(CEP290):c.5057A>G (p.Glu1686Gly)
NM_025114.4(CEP290):c.5070A>C (p.Leu1690Phe)
NM_025114.4(CEP290):c.5075A>G (p.Tyr1692Cys) rs1565827486
NM_025114.4(CEP290):c.5083G>T (p.Asp1695Tyr) rs1209477107
NM_025114.4(CEP290):c.5086C>G (p.Gln1696Glu) rs2036106218
NM_025114.4(CEP290):c.5101T>C (p.Ser1701Pro)
NM_025114.4(CEP290):c.5134A>G (p.Lys1712Glu) rs1241267572
NM_025114.4(CEP290):c.5143A>G (p.Asn1715Asp) rs1565827241
NM_025114.4(CEP290):c.5145T>G (p.Asn1715Lys) rs568619750
NM_025114.4(CEP290):c.5158A>G (p.Thr1720Ala) rs1555205391
NM_025114.4(CEP290):c.5159C>G (p.Thr1720Arg)
NM_025114.4(CEP290):c.5203G>A (p.Ala1735Thr) rs2036093152
NM_025114.4(CEP290):c.5204C>T (p.Ala1735Val) rs1311947993
NM_025114.4(CEP290):c.5218_5226del (p.Gln1740_Lys1742del)
NM_025114.4(CEP290):c.5219A>C (p.Gln1740Pro)
NM_025114.4(CEP290):c.5225A>G (p.Lys1742Arg)
NM_025114.4(CEP290):c.5226+5_5226+8del rs1353301232
NM_025114.4(CEP290):c.5228C>T (p.Ala1743Val) rs951910051
NM_025114.4(CEP290):c.5230C>T (p.Leu1744Phe)
NM_025114.4(CEP290):c.5263A>G (p.Met1755Val)
NM_025114.4(CEP290):c.5282A>G (p.Glu1761Gly)
NM_025114.4(CEP290):c.5287A>C (p.Ile1763Leu)
NM_025114.4(CEP290):c.5299A>G (p.Thr1767Ala)
NM_025114.4(CEP290):c.530G>T (p.Cys177Phe)
NM_025114.4(CEP290):c.5324A>G (p.Asn1775Ser) rs527586777
NM_025114.4(CEP290):c.5341G>A (p.Asp1781Asn)
NM_025114.4(CEP290):c.5343T>G (p.Asp1781Glu)
NM_025114.4(CEP290):c.5345G>A (p.Arg1782Gln)
NM_025114.4(CEP290):c.5364+3G>A
NM_025114.4(CEP290):c.5366C>T (p.Thr1789Ile) rs2035901966
NM_025114.4(CEP290):c.5387A>C (p.Glu1796Ala) rs2137060627
NM_025114.4(CEP290):c.5392C>G (p.Leu1798Val)
NM_025114.4(CEP290):c.5428A>G (p.Asn1810Asp) rs1351470304
NM_025114.4(CEP290):c.5432G>A (p.Arg1811Lys)
NM_025114.4(CEP290):c.5468A>G (p.Asn1823Ser)
NM_025114.4(CEP290):c.5483A>G (p.Lys1828Arg)
NM_025114.4(CEP290):c.5507T>C (p.Ile1836Thr)
NM_025114.4(CEP290):c.5527A>G (p.Ile1843Val)
NM_025114.4(CEP290):c.5549T>C (p.Leu1850Pro) rs1176131735
NM_025114.4(CEP290):c.5564_5566del (p.Lys1855del)
NM_025114.4(CEP290):c.5573C>T (p.Thr1858Ile)
NM_025114.4(CEP290):c.5576G>A (p.Ser1859Asn) rs2137056432
NM_025114.4(CEP290):c.5577_5579del (p.Ser1859_Gly1860delinsArg) rs2035881706
NM_025114.4(CEP290):c.5583A>C (p.Leu1861Phe)
NM_025114.4(CEP290):c.5586+8_5586+9insGATTACAGGTAATTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
NM_025114.4(CEP290):c.5599A>G (p.Thr1867Ala)
NM_025114.4(CEP290):c.5605A>C (p.Asn1869His)
NM_025114.4(CEP290):c.560T>C (p.Ile187Thr)
NM_025114.4(CEP290):c.5648A>C (p.Lys1883Thr)
NM_025114.4(CEP290):c.5659C>A (p.Gln1887Lys)
NM_025114.4(CEP290):c.5684T>C (p.Val1895Ala)
NM_025114.4(CEP290):c.5698A>G (p.Met1900Val) rs1415835597
NM_025114.4(CEP290):c.569A>G (p.Gln190Arg) rs2039990572
NM_025114.4(CEP290):c.5733G>T (p.Arg1911Ser) rs1565813077
NM_025114.4(CEP290):c.5777G>A (p.Arg1926Gln) rs778030031
NM_025114.4(CEP290):c.5790A>C (p.Lys1930Asn)
NM_025114.4(CEP290):c.5801G>A (p.Gly1934Glu)
NM_025114.4(CEP290):c.5803G>A (p.Glu1935Lys)
NM_025114.4(CEP290):c.5805A>T (p.Glu1935Asp) rs2136964084
NM_025114.4(CEP290):c.5810T>C (p.Phe1937Ser) rs2035398253
NM_025114.4(CEP290):c.5813C>T (p.Thr1938Ile) rs2035397823
NM_025114.4(CEP290):c.5824C>A (p.Gln1942Lys)
NM_025114.4(CEP290):c.5825A>G (p.Gln1942Arg)
NM_025114.4(CEP290):c.5830A>T (p.Asn1944Tyr) rs1014034003
NM_025114.4(CEP290):c.5852C>G (p.Ala1951Gly) rs2035394009
NM_025114.4(CEP290):c.5873T>C (p.Leu1958Pro) rs2136957996
NM_025114.4(CEP290):c.5899A>G (p.Thr1967Ala)
NM_025114.4(CEP290):c.58C>T (p.Arg20Cys) rs779867970
NM_025114.4(CEP290):c.5911G>C (p.Val1971Leu) rs2035364656
NM_025114.4(CEP290):c.5927G>A (p.Gly1976Glu) rs2136956748
NM_025114.4(CEP290):c.5932C>G (p.Arg1978Gly) rs371525247
NM_025114.4(CEP290):c.5944T>A (p.Ser1982Thr) rs2035360147
NM_025114.4(CEP290):c.5962G>A (p.Glu1988Lys)
NM_025114.4(CEP290):c.5967A>T (p.Leu1989Phe)
NM_025114.4(CEP290):c.5969A>G (p.Lys1990Arg)
NM_025114.4(CEP290):c.5986T>G (p.Leu1996Val)
NM_025114.4(CEP290):c.5995G>C (p.Asp1999His) rs2136955385
NM_025114.4(CEP290):c.5999T>C (p.Ile2000Thr) rs1592782496
NM_025114.4(CEP290):c.6012G>A (p.Arg2004=) rs2136913860
NM_025114.4(CEP290):c.6032G>A (p.Arg2011Gln)
NM_025114.4(CEP290):c.6037T>C (p.Ser2013Pro) rs2136913105
NM_025114.4(CEP290):c.6037T>G (p.Ser2013Ala) rs2136913105
NM_025114.4(CEP290):c.6045AGA[1] (p.Glu2016del) rs1481875615
NM_025114.4(CEP290):c.6062A>C (p.Gln2021Pro)
NM_025114.4(CEP290):c.6065A>G (p.Asn2022Ser) rs1283291449
NM_025114.4(CEP290):c.6067A>G (p.Arg2023Gly)
NM_025114.4(CEP290):c.6083A>G (p.Lys2028Arg)
NM_025114.4(CEP290):c.6105G>C (p.Gln2035His)
NM_025114.4(CEP290):c.6130C>T (p.Pro2044Ser) rs750159998
NM_025114.4(CEP290):c.6134C>T (p.Ser2045Leu)
NM_025114.4(CEP290):c.6135A>G (p.Ser2045=) rs2035114777
NM_025114.4(CEP290):c.6136A>G (p.Ile2046Val)
NM_025114.4(CEP290):c.613C>G (p.Arg205Gly)
NM_025114.4(CEP290):c.614G>A (p.Arg205Gln)
NM_025114.4(CEP290):c.6163T>G (p.Cys2055Gly) rs2136814953
NM_025114.4(CEP290):c.6200A>G (p.Lys2067Arg)
NM_025114.4(CEP290):c.620A>G (p.Gln207Arg) rs2138095264
NM_025114.4(CEP290):c.6218T>C (p.Ile2073Thr) rs2034695558
NM_025114.4(CEP290):c.6223C>G (p.Leu2075Val)
NM_025114.4(CEP290):c.6228A>T (p.Lys2076Asn) rs2136813251
NM_025114.4(CEP290):c.6254A>T (p.Asp2085Val) rs774510171
NM_025114.4(CEP290):c.6269A>G (p.Lys2090Arg)
NM_025114.4(CEP290):c.6297G>T (p.Met2099Ile) rs753507165
NM_025114.4(CEP290):c.6299G>A (p.Cys2100Tyr) rs1274778299
NM_025114.4(CEP290):c.6311A>C (p.Lys2104Thr)
NM_025114.4(CEP290):c.6312_6314del (p.Lys2105del) rs749826807
NM_025114.4(CEP290):c.6347A>G (p.His2116Arg)
NM_025114.4(CEP290):c.6354A>T (p.Arg2118Ser) rs762397066
NM_025114.4(CEP290):c.6358-17_6358-10del
NM_025114.4(CEP290):c.6369T>G (p.Ser2123Arg)
NM_025114.4(CEP290):c.6388C>A (p.Leu2130Met) rs1178627897
NM_025114.4(CEP290):c.6398C>A (p.Thr2133Asn) rs775860198
NM_025114.4(CEP290):c.6421G>A (p.Val2141Ile) rs2136751097
NM_025114.4(CEP290):c.6433C>G (p.Gln2145Glu) rs747203539
NM_025114.4(CEP290):c.6435G>T (p.Gln2145His) rs1308226735
NM_025114.4(CEP290):c.6445G>A (p.Glu2149Lys)
NM_025114.4(CEP290):c.6452T>G (p.Leu2151Trp) rs191613017
NM_025114.4(CEP290):c.6461C>A (p.Ala2154Glu)
NM_025114.4(CEP290):c.6489G>A (p.Met2163Ile) rs1017249180
NM_025114.4(CEP290):c.6497T>C (p.Ile2166Thr)
NM_025114.4(CEP290):c.64GAA[1] (p.Glu23del) rs780211907
NM_025114.4(CEP290):c.6505G>A (p.Glu2169Lys) rs2136748183
NM_025114.4(CEP290):c.6510T>A (p.Asn2170Lys)
NM_025114.4(CEP290):c.6538C>T (p.Leu2180Phe) rs1381853150
NM_025114.4(CEP290):c.653A>G (p.Tyr218Cys)
NM_025114.4(CEP290):c.6541A>G (p.Lys2181Glu)
NM_025114.4(CEP290):c.6548A>C (p.His2183Pro) rs2034340081
NM_025114.4(CEP290):c.6553G>C (p.Gly2185Arg)
NM_025114.4(CEP290):c.6570G>A (p.Met2190Ile) rs1480802620
NM_025114.4(CEP290):c.6572A>G (p.His2191Arg) rs368428115
NM_025114.4(CEP290):c.6592G>T (p.Gly2198Cys)
NM_025114.4(CEP290):c.6595A>T (p.Thr2199Ser)
NM_025114.4(CEP290):c.6644A>T (p.Lys2215Ile)
NM_025114.4(CEP290):c.6645+4T>A
NM_025114.4(CEP290):c.6649A>G (p.Thr2217Ala)
NM_025114.4(CEP290):c.6653A>G (p.Asp2218Gly) rs2136706903
NM_025114.4(CEP290):c.6662A>C (p.Glu2221Ala)
NM_025114.4(CEP290):c.6670C>T (p.Arg2224Trp)
NM_025114.4(CEP290):c.667C>G (p.Gln223Glu) rs2138093804
NM_025114.4(CEP290):c.6684T>G (p.Asn2228Lys)
NM_025114.4(CEP290):c.6686A>G (p.Asn2229Ser) rs2034240934
NM_025114.4(CEP290):c.6734G>A (p.Gly2245Asp) rs766640788
NM_025114.4(CEP290):c.6750T>G (p.Phe2250Leu)
NM_025114.4(CEP290):c.6764G>A (p.Gly2255Asp) rs377561473
NM_025114.4(CEP290):c.6776A>C (p.Glu2259Ala)
NM_025114.4(CEP290):c.6805A>G (p.Ile2269Val)
NM_025114.4(CEP290):c.6817A>G (p.Arg2273Gly)
NM_025114.4(CEP290):c.6823T>G (p.Tyr2275Asp)
NM_025114.4(CEP290):c.6824A>T (p.Tyr2275Phe)
NM_025114.4(CEP290):c.6841G>A (p.Glu2281Lys)
NM_025114.4(CEP290):c.6842A>T (p.Glu2281Val) rs2033943524
NM_025114.4(CEP290):c.6847G>A (p.Glu2283Lys) rs2136656424
NM_025114.4(CEP290):c.6869A>G (p.Asn2290Ser) rs2033940025
NM_025114.4(CEP290):c.6875G>C (p.Ser2292Thr)
NM_025114.4(CEP290):c.6876C>G (p.Ser2292Arg) rs538590274
NM_025114.4(CEP290):c.6892C>G (p.Gln2298Glu)
NM_025114.4(CEP290):c.6893A>G (p.Gln2298Arg) rs1337960015
NM_025114.4(CEP290):c.6895C>T (p.Leu2299Phe)
NM_025114.4(CEP290):c.6917G>A (p.Arg2306Lys) rs1772781673
NM_025114.4(CEP290):c.6919G>A (p.Glu2307Lys)
NM_025114.4(CEP290):c.6922C>A (p.Gln2308Lys)
NM_025114.4(CEP290):c.6929T>A (p.Val2310Asp)
NM_025114.4(CEP290):c.6933C>G (p.Asn2311Lys)
NM_025114.4(CEP290):c.6959A>T (p.Gln2320Leu) rs780375623
NM_025114.4(CEP290):c.6960+5_6960+8del rs2033930168
NM_025114.4(CEP290):c.6970C>T (p.Leu2324Phe) rs1261405954
NM_025114.4(CEP290):c.6976C>A (p.His2326Asn) rs2136637071
NM_025114.4(CEP290):c.6977A>G (p.His2326Arg)
NM_025114.4(CEP290):c.698A>G (p.Glu233Gly) rs2138087140
NM_025114.4(CEP290):c.6991G>T (p.Ala2331Ser)
NM_025114.4(CEP290):c.7007G>A (p.Gly2336Asp) rs863224794
NM_025114.4(CEP290):c.7008C>T (p.Gly2336=) rs2136636238
NM_025114.4(CEP290):c.7016G>T (p.Arg2339Leu)
NM_025114.4(CEP290):c.7021C>A (p.Leu2341Ile)
NM_025114.4(CEP290):c.7055A>T (p.Asp2352Val) rs2033762979
NM_025114.4(CEP290):c.7056T>G (p.Asp2352Glu)
NM_025114.4(CEP290):c.7066G>A (p.Ala2356Thr)
NM_025114.4(CEP290):c.7067C>G (p.Ala2356Gly) rs2136624871
NM_025114.4(CEP290):c.7084A>T (p.Ile2362Leu) rs1364454411
NM_025114.4(CEP290):c.7107T>A (p.Ser2369Arg)
NM_025114.4(CEP290):c.7111G>T (p.Ala2371Ser)
NM_025114.4(CEP290):c.7124T>C (p.Ile2375Thr) rs540340404
NM_025114.4(CEP290):c.713A>C (p.Glu238Ala) rs2138086785
NM_025114.4(CEP290):c.7150A>G (p.Lys2384Glu)
NM_025114.4(CEP290):c.7153A>G (p.Ile2385Val)
NM_025114.4(CEP290):c.7156A>G (p.Lys2386Glu)
NM_025114.4(CEP290):c.7174C>T (p.Leu2392Phe)
NM_025114.4(CEP290):c.7186G>C (p.Asp2396His)
NM_025114.4(CEP290):c.7198C>G (p.Gln2400Glu) rs1478582091
NM_025114.4(CEP290):c.7210-3T>G
NM_025114.4(CEP290):c.7222A>C (p.Lys2408Gln)
NM_025114.4(CEP290):c.7237C>A (p.Leu2413Met) rs2136547632
NM_025114.4(CEP290):c.7243A>G (p.Asn2415Asp)
NM_025114.4(CEP290):c.7256C>T (p.Ser2419Leu) rs2136547201
NM_025114.4(CEP290):c.727T>A (p.Leu243Ile)
NM_025114.4(CEP290):c.7282_7284dup (p.Lys2428_Tyr2429insLys)
NM_025114.4(CEP290):c.7303G>A (p.Val2435Met) rs2136546112
NM_025114.4(CEP290):c.7305GAA[2] (p.Lys2437del) rs768777116
NM_025114.4(CEP290):c.7305GAA[4] (p.Lys2437_Asn2438insLys)
NM_025114.4(CEP290):c.7316T>C (p.Ile2439Thr)
NM_025114.4(CEP290):c.7358_7359delinsAG (p.Gly2453Glu)
NM_025114.4(CEP290):c.7370C>T (p.Thr2457Ile) rs2033234687
NM_025114.4(CEP290):c.7381GCT[1] (p.Ala2462del) rs1345322609
NM_025114.4(CEP290):c.7392_7393insCA (p.Glu2465fs) rs757255407
NM_025114.4(CEP290):c.7393_7395dup (p.Glu2465_Phe2466insGlu)
NM_025114.4(CEP290):c.7394_7397dup (p.Phe2466fs)
NM_025114.4(CEP290):c.7397T>C (p.Phe2466Ser) rs1159836808
NM_025114.4(CEP290):c.7405GAA[2] (p.Glu2471del) rs777398895
NM_025114.4(CEP290):c.7411G>A (p.Glu2471Lys)
NM_025114.4(CEP290):c.7411_7412del (p.Glu2471fs) rs1368325179
NM_025114.4(CEP290):c.7430C>G (p.Pro2477Arg) rs2033224468
NM_025114.4(CEP290):c.74C>T (p.Ala25Val)
NM_025114.4(CEP290):c.753G>T (p.Glu251Asp) rs2039957080
NM_025114.4(CEP290):c.758_760del (p.Met253del) rs2039956756
NM_025114.4(CEP290):c.78T>G (p.Asp26Glu)
NM_025114.4(CEP290):c.790G>T (p.Val264Leu) rs1242440672
NM_025114.4(CEP290):c.794A>G (p.His265Arg) rs902444632
NM_025114.4(CEP290):c.835G>T (p.Asp279Tyr) rs796540607
NM_025114.4(CEP290):c.839A>G (p.His280Arg)
NM_025114.4(CEP290):c.850C>G (p.Gln284Glu)
NM_025114.4(CEP290):c.852A>T (p.Gln284His) rs1592671091
NM_025114.4(CEP290):c.853G>A (p.Val285Met)
NM_025114.4(CEP290):c.854T>G (p.Val285Gly)
NM_025114.4(CEP290):c.871C>A (p.Leu291Ile)
NM_025114.4(CEP290):c.890A>T (p.Glu297Val)
NM_025114.4(CEP290):c.894A>C (p.Glu298Asp)
NM_025114.4(CEP290):c.894A>T (p.Glu298Asp) rs2039900054
NM_025114.4(CEP290):c.895G>A (p.Asp299Asn)
NM_025114.4(CEP290):c.898G>A (p.Asp300Asn)
NM_025114.4(CEP290):c.916G>T (p.Val306Phe) rs558949569
NM_025114.4(CEP290):c.948T>G (p.Ile316Met) rs767967987
NM_025114.4(CEP290):c.961G>A (p.Asp321Asn) rs2138024512
NM_025114.4(CEP290):c.962A>T (p.Asp321Val)
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu) rs774072453
NM_025114.4(CEP290):c.964G>A (p.Asp322Asn) rs536127246
NM_025114.4(CEP290):c.983A>C (p.Gln328Pro)
NM_025114.4(CEP290):c.994C>T (p.His332Tyr)
NM_030578.4(B9D2):c.115G>A (p.Val39Met) rs761158280
NM_030578.4(B9D2):c.131C>T (p.Thr44Met)
NM_030578.4(B9D2):c.157G>T (p.Asp53Tyr) rs746928334
NM_030578.4(B9D2):c.163_164delinsAA (p.Ala55Asn) rs1555756363
NM_030578.4(B9D2):c.223C>G (p.Arg75Gly)
NM_030578.4(B9D2):c.238G>A (p.Val80Met) rs760432560
NM_030578.4(B9D2):c.307C>T (p.Pro103Ser)
NM_030578.4(B9D2):c.484G>A (p.Gly162Ser)
NM_030578.4(B9D2):c.508C>G (p.Arg170Gly) rs371315485
NM_030578.4(B9D2):c.508C>T (p.Arg170Cys)
NM_030578.4(B9D2):c.509G>A (p.Arg170His)
NM_153704.6(TMEM67):c.1030C>T (p.Leu344Phe) rs2130668790
NM_153704.6(TMEM67):c.1048G>A (p.Glu350Lys)
NM_153704.6(TMEM67):c.1050A>C (p.Glu350Asp) rs1813838328
NM_153704.6(TMEM67):c.1065+3A>C
NM_153704.6(TMEM67):c.1066-4_1066-3delinsAT
NM_153704.6(TMEM67):c.1093A>G (p.Asn365Asp)
NM_153704.6(TMEM67):c.1102T>A (p.Tyr368Asn)
NM_153704.6(TMEM67):c.1121A>G (p.Tyr374Cys)
NM_153704.6(TMEM67):c.1131+3A>G
NM_153704.6(TMEM67):c.1132-2_1132-1insAAAA
NM_153704.6(TMEM67):c.1159A>G (p.Ile387Val)
NM_153704.6(TMEM67):c.1160T>G (p.Ile387Ser)
NM_153704.6(TMEM67):c.1195C>T (p.Leu399Phe)
NM_153704.6(TMEM67):c.119CTTTCC[3] (p.Pro42_Phe43dup) rs886063171
NM_153704.6(TMEM67):c.1220A>G (p.His407Arg) rs777641401
NM_153704.6(TMEM67):c.1220A>T (p.His407Leu)
NM_153704.6(TMEM67):c.123C>G (p.Phe41Leu) rs1812503608
NM_153704.6(TMEM67):c.124C>G (p.Pro42Ala)
NM_153704.6(TMEM67):c.1264C>T (p.His422Tyr)
NM_153704.6(TMEM67):c.1271A>C (p.Lys424Thr) rs2130686722
NM_153704.6(TMEM67):c.1287A>G (p.Gln429=)
NM_153704.6(TMEM67):c.1316C>A (p.Thr439Asn)
NM_153704.6(TMEM67):c.1333G>C (p.Val445Leu) rs1174323452
NM_153704.6(TMEM67):c.1338T>G (p.Asp446Glu)
NM_153704.6(TMEM67):c.1376C>A (p.Pro459Gln)
NM_153704.6(TMEM67):c.137C>A (p.Pro46Gln) rs199708882
NM_153704.6(TMEM67):c.137C>T (p.Pro46Leu) rs199708882
NM_153704.6(TMEM67):c.1381G>A (p.Val461Ile) rs1036689562
NM_153704.6(TMEM67):c.13G>T (p.Gly5Cys)
NM_153704.6(TMEM67):c.1433C>T (p.Thr478Ile)
NM_153704.6(TMEM67):c.1447A>G (p.Ile483Val)
NM_153704.6(TMEM67):c.145T>A (p.Cys49Ser)
NM_153704.6(TMEM67):c.1486G>A (p.Asp496Asn)
NM_153704.6(TMEM67):c.148G>A (p.Asp50Asn) rs144253777
NM_153704.6(TMEM67):c.148G>C (p.Asp50His) rs144253777
NM_153704.6(TMEM67):c.148G>T (p.Asp50Tyr)
NM_153704.6(TMEM67):c.150C>A (p.Asp50Glu) rs1486419446
NM_153704.6(TMEM67):c.1519G>T (p.Val507Phe)
NM_153704.6(TMEM67):c.151AAC[1] (p.Asn52del)
NM_153704.6(TMEM67):c.1529C>T (p.Ser510Leu) rs1814362454
NM_153704.6(TMEM67):c.1544T>C (p.Met515Thr) rs1329676384
NM_153704.6(TMEM67):c.1549C>G (p.His517Asp)
NM_153704.6(TMEM67):c.1559C>T (p.Ala520Val) rs2130711278
NM_153704.6(TMEM67):c.1575+6T>G rs2130711420
NM_153704.6(TMEM67):c.157C>G (p.Gln53Glu)
NM_153704.6(TMEM67):c.1580C>T (p.Ala527Val)
NM_153704.6(TMEM67):c.1584G>C (p.Leu528Phe) rs1340120220
NM_153704.6(TMEM67):c.1589T>C (p.Val530Ala)
NM_153704.6(TMEM67):c.158A>G (p.Gln53Arg)
NM_153704.6(TMEM67):c.1594G>T (p.Gly532Cys)
NM_153704.6(TMEM67):c.159G>C (p.Gln53His)
NM_153704.6(TMEM67):c.1628C>T (p.Thr543Ile)
NM_153704.6(TMEM67):c.1652G>A (p.Gly551Glu) rs2130719408
NM_153704.6(TMEM67):c.1661T>C (p.Met554Thr)
NM_153704.6(TMEM67):c.1662G>T (p.Met554Ile) rs184632089
NM_153704.6(TMEM67):c.1674+3A>G rs863225224
NM_153704.6(TMEM67):c.1674+5A>G
NM_153704.6(TMEM67):c.1674+5A>T rs863224813
NM_153704.6(TMEM67):c.1675-6T>C
NM_153704.6(TMEM67):c.167A>G (p.Asp56Gly) rs1812506710
NM_153704.6(TMEM67):c.167A>T (p.Asp56Val)
NM_153704.6(TMEM67):c.1697A>G (p.Tyr566Cys)
NM_153704.6(TMEM67):c.1732A>G (p.Ile578Val) rs2130727646
NM_153704.6(TMEM67):c.1758G>T (p.Trp586Cys) rs1814570287
NM_153704.6(TMEM67):c.1765T>C (p.Phe589Leu)
NM_153704.6(TMEM67):c.1773A>C (p.Lys591Asn) rs2130727915
NM_153704.6(TMEM67):c.1775C>G (p.Ala592Gly)
NM_153704.6(TMEM67):c.1783T>C (p.Ser595Pro)
NM_153704.6(TMEM67):c.1786G>C (p.Val596Leu)
NM_153704.6(TMEM67):c.1786G>T (p.Val596Leu) rs778478057
NM_153704.6(TMEM67):c.1806G>A (p.Met602Ile)
NM_153704.6(TMEM67):c.1825T>C (p.Phe609Leu)
NM_153704.6(TMEM67):c.182C>G (p.Ser61Trp)
NM_153704.6(TMEM67):c.1832C>T (p.Thr611Ile)
NM_153704.6(TMEM67):c.1864C>T (p.Leu622=)
NM_153704.6(TMEM67):c.1893G>C (p.Gln631His)
NM_153704.6(TMEM67):c.1906G>T (p.Val636Leu)
NM_153704.6(TMEM67):c.1913T>A (p.Phe638Tyr) rs2130734310
NM_153704.6(TMEM67):c.1913T>C (p.Phe638Ser)
NM_153704.6(TMEM67):c.1942G>A (p.Val648Ile) rs764882441
NM_153704.6(TMEM67):c.1961-3C>T
NM_153704.6(TMEM67):c.1961-7T>A rs1563472215
NM_153704.6(TMEM67):c.1963G>A (p.Glu655Lys)
NM_153704.6(TMEM67):c.2001A>G (p.Ile667Met)
NM_153704.6(TMEM67):c.2035G>C (p.Glu679Gln)
NM_153704.6(TMEM67):c.2036A>G (p.Glu679Gly)
NM_153704.6(TMEM67):c.2042A>G (p.Gln681Arg)
NM_153704.6(TMEM67):c.2043G>T (p.Gln681His)
NM_153704.6(TMEM67):c.2065C>G (p.Leu689Val) rs576166051
NM_153704.6(TMEM67):c.2089T>C (p.Phe697Leu)
NM_153704.6(TMEM67):c.210G>C (p.Arg70Ser) rs2130523134
NM_153704.6(TMEM67):c.2135C>T (p.Ser712Leu)
NM_153704.6(TMEM67):c.2137TCT[1] (p.Ser715del)
NM_153704.6(TMEM67):c.2145T>G (p.Ser715Arg) rs1814779822
NM_153704.6(TMEM67):c.2146C>A (p.Leu716Ile)
NM_153704.6(TMEM67):c.2159C>A (p.Pro720Gln)
NM_153704.6(TMEM67):c.2165G>C (p.Ser722Thr)
NM_153704.6(TMEM67):c.2166C>G (p.Ser722Arg)
NM_153704.6(TMEM67):c.2167T>C (p.Tyr723His) rs576079013
NM_153704.6(TMEM67):c.217G>A (p.Ala73Thr)
NM_153704.6(TMEM67):c.2180A>G (p.Tyr727Cys)
NM_153704.6(TMEM67):c.223G>A (p.Gly75Arg)
NM_153704.6(TMEM67):c.224-2dup
NM_153704.6(TMEM67):c.2245G>A (p.Val749Met) rs753896569
NM_153704.6(TMEM67):c.2263T>C (p.Tyr755His) rs2130757495
NM_153704.6(TMEM67):c.2287A>G (p.Ile763Val)
NM_153704.6(TMEM67):c.2298C>G (p.Phe766Leu) rs372104198
NM_153704.6(TMEM67):c.2322+4A>C rs1386323468
NM_153704.6(TMEM67):c.2323-5_2323-4insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCGGAGAGGGAGCGGGCGCCCGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGACCTATTCTCTTTTT rs2130763431
NM_153704.6(TMEM67):c.2325A>G (p.Ile775Met) rs777320782
NM_153704.6(TMEM67):c.2336T>G (p.Leu779Arg) rs2130763583
NM_153704.6(TMEM67):c.2341T>C (p.Ser781Pro)
NM_153704.6(TMEM67):c.2347A>G (p.Lys783Glu)
NM_153704.6(TMEM67):c.2348A>G (p.Lys783Arg)
NM_153704.6(TMEM67):c.2350T>G (p.Cys784Gly) rs2130763694
NM_153704.6(TMEM67):c.2351G>A (p.Cys784Tyr) rs1328212583
NM_153704.6(TMEM67):c.2385T>A (p.His795Gln)
NM_153704.6(TMEM67):c.2407G>A (p.Glu803Lys)
NM_153704.6(TMEM67):c.2425C>G (p.Leu809Val)
NM_153704.6(TMEM67):c.2440-5T>C rs2130780220
NM_153704.6(TMEM67):c.2450G>A (p.Cys817Tyr) rs2130780313
NM_153704.6(TMEM67):c.2515A>C (p.Met839Leu) rs1041608878
NM_153704.6(TMEM67):c.2576T>A (p.Leu859Gln)
NM_153704.6(TMEM67):c.2600T>C (p.Phe867Ser) rs1563481582
NM_153704.6(TMEM67):c.2627T>C (p.Met876Thr) rs528989414
NM_153704.6(TMEM67):c.2635A>G (p.Lys879Glu)
NM_153704.6(TMEM67):c.2654T>C (p.Ile885Thr) rs1563481671
NM_153704.6(TMEM67):c.2659C>A (p.His887Asn)
NM_153704.6(TMEM67):c.2660A>G (p.His887Arg)
NM_153704.6(TMEM67):c.2661+3A>G rs568703831
NM_153704.6(TMEM67):c.2662G>T (p.Val888Phe) rs1586091861
NM_153704.6(TMEM67):c.2680T>A (p.Tyr894Asn) rs1170985091
NM_153704.6(TMEM67):c.2685T>A (p.Phe895Leu) rs1808622944
NM_153704.6(TMEM67):c.2701CTT[1] (p.Leu902del) rs2130783329
NM_153704.6(TMEM67):c.2716C>T (p.Leu906Phe) rs200477047
NM_153704.6(TMEM67):c.2725G>C (p.Glu909Gln) rs878855230
NM_153704.6(TMEM67):c.2737C>A (p.Pro913Thr) rs1254095209
NM_153704.6(TMEM67):c.2744A>T (p.Glu915Val) rs1450784678
NM_153704.6(TMEM67):c.2769A>T (p.Glu923Asp)
NM_153704.6(TMEM67):c.2771G>A (p.Gly924Asp)
NM_153704.6(TMEM67):c.2774A>T (p.Tyr925Phe) rs376103225
NM_153704.6(TMEM67):c.2776T>C (p.Ser926Pro) rs763360678
NM_153704.6(TMEM67):c.2777C>A (p.Ser926Tyr) rs1808863667
NM_153704.6(TMEM67):c.2787T>G (p.Ser929Arg) rs1197717166
NM_153704.6(TMEM67):c.2827G>T (p.Asp943Tyr) rs2130799791
NM_153704.6(TMEM67):c.283A>G (p.Ile95Val) rs758638902
NM_153704.6(TMEM67):c.2858C>T (p.Ala953Val)
NM_153704.6(TMEM67):c.2861G>C (p.Cys954Ser) rs537935631
NM_153704.6(TMEM67):c.288T>G (p.Ile96Met) rs1812547985
NM_153704.6(TMEM67):c.2918A>G (p.Tyr973Cys)
NM_153704.6(TMEM67):c.2924G>T (p.Arg975Leu) rs191759530
NM_153704.6(TMEM67):c.2933T>C (p.Val978Ala)
NM_153704.6(TMEM67):c.2942A>G (p.Lys981Arg) rs2130802666
NM_153704.6(TMEM67):c.2950G>A (p.Ala984Thr)
NM_153704.6(TMEM67):c.2981_2982insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATCAAAGATTTTT (p.Leu994delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTer) rs2130802792
NM_153704.6(TMEM67):c.2982G>T (p.Leu994Phe)
NM_153704.6(TMEM67):c.308A>G (p.Asn103Ser) rs1289474043
NM_153704.6(TMEM67):c.312+3G>A rs1404637051
NM_153704.6(TMEM67):c.317G>A (p.Gly106Asp) rs1812680811
NM_153704.6(TMEM67):c.319G>A (p.Val107Ile)
NM_153704.6(TMEM67):c.32T>A (p.Met11Lys) rs544982647
NM_153704.6(TMEM67):c.355A>G (p.Ser119Gly)
NM_153704.6(TMEM67):c.361T>G (p.Leu121Val) rs934823566
NM_153704.6(TMEM67):c.376A>C (p.Lys126Gln) rs2130545126
NM_153704.6(TMEM67):c.392T>C (p.Ile131Thr) rs2130545286
NM_153704.6(TMEM67):c.401T>C (p.Ile134Thr)
NM_153704.6(TMEM67):c.406+4A>G
NM_153704.6(TMEM67):c.407-8C>G rs778605297
NM_153704.6(TMEM67):c.407T>C (p.Val136Ala) rs2130576247
NM_153704.6(TMEM67):c.429_431del (p.Leu145del)
NM_153704.6(TMEM67):c.443C>A (p.Ala148Glu) rs1563679408
NM_153704.6(TMEM67):c.454C>T (p.Leu152Phe) rs1563679425
NM_153704.6(TMEM67):c.463G>A (p.Gly155Arg)
NM_153704.6(TMEM67):c.476C>T (p.Ser159Phe)
NM_153704.6(TMEM67):c.485T>C (p.Val162Ala)
NM_153704.6(TMEM67):c.497T>C (p.Leu166Ser) rs1812963679
NM_153704.6(TMEM67):c.499G>A (p.Gly167Arg) rs2130576945
NM_153704.6(TMEM67):c.506+5G>A
NM_153704.6(TMEM67):c.531T>G (p.Phe177Leu) rs1813038272
NM_153704.6(TMEM67):c.55G>T (p.Ala19Ser) rs1300371747
NM_153704.6(TMEM67):c.565C>T (p.Pro189Ser)
NM_153704.6(TMEM67):c.56C>A (p.Ala19Asp)
NM_153704.6(TMEM67):c.588A>T (p.Leu196Phe)
NM_153704.6(TMEM67):c.619C>T (p.Arg207Cys)
NM_153704.6(TMEM67):c.651+8T>C
NM_153704.6(TMEM67):c.675G>C (p.Trp225Cys)
NM_153704.6(TMEM67):c.679G>A (p.Ala227Thr) rs767886819
NM_153704.6(TMEM67):c.67A>G (p.Thr23Ala) rs2130521457
NM_153704.6(TMEM67):c.67A>T (p.Thr23Ser)
NM_153704.6(TMEM67):c.692A>G (p.Gln231Arg) rs143495661
NM_153704.6(TMEM67):c.695C>T (p.Ser232Leu) rs2130622470
NM_153704.6(TMEM67):c.714+4A>G
NM_153704.6(TMEM67):c.71C>T (p.Ala24Val)
NM_153704.6(TMEM67):c.722C>T (p.Ala241Val) rs115766095
NM_153704.6(TMEM67):c.731C>T (p.Thr244Ile) rs1405448469
NM_153704.6(TMEM67):c.756G>C (p.Met252Ile) rs2130662628
NM_153704.6(TMEM67):c.757T>G (p.Cys253Gly)
NM_153704.6(TMEM67):c.793T>G (p.Phe265Val)
NM_153704.6(TMEM67):c.796G>C (p.Asp266His)
NM_153704.6(TMEM67):c.816G>C (p.Gln272His)
NM_153704.6(TMEM67):c.820A>C (p.Ile274Leu) rs748922044
NM_153704.6(TMEM67):c.848C>T (p.Thr283Ile) rs747533371
NM_153704.6(TMEM67):c.854A>T (p.His285Leu)
NM_153704.6(TMEM67):c.859A>G (p.Ile287Val)
NM_153704.6(TMEM67):c.869+3A>T rs1813784101
NM_153704.6(TMEM67):c.905A>G (p.Gln302Arg) rs2130664380
NM_153704.6(TMEM67):c.92C>T (p.Pro31Leu)
NM_153704.6(TMEM67):c.937A>G (p.Thr313Ala)
NM_153704.6(TMEM67):c.949A>T (p.Thr317Ser)
NM_153704.6(TMEM67):c.94C>A (p.Arg32Ser)
NM_153704.6(TMEM67):c.952A>G (p.Asn318Asp)
NM_153704.6(TMEM67):c.970G>A (p.Glu324Lys)
NM_153704.6(TMEM67):c.978+3A>G rs775256658
NM_153704.6(TMEM67):c.982A>T (p.Thr328Ser) rs2130668443
NM_153704.6(TMEM67):c.995T>G (p.Phe332Cys) rs2130668557

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