ClinVar Miner

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

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1831
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HGVS dbSNP gnomAD frequency
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00342
NM_001378615.1(CC2D2A):c.1762C>T (p.Gln588Ter) rs116358011 0.00057
NM_001329943.3(KIAA0586):c.94dup (p.His32fs) rs555421894 0.00056
NM_001077418.3(TMEM231):c.139+47C>A rs200063331 0.00029
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00028
NM_019892.6(INPP5E):c.875G>A (p.Arg292His) rs199873582 0.00026
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) rs137853108 0.00026
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter) rs386834153 0.00013
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter) rs777668842 0.00012
NM_015631.6(TCTN3):c.2T>G (p.Met1Arg) rs373479905 0.00011
NM_015681.6(B9D1):c.151T>C (p.Ser51Pro) rs546359789 0.00011
NM_153704.6(TMEM67):c.224-2del rs386834190 0.00010
NM_001329943.3(KIAA0586):c.1254-1G>C rs757350052 0.00009
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399 0.00009
NM_015681.6(B9D1):c.341+2T>C rs143149764 0.00009
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119 0.00009
NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala) rs1442638461 0.00008
NM_001378615.1(CC2D2A):c.1017+1G>A rs200407856 0.00008
NM_014704.4(CEP104):c.1003C>T (p.Gln335Ter) rs144744629 0.00008
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00008
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409 0.00007
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707 0.00006
NM_001378615.1(CC2D2A):c.3347C>T (p.Thr1116Met) rs267606709 0.00006
NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter) rs377177061 0.00006
NM_019892.6(INPP5E):c.1861C>T (p.Arg621Trp) rs142759730 0.00006
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter) rs62638179 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs) rs386834202 0.00006
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr) rs202149403 0.00006
NM_001077418.3(TMEM231):c.664+4A>G rs760426025 0.00005
NM_001082538.3(TCTN1):c.822+1G>A rs374065616 0.00005
NM_001134831.2(AHI1):c.2623+1G>A rs751823180 0.00005
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter) rs777215595 0.00005
NM_001329943.3(KIAA0586):c.3793dup (p.Ile1265fs) rs764118184 0.00005
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) rs121918203 0.00005
NM_019892.6(INPP5E):c.1754G>A (p.Arg585His) rs752300607 0.00005
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) rs386834152 0.00005
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn) rs200799769 0.00004
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile) rs397514753 0.00004
NM_001134831.2(AHI1):c.1166C>G (p.Ser389Ter) rs761388040 0.00004
NM_001134831.2(AHI1):c.1997A>T (p.Asp666Val) rs863225147 0.00004
NM_001134831.2(AHI1):c.2012C>T (p.Thr671Ile) rs772989270 0.00004
NM_001378615.1(CC2D2A):c.2803C>T (p.Arg935Ter) rs563610095 0.00004
NM_001382391.1(CSPP1):c.132dup (p.Lys45Ter) rs770296270 0.00004
NM_001382391.1(CSPP1):c.2335C>T (p.Arg779Ter) rs587777138 0.00004
NM_001382391.1(CSPP1):c.631C>T (p.Arg211Ter) rs375113643 0.00004
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro) rs121918198 0.00004
NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter) rs121918197 0.00004
NM_015631.6(TCTN3):c.1327C>T (p.Gln443Ter) rs387907273 0.00004
NM_015631.6(TCTN3):c.1520dup (p.Gly508fs) rs755903123 0.00004
NM_019892.6(INPP5E):c.1456C>T (p.Arg486Cys) rs75939033 0.00004
NM_019892.6(INPP5E):c.1577C>T (p.Pro526Leu) rs746867724 0.00004
NM_025114.4(CEP290):c.4438-3del rs747323414 0.00004
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln) rs386834182 0.00004
NM_153704.6(TMEM67):c.1975C>T (p.Arg659Ter) rs150332116 0.00004
NM_001044385.3(TMEM237):c.901C>T (p.Arg301Ter) rs775449384 0.00003
NM_001077416.2(TMEM231):c.74T>A (p.Met25Lys) rs397514609 0.00003
NM_001077418.3(TMEM231):c.438+1G>A rs1415483600 0.00003
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter) rs372659908 0.00003
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter) rs755459875 0.00003
NM_001329943.3(KIAA0586):c.2536del (p.Val846fs) rs1307758243 0.00003
NM_001329943.3(KIAA0586):c.4208_4209del (p.Met1403fs) rs1432780165 0.00003
NM_001329943.3(KIAA0586):c.831C>T (p.Leu277=) rs780520735 0.00003
NM_001378615.1(CC2D2A):c.3341C>T (p.Thr1114Met) rs386833752 0.00003
NM_015272.5(RPGRIP1L):c.2200C>T (p.Arg734Ter) rs751128300 0.00003
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter) rs1277577195 0.00003
NM_015631.6(TCTN3):c.1068dup (p.Gln357fs) rs2492748621 0.00003
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp) rs137853105 0.00003
NM_017777.4(MKS1):c.1600C>T (p.Arg534Ter) rs772719574 0.00003
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln) rs121918129 0.00003
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter) rs776645403 0.00003
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter) rs886042153 0.00003
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter) rs772170760 0.00003
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter) rs370119681 0.00003
NM_025114.4(CEP290):c.7048C>T (p.Gln2350Ter) rs375548374 0.00003
NM_025114.4(CEP290):c.7073_7077dup (p.His2360Ter) rs1294402003 0.00003
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180 0.00003
NM_153704.6(TMEM67):c.1645C>T (p.Arg549Cys) rs747025617 0.00003
NM_153704.6(TMEM67):c.651+2T>G rs199821258 0.00003
NM_001044385.3(TMEM237):c.553+1G>A rs80034299 0.00002
NM_001044385.3(TMEM237):c.725G>A (p.Trp242Ter) rs776665329 0.00002
NM_001044385.3(TMEM237):c.943+1G>T rs748510210 0.00002
NM_001077418.3(TMEM231):c.124G>A (p.Ala42Thr) rs1197109885 0.00002
NM_001077418.3(TMEM231):c.284del (p.Asp95fs) rs750897443 0.00002
NM_001134831.2(AHI1):c.2247dup (p.Leu750fs) rs1445681647 0.00002
NM_001134831.2(AHI1):c.3235C>T (p.Arg1079Ter) rs761732432 0.00002
NM_001134831.2(AHI1):c.3364C>T (p.Arg1122Ter) rs1487081231 0.00002
NM_001134831.2(AHI1):c.533_534del (p.Glu178fs) rs759593846 0.00002
NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter) rs863225138 0.00002
NM_001329943.3(KIAA0586):c.12dup (p.Glu5Ter) rs778986624 0.00002
NM_001329943.3(KIAA0586):c.2353C>T (p.Arg785Ter) rs1064793157 0.00002
NM_001329943.3(KIAA0586):c.3144G>A (p.Pro1048=) rs540255320 0.00002
NM_001329943.3(KIAA0586):c.3580C>T (p.Gln1194Ter) rs373763986 0.00002
NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs) rs770566897 0.00002
NM_001378615.1(CC2D2A):c.100C>T (p.Arg34Ter) rs896947430 0.00002
NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val) rs773881370 0.00002
NM_001378615.1(CC2D2A):c.3544T>C (p.Trp1182Arg) rs386833755 0.00002
NM_001378615.1(CC2D2A):c.3850C>T (p.Arg1284Cys) rs779823379 0.00002
NM_001382391.1(CSPP1):c.1976-2A>G rs1320076769 0.00002
NM_001382391.1(CSPP1):c.430_431del (p.Arg144fs) rs750696284 0.00002
NM_015272.5(RPGRIP1L):c.1329dup (p.Arg444fs) rs749987648 0.00002
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) rs121918204 0.00002
NM_015272.5(RPGRIP1L):c.2230C>T (p.Arg744Ter) rs267604575 0.00002
NM_015272.5(RPGRIP1L):c.2794_2795del (p.Leu932fs) rs778824093 0.00002
NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter) rs778533826 0.00002
NM_015631.6(TCTN3):c.3G>A (p.Met1Ile) rs745688122 0.00002
NM_017777.4(MKS1):c.1024+1G>A rs199874059 0.00002
NM_017777.4(MKS1):c.367C>T (p.Arg123Ter) rs762482919 0.00002
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter) rs756853299 0.00002
NM_017777.4(MKS1):c.515+2T>C rs1376664664 0.00002
NM_017777.4(MKS1):c.79C>T (p.Arg27Ter) rs1161451203 0.00002
NM_017777.4(MKS1):c.958G>A (p.Val320Ile) rs386834053 0.00002
NM_019892.6(INPP5E):c.1064C>T (p.Thr355Met) rs863225198 0.00002
NM_019892.6(INPP5E):c.1133G>A (p.Arg378His) rs758951947 0.00002
NM_019892.6(INPP5E):c.1402C>T (p.Arg468Cys) rs375909217 0.00002
NM_019892.6(INPP5E):c.1747G>A (p.Asp583Asn) rs756888841 0.00002
NM_019892.6(INPP5E):c.1753C>T (p.Arg585Cys) rs763992407 0.00002
NM_019892.6(INPP5E):c.1760del (p.Val587fs) rs775518991 0.00002
NM_019892.6(INPP5E):c.907G>A (p.Val303Met) rs746212325 0.00002
NM_019892.6(INPP5E):c.944C>T (p.Pro315Leu) rs754637179 0.00002
NM_024809.5(TCTN2):c.1336C>T (p.Arg446Ter) rs757485757 0.00002
NM_024809.5(TCTN2):c.652_659dup (p.Ala221fs) rs915737037 0.00002
NM_024809.5(TCTN2):c.703del (p.Leu235fs) rs760830696 0.00002
NM_025114.4(CEP290):c.1066-1G>A rs965522059 0.00002
NM_025114.4(CEP290):c.1623+1G>A rs863225186 0.00002
NM_025114.4(CEP290):c.223A>G (p.Lys75Glu) rs779010679 0.00002
NM_025114.4(CEP290):c.2249T>G (p.Leu750Ter) rs137852833 0.00002
NM_025114.4(CEP290):c.3123dup (p.Lys1042Ter) rs1555212271 0.00002
NM_025114.4(CEP290):c.3708dup (p.Arg1237fs) rs758991387 0.00002
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286 0.00002
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750 0.00002
NM_025114.4(CEP290):c.6012-12T>A rs752197734 0.00002
NM_025114.4(CEP290):c.6277del (p.Val2093fs) rs771454167 0.00002
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter) rs760540562 0.00002
NM_025114.4(CEP290):c.7282_7283dup (p.Tyr2429fs) rs767231715 0.00002
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727 0.00002
NM_153704.6(TMEM67):c.2132A>C (p.Asp711Ala) rs781383498 0.00002
NM_153704.6(TMEM67):c.2521C>T (p.Gln841Ter) rs371452453 0.00002
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter) rs765468645 0.00002
NM_153704.6(TMEM67):c.748G>A (p.Gly250Arg) rs587779736 0.00002
NM_001044385.3(TMEM237):c.278T>A (p.Leu93Ter) rs1687223389 0.00001
NM_001044385.3(TMEM237):c.325C>T (p.Arg109Ter) rs565778005 0.00001
NM_001044385.3(TMEM237):c.677+1G>A rs793888505 0.00001
NM_001077418.3(TMEM231):c.574C>T (p.Arg192Ter) rs543122080 0.00001
NM_001077418.3(TMEM231):c.582+1G>A rs752141701 0.00001
NM_001082538.3(TCTN1):c.736A>T (p.Lys246Ter) rs748215804 0.00001
NM_001082538.3(TCTN1):c.898C>T (p.Arg300Ter) rs751962801 0.00001
NM_001134831.2(AHI1):c.1152-2A>G rs753085250 0.00001
NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter) rs863225143 0.00001
NM_001134831.2(AHI1):c.1312dup (p.Asp438fs) rs748438350 0.00001
NM_001134831.2(AHI1):c.1484G>A (p.Arg495His) rs387907003 0.00001
NM_001134831.2(AHI1):c.1497_1498del (p.Tyr499_Tyr500delinsTer) rs905262279 0.00001
NM_001134831.2(AHI1):c.1526T>A (p.Leu509Ter) rs41288021 0.00001
NM_001134831.2(AHI1):c.1580C>T (p.Pro527Leu) rs750264231 0.00001
NM_001134831.2(AHI1):c.1626+1G>A rs863225137 0.00001
NM_001134831.2(AHI1):c.1660C>T (p.Gln554Ter) rs933648254 0.00001
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter) rs267606641 0.00001
NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter) rs751734985 0.00001
NM_001134831.2(AHI1):c.1889del (p.Ser630fs) rs1786487832 0.00001
NM_001134831.2(AHI1):c.1976A>T (p.Asp659Val) rs541041911 0.00001
NM_001134831.2(AHI1):c.1981T>C (p.Ser661Pro) rs1785745572 0.00001
NM_001134831.2(AHI1):c.2042G>A (p.Trp681Ter) rs1236041314 0.00001
NM_001134831.2(AHI1):c.2105C>T (p.Thr702Met) rs756276537 0.00001
NM_001134831.2(AHI1):c.2106G>A (p.Thr702=) rs1276908141 0.00001
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013 0.00001
NM_001134831.2(AHI1):c.2246C>G (p.Ser749Ter) rs766069291 0.00001
NM_001134831.2(AHI1):c.2388dup (p.Glu797Ter) rs1784418088 0.00001
NM_001134831.2(AHI1):c.2492+1G>A rs187245292 0.00001
NM_001134831.2(AHI1):c.2687A>G (p.His896Arg) rs863225135 0.00001
NM_001134831.2(AHI1):c.3138_3141dup (p.His1048Ter) rs759523949 0.00001
NM_001134831.2(AHI1):c.3289C>T (p.Gln1097Ter) rs1457793607 0.00001
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter) rs201391050 0.00001
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys) rs779526456 0.00001
NM_001173990.3(TMEM216):c.328C>T (p.Gln110Ter) rs968023665 0.00001
NM_001173990.3(TMEM216):c.87G>A (p.Trp29Ter) rs1304320833 0.00001
NM_001174150.2(ARL13B):c.223G>A (p.Gly75Arg) rs1378981995 0.00001
NM_001174150.2(ARL13B):c.554G>A (p.Trp185Ter) rs760756412 0.00001
NM_001174150.2(ARL13B):c.709C>T (p.Gln237Ter) rs138982484 0.00001
NM_001174150.2(ARL13B):c.772C>T (p.Gln258Ter) rs1362774896 0.00001
NM_001329943.3(KIAA0586):c.1654C>T (p.Gln552Ter) rs2040059119 0.00001
NM_001329943.3(KIAA0586):c.1656G>A (p.Gln552=) rs762081862 0.00001
NM_001329943.3(KIAA0586):c.1743dup (p.Ile582fs) rs1008358256 0.00001
NM_001329943.3(KIAA0586):c.2050C>T (p.Arg684Ter) rs749475936 0.00001
NM_001329943.3(KIAA0586):c.2504_2508del (p.Leu835fs) rs1410766981 0.00001
NM_001329943.3(KIAA0586):c.3097dup (p.Ala1033fs) rs1364954371 0.00001
NM_001329943.3(KIAA0586):c.3668C>G (p.Ser1223Ter) rs776003330 0.00001
NM_001329943.3(KIAA0586):c.3700del (p.Val1234fs) rs1253807820 0.00001
NM_001329943.3(KIAA0586):c.411-1455_411-1454insGG rs1201009622 0.00001
NM_001329943.3(KIAA0586):c.4373C>G (p.Ser1458Ter) rs773507064 0.00001
NM_001329943.3(KIAA0586):c.4495+3777del rs1237632090 0.00001
NM_001329943.3(KIAA0586):c.4495+3785A>T rs942756021 0.00001
NM_001378615.1(CC2D2A):c.1105C>T (p.Gln369Ter) rs1716895762 0.00001
NM_001378615.1(CC2D2A):c.1267C>T (p.Arg423Ter) rs757208121 0.00001
NM_001378615.1(CC2D2A):c.1466G>A (p.Arg489Gln) rs1300362447 0.00001
NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter) rs781252161 0.00001
NM_001378615.1(CC2D2A):c.2116C>T (p.Arg706Ter) rs1189294231 0.00001
NM_001378615.1(CC2D2A):c.2568del (p.Glu857fs) rs2475033368 0.00001
NM_001378615.1(CC2D2A):c.2581G>A (p.Asp861Asn) rs1367275342 0.00001
NM_001378615.1(CC2D2A):c.2650del (p.Val884fs) rs1447155539 0.00001
NM_001378615.1(CC2D2A):c.2773C>T (p.Arg925Ter) rs386833748 0.00001
NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter) rs118204053 0.00001
NM_001378615.1(CC2D2A):c.3049C>T (p.Gln1017Ter) rs1191597081 0.00001
NM_001378615.1(CC2D2A):c.3134T>C (p.Val1045Ala) rs863225173 0.00001
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter) rs760676442 0.00001
NM_001378615.1(CC2D2A):c.3376G>A (p.Glu1126Lys) rs1473532901 0.00001
NM_001378615.1(CC2D2A):c.3418_3425del (p.Ser1140fs) rs1560187743 0.00001
NM_001378615.1(CC2D2A):c.3535G>T (p.Glu1179Ter) rs767783281 0.00001
NM_001378615.1(CC2D2A):c.3688C>T (p.Arg1230Ter) rs1022325907 0.00001
NM_001378615.1(CC2D2A):c.3763C>T (p.Arg1255Ter) rs1271825377 0.00001
NM_001378615.1(CC2D2A):c.3851G>A (p.Arg1284His) rs754586025 0.00001
NM_001378615.1(CC2D2A):c.3988C>T (p.Arg1330Ter) rs758036385 0.00001
NM_001378615.1(CC2D2A):c.3989G>A (p.Arg1330Gln) rs763486732 0.00001
NM_001378615.1(CC2D2A):c.4333C>T (p.Arg1445Ter) rs529437224 0.00001
NM_001378615.1(CC2D2A):c.4496+2T>C rs386833762 0.00001
NM_001378615.1(CC2D2A):c.4550C>G (p.Thr1517Ser) rs780673487 0.00001
NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys) rs118204052 0.00001
NM_001378615.1(CC2D2A):c.4786G>A (p.Ala1596Thr) rs780190318 0.00001
NM_001378615.1(CC2D2A):c.517C>T (p.Arg173Ter) rs386833763 0.00001
NM_001378615.1(CC2D2A):c.712G>T (p.Glu238Ter) rs761213221 0.00001
NM_001378615.1(CC2D2A):c.913C>T (p.Gln305Ter) rs1158349299 0.00001
NM_001382391.1(CSPP1):c.1186C>T (p.Arg396Ter) rs775285273 0.00001
NM_001382391.1(CSPP1):c.1834G>T (p.Glu612Ter) rs1225726214 0.00001
NM_001382391.1(CSPP1):c.2275C>T (p.Arg759Ter) rs771203308 0.00001
NM_001382391.1(CSPP1):c.2542_2543del (p.Met848fs) rs587777143 0.00001
NM_001382391.1(CSPP1):c.2830A>T (p.Lys944Ter) rs1380418532 0.00001
NM_001382391.1(CSPP1):c.2968+1G>T rs587777142 0.00001
NM_001382391.1(CSPP1):c.2980C>T (p.Arg994Ter) rs760275528 0.00001
NM_001382391.1(CSPP1):c.3142C>T (p.Arg1048Ter) rs200881715 0.00001
NM_001382391.1(CSPP1):c.940C>T (p.Arg314Ter) rs774703929 0.00001
NM_002601.4(PDE6D):c.114del (p.Ser39fs) rs772392692 0.00001
NM_002601.4(PDE6D):c.181C>T (p.Arg61Ter) rs536550976 0.00001
NM_014704.4(CEP104):c.163C>T (p.Arg55Ter) rs757772764 0.00001
NM_014704.4(CEP104):c.1745del (p.His582fs) rs1211389550 0.00001
NM_014704.4(CEP104):c.759T>G (p.Tyr253Ter) rs372048855 0.00001
NM_015272.5(RPGRIP1L):c.1351-11A>G rs750076702 0.00001
NM_015272.5(RPGRIP1L):c.1372G>T (p.Glu458Ter) rs776941281 0.00001
NM_015272.5(RPGRIP1L):c.1489G>T (p.Glu497Ter) rs756821449 0.00001
NM_015272.5(RPGRIP1L):c.149del (p.Leu50fs) rs1200063571 0.00001
NM_015272.5(RPGRIP1L):c.1645G>T (p.Glu549Ter) rs1676833644 0.00001
NM_015272.5(RPGRIP1L):c.1702C>T (p.Gln568Ter) rs1349804201 0.00001
NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter) rs745413543 0.00001
NM_015272.5(RPGRIP1L):c.1905T>G (p.Tyr635Ter) rs1353551542 0.00001
NM_015272.5(RPGRIP1L):c.1945C>T (p.Arg649Ter) rs751477523 0.00001
NM_015272.5(RPGRIP1L):c.196C>T (p.Gln66Ter) rs751444506 0.00001
NM_015272.5(RPGRIP1L):c.2093T>G (p.Leu698Ter) rs201081228 0.00001
NM_015272.5(RPGRIP1L):c.2299C>T (p.Gln767Ter) rs1326042797 0.00001
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter) rs145665129 0.00001
NM_015272.5(RPGRIP1L):c.2468_2477del (p.Ala823fs) rs771129715 0.00001
NM_015272.5(RPGRIP1L):c.2582dup (p.Ser862fs) rs779776673 0.00001
NM_015272.5(RPGRIP1L):c.310C>T (p.Arg104Ter) rs547189939 0.00001
NM_015272.5(RPGRIP1L):c.3121A>T (p.Lys1041Ter) rs1456208953 0.00001
NM_015272.5(RPGRIP1L):c.3439G>T (p.Glu1147Ter) rs752266252 0.00001
NM_015272.5(RPGRIP1L):c.541C>T (p.Gln181Ter) rs1259684278 0.00001
NM_015272.5(RPGRIP1L):c.599T>G (p.Leu200Ter) rs564992297 0.00001
NM_015272.5(RPGRIP1L):c.71dup (p.Met24fs) rs990678342 0.00001
NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter) rs993394322 0.00001
NM_015631.6(TCTN3):c.793dup (p.Ser265fs) rs2492760878 0.00001
NM_015631.6(TCTN3):c.877C>T (p.Gln293Ter) rs764091969 0.00001
NM_015631.6(TCTN3):c.940G>T (p.Gly314Ter) rs793888508 0.00001
NM_015681.6(B9D1):c.467G>A (p.Arg156Gln) rs886038205 0.00001
NM_016464.5(TMEM138):c.306_307dup (p.Arg103fs) rs771224190 0.00001
NM_016464.5(TMEM138):c.306dup (p.Arg103fs) rs1554970010 0.00001
NM_016464.5(TMEM138):c.307del (p.Arg103fs) rs2539869968 0.00001
NM_016464.5(TMEM138):c.94C>T (p.Gln32Ter) rs146264153 0.00001
NM_017777.4(MKS1):c.1031C>G (p.Ser344Ter) rs760971749 0.00001
NM_017777.4(MKS1):c.1045C>T (p.Gln349Ter) rs1968675432 0.00001
NM_017777.4(MKS1):c.1156G>T (p.Glu386Ter) rs1968640181 0.00001
NM_017777.4(MKS1):c.1408-14A>G rs1194131222 0.00001
NM_017777.4(MKS1):c.149del (p.Asp50fs) rs1969403532 0.00001
NM_017777.4(MKS1):c.191-1G>A rs201362733 0.00001
NM_017777.4(MKS1):c.370C>T (p.Arg124Ter) rs990955357 0.00001
NM_017777.4(MKS1):c.458C>A (p.Ser153Ter) rs903778224 0.00001
NM_017777.4(MKS1):c.472C>T (p.Arg158Ter) rs386834050 0.00001
NM_017777.4(MKS1):c.515+1G>A rs201933838 0.00001
NM_017777.4(MKS1):c.51_55dup (p.Asp19fs) rs386834051 0.00001
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter) rs797045706 0.00001
NM_017777.4(MKS1):c.856_857del (p.Asp286fs) rs1968963177 0.00001
NM_018718.3(CEP41):c.418C>T (p.Gln140Ter) rs781848162 0.00001
NM_018718.3(CEP41):c.856C>T (p.Arg286Ter) rs139123547 0.00001
NM_019892.6(INPP5E):c.1021G>A (p.Gly341Ser) rs780882740 0.00001
NM_019892.6(INPP5E):c.1303C>T (p.Arg435Trp) rs756789619 0.00001
NM_019892.6(INPP5E):c.1565G>C (p.Gly522Ala) rs771866500 0.00001
NM_019892.6(INPP5E):c.1629C>G (p.Tyr543Ter) rs753398503 0.00001
NM_019892.6(INPP5E):c.1796G>A (p.Arg599Gln) rs750836133 0.00001
NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln) rs1588830568 0.00001
NM_019892.6(INPP5E):c.874C>G (p.Arg292Gly) rs753742613 0.00001
NM_024809.5(TCTN2):c.1436T>G (p.Leu479Ter) rs1216783170 0.00001
NM_024809.5(TCTN2):c.1498del (p.Gln500fs) rs757123597 0.00001
NM_024809.5(TCTN2):c.1506-2A>G rs374349989 0.00001
NM_024809.5(TCTN2):c.1626del (p.Asp543fs) rs863225220 0.00001
NM_024809.5(TCTN2):c.1751T>A (p.Ile584Lys) rs201010803 0.00001
NM_024809.5(TCTN2):c.1888_1889del (p.Leu630fs) rs1408997904 0.00001
NM_024809.5(TCTN2):c.367dup (p.Leu123fs) rs748951253 0.00001
NM_024809.5(TCTN2):c.988C>T (p.Arg330Ter) rs754596743 0.00001
NM_025114.4(CEP290):c.1072C>T (p.Gln358Ter) rs1592656929 0.00001
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter) rs1170451277 0.00001
NM_025114.4(CEP290):c.1474A>T (p.Lys492Ter) rs1278679056 0.00001
NM_025114.4(CEP290):c.1501G>T (p.Glu501Ter) rs780896294 0.00001
NM_025114.4(CEP290):c.1593C>A (p.Tyr531Ter) rs763559949 0.00001
NM_025114.4(CEP290):c.1623+2C>A rs2039218006 0.00001
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter) rs760415289 0.00001
NM_025114.4(CEP290):c.1711+1G>A rs587783009 0.00001
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter) rs371496675 0.00001
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter) rs780225183 0.00001
NM_025114.4(CEP290):c.1992del (p.Pro665fs) rs770175184 0.00001
NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro) rs762633090 0.00001
NM_025114.4(CEP290):c.2569A>T (p.Lys857Ter) rs1168542133 0.00001
NM_025114.4(CEP290):c.2605C>T (p.Gln869Ter) rs903257336 0.00001
NM_025114.4(CEP290):c.297+1G>T rs878853360 0.00001
NM_025114.4(CEP290):c.2T>A (p.Met1Lys) rs368984997 0.00001
NM_025114.4(CEP290):c.307C>T (p.Gln103Ter) rs752144368 0.00001
NM_025114.4(CEP290):c.3104-5T>G rs1302558061 0.00001
NM_025114.4(CEP290):c.3167C>A (p.Ser1056Ter) rs1267970567 0.00001
NM_025114.4(CEP290):c.3185del (p.Leu1062fs) rs863225189 0.00001
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter) rs1290241933 0.00001
NM_025114.4(CEP290):c.3573+2T>C rs1219277452 0.00001
NM_025114.4(CEP290):c.3802C>T (p.Gln1268Ter) rs1468942944 0.00001
NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter) rs1412133967 0.00001
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter) rs62640581 0.00001
NM_025114.4(CEP290):c.3922C>T (p.Gln1308Ter) rs1417251616 0.00001
NM_025114.4(CEP290):c.3925C>T (p.Gln1309Ter) rs2036816455 0.00001
NM_025114.4(CEP290):c.3G>A (p.Met1Ile) rs773525033 0.00001
NM_025114.4(CEP290):c.4041G>A (p.Trp1347Ter) rs2137251821 0.00001
NM_025114.4(CEP290):c.437del (p.Glu146fs) rs1452465499 0.00001
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter) rs757641323 0.00001
NM_025114.4(CEP290):c.4705-1G>T rs777464278 0.00001
NM_025114.4(CEP290):c.4933A>T (p.Lys1645Ter) rs773390201 0.00001
NM_025114.4(CEP290):c.5147C>A (p.Ser1716Ter) rs771864158 0.00001
NM_025114.4(CEP290):c.5163del (p.Thr1722fs) rs1565827171 0.00001
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter) rs575767207 0.00001
NM_025114.4(CEP290):c.5587-1G>C rs968692633 0.00001
NM_025114.4(CEP290):c.5745dup (p.Lys1916Ter) rs751361090 0.00001
NM_025114.4(CEP290):c.5932C>T (p.Arg1978Ter) rs371525247 0.00001
NM_025114.4(CEP290):c.5941G>T (p.Glu1981Ter) rs767426153 0.00001
NM_025114.4(CEP290):c.6012-2A>G rs555755221 0.00001
NM_025114.4(CEP290):c.6031C>T (p.Arg2011Ter) rs750073051 0.00001
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter) rs137852835 0.00001
NM_025114.4(CEP290):c.6661G>T (p.Glu2221Ter) rs2034243912 0.00001
NM_025114.4(CEP290):c.6703G>T (p.Glu2235Ter) rs1375836634 0.00001
NM_025114.4(CEP290):c.6769C>T (p.Gln2257Ter) rs2136704614 0.00001
NM_025114.4(CEP290):c.7027del (p.Val2343fs) rs2033827549 0.00001
NM_025114.4(CEP290):c.7287T>A (p.Tyr2429Ter) rs775189201 0.00001
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter) rs1374014119 0.00001
NM_153704.6(TMEM67):c.1073C>T (p.Pro358Leu) rs863225232 0.00001
NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys) rs863225235 0.00001
NM_153704.6(TMEM67):c.1175C>G (p.Pro392Arg) rs1455416289 0.00001
NM_153704.6(TMEM67):c.130C>T (p.Gln44Ter) rs267607118 0.00001
NM_153704.6(TMEM67):c.1318C>T (p.Arg440Trp) rs774746409 0.00001
NM_153704.6(TMEM67):c.1351C>T (p.Arg451Ter) rs116647652 0.00001
NM_153704.6(TMEM67):c.1353del (p.Glu452fs) rs749435317 0.00001
NM_153704.6(TMEM67):c.1387C>T (p.Arg463Ter) rs778155409 0.00001
NM_153704.6(TMEM67):c.1634G>A (p.Gly545Glu) rs267607114 0.00001
NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser) rs267607115 0.00001
NM_153704.6(TMEM67):c.1845T>A (p.Cys615Ter) rs1258492758 0.00001
NM_153704.6(TMEM67):c.1927C>T (p.Arg643Ter) rs115195998 0.00001
NM_153704.6(TMEM67):c.2290C>T (p.Arg764Ter) rs751517725 0.00001
NM_153704.6(TMEM67):c.2322+2dup rs386834192 0.00001
NM_153704.6(TMEM67):c.2345A>G (p.His782Arg) rs777137476 0.00001
NM_153704.6(TMEM67):c.2439+5G>C rs756686115 0.00001
NM_153704.6(TMEM67):c.2439G>A (p.Ala813=) rs201791586 0.00001
NM_153704.6(TMEM67):c.2528A>G (p.Tyr843Cys) rs386834194 0.00001
NM_153704.6(TMEM67):c.300C>A (p.Cys100Ter) rs751309268 0.00001
NM_153704.6(TMEM67):c.312+5G>A rs786200868 0.00001
NM_153704.6(TMEM67):c.370G>A (p.Glu124Lys) rs375824494 0.00001
NM_153704.6(TMEM67):c.387T>A (p.Cys129Ter) rs386834201 0.00001
NM_153704.6(TMEM67):c.459T>A (p.Cys153Ter) rs745935752 0.00001
NM_153704.6(TMEM67):c.515G>A (p.Arg172Gln) rs750950408 0.00001
NM_153704.6(TMEM67):c.579del (p.Gly195fs) rs386834203 0.00001
NM_153704.6(TMEM67):c.638G>A (p.Arg213His) rs770605718 0.00001
NM_153704.6(TMEM67):c.675G>A (p.Trp225Ter) rs386834205 0.00001
NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser) rs775883520 0.00001
NM_153704.6(TMEM67):c.863C>A (p.Ser288Ter) rs769957689 0.00001
NC_000001.10:g.(?_861322)_(3768971_?)del
NC_000001.11:g.(?_3815382)_(3852427_?)del
NC_000001.11:g.3823227_3823243del rs765630867
NC_000002.11:g.(?_202466462)_(202508123_?)del
NC_000002.11:g.(?_202501451)_(202633608_?)del
NC_000002.11:g.(?_202508062)_(202508123_?)del
NC_000002.11:g.(?_232645755)_(232645824_?)del
NC_000002.12:g.(?_201618900)_(201647825_?)del
NC_000003.11:g.(?_93714775)_(93724716_?)del
NC_000003.11:g.(?_93754155)_(93755618_?)del
NC_000004.11:g.(?_15477537)_(15603068_?)del
NC_000004.11:g.(?_15477557)_(15477615_?)del
NC_000004.11:g.(?_15477557)_(15482471_?)del
NC_000004.11:g.(?_15477557)_(15504566_?)del
NC_000004.11:g.(?_15480327)_(15482471_?)del
NC_000004.11:g.(?_15480341)_(15482457_?)del
NC_000004.11:g.(?_15482308)_(15560900_?)del
NC_000004.11:g.(?_15504032)_(15513066_?)del
NC_000004.11:g.(?_15511794)_(15573510_?)del
NC_000004.11:g.(?_15529050)_(15530369_?)del
NC_000004.11:g.(?_15529050)_(15554948_?)del
NC_000004.11:g.(?_15554761)_(15556853_?)del
NC_000004.11:g.(?_15565496)_(15581640_?)del
NC_000004.11:g.(?_15568980)_(15569429_?)del
NC_000004.11:g.(?_15599010)_(15603048_?)del
NC_000004.11:g.15601250_15601251delCT rs794729226
NC_000004.12:g.(?_15478723)_(15480827_?)del
NC_000004.12:g.(?_15540837)_(15541014_?)del
NC_000006.11:g.(?_135639637)_(135639774_?)del
NC_000006.11:g.(?_135679250)_(135754414_?)del
NC_000006.11:g.(?_135679250)_(135788792_?)del
NC_000006.11:g.(?_135748285)_(135763872_?)del
NC_000006.11:g.(?_135748388)_(135757374_?)del
NC_000006.11:g.(?_135749747)_(135784464_?)del
NC_000006.11:g.(?_135749761)_(135784450_?)del
NC_000006.11:g.(?_135751000)_(135754414_?)del
NC_000006.11:g.(?_135759493)_(135759656_?)del
NC_000006.11:g.(?_135769428)_(135769613_?)del
NC_000006.12:g.(?_135358112)_(135358207_?)del
NC_000006.12:g.(?_135429882)_(135433256_?)del
NC_000006.12:g.(?_135457583)_(135465286_?)del
NC_000006.12:g.135358181_135358190del
NC_000008.10:g.(?_67976634)_(68658364_?)del
NC_000008.10:g.(?_67998222)_(67998365_?)del
NC_000008.10:g.(?_68024187)_(68031076_?)del
NC_000008.10:g.(?_68044166)_(68044335_?)del
NC_000008.10:g.(?_94767143)_(94935901_?)del
NC_000008.10:g.(?_94770691)_(94777894_?)del
NC_000008.10:g.(?_94777614)_(94777894_?)del
NC_000008.10:g.(?_94797471)_(94808642_?)del
NC_000008.10:g.(?_94808184)_(94818223_?)del
NC_000008.10:g.(?_94821048)_(94821409_?)del
NC_000008.10:g.(?_94821048)_(94822135_?)del
NC_000008.10:g.(?_94827513)_(94827695_?)del
NC_000009.11:g.(?_138392557)_(141016451_?)del
NC_000009.11:g.(?_139265559)_(139333126_?)del
NC_000009.12:g.(?_136429675)_(136438954_?)del
NC_000010.10:g.(?_97452751)_(97453767_?)del
NC_000010.11:g.95682805del
NC_000011.9:g.(?_61133497)_(61133708_?)del
NC_000011.9:g.(?_61160094)_(61161458_?)del
NC_000012.11:g.(?_111057621)_(111057781_?)del
NC_000012.11:g.(?_111064147)_(111064317_?)del
NC_000012.11:g.(?_111064147)_(111074326_?)del
NC_000012.11:g.(?_124171363)_(124242579_?)del
NC_000012.11:g.(?_124189059)_(124192260_?)del
NC_000012.11:g.(?_88209612)_(88484553_?)del
NC_000012.11:g.(?_88209614)_(88484553_?)del
NC_000012.11:g.(?_88442961)_(88452817_?)del
NC_000012.11:g.(?_88447419)_(88448200_?)del
NC_000012.11:g.(?_88452605)_(88494960_?)del
NC_000012.11:g.(?_88452605)_(88525015_?)del
NC_000012.11:g.(?_88452615)_(88453807_?)del
NC_000012.11:g.(?_88465051)_(88465723_?)del
NC_000012.11:g.(?_88465051)_(88496808_?)del
NC_000012.11:g.(?_88470989)_(88473016_?)del
NC_000012.11:g.(?_88472849)_(88535092_?)del
NC_000012.11:g.(?_88479796)_(88514963_?)del
NC_000012.11:g.(?_88481537)_(88523673_?)del
NC_000012.11:g.(?_88484485)_(88487772_?)del
NC_000012.11:g.(?_88494960)_(88512540_?)dup
NC_000012.11:g.(?_88502823)_(88525015_?)del
NC_000012.11:g.(?_88510800)_(88510932_?)del
NC_000012.11:g.(?_88512250)_(88519156_?)del
NC_000012.12:g.(?_110626342)_(110642409_?)del
NC_000012.12:g.(?_123699684)_(123699830_?)del
NC_000012.12:g.(?_87983103)_(88507137_?)del
NC_000014.8:g.(?_58711639)_(59014694_?)del
NC_000014.8:g.(?_58924457)_(58927898_?)del
NC_000014.8:g.(?_58926541)_(58927898_?)del
NC_000014.8:g.(?_58938897)_(58941535_?)del
NC_000014.8:g.(?_58975253)_(58975447_?)del
NC_000014.9:g.(?_58443934)_(58450766_?)del
NC_000016.10:g.(?_53619015)_(53622366_?)del
NC_000016.10:g.(?_53619025)_(53622456_?)del
NC_000016.10:g.(?_75539974)_(75545515_?)del
NC_000016.9:g.(?_53635988)_(55539614_?)del
NC_000016.9:g.(?_53639383)_(53698931_?)del
NC_000016.9:g.(?_53644869)_(53644973_?)del
NC_000016.9:g.(?_53652917)_(53656288_?)del
NC_000016.9:g.(?_53674925)_(53734635_?)del
NC_000016.9:g.(?_53690364)_(53709054_?)del
NC_000016.9:g.(?_53691355)_(53692800_?)del
NC_000016.9:g.(?_53692306)_(53698941_?)del
NC_000016.9:g.(?_53692402)_(53694155_?)del
NC_000016.9:g.(?_53698762)_(53698941_?)del
NC_000016.9:g.(?_53698772)_(53734645_?)del
NC_000016.9:g.(?_53705412)_(53705505_?)del
NC_000016.9:g.(?_53705412)_(53706938_?)del
NC_000016.9:g.(?_53705412)_(53721887_?)del
NC_000016.9:g.(?_53706762)_(53709054_?)del
NC_000016.9:g.(?_53708919)_(53709044_?)del
NC_000016.9:g.(?_53720325)_(53721897_?)del
NC_000016.9:g.(?_53720335)_(53721887_?)del
NC_000016.9:g.(?_53720345)_(53721877_?)del
NC_000016.9:g.(?_53721765)_(53721887_?)del
NC_000016.9:g.(?_53721765)_(53734645_?)del
NC_000016.9:g.(?_53729213)_(53730217_?)del
NC_000016.9:g.(?_53734541)_(53734645_?)del
NC_000016.9:g.(?_75490611)_(75576599_?)del
NC_000016.9:g.(?_75512539)_(75576601_?)del
NC_000016.9:g.(?_75573892)_(75575373_?)del
NC_000016.9:g.(?_75573892)_(75579413_?)del
NC_000016.9:g.(?_75573892)_(75690509_?)del
NC_000016.9:g.(?_75579704)_(75579872_?)del
NC_000016.9:g.(?_75589682)_(75590169_?)del
NC_000017.10:g.(?_56289719)_(56294117_?)del
NC_000017.10:g.(?_56293914)_(56294114_?)del
NC_000017.10:g.(?_56295969)_(56296506_?)del
NC_000017.10:g.(?_56295971)_(56296882_?)del
NC_000017.10:g.(?_56296502)_(56296882_?)del
NC_000023.10:g.(?_12885698)_(13787227_?)del
NC_000023.10:g.(?_13753081)_(13765093_?)del
NC_000023.11:g.(?_13735052)_(13744539_?)del
NC_000023.11:g.(?_13735052)_(13769128_?)del
NC_000023.11:g.(?_13735066)_(13769113_?)del
NM_001044385.3(TMEM237):c.128dup (p.Asn43fs) rs2469508905
NM_001044385.3(TMEM237):c.175C>T (p.Arg59Ter) rs902145121
NM_001044385.3(TMEM237):c.314C>G (p.Ser105Ter) rs2105900861
NM_001044385.3(TMEM237):c.413_420del (p.Glu138fs) rs2469498201
NM_001044385.3(TMEM237):c.470_473dup (p.Thr159fs) rs1957813141
NM_001044385.3(TMEM237):c.605_606del (p.Ile202fs) rs756970007
NM_001044385.3(TMEM237):c.606_609dup (p.Val204fs) rs2105899220
NM_001044385.3(TMEM237):c.694dup (p.Ser232fs) rs2469493635
NM_001044385.3(TMEM237):c.869+1del rs1311551510
NM_001044385.3(TMEM237):c.890C>G (p.Ser297Ter) rs768528861
NM_001077418.3(TMEM231):c.-37G>A rs905065417
NM_001077418.3(TMEM231):c.139+1del rs2151711054
NM_001077418.3(TMEM231):c.139+39_139+40del rs2080807114
NM_001077418.3(TMEM231):c.140-3C>G rs776673877
NM_001077418.3(TMEM231):c.140-8dup rs751903254
NM_001077418.3(TMEM231):c.140-9_140-8del rs751903254
NM_001077418.3(TMEM231):c.164_176dup (p.Thr60fs)
NM_001077418.3(TMEM231):c.208del (p.Val70fs)
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter) rs2080804101
NM_001077418.3(TMEM231):c.33C>A (p.Val11=) rs762837979
NM_001077418.3(TMEM231):c.354dup (p.His119fs) rs2151703115
NM_001077418.3(TMEM231):c.379C>T (p.Gln127Ter)
NM_001077418.3(TMEM231):c.3_4insAGCTCTATGAGCTCATG (p.Ala2fs) rs1363632615
NM_001077418.3(TMEM231):c.438+1G>C rs1415483600
NM_001077418.3(TMEM231):c.4G>A (p.Ala2Thr) rs903354438
NM_001077418.3(TMEM231):c.535C>T (p.Gln179Ter) rs2151702587
NM_001077418.3(TMEM231):c.544C>T (p.Gln182Ter) rs760455133
NM_001077418.3(TMEM231):c.583-1_583delinsAG rs2151700036
NM_001077418.3(TMEM231):c.583-1_593delinsAGTATCTGTGAC rs2507323944
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001080522.2(CC2D2A):c.3597_3600del rs2475092773
NM_001082538.3(TCTN1):c.1418del (p.Pro473fs) rs757348545
NM_001082538.3(TCTN1):c.1465del (p.His489fs) rs2136172776
NM_001082538.3(TCTN1):c.1505dup (p.Leu502fs) rs1420275854
NM_001082538.3(TCTN1):c.1527del (p.Ala511fs) rs2136195903
NM_001082538.3(TCTN1):c.156del (p.Arg52fs) rs766816100
NM_001082538.3(TCTN1):c.1775_1778del (p.Val592fs) rs1353535488
NM_001082538.3(TCTN1):c.209_210del (p.Pro70fs) rs1456431690
NM_001082538.3(TCTN1):c.210dup (p.Val71fs) rs2548754386
NM_001082538.3(TCTN1):c.256_257del (p.Gln86fs) rs2548796089
NM_001082538.3(TCTN1):c.411_412del (p.Arg138fs) rs1398514249
NM_001082538.3(TCTN1):c.436dup (p.Ile146fs) rs2065847886
NM_001082538.3(TCTN1):c.514G>T (p.Glu172Ter)
NM_001082538.3(TCTN1):c.843+1G>C rs2066579666
NM_001082538.3(TCTN1):c.902_929dup (p.Thr310_Leu311insGlyGlyHisTer) rs2066879614
NM_001082538.3(TCTN1):c.962del (p.Val321fs) rs2548901989
NM_001134831.2(AHI1):c.101del (p.Lys34fs) rs777527386
NM_001134831.2(AHI1):c.102del (p.Lys36fs) rs2485334246
NM_001134831.2(AHI1):c.1034T>A (p.Leu345Ter) rs2484906480
NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter) rs121434348
NM_001134831.2(AHI1):c.1057_1064del (p.Thr352_Asp353insTer) rs2484905892
NM_001134831.2(AHI1):c.1064_1065del (p.Leu355fs) rs2484905836
NM_001134831.2(AHI1):c.1069del (p.Ser357fs) rs2484905749
NM_001134831.2(AHI1):c.1119del (p.Glu373fs) rs2484904759
NM_001134831.2(AHI1):c.1151+1del rs2484904067
NM_001134831.2(AHI1):c.1152-1G>A rs1344854036
NM_001134831.2(AHI1):c.1165del (p.Ser389fs)
NM_001134831.2(AHI1):c.1171del (p.Tyr391fs) rs2484884544
NM_001134831.2(AHI1):c.1205del (p.Pro402fs) rs794729195
NM_001134831.2(AHI1):c.1230del (p.Phe410fs) rs1788855011
NM_001134831.2(AHI1):c.1235dup (p.Leu413fs) rs772289223
NM_001134831.2(AHI1):c.1242del (p.Lys414fs) rs1165489547
NM_001134831.2(AHI1):c.1255G>T (p.Glu419Ter) rs2484882747
NM_001134831.2(AHI1):c.1259G>A (p.Trp420Ter)
NM_001134831.2(AHI1):c.1303C>T (p.Arg435Ter) rs121434349
NM_001134831.2(AHI1):c.1355del (p.Phe452fs) rs1554208431
NM_001134831.2(AHI1):c.1420del (p.Ile474fs) rs1369440486
NM_001134831.2(AHI1):c.1500C>G (p.Tyr500Ter) rs769742563
NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter) rs371637724
NM_001134831.2(AHI1):c.1553G>A (p.Trp518Ter) rs2484787497
NM_001134831.2(AHI1):c.1574_1588del (p.His525_Thr529del) rs2484786829
NM_001134831.2(AHI1):c.1583C>A (p.Ser528Ter) rs2128058828
NM_001134831.2(AHI1):c.1597_1621del25 (p.Val534_Arg535insTer)
NM_001134831.2(AHI1):c.1623del (p.Cys542fs) rs2484786284
NM_001134831.2(AHI1):c.166_167del (p.Met56fs) rs2128100863
NM_001134831.2(AHI1):c.1677dup (p.Pro560fs) rs1554350503
NM_001134831.2(AHI1):c.1777C>T (p.Gln593Ter) rs1480087006
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs) rs1786504555
NM_001134831.2(AHI1):c.1811C>G (p.Ser604Ter) rs781198326
NM_001134831.2(AHI1):c.1840dup (p.Cys614fs) rs1163874095
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter) rs797045223
NM_001134831.2(AHI1):c.1900dup (p.Tyr634fs) rs2128046176
NM_001134831.2(AHI1):c.195_202del (p.Asp65fs) rs1333095977
NM_001134831.2(AHI1):c.1983del (p.Trp662fs) rs1459452503
NM_001134831.2(AHI1):c.2010del (p.Thr671fs) rs2484675146
NM_001134831.2(AHI1):c.2057_2060del (p.Asn686fs) rs2484607393
NM_001134831.2(AHI1):c.2072del (p.Phe691fs) rs2484606871
NM_001134831.2(AHI1):c.2076_2077del (p.Arg692fs)
NM_001134831.2(AHI1):c.2081T>G (p.Leu694Ter) rs1179403052
NM_001134831.2(AHI1):c.2098_2099dup (p.Tyr701fs) rs863225136
NM_001134831.2(AHI1):c.2186_2190del (p.Met729fs) rs1736050138
NM_001134831.2(AHI1):c.2233del (p.Ser745fs) rs1784890440
NM_001134831.2(AHI1):c.2250_2251del (p.Cys751fs) rs1784887448
NM_001134831.2(AHI1):c.2282C>G (p.Ser761Ter) rs794727174
NM_001134831.2(AHI1):c.2295del (p.Gly766_Val767insTer) rs1369946782
NM_001134831.2(AHI1):c.2297G>A (p.Gly766Glu) rs863225139
NM_001134831.2(AHI1):c.2315_2318del (p.Asn772fs) rs1784617227
NM_001134831.2(AHI1):c.2369_2372del (p.Asn790fs) rs1562753388
NM_001134831.2(AHI1):c.2383_2386del (p.Glu795fs) rs1425381964
NM_001134831.2(AHI1):c.2495del (p.Ile831_Leu832insTer) rs1410559569
NM_001134831.2(AHI1):c.2552dup (p.Leu851fs)
NM_001134831.2(AHI1):c.2623+1G>T rs751823180
NM_001134831.2(AHI1):c.2623+2T>A rs2128009190
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter) rs1355690902
NM_001134831.2(AHI1):c.2684ATC[1] (p.His896del) rs2484506355
NM_001134831.2(AHI1):c.2703_2707dup (p.Ala903fs) rs1223838167
NM_001134831.2(AHI1):c.2742del (p.Leu915fs) rs1583179845
NM_001134831.2(AHI1):c.2748T>G (p.Tyr916Ter) rs2484504701
NM_001134831.2(AHI1):c.276del (p.Ser93fs) rs765985758
NM_001134831.2(AHI1):c.2773C>T (p.Gln925Ter) rs2484272408
NM_001134831.2(AHI1):c.2884C>T (p.Gln962Ter) rs2484269420
NM_001134831.2(AHI1):c.2912_2919dup (p.Thr974fs) rs1781571282
NM_001134831.2(AHI1):c.2929C>T (p.Gln977Ter) rs1307676365
NM_001134831.2(AHI1):c.2970dup (p.Arg991fs) rs1780545912
NM_001134831.2(AHI1):c.3014C>G (p.Ser1005Ter)
NM_001134831.2(AHI1):c.3055_3056del (p.Ser1019fs) rs2484036120
NM_001134831.2(AHI1):c.3059dup (p.Asn1020fs) rs1463748841
NM_001134831.2(AHI1):c.3065dup (p.Thr1023fs) rs2484035743
NM_001134831.2(AHI1):c.307_308insTAAATTGAGGA (p.Asn103delinsIleAsnTer) rs2485021945
NM_001134831.2(AHI1):c.3088C>T (p.Gln1030Ter) rs2484034993
NM_001134831.2(AHI1):c.308del (p.Asn103fs) rs2485021896
NM_001134831.2(AHI1):c.313_314del (p.Gln105fs) rs2485021515
NM_001134831.2(AHI1):c.3171_3174del (p.Ala1058fs) rs2483267924
NM_001134831.2(AHI1):c.3180T>A (p.Tyr1060Ter) rs2483267737
NM_001134831.2(AHI1):c.3200C>G (p.Ser1067Ter) rs2128384779
NM_001134831.2(AHI1):c.3229_3235dup (p.Arg1079fs) rs1787150198
NM_001134831.2(AHI1):c.3245del (p.Phe1082fs) rs1787147374
NM_001134831.2(AHI1):c.329dup (p.Asn110fs) rs1790735071
NM_001134831.2(AHI1):c.3303dup (p.Pro1102fs) rs2128384496
NM_001134831.2(AHI1):c.3313del (p.His1105fs) rs2483264736
NM_001134831.2(AHI1):c.3365dup (p.Ser1123fs) rs771754539
NM_001134831.2(AHI1):c.3394_3400del (p.Lys1131_Thr1132insTer)
NM_001134831.2(AHI1):c.3421C>T (p.Gln1141Ter) rs2483216049
NM_001134831.2(AHI1):c.3431C>G (p.Ser1144Ter) rs982379114
NM_001134831.2(AHI1):c.3438_3439insC (p.Lys1147fs) rs2483057361
NM_001134831.2(AHI1):c.344_384dup (p.Val129delinsLeuValTer) rs2485019975
NM_001134831.2(AHI1):c.3474del (p.Glu1158fs) rs916567564
NM_001134831.2(AHI1):c.3501del (p.Glu1168fs) rs781680525
NM_001134831.2(AHI1):c.383dup (p.Val129fs)
NM_001134831.2(AHI1):c.392dup (p.Thr132fs) rs2485019671
NM_001134831.2(AHI1):c.404del (p.Gln135fs) rs2485019127
NM_001134831.2(AHI1):c.430del (p.Glu144fs) rs2128098409
NM_001134831.2(AHI1):c.478A>T (p.Lys160Ter) rs1257185309
NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter) rs1270654737
NM_001134831.2(AHI1):c.523G>T (p.Glu175Ter) rs751749918
NM_001134831.2(AHI1):c.576T>A (p.Tyr192Ter)
NM_001134831.2(AHI1):c.630_633del (p.Lys210fs) rs776569081
NM_001134831.2(AHI1):c.643C>T (p.Gln215Ter)
NM_001134831.2(AHI1):c.703dup (p.Arg235fs) rs1336317768
NM_001134831.2(AHI1):c.72_85del (p.Ser24fs) rs780910490
NM_001134831.2(AHI1):c.836del (p.Asp279fs) rs1554214237
NM_001134831.2(AHI1):c.856G>T (p.Glu286Ter) rs894830970
NM_001134831.2(AHI1):c.894del (p.Lys298fs) rs1157749145
NM_001134831.2(AHI1):c.900del (p.Lys300fs) rs2128092639
NM_001134831.2(AHI1):c.910del (p.Thr304fs) rs753874898
NM_001134831.2(AHI1):c.910dup (p.Thr304fs) rs753874898
NM_001134831.2(AHI1):c.914_917del (p.Lys305fs) rs1181159671
NM_001134831.2(AHI1):c.917dup (p.Lys307fs) rs1181159671
NM_001134831.2(AHI1):c.96del (p.Lys32fs) rs747322175
NM_001134831.2(AHI1):c.96dup (p.Leu33fs) rs747322175
NM_001173990.3(TMEM216):c.118_119del (p.Phe40fs) rs2135190154
NM_001173990.3(TMEM216):c.135del (p.Gly46fs)
NM_001173990.3(TMEM216):c.196del (p.Tyr66fs) rs2539892774
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His) rs201108965
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001173990.3(TMEM216):c.228dup (p.Gly77fs) rs767384710
NM_001173990.3(TMEM216):c.236del (p.Lys79fs) rs2539896387
NM_001173990.3(TMEM216):c.248_249del (p.Cys83fs) rs2539896401
NM_001173990.3(TMEM216):c.249C>A (p.Cys83Ter) rs2135195989
NM_001173990.3(TMEM216):c.250C>T (p.Gln84Ter) rs1362597973
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) rs11230683
NM_001173990.3(TMEM216):c.360dup (p.Asn121fs) rs2539896690
NM_001173990.3(TMEM216):c.373_374insA (p.Leu125fs) rs2135196385
NM_001173990.3(TMEM216):c.67del (p.Leu23fs) rs1565088283
NM_001173990.3(TMEM216):c.75del (p.Phe25_Leu26insTer) rs2135190077
NM_001173990.3(TMEM216):c.77_78insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAAATCCTGTTCTTTCT (p.Leu26_Asn27insPhePhePhePhePhePheXaaXaaXaaXaaLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer) rs2539891609
NM_001174150.2(ARL13B):c.1147dup (p.Trp383fs)
NM_001174150.2(ARL13B):c.393_396del (p.Gln132fs) rs1560002959
NM_001174150.2(ARL13B):c.440dup (p.Ser148fs) rs2107111639
NM_001174150.2(ARL13B):c.538A>T (p.Lys180Ter) rs767905644
NM_001174150.2(ARL13B):c.550del (p.Tyr184fs) rs1180104221
NM_001174150.2(ARL13B):c.599G>A (p.Arg200His) rs764109067
NM_001174150.2(ARL13B):c.679C>T (p.Arg227Ter)
NM_001174150.2(ARL13B):c.73_74del (p.Leu25fs) rs1559971312
NM_001174150.2(ARL13B):c.830del (p.Asn277fs) rs752472169
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs) rs752472169
NM_001174150.2(ARL13B):c.932dup (p.Asn311fs) rs750642821
NM_001174150.2(ARL13B):c.986dup (p.Asn330fs) rs2107152691
NM_001329943.3(KIAA0586):c.1075_1076del (p.Lys359fs) rs2140706563
NM_001329943.3(KIAA0586):c.1085del (p.Asn362fs) rs2542947219
NM_001329943.3(KIAA0586):c.1093del (p.Glu365fs) rs1232900431
NM_001329943.3(KIAA0586):c.1193del (p.Ser398fs) rs2543003338
NM_001329943.3(KIAA0586):c.126T>A (p.Cys42Ter) rs1301378192
NM_001329943.3(KIAA0586):c.1342_1345del (p.Glu448fs) rs750592118
NM_001329943.3(KIAA0586):c.134_137dup (p.Leu47fs) rs1313375310
NM_001329943.3(KIAA0586):c.1466_1476del (p.Lys489fs) rs2140844892
NM_001329943.3(KIAA0586):c.1645del (p.Ala549fs) rs2543107879
NM_001329943.3(KIAA0586):c.1667dup (p.Arg557fs) rs2140873534
NM_001329943.3(KIAA0586):c.1708C>T (p.Gln570Ter) rs2040187420
NM_001329943.3(KIAA0586):c.1759C>T (p.Gln587Ter) rs2040191088
NM_001329943.3(KIAA0586):c.1804C>T (p.Gln602Ter) rs1566827747
NM_001329943.3(KIAA0586):c.1872del (p.Glu625fs) rs2140875258
NM_001329943.3(KIAA0586):c.1892dup (p.Leu631fs) rs2543152118
NM_001329943.3(KIAA0586):c.1927_1928del (p.Met643fs) rs1383490784
NM_001329943.3(KIAA0586):c.1935del (p.Val646fs) rs2140886312
NM_001329943.3(KIAA0586):c.194C>G (p.Ser65Ter) rs797045119
NM_001329943.3(KIAA0586):c.2047_2048del (p.Glu683fs) rs2140887842
NM_001329943.3(KIAA0586):c.2257C>T (p.Gln753Ter) rs2543274107
NM_001329943.3(KIAA0586):c.235C>T (p.Gln79Ter) rs2542458244
NM_001329943.3(KIAA0586):c.2405del (p.Lys802fs) rs1566843312
NM_001329943.3(KIAA0586):c.25G>T (p.Glu9Ter) rs2140372917
NM_001329943.3(KIAA0586):c.2800del (p.Thr934fs) rs2543399660
NM_001329943.3(KIAA0586):c.2810del (p.Asn937fs) rs2543399761
NM_001329943.3(KIAA0586):c.3173del (p.Pro1058fs) rs759888144
NM_001329943.3(KIAA0586):c.3211A>T (p.Lys1071Ter) rs1272638490
NM_001329943.3(KIAA0586):c.3341dup (p.Thr1115fs) rs747711431
NM_001329943.3(KIAA0586):c.3353del (p.Pro1118fs) rs2141193077
NM_001329943.3(KIAA0586):c.3481G>T (p.Glu1161Ter) rs746158069
NM_001329943.3(KIAA0586):c.3638del (p.Pro1213fs) rs2141202895
NM_001329943.3(KIAA0586):c.3718_3719del (p.Leu1240fs) rs774914799
NM_001329943.3(KIAA0586):c.3804C>G (p.Tyr1268Ter) rs2543724955
NM_001329943.3(KIAA0586):c.38del (p.Lys13fs) rs745949846
NM_001329943.3(KIAA0586):c.38dup (p.Ile14fs) rs745949846
NM_001329943.3(KIAA0586):c.4012G>T (p.Glu1338Ter) rs2043343702
NM_001329943.3(KIAA0586):c.4077del (p.Leu1360fs) rs762932867
NM_001329943.3(KIAA0586):c.4080_4081del (p.Met1362fs) rs867342730
NM_001329943.3(KIAA0586):c.411-1371G>A rs2038350104
NM_001329943.3(KIAA0586):c.4225del (p.Glu1409fs) rs2141430525
NM_001329943.3(KIAA0586):c.4321C>T (p.Gln1441Ter) rs2544096591
NM_001329943.3(KIAA0586):c.4350dup (p.Lys1451Ter) rs2544164533
NM_001329943.3(KIAA0586):c.4377_4378del (p.Ser1460fs) rs751356878
NM_001329943.3(KIAA0586):c.4420C>T (p.Gln1474Ter) rs1425019451
NM_001329943.3(KIAA0586):c.4456C>T (p.Gln1486Ter) rs2140098022
NM_001329943.3(KIAA0586):c.4495+3755del rs2140128017
NM_001329943.3(KIAA0586):c.4495+3767A>T rs2140128191
NM_001329943.3(KIAA0586):c.465del (p.Gly156fs) rs2542787143
NM_001329943.3(KIAA0586):c.622dup (p.Thr208fs) rs2140565674
NM_001329943.3(KIAA0586):c.653_663del (p.Asp218fs) rs2542819525
NM_001329943.3(KIAA0586):c.67G>T (p.Glu23Ter)
NM_001329943.3(KIAA0586):c.730G>T (p.Glu244Ter) rs376338487
NM_001329943.3(KIAA0586):c.789dup (p.Gln264fs) rs1203751352
NM_001329943.3(KIAA0586):c.938del (p.Tyr313fs) rs2140664007
NM_001329943.3(KIAA0586):c.939dup (p.Asn314Ter) rs2542904941
NM_001329943.3(KIAA0586):c.961+1G>A rs2542905627
NM_001378615.1(CC2D2A):c.121C>T (p.Gln41Ter) rs2108970120
NM_001378615.1(CC2D2A):c.1263_1264insGGCATGTTTTGGC (p.Ser422fs) rs762998472
NM_001378615.1(CC2D2A):c.1297del (p.Gln433fs) rs1560166488
NM_001378615.1(CC2D2A):c.1339del (p.Ala447fs) rs386833745
NM_001378615.1(CC2D2A):c.1370T>A (p.Leu457Ter) rs1131691659
NM_001378615.1(CC2D2A):c.1440del (p.Ile481fs) rs2474955188
NM_001378615.1(CC2D2A):c.1465C>T (p.Arg489Ter) rs145678228
NM_001378615.1(CC2D2A):c.1468C>T (p.Gln490Ter) rs1288358527
NM_001378615.1(CC2D2A):c.1498del (p.Glu500fs) rs2474965222
NM_001378615.1(CC2D2A):c.1538G>A (p.Trp513Ter) rs2109029867
NM_001378615.1(CC2D2A):c.1596del (p.Val533fs) rs2474966060
NM_001378615.1(CC2D2A):c.1644T>A (p.Tyr548Ter) rs1718163724
NM_001378615.1(CC2D2A):c.1666del (p.Glu555_Ile556insTer) rs773740057
NM_001378615.1(CC2D2A):c.1676T>C (p.Leu559Pro) rs754221308
NM_001378615.1(CC2D2A):c.1684G>T (p.Glu562Ter) rs1008514114
NM_001378615.1(CC2D2A):c.16G>T (p.Glu6Ter) rs2474814350
NM_001378615.1(CC2D2A):c.173del (p.Gly58fs) rs2474830777
NM_001378615.1(CC2D2A):c.1751G>A (p.Trp584Ter) rs980305935
NM_001378615.1(CC2D2A):c.1760del (p.Val587fs) rs1171520322
NM_001378615.1(CC2D2A):c.1790_1809del (p.Gln597fs) rs2474978426
NM_001378615.1(CC2D2A):c.1801G>T (p.Glu601Ter) rs1469975894
NM_001378615.1(CC2D2A):c.1883dup (p.Val629fs) rs2474978902
NM_001378615.1(CC2D2A):c.199del (p.Glu67fs) rs1433294475
NM_001378615.1(CC2D2A):c.2043dup (p.Val682fs) rs1718392791
NM_001378615.1(CC2D2A):c.2105del (p.Gly702fs) rs2474988370
NM_001378615.1(CC2D2A):c.2146C>T (p.Gln716Ter) rs2474988519
NM_001378615.1(CC2D2A):c.2181+1G>A rs1718406119
NM_001378615.1(CC2D2A):c.2222_2229dup (p.Phe744fs) rs1471484901
NM_001378615.1(CC2D2A):c.2287G>T (p.Glu763Ter)
NM_001378615.1(CC2D2A):c.2417del (p.Ala806fs) rs2475026265
NM_001378615.1(CC2D2A):c.2561G>A (p.Trp854Ter) rs1560180188
NM_001378615.1(CC2D2A):c.25A>T (p.Lys9Ter) rs2474814382
NM_001378615.1(CC2D2A):c.2624C>A (p.Ser875Ter) rs200904521
NM_001378615.1(CC2D2A):c.2625+1G>A rs1577372471
NM_001378615.1(CC2D2A):c.2625+2T>C rs1449972974
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter) rs764719093
NM_001378615.1(CC2D2A):c.2728C>T (p.Arg910Ter) rs781206278
NM_001378615.1(CC2D2A):c.2774G>C (p.Arg925Pro) rs200707391
NM_001378615.1(CC2D2A):c.2854A>T (p.Arg952Ter)
NM_001378615.1(CC2D2A):c.2875G>T (p.Glu959Ter) rs2475046668
NM_001378615.1(CC2D2A):c.2875del (p.Glu959fs) rs2109060174
NM_001378615.1(CC2D2A):c.2898_2899dup (p.Ile967fs) rs2109060214
NM_001378615.1(CC2D2A):c.28del (p.Lys9_Ile10insTer) rs2474814375
NM_001378615.1(CC2D2A):c.293_299del (p.Glu97_Phe98insTer) rs757807971
NM_001378615.1(CC2D2A):c.2993AAG[1] (p.Glu999_Glu1000del) rs764874938
NM_001378615.1(CC2D2A):c.2993AAG[2] (p.Glu1000del) rs764874938
NM_001378615.1(CC2D2A):c.2999_3000inv (p.Glu1000Val)
NM_001378615.1(CC2D2A):c.304G>T (p.Gly102Ter) rs1278804341
NM_001378615.1(CC2D2A):c.306dup (p.Arg103fs) rs2474888813
NM_001378615.1(CC2D2A):c.3084del (p.Lys1029fs) rs386833749
NM_001378615.1(CC2D2A):c.3145C>T (p.Arg1049Ter) rs386833750
NM_001378615.1(CC2D2A):c.3242del (p.Pro1081fs)
NM_001378615.1(CC2D2A):c.3276C>A (p.Tyr1092Ter) rs1719937487
NM_001378615.1(CC2D2A):c.3280del (p.Leu1094fs)
NM_001378615.1(CC2D2A):c.3293T>G (p.Leu1098Ter) rs1719950579
NM_001378615.1(CC2D2A):c.3311A>G (p.Glu1104Gly) rs2109070607
NM_001378615.1(CC2D2A):c.3320_3321del (p.Phe1107fs) rs2109070615
NM_001378615.1(CC2D2A):c.3336C>A (p.Cys1112Ter) rs2475074578
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001378615.1(CC2D2A):c.3468dup (p.Asp1157Ter) rs1170204399
NM_001378615.1(CC2D2A):c.3469_3476del (p.Asp1157fs) rs2475079967
NM_001378615.1(CC2D2A):c.3505G>T (p.Glu1169Ter) rs890421496
NM_001378615.1(CC2D2A):c.3538A>T (p.Arg1180Ter) rs2475083325
NM_001378615.1(CC2D2A):c.356T>A (p.Leu119Ter) rs2474890243
NM_001378615.1(CC2D2A):c.3588del (p.Ala1197fs) rs982352950
NM_001378615.1(CC2D2A):c.35_36del (p.Thr12fs) rs764788925
NM_001378615.1(CC2D2A):c.3638del (p.Gly1213fs) rs2475092915
NM_001378615.1(CC2D2A):c.3640_3643dup (p.Ser1215fs) rs2109077880
NM_001378615.1(CC2D2A):c.3652C>T (p.Arg1218Ter) rs375278294
NM_001378615.1(CC2D2A):c.3734_3744del (p.Glu1245fs) rs2475093346
NM_001378615.1(CC2D2A):c.3739C>T (p.Gln1247Ter) rs2475093374
NM_001378615.1(CC2D2A):c.3744_3747dup (p.Pro1250fs) rs863225171
NM_001378615.1(CC2D2A):c.3762del (p.Arg1255fs) rs2475093512
NM_001378615.1(CC2D2A):c.3770del (p.Lys1257fs) rs2475093534
NM_001378615.1(CC2D2A):c.3774dup (p.Glu1259Ter) rs386833757
NM_001378615.1(CC2D2A):c.3803_3804del (p.Gln1268fs) rs2109083312
NM_001378615.1(CC2D2A):c.3810_3811del (p.Lys1272fs) rs1312758061
NM_001378615.1(CC2D2A):c.3820C>T (p.Gln1274Ter) rs2475106059
NM_001378615.1(CC2D2A):c.384del (p.Arg129fs) rs2474890363
NM_001378615.1(CC2D2A):c.3892_3893del (p.Val1298fs) rs763735590
NM_001378615.1(CC2D2A):c.3896_3920del (p.Val1298_Phe1299insTer) rs2475106281
NM_001378615.1(CC2D2A):c.3897del (p.Phe1299fs) rs776159564
NM_001378615.1(CC2D2A):c.3964C>T (p.Gln1322Ter)
NM_001378615.1(CC2D2A):c.3975+4_3975+7del rs386833759
NM_001378615.1(CC2D2A):c.4084dup (p.Ala1362fs) rs1313708855
NM_001378615.1(CC2D2A):c.4086del (p.Asp1364fs) rs2109090291
NM_001378615.1(CC2D2A):c.4098del (p.Glu1367fs) rs1720921490
NM_001378615.1(CC2D2A):c.411_414del (p.Lys137fs) rs754687282
NM_001378615.1(CC2D2A):c.4127_4130del (p.Phe1376fs) rs2475123994
NM_001378615.1(CC2D2A):c.4179+1del rs386833760
NM_001378615.1(CC2D2A):c.418_419insGAGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTCTGCATCTCCATCTGAGGTACCGGGTTCATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAGAATTGG (p.Glu140delinsGlyGlyArgSerGlnAspGlyArgIleGlyThrAlaProValTyrSerSerGlnArgGluArgArgArgArgArgTer)
NM_001378615.1(CC2D2A):c.4193_4194dup (p.Val1399fs) rs1720997777
NM_001378615.1(CC2D2A):c.4229G>A (p.Trp1410Ter) rs1044009143
NM_001378615.1(CC2D2A):c.4254T>A (p.Tyr1418Ter) rs1560196405
NM_001378615.1(CC2D2A):c.4256del (p.Gly1419fs) rs772110399
NM_001378615.1(CC2D2A):c.4295_4298del (p.Gly1431_Cys1432insTer) rs1560196436
NM_001378615.1(CC2D2A):c.4320G>A (p.Trp1440Ter) rs2475144110
NM_001378615.1(CC2D2A):c.436G>T (p.Glu146Ter) rs2474890606
NM_001378615.1(CC2D2A):c.4440del (p.Glu1481fs) rs2475148033
NM_001378615.1(CC2D2A):c.4455C>A (p.Tyr1485Ter) rs2475148089
NM_001378615.1(CC2D2A):c.4460dup (p.Ser1488fs) rs1560199860
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_001378615.1(CC2D2A):c.4471dup (p.Ala1491fs) rs2475148144
NM_001378615.1(CC2D2A):c.4507dup (p.Ile1503fs) rs2475156660
NM_001378615.1(CC2D2A):c.4513A>T (p.Lys1505Ter) rs1721481933
NM_001378615.1(CC2D2A):c.4522del (p.Ile1508fs) rs775292940
NM_001378615.1(CC2D2A):c.4522dup (p.Ile1508fs) rs775292940
NM_001378615.1(CC2D2A):c.4550C>T (p.Thr1517Ile) rs780673487
NM_001378615.1(CC2D2A):c.4552C>T (p.Arg1518Trp) rs767260373
NM_001378615.1(CC2D2A):c.4569T>A (p.Cys1523Ter) rs1721486976
NM_001378615.1(CC2D2A):c.4594_4624del (p.Leu1531_Pro1532insTer) rs2475157096
NM_001378615.1(CC2D2A):c.463C>T (p.Gln155Ter) rs2474909050
NM_001378615.1(CC2D2A):c.4649T>C (p.Leu1550Pro)
NM_001378615.1(CC2D2A):c.4654A>T (p.Lys1552Ter) rs2148496033
NM_001378615.1(CC2D2A):c.4655_4656dup (p.Gln1553fs) rs2475157352
NM_001378615.1(CC2D2A):c.4671C>A (p.Tyr1557Ter) rs2475157423
NM_001378615.1(CC2D2A):c.467_468insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACGTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAGGACTCAACA (p.Gln156_Glu157insAlaGlyArgGlyGlySerArgLeuTer) rs2474909022
NM_001378615.1(CC2D2A):c.4682dup (p.Phe1562fs) rs1553845917
NM_001378615.1(CC2D2A):c.469G>T (p.Glu157Ter) rs1716487985
NM_001378615.1(CC2D2A):c.4708G>T (p.Glu1570Ter) rs2475163025
NM_001378615.1(CC2D2A):c.4722_4725del (p.Ile1575fs)
NM_001378615.1(CC2D2A):c.523del (p.Ile175fs) rs1338343514
NM_001378615.1(CC2D2A):c.534del (p.Lys178fs) rs1716492953
NM_001378615.1(CC2D2A):c.541-1G>A rs1716552711
NM_001378615.1(CC2D2A):c.622G>T (p.Glu208Ter)
NM_001378615.1(CC2D2A):c.650del (p.Gly217fs) rs746415983
NM_001378615.1(CC2D2A):c.676G>T (p.Glu226Ter) rs1716561509
NM_001378615.1(CC2D2A):c.715del (p.Met239fs) rs754985710
NM_001378615.1(CC2D2A):c.718-1G>C rs2474920861
NM_001378615.1(CC2D2A):c.77_83del (p.Arg26fs) rs1443329727
NM_001378615.1(CC2D2A):c.79C>T (p.Gln27Ter) rs2474823203
NM_001378615.1(CC2D2A):c.839del (p.Gln280fs) rs2474921234
NM_001378615.1(CC2D2A):c.902_903insGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGCTTCC (p.Glu302fs)
NM_001378615.1(CC2D2A):c.941_943delinsC (p.Leu314fs) rs1445978091
NM_001378615.1(CC2D2A):c.948del (p.Gly317_Val318insTer) rs2109012834
NM_001378615.1(CC2D2A):c.964del (p.Val322fs) rs1577340510
NM_001382391.1(CSPP1):c.-56del rs762868036
NM_001382391.1(CSPP1):c.-69C>T rs1294428066
NM_001382391.1(CSPP1):c.1055_1059del (p.Asn352fs)
NM_001382391.1(CSPP1):c.1083del (p.Met362fs) rs2488787902
NM_001382391.1(CSPP1):c.1105C>T (p.Arg369Ter) rs374703898
NM_001382391.1(CSPP1):c.1108G>T (p.Glu370Ter)
NM_001382391.1(CSPP1):c.1153G>T (p.Glu385Ter) rs886044058
NM_001382391.1(CSPP1):c.1187+1G>A rs2488871242
NM_001382391.1(CSPP1):c.1187G>A (p.Arg396Gln) rs760205035
NM_001382391.1(CSPP1):c.140dup (p.Ile48fs) rs2488286486
NM_001382391.1(CSPP1):c.1505del (p.Pro502fs) rs1818317027
NM_001382391.1(CSPP1):c.1544_1547del (p.Asn515fs) rs752908017
NM_001382391.1(CSPP1):c.1549C>T (p.Arg517Ter) rs756752153
NM_001382391.1(CSPP1):c.1560T>A (p.Tyr520Ter)
NM_001382391.1(CSPP1):c.1787_1790del (p.Lys596fs) rs1409618249
NM_001382391.1(CSPP1):c.1817del (p.Leu606fs) rs1021950925
NM_001382391.1(CSPP1):c.1850_1860del (p.Arg617fs) rs1189289587
NM_001382391.1(CSPP1):c.1857_1860del (p.Lys619fs) rs1563653231
NM_001382391.1(CSPP1):c.1929del (p.Gly644fs)
NM_001382391.1(CSPP1):c.19G>T (p.Glu7Ter) rs1201375699
NM_001382391.1(CSPP1):c.2104G>T (p.Glu702Ter) rs1825358020
NM_001382391.1(CSPP1):c.2205del (p.Lys735fs) rs1826221738
NM_001382391.1(CSPP1):c.2206C>T (p.Gln736Ter) rs2129559063
NM_001382391.1(CSPP1):c.2220C>A (p.Tyr740Ter) rs1402669959
NM_001382391.1(CSPP1):c.2257_2260del (p.Gln753fs)
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs) rs587777139
NM_001382391.1(CSPP1):c.2266G>T (p.Glu756Ter) rs867666521
NM_001382391.1(CSPP1):c.2282_2283del (p.Arg761fs) rs2489679993
NM_001382391.1(CSPP1):c.2285_2286del (p.Leu762fs) rs1827098991
NM_001382391.1(CSPP1):c.229G>T (p.Gly77Ter)
NM_001382391.1(CSPP1):c.2372_2376del (p.Lys791fs) rs770180877
NM_001382391.1(CSPP1):c.2379_2380del (p.Lys794fs) rs1375090095
NM_001382391.1(CSPP1):c.239_240del (p.Asp79_Tyr80insTer) rs1212599937
NM_001382391.1(CSPP1):c.2456_2459del (p.Lys819fs) rs761382780
NM_001382391.1(CSPP1):c.2477_2478insT (p.Lys826fs) rs2489718499
NM_001382391.1(CSPP1):c.2521_2524del (p.Ile841fs) rs755739341
NM_001382391.1(CSPP1):c.2527dup (p.Glu843fs) rs1554604482
NM_001382391.1(CSPP1):c.2540del (p.His847fs) rs1563720581
NM_001382391.1(CSPP1):c.255_256del (p.His85fs) rs1554562278
NM_001382391.1(CSPP1):c.2584del (p.Ile862fs) rs2489901305
NM_001382391.1(CSPP1):c.259_263del (p.Leu87fs) rs763103286
NM_001382391.1(CSPP1):c.263_267del (p.Lys88fs) rs2129543529
NM_001382391.1(CSPP1):c.264del (p.Glu89fs) rs2488462982
NM_001382391.1(CSPP1):c.2669C>A (p.Ser890Ter) rs766529852
NM_001382391.1(CSPP1):c.2723del (p.Asn908fs) rs863225190
NM_001382391.1(CSPP1):c.2741C>G (p.Ser914Ter) rs779579881
NM_001382391.1(CSPP1):c.2968+1G>A rs587777142
NM_001382391.1(CSPP1):c.3067C>T (p.Gln1023Ter)
NM_001382391.1(CSPP1):c.30del (p.Glu11fs) rs2488230949
NM_001382391.1(CSPP1):c.3227dup (p.Tyr1076Ter) rs587777141
NM_001382391.1(CSPP1):c.3266del (p.Pro1089fs) rs1452342471
NM_001382391.1(CSPP1):c.3368_3371del (p.Leu1122_Ser1123insTer) rs1206214608
NM_001382391.1(CSPP1):c.3405_3406del (p.Arg1136fs) rs2129575958
NM_001382391.1(CSPP1):c.3406_3407insTATA (p.Arg1136delinsIleTer) rs1175214174
NM_001382391.1(CSPP1):c.419_422del (p.Asn140fs) rs1371078806
NM_001382391.1(CSPP1):c.442G>T (p.Glu148Ter) rs2488603690
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs) rs766020802
NM_001382391.1(CSPP1):c.818dup (p.Tyr273Ter)
NM_001382391.1(CSPP1):c.853G>T (p.Glu285Ter) rs1563541637
NM_001382391.1(CSPP1):c.923+1G>C rs863225194
NM_001384732.1(CPLANE1):c.8947A>T (p.Arg2983Ter) rs1345413118
NM_002601.4(PDE6D):c.342del (p.Glu114fs) rs2469686850
NM_002601.4(PDE6D):c.66del (p.Arg23fs) rs2106261987
NM_003611.3(OFD1):c.1099C>T (p.Arg367Ter) rs312262863
NM_003611.3(OFD1):c.111+2T>G rs312262809
NM_003611.3(OFD1):c.1114G>T (p.Glu372Ter) rs2518886198
NM_003611.3(OFD1):c.1117_1121del (p.Arg373fs) rs2518886212
NM_003611.3(OFD1):c.1193_1196del (p.Gln398fs) rs312262868
NM_003611.3(OFD1):c.121C>T (p.Arg41Ter) rs312262810
NM_003611.3(OFD1):c.1313C>G (p.Ser438Ter) rs1569141500
NM_003611.3(OFD1):c.158del (p.Val52_Leu53insTer)
NM_003611.3(OFD1):c.1644_1645del (p.Gln548fs)
NM_003611.3(OFD1):c.1651_1654del (p.Thr551fs) rs2518924877
NM_003611.3(OFD1):c.1743C>A (p.Cys581Ter) rs983722470
NM_003611.3(OFD1):c.1927G>T (p.Glu643Ter) rs1397283663
NM_003611.3(OFD1):c.1980dup (p.Ala661fs) rs2047883109
NM_003611.3(OFD1):c.198del (p.Ser67fs) rs2518758535
NM_003611.3(OFD1):c.2101C>T (p.Gln701Ter) rs2518940054
NM_003611.3(OFD1):c.2126_2129del (p.Glu709fs) rs312262890
NM_003611.3(OFD1):c.2395C>T (p.Arg799Ter) rs2518959653
NM_003611.3(OFD1):c.260A>G (p.Tyr87Cys) rs312262818
NM_003611.3(OFD1):c.2668C>T (p.Arg890Ter) rs863225212
NM_003611.3(OFD1):c.2689dup (p.Arg897fs) rs1252017658
NM_003611.3(OFD1):c.2725C>T (p.Arg909Ter) rs1060500123
NM_003611.3(OFD1):c.2745_2746del (p.Tyr916fs) rs2147082213
NM_003611.3(OFD1):c.2789_2793del (p.Ile930fs) rs797044945
NM_003611.3(OFD1):c.308_312del (p.Glu103fs) rs2518759610
NM_003611.3(OFD1):c.382-10_382-6del rs2518777731
NM_003611.3(OFD1):c.400_403del (p.Glu134fs) rs312262830
NM_003611.3(OFD1):c.560dup (p.Tyr187Ter) rs1555902640
NM_003611.3(OFD1):c.565C>T (p.Gln189Ter) rs2047298129
NM_003611.3(OFD1):c.616_617del (p.Glu206fs) rs312262840
NM_003611.3(OFD1):c.710del (p.Lys237fs) rs312262845
NM_003611.3(OFD1):c.748G>T (p.Glu250Ter) rs1555902866
NM_003611.3(OFD1):c.794dup (p.Ser266fs) rs2047318775
NM_003611.3(OFD1):c.877_878del (p.Met293fs) rs312262858
NM_003611.3(OFD1):c.905_906del (p.Glu302fs) rs2146984250
NM_003611.3(OFD1):c.915_916del (p.Arg306fs) rs1569128307
NM_003611.3(OFD1):c.935+1G>C rs2518857883
NM_014704.4(CEP104):c.1082_1091del (p.Pro361fs) rs776094913
NM_014704.4(CEP104):c.157A>T (p.Arg53Ter)
NM_014704.4(CEP104):c.300_301del (p.Leu100_Cys101insTer) rs1484807480
NM_014704.4(CEP104):c.808A>T (p.Lys270Ter)
NM_015272.5(RPGRIP1L):c.1033C>T (p.Gln345Ter) rs121918202
NM_015272.5(RPGRIP1L):c.1052T>A (p.Leu351Ter) rs1968731636
NM_015272.5(RPGRIP1L):c.1072_1073dup (p.Leu358fs) rs1060501006
NM_015272.5(RPGRIP1L):c.1073dup (p.Leu358fs) rs1060501006
NM_015272.5(RPGRIP1L):c.1097_1098del (p.Leu365_Tyr366insTer) rs2544473384
NM_015272.5(RPGRIP1L):c.1120del (p.His374fs) rs878855006
NM_015272.5(RPGRIP1L):c.1132del (p.Trp378fs) rs863225217
NM_015272.5(RPGRIP1L):c.1134del (p.Gln377_Trp378insTer) rs2544400695
NM_015272.5(RPGRIP1L):c.1150C>T (p.Gln384Ter) rs1968112121
NM_015272.5(RPGRIP1L):c.1158del (p.Val387fs)
NM_015272.5(RPGRIP1L):c.1171C>T (p.Gln391Ter) rs2151198563
NM_015272.5(RPGRIP1L):c.1213G>T (p.Glu405Ter) rs747612183
NM_015272.5(RPGRIP1L):c.1217del (p.Ile406fs) rs2544398828
NM_015272.5(RPGRIP1L):c.1225A>T (p.Arg409Ter) rs2151198227
NM_015272.5(RPGRIP1L):c.1243+1G>A rs863225218
NM_015272.5(RPGRIP1L):c.1246C>T (p.Gln416Ter) rs1263265387
NM_015272.5(RPGRIP1L):c.1252G>T (p.Glu418Ter) rs1967512180
NM_015272.5(RPGRIP1L):c.1271del (p.Asn424fs) rs2544310470
NM_015272.5(RPGRIP1L):c.1278del (p.Glu426fs) rs1967510088
NM_015272.5(RPGRIP1L):c.1290_1291del (p.Tyr431fs) rs1381634873
NM_015272.5(RPGRIP1L):c.1326_1329del (p.Lys442fs) rs749987648
NM_015272.5(RPGRIP1L):c.132dup (p.Val45fs) rs2544754244
NM_015272.5(RPGRIP1L):c.1340del (p.Leu447fs) rs2544308444
NM_015272.5(RPGRIP1L):c.1403del (p.Ala468fs) rs2151157545
NM_015272.5(RPGRIP1L):c.1414_1417del (p.Gln472fs) rs2151157384
NM_015272.5(RPGRIP1L):c.1421del (p.Asn474fs) rs760952407
NM_015272.5(RPGRIP1L):c.1421dup (p.Asn474fs) rs760952407
NM_015272.5(RPGRIP1L):c.1445_1446dup (p.Val483fs) rs1231568634
NM_015272.5(RPGRIP1L):c.1464del (p.Asn488fs) rs1214012000
NM_015272.5(RPGRIP1L):c.1566_1569del (p.Asn523fs) rs2151156278
NM_015272.5(RPGRIP1L):c.1603del (p.Arg535fs) rs771264753
NM_015272.5(RPGRIP1L):c.1608_1614del (p.Met537fs) rs2151150644
NM_015272.5(RPGRIP1L):c.1641dup (p.Val548fs) rs749464264
NM_015272.5(RPGRIP1L):c.1649A>G (p.Gln550Arg) rs772900011
NM_015272.5(RPGRIP1L):c.1692del (p.Lys564fs) rs2544263394
NM_015272.5(RPGRIP1L):c.1708_1709insTT (p.Lys570fs) rs970695621
NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs) rs778149316
NM_015272.5(RPGRIP1L):c.170T>A (p.Leu57Ter) rs2151379380
NM_015272.5(RPGRIP1L):c.1732C>T (p.Gln578Ter) rs2544213172
NM_015272.5(RPGRIP1L):c.1745_1749del (p.Lys582fs) rs754766543
NM_015272.5(RPGRIP1L):c.1799T>G (p.Leu600Ter) rs1966902456
NM_015272.5(RPGRIP1L):c.1805del (p.Arg602fs)
NM_015272.5(RPGRIP1L):c.1873G>T (p.Gly625Ter) rs1156977888
NM_015272.5(RPGRIP1L):c.1914T>A (p.Tyr638Ter) rs1444726635
NM_015272.5(RPGRIP1L):c.1920dup (p.Glu641Ter) rs2151126581
NM_015272.5(RPGRIP1L):c.1951del (p.Leu651fs) rs2544207377
NM_015272.5(RPGRIP1L):c.1959del (p.Glu654fs) rs2151126163
NM_015272.5(RPGRIP1L):c.1978C>T (p.Gln660Ter) rs2151125946
NM_015272.5(RPGRIP1L):c.2003T>A (p.Leu668Ter) rs2544205707
NM_015272.5(RPGRIP1L):c.2009dup (p.Leu670fs) rs2544205607
NM_015272.5(RPGRIP1L):c.2018_2021dup (p.Gln674fs) rs2544205331
NM_015272.5(RPGRIP1L):c.2027del (p.Asn676fs) rs2151125463
NM_015272.5(RPGRIP1L):c.2092_2095del (p.Leu698fs) rs2544203421
NM_015272.5(RPGRIP1L):c.2104G>T (p.Glu702Ter) rs199975230
NM_015272.5(RPGRIP1L):c.2125C>T (p.Arg709Ter) rs1037406858
NM_015272.5(RPGRIP1L):c.2149_2152del (p.Ile717fs) rs763685772
NM_015272.5(RPGRIP1L):c.2201_2213del (p.Arg734fs) rs2544154688
NM_015272.5(RPGRIP1L):c.2221C>T (p.Gln741Ter) rs2544154546
NM_015272.5(RPGRIP1L):c.2223del (p.Ala742fs) rs2151102253
NM_015272.5(RPGRIP1L):c.2239C>T (p.Arg747Ter) rs767686118
NM_015272.5(RPGRIP1L):c.225dup (p.Lys76Ter) rs2544752143
NM_015272.5(RPGRIP1L):c.2262del (p.Tyr755fs) rs2544153711
NM_015272.5(RPGRIP1L):c.2288dup (p.Glu764fs) rs2544153133
NM_015272.5(RPGRIP1L):c.2303C>A (p.Ser768Ter) rs542206983
NM_015272.5(RPGRIP1L):c.2305-1G>C rs863225215
NM_015272.5(RPGRIP1L):c.231-2A>G rs2544710305
NM_015272.5(RPGRIP1L):c.2322del (p.Thr776fs) rs1253568005
NM_015272.5(RPGRIP1L):c.2332C>T (p.Gln778Ter) rs2544109431
NM_015272.5(RPGRIP1L):c.2335dup (p.Leu779fs)
NM_015272.5(RPGRIP1L):c.2354_2367delinsTTAC (p.Thr785fs) rs1966516920
NM_015272.5(RPGRIP1L):c.2397C>A (p.Cys799Ter) rs758547965
NM_015272.5(RPGRIP1L):c.2428C>T (p.Gln810Ter) rs2544106771
NM_015272.5(RPGRIP1L):c.2432del (p.Pro811fs) rs1966511029
NM_015272.5(RPGRIP1L):c.2435_2436dup (p.Pro813fs) rs1966510483
NM_015272.5(RPGRIP1L):c.2451C>A (p.Tyr817Ter) rs145807002
NM_015272.5(RPGRIP1L):c.2451C>G (p.Tyr817Ter) rs145807002
NM_015272.5(RPGRIP1L):c.2466del (p.Phe822fs) rs1966507642
NM_015272.5(RPGRIP1L):c.2493del (p.Ser832fs) rs746792129
NM_015272.5(RPGRIP1L):c.2560C>T (p.Arg854Ter) rs770291169
NM_015272.5(RPGRIP1L):c.2565C>A (p.Tyr855Ter) rs886052096
NM_015272.5(RPGRIP1L):c.2566del (p.Lys857fs) rs2544103122
NM_015272.5(RPGRIP1L):c.256_259del (p.Val86fs) rs751020468
NM_015272.5(RPGRIP1L):c.2573C>A (p.Ser858Ter) rs2544102925
NM_015272.5(RPGRIP1L):c.2576_2577del (p.Glu859fs) rs2544102829
NM_015272.5(RPGRIP1L):c.2591_2592del (p.Tyr864fs) rs772028612
NM_015272.5(RPGRIP1L):c.2643_2671del (p.Asn881fs) rs886041824
NM_015272.5(RPGRIP1L):c.269_273del (p.Lys90fs) rs2151353922
NM_015272.5(RPGRIP1L):c.2711del (p.Lys904fs) rs2151060082
NM_015272.5(RPGRIP1L):c.2715del (p.Pro906fs) rs2151060021
NM_015272.5(RPGRIP1L):c.2760C>A (p.Tyr920Ter) rs1966212821
NM_015272.5(RPGRIP1L):c.2816_2817del (p.Glu939fs) rs2544046250
NM_015272.5(RPGRIP1L):c.2851_2863del (p.Ser951fs) rs2544044964
NM_015272.5(RPGRIP1L):c.2855_2856del (p.Ser952fs) rs2151058791
NM_015272.5(RPGRIP1L):c.2920A>T (p.Lys974Ter) rs1353809695
NM_015272.5(RPGRIP1L):c.2939del (p.Ile980fs) rs1182447072
NM_015272.5(RPGRIP1L):c.2981_2982insCA (p.Arg995fs) rs2151040565
NM_015272.5(RPGRIP1L):c.2996C>G (p.Ser999Ter) rs770414663
NM_015272.5(RPGRIP1L):c.299del (p.Lys100fs) rs2544708386
NM_015272.5(RPGRIP1L):c.3067C>T (p.Gln1023Ter) rs1483413866
NM_015272.5(RPGRIP1L):c.3141_3144del (p.Ser1048fs) rs2543989370
NM_015272.5(RPGRIP1L):c.3160G>T (p.Glu1054Ter) rs987737814
NM_015272.5(RPGRIP1L):c.3208_3214del (p.Leu1070fs) rs776922546
NM_015272.5(RPGRIP1L):c.3257_3258del (p.Cys1086fs) rs2543966207
NM_015272.5(RPGRIP1L):c.325G>T (p.Glu109Ter) rs2544707873
NM_015272.5(RPGRIP1L):c.3277del (p.Ser1093fs) rs2543965279
NM_015272.5(RPGRIP1L):c.3299_3300dup (p.Ala1101fs) rs797045104
NM_015272.5(RPGRIP1L):c.3380del (p.Pro1127fs) rs1341026212
NM_015272.5(RPGRIP1L):c.3430C>T (p.Gln1144Ter) rs1050777749
NM_015272.5(RPGRIP1L):c.3445dup (p.Ile1149fs) rs2543791714
NM_015272.5(RPGRIP1L):c.3457del (p.Ile1153fs) rs2543791417
NM_015272.5(RPGRIP1L):c.3461dup (p.Ala1155fs) rs1964561986
NM_015272.5(RPGRIP1L):c.3558_3559del (p.Pro1187fs) rs1200131247
NM_015272.5(RPGRIP1L):c.3558_3559dup (p.Pro1187fs) rs1200131247
NM_015272.5(RPGRIP1L):c.3593G>A (p.Trp1198Ter) rs1598241401
NM_015272.5(RPGRIP1L):c.3605_3608del (p.Asn1202fs) rs2150964195
NM_015272.5(RPGRIP1L):c.3607del (p.Tyr1203fs) rs2150964205
NM_015272.5(RPGRIP1L):c.360_388dup (p.Lys130fs) rs2151352672
NM_015272.5(RPGRIP1L):c.3628dup (p.Asp1210fs) rs2150938444
NM_015272.5(RPGRIP1L):c.3647_3651del (p.Ala1216fs) rs1964001995
NM_015272.5(RPGRIP1L):c.3655_3658dup (p.Ile1220fs) rs2543721040
NM_015272.5(RPGRIP1L):c.3682C>T (p.Gln1228Ter) rs1964000214
NM_015272.5(RPGRIP1L):c.377_378insGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAAACAAAA (p.Asn126fs)
NM_015272.5(RPGRIP1L):c.377del (p.Asn126fs) rs2544706912
NM_015272.5(RPGRIP1L):c.394A>T (p.Arg132Ter) rs121918201
NM_015272.5(RPGRIP1L):c.414del (p.Gln138fs) rs2544706126
NM_015272.5(RPGRIP1L):c.421C>T (p.Gln141Ter) rs2151352275
NM_015272.5(RPGRIP1L):c.427C>T (p.Gln143Ter) rs1970430433
NM_015272.5(RPGRIP1L):c.496G>T (p.Glu166Ter) rs2151351169
NM_015272.5(RPGRIP1L):c.511C>T (p.Gln171Ter) rs866067386
NM_015272.5(RPGRIP1L):c.528del (p.Gly177fs) rs1970421631
NM_015272.5(RPGRIP1L):c.550_551insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATTCCAAGATGCAG (p.Asp184delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer) rs2151325681
NM_015272.5(RPGRIP1L):c.591_598del (p.Asn198fs) rs1970132052
NM_015272.5(RPGRIP1L):c.591del (p.Asn198fs) rs1283508618
NM_015272.5(RPGRIP1L):c.616G>T (p.Gly206Ter) rs2544658236
NM_015272.5(RPGRIP1L):c.632T>A (p.Leu211Ter) rs1970129424
NM_015272.5(RPGRIP1L):c.647del (p.Gln216fs) rs2544640942
NM_015272.5(RPGRIP1L):c.659del (p.Gly220fs) rs2544640636
NM_015272.5(RPGRIP1L):c.65_66dup (p.Gly23fs) rs1567902051
NM_015272.5(RPGRIP1L):c.663_664dup (p.Ile222fs) rs2151318273
NM_015272.5(RPGRIP1L):c.676G>T (p.Glu226Ter) rs2151318201
NM_015272.5(RPGRIP1L):c.707T>A (p.Leu236Ter) rs1970024714
NM_015272.5(RPGRIP1L):c.712del (p.Arg238fs) rs2151317974
NM_015272.5(RPGRIP1L):c.723_726del (p.Asn241fs) rs386833998
NM_015272.5(RPGRIP1L):c.734T>G (p.Leu245Ter) rs2544638776
NM_015272.5(RPGRIP1L):c.745C>T (p.Gln249Ter) rs1970021137
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter) rs121918199
NM_015272.5(RPGRIP1L):c.772C>T (p.Gln258Ter) rs1970017927
NM_015272.5(RPGRIP1L):c.779C>G (p.Ser260Ter) rs199885005
NM_015272.5(RPGRIP1L):c.839del (p.Asn280fs) rs2544514428
NM_015272.5(RPGRIP1L):c.883_884insT (p.Lys295fs) rs2544492460
NM_015272.5(RPGRIP1L):c.899_900del (p.Arg300fs)
NM_015272.5(RPGRIP1L):c.946C>T (p.Gln316Ter) rs1598375579
NM_015272.5(RPGRIP1L):c.950_951del (p.Leu317fs) rs2151245549
NM_015272.5(RPGRIP1L):c.952A>T (p.Lys318Ter) rs2544491095
NM_015272.5(RPGRIP1L):c.972del (p.Cys325fs) rs757594906
NM_015272.5(RPGRIP1L):c.986_987del (p.Lys329fs) rs1470967742
NM_015272.5(RPGRIP1L):c.988C>T (p.Gln330Ter) rs771058410
NM_015631.6(TCTN3):c.1164dup (p.Lys389fs) rs763557318
NM_015631.6(TCTN3):c.1206dup (p.Thr403fs) rs2492743120
NM_015631.6(TCTN3):c.1226del (p.Gly409fs) rs747710152
NM_015631.6(TCTN3):c.1348_1349del (p.Leu450fs) rs768525869
NM_015631.6(TCTN3):c.1367_1370dup (p.Glu457fs) rs2492740075
NM_015631.6(TCTN3):c.1423_1429del (p.Arg475fs) rs1589613893
NM_015631.6(TCTN3):c.182dup (p.Gly62fs) rs763132585
NM_015631.6(TCTN3):c.1A>G (p.Met1Val) rs1046385111
NM_015631.6(TCTN3):c.276_277del (p.Cys92_Asp93delinsTer) rs553175533
NM_015631.6(TCTN3):c.28C>T (p.Gln10Ter) rs1262446492
NM_015631.6(TCTN3):c.2T>A (p.Met1Lys) rs373479905
NM_015631.6(TCTN3):c.2T>C (p.Met1Thr) rs373479905
NM_015631.6(TCTN3):c.338_341del (p.His113fs) rs761798713
NM_015631.6(TCTN3):c.371_372del (p.Gly124fs) rs2492790282
NM_015631.6(TCTN3):c.412_413del (p.Val138fs) rs2097955017
NM_015631.6(TCTN3):c.63dup (p.Pro22fs)
NM_015631.6(TCTN3):c.650_653del (p.Tyr217fs) rs749018985
NM_015631.6(TCTN3):c.710del (p.Gly237fs) rs779729881
NM_015631.6(TCTN3):c.717_718del (p.Cys239_Ala240insTer) rs1276774121
NM_015631.6(TCTN3):c.737_738insC (p.Leu248fs) rs2492761413
NM_015631.6(TCTN3):c.754del (p.Ser252fs) rs2139749042
NM_015631.6(TCTN3):c.776dup (p.Lys260fs) rs750644251
NM_015631.6(TCTN3):c.851dup (p.Val285fs) rs1202783767
NM_015631.6(TCTN3):c.908_911del (p.Leu303fs) rs2139744863
NM_015631.6(TCTN3):c.910dup (p.Thr304fs) rs1157302392
NM_015631.6(TCTN3):c.920_941del (p.Ala307fs) rs2492753291
NM_015681.6(B9D1):c.19del (p.Ser7fs)
NM_015681.6(B9D1):c.391C>T (p.Gln131Ter) rs1462645325
NM_015681.6(B9D1):c.460G>T (p.Glu154Ter) rs1908307291
NM_016464.5(TMEM138):c.287A>G (p.His96Arg) rs387907132
NM_016464.5(TMEM138):c.293G>A (p.Trp98Ter)
NM_016464.5(TMEM138):c.311G>A (p.Trp104Ter) rs2135163033
NM_016464.5(TMEM138):c.83del (p.Phe27_Ser28insTer) rs2135153244
NM_017777.4(MKS1):c.1024+1G>T rs199874059
NM_017777.4(MKS1):c.1028G>A (p.Trp343Ter) rs567026924
NM_017777.4(MKS1):c.1058del (p.Gly353fs) rs2509416584
NM_017777.4(MKS1):c.1071del (p.Cys358fs) rs762377424
NM_017777.4(MKS1):c.1074C>A (p.Cys358Ter) rs1411471923
NM_017777.4(MKS1):c.1090dup (p.Ala364fs) rs2509416195
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017777.4(MKS1):c.111dup (p.Phe38fs) rs1382382001
NM_017777.4(MKS1):c.1126dup (p.Thr376fs) rs2143753386
NM_017777.4(MKS1):c.114dup (p.Leu39fs) rs2509466085
NM_017777.4(MKS1):c.1158del (p.Glu386fs) rs2509413100
NM_017777.4(MKS1):c.119_126dup (p.Pro43fs) rs2509465988
NM_017777.4(MKS1):c.1204_1208dup (p.Leu404fs) rs2143751393
NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter) rs781423785
NM_017777.4(MKS1):c.124C>T (p.Gln42Ter) rs1969405671
NM_017777.4(MKS1):c.1301G>A (p.Trp434Ter) rs2143744476
NM_017777.4(MKS1):c.1365del (p.Glu455fs) rs1567795267
NM_017777.4(MKS1):c.136G>T (p.Glu46Ter) rs183617764
NM_017777.4(MKS1):c.1387C>G (p.Arg463Gly) rs766392300
NM_017777.4(MKS1):c.1394del (p.Pro465fs) rs865870355
NM_017777.4(MKS1):c.1408-1dup rs762668200
NM_017777.4(MKS1):c.1408-34_1408-6del rs386834043
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs) rs386834044
NM_017777.4(MKS1):c.1480C>T (p.Gln494Ter) rs2509403624
NM_017777.4(MKS1):c.1483C>T (p.Gln495Ter) rs2143737457
NM_017777.4(MKS1):c.1532_1533insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAAGGATGCGGAG (p.Ser511fs) rs2509402628
NM_017777.4(MKS1):c.156dup (p.Asp53fs)
NM_017777.4(MKS1):c.161T>A (p.Leu54Ter) rs2143838681
NM_017777.4(MKS1):c.17G>A (p.Trp6Ter) rs2509469673
NM_017777.4(MKS1):c.184_190del (p.Thr62fs) rs386834046
NM_017777.4(MKS1):c.203del (p.Pro68fs) rs2509457712
NM_017777.4(MKS1):c.205G>T (p.Glu69Ter) rs2509457683
NM_017777.4(MKS1):c.233T>G (p.Ile78Ser) rs786204222
NM_017777.4(MKS1):c.240G>A (p.Trp80Ter) rs1114167302
NM_017777.4(MKS1):c.297T>A (p.Cys99Ter) rs2509455117
NM_017777.4(MKS1):c.2T>A (p.Met1Lys) rs1364950881
NM_017777.4(MKS1):c.2T>C (p.Met1Thr) rs1364950881
NM_017777.4(MKS1):c.301_302dup (p.Ser101fs) rs2509455112
NM_017777.4(MKS1):c.34G>T (p.Glu12Ter) rs1183365510
NM_017777.4(MKS1):c.384C>A (p.Tyr128Ter) rs1036618109
NM_017777.4(MKS1):c.392_393del (p.Asp130_Ser131insTer) rs386834047
NM_017777.4(MKS1):c.417+1G>A rs756368560
NM_017777.4(MKS1):c.417+1G>T rs756368560
NM_017777.4(MKS1):c.469G>T (p.Glu157Ter) rs200970148
NM_017777.4(MKS1):c.492_497del (p.Arg165_Arg166del) rs2509447942
NM_017777.4(MKS1):c.499C>T (p.Gln167Ter) rs1215189491
NM_017777.4(MKS1):c.517G>T (p.Glu173Ter) rs1969067636
NM_017777.4(MKS1):c.55G>T (p.Asp19Tyr) rs863225205
NM_017777.4(MKS1):c.564_565insTTCT (p.Glu189delinsPheTer) rs1969063562
NM_017777.4(MKS1):c.633del (p.Tyr213fs) rs1567803107
NM_017777.4(MKS1):c.639T>A (p.Tyr213Ter) rs746647549
NM_017777.4(MKS1):c.645-2A>T rs773036963
NM_017777.4(MKS1):c.658A>T (p.Lys220Ter) rs2143800757
NM_017777.4(MKS1):c.663T>G (p.Tyr221Ter) rs1597993685
NM_017777.4(MKS1):c.805dup (p.Ser269fs) rs1320893771
NM_017777.4(MKS1):c.811del (p.His271fs) rs1968969593
NM_017777.4(MKS1):c.811dup (p.His271fs) rs1968969593
NM_017777.4(MKS1):c.812dup (p.His271fs) rs1567801728
NM_017777.4(MKS1):c.81_82del rs2509466317
NM_017777.4(MKS1):c.829G>T (p.Glu277Ter) rs1555599412
NM_017777.4(MKS1):c.884_885del (p.Leu295fs)
NM_017777.4(MKS1):c.909del (p.Phe303fs)
NM_017777.4(MKS1):c.918del (p.Val307fs) rs2143778074
NM_017777.4(MKS1):c.925_926insTCTAA (p.Gly309delinsValTer) rs2143777988
NM_017777.4(MKS1):c.94del (p.Arg32fs) rs1969409341
NM_017777.4(MKS1):c.959-5C>A rs765242131
NM_017777.4(MKS1):c.990del (p.Tyr331fs)
NM_018718.3(CEP41):c.156del (p.Arg51_Tyr52insTer)
NM_018718.3(CEP41):c.423-2A>C rs781815473
NM_018718.3(CEP41):c.423-2A>G rs781815473
NM_018718.3(CEP41):c.477del (p.Glu160fs) rs2536060147
NM_018718.3(CEP41):c.542_545del (p.Arg181fs)
NM_018718.3(CEP41):c.55C>T (p.Gln19Ter)
NM_018718.3(CEP41):c.7del (p.Leu3fs) rs1798139951
NM_018718.3(CEP41):c.880del (p.Leu294fs) rs782180322
NM_019892.6(INPP5E):c.1103del (p.His368fs) rs2538878393
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys) rs121918130
NM_019892.6(INPP5E):c.1253_1256del (p.Phe418fs) rs2131608672
NM_019892.6(INPP5E):c.1324_1327dup (p.Val443fs) rs2538876012
NM_019892.6(INPP5E):c.1367A>C (p.Asn456Thr) rs2131607846
NM_019892.6(INPP5E):c.1426G>A (p.Gly476Arg)
NM_019892.6(INPP5E):c.15_16del (p.Asn7fs) rs2131620438
NM_019892.6(INPP5E):c.166del (p.Ala56fs) rs2131619961
NM_019892.6(INPP5E):c.1726T>G (p.Cys576Gly) rs2131604859
NM_019892.6(INPP5E):c.1761_1763dup (p.Tyr588Ter) rs2538870740
NM_019892.6(INPP5E):c.1795C>T (p.Arg599Ter) rs1191043398
NM_019892.6(INPP5E):c.1844T>G (p.Leu615Ter) rs1564430716
NM_019892.6(INPP5E):c.1888C>T (p.Gln630Ter) rs2538869652
NM_019892.6(INPP5E):c.1922del (p.Cys641fs) rs1431917892
NM_019892.6(INPP5E):c.2_10del (p.Met1_Ser3del) rs2131620472
NM_019892.6(INPP5E):c.473del (p.Gly158fs) rs779450345
NM_019892.6(INPP5E):c.473dup (p.Gly158_Asn159insTer) rs779450345
NM_019892.6(INPP5E):c.748del (p.Leu250fs) rs1346748926
NM_019892.6(INPP5E):c.781dup (p.Ala261fs) rs1835894708
NM_019892.6(INPP5E):c.925C>T (p.Gln309Ter) rs568204894
NM_019892.6(INPP5E):c.931C>T (p.Gln311Ter) rs2131611242
NM_024809.5(TCTN2):c.1250_1251del (p.Arg417fs) rs2135847212
NM_024809.5(TCTN2):c.1317C>G (p.Tyr439Ter) rs1196281944
NM_024809.5(TCTN2):c.1329del (p.Lys443fs) rs2541792114
NM_024809.5(TCTN2):c.1385G>A (p.Trp462Ter)
NM_024809.5(TCTN2):c.1743_1744delinsTT (p.Gln581_Gln582delinsHisTer) rs2541806985
NM_024809.5(TCTN2):c.184G>T (p.Glu62Ter) rs774994149
NM_024809.5(TCTN2):c.1873C>T (p.Gln625Ter) rs863225426
NM_024809.5(TCTN2):c.1873_1874del (p.Gln625fs) rs1025526121
NM_024809.5(TCTN2):c.487C>T (p.Gln163Ter) rs1306876740
NM_024809.5(TCTN2):c.524dup (p.Leu175fs) rs760034947
NM_024809.5(TCTN2):c.573del (p.Ser192fs) rs2135834102
NM_024809.5(TCTN2):c.72G>A (p.Trp24Ter) rs1955746650
NM_024809.5(TCTN2):c.800_801del (p.Val267fs) rs754048525
NM_024809.5(TCTN2):c.898del (p.Leu300fs) rs924674737
NM_024809.5(TCTN2):c.916C>T (p.Gln306Ter)
NM_024809.5(TCTN2):c.964dup (p.Thr322fs) rs746186338
NM_025114.3(CEP290):c.4438-318_7243del
NM_025114.4(CEP290):c.-8_2del (p.Met1fs) rs2040644607
NM_025114.4(CEP290):c.1006dup (p.Glu336fs) rs2501333823
NM_025114.4(CEP290):c.1024C>T (p.Gln342Ter)
NM_025114.4(CEP290):c.1039A>T (p.Lys347Ter) rs1411950710
NM_025114.4(CEP290):c.1060C>T (p.Gln354Ter) rs2138021345
NM_025114.4(CEP290):c.106G>T (p.Glu36Ter) rs868347260
NM_025114.4(CEP290):c.1096del (p.Met366fs) rs2501278271
NM_025114.4(CEP290):c.1163T>A (p.Leu388Ter) rs2501272074
NM_025114.4(CEP290):c.1165A>T (p.Lys389Ter) rs2138000998
NM_025114.4(CEP290):c.1189+1G>A rs2039659434
NM_025114.4(CEP290):c.1189+2T>C rs2501269442
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs) rs386834148
NM_025114.4(CEP290):c.1225del (p.Ile409fs) rs1287628446
NM_025114.4(CEP290):c.1232C>G (p.Ser411Ter) rs2501098066
NM_025114.4(CEP290):c.1247T>G (p.Leu416Ter) rs1269182131
NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs) rs897997464
NM_025114.4(CEP290):c.1258dup (p.Thr420fs) rs868650061
NM_025114.4(CEP290):c.1273del (p.Arg425fs) rs2501093691
NM_025114.4(CEP290):c.1296_1299dup (p.Ala434Ter) rs2501090110
NM_025114.4(CEP290):c.1318G>T (p.Glu440Ter) rs2137917114
NM_025114.4(CEP290):c.1338del (p.Arg447fs) rs2039364798
NM_025114.4(CEP290):c.133del (p.Gln45fs) rs2501852178
NM_025114.4(CEP290):c.1347dup (p.Asp450fs) rs774490795
NM_025114.4(CEP290):c.1390G>T (p.Glu464Ter) rs1437841365
NM_025114.4(CEP290):c.1393del (p.Glu464_Ile465insTer) rs2039321844
NM_025114.4(CEP290):c.1400del (p.Asn467fs) rs2137903965
NM_025114.4(CEP290):c.1405A>T (p.Lys469Ter) rs1361189290
NM_025114.4(CEP290):c.1419_1423del (p.Ile474fs) rs771266705
NM_025114.4(CEP290):c.1435_1436del (p.Glu478_Ile479insTer) rs1366385653
NM_025114.4(CEP290):c.143_144dup (p.Ile49Ter)
NM_025114.4(CEP290):c.1451del (p.Lys484fs) rs386834149
NM_025114.4(CEP290):c.1480del (p.Ser494fs) rs2501040632
NM_025114.4(CEP290):c.1512_1515del (p.Arg504fs) rs886043303
NM_025114.4(CEP290):c.1514_1515del (p.Glu505fs) rs886043303
NM_025114.4(CEP290):c.1518dup (p.Val507fs) rs2501035387
NM_025114.4(CEP290):c.1550dup (p.Leu517fs) rs62640579
NM_025114.4(CEP290):c.1585C>T (p.Gln529Ter) rs1325063481
NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter) rs1465414886
NM_025114.4(CEP290):c.1616del (p.Leu538_Leu539insTer) rs1346690922
NM_025114.4(CEP290):c.1627G>T (p.Glu543Ter) rs1186821575
NM_025114.4(CEP290):c.164_167del (p.Thr55fs) rs758550675
NM_025114.4(CEP290):c.1665_1666del (p.Lys555fs) rs727503855
NM_025114.4(CEP290):c.1666del (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.1666dup (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.1668del (p.Arg557fs) rs2039204524
NM_025114.4(CEP290):c.166C>T (p.Gln56Ter) rs1592706963
NM_025114.4(CEP290):c.1675del (p.Met559fs) rs2137868361
NM_025114.4(CEP290):c.167dup (p.Ser57fs) rs2138297703
NM_025114.4(CEP290):c.1681C>T (p.Gln561Ter) rs1475139450
NM_025114.4(CEP290):c.1709C>G (p.Ser570Ter) rs1272411609
NM_025114.4(CEP290):c.1711+2T>A rs2500935910
NM_025114.4(CEP290):c.1750del (p.Ser584fs) rs780954447
NM_025114.4(CEP290):c.1753C>T (p.Gln585Ter) rs867094910
NM_025114.4(CEP290):c.1790T>A (p.Leu597Ter) rs2500867184
NM_025114.4(CEP290):c.1790_1805del (p.Leu596_Leu597insTer) rs2500866434
NM_025114.4(CEP290):c.1798A>T (p.Lys600Ter) rs2137836218
NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025114.4(CEP290):c.1802del (p.Asn601fs) rs2500866580
NM_025114.4(CEP290):c.1805del (p.Met602fs) rs2500866381
NM_025114.4(CEP290):c.180G>A (p.Lys60=) rs2501849042
NM_025114.4(CEP290):c.1816C>T (p.Gln606Ter) rs2500865968
NM_025114.4(CEP290):c.1818del (p.Gln606fs)
NM_025114.4(CEP290):c.1820C>A (p.Ser607Ter)
NM_025114.4(CEP290):c.1830del (p.Glu610fs) rs992032116
NM_025114.4(CEP290):c.1844_1845dup (p.Leu616fs) rs2500829029
NM_025114.4(CEP290):c.1858G>T (p.Glu620Ter) rs1203763812
NM_025114.4(CEP290):c.1860_1861del (p.Asp622fs) rs386834151
NM_025114.4(CEP290):c.1860_1863del (p.Arg621fs) rs766608755
NM_025114.4(CEP290):c.1864_1865del (p.Asp622fs) rs1033594764
NM_025114.4(CEP290):c.190C>T (p.Gln64Ter) rs1166981120
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter) rs1555220625
NM_025114.4(CEP290):c.1987A>T (p.Lys663Ter) rs2038919221
NM_025114.4(CEP290):c.1989dup (p.Asp664fs) rs2500814936
NM_025114.4(CEP290):c.1A>G (p.Met1Val) rs2040644756
NM_025114.4(CEP290):c.2047_2050del (p.Val683fs) rs2500813302
NM_025114.4(CEP290):c.2052+1_2052+2del rs747835249
NM_025114.4(CEP290):c.20G>A (p.Trp7Ter)
NM_025114.4(CEP290):c.2112del (p.Val705fs) rs863225183
NM_025114.4(CEP290):c.2119_2123dup (p.Thr709fs) rs62640580
NM_025114.4(CEP290):c.2140G>T (p.Glu714Ter) rs1440259390
NM_025114.4(CEP290):c.2144T>G (p.Leu715Ter) rs1231122388
NM_025114.4(CEP290):c.2149C>T (p.Gln717Ter) rs2500763272
NM_025114.4(CEP290):c.214G>T (p.Glu72Ter) rs1292246271
NM_025114.4(CEP290):c.2191C>T (p.Gln731Ter) rs767250881
NM_025114.4(CEP290):c.2194C>T (p.Gln732Ter) rs1438792443
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys) rs62635288
NM_025114.4(CEP290):c.2213del (p.Asn737_Leu738insTer) rs2137720951
NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter) rs753884599
NM_025114.4(CEP290):c.2254C>T (p.Gln752Ter) rs2137711696
NM_025114.4(CEP290):c.2258C>A (p.Ser753Ter) rs2500744133
NM_025114.4(CEP290):c.2268_2284del (p.Asn757_Val758insTer) rs2500742395
NM_025114.4(CEP290):c.226_227insA (p.Ala76fs)
NM_025114.4(CEP290):c.2340_2341del (p.Gln780_Asn781insTer) rs1382701532
NM_025114.4(CEP290):c.2368-1G>T rs2137665576
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_025114.4(CEP290):c.2406del (p.Asp803fs) rs2500683218
NM_025114.4(CEP290):c.2433del (p.Lys811fs) rs2137663442
NM_025114.4(CEP290):c.2455C>T (p.Gln819Ter) rs2137662565
NM_025114.4(CEP290):c.2484-2A>C rs1555217024
NM_025114.4(CEP290):c.2497del (p.Trp833fs) rs2137624524
NM_025114.4(CEP290):c.2499G>A (p.Trp833Ter) rs2137624440
NM_025114.4(CEP290):c.250+2T>G
NM_025114.4(CEP290):c.2506_2507del (p.Glu836fs) rs1223251937
NM_025114.4(CEP290):c.2510del (p.Ser837fs) rs1345613057
NM_025114.4(CEP290):c.254del (p.Asn85fs) rs2138259100
NM_025114.4(CEP290):c.254dup (p.Asn85fs) rs2138259100
NM_025114.4(CEP290):c.2554C>T (p.Gln852Ter) rs886038694
NM_025114.4(CEP290):c.2557C>T (p.Gln853Ter) rs2038335853
NM_025114.4(CEP290):c.2567dup (p.Val858fs) rs2500628699
NM_025114.4(CEP290):c.256_259del (p.Asn85_Gln86insTer) rs2138258864
NM_025114.4(CEP290):c.2571del (p.Lys857_Val858insTer) rs2500628432
NM_025114.4(CEP290):c.2578G>T (p.Glu860Ter) rs2500627820
NM_025114.4(CEP290):c.2587-1G>A rs1247861318
NM_025114.4(CEP290):c.2587-1G>T rs1247861318
NM_025114.4(CEP290):c.2587-2A>G
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs) rs1221464366
NM_025114.4(CEP290):c.2615C>A (p.Ser872Ter) rs373341530
NM_025114.4(CEP290):c.2632del (p.Ile878fs) rs1404507934
NM_025114.4(CEP290):c.2668C>T (p.Gln890Ter) rs886044332
NM_025114.4(CEP290):c.2668del (p.Gln890fs) rs2500620311
NM_025114.4(CEP290):c.2682del (p.Lys894fs) rs1555216730
NM_025114.4(CEP290):c.2689dup (p.Ile897fs) rs2500619029
NM_025114.4(CEP290):c.2695C>T (p.Gln899Ter) rs2500618622
NM_025114.4(CEP290):c.270_274del (p.Lys90fs) rs1027368517
NM_025114.4(CEP290):c.272_276del (p.Val91fs) rs2040498071
NM_025114.4(CEP290):c.2732_2735del (p.Arg911fs) rs2137614623
NM_025114.4(CEP290):c.2737G>T (p.Glu913Ter) rs2500616179
NM_025114.4(CEP290):c.2746A>T (p.Lys916Ter) rs2500615773
NM_025114.4(CEP290):c.274_280del (p.Met92fs) rs2138258171
NM_025114.4(CEP290):c.2794dup (p.Ile932fs) rs2500613493
NM_025114.4(CEP290):c.2801_2802del (p.Cys934fs) rs2500613030
NM_025114.4(CEP290):c.2865_2866del (p.Asn955fs)
NM_025114.4(CEP290):c.2887G>T (p.Glu963Ter) rs1180594304
NM_025114.4(CEP290):c.2902C>T (p.Gln968Ter) rs1592574519
NM_025114.4(CEP290):c.2911G>T (p.Glu971Ter) rs780805963
NM_025114.4(CEP290):c.292_293insA (p.Leu98fs) rs2040497202
NM_025114.4(CEP290):c.2933del (p.Asp978fs) rs2500524863
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter) rs1057518822
NM_025114.4(CEP290):c.2958del (p.Val987fs) rs2500523689
NM_025114.4(CEP290):c.297+1G>A rs878853360
NM_025114.4(CEP290):c.297+1G>C rs878853360
NM_025114.4(CEP290):c.297+1del rs2138257533
NM_025114.4(CEP290):c.3012del (p.Glu1005fs) rs1555213204
NM_025114.4(CEP290):c.3013G>T (p.Glu1005Ter) rs2037478393
NM_025114.4(CEP290):c.3022G>T (p.Glu1008Ter) rs2037477197
NM_025114.4(CEP290):c.3023_3024insCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAACAAGTGGA (p.Glu1008delinsAspLeuTer) rs2137425453
NM_025114.4(CEP290):c.3150dup (p.Asp1051Ter) rs2137368561
NM_025114.4(CEP290):c.3175del (p.Lys1058_Ile1059insTer) rs62640570
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs) rs62640570
NM_025114.4(CEP290):c.3176del (p.Ile1059fs) rs863225184
NM_025114.4(CEP290):c.3178_3181del (p.Thr1060fs) rs1450189463
NM_025114.4(CEP290):c.3181_3182del (p.Met1061fs) rs878853362
NM_025114.4(CEP290):c.3205G>T (p.Glu1069Ter) rs2137365958
NM_025114.4(CEP290):c.3205_3206delinsTG (p.Glu1069Ter) rs1555212150
NM_025114.4(CEP290):c.3212dup (p.Arg1072fs) rs778407127
NM_025114.4(CEP290):c.3240T>A (p.Tyr1080Ter) rs886042467
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter) rs886042467
NM_025114.4(CEP290):c.3249_3250insAA (p.Arg1084fs) rs2037226237
NM_025114.4(CEP290):c.3249dup (p.Arg1084fs) rs2037226237
NM_025114.4(CEP290):c.3265C>T (p.Gln1089Ter) rs2500271417
NM_025114.4(CEP290):c.3285del (p.Phe1095fs) rs1017496924
NM_025114.4(CEP290):c.3286G>T (p.Glu1096Ter) rs2500270196
NM_025114.4(CEP290):c.3309G>A (p.Glu1103=) rs2500269301
NM_025114.4(CEP290):c.3310-1_3310delinsAA rs2037150824
NM_025114.4(CEP290):c.3310-2A>G rs2137345150
NM_025114.4(CEP290):c.3334C>T (p.Gln1112Ter) rs2137344539
NM_025114.4(CEP290):c.338T>A (p.Leu113Ter) rs2040373653
NM_025114.4(CEP290):c.3390_3393del (p.Ser1131fs) rs2137342973
NM_025114.4(CEP290):c.3418G>T (p.Glu1140Ter) rs766095901
NM_025114.4(CEP290):c.3422dup (p.Leu1141fs) rs770474857
NM_025114.4(CEP290):c.3451G>T (p.Glu1151Ter) rs2500228774
NM_025114.4(CEP290):c.3488_3494dup (p.Val1166fs) rs2036977719
NM_025114.4(CEP290):c.3493C>T (p.Gln1165Ter) rs2036977924
NM_025114.4(CEP290):c.3514C>T (p.Gln1172Ter) rs2036975289
NM_025114.4(CEP290):c.3520C>T (p.Gln1174Ter) rs2036974151
NM_025114.4(CEP290):c.3533del (p.Lys1178fs) rs2036971853
NM_025114.4(CEP290):c.355C>T (p.Gln119Ter) rs2138215835
NM_025114.4(CEP290):c.3571C>T (p.Gln1191Ter) rs2500156012
NM_025114.4(CEP290):c.3573+1G>A rs1339320666
NM_025114.4(CEP290):c.3573+1G>C rs1339320666
NM_025114.4(CEP290):c.3573+1G>T rs1339320666
NM_025114.4(CEP290):c.3573+1del rs2137301783
NM_025114.4(CEP290):c.3577C>T (p.Gln1193Ter) rs2500121621
NM_025114.4(CEP290):c.3593C>A (p.Ser1198Ter) rs372640024
NM_025114.4(CEP290):c.361G>T (p.Glu121Ter) rs2138215714
NM_025114.4(CEP290):c.3633_3637del (p.Gln1211_Leu1212insTer) rs2137279498
NM_025114.4(CEP290):c.3643_3652del (p.Ala1215fs) rs2500117363
NM_025114.4(CEP290):c.367C>T (p.Gln123Ter) rs770126103
NM_025114.4(CEP290):c.369del (p.Gln123fs) rs773622064
NM_025114.4(CEP290):c.3721A>T (p.Lys1241Ter) rs2500113822
NM_025114.4(CEP290):c.3730G>T (p.Glu1244Ter) rs2137277291
NM_025114.4(CEP290):c.3738del (p.Glu1246fs) rs2500112677
NM_025114.4(CEP290):c.3741_3752dup (p.Tyr1251Ter) rs2500111542
NM_025114.4(CEP290):c.3745_3748del (p.Leu1249fs) rs2137276301
NM_025114.4(CEP290):c.3761dup (p.Leu1254fs) rs750520052
NM_025114.4(CEP290):c.3777_3778del (p.Arg1259fs) rs765483163
NM_025114.4(CEP290):c.3783del (p.Lys1261fs) rs2036833257
NM_025114.4(CEP290):c.3786_3798del (p.His1262fs) rs2500108418
NM_025114.4(CEP290):c.3803del (p.Gln1268fs) rs2036830890
NM_025114.4(CEP290):c.3808_3809del (p.Leu1270fs) rs1565846034
NM_025114.4(CEP290):c.3847C>T (p.Gln1283Ter) rs2036824785
NM_025114.4(CEP290):c.384_385del (p.Asp128fs) rs1288619268
NM_025114.4(CEP290):c.384_387del (p.Asp128fs) rs386834157
NM_025114.4(CEP290):c.3884dup (p.Asn1295fs) rs1381090737
NM_025114.4(CEP290):c.3894dup (p.Lys1299Ter) rs761907569
NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter) rs587783016
NM_025114.4(CEP290):c.3911_3915del (p.Met1304fs) rs2500101115
NM_025114.4(CEP290):c.3917del (p.Asn1306fs) rs2036817502
NM_025114.4(CEP290):c.3934A>T (p.Arg1312Ter) rs774705706
NM_025114.4(CEP290):c.3956del (p.Leu1319fs) rs2137269723
NM_025114.4(CEP290):c.3982del (p.Leu1328fs)
NM_025114.4(CEP290):c.3988G>T (p.Glu1330Ter) rs1285349002
NM_025114.4(CEP290):c.3992T>A (p.Leu1331Ter) rs2500096910
NM_025114.4(CEP290):c.4028del (p.Lys1343fs) rs1213286417
NM_025114.4(CEP290):c.4033del (p.Ile1345fs) rs771939468
NM_025114.4(CEP290):c.4040G>A (p.Trp1347Ter) rs1339975972
NM_025114.4(CEP290):c.4057G>T (p.Glu1353Ter) rs2500066079
NM_025114.4(CEP290):c.4069C>T (p.Gln1357Ter) rs2500065308
NM_025114.4(CEP290):c.4076_4077del (p.Leu1359fs) rs2500065047
NM_025114.4(CEP290):c.4078_4081del (p.Leu1359_Lys1360insTer) rs2036717675
NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter) rs779645669
NM_025114.4(CEP290):c.4096_4099del (p.Val1366fs) rs1308598847
NM_025114.4(CEP290):c.4115_4116del (p.Ile1372fs) rs62640582
NM_025114.4(CEP290):c.4115_4118del (p.Ile1372fs) rs2500060832
NM_025114.4(CEP290):c.4121del (p.Tyr1374fs) rs2500060504
NM_025114.4(CEP290):c.4124T>A (p.Leu1375Ter) rs2500060132
NM_025114.4(CEP290):c.4133_4134del (p.Ile1378fs) rs2036712105
NM_025114.4(CEP290):c.4160_4164delinsATGAACGTACATAATTTCTGAATATGAA (p.Ser1387_Ser1388delinsAsnGluArgThrTer) rs2137248487
NM_025114.4(CEP290):c.4186C>T (p.Gln1396Ter) rs1459653241
NM_025114.4(CEP290):c.4195-1G>T rs751807811
NM_025114.4(CEP290):c.4201G>T (p.Glu1401Ter) rs2500019381
NM_025114.4(CEP290):c.420del (p.Glu141fs) rs868858346
NM_025114.4(CEP290):c.4249C>T (p.Gln1417Ter)
NM_025114.4(CEP290):c.4263del (p.Phe1421fs) rs2137219551
NM_025114.4(CEP290):c.4276_4277del (p.Gln1425_Asn1426insTer) rs863224523
NM_025114.4(CEP290):c.4322C>G (p.Ser1441Ter) rs2500011110
NM_025114.4(CEP290):c.4384G>T (p.Glu1462Ter) rs2500009261
NM_025114.4(CEP290):c.4384del (p.Glu1462fs) rs863225182
NM_025114.4(CEP290):c.4435G>T (p.Glu1479Ter)
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs) rs780624853
NM_025114.4(CEP290):c.4453G>T (p.Glu1485Ter) rs2499991573
NM_025114.4(CEP290):c.4535del (p.Thr1512fs) rs2499989379
NM_025114.4(CEP290):c.4561G>T (p.Glu1521Ter) rs1475658217
NM_025114.4(CEP290):c.4562dup (p.Leu1522fs) rs2499988736
NM_025114.4(CEP290):c.4576G>T (p.Glu1526Ter) rs1337146202
NM_025114.4(CEP290):c.457G>T (p.Glu153Ter) rs2501544530
NM_025114.4(CEP290):c.4621del (p.Thr1541fs) rs587779733
NM_025114.4(CEP290):c.4634_4637dup (p.Gln1546fs) rs746413821
NM_025114.4(CEP290):c.4648_4649insCA (p.Asn1550fs) rs2137183334
NM_025114.4(CEP290):c.4651C>T (p.Gln1551Ter) rs746305733
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del) rs757309583
NM_025114.4(CEP290):c.4656del (p.Glu1553fs) rs62640572
NM_025114.4(CEP290):c.4677T>G (p.Tyr1559Ter) rs2137182509
NM_025114.4(CEP290):c.4705-2A>C rs2137170380
NM_025114.4(CEP290):c.4705G>T (p.Glu1569Ter) rs2137170285
NM_025114.4(CEP290):c.4714G>T (p.Glu1572Ter) rs1292516576
NM_025114.4(CEP290):c.4714_4715del (p.Glu1572fs) rs2499974587
NM_025114.4(CEP290):c.4734_4735delinsAT (p.Glu1579Ter)
NM_025114.4(CEP290):c.4737del (p.Asp1580fs) rs1304430926
NM_025114.4(CEP290):c.4763T>G (p.Leu1588Ter) rs760653238
NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter) rs62640574
NM_025114.4(CEP290):c.4798A>T (p.Lys1600Ter) rs2499972252
NM_025114.4(CEP290):c.4808_4812del (p.Ala1603fs) rs2036372197
NM_025114.4(CEP290):c.4820dup (p.Met1607fs) rs2499961991
NM_025114.4(CEP290):c.4825C>T (p.Gln1609Ter) rs2137156392
NM_025114.4(CEP290):c.4825_4826del (p.Gln1609fs) rs2499961754
NM_025114.4(CEP290):c.4834_4835del (p.Thr1612fs) rs1207944612
NM_025114.4(CEP290):c.483del (p.Lys161fs) rs2501542597
NM_025114.4(CEP290):c.4855dup (p.His1619fs) rs2499960522
NM_025114.4(CEP290):c.4864_4865delinsT (p.Arg1622fs) rs2036318355
NM_025114.4(CEP290):c.4879G>T (p.Glu1627Ter) rs868148490
NM_025114.4(CEP290):c.4879dup (p.Glu1627fs) rs2499959456
NM_025114.4(CEP290):c.4897C>T (p.Gln1633Ter) rs1159120623
NM_025114.4(CEP290):c.4909_4910del (p.Leu1637fs) rs2499958555
NM_025114.4(CEP290):c.4916C>A (p.Ser1639Ter) rs2499958316
NM_025114.4(CEP290):c.4943_4944insTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCCACAGCCAATATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAAGTATC (p.Gln1649_Asp1650insTerGln) rs2499957344
NM_025114.4(CEP290):c.4945C>T (p.Gln1649Ter) rs2137152484
NM_025114.4(CEP290):c.4954G>T (p.Glu1652Ter) rs2499956762
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs) rs764309755
NM_025114.4(CEP290):c.4963del (p.Arg1655fs) rs764309755
NM_025114.4(CEP290):c.4966_4967del (p.Glu1656fs) rs756302731
NM_025114.4(CEP290):c.4983del (p.Lys1661_Val1662insTer) rs879447211
NM_025114.4(CEP290):c.4985_4986del (p.Val1662fs) rs2036306894
NM_025114.4(CEP290):c.4990G>T (p.Glu1664Ter) rs2499955544
NM_025114.4(CEP290):c.5002dup (p.Ile1668fs) rs2137151163
NM_025114.4(CEP290):c.5009_5012del (p.Leu1670fs) rs2137150860
NM_025114.4(CEP290):c.5029_5030del (p.Glu1677fs) rs2036111540
NM_025114.4(CEP290):c.5086C>T (p.Gln1696Ter) rs2036106218
NM_025114.4(CEP290):c.5092C>T (p.Gln1698Ter) rs2499911513
NM_025114.4(CEP290):c.5098G>T (p.Glu1700Ter) rs2499911272
NM_025114.4(CEP290):c.5104_5105del (p.Gln1702fs) rs766259648
NM_025114.4(CEP290):c.5127_5143del (p.Ala1710fs) rs2137103699
NM_025114.4(CEP290):c.5130del (p.Gln1711fs) rs2499910412
NM_025114.4(CEP290):c.5136_5139del (p.Glu1713fs) rs995093343
NM_025114.4(CEP290):c.5137G>T (p.Glu1713Ter) rs2499910206
NM_025114.4(CEP290):c.5197C>T (p.Gln1733Ter) rs1367899236
NM_025114.4(CEP290):c.5212G>T (p.Glu1738Ter) rs1555205328
NM_025114.4(CEP290):c.5217del (p.Lys1739fs) rs2137101209
NM_025114.4(CEP290):c.5221C>T (p.Gln1741Ter) rs2499907395
NM_025114.4(CEP290):c.5235_5238del (p.Ser1745fs) rs775969711
NM_025114.4(CEP290):c.5254C>T (p.Arg1752Trp) rs748471942
NM_025114.4(CEP290):c.5277dup (p.Glu1760Ter) rs1158268529
NM_025114.4(CEP290):c.5329C>T (p.Gln1777Ter) rs774410421
NM_025114.4(CEP290):c.532C>T (p.Gln178Ter) rs2039993548
NM_025114.4(CEP290):c.5348_5351del (p.His1783fs) rs2137080156
NM_025114.4(CEP290):c.5415del (p.Thr1807fs) rs1592808035
NM_025114.4(CEP290):c.5416A>T (p.Lys1806Ter) rs2499860456
NM_025114.4(CEP290):c.5418_5422del (p.Lys1806_Thr1807insTer) rs2499860162
NM_025114.4(CEP290):c.5423_5426del (p.Ser1808fs) rs2499859881
NM_025114.4(CEP290):c.5434_5435del (p.Glu1812fs) rs757609119
NM_025114.4(CEP290):c.5445_5448del (p.Thr1816fs) rs749331348
NM_025114.4(CEP290):c.5468_5471del (p.Asn1823fs) rs2499858442
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.5509_5512del (p.Leu1837fs) rs2499856690
NM_025114.4(CEP290):c.5512dup (p.Arg1838fs) rs1565822519
NM_025114.4(CEP290):c.5515_5518del (p.Glu1839fs) rs281865187
NM_025114.4(CEP290):c.5557C>T (p.Gln1853Ter) rs2035884532
NM_025114.4(CEP290):c.5580del (p.Leu1861fs) rs1592807018
NM_025114.4(CEP290):c.5582T>A (p.Leu1861Ter) rs2137056192
NM_025114.4(CEP290):c.5584C>T (p.Gln1862Ter) rs2499853126
NM_025114.4(CEP290):c.558_561del (p.Asp188fs) rs751223288
NM_025114.4(CEP290):c.5596del (p.Pro1865_Leu1866insTer) rs2499843752
NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs) rs727503853
NM_025114.4(CEP290):c.5614del (p.Ser1872fs) rs1565821736
NM_025114.4(CEP290):c.5632C>T (p.Gln1878Ter) rs2137050478
NM_025114.4(CEP290):c.5649dup (p.Leu1884fs) rs281865188
NM_025114.4(CEP290):c.5659C>T (p.Gln1887Ter)
NM_025114.4(CEP290):c.5709+1G>A rs759850328
NM_025114.4(CEP290):c.5709+2T>G rs2499838601
NM_025114.4(CEP290):c.5714del (p.Ala1905fs) rs2136966486
NM_025114.4(CEP290):c.5728_5731del (p.Ile1910fs) rs754728136
NM_025114.4(CEP290):c.574_577del (p.Glu192fs) rs2501503340
NM_025114.4(CEP290):c.5750del (p.Lys1917fs) rs2499744612
NM_025114.4(CEP290):c.5754G>A (p.Trp1918Ter) rs2499744201
NM_025114.4(CEP290):c.5766_5769del (p.Ile1922fs) rs908238464
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter) rs561598805
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro) rs778030031
NM_025114.4(CEP290):c.5783del (p.Lys1928fs) rs2136964738
NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter) rs1592784618
NM_025114.4(CEP290):c.5788_5792del (p.Lys1930fs) rs2035400071
NM_025114.4(CEP290):c.5790del (p.Glu1931fs) rs2136964542
NM_025114.4(CEP290):c.5791_5794del (p.Glu1931fs) rs2136964385
NM_025114.4(CEP290):c.5798_5799del (p.Glu1933fs) rs2035399616
NM_025114.4(CEP290):c.579_580del (p.Leu194fs) rs2501502939
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter) rs886042360
NM_025114.4(CEP290):c.5805dup (p.Val1936fs) rs2499741922
NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs) rs62638180
NM_025114.4(CEP290):c.5816dup (p.Leu1939fs) rs2499741312
NM_025114.4(CEP290):c.5828del (p.Gln1942_Leu1943insTer) rs2499740973
NM_025114.4(CEP290):c.583_584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.5850del (p.Phe1950fs) rs386834159
NM_025114.4(CEP290):c.5854A>T (p.Lys1952Ter) rs2035393800
NM_025114.4(CEP290):c.5873_5874del (p.Leu1958fs) rs2035367210
NM_025114.4(CEP290):c.587C>G (p.Ser196Ter) rs2039989513
NM_025114.4(CEP290):c.5931_5935del (p.Arg1978fs) rs1555201796
NM_025114.4(CEP290):c.5942_5943del (p.Glu1981fs)
NM_025114.4(CEP290):c.5953G>T (p.Glu1985Ter) rs1014354752
NM_025114.4(CEP290):c.5962G>T (p.Glu1988Ter) rs2035358840
NM_025114.4(CEP290):c.5972del (p.Lys1991fs) rs1468269366
NM_025114.4(CEP290):c.597_648del (p.Glu200fs) rs2039985700
NM_025114.4(CEP290):c.6043_6053del (p.Val2015fs) rs2035124136
NM_025114.4(CEP290):c.6076C>T (p.Gln2026Ter) rs2499676199
NM_025114.4(CEP290):c.6079del (p.Glu2027fs) rs2136911634
NM_025114.4(CEP290):c.6084_6085del (p.Lys2028fs) rs2136911405
NM_025114.4(CEP290):c.6103del (p.Gln2035fs) rs2136910908
NM_025114.4(CEP290):c.6154_6161del (p.Asp2052fs) rs867904492
NM_025114.4(CEP290):c.6156_6159del (p.Asp2053fs) rs2499620281
NM_025114.4(CEP290):c.6170_6173del (p.Arg2057fs) rs2499619686
NM_025114.4(CEP290):c.6175C>T (p.Gln2059Ter) rs2499619599
NM_025114.4(CEP290):c.6187A>T (p.Lys2063Ter) rs2136814350
NM_025114.4(CEP290):c.6241C>T (p.Gln2081Ter)
NM_025114.4(CEP290):c.6249_6252del (p.Asn2083fs) rs2499617642
NM_025114.4(CEP290):c.626del (p.Ser209fs) rs2039987359
NM_025114.4(CEP290):c.6271-8T>G rs1039146791
NM_025114.4(CEP290):c.635_636insG (p.Asn212fs) rs2501497769
NM_025114.4(CEP290):c.635_636insT (p.Tyr213fs) rs2501497769
NM_025114.4(CEP290):c.635del (p.Asn212fs) rs769091629
NM_025114.4(CEP290):c.635dup (p.Asn212fs) rs769091629
NM_025114.4(CEP290):c.6360dup (p.Gly2121fs) rs2499572404
NM_025114.4(CEP290):c.6377_6378del (p.Thr2126fs) rs2499571894
NM_025114.4(CEP290):c.6417dup (p.Val2140fs) rs1225676118
NM_025114.4(CEP290):c.6418_6419insC (p.Val2140fs) rs2136751258
NM_025114.4(CEP290):c.6424dup (p.Glu2142fs) rs2499570339
NM_025114.4(CEP290):c.6439G>T (p.Glu2147Ter) rs1234975160
NM_025114.4(CEP290):c.6447del (p.Glu2149fs) rs1157238971
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs) rs1364945778
NM_025114.4(CEP290):c.6487dup (p.Met2163fs) rs2136748724
NM_025114.4(CEP290):c.6502C>T (p.Gln2168Ter)
NM_025114.4(CEP290):c.6516del (p.Lys2172fs) rs1057519165
NM_025114.4(CEP290):c.6516dup (p.Leu2173fs) rs1057519165
NM_025114.4(CEP290):c.6537del (p.Lys2179fs) rs2136728464
NM_025114.4(CEP290):c.654T>G (p.Tyr218Ter) rs863225185
NM_025114.4(CEP290):c.6604del (p.Ile2202fs) rs758329611
NM_025114.4(CEP290):c.661G>T (p.Glu221Ter) rs2138093974
NM_025114.4(CEP290):c.6624del (p.Arg2208fs) rs2136725569
NM_025114.4(CEP290):c.6634G>T (p.Glu2212Ter) rs2034330893
NM_025114.4(CEP290):c.6640A>T (p.Lys2214Ter) rs768065164
NM_025114.4(CEP290):c.6645del (p.Glu2216fs) rs2136724878
NM_025114.4(CEP290):c.664del (p.Ile222fs) rs2138093868
NM_025114.4(CEP290):c.6760dup (p.Arg2254fs) rs2034235109
NM_025114.4(CEP290):c.6788del (p.Ser2263fs)
NM_025114.4(CEP290):c.6797G>A (p.Trp2266Ter) rs2034232539
NM_025114.4(CEP290):c.679_680del (p.Glu227fs) rs62640578
NM_025114.4(CEP290):c.6836T>A (p.Leu2279Ter) rs2033943937
NM_025114.4(CEP290):c.6838A>T (p.Lys2280Ter) rs2499472817
NM_025114.4(CEP290):c.6841G>T (p.Glu2281Ter) rs2136656497
NM_025114.4(CEP290):c.6869del (p.Asn2290fs) rs587783017
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs) rs587783017
NM_025114.4(CEP290):c.6892C>T (p.Gln2298Ter) rs2033937635
NM_025114.4(CEP290):c.6916A>T (p.Arg2306Ter) rs2499470143
NM_025114.4(CEP290):c.6917_6920del (p.Arg2306fs) rs1177923180
NM_025114.4(CEP290):c.6919_6920del (p.Glu2307fs) rs1177923180
NM_025114.4(CEP290):c.6919_6920dup (p.Gln2308fs) rs1177923180
NM_025114.4(CEP290):c.6927del (p.Val2310fs) rs1441877386
NM_025114.4(CEP290):c.694dup (p.Ile232fs) rs2501476639
NM_025114.4(CEP290):c.6985G>T (p.Glu2329Ter)
NM_025114.4(CEP290):c.6992del (p.Ala2331fs) rs2499445529
NM_025114.4(CEP290):c.6994G>T (p.Glu2332Ter) rs1414041522
NM_025114.4(CEP290):c.7003dup (p.Gln2335fs) rs2499445099
NM_025114.4(CEP290):c.7015del (p.Arg2339fs) rs2499444567
NM_025114.4(CEP290):c.7031_7034+7delinsAT rs2499443322
NM_025114.4(CEP290):c.7081C>T (p.Gln2361Ter) rs878896889
NM_025114.4(CEP290):c.7127del (p.Pro2376fs) rs2499426087
NM_025114.4(CEP290):c.712G>T (p.Glu238Ter) rs2138086844
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer) rs781310385
NM_025114.4(CEP290):c.7171_7172del (p.Gln2391fs) rs768864797
NM_025114.4(CEP290):c.7175_7176del (p.Leu2392fs) rs747239148
NM_025114.4(CEP290):c.718A>T (p.Arg240Ter) rs2501474958
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter) rs1478582091
NM_025114.4(CEP290):c.7209+1G>A rs1420974027
NM_025114.4(CEP290):c.7209+2T>G
NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs) rs763762899
NM_025114.4(CEP290):c.7233del (p.Glu2412fs) rs2033254449
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs) rs2033254449
NM_025114.4(CEP290):c.725dup (p.Asn242fs) rs1440468666
NM_025114.4(CEP290):c.7263del (p.Phe2421fs) rs1219184437
NM_025114.4(CEP290):c.7263dup (p.Glu2422Ter) rs1219184437
NM_025114.4(CEP290):c.7264G>T (p.Glu2422Ter) rs2136547054
NM_025114.4(CEP290):c.7282_7286dup (p.Tyr2429Ter) rs2136546576
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter) rs773642187
NM_025114.4(CEP290):c.7288_7289dup (p.Asn2430fs) rs1482471100
NM_025114.4(CEP290):c.7289_7292dup (p.Tyr2431Ter) rs2136546348
NM_025114.4(CEP290):c.730G>T (p.Glu244Ter) rs2138086329
NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs) rs747138345
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs) rs747138345
NM_025114.4(CEP290):c.7331del (p.Lys2444fs) rs2499339598
NM_025114.4(CEP290):c.7341_7344dup (p.Ser2449fs) rs778907433
NM_025114.4(CEP290):c.7341del (p.Lys2447fs) rs281865189
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs) rs281865189
NM_025114.4(CEP290):c.734_735del (p.Glu245fs) rs1592671672
NM_025114.4(CEP290):c.737_738del (p.Ser246fs) rs2039957886
NM_025114.4(CEP290):c.742C>T (p.Gln248Ter) rs2138085855
NM_025114.4(CEP290):c.802_803del (p.Thr267_Asp268insTer) rs2501468319
NM_025114.4(CEP290):c.816del (p.Gln273fs) rs2501466847
NM_025114.4(CEP290):c.817C>T (p.Gln273Ter) rs1592671313
NM_025114.4(CEP290):c.828del (p.Glu277fs) rs1555225566
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter) rs45502896
NM_025114.4(CEP290):c.833_836dup (p.Asp279fs) rs1489175048
NM_025114.4(CEP290):c.843_845del (p.Tyr281_Gln282delinsTer) rs2138083048
NM_025114.4(CEP290):c.84del (p.Leu28fs) rs2501862857
NM_025114.4(CEP290):c.850C>T (p.Gln284Ter) rs2501462993
NM_025114.4(CEP290):c.881C>A (p.Ser294Ter) rs1592668925
NM_025114.4(CEP290):c.955del (p.Ser319fs) rs764507012
NM_025114.4(CEP290):c.976_979del (p.Glu326fs) rs1231036283
NM_025114.4(CEP290):c.985C>T (p.Gln329Ter) rs2138023519
NM_030578.4(B9D2):c.156_163del (p.Asp53fs) rs786204189
NM_153704.6(TMEM67):c.1130del (p.Asn377fs) rs2536850924
NM_153704.6(TMEM67):c.1170del (p.Thr391fs)
NM_153704.6(TMEM67):c.1247T>A (p.Leu416Ter) rs2536860629
NM_153704.6(TMEM67):c.1285C>T (p.Gln429Ter) rs371672760
NM_153704.6(TMEM67):c.1338_1350del (p.Ala447fs) rs2130690833
NM_153704.6(TMEM67):c.1373dup (p.Pro459fs) rs1586051330
NM_153704.6(TMEM67):c.1413-1G>A rs386834185
NM_153704.6(TMEM67):c.1413-1G>C rs386834185
NM_153704.6(TMEM67):c.1519-1G>A rs2536880959
NM_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys) rs137853107
NM_153704.6(TMEM67):c.1540G>T (p.Glu514Ter)
NM_153704.6(TMEM67):c.1576-1G>A rs2536888066
NM_153704.6(TMEM67):c.157C>T (p.Gln53Ter) rs1188649369
NM_153704.6(TMEM67):c.161_188del (p.Tyr54fs) rs2536753244
NM_153704.6(TMEM67):c.1621_1622del (p.Leu541fs) rs2536888411
NM_153704.6(TMEM67):c.1638G>A (p.Trp546Ter) rs2130719312
NM_153704.6(TMEM67):c.1638del (p.Gly545_Trp546insTer) rs2130719298
NM_153704.6(TMEM67):c.1660_1661del (p.Met554fs)
NM_153704.6(TMEM67):c.1704dup (p.Gly569fs) rs2536896644
NM_153704.6(TMEM67):c.1706G>A (p.Gly569Asp)
NM_153704.6(TMEM67):c.1730_1733del (p.Ile577fs) rs2536896797
NM_153704.6(TMEM67):c.1788_1789del (p.Ser597fs) rs1420027196
NM_153704.6(TMEM67):c.1833_1834del (p.Tyr612fs) rs2536899211
NM_153704.6(TMEM67):c.1836T>G (p.Tyr612Ter)
NM_153704.6(TMEM67):c.1942_1951del (p.Val648fs) rs1425829432
NM_153704.6(TMEM67):c.1964_1965dup (p.Gly656fs) rs1814667437
NM_153704.6(TMEM67):c.1968_1969del (p.Gly657fs) rs771421444
NM_153704.6(TMEM67):c.1981_1982delinsT (p.Ala661fs) rs2130735328
NM_153704.6(TMEM67):c.1987_1988del (p.Val663fs) rs2536904331
NM_153704.6(TMEM67):c.2069_2070del (p.Phe690fs) rs1184169158
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe) rs863225238
NM_153704.6(TMEM67):c.2087T>C (p.Leu696Pro) rs2130735817
NM_153704.6(TMEM67):c.2122G>C (p.Ala708Pro) rs149475825
NM_153704.6(TMEM67):c.2163del (p.Ser722fs) rs1563474005
NM_153704.6(TMEM67):c.2239C>T (p.Gln747Ter) rs764097983
NM_153704.6(TMEM67):c.224-2A>T rs768412278
NM_153704.6(TMEM67):c.2302dup (p.Asp768fs) rs2536923923
NM_153704.6(TMEM67):c.2314_2322+4delinsGG rs1064792983
NM_153704.6(TMEM67):c.2326T>G (p.Ser776Ala) rs748937483
NM_153704.6(TMEM67):c.233G>A (p.Cys78Tyr) rs1563673490
NM_153704.6(TMEM67):c.2357G>A (p.Gly786Glu) rs386834193
NM_153704.6(TMEM67):c.2429_2433del (p.Lys810fs) rs2536929958
NM_153704.6(TMEM67):c.242_245del (p.Leu81fs) rs2536756606
NM_153704.6(TMEM67):c.245C>G (p.Pro82Arg) rs772437766
NM_153704.6(TMEM67):c.252del (p.Gln85fs)
NM_153704.6(TMEM67):c.2556+1G>A rs786200867
NM_153704.6(TMEM67):c.2596dup (p.Thr866fs)
NM_153704.6(TMEM67):c.267_294del (p.Asn89fs) rs2536756723
NM_153704.6(TMEM67):c.2857del (p.Ala953fs)
NM_153704.6(TMEM67):c.312+2T>G rs2130528812
NM_153704.6(TMEM67):c.322dup (p.Thr108fs) rs1812681075
NM_153704.6(TMEM67):c.329A>G (p.Asp110Gly) rs1014876003
NM_153704.6(TMEM67):c.351C>A (p.Cys117Ter)
NM_153704.6(TMEM67):c.415_416del (p.Asp139fs)
NM_153704.6(TMEM67):c.459_460del (p.Cys153_Asp154delinsTer) rs2536784649
NM_153704.6(TMEM67):c.475T>C (p.Ser159Pro) rs775716868
NM_153704.6(TMEM67):c.50T>A (p.Leu17Ter) rs1563672487
NM_153704.6(TMEM67):c.511G>T (p.Val171Phe)
NM_153704.6(TMEM67):c.517T>C (p.Cys173Arg) rs138783896
NM_153704.6(TMEM67):c.637C>T (p.Arg213Cys)
NM_153704.6(TMEM67):c.683_689del (p.Lys228fs) rs2130622403
NM_153704.6(TMEM67):c.714G>A (p.Trp238Ter) rs1038920023
NM_153704.6(TMEM67):c.869G>A (p.Trp290Ter) rs267607117
NM_153704.6(TMEM67):c.877_880del (p.Asn293fs) rs2536842897
NM_153704.6(TMEM67):c.924_925insTGAGGAGTGTCTCTGCCCGGCCGCTCCGTCTGAGAAGTGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGGATTAGCACCTCAA (p.Val309Ter) rs2130664400
NM_153704.6(TMEM67):c.996_1014del (p.Phe332fs) rs2130668581

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