ClinVar Miner

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

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1207
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001378615.1(CC2D2A):c.1762C>T (p.Gln588Ter) rs116358011 0.00057
NM_001077418.3(TMEM231):c.139+47C>A rs200063331 0.00029
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
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_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399 0.00011
NM_153704.6(TMEM67):c.224-2del rs386834190 0.00010
NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala) rs1442638461 0.00009
NM_015681.6(B9D1):c.341+2T>C rs143149764 0.00009
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 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_001378615.1(CC2D2A):c.1017+1G>A rs200407856 0.00008
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409 0.00007
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_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_001077418.3(TMEM231):c.664G>A (p.Val222Ile) rs397514753 0.00005
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) rs121918203 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_001378615.1(CC2D2A):c.2803C>T (p.Arg935Ter) rs563610095 0.00004
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro) rs121918198 0.00004
NM_015272.5(RPGRIP1L):c.2200C>T (p.Arg734Ter) rs751128300 0.00004
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter) rs1277577195 0.00004
NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter) rs121918197 0.00004
NM_025114.4(CEP290):c.4438-3del rs747323414 0.00004
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter) rs772170760 0.00004
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter) rs370119681 0.00004
NM_025114.4(CEP290):c.7073_7077dup (p.His2360Ter) rs1294402003 0.00004
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180 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_001077416.2(TMEM231):c.74T>A (p.Met25Lys) rs397514609 0.00003
NM_001077418.3(TMEM231):c.284del (p.Asp95fs) rs750897443 0.00003
NM_001077418.3(TMEM231):c.438+1G>A rs1415483600 0.00003
NM_001378615.1(CC2D2A):c.3341C>T (p.Thr1114Met) rs386833752 0.00003
NM_001378615.1(CC2D2A):c.4333C>T (p.Arg1445Ter) rs529437224 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_025114.4(CEP290):c.2722C>T (p.Arg908Ter) rs886042153 0.00003
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter) rs575767207 0.00003
NM_025114.4(CEP290):c.5745dup (p.Lys1916Ter) rs751361090 0.00003
NM_025114.4(CEP290):c.7048C>T (p.Gln2350Ter) rs375548374 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_001077418.3(TMEM231):c.124G>A (p.Ala42Thr) rs1197109885 0.00002
NM_001378615.1(CC2D2A):c.100C>T (p.Arg34Ter) rs896947430 0.00002
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter) rs760676442 0.00002
NM_001378615.1(CC2D2A):c.3688C>T (p.Arg1230Ter) rs1022325907 0.00002
NM_001378615.1(CC2D2A):c.3850C>T (p.Arg1284Cys) rs779823379 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_017777.4(MKS1):c.1024+1G>A rs199874059 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_024809.5(TCTN2):c.1506-2A>G rs374349989 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.1078C>T (p.Arg360Ter) rs776645403 0.00002
NM_025114.4(CEP290):c.2249T>G (p.Leu750Ter) rs137852833 0.00002
NM_025114.4(CEP290):c.367C>T (p.Gln123Ter) rs770126103 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_025114.4(CEP290):c.7287T>A (p.Tyr2429Ter) rs775189201 0.00002
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727 0.00002
NM_153704.6(TMEM67):c.1927C>T (p.Arg643Ter) rs115195998 0.00002
NM_153704.6(TMEM67):c.2132A>C (p.Asp711Ala) rs781383498 0.00002
NM_153704.6(TMEM67):c.2290C>T (p.Arg764Ter) rs751517725 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_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_001378615.1(CC2D2A):c.1267C>T (p.Arg423Ter) rs757208121 0.00001
NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter) rs781252161 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.2999A>T (p.Glu1000Val) rs773881370 0.00001
NM_001378615.1(CC2D2A):c.3134T>C (p.Val1045Ala) rs863225173 0.00001
NM_001378615.1(CC2D2A):c.3376G>A (p.Glu1126Lys) rs1473532901 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.4460dup (p.Ser1488fs) rs1560199860 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.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_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.1649A>G (p.Gln550Arg) rs772900011 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.71dup (p.Met24fs) rs990678342 0.00001
NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter) rs993394322 0.00001
NM_017777.4(MKS1):c.1031C>G (p.Ser344Ter) rs760971749 0.00001
NM_017777.4(MKS1):c.1156G>T (p.Glu386Ter) rs1968640181 0.00001
NM_017777.4(MKS1):c.191-1G>A rs201362733 0.00001
NM_017777.4(MKS1):c.367C>T (p.Arg123Ter) rs762482919 0.00001
NM_017777.4(MKS1):c.370C>T (p.Arg124Ter) rs990955357 0.00001
NM_017777.4(MKS1):c.472C>T (p.Arg158Ter) rs386834050 0.00001
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter) rs756853299 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_024809.5(TCTN2):c.1336C>T (p.Arg446Ter) rs757485757 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.1429C>T (p.Arg477Ter) rs1170451277 0.00001
NM_025114.4(CEP290):c.1474A>T (p.Lys492Ter) rs1278679056 0.00001
NM_025114.4(CEP290):c.1593C>A (p.Tyr531Ter) rs763559949 0.00001
NM_025114.4(CEP290):c.1627G>T (p.Glu543Ter) rs1186821575 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.2414T>C (p.Leu805Pro) rs762633090 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.3922C>T (p.Gln1308Ter) rs1417251616 0.00001
NM_025114.4(CEP290):c.3G>A (p.Met1Ile) rs773525033 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.4651C>T (p.Gln1551Ter) rs746305733 0.00001
NM_025114.4(CEP290):c.4705-1G>T rs777464278 0.00001
NM_025114.4(CEP290):c.5163del (p.Thr1722fs) rs1565827171 0.00001
NM_025114.4(CEP290):c.5587-1G>C rs968692633 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.6703G>T (p.Glu2235Ter) rs1375836634 0.00001
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter) rs1374014119 0.00001
NM_025114.4(CEP290):c.7341_7344dup (p.Ser2449fs) rs778907433 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.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.300C>A (p.Cys100Ter) rs751309268 0.00001
NM_153704.6(TMEM67):c.312+5G>A rs786200868 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.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_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_000004.12:g.15574152_15574155del
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_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_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
NM_001077418.3(TMEM231):c.-37G>A
NM_001077418.3(TMEM231):c.139+1del rs2151711054
NM_001077418.3(TMEM231):c.139+39_139+40del
NM_001077418.3(TMEM231):c.140-3C>G rs776673877
NM_001077418.3(TMEM231):c.140-8dup
NM_001077418.3(TMEM231):c.140-9_140-8del
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter) rs2080804101
NM_001077418.3(TMEM231):c.33C>A (p.Val11=)
NM_001077418.3(TMEM231):c.354dup (p.His119fs) rs2151703115
NM_001077418.3(TMEM231):c.3_4insAGCTCTATGAGCTCATG (p.Ala2fs)
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)
NM_001077418.3(TMEM231):c.583-1_583delinsAG rs2151700036
NM_001077418.3(TMEM231):c.583-1_593delinsAGTATCTGTGAC
NM_001080522.2(CC2D2A):c.3289delG rs386833751
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)
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)
NM_001082538.3(TCTN1):c.210dup (p.Val71fs)
NM_001082538.3(TCTN1):c.256_257del (p.Gln86fs)
NM_001082538.3(TCTN1):c.411_412del (p.Arg138fs) rs1398514249
NM_001082538.3(TCTN1):c.436dup (p.Ile146fs) rs2065847886
NM_001082538.3(TCTN1):c.822+1G>A
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)
NM_001378615.1(CC2D2A):c.1105C>T (p.Gln369Ter)
NM_001378615.1(CC2D2A):c.121C>T (p.Gln41Ter) rs2108970120
NM_001378615.1(CC2D2A):c.1263_1264insGGCATGTTTTGGC (p.Ser422fs)
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)
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)
NM_001378615.1(CC2D2A):c.1538G>A (p.Trp513Ter) rs2109029867
NM_001378615.1(CC2D2A):c.1596del (p.Val533fs)
NM_001378615.1(CC2D2A):c.1644T>A (p.Tyr548Ter)
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)
NM_001378615.1(CC2D2A):c.16G>T (p.Glu6Ter)
NM_001378615.1(CC2D2A):c.173del (p.Gly58fs)
NM_001378615.1(CC2D2A):c.1751G>A (p.Trp584Ter) rs980305935
NM_001378615.1(CC2D2A):c.1760del (p.Val587fs)
NM_001378615.1(CC2D2A):c.1790_1809del (p.Gln597fs)
NM_001378615.1(CC2D2A):c.1801G>T (p.Glu601Ter)
NM_001378615.1(CC2D2A):c.1883dup (p.Val629fs)
NM_001378615.1(CC2D2A):c.199del (p.Glu67fs) rs1433294475
NM_001378615.1(CC2D2A):c.2043dup (p.Val682fs)
NM_001378615.1(CC2D2A):c.2105del (p.Gly702fs)
NM_001378615.1(CC2D2A):c.2116C>T (p.Arg706Ter)
NM_001378615.1(CC2D2A):c.2146C>T (p.Gln716Ter)
NM_001378615.1(CC2D2A):c.2181+1G>A
NM_001378615.1(CC2D2A):c.2222_2229dup (p.Phe744fs) rs1471484901
NM_001378615.1(CC2D2A):c.2417del (p.Ala806fs)
NM_001378615.1(CC2D2A):c.2561G>A (p.Trp854Ter) rs1560180188
NM_001378615.1(CC2D2A):c.2568del (p.Glu857fs)
NM_001378615.1(CC2D2A):c.2581G>A (p.Asp861Asn)
NM_001378615.1(CC2D2A):c.25A>T (p.Lys9Ter)
NM_001378615.1(CC2D2A):c.2625+1G>A rs1577372471
NM_001378615.1(CC2D2A):c.2625+2T>C rs1449972974
NM_001378615.1(CC2D2A):c.2650del (p.Val884fs)
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.2875G>T (p.Glu959Ter)
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)
NM_001378615.1(CC2D2A):c.293_299del (p.Glu97_Phe98insTer)
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.3049C>T (p.Gln1017Ter)
NM_001378615.1(CC2D2A):c.304G>T (p.Gly102Ter)
NM_001378615.1(CC2D2A):c.306dup (p.Arg103fs)
NM_001378615.1(CC2D2A):c.3084del (p.Lys1029fs) rs386833749
NM_001378615.1(CC2D2A):c.3145C>T (p.Arg1049Ter) rs386833750
NM_001378615.1(CC2D2A):c.3276C>A (p.Tyr1092Ter)
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)
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001378615.1(CC2D2A):c.3418_3425del (p.Ser1140fs)
NM_001378615.1(CC2D2A):c.3468dup (p.Asp1157Ter)
NM_001378615.1(CC2D2A):c.3469_3476del (p.Asp1157fs)
NM_001378615.1(CC2D2A):c.3505G>T (p.Glu1169Ter)
NM_001378615.1(CC2D2A):c.3535G>T (p.Glu1179Ter)
NM_001378615.1(CC2D2A):c.3538A>T (p.Arg1180Ter)
NM_001378615.1(CC2D2A):c.356T>A (p.Leu119Ter)
NM_001378615.1(CC2D2A):c.3588del (p.Ala1197fs) rs982352950
NM_001378615.1(CC2D2A):c.35_36del (p.Thr12fs)
NM_001378615.1(CC2D2A):c.3638del (p.Gly1213fs)
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)
NM_001378615.1(CC2D2A):c.3739C>T (p.Gln1247Ter)
NM_001378615.1(CC2D2A):c.3744_3747dup (p.Pro1250fs) rs863225171
NM_001378615.1(CC2D2A):c.3762del (p.Arg1255fs)
NM_001378615.1(CC2D2A):c.3770del (p.Lys1257fs)
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)
NM_001378615.1(CC2D2A):c.384del (p.Arg129fs)
NM_001378615.1(CC2D2A):c.3892_3893del (p.Val1298fs) rs763735590
NM_001378615.1(CC2D2A):c.3896_3920del (p.Val1298_Phe1299insTer)
NM_001378615.1(CC2D2A):c.3897del (p.Phe1299fs)
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)
NM_001378615.1(CC2D2A):c.411_414del (p.Lys137fs)
NM_001378615.1(CC2D2A):c.4127_4130del (p.Phe1376fs)
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)
NM_001378615.1(CC2D2A):c.4229G>A (p.Trp1410Ter)
NM_001378615.1(CC2D2A):c.4254T>A (p.Tyr1418Ter)
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)
NM_001378615.1(CC2D2A):c.436G>T (p.Glu146Ter)
NM_001378615.1(CC2D2A):c.4440del (p.Glu1481fs)
NM_001378615.1(CC2D2A):c.4455C>A (p.Tyr1485Ter)
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_001378615.1(CC2D2A):c.4471dup (p.Ala1491fs)
NM_001378615.1(CC2D2A):c.4507dup (p.Ile1503fs)
NM_001378615.1(CC2D2A):c.4513A>T (p.Lys1505Ter)
NM_001378615.1(CC2D2A):c.4522del (p.Ile1508fs) rs775292940
NM_001378615.1(CC2D2A):c.4522dup (p.Ile1508fs)
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)
NM_001378615.1(CC2D2A):c.4594_4624del (p.Leu1531_Pro1532insTer)
NM_001378615.1(CC2D2A):c.463C>T (p.Gln155Ter)
NM_001378615.1(CC2D2A):c.4654A>T (p.Lys1552Ter)
NM_001378615.1(CC2D2A):c.4655_4656dup (p.Gln1553fs)
NM_001378615.1(CC2D2A):c.4671C>A (p.Tyr1557Ter)
NM_001378615.1(CC2D2A):c.467_468insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACGTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAGGACTCAACA (p.Gln156_Glu157insAlaGlyArgGlyGlySerArgLeuTer)
NM_001378615.1(CC2D2A):c.4682dup (p.Phe1562fs) rs1553845917
NM_001378615.1(CC2D2A):c.469G>T (p.Glu157Ter)
NM_001378615.1(CC2D2A):c.4708G>T (p.Glu1570Ter)
NM_001378615.1(CC2D2A):c.523del (p.Ile175fs)
NM_001378615.1(CC2D2A):c.534del (p.Lys178fs)
NM_001378615.1(CC2D2A):c.541-1G>A rs1716552711
NM_001378615.1(CC2D2A):c.650del (p.Gly217fs) rs746415983
NM_001378615.1(CC2D2A):c.676G>T (p.Glu226Ter)
NM_001378615.1(CC2D2A):c.715del (p.Met239fs)
NM_001378615.1(CC2D2A):c.718-1G>C
NM_001378615.1(CC2D2A):c.77_83del (p.Arg26fs)
NM_001378615.1(CC2D2A):c.79C>T (p.Gln27Ter)
NM_001378615.1(CC2D2A):c.839del (p.Gln280fs)
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_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)
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)
NM_015272.5(RPGRIP1L):c.1150C>T (p.Gln384Ter) rs1968112121
NM_015272.5(RPGRIP1L):c.1171C>T (p.Gln391Ter) rs2151198563
NM_015272.5(RPGRIP1L):c.1213G>T (p.Glu405Ter)
NM_015272.5(RPGRIP1L):c.1217del (p.Ile406fs)
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)
NM_015272.5(RPGRIP1L):c.1252G>T (p.Glu418Ter) rs1967512180
NM_015272.5(RPGRIP1L):c.1271del (p.Asn424fs)
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)
NM_015272.5(RPGRIP1L):c.1340del (p.Leu447fs)
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)
NM_015272.5(RPGRIP1L):c.1464del (p.Asn488fs)
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)
NM_015272.5(RPGRIP1L):c.1692del (p.Lys564fs)
NM_015272.5(RPGRIP1L):c.1702C>T (p.Gln568Ter)
NM_015272.5(RPGRIP1L):c.1708_1709insTT (p.Lys570fs)
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)
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.1873G>T (p.Gly625Ter) rs1156977888
NM_015272.5(RPGRIP1L):c.1914T>A (p.Tyr638Ter)
NM_015272.5(RPGRIP1L):c.1920dup (p.Glu641Ter) rs2151126581
NM_015272.5(RPGRIP1L):c.1951del (p.Leu651fs)
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)
NM_015272.5(RPGRIP1L):c.2009dup (p.Leu670fs)
NM_015272.5(RPGRIP1L):c.2018_2021dup (p.Gln674fs)
NM_015272.5(RPGRIP1L):c.2092_2095del (p.Leu698fs)
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)
NM_015272.5(RPGRIP1L):c.2221C>T (p.Gln741Ter)
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)
NM_015272.5(RPGRIP1L):c.2262del (p.Tyr755fs)
NM_015272.5(RPGRIP1L):c.2288dup (p.Glu764fs)
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
NM_015272.5(RPGRIP1L):c.2322del (p.Thr776fs) rs1253568005
NM_015272.5(RPGRIP1L):c.2332C>T (p.Gln778Ter)
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)
NM_015272.5(RPGRIP1L):c.2432del (p.Pro811fs) rs1966511029
NM_015272.5(RPGRIP1L):c.2435_2436dup (p.Pro813fs)
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)
NM_015272.5(RPGRIP1L):c.2566del (p.Lys857fs)
NM_015272.5(RPGRIP1L):c.256_259del (p.Val86fs) rs751020468
NM_015272.5(RPGRIP1L):c.2573C>A (p.Ser858Ter)
NM_015272.5(RPGRIP1L):c.2576_2577del (p.Glu859fs)
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)
NM_015272.5(RPGRIP1L):c.2851_2863del (p.Ser951fs)
NM_015272.5(RPGRIP1L):c.2855_2856del (p.Ser952fs) rs2151058791
NM_015272.5(RPGRIP1L):c.2920A>T (p.Lys974Ter)
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)
NM_015272.5(RPGRIP1L):c.299del (p.Lys100fs)
NM_015272.5(RPGRIP1L):c.3067C>T (p.Gln1023Ter)
NM_015272.5(RPGRIP1L):c.3141_3144del (p.Ser1048fs)
NM_015272.5(RPGRIP1L):c.3160G>T (p.Glu1054Ter)
NM_015272.5(RPGRIP1L):c.3208_3214del (p.Leu1070fs)
NM_015272.5(RPGRIP1L):c.3257_3258del (p.Cys1086fs)
NM_015272.5(RPGRIP1L):c.325G>T (p.Glu109Ter)
NM_015272.5(RPGRIP1L):c.3277del (p.Ser1093fs)
NM_015272.5(RPGRIP1L):c.3299_3300dup (p.Ala1101fs) rs797045104
NM_015272.5(RPGRIP1L):c.3380del (p.Pro1127fs)
NM_015272.5(RPGRIP1L):c.3430C>T (p.Gln1144Ter)
NM_015272.5(RPGRIP1L):c.3439G>T (p.Glu1147Ter)
NM_015272.5(RPGRIP1L):c.3445dup (p.Ile1149fs)
NM_015272.5(RPGRIP1L):c.3457del (p.Ile1153fs)
NM_015272.5(RPGRIP1L):c.3461dup (p.Ala1155fs) rs1964561986
NM_015272.5(RPGRIP1L):c.3558_3559del (p.Pro1187fs)
NM_015272.5(RPGRIP1L):c.3558_3559dup (p.Pro1187fs) rs1200131247
NM_015272.5(RPGRIP1L):c.3593G>A (p.Trp1198Ter)
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)
NM_015272.5(RPGRIP1L):c.3682C>T (p.Gln1228Ter)
NM_015272.5(RPGRIP1L):c.377_378insGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAAACAAAA (p.Asn126fs)
NM_015272.5(RPGRIP1L):c.377del (p.Asn126fs)
NM_015272.5(RPGRIP1L):c.394A>T (p.Arg132Ter) rs121918201
NM_015272.5(RPGRIP1L):c.414del (p.Gln138fs)
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)
NM_015272.5(RPGRIP1L):c.528del (p.Gly177fs) rs1970421631
NM_015272.5(RPGRIP1L):c.541C>T (p.Gln181Ter)
NM_015272.5(RPGRIP1L):c.550_551insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATTCCAAGATGCAG (p.Asp184delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer) rs2151325681
NM_015272.5(RPGRIP1L):c.591_598del (p.Asn198fs)
NM_015272.5(RPGRIP1L):c.591del (p.Asn198fs) rs1283508618
NM_015272.5(RPGRIP1L):c.599T>G (p.Leu200Ter) rs564992297
NM_015272.5(RPGRIP1L):c.616G>T (p.Gly206Ter)
NM_015272.5(RPGRIP1L):c.632T>A (p.Leu211Ter)
NM_015272.5(RPGRIP1L):c.647del (p.Gln216fs)
NM_015272.5(RPGRIP1L):c.659del (p.Gly220fs)
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)
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)
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)
NM_015272.5(RPGRIP1L):c.839del (p.Asn280fs)
NM_015272.5(RPGRIP1L):c.883_884insT (p.Lys295fs)
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)
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_015681.6(B9D1):c.391C>T (p.Gln131Ter)
NM_017777.4(MKS1):c.1024+1G>T
NM_017777.4(MKS1):c.1028G>A (p.Trp343Ter)
NM_017777.4(MKS1):c.1045C>T (p.Gln349Ter)
NM_017777.4(MKS1):c.1058del (p.Gly353fs)
NM_017777.4(MKS1):c.1071del (p.Cys358fs) rs762377424
NM_017777.4(MKS1):c.1074C>A (p.Cys358Ter)
NM_017777.4(MKS1):c.1090dup (p.Ala364fs)
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017777.4(MKS1):c.111dup (p.Phe38fs)
NM_017777.4(MKS1):c.1126dup (p.Thr376fs) rs2143753386
NM_017777.4(MKS1):c.114dup (p.Leu39fs)
NM_017777.4(MKS1):c.1158del (p.Glu386fs)
NM_017777.4(MKS1):c.119_126dup (p.Pro43fs)
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)
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.1408-14A>G
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)
NM_017777.4(MKS1):c.1483C>T (p.Gln495Ter) rs2143737457
NM_017777.4(MKS1):c.149del (p.Asp50fs)
NM_017777.4(MKS1):c.1532_1533insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAAGGATGCGGAG (p.Ser511fs)
NM_017777.4(MKS1):c.161T>A (p.Leu54Ter) rs2143838681
NM_017777.4(MKS1):c.17G>A (p.Trp6Ter)
NM_017777.4(MKS1):c.184_190del (p.Thr62fs) rs386834046
NM_017777.4(MKS1):c.203del (p.Pro68fs)
NM_017777.4(MKS1):c.205G>T (p.Glu69Ter)
NM_017777.4(MKS1):c.233T>G (p.Ile78Ser) rs786204222
NM_017777.4(MKS1):c.240G>A (p.Trp80Ter)
NM_017777.4(MKS1):c.297T>A (p.Cys99Ter)
NM_017777.4(MKS1):c.2T>A (p.Met1Lys)
NM_017777.4(MKS1):c.2T>C (p.Met1Thr)
NM_017777.4(MKS1):c.301_302dup (p.Ser101fs)
NM_017777.4(MKS1):c.34G>T (p.Glu12Ter) rs1183365510
NM_017777.4(MKS1):c.384C>A (p.Tyr128Ter)
NM_017777.4(MKS1):c.417+1G>A rs756368560
NM_017777.4(MKS1):c.417+1G>T rs756368560
NM_017777.4(MKS1):c.458C>A (p.Ser153Ter) rs903778224
NM_017777.4(MKS1):c.469G>T (p.Glu157Ter) rs200970148
NM_017777.4(MKS1):c.492_497del (p.Arg165_Arg166del)
NM_017777.4(MKS1):c.499C>T (p.Gln167Ter) rs1215189491
NM_017777.4(MKS1):c.515+2T>C rs1376664664
NM_017777.4(MKS1):c.517G>T (p.Glu173Ter)
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)
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)
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)
NM_017777.4(MKS1):c.812dup (p.His271fs)
NM_017777.4(MKS1):c.81_82del
NM_017777.4(MKS1):c.829G>T (p.Glu277Ter) rs1555599412
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_024809.5(TCTN2):c.1250_1251del (p.Arg417fs) rs2135847212
NM_024809.5(TCTN2):c.1317C>G (p.Tyr439Ter)
NM_024809.5(TCTN2):c.1329del (p.Lys443fs)
NM_024809.5(TCTN2):c.1436T>G (p.Leu479Ter)
NM_024809.5(TCTN2):c.1498del (p.Gln500fs)
NM_024809.5(TCTN2):c.1743_1744delinsTT (p.Gln581_Gln582delinsHisTer)
NM_024809.5(TCTN2):c.184G>T (p.Glu62Ter)
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)
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)
NM_024809.5(TCTN2):c.898del (p.Leu300fs)
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)
NM_025114.4(CEP290):c.1039A>T (p.Lys347Ter)
NM_025114.4(CEP290):c.1060C>T (p.Gln354Ter) rs2138021345
NM_025114.4(CEP290):c.106G>T (p.Glu36Ter)
NM_025114.4(CEP290):c.1072C>T (p.Gln358Ter) rs1592656929
NM_025114.4(CEP290):c.1096del (p.Met366fs)
NM_025114.4(CEP290):c.1163T>A (p.Leu388Ter)
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
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)
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)
NM_025114.4(CEP290):c.1296_1299dup (p.Ala434Ter)
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)
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)
NM_025114.4(CEP290):c.1451del (p.Lys484fs) rs386834149
NM_025114.4(CEP290):c.1480del (p.Ser494fs)
NM_025114.4(CEP290):c.1501G>T (p.Glu501Ter)
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)
NM_025114.4(CEP290):c.1550dup (p.Leu517fs) rs62640579
NM_025114.4(CEP290):c.1585C>T (p.Gln529Ter)
NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter) rs1465414886
NM_025114.4(CEP290):c.1616del (p.Leu538_Leu539insTer)
NM_025114.4(CEP290):c.1623+1G>A rs863225186
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)
NM_025114.4(CEP290):c.1709C>G (p.Ser570Ter) rs1272411609
NM_025114.4(CEP290):c.1711+2T>A
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)
NM_025114.4(CEP290):c.1790_1805del (p.Leu596_Leu597insTer)
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)
NM_025114.4(CEP290):c.1805del (p.Met602fs)
NM_025114.4(CEP290):c.180G>A (p.Lys60=)
NM_025114.4(CEP290):c.1816C>T (p.Gln606Ter)
NM_025114.4(CEP290):c.1830del (p.Glu610fs) rs992032116
NM_025114.4(CEP290):c.1844_1845dup (p.Leu616fs)
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)
NM_025114.4(CEP290):c.1992del (p.Pro665fs) rs770175184
NM_025114.4(CEP290):c.1A>G (p.Met1Val) rs2040644756
NM_025114.4(CEP290):c.2047_2050del (p.Val683fs)
NM_025114.4(CEP290):c.2052+1_2052+2del rs747835249
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)
NM_025114.4(CEP290):c.2149C>T (p.Gln717Ter)
NM_025114.4(CEP290):c.214G>T (p.Glu72Ter)
NM_025114.4(CEP290):c.2191C>T (p.Gln731Ter)
NM_025114.4(CEP290):c.2194C>T (p.Gln732Ter)
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.223A>G (p.Lys75Glu) rs779010679
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)
NM_025114.4(CEP290):c.2268_2284del (p.Asn757_Val758insTer)
NM_025114.4(CEP290):c.2340_2341del (p.Gln780_Asn781insTer)
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)
NM_025114.4(CEP290):c.2433del (p.Lys811fs) rs2137663442
NM_025114.4(CEP290):c.2455C>T (p.Gln819Ter)
NM_025114.4(CEP290):c.2484-2A>C
NM_025114.4(CEP290):c.2497del (p.Trp833fs) rs2137624524
NM_025114.4(CEP290):c.2499G>A (p.Trp833Ter) rs2137624440
NM_025114.4(CEP290):c.2506_2507del (p.Glu836fs) rs1223251937
NM_025114.4(CEP290):c.254del (p.Asn85fs)
NM_025114.4(CEP290):c.254dup (p.Asn85fs) rs2138259100
NM_025114.4(CEP290):c.2554C>T (p.Gln852Ter)
NM_025114.4(CEP290):c.2557C>T (p.Gln853Ter) rs2038335853
NM_025114.4(CEP290):c.2567dup (p.Val858fs)
NM_025114.4(CEP290):c.2569A>T (p.Lys857Ter)
NM_025114.4(CEP290):c.256_259del (p.Asn85_Gln86insTer) rs2138258864
NM_025114.4(CEP290):c.2571del (p.Lys857_Val858insTer)
NM_025114.4(CEP290):c.2578G>T (p.Glu860Ter)
NM_025114.4(CEP290):c.2587-1G>A
NM_025114.4(CEP290):c.2587-1G>T
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs) rs1221464366
NM_025114.4(CEP290):c.2615C>A (p.Ser872Ter)
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)
NM_025114.4(CEP290):c.2682del (p.Lys894fs)
NM_025114.4(CEP290):c.2689dup (p.Ile897fs)
NM_025114.4(CEP290):c.2695C>T (p.Gln899Ter)
NM_025114.4(CEP290):c.270_274del (p.Lys90fs)
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)
NM_025114.4(CEP290):c.2746A>T (p.Lys916Ter)
NM_025114.4(CEP290):c.274_280del (p.Met92fs) rs2138258171
NM_025114.4(CEP290):c.2801_2802del (p.Cys934fs)
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)
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter) rs1057518822
NM_025114.4(CEP290):c.2958del (p.Val987fs)
NM_025114.4(CEP290):c.297+1G>A rs878853360
NM_025114.4(CEP290):c.297+1G>C
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.3123dup (p.Lys1042Ter) rs1555212271
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)
NM_025114.4(CEP290):c.3285del (p.Phe1095fs) rs1017496924
NM_025114.4(CEP290):c.3286G>T (p.Glu1096Ter)
NM_025114.4(CEP290):c.3309G>A (p.Glu1103=)
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.3422dup (p.Leu1141fs) rs770474857
NM_025114.4(CEP290):c.3451G>T (p.Glu1151Ter)
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)
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)
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)
NM_025114.4(CEP290):c.369del (p.Gln123fs) rs773622064
NM_025114.4(CEP290):c.3721A>T (p.Lys1241Ter)
NM_025114.4(CEP290):c.3730G>T (p.Glu1244Ter) rs2137277291
NM_025114.4(CEP290):c.3738del (p.Glu1246fs)
NM_025114.4(CEP290):c.3741_3752dup (p.Tyr1251Ter)
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)
NM_025114.4(CEP290):c.3803del (p.Gln1268fs) rs2036830890
NM_025114.4(CEP290):c.3808_3809del (p.Leu1270fs) rs1565846034
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter) rs62640581
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)
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)
NM_025114.4(CEP290):c.3917del (p.Asn1306fs)
NM_025114.4(CEP290):c.3925C>T (p.Gln1309Ter) rs2036816455
NM_025114.4(CEP290):c.3934A>T (p.Arg1312Ter) rs774705706
NM_025114.4(CEP290):c.3956del (p.Leu1319fs) rs2137269723
NM_025114.4(CEP290):c.3988G>T (p.Glu1330Ter)
NM_025114.4(CEP290):c.3992T>A (p.Leu1331Ter)
NM_025114.4(CEP290):c.4028del (p.Lys1343fs) rs1213286417
NM_025114.4(CEP290):c.4040G>A (p.Trp1347Ter) rs1339975972
NM_025114.4(CEP290):c.4041G>A (p.Trp1347Ter) rs2137251821
NM_025114.4(CEP290):c.4057G>T (p.Glu1353Ter)
NM_025114.4(CEP290):c.4069C>T (p.Gln1357Ter)
NM_025114.4(CEP290):c.4076_4077del (p.Leu1359fs)
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)
NM_025114.4(CEP290):c.4115_4116del (p.Ile1372fs) rs62640582
NM_025114.4(CEP290):c.4115_4118del (p.Ile1372fs)
NM_025114.4(CEP290):c.4121del (p.Tyr1374fs)
NM_025114.4(CEP290):c.4124T>A (p.Leu1375Ter)
NM_025114.4(CEP290):c.4133_4134del (p.Ile1378fs)
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)
NM_025114.4(CEP290):c.420del (p.Glu141fs)
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)
NM_025114.4(CEP290):c.4384G>T (p.Glu1462Ter)
NM_025114.4(CEP290):c.4384del (p.Glu1462fs) rs863225182
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs) rs780624853
NM_025114.4(CEP290):c.4453G>T (p.Glu1485Ter)
NM_025114.4(CEP290):c.4535del (p.Thr1512fs)
NM_025114.4(CEP290):c.4561G>T (p.Glu1521Ter)
NM_025114.4(CEP290):c.4562dup (p.Leu1522fs)
NM_025114.4(CEP290):c.4576G>T (p.Glu1526Ter)
NM_025114.4(CEP290):c.457G>T (p.Glu153Ter)
NM_025114.4(CEP290):c.4621del (p.Thr1541fs) rs587779733
NM_025114.4(CEP290):c.4634_4637dup (p.Gln1546fs)
NM_025114.4(CEP290):c.4648_4649insCA (p.Asn1550fs) rs2137183334
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)
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)
NM_025114.4(CEP290):c.4808_4812del (p.Ala1603fs) rs2036372197
NM_025114.4(CEP290):c.4820dup (p.Met1607fs)
NM_025114.4(CEP290):c.4825C>T (p.Gln1609Ter) rs2137156392
NM_025114.4(CEP290):c.4825_4826del (p.Gln1609fs)
NM_025114.4(CEP290):c.4834_4835del (p.Thr1612fs) rs1207944612
NM_025114.4(CEP290):c.483del (p.Lys161fs)
NM_025114.4(CEP290):c.4855dup (p.His1619fs)
NM_025114.4(CEP290):c.4864_4865delinsT (p.Arg1622fs) rs2036318355
NM_025114.4(CEP290):c.4879G>T (p.Glu1627Ter)
NM_025114.4(CEP290):c.4879dup (p.Glu1627fs)
NM_025114.4(CEP290):c.4897C>T (p.Gln1633Ter)
NM_025114.4(CEP290):c.4909_4910del (p.Leu1637fs)
NM_025114.4(CEP290):c.4916C>A (p.Ser1639Ter)
NM_025114.4(CEP290):c.4933A>T (p.Lys1645Ter)
NM_025114.4(CEP290):c.4943_4944insTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCCACAGCCAATATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAAGTATC (p.Gln1649_Asp1650insTerGln)
NM_025114.4(CEP290):c.4945C>T (p.Gln1649Ter) rs2137152484
NM_025114.4(CEP290):c.4954G>T (p.Glu1652Ter)
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs) rs764309755
NM_025114.4(CEP290):c.4963del (p.Arg1655fs)
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)
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)
NM_025114.4(CEP290):c.5086C>T (p.Gln1696Ter)
NM_025114.4(CEP290):c.5092C>T (p.Gln1698Ter)
NM_025114.4(CEP290):c.5098G>T (p.Glu1700Ter)
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)
NM_025114.4(CEP290):c.5136_5139del (p.Glu1713fs) rs995093343
NM_025114.4(CEP290):c.5137G>T (p.Glu1713Ter)
NM_025114.4(CEP290):c.5147C>A (p.Ser1716Ter)
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)
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)
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)
NM_025114.4(CEP290):c.5418_5422del (p.Lys1806_Thr1807insTer)
NM_025114.4(CEP290):c.5423_5426del (p.Ser1808fs)
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)
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.5509_5512del (p.Leu1837fs)
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)
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)
NM_025114.4(CEP290):c.558_561del (p.Asp188fs)
NM_025114.4(CEP290):c.5596del (p.Pro1865_Leu1866insTer)
NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs) rs727503853
NM_025114.4(CEP290):c.5614del (p.Ser1872fs)
NM_025114.4(CEP290):c.5632C>T (p.Gln1878Ter) rs2137050478
NM_025114.4(CEP290):c.5649dup (p.Leu1884fs) rs281865188
NM_025114.4(CEP290):c.5709+1G>A rs759850328
NM_025114.4(CEP290):c.5709+2T>G
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)
NM_025114.4(CEP290):c.5750del (p.Lys1917fs)
NM_025114.4(CEP290):c.5754G>A (p.Trp1918Ter)
NM_025114.4(CEP290):c.5766_5769del (p.Ile1922fs)
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)
NM_025114.4(CEP290):c.579_580del (p.Leu194fs)
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter) rs886042360
NM_025114.4(CEP290):c.5805dup (p.Val1936fs)
NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs) rs62638180
NM_025114.4(CEP290):c.5816dup (p.Leu1939fs)
NM_025114.4(CEP290):c.5828del (p.Gln1942_Leu1943insTer)
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)
NM_025114.4(CEP290):c.5931_5935del (p.Arg1978fs) rs1555201796
NM_025114.4(CEP290):c.5953G>T (p.Glu1985Ter)
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)
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)
NM_025114.4(CEP290):c.6170_6173del (p.Arg2057fs)
NM_025114.4(CEP290):c.6175C>T (p.Gln2059Ter)
NM_025114.4(CEP290):c.6187A>T (p.Lys2063Ter) rs2136814350
NM_025114.4(CEP290):c.6249_6252del (p.Asn2083fs)
NM_025114.4(CEP290):c.6271-8T>G rs1039146791
NM_025114.4(CEP290):c.635_636insG (p.Asn212fs)
NM_025114.4(CEP290):c.635_636insT (p.Tyr213fs)
NM_025114.4(CEP290):c.635del (p.Asn212fs)
NM_025114.4(CEP290):c.635dup (p.Asn212fs) rs769091629
NM_025114.4(CEP290):c.6360dup (p.Gly2121fs)
NM_025114.4(CEP290):c.6377_6378del (p.Thr2126fs)
NM_025114.4(CEP290):c.6417dup (p.Val2140fs)
NM_025114.4(CEP290):c.6418_6419insC (p.Val2140fs) rs2136751258
NM_025114.4(CEP290):c.6424dup (p.Glu2142fs)
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.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)
NM_025114.4(CEP290):c.6645del (p.Glu2216fs) rs2136724878
NM_025114.4(CEP290):c.664del (p.Ile222fs) rs2138093868
NM_025114.4(CEP290):c.6661G>T (p.Glu2221Ter)
NM_025114.4(CEP290):c.6760dup (p.Arg2254fs) rs2034235109
NM_025114.4(CEP290):c.6769C>T (p.Gln2257Ter) rs2136704614
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)
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)
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)
NM_025114.4(CEP290):c.694dup (p.Ile232fs)
NM_025114.4(CEP290):c.6992del (p.Ala2331fs)
NM_025114.4(CEP290):c.6994G>T (p.Glu2332Ter) rs1414041522
NM_025114.4(CEP290):c.7003dup (p.Gln2335fs)
NM_025114.4(CEP290):c.7015del (p.Arg2339fs)
NM_025114.4(CEP290):c.7027del (p.Val2343fs) rs2033827549
NM_025114.4(CEP290):c.7031_7034+7delinsAT
NM_025114.4(CEP290):c.7081C>T (p.Gln2361Ter)
NM_025114.4(CEP290):c.7127del (p.Pro2376fs)
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)
NM_025114.4(CEP290):c.718A>T (p.Arg240Ter)
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter) rs1478582091
NM_025114.4(CEP290):c.7209+1G>A
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)
NM_025114.4(CEP290):c.7263del (p.Phe2421fs)
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)
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)
NM_025114.4(CEP290):c.816del (p.Gln273fs)
NM_025114.4(CEP290):c.817C>T (p.Gln273Ter)
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)
NM_025114.4(CEP290):c.850C>T (p.Gln284Ter)
NM_025114.4(CEP290):c.881C>A (p.Ser294Ter)
NM_025114.4(CEP290):c.955del (p.Ser319fs) rs764507012
NM_025114.4(CEP290):c.976_979del (p.Glu326fs)
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)
NM_153704.6(TMEM67):c.1247T>A (p.Leu416Ter)
NM_153704.6(TMEM67):c.1285C>T (p.Gln429Ter)
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
NM_153704.6(TMEM67):c.1413-1G>C rs386834185
NM_153704.6(TMEM67):c.1519-1G>A
NM_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys) rs137853107
NM_153704.6(TMEM67):c.1576-1G>A
NM_153704.6(TMEM67):c.157C>T (p.Gln53Ter)
NM_153704.6(TMEM67):c.161_188del (p.Tyr54fs)
NM_153704.6(TMEM67):c.1621_1622del (p.Leu541fs)
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.1704dup (p.Gly569fs)
NM_153704.6(TMEM67):c.1730_1733del (p.Ile577fs)
NM_153704.6(TMEM67):c.1788_1789del (p.Ser597fs)
NM_153704.6(TMEM67):c.1833_1834del (p.Tyr612fs)
NM_153704.6(TMEM67):c.1942_1951del (p.Val648fs)
NM_153704.6(TMEM67):c.1964_1965dup (p.Gly656fs)
NM_153704.6(TMEM67):c.1968_1969del (p.Gly657fs)
NM_153704.6(TMEM67):c.1987_1988del (p.Val663fs)
NM_153704.6(TMEM67):c.2069_2070del (p.Phe690fs)
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)
NM_153704.6(TMEM67):c.2239C>T (p.Gln747Ter)
NM_153704.6(TMEM67):c.224-2A>T rs768412278
NM_153704.6(TMEM67):c.2302dup (p.Asp768fs)
NM_153704.6(TMEM67):c.2314_2322+4delinsGG rs1064792983
NM_153704.6(TMEM67):c.2326T>G (p.Ser776Ala)
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)
NM_153704.6(TMEM67):c.242_245del (p.Leu81fs)
NM_153704.6(TMEM67):c.245C>G (p.Pro82Arg) rs772437766
NM_153704.6(TMEM67):c.2521C>T (p.Gln841Ter)
NM_153704.6(TMEM67):c.2556+1G>A
NM_153704.6(TMEM67):c.267_294del (p.Asn89fs)
NM_153704.6(TMEM67):c.312+2T>G rs2130528812
NM_153704.6(TMEM67):c.322dup (p.Thr108fs)
NM_153704.6(TMEM67):c.329A>G (p.Asp110Gly)
NM_153704.6(TMEM67):c.370G>A (p.Glu124Lys) rs375824494
NM_153704.6(TMEM67):c.459_460del (p.Cys153_Asp154delinsTer)
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.517T>C (p.Cys173Arg) rs138783896
NM_153704.6(TMEM67):c.579del (p.Gly195fs) rs386834203
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)
NM_153704.6(TMEM67):c.877_880del (p.Asn293fs)
NM_153704.6(TMEM67):c.924_925insTGAGGAGTGTCTCTGCCCGGCCGCTCCGTCTGAGAAGTGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGGATTAGCACCTCAA (p.Val309Ter) rs2130664400
NM_153704.6(TMEM67):c.996_1014del (p.Phe332fs) rs2130668581

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