ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome; Meckel-Gruber syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 683
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HGVS dbSNP gnomAD frequency
NM_001378615.1(CC2D2A):c.1762C>T (p.Gln588Ter) rs116358011 0.00057
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_015681.6(B9D1):c.151T>C (p.Ser51Pro) rs546359789 0.00011
NM_153704.6(TMEM67):c.224-2del rs386834190 0.00010
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_001378615.1(CC2D2A):c.1017+1G>A rs200407856 0.00008
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_153704.6(TMEM67):c.579_580del (p.Gly195fs) rs386834202 0.00006
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr) rs202149403 0.00006
NM_001082538.3(TCTN1):c.822+1G>A rs374065616 0.00005
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) rs121918203 0.00005
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.697A>T (p.Lys233Ter) rs121918197 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_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_017777.4(MKS1):c.1476T>G (p.Cys492Trp) rs137853105 0.00003
NM_017777.4(MKS1):c.1600C>T (p.Arg534Ter) rs772719574 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_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_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.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_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_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_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.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_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_015681.6(B9D1):c.467G>A (p.Arg156Gln) rs886038205 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_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_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_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_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_000012.12:g.(?_110626342)_(110642409_?)del
NC_000012.12:g.(?_123699684)_(123699830_?)del
NC_000016.10:g.(?_53619015)_(53622366_?)del
NC_000016.10:g.(?_53619025)_(53622456_?)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_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_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_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_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_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_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_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_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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