ClinVar Miner

List of variants reported as uncertain significance for Leber congenital amaurosis by Invitae

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2399
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HGVS dbSNP gnomAD frequency
NM_201253.3(CRB1):c.3750-3T>C rs187937543 0.00063
NM_000180.4(GUCY2D):c.1081G>A (p.Val361Met) rs186508466 0.00057
NM_001164688.2(RD3):c.259A>G (p.Lys87Glu) rs200585050 0.00057
NM_152443.3(RDH12):c.85G>A (p.Gly29Arg) rs115455005 0.00054
NM_000180.4(GUCY2D):c.2179G>A (p.Gly727Ser) rs146820642 0.00053
NM_014336.5(AIPL1):c.323C>T (p.Ala108Val) rs149124329 0.00051
NM_020366.4(RPGRIP1):c.3358A>G (p.Ile1120Val) rs137853911 0.00051
NM_000180.4(GUCY2D):c.3042G>A (p.Leu1014=) rs139019420 0.00050
NM_020366.4(RPGRIP1):c.1796C>T (p.Pro599Leu) rs368192802 0.00048
NM_001164688.2(RD3):c.325C>T (p.Pro109Ser) rs368257358 0.00044
NM_018418.5(SPATA7):c.1490A>G (p.Lys497Arg) rs142122029 0.00041
NM_152443.3(RDH12):c.301G>A (p.Asp101Asn) rs148334092 0.00037
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp) rs145141811 0.00035
NM_020366.4(RPGRIP1):c.2665G>A (p.Ala889Thr) rs184926375 0.00031
NM_020366.4(RPGRIP1):c.376G>C (p.Gly126Arg) rs375226924 0.00030
NM_001164688.2(RD3):c.202C>T (p.Arg68Trp) rs144697496 0.00025
NM_020366.4(RPGRIP1):c.2075A>G (p.His692Arg) rs200401966 0.00023
NM_020366.4(RPGRIP1):c.913G>A (p.Glu305Lys) rs752956324 0.00023
NM_018418.5(SPATA7):c.1112T>C (p.Ile371Thr) rs150364664 0.00022
NM_201253.3(CRB1):c.1450A>G (p.Thr484Ala) rs144029476 0.00022
NM_000180.4(GUCY2D):c.1984G>A (p.Val662Met) rs143585840 0.00021
NM_000554.6(CRX):c.778G>A (p.Ala260Thr) rs370592248 0.00021
NM_018418.5(SPATA7):c.364T>A (p.Leu122Ile) rs202230167 0.00021
NM_020366.4(RPGRIP1):c.218+6T>C rs370643056 0.00021
NM_020366.4(RPGRIP1):c.3505G>C (p.Glu1169Gln) rs201191634 0.00021
NM_000554.6(CRX):c.203C>T (p.Ala68Val) rs145649717 0.00020
NM_020366.4(RPGRIP1):c.907G>A (p.Ala303Thr) rs200168103 0.00020
NM_000180.4(GUCY2D):c.1499C>T (p.Pro500Leu) rs200211315 0.00019
NM_000180.4(GUCY2D):c.2318T>C (p.Met773Thr) rs143650826 0.00019
NM_001001557.4(GDF6):c.574C>T (p.Leu192Phe) rs565877093 0.00019
NM_001164688.2(RD3):c.101C>T (p.Thr34Met) rs148242709 0.00019
NM_201253.3(CRB1):c.4060G>A (p.Ala1354Thr) rs200469148 0.00019
NM_001164688.2(RD3):c.31G>A (p.Glu11Lys) rs145054188 0.00018
NM_020366.4(RPGRIP1):c.1991A>G (p.His664Arg) rs767180524 0.00018
NM_020366.4(RPGRIP1):c.3644C>T (p.Pro1215Leu) rs1295657393 0.00018
NM_014336.5(AIPL1):c.1108C>T (p.Pro370Ser) rs139079107 0.00017
NM_018418.5(SPATA7):c.1717A>G (p.Lys573Glu) rs148392950 0.00017
NM_152443.3(RDH12):c.317G>A (p.Arg106Gln) rs150812168 0.00017
NM_152443.3(RDH12):c.577C>T (p.Arg193Cys) rs148629905 0.00017
NM_018418.5(SPATA7):c.1483A>G (p.Ile495Val) rs1284148609 0.00016
NM_020366.4(RPGRIP1):c.161G>A (p.Arg54His) rs376250340 0.00016
NM_020366.4(RPGRIP1):c.968T>C (p.Leu323Pro) rs199982906 0.00016
NM_020366.4(RPGRIP1):c.2942G>A (p.Arg981Gln) rs376213645 0.00015
NM_001001557.4(GDF6):c.878T>C (p.Met293Thr) rs762304422 0.00014
NM_018418.5(SPATA7):c.245A>G (p.Asp82Gly) rs376502749 0.00014
NM_018418.5(SPATA7):c.932A>G (p.Tyr311Cys) rs140107720 0.00014
NM_020366.4(RPGRIP1):c.1761T>C (p.Ser587=) rs559041866 0.00014
NM_020366.4(RPGRIP1):c.3402_3404del (p.Met1134_Ser1135delinsIle) rs774522001 0.00014
NM_000180.4(GUCY2D):c.1979G>A (p.Arg660Gln) rs61750162 0.00013
NM_000180.4(GUCY2D):c.991C>A (p.Arg331Ser) rs34596269 0.00013
NM_000329.3(RPE65):c.298A>C (p.Ile100Leu) rs142626873 0.00013
NM_020366.4(RPGRIP1):c.1904C>G (p.Ala635Gly) rs200325360 0.00012
NM_000180.4(GUCY2D):c.1297C>G (p.Arg433Gly) rs769749617 0.00011
NM_000180.4(GUCY2D):c.3014C>T (p.Thr1005Ile) rs150185423 0.00011
NM_000180.4(GUCY2D):c.3238G>C (p.Gly1080Arg) rs371919912 0.00011
NM_020366.4(RPGRIP1):c.2063C>T (p.Ser688Leu) rs543867152 0.00011
NM_020366.4(RPGRIP1):c.491-3T>C rs749376395 0.00011
NM_022787.4(NMNAT1):c.589A>G (p.Ile197Val) rs145908106 0.00011
NM_152443.3(RDH12):c.569G>A (p.Ser190Asn) rs371107041 0.00011
NM_201253.3(CRB1):c.2488A>T (p.Ile830Phe) rs779451259 0.00011
NM_201253.3(CRB1):c.4030A>G (p.Ile1344Val) rs111761880 0.00011
NM_201253.3(CRB1):c.679G>A (p.Glu227Lys) rs190037839 0.00011
NM_000180.4(GUCY2D):c.121C>T (p.Leu41Phe) rs61749664 0.00010
NM_018418.5(SPATA7):c.1033A>G (p.Met345Val) rs375371982 0.00010
NM_018418.5(SPATA7):c.1606A>G (p.Thr536Ala) rs200231959 0.00010
NM_000180.4(GUCY2D):c.145G>T (p.Ala49Ser) rs771232307 0.00009
NM_000180.4(GUCY2D):c.3220C>T (p.Pro1074Ser) rs138869083 0.00009
NM_000329.3(RPE65):c.902A>G (p.Asn301Ser) rs201075875 0.00009
NM_000554.6(CRX):c.790G>A (p.Val264Met) rs138146799 0.00009
NM_001164688.2(RD3):c.404C>T (p.Ala135Val) rs909555536 0.00009
NM_001164688.2(RD3):c.43C>T (p.Arg15Trp) rs376558739 0.00009
NM_018418.5(SPATA7):c.1067G>A (p.Arg356His) rs151154007 0.00009
NM_018418.5(SPATA7):c.1425G>T (p.Leu475Phe) rs181052380 0.00009
NM_018418.5(SPATA7):c.1622T>C (p.Ile541Thr) rs139510848 0.00009
NM_020366.4(RPGRIP1):c.2869G>A (p.Glu957Lys) rs199589566 0.00009
NM_152443.3(RDH12):c.68+6T>C rs757501261 0.00009
NM_201253.3(CRB1):c.1829A>G (p.Asn610Ser) rs143655463 0.00009
NM_201253.3(CRB1):c.3809A>G (p.Asn1270Ser) rs138667698 0.00009
NM_000180.4(GUCY2D):c.482C>T (p.Thr161Met) rs1454369607 0.00008
NM_000180.4(GUCY2D):c.887C>A (p.Ala296Asp) rs374679518 0.00008
NM_000329.3(RPE65):c.1070C>A (p.Ala357Asp) rs187198628 0.00008
NM_000329.3(RPE65):c.253C>T (p.Arg85Cys) rs763317722 0.00008
NM_014336.5(AIPL1):c.403G>A (p.Glu135Lys) rs187653323 0.00008
NM_018418.5(SPATA7):c.343T>A (p.Ser115Thr) rs373779457 0.00008
NM_020366.4(RPGRIP1):c.1306+3A>G rs374260998 0.00008
NM_020366.4(RPGRIP1):c.1652A>G (p.Asn551Ser) rs373415938 0.00008
NM_020366.4(RPGRIP1):c.1772A>G (p.Lys591Arg) rs745899255 0.00008
NM_020366.4(RPGRIP1):c.2449G>A (p.Gly817Arg) rs764884763 0.00008
NM_020366.4(RPGRIP1):c.2510C>G (p.Ala837Gly) rs373515194 0.00008
NM_020366.4(RPGRIP1):c.2749G>A (p.Gly917Arg) rs771761377 0.00008
NM_000180.4(GUCY2D):c.140C>T (p.Pro47Leu) rs1014118881 0.00007
NM_000180.4(GUCY2D):c.1868C>T (p.Thr623Met) rs370742162 0.00007
NM_000180.4(GUCY2D):c.2260G>A (p.Glu754Lys) rs747951577 0.00007
NM_000180.4(GUCY2D):c.2441C>T (p.Thr814Met) rs150742659 0.00007
NM_000180.4(GUCY2D):c.3274C>T (p.Arg1092Trp) rs746525316 0.00007
NM_000329.3(RPE65):c.676G>A (p.Val226Ile) rs750099371 0.00007
NM_000554.6(CRX):c.565G>A (p.Ala189Thr) rs142111462 0.00007
NM_018418.5(SPATA7):c.937G>A (p.Ala313Thr) rs143812944 0.00007
NM_020366.4(RPGRIP1):c.2600G>A (p.Arg867Gln) rs375012807 0.00007
NM_020366.4(RPGRIP1):c.2669G>A (p.Arg890Gln) rs374913550 0.00007
NM_201253.3(CRB1):c.2894G>A (p.Ser965Asn) rs1006177908 0.00007
NM_000180.4(GUCY2D):c.451G>A (p.Gly151Ser) rs773849840 0.00006
NM_000180.4(GUCY2D):c.520G>A (p.Ala174Thr) rs978982123 0.00006
NM_000180.4(GUCY2D):c.659C>T (p.Pro220Leu) rs769129492 0.00006
NM_000329.3(RPE65):c.1195G>A (p.Glu399Lys) rs144673747 0.00006
NM_000329.3(RPE65):c.1238G>A (p.Arg413His) rs200950327 0.00006
NM_000554.6(CRX):c.590C>T (p.Pro197Leu) rs761290111 0.00006
NM_001001557.4(GDF6):c.169G>C (p.Asp57His) rs397514725 0.00006
NM_014336.5(AIPL1):c.304C>T (p.Arg102Trp) rs151204387 0.00006
NM_014336.5(AIPL1):c.305G>A (p.Arg102Gln) rs181630986 0.00006
NM_014336.5(AIPL1):c.562C>T (p.Leu188Phe) rs146153236 0.00006
NM_014336.5(AIPL1):c.658G>A (p.Val220Met) rs751994982 0.00006
NM_014336.5(AIPL1):c.784+4C>T rs375600133 0.00006
NM_018418.5(SPATA7):c.1156A>G (p.Asn386Asp) rs138211483 0.00006
NM_018418.5(SPATA7):c.1403A>G (p.Gln468Arg) rs146142429 0.00006
NM_020366.4(RPGRIP1):c.2297A>G (p.Asn766Ser) rs183607403 0.00006
NM_020366.4(RPGRIP1):c.3022G>C (p.Gly1008Arg) rs377551155 0.00006
NM_020366.4(RPGRIP1):c.3064C>T (p.Leu1022Phe) rs367899074 0.00006
NM_020366.4(RPGRIP1):c.310G>C (p.Gly104Arg) rs377018856 0.00006
NM_020366.4(RPGRIP1):c.3221C>G (p.Pro1074Arg) rs372226099 0.00006
NM_020366.4(RPGRIP1):c.3512T>C (p.Ile1171Thr) rs202036914 0.00006
NM_022787.4(NMNAT1):c.397C>A (p.Gln133Lys) rs377325572 0.00006
NM_201253.3(CRB1):c.1471G>A (p.Asp491Asn) rs937362854 0.00006
NM_201253.3(CRB1):c.1945G>A (p.Asp649Asn) rs138936375 0.00006
NM_000180.4(GUCY2D):c.2059C>T (p.His687Tyr) rs751340355 0.00005
NM_000180.4(GUCY2D):c.2281C>T (p.Arg761Trp) rs200637525 0.00005
NM_000329.3(RPE65):c.254G>A (p.Arg85His) rs61752870 0.00005
NM_000329.3(RPE65):c.565G>A (p.Val189Ile) rs752990312 0.00005
NM_000554.6(CRX):c.344G>A (p.Arg115Gln) rs750727986 0.00005
NM_001001557.4(GDF6):c.1322A>G (p.Tyr441Cys) rs752600101 0.00005
NM_001001557.4(GDF6):c.595G>A (p.Ala199Thr) rs387906794 0.00005
NM_001164688.2(RD3):c.134G>A (p.Arg45Gln) rs146921079 0.00005
NM_014336.5(AIPL1):c.1054_1065dup (p.Ala352_Pro355dup) rs776145713 0.00005
NM_018418.5(SPATA7):c.1465A>G (p.Thr489Ala) rs372752890 0.00005
NM_018418.5(SPATA7):c.814C>T (p.Arg272Trp) rs139404133 0.00005
NM_020366.4(RPGRIP1):c.1103A>G (p.Glu368Gly) rs774569329 0.00005
NM_020366.4(RPGRIP1):c.1588C>T (p.Arg530Cys) rs373592510 0.00005
NM_020366.4(RPGRIP1):c.2203G>T (p.Ala735Ser) rs769776142 0.00005
NM_020366.4(RPGRIP1):c.2480G>A (p.Arg827His) rs28937883 0.00005
NM_020366.4(RPGRIP1):c.2512A>G (p.Ile838Val) rs772480252 0.00005
NM_020366.4(RPGRIP1):c.2794C>G (p.Pro932Ala) rs773491339 0.00005
NM_020366.4(RPGRIP1):c.328C>T (p.Arg110Trp) rs765387527 0.00005
NM_020366.4(RPGRIP1):c.353G>A (p.Arg118His) rs369530487 0.00005
NM_022787.4(NMNAT1):c.184C>A (p.Pro62Thr) rs765892459 0.00005
NM_152443.3(RDH12):c.590G>T (p.Gly197Val) rs867284235 0.00005
NM_201253.3(CRB1):c.1982G>T (p.Gly661Val) rs780399679 0.00005
NM_201253.3(CRB1):c.3852G>A (p.Met1284Ile) rs938864433 0.00005
NM_201253.3(CRB1):c.863G>T (p.Cys288Phe) rs148240351 0.00005
NM_000180.4(GUCY2D):c.1220C>T (p.Thr407Met) rs377650196 0.00004
NM_000180.4(GUCY2D):c.1274G>C (p.Gly425Ala) rs375468242 0.00004
NM_000180.4(GUCY2D):c.1288G>A (p.Ala430Thr) rs147586061 0.00004
NM_000180.4(GUCY2D):c.1298G>A (p.Arg433Gln) rs144151076 0.00004
NM_000180.4(GUCY2D):c.1805G>A (p.Arg602Gln) rs747173302 0.00004
NM_000180.4(GUCY2D):c.187G>A (p.Ala63Thr) rs761828482 0.00004
NM_000180.4(GUCY2D):c.1997G>A (p.Arg666Gln) rs147166962 0.00004
NM_000180.4(GUCY2D):c.2009G>A (p.Arg670Gln) rs369222553 0.00004
NM_000180.4(GUCY2D):c.2108C>T (p.Ala703Val) rs577880164 0.00004
NM_000180.4(GUCY2D):c.2162G>A (p.Arg721His) rs141352623 0.00004
NM_000180.4(GUCY2D):c.2165G>A (p.Arg722Gln) rs745426085 0.00004
NM_000180.4(GUCY2D):c.2171C>T (p.Thr724Met) rs561318435 0.00004
NM_000180.4(GUCY2D):c.2608C>A (p.Pro870Thr) rs1009898777 0.00004
NM_000180.4(GUCY2D):c.2831G>A (p.Arg944Gln) rs369527655 0.00004
NM_000180.4(GUCY2D):c.595C>A (p.Arg199Ser) rs917296356 0.00004
NM_000180.4(GUCY2D):c.802C>A (p.Leu268Met) rs780014587 0.00004
NM_000180.4(GUCY2D):c.98T>A (p.Leu33Gln) rs755150485 0.00004
NM_000329.3(RPE65):c.106C>T (p.Leu36Phe) rs371586530 0.00004
NM_000329.3(RPE65):c.1237C>T (p.Arg413Cys) rs369142161 0.00004
NM_000329.3(RPE65):c.1449T>C (p.Asp483=) rs201116540 0.00004
NM_000329.3(RPE65):c.1559T>C (p.Ile520Thr) rs281865291 0.00004
NM_000329.3(RPE65):c.268G>A (p.Val90Ile) rs370076628 0.00004
NM_000329.3(RPE65):c.449A>G (p.Asn150Ser) rs891340302 0.00004
NM_000329.3(RPE65):c.637C>A (p.Gln213Lys) rs777966849 0.00004
NM_000329.3(RPE65):c.845A>G (p.Asn282Ser) rs144612129 0.00004
NM_000554.6(CRX):c.332A>G (p.Gln111Arg) rs760741667 0.00004
NM_000554.6(CRX):c.335C>T (p.Ala112Val) rs61748439 0.00004
NM_000554.6(CRX):c.491G>A (p.Ser164Asn) rs1039194669 0.00004
NM_000554.6(CRX):c.619G>A (p.Ala207Thr) rs376982187 0.00004
NM_000554.6(CRX):c.818C>T (p.Thr273Met) rs281865203 0.00004
NM_000554.6(CRX):c.83A>G (p.Gln28Arg) rs781577708 0.00004
NM_001001557.4(GDF6):c.115T>C (p.Ser39Pro) rs749337343 0.00004
NM_001001557.4(GDF6):c.1282A>G (p.Ile428Val) rs144578143 0.00004
NM_001001557.4(GDF6):c.167G>C (p.Arg56Pro) rs375108591 0.00004
NM_001001557.4(GDF6):c.40A>G (p.Ile14Val) rs773668867 0.00004
NM_001001557.4(GDF6):c.725C>G (p.Ala242Gly) rs886043381 0.00004
NM_001001557.4(GDF6):c.857G>A (p.Arg286His) rs764553577 0.00004
NM_001164688.2(RD3):c.140G>A (p.Arg47His) rs756510440 0.00004
NM_001164688.2(RD3):c.170G>T (p.Gly57Val) rs767481165 0.00004
NM_001164688.2(RD3):c.20T>A (p.Leu7His) rs372790239 0.00004
NM_001164688.2(RD3):c.232C>T (p.Arg78Trp) rs755218137 0.00004
NM_001164688.2(RD3):c.233G>A (p.Arg78Gln) rs199896612 0.00004
NM_001164688.2(RD3):c.297-3C>G rs764677890 0.00004
NM_014336.5(AIPL1):c.1112C>G (p.Ala371Gly) rs745586461 0.00004
NM_014336.5(AIPL1):c.281C>T (p.Thr94Met) rs773203055 0.00004
NM_014336.5(AIPL1):c.538G>A (p.Val180Ile) rs761059176 0.00004
NM_014336.5(AIPL1):c.62C>T (p.Thr21Met) rs376242937 0.00004
NM_014336.5(AIPL1):c.796G>T (p.Ala266Ser) rs200939019 0.00004
NM_014336.5(AIPL1):c.96+18G>A rs756817688 0.00004
NM_018418.5(SPATA7):c.1028+5A>G rs368848333 0.00004
NM_018418.5(SPATA7):c.1571A>G (p.His524Arg) rs1180389700 0.00004
NM_018418.5(SPATA7):c.1711A>G (p.Ser571Gly) rs369285856 0.00004
NM_018418.5(SPATA7):c.206C>T (p.Ser69Leu) rs1416355447 0.00004
NM_018418.5(SPATA7):c.386C>T (p.Pro129Leu) rs374126653 0.00004
NM_018418.5(SPATA7):c.539C>T (p.Pro180Leu) rs777633193 0.00004
NM_018418.5(SPATA7):c.571C>T (p.Arg191Trp) rs768436771 0.00004
NM_018418.5(SPATA7):c.728G>A (p.Arg243His) rs765697401 0.00004
NM_018418.5(SPATA7):c.995T>C (p.Ile332Thr) rs534658921 0.00004
NM_020366.4(RPGRIP1):c.116G>A (p.Ser39Asn) rs376435824 0.00004
NM_020366.4(RPGRIP1):c.2083C>A (p.Gln695Lys) rs377020451 0.00004
NM_020366.4(RPGRIP1):c.2663G>A (p.Arg888Gln) rs559905596 0.00004
NM_020366.4(RPGRIP1):c.295G>C (p.Glu99Gln) rs1436942223 0.00004
NM_020366.4(RPGRIP1):c.3037G>A (p.Val1013Ile) rs1289388105 0.00004
NM_020366.4(RPGRIP1):c.3377C>T (p.Ala1126Val) rs760334377 0.00004
NM_020366.4(RPGRIP1):c.3749-2A>G rs376517859 0.00004
NM_020366.4(RPGRIP1):c.3832A>G (p.Lys1278Glu) rs768759217 0.00004
NM_020366.4(RPGRIP1):c.432A>G (p.Gln144=) rs751684215 0.00004
NM_020366.4(RPGRIP1):c.437G>A (p.Gly146Glu) rs755600406 0.00004
NM_022787.4(NMNAT1):c.213A>C (p.Glu71Asp) rs201020918 0.00004
NM_022787.4(NMNAT1):c.524C>T (p.Thr175Ile) rs369355895 0.00004
NM_152443.3(RDH12):c.187+3A>G rs568731074 0.00004
NM_152443.3(RDH12):c.284G>A (p.Arg95Gln) rs765914942 0.00004
NM_152443.3(RDH12):c.517G>A (p.Val173Met) rs376053811 0.00004
NM_152443.3(RDH12):c.755C>A (p.Ser252Tyr) rs376787473 0.00004
NM_201253.3(CRB1):c.1015G>A (p.Asp339Asn) rs1199892094 0.00004
NM_201253.3(CRB1):c.1577G>A (p.Arg526Gln) rs531283439 0.00004
NM_201253.3(CRB1):c.2035C>G (p.Gln679Glu) rs62636286 0.00004
NM_201253.3(CRB1):c.2231G>A (p.Arg744Gln) rs530046423 0.00004
NM_201253.3(CRB1):c.269G>A (p.Gly90Glu) rs368816923 0.00004
NM_201253.3(CRB1):c.2995C>T (p.Leu999Phe) rs983449864 0.00004
NM_201253.3(CRB1):c.3202A>G (p.Thr1068Ala) rs886045787 0.00004
NM_201253.3(CRB1):c.4157A>G (p.Lys1386Arg) rs776191501 0.00004
NM_201253.3(CRB1):c.4169G>A (p.Arg1390Gln) rs764581378 0.00004
NM_000180.4(GUCY2D):c.1495G>C (p.Gly499Arg) rs751263915 0.00003
NM_000180.4(GUCY2D):c.1519G>A (p.Val507Met) rs746002871 0.00003
NM_000180.4(GUCY2D):c.1721G>A (p.Arg574His) rs560270873 0.00003
NM_000180.4(GUCY2D):c.1828C>A (p.Leu610Ile) rs779224998 0.00003
NM_000180.4(GUCY2D):c.1987G>A (p.Ala663Thr) rs749314383 0.00003
NM_000180.4(GUCY2D):c.2551C>T (p.Arg851Trp) rs571236000 0.00003
NM_000180.4(GUCY2D):c.3175A>G (p.Arg1059Gly) rs878853342 0.00003
NM_000180.4(GUCY2D):c.3181G>A (p.Gly1061Ser) rs62641254 0.00003
NM_000180.4(GUCY2D):c.3272G>A (p.Arg1091Gln) rs773307918 0.00003
NM_000180.4(GUCY2D):c.479C>T (p.Thr160Ile) rs750399742 0.00003
NM_000180.4(GUCY2D):c.566C>T (p.Ala189Val) rs375259185 0.00003
NM_000180.4(GUCY2D):c.613C>T (p.Leu205Phe) rs764280512 0.00003
NM_000329.3(RPE65):c.1198A>T (p.Thr400Ser) rs1645826225 0.00003
NM_000329.3(RPE65):c.1366G>C (p.Glu456Gln) rs755805126 0.00003
NM_000329.3(RPE65):c.1387C>A (p.Pro463Thr) rs375358477 0.00003
NM_000329.3(RPE65):c.224G>A (p.Gly75Glu) rs201062742 0.00003
NM_000329.3(RPE65):c.524A>G (p.Asn175Ser) rs771863086 0.00003
NM_000329.3(RPE65):c.614A>G (p.Asn205Ser) rs61752887 0.00003
NM_000329.3(RPE65):c.842C>G (p.Ser281Cys) rs753656894 0.00003
NM_000554.6(CRX):c.460A>G (p.Thr154Ala) rs763651232 0.00003
NM_000554.6(CRX):c.464C>T (p.Thr155Met) rs753466818 0.00003
NM_000554.6(CRX):c.649G>A (p.Gly217Ser) rs146869548 0.00003
NM_001001557.4(GDF6):c.418C>G (p.His140Asp) rs370351474 0.00003
NM_001001557.4(GDF6):c.544G>C (p.Gly182Arg) rs767572263 0.00003
NM_001001557.4(GDF6):c.770C>T (p.Pro257Leu) rs886063208 0.00003
NM_001001557.4(GDF6):c.785G>A (p.Ser262Asn) rs747899927 0.00003
NM_001001557.4(GDF6):c.809G>A (p.Arg270Gln) rs781155701 0.00003
NM_001164688.2(RD3):c.160G>T (p.Val54Phe) rs752946135 0.00003
NM_001164688.2(RD3):c.527A>G (p.Asp176Gly) rs775663367 0.00003
NM_014336.5(AIPL1):c.1054G>A (p.Ala352Thr) rs751700711 0.00003
NM_014336.5(AIPL1):c.112C>T (p.Arg38Cys) rs200899521 0.00003
NM_014336.5(AIPL1):c.158G>A (p.Arg53Gln) rs756283764 0.00003
NM_014336.5(AIPL1):c.382G>A (p.Ala128Thr) rs751216669 0.00003
NM_014336.5(AIPL1):c.466-7G>A rs756948838 0.00003
NM_018418.5(SPATA7):c.1225C>T (p.Arg409Cys) rs376584178 0.00003
NM_018418.5(SPATA7):c.190+3A>G rs756285093 0.00003
NM_018418.5(SPATA7):c.553T>C (p.Tyr185His) rs777789357 0.00003
NM_018418.5(SPATA7):c.646G>A (p.Val216Ile) rs747210887 0.00003
NM_018418.5(SPATA7):c.878A>C (p.Lys293Thr) rs1013670094 0.00003
NM_018418.5(SPATA7):c.929C>T (p.Thr310Ile) rs767454994 0.00003
NM_018418.5(SPATA7):c.940A>C (p.Lys314Gln) rs751570128 0.00003
NM_020366.4(RPGRIP1):c.1012A>G (p.Lys338Glu) rs766519169 0.00003
NM_020366.4(RPGRIP1):c.1943C>A (p.Thr648Asn) rs780101671 0.00003
NM_020366.4(RPGRIP1):c.2303G>A (p.Arg768Gln) rs770870865 0.00003
NM_020366.4(RPGRIP1):c.3170A>T (p.His1057Leu) rs201521970 0.00003
NM_020366.4(RPGRIP1):c.427G>A (p.Val143Ile) rs766604917 0.00003
NM_020366.4(RPGRIP1):c.686G>T (p.Ser229Ile) rs768832924 0.00003
NM_020366.4(RPGRIP1):c.77C>T (p.Ala26Val) rs187598648 0.00003
NM_020366.4(RPGRIP1):c.787G>T (p.Ala263Ser) rs780673799 0.00003
NM_022787.4(NMNAT1):c.599C>T (p.Ser200Leu) rs762655133 0.00003
NM_152443.3(RDH12):c.194G>A (p.Arg65Gln) rs745471670 0.00003
NM_152443.3(RDH12):c.844T>G (p.Phe282Val) rs756887056 0.00003
NM_152443.3(RDH12):c.878G>C (p.Arg293Thr) rs746131696 0.00003
NM_201253.3(CRB1):c.2305C>T (p.Arg769Cys) rs746307301 0.00003
NM_201253.3(CRB1):c.263C>T (p.Thr88Ile) rs201893755 0.00003
NM_201253.3(CRB1):c.2813A>C (p.Gln938Pro) rs751018219 0.00003
NM_201253.3(CRB1):c.3625G>A (p.Val1209Met) rs201349525 0.00003
NM_201253.3(CRB1):c.3683C>A (p.Thr1228Asn) rs147924782 0.00003
NM_201253.3(CRB1):c.3856C>T (p.Arg1286Trp) rs754054234 0.00003
NM_201253.3(CRB1):c.580C>T (p.Pro194Ser) rs772447283 0.00003
NM_000180.4(GUCY2D):c.1021C>A (p.Gln341Lys) rs368799458 0.00002
NM_000180.4(GUCY2D):c.1116G>T (p.Trp372Cys) rs770255396 0.00002
NM_000180.4(GUCY2D):c.1405G>A (p.Gly469Ser) rs748301943 0.00002
NM_000180.4(GUCY2D):c.1469G>A (p.Arg490Gln) rs753488664 0.00002
NM_000180.4(GUCY2D):c.1564A>G (p.Lys522Glu) rs200189360 0.00002
NM_000180.4(GUCY2D):c.1566+3G>T rs752607737 0.00002
NM_000180.4(GUCY2D):c.1618C>T (p.Arg540Cys) rs61749754 0.00002
NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn) rs188568530 0.00002
NM_000180.4(GUCY2D):c.1720C>T (p.Arg574Cys) rs137853897 0.00002
NM_000180.4(GUCY2D):c.1758G>T (p.Glu586Asp) rs765906787 0.00002
NM_000180.4(GUCY2D):c.1887C>A (p.Asp629Glu) rs770016889 0.00002
NM_000180.4(GUCY2D):c.1901G>C (p.Arg634Thr) rs759957436 0.00002
NM_000180.4(GUCY2D):c.2056G>A (p.Gly686Ser) rs766482364 0.00002
NM_000180.4(GUCY2D):c.206C>G (p.Ser69Cys) rs1328542671 0.00002
NM_000180.4(GUCY2D):c.218C>A (p.Pro73Gln) rs750153057 0.00002
NM_000180.4(GUCY2D):c.232C>T (p.Arg78Cys) rs558294899 0.00002
NM_000180.4(GUCY2D):c.2435G>A (p.Arg812Gln) rs201388569 0.00002
NM_000180.4(GUCY2D):c.2506C>T (p.Arg836Trp) rs145420245 0.00002
NM_000180.4(GUCY2D):c.2600C>T (p.Thr867Met) rs375727197 0.00002
NM_000180.4(GUCY2D):c.2743A>G (p.Ile915Val) rs1189392055 0.00002
NM_000180.4(GUCY2D):c.2921G>A (p.Arg974His) rs776083430 0.00002
NM_000180.4(GUCY2D):c.2943G>A (p.Ser981=) rs749863195 0.00002
NM_000180.4(GUCY2D):c.452G>A (p.Gly151Asp) rs890569519 0.00002
NM_000180.4(GUCY2D):c.576C>A (p.Asp192Glu) rs528169554 0.00002
NM_000180.4(GUCY2D):c.937C>T (p.Arg313Cys) rs61749674 0.00002
NM_000329.3(RPE65):c.1339-4A>G rs746665921 0.00002
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly) rs62637004 0.00002
NM_000329.3(RPE65):c.1544G>A (p.Arg515Gln) rs559975684 0.00002
NM_000554.6(CRX):c.485T>C (p.Ile162Thr) rs745628043 0.00002
NM_000554.6(CRX):c.487T>C (p.Trp163Arg) rs779912365 0.00002
NM_000554.6(CRX):c.513G>C (p.Leu171Phe) rs773154643 0.00002
NM_000554.6(CRX):c.521C>T (p.Ala174Val) rs771028537 0.00002
NM_001001557.4(GDF6):c.253C>T (p.Pro85Ser) rs766458579 0.00002
NM_001001557.4(GDF6):c.703G>A (p.Ala235Thr) rs1262253139 0.00002
NM_001001557.4(GDF6):c.728G>T (p.Gly243Val) rs772188117 0.00002
NM_001001557.4(GDF6):c.964G>A (p.Ala322Thr) rs200317462 0.00002
NM_001164688.2(RD3):c.23G>A (p.Arg8Gln) rs368631943 0.00002
NM_001164688.2(RD3):c.283C>T (p.Pro95Ser) rs759162527 0.00002
NM_001164688.2(RD3):c.446G>T (p.Ser149Ile) rs371097322 0.00002
NM_001164688.2(RD3):c.587G>C (p.Ter196Ser) rs370045355 0.00002
NM_001164688.2(RD3):c.65C>A (p.Ala22Asp) rs371743426 0.00002
NM_014336.5(AIPL1):c.113G>A (p.Arg38His) rs759934433 0.00002
NM_014336.5(AIPL1):c.157C>T (p.Arg53Trp) rs62637008 0.00002
NM_014336.5(AIPL1):c.392C>T (p.Thr131Met) rs537256728 0.00002
NM_014336.5(AIPL1):c.642G>A (p.Lys214=) rs747890893 0.00002
NM_014336.5(AIPL1):c.938C>T (p.Ala313Val) rs139900367 0.00002
NM_018418.5(SPATA7):c.1228C>G (p.His410Asp) rs987375960 0.00002
NM_018418.5(SPATA7):c.1391G>A (p.Arg464His) rs748143898 0.00002
NM_018418.5(SPATA7):c.1408G>C (p.Ala470Pro) rs375711118 0.00002
NM_018418.5(SPATA7):c.1476C>A (p.Phe492Leu) rs750676893 0.00002
NM_018418.5(SPATA7):c.254G>A (p.Arg85Gln) rs199825301 0.00002
NM_018418.5(SPATA7):c.319A>G (p.Met107Val) rs763053429 0.00002
NM_018418.5(SPATA7):c.323G>A (p.Arg108Gln) rs370110205 0.00002
NM_018418.5(SPATA7):c.572G>A (p.Arg191Gln) rs774360285 0.00002
NM_018418.5(SPATA7):c.93T>A (p.Asn31Lys) rs779315409 0.00002
NM_018418.5(SPATA7):c.94+5G>A rs371618316 0.00002
NM_020366.4(RPGRIP1):c.1059G>C (p.Leu353Phe) rs756365691 0.00002
NM_020366.4(RPGRIP1):c.1173C>G (p.Ser391Arg) rs373962100 0.00002
NM_020366.4(RPGRIP1):c.163G>A (p.Glu55Lys) rs530008238 0.00002
NM_020366.4(RPGRIP1):c.1642G>A (p.Asp548Asn) rs1223339694 0.00002
NM_020366.4(RPGRIP1):c.2291C>T (p.Ala764Val) rs758652031 0.00002
NM_020366.4(RPGRIP1):c.2479C>T (p.Arg827Cys) rs985883884 0.00002
NM_020366.4(RPGRIP1):c.2632G>A (p.Glu878Lys) rs1019416252 0.00002
NM_020366.4(RPGRIP1):c.2932G>A (p.Gly978Ser) rs754582695 0.00002
NM_020366.4(RPGRIP1):c.3238+4T>C rs748207531 0.00002
NM_020366.4(RPGRIP1):c.3289G>A (p.Asp1097Asn) rs779356445 0.00002
NM_020366.4(RPGRIP1):c.3428A>G (p.Tyr1143Cys) rs765299022 0.00002
NM_020366.4(RPGRIP1):c.3760G>A (p.Glu1254Lys) rs370728861 0.00002
NM_020366.4(RPGRIP1):c.3779T>C (p.Ile1260Thr) rs752222755 0.00002
NM_020366.4(RPGRIP1):c.3821A>G (p.His1274Arg) rs758718790 0.00002
NM_020366.4(RPGRIP1):c.3859T>C (p.Ter1287Arg) rs1029178575 0.00002
NM_020366.4(RPGRIP1):c.683C>T (p.Ala228Val) rs756504836 0.00002
NM_020366.4(RPGRIP1):c.938G>A (p.Gly313Glu) rs755322533 0.00002
NM_022787.4(NMNAT1):c.13G>A (p.Glu5Lys) rs747825699 0.00002
NM_022787.4(NMNAT1):c.553T>C (p.Cys185Arg) rs960609793 0.00002
NM_022787.4(NMNAT1):c.578C>T (p.Ala193Val) rs1476946920 0.00002
NM_022787.4(NMNAT1):c.620G>A (p.Arg207Gln) rs1026765174 0.00002
NM_022787.4(NMNAT1):c.664T>A (p.Ser222Thr) rs763166285 0.00002
NM_022787.4(NMNAT1):c.793G>A (p.Val265Ile) rs766979956 0.00002
NM_152443.3(RDH12):c.202A>G (p.Ile68Val) rs748754343 0.00002
NM_152443.3(RDH12):c.241A>T (p.Ser81Cys) rs760092398 0.00002
NM_152443.3(RDH12):c.410C>G (p.Ala137Gly) rs779597637 0.00002
NM_152443.3(RDH12):c.530C>T (p.Ala177Val) rs373032226 0.00002
NM_152443.3(RDH12):c.542G>A (p.Gly181Asp) rs374403088 0.00002
NM_152443.3(RDH12):c.634C>T (p.Arg212Cys) rs146653515 0.00002
NM_201253.3(CRB1):c.1096A>C (p.Ile366Leu) rs763122264 0.00002
NM_201253.3(CRB1):c.1171+6G>A rs770160426 0.00002
NM_201253.3(CRB1):c.1465G>A (p.Glu489Lys) rs1389085632 0.00002
NM_201253.3(CRB1):c.1520T>C (p.Val507Ala) rs917528638 0.00002
NM_201253.3(CRB1):c.2051G>A (p.Arg684Lys) rs371557082 0.00002
NM_201253.3(CRB1):c.208A>G (p.Met70Val) rs771462053 0.00002
NM_201253.3(CRB1):c.2274C>G (p.Ser758Arg) rs1474289008 0.00002
NM_201253.3(CRB1):c.2752A>T (p.Ser918Cys) rs776426313 0.00002
NM_201253.3(CRB1):c.2825T>C (p.Val942Ala) rs531305918 0.00002
NM_201253.3(CRB1):c.2875G>A (p.Gly959Ser) rs557111131 0.00002
NM_201253.3(CRB1):c.3284G>A (p.Gly1095Glu) rs751213257 0.00002
NM_201253.3(CRB1):c.3850A>G (p.Met1284Val) rs766592082 0.00002
NM_201253.3(CRB1):c.3881G>A (p.Cys1294Tyr) rs754575460 0.00002
NM_201253.3(CRB1):c.404T>A (p.Ile135Asn) rs1316048135 0.00002
NM_201253.3(CRB1):c.506G>A (p.Gly169Asp) rs150314336 0.00002
NM_000180.4(GUCY2D):c.1037T>A (p.Leu346His) rs1372180006 0.00001
NM_000180.4(GUCY2D):c.1099G>A (p.Ala367Thr) rs754954638 0.00001
NM_000180.4(GUCY2D):c.1147C>T (p.Arg383Trp) rs545271894 0.00001
NM_000180.4(GUCY2D):c.1148G>A (p.Arg383Gln) rs373827556 0.00001
NM_000180.4(GUCY2D):c.1154C>T (p.Ala385Val) rs1301307214 0.00001
NM_000180.4(GUCY2D):c.1225G>A (p.Ala409Thr) rs144565168 0.00001
NM_000180.4(GUCY2D):c.1255A>C (p.Met419Leu) rs1388468307 0.00001
NM_000180.4(GUCY2D):c.1257G>A (p.Met419Ile) rs202111469 0.00001
NM_000180.4(GUCY2D):c.1339C>T (p.Pro447Ser) rs1029006549 0.00001
NM_000180.4(GUCY2D):c.1403T>C (p.Leu468Pro) rs1406502907 0.00001
NM_000180.4(GUCY2D):c.1415T>C (p.Leu472Pro) rs1478819668 0.00001
NM_000180.4(GUCY2D):c.1433T>C (p.Leu478Pro) rs766944930 0.00001
NM_000180.4(GUCY2D):c.1449G>A (p.Leu483=) rs141346556 0.00001
NM_000180.4(GUCY2D):c.1547A>G (p.His516Arg) rs1345987699 0.00001
NM_000180.4(GUCY2D):c.1552G>A (p.Gly518Ser) rs537729498 0.00001
NM_000180.4(GUCY2D):c.1555A>C (p.Thr519Pro) rs1198818689 0.00001
NM_000180.4(GUCY2D):c.1562G>A (p.Arg521Gln) rs751520851 0.00001
NM_000180.4(GUCY2D):c.1566+4G>A rs1191933070 0.00001
NM_000180.4(GUCY2D):c.1573C>A (p.Gln525Lys) rs1168076308 0.00001
NM_000180.4(GUCY2D):c.1608G>A (p.Met536Ile) rs759173115 0.00001
NM_000180.4(GUCY2D):c.1645A>G (p.Ser549Gly) rs1243599161 0.00001
NM_000180.4(GUCY2D):c.16C>T (p.Arg6Cys) rs1975657387 0.00001
NM_000180.4(GUCY2D):c.1707G>T (p.Gln569His) rs568220391 0.00001
NM_000180.4(GUCY2D):c.1717A>G (p.Ile573Val) rs61749756 0.00001
NM_000180.4(GUCY2D):c.1763G>A (p.Arg588Gln) rs1380583409 0.00001
NM_000180.4(GUCY2D):c.1852G>A (p.Val618Ile) rs767258249 0.00001
NM_000180.4(GUCY2D):c.1870C>T (p.Arg624Trp) rs757230483 0.00001
NM_000180.4(GUCY2D):c.1871G>A (p.Arg624Gln) rs746020263 0.00001
NM_000180.4(GUCY2D):c.1958G>A (p.Gly653Glu) rs139168077 0.00001
NM_000180.4(GUCY2D):c.1996C>T (p.Arg666Trp) rs757387072 0.00001
NM_000180.4(GUCY2D):c.2062G>A (p.Gly688Arg) rs144291605 0.00001
NM_000180.4(GUCY2D):c.2084A>G (p.Lys695Arg) rs1237783733 0.00001
NM_000180.4(GUCY2D):c.2132C>T (p.Pro711Leu) rs765463082 0.00001
NM_000180.4(GUCY2D):c.2146G>A (p.Asp716Asn) rs755464893 0.00001
NM_000180.4(GUCY2D):c.2156T>C (p.Leu719Pro) rs756464199 0.00001
NM_000180.4(GUCY2D):c.2182G>A (p.Asp728Asn) rs766646217 0.00001
NM_000180.4(GUCY2D):c.2262G>A (p.Glu754=) rs1975893237 0.00001
NM_000180.4(GUCY2D):c.2282G>A (p.Arg761Gln) rs764439180 0.00001
NM_000180.4(GUCY2D):c.2325G>T (p.Gln775His) rs368384232 0.00001
NM_000180.4(GUCY2D):c.2359T>G (p.Cys787Gly) rs368958527 0.00001
NM_000180.4(GUCY2D):c.2387C>T (p.Pro796Leu) rs1304876088 0.00001
NM_000180.4(GUCY2D):c.2412+4A>C rs951825929 0.00001
NM_000180.4(GUCY2D):c.2432G>A (p.Gly811Asp) rs750247123 0.00001
NM_000180.4(GUCY2D):c.2439G>C (p.Lys813Asn) rs1477300555 0.00001
NM_000180.4(GUCY2D):c.2467A>T (p.Met823Leu) rs1264291406 0.00001
NM_000180.4(GUCY2D):c.2507G>A (p.Arg836Gln) rs760126408 0.00001
NM_000180.4(GUCY2D):c.2509G>A (p.Glu837Lys) rs377594823 0.00001
NM_000180.4(GUCY2D):c.2516C>T (p.Thr839Met) rs61750174 0.00001
NM_000180.4(GUCY2D):c.2576C>T (p.Pro859Leu) rs374515716 0.00001
NM_000180.4(GUCY2D):c.2578T>C (p.Ser860Pro) rs1214999566 0.00001
NM_000180.4(GUCY2D):c.2620G>A (p.Glu874Lys) rs1001538483 0.00001
NM_000180.4(GUCY2D):c.262C>A (p.Pro88Thr) rs1300514080 0.00001
NM_000180.4(GUCY2D):c.2683A>G (p.Met895Val) rs1180472258 0.00001
NM_000180.4(GUCY2D):c.277G>A (p.Gly93Ser) rs749432012 0.00001
NM_000180.4(GUCY2D):c.2795T>G (p.Met932Arg) rs766418901 0.00001
NM_000180.4(GUCY2D):c.2804C>T (p.Ser935Leu) rs1236572248 0.00001
NM_000180.4(GUCY2D):c.2861T>C (p.Leu954Pro) rs61750182 0.00001
NM_000180.4(GUCY2D):c.2875G>A (p.Ala959Thr) rs768417052 0.00001
NM_000180.4(GUCY2D):c.2878G>A (p.Val960Met) rs781010216 0.00001
NM_000180.4(GUCY2D):c.295G>A (p.Ala99Thr) rs1304984076 0.00001
NM_000180.4(GUCY2D):c.296C>T (p.Ala99Val) rs1567957056 0.00001
NM_000180.4(GUCY2D):c.3065T>G (p.Leu1022Trp) rs866511152 0.00001
NM_000180.4(GUCY2D):c.3138+6G>T rs937146348 0.00001
NM_000180.4(GUCY2D):c.3179G>A (p.Arg1060His) rs563091520 0.00001
NM_000180.4(GUCY2D):c.3205C>T (p.Pro1069Ser) rs1187326101 0.00001
NM_000180.4(GUCY2D):c.3229A>G (p.Ser1077Gly) rs1249600456 0.00001
NM_000180.4(GUCY2D):c.3245G>C (p.Ser1082Thr) rs750743574 0.00001
NM_000180.4(GUCY2D):c.3283G>A (p.Glu1095Lys) rs1024155105 0.00001
NM_000180.4(GUCY2D):c.358C>T (p.Arg120Cys) rs1975671628 0.00001
NM_000180.4(GUCY2D):c.380C>T (p.Pro127Leu) rs878853343 0.00001
NM_000180.4(GUCY2D):c.623G>A (p.Arg208Gln) rs765369504 0.00001
NM_000180.4(GUCY2D):c.652A>G (p.Met218Val) rs780953815 0.00001
NM_000180.4(GUCY2D):c.680G>A (p.Arg227Gln) rs770873775 0.00001
NM_000180.4(GUCY2D):c.696G>T (p.Lys232Asn) rs181800610 0.00001
NM_000180.4(GUCY2D):c.710C>A (p.Pro237His) rs765439946 0.00001
NM_000180.4(GUCY2D):c.793G>A (p.Glu265Lys) rs1346762413 0.00001
NM_000180.4(GUCY2D):c.808G>A (p.Asp270Asn) rs763099634 0.00001
NM_000180.4(GUCY2D):c.866C>T (p.Pro289Leu) rs1350341897 0.00001
NM_000329.3(RPE65):c.1034A>G (p.Asn345Ser) rs769440649 0.00001
NM_000329.3(RPE65):c.1189A>G (p.Ser397Gly) rs749942889 0.00001
NM_000329.3(RPE65):c.1220T>C (p.Val407Ala) rs62636297 0.00001
NM_000329.3(RPE65):c.1235C>T (p.Pro412Leu) rs199613555 0.00001
NM_000329.3(RPE65):c.124C>T (p.Leu42Phe) rs750724065 0.00001
NM_000329.3(RPE65):c.1334A>G (p.Asp445Gly) rs1645824155 0.00001
NM_000329.3(RPE65):c.1486G>A (p.Gly496Arg) rs1468393625 0.00001
NM_000329.3(RPE65):c.1519G>T (p.Ala507Ser) rs767931252 0.00001
NM_000329.3(RPE65):c.1533T>G (p.Ser511Arg) rs190761343 0.00001
NM_000329.3(RPE65):c.1597T>A (p.Ser533Thr) rs577335767 0.00001
NM_000329.3(RPE65):c.302C>T (p.Thr101Ile) rs1444234037 0.00001
NM_000329.3(RPE65):c.314C>T (p.Thr105Ile) rs1260914084 0.00001
NM_000329.3(RPE65):c.417G>A (p.Val139=) rs536073181 0.00001
NM_000329.3(RPE65):c.494A>T (p.Gln165Leu) rs745338004 0.00001
NM_000329.3(RPE65):c.547A>G (p.Ile183Val) rs1010958875 0.00001
NM_000329.3(RPE65):c.563C>T (p.Thr188Ile) rs1196428445 0.00001
NM_000329.3(RPE65):c.701G>A (p.Arg234Gln) rs577193739 0.00001
NM_000329.3(RPE65):c.743A>G (p.Asn248Ser) rs758264644 0.00001
NM_000329.3(RPE65):c.744C>A (p.Asn248Lys) rs1343005273 0.00001
NM_000329.3(RPE65):c.7A>G (p.Ile3Val) rs777461552 0.00001
NM_000329.3(RPE65):c.874G>A (p.Ala292Thr) rs377762154 0.00001
NM_000329.3(RPE65):c.909A>C (p.Lys303Asn) rs756160706 0.00001
NM_000329.3(RPE65):c.920C>T (p.Ser307Phe) rs1261473838 0.00001
NM_000329.3(RPE65):c.953A>G (p.Tyr318Cys) rs761284021 0.00001
NM_000329.3(RPE65):c.975T>G (p.Ile325Met) rs761227832 0.00001
NM_000554.6(CRX):c.11A>G (p.Tyr4Cys) rs1211313175 0.00001
NM_000554.6(CRX):c.140C>T (p.Thr47Ile) rs1203670123 0.00001
NM_000554.6(CRX):c.142C>T (p.Arg48Trp) rs761797993 0.00001
NM_000554.6(CRX):c.205C>T (p.Arg69Cys) rs771551785 0.00001
NM_000554.6(CRX):c.20C>T (p.Pro7Leu) rs558522333 0.00001
NM_000554.6(CRX):c.225G>T (p.Lys75Asn) rs1568624864 0.00001
NM_000554.6(CRX):c.253-7C>G rs754128724 0.00001
NM_000554.6(CRX):c.269G>A (p.Arg90Gln) rs1209634994 0.00001
NM_000554.6(CRX):c.343C>T (p.Arg115Trp) rs1056691132 0.00001
NM_000554.6(CRX):c.412A>G (p.Ile138Val) rs373934471 0.00001
NM_000554.6(CRX):c.433C>T (p.Pro145Ser) rs149300196 0.00001
NM_000554.6(CRX):c.439C>T (p.Pro147Ser) rs1173779531 0.00001
NM_000554.6(CRX):c.43G>A (p.Ala15Thr) rs559181643 0.00001
NM_000554.6(CRX):c.43G>C (p.Ala15Pro) rs559181643 0.00001
NM_000554.6(CRX):c.526C>G (p.Arg176Gly) rs543243551 0.00001
NM_000554.6(CRX):c.560C>T (p.Thr187Ile) rs758125850 0.00001
NM_000554.6(CRX):c.632C>T (p.Pro211Leu) rs559042370 0.00001
NM_000554.6(CRX):c.673A>C (p.Met225Leu) rs765976845 0.00001
NM_000554.6(CRX):c.688G>C (p.Gly230Arg) rs1461832129 0.00001
NM_000554.6(CRX):c.740C>T (p.Ala247Val) rs1196719242 0.00001
NM_000554.6(CRX):c.806_809dup (p.Lys270fs) rs1968173706 0.00001
NM_000554.6(CRX):c.8C>T (p.Ala3Val) rs762715327 0.00001
NM_001001557.4(GDF6):c.1106A>G (p.Asp369Gly) rs774573217 0.00001
NM_001001557.4(GDF6):c.1237G>A (p.Gly413Ser) rs984197099 0.00001
NM_001001557.4(GDF6):c.1310A>G (p.Asn437Ser) rs376427985 0.00001
NM_001001557.4(GDF6):c.223C>T (p.Pro75Ser) rs1040541530 0.00001
NM_001001557.4(GDF6):c.224C>G (p.Pro75Arg) rs1378920942 0.00001
NM_001001557.4(GDF6):c.305A>G (p.Tyr102Cys) rs1204502085 0.00001
NM_001001557.4(GDF6):c.401G>A (p.Gly134Glu) rs966679733 0.00001
NM_001001557.4(GDF6):c.416C>T (p.Ser139Leu) rs1812463539 0.00001
NM_001001557.4(GDF6):c.554A>C (p.His185Pro) rs763275206 0.00001
NM_001001557.4(GDF6):c.647A>G (p.Asp216Gly) rs1812457627 0.00001
NM_001001557.4(GDF6):c.743G>T (p.Arg248Leu) rs765707228 0.00001
NM_001001557.4(GDF6):c.764C>T (p.Pro255Leu) rs762654952 0.00001
NM_001001557.4(GDF6):c.82A>C (p.Ile28Leu) rs760516509 0.00001
NM_001001557.4(GDF6):c.896C>T (p.Ser299Leu) rs761634996 0.00001
NM_001001557.4(GDF6):c.954C>T (p.Gly318=) rs1277401260 0.00001
NM_001164688.2(RD3):c.169G>A (p.Gly57Ser) rs750239049 0.00001
NM_001164688.2(RD3):c.203G>A (p.Arg68Gln) rs777789102 0.00001
NM_001164688.2(RD3):c.227T>C (p.Ile76Thr) rs752858252 0.00001
NM_001164688.2(RD3):c.22C>T (p.Arg8Trp) rs142307843 0.00001
NM_001164688.2(RD3):c.297G>A (p.Arg99=) rs575487939 0.00001
NM_001164688.2(RD3):c.2T>C (p.Met1Thr) rs1046628693 0.00001
NM_001164688.2(RD3):c.368A>T (p.Gln123Leu) rs764736043 0.00001
NM_001164688.2(RD3):c.493G>A (p.Asp165Asn) rs746738197 0.00001
NM_001164688.2(RD3):c.509C>T (p.Ser170Phe) rs776821754 0.00001
NM_001164688.2(RD3):c.511G>A (p.Glu171Lys) rs373687238 0.00001
NM_001164688.2(RD3):c.560C>A (p.Pro187His) rs1268167803 0.00001
NM_001164688.2(RD3):c.89T>A (p.Met30Lys) rs757374757 0.00001
NM_001164688.2(RD3):c.94G>C (p.Glu32Gln) rs368003568 0.00001
NM_014336.5(AIPL1):c.1028C>T (p.Pro343Leu) rs778794784 0.00001
NM_014336.5(AIPL1):c.1052C>T (p.Pro351Leu) rs972017329 0.00001
NM_014336.5(AIPL1):c.1058A>G (p.Glu353Gly) rs1452332999 0.00001
NM_014336.5(AIPL1):c.1061C>T (p.Pro354Leu) rs766639726 0.00001
NM_014336.5(AIPL1):c.1123C>T (p.Pro375Ser) rs1567634365 0.00001
NM_014336.5(AIPL1):c.131A>T (p.Glu44Val) rs150831974 0.00001
NM_014336.5(AIPL1):c.203A>G (p.Lys68Arg) rs1912903029 0.00001
NM_014336.5(AIPL1):c.208G>A (p.Glu70Lys) rs746661125 0.00001
NM_014336.5(AIPL1):c.221T>C (p.Ile74Thr) rs201336952 0.00001
NM_014336.5(AIPL1):c.227T>C (p.Leu76Pro) rs1375384582 0.00001
NM_014336.5(AIPL1):c.239G>A (p.Arg80Gln) rs781282752 0.00001
NM_014336.5(AIPL1):c.298C>G (p.Leu100Val) rs1223856637 0.00001
NM_014336.5(AIPL1):c.352G>A (p.Val118Met) rs1194123629 0.00001
NM_014336.5(AIPL1):c.358A>G (p.Thr120Ala) rs200049623 0.00001
NM_014336.5(AIPL1):c.359C>T (p.Thr120Met) rs144579083 0.00001
NM_014336.5(AIPL1):c.454G>A (p.Glu152Lys) rs150886208 0.00001
NM_014336.5(AIPL1):c.46A>G (p.Ile16Val) rs767405804 0.00001
NM_014336.5(AIPL1):c.476C>T (p.Pro159Leu) rs141575827 0.00001
NM_014336.5(AIPL1):c.515A>G (p.His172Arg) rs1285577966 0.00001
NM_014336.5(AIPL1):c.525G>A (p.Met175Ile) rs933903266 0.00001
NM_014336.5(AIPL1):c.546C>A (p.His182Gln) rs745326012 0.00001
NM_014336.5(AIPL1):c.559C>T (p.Arg187Trp) rs372483880 0.00001
NM_014336.5(AIPL1):c.570G>T (p.Lys190Asn) rs199497823 0.00001
NM_014336.5(AIPL1):c.577C>A (p.Arg193Ser) rs765435117 0.00001
NM_014336.5(AIPL1):c.578G>A (p.Arg193His) rs761923853 0.00001
NM_014336.5(AIPL1):c.615C>G (p.Ile205Met) rs374997186 0.00001
NM_014336.5(AIPL1):c.631C>G (p.Leu211Val) rs748859830 0.00001
NM_014336.5(AIPL1):c.66C>T (p.Gly22=) rs1454085955 0.00001
NM_014336.5(AIPL1):c.772C>G (p.Arg258Gly) rs540875983 0.00001
NM_014336.5(AIPL1):c.773G>A (p.Arg258Gln) rs751881283 0.00001
NM_014336.5(AIPL1):c.784+6C>T rs761471244 0.00001
NM_014336.5(AIPL1):c.828G>C (p.Glu276Asp) rs772357501 0.00001
NM_014336.5(AIPL1):c.950A>G (p.Glu317Gly) rs754534495 0.00001
NM_018418.5(SPATA7):c.1003G>A (p.Asp335Asn) rs1383336971 0.00001
NM_018418.5(SPATA7):c.1035G>A (p.Met345Ile) rs764902056 0.00001
NM_018418.5(SPATA7):c.103A>G (p.Thr35Ala) rs368604833 0.00001
NM_018418.5(SPATA7):c.1049T>C (p.Leu350Pro) rs758022550 0.00001
NM_018418.5(SPATA7):c.1087G>A (p.Glu363Lys) rs1375333872 0.00001
NM_018418.5(SPATA7):c.1141C>T (p.Leu381Phe) rs770831381 0.00001
NM_018418.5(SPATA7):c.1180G>A (p.Glu394Lys) rs199649645 0.00001
NM_018418.5(SPATA7):c.1184G>A (p.Arg395Gln) rs202077954 0.00001
NM_018418.5(SPATA7):c.1280C>T (p.Ser427Leu) rs143653250 0.00001
NM_018418.5(SPATA7):c.13C>T (p.Arg5Trp) rs1354221096 0.00001
NM_018418.5(SPATA7):c.1427C>T (p.Ser476Leu) rs545998461 0.00001
NM_018418.5(SPATA7):c.1447G>A (p.Glu483Lys) rs1322871614 0.00001
NM_018418.5(SPATA7):c.1477A>T (p.Met493Leu) rs1229447697 0.00001
NM_018418.5(SPATA7):c.1513A>G (p.Ile505Val) rs745567483 0.00001
NM_018418.5(SPATA7):c.1687C>T (p.Pro563Ser) rs748651087 0.00001
NM_018418.5(SPATA7):c.1691C>G (p.Ser564Cys) rs1379615692 0.00001
NM_018418.5(SPATA7):c.1693C>A (p.Gln565Lys) rs149705437 0.00001
NM_018418.5(SPATA7):c.1733A>G (p.His578Arg) rs1487429161 0.00001
NM_018418.5(SPATA7):c.194C>T (p.Ala65Val) rs774821432 0.00001
NM_018418.5(SPATA7):c.196G>A (p.Val66Ile) rs958554500 0.00001
NM_018418.5(SPATA7):c.19G>T (p.Val7Phe) rs371609982 0.00001
NM_018418.5(SPATA7):c.212C>T (p.Pro71Leu) rs373094088 0.00001
NM_018418.5(SPATA7):c.316G>A (p.Ala106Thr) rs775594191 0.00001
NM_018418.5(SPATA7):c.382G>A (p.Glu128Lys) rs768713530 0.00001
NM_018418.5(SPATA7):c.411A>C (p.Lys137Asn) rs772148541 0.00001
NM_018418.5(SPATA7):c.472C>A (p.His158Asn) rs1296975092 0.00001
NM_018418.5(SPATA7):c.620T>A (p.Phe207Tyr) rs1177680731 0.00001
NM_018418.5(SPATA7):c.634C>T (p.Arg212Trp) rs753250204 0.00001
NM_018418.5(SPATA7):c.781C>T (p.Pro261Ser) rs771350966 0.00001
NM_018418.5(SPATA7):c.793A>G (p.Lys265Glu) rs553234090 0.00001
NM_018418.5(SPATA7):c.845G>A (p.Ser282Asn) rs752125073 0.00001
NM_018418.5(SPATA7):c.890A>T (p.Asp297Val) rs769211713 0.00001
NM_018418.5(SPATA7):c.913G>A (p.Ala305Thr) rs1281376963 0.00001
NM_018418.5(SPATA7):c.999G>C (p.Lys333Asn) rs771016799 0.00001
NM_020366.4(RPGRIP1):c.1018G>T (p.Ala340Ser) rs1881555303 0.00001
NM_020366.4(RPGRIP1):c.1078-4T>G rs548990299 0.00001
NM_020366.4(RPGRIP1):c.1135G>A (p.Asp379Asn) rs758038121 0.00001
NM_020366.4(RPGRIP1):c.1238T>G (p.Leu413Arg) rs1486475994 0.00001
NM_020366.4(RPGRIP1):c.128G>A (p.Arg43Gln) rs762187880 0.00001
NM_020366.4(RPGRIP1):c.1326G>T (p.Lys442Asn) rs375450848 0.00001
NM_020366.4(RPGRIP1):c.1340A>G (p.Asn447Ser) rs1342579243 0.00001
NM_020366.4(RPGRIP1):c.1439C>G (p.Ala480Gly) rs1882241075 0.00001
NM_020366.4(RPGRIP1):c.1446G>C (p.Leu482Phe) rs200541068 0.00001
NM_020366.4(RPGRIP1):c.1475A>G (p.Glu492Gly) rs1161752701 0.00001
NM_020366.4(RPGRIP1):c.1519G>A (p.Glu507Lys) rs1882436936 0.00001
NM_020366.4(RPGRIP1):c.1544C>A (p.Thr515Asn) rs762856248 0.00001
NM_020366.4(RPGRIP1):c.1634C>T (p.Thr545Ile) rs778389059 0.00001
NM_020366.4(RPGRIP1):c.1688G>A (p.Arg563Gln) rs145055116 0.00001
NM_020366.4(RPGRIP1):c.1726G>A (p.Glu576Lys) rs1448903303 0.00001
NM_020366.4(RPGRIP1):c.1856C>T (p.Ser619Phe) rs779121574 0.00001
NM_020366.4(RPGRIP1):c.1898A>G (p.His633Arg) rs774019346 0.00001
NM_020366.4(RPGRIP1):c.1921G>A (p.Ala641Thr) rs753575515 0.00001
NM_020366.4(RPGRIP1):c.1949C>T (p.Pro650Leu) rs769167245 0.00001
NM_020366.4(RPGRIP1):c.1976A>G (p.Tyr659Cys) rs1278572461 0.00001
NM_020366.4(RPGRIP1):c.2012G>A (p.Gly671Glu) rs1348186141 0.00001
NM_020366.4(RPGRIP1):c.2099G>A (p.Arg700Gln) rs768190736 0.00001
NM_020366.4(RPGRIP1):c.2212A>G (p.Ile738Val) rs774600464 0.00001
NM_020366.4(RPGRIP1):c.2215+6T>C rs767555070 0.00001
NM_020366.4(RPGRIP1):c.2285T>C (p.Leu762Pro) rs199593721 0.00001
NM_020366.4(RPGRIP1):c.2294G>A (p.Cys765Tyr) rs1413996964 0.00001
NM_020366.4(RPGRIP1):c.2335G>C (p.Val779Leu) rs1050643789 0.00001
NM_020366.4(RPGRIP1):c.2336T>C (p.Val779Ala) rs1195674447 0.00001
NM_020366.4(RPGRIP1):c.2347C>T (p.Arg783Trp) rs765878033 0.00001
NM_020366.4(RPGRIP1):c.2361A>T (p.Glu787Asp) rs1427873310 0.00001
NM_020366.4(RPGRIP1):c.2389C>T (p.Pro797Ser) rs750432423 0.00001
NM_020366.4(RPGRIP1):c.2441G>T (p.Arg814Leu) rs372647080 0.00001
NM_020366.4(RPGRIP1):c.2527A>G (p.Asn843Asp) rs762420632 0.00001
NM_020366.4(RPGRIP1):c.2557T>G (p.Phe853Val) rs755901634 0.00001
NM_020366.4(RPGRIP1):c.2614A>G (p.Ile872Val) rs747355604 0.00001
NM_020366.4(RPGRIP1):c.2620G>A (p.Val874Ile) rs774012865 0.00001
NM_020366.4(RPGRIP1):c.2693A>G (p.Lys898Arg) rs1330207465 0.00001
NM_020366.4(RPGRIP1):c.2864C>T (p.Ser955Phe) rs1437116017 0.00001
NM_020366.4(RPGRIP1):c.2875A>G (p.Lys959Glu) rs758124463 0.00001
NM_020366.4(RPGRIP1):c.2895+3A>G rs769634650 0.00001
NM_020366.4(RPGRIP1):c.2902A>G (p.Met968Val) rs552951112 0.00001
NM_020366.4(RPGRIP1):c.2916G>T (p.Glu972Asp) rs1233085262 0.00001
NM_020366.4(RPGRIP1):c.2964T>A (p.His988Gln) rs1883351019 0.00001
NM_020366.4(RPGRIP1):c.2987A>G (p.Glu996Gly) rs1254110768 0.00001
NM_020366.4(RPGRIP1):c.3057G>A (p.Met1019Ile) rs374298935 0.00001
NM_020366.4(RPGRIP1):c.3124T>A (p.Phe1042Ile) rs988867957 0.00001
NM_020366.4(RPGRIP1):c.3137A>T (p.Asn1046Ile) rs1883600054 0.00001
NM_020366.4(RPGRIP1):c.3223C>G (p.Leu1075Val) rs550094754 0.00001
NM_020366.4(RPGRIP1):c.3227A>G (p.His1076Arg) rs1396404319 0.00001
NM_020366.4(RPGRIP1):c.3259G>A (p.Gly1087Ser) rs756204198 0.00001
NM_020366.4(RPGRIP1):c.3364A>G (p.Ile1122Val) rs1363679912 0.00001
NM_020366.4(RPGRIP1):c.344T>G (p.Met115Arg) rs752159774 0.00001
NM_020366.4(RPGRIP1):c.3450C>G (p.Asp1150Glu) rs527354795 0.00001
NM_020366.4(RPGRIP1):c.3503G>T (p.Gly1168Val) rs763866704 0.00001
NM_020366.4(RPGRIP1):c.356C>T (p.Pro119Leu) rs770129842 0.00001
NM_020366.4(RPGRIP1):c.3587T>A (p.Met1196Lys) rs769554584 0.00001
NM_020366.4(RPGRIP1):c.3651T>G (p.Asp1217Glu) rs1316957086 0.00001
NM_020366.4(RPGRIP1):c.3766C>G (p.Leu1256Val) rs1405508889 0.00001
NM_020366.4(RPGRIP1):c.3773C>T (p.Thr1258Ile) rs759191514 0.00001
NM_020366.4(RPGRIP1):c.3791A>G (p.Lys1264Arg) rs753788745 0.00001
NM_020366.4(RPGRIP1):c.3793_3794insGAAA (p.Val1265fs) rs1468976582 0.00001
NM_020366.4(RPGRIP1):c.3814G>A (p.Val1272Ile) rs778860397 0.00001
NM_020366.4(RPGRIP1):c.386A>T (p.His129Leu) rs547876047 0.00001
NM_020366.4(RPGRIP1):c.416C>T (p.Ala139Val) rs1169371081 0.00001
NM_020366.4(RPGRIP1):c.493C>G (p.Pro165Ala) rs199840691 0.00001
NM_020366.4(RPGRIP1):c.521C>T (p.Pro174Leu) rs780733881 0.00001
NM_020366.4(RPGRIP1):c.564A>G (p.Glu188=) rs574462207 0.00001
NM_020366.4(RPGRIP1):c.61C>T (p.Pro21Ser) rs1032222606 0.00001
NM_020366.4(RPGRIP1):c.667A>G (p.Ser223Gly) rs1285531904 0.00001
NM_020366.4(RPGRIP1):c.680T>C (p.Met227Thr) rs371994477 0.00001
NM_020366.4(RPGRIP1):c.728A>C (p.Lys243Thr) rs766603726 0.00001
NM_020366.4(RPGRIP1):c.800G>A (p.Arg267Gln) rs758239674 0.00001
NM_020366.4(RPGRIP1):c.80C>T (p.Ser27Leu) rs569126479 0.00001
NM_020366.4(RPGRIP1):c.860A>G (p.Asn287Ser) rs937927408 0.00001
NM_020366.4(RPGRIP1):c.926A>G (p.Gln309Arg) rs757291015 0.00001
NM_020366.4(RPGRIP1):c.953C>T (p.Ala318Val) rs1325466987 0.00001
NM_020366.4(RPGRIP1):c.957T>G (p.His319Gln) rs778477037 0.00001
NM_020366.4(RPGRIP1):c.965T>C (p.Leu322Pro) rs1214509629 0.00001
NM_022787.4(NMNAT1):c.106A>G (p.Asn36Asp) rs1408398828 0.00001
NM_022787.4(NMNAT1):c.154G>C (p.Gly52Arg) rs1195640784 0.00001
NM_022787.4(NMNAT1):c.155G>T (p.Gly52Val) rs768528387 0.00001
NM_022787.4(NMNAT1):c.18G>T (p.Lys6Asn) rs199561165 0.00001
NM_022787.4(NMNAT1):c.199G>T (p.Val67Phe) rs756903689 0.00001
NM_022787.4(NMNAT1):c.370G>A (p.Gly124Arg) rs774813024 0.00001
NM_022787.4(NMNAT1):c.410A>T (p.Gln137Leu) rs200333003 0.00001
NM_022787.4(NMNAT1):c.473A>T (p.Asp158Val) rs1471406235 0.00001
NM_022787.4(NMNAT1):c.480G>C (p.Leu160Phe) rs1049428996 0.00001
NM_022787.4(NMNAT1):c.512G>A (p.Ser171Asn) rs769493618 0.00001
NM_022787.4(NMNAT1):c.516A>T (p.Glu172Asp) rs1163983606 0.00001
NM_022787.4(NMNAT1):c.520A>G (p.Ile174Val) rs962546443 0.00001
NM_022787.4(NMNAT1):c.542A>G (p.Tyr181Cys) rs748913297 0.00001
NM_022787.4(NMNAT1):c.550A>G (p.Ile184Val) rs1641968442 0.00001
NM_022787.4(NMNAT1):c.556G>A (p.Val186Ile) rs1557475933 0.00001
NM_022787.4(NMNAT1):c.680G>A (p.Arg227Gln) rs751644763 0.00001
NM_022787.4(NMNAT1):c.829G>A (p.Ala277Thr) rs1001997442 0.00001
NM_022787.4(NMNAT1):c.833A>C (p.Lys278Thr) rs1033480343 0.00001
NM_022787.4(NMNAT1):c.837A>G (p.Thr279=) rs781081892 0.00001
NM_152443.3(RDH12):c.108G>C (p.Gln36His) rs950626394 0.00001
NM_152443.3(RDH12):c.199T>C (p.Tyr67His) rs1345040413 0.00001
NM_152443.3(RDH12):c.236C>T (p.Ala79Val) rs763414313 0.00001
NM_152443.3(RDH12):c.269C>T (p.Ser90Phe) rs763945956 0.00001
NM_152443.3(RDH12):c.281T>C (p.Val94Ala) rs764990788 0.00001
NM_152443.3(RDH12):c.283C>T (p.Arg95Trp) rs552516182 0.00001
NM_152443.3(RDH12):c.302A>G (p.Asp101Gly) rs374675592 0.00001
NM_152443.3(RDH12):c.491T>C (p.Val164Ala) rs760376777 0.00001
NM_152443.3(RDH12):c.560A>G (p.Asp187Gly) rs1262243990 0.00001
NM_152443.3(RDH12):c.578G>A (p.Arg193His) rs567973980 0.00001
NM_152443.3(RDH12):c.671C>T (p.Thr224Ile) rs200302290 0.00001
NM_152443.3(RDH12):c.709C>G (p.Leu237Val) rs1377743038 0.00001
NM_152443.3(RDH12):c.745C>T (p.Arg249Trp) rs1452061026 0.00001
NM_152443.3(RDH12):c.748C>T (p.Leu250Phe) rs777424197 0.00001
NM_152443.3(RDH12):c.749T>C (p.Leu250Pro) rs1318963464 0.00001
NM_152443.3(RDH12):c.794G>C (p.Ser265Thr) rs766633594 0.00001
NM_152443.3(RDH12):c.92G>A (p.Cys31Tyr) rs746979841 0.00001
NM_152443.3(RDH12):c.940C>T (p.Arg314Trp) rs773048895 0.00001
NM_201253.3(CRB1):c.1026A>C (p.Glu342Asp) rs144798709 0.00001
NM_201253.3(CRB1):c.1040C>T (p.Pro347Leu) rs765500601 0.00001
NM_201253.3(CRB1):c.1086A>T (p.Gln362His) rs1022182632 0.00001
NM_201253.3(CRB1):c.1152C>G (p.Ile384Met) rs781656059 0.00001
NM_201253.3(CRB1):c.1172-3C>G rs937310739 0.00001
NM_201253.3(CRB1):c.127T>C (p.Ser43Pro) rs1254919944 0.00001
NM_201253.3(CRB1):c.1463T>C (p.Phe488Ser) rs777377174 0.00001
NM_201253.3(CRB1):c.14A>G (p.Asn5Ser) rs139427846 0.00001
NM_201253.3(CRB1):c.1507A>G (p.Thr503Ala) rs375590765 0.00001
NM_201253.3(CRB1):c.1636A>G (p.Ile546Val) rs745464770 0.00001
NM_201253.3(CRB1):c.1660G>T (p.Val554Leu) rs772386716 0.00001
NM_201253.3(CRB1):c.1732G>C (p.Val578Leu) rs769859765 0.00001
NM_201253.3(CRB1):c.1862C>T (p.Thr621Ile) rs1450290360 0.00001
NM_201253.3(CRB1):c.1883T>C (p.Leu628Pro) rs749411741 0.00001
NM_201253.3(CRB1):c.1909C>T (p.Pro637Ser) rs1457623741 0.00001
NM_201253.3(CRB1):c.1933G>T (p.Asp645Tyr) rs1218091828 0.00001
NM_201253.3(CRB1):c.1976C>T (p.Ser659Leu) rs986645649 0.00001
NM_201253.3(CRB1):c.2195G>C (p.Ser732Thr) rs757381371 0.00001
NM_201253.3(CRB1):c.2303A>G (p.Glu768Gly) rs771264436 0.00001
NM_201253.3(CRB1):c.2330C>T (p.Pro777Leu) rs886045784 0.00001
NM_201253.3(CRB1):c.2377G>A (p.Val793Ile) rs528781963 0.00001
NM_201253.3(CRB1):c.2404C>T (p.Pro802Ser) rs767723282 0.00001
NM_201253.3(CRB1):c.2636T>C (p.Val879Ala) rs772386967 0.00001
NM_201253.3(CRB1):c.265C>T (p.Pro89Ser) rs145525029 0.00001
NM_201253.3(CRB1):c.2713C>T (p.Arg905Trp) rs749366098 0.00001
NM_201253.3(CRB1):c.276G>C (p.Arg92Ser) rs751678963 0.00001
NM_201253.3(CRB1):c.2821C>A (p.Pro941Thr) rs374914600 0.00001
NM_201253.3(CRB1):c.2833G>A (p.Gly945Arg) rs749746650 0.00001
NM_201253.3(CRB1):c.2889C>A (p.Phe963Leu) rs905306614 0.00001
NM_201253.3(CRB1):c.2983G>A (p.Glu995Lys) rs62635655 0.00001
NM_201253.3(CRB1):c.3001A>G (p.Ile1001Val) rs1179276987 0.00001
NM_201253.3(CRB1):c.3250G>A (p.Asp1084Asn) rs769059111 0.00001
NM_201253.3(CRB1):c.3317A>G (p.Tyr1106Cys) rs115649214 0.00001
NM_201253.3(CRB1):c.3375T>A (p.Phe1125Leu) rs1226422852 0.00001
NM_201253.3(CRB1):c.3386C>T (p.Ser1129Phe) rs763011436 0.00001
NM_201253.3(CRB1):c.3440C>T (p.Pro1147Leu) rs1034421454 0.00001
NM_201253.3(CRB1):c.3620C>A (p.Thr1207Asn) rs1334175594 0.00001
NM_201253.3(CRB1):c.3637G>C (p.Val1213Leu) rs759022743 0.00001
NM_201253.3(CRB1):c.3727A>C (p.Asn1243His) rs746774206 0.00001
NM_201253.3(CRB1):c.3739A>G (p.Lys1247Glu) rs1222907981 0.00001
NM_201253.3(CRB1):c.3949A>C (p.Asn1317His) rs62636281 0.00001
NM_201253.3(CRB1):c.4000G>A (p.Val1334Met) rs754862028 0.00001
NM_201253.3(CRB1):c.4001T>C (p.Val1334Ala) rs778684885 0.00001
NM_201253.3(CRB1):c.4027G>A (p.Asp1343Asn) rs771181041 0.00001
NM_201253.3(CRB1):c.4043T>C (p.Ile1348Thr) rs774187022 0.00001
NM_201253.3(CRB1):c.4G>A (p.Ala2Thr) rs1203732030 0.00001
NM_201253.3(CRB1):c.547T>C (p.Cys183Arg) rs1658691162 0.00001
NM_201253.3(CRB1):c.559G>A (p.Val187Met) rs774621951 0.00001
NM_201253.3(CRB1):c.601T>C (p.Cys201Arg) rs762835866 0.00001
NM_201253.3(CRB1):c.635G>T (p.Cys212Phe) rs1658699227 0.00001
NM_201253.3(CRB1):c.65T>A (p.Ile22Lys) rs762741389 0.00001
NM_201253.3(CRB1):c.707G>A (p.Gly236Asp) rs778322895 0.00001
NM_201253.3(CRB1):c.713C>A (p.Thr238Asn) rs1452822430 0.00001
NM_201253.3(CRB1):c.745G>A (p.Asp249Asn) rs1461964160 0.00001
NM_201253.3(CRB1):c.892T>C (p.Cys298Arg) rs1412048468 0.00001
NM_201253.3(CRB1):c.914G>C (p.Cys305Ser) rs911156007 0.00001
NM_201253.3(CRB1):c.976C>T (p.His326Tyr) rs773386179 0.00001
NC_000001.10:g.(?_10003560)_(10035853_?)dup
NC_000001.10:g.(?_10003560)_(10042759_?)dup
NC_000001.10:g.(?_10032132)_(10041248_?)dup
NC_000001.10:g.(?_197237543)_(197237632_?)dup
NC_000001.10:g.(?_197297532)_(197326163_?)dup
NC_000001.10:g.(?_197297532)_(197447009_?)dup
NC_000001.10:g.(?_197390110)_(197398764_?)dup
NC_000001.10:g.(?_68895459)_(68915588_?)dup
NC_000001.10:g.(?_68914307)_(68919076_?)dup
NC_000001.11:g.(?_9972074)_(9981247_?)dup
NC_000008.10:g.(?_96037237)_(97345794_?)dup
NC_000014.8:g.(?_21671278)_(22005055_?)dup
NC_000014.8:g.(?_21795762)_(21798566_?)del
NC_000014.8:g.(?_21796563)_(21796806_?)del
NC_000014.8:g.(?_65937790)_(68354021_?)dup
NC_000014.8:g.(?_68189350)_(68200575_?)dup
NC_000014.8:g.(?_68200443)_(68200565_?)dup
NC_000014.8:g.(?_88391407)_(89343754_?)dup
NC_000014.8:g.(?_88883035)_(88904766_?)dup
NC_000014.8:g.(?_88903867)_(88904766_?)dup
NC_000014.9:g.(?_21287977)_(21288061_?)dup
NC_000014.9:g.(?_21327623)_(21330387_?)del
NC_000014.9:g.(?_88415231)_(88455149_?)dup
NC_000017.10:g.(?_6328780)_(6428803_?)dup
NC_000017.10:g.(?_6338309)_(6338424_?)dup
NC_000017.10:g.(?_7846709)_(8000124_?)dup
NC_000017.10:g.(?_7906366)_(8027402_?)dup
NC_000019.10:g.(?_47801775)_(47886257_?)del
NC_000019.10:g.(?_47818438)_(47886257_?)del
NC_000019.10:g.(?_47834444)_(47836394_?)del
NC_000019.10:g.(?_47839300)_(47839987_?)del
NC_000019.10:g.(?_47839320)_(47839967_?)del
NC_000019.9:g.(?_48337701)_(48337820_?)del
NC_000019.9:g.(?_48337701)_(48339671_?)dup
NC_000019.9:g.(?_48342557)_(48343224_?)dup
NM_000180.4(GUCY2D):c.1009G>A (p.Asp337Asn)
NM_000180.4(GUCY2D):c.1012C>G (p.Leu338Val) rs2151799779
NM_000180.4(GUCY2D):c.1018C>G (p.Leu340Val)
NM_000180.4(GUCY2D):c.1027G>T (p.Val343Phe)
NM_000180.4(GUCY2D):c.1031C>G (p.Ser344Cys) rs768812125
NM_000180.4(GUCY2D):c.1033C>G (p.Pro345Ala) rs755696904
NM_000180.4(GUCY2D):c.103C>G (p.Arg35Gly) rs1423033093
NM_000180.4(GUCY2D):c.104G>T (p.Arg35Leu) rs748156659
NM_000180.4(GUCY2D):c.1060G>A (p.Val354Ile) rs758931689
NM_000180.4(GUCY2D):c.1072G>A (p.Ala358Thr)
NM_000180.4(GUCY2D):c.1073C>T (p.Ala358Val)
NM_000180.4(GUCY2D):c.1080C>T (p.Gly360=) rs1264540934
NM_000180.4(GUCY2D):c.1094G>A (p.Arg365Gln) rs141917297
NM_000180.4(GUCY2D):c.110C>G (p.Pro37Arg)
NM_000180.4(GUCY2D):c.1120T>G (p.Ser374Ala) rs749607771
NM_000180.4(GUCY2D):c.1123G>A (p.Gly375Arg)
NM_000180.4(GUCY2D):c.112C>T (p.Leu38Phe)
NM_000180.4(GUCY2D):c.1139G>A (p.Arg380His)
NM_000180.4(GUCY2D):c.1148G>T (p.Arg383Leu)
NM_000180.4(GUCY2D):c.1183G>A (p.Gly395Arg)
NM_000180.4(GUCY2D):c.1192G>A (p.Glu398Lys)
NM_000180.4(GUCY2D):c.1210C>G (p.Leu404Val)
NM_000180.4(GUCY2D):c.1229C>G (p.Ala410Gly)
NM_000180.4(GUCY2D):c.1229C>T (p.Ala410Val) rs773030462
NM_000180.4(GUCY2D):c.1234G>A (p.Asp412Asn)
NM_000180.4(GUCY2D):c.1238G>A (p.Arg413Gln) rs1253086014
NM_000180.4(GUCY2D):c.1249A>T (p.Thr417Ser)
NM_000180.4(GUCY2D):c.1257G>T (p.Met419Ile) rs202111469
NM_000180.4(GUCY2D):c.1263T>A (p.Asp421Glu)
NM_000180.4(GUCY2D):c.1265C>T (p.Pro422Leu) rs2151800552
NM_000180.4(GUCY2D):c.1270C>T (p.Arg424Trp)
NM_000180.4(GUCY2D):c.1290C>A (p.Ala430=) rs141967896
NM_000180.4(GUCY2D):c.1296C>G (p.Thr432=)
NM_000180.4(GUCY2D):c.1297C>T (p.Arg433Trp) rs769749617
NM_000180.4(GUCY2D):c.1315G>T (p.Gly439Trp) rs140638938
NM_000180.4(GUCY2D):c.131TGC[1] (p.Leu45del) rs2151799258
NM_000180.4(GUCY2D):c.1340C>T (p.Pro447Leu)
NM_000180.4(GUCY2D):c.1343C>T (p.Ser448Leu) rs61749679
NM_000180.4(GUCY2D):c.1354G>C (p.Asp452His)
NM_000180.4(GUCY2D):c.1356T>G (p.Asp452Glu)
NM_000180.4(GUCY2D):c.1376G>A (p.Gly459Glu)
NM_000180.4(GUCY2D):c.1378+5G>A rs2151800630
NM_000180.4(GUCY2D):c.1378+5G>C rs2151800630
NM_000180.4(GUCY2D):c.1378+8C>T rs1457493139
NM_000180.4(GUCY2D):c.1394T>G (p.Leu465Arg)
NM_000180.4(GUCY2D):c.1396G>C (p.Val466Leu)
NM_000180.4(GUCY2D):c.139C>T (p.Pro47Ser)
NM_000180.4(GUCY2D):c.13G>A (p.Ala5Thr) rs1975657312
NM_000180.4(GUCY2D):c.1408T>C (p.Phe470Leu)
NM_000180.4(GUCY2D):c.140C>G (p.Pro47Arg)
NM_000180.4(GUCY2D):c.1420G>A (p.Val474Ile)
NM_000180.4(GUCY2D):c.1457A>G (p.Tyr486Cys)
NM_000180.4(GUCY2D):c.145G>A (p.Ala49Thr)
NM_000180.4(GUCY2D):c.1464-3C>G
NM_000180.4(GUCY2D):c.1472T>C (p.Leu491Pro)
NM_000180.4(GUCY2D):c.1480A>G (p.Met494Val)
NM_000180.4(GUCY2D):c.1482G>A (p.Met494Ile) rs2151800878
NM_000180.4(GUCY2D):c.1489G>A (p.Val497Ile) rs767360120
NM_000180.4(GUCY2D):c.1489G>T (p.Val497Phe) rs767360120
NM_000180.4(GUCY2D):c.1501A>G (p.Asn501Asp) rs1975767998
NM_000180.4(GUCY2D):c.1517C>G (p.Thr506Ser)
NM_000180.4(GUCY2D):c.1522GAC[1] (p.Asp509del) rs879629840
NM_000180.4(GUCY2D):c.1544C>T (p.Pro515Leu) rs1975769511
NM_000180.4(GUCY2D):c.1576G>A (p.Gly526Arg) rs1975777337
NM_000180.4(GUCY2D):c.1580G>A (p.Ser527Asn)
NM_000180.4(GUCY2D):c.1595G>C (p.Gly532Ala)
NM_000180.4(GUCY2D):c.1601G>T (p.Arg534Leu)
NM_000180.4(GUCY2D):c.1619G>A (p.Arg540His) rs372005126
NM_000180.4(GUCY2D):c.1619G>T (p.Arg540Leu) rs372005126
NM_000180.4(GUCY2D):c.1627C>T (p.Pro543Ser)
NM_000180.4(GUCY2D):c.1647C>A (p.Ser549Arg)
NM_000180.4(GUCY2D):c.1660G>A (p.Val554Ile) rs1975779836
NM_000180.4(GUCY2D):c.1668+4A>T
NM_000180.4(GUCY2D):c.169G>C (p.Gly57Arg)
NM_000180.4(GUCY2D):c.1714G>C (p.Ala572Pro)
NM_000180.4(GUCY2D):c.1748A>C (p.Lys583Thr)
NM_000180.4(GUCY2D):c.1749G>C (p.Lys583Asn)
NM_000180.4(GUCY2D):c.1750-6T>C
NM_000180.4(GUCY2D):c.1759C>G (p.Leu587Val)
NM_000180.4(GUCY2D):c.1759C>T (p.Leu587Phe)
NM_000180.4(GUCY2D):c.1766A>G (p.His589Arg) rs2151802328
NM_000180.4(GUCY2D):c.1770G>T (p.Glu590Asp)
NM_000180.4(GUCY2D):c.1771A>G (p.Asn591Asp) rs1975862803
NM_000180.4(GUCY2D):c.1774G>A (p.Val592Met) rs373362030
NM_000180.4(GUCY2D):c.1780C>T (p.Leu594Phe)
NM_000180.4(GUCY2D):c.1781T>A (p.Leu594His)
NM_000180.4(GUCY2D):c.1787T>A (p.Leu596Gln)
NM_000180.4(GUCY2D):c.1802C>T (p.Ala601Val)
NM_000180.4(GUCY2D):c.1804C>T (p.Arg602Trp) rs770740012
NM_000180.4(GUCY2D):c.1817G>A (p.Gly606Asp) rs1451847992
NM_000180.4(GUCY2D):c.1825G>A (p.Ala609Thr) rs1009884304
NM_000180.4(GUCY2D):c.1828C>G (p.Leu610Val)
NM_000180.4(GUCY2D):c.1838G>T (p.Gly613Val) rs2151802372
NM_000180.4(GUCY2D):c.1841A>C (p.Asn614Thr) rs1975865453
NM_000180.4(GUCY2D):c.1841A>G (p.Asn614Ser) rs1975865453
NM_000180.4(GUCY2D):c.1843C>G (p.Leu615Val)
NM_000180.4(GUCY2D):c.1847C>T (p.Ala616Val)
NM_000180.4(GUCY2D):c.1865G>T (p.Cys622Phe)
NM_000180.4(GUCY2D):c.1868C>G (p.Thr623Arg)
NM_000180.4(GUCY2D):c.1894G>A (p.Ala632Thr)
NM_000180.4(GUCY2D):c.1904A>G (p.Glu635Gly) rs1975867670
NM_000180.4(GUCY2D):c.1915G>T (p.Asp639Tyr)
NM_000180.4(GUCY2D):c.1956+11G>A
NM_000180.4(GUCY2D):c.1960A>C (p.Ile654Leu)
NM_000180.4(GUCY2D):c.1976A>G (p.His659Arg)
NM_000180.4(GUCY2D):c.1978C>G (p.Arg660Gly) rs61750161
NM_000180.4(GUCY2D):c.2015G>A (p.Cys672Tyr) rs1975873821
NM_000180.4(GUCY2D):c.2052C>A (p.Asp684Glu) rs935195316
NM_000180.4(GUCY2D):c.2093C>G (p.Pro698Arg) rs200128473
NM_000180.4(GUCY2D):c.209G>C (p.Arg70Pro)
NM_000180.4(GUCY2D):c.2107G>A (p.Ala703Thr) rs1270111845
NM_000180.4(GUCY2D):c.2112G>A (p.Glu704=)
NM_000180.4(GUCY2D):c.2113G>T (p.Asp705Tyr) rs1434526446
NM_000180.4(GUCY2D):c.2122T>C (p.Trp708Arg) rs1064797217
NM_000180.4(GUCY2D):c.2153C>G (p.Ala718Gly) rs2151802784
NM_000180.4(GUCY2D):c.2176G>A (p.Ala726Thr) rs1459595665
NM_000180.4(GUCY2D):c.2185G>A (p.Val729Ile)
NM_000180.4(GUCY2D):c.2190T>A (p.Phe730Leu)
NM_000180.4(GUCY2D):c.2204T>C (p.Ile735Thr) rs1975891409
NM_000180.4(GUCY2D):c.2206A>G (p.Met736Val) rs2151802824
NM_000180.4(GUCY2D):c.2207T>C (p.Met736Thr)
NM_000180.4(GUCY2D):c.2224C>T (p.Arg742Cys) rs532577225
NM_000180.4(GUCY2D):c.2266GTG[1] (p.Val757del) rs2151803037
NM_000180.4(GUCY2D):c.2290C>G (p.Pro764Ala)
NM_000180.4(GUCY2D):c.2290C>T (p.Pro764Ser) rs1975906957
NM_000180.4(GUCY2D):c.2312T>A (p.Val771Glu) rs2151803073
NM_000180.4(GUCY2D):c.2326G>A (p.Ala776Thr)
NM_000180.4(GUCY2D):c.232_243dup (p.Arg78_Ala81dup) rs1975666989
NM_000180.4(GUCY2D):c.2335G>A (p.Glu779Lys)
NM_000180.4(GUCY2D):c.2339G>A (p.Cys780Tyr) rs1187359735
NM_000180.4(GUCY2D):c.2348T>C (p.Leu783Pro) rs1166312966
NM_000180.4(GUCY2D):c.2351T>C (p.Met784Thr)
NM_000180.4(GUCY2D):c.2354A>C (p.Lys785Thr)
NM_000180.4(GUCY2D):c.2375C>T (p.Pro792Leu)
NM_000180.4(GUCY2D):c.2377G>A (p.Glu793Lys)
NM_000180.4(GUCY2D):c.238_252dup (p.Ala80_Leu84dup) rs952193754
NM_000180.4(GUCY2D):c.2392A>G (p.Met798Val) rs1975911307
NM_000180.4(GUCY2D):c.239C>T (p.Ala80Val)
NM_000180.4(GUCY2D):c.2402C>A (p.Thr801Asn)
NM_000180.4(GUCY2D):c.2412G>T (p.Leu804=)
NM_000180.4(GUCY2D):c.2431G>A (p.Gly811Ser) rs1196292120
NM_000180.4(GUCY2D):c.2434C>G (p.Arg812Gly) rs894774212
NM_000180.4(GUCY2D):c.2434C>T (p.Arg812Trp)
NM_000180.4(GUCY2D):c.2450T>C (p.Ile817Thr)
NM_000180.4(GUCY2D):c.2464C>T (p.Arg822Trp)
NM_000180.4(GUCY2D):c.2465G>A (p.Arg822Gln)
NM_000180.4(GUCY2D):c.2465G>C (p.Arg822Pro) rs398123233
NM_000180.4(GUCY2D):c.2473G>A (p.Glu825Lys)
NM_000180.4(GUCY2D):c.2479T>G (p.Tyr827Asp) rs2151803325
NM_000180.4(GUCY2D):c.2480A>G (p.Tyr827Cys) rs1975925661
NM_000180.4(GUCY2D):c.2492T>C (p.Leu831Pro) rs1975925973
NM_000180.4(GUCY2D):c.2494G>A (p.Glu832Lys) rs1975926150
NM_000180.4(GUCY2D):c.2515A>C (p.Thr839Pro)
NM_000180.4(GUCY2D):c.2516C>G (p.Thr839Arg) rs61750174
NM_000180.4(GUCY2D):c.2523GCTGGA[3] (p.Glu845_Lys846insLeuGlu)
NM_000180.4(GUCY2D):c.2531T>C (p.Leu844Pro) rs962715477
NM_000180.4(GUCY2D):c.2572C>A (p.Pro858Thr) rs61750176
NM_000180.4(GUCY2D):c.2600C>A (p.Thr867Lys) rs375727197
NM_000180.4(GUCY2D):c.260A>C (p.Asp87Ala)
NM_000180.4(GUCY2D):c.2618C>G (p.Pro873Arg) rs1567961680
NM_000180.4(GUCY2D):c.2624A>G (p.Tyr875Cys) rs1300820031
NM_000180.4(GUCY2D):c.2626T>A (p.Phe876Ile)
NM_000180.4(GUCY2D):c.2634A>G (p.Gln878=)
NM_000180.4(GUCY2D):c.2659G>T (p.Val887Leu)
NM_000180.4(GUCY2D):c.2674A>G (p.Ile892Val) rs1165720101
NM_000180.4(GUCY2D):c.2685G>A (p.Met895Ile)
NM_000180.4(GUCY2D):c.2707G>T (p.Asp903Tyr) rs1975936032
NM_000180.4(GUCY2D):c.272C>A (p.Ala91Glu)
NM_000180.4(GUCY2D):c.2746A>G (p.Ile916Val)
NM_000180.4(GUCY2D):c.2749G>T (p.Gly917Cys)
NM_000180.4(GUCY2D):c.2779A>G (p.Ile927Val) rs1975943872
NM_000180.4(GUCY2D):c.277G>C (p.Gly93Arg) rs749432012
NM_000180.4(GUCY2D):c.2788G>A (p.Ala930Thr) rs1370972064
NM_000180.4(GUCY2D):c.2813C>G (p.Pro938Arg) rs1975945188
NM_000180.4(GUCY2D):c.2830C>G (p.Arg944Gly) rs756575304
NM_000180.4(GUCY2D):c.2837C>A (p.Ala946Glu) rs61750180
NM_000180.4(GUCY2D):c.2842G>A (p.Glu948Lys) rs2151803652
NM_000180.4(GUCY2D):c.2845A>C (p.Ile949Leu)
NM_000180.4(GUCY2D):c.284G>C (p.Arg95Pro) rs1285198149
NM_000180.4(GUCY2D):c.2878G>C (p.Val960Leu)
NM_000180.4(GUCY2D):c.2881G>C (p.Gly961Arg) rs2151803673
NM_000180.4(GUCY2D):c.2882G>T (p.Gly961Val)
NM_000180.4(GUCY2D):c.2896C>G (p.Arg966Gly) rs933256547
NM_000180.4(GUCY2D):c.2897G>A (p.Arg966His)
NM_000180.4(GUCY2D):c.289G>A (p.Glu97Lys)
NM_000180.4(GUCY2D):c.2900A>G (p.His967Arg)
NM_000180.4(GUCY2D):c.2904G>T (p.Met968Ile) rs1975948376
NM_000180.4(GUCY2D):c.2917G>A (p.Val973Met)
NM_000180.4(GUCY2D):c.2929A>T (p.Ile977Leu)
NM_000180.4(GUCY2D):c.2933G>A (p.Gly978Asp) rs754320374
NM_000180.4(GUCY2D):c.2933G>C (p.Gly978Ala)
NM_000180.4(GUCY2D):c.2933G>T (p.Gly978Val) rs754320374
NM_000180.4(GUCY2D):c.2938C>T (p.His980Tyr)
NM_000180.4(GUCY2D):c.2945-7_2945-6del rs754170656
NM_000180.4(GUCY2D):c.2950T>C (p.Cys984Arg) rs1975956164
NM_000180.4(GUCY2D):c.295G>T (p.Ala99Ser) rs1304984076
NM_000180.4(GUCY2D):c.3005C>T (p.Thr1002Met) rs1462685344
NM_000180.4(GUCY2D):c.305C>A (p.Pro102His)
NM_000180.4(GUCY2D):c.3067A>G (p.Ser1023Gly)
NM_000180.4(GUCY2D):c.3085C>T (p.Arg1029Cys)
NM_000180.4(GUCY2D):c.3101G>A (p.Gly1034Asp)
NM_000180.4(GUCY2D):c.3106C>A (p.Gln1036Lys) rs61750192
NM_000180.4(GUCY2D):c.3122G>A (p.Gly1041Asp) rs1975964730
NM_000180.4(GUCY2D):c.3125G>A (p.Arg1042His)
NM_000180.4(GUCY2D):c.3128C>T (p.Thr1043Met) rs1289590584
NM_000180.4(GUCY2D):c.3137A>G (p.Lys1046Arg)
NM_000180.4(GUCY2D):c.3139-3C>G rs771769796
NM_000180.4(GUCY2D):c.3140G>A (p.Gly1047Asp)
NM_000180.4(GUCY2D):c.3148G>T (p.Ala1050Ser) rs1221467842
NM_000180.4(GUCY2D):c.3151G>A (p.Glu1051Lys) rs1273973537
NM_000180.4(GUCY2D):c.3167T>C (p.Leu1056Pro) rs2151804090
NM_000180.4(GUCY2D):c.317G>T (p.Arg106Leu)
NM_000180.4(GUCY2D):c.3188A>G (p.Asn1063Ser) rs1975972260
NM_000180.4(GUCY2D):c.319A>G (p.Thr107Ala) rs2151799362
NM_000180.4(GUCY2D):c.3200C>A (p.Pro1067His)
NM_000180.4(GUCY2D):c.3224+3G>T rs1258995063
NM_000180.4(GUCY2D):c.3224+6G>A
NM_000180.4(GUCY2D):c.3225-2A>T
NM_000180.4(GUCY2D):c.323C>T (p.Pro108Leu) rs2151799367
NM_000180.4(GUCY2D):c.3258C>G (p.Ile1086Met)
NM_000180.4(GUCY2D):c.325G>T (p.Gly109Cys)
NM_000180.4(GUCY2D):c.3265G>A (p.Glu1089Lys) rs779735498
NM_000180.4(GUCY2D):c.3265G>C (p.Glu1089Gln)
NM_000180.4(GUCY2D):c.3268C>T (p.Arg1090Trp)
NM_000180.4(GUCY2D):c.3269G>A (p.Arg1090Gln) rs371952237
NM_000180.4(GUCY2D):c.3289G>T (p.Ala1097Ser)
NM_000180.4(GUCY2D):c.3292C>G (p.Arg1098Gly) rs776624188
NM_000180.4(GUCY2D):c.3292C>T (p.Arg1098Trp) rs776624188
NM_000180.4(GUCY2D):c.3311G>C (p.Ter1104Ser) rs1301554038
NM_000180.4(GUCY2D):c.340G>T (p.Val114Leu) rs1240857882
NM_000180.4(GUCY2D):c.346T>C (p.Ser116Pro) rs2151799381
NM_000180.4(GUCY2D):c.392C>A (p.Ala131Glu)
NM_000180.4(GUCY2D):c.400C>T (p.Arg134Trp) rs2151799404
NM_000180.4(GUCY2D):c.40C>A (p.Pro14Thr)
NM_000180.4(GUCY2D):c.40C>G (p.Pro14Ala) rs1975658549
NM_000180.4(GUCY2D):c.411G>C (p.Glu137Asp)
NM_000180.4(GUCY2D):c.418G>A (p.Ala140Thr) rs776276813
NM_000180.4(GUCY2D):c.431G>T (p.Gly144Val) rs1975674167
NM_000180.4(GUCY2D):c.448T>C (p.Trp150Arg)
NM_000180.4(GUCY2D):c.449G>C (p.Trp150Ser)
NM_000180.4(GUCY2D):c.457C>T (p.Pro153Ser)
NM_000180.4(GUCY2D):c.475G>A (p.Gly159Ser) rs1975674812
NM_000180.4(GUCY2D):c.485C>A (p.Ala162Asp)
NM_000180.4(GUCY2D):c.490G>A (p.Ala164Thr)
NM_000180.4(GUCY2D):c.49T>C (p.Cys17Arg) rs1008930073
NM_000180.4(GUCY2D):c.520G>T (p.Ala174Ser) rs978982123
NM_000180.4(GUCY2D):c.521C>A (p.Ala174Asp)
NM_000180.4(GUCY2D):c.526C>T (p.Leu176Phe) rs1975677447
NM_000180.4(GUCY2D):c.533C>T (p.Ala178Val)
NM_000180.4(GUCY2D):c.569C>G (p.Pro190Arg) rs1484809146
NM_000180.4(GUCY2D):c.590C>T (p.Ala197Val)
NM_000180.4(GUCY2D):c.595C>T (p.Arg199Cys) rs917296356
NM_000180.4(GUCY2D):c.598T>C (p.Ser200Pro)
NM_000180.4(GUCY2D):c.607A>T (p.Thr203Ser) rs1975680506
NM_000180.4(GUCY2D):c.608C>T (p.Thr203Met) rs1975680589
NM_000180.4(GUCY2D):c.685G>T (p.Ala229Ser)
NM_000180.4(GUCY2D):c.693G>T (p.Arg231Ser) rs759280279
NM_000180.4(GUCY2D):c.705C>A (p.Asp235Glu)
NM_000180.4(GUCY2D):c.721+5G>C
NM_000180.4(GUCY2D):c.721+5G>T rs1389913804
NM_000180.4(GUCY2D):c.722-17C>T
NM_000180.4(GUCY2D):c.725T>G (p.Val242Gly) rs1975686657
NM_000180.4(GUCY2D):c.736A>G (p.Met246Val) rs959135126
NM_000180.4(GUCY2D):c.743C>G (p.Ser248Trp) rs138922415
NM_000180.4(GUCY2D):c.752T>C (p.Leu251Pro) rs1243270832
NM_000180.4(GUCY2D):c.763G>A (p.Glu255Lys)
NM_000180.4(GUCY2D):c.767A>C (p.Gln256Pro) rs2151799650
NM_000180.4(GUCY2D):c.785C>A (p.Ala262Asp)
NM_000180.4(GUCY2D):c.787G>C (p.Ala263Pro)
NM_000180.4(GUCY2D):c.787G>T (p.Ala263Ser) rs745444949
NM_000180.4(GUCY2D):c.796C>G (p.Leu266Val)
NM_000180.4(GUCY2D):c.835G>A (p.Asp279Asn) rs1478566225
NM_000180.4(GUCY2D):c.838A>G (p.Thr280Ala)
NM_000180.4(GUCY2D):c.856_876dup (p.Ser286_Leu292dup) rs2151799690
NM_000180.4(GUCY2D):c.857C>T (p.Ser286Phe)
NM_000180.4(GUCY2D):c.85C>T (p.Leu29Phe)
NM_000180.4(GUCY2D):c.884T>G (p.Leu295Arg) rs2151799705
NM_000180.4(GUCY2D):c.890A>G (p.Asn297Ser)
NM_000180.4(GUCY2D):c.915C>G (p.His305Gln)
NM_000180.4(GUCY2D):c.91C>G (p.Arg31Gly)
NM_000180.4(GUCY2D):c.92G>A (p.Arg31Gln)
NM_000180.4(GUCY2D):c.934A>G (p.Thr312Ala)
NM_000180.4(GUCY2D):c.935C>A (p.Thr312Lys)
NM_000180.4(GUCY2D):c.935C>G (p.Thr312Arg) rs61749673
NM_000180.4(GUCY2D):c.94_105del (p.Ala32_Arg35del)
NM_000180.4(GUCY2D):c.956_967dup (p.Gly319_Leu322dup) rs1248938251
NM_000180.4(GUCY2D):c.983C>A (p.Ala328Asp)
NM_000180.4(GUCY2D):c.992G>T (p.Arg331Leu)
NM_000180.4(GUCY2D):c.995G>C (p.Arg332Pro)
NM_000180.4(GUCY2D):c.997G>C (p.Glu333Gln) rs755999834
NM_000329.3(RPE65):c.1013A>G (p.Tyr338Cys) rs1645875407
NM_000329.3(RPE65):c.101T>C (p.Ile34Thr)
NM_000329.3(RPE65):c.1031C>T (p.Ala344Val)
NM_000329.3(RPE65):c.1038A>C (p.Leu346Phe) rs2100817108
NM_000329.3(RPE65):c.1040G>T (p.Arg347Leu) rs562037932
NM_000329.3(RPE65):c.1058T>G (p.Val353Gly) rs2100817038
NM_000329.3(RPE65):c.1060A>G (p.Lys354Glu)
NM_000329.3(RPE65):c.1078G>A (p.Ala360Thr) rs62646883
NM_000329.3(RPE65):c.1088C>A (p.Pro363His)
NM_000329.3(RPE65):c.1098G>C (p.Arg366Ser) rs764589805
NM_000329.3(RPE65):c.11+4_11+7del
NM_000329.3(RPE65):c.1101A>G (p.Arg367=) rs1553152989
NM_000329.3(RPE65):c.1115T>C (p.Leu372Ser)
NM_000329.3(RPE65):c.1118A>G (p.Asn373Ser) rs1645874179
NM_000329.3(RPE65):c.1123G>A (p.Asp375Asn) rs1645874113
NM_000329.3(RPE65):c.1123G>C (p.Asp375His) rs1645874113
NM_000329.3(RPE65):c.1149A>T (p.Leu383Phe)
NM_000329.3(RPE65):c.1150G>T (p.Val384Phe) rs1645826797
NM_000329.3(RPE65):c.1169C>T (p.Thr390Ile) rs1645826475
NM_000329.3(RPE65):c.1183C>A (p.Leu395Met)
NM_000329.3(RPE65):c.1190G>A (p.Ser397Asn)
NM_000329.3(RPE65):c.1201_1203dup (p.Ile401dup) rs2100807868
NM_000329.3(RPE65):c.1213C>G (p.Pro405Ala)
NM_000329.3(RPE65):c.1234C>T (p.Pro412Ser)
NM_000329.3(RPE65):c.1265A>G (p.Asn422Ser)
NM_000329.3(RPE65):c.1291T>C (p.Tyr431His)
NM_000329.3(RPE65):c.1294A>C (p.Thr432Pro) rs1645824500
NM_000329.3(RPE65):c.1294A>T (p.Thr432Ser) rs1645824500
NM_000329.3(RPE65):c.1298A>G (p.Tyr433Cys) rs147206805
NM_000329.3(RPE65):c.1307G>A (p.Gly436Glu) rs62637002
NM_000329.3(RPE65):c.131G>T (p.Arg44Leu) rs61751282
NM_000329.3(RPE65):c.1322A>G (p.His441Arg) rs1645824226
NM_000329.3(RPE65):c.1328T>C (p.Val443Ala) rs1645824187
NM_000329.3(RPE65):c.1338+3A>T rs1645824066
NM_000329.3(RPE65):c.1339-3C>G
NM_000329.3(RPE65):c.1357A>G (p.Lys453Glu)
NM_000329.3(RPE65):c.1359A>T (p.Lys453Asn)
NM_000329.3(RPE65):c.1380G>T (p.Trp460Cys) rs1645823028
NM_000329.3(RPE65):c.1402T>A (p.Ser468Thr) rs2100806926
NM_000329.3(RPE65):c.1409C>A (p.Pro470His) rs774211361
NM_000329.3(RPE65):c.1412T>C (p.Ile471Thr)
NM_000329.3(RPE65):c.1424A>C (p.His475Pro) rs2100806867
NM_000329.3(RPE65):c.1429G>C (p.Asp477His) rs2100806843
NM_000329.3(RPE65):c.1432G>A (p.Ala478Thr) rs2100806829
NM_000329.3(RPE65):c.1440AGA[1] (p.Glu481del) rs1557595745
NM_000329.3(RPE65):c.1444G>T (p.Asp482Tyr) rs2100806802
NM_000329.3(RPE65):c.1450+3A>G
NM_000329.3(RPE65):c.1456G>A (p.Val486Ile)
NM_000329.3(RPE65):c.1456G>T (p.Val486Phe) rs2100805317
NM_000329.3(RPE65):c.1496C>T (p.Pro499Leu) rs1557595139
NM_000329.3(RPE65):c.1524G>C (p.Lys508Asn)
NM_000329.3(RPE65):c.1525G>A (p.Asp509Asn)
NM_000329.3(RPE65):c.1532G>A (p.Ser511Asn) rs1645807408
NM_000329.3(RPE65):c.1534G>A (p.Glu512Lys)
NM_000329.3(RPE65):c.1555G>A (p.Glu519Lys) rs373274945
NM_000329.3(RPE65):c.1580A>G (p.His527Arg) rs1194458561
NM_000329.3(RPE65):c.1582G>A (p.Gly528Arg) rs150832066
NM_000329.3(RPE65):c.158G>A (p.Gly53Glu)
NM_000329.3(RPE65):c.158G>T (p.Gly53Val) rs763536294
NM_000329.3(RPE65):c.166C>T (p.Pro56Ser)
NM_000329.3(RPE65):c.171T>G (p.Phe57Leu) rs2100831318
NM_000329.3(RPE65):c.20A>G (p.His7Arg)
NM_000329.3(RPE65):c.215T>C (p.Phe72Ser) rs1553153597
NM_000329.3(RPE65):c.220G>A (p.Glu74Lys) rs2100831197
NM_000329.3(RPE65):c.220G>C (p.Glu74Gln) rs2100831197
NM_000329.3(RPE65):c.221A>G (p.Glu74Gly) rs2100831191
NM_000329.3(RPE65):c.227A>G (p.His76Arg) rs1571172233
NM_000329.3(RPE65):c.256A>G (p.Thr86Ala) rs2100828493
NM_000329.3(RPE65):c.257C>A (p.Thr86Asn) rs1645931073
NM_000329.3(RPE65):c.260A>G (p.Asp87Gly) rs1645931040
NM_000329.3(RPE65):c.280A>G (p.Thr94Ala) rs1645930710
NM_000329.3(RPE65):c.280A>T (p.Thr94Ser)
NM_000329.3(RPE65):c.284A>G (p.Glu95Gly)
NM_000329.3(RPE65):c.293T>C (p.Ile98Thr) rs1645930635
NM_000329.3(RPE65):c.308T>C (p.Phe103Ser) rs1645930469
NM_000329.3(RPE65):c.314C>A (p.Thr105Asn) rs1260914084
NM_000329.3(RPE65):c.317G>A (p.Cys106Tyr)
NM_000329.3(RPE65):c.325C>T (p.Pro109Ser)
NM_000329.3(RPE65):c.353+4A>T rs1299116346
NM_000329.3(RPE65):c.371G>A (p.Arg124Gln)
NM_000329.3(RPE65):c.37A>C (p.Lys13Gln)
NM_000329.3(RPE65):c.37A>G (p.Lys13Glu)
NM_000329.3(RPE65):c.382G>A (p.Val128Ile)
NM_000329.3(RPE65):c.386C>T (p.Thr129Ile) rs768336015
NM_000329.3(RPE65):c.400G>A (p.Val134Ile)
NM_000329.3(RPE65):c.400_402del (p.Val134del) rs1170746947
NM_000329.3(RPE65):c.406G>C (p.Val136Leu)
NM_000329.3(RPE65):c.415G>A (p.Val139Met)
NM_000329.3(RPE65):c.425A>T (p.Asp142Val)
NM_000329.3(RPE65):c.434C>T (p.Ala145Val)
NM_000329.3(RPE65):c.455T>C (p.Ile152Thr)
NM_000329.3(RPE65):c.462G>C (p.Lys154Asn) rs2100827532
NM_000329.3(RPE65):c.485C>T (p.Thr162Ile) rs1360779220
NM_000329.3(RPE65):c.497T>C (p.Val166Ala) rs2100821973
NM_000329.3(RPE65):c.535G>A (p.Ala179Thr) rs1645898290
NM_000329.3(RPE65):c.536C>T (p.Ala179Val) rs1645898265
NM_000329.3(RPE65):c.53C>G (p.Thr18Ser) rs1645959906
NM_000329.3(RPE65):c.548T>C (p.Ile183Thr)
NM_000329.3(RPE65):c.557A>T (p.Asp186Val)
NM_000329.3(RPE65):c.55G>A (p.Val19Met)
NM_000329.3(RPE65):c.56T>A (p.Val19Glu) rs1645959875
NM_000329.3(RPE65):c.571A>G (p.Asn191Asp) rs1189903735
NM_000329.3(RPE65):c.58G>A (p.Glu20Lys) rs755545288
NM_000329.3(RPE65):c.597T>A (p.Asn199Lys)
NM_000329.3(RPE65):c.598T>G (p.Phe200Val) rs1406145019
NM_000329.3(RPE65):c.616A>G (p.Ile206Val)
NM_000329.3(RPE65):c.624G>T (p.Lys208Asn) rs1170839612
NM_000329.3(RPE65):c.625A>T (p.Ile209Phe)
NM_000329.3(RPE65):c.629C>G (p.Pro210Arg) rs757538512
NM_000329.3(RPE65):c.638A>C (p.Gln213Pro) rs1224080719
NM_000329.3(RPE65):c.641C>T (p.Ala214Val)
NM_000329.3(RPE65):c.643+3G>A rs1277690393
NM_000329.3(RPE65):c.648G>A (p.Lys216=)
NM_000329.3(RPE65):c.650A>T (p.Glu217Val) rs777646597
NM_000329.3(RPE65):c.652G>T (p.Asp218Tyr)
NM_000329.3(RPE65):c.658A>G (p.Ile220Val)
NM_000329.3(RPE65):c.676G>T (p.Val226Phe)
NM_000329.3(RPE65):c.718G>A (p.Val240Ile) rs192907397
NM_000329.3(RPE65):c.725+5C>T rs923933222
NM_000329.3(RPE65):c.725+6T>C rs2100819643
NM_000329.3(RPE65):c.726-3C>A
NM_000329.3(RPE65):c.72_73insAGGAACTGT (p.Ser24_Pro25insArgAsnCys) rs2100834242
NM_000329.3(RPE65):c.731G>A (p.Gly244Asp) rs2100819283
NM_000329.3(RPE65):c.751G>A (p.Val251Ile) rs1325815513
NM_000329.3(RPE65):c.782T>C (p.Leu261Pro)
NM_000329.3(RPE65):c.802T>A (p.Trp268Arg)
NM_000329.3(RPE65):c.818C>A (p.Ala273Asp)
NM_000329.3(RPE65):c.826A>G (p.Met276Val)
NM_000329.3(RPE65):c.82G>T (p.Ala28Ser)
NM_000329.3(RPE65):c.83C>A (p.Ala28Asp)
NM_000329.3(RPE65):c.840G>C (p.Glu280Asp)
NM_000329.3(RPE65):c.851C>T (p.Thr284Ile)
NM_000329.3(RPE65):c.853A>T (p.Met285Leu)
NM_000329.3(RPE65):c.86A>G (p.His29Arg)
NM_000329.3(RPE65):c.871A>G (p.Ile291Val)
NM_000329.3(RPE65):c.872T>C (p.Ile291Thr)
NM_000329.3(RPE65):c.880A>G (p.Lys294Glu)
NM_000329.3(RPE65):c.902A>C (p.Asn301Thr)
NM_000329.3(RPE65):c.922C>T (p.Pro308Ser)
NM_000329.3(RPE65):c.946A>G (p.Asn316Asp) rs2100818454
NM_000329.3(RPE65):c.998G>A (p.Gly333Glu) rs1173207597
NM_000329.3(RPE65):c.999-3C>G rs2100817189
NM_000554.6(CRX):c.100+3G>C rs1568624171
NM_000554.6(CRX):c.106C>T (p.Pro36Ser)
NM_000554.6(CRX):c.108del (p.Arg37fs) rs2123739840
NM_000554.6(CRX):c.119G>C (p.Arg40Pro)
NM_000554.6(CRX):c.125_128dup (p.Thr44fs) rs2123739871
NM_000554.6(CRX):c.127C>A (p.Arg43Ser) rs1437021651
NM_000554.6(CRX):c.128G>T (p.Arg43Leu) rs771736389
NM_000554.6(CRX):c.133A>G (p.Thr45Ala)
NM_000554.6(CRX):c.143G>A (p.Arg48Gln)
NM_000554.6(CRX):c.176_177del (p.Ala59fs) rs2123739943
NM_000554.6(CRX):c.182C>T (p.Thr61Ile) rs1599985527
NM_000554.6(CRX):c.196G>T (p.Val66Phe) rs61748438
NM_000554.6(CRX):c.205C>G (p.Arg69Gly)
NM_000554.6(CRX):c.211G>A (p.Glu71Lys)
NM_000554.6(CRX):c.226A>T (p.Ile76Phe) rs2123740000
NM_000554.6(CRX):c.253-1G>T
NM_000554.6(CRX):c.258G>C (p.Trp86Cys) rs1968160766
NM_000554.6(CRX):c.25C>T (p.Pro9Ser) rs2123738269
NM_000554.6(CRX):c.262A>G (p.Lys88Glu) rs1968160874
NM_000554.6(CRX):c.263A>G (p.Lys88Arg) rs1001151383
NM_000554.6(CRX):c.274G>A (p.Ala92Thr) rs786205521
NM_000554.6(CRX):c.274G>C (p.Ala92Pro) rs786205521
NM_000554.6(CRX):c.281G>A (p.Cys94Tyr)
NM_000554.6(CRX):c.319C>G (p.Pro107Ala)
NM_000554.6(CRX):c.323del (p.Pro108fs) rs1968162287
NM_000554.6(CRX):c.324del (p.Gly110fs) rs2123742895
NM_000554.6(CRX):c.349G>A (p.Ala117Thr) rs1599991109
NM_000554.6(CRX):c.362C>T (p.Ala121Val)
NM_000554.6(CRX):c.365del (p.Gly122fs) rs1968163226
NM_000554.6(CRX):c.377G>A (p.Arg126Lys) rs1299569341
NM_000554.6(CRX):c.37G>C (p.Val13Leu)
NM_000554.6(CRX):c.380C>T (p.Pro127Leu)
NM_000554.6(CRX):c.381del (p.Ser128fs) rs1599991268
NM_000554.6(CRX):c.404C>G (p.Pro135Arg) rs2123743010
NM_000554.6(CRX):c.407_416dup (p.Asp140fs) rs1968164438
NM_000554.6(CRX):c.415T>G (p.Ser139Ala) rs373281561
NM_000554.6(CRX):c.426C>A (p.Tyr142Ter) rs1968164899
NM_000554.6(CRX):c.42C>A (p.Asn14Lys) rs774344094
NM_000554.6(CRX):c.435del (p.Leu146fs) rs1968165217
NM_000554.6(CRX):c.442G>C (p.Gly148Arg) rs760080266
NM_000554.6(CRX):c.484A>C (p.Ile162Leu)
NM_000554.6(CRX):c.488G>A (p.Trp163Ter)
NM_000554.6(CRX):c.494del (p.Pro165fs) rs2123743155
NM_000554.6(CRX):c.497C>A (p.Ala166Asp)
NM_000554.6(CRX):c.501del (p.Glu168fs) rs2123743175
NM_000554.6(CRX):c.509del (p.Pro170fs) rs2123743184
NM_000554.6(CRX):c.526C>T (p.Arg176Trp) rs543243551
NM_000554.6(CRX):c.527G>A (p.Arg176Gln)
NM_000554.6(CRX):c.529del (p.Ala177fs) rs61748449
NM_000554.6(CRX):c.532G>C (p.Gly178Arg)
NM_000554.6(CRX):c.533G>C (p.Gly178Ala) rs926713896
NM_000554.6(CRX):c.541_542del (p.Ala181fs)
NM_000554.6(CRX):c.557del (p.Leu186fs)
NM_000554.6(CRX):c.565G>C (p.Ala189Pro) rs142111462
NM_000554.6(CRX):c.566C>T (p.Ala189Val)
NM_000554.6(CRX):c.575C>A (p.Ala192Asp)
NM_000554.6(CRX):c.578T>A (p.Met193Lys) rs771206912
NM_000554.6(CRX):c.581C>A (p.Thr194Asn) rs774657041
NM_000554.6(CRX):c.586G>T (p.Ala196Ser)
NM_000554.6(CRX):c.587C>T (p.Ala196Val) rs1372852556
NM_000554.6(CRX):c.591_594dup (p.Ser199fs)
NM_000554.6(CRX):c.592del (p.Ala198fs) rs1968169272
NM_000554.6(CRX):c.593C>T (p.Ala198Val) rs776232503
NM_000554.6(CRX):c.594_606del (p.Ser199fs) rs1968169319
NM_000554.6(CRX):c.597del (p.Ala200fs) rs2123743359
NM_000554.6(CRX):c.598G>A (p.Ala200Thr)
NM_000554.6(CRX):c.605del (p.Cys202fs) rs878853383
NM_000554.6(CRX):c.60C>G (p.Gly20=) rs769017861
NM_000554.6(CRX):c.626G>A (p.Gly209Glu) rs1968170166
NM_000554.6(CRX):c.628T>G (p.Ser210Ala)
NM_000554.6(CRX):c.658C>A (p.Pro220Thr)
NM_000554.6(CRX):c.660del (p.Tyr221fs) rs864309707
NM_000554.6(CRX):c.660dup (p.Tyr221fs) rs864309707
NM_000554.6(CRX):c.673A>G (p.Met225Val)
NM_000554.6(CRX):c.675G>C (p.Met225Ile)
NM_000554.6(CRX):c.684G>C (p.Gln228His) rs756105390
NM_000554.6(CRX):c.684_685delinsAA (p.Leu229Ile) rs1968171338
NM_000554.6(CRX):c.695C>T (p.Pro232Leu)
NM_000554.6(CRX):c.702T>C (p.Leu234=) rs992252014
NM_000554.6(CRX):c.709C>A (p.Leu237Ile)
NM_000554.6(CRX):c.713C>A (p.Ser238Tyr) rs1968172066
NM_000554.6(CRX):c.719C>T (p.Pro240Leu)
NM_000554.6(CRX):c.728dup (p.Pro244fs) rs1968172289
NM_000554.6(CRX):c.740C>A (p.Ala247Asp)
NM_000554.6(CRX):c.750del (p.Thr251fs) rs2123743577
NM_000554.6(CRX):c.753del (p.Ser252fs) rs61749660
NM_000554.6(CRX):c.755C>T (p.Ser252Phe)
NM_000554.6(CRX):c.773A>G (p.Tyr258Cys)
NM_000554.6(CRX):c.783C>G (p.Tyr261Ter) rs2123743638
NM_000554.6(CRX):c.784A>G (p.Ser262Gly)
NM_000554.6(CRX):c.790G>T (p.Val264Leu) rs138146799
NM_000554.6(CRX):c.793G>T (p.Asp265Tyr) rs751790087
NM_000554.6(CRX):c.794A>T (p.Asp265Val) rs2123743660
NM_000554.6(CRX):c.798del (p.Leu267fs) rs2123743667
NM_000554.6(CRX):c.799T>G (p.Leu267Val)
NM_000554.6(CRX):c.806T>A (p.Phe269Tyr) rs2123743672
NM_000554.6(CRX):c.834C>A (p.Phe278Leu)
NM_000554.6(CRX):c.841A>G (p.Asn281Asp) rs2123743725
NM_000554.6(CRX):c.844C>T (p.Pro282Ser)
NM_000554.6(CRX):c.857T>C (p.Leu286Pro) rs886054547
NM_000554.6(CRX):c.85G>A (p.Ala29Thr)
NM_000554.6(CRX):c.863A>G (p.Tyr288Cys)
NM_000554.6(CRX):c.871C>T (p.Gln291Ter) rs2123743754
NM_000554.6(CRX):c.873G>T (p.Gln291His) rs1968174829
NM_000554.6(CRX):c.893T>A (p.Ile298Asn) rs2123743769
NM_000554.6(CRX):c.89T>A (p.Val30Glu)
NM_001001557.4(GDF6):c.1001G>A (p.Arg334Gln)
NM_001001557.4(GDF6):c.1002_1003delinsAG (p.Arg335Gly) rs1812445134
NM_001001557.4(GDF6):c.100T>C (p.Ser34Pro) rs2130238372
NM_001001557.4(GDF6):c.1012T>C (p.Phe338Leu)
NM_001001557.4(GDF6):c.1022G>A (p.Arg341His) rs764936321
NM_001001557.4(GDF6):c.1025A>G (p.His342Arg)
NM_001001557.4(GDF6):c.106G>A (p.Glu36Lys)
NM_001001557.4(GDF6):c.1080C>A (p.His360Gln) rs1812443639
NM_001001557.4(GDF6):c.1081G>A (p.Val361Met) rs771878776
NM_001001557.4(GDF6):c.1094A>C (p.Glu365Ala)
NM_001001557.4(GDF6):c.1099G>A (p.Gly367Ser) rs745989382
NM_001001557.4(GDF6):c.10C>T (p.Pro4Ser) rs1812746374
NM_001001557.4(GDF6):c.1144C>T (p.His382Tyr) rs2130205366
NM_001001557.4(GDF6):c.1145A>T (p.His382Leu)
NM_001001557.4(GDF6):c.1178C>T (p.Ser393Leu) rs926947319
NM_001001557.4(GDF6):c.119C>T (p.Thr40Ile)
NM_001001557.4(GDF6):c.1214C>T (p.Thr405Met)
NM_001001557.4(GDF6):c.1229T>G (p.Met410Arg) rs1812440547
NM_001001557.4(GDF6):c.122A>G (p.Lys41Arg)
NM_001001557.4(GDF6):c.1244C>T (p.Thr415Ile) rs1269055850
NM_001001557.4(GDF6):c.1268C>T (p.Thr423Ile) rs769886732
NM_001001557.4(GDF6):c.1306G>A (p.Gly436Ser) rs1352200590
NM_001001557.4(GDF6):c.131_132delinsTT (p.Arg44Leu)
NM_001001557.4(GDF6):c.1333G>C (p.Glu445Gln) rs1331641099
NM_001001557.4(GDF6):c.1357G>A (p.Gly453Ser) rs1178158158
NM_001001557.4(GDF6):c.136C>T (p.Arg46Cys)
NM_001001557.4(GDF6):c.158G>A (p.Arg53Gln)
NM_001001557.4(GDF6):c.184C>T (p.Arg62Trp)
NM_001001557.4(GDF6):c.209G>A (p.Arg70Gln)
NM_001001557.4(GDF6):c.212C>T (p.Pro71Leu)
NM_001001557.4(GDF6):c.219C>A (p.Asp73Glu)
NM_001001557.4(GDF6):c.223C>A (p.Pro75Thr) rs1040541530
NM_001001557.4(GDF6):c.227G>A (p.Arg76Gln)
NM_001001557.4(GDF6):c.229G>C (p.Ala77Pro)
NM_001001557.4(GDF6):c.239C>T (p.Pro80Leu) rs2130237859
NM_001001557.4(GDF6):c.245C>A (p.Ala82Glu)
NM_001001557.4(GDF6):c.251A>G (p.Glu84Gly)
NM_001001557.4(GDF6):c.268C>T (p.Pro90Ser)
NM_001001557.4(GDF6):c.26C>T (p.Ser9Leu)
NM_001001557.4(GDF6):c.272G>C (p.Arg91Pro) rs768741148
NM_001001557.4(GDF6):c.283C>T (p.His95Tyr) rs2130237638
NM_001001557.4(GDF6):c.286G>C (p.Glu96Gln)
NM_001001557.4(GDF6):c.298T>C (p.Ser100Pro) rs2130237604
NM_001001557.4(GDF6):c.301A>G (p.Ile101Val)
NM_001001557.4(GDF6):c.316T>A (p.Ser106Thr) rs751465124
NM_001001557.4(GDF6):c.31G>A (p.Val11Ile) rs1812745847
NM_001001557.4(GDF6):c.323C>A (p.Ala108Asp) rs1812739209
NM_001001557.4(GDF6):c.332T>G (p.Leu111Arg)
NM_001001557.4(GDF6):c.348C>G (p.Ser116Arg)
NM_001001557.4(GDF6):c.362C>T (p.Ser121Phe) rs772435568
NM_001001557.4(GDF6):c.365A>C (p.Lys122Thr) rs2130237421
NM_001001557.4(GDF6):c.377C>T (p.Thr126Met) rs536331514
NM_001001557.4(GDF6):c.413T>C (p.Leu138Pro) rs2130208544
NM_001001557.4(GDF6):c.428T>C (p.Leu143Pro) rs1812463179
NM_001001557.4(GDF6):c.449T>C (p.Phe150Ser)
NM_001001557.4(GDF6):c.454G>A (p.Val152Met)
NM_001001557.4(GDF6):c.457T>C (p.Ser153Pro) rs1470026888
NM_001001557.4(GDF6):c.457_458delinsAA (p.Ser153Asn) rs2130208395
NM_001001557.4(GDF6):c.460A>C (p.Met154Leu) rs766667262
NM_001001557.4(GDF6):c.460A>G (p.Met154Val) rs766667262
NM_001001557.4(GDF6):c.461T>C (p.Met154Thr)
NM_001001557.4(GDF6):c.481C>G (p.Leu161Val) rs958381615
NM_001001557.4(GDF6):c.535C>A (p.Pro179Thr)
NM_001001557.4(GDF6):c.544G>A (p.Gly182Arg)
NM_001001557.4(GDF6):c.581C>A (p.Pro194His)
NM_001001557.4(GDF6):c.5A>G (p.Asp2Gly)
NM_001001557.4(GDF6):c.607G>T (p.Asp203Tyr)
NM_001001557.4(GDF6):c.60G>T (p.Leu20Phe)
NM_001001557.4(GDF6):c.611C>A (p.Pro204Gln)
NM_001001557.4(GDF6):c.611C>T (p.Pro204Leu) rs999492360
NM_001001557.4(GDF6):c.616G>A (p.Gly206Arg)
NM_001001557.4(GDF6):c.616G>C (p.Gly206Arg)
NM_001001557.4(GDF6):c.619G>A (p.Ala207Thr) rs2130207705
NM_001001557.4(GDF6):c.623C>T (p.Pro208Leu) rs903826881
NM_001001557.4(GDF6):c.625C>T (p.Pro209Ser)
NM_001001557.4(GDF6):c.631G>A (p.Gly211Ser) rs552234954
NM_001001557.4(GDF6):c.631G>C (p.Gly211Arg)
NM_001001557.4(GDF6):c.643T>C (p.Phe215Leu) rs2130207617
NM_001001557.4(GDF6):c.682C>T (p.Gln228Ter)
NM_001001557.4(GDF6):c.684G>C (p.Gln228His) rs1006833447
NM_001001557.4(GDF6):c.706G>T (p.Ala236Ser) rs933957352
NM_001001557.4(GDF6):c.707C>T (p.Ala236Val) rs781041300
NM_001001557.4(GDF6):c.715G>A (p.Glu239Lys)
NM_001001557.4(GDF6):c.719T>C (p.Leu240Pro)
NM_001001557.4(GDF6):c.724G>C (p.Ala242Pro)
NM_001001557.4(GDF6):c.725C>T (p.Ala242Val)
NM_001001557.4(GDF6):c.732G>C (p.Glu244Asp)
NM_001001557.4(GDF6):c.733G>A (p.Ala245Thr)
NM_001001557.4(GDF6):c.740C>A (p.Ala247Glu) rs1228278989
NM_001001557.4(GDF6):c.741_742delinsAA (p.Arg248Ser) rs2130207135
NM_001001557.4(GDF6):c.742C>T (p.Arg248Cys) rs750809706
NM_001001557.4(GDF6):c.749G>C (p.Arg250Pro)
NM_001001557.4(GDF6):c.755C>G (p.Pro252Arg)
NM_001001557.4(GDF6):c.758A>G (p.Gln253Arg) rs121909355
NM_001001557.4(GDF6):c.758A>T (p.Gln253Leu) rs121909355
NM_001001557.4(GDF6):c.764C>A (p.Pro255Gln)
NM_001001557.4(GDF6):c.767C>T (p.Pro256Leu)
NM_001001557.4(GDF6):c.769C>T (p.Pro257Ser)
NM_001001557.4(GDF6):c.76G>C (p.Ala26Pro)
NM_001001557.4(GDF6):c.773C>G (p.Pro258Arg)
NM_001001557.4(GDF6):c.808C>T (p.Arg270Trp) rs866273025
NM_001001557.4(GDF6):c.818A>G (p.Gln273Arg)
NM_001001557.4(GDF6):c.827C>G (p.Ala276Gly)
NM_001001557.4(GDF6):c.83T>C (p.Ile28Thr) rs2130238399
NM_001001557.4(GDF6):c.845C>G (p.Thr282Ser)
NM_001001557.4(GDF6):c.854A>T (p.Gln285Leu) rs757715384
NM_001001557.4(GDF6):c.855G>C (p.Gln285His)
NM_001001557.4(GDF6):c.856C>T (p.Arg286Cys) rs1303995573
NM_001001557.4(GDF6):c.870C>A (p.Phe290Leu) rs765928590
NM_001001557.4(GDF6):c.880C>G (p.Arg294Gly)
NM_001001557.4(GDF6):c.881G>A (p.Arg294His) rs2130206472
NM_001001557.4(GDF6):c.883G>A (p.Glu295Lys) rs1451309614
NM_001001557.4(GDF6):c.914C>A (p.Pro305Gln)
NM_001001557.4(GDF6):c.920C>T (p.Ala307Val)
NM_001001557.4(GDF6):c.931G>A (p.Gly311Arg) rs1812447441
NM_001001557.4(GDF6):c.932G>A (p.Gly311Glu)
NM_001001557.4(GDF6):c.946C>A (p.Pro316Thr)
NM_001001557.4(GDF6):c.950C>G (p.Ser317Trp)
NM_001001557.4(GDF6):c.950C>T (p.Ser317Leu)
NM_001001557.4(GDF6):c.958C>G (p.Pro320Ala)
NM_001001557.4(GDF6):c.962A>G (p.Asp321Gly) rs376698111
NM_001001557.4(GDF6):c.995G>A (p.Arg332Gln)
NM_001001557.4(GDF6):c.996GCG[4] (p.Arg335dup) rs762461479
NM_001164688.2(RD3):c.111G>A (p.Met37Ile)
NM_001164688.2(RD3):c.113G>A (p.Arg38Gln)
NM_001164688.2(RD3):c.119C>T (p.Ala40Val)
NM_001164688.2(RD3):c.11T>C (p.Ile4Thr)
NM_001164688.2(RD3):c.148G>A (p.Ala50Thr) rs745483958
NM_001164688.2(RD3):c.149C>A (p.Ala50Glu) rs140156866
NM_001164688.2(RD3):c.149C>T (p.Ala50Val)
NM_001164688.2(RD3):c.169G>T (p.Gly57Cys) rs750239049
NM_001164688.2(RD3):c.1A>G (p.Met1Val)
NM_001164688.2(RD3):c.206C>T (p.Ser69Phe) rs2102367767
NM_001164688.2(RD3):c.233G>C (p.Arg78Pro)
NM_001164688.2(RD3):c.256G>A (p.Val86Ile)
NM_001164688.2(RD3):c.284C>T (p.Pro95Leu) rs1157836749
NM_001164688.2(RD3):c.296G>A (p.Arg99Lys)
NM_001164688.2(RD3):c.348G>T (p.Gln116His) rs1044780517
NM_001164688.2(RD3):c.355C>T (p.Arg119Cys) rs756475390
NM_001164688.2(RD3):c.360G>A (p.Ser120=)
NM_001164688.2(RD3):c.365T>G (p.Leu122Arg) rs2102366503
NM_001164688.2(RD3):c.386T>A (p.Met129Lys) rs1401610655
NM_001164688.2(RD3):c.431T>A (p.Leu144Gln)
NM_001164688.2(RD3):c.466_467delinsTT (p.Arg156Phe)
NM_001164688.2(RD3):c.473G>T (p.Arg158Leu) rs748059354
NM_001164688.2(RD3):c.481C>T (p.Pro161Ser)
NM_001164688.2(RD3):c.511G>C (p.Glu171Gln)
NM_001164688.2(RD3):c.53C>T (p.Thr18Ile)
NM_001164688.2(RD3):c.545G>T (p.Arg182Leu) rs747890482
NM_001164688.2(RD3):c.559C>G (p.Pro187Ala) rs1051185578
NM_001164688.2(RD3):c.55A>T (p.Arg19Trp) rs1705256764
NM_001164688.2(RD3):c.577A>G (p.Lys193Glu) rs1374882349
NM_001164688.2(RD3):c.61C>G (p.Pro21Ala) rs151172389
NM_001164688.2(RD3):c.61C>T (p.Pro21Ser) rs151172389
NM_001164688.2(RD3):c.83C>A (p.Thr28Lys)
NM_014336.5(AIPL1):c.1004C>T (p.Pro335Leu)
NM_014336.5(AIPL1):c.1005del (p.Ala336fs) rs1356057652
NM_014336.5(AIPL1):c.1006_1017del (p.Ala336_Pro339del)
NM_014336.5(AIPL1):c.1024C>T (p.Pro342Ser)
NM_014336.5(AIPL1):c.1030G>C (p.Ala344Pro) rs757121467
NM_014336.5(AIPL1):c.1030G>T (p.Ala344Ser) rs757121467
NM_014336.5(AIPL1):c.1036T>C (p.Ser346Pro) rs753854367
NM_014336.5(AIPL1):c.1081G>A (p.Glu361Lys) rs1278686032
NM_014336.5(AIPL1):c.1081G>C (p.Glu361Gln)
NM_014336.5(AIPL1):c.1090G>A (p.Ala364Thr)
NM_014336.5(AIPL1):c.1090G>T (p.Ala364Ser) rs201875142
NM_014336.5(AIPL1):c.1095G>T (p.Gly365=) rs1911829075
NM_014336.5(AIPL1):c.1096C>A (p.Pro366Thr) rs1351212825
NM_014336.5(AIPL1):c.1099C>T (p.Pro367Ser) rs1423538169
NM_014336.5(AIPL1):c.1100C>T (p.Pro367Leu) rs1911827159
NM_014336.5(AIPL1):c.1111_1122dup (p.Ala371_Pro374dup) rs760000705
NM_014336.5(AIPL1):c.1123C>A (p.Pro375Thr)
NM_014336.5(AIPL1):c.1129T>A (p.Ser377Thr)
NM_014336.5(AIPL1):c.1132C>T (p.Pro378Ser)
NM_014336.5(AIPL1):c.1135G>C (p.Gly379Arg)
NM_014336.5(AIPL1):c.1136G>C (p.Gly379Ala) rs1911819341
NM_014336.5(AIPL1):c.1145T>A (p.Leu382Gln) rs751647463
NM_014336.5(AIPL1):c.1147C>T (p.Gln383Ter)
NM_014336.5(AIPL1):c.119T>A (p.Met40Lys) rs1912918119
NM_014336.5(AIPL1):c.119T>C (p.Met40Thr)
NM_014336.5(AIPL1):c.136C>T (p.Arg46Trp)
NM_014336.5(AIPL1):c.137G>A (p.Arg46Gln) rs755639765
NM_014336.5(AIPL1):c.137G>C (p.Arg46Pro) rs755639765
NM_014336.5(AIPL1):c.140C>T (p.Thr47Ile) rs150656720
NM_014336.5(AIPL1):c.146T>C (p.Ile49Thr) rs1172466966
NM_014336.5(AIPL1):c.172C>A (p.Pro58Thr) rs1442681009
NM_014336.5(AIPL1):c.176T>C (p.Met59Thr) rs545384558
NM_014336.5(AIPL1):c.178_179delinsAC (p.His60Thr)
NM_014336.5(AIPL1):c.197T>C (p.Met66Thr)
NM_014336.5(AIPL1):c.20T>G (p.Leu7Arg)
NM_014336.5(AIPL1):c.212T>G (p.Val71Gly) rs2150692149
NM_014336.5(AIPL1):c.23A>G (p.Asn8Ser)
NM_014336.5(AIPL1):c.241G>A (p.Val81Met)
NM_014336.5(AIPL1):c.246C>A (p.His82Gln)
NM_014336.5(AIPL1):c.246C>G (p.His82Gln) rs758868216
NM_014336.5(AIPL1):c.254C>A (p.Ala85Asp) rs1912891330
NM_014336.5(AIPL1):c.256G>A (p.Glu86Lys)
NM_014336.5(AIPL1):c.268G>A (p.Asp90Asn)
NM_014336.5(AIPL1):c.274A>G (p.Ile92Val) rs2150691847
NM_014336.5(AIPL1):c.286G>T (p.Val96Phe) rs62619924
NM_014336.5(AIPL1):c.297C>G (p.Ile99Met)
NM_014336.5(AIPL1):c.304C>G (p.Arg102Gly) rs151204387
NM_014336.5(AIPL1):c.314G>A (p.Arg105Lys) rs1912230857
NM_014336.5(AIPL1):c.351C>G (p.His117Gln) rs370312709
NM_014336.5(AIPL1):c.356A>G (p.His119Arg) rs1912223301
NM_014336.5(AIPL1):c.381C>A (p.Phe127Leu)
NM_014336.5(AIPL1):c.406G>A (p.Asp136Asn)
NM_014336.5(AIPL1):c.412G>C (p.Asp138His) rs1912211534
NM_014336.5(AIPL1):c.465+4G>A
NM_014336.5(AIPL1):c.476C>G (p.Pro159Arg)
NM_014336.5(AIPL1):c.519G>C (p.Glu173Asp)
NM_014336.5(AIPL1):c.547G>A (p.Gly183Arg) rs374255033
NM_014336.5(AIPL1):c.55G>C (p.Gly19Arg)
NM_014336.5(AIPL1):c.577C>T (p.Arg193Cys) rs765435117
NM_014336.5(AIPL1):c.586G>A (p.Glu196Lys) rs2150677659
NM_014336.5(AIPL1):c.593C>T (p.Ser198Phe) rs2150677613
NM_014336.5(AIPL1):c.59G>A (p.Gly20Asp) rs1036750099
NM_014336.5(AIPL1):c.636G>C (p.Gln212His)
NM_014336.5(AIPL1):c.642+20G>A
NM_014336.5(AIPL1):c.642+3C>T
NM_014336.5(AIPL1):c.67G>A (p.Glu23Lys)
NM_014336.5(AIPL1):c.714G>C (p.Gln238His)
NM_014336.5(AIPL1):c.724AAG[1] (p.Lys243del) rs765411357
NM_014336.5(AIPL1):c.725A>C (p.Lys242Thr) rs1912002011
NM_014336.5(AIPL1):c.730G>C (p.Glu244Gln) rs776498118
NM_014336.5(AIPL1):c.73C>A (p.Pro25Thr) rs886053268
NM_014336.5(AIPL1):c.746T>C (p.Val249Ala) rs760491360
NM_014336.5(AIPL1):c.761G>A (p.Ser254Asn) rs1911992920
NM_014336.5(AIPL1):c.763G>T (p.Asp255Tyr) rs997988313
NM_014336.5(AIPL1):c.772C>T (p.Arg258Trp)
NM_014336.5(AIPL1):c.785-1_787del rs1392534956
NM_014336.5(AIPL1):c.797C>T (p.Ala266Val)
NM_014336.5(AIPL1):c.805G>T (p.Val269Leu)
NM_014336.5(AIPL1):c.817G>T (p.Ala273Ser) rs1911886614
NM_014336.5(AIPL1):c.868G>C (p.Val290Leu)
NM_014336.5(AIPL1):c.884C>G (p.Pro295Arg) rs1911872542
NM_014336.5(AIPL1):c.884C>T (p.Pro295Leu)
NM_014336.5(AIPL1):c.917G>A (p.Arg306Lys)
NM_014336.5(AIPL1):c.917G>C (p.Arg306Thr)
NM_014336.5(AIPL1):c.920T>C (p.Leu307Pro) rs1458797810
NM_014336.5(AIPL1):c.92C>A (p.Ser31Tyr) rs1458100796
NM_014336.5(AIPL1):c.932G>A (p.Arg311His) rs1342076335
NM_014336.5(AIPL1):c.934A>C (p.Met312Leu) rs2150674520
NM_014336.5(AIPL1):c.937G>A (p.Ala313Thr)
NM_014336.5(AIPL1):c.958C>T (p.Arg320Trp) rs1445697118
NM_014336.5(AIPL1):c.95G>A (p.Arg32Gln)
NM_014336.5(AIPL1):c.95G>C (p.Arg32Pro) rs1377279163
NM_014336.5(AIPL1):c.965G>C (p.Arg322Pro) rs537788083
NM_014336.5(AIPL1):c.97-10C>G rs758429483
NM_014336.5(AIPL1):c.97G>C (p.Val33Leu) rs1201292222
NM_014336.5(AIPL1):c.983G>C (p.Ser328Thr) rs1361890271
NM_014336.5(AIPL1):c.98T>G (p.Val33Gly) rs16955859
NM_014336.5(AIPL1):c.995C>T (p.Thr332Met) rs770159814
NM_018418.5(SPATA7):c.1006G>T (p.Ala336Ser) rs765393196
NM_018418.5(SPATA7):c.1057C>G (p.Pro353Ala)
NM_018418.5(SPATA7):c.1057C>T (p.Pro353Ser)
NM_018418.5(SPATA7):c.1069A>G (p.Lys357Glu) rs1468094515
NM_018418.5(SPATA7):c.1076A>T (p.Tyr359Phe) rs2076931978
NM_018418.5(SPATA7):c.1078T>A (p.Ser360Thr) rs2140009451
NM_018418.5(SPATA7):c.1082+3A>G rs2140009484
NM_018418.5(SPATA7):c.1082+6A>C
NM_018418.5(SPATA7):c.10A>C (p.Ser4Arg) rs2139846013
NM_018418.5(SPATA7):c.1127A>G (p.Asp376Gly) rs2076985537
NM_018418.5(SPATA7):c.1144G>T (p.Gly382Cys) rs776604824
NM_018418.5(SPATA7):c.1160+5G>T
NM_018418.5(SPATA7):c.1175T>C (p.Leu392Pro) rs2077122465
NM_018418.5(SPATA7):c.1197A>C (p.Gln399His)
NM_018418.5(SPATA7):c.1204C>T (p.His402Tyr) rs2077124089
NM_018418.5(SPATA7):c.1215+3T>A
NM_018418.5(SPATA7):c.1226G>A (p.Arg409His)
NM_018418.5(SPATA7):c.123A>T (p.Arg41Ser)
NM_018418.5(SPATA7):c.1252G>A (p.Asp418Asn)
NM_018418.5(SPATA7):c.1252G>C (p.Asp418His) rs776178227
NM_018418.5(SPATA7):c.1259G>A (p.Gly420Asp) rs1351069069
NM_018418.5(SPATA7):c.1327A>G (p.Lys443Glu)
NM_018418.5(SPATA7):c.1330G>A (p.Ala444Thr)
NM_018418.5(SPATA7):c.1360A>G (p.Asn454Asp)
NM_018418.5(SPATA7):c.1453T>C (p.Phe485Leu) rs1566790849
NM_018418.5(SPATA7):c.1468G>A (p.Glu490Lys)
NM_018418.5(SPATA7):c.146A>G (p.Lys49Arg)
NM_018418.5(SPATA7):c.1477A>G (p.Met493Val) rs1229447697
NM_018418.5(SPATA7):c.1485T>G (p.Ile495Met)
NM_018418.5(SPATA7):c.1555A>G (p.Thr519Ala)
NM_018418.5(SPATA7):c.1562A>G (p.Asp521Gly) rs773460135
NM_018418.5(SPATA7):c.157G>A (p.Ala53Thr) rs2139872972
NM_018418.5(SPATA7):c.1598A>G (p.Asp533Gly) rs2140031261
NM_018418.5(SPATA7):c.1621A>G (p.Ile541Val)
NM_018418.5(SPATA7):c.1622T>A (p.Ile541Asn)
NM_018418.5(SPATA7):c.1627G>A (p.Gly543Ser)
NM_018418.5(SPATA7):c.1630G>C (p.Asp544His) rs779875860
NM_018418.5(SPATA7):c.163C>T (p.His55Tyr) rs764520590
NM_018418.5(SPATA7):c.1648del (p.Val550fs)
NM_018418.5(SPATA7):c.1666T>G (p.Leu556Val)
NM_018418.5(SPATA7):c.1689del (p.Ser564fs) rs2077149352
NM_018418.5(SPATA7):c.1715T>A (p.Val572Asp)
NM_018418.5(SPATA7):c.1719A>T (p.Lys573Asn)
NM_018418.5(SPATA7):c.1723G>T (p.Asp575Tyr) rs551066420
NM_018418.5(SPATA7):c.1730A>G (p.Asn577Ser)
NM_018418.5(SPATA7):c.1750A>G (p.Thr584Ala) rs752698812
NM_018418.5(SPATA7):c.1775T>C (p.Ile592Thr) rs2140031893
NM_018418.5(SPATA7):c.19G>C (p.Val7Leu) rs371609982
NM_018418.5(SPATA7):c.227C>G (p.Thr76Ser)
NM_018418.5(SPATA7):c.238+2dup rs2075874938
NM_018418.5(SPATA7):c.253C>G (p.Arg85Gly) rs140287375
NM_018418.5(SPATA7):c.256A>G (p.Arg86Gly) rs2139961527
NM_018418.5(SPATA7):c.265C>T (p.Leu89Phe)
NM_018418.5(SPATA7):c.296A>T (p.Glu99Val) rs2076489402
NM_018418.5(SPATA7):c.310A>G (p.Lys104Glu) rs200034171
NM_018418.5(SPATA7):c.311A>G (p.Lys104Arg) rs2076490012
NM_018418.5(SPATA7):c.314C>A (p.Thr105Asn) rs769850431
NM_018418.5(SPATA7):c.325G>A (p.Ala109Thr) rs766157792
NM_018418.5(SPATA7):c.34G>A (p.Val12Ile) rs2139866031
NM_018418.5(SPATA7):c.361A>G (p.Thr121Ala)
NM_018418.5(SPATA7):c.371A>G (p.Lys124Arg)
NM_018418.5(SPATA7):c.3G>A (p.Met1Ile) rs200244203
NM_018418.5(SPATA7):c.400G>A (p.Asp134Asn)
NM_018418.5(SPATA7):c.401A>G (p.Asp134Gly) rs2139995438
NM_018418.5(SPATA7):c.409A>G (p.Lys137Glu)
NM_018418.5(SPATA7):c.41C>G (p.Pro14Arg)
NM_018418.5(SPATA7):c.445T>A (p.Ser149Thr) rs2076790068
NM_018418.5(SPATA7):c.449T>C (p.Leu150Pro) rs2076790271
NM_018418.5(SPATA7):c.451G>A (p.Val151Ile)
NM_018418.5(SPATA7):c.470T>C (p.Leu157Pro) rs1053255812
NM_018418.5(SPATA7):c.47A>G (p.Tyr16Cys)
NM_018418.5(SPATA7):c.4G>C (p.Asp2His)
NM_018418.5(SPATA7):c.556G>A (p.Ala186Thr) rs2139996019
NM_018418.5(SPATA7):c.559G>C (p.Ala187Pro) rs143636395
NM_018418.5(SPATA7):c.55C>G (p.Pro19Ala) rs2075741859
NM_018418.5(SPATA7):c.565G>C (p.Gly189Arg) rs905542502
NM_018418.5(SPATA7):c.568C>T (p.Pro190Ser)
NM_018418.5(SPATA7):c.635G>A (p.Arg212Gln) rs772488728
NM_018418.5(SPATA7):c.661C>T (p.Pro221Ser)
NM_018418.5(SPATA7):c.665G>C (p.Ser222Thr) rs781595295
NM_018418.5(SPATA7):c.670G>T (p.Asp224Tyr)
NM_018418.5(SPATA7):c.745G>A (p.Ala249Thr) rs946409225
NM_018418.5(SPATA7):c.754T>C (p.Phe252Leu) rs2076800643
NM_018418.5(SPATA7):c.756C>G (p.Phe252Leu)
NM_018418.5(SPATA7):c.75C>G (p.His25Gln) rs765968462
NM_018418.5(SPATA7):c.770G>A (p.Arg257His) rs533185075
NM_018418.5(SPATA7):c.770G>C (p.Arg257Pro) rs533185075
NM_018418.5(SPATA7):c.773A>G (p.Tyr258Cys) rs546453565
NM_018418.5(SPATA7):c.788A>G (p.Lys263Arg)
NM_018418.5(SPATA7):c.789A>C (p.Lys263Asn) rs2139996952
NM_018418.5(SPATA7):c.794A>G (p.Lys265Arg)
NM_018418.5(SPATA7):c.808G>T (p.Asp270Tyr) rs923955933
NM_018418.5(SPATA7):c.82A>G (p.Thr28Ala)
NM_018418.5(SPATA7):c.836C>T (p.Thr279Ile)
NM_018418.5(SPATA7):c.854C>A (p.Ser285Tyr) rs2076832785
NM_018418.5(SPATA7):c.891_896del (p.Asp297_Ser298del) rs2076833726
NM_018418.5(SPATA7):c.899T>A (p.Met300Lys) rs1181075236
NM_018418.5(SPATA7):c.89G>A (p.Ser30Asn)
NM_018418.5(SPATA7):c.904A>G (p.Ile302Val) rs774986202
NM_018418.5(SPATA7):c.908A>C (p.Lys303Thr)
NM_018418.5(SPATA7):c.91A>G (p.Asn31Asp)
NM_018418.5(SPATA7):c.935A>G (p.Asp312Gly)
NM_018418.5(SPATA7):c.94+5G>T
NM_018418.5(SPATA7):c.94+6T>G
NM_018418.5(SPATA7):c.940A>G (p.Lys314Glu)
NM_018418.5(SPATA7):c.978_980del (p.Asp326_Ser327delinsGlu) rs2140004363
NM_020366.4(RPGRIP1):c.1011C>G (p.Ser337Arg) rs2139175426
NM_020366.4(RPGRIP1):c.1013A>G (p.Lys338Arg)
NM_020366.4(RPGRIP1):c.1077+3A>G
NM_020366.4(RPGRIP1):c.107C>A (p.Pro36Gln) rs189509077
NM_020366.4(RPGRIP1):c.1084G>A (p.Glu362Lys)
NM_020366.4(RPGRIP1):c.10C>A (p.Leu4Met) rs1462796890
NM_020366.4(RPGRIP1):c.1118T>C (p.Leu373Ser)
NM_020366.4(RPGRIP1):c.1165A>T (p.Ser389Cys)
NM_020366.4(RPGRIP1):c.1197C>A (p.Asn399Lys)
NM_020366.4(RPGRIP1):c.1208C>T (p.Ala403Val) rs779216995
NM_020366.4(RPGRIP1):c.1226A>G (p.Gln409Arg)
NM_020366.4(RPGRIP1):c.1268A>G (p.Asp423Gly)
NM_020366.4(RPGRIP1):c.127C>G (p.Arg43Gly) rs751975588
NM_020366.4(RPGRIP1):c.127C>T (p.Arg43Trp) rs751975588
NM_020366.4(RPGRIP1):c.1285C>G (p.Leu429Val) rs2139188464
NM_020366.4(RPGRIP1):c.1286T>G (p.Leu429Arg) rs1052124836
NM_020366.4(RPGRIP1):c.1320T>G (p.Asp440Glu) rs1882224897
NM_020366.4(RPGRIP1):c.1352A>C (p.Lys451Thr) rs1882228306
NM_020366.4(RPGRIP1):c.1378C>A (p.Gln460Lys) rs1385302435
NM_020366.4(RPGRIP1):c.137T>C (p.Leu46Ser)
NM_020366.4(RPGRIP1):c.138GGA[1] (p.Glu47del)
NM_020366.4(RPGRIP1):c.140A>G (p.Glu47Gly) rs2139144675
NM_020366.4(RPGRIP1):c.1418C>G (p.Ser473Cys) rs1882237224
NM_020366.4(RPGRIP1):c.1430C>A (p.Thr477Asn) rs2139200427
NM_020366.4(RPGRIP1):c.1447C>A (p.Gln483Lys) rs368781265
NM_020366.4(RPGRIP1):c.1451A>G (p.Glu484Gly) rs2139200567
NM_020366.4(RPGRIP1):c.1456A>G (p.Thr486Ala)
NM_020366.4(RPGRIP1):c.1457C>T (p.Thr486Ile) rs1882245032
NM_020366.4(RPGRIP1):c.1464C>G (p.Ile488Met)
NM_020366.4(RPGRIP1):c.1472G>C (p.Ser491Thr)
NM_020366.4(RPGRIP1):c.1537G>A (p.Ala513Thr) rs763392584
NM_020366.4(RPGRIP1):c.1537G>T (p.Ala513Ser) rs763392584
NM_020366.4(RPGRIP1):c.155G>A (p.Arg52Gln) rs374171080
NM_020366.4(RPGRIP1):c.1563G>C (p.Lys521Asn)
NM_020366.4(RPGRIP1):c.1573A>G (p.Met525Val)
NM_020366.4(RPGRIP1):c.1592A>G (p.Lys531Arg) rs2139208888
NM_020366.4(RPGRIP1):c.1600G>C (p.Val534Leu)
NM_020366.4(RPGRIP1):c.1612G>A (p.Glu538Lys)
NM_020366.4(RPGRIP1):c.1615_1616delinsAG (p.Glu539Arg) rs2139211228
NM_020366.4(RPGRIP1):c.1631T>A (p.Met544Lys) rs748892211
NM_020366.4(RPGRIP1):c.1711C>G (p.Arg571Gly)
NM_020366.4(RPGRIP1):c.172A>G (p.Met58Val)
NM_020366.4(RPGRIP1):c.173T>C (p.Met58Thr) rs1413728875
NM_020366.4(RPGRIP1):c.1741A>G (p.Ser581Gly)
NM_020366.4(RPGRIP1):c.1757C>G (p.Thr586Arg) rs1387707646
NM_020366.4(RPGRIP1):c.1802C>G (p.Ser601Trp) rs3748360
NM_020366.4(RPGRIP1):c.1802C>T (p.Ser601Leu) rs3748360
NM_020366.4(RPGRIP1):c.1802_1804del (p.Ser601del) rs781272475
NM_020366.4(RPGRIP1):c.181A>G (p.Lys61Glu)
NM_020366.4(RPGRIP1):c.1820T>A (p.Leu607Gln) rs576270075
NM_020366.4(RPGRIP1):c.182A>G (p.Lys61Arg) rs1192734148
NM_020366.4(RPGRIP1):c.184G>A (p.Glu62Lys) rs976713441
NM_020366.4(RPGRIP1):c.1870G>C (p.Gly624Arg) rs2139227241
NM_020366.4(RPGRIP1):c.1875G>T (p.Glu625Asp)
NM_020366.4(RPGRIP1):c.1876A>T (p.Asn626Tyr) rs1882869988
NM_020366.4(RPGRIP1):c.1877A>G (p.Asn626Ser) rs1247485541
NM_020366.4(RPGRIP1):c.1901A>G (p.Gln634Arg) rs1882874181
NM_020366.4(RPGRIP1):c.1903G>A (p.Ala635Thr)
NM_020366.4(RPGRIP1):c.1904C>A (p.Ala635Asp)
NM_020366.4(RPGRIP1):c.1919C>T (p.Ala640Val)
NM_020366.4(RPGRIP1):c.1945C>A (p.Gln649Lys) rs747575530
NM_020366.4(RPGRIP1):c.1949C>G (p.Pro650Arg) rs769167245
NM_020366.4(RPGRIP1):c.1954A>G (p.Thr652Ala)
NM_020366.4(RPGRIP1):c.1970C>T (p.Ser657Phe)
NM_020366.4(RPGRIP1):c.1976A>C (p.Tyr659Ser) rs1278572461
NM_020366.4(RPGRIP1):c.2036C>T (p.Thr679Ile) rs2139228509
NM_020366.4(RPGRIP1):c.203A>G (p.Gln68Arg) rs1880693286
NM_020366.4(RPGRIP1):c.2047G>A (p.Val683Met)
NM_020366.4(RPGRIP1):c.2048T>C (p.Val683Ala)
NM_020366.4(RPGRIP1):c.2054A>G (p.Glu685Gly)
NM_020366.4(RPGRIP1):c.2059G>C (p.Asp687His) rs780193224
NM_020366.4(RPGRIP1):c.2084A>G (p.Gln695Arg)
NM_020366.4(RPGRIP1):c.2087A>C (p.Glu696Ala)
NM_020366.4(RPGRIP1):c.2098C>G (p.Arg700Gly)
NM_020366.4(RPGRIP1):c.2098C>T (p.Arg700Trp) rs775239691
NM_020366.4(RPGRIP1):c.2159G>A (p.Cys720Tyr) rs1882916452
NM_020366.4(RPGRIP1):c.2213T>C (p.Ile738Thr)
NM_020366.4(RPGRIP1):c.2216-15C>G
NM_020366.4(RPGRIP1):c.2224G>A (p.Gly742Arg)
NM_020366.4(RPGRIP1):c.2263C>T (p.Arg755Cys)
NM_020366.4(RPGRIP1):c.2264G>A (p.Arg755His)
NM_020366.4(RPGRIP1):c.2300A>C (p.Lys767Thr) rs1594214205
NM_020366.4(RPGRIP1):c.2308A>C (p.Lys770Gln) rs745694912
NM_020366.4(RPGRIP1):c.2317G>T (p.Val773Phe)
NM_020366.4(RPGRIP1):c.2330C>G (p.Thr777Ser) rs1483742101
NM_020366.4(RPGRIP1):c.2332G>A (p.Asp778Asn)
NM_020366.4(RPGRIP1):c.2348G>A (p.Arg783Gln)
NM_020366.4(RPGRIP1):c.2362G>A (p.Glu788Lys) rs2139232422
NM_020366.4(RPGRIP1):c.2367G>A (p.Glu789=)
NM_020366.4(RPGRIP1):c.2388A>T (p.Glu796Asp)
NM_020366.4(RPGRIP1):c.238C>G (p.Arg80Gly)
NM_020366.4(RPGRIP1):c.2392C>G (p.Gln798Glu) rs1883030065
NM_020366.4(RPGRIP1):c.2398G>C (p.Glu800Gln)
NM_020366.4(RPGRIP1):c.2410G>A (p.Glu804Lys)
NM_020366.4(RPGRIP1):c.2417C>G (p.Thr806Ser)
NM_020366.4(RPGRIP1):c.2425T>C (p.Cys809Arg)
NM_020366.4(RPGRIP1):c.2434C>T (p.Arg812Trp)
NM_020366.4(RPGRIP1):c.2441G>A (p.Arg814Gln)
NM_020366.4(RPGRIP1):c.2446C>A (p.Leu816Met) rs761438226
NM_020366.4(RPGRIP1):c.245C>T (p.Thr82Ile)
NM_020366.4(RPGRIP1):c.2468A>G (p.Tyr823Cys) rs751521888
NM_020366.4(RPGRIP1):c.2504A>G (p.Asp835Gly) rs749361825
NM_020366.4(RPGRIP1):c.2507C>A (p.Thr836Asn) rs771018578
NM_020366.4(RPGRIP1):c.2515A>G (p.Ile839Val) rs1231166099
NM_020366.4(RPGRIP1):c.2551G>A (p.Ala851Thr)
NM_020366.4(RPGRIP1):c.2573C>T (p.Thr858Ile)
NM_020366.4(RPGRIP1):c.2591A>T (p.Tyr864Phe)
NM_020366.4(RPGRIP1):c.2594T>C (p.Leu865Pro) rs1883066106
NM_020366.4(RPGRIP1):c.2611T>C (p.Ser871Pro)
NM_020366.4(RPGRIP1):c.2617C>G (p.His873Asp)
NM_020366.4(RPGRIP1):c.266G>A (p.Arg89Gln)
NM_020366.4(RPGRIP1):c.2684C>A (p.Pro895His) rs2139237508
NM_020366.4(RPGRIP1):c.268G>A (p.Val90Ile) rs1057519200
NM_020366.4(RPGRIP1):c.2692A>G (p.Lys898Glu) rs1182119707
NM_020366.4(RPGRIP1):c.2710G>A (p.Gly904Ser) rs918924266
NM_020366.4(RPGRIP1):c.2711-3C>T
NM_020366.4(RPGRIP1):c.2721C>A (p.Asn907Lys)
NM_020366.4(RPGRIP1):c.2738A>G (p.Glu913Gly)
NM_020366.4(RPGRIP1):c.2776A>G (p.Lys926Glu) rs1883253921
NM_020366.4(RPGRIP1):c.277G>C (p.Glu93Gln)
NM_020366.4(RPGRIP1):c.2794C>A (p.Pro932Thr)
NM_020366.4(RPGRIP1):c.2801G>C (p.Ser934Thr)
NM_020366.4(RPGRIP1):c.2818G>C (p.Ala940Pro) rs376805437
NM_020366.4(RPGRIP1):c.2821C>G (p.Gln941Glu) rs2139246200
NM_020366.4(RPGRIP1):c.2827A>G (p.Lys943Glu) rs2139246249
NM_020366.4(RPGRIP1):c.2878G>A (p.Ala960Thr) rs35810926
NM_020366.4(RPGRIP1):c.2895G>C (p.Gln965His)
NM_020366.4(RPGRIP1):c.2917G>A (p.Val973Ile)
NM_020366.4(RPGRIP1):c.2923A>G (p.Ile975Val) rs2139250653
NM_020366.4(RPGRIP1):c.2930C>T (p.Ala977Val) rs1883345867
NM_020366.4(RPGRIP1):c.2932G>C (p.Gly978Arg)
NM_020366.4(RPGRIP1):c.2933G>A (p.Gly978Asp)
NM_020366.4(RPGRIP1):c.293C>T (p.Ser98Leu) rs1337129272
NM_020366.4(RPGRIP1):c.2948A>T (p.Lys983Met)
NM_020366.4(RPGRIP1):c.2960C>T (p.Pro987Leu) rs2139250992
NM_020366.4(RPGRIP1):c.2963A>G (p.His988Arg)
NM_020366.4(RPGRIP1):c.2963A>T (p.His988Leu)
NM_020366.4(RPGRIP1):c.2965G>T (p.Gly989Trp) rs774678526
NM_020366.4(RPGRIP1):c.2966G>T (p.Gly989Val) rs1349740244
NM_020366.4(RPGRIP1):c.2969G>A (p.Gly990Glu)
NM_020366.4(RPGRIP1):c.2993A>G (p.Gln998Arg) rs1883354997
NM_020366.4(RPGRIP1):c.29G>A (p.Gly10Glu) rs756665749
NM_020366.4(RPGRIP1):c.3029G>T (p.Arg1010Ile) rs969637624
NM_020366.4(RPGRIP1):c.3044G>A (p.Gly1015Glu)
NM_020366.4(RPGRIP1):c.3085G>A (p.Gly1029Arg)
NM_020366.4(RPGRIP1):c.3099+2dup rs1883370936
NM_020366.4(RPGRIP1):c.3100-3A>G rs2139263237
NM_020366.4(RPGRIP1):c.3107A>C (p.Asn1036Thr) rs2139263302
NM_020366.4(RPGRIP1):c.3140_3141delinsTT (p.Ser1047Ile) rs1883601117
NM_020366.4(RPGRIP1):c.3151G>C (p.Asp1051His) rs1883602777
NM_020366.4(RPGRIP1):c.3152A>C (p.Asp1051Ala) rs775193329
NM_020366.4(RPGRIP1):c.320C>A (p.Ala107Glu)
NM_020366.4(RPGRIP1):c.320_322del (p.Ala107del) rs1424476051
NM_020366.4(RPGRIP1):c.322G>A (p.Gly108Arg)
NM_020366.4(RPGRIP1):c.3230C>T (p.Pro1077Leu) rs2139264096
NM_020366.4(RPGRIP1):c.3238+5T>A rs1375504755
NM_020366.4(RPGRIP1):c.3238+5T>C
NM_020366.4(RPGRIP1):c.3248C>G (p.Ser1083Cys) rs751421999
NM_020366.4(RPGRIP1):c.3248C>T (p.Ser1083Phe) rs751421999
NM_020366.4(RPGRIP1):c.3251C>T (p.Ser1084Phe) rs576011830
NM_020366.4(RPGRIP1):c.3257A>C (p.Gln1086Pro) rs1210425656
NM_020366.4(RPGRIP1):c.3271A>C (p.Ser1091Arg) rs749295693
NM_020366.4(RPGRIP1):c.3293G>A (p.Ser1098Asn) rs2139288372
NM_020366.4(RPGRIP1):c.3308T>C (p.Val1103Ala)
NM_020366.4(RPGRIP1):c.3317T>C (p.Met1106Thr) rs769264626
NM_020366.4(RPGRIP1):c.3340-3C>G
NM_020366.4(RPGRIP1):c.3353T>C (p.Met1118Thr) rs1194195334
NM_020366.4(RPGRIP1):c.3358A>C (p.Ile1120Leu) rs137853911
NM_020366.4(RPGRIP1):c.335G>A (p.Arg112His) rs1566671532
NM_020366.4(RPGRIP1):c.3370T>A (p.Ser1124Thr)
NM_020366.4(RPGRIP1):c.3370T>C (p.Ser1124Pro) rs2139337000
NM_020366.4(RPGRIP1):c.340T>C (p.Ser114Pro) rs1192070874
NM_020366.4(RPGRIP1):c.3444C>G (p.Phe1148Leu) rs886050401
NM_020366.4(RPGRIP1):c.3448G>A (p.Asp1150Asn) rs144704092
NM_020366.4(RPGRIP1):c.3448G>C (p.Asp1150His)
NM_020366.4(RPGRIP1):c.3454C>A (p.Pro1152Thr)
NM_020366.4(RPGRIP1):c.3454C>T (p.Pro1152Ser) rs1388726376
NM_020366.4(RPGRIP1):c.3461C>G (p.Ser1154Trp) rs188312873
NM_020366.4(RPGRIP1):c.3461C>T (p.Ser1154Leu) rs188312873
NM_020366.4(RPGRIP1):c.3521A>C (p.His1174Pro) rs2139338042
NM_020366.4(RPGRIP1):c.3522C>G (p.His1174Gln)
NM_020366.4(RPGRIP1):c.352C>A (p.Arg118Ser)
NM_020366.4(RPGRIP1):c.3539A>G (p.Asp1180Gly) rs2139349759
NM_020366.4(RPGRIP1):c.3545A>T (p.Asp1182Val)
NM_020366.4(RPGRIP1):c.3553G>A (p.Glu1185Lys) rs766353935
NM_020366.4(RPGRIP1):c.3553G>C (p.Glu1185Gln) rs766353935
NM_020366.4(RPGRIP1):c.3570G>T (p.Arg1190Ser) rs756503753
NM_020366.4(RPGRIP1):c.3602A>G (p.Asp1201Gly) rs773540240
NM_020366.4(RPGRIP1):c.3615A>T (p.Gly1205=) rs2139350334
NM_020366.4(RPGRIP1):c.3617A>T (p.His1206Leu)
NM_020366.4(RPGRIP1):c.3649G>A (p.Asp1217Asn) rs886044548
NM_020366.4(RPGRIP1):c.3652G>A (p.Glu1218Lys)
NM_020366.4(RPGRIP1):c.3660G>T (p.Lys1220Asn)
NM_020366.4(RPGRIP1):c.3671AAG[1] (p.Glu1225del) rs1885763072
NM_020366.4(RPGRIP1):c.3683A>G (p.Tyr1228Cys)
NM_020366.4(RPGRIP1):c.3689A>G (p.Tyr1230Cys)
NM_020366.4(RPGRIP1):c.3733G>A (p.Glu1245Lys)
NM_020366.4(RPGRIP1):c.3758C>G (p.Pro1253Arg) rs1168922642
NM_020366.4(RPGRIP1):c.3778A>G (p.Ile1260Val)
NM_020366.4(RPGRIP1):c.3779T>A (p.Ile1260Lys) rs752222755
NM_020366.4(RPGRIP1):c.3786G>T (p.Arg1262Ser) rs1479887241
NM_020366.4(RPGRIP1):c.380A>G (p.His127Arg) rs2139156675
NM_020366.4(RPGRIP1):c.3823G>A (p.Ala1275Thr)
NM_020366.4(RPGRIP1):c.3835_3837del (p.Glu1279del) rs281865293
NM_020366.4(RPGRIP1):c.3842C>T (p.Thr1281Ile) rs1385915494
NM_020366.4(RPGRIP1):c.386A>G (p.His129Arg)
NM_020366.4(RPGRIP1):c.394G>T (p.Gly132Cys) rs2139156699
NM_020366.4(RPGRIP1):c.403A>G (p.Ser135Gly)
NM_020366.4(RPGRIP1):c.415G>A (p.Ala139Thr)
NM_020366.4(RPGRIP1):c.415G>C (p.Ala139Pro)
NM_020366.4(RPGRIP1):c.433G>C (p.Val145Leu) rs1881012139
NM_020366.4(RPGRIP1):c.458C>G (p.Ala153Gly) rs1881013380
NM_020366.4(RPGRIP1):c.490+3G>A rs2139156922
NM_020366.4(RPGRIP1):c.490+6A>T
NM_020366.4(RPGRIP1):c.491-3del
NM_020366.4(RPGRIP1):c.518C>A (p.Ala173Asp) rs1305296500
NM_020366.4(RPGRIP1):c.527C>T (p.Ser176Leu) rs1011857075
NM_020366.4(RPGRIP1):c.529T>C (p.Phe177Leu) rs1881077815
NM_020366.4(RPGRIP1):c.595G>T (p.Gly199Cys) rs777149627
NM_020366.4(RPGRIP1):c.620G>A (p.Ser207Asn) rs763667727
NM_020366.4(RPGRIP1):c.620G>T (p.Ser207Ile) rs763667727
NM_020366.4(RPGRIP1):c.636G>A (p.Met212Ile) rs1881122797
NM_020366.4(RPGRIP1):c.643C>T (p.Pro215Ser)
NM_020366.4(RPGRIP1):c.668G>A (p.Ser223Asn) rs2139160510
NM_020366.4(RPGRIP1):c.668G>C (p.Ser223Thr) rs2139160510
NM_020366.4(RPGRIP1):c.671C>T (p.Ala224Val)
NM_020366.4(RPGRIP1):c.687C>A (p.Ser229Arg)
NM_020366.4(RPGRIP1):c.732G>A (p.Met244Ile) rs1881127716
NM_020366.4(RPGRIP1):c.85G>A (p.Gly29Ser) rs763401090
NM_020366.4(RPGRIP1):c.870G>T (p.Leu290Phe) rs1459207230
NM_020366.4(RPGRIP1):c.874A>G (p.Met292Val) rs1881380174
NM_020366.4(RPGRIP1):c.895G>A (p.Glu299Lys) rs550626567
NM_020366.4(RPGRIP1):c.8A>G (p.His3Arg) rs2139132081
NM_020366.4(RPGRIP1):c.925C>G (p.Gln309Glu)
NM_020366.4(RPGRIP1):c.930+4C>T
NM_020366.4(RPGRIP1):c.931-3C>G
NM_020366.4(RPGRIP1):c.933T>A (p.Asn311Lys)
NM_020366.4(RPGRIP1):c.950C>T (p.Ala317Val) rs2139175328
NM_020366.4(RPGRIP1):c.956A>G (p.His319Arg) rs756920414
NM_020366.4(RPGRIP1):c.964CTC[1] (p.Leu323del)
NM_020366.4(RPGRIP1):c.967C>T (p.Leu323Phe)
NM_020366.4(RPGRIP1):c.985C>G (p.Leu329Val) rs776485302
NM_022787.4(NMNAT1):c.120G>T (p.Arg40Ser)
NM_022787.4(NMNAT1):c.128T>A (p.Val43Asp)
NM_022787.4(NMNAT1):c.163T>A (p.Tyr55Asn) rs1641789249
NM_022787.4(NMNAT1):c.167A>G (p.Lys56Arg)
NM_022787.4(NMNAT1):c.191A>G (p.Tyr64Cys)
NM_022787.4(NMNAT1):c.206T>A (p.Met69Lys) rs1238255494
NM_022787.4(NMNAT1):c.22G>A (p.Glu8Lys) rs1641702008
NM_022787.4(NMNAT1):c.253T>C (p.Trp85Arg)
NM_022787.4(NMNAT1):c.299G>A (p.Arg100Lys) rs776968950
NM_022787.4(NMNAT1):c.383A>G (p.Lys128Arg)
NM_022787.4(NMNAT1):c.387G>T (p.Trp129Cys) rs547859415
NM_022787.4(NMNAT1):c.38C>G (p.Ala13Gly)
NM_022787.4(NMNAT1):c.391G>A (p.Glu131Lys) rs1033800829
NM_022787.4(NMNAT1):c.451G>T (p.Val151Phe) rs387907292
NM_022787.4(NMNAT1):c.455A>G (p.Lys152Arg)
NM_022787.4(NMNAT1):c.491C>T (p.Ala164Val) rs1641966893
NM_022787.4(NMNAT1):c.503T>G (p.Leu168Trp) rs2101715993
NM_022787.4(NMNAT1):c.554G>A (p.Cys185Tyr) rs773858787
NM_022787.4(NMNAT1):c.563G>A (p.Arg188Gln) rs767485367
NM_022787.4(NMNAT1):c.59T>A (p.Ile20Asn)
NM_022787.4(NMNAT1):c.59T>C (p.Ile20Thr)
NM_022787.4(NMNAT1):c.610T>G (p.Trp204Gly) rs1641969880
NM_022787.4(NMNAT1):c.724G>T (p.Asp242Tyr)
NM_022787.4(NMNAT1):c.752A>C (p.His251Pro) rs1208495291
NM_022787.4(NMNAT1):c.763A>G (p.Ser255Gly) rs777097208
NM_022787.4(NMNAT1):c.793dup (p.Val265fs)
NM_022787.4(NMNAT1):c.827A>T (p.Glu276Val)
NM_022787.4(NMNAT1):c.832A>G (p.Lys278Glu)
NM_022787.4(NMNAT1):c.91G>T (p.Ala31Ser)
NM_022787.4(NMNAT1):c.94A>G (p.Lys32Glu) rs2101693191
NM_152443.3(RDH12):c.103G>C (p.Val35Leu)
NM_152443.3(RDH12):c.112C>T (p.Pro38Ser)
NM_152443.3(RDH12):c.148G>A (p.Gly50Ser) rs2140141345
NM_152443.3(RDH12):c.15_29dup (p.Ser10_Phe11insGlyLeuLeuThrSer)
NM_152443.3(RDH12):c.175C>A (p.Leu59Ile)
NM_152443.3(RDH12):c.185G>A (p.Arg62Gln)
NM_152443.3(RDH12):c.185G>T (p.Arg62Leu) rs778481181
NM_152443.3(RDH12):c.188G>A (p.Gly63Glu)
NM_152443.3(RDH12):c.191C>A (p.Ala64Asp)
NM_152443.3(RDH12):c.191C>T (p.Ala64Val)
NM_152443.3(RDH12):c.203T>C (p.Ile68Thr) rs2038169727
NM_152443.3(RDH12):c.212G>A (p.Arg71Lys)
NM_152443.3(RDH12):c.216T>G (p.Asp72Glu) rs963233306
NM_152443.3(RDH12):c.224A>G (p.Lys75Arg)
NM_152443.3(RDH12):c.227G>T (p.Gly76Val)
NM_152443.3(RDH12):c.230A>G (p.Glu77Gly)
NM_152443.3(RDH12):c.231G>T (p.Glu77Asp)
NM_152443.3(RDH12):c.235G>C (p.Ala79Pro)
NM_152443.3(RDH12):c.265A>C (p.Asn89His) rs927359411
NM_152443.3(RDH12):c.26C>A (p.Thr9Asn) rs1173475346
NM_152443.3(RDH12):c.26C>T (p.Thr9Ile)
NM_152443.3(RDH12):c.26CCT[1] (p.Ser10del) rs754556714
NM_152443.3(RDH12):c.283C>A (p.Arg95=) rs552516182
NM_152443.3(RDH12):c.302A>T (p.Asp101Val)
NM_152443.3(RDH12):c.320C>G (p.Ala107Gly)
NM_152443.3(RDH12):c.32T>C (p.Phe11Ser)
NM_152443.3(RDH12):c.32TCT[1] (p.Phe12del) rs1274797842
NM_152443.3(RDH12):c.340G>A (p.Ala114Thr) rs2038171993
NM_152443.3(RDH12):c.340G>T (p.Ala114Ser) rs2038171993
NM_152443.3(RDH12):c.343+6G>T
NM_152443.3(RDH12):c.359A>C (p.His120Pro)
NM_152443.3(RDH12):c.380G>A (p.Gly127Glu) rs2140143704
NM_152443.3(RDH12):c.392G>T (p.Cys131Phe)
NM_152443.3(RDH12):c.444C>A (p.His148Gln)
NM_152443.3(RDH12):c.448+4A>G rs987481207
NM_152443.3(RDH12):c.448+4_448+7del
NM_152443.3(RDH12):c.44T>G (p.Leu15Arg)
NM_152443.3(RDH12):c.452A>G (p.His151Arg) rs1254990753
NM_152443.3(RDH12):c.490G>A (p.Val164Met)
NM_152443.3(RDH12):c.499C>T (p.Pro167Ser)
NM_152443.3(RDH12):c.500C>T (p.Pro167Leu)
NM_152443.3(RDH12):c.521C>T (p.Ser174Phe) rs1388761778
NM_152443.3(RDH12):c.523T>G (p.Ser175Ala)
NM_152443.3(RDH12):c.536A>T (p.His179Leu)
NM_152443.3(RDH12):c.56C>T (p.Ala19Val)
NM_152443.3(RDH12):c.571G>A (p.Glu191Lys)
NM_152443.3(RDH12):c.58C>T (p.Pro20Ser)
NM_152443.3(RDH12):c.593T>C (p.Phe198Ser)
NM_152443.3(RDH12):c.596C>T (p.Ala199Val)
NM_152443.3(RDH12):c.608G>C (p.Ser203Thr) rs1374822427
NM_152443.3(RDH12):c.630T>G (p.Phe210Leu) rs771268615
NM_152443.3(RDH12):c.634C>G (p.Arg212Gly) rs146653515
NM_152443.3(RDH12):c.635G>A (p.Arg212His)
NM_152443.3(RDH12):c.635G>T (p.Arg212Leu) rs768529116
NM_152443.3(RDH12):c.641T>C (p.Leu214Pro) rs998898101
NM_152443.3(RDH12):c.643G>C (p.Ala215Pro)
NM_152443.3(RDH12):c.647A>G (p.Lys216Arg)
NM_152443.3(RDH12):c.651G>C (p.Arg217Ser)
NM_152443.3(RDH12):c.659-3C>T
NM_152443.3(RDH12):c.663C>A (p.Thr221=)
NM_152443.3(RDH12):c.664G>A (p.Gly222Arg)
NM_152443.3(RDH12):c.664G>T (p.Gly222Trp)
NM_152443.3(RDH12):c.68+5G>A rs2140138156
NM_152443.3(RDH12):c.68+6T>A
NM_152443.3(RDH12):c.69-3T>C rs757508966
NM_152443.3(RDH12):c.691G>C (p.Gly231Arg) rs2038232614
NM_152443.3(RDH12):c.700C>T (p.Arg234Cys)
NM_152443.3(RDH12):c.712G>C (p.Val238Leu) rs1316624378
NM_152443.3(RDH12):c.733T>G (p.Cys245Gly)
NM_152443.3(RDH12):c.739C>T (p.Leu247Phe) rs1185491186
NM_152443.3(RDH12):c.751T>C (p.Phe251Leu)
NM_152443.3(RDH12):c.755C>T (p.Ser252Phe)
NM_152443.3(RDH12):c.757C>A (p.Pro253Thr) rs943754830
NM_152443.3(RDH12):c.758C>A (p.Pro253His) rs770465995
NM_152443.3(RDH12):c.758C>G (p.Pro253Arg) rs770465995
NM_152443.3(RDH12):c.758C>T (p.Pro253Leu) rs770465995
NM_152443.3(RDH12):c.764T>G (p.Val255Gly)
NM_152443.3(RDH12):c.766A>C (p.Lys256Gln)
NM_152443.3(RDH12):c.780G>T (p.Glu260Asp)
NM_152443.3(RDH12):c.782G>C (p.Gly261Ala) rs2140150922
NM_152443.3(RDH12):c.782G>T (p.Gly261Val)
NM_152443.3(RDH12):c.791C>T (p.Thr264Ile)
NM_152443.3(RDH12):c.800A>C (p.His267Pro) rs1424264350
NM_152443.3(RDH12):c.825G>C (p.Glu275Asp)
NM_152443.3(RDH12):c.847A>G (p.Ser283Gly)
NM_152443.3(RDH12):c.848+1GT[2]
NM_152443.3(RDH12):c.848+3G>A rs2038237483
NM_152443.3(RDH12):c.849-6C>G rs1203847598
NM_152443.3(RDH12):c.854G>A (p.Cys285Tyr) rs973306929
NM_152443.3(RDH12):c.863C>T (p.Thr288Ile)
NM_152443.3(RDH12):c.874C>T (p.Pro292Ser)
NM_152443.3(RDH12):c.891_893dup (p.Asn297dup) rs2140162568
NM_152443.3(RDH12):c.904C>T (p.Arg302Cys)
NM_152443.3(RDH12):c.905G>A (p.Arg302His)
NM_152443.3(RDH12):c.929T>G (p.Leu310Arg) rs991322422
NM_152443.3(RDH12):c.938T>C (p.Ile313Thr) rs1197223861
NM_152443.3(RDH12):c.946del (p.Glu316fs)
NM_152443.3(RDH12):c.98C>T (p.Thr33Ile)
NM_201253.3(CRB1):c.1000G>A (p.Ala334Thr) rs2125354252
NM_201253.3(CRB1):c.1005G>T (p.Gln335His)
NM_201253.3(CRB1):c.1010A>G (p.Glu337Gly) rs2125354280
NM_201253.3(CRB1):c.1023T>A (p.Asn341Lys) rs1064797127
NM_201253.3(CRB1):c.1030A>C (p.Asn344His)
NM_201253.3(CRB1):c.1042T>C (p.Cys348Arg) rs2125354412
NM_201253.3(CRB1):c.1048T>C (p.Ser350Pro)
NM_201253.3(CRB1):c.1061G>A (p.Cys354Tyr)
NM_201253.3(CRB1):c.1093C>T (p.Arg365Cys) rs116347915
NM_201253.3(CRB1):c.1094G>A (p.Arg365His) rs777528044
NM_201253.3(CRB1):c.1094_1095delinsCT (p.Arg365Pro) rs1660512789
NM_201253.3(CRB1):c.1100C>T (p.Thr367Ile) rs764225776
NM_201253.3(CRB1):c.1109CTT[2] (p.Ser372del)
NM_201253.3(CRB1):c.1110_1111delinsGC (p.Ser371Pro) rs1660514556
NM_201253.3(CRB1):c.1123T>C (p.Tyr375His)
NM_201253.3(CRB1):c.1145T>C (p.Val382Ala)
NM_201253.3(CRB1):c.1183G>A (p.Glu395Lys)
NM_201253.3(CRB1):c.1186G>A (p.Glu396Lys)
NM_201253.3(CRB1):c.1196A>G (p.Asn399Ser)
NM_201253.3(CRB1):c.1204T>C (p.Ser402Pro)
NM_201253.3(CRB1):c.1253A>C (p.Asn418Thr) rs539152735
NM_201253.3(CRB1):c.1258A>G (p.Thr420Ala)
NM_201253.3(CRB1):c.1278T>G (p.Asp426Glu)
NM_201253.3(CRB1):c.1331G>A (p.Gly444Asp)
NM_201253.3(CRB1):c.1337C>A (p.Thr446Asn) rs1215864611
NM_201253.3(CRB1):c.137A>C (p.Lys46Thr)
NM_201253.3(CRB1):c.140A>G (p.Asp47Gly) rs1240979285
NM_201253.3(CRB1):c.1426A>G (p.Thr476Ala) rs1553260314
NM_201253.3(CRB1):c.142T>A (p.Phe48Ile) rs765448599
NM_201253.3(CRB1):c.1447G>C (p.Ala483Pro)
NM_201253.3(CRB1):c.1468G>C (p.Gly490Arg) rs1450685360
NM_201253.3(CRB1):c.1472A>T (p.Asp491Val) rs1664299898
NM_201253.3(CRB1):c.1474G>A (p.Gly492Ser)
NM_201253.3(CRB1):c.1534C>G (p.Leu512Val) rs1664304309
NM_201253.3(CRB1):c.1538G>T (p.Arg513Met) rs1571523673
NM_201253.3(CRB1):c.1544A>T (p.Gln515Leu) rs2125469961
NM_201253.3(CRB1):c.1580G>A (p.Ser527Asn)
NM_201253.3(CRB1):c.1613T>A (p.Leu538Gln) rs1664310357
NM_201253.3(CRB1):c.1622A>G (p.Tyr541Cys)
NM_201253.3(CRB1):c.1625T>C (p.Ile542Thr) rs2125470239
NM_201253.3(CRB1):c.1637T>C (p.Ile546Thr) rs1427090221
NM_201253.3(CRB1):c.1661T>G (p.Val554Gly)
NM_201253.3(CRB1):c.1664T>C (p.Leu555Pro)
NM_201253.3(CRB1):c.1685C>T (p.Thr562Ile)
NM_201253.3(CRB1):c.1687A>G (p.Ser563Gly) rs1193275021
NM_201253.3(CRB1):c.1699T>C (p.Trp567Arg) rs886043472
NM_201253.3(CRB1):c.1704T>A (p.His568Gln)
NM_201253.3(CRB1):c.1708G>A (p.Val570Met) rs754482666
NM_201253.3(CRB1):c.1712A>C (p.Glu571Ala) rs773233587
NM_201253.3(CRB1):c.1738C>T (p.Leu580Phe) rs761775378
NM_201253.3(CRB1):c.1755C>A (p.Asp585Glu) rs1034422363
NM_201253.3(CRB1):c.176C>T (p.Thr59Ile) rs1284729199
NM_201253.3(CRB1):c.1775T>C (p.Ile592Thr)
NM_201253.3(CRB1):c.1778C>G (p.Ala593Gly) rs1447630642
NM_201253.3(CRB1):c.1783G>C (p.Ala595Pro) rs752212470
NM_201253.3(CRB1):c.1783G>T (p.Ala595Ser) rs752212470
NM_201253.3(CRB1):c.1786C>A (p.Pro596Thr)
NM_201253.3(CRB1):c.1810T>G (p.Ser604Ala) rs1664329175
NM_201253.3(CRB1):c.1838_1840dup (p.Leu613_Gly614insVal) rs2125471114
NM_201253.3(CRB1):c.1852G>A (p.Val618Met) rs1169856523
NM_201253.3(CRB1):c.1873G>A (p.Val625Ile)
NM_201253.3(CRB1):c.1879C>G (p.Leu627Val)
NM_201253.3(CRB1):c.1903T>A (p.Ser635Thr)
NM_201253.3(CRB1):c.1903T>C (p.Ser635Pro)
NM_201253.3(CRB1):c.1910C>T (p.Pro637Leu) rs1238001290
NM_201253.3(CRB1):c.1922G>T (p.Gly641Val)
NM_201253.3(CRB1):c.1936A>C (p.Ile646Leu) rs757884719
NM_201253.3(CRB1):c.1958T>G (p.Ile653Ser) rs1336674793
NM_201253.3(CRB1):c.1996G>A (p.Val666Ile)
NM_201253.3(CRB1):c.2003C>T (p.Ala668Val)
NM_201253.3(CRB1):c.200G>C (p.Cys67Ser) rs749112809
NM_201253.3(CRB1):c.2036A>C (p.Gln679Pro)
NM_201253.3(CRB1):c.2056C>T (p.Arg686Cys) rs1204363918
NM_201253.3(CRB1):c.2057G>A (p.Arg686His) rs1281817527
NM_201253.3(CRB1):c.2066A>G (p.Asn689Ser) rs1664351600
NM_201253.3(CRB1):c.2129A>G (p.Glu710Gly) rs145282040
NM_201253.3(CRB1):c.2137G>A (p.Ala713Thr) rs2125483533
NM_201253.3(CRB1):c.2141G>A (p.Gly714Asp) rs2125483555
NM_201253.3(CRB1):c.2158G>A (p.Asp720Asn)
NM_201253.3(CRB1):c.2159A>G (p.Asp720Gly)
NM_201253.3(CRB1):c.2168G>T (p.Gly723Val) rs759961722
NM_201253.3(CRB1):c.2174T>A (p.Val725Asp)
NM_201253.3(CRB1):c.2174T>C (p.Val725Ala)
NM_201253.3(CRB1):c.218C>T (p.Pro73Leu)
NM_201253.3(CRB1):c.2196C>G (p.Ser732Arg)
NM_201253.3(CRB1):c.2198A>G (p.Tyr733Cys)
NM_201253.3(CRB1):c.2243C>T (p.Pro748Leu) rs1664651920
NM_201253.3(CRB1):c.2254C>T (p.Leu752Phe) rs2125483936
NM_201253.3(CRB1):c.2272A>G (p.Ser758Gly)
NM_201253.3(CRB1):c.2275A>G (p.Thr759Ala) rs1485086776
NM_201253.3(CRB1):c.2278T>A (p.Tyr760Asn) rs2125484022
NM_201253.3(CRB1):c.2288T>A (p.Ile763Asn) rs2125484063
NM_201253.3(CRB1):c.2306G>C (p.Arg769Pro) rs62636287
NM_201253.3(CRB1):c.2311A>G (p.Arg771Gly)
NM_201253.3(CRB1):c.2327C>T (p.Thr776Ile) rs1293863321
NM_201253.3(CRB1):c.2329C>G (p.Pro777Ala)
NM_201253.3(CRB1):c.2334C>G (p.Asn778Lys)
NM_201253.3(CRB1):c.2339C>T (p.Pro780Leu)
NM_201253.3(CRB1):c.2344T>G (p.Leu782Val)
NM_201253.3(CRB1):c.2365_2367del (p.Asn789del) rs1433518605
NM_201253.3(CRB1):c.2380C>A (p.His794Asn) rs1294237377
NM_201253.3(CRB1):c.2382C>G (p.His794Gln)
NM_201253.3(CRB1):c.2387T>C (p.Ile796Thr)
NM_201253.3(CRB1):c.238C>G (p.Gln80Glu) rs1658660736
NM_201253.3(CRB1):c.239A>T (p.Gln80Leu) rs1658660906
NM_201253.3(CRB1):c.2405C>T (p.Pro802Leu) rs1558132026
NM_201253.3(CRB1):c.2420T>C (p.Leu807Pro) rs1664667136
NM_201253.3(CRB1):c.2423A>G (p.Tyr808Cys) rs1009552469
NM_201253.3(CRB1):c.2459C>T (p.Ser820Phe)
NM_201253.3(CRB1):c.245G>A (p.Ser82Asn) rs1658661237
NM_201253.3(CRB1):c.2462C>G (p.Thr821Arg) rs142857810
NM_201253.3(CRB1):c.2479G>A (p.Gly827Arg) rs62636269
NM_201253.3(CRB1):c.250A>G (p.Thr84Ala) rs1658661930
NM_201253.3(CRB1):c.2522C>T (p.Thr841Ile) rs2125484956
NM_201253.3(CRB1):c.254G>T (p.Cys85Phe)
NM_201253.3(CRB1):c.2552G>C (p.Cys851Ser)
NM_201253.3(CRB1):c.2557C>A (p.Gln853Lys)
NM_201253.3(CRB1):c.2567G>A (p.Arg856Lys)
NM_201253.3(CRB1):c.2568A>C (p.Arg856Ser)
NM_201253.3(CRB1):c.2582A>C (p.Asn861Thr) rs1664679702
NM_201253.3(CRB1):c.2603C>T (p.Pro868Leu) rs1664680830
NM_201253.3(CRB1):c.2612A>G (p.Asn871Ser)
NM_201253.3(CRB1):c.2635G>A (p.Val879Ile)
NM_201253.3(CRB1):c.2645C>T (p.Thr882Ile)
NM_201253.3(CRB1):c.2647C>A (p.Gln883Lys) rs2125485481
NM_201253.3(CRB1):c.2651_2652delinsAT (p.Gly884Asp) rs2125485510
NM_201253.3(CRB1):c.2668A>G (p.Ser890Gly)
NM_201253.3(CRB1):c.2676+4A>G
NM_201253.3(CRB1):c.2676+5T>C
NM_201253.3(CRB1):c.2677-13C>A
NM_201253.3(CRB1):c.2683C>A (p.Pro895Thr) rs781635398
NM_201253.3(CRB1):c.2696G>T (p.Gly899Val) rs1254393801
NM_201253.3(CRB1):c.2698G>A (p.Gly900Ser) rs2125488768
NM_201253.3(CRB1):c.2727C>A (p.Phe909Leu)
NM_201253.3(CRB1):c.2779T>C (p.Trp927Arg)
NM_201253.3(CRB1):c.2784T>G (p.Cys928Trp)
NM_201253.3(CRB1):c.2805C>A (p.His935Gln) rs767706271
NM_201253.3(CRB1):c.2806G>A (p.Gly936Arg)
NM_201253.3(CRB1):c.2822C>T (p.Pro941Leu)
NM_201253.3(CRB1):c.2824G>A (p.Val942Met)
NM_201253.3(CRB1):c.2839G>A (p.Glu947Lys) rs574162883
NM_201253.3(CRB1):c.2839G>C (p.Glu947Gln)
NM_201253.3(CRB1):c.2843-4_2843-2del
NM_201253.3(CRB1):c.2849C>T (p.Ala950Val) rs1665039717
NM_201253.3(CRB1):c.2867G>T (p.Gly956Val) rs267598279
NM_201253.3(CRB1):c.2874C>A (p.Ser958Arg) rs372778560
NM_201253.3(CRB1):c.2883ATT[1] (p.Leu962del) rs62645745
NM_201253.3(CRB1):c.2889C>G (p.Phe963Leu) rs905306614
NM_201253.3(CRB1):c.2909C>T (p.Thr970Ile) rs766793013
NM_201253.3(CRB1):c.2914G>C (p.Glu972Gln) rs1665045248
NM_201253.3(CRB1):c.2930C>A (p.Thr977Lys) rs1665046846
NM_201253.3(CRB1):c.2939T>A (p.Phe980Tyr) rs1665047363
NM_201253.3(CRB1):c.2939T>G (p.Phe980Cys) rs1665047363
NM_201253.3(CRB1):c.2951A>C (p.Asp984Ala) rs1227467460
NM_201253.3(CRB1):c.2963T>C (p.Ile988Thr) rs1571555801
NM_201253.3(CRB1):c.2985G>T (p.Glu995Asp)
NM_201253.3(CRB1):c.298C>T (p.Pro100Ser) rs1404279052
NM_201253.3(CRB1):c.299C>T (p.Pro100Leu) rs2125304021
NM_201253.3(CRB1):c.3007A>G (p.Ile1003Val)
NM_201253.3(CRB1):c.3007A>T (p.Ile1003Phe) rs910299744
NM_201253.3(CRB1):c.3014A>G (p.Asp1005Gly) rs369184026
NM_201253.3(CRB1):c.3041G>A (p.Ser1014Asn)
NM_201253.3(CRB1):c.3049A>G (p.Ser1017Gly) rs2125499301
NM_201253.3(CRB1):c.3085G>A (p.Val1029Met) rs757383417
NM_201253.3(CRB1):c.308G>T (p.Ser103Ile) rs116254396
NM_201253.3(CRB1):c.3098C>T (p.Thr1033Ile)
NM_201253.3(CRB1):c.3100T>C (p.Trp1034Arg) rs1665062132
NM_201253.3(CRB1):c.3106G>A (p.Glu1036Lys)
NM_201253.3(CRB1):c.3137C>T (p.Ser1046Phe) rs1665065652
NM_201253.3(CRB1):c.316A>C (p.Ile106Leu)
NM_201253.3(CRB1):c.3173A>G (p.Glu1058Gly)
NM_201253.3(CRB1):c.3179C>T (p.Pro1060Leu)
NM_201253.3(CRB1):c.3183T>A (p.Phe1061Leu)
NM_201253.3(CRB1):c.3203C>A (p.Thr1068Asn) rs1452661857
NM_201253.3(CRB1):c.3209G>T (p.Ser1070Ile) rs1665074618
NM_201253.3(CRB1):c.320G>T (p.Cys107Phe)
NM_201253.3(CRB1):c.3211C>T (p.Leu1071Phe) rs398124614
NM_201253.3(CRB1):c.3224A>C (p.Lys1075Thr) rs2125499800
NM_201253.3(CRB1):c.3232A>G (p.Thr1078Ala)
NM_201253.3(CRB1):c.3256G>T (p.Ala1086Ser) rs2125499915
NM_201253.3(CRB1):c.3274G>A (p.Gly1092Ser) rs1402562231
NM_201253.3(CRB1):c.3282A>C (p.Gln1094His)
NM_201253.3(CRB1):c.3282A>T (p.Gln1094His) rs752719776
NM_201253.3(CRB1):c.328A>G (p.Thr110Ala)
NM_201253.3(CRB1):c.3304A>G (p.Ile1102Val)
NM_201253.3(CRB1):c.3343G>C (p.Gly1115Arg) rs779253997
NM_201253.3(CRB1):c.3373T>C (p.Phe1125Leu)
NM_201253.3(CRB1):c.338C>T (p.Ser113Phe)
NM_201253.3(CRB1):c.3398T>C (p.Val1133Ala)
NM_201253.3(CRB1):c.3406G>A (p.Gly1136Ser)
NM_201253.3(CRB1):c.3427T>C (p.Cys1143Arg)
NM_201253.3(CRB1):c.3466G>A (p.Asp1156Asn)
NM_201253.3(CRB1):c.3473A>G (p.Tyr1158Cys) rs2125500588
NM_201253.3(CRB1):c.3482A>G (p.Tyr1161Cys) rs1414707912
NM_201253.3(CRB1):c.3485A>G (p.His1162Arg) rs2125500617
NM_201253.3(CRB1):c.3491C>T (p.Ser1164Phe) rs761492989
NM_201253.3(CRB1):c.351C>G (p.Asn117Lys) rs794727317
NM_201253.3(CRB1):c.3521G>A (p.Cys1174Tyr) rs1665102302
NM_201253.3(CRB1):c.3526C>T (p.Leu1176Phe)
NM_201253.3(CRB1):c.3535G>A (p.Asp1179Asn)
NM_201253.3(CRB1):c.3538G>A (p.Glu1180Lys)
NM_201253.3(CRB1):c.353C>T (p.Ser118Phe)
NM_201253.3(CRB1):c.355T>G (p.Cys119Gly) rs1658671611
NM_201253.3(CRB1):c.3563A>G (p.His1188Arg) rs1665105838
NM_201253.3(CRB1):c.3564T>G (p.His1188Gln) rs376271122
NM_201253.3(CRB1):c.3583G>T (p.Val1195Phe) rs1558138977
NM_201253.3(CRB1):c.3596A>G (p.His1199Arg)
NM_201253.3(CRB1):c.3617A>T (p.Tyr1206Phe)
NM_201253.3(CRB1):c.3623G>T (p.Gly1208Val)
NM_201253.3(CRB1):c.3631T>A (p.Cys1211Ser)
NM_201253.3(CRB1):c.3643A>G (p.Ile1215Val) rs753102573
NM_201253.3(CRB1):c.3647A>G (p.Asp1216Gly) rs2125501023
NM_201253.3(CRB1):c.3679G>A (p.Ala1227Thr)
NM_201253.3(CRB1):c.3698C>T (p.Thr1233Ile) rs1665116355
NM_201253.3(CRB1):c.370A>T (p.Ile124Phe)
NM_201253.3(CRB1):c.371T>A (p.Ile124Asn) rs886045783
NM_201253.3(CRB1):c.3729T>G (p.Asn1243Lys)
NM_201253.3(CRB1):c.3749+5G>A
NM_201253.3(CRB1):c.3773T>G (p.Val1258Gly) rs2125506192
NM_201253.3(CRB1):c.377A>G (p.His126Arg) rs1300735825
NM_201253.3(CRB1):c.3784G>A (p.Glu1262Lys) rs1007094417
NM_201253.3(CRB1):c.3785A>G (p.Glu1262Gly)
NM_201253.3(CRB1):c.3824C>G (p.Thr1275Arg)
NM_201253.3(CRB1):c.3840A>T (p.Glu1280Asp)
NM_201253.3(CRB1):c.3848G>A (p.Cys1283Tyr) rs1665279435
NM_201253.3(CRB1):c.3857G>A (p.Arg1286Gln)
NM_201253.3(CRB1):c.3881G>T (p.Cys1294Phe) rs754575460
NM_201253.3(CRB1):c.3917G>A (p.Cys1306Tyr) rs2125513658
NM_201253.3(CRB1):c.3923A>G (p.Asn1308Ser) rs747631811
NM_201253.3(CRB1):c.3928G>A (p.Gly1310Ser) rs1411240510
NM_201253.3(CRB1):c.3929G>C (p.Gly1310Ala) rs778373995
NM_201253.3(CRB1):c.3935G>T (p.Cys1312Phe)
NM_201253.3(CRB1):c.3947T>G (p.Leu1316Arg)
NM_201253.3(CRB1):c.3974_3976dup (p.Val1325dup) rs750573216
NM_201253.3(CRB1):c.3987C>T (p.Gly1329=)
NM_201253.3(CRB1):c.4005C>T (p.Asp1335=)
NM_201253.3(CRB1):c.4006-18T>G rs2125573687
NM_201253.3(CRB1):c.4009G>A (p.Ala1337Thr)
NM_201253.3(CRB1):c.4014T>A (p.Asp1338Glu)
NM_201253.3(CRB1):c.4046G>A (p.Gly1349Asp) rs761584516
NM_201253.3(CRB1):c.405C>G (p.Ile135Met)
NM_201253.3(CRB1):c.407G>T (p.Cys136Phe) rs752559648
NM_201253.3(CRB1):c.40C>T (p.Leu14Phe)
NM_201253.3(CRB1):c.4106C>A (p.Thr1369Asn) rs1667262233
NM_201253.3(CRB1):c.4136A>C (p.Tyr1379Ser) rs1571645532
NM_201253.3(CRB1):c.413C>A (p.Ala138Asp)
NM_201253.3(CRB1):c.4140C>A (p.Ser1380Arg)
NM_201253.3(CRB1):c.4147C>G (p.Arg1383Gly)
NM_201253.3(CRB1):c.4148G>T (p.Arg1383Leu)
NM_201253.3(CRB1):c.4151A>G (p.Gln1384Arg)
NM_201253.3(CRB1):c.4160A>C (p.Glu1387Ala)
NM_201253.3(CRB1):c.4163G>A (p.Gly1388Asp) rs765740058
NM_201253.3(CRB1):c.4163G>T (p.Gly1388Val) rs765740058
NM_201253.3(CRB1):c.4166C>T (p.Ser1389Phe) rs775906215
NM_201253.3(CRB1):c.4169G>C (p.Arg1390Pro) rs764581378
NM_201253.3(CRB1):c.4172T>G (p.Val1391Gly)
NM_201253.3(CRB1):c.4196C>T (p.Pro1399Leu) rs1261177913
NM_201253.3(CRB1):c.4202C>A (p.Ala1401Glu)
NM_201253.3(CRB1):c.4205T>C (p.Met1402Thr) rs767920858
NM_201253.3(CRB1):c.4219T>C (p.Ter1407Gln) rs1667270315
NM_201253.3(CRB1):c.439A>G (p.Ile147Val) rs2125304346
NM_201253.3(CRB1):c.467C>T (p.Pro156Leu) rs1420941782
NM_201253.3(CRB1):c.470G>A (p.Cys157Tyr) rs2125304430
NM_201253.3(CRB1):c.478G>T (p.Gly160Trp)
NM_201253.3(CRB1):c.481G>A (p.Ala161Thr) rs1064797126
NM_201253.3(CRB1):c.487T>G (p.Cys163Gly) rs2125304485
NM_201253.3(CRB1):c.491A>G (p.Gln164Arg) rs952354514
NM_201253.3(CRB1):c.502G>T (p.Asp168Tyr) rs773457531
NM_201253.3(CRB1):c.512C>G (p.Ser171Cys) rs763841981
NM_201253.3(CRB1):c.515G>T (p.Cys172Phe) rs756931963
NM_201253.3(CRB1):c.521G>C (p.Cys174Ser)
NM_201253.3(CRB1):c.526C>T (p.Pro176Ser)
NM_201253.3(CRB1):c.532T>C (p.Tyr178His)
NM_201253.3(CRB1):c.550G>A (p.Asp184Asn)
NM_201253.3(CRB1):c.551A>G (p.Asp184Gly)
NM_201253.3(CRB1):c.578A>G (p.Asp193Gly)
NM_201253.3(CRB1):c.579T>A (p.Asp193Glu)
NM_201253.3(CRB1):c.592G>A (p.Glu198Lys) rs1658694943
NM_201253.3(CRB1):c.604C>T (p.Leu202Phe)
NM_201253.3(CRB1):c.616G>A (p.Gly206Arg)
NM_201253.3(CRB1):c.629G>A (p.Cys210Tyr)
NM_201253.3(CRB1):c.62A>G (p.Tyr21Cys)
NM_201253.3(CRB1):c.635G>A (p.Cys212Tyr) rs1658699227
NM_201253.3(CRB1):c.635G>C (p.Cys212Ser)
NM_201253.3(CRB1):c.666A>T (p.Glu222Asp) rs1659641198
NM_201253.3(CRB1):c.677A>C (p.Asp226Ala)
NM_201253.3(CRB1):c.683G>A (p.Cys228Tyr) rs1163013240
NM_201253.3(CRB1):c.697T>C (p.Cys233Arg) rs978649523
NM_201253.3(CRB1):c.698G>A (p.Cys233Tyr)
NM_201253.3(CRB1):c.757G>A (p.Gly253Arg)
NM_201253.3(CRB1):c.769G>T (p.Asp257Tyr) rs2125328452
NM_201253.3(CRB1):c.774C>A (p.His258Gln) rs2125328459
NM_201253.3(CRB1):c.775T>C (p.Cys259Arg)
NM_201253.3(CRB1):c.796T>A (p.Cys266Ser) rs1659650891
NM_201253.3(CRB1):c.805C>A (p.Gln269Lys)
NM_201253.3(CRB1):c.809C>G (p.Pro270Arg) rs1659652337
NM_201253.3(CRB1):c.817C>T (p.His273Tyr)
NM_201253.3(CRB1):c.823G>A (p.Gly275Arg)
NM_201253.3(CRB1):c.830G>A (p.Cys277Tyr)
NM_201253.3(CRB1):c.833T>C (p.Val278Ala)
NM_201253.3(CRB1):c.839G>A (p.Gly280Glu) rs930465675
NM_201253.3(CRB1):c.848+4C>G rs1659656136
NM_201253.3(CRB1):c.862T>C (p.Cys288Arg) rs1571877872
NM_201253.3(CRB1):c.866C>A (p.Thr289Lys)
NM_201253.3(CRB1):c.872G>T (p.Ser291Ile) rs1374962600
NM_201253.3(CRB1):c.875G>T (p.Gly292Val)
NM_201253.3(CRB1):c.889C>T (p.His297Tyr)
NM_201253.3(CRB1):c.89ACA[1] (p.Asn31del)
NM_201253.3(CRB1):c.926C>G (p.Pro309Arg)
NM_201253.3(CRB1):c.955A>C (p.Ser319Arg)
NM_201253.3(CRB1):c.964A>G (p.Asn322Asp) rs942572644
NM_201253.3(CRB1):c.97A>G (p.Arg33Gly) rs1452416023
NM_201253.3(CRB1):c.982T>C (p.Trp328Arg)
NM_201253.3(CRB1):c.987T>C (p.Pro329=) rs754038973

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