ClinVar Miner

List of variants reported as likely pathogenic for perceptual disorders by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1814
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HGVS dbSNP gnomAD frequency
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_001039876.3(SYNE4):c.699G>A (p.Trp233Ter) rs200484521 0.00066
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882 0.00066
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_138691.3(TMC1):c.1763+3A>G rs370898981 0.00056
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_000260.4(MYO7A):c.19G>A (p.Gly7Arg) rs372509310 0.00043
NM_000350.3(ABCA4):c.926C>G (p.Pro309Arg) rs61748545 0.00039
NM_001297.5(CNGB1):c.11G>A (p.Trp4Ter) rs201976061 0.00037
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_000350.3(ABCA4):c.2930C>T (p.Thr977Met) rs148015012 0.00034
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser) rs61748532 0.00033
NM_001297.5(CNGB1):c.2029C>T (p.Arg677Cys) rs368329828 0.00031
NM_016239.4(MYO15A):c.9620G>A (p.Arg3207His) rs199621031 0.00026
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu) rs570277510 0.00026
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln) rs148460146 0.00024
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp) rs370359511 0.00024
NM_016239.4(MYO15A):c.5978G>A (p.Arg1993Gln) rs117071200 0.00024
NM_001142800.2(EYS):c.3443+1G>T rs373441420 0.00022
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala) rs149802213 0.00022
NM_006005.3(WFS1):c.2053C>T (p.Arg685Cys) rs112967046 0.00020
NM_006005.3(WFS1):c.1820C>T (p.Pro607Leu) rs373862003 0.00019
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp) rs374963432 0.00018
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys) rs139444207 0.00015
NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr) rs142898216 0.00015
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) rs121909207 0.00014
NM_001298.3(CNGA3):c.101+1G>A rs147118493 0.00014
NM_004004.6(GJB2):c.110T>C (p.Val37Ala) rs141774369 0.00014
NM_016239.4(MYO15A):c.8090T>C (p.Val2697Ala) rs200451098 0.00013
NM_000329.3(RPE65):c.433G>A (p.Ala145Thr) rs767528365 0.00012
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg) rs104893615 0.00012
NM_001298.3(CNGA3):c.1981C>A (p.Arg661Ser) rs183838250 0.00012
NM_003322.6(TULP1):c.1496-6C>A rs281865171 0.00011
NM_006005.3(WFS1):c.2603G>A (p.Arg868His) rs56393026 0.00010
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271 0.00010
NM_000350.3(ABCA4):c.2813T>C (p.Phe938Ser) rs149071415 0.00009
NM_001256317.3(TMPRSS3):c.316C>T (p.Arg106Cys) rs139805921 0.00009
NM_001256317.3(TMPRSS3):c.326G>A (p.Arg109Gln) rs139484231 0.00009
NM_001297.5(CNGB1):c.2794+1G>A rs770011113 0.00009
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_019098.5(CNGB3):c.2086C>T (p.Arg696Ter) rs192448853 0.00009
NM_021615.5(CHST6):c.1A>T (p.Met1Leu) rs755563003 0.00009
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) rs756147087 0.00009
NM_025114.4(CEP290):c.4437+1G>A rs760915898 0.00009
NM_206933.4(USH2A):c.4397-1G>A rs199982344 0.00009
NM_001378615.1(CC2D2A):c.1017+1G>A rs200407856 0.00008
NM_001384474.1(LOXHD1):c.6363C>A (p.Cys2121Ter) rs754765193 0.00008
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys) rs376469502 0.00008
NM_001102564.3(IFT43):c.328C>T (p.Gln110Ter) rs201794999 0.00007
NM_001379270.1(CNGA1):c.1873C>T (p.Arg625Ter) rs376959147 0.00007
NM_022124.6(CDH23):c.5009T>A (p.Val1670Asp) rs397517333 0.00007
NM_152443.3(RDH12):c.806C>G (p.Ala269Gly) rs116802390 0.00007
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322 0.00006
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn) rs201539845 0.00006
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met) rs62642575 0.00006
NM_000441.2(SLC26A4):c.1454C>T (p.Thr485Met) rs370029782 0.00006
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421 0.00006
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter) rs137853190 0.00006
NM_001298.3(CNGA3):c.1982G>A (p.Arg661His) rs144715956 0.00006
NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter) rs377177061 0.00006
NM_001384474.1(LOXHD1):c.3061+1G>A rs537227442 0.00006
NM_004004.6(GJB2):c.238C>T (p.Gln80Ter) rs199883710 0.00006
NM_006005.3(WFS1):c.977C>T (p.Ala326Val) rs369795224 0.00006
NM_006204.4(PDE6C):c.85C>T (p.Arg29Trp) rs121918537 0.00006
NM_014249.4(NR2E3):c.646G>A (p.Gly216Ser) rs368098126 0.00006
NM_014714.4(IFT140):c.1010-1G>A rs770185023 0.00006
NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter) rs1002670900 0.00006
NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met) rs749136456 0.00006
NM_016239.4(MYO15A):c.8714-1G>A rs377015931 0.00006
NM_022124.6(CDH23):c.6050-15G>A rs373838930 0.00006
NM_138691.3(TMC1):c.1114G>A (p.Val372Met) rs367924428 0.00006
NM_153700.2(STRC):c.4219-1G>A rs748854592 0.00006
NM_206933.4(USH2A):c.10999A>C (p.Thr3667Pro) rs150822759 0.00006
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853 0.00006
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599 0.00006
NM_000064.4(C3):c.193A>C (p.Lys65Gln) rs539992721 0.00005
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486 0.00005
NM_000274.4(OAT):c.1250C>T (p.Pro417Leu) rs121965044 0.00005
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln) rs61748559 0.00005
NM_000350.3(ABCA4):c.4519G>A (p.Gly1507Arg) rs568792949 0.00005
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242 0.00005
NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly) rs778030177 0.00005
NM_001142800.2(EYS):c.6473T>C (p.Leu2158Pro) rs777735735 0.00005
NM_001142800.2(EYS):c.6571+5G>A rs991580368 0.00005
NM_001854.4(COL11A1):c.1245+1G>A rs766849561 0.00005
NM_006005.3(WFS1):c.1673G>A (p.Arg558His) rs774265764 0.00005
NM_019098.5(CNGB3):c.467C>T (p.Ser156Phe) rs139207764 0.00005
NM_152443.3(RDH12):c.278T>C (p.Leu93Pro) rs527800020 0.00005
NM_178857.6(RP1L1):c.1189C>T (p.Arg397Ter) rs371886218 0.00005
NM_206933.4(USH2A):c.14489C>G (p.Ser4830Ter) rs184351619 0.00005
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr) rs768445391 0.00004
NM_000350.3(ABCA4):c.5642C>T (p.Ala1881Val) rs369973540 0.00004
NM_001039876.3(SYNE4):c.559C>T (p.Arg187Ter) rs750797779 0.00004
NM_001142800.2(EYS):c.3878-2A>G rs752930400 0.00004
NM_001142800.2(EYS):c.967G>T (p.Gly323Ter) rs746499646 0.00004
NM_001252024.2(TRPM1):c.2543C>T (p.Ala848Val) rs180869804 0.00004
NM_001256317.3(TMPRSS3):c.346G>A (p.Val116Met) rs200090033 0.00004
NM_001292063.2(OTOG):c.3457C>T (p.Arg1153Ter) rs772430523 0.00004
NM_001297.5(CNGB1):c.534+1G>A rs200862689 0.00004
NM_001298.3(CNGA3):c.1585G>A (p.Val529Met) rs104893619 0.00004
NM_001378609.3(OTOGL):c.3213+1G>A rs370730786 0.00004
NM_001378609.3(OTOGL):c.63del (p.Leu22fs) rs376104832 0.00004
NM_006005.3(WFS1):c.2149G>A (p.Glu717Lys) rs71532863 0.00004
NM_006005.3(WFS1):c.2293del (p.Cys765fs) rs1381011685 0.00004
NM_014714.4(IFT140):c.1513C>T (p.Arg505Ter) rs1257804746 0.00004
NM_016239.4(MYO15A):c.10573del (p.Ser3525fs) rs1270302810 0.00004
NM_016239.4(MYO15A):c.6371G>A (p.Arg2124Gln) rs368053088 0.00004
NM_016239.4(MYO15A):c.9517+2T>C rs1322423998 0.00004
NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter) rs192003551 0.00004
NM_022124.6(CDH23):c.5747G>A (p.Arg1916His) rs746971522 0.00004
NM_025114.4(CEP290):c.7073_7077dup (p.His2360Ter) rs1294402003 0.00004
NM_033056.4(PCDH15):c.4599_4600dup (p.Ser1534fs) rs1436725375 0.00004
NM_033056.4(PCDH15):c.4644_4689dup (p.Arg1564delinsCysArgProIlePheThrGlnAsnThrSerGlnGluTer) rs751539473 0.00004
NM_144596.4(TTC8):c.489G>A (p.Thr163=) rs119103286 0.00004
NM_172240.3(POC1B):c.424C>T (p.Arg142Ter) rs756143769 0.00004
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) rs121908143 0.00004
NM_174878.3(CLRN1):c.127G>A (p.Gly43Arg) rs111033434 0.00004
NM_201548.5(CERKL):c.953T>C (p.Phe318Ser) rs745341953 0.00004
NM_206933.4(USH2A):c.9258G>T (p.Gln3086His) rs1380261595 0.00004
NM_000260.4(MYO7A):c.397C>A (p.His133Asn) rs111033403 0.00003
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) rs111033181 0.00003
NM_000326.5(RLBP1):c.25C>T (p.Arg9Cys) rs775252439 0.00003
NM_000350.3(ABCA4):c.4327C>T (p.Arg1443Cys) rs533422156 0.00003
NM_000350.3(ABCA4):c.5087G>A (p.Ser1696Asn) rs61750564 0.00003
NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro) rs201660407 0.00003
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly) rs757820624 0.00003
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119 0.00003
NM_001142800.2(EYS):c.632G>T (p.Cys211Phe) rs772707303 0.00003
NM_001142800.2(EYS):c.7810C>T (p.Arg2604Cys) rs1015857165 0.00003
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs) rs763028732 0.00003
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs) rs1326370032 0.00003
NM_001297.5(CNGB1):c.1210-2A>G rs373232101 0.00003
NM_001298.3(CNGA3):c.67C>T (p.Arg23Ter) rs777509481 0.00003
NM_001371596.2(MFSD8):c.1444C>T (p.Arg482Ter) rs724159971 0.00003
NM_001384474.1(LOXHD1):c.442A>T (p.Lys148Ter) rs886044666 0.00003
NM_002905.5(RDH5):c.388C>T (p.Gln130Ter) rs375788435 0.00003
NM_003322.6(TULP1):c.1495+1G>A rs281865168 0.00003
NM_004004.6(GJB2):c.550C>T (p.Arg184Trp) rs998045226 0.00003
NM_006383.4(CIB2):c.196C>T (p.Arg66Trp) rs780168150 0.00003
NM_006383.4(CIB2):c.272T>C (p.Phe91Ser) rs397515411 0.00003
NM_006383.4(CIB2):c.300_309del (p.Glu100fs) rs765741202 0.00003
NM_014249.4(NR2E3):c.229C>T (p.Arg77Trp) rs779903522 0.00003
NM_014249.4(NR2E3):c.305C>A (p.Ala102Asp) rs772881093 0.00003
NM_014714.4(IFT140):c.1901+1G>T rs375910993 0.00003
NM_014714.4(IFT140):c.2611C>T (p.Arg871Cys) rs767213195 0.00003
NM_016239.4(MYO15A):c.1223C>T (p.Ala408Val) rs191710555 0.00003
NM_025114.4(CEP290):c.5745dup (p.Lys1916Ter) rs751361090 0.00003
NM_031885.5(BBS2):c.943C>T (p.Arg315Trp) rs121908178 0.00003
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs) rs774056663 0.00003
NM_033629.6(TREX1):c.290G>A (p.Arg97His) rs200773268 0.00003
NM_033629.6(TREX1):c.500del (p.Ser167fs) rs76642637 0.00003
NM_201253.3(CRB1):c.2252T>A (p.Leu751Ter) rs1409490389 0.00003
NM_201253.3(CRB1):c.2291G>A (p.Arg764His) rs375040930 0.00003
NM_201548.5(CERKL):c.222del (p.Gln74fs) rs1476585944 0.00003
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp) rs397517984 0.00003
NM_206933.4(USH2A):c.13348C>T (p.Pro4450Ser) rs141696914 0.00003
NM_206933.4(USH2A):c.14350G>A (p.Glu4784Lys) rs746837034 0.00003
NM_206933.4(USH2A):c.4016T>G (p.Val1339Gly) rs781668118 0.00003
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg) rs1342455785 0.00003
NM_000180.4(GUCY2D):c.760G>T (p.Glu254Ter) rs756730335 0.00002
NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys) rs397516292 0.00002
NM_000260.4(MYO7A):c.20G>T (p.Gly7Val) rs781989117 0.00002
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp) rs554073390 0.00002
NM_000260.4(MYO7A):c.3G>A (p.Met1Ile) rs782787126 0.00002
NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys) rs121965080 0.00002
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly) rs62637004 0.00002
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu) rs199683808 0.00002
NM_000350.3(ABCA4):c.6113G>A (p.Arg2038Gln) rs767729255 0.00002
NM_000350.3(ABCA4):c.70C>T (p.Arg24Cys) rs62645942 0.00002
NM_000440.3(PDE6A):c.1685G>A (p.Arg562Gln) rs373537826 0.00002
NM_000440.3(PDE6A):c.2T>C (p.Met1Thr) rs943943635 0.00002
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His) rs111033254 0.00002
NM_000441.2(SLC26A4):c.1920G>A (p.Trp640Ter) rs368119540 0.00002
NM_001039876.3(SYNE4):c.442C>T (p.Arg148Ter) rs754343113 0.00002
NM_001122769.3(LCA5):c.652C>T (p.Arg218Ter) rs1318750068 0.00002
NM_001142800.2(EYS):c.1766+1G>T rs776204925 0.00002
NM_001142800.2(EYS):c.511C>T (p.Gln171Ter) rs747865323 0.00002
NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val) rs868349465 0.00002
NM_001142800.2(EYS):c.8054G>A (p.Gly2685Glu) rs919157306 0.00002
NM_001142800.2(EYS):c.8606C>G (p.Ser2869Ter) rs933169926 0.00002
NM_001142800.2(EYS):c.9344T>A (p.Val3115Asp) rs748838955 0.00002
NM_001201543.2(FAM161A):c.277G>T (p.Glu93Ter) rs531265943 0.00002
NM_001242957.3(MAK):c.1600G>T (p.Glu534Ter) rs926585713 0.00002
NM_001256317.3(TMPRSS3):c.1148T>A (p.Met383Lys) rs749798053 0.00002
NM_001278293.3(ARL6):c.281T>C (p.Ile94Thr) rs771054395 0.00002
NM_001278293.3(ARL6):c.499G>A (p.Gly167Arg) rs764523283 0.00002
NM_001297.5(CNGB1):c.16C>T (p.Gln6Ter) rs1427995653 0.00002
NM_001297.5(CNGB1):c.217+5G>C rs527236060 0.00002
NM_001298.3(CNGA3):c.1126G>A (p.Glu376Lys) rs1377555853 0.00002
NM_001371596.2(MFSD8):c.864-1G>A rs571950296 0.00002
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter) rs760676442 0.00002
NM_001378615.1(CC2D2A):c.3544T>C (p.Trp1182Arg) rs386833755 0.00002
NM_001378615.1(CC2D2A):c.3850C>T (p.Arg1284Cys) rs779823379 0.00002
NM_001379270.1(CNGA1):c.1915C>T (p.Arg639Ter) rs750954043 0.00002
NM_001384474.1(LOXHD1):c.4212+1G>A rs889110926 0.00002
NM_002905.5(RDH5):c.382G>A (p.Asp128Asn) rs377029071 0.00002
NM_003322.6(TULP1):c.932G>A (p.Arg311Gln) rs1279906432 0.00002
NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys) rs111033203 0.00002
NM_004004.6(GJB2):c.514T>A (p.Trp172Arg) rs770330002 0.00002
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu) rs372855769 0.00002
NM_006343.3(MERTK):c.345C>G (p.Cys115Trp) rs772421550 0.00002
NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys) rs527236086 0.00002
NM_014714.4(IFT140):c.1147C>T (p.Gln383Ter) rs1206753537 0.00002
NM_015662.3(IFT172):c.402+2T>G rs774548930 0.00002
NM_016239.4(MYO15A):c.7788-10A>G rs369105885 0.00002
NM_016356.5(DCDC2):c.942del (p.Gly315fs) rs1554144869 0.00002
NM_017739.4(POMGNT1):c.1649+1G>A rs752700398 0.00002
NM_018006.5(TRMU):c.249-2A>G rs768299416 0.00002
NM_018006.5(TRMU):c.680G>C (p.Arg227Thr) rs764622793 0.00002
NM_019098.5(CNGB3):c.1320+4A>G rs1026427970 0.00002
NM_020366.4(RPGRIP1):c.1792C>T (p.Arg598Ter) rs775935766 0.00002
NM_020366.4(RPGRIP1):c.1892A>G (p.His631Arg) rs535922252 0.00002
NM_021615.5(CHST6):c.997T>C (p.Trp333Arg) rs758657734 0.00002
NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp) rs750880909 0.00002
NM_022124.6(CDH23):c.7903G>T (p.Val2635Phe) rs763721044 0.00002
NM_022124.6(CDH23):c.8378G>A (p.Arg2793Gln) rs547034667 0.00002
NM_024741.3(ZNF408):c.1621C>T (p.Arg541Cys) rs781192528 0.00002
NM_025114.4(CEP290):c.7282_7283dup (p.Tyr2429fs) rs767231715 0.00002
NM_033056.4(PCDH15):c.4699_4715dup (p.Leu1573fs) rs763882874 0.00002
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr) rs766785968 0.00002
NM_080680.3(COL11A2):c.3058C>T (p.Arg1020Ter) rs911722283 0.00002
NM_138691.3(TMC1):c.674C>T (p.Pro225Leu) rs370088722 0.00002
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp) rs754875934 0.00002
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp) rs759408031 0.00002
NM_172240.3(POC1B):c.101-3T>G rs750116711 0.00002
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr) rs111033405 0.00002
NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys) rs781688103 0.00002
NM_201253.3(CRB1):c.3991C>T (p.Arg1331Cys) rs760544654 0.00002
NM_201548.5(CERKL):c.481+2T>G rs753994107 0.00002
NM_206933.4(USH2A):c.12295-2A>G rs151148854 0.00002
NM_206933.4(USH2A):c.1391G>A (p.Arg464His) rs771000800 0.00002
NM_206933.4(USH2A):c.14792-2A>G rs137853923 0.00002
NM_206933.4(USH2A):c.15178T>C (p.Ser5060Pro) rs752377040 0.00002
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr) rs746071929 0.00002
NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys) rs201529124 0.00002
NM_206933.4(USH2A):c.7525C>T (p.Arg2509Trp) rs1394948601 0.00002
NM_206933.4(USH2A):c.7871C>T (p.Pro2624Leu) rs748455430 0.00002
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg) rs201863550 0.00002
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp) rs1057519382 0.00002
NM_000041.4(APOE):c.127C>T (p.Arg43Cys) rs121918399 0.00001
NM_000096.4(CP):c.656T>A (p.Val219Glu) rs587780321 0.00001
NM_000180.4(GUCY2D):c.2384G>A (p.Arg795Gln) rs61750171 0.00001
NM_000180.4(GUCY2D):c.3224+1G>C rs757823463 0.00001
NM_000186.4(CFH):c.157C>T (p.Arg53Cys) rs757785149 0.00001
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) rs460184 0.00001
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp) rs1555067667 0.00001
NM_000260.4(MYO7A):c.1401_1403dup (p.Arg467_His468insGln) rs111033219 0.00001
NM_000260.4(MYO7A):c.2187+1G>A rs111033290 0.00001
NM_000260.4(MYO7A):c.285+1G>C rs782661097 0.00001
NM_000260.4(MYO7A):c.2863G>A (p.Gly955Ser) rs781988557 0.00001
NM_000260.4(MYO7A):c.3610C>A (p.Pro1204Thr) rs1555090442 0.00001
NM_000260.4(MYO7A):c.3718C>T (p.Arg1240Trp) rs371374104 0.00001
NM_000260.4(MYO7A):c.5177C>T (p.Pro1726Leu) rs1478464275 0.00001
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015 0.00001
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) rs397516323 0.00001
NM_000260.4(MYO7A):c.6230G>A (p.Trp2077Ter) rs776930594 0.00001
NM_000260.4(MYO7A):c.6551C>T (p.Thr2184Met) rs1383147250 0.00001
NM_000274.4(OAT):c.677C>T (p.Ala226Val) rs121965059 0.00001
NM_000274.4(OAT):c.721_722dup (p.Asp242fs) rs1468939642 0.00001
NM_000274.4(OAT):c.800C>T (p.Thr267Ile) rs386833618 0.00001
NM_000274.4(OAT):c.952G>A (p.Glu318Lys) rs386833621 0.00001
NM_000283.4(PDE6B):c.1624C>T (p.Arg542Trp) rs760042062 0.00001
NM_000326.5(RLBP1):c.12+2del rs1445909096 0.00001
NM_000326.5(RLBP1):c.141+2T>C rs760650165 0.00001
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln) rs62636299 0.00001
NM_000329.3(RPE65):c.484A>C (p.Thr162Pro) rs774309607 0.00001
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr) rs61752883 0.00001
NM_000350.3(ABCA4):c.1342A>G (p.Met448Val) rs1169850759 0.00001
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558 0.00001
NM_000350.3(ABCA4):c.1726G>C (p.Asp576His) rs374224955 0.00001
NM_000350.3(ABCA4):c.1761-2A>G rs754765164 0.00001
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) rs61749420 0.00001
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile) rs575453437 0.00001
NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr) rs61749437 0.00001
NM_000350.3(ABCA4):c.3149G>A (p.Gly1050Asp) rs61750062 0.00001
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) rs61750146 0.00001
NM_000350.3(ABCA4):c.4463G>T (p.Cys1488Phe) rs61750147 0.00001
NM_000350.3(ABCA4):c.4849-1G>A rs61750156 0.00001
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg) rs61753017 0.00001
NM_000350.3(ABCA4):c.5572T>A (p.Tyr1858Asn) rs371489809 0.00001
NM_000350.3(ABCA4):c.5578C>T (p.Arg1860Trp) rs200849015 0.00001
NM_000350.3(ABCA4):c.6317G>A (p.Arg2106His) rs1057520213 0.00001
NM_000350.3(ABCA4):c.6342G>A (p.Val2114=) rs61748520 0.00001
NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys) rs61748538 0.00001
NM_000440.3(PDE6A):c.1620+2T>A rs1383907349 0.00001
NM_000440.3(PDE6A):c.1630C>T (p.Arg544Trp) rs144484128 0.00001
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr) rs111033257 0.00001
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val) rs397516424 0.00001
NM_000441.2(SLC26A4):c.259G>T (p.Asp87Tyr) rs1554352718 0.00001
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr) rs111033454 0.00001
NM_001039141.3(TRIOBP):c.2176C>T (p.Arg726Ter) rs375857763 0.00001
NM_001080476.3(GRXCR1):c.79C>T (p.Arg27Ter) rs769983282 0.00001
NM_001102564.3(IFT43):c.214_215+2del rs777112610 0.00001
NM_001122769.3(LCA5):c.1444C>T (p.Arg482Ter) rs1182277140 0.00001
NM_001122769.3(LCA5):c.2T>C (p.Met1Thr) rs1331645027 0.00001
NM_001142800.2(EYS):c.2964C>G (p.Tyr988Ter) rs1245121527 0.00001
NM_001142800.2(EYS):c.3970del (p.Leu1324fs) rs1431710414 0.00001
NM_001142800.2(EYS):c.4955C>G (p.Ser1652Ter) rs909730457 0.00001
NM_001142800.2(EYS):c.5644+5G>A rs794727412 0.00001
NM_001142800.2(EYS):c.5959A>C (p.Thr1987Pro) rs1278246029 0.00001
NM_001142800.2(EYS):c.6571+1G>A rs1193854376 0.00001
NM_001142800.2(EYS):c.7578+1G>A rs1228475082 0.00001
NM_001142800.2(EYS):c.7970del (p.Asp2657fs) rs1477098845 0.00001
NM_001142800.2(EYS):c.8168del (p.Gln2723fs) rs1168101857 0.00001
NM_001142800.2(EYS):c.8984T>A (p.Ile2995Asn) rs1211856182 0.00001
NM_001142800.2(EYS):c.9059T>C (p.Ile3020Thr) rs948998853 0.00001
NM_001201543.2(FAM161A):c.1060C>T (p.Arg354Ter) rs769445913 0.00001
NM_001242957.3(MAK):c.1698C>A (p.Tyr566Ter) rs186643840 0.00001
NM_001242957.3(MAK):c.37G>A (p.Gly13Ser) rs387906647 0.00001
NM_001256317.3(TMPRSS3):c.310G>A (p.Glu104Lys) rs373058706 0.00001
NM_001278293.3(ARL6):c.362G>A (p.Arg121His) rs765715798 0.00001
NM_001278293.3(ARL6):c.506G>C (p.Gly169Ala) rs104893679 0.00001
NM_001278293.3(ARL6):c.92C>G (p.Thr31Arg) rs104893680 0.00001
NM_001297.5(CNGB1):c.1122-9G>A rs750225817 0.00001
NM_001297.5(CNGB1):c.2293C>T (p.Arg765Cys) rs771833874 0.00001
NM_001297.5(CNGB1):c.2570_2571insT (p.Glu857fs) rs775887058 0.00001
NM_001297.5(CNGB1):c.2921T>G (p.Met974Arg) rs752967885 0.00001
NM_001297.5(CNGB1):c.3095+1G>A rs758524873 0.00001
NM_001298.3(CNGA3):c.1315C>T (p.Arg439Trp) rs749842881 0.00001
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu) rs267607235 0.00001
NM_001371596.2(MFSD8):c.416G>A (p.Arg139His) rs749704755 0.00001
NM_001371596.2(MFSD8):c.77T>G (p.Leu26Ter) rs760049336 0.00001
NM_001378609.3(OTOGL):c.1890-1G>T rs777911261 0.00001
NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val) rs773881370 0.00001
NM_001378615.1(CC2D2A):c.3763C>T (p.Arg1255Ter) rs1271825377 0.00001
NM_001378615.1(CC2D2A):c.3989G>A (p.Arg1330Gln) rs763486732 0.00001
NM_001378615.1(CC2D2A):c.712G>T (p.Glu238Ter) rs761213221 0.00001
NM_001379270.1(CNGA1):c.530del (p.Thr177fs) rs1476546899 0.00001
NM_001384140.1(PCDH15):c.1915C>T (p.Gln639Ter) rs138983888 0.00001
NM_001384140.1(PCDH15):c.3806+2T>C rs756692340 0.00001
NM_001384140.1(PCDH15):c.556C>T (p.Gln186Ter) rs1384677442 0.00001
NM_001384474.1(LOXHD1):c.1538del (p.Leu513fs) rs1568206162 0.00001
NM_001384474.1(LOXHD1):c.246-2A>G rs763062406 0.00001
NM_001384474.1(LOXHD1):c.3514+1G>A rs1463849219 0.00001
NM_001384474.1(LOXHD1):c.4531-2A>G rs951333133 0.00001
NM_001384474.1(LOXHD1):c.4936C>T (p.Arg1646Ter) rs960741408 0.00001
NM_001384474.1(LOXHD1):c.5002C>T (p.Arg1668Ter) rs961865375 0.00001
NM_001384474.1(LOXHD1):c.5731G>A (p.Gly1911Arg) rs780560784 0.00001
NM_002241.5(KCNJ10):c.179T>C (p.Ile60Thr) rs759993423 0.00001
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter) rs138943405 0.00001
NM_003322.6(TULP1):c.349G>A (p.Glu117Lys) rs527236117 0.00001
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309 0.00001
NM_004004.6(GJB2):c.246C>G (p.Ile82Met) rs781534323 0.00001
NM_004004.6(GJB2):c.279G>A (p.Met93Ile) rs397516871 0.00001
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946 0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068 0.00001
NM_004004.6(GJB2):c.584T>C (p.Met195Thr) rs1378679640 0.00001
NM_004004.6(GJB2):c.60T>G (p.Ile20Met) rs749693224 0.00001
NM_006005.3(WFS1):c.1082C>T (p.Thr361Ile) rs781575919 0.00001
NM_006005.3(WFS1):c.1096C>T (p.Gln366Ter) rs761320763 0.00001
NM_006005.3(WFS1):c.1619G>A (p.Trp540Ter) rs1335076773 0.00001
NM_006005.3(WFS1):c.2194C>T (p.Arg732Cys) rs71526458 0.00001
NM_006005.3(WFS1):c.397G>A (p.Ala133Thr) rs372249044 0.00001
NM_006269.2(RP1):c.1468G>T (p.Glu490Ter) rs765035454 0.00001
NM_014336.5(AIPL1):c.276+1G>A rs150097891 0.00001
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg) rs201883601 0.00001
NM_014714.4(IFT140):c.1451C>T (p.Thr484Met) rs758052634 0.00001
NM_014714.4(IFT140):c.2578-2A>G rs2040685752 0.00001
NM_014714.4(IFT140):c.2598C>G (p.Tyr866Ter) rs144513458 0.00001
NM_014714.4(IFT140):c.3214C>T (p.Arg1072Ter) rs1432688490 0.00001
NM_014714.4(IFT140):c.3874-1G>A rs749563050 0.00001
NM_014714.4(IFT140):c.409C>T (p.Arg137Ter) rs762817061 0.00001
NM_014714.4(IFT140):c.4196T>C (p.Leu1399Pro) rs559371453 0.00001
NM_014714.4(IFT140):c.472C>T (p.Arg158Trp) rs755315693 0.00001
NM_015662.3(IFT172):c.1525-1G>A rs370540673 0.00001
NM_015662.3(IFT172):c.2365C>T (p.Arg789Ter) rs202024173 0.00001
NM_015662.3(IFT172):c.2536C>T (p.Arg846Ter) rs761095604 0.00001
NM_015662.3(IFT172):c.3793G>T (p.Glu1265Ter) rs999731005 0.00001
NM_015662.3(IFT172):c.4519C>T (p.Arg1507Ter) rs150246251 0.00001
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys) rs587777079 0.00001
NM_015662.3(IFT172):c.4868C>T (p.Thr1623Ile) rs762958757 0.00001
NM_016239.4(MYO15A):c.10082+1G>A rs772568482 0.00001
NM_016239.4(MYO15A):c.4252G>A (p.Gly1418Arg) rs753790346 0.00001
NM_016239.4(MYO15A):c.5810G>A (p.Arg1937His) rs374183624 0.00001
NM_016239.4(MYO15A):c.6436C>T (p.Arg2146Trp) rs375805896 0.00001
NM_016239.4(MYO15A):c.6634G>A (p.Glu2212Lys) rs371352836 0.00001
NM_016239.4(MYO15A):c.8375T>C (p.Val2792Ala) rs983107737 0.00001
NM_016239.4(MYO15A):c.9765_9766insGG (p.Ile3256fs) rs757070287 0.00001
NM_017739.4(POMGNT1):c.1010T>C (p.Ile337Thr) rs138745073 0.00001
NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His) rs762972459 0.00001
NM_017739.4(POMGNT1):c.1152+2T>C rs1553163335 0.00001
NM_017739.4(POMGNT1):c.1342G>C (p.Gly448Arg) rs386834014 0.00001
NM_017739.4(POMGNT1):c.1489C>T (p.Arg497Ter) rs745343484 0.00001
NM_017739.4(POMGNT1):c.1490G>A (p.Arg497Gln) rs573518562 0.00001
NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser) rs760705290 0.00001
NM_017739.4(POMGNT1):c.236-1G>T rs1057516477 0.00001
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp) rs375431575 0.00001
NM_017739.4(POMGNT1):c.652+1G>T rs386834035 0.00001
NM_017739.4(POMGNT1):c.751+1G>A rs1247668825 0.00001
NM_018006.5(TRMU):c.2T>G (p.Met1Arg) rs118203992 0.00001
NM_018006.5(TRMU):c.83-2A>G rs747853875 0.00001
NM_019098.5(CNGB3):c.1447T>G (p.Tyr483Asp) rs373270306 0.00001
NM_019098.5(CNGB3):c.1929-1G>A rs750257554 0.00001
NM_019098.5(CNGB3):c.2011G>T (p.Glu671Ter) rs761969118 0.00001
NM_019098.5(CNGB3):c.2T>C (p.Met1Thr) rs1554619514 0.00001
NM_020366.4(RPGRIP1):c.931-2A>G rs374188857 0.00001
NM_021615.5(CHST6):c.172C>T (p.Gln58Ter) rs756036451 0.00001
NM_021615.5(CHST6):c.827T>C (p.Leu276Pro) rs121917824 0.00001
NM_022124.6(CDH23):c.2398-1G>T rs751788879 0.00001
NM_022124.6(CDH23):c.2591G>T (p.Gly864Val) rs1317670560 0.00001
NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu) rs771353319 0.00001
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253 0.00001
NM_022124.6(CDH23):c.6696del (p.Ala2232_Val2233insTer) rs1278603247 0.00001
NM_022124.6(CDH23):c.7274_7275del (p.Thr2425fs) rs1841497902 0.00001
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter) rs1344509500 0.00001
NM_025114.4(CEP290):c.1711+1G>A rs587783009 0.00001
NM_025114.4(CEP290):c.181-2A>G rs886042359 0.00001
NM_025114.4(CEP290):c.297+1G>T rs878853360 0.00001
NM_025114.4(CEP290):c.2T>A (p.Met1Lys) rs368984997 0.00001
NM_025114.4(CEP290):c.3104-5T>G rs1302558061 0.00001
NM_025114.4(CEP290):c.3G>A (p.Met1Ile) rs773525033 0.00001
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter) rs757641323 0.00001
NM_025114.4(CEP290):c.5012+2T>C rs1369768287 0.00001
NM_025114.4(CEP290):c.5587-1G>C rs968692633 0.00001
NM_025114.4(CEP290):c.5941G>T (p.Glu1981Ter) rs767426153 0.00001
NM_025114.4(CEP290):c.6358-1G>A rs766670248 0.00001
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter) rs1374014119 0.00001
NM_031885.5(BBS2):c.1112del (p.Asp371fs) rs1472488128 0.00001
NM_031885.5(BBS2):c.117G>A (p.Lys39=) rs755877218 0.00001
NM_031885.5(BBS2):c.1986dup (p.Asn663Ter) rs1597001788 0.00001
NM_031885.5(BBS2):c.241G>T (p.Gly81Cys) rs750506474 0.00001
NM_031885.5(BBS2):c.522T>A (p.Asp174Glu) rs767373822 0.00001
NM_033056.4(PCDH15):c.4533_4554dup (p.Glu1519delinsLysIleHisIleSerIleTer) rs746017823 0.00001
NM_033056.4(PCDH15):c.4604_4608dup (p.Ser1537fs) rs747516133 0.00001
NM_033629.6(TREX1):c.340C>T (p.Arg114Cys) rs760838030 0.00001
NM_080680.3(COL11A2):c.1999G>A (p.Gly667Ser) rs1322629595 0.00001
NM_080680.3(COL11A2):c.2179G>A (p.Gly727Arg) rs768569721 0.00001
NM_080680.3(COL11A2):c.939+1G>A rs750173113 0.00001
NM_138691.3(TMC1):c.1334G>A (p.Arg445His) rs760532554 0.00001
NM_138691.3(TMC1):c.797T>C (p.Ile266Thr) rs747645756 0.00001
NM_138691.3(TMC1):c.884+2dup rs876658020 0.00001
NM_144499.3(GNAT1):c.273C>A (p.Tyr91Ter) rs143481438 0.00001
NM_144672.4(OTOA):c.1880+1G>A rs148690740 0.00001
NM_148960.3(CLDN19):c.83C>T (p.Pro28Leu) rs553635114 0.00001
NM_152419.3(HGSNAT):c.1129-2A>T rs749568919 0.00001
NM_152419.3(HGSNAT):c.118+1G>A rs1324229618 0.00001
NM_152419.3(HGSNAT):c.1464+1G>A rs398124545 0.00001
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu) rs121908282 0.00001
NM_152443.3(RDH12):c.407C>T (p.Thr136Ile) rs1206574200 0.00001
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile) rs121434337 0.00001
NM_153676.4(USH1C):c.104+1G>A rs1287021691 0.00001
NM_153676.4(USH1C):c.2227-1G>T rs778110397 0.00001
NM_172240.3(POC1B):c.676+1G>A rs909373397 0.00001
NM_174878.3(CLRN1):c.190G>A (p.Gly64Arg) rs1380661508 0.00001
NM_174878.3(CLRN1):c.253+1G>A rs1329440649 0.00001
NM_174878.3(CLRN1):c.606T>G (p.Asn202Lys) rs746128095 0.00001
NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro) rs769909288 0.00001
NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys) rs1271816211 0.00001
NM_201253.3(CRB1):c.2171A>G (p.Tyr724Cys) rs765676754 0.00001
NM_201253.3(CRB1):c.2549G>T (p.Gly850Val) rs757137398 0.00001
NM_201253.3(CRB1):c.2842+5G>A rs773914330 0.00001
NM_201253.3(CRB1):c.3017C>T (p.Ser1006Phe) rs878853367 0.00001
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro) rs62636276 0.00001
NM_201253.3(CRB1):c.3419T>A (p.Leu1140Ter) rs1342970033 0.00001
NM_201253.3(CRB1):c.3686G>C (p.Cys1229Ser) rs1031415706 0.00001
NM_201253.3(CRB1):c.3997G>A (p.Glu1333Lys) rs137853136 0.00001
NM_201253.3(CRB1):c.4006-10A>G rs766850702 0.00001
NM_201548.5(CERKL):c.1074-1G>C rs927261937 0.00001
NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter) rs1187839124 0.00001
NM_201548.5(CERKL):c.1566T>G (p.Tyr522Ter) rs1278226911 0.00001
NM_201548.5(CERKL):c.677+547G>C rs1044562973 0.00001
NM_201548.5(CERKL):c.677+581G>A rs1574454654 0.00001
NM_205861.3(DHDDS):c.658-2A>G rs1248671884 0.00001
NM_206933.4(USH2A):c.1040A>G (p.Asp347Gly) rs762384558 0.00001
NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr) rs111033265 0.00001
NM_206933.4(USH2A):c.11047+1G>A rs201730567 0.00001
NM_206933.4(USH2A):c.12560G>A (p.Arg4187His) rs147304271 0.00001
NM_206933.4(USH2A):c.12992A>G (p.Tyr4331Cys) rs1423233510 0.00001
NM_206933.4(USH2A):c.13514A>G (p.Tyr4505Cys) rs1268140508 0.00001
NM_206933.4(USH2A):c.1397G>T (p.Gly466Val) rs1553250627 0.00001
NM_206933.4(USH2A):c.14546G>A (p.Trp4849Ter) rs1656936749 0.00001
NM_206933.4(USH2A):c.14791+5G>T rs1235430504 0.00001
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284 0.00001
NM_206933.4(USH2A):c.2139C>T (p.Gly713=) rs765293412 0.00001
NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu) rs751479180 0.00001
NM_206933.4(USH2A):c.4616C>T (p.Thr1539Ile) rs758095361 0.00001
NM_206933.4(USH2A):c.5018T>C (p.Leu1673Pro) rs1162305984 0.00001
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp) rs770329105 0.00001
NM_206933.4(USH2A):c.5438_5443del (p.Ser1813_Ser1815delinsCys) rs752992414 0.00001
NM_206933.4(USH2A):c.8681+1G>A rs876657733 0.00001
NM_206933.4(USH2A):c.9259G>A (p.Val3087Ile) rs200382994 0.00001
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe) rs267598373 0.00001
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950 0.00001
NC_000010.11:g.71682535dup rs753886326
NC_000011.10:g.77198597_77198604delinsCA rs111033259
NM_000064.4(C3):c.1003+1G>A
NM_000064.4(C3):c.1775G>A (p.Arg592Gln) rs121909583
NM_000064.4(C3):c.2290C>T (p.Arg764Ter)
NM_000064.4(C3):c.2615del (p.Phe872fs)
NM_000064.4(C3):c.276del (p.Asn93fs)
NM_000064.4(C3):c.2825_2826del (p.Val942fs)
NM_000064.4(C3):c.2863+1G>T
NM_000064.4(C3):c.3687del (p.Asn1229fs)
NM_000064.4(C3):c.373dup (p.Leu125fs) rs1337559480
NM_000064.4(C3):c.4918del (p.Glu1640fs)
NM_000064.4(C3):c.774-1G>T
NM_000096.4(CP):c.1348+2T>C
NM_000096.4(CP):c.2242C>T (p.Gln748Ter)
NM_000096.4(CP):c.2260G>T (p.Glu754Ter)
NM_000096.4(CP):c.267G>A (p.Trp89Ter)
NM_000096.4(CP):c.3G>T (p.Met1Ile)
NM_000096.4(CP):c.607+1del rs753254095
NM_000096.4(CP):c.632_633del (p.Lys211fs)
NM_000180.4(GUCY2D):c.1341dup (p.Ser448fs)
NM_000180.4(GUCY2D):c.1378+1G>T
NM_000180.4(GUCY2D):c.1762C>T (p.Arg588Trp)
NM_000180.4(GUCY2D):c.1956+1G>A
NM_000180.4(GUCY2D):c.2260G>T (p.Glu754Ter) rs747951577
NM_000180.4(GUCY2D):c.2515_2522del (p.Thr839fs)
NM_000180.4(GUCY2D):c.3127del (p.Thr1043fs)
NM_000180.4(GUCY2D):c.856_876dup (p.Ser286_Leu292dup) rs2151799690
NM_000186.4(CFH):c.1337-2A>G
NM_000186.4(CFH):c.139del (p.Gln47fs)
NM_000186.4(CFH):c.1673G>A (p.Trp558Ter)
NM_000186.4(CFH):c.213G>A (p.Trp71Ter) rs1210674261
NM_000186.4(CFH):c.2236+1G>C
NM_000186.4(CFH):c.2575C>T (p.Gln859Ter)
NM_000186.4(CFH):c.2602dup (p.Ile868fs) rs2149113459
NM_000186.4(CFH):c.336T>A (p.Tyr112Ter)
NM_000186.4(CFH):c.3643C>T (p.Arg1215Ter) rs121913051
NM_000186.4(CFH):c.39G>A (p.Trp13Ter)
NM_000186.4(CFH):c.620-2A>G
NM_000188.3(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_000260.4(MYO7A):c.1005_1012delinsTGCCAACAGCCCCTTGCTGCCTCCCCTGATGCTGTGCCCC (p.Arg336fs)
NM_000260.4(MYO7A):c.1052C>A (p.Ser351Ter) rs782639389
NM_000260.4(MYO7A):c.1080+1G>C
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys) rs782279338
NM_000260.4(MYO7A):c.1189G>A (p.Ala397Thr) rs1297886521
NM_000260.4(MYO7A):c.1200+1G>A rs397516283
NM_000260.4(MYO7A):c.1348G>C (p.Glu450Gln) rs1269622956
NM_000260.4(MYO7A):c.1349A>T (p.Glu450Val) rs1555069238
NM_000260.4(MYO7A):c.178dup (p.His60fs)
NM_000260.4(MYO7A):c.1798-7_1800delinsATCGGCTGCT rs1954226902
NM_000260.4(MYO7A):c.1955G>A (p.Cys652Tyr)
NM_000260.4(MYO7A):c.2094+2T>C
NM_000260.4(MYO7A):c.2187+2_2187+8del
NM_000260.4(MYO7A):c.2569C>T (p.Gln857Ter) rs1555082994
NM_000260.4(MYO7A):c.285+1G>T
NM_000260.4(MYO7A):c.2904G>A (p.Glu968=) rs111033233
NM_000260.4(MYO7A):c.2926_2938del (p.Glu976fs)
NM_000260.4(MYO7A):c.3109-2A>G
NM_000260.4(MYO7A):c.3286-2A>C
NM_000260.4(MYO7A):c.3298G>T (p.Glu1100Ter) rs782468194
NM_000260.4(MYO7A):c.338_348dup (p.Glu117fs) rs1064793208
NM_000260.4(MYO7A):c.3503+2T>C
NM_000260.4(MYO7A):c.3599del (p.Gly1200fs)
NM_000260.4(MYO7A):c.3656del (p.Gly1219fs)
NM_000260.4(MYO7A):c.3728dup (p.Pro1244fs) rs397516304
NM_000260.4(MYO7A):c.3829del (p.Ala1277fs) rs2135562294
NM_000260.4(MYO7A):c.3880_3881del (p.Lys1294fs)
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr) rs111033403
NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg) rs751769391
NM_000260.4(MYO7A):c.4642del (p.Gly1547_Leu1548insTer) rs1555100273
NM_000260.4(MYO7A):c.5127del (p.Lys1710fs)
NM_000260.4(MYO7A):c.5248del (p.Glu1750fs)
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg) rs111033192
NM_000260.4(MYO7A):c.5856+1G>A
NM_000260.4(MYO7A):c.5915G>A (p.Trp1972Ter)
NM_000260.4(MYO7A):c.604del (p.Ala202fs)
NM_000260.4(MYO7A):c.6079_6081del (p.His2027del) rs1957839812
NM_000260.4(MYO7A):c.721C>G (p.Arg241Gly)
NM_000260.4(MYO7A):c.75_76del (p.Ala26fs)
NM_000260.4(MYO7A):c.846dup (p.Met283fs)
NM_000260.4(MYO7A):c.947G>A (p.Trp316Ter)
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) rs797044491
NM_000260.4(MYO7A):c.979_985dup (p.Gly329fs)
NM_000274.4(OAT):c.1015del
NM_000274.4(OAT):c.1112dup (p.Arg372fs)
NM_000274.4(OAT):c.1159+2T>A
NM_000274.4(OAT):c.1186C>T (p.Arg396Ter) rs121965036
NM_000274.4(OAT):c.1264G>T (p.Glu422Ter)
NM_000274.4(OAT):c.192_193del (p.Gly65fs) rs386833600
NM_000274.4(OAT):c.520+1G>A
NM_000274.4(OAT):c.764_771+9delinsTTAGCTGTTTGTATCACACCA
NM_000274.4(OAT):c.799_802del (p.Thr267fs)
NM_000274.4(OAT):c.812G>A (p.Arg271Lys) rs121965042
NM_000274.4(OAT):c.824G>A (p.Trp275Ter) rs267606924
NM_000274.4(OAT):c.896dup (p.Tyr299Ter) rs2134456170
NM_000274.4(OAT):c.968dup (p.Tyr323Ter)
NM_000274.4(OAT):c.96_97del (p.Lys32fs)
NM_000274.4(OAT):c.97dup (p.Thr33fs) rs1375779674
NM_000274.4(OAT):c.994G>A (p.Val332Met) rs121965047
NM_000326.5(RLBP1):c.832del (p.Gln278fs) rs2051527389
NM_000329.3(RPE65):c.1088C>T (p.Pro363Leu)
NM_000329.3(RPE65):c.1244-1G>A
NM_000329.3(RPE65):c.1293C>A (p.Tyr431Ter)
NM_000329.3(RPE65):c.1338+1G>A rs1057518922
NM_000329.3(RPE65):c.1416del (p.Phe472fs)
NM_000329.3(RPE65):c.143G>A (p.Gly48Glu) rs2100831413
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp) rs62653015
NM_000329.3(RPE65):c.246-11A>G rs905365719
NM_000329.3(RPE65):c.304G>A (p.Glu102Lys) rs62642584
NM_000329.3(RPE65):c.41_42del (p.Lys14fs)
NM_000329.3(RPE65):c.540C>A (p.His180Gln)
NM_000329.3(RPE65):c.61del (p.Glu21fs) rs758550330
NM_000329.3(RPE65):c.718G>T (p.Val240Phe) rs192907397
NM_000329.3(RPE65):c.726-2A>T rs878853372
NM_000329.3(RPE65):c.982C>T (p.Leu328Phe) rs1169420841
NM_000330.4(RS1):c.461A>G (p.Gln154Arg) rs2147191205
NM_000330.4(RS1):c.544C>G (p.Arg182Gly) rs61753171
NM_000330.4(RS1):c.663dup (p.Lys222fs) rs199469700
NM_000350.3(ABCA4):c.1019A>C (p.Tyr340Ser) rs1191143782
NM_000350.3(ABCA4):c.1343T>A (p.Met448Lys) rs777078540
NM_000350.3(ABCA4):c.1496G>A (p.Trp499Ter) rs1661575232
NM_000350.3(ABCA4):c.160T>G (p.Cys54Gly) rs886044720
NM_000350.3(ABCA4):c.1958G>T (p.Arg653Leu) rs141823837
NM_000350.3(ABCA4):c.2294GTG[1] (p.Gly766del) rs2101069736
NM_000350.3(ABCA4):c.2587+2T>C rs1557783989
NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala) rs368846708
NM_000350.3(ABCA4):c.2900C>T (p.Ala967Val) rs1291080436
NM_000350.3(ABCA4):c.2912C>A (p.Thr971Asn) rs61749450
NM_000350.3(ABCA4):c.2972G>T (p.Gly991Val) rs1297410481
NM_000350.3(ABCA4):c.302+2T>G
NM_000350.3(ABCA4):c.3169G>T (p.Glu1057Ter)
NM_000350.3(ABCA4):c.3248T>A (p.Val1083Glu) rs1660531924
NM_000350.3(ABCA4):c.3386G>A (p.Arg1129His) rs1801269
NM_000350.3(ABCA4):c.3522+1G>A rs1265840106
NM_000350.3(ABCA4):c.4871G>A (p.Trp1624Ter)
NM_000350.3(ABCA4):c.4873C>T (p.His1625Tyr) rs1085307968
NM_000350.3(ABCA4):c.5012_5016del (p.Ile1671fs) rs1571257754
NM_000350.3(ABCA4):c.5059A>T (p.Ile1687Phe) rs201996979
NM_000350.3(ABCA4):c.559C>T (p.Arg187Cys)
NM_000350.3(ABCA4):c.5959_5964delinsTG (p.Thr1986_Gly1987insTer) rs1659427600
NM_000350.3(ABCA4):c.6006-1G>A
NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro) rs886044758
NM_000350.3(ABCA4):c.6191C>T (p.Ala2064Val) rs1362964563
NM_000350.3(ABCA4):c.6209C>G (p.Thr2070Arg)
NM_000350.3(ABCA4):c.67-2A>G rs398123339
NM_000350.3(ABCA4):c.6705dup (p.Val2236fs)
NM_000350.3(ABCA4):c.859-9T>C rs529598960
NM_000390.4(CHM):c.702+1G>T
NM_000440.3(PDE6A):c.1066-1G>A
NM_000440.3(PDE6A):c.1166C>T (p.Pro389Leu)
NM_000440.3(PDE6A):c.1535_1541del (p.Pro512fs)
NM_000440.3(PDE6A):c.2135+1G>A
NM_000440.3(PDE6A):c.2377GAG[1] (p.Glu794del) rs767540194
NM_000440.3(PDE6A):c.715C>T (p.Gln239Ter)
NM_000440.3(PDE6A):c.934G>T (p.Glu312Ter)
NM_000440.3(PDE6A):c.999-2A>G rs1753232409
NM_000441.2(SLC26A4):c.1001+1G>T rs80338849
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.1136_1148del (p.Ile379fs)
NM_000441.2(SLC26A4):c.1178TCT[1] (p.Phe394del) rs777008062
NM_000441.2(SLC26A4):c.1263+1G>A rs1057517000
NM_000441.2(SLC26A4):c.1263+1G>T rs1057517000
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.1315G>A (p.Gly439Arg)
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg) rs768471577
NM_000441.2(SLC26A4):c.1343C>A (p.Ser448Ter) rs747076316
NM_000441.2(SLC26A4):c.1437+2T>G rs397516418
NM_000441.2(SLC26A4):c.1574C>T (p.Pro525Leu) rs765197819
NM_000441.2(SLC26A4):c.1596T>A (p.Ser532Arg)
NM_000441.2(SLC26A4):c.1614+1G>T rs111033312
NM_000441.2(SLC26A4):c.164+1G>C rs1021962985
NM_000441.2(SLC26A4):c.1672A>C (p.Asn558His)
NM_000441.2(SLC26A4):c.1707+2T>C rs1554360707
NM_000441.2(SLC26A4):c.1708-1G>T rs759414956
NM_000441.2(SLC26A4):c.1741_1742del (p.Arg581fs) rs1554360841
NM_000441.2(SLC26A4):c.1803+1G>T
NM_000441.2(SLC26A4):c.1956del (p.Val653fs)
NM_000441.2(SLC26A4):c.202_203del (p.Leu68fs)
NM_000441.2(SLC26A4):c.2035-1G>C
NM_000441.2(SLC26A4):c.2049_2058del (p.Phe683fs)
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000441.2(SLC26A4):c.2177_2178dup (p.Leu727fs) rs1298217152
NM_000441.2(SLC26A4):c.227C>G (p.Pro76Arg) rs1345175795
NM_000441.2(SLC26A4):c.294_298del (p.Thr99fs) rs111033241
NM_000441.2(SLC26A4):c.296C>G (p.Thr99Arg) rs141142414
NM_000441.2(SLC26A4):c.305-1G>T
NM_000441.2(SLC26A4):c.334C>T (p.Pro112Ser) rs1409565648
NM_000441.2(SLC26A4):c.347G>T (p.Gly116Val) rs2129311246
NM_000441.2(SLC26A4):c.416G>T (p.Gly139Val) rs756272252
NM_000441.2(SLC26A4):c.419C>G (p.Pro140Arg)
NM_000441.2(SLC26A4):c.419C>T (p.Pro140Leu)
NM_000441.2(SLC26A4):c.598del (p.Gln200fs)
NM_000441.2(SLC26A4):c.846T>A (p.Cys282Ter)
NM_000441.2(SLC26A4):c.991_1001+7delinsCCCCA
NM_000541.5(SAG):c.435+1G>A rs750740193
NM_001031710.3(KLHL7):c.569dup (p.Thr191fs)
NM_001031710.3(KLHL7):c.576TCT[1] (p.Leu194del)
NM_001034853.2(RPGR):c.1506+1G>T
NM_001034853.2(RPGR):c.3151G>T (p.Glu1051Ter)
NM_001034853.2(RPGR):c.3255C>G (p.Tyr1085Ter)
NM_001034853.2(RPGR):c.620-2A>G
NM_001039876.3(SYNE4):c.121_122dup (p.Ser41fs) rs758800042
NM_001039876.3(SYNE4):c.128+1G>A
NM_001039876.3(SYNE4):c.136C>T (p.Gln46Ter)
NM_001039876.3(SYNE4):c.253_259dup (p.Ala87fs)
NM_001039876.3(SYNE4):c.377del (p.Gly126fs)
NM_001039876.3(SYNE4):c.430C>T (p.Gln144Ter)
NM_001039876.3(SYNE4):c.618+2T>A
NM_001039876.3(SYNE4):c.653T>A (p.Leu218Ter)
NM_001039876.3(SYNE4):c.662_666del (p.Glu221fs)
NM_001039876.3(SYNE4):c.742dup (p.Glu248fs)
NM_001039876.3(SYNE4):c.96dup (p.Val33fs)
NM_001039876.3(SYNE4):c.972+1G>A
NM_001039876.3(SYNE4):c.972+2T>G
NM_001042702.5(PJVK):c.124C>T (p.Arg42Ter)
NM_001042702.5(PJVK):c.420del (p.Phe140fs)
NM_001042702.5(PJVK):c.490C>T (p.Arg164Ter)
NM_001042702.5(PJVK):c.823dup (p.Ser275fs)
NM_001077620.3(PRCD):c.2T>C (p.Met1Thr) rs527236092
NM_001077620.3(PRCD):c.9del (p.Thr4fs)
NM_001080522.2(CC2D2A):c.3597_3600del
NM_001099274.3(TINF2):c.848C>T (p.Pro283Leu)
NM_001102564.3(IFT43):c.164T>A (p.Leu55Ter)
NM_001102564.3(IFT43):c.175C>T (p.Arg59Ter)
NM_001102564.3(IFT43):c.20T>A (p.Leu7Ter)
NM_001102564.3(IFT43):c.296-5686_296-5685del
NM_001102564.3(IFT43):c.368+1G>A
NM_001102564.3(IFT43):c.477del (p.Val160fs)
NM_001102564.3(IFT43):c.55del (p.Arg19fs)
NM_001122769.3(LCA5):c.1000C>T (p.Gln334Ter)
NM_001122769.3(LCA5):c.1273del (p.Ala425fs) rs1414684440
NM_001122769.3(LCA5):c.1525_1526del (p.Tyr509fs)
NM_001122769.3(LCA5):c.1A>T (p.Met1Leu)
NM_001122769.3(LCA5):c.37del (p.Glu13fs) rs2127683029
NM_001122769.3(LCA5):c.644del (p.Leu215fs)
NM_001122769.3(LCA5):c.744_750del (p.Ser249fs) rs1769904494
NM_001122769.3(LCA5):c.964C>T (p.Gln322Ter)
NM_001142800.2(EYS):c.1123G>T (p.Glu375Ter)
NM_001142800.2(EYS):c.1185-6T>G rs565046666
NM_001142800.2(EYS):c.1215_1216del (p.Cys405_Glu406delinsTer)
NM_001142800.2(EYS):c.1426C>T (p.Gln476Ter) rs1345460401
NM_001142800.2(EYS):c.1442G>A (p.Trp481Ter)
NM_001142800.2(EYS):c.1480C>T (p.Gln494Ter) rs1207818522
NM_001142800.2(EYS):c.160_162delinsAA (p.Tyr54fs)
NM_001142800.2(EYS):c.1961dup (p.Asn654fs) rs749103801
NM_001142800.2(EYS):c.2024-1G>A
NM_001142800.2(EYS):c.2486del (p.Ile829fs) rs2150076869
NM_001142800.2(EYS):c.2494C>T (p.Gln832Ter)
NM_001142800.2(EYS):c.2791G>T (p.Glu931Ter)
NM_001142800.2(EYS):c.2992+1G>T
NM_001142800.2(EYS):c.2993-1G>A
NM_001142800.2(EYS):c.3172G>T (p.Glu1058Ter) rs2150022015
NM_001142800.2(EYS):c.3349dup (p.Ser1117fs)
NM_001142800.2(EYS):c.3490G>T (p.Glu1164Ter) rs2149856835
NM_001142800.2(EYS):c.3561C>A (p.Cys1187Ter) rs1767601438
NM_001142800.2(EYS):c.3573G>A (p.Trp1191Ter) rs1239806410
NM_001142800.2(EYS):c.3806T>A (p.Leu1269Ter)
NM_001142800.2(EYS):c.3886C>T (p.Gln1296Ter)
NM_001142800.2(EYS):c.4103dup (p.Ser1369fs)
NM_001142800.2(EYS):c.4393dup (p.Ala1465fs) rs750840208
NM_001142800.2(EYS):c.4557del (p.Ala1520fs) rs768092887
NM_001142800.2(EYS):c.4628C>A (p.Ser1543Ter)
NM_001142800.2(EYS):c.4655T>G (p.Leu1552Ter) rs1054515897
NM_001142800.2(EYS):c.4791T>A (p.Tyr1597Ter)
NM_001142800.2(EYS):c.4901del (p.Lys1634fs)
NM_001142800.2(EYS):c.4934del (p.Leu1645fs)
NM_001142800.2(EYS):c.4994del (p.Cys1665fs)
NM_001142800.2(EYS):c.5084C>G (p.Ser1695Ter)
NM_001142800.2(EYS):c.525_527del (p.Glu176del) rs780433094
NM_001142800.2(EYS):c.5488G>T (p.Glu1830Ter)
NM_001142800.2(EYS):c.5667T>G (p.Tyr1889Ter)
NM_001142800.2(EYS):c.5928-3_5928-1del rs1554152094
NM_001142800.2(EYS):c.5975del (p.Asn1992fs)
NM_001142800.2(EYS):c.5989G>T (p.Glu1997Ter)
NM_001142800.2(EYS):c.6090del (p.Val2031fs)
NM_001142800.2(EYS):c.6189C>A (p.Cys2063Ter)
NM_001142800.2(EYS):c.637_643del (p.Glu213fs) rs1285201633
NM_001142800.2(EYS):c.6489del (p.Phe2163fs)
NM_001142800.2(EYS):c.6551T>A (p.Leu2184Ter)
NM_001142800.2(EYS):c.7016del (p.Cys2339fs) rs2149792238
NM_001142800.2(EYS):c.7187G>C (p.Cys2396Ser)
NM_001142800.2(EYS):c.7228_7228+1delinsTA rs1772614934
NM_001142800.2(EYS):c.7272del (p.Phe2424fs)
NM_001142800.2(EYS):c.7278C>A (p.Tyr2426Ter)
NM_001142800.2(EYS):c.749-1G>C rs368159852
NM_001142800.2(EYS):c.7937_7938del (p.Thr2646fs)
NM_001142800.2(EYS):c.7983del (p.Cys2662fs)
NM_001142800.2(EYS):c.8243del (p.Leu2748fs) rs1240944758
NM_001142800.2(EYS):c.8541T>A (p.Cys2847Ter)
NM_001142800.2(EYS):c.8734_8735insT (p.Gln2912fs)
NM_001142800.2(EYS):c.8830del (p.Val2944fs) rs776526721
NM_001142800.2(EYS):c.8892_8896del (p.Tyr2964_Lys2966delinsTer) rs1768367412
NM_001142800.2(EYS):c.8945_8946delinsATTTCAC (p.Ile2982fs)
NM_001142800.2(EYS):c.8982_8985del (p.Ile2995fs)
NM_001142800.2(EYS):c.9043_9044insTATA (p.Asn3015delinsIleTer)
NM_001142800.2(EYS):c.9131G>T (p.Trp3044Leu) rs772549804
NM_001142800.2(EYS):c.9159_9160del (p.Gln3053fs) rs1486663077
NM_001142800.2(EYS):c.9186_9187del (p.Asn3062fs) rs886044149
NM_001142800.2(EYS):c.9261dup (p.Gly3088fs) rs1768346880
NM_001142800.2(EYS):c.9354dup (p.Gln3119fs) rs771640639
NM_001142800.2(EYS):c.979C>T (p.Gln327Ter)
NM_001164688.2(RD3):c.265del (p.His89fs)
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs) rs397516633
NM_001199107.2(TBC1D24):c.1360_1363dup (p.Pro455fs) rs1292551263
NM_001199799.2(ILDR1):c.745del (p.Ser249fs) rs571007078
NM_001201543.2(FAM161A):c.1044T>A (p.Tyr348Ter)
NM_001201543.2(FAM161A):c.1250dup (p.Leu418fs)
NM_001201543.2(FAM161A):c.1490C>G (p.Ser497Ter) rs2105080547
NM_001201543.2(FAM161A):c.1666C>T (p.Gln556Ter) rs186972495
NM_001201543.2(FAM161A):c.1702_1703del (p.Ser568fs) rs928348793
NM_001201543.2(FAM161A):c.294del (p.Lys98_Val99insTer) rs762087385
NM_001201543.2(FAM161A):c.299_300del (p.Glu100fs) rs776996002
NM_001201543.2(FAM161A):c.458C>A (p.Ser153Ter)
NM_001201543.2(FAM161A):c.496dup (p.Ser166fs)
NM_001201543.2(FAM161A):c.513_514del (p.Ser172fs)
NM_001201543.2(FAM161A):c.691G>T (p.Glu231Ter)
NM_001201543.2(FAM161A):c.70G>T (p.Gly24Ter) rs2105111295
NM_001201543.2(FAM161A):c.758_759del (p.Glu253fs)
NM_001201543.2(FAM161A):c.847C>T (p.Arg283Ter) rs748847284
NM_001201543.2(FAM161A):c.961del (p.Ser321fs)
NM_001242957.3(MAK):c.1087_1088del (p.Gln364fs) rs1196153507
NM_001242957.3(MAK):c.1222del (p.Glu408fs) rs1241201095
NM_001242957.3(MAK):c.1294dup (p.Arg432fs)
NM_001242957.3(MAK):c.170_171del (p.Leu57fs) rs886043417
NM_001242957.3(MAK):c.1741C>T (p.Gln581Ter)
NM_001242957.3(MAK):c.394_395insCTTC (p.Leu132fs)
NM_001242957.3(MAK):c.79G>A (p.Gly27Arg) rs754916169
NM_001242957.3(MAK):c.79G>C (p.Gly27Arg) rs754916169
NM_001242957.3(MAK):c.947dup (p.Leu316fs)
NM_001243133.2(NLRP3):c.2575T>C (p.Tyr859His) rs2103174031
NM_001256317.3(TMPRSS3):c.1022C>A (p.Ser341Ter)
NM_001256317.3(TMPRSS3):c.1049-4G>A
NM_001256317.3(TMPRSS3):c.1303C>T (p.Arg435Cys) rs565348874
NM_001256317.3(TMPRSS3):c.206-2A>G
NM_001256317.3(TMPRSS3):c.399G>A (p.Trp133Ter)
NM_001256317.3(TMPRSS3):c.41C>A (p.Ser14Ter)
NM_001256317.3(TMPRSS3):c.446+1G>T
NM_001256317.3(TMPRSS3):c.573-1G>A
NM_001256317.3(TMPRSS3):c.643del (p.Ser215fs)
NM_001256317.3(TMPRSS3):c.771C>G (p.His257Gln)
NM_001256317.3(TMPRSS3):c.953-2A>G
NM_001256317.3(TMPRSS3):c.999del (p.Asp334fs)
NM_001278293.3(ARL6):c.29T>A (p.Leu10Ter) rs2036471593
NM_001278293.3(ARL6):c.480-2A>C
NM_001278293.3(ARL6):c.498del (p.Gly167fs)
NM_001278293.3(ARL6):c.68T>C (p.Leu23Pro)
NM_001297.5(CNGB1):c.1120_1121+2del rs778884136
NM_001297.5(CNGB1):c.1121+1G>A
NM_001297.5(CNGB1):c.1232del (p.Glu411fs)
NM_001297.5(CNGB1):c.1261dup (p.Ala421fs)
NM_001297.5(CNGB1):c.1372+2T>C
NM_001297.5(CNGB1):c.1373-1G>A rs1961362638
NM_001297.5(CNGB1):c.1373-2A>G
NM_001297.5(CNGB1):c.1527del (p.Thr510fs)
NM_001297.5(CNGB1):c.160_190del
NM_001297.5(CNGB1):c.1730_1731insC (p.Glu577fs)
NM_001297.5(CNGB1):c.1758_1761del (p.Ile587fs)
NM_001297.5(CNGB1):c.1958-2A>C
NM_001297.5(CNGB1):c.1979del (p.Leu660fs)
NM_001297.5(CNGB1):c.2030G>A (p.Arg677His) rs375519490
NM_001297.5(CNGB1):c.2088C>G (p.Tyr696Ter) rs1210263161
NM_001297.5(CNGB1):c.2305-34G>A
NM_001297.5(CNGB1):c.2369+1G>A rs756239195
NM_001297.5(CNGB1):c.2433G>A (p.Trp811Ter)
NM_001297.5(CNGB1):c.2493-2_2495delinsGGC
NM_001297.5(CNGB1):c.2507_2513del (p.Tyr836fs)
NM_001297.5(CNGB1):c.2552_2553insT (p.Lys853fs)
NM_001297.5(CNGB1):c.2763C>G (p.Tyr921Ter)
NM_001297.5(CNGB1):c.2864del (p.Asn955fs)
NM_001297.5(CNGB1):c.291-2A>C
NM_001297.5(CNGB1):c.3274_3276delinsAA (p.Glu1092fs)
NM_001297.5(CNGB1):c.381+1G>A
NM_001297.5(CNGB1):c.441dup (p.Glu148Ter)
NM_001297.5(CNGB1):c.458+1G>A
NM_001297.5(CNGB1):c.539G>A (p.Trp180Ter)
NM_001297.5(CNGB1):c.584-2A>G
NM_001297.5(CNGB1):c.700G>T (p.Glu234Ter)
NM_001297.5(CNGB1):c.762-2A>C
NM_001297.5(CNGB1):c.851dup (p.Gly285fs)
NM_001297.5(CNGB1):c.875-2A>G
NM_001298.3(CNGA3):c.-37-1G>C rs1553447991
NM_001298.3(CNGA3):c.1280G>T (p.Arg427Leu) rs771172885
NM_001298.3(CNGA3):c.1597G>C (p.Asp533His) rs775332304
NM_001298.3(CNGA3):c.1609del (p.Gln537fs) rs1293852552
NM_001298.3(CNGA3):c.1773C>A (p.Tyr591Ter)
NM_001298.3(CNGA3):c.626C>A (p.Ser209Ter)
NM_001298.3(CNGA3):c.848G>T (p.Arg283Leu)
NM_001298.3(CNGA3):c.934ATC[2] (p.Ile314del) rs777878533
NM_001371596.2(MFSD8):c.1102G>A (p.Asp368Asn)
NM_001371596.2(MFSD8):c.1124del (p.Pro375fs) rs1578794927
NM_001371596.2(MFSD8):c.1436G>A (p.Trp479Ter)
NM_001371596.2(MFSD8):c.198+2T>G
NM_001371596.2(MFSD8):c.25G>T (p.Glu9Ter)
NM_001371596.2(MFSD8):c.28C>T (p.Gln10Ter)
NM_001371596.2(MFSD8):c.472G>A (p.Gly158Ser)
NM_001371596.2(MFSD8):c.553+1G>A rs1553950197
NM_001371596.2(MFSD8):c.698+1G>A
NM_001371596.2(MFSD8):c.754+1G>A rs868732642
NM_001371596.2(MFSD8):c.910C>T (p.Gln304Ter)
NM_001375524.1(TRRAP):c.9952A>G (p.Met3318Val) rs1793524609
NM_001378615.1(CC2D2A):c.1082del (p.Pro361fs)
NM_001378615.1(CC2D2A):c.1140_1141del (p.Leu380_Tyr381insTer)
NM_001378615.1(CC2D2A):c.121C>T (p.Gln41Ter) rs2108970120
NM_001378615.1(CC2D2A):c.1297_1299delinsAA (p.Gln433fs) rs1560166511
NM_001378615.1(CC2D2A):c.1359+1G>A
NM_001378615.1(CC2D2A):c.1359+1G>C
NM_001378615.1(CC2D2A):c.1363C>T (p.Gln455Ter)
NM_001378615.1(CC2D2A):c.1365del (p.Ala456fs)
NM_001378615.1(CC2D2A):c.1705C>T (p.Gln569Ter)
NM_001378615.1(CC2D2A):c.1932dup (p.Pro645fs)
NM_001378615.1(CC2D2A):c.1938G>A (p.Trp646Ter)
NM_001378615.1(CC2D2A):c.1988_1991dup (p.Asp664delinsGluTer)
NM_001378615.1(CC2D2A):c.199del (p.Glu67fs) rs1433294475
NM_001378615.1(CC2D2A):c.2075_2078dup (p.Ser694fs)
NM_001378615.1(CC2D2A):c.2222_2229dup (p.Phe744fs) rs1471484901
NM_001378615.1(CC2D2A):c.2339-1G>A
NM_001378615.1(CC2D2A):c.2444del (p.Pro815fs)
NM_001378615.1(CC2D2A):c.2561G>A (p.Trp854Ter) rs1560180188
NM_001378615.1(CC2D2A):c.2568del (p.Glu857fs)
NM_001378615.1(CC2D2A):c.2581G>A (p.Asp861Asn)
NM_001378615.1(CC2D2A):c.2625+1G>A rs1577372471
NM_001378615.1(CC2D2A):c.2625G>C (p.Ser875=) rs765873247
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter) rs764719093
NM_001378615.1(CC2D2A):c.2686G>T (p.Glu896Ter)
NM_001378615.1(CC2D2A):c.2774G>C (p.Arg925Pro) rs200707391
NM_001378615.1(CC2D2A):c.278del (p.Thr93fs)
NM_001378615.1(CC2D2A):c.3014+1del
NM_001378615.1(CC2D2A):c.3100del (p.Gln1034fs)
NM_001378615.1(CC2D2A):c.3280del (p.Leu1094fs)
NM_001378615.1(CC2D2A):c.3317_3318del (p.Ser1106fs)
NM_001378615.1(CC2D2A):c.3535G>T (p.Glu1179Ter)
NM_001378615.1(CC2D2A):c.3588del (p.Ala1197fs) rs982352950
NM_001378615.1(CC2D2A):c.3679_3682del (p.Asp1227fs)
NM_001378615.1(CC2D2A):c.3784G>T (p.Glu1262Ter)
NM_001378615.1(CC2D2A):c.391_404delinsC (p.Ser133fs)
NM_001378615.1(CC2D2A):c.3920_3960dup (p.Leu1321Ter)
NM_001378615.1(CC2D2A):c.3976-3C>A rs576298659
NM_001378615.1(CC2D2A):c.4066-2del
NM_001378615.1(CC2D2A):c.4084dup (p.Ala1362fs) rs1313708855
NM_001378615.1(CC2D2A):c.41del (p.Glu14fs)
NM_001378615.1(CC2D2A):c.4315-1G>T
NM_001378615.1(CC2D2A):c.4522del (p.Ile1508fs) rs775292940
NM_001378615.1(CC2D2A):c.4555T>G (p.Trp1519Gly) rs1577406415
NM_001378615.1(CC2D2A):c.4590del (p.Leu1531fs)
NM_001378615.1(CC2D2A):c.4609dup (p.Ser1537fs)
NM_001378615.1(CC2D2A):c.463C>T (p.Gln155Ter)
NM_001378615.1(CC2D2A):c.4645del (p.Glu1549fs)
NM_001378615.1(CC2D2A):c.715del (p.Met239fs)
NM_001378615.1(CC2D2A):c.834del (p.Leu279fs) rs386833765
NM_001378615.1(CC2D2A):c.839del (p.Gln280fs)
NM_001378615.1(CC2D2A):c.977del (p.Asn326fs)
NM_001378615.1(CC2D2A):c.979C>T (p.Gln327Ter)
NM_001379270.1(CNGA1):c.107+2T>G
NM_001379270.1(CNGA1):c.1327del (p.Thr443fs)
NM_001379270.1(CNGA1):c.1327dup (p.Thr443fs) rs772867912
NM_001379270.1(CNGA1):c.1689_1702del (p.Ser563fs)
NM_001379270.1(CNGA1):c.1722del (p.Asp575fs) rs1443039086
NM_001379270.1(CNGA1):c.1743_1746del (p.Thr582fs) rs768694789
NM_001379270.1(CNGA1):c.318dup (p.Glu107fs)
NM_001379270.1(CNGA1):c.396_397del (p.Lys133fs)
NM_001379270.1(CNGA1):c.527G>A (p.Trp176Ter)
NM_001379270.1(CNGA1):c.528del (p.Asn175_Trp176insTer) rs1246377488
NM_001379270.1(CNGA1):c.545+2T>A
NM_001379270.1(CNGA1):c.816dup (p.Arg273fs) rs767994904
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe) rs62625014
NM_001384140.1(PCDH15):c.1209T>G (p.Tyr403Ter) rs759187261
NM_001384140.1(PCDH15):c.1306-2A>G
NM_001384140.1(PCDH15):c.1399C>T (p.Gln467Ter) rs2133817680
NM_001384140.1(PCDH15):c.16_20del (p.Tyr6fs)
NM_001384140.1(PCDH15):c.1737C>A (p.Tyr579Ter)
NM_001384140.1(PCDH15):c.1806T>G (p.Tyr602Ter) rs1057517443
NM_001384140.1(PCDH15):c.1977_1978del (p.Arg659fs) rs2136049616
NM_001384140.1(PCDH15):c.1A>G (p.Met1Val) rs1040514625
NM_001384140.1(PCDH15):c.2029_2044del (p.Asp677fs) rs765906921
NM_001384140.1(PCDH15):c.2107del (p.Thr702_Val703insTer)
NM_001384140.1(PCDH15):c.2220+2T>C
NM_001384140.1(PCDH15):c.2347del (p.Asp783fs) rs2135322143
NM_001384140.1(PCDH15):c.2414dup (p.Leu805fs)
NM_001384140.1(PCDH15):c.251G>A (p.Trp84Ter)
NM_001384140.1(PCDH15):c.2624C>A (p.Ser875Ter) rs201328768
NM_001384140.1(PCDH15):c.2818_2821dup (p.Lys941fs)
NM_001384140.1(PCDH15):c.299del (p.Gly100fs) rs1554940316
NM_001384140.1(PCDH15):c.3037G>T (p.Glu1013Ter)
NM_001384140.1(PCDH15):c.3270T>G (p.Tyr1090Ter)
NM_001384140.1(PCDH15):c.358_359del (p.Cys120fs) rs1057517264
NM_001384140.1(PCDH15):c.3688A>T (p.Lys1230Ter) rs2079479378
NM_001384140.1(PCDH15):c.3717+1G>A rs748706627
NM_001384140.1(PCDH15):c.4367+1G>A rs1057516613
NM_001384140.1(PCDH15):c.561dup (p.Glu188fs) rs2134175729
NM_001384140.1(PCDH15):c.706-3_717del rs769348776
NM_001384140.1(PCDH15):c.880G>T (p.Glu294Ter)
NM_001384474.1(LOXHD1):c.1072_1073del (p.Leu358fs) rs2038332961
NM_001384474.1(LOXHD1):c.1270+1G>A
NM_001384474.1(LOXHD1):c.1678_1679del (p.Cys560fs)
NM_001384474.1(LOXHD1):c.1906del (p.Asp636fs) rs1190328421
NM_001384474.1(LOXHD1):c.1908del (p.Asp636fs) rs2144134166
NM_001384474.1(LOXHD1):c.1971-1G>A
NM_001384474.1(LOXHD1):c.2048-2A>G
NM_001384474.1(LOXHD1):c.2235_2242del (p.Asn745fs)
NM_001384474.1(LOXHD1):c.2244+1G>A rs1296156738
NM_001384474.1(LOXHD1):c.2364G>A (p.Trp788Ter)
NM_001384474.1(LOXHD1):c.2437+1G>A
NM_001384474.1(LOXHD1):c.246-1G>T
NM_001384474.1(LOXHD1):c.2519dup (p.Glu841fs)
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro) rs745683775
NM_001384474.1(LOXHD1):c.2773C>T (p.Gln925Ter) rs2037495535
NM_001384474.1(LOXHD1):c.3166G>T (p.Glu1056Ter)
NM_001384474.1(LOXHD1):c.3268C>T (p.Arg1090Trp)
NM_001384474.1(LOXHD1):c.3350+1G>A rs1301706601
NM_001384474.1(LOXHD1):c.3351-1G>A rs868646051
NM_001384474.1(LOXHD1):c.366C>G (p.Tyr122Ter)
NM_001384474.1(LOXHD1):c.3781G>T (p.Glu1261Ter) rs2144361735
NM_001384474.1(LOXHD1):c.3913+2T>C
NM_001384474.1(LOXHD1):c.3914-1G>A rs2036406936
NM_001384474.1(LOXHD1):c.4005del (p.Val1336fs) rs35449699
NM_001384474.1(LOXHD1):c.4129C>T (p.Arg1377Trp)
NM_001384474.1(LOXHD1):c.4210_4211dup (p.Asp1404fs)
NM_001384474.1(LOXHD1):c.4375+2T>C
NM_001384474.1(LOXHD1):c.4376-1G>A
NM_001384474.1(LOXHD1):c.4413del (p.Pro1472fs) rs1407136283
NM_001384474.1(LOXHD1):c.4683dup (p.Arg1562fs) rs1409994676
NM_001384474.1(LOXHD1):c.4747_4751delinsT (p.Thr1583fs)
NM_001384474.1(LOXHD1):c.4832_4839dup (p.Thr1614delinsAlaGlnTer)
NM_001384474.1(LOXHD1):c.5049_5050insT (p.Ala1684fs)
NM_001384474.1(LOXHD1):c.5085+2T>G
NM_001384474.1(LOXHD1):c.512-1G>A
NM_001384474.1(LOXHD1):c.5330del (p.Asn1777fs) rs776345911
NM_001384474.1(LOXHD1):c.5539del (p.Thr1847fs)
NM_001384474.1(LOXHD1):c.5777dup (p.Asn1926fs)
NM_001384474.1(LOXHD1):c.5989C>T (p.Gln1997Ter) rs2033273061
NM_001384474.1(LOXHD1):c.6050-2A>C
NM_001384474.1(LOXHD1):c.6054C>A (p.Tyr2018Ter)
NM_001384474.1(LOXHD1):c.608_610+3del
NM_001384474.1(LOXHD1):c.6091dup (p.Arg2031fs)
NM_001384474.1(LOXHD1):c.610+1G>A
NM_001384474.1(LOXHD1):c.6128del (p.Asn2043fs)
NM_001384474.1(LOXHD1):c.613G>T (p.Glu205Ter)
NM_001384474.1(LOXHD1):c.6182+2T>G
NM_001384474.1(LOXHD1):c.6272_6273del (p.Phe2091fs)
NM_001384474.1(LOXHD1):c.6492T>G (p.Tyr2164Ter) rs1434725624
NM_001384474.1(LOXHD1):c.6554_6555del (p.Thr2185fs)
NM_001384474.1(LOXHD1):c.746G>A (p.Trp249Ter) rs1248889536
NM_001384474.1(LOXHD1):c.794_795del (p.Lys264_Tyr265insTer)
NM_001384474.1(LOXHD1):c.85G>T (p.Glu29Ter)
NM_001614.5(ACTG1):c.1013C>T (p.Ser338Leu) rs1192977984
NM_001854.4(COL11A1):c.3692G>T (p.Gly1231Val) rs750291363
NM_001854.4(COL11A1):c.4186G>T (p.Gly1396Cys) rs763199410
NM_002241.5(KCNJ10):c.581C>A (p.Pro194His) rs137853073
NM_002241.5(KCNJ10):c.889C>T (p.Arg297Cys) rs137853071
NM_002473.6(MYH9):c.2114G>A (p.Arg705His) rs80338828
NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp) rs1184544985
NM_002473.6(MYH9):c.4546G>A (p.Val1516Met) rs727503284
NM_002905.5(RDH5):c.107del (p.Cys36fs)
NM_002905.5(RDH5):c.148C>T (p.Gln50Ter)
NM_002905.5(RDH5):c.55_56del (p.Arg19fs)
NM_002905.5(RDH5):c.865del (p.Leu289fs)
NM_003322.6(TULP1):c.1102G>T (p.Gly368Trp) rs387906837
NM_003322.6(TULP1):c.1255del (p.Arg419fs) rs1387418594
NM_003322.6(TULP1):c.1388del (p.Asn463fs) rs1581736024
NM_003322.6(TULP1):c.1445G>T (p.Arg482Leu)
NM_003322.6(TULP1):c.715_718del (p.Lys239fs)
NM_003322.6(TULP1):c.806_807dup (p.Gly270fs)
NM_003322.6(TULP1):c.821del (p.Lys274fs) rs774204108
NM_003322.6(TULP1):c.822+1G>A
NM_003322.6(TULP1):c.961T>G (p.Tyr321Asp) rs794726991
NM_003322.6(TULP1):c.963T>G (p.Tyr321Ter)
NM_003611.3(OFD1):c.1055+1G>T
NM_003611.3(OFD1):c.1604dup (p.Leu535fs)
NM_004004.6(GJB2):c.-22-2A>G rs201895089
NM_004004.6(GJB2):c.-23+2T>G
NM_004004.6(GJB2):c.-23G>T rs786204734
NM_004004.6(GJB2):c.122AGG[1] (p.Glu42del) rs1566528901
NM_004004.6(GJB2):c.128T>C (p.Val43Ala)
NM_004004.6(GJB2):c.155_158del (p.Val52fs)
NM_004004.6(GJB2):c.161A>G (p.Asn54Ser) rs2137308512
NM_004004.6(GJB2):c.253T>C (p.Ser85Pro)
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_004004.6(GJB2):c.486_493dup (p.Arg165fs)
NM_004004.6(GJB2):c.498_499dup (p.Val167fs)
NM_004004.6(GJB2):c.516G>A (p.Trp172Ter) rs1302739538
NM_004004.6(GJB2):c.51_62delinsA (p.Thr18fs) rs886037624
NM_004004.6(GJB2):c.535G>C (p.Asp179His) rs28931595
NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter) rs1566528185
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004004.6(GJB2):c.98T>C (p.Ile33Thr)
NM_004523.4(KIF11):c.143_147del (p.Lys48fs)
NM_004700.4(KCNQ4):c.733G>A (p.Gly245Arg)
NM_005422.4(TECTA):c.102del (p.Asn34fs) rs2135050168
NM_005709.4(USH1C):c.1211-5_1232delinsCGG
NM_005709.4(USH1C):c.1216C>T (p.Gln406Ter)
NM_006005.3(WFS1):c.1500_1501insAGCGTCCCGTGCCTGTCGGCCACCTGGTCGTCCTCAAT (p.Val501fs)
NM_006005.3(WFS1):c.1538_1539dup (p.Leu514fs)
NM_006005.3(WFS1):c.1543TTC[1] (p.Phe516del) rs777904670
NM_006005.3(WFS1):c.1611_1624del (p.Cys537_Glu542delinsTer) rs1560419631
NM_006005.3(WFS1):c.1628T>G (p.Leu543Arg)
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1]) rs797046113
NM_006005.3(WFS1):c.1699_1704del (p.565LF[1])
NM_006005.3(WFS1):c.1846dup (p.Ala616fs)
NM_006005.3(WFS1):c.1990_1991del (p.Leu664fs)
NM_006005.3(WFS1):c.2069G>A (p.Cys690Tyr)
NM_006005.3(WFS1):c.2084G>T (p.Gly695Val) rs28937891
NM_006005.3(WFS1):c.2314_2315insT (p.Arg772fs)
NM_006005.3(WFS1):c.2321dup (p.Phe775fs)
NM_006005.3(WFS1):c.2336T>G (p.Val779Gly)
NM_006005.3(WFS1):c.2455_2502del (p.Gln819_Gly834del)
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro) rs104893883
NM_006005.3(WFS1):c.2643_2646del (p.Phe882fs) rs1560422383
NM_006005.3(WFS1):c.387G>A (p.Trp129Ter) rs764993824
NM_006005.3(WFS1):c.559C>T (p.Leu187Phe)
NM_006005.3(WFS1):c.568AAG[3] (p.Lys193del) rs752461187
NM_006005.3(WFS1):c.578dup (p.Gln194fs) rs779272128
NM_006005.3(WFS1):c.643C>T (p.Gln215Ter)
NM_006005.3(WFS1):c.911_914dup (p.Asp305_Met306insTer) rs863224264
NM_006005.3(WFS1):c.9dup (p.Asn4fs) rs2109107823
NM_006445.4(PRPF8):c.6926A>C (p.His2309Pro) rs121434236
NM_006899.5(IDH3B):c.107C>A (p.Ser36Ter)
NM_006899.5(IDH3B):c.1A>G (p.Met1Val) rs1366785022
NM_006899.5(IDH3B):c.551_554del (p.Glu184fs) rs767275467
NM_006899.5(IDH3B):c.571C>T (p.Arg191Ter)
NM_006899.5(IDH3B):c.667A>T (p.Lys223Ter)
NM_006899.5(IDH3B):c.700_703del (p.Glu234fs)
NM_006899.5(IDH3B):c.918_924del (p.Ala307fs)
NM_014249.4(NR2E3):c.1049A>G (p.Gln350Arg)
NM_014249.4(NR2E3):c.1112T>G (p.Leu371Trp)
NM_014249.4(NR2E3):c.16_47del (p.Thr6fs)
NM_014249.4(NR2E3):c.242A>G (p.Tyr81Cys)
NM_014249.4(NR2E3):c.263G>T (p.Gly88Val) rs1278137915
NM_014249.4(NR2E3):c.302_325del (p.Gln101_Cys108del)
NM_014249.4(NR2E3):c.532dup (p.Ile178fs)
NM_014714.4(IFT140):c.1009+1G>T
NM_014714.4(IFT140):c.1010-6_1013del
NM_014714.4(IFT140):c.1107G>A (p.Trp369Ter)
NM_014714.4(IFT140):c.1155+1G>A
NM_014714.4(IFT140):c.1158G>A (p.Trp386Ter)
NM_014714.4(IFT140):c.1229C>A (p.Ser410Ter)
NM_014714.4(IFT140):c.1288_1289dup (p.Phe431fs)
NM_014714.4(IFT140):c.1359+1G>C
NM_014714.4(IFT140):c.1359_1359+3delinsAC rs2141816540
NM_014714.4(IFT140):c.1432+1G>A
NM_014714.4(IFT140):c.1525-2_1525-1del
NM_014714.4(IFT140):c.1536_1539del (p.Lys512fs)
NM_014714.4(IFT140):c.1619T>A (p.Leu540Ter)
NM_014714.4(IFT140):c.1619dup (p.Leu540fs)
NM_014714.4(IFT140):c.166dup (p.Thr56fs)
NM_014714.4(IFT140):c.168_171del (p.His57fs)
NM_014714.4(IFT140):c.175G>T (p.Glu59Ter)
NM_014714.4(IFT140):c.1770+1G>A
NM_014714.4(IFT140):c.1823_1824del (p.Thr608fs)
NM_014714.4(IFT140):c.1944del (p.Pro648_Val649insTer)
NM_014714.4(IFT140):c.1963C>T (p.Gln655Ter)
NM_014714.4(IFT140):c.1968_1969delinsCT (p.Glu657Ter)
NM_014714.4(IFT140):c.2068-2A>G rs1489989834
NM_014714.4(IFT140):c.2400-13_2409del
NM_014714.4(IFT140):c.240G>A (p.Trp80Ter) rs1471379682
NM_014714.4(IFT140):c.2443C>T (p.Gln815Ter) rs2141185231
NM_014714.4(IFT140):c.2464del (p.Val822fs)
NM_014714.4(IFT140):c.2500C>T (p.Arg834Ter) rs777399400
NM_014714.4(IFT140):c.2548dup (p.Ala850fs)
NM_014714.4(IFT140):c.2577+25G>A rs1423102192
NM_014714.4(IFT140):c.2638C>T (p.Gln880Ter)
NM_014714.4(IFT140):c.2655del (p.Trp885fs) rs762111572
NM_014714.4(IFT140):c.2671del (p.Gln890_Val891insTer) rs2141179932
NM_014714.4(IFT140):c.2682delinsAA (p.His894fs)
NM_014714.4(IFT140):c.2769-1G>T
NM_014714.4(IFT140):c.2828_2829dup (p.Ser944fs)
NM_014714.4(IFT140):c.2864+1G>A
NM_014714.4(IFT140):c.2872_2875delinsGT (p.Trp958fs)
NM_014714.4(IFT140):c.2882G>A (p.Trp961Ter)
NM_014714.4(IFT140):c.2948del (p.Asp983fs) rs2141172226
NM_014714.4(IFT140):c.299del (p.Leu100fs)
NM_014714.4(IFT140):c.308_309del (p.Thr103fs)
NM_014714.4(IFT140):c.3192del (p.Glu1065fs) rs1567327347
NM_014714.4(IFT140):c.3219C>A (p.Tyr1073Ter)
NM_014714.4(IFT140):c.3222C>G (p.Tyr1074Ter)
NM_014714.4(IFT140):c.3250_3253dup (p.Val1085fs) rs766084603
NM_014714.4(IFT140):c.332G>A (p.Trp111Ter)
NM_014714.4(IFT140):c.3408_3409del (p.His1136fs) rs765669703
NM_014714.4(IFT140):c.3454-1G>A
NM_014714.4(IFT140):c.3484C>T (p.Gln1162Ter)
NM_014714.4(IFT140):c.370-2A>T
NM_014714.4(IFT140):c.3777del (p.Trp1259fs)
NM_014714.4(IFT140):c.390G>A (p.Trp130Ter)
NM_014714.4(IFT140):c.3963_3978del (p.Ser1321fs)
NM_014714.4(IFT140):c.3981del (p.Arg1328fs) rs1431530916
NM_014714.4(IFT140):c.4041-2A>G
NM_014714.4(IFT140):c.482dup (p.Pro162fs) rs763737398
NM_014714.4(IFT140):c.565del (p.Ser189fs)
NM_014714.4(IFT140):c.662del (p.Gly221fs)
NM_014714.4(IFT140):c.739del (p.Val247fs)
NM_014714.4(IFT140):c.742del (p.Val248fs)
NM_014714.4(IFT140):c.810+1G>A
NM_014714.4(IFT140):c.811-2A>G
NM_014714.4(IFT140):c.909G>A (p.Trp303Ter)
NM_014714.4(IFT140):c.919C>T (p.Arg307Ter) rs1307461796
NM_014714.4(IFT140):c.996C>G (p.Tyr332Ter)
NM_015404.4(WHRN):c.1417-1G>A rs779760634
NM_015404.4(WHRN):c.2236+2T>G
NM_015404.4(WHRN):c.2238del (p.Ala747fs)
NM_015404.4(WHRN):c.2345C>A (p.Ser782Ter) rs372472927
NM_015404.4(WHRN):c.2418+1G>A
NM_015404.4(WHRN):c.618+2del
NM_015404.4(WHRN):c.816_817delinsTT (p.Gln273Ter)
NM_015404.4(WHRN):c.856dup (p.Asp286fs) rs1064794551
NM_015629.4(PRPF31):c.239-1G>T rs2073798309
NM_015629.4(PRPF31):c.895T>C (p.Cys299Arg) rs2073926924
NM_015662.3(IFT172):c.1078del (p.Glu359_Val360insTer) rs1453282096
NM_015662.3(IFT172):c.1304del (p.Phe435fs)
NM_015662.3(IFT172):c.133G>T (p.Glu45Ter)
NM_015662.3(IFT172):c.1411+2T>C
NM_015662.3(IFT172):c.1525-2A>G
NM_015662.3(IFT172):c.1627C>T (p.Arg543Ter)
NM_015662.3(IFT172):c.1692+1G>A
NM_015662.3(IFT172):c.184-1G>A
NM_015662.3(IFT172):c.1846G>T (p.Glu616Ter)
NM_015662.3(IFT172):c.1871_1872del (p.Thr624fs)
NM_015662.3(IFT172):c.2074del (p.Glu692fs)
NM_015662.3(IFT172):c.2212A>T (p.Lys738Ter)
NM_015662.3(IFT172):c.2251C>T (p.Gln751Ter)
NM_015662.3(IFT172):c.2443-1G>C
NM_015662.3(IFT172):c.2456_2457del (p.Leu818_Phe819insTer)
NM_015662.3(IFT172):c.2584dup (p.Asp862fs)
NM_015662.3(IFT172):c.2629_2630dup (p.Ile878fs)
NM_015662.3(IFT172):c.2646C>A (p.Cys882Ter) rs1309394469
NM_015662.3(IFT172):c.2976-2A>T
NM_015662.3(IFT172):c.3111+1del
NM_015662.3(IFT172):c.3218_3223delinsTACCTGA (p.Glu1073fs)
NM_015662.3(IFT172):c.3880del (p.Arg1294fs)
NM_015662.3(IFT172):c.4224+1G>A
NM_015662.3(IFT172):c.4280G>A (p.Trp1427Ter)
NM_015662.3(IFT172):c.455_462dup (p.Val155fs)
NM_015662.3(IFT172):c.4789dup (p.Leu1597fs) rs2148467517
NM_015662.3(IFT172):c.4914+1G>A
NM_015662.3(IFT172):c.5044C>T (p.Arg1682Ter) rs1329856696
NM_015662.3(IFT172):c.786-2A>T
NM_015662.3(IFT172):c.978dup (p.Glu327Ter)
NM_016239.4(MYO15A):c.1318del (p.Asp440fs)
NM_016239.4(MYO15A):c.1374_1384del (p.Phe458fs)
NM_016239.4(MYO15A):c.1746del (p.Lys583fs)
NM_016239.4(MYO15A):c.2278dup (p.Ala760fs)
NM_016239.4(MYO15A):c.2384dup (p.Ser796fs) rs1567624190
NM_016239.4(MYO15A):c.2516del (p.Pro839fs)
NM_016239.4(MYO15A):c.2873del (p.Pro958fs) rs1217492313
NM_016239.4(MYO15A):c.28_31del (p.Lys10fs)
NM_016239.4(MYO15A):c.349_364del (p.Tyr117fs)
NM_016239.4(MYO15A):c.3610-2A>G
NM_016239.4(MYO15A):c.3742C>T (p.Arg1248Trp)
NM_016239.4(MYO15A):c.3832C>T (p.Gln1278Ter)
NM_016239.4(MYO15A):c.3866+1G>T
NM_016239.4(MYO15A):c.5504G>A (p.Arg1835His)
NM_016239.4(MYO15A):c.5911-2A>C
NM_016239.4(MYO15A):c.6011C>T (p.Pro2004Leu)
NM_016239.4(MYO15A):c.6457del (p.Ala2153fs)
NM_016239.4(MYO15A):c.6864_6874del (p.Asp2289fs) rs2142363190
NM_016239.4(MYO15A):c.699_700del (p.Glu234fs)
NM_016239.4(MYO15A):c.7405_7445del (p.Met2469fs)
NM_016239.4(MYO15A):c.7441_7442del (p.Leu2481fs)
NM_016239.4(MYO15A):c.7473+2T>G rs1475492059
NM_016239.4(MYO15A):c.7894G>T (p.Val2632Leu)
NM_016239.4(MYO15A):c.8147A>G (p.Gln2716Arg) rs756607995
NM_016239.4(MYO15A):c.8309_8311del (p.Glu2770del) rs1555546699
NM_016239.4(MYO15A):c.8457C>G (p.Tyr2819Ter)
NM_016239.4(MYO15A):c.8459+1G>A
NM_016239.4(MYO15A):c.8557C>T (p.Gln2853Ter)
NM_016239.4(MYO15A):c.9175del (p.Leu3059fs)
NM_016239.4(MYO15A):c.9788-1G>T
NM_016356.5(DCDC2):c.289_292del (p.Leu97fs)
NM_016356.5(DCDC2):c.38dup (p.Pro14fs)
NM_016356.5(DCDC2):c.604G>T (p.Glu202Ter)
NM_016356.5(DCDC2):c.970dup (p.Ala324fs) rs774115675
NM_017739.4(POMGNT1):c.1001_1002del (p.Thr334fs) rs1571659306
NM_017739.4(POMGNT1):c.1027-2_1027-1del rs1057516536
NM_017739.4(POMGNT1):c.1069C>T (p.Gln357Ter)
NM_017739.4(POMGNT1):c.1080del (p.Ile361fs) rs2148192392
NM_017739.4(POMGNT1):c.1284+1G>A
NM_017739.4(POMGNT1):c.1398G>A (p.Trp466Ter)
NM_017739.4(POMGNT1):c.1556del (p.Lys519fs) rs1176001640
NM_017739.4(POMGNT1):c.1566dup (p.Asn523fs)
NM_017739.4(POMGNT1):c.1605-1_1605delinsCG
NM_017739.4(POMGNT1):c.1650-2A>G
NM_017739.4(POMGNT1):c.1686T>A (p.Cys562Ter)
NM_017739.4(POMGNT1):c.1686dup (p.Glu563Ter) rs2148167494
NM_017739.4(POMGNT1):c.1694_1695del (p.Ser565fs) rs1057516903
NM_017739.4(POMGNT1):c.1785+1G>A rs2148166435
NM_017739.4(POMGNT1):c.1813C>A (p.Arg605Ser) rs886044567
NM_017739.4(POMGNT1):c.233_234del (p.Asp77_Tyr78insTer) rs1553164129
NM_017739.4(POMGNT1):c.296T>C (p.Leu99Pro)
NM_017739.4(POMGNT1):c.779_780del (p.Glu260fs)
NM_017739.4(POMGNT1):c.880-1G>C rs1317832573
NM_018006.5(TRMU):c.1019-1G>A rs773484808
NM_018006.5(TRMU):c.172_173dup (p.Arg59fs) rs2147853237
NM_018006.5(TRMU):c.173dup (p.Tyr58Ter)
NM_018006.5(TRMU):c.219C>A (p.Tyr73Ter)
NM_018006.5(TRMU):c.234G>A (p.Trp78Ter)
NM_018006.5(TRMU):c.287A>G (p.Asn96Ser)
NM_018006.5(TRMU):c.333dup (p.His112fs) rs756600903
NM_018006.5(TRMU):c.356-2_356-1del rs2147053913
NM_018006.5(TRMU):c.521C>T (p.Thr174Ile)
NM_018006.5(TRMU):c.564del (p.Ile189fs)
NM_018006.5(TRMU):c.581dup (p.Leu195fs)
NM_018006.5(TRMU):c.697C>T (p.Leu233Phe)
NM_018006.5(TRMU):c.772+2T>G rs2147096093
NM_018006.5(TRMU):c.773-2A>G
NM_018006.5(TRMU):c.87C>G (p.Tyr29Ter) rs769668643
NM_018006.5(TRMU):c.880_898del (p.Arg294fs) rs774153227
NM_018006.5(TRMU):c.882del (p.Thr295fs)
NM_018006.5(TRMU):c.903C>A (p.Tyr301Ter)
NM_018418.5(SPATA7):c.1199_1203del (p.Asn400fs) rs1436269510
NM_019098.5(CNGB3):c.1005dup (p.Glu336Ter) rs1554611860
NM_019098.5(CNGB3):c.1055+2T>G
NM_019098.5(CNGB3):c.105_114del (p.Gln36fs) rs1586047969
NM_019098.5(CNGB3):c.127C>T (p.Gln43Ter)
NM_019098.5(CNGB3):c.129+1G>A
NM_019098.5(CNGB3):c.1480+1G>A rs1057516825
NM_019098.5(CNGB3):c.1516del (p.Val506fs) rs768735888
NM_019098.5(CNGB3):c.1662+2T>C
NM_019098.5(CNGB3):c.1663-5T>G rs964530890
NM_019098.5(CNGB3):c.1870del (p.Leu624fs)
NM_019098.5(CNGB3):c.1929-2A>G rs1057517388
NM_019098.5(CNGB3):c.2103+1G>A rs1554604767
NM_019098.5(CNGB3):c.2103+1G>T
NM_019098.5(CNGB3):c.2143G>T (p.Glu715Ter)
NM_019098.5(CNGB3):c.2164G>T (p.Glu722Ter)
NM_019098.5(CNGB3):c.2179_2182del (p.Gln727fs) rs1821654702
NM_019098.5(CNGB3):c.2221del (p.Asp741fs) rs1554604552
NM_019098.5(CNGB3):c.2301_2304dup (p.Ser769fs) rs199570140
NM_019098.5(CNGB3):c.238G>T (p.Gly80Ter)
NM_019098.5(CNGB3):c.412del (p.Arg138fs) rs1057516791
NM_019098.5(CNGB3):c.494-1G>A
NM_019098.5(CNGB3):c.643+1G>A
NM_019098.5(CNGB3):c.662G>A (p.Trp221Ter)
NM_019098.5(CNGB3):c.798T>G (p.Tyr266Ter)
NM_019098.5(CNGB3):c.839dup (p.Gly281fs) rs1281085210
NM_020366.4(RPGRIP1):c.14_29dup (p.Asp11fs) rs1181453325
NM_020366.4(RPGRIP1):c.1583_1596del (p.Leu528fs)
NM_020366.4(RPGRIP1):c.1612-2A>G
NM_020366.4(RPGRIP1):c.2236G>A (p.Gly746Arg)
NM_020366.4(RPGRIP1):c.2386del (p.Glu796fs)
NM_020366.4(RPGRIP1):c.2795dup (p.Pro932_Glu933insTer)
NM_020366.4(RPGRIP1):c.326G>A (p.Trp109Ter)
NM_020366.4(RPGRIP1):c.410dup (p.Arg138fs)
NM_021615.5(CHST6):c.1020del (p.Lys341fs)
NM_021615.5(CHST6):c.1089dup (p.Glu364Ter)
NM_021615.5(CHST6):c.369G>A (p.Trp123Ter)
NM_021615.5(CHST6):c.382G>A (p.Ala128Thr)
NM_021615.5(CHST6):c.392C>A (p.Ser131Ter)
NM_021615.5(CHST6):c.487dup (p.Glu163fs)
NM_021615.5(CHST6):c.495C>A (p.Cys165Ter)
NM_021615.5(CHST6):c.529C>T (p.Arg177Cys)
NM_021615.5(CHST6):c.52C>T (p.Gln18Ter)
NM_021615.5(CHST6):c.557C>G (p.Pro186Arg)
NM_021615.5(CHST6):c.609C>G (p.Asp203Glu)
NM_021615.5(CHST6):c.698_722del (p.Val233fs)
NM_021615.5(CHST6):c.69_70del (p.Phe24fs)
NM_021615.5(CHST6):c.740del (p.Arg247fs)
NM_021615.5(CHST6):c.805del (p.Arg269fs)
NM_021615.5(CHST6):c.820G>T (p.Glu274Ter)
NM_021615.5(CHST6):c.826_827del (p.Leu276fs)
NM_021615.5(CHST6):c.847_848delinsTG (p.Glu283Ter) rs2151665554
NM_022124.6(CDH23):c.1143_1176del rs764949139
NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg)
NM_022124.6(CDH23):c.1395C>A (p.Tyr465Ter)
NM_022124.6(CDH23):c.145+1G>T rs1850169561
NM_022124.6(CDH23):c.2323del (p.His775fs)
NM_022124.6(CDH23):c.2419del (p.Leu807fs)
NM_022124.6(CDH23):c.2476del (p.Leu826fs)
NM_022124.6(CDH23):c.2587+1G>T
NM_022124.6(CDH23):c.2730C>G (p.Tyr910Ter)
NM_022124.6(CDH23):c.289-1G>C
NM_022124.6(CDH23):c.2954-2A>G
NM_022124.6(CDH23):c.3247_3248del (p.Thr1083fs)
NM_022124.6(CDH23):c.337-2A>G
NM_022124.6(CDH23):c.3619del (p.Val1207fs)
NM_022124.6(CDH23):c.4102_4103delinsTATCTTGAA (p.Thr1368fs)
NM_022124.6(CDH23):c.4105-1G>A
NM_022124.6(CDH23):c.4105-4_4105-2delinsTCT rs1589384283
NM_022124.6(CDH23):c.4594_4597del (p.Gly1532fs)
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp) rs137937502
NM_022124.6(CDH23):c.5101G>A (p.Glu1701Lys)
NM_022124.6(CDH23):c.5256dup (p.Glu1753Ter)
NM_022124.6(CDH23):c.5272C>T (p.Gln1758Ter) rs397517337
NM_022124.6(CDH23):c.5300_5303dup (p.His1769fs) rs2132929769
NM_022124.6(CDH23):c.5434G>T (p.Glu1812Ter)
NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys) rs1060499789
NM_022124.6(CDH23):c.6083A>C (p.Asp2028Ala) rs762226905
NM_022124.6(CDH23):c.6254-12_6258del
NM_022124.6(CDH23):c.6254-2A>C
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn) rs121908349
NM_022124.6(CDH23):c.6712+1G>A rs1554874900
NM_022124.6(CDH23):c.6831del (p.Lys2278fs) rs1200012430
NM_022124.6(CDH23):c.6973A>T (p.Lys2325Ter)
NM_022124.6(CDH23):c.7033C>T (p.Gln2345Ter)
NM_022124.6(CDH23):c.7225del
NM_022124.6(CDH23):c.7557T>G (p.Tyr2519Ter)
NM_022124.6(CDH23):c.7987TTC[1] (p.Phe2664del) rs774559018
NM_022124.6(CDH23):c.8191C>T (p.Gln2731Ter)
NM_022124.6(CDH23):c.8287_8290del (p.Ile2763fs)
NM_022124.6(CDH23):c.8308+1G>A rs757675676
NM_022124.6(CDH23):c.833-1G>A
NM_022124.6(CDH23):c.8352del (p.Leu2785fs)
NM_022124.6(CDH23):c.918C>G (p.Tyr306Ter)
NM_022124.6(CDH23):c.9198+2T>A rs1841921374
NM_022124.6(CDH23):c.9199-4G>A rs369900526
NM_022124.6(CDH23):c.9207dup (p.Ile3070fs)
NM_022124.6(CDH23):c.9254del (p.Leu3085fs) rs773926246
NM_022124.6(CDH23):c.9280_9286del rs2133002929
NM_022124.6(CDH23):c.9381-2A>G
NM_022124.6(CDH23):c.9511-2A>C
NM_022124.6(CDH23):c.9634-1G>A
NM_022726.4(ELOVL4):c.512T>C (p.Ile171Thr) rs1554162301
NM_025114.4(CEP290):c.102+2T>G rs763226787
NM_025114.4(CEP290):c.1042del (p.Ser348fs)
NM_025114.4(CEP290):c.1060C>T (p.Gln354Ter) rs2138021345
NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs) rs897997464
NM_025114.4(CEP290):c.1258dup (p.Thr420fs) rs868650061
NM_025114.4(CEP290):c.1274_1275del (p.Arg425fs)
NM_025114.4(CEP290):c.1359+1G>A rs935130451
NM_025114.4(CEP290):c.1360-1G>C
NM_025114.4(CEP290):c.1451del (p.Lys484fs) rs386834149
NM_025114.4(CEP290):c.1521_1522+2dup
NM_025114.4(CEP290):c.1624-1G>C
NM_025114.4(CEP290):c.1711G>T (p.Gly571Ter)
NM_025114.4(CEP290):c.1750del (p.Ser584fs) rs780954447
NM_025114.4(CEP290):c.175dup (p.Met59fs)
NM_025114.4(CEP290):c.1775del (p.Arg592fs)
NM_025114.4(CEP290):c.1790T>A (p.Leu597Ter)
NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter) rs1555220625
NM_025114.4(CEP290):c.2052+1G>A
NM_025114.4(CEP290):c.2139_2148del (p.Glu713fs)
NM_025114.4(CEP290):c.2194C>T (p.Gln732Ter)
NM_025114.4(CEP290):c.223A>G (p.Lys75Glu) rs779010679
NM_025114.4(CEP290):c.2267C>A (p.Ser756Ter)
NM_025114.4(CEP290):c.2268_2284del (p.Asn757_Val758insTer)
NM_025114.4(CEP290):c.2483+1G>A rs2137661795
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs) rs1221464366
NM_025114.4(CEP290):c.2632del (p.Ile878fs) rs1404507934
NM_025114.4(CEP290):c.2719G>T (p.Glu907Ter)
NM_025114.4(CEP290):c.2737_2741del (p.Lys912_Glu913insTer)
NM_025114.4(CEP290):c.274_280del (p.Met92fs) rs2138258171
NM_025114.4(CEP290):c.2854del (p.Val952fs)
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter) rs1057518822
NM_025114.4(CEP290):c.2992-1G>T
NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter) rs2137423759
NM_025114.4(CEP290):c.3085del (p.Glu1029fs)
NM_025114.4(CEP290):c.3200T>A (p.Leu1067Ter)
NM_025114.4(CEP290):c.3240T>A (p.Tyr1080Ter) rs886042467
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter) rs886042467
NM_025114.4(CEP290):c.3285del (p.Phe1095fs) rs1017496924
NM_025114.4(CEP290):c.3290dup (p.Leu1097fs)
NM_025114.4(CEP290):c.3377_3378dup (p.Ser1127Ter)
NM_025114.4(CEP290):c.341del (p.Arg114fs)
NM_025114.4(CEP290):c.3488_3494dup (p.Val1166fs) rs2036977719
NM_025114.4(CEP290):c.3577C>T (p.Gln1193Ter)
NM_025114.4(CEP290):c.3589A>T (p.Lys1197Ter)
NM_025114.4(CEP290):c.369del (p.Gln123fs) rs773622064
NM_025114.4(CEP290):c.3736G>T (p.Glu1246Ter)
NM_025114.4(CEP290):c.3739C>T (p.Gln1247Ter)
NM_025114.4(CEP290):c.3911_3915del (p.Met1304fs)
NM_025114.4(CEP290):c.4092del (p.Glu1364fs)
NM_025114.4(CEP290):c.4195-2del
NM_025114.4(CEP290):c.441+1G>A
NM_025114.4(CEP290):c.442-1G>A
NM_025114.4(CEP290):c.4621del (p.Thr1541fs) rs587779733
NM_025114.4(CEP290):c.4677T>G (p.Tyr1559Ter) rs2137182509
NM_025114.4(CEP290):c.4695del (p.Ala1566fs)
NM_025114.4(CEP290):c.4714_4715del (p.Glu1572fs)
NM_025114.4(CEP290):c.4737del (p.Asp1580fs) rs1304430926
NM_025114.4(CEP290):c.4834_4835del (p.Thr1612fs) rs1207944612
NM_025114.4(CEP290):c.4855dup (p.His1619fs)
NM_025114.4(CEP290):c.4943C>G (p.Ser1648Ter)
NM_025114.4(CEP290):c.4957A>T (p.Arg1653Ter)
NM_025114.4(CEP290):c.4983del (p.Lys1661_Val1662insTer) rs879447211
NM_025114.4(CEP290):c.5073del (p.Lys1691fs)
NM_025114.4(CEP290):c.5125C>T (p.Gln1709Ter)
NM_025114.4(CEP290):c.516+1G>A
NM_025114.4(CEP290):c.5235_5238del (p.Ser1745fs) rs775969711
NM_025114.4(CEP290):c.5364+1G>A
NM_025114.4(CEP290):c.5441_5444del (p.Asn1813_Ser1814insTer)
NM_025114.4(CEP290):c.5482_5483del (p.Lys1828fs)
NM_025114.4(CEP290):c.5586+1G>T rs2035880971
NM_025114.4(CEP290):c.5659C>T (p.Gln1887Ter)
NM_025114.4(CEP290):c.5709+2T>G
NM_025114.4(CEP290):c.5710-2A>G
NM_025114.4(CEP290):c.5735G>A (p.Trp1912Ter)
NM_025114.4(CEP290):c.5754G>A (p.Trp1918Ter)
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter) rs561598805
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro) rs778030031
NM_025114.4(CEP290):c.5788_5792del (p.Lys1930fs) rs2035400071
NM_025114.4(CEP290):c.583_584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.5881C>T (p.Gln1961Ter)
NM_025114.4(CEP290):c.5909_5910dup (p.Val1971fs)
NM_025114.4(CEP290):c.6084_6085del (p.Lys2028fs) rs2136911405
NM_025114.4(CEP290):c.6270+1G>A
NM_025114.4(CEP290):c.6271-1G>A rs2034579709
NM_025114.4(CEP290):c.6357+1G>A rs1196938557
NM_025114.4(CEP290):c.6358-2A>C
NM_025114.4(CEP290):c.6397dup (p.Thr2133fs)
NM_025114.4(CEP290):c.6400_6403dup (p.Gly2135fs)
NM_025114.4(CEP290):c.6417del (p.Lys2139_Val2140insTer)
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs) rs1364945778
NM_025114.4(CEP290):c.6514A>T (p.Lys2172Ter)
NM_025114.4(CEP290):c.6516del (p.Lys2172fs) rs1057519165
NM_025114.4(CEP290):c.6818_6818+1dup rs1060499781
NM_025114.4(CEP290):c.6960+1G>A
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer) rs781310385
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter) rs1478582091
NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs) rs763762899
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs) rs2033254449
NM_025114.4(CEP290):c.7256del (p.Ser2419fs)
NM_025114.4(CEP290):c.725del (p.Asn242fs)
NM_025114.4(CEP290):c.7263del (p.Phe2421fs)
NM_025114.4(CEP290):c.7263dup (p.Glu2422Ter) rs1219184437
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter) rs773642187
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter) rs45502896
NM_025114.4(CEP290):c.829_833del (p.Glu277fs)
NM_025114.4(CEP290):c.852del (p.Val285fs)
NM_025114.4(CEP290):c.992del (p.Leu331fs)
NM_031885.5(BBS2):c.118-2A>G
NM_031885.5(BBS2):c.1269del (p.Phe423fs)
NM_031885.5(BBS2):c.1397+1G>A rs1225299095
NM_031885.5(BBS2):c.1398-9_1410dup
NM_031885.5(BBS2):c.1493_1496del (p.Tyr498fs)
NM_031885.5(BBS2):c.1574dup (p.His525fs)
NM_031885.5(BBS2):c.1649_1650del (p.Leu550fs) rs750146549
NM_031885.5(BBS2):c.184dup (p.Leu62fs)
NM_031885.5(BBS2):c.1931dup (p.Tyr644Ter) rs1963758780
NM_031885.5(BBS2):c.198_199del (p.Leu68fs)
NM_031885.5(BBS2):c.217C>T (p.Gln73Ter) rs199940492
NM_031885.5(BBS2):c.254del (p.Pro85fs)
NM_031885.5(BBS2):c.255del (p.Glu86fs) rs2144193104
NM_031885.5(BBS2):c.269A>G (p.Asp90Gly) rs1228731722
NM_031885.5(BBS2):c.344_345del (p.Glu115fs)
NM_031885.5(BBS2):c.345+1G>A
NM_031885.5(BBS2):c.406dup (p.Ala136fs)
NM_031885.5(BBS2):c.416G>A (p.Gly139Asp)
NM_031885.5(BBS2):c.472-2A>C
NM_031885.5(BBS2):c.472del rs587777826
NM_031885.5(BBS2):c.717+1G>T
NM_031885.5(BBS2):c.774del (p.Asn258fs) rs777218224
NM_031885.5(BBS2):c.816_817del (p.Arg272_Ser273insTer)
NM_031885.5(BBS2):c.856del (p.Ser286fs)
NM_031885.5(BBS2):c.940+1G>A
NM_031885.5(BBS2):c.944G>A (p.Arg315Gln) rs544773389
NM_033056.4(PCDH15):c.4368-2A>T rs989521806
NM_033056.4(PCDH15):c.4368-7_4374del
NM_033056.4(PCDH15):c.4403_4407dup (p.Asn1470fs)
NM_033056.4(PCDH15):c.4409_4413del (p.Asn1470fs) rs749884609
NM_033056.4(PCDH15):c.4409_4413dup (p.Val1472fs) rs749884609
NM_033056.4(PCDH15):c.4410_4420del (p.Asn1470fs) rs767621707
NM_033056.4(PCDH15):c.4411_4412del (p.Val1472fs)
NM_033056.4(PCDH15):c.4411_4412dup (p.Val1472fs) rs2132512042
NM_033056.4(PCDH15):c.4467_4497dup (p.Gly1500delinsTyrTer)
NM_033056.4(PCDH15):c.4523_4526dup (p.Ala1510fs) rs1554820966
NM_033056.4(PCDH15):c.4548_4551del (p.Ser1517fs) rs1233449433
NM_033056.4(PCDH15):c.4548_4551dup (p.Asp1518delinsIleTer) rs1233449433
NM_033056.4(PCDH15):c.4566_4569dup (p.Ala1524fs) rs2132508767
NM_033056.4(PCDH15):c.4596_4600dup (p.Ser1534delinsThrTer) rs2132508266
NM_033056.4(PCDH15):c.4681_4684dup (p.Ser1562Ter) rs730880357
NM_033056.4(PCDH15):c.4865_4871dup (p.Leu1625fs)
NM_033056.4(PCDH15):c.5481C>A (p.Cys1827Ter)
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604
NM_033629.6(TREX1):c.152_153del (p.Gln51fs) rs773808155
NM_033629.6(TREX1):c.236_243dup (p.Ser82fs) rs1331920811
NM_033629.6(TREX1):c.23dup (p.Pro10fs) rs781731683
NM_033629.6(TREX1):c.294_296dup (p.Cys99Ter)
NM_033629.6(TREX1):c.294dup (p.Cys99fs) rs760594164
NM_033629.6(TREX1):c.375dup (p.Gly126fs) rs1575292873
NM_033629.6(TREX1):c.599_601dup (p.Asp200dup) rs74556809
NM_033629.6(TREX1):c.703del (p.Val235fs)
NM_080680.3(COL11A2):c.129_132dup (p.Asp45delinsProTer)
NM_080680.3(COL11A2):c.2062G>A (p.Gly688Arg)
NM_080680.3(COL11A2):c.2215G>A (p.Gly739Ser)
NM_080680.3(COL11A2):c.2567G>A (p.Gly856Glu)
NM_080680.3(COL11A2):c.2589dup (p.Ser864fs)
NM_080680.3(COL11A2):c.2734_2736+14del
NM_080680.3(COL11A2):c.3142G>A (p.Gly1048Ser) rs1057524643
NM_080680.3(COL11A2):c.3295G>C (p.Gly1099Arg)
NM_080680.3(COL11A2):c.3329dup (p.Gly1111fs)
NM_080680.3(COL11A2):c.3746G>A (p.Gly1249Glu)
NM_080680.3(COL11A2):c.3827G>C (p.Gly1276Ala)
NM_080680.3(COL11A2):c.4081A>T (p.Lys1361Ter)
NM_080680.3(COL11A2):c.4142G>A (p.Gly1381Glu)
NM_080680.3(COL11A2):c.4798C>T (p.Arg1600Ter)
NM_138691.3(TMC1):c.115A>T (p.Arg39Ter)
NM_138691.3(TMC1):c.1166G>A (p.Arg389Gln)
NM_138691.3(TMC1):c.1299C>G (p.Tyr433Ter)
NM_138691.3(TMC1):c.1405-2A>T
NM_138691.3(TMC1):c.2030T>C (p.Ile677Thr)
NM_138691.3(TMC1):c.2050G>A (p.Asp684Asn) rs563322370
NM_138691.3(TMC1):c.2050G>C (p.Asp684His)
NM_138691.3(TMC1):c.643-2A>G
NM_144596.4(TTC8):c.293del (p.Gly98fs) rs1271312946
NM_144596.4(TTC8):c.340C>T (p.Gln114Ter)
NM_144596.4(TTC8):c.456dup (p.Ser153fs)
NM_144596.4(TTC8):c.502dup (p.Thr168fs)
NM_144596.4(TTC8):c.580-2A>G
NM_144596.4(TTC8):c.624+1_624+2del
NM_144596.4(TTC8):c.747del (p.Lys249fs)
NM_144596.4(TTC8):c.798+1G>A
NM_144672.4(OTOA):c.1104+2T>C
NM_144672.4(OTOA):c.1265G>T (p.Gly422Val) rs200689333
NM_148960.3(CLDN19):c.140_141del (p.Leu46_Tyr47insTer)
NM_148960.3(CLDN19):c.178_182delinsCCC (p.Gly60fs)
NM_148960.3(CLDN19):c.223+1G>A
NM_148960.3(CLDN19):c.263_270dup (p.Gly91fs)
NM_152419.3(HGSNAT):c.1051C>T (p.Arg351Ter) rs756420301
NM_152419.3(HGSNAT):c.1170del (p.Trp390fs) rs748387885
NM_152419.3(HGSNAT):c.119-2A>C
NM_152419.3(HGSNAT):c.1270G>A (p.Gly424Ser) rs747616932
NM_152419.3(HGSNAT):c.1466C>A (p.Ala489Glu) rs1554537586
NM_152419.3(HGSNAT):c.1565_1577del (p.Thr522fs)
NM_152419.3(HGSNAT):c.164T>A (p.Leu55Ter) rs1586698317
NM_152419.3(HGSNAT):c.208dup (p.Tyr70fs)
NM_152419.3(HGSNAT):c.272del (p.Pro91fs) rs1803166641
NM_152419.3(HGSNAT):c.321_324dup (p.Ser109fs)
NM_152419.3(HGSNAT):c.494-2A>G
NM_152419.3(HGSNAT):c.61dup (p.Ala21fs)
NM_152419.3(HGSNAT):c.65del (p.Leu22fs)
NM_152419.3(HGSNAT):c.698dup (p.Ser234fs)
NM_152419.3(HGSNAT):c.852G>A (p.Trp284Ter)
NM_152443.3(RDH12):c.148G>A (p.Gly50Ser) rs2140141345
NM_152443.3(RDH12):c.16G>T (p.Gly6Ter)
NM_152443.3(RDH12):c.440A>C (p.Asn147Thr) rs1566847499
NM_152443.3(RDH12):c.659-2A>T rs2038231425
NM_152443.3(RDH12):c.661_666delinsCCTCTTT (p.Thr221fs)
NM_152443.3(RDH12):c.680_684delinsT (p.Ala227fs)
NM_152443.3(RDH12):c.693_694insACTGCGTCCGCTCTGAGCTGGC (p.Val232fs)
NM_152443.3(RDH12):c.697G>A (p.Val233Ile) rs140257538
NM_152443.3(RDH12):c.716G>A (p.Arg239Gln) rs1239043055
NM_152443.3(RDH12):c.848+2T>C rs878853338
NM_152443.3(RDH12):c.910T>C (p.Trp304Arg) rs878853339
NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer) rs1554960390
NM_153676.4(USH1C):c.1144G>T (p.Glu382Ter)
NM_153676.4(USH1C):c.2217dup (p.Tyr740fs)
NM_153676.4(USH1C):c.2371G>T (p.Glu791Ter)
NM_153676.4(USH1C):c.2381-7_2381del
NM_153676.4(USH1C):c.2490+1del rs1366154374
NM_153676.4(USH1C):c.388-1G>A rs1364331716
NM_153676.4(USH1C):c.491_492del (p.Val164fs) rs1850741468
NM_153676.4(USH1C):c.580-2A>T rs1850678559
NM_153676.4(USH1C):c.711del (p.Phe237fs)
NM_153676.4(USH1C):c.876+2_876+19del
NM_153676.4(USH1C):c.878_882delinsA (p.Gly293fs)
NM_153676.4(USH1C):c.912_934dup (p.Leu312fs)
NM_172240.3(POC1B):c.1032+1G>A
NM_172240.3(POC1B):c.1054del (p.Ile352fs)
NM_172240.3(POC1B):c.453-7_453-2del rs1882929478
NM_172240.3(POC1B):c.750dup (p.Thr251fs)
NM_174878.3(CLRN1):c.253+6T>C
NM_174878.3(CLRN1):c.502dup (p.Ile168fs) rs746523071
NM_174878.3(CLRN1):c.528T>A (p.Tyr176Ter)
NM_174878.3(CLRN1):c.541C>T (p.Gln181Ter) rs376155416
NM_174878.3(CLRN1):c.569G>A (p.Trp190Ter)
NM_174878.3(CLRN1):c.578del (p.Phe193fs) rs1231668679
NM_174878.3(CLRN1):c.64dup (p.Leu22fs)
NM_174916.3(UBR1):c.1396C>T (p.Gln466Ter)
NM_174916.3(UBR1):c.1830dup (p.Leu611fs)
NM_174916.3(UBR1):c.1876_1882del (p.Gly626fs)
NM_174916.3(UBR1):c.529-13G>A rs1265375100
NM_177965.4(CFAP418):c.177del (p.Glu60fs) rs1811931460
NM_194248.3(OTOF):c.1172del (p.Lys391fs) rs483353050
NM_194248.3(OTOF):c.5800dup (p.Leu1934fs) rs397515609
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr) rs62645754
NM_201253.3(CRB1):c.1172-1G>A
NM_201253.3(CRB1):c.1313G>A (p.Cys438Tyr) rs1571522690
NM_201253.3(CRB1):c.1360G>A (p.Gly454Arg)
NM_201253.3(CRB1):c.1405T>G (p.Cys469Gly)
NM_201253.3(CRB1):c.1445_1453del (p.Ile482_Thr484del) rs780580887
NM_201253.3(CRB1):c.1651C>T (p.Gln551Ter) rs768107603
NM_201253.3(CRB1):c.1690G>T (p.Asp564Tyr)
NM_201253.3(CRB1):c.1743_1755dup (p.Ser586fs) rs751935649
NM_201253.3(CRB1):c.1881_1885dup (p.Asn629fs)
NM_201253.3(CRB1):c.2129-1G>A
NM_201253.3(CRB1):c.2258T>C (p.Leu753Pro) rs896160584
NM_201253.3(CRB1):c.2272A>T (p.Ser758Cys) rs201700675
NM_201253.3(CRB1):c.2425C>T (p.Gln809Ter) rs1571540037
NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser) rs910489135
NM_201253.3(CRB1):c.2677-2A>G
NM_201253.3(CRB1):c.2816G>A (p.Cys939Tyr)
NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val) rs369184026
NM_201253.3(CRB1):c.3037C>T (p.Gln1013Ter) rs143511261
NM_201253.3(CRB1):c.3055_3057delinsGCAATTGACA (p.Tyr1019fs)
NM_201253.3(CRB1):c.3296del (p.Thr1099fs)
NM_201253.3(CRB1):c.3299T>G (p.Ile1100Arg) rs62635659
NM_201253.3(CRB1):c.3375del (p.Leu1126fs)
NM_201253.3(CRB1):c.358C>T (p.Gln120Ter) rs1658671768
NM_201253.3(CRB1):c.3621del (p.Gly1208fs)
NM_201253.3(CRB1):c.3652T>A (p.Cys1218Ser)
NM_201253.3(CRB1):c.3896del (p.Asp1299fs) rs2125513602
NM_201253.3(CRB1):c.3926del (p.Gly1309fs)
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly) rs62635649
NM_201253.3(CRB1):c.4182G>A (p.Trp1394Ter)
NM_201253.3(CRB1):c.4207G>C (p.Glu1403Gln) rs1667269806
NM_201253.3(CRB1):c.441_444del (p.Asp148fs) rs1571848688
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_201253.3(CRB1):c.57dup (p.Ile20fs) rs1343680080
NM_201253.3(CRB1):c.652+1G>A rs2125304900
NM_201548.5(CERKL):c.1133+2del rs1157880126
NM_201548.5(CERKL):c.1160-1del
NM_201548.5(CERKL):c.1389_1392del (p.Tyr464fs) rs1026405158
NM_201548.5(CERKL):c.1546_1565dup (p.Gly523fs) rs1064797278
NM_201548.5(CERKL):c.1557_1566del (p.Ile519fs)
NM_201548.5(CERKL):c.237_238+13del rs746128841
NM_201548.5(CERKL):c.287_302del (p.Lys96fs)
NM_201548.5(CERKL):c.316C>A (p.Arg106Ser) rs569826109
NM_201548.5(CERKL):c.316C>T (p.Arg106Cys) rs569826109
NM_201548.5(CERKL):c.397_401del (p.Leu133fs) rs1457373962
NM_201548.5(CERKL):c.428T>A (p.Leu143Ter)
NM_201548.5(CERKL):c.677+562del rs2105832223
NM_201548.5(CERKL):c.760G>T (p.Glu254Ter) rs1688308445
NM_201548.5(CERKL):c.826_827del (p.Thr276fs)
NM_201548.5(CERKL):c.884_895+10del
NM_201548.5(CERKL):c.896-2A>T rs2105804184
NM_201548.5(CERKL):c.98T>G (p.Leu33Ter) rs769632183
NM_205861.3(DHDDS):c.665_668del (p.His222fs)
NM_205861.3(DHDDS):c.802C>T (p.Gln268Ter) rs1180408059
NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs) rs774573692
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly) rs397517963
NM_206933.4(USH2A):c.10182+2T>G
NM_206933.4(USH2A):c.10350_10354del (p.Ile3451fs)
NM_206933.4(USH2A):c.10385C>T (p.Thr3462Ile) rs1416602859
NM_206933.4(USH2A):c.10388-2A>G rs1553261479
NM_206933.4(USH2A):c.10586-1G>A
NM_206933.4(USH2A):c.10817T>C (p.Leu3606Pro)
NM_206933.4(USH2A):c.1090C>T (p.Gln364Ter)
NM_206933.4(USH2A):c.10939+2T>G
NM_206933.4(USH2A):c.11095G>T (p.Glu3699Ter) rs755804518
NM_206933.4(USH2A):c.11156G>T (p.Arg3719Leu) rs527236139
NM_206933.4(USH2A):c.11189del (p.Glu3730fs) rs1660922779
NM_206933.4(USH2A):c.11389+1del rs1414935620
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs) rs779791079
NM_206933.4(USH2A):c.12274del (p.Arg4092fs) rs1558051141
NM_206933.4(USH2A):c.1236G>C (p.Trp412Cys) rs757525434
NM_206933.4(USH2A):c.12447G>A (p.Trp4149Ter)
NM_206933.4(USH2A):c.12602del (p.Gly4201fs) rs1553252499
NM_206933.4(USH2A):c.1312_1327dup (p.Asn443fs) rs1415157305
NM_206933.4(USH2A):c.13210del (p.Leu4404fs) rs1190020491
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_206933.4(USH2A):c.13598C>A (p.Ser4533Ter)
NM_206933.4(USH2A):c.13812-1G>A rs199782530
NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val) rs527236124
NM_206933.4(USH2A):c.14110_14111del (p.Pro4704fs)
NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe) rs527236126
NM_206933.4(USH2A):c.14289del (p.Ile4764fs) rs2102644832
NM_206933.4(USH2A):c.14409_14437del (p.Ile4803fs)
NM_206933.4(USH2A):c.14583-1G>T
NM_206933.4(USH2A):c.14698C>T (p.Gln4900Ter) rs1553250072
NM_206933.4(USH2A):c.14968+2T>G rs1656640356
NM_206933.4(USH2A):c.14969-1G>T
NM_206933.4(USH2A):c.15216T>A (p.Tyr5072Ter)
NM_206933.4(USH2A):c.15260_15263dup (p.Leu5089fs)
NM_206933.4(USH2A):c.15371del (p.Leu5124fs) rs1656163649
NM_206933.4(USH2A):c.15380C>T (p.Pro5127Leu) rs201513512
NM_206933.4(USH2A):c.15439C>T (p.Gln5147Ter)
NM_206933.4(USH2A):c.1551-1G>A
NM_206933.4(USH2A):c.1571C>A (p.Ala524Asp)
NM_206933.4(USH2A):c.1606T>A (p.Cys536Ser) rs111033273
NM_206933.4(USH2A):c.1645-2A>C
NM_206933.4(USH2A):c.1841-1G>A rs2102606531
NM_206933.4(USH2A):c.1841-1G>T
NM_206933.4(USH2A):c.1971+1G>T rs2036950570
NM_206933.4(USH2A):c.2149T>G (p.Cys717Gly)
NM_206933.4(USH2A):c.2810-1G>A rs778336512
NM_206933.4(USH2A):c.298del (p.Leu100fs)
NM_206933.4(USH2A):c.2994-1G>C
NM_206933.4(USH2A):c.3004del (p.Cys1002fs) rs1572060089
NM_206933.4(USH2A):c.3005G>C (p.Cys1002Ser) rs1572060087
NM_206933.4(USH2A):c.3317-1G>A rs1553313909
NM_206933.4(USH2A):c.3334_3336delinsTGGTA (p.Asp1112fs)
NM_206933.4(USH2A):c.3406A>G (p.Ser1136Gly) rs2034947671
NM_206933.4(USH2A):c.3558del (p.Cys1186fs) rs397518014
NM_206933.4(USH2A):c.3589del (p.Ser1197fs) rs1553313810
NM_206933.4(USH2A):c.3648C>A (p.Tyr1216Ter)
NM_206933.4(USH2A):c.387del (p.Phe129fs) rs1484339054
NM_206933.4(USH2A):c.3959del (p.Pro1320fs)
NM_206933.4(USH2A):c.4037_4038insC (p.Ser1347fs)
NM_206933.4(USH2A):c.4251G>T (p.Gln1417His) rs2102460239
NM_206933.4(USH2A):c.4252-1G>A
NM_206933.4(USH2A):c.4253del (p.Leu1418fs)
NM_206933.4(USH2A):c.4601_4604delinsGT (p.Thr1534fs)
NM_206933.4(USH2A):c.4758+1del rs2102572705
NM_206933.4(USH2A):c.4987G>T (p.Glu1663Ter)
NM_206933.4(USH2A):c.4988-1G>C
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.4(USH2A):c.5083del (p.Ser1695fs) rs1553300016
NM_206933.4(USH2A):c.5447T>G (p.Val1816Gly) rs777011507
NM_206933.4(USH2A):c.5528C>T (p.Pro1843Leu) rs200209833
NM_206933.4(USH2A):c.5759del (p.Gly1920fs)
NM_206933.4(USH2A):c.5776G>A (p.Glu1926Lys)
NM_206933.4(USH2A):c.5835_5836dup (p.Arg1946fs) rs1221017154
NM_206933.4(USH2A):c.5869_5870delinsTA (p.Val1957Ter)
NM_206933.4(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.4(USH2A):c.6131C>A (p.Ser2044Ter) rs1209837469
NM_206933.4(USH2A):c.6163+1G>A rs2030617696
NM_206933.4(USH2A):c.6225G>T (p.Trp2075Cys) rs1553294134
NM_206933.4(USH2A):c.6520G>T (p.Glu2174Ter)
NM_206933.4(USH2A):c.6805+1G>T rs1553285919
NM_206933.4(USH2A):c.6904_6920dup (p.Gln2307fs) rs1667472317
NM_206933.4(USH2A):c.6957+1G>C rs2102458321
NM_206933.4(USH2A):c.7037A>G (p.His2346Arg)
NM_206933.4(USH2A):c.7082_7083del (p.His2361fs)
NM_206933.4(USH2A):c.7120+1G>A rs1667311758
NM_206933.4(USH2A):c.7447del (p.Phe2482_Leu2483insTer)
NM_206933.4(USH2A):c.7594+1G>A
NM_206933.4(USH2A):c.7871del (p.Pro2624fs)
NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro) rs398124620
NM_206933.4(USH2A):c.8332C>T (p.Gln2778Ter) rs1664842535
NM_206933.4(USH2A):c.847A>G (p.Arg283Gly) rs2102658767
NM_206933.4(USH2A):c.8480T>A (p.Leu2827Ter) rs2102451648
NM_206933.4(USH2A):c.851A>G (p.Glu284Gly) rs762869685
NM_206933.4(USH2A):c.8681+1G>C
NM_206933.4(USH2A):c.8681G>T (p.Arg2894Met)
NM_206933.4(USH2A):c.8800_8801del (p.Ser2934fs)
NM_206933.4(USH2A):c.9055+1G>A rs1553268562
NM_206933.4(USH2A):c.9055+1del rs1553268563
NM_206933.4(USH2A):c.9055+2T>A
NM_206933.4(USH2A):c.9120G>A (p.Trp3040Ter)
NM_206933.4(USH2A):c.9307del (p.Ile3103fs) rs1558121260
NM_206933.4(USH2A):c.9391dup (p.Val3131fs) rs2102796558
NM_206933.4(USH2A):c.9440G>A (p.Trp3147Ter) rs1662880811
NM_206933.4(USH2A):c.951del (p.Tyr318fs)
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs) rs1388040238
NM_207352.4(CYP4V2):c.176del (p.Leu59fs) rs1735999769

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