ClinVar Miner

List of variants reported as pathogenic for retinal disorder by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1641
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HGVS dbSNP gnomAD frequency
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) rs116471343 0.00096
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175 0.00087
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014 0.00038
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_152443.3(RDH12):c.869T>G (p.Val290Gly) rs61740289 0.00029
NM_021615.5(CHST6):c.599T>G (p.Leu200Arg) rs28937879 0.00022
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_201253.3(CRB1):c.2225T>C (p.Phe742Ser) rs140494140 0.00017
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu) rs147394623 0.00015
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu) rs1191496583 0.00014
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) rs61752877 0.00013
NM_152419.3(HGSNAT):c.493+1G>A rs193066451 0.00013
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter) rs137853137 0.00013
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748 0.00013
NM_022787.4(NMNAT1):c.507G>A (p.Trp169Ter) rs371526758 0.00012
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln) rs61752873 0.00011
NM_022787.4(NMNAT1):c.293T>G (p.Val98Gly) rs771336246 0.00011
NM_152419.3(HGSNAT):c.715C>T (p.Arg239Cys) rs369292480 0.00011
NM_152443.3(RDH12):c.701G>A (p.Arg234His) rs750636662 0.00010
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter) rs774130993 0.00009
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile) rs1429137932 0.00009
NM_014336.5(AIPL1):c.277-2A>G rs140808549 0.00009
NM_021615.5(CHST6):c.1A>T (p.Met1Leu) rs755563003 0.00009
NM_000274.4(OAT):c.539G>C (p.Arg180Thr) rs121965040 0.00008
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His) rs62653011 0.00008
NM_014336.5(AIPL1):c.377T>A (p.Met126Lys) rs761622978 0.00008
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter) rs104894471 0.00007
NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg) rs62636264 0.00007
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871 0.00006
NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter) rs80044281 0.00006
NM_201253.3(CRB1):c.584G>T (p.Cys195Phe) rs764256655 0.00006
NM_000274.4(OAT):c.1250C>T (p.Pro417Leu) rs121965044 0.00005
NM_014336.5(AIPL1):c.784G>A (p.Gly262Ser) rs142326926 0.00005
NM_018418.5(SPATA7):c.1160G>A (p.Arg387Lys) rs868032740 0.00005
NM_018418.5(SPATA7):c.253C>T (p.Arg85Ter) rs140287375 0.00005
NM_152443.3(RDH12):c.278T>C (p.Leu93Pro) rs527800020 0.00005
NM_000096.4(CP):c.2670C>G (p.Tyr890Ter) rs1043139127 0.00004
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys) rs61749668 0.00004
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln) rs61751282 0.00004
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro) rs61751277 0.00004
NM_015662.3(IFT172):c.112C>T (p.Arg38Ter) rs139021548 0.00004
NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg) rs149614625 0.00004
NM_020366.4(RPGRIP1):c.1111C>T (p.Arg371Ter) rs375859404 0.00004
NM_020366.4(RPGRIP1):c.1468-2A>G rs751342895 0.00004
NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter) rs192003551 0.00004
NM_020366.4(RPGRIP1):c.2302C>T (p.Arg768Ter) rs75459701 0.00004
NM_022787.4(NMNAT1):c.619C>T (p.Arg207Trp) rs142968179 0.00004
NM_022787.4(NMNAT1):c.634G>A (p.Val212Met) rs201994921 0.00004
NM_033629.6(TREX1):c.403C>T (p.Gln135Ter) rs746384382 0.00004
NM_033629.6(TREX1):c.416del (p.Ala139fs) rs763229085 0.00004
NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His) rs766835582 0.00004
NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu) rs756310864 0.00004
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) rs28940315 0.00004
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu) rs116733939 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter) rs62636273 0.00004
NM_000180.4(GUCY2D):c.2595del (p.Lys866fs) rs1200134985 0.00003
NM_000274.4(OAT):c.596C>A (p.Pro199Gln) rs267606925 0.00003
NM_000274.4(OAT):c.897C>G (p.Tyr299Ter) rs121965057 0.00003
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser) rs61751281 0.00003
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) rs121917745 0.00003
NM_000329.3(RPE65):c.331C>T (p.Pro111Ser) rs886042220 0.00003
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn) rs61752905 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_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter) rs775078211 0.00003
NM_152443.3(RDH12):c.139G>A (p.Ala47Thr) rs761231974 0.00003
NM_152443.3(RDH12):c.146C>T (p.Thr49Met) rs28940314 0.00003
NM_152443.3(RDH12):c.250C>T (p.Arg84Ter) rs1349849938 0.00003
NM_152443.3(RDH12):c.697G>C (p.Val233Leu) rs140257538 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 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_201253.3(CRB1):c.2308G>A (p.Gly770Ser) rs767648174 0.00003
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg) rs62636275 0.00003
NM_201253.3(CRB1):c.4168C>T (p.Arg1390Ter) rs763324776 0.00003
NM_000096.4(CP):c.1948G>A (p.Gly650Arg) rs776936158 0.00002
NM_000180.4(GUCY2D):c.3271C>T (p.Arg1091Ter) rs769818541 0.00002
NM_000180.4(GUCY2D):c.760G>T (p.Glu254Ter) rs756730335 0.00002
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) rs137853294 0.00002
NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr) rs121917744 0.00002
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) rs368088025 0.00002
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser) rs1420672586 0.00002
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter) rs62642584 0.00002
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp) rs61752896 0.00002
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu) rs199683808 0.00002
NM_000554.6(CRX):c.206G>A (p.Arg69His) rs775073228 0.00002
NM_000554.6(CRX):c.268C>T (p.Arg90Trp) rs104894673 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_014336.5(AIPL1):c.421C>T (p.Gln141Ter) rs200125117 0.00002
NM_014336.5(AIPL1):c.94C>T (p.Arg32Ter) rs139305531 0.00002
NM_018418.5(SPATA7):c.1373del (p.Val458fs) rs753697847 0.00002
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter) rs767745816 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_020366.4(RPGRIP1):c.2398G>A (p.Glu800Lys) rs565837539 0.00002
NM_020366.4(RPGRIP1):c.2711-2A>G rs766443371 0.00002
NM_021615.5(CHST6):c.997T>C (p.Trp333Arg) rs758657734 0.00002
NM_022787.4(NMNAT1):c.196C>T (p.Arg66Trp) rs763325435 0.00002
NM_022787.4(NMNAT1):c.205A>G (p.Met69Val) rs372066126 0.00002
NM_152419.3(HGSNAT):c.1250+1G>A rs398124544 0.00002
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys) rs753355844 0.00002
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp) rs754875934 0.00002
NM_152419.3(HGSNAT):c.372-2A>G rs483352896 0.00002
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp) rs759408031 0.00002
NM_201253.3(CRB1):c.1084C>T (p.Gln362Ter) rs778627080 0.00002
NM_201253.3(CRB1):c.1439G>C (p.Cys480Ser) rs62636265 0.00002
NM_201253.3(CRB1):c.1841G>T (p.Gly614Val) rs763111500 0.00002
NM_201253.3(CRB1):c.1913C>T (p.Ser638Leu) rs267598278 0.00002
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val) rs145282040 0.00002
NM_201253.3(CRB1):c.3488G>T (p.Cys1163Phe) rs768713412 0.00002
NM_201253.3(CRB1):c.3676G>T (p.Gly1226Ter) rs757740068 0.00002
NM_201253.3(CRB1):c.3991C>T (p.Arg1331Cys) rs760544654 0.00002
NM_201253.3(CRB1):c.4061C>A (p.Ala1354Asp) rs760100325 0.00002
NM_000096.4(CP):c.2498C>G (p.Ser833Ter) rs369900671 0.00001
NM_000096.4(CP):c.2701C>T (p.Arg901Ter) rs386134156 0.00001
NM_000096.4(CP):c.643C>T (p.Arg215Ter) rs386134155 0.00001
NM_000180.4(GUCY2D):c.1052A>G (p.Tyr351Cys) rs61749676 0.00001
NM_000180.4(GUCY2D):c.1566+1G>A rs1348467293 0.00001
NM_000180.4(GUCY2D):c.1633C>T (p.Gln545Ter) rs1290420698 0.00001
NM_000180.4(GUCY2D):c.1978C>T (p.Arg660Ter) rs61750161 0.00001
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln) rs750889782 0.00001
NM_000180.4(GUCY2D):c.2383C>T (p.Arg795Trp) rs765910207 0.00001
NM_000180.4(GUCY2D):c.2384G>A (p.Arg795Gln) rs61750171 0.00001
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys) rs61750172 0.00001
NM_000180.4(GUCY2D):c.2563C>T (p.Gln855Ter) rs1555635778 0.00001
NM_000180.4(GUCY2D):c.2598G>C (p.Lys866Asn) rs201587670 0.00001
NM_000180.4(GUCY2D):c.3224+1G>C rs757823463 0.00001
NM_000180.4(GUCY2D):c.3G>C (p.Met1Ile) rs281865409 0.00001
NM_000180.4(GUCY2D):c.65G>A (p.Trp22Ter) rs1308509257 0.00001
NM_000274.4(OAT):c.1192C>T (p.Arg398Ter) rs200068769 0.00001
NM_000274.4(OAT):c.1307T>A (p.Ile436Asn) rs386833598 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.722C>T (p.Pro241Leu) rs121965051 0.00001
NM_000274.4(OAT):c.748C>T (p.Arg250Ter) rs386833617 0.00001
NM_000274.4(OAT):c.796C>T (p.Gln266Ter) rs1951458291 0.00001
NM_000274.4(OAT):c.800C>T (p.Thr267Ile) rs386833618 0.00001
NM_000274.4(OAT):c.881T>A (p.Leu294His) rs752974288 0.00001
NM_000274.4(OAT):c.952G>A (p.Glu318Lys) rs386833621 0.00001
NM_000274.4(OAT):c.991C>T (p.Arg331Ter) rs386833623 0.00001
NM_000321.3(RB1):c.1363C>T (p.Arg455Ter) rs121913302 0.00001
NM_000321.3(RB1):c.2536C>T (p.Gln846Ter) rs1231557654 0.00001
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) rs61752909 0.00001
NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro) rs62636298 0.00001
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln) rs62636299 0.00001
NM_000329.3(RPE65):c.1399C>G (p.Pro467Ala) rs1395763356 0.00001
NM_000329.3(RPE65):c.1445A>G (p.Asp482Gly) rs749242996 0.00001
NM_000329.3(RPE65):c.1451G>T (p.Gly484Val) rs62653015 0.00001
NM_000329.3(RPE65):c.2T>C (p.Met1Thr) rs281865285 0.00001
NM_000329.3(RPE65):c.344T>C (p.Ile115Thr) rs1645929674 0.00001
NM_000329.3(RPE65):c.493C>T (p.Gln165Ter) rs1202384396 0.00001
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr) rs61752883 0.00001
NM_000329.3(RPE65):c.560G>A (p.Gly187Glu) rs752058510 0.00001
NM_000329.3(RPE65):c.644-2A>C rs61752891 0.00001
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter) rs61752895 0.00001
NM_000329.3(RPE65):c.725+2T>A rs1355979496 0.00001
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter) rs61752904 0.00001
NM_000329.3(RPE65):c.917C>T (p.Thr306Ile) rs1171545533 0.00001
NM_000329.3(RPE65):c.95-2A>T rs61751279 0.00001
NM_000329.3(RPE65):c.992G>A (p.Trp331Ter) rs761471961 0.00001
NM_000329.3(RPE65):c.993G>A (p.Trp331Ter) rs1645879569 0.00001
NM_000554.6(CRX):c.118C>T (p.Arg40Trp) rs749738655 0.00001
NM_000554.6(CRX):c.119G>A (p.Arg40Gln) rs771450991 0.00001
NM_000554.6(CRX):c.121C>T (p.Arg41Trp) rs104894672 0.00001
NM_000554.6(CRX):c.122G>A (p.Arg41Gln) rs61748436 0.00001
NM_000554.6(CRX):c.128G>A (p.Arg43His) rs771736389 0.00001
NM_001278293.3(ARL6):c.272T>C (p.Ile91Thr) rs137854907 0.00001
NM_001278293.3(ARL6):c.364C>T (p.Arg122Ter) rs104893678 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_014336.5(AIPL1):c.265T>C (p.Cys89Arg) rs1264794214 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_014336.5(AIPL1):c.97_104dup (p.Phe35delinsLeuTer) rs776129172 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.2567del (p.Leu856fs) rs1357839545 0.00001
NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter) rs750338419 0.00001
NM_015662.3(IFT172):c.2866C>T (p.Gln956Ter) rs144450109 0.00001
NM_015662.3(IFT172):c.3793G>T (p.Glu1265Ter) rs999731005 0.00001
NM_015662.3(IFT172):c.3907C>T (p.Arg1303Ter) rs587777087 0.00001
NM_015662.3(IFT172):c.3944G>A (p.Trp1315Ter) rs778898472 0.00001
NM_015662.3(IFT172):c.4508G>A (p.Trp1503Ter) rs1665288663 0.00001
NM_015662.3(IFT172):c.4519C>T (p.Arg1507Ter) rs150246251 0.00001
NM_015662.3(IFT172):c.4597dup (p.Thr1533fs) rs1183354903 0.00001
NM_018418.5(SPATA7):c.1161-1G>C rs779101498 0.00001
NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter) rs75895925 0.00001
NM_018418.5(SPATA7):c.19+2T>A rs866837129 0.00001
NM_020366.4(RPGRIP1):c.1219C>T (p.Gln407Ter) rs775425686 0.00001
NM_020366.4(RPGRIP1):c.2314C>T (p.Gln772Ter) rs577932201 0.00001
NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter) rs1429786931 0.00001
NM_020366.4(RPGRIP1):c.2775G>A (p.Trp925Ter) rs398124354 0.00001
NM_020366.4(RPGRIP1):c.282_283dup (p.Ala95fs) rs1881002905 0.00001
NM_020366.4(RPGRIP1):c.2895+1G>T rs748072501 0.00001
NM_020366.4(RPGRIP1):c.3565C>T (p.Arg1189Ter) rs752175052 0.00001
NM_020366.4(RPGRIP1):c.3617+1G>T rs771116776 0.00001
NM_020366.4(RPGRIP1):c.663dup (p.Asn222Ter) rs1233376985 0.00001
NM_020366.4(RPGRIP1):c.800+1G>A rs376500610 0.00001
NM_020366.4(RPGRIP1):c.898del (p.Val300fs) rs1566674893 0.00001
NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser) rs748902766 0.00001
NM_022787.4(NMNAT1):c.709C>T (p.Arg237Cys) rs375110174 0.00001
NM_022787.4(NMNAT1):c.716T>C (p.Leu239Ser) rs778606847 0.00001
NM_033629.6(TREX1):c.357G>A (p.Trp119Ter) rs747399274 0.00001
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) rs78218009 0.00001
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) rs121908285 0.00001
NM_152419.3(HGSNAT):c.1345dup (p.Asp449fs) rs483352894 0.00001
NM_152419.3(HGSNAT):c.1348del (p.Asp450fs) rs771455190 0.00001
NM_152419.3(HGSNAT):c.1464+1G>A rs398124545 0.00001
NM_152419.3(HGSNAT):c.1516C>T (p.Arg506Ter) rs747240928 0.00001
NM_152419.3(HGSNAT):c.1553C>T (p.Ser518Phe) rs121908286 0.00001
NM_152419.3(HGSNAT):c.234+1G>A rs483352908 0.00001
NM_152419.3(HGSNAT):c.607C>T (p.Arg203Ter) rs1563366896 0.00001
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu) rs121908282 0.00001
NM_152419.3(HGSNAT):c.852-2A>C rs755710040 0.00001
NM_152443.3(RDH12):c.133A>G (p.Thr45Ala) rs1225487694 0.00001
NM_152443.3(RDH12):c.193C>T (p.Arg65Ter) rs778571042 0.00001
NM_152443.3(RDH12):c.210dup (p.Arg71fs) rs797044761 0.00001
NM_152443.3(RDH12):c.226G>C (p.Gly76Arg) rs368489658 0.00001
NM_152443.3(RDH12):c.316C>T (p.Arg106Ter) rs752242512 0.00001
NM_152443.3(RDH12):c.377C>T (p.Ala126Val) rs202126574 0.00001
NM_152443.3(RDH12):c.437T>A (p.Val146Asp) rs116649873 0.00001
NM_152443.3(RDH12):c.446T>C (p.Leu149Pro) rs747257567 0.00001
NM_152443.3(RDH12):c.451C>G (p.His151Asp) rs104894475 0.00001
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile) rs121434337 0.00001
NM_152443.3(RDH12):c.506G>A (p.Arg169Gln) rs971610277 0.00001
NM_152443.3(RDH12):c.582C>G (p.Tyr194Ter) rs753074829 0.00001
NM_152443.3(RDH12):c.619A>G (p.Asn207Asp) rs745871149 0.00001
NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys) rs28940313 0.00001
NM_201253.3(CRB1):c.1149dup (p.Ile384fs) rs1660517678 0.00001
NM_201253.3(CRB1):c.1349G>A (p.Cys450Tyr) rs746597173 0.00001
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter) rs114342808 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.2300T>C (p.Leu767Pro) rs1451348539 0.00001
NM_201253.3(CRB1):c.2536G>A (p.Gly846Arg) rs539189291 0.00001
NM_201253.3(CRB1):c.2548G>A (p.Gly850Ser) rs776591659 0.00001
NM_201253.3(CRB1):c.2549G>T (p.Gly850Val) rs757137398 0.00001
NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr) rs62636271 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.3122T>C (p.Met1041Thr) rs62635656 0.00001
NM_201253.3(CRB1):c.3221T>C (p.Leu1074Ser) rs751303205 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.3958C>T (p.Gln1320Ter) rs1246546027 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_201253.3(CRB1):c.4039del (p.Thr1347fs) rs745422941 0.00001
NM_201253.3(CRB1):c.653-1G>T rs760287363 0.00001
NM_201253.3(CRB1):c.852T>A (p.Tyr284Ter) rs1046799192 0.00001
NM_201253.3(CRB1):c.997G>C (p.Gly333Arg) rs778232235 0.00001
NC_000001.10:g.(?_10027411)_(10042759_?)del
NC_000001.10:g.(?_10027411)_(10045246_?)del
NC_000001.10:g.(?_10032132)_(10032266_?)del
NC_000001.10:g.(?_10032132)_(10035853_?)del
NC_000001.10:g.(?_10035630)_(10041248_?)del
NC_000001.10:g.(?_10041069)_(10041248_?)del
NC_000001.10:g.(?_10041069)_(10042759_?)del
NC_000001.10:g.(?_196918585)_(197742062_?)del
NC_000001.10:g.(?_197237324)_(197326153_?)del
NC_000001.10:g.(?_197237324)_(197447595_?)del
NC_000001.10:g.(?_197237543)_(197237632_?)del
NC_000001.10:g.(?_197237543)_(197447009_?)del
NC_000001.10:g.(?_197297532)_(197411442_?)del
NC_000001.10:g.(?_197297542)_(197326153_?)del
NC_000001.10:g.(?_197390110)_(197391106_?)del
NC_000001.10:g.(?_197390110)_(197398764_?)del
NC_000001.10:g.(?_197398094)_(197398754_?)del
NC_000001.10:g.(?_197404386)_(197410804_?)del
NC_000001.10:g.(?_197407491)_(197411316_?)del
NC_000001.10:g.(?_197407657)_(197411442_?)del
NC_000001.10:g.(?_197407677)_(197411422_?)del
NC_000001.10:g.(?_197407736)_(197423021_?)del
NC_000001.10:g.(?_197446784)_(197447595_?)del
NC_000001.10:g.(?_211652378)_(211654757_?)del
NC_000001.10:g.(?_26757796)_(26764723_?)del
NC_000001.10:g.(?_26759437)_(26774171_?)del
NC_000001.10:g.(?_26764639)_(26764795_?)del
NC_000001.10:g.(?_26784272)_(26795632_?)del
NC_000001.10:g.(?_68895449)_(68915598_?)del
NC_000001.10:g.(?_68910194)_(68912563_?)del
NC_000001.10:g.(?_68912383)_(68912553_?)del
NC_000001.10:g.(?_68914287)_(68914409_?)del
NC_000001.11:g.(?_197084314)_(197478465_?)del
NC_000001.11:g.(?_197268194)_(197268492_?)del
NC_000001.11:g.(?_197268413)_(197357013_?)del
NC_000001.11:g.(?_197438537)_(197442544_?)del
NC_000001.11:g.(?_68438187)_(68484090_?)del
NC_000001.11:g.(?_9981011)_(9982721_?)del
NC_000001.11:g.(?_9981031)_(9982701_?)dup
NC_000002.11:g.(?_27667299)_(27677547_?)del
NC_000002.11:g.(?_27693775)_(27695249_?)del
NC_000002.12:g.(?_27462701)_(27463181_?)del
NC_000002.12:g.27444516_27444526del
NC_000003.11:g.(?_148447967)_(149678891_?)del
NC_000003.11:g.(?_148939414)_(148939579_?)del
NC_000003.11:g.(?_48507870)_(50340407_?)del
NC_000003.11:g.(?_97194196)_(97510809_?)del
NC_000003.11:g.(?_97486952)_(97487094_?)del
NC_000003.11:g.(?_97486952)_(97516893_?)del
NC_000003.11:g.(?_97498983)_(97516893_?)del
NC_000003.12:g.(?_149206148)_(149206359_?)del
NC_000003.12:g.(?_97768108)_(97768230_?)del
NC_000008.10:g.(?_42977230)_(43002226_?)del
NC_000008.10:g.(?_43002071)_(43033397_?)del
NC_000008.10:g.(?_43013698)_(43014207_?)del
NC_000008.10:g.(?_43024296)_(43024405_?)del
NC_000008.10:g.(?_43025708)_(43028906_?)del
NC_000008.10:g.(?_43027433)_(43027549_?)del
NC_000008.10:g.(?_43052071)_(43054712_?)del
NC_000008.11:g.(?_43140497)_(43161507_?)del
NC_000008.11:g.(?_43169153)_(43178254_?)del
NC_000008.11:g.(?_43196928)_(43197972_?)del
NC_000010.10:g.(?_126086501)_(126086681_?)del
NC_000010.10:g.(?_126089399)_(126089563_?)del
NC_000010.10:g.(?_126091476)_(126092509_?)del
NC_000010.10:g.(?_126093995)_(126100239_?)del
NC_000010.10:g.(?_126097101)_(126097544_?)del
NC_000010.10:g.(?_126097101)_(126100750_?)del
NC_000010.10:g.(?_126100603)_(126140009_?)del
NC_000013.10:g.(?_48517506)_(49039524_?)del
NC_000013.10:g.(?_48611883)_(48878195_?)del
NC_000013.10:g.(?_48611883)_(48939117_?)del
NC_000013.10:g.(?_48611883)_(48955589_?)del
NC_000013.10:g.(?_48877814)_(49054207_?)del
NC_000013.10:g.(?_48877837)_(48881552_?)del
NC_000013.10:g.(?_48877851)_(49054207_?)del
NC_000013.10:g.(?_48878039)_(48919345_?)del
NC_000013.10:g.(?_48878049)_(48923179_?)del
NC_000013.10:g.(?_48881406)_(48955589_?)dup
NC_000013.10:g.(?_48916715)_(48916870_?)dup
NC_000013.10:g.(?_48916725)_(48922009_?)del
NC_000013.10:g.(?_48916725)_(49054207_?)del
NC_000013.10:g.(?_48916729)_(48942746_?)dup
NC_000013.10:g.(?_48919196)_(48955599_?)del
NC_000013.10:g.(?_48919206)_(48923169_?)del
NC_000013.10:g.(?_48934141)_(49054207_?)del
NC_000013.10:g.(?_48934143)_(48941749_?)del
NC_000013.10:g.(?_48937921)_(48942750_?)del
NC_000013.10:g.(?_48941610)_(48942760_?)del
NC_000013.10:g.(?_48947531)_(48947691_?)del
NC_000013.10:g.(?_48947531)_(48955589_?)del
NC_000013.10:g.(?_48951044)_(48955589_?)del
NC_000013.10:g.(?_48953730)_(48954377_?)del
NC_000013.10:g.(?_48954189)_(48954377_?)del
NC_000013.10:g.(?_48985727)_(49039514_?)dup
NC_000013.10:g.(?_49027115)_(49054207_?)del
NC_000013.10:g.(?_49027119)_(49030495_?)dup
NC_000013.10:g.(?_49030329)_(49033979_?)del
NC_000013.10:g.(?_49037857)_(49039514_?)del
NC_000013.10:g.(?_49037857)_(49039514_?)dup
NC_000013.10:g.(?_49039232)_(49040694_?)del
NC_000013.10:g.(?_49046098)_(49047536_?)del
NC_000013.10:g.(?_49046098)_(49054207_?)del
NC_000013.11:g.(?_48037747)_(48480071_?)del
NC_000013.11:g.(?_48040910)_(48480071_?)del
NC_000013.11:g.(?_48302747)_(48482890_?)del
NC_000013.11:g.(?_48303701)_(48304059_?)del
NC_000013.11:g.(?_48303701)_(48412896_?)del
NC_000013.11:g.(?_48303701)_(48480071_?)del
NC_000013.11:g.(?_48303903)_(48307416_?)del
NC_000013.11:g.(?_48303903)_(48480081_?)del
NC_000013.11:g.(?_48303907)_(48480077_?)del
NC_000013.11:g.(?_48307270)_(48349033_?)del
NC_000013.11:g.(?_48307274)_(48349029_?)del
NC_000013.11:g.(?_48342589)_(48345209_?)del
NC_000013.11:g.(?_48342589)_(48368614_?)del
NC_000013.11:g.(?_48342599)_(48345199_?)del
NC_000013.11:g.(?_48345070)_(48345209_?)del
NC_000013.11:g.(?_48345074)_(48345205_?)del
NC_000013.11:g.(?_48360007)_(48368614_?)del
NC_000013.11:g.(?_48376908)_(48380094_?)del
NC_000013.11:g.(?_48379574)_(48480071_?)del
NC_000013.11:g.(?_48452983)_(48480081_?)del
NC_000013.11:g.(?_48459678)_(48459843_?)del
NC_000013.11:g.(?_48464992)_(48465374_?)del
NC_000013.11:g.(?_48476691)_(48477414_?)del
NC_000013.11:g.48464999_48465023del rs2138344503
NC_000014.8:g.(?_21756136)_(21756240_?)del
NC_000014.8:g.(?_21756136)_(22005055_?)del
NC_000014.8:g.(?_21762816)_(21762988_?)dup
NC_000014.8:g.(?_21762816)_(21795986_?)del
NC_000014.8:g.(?_21762977)_(21770303_?)del
NC_000014.8:g.(?_21785835)_(21786029_?)del
NC_000014.8:g.(?_21785835)_(21788356_?)del
NC_000014.8:g.(?_21785835)_(21796806_?)del
NC_000014.8:g.(?_21793972)_(21794928_?)del
NC_000014.8:g.(?_21795782)_(21795966_?)del
NC_000014.8:g.(?_21798388)_(21798566_?)del
NC_000014.8:g.(?_88852143)_(88904786_?)del
NC_000014.8:g.(?_88852163)_(88862567_?)del
NC_000014.8:g.(?_88852163)_(88904766_?)del
NC_000014.9:g.(?_21317696)_(21320177_?)del
NC_000016.9:g.(?_74748068)_(75513746_?)del
NC_000017.10:g.(?_6328760)_(6616672_?)del
NC_000017.10:g.(?_6331618)_(6338424_?)del
NC_000017.10:g.(?_6337219)_(6337438_?)del
NC_000017.10:g.(?_6338309)_(6338424_?)del
NC_000017.10:g.(?_7906366)_(7911370_?)del
NC_000017.10:g.(?_7906366)_(7912924_?)del
NC_000017.10:g.(?_7919041)_(7919848_?)del
NC_000017.11:g.(?_8002902)_(8016550_?)del
NC_000019.9:g.(?_48337701)_(48343224_?)del
NC_000019.9:g.(?_48339480)_(48343224_?)del
NC_000019.9:g.(?_48339500)_(48343224_?)del
NC_000019.9:g.(?_48342985)_(48346262_?)del
NM_000096.4(CP):c.1106del (p.Lys369fs)
NM_000096.4(CP):c.1149G>A (p.Trp383Ter) rs772867888
NM_000096.4(CP):c.1306C>T (p.Arg436Ter)
NM_000096.4(CP):c.1317_1318del (p.Gly440fs) rs1727369694
NM_000096.4(CP):c.1505_1506dup (p.Pro503fs) rs1553761391
NM_000096.4(CP):c.1613del (p.Met538fs) rs1576759850
NM_000096.4(CP):c.1731del (p.Glu577fs) rs2108244261
NM_000096.4(CP):c.1843C>T (p.Gln615Ter)
NM_000096.4(CP):c.1991_1992del (p.Thr664fs)
NM_000096.4(CP):c.2066del (p.Pro689fs) rs386134147
NM_000096.4(CP):c.2149C>T (p.Gln717Ter)
NM_000096.4(CP):c.2253G>A (p.Trp751Ter) rs1559940237
NM_000096.4(CP):c.2322C>A (p.Tyr774Ter) rs2108230432
NM_000096.4(CP):c.2520_2523del (p.Thr841fs)
NM_000096.4(CP):c.2702dup (p.Arg902fs) rs1559935542
NM_000096.4(CP):c.2712del (p.Tyr904_Leu905insTer)
NM_000096.4(CP):c.3019-1G>A rs386134142
NM_000096.4(CP):c.376_379del (p.Tyr126fs) rs2108301637
NM_000096.4(CP):c.607+1del rs753254095
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.4(GUCY2D):c.-2_3del (p.Met1fs) rs1451359371
NM_000180.4(GUCY2D):c.1008_1014del (p.Asp337fs)
NM_000180.4(GUCY2D):c.1089_1113del (p.Glu363fs)
NM_000180.4(GUCY2D):c.1116G>A (p.Trp372Ter)
NM_000180.4(GUCY2D):c.1116_1119dup (p.Ser374fs)
NM_000180.4(GUCY2D):c.1149_1155del (p.Asp384fs)
NM_000180.4(GUCY2D):c.1150del (p.Asp384fs)
NM_000180.4(GUCY2D):c.1245del (p.Phe415fs) rs1598146173
NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter) rs61749679
NM_000180.4(GUCY2D):c.1361_1367del (p.Asn454fs) rs2151800620
NM_000180.4(GUCY2D):c.1371C>A (p.Cys457Ter)
NM_000180.4(GUCY2D):c.1377_1378del (p.Gly460fs)
NM_000180.4(GUCY2D):c.1433_1442dup (p.Phe482fs) rs1598146589
NM_000180.4(GUCY2D):c.144dup (p.Ala49fs)
NM_000180.4(GUCY2D):c.1573C>T (p.Gln525Ter) rs1168076308
NM_000180.4(GUCY2D):c.1582C>T (p.Arg528Ter) rs1349155167
NM_000180.4(GUCY2D):c.16_19del (p.Arg6fs)
NM_000180.4(GUCY2D):c.1753C>T (p.Gln585Ter)
NM_000180.4(GUCY2D):c.175del (p.Leu59fs) rs2151799287
NM_000180.4(GUCY2D):c.1773del (p.Asn591fs) rs794727952
NM_000180.4(GUCY2D):c.1780_1783del (p.Leu594fs)
NM_000180.4(GUCY2D):c.1784_1787del (p.Tyr595fs)
NM_000180.4(GUCY2D):c.1821_1824dup (p.Ala609fs)
NM_000180.4(GUCY2D):c.185G>A (p.Trp62Ter)
NM_000180.4(GUCY2D):c.186G>A (p.Trp62Ter)
NM_000180.4(GUCY2D):c.1957-2A>G rs945734402
NM_000180.4(GUCY2D):c.1A>G (p.Met1Val) rs1424348888
NM_000180.4(GUCY2D):c.2080C>T (p.Gln694Ter)
NM_000180.4(GUCY2D):c.2113+1G>A
NM_000180.4(GUCY2D):c.2209C>T (p.Gln737Ter) rs2151802829
NM_000180.4(GUCY2D):c.2260G>T (p.Glu754Ter) rs747951577
NM_000180.4(GUCY2D):c.2291del (p.Pro764fs)
NM_000180.4(GUCY2D):c.2291dup (p.Pro765fs)
NM_000180.4(GUCY2D):c.2323C>T (p.Gln775Ter)
NM_000180.4(GUCY2D):c.2377del (p.Glu793fs) rs1555635668
NM_000180.4(GUCY2D):c.2395_2398dup (p.His800fs) rs1975911430
NM_000180.4(GUCY2D):c.2476C>T (p.Gln826Ter) rs1338490917
NM_000180.4(GUCY2D):c.2509del (p.Glu837fs)
NM_000180.4(GUCY2D):c.2512C>A (p.Arg838Ser) rs61750172
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000180.4(GUCY2D):c.2513G>C (p.Arg838Pro) rs61750173
NM_000180.4(GUCY2D):c.2516del (p.Thr839fs) rs756044745
NM_000180.4(GUCY2D):c.2538G>C (p.Lys846Asn) rs1598150539
NM_000180.4(GUCY2D):c.2632C>T (p.Gln878Ter)
NM_000180.4(GUCY2D):c.2646C>G (p.Tyr882Ter) rs1567961697
NM_000180.4(GUCY2D):c.2649del (p.Phe883fs) rs1598150748
NM_000180.4(GUCY2D):c.2678_2679del (p.Ser893fs)
NM_000180.4(GUCY2D):c.2730dup (p.Leu911fs)
NM_000180.4(GUCY2D):c.2735_2736del (p.Leu911_Phe912insTer)
NM_000180.4(GUCY2D):c.2871del (p.Ser958fs) rs2151803659
NM_000180.4(GUCY2D):c.2899del (p.His967fs) rs61750183
NM_000180.4(GUCY2D):c.2944+1del rs61750185
NM_000180.4(GUCY2D):c.2952C>A (p.Cys984Ter)
NM_000180.4(GUCY2D):c.2988C>G (p.Tyr996Ter) rs1975957350
NM_000180.4(GUCY2D):c.2997del (p.Phe999fs) rs1975957618
NM_000180.4(GUCY2D):c.3037G>A (p.Gly1013Arg) rs868612148
NM_000180.4(GUCY2D):c.3038G>A (p.Gly1013Glu) rs1975959442
NM_000180.4(GUCY2D):c.3065T>A (p.Leu1022Ter) rs866511152
NM_000180.4(GUCY2D):c.3074_3075del (p.Val1025fs)
NM_000180.4(GUCY2D):c.308A>T (p.Glu103Val)
NM_000180.4(GUCY2D):c.3105C>G (p.Tyr1035Ter) rs1975964112
NM_000180.4(GUCY2D):c.3118C>T (p.Arg1040Ter) rs61750194
NM_000180.4(GUCY2D):c.3118_3125delinsAAGGTGAGGTAC (p.Arg1040fs)
NM_000180.4(GUCY2D):c.442del (p.Val148fs)
NM_000180.4(GUCY2D):c.450G>A (p.Trp150Ter)
NM_000180.4(GUCY2D):c.484dup (p.Ala162fs) rs2151799452
NM_000180.4(GUCY2D):c.51C>A (p.Cys17Ter)
NM_000180.4(GUCY2D):c.564del (p.Ala189fs) rs2151799492
NM_000180.4(GUCY2D):c.690_693del (p.Lys232fs) rs2151799567
NM_000180.4(GUCY2D):c.781_782insT (p.Glu261fs)
NM_000180.4(GUCY2D):c.849C>G (p.Tyr283Ter) rs143745703
NM_000180.4(GUCY2D):c.860del (p.Pro287fs)
NM_000180.4(GUCY2D):c.914del (p.His305fs) rs1598144694
NM_000180.4(GUCY2D):c.91dup (p.Arg31fs) rs61749663
NM_000180.4(GUCY2D):c.926_939del (p.Leu309fs) rs1975693728
NM_000180.4(GUCY2D):c.941dup (p.His314fs)
NM_000274.4(OAT):c.1001dup (p.Ala335fs) rs2134452962
NM_000274.4(OAT):c.1078del (p.Leu360fs) rs1951389692
NM_000274.4(OAT):c.1140del (p.Ile380fs)
NM_000274.4(OAT):c.1150G>T (p.Glu384Ter) rs1285313333
NM_000274.4(OAT):c.1159+1G>A rs2134450136
NM_000274.4(OAT):c.1163G>A (p.Trp388Ter) rs2134440659
NM_000274.4(OAT):c.1164G>A (p.Trp388Ter)
NM_000274.4(OAT):c.1179_1182dup (p.Leu395fs) rs2134440572
NM_000274.4(OAT):c.1186C>T (p.Arg396Ter) rs121965036
NM_000274.4(OAT):c.1201G>T (p.Gly401Ter) rs121965055
NM_000274.4(OAT):c.1205T>C (p.Leu402Pro) rs121965043
NM_000274.4(OAT):c.1253_1260dup (p.Lys421delinsTrpTer) rs2134440057
NM_000274.4(OAT):c.1276C>T (p.Arg426Ter) rs121965058
NM_000274.4(OAT):c.152G>A (p.Gly51Asp)
NM_000274.4(OAT):c.159del (p.His53fs) rs386833599
NM_000274.4(OAT):c.182_189del (p.Ala61fs)
NM_000274.4(OAT):c.192_193del (p.Gly65fs) rs386833600
NM_000274.4(OAT):c.198del (p.Gly67fs) rs1432416419
NM_000274.4(OAT):c.1A>G (p.Met1Val) rs1283361732
NM_000274.4(OAT):c.1del (p.Met1fs)
NM_000274.4(OAT):c.200-36_222del rs1564737136
NM_000274.4(OAT):c.304_305del (p.Lys102fs) rs2134478524
NM_000274.4(OAT):c.3G>A (p.Met1Ile) rs121965034
NM_000274.4(OAT):c.426del (p.Val143fs)
NM_000274.4(OAT):c.468G>A (p.Trp156Ter)
NM_000274.4(OAT):c.498C>G (p.Tyr166Ter)
NM_000274.4(OAT):c.49_52dup (p.Val18fs) rs1554867854
NM_000274.4(OAT):c.515_516del (p.Phe172fs) rs2134476898
NM_000274.4(OAT):c.525del (p.Asn176fs)
NM_000274.4(OAT):c.533G>A (p.Trp178Ter) rs267606923
NM_000274.4(OAT):c.533_537del (p.Phe177_Trp178insTer) rs386833612
NM_000274.4(OAT):c.534G>A (p.Trp178Ter) rs890106099
NM_000274.4(OAT):c.542C>T (p.Thr181Met) rs386833613
NM_000274.4(OAT):c.576del (p.Ser193fs) rs2134465433
NM_000274.4(OAT):c.591dup (p.Gly198fs)
NM_000274.4(OAT):c.627T>A (p.Tyr209Ter) rs121965056
NM_000274.4(OAT):c.661_701del (p.Gln220_Asp221insTer)
NM_000274.4(OAT):c.680_702del (p.Ala226_Phe227insTer) rs2134460074
NM_000274.4(OAT):c.697C>T (p.Gln233Ter)
NM_000274.4(OAT):c.764_771+9delinsTTAGCTGTTTGTATCACACCA
NM_000274.4(OAT):c.776del (p.Leu259fs) rs2134456729
NM_000274.4(OAT):c.780del (p.Phe260fs) rs2134456707
NM_000274.4(OAT):c.783del (p.Ile261fs) rs1195885907
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.900+1G>A rs1589700702
NM_000274.4(OAT):c.952del (p.Glu318fs) rs386833620
NM_000274.4(OAT):c.966del (p.Tyr323fs) rs1951417940
NM_000274.4(OAT):c.97dup (p.Thr33fs) rs1375779674
NM_000274.4(OAT):c.988_991dup (p.Arg331fs)
NM_000321.2(RB1):c.2450_2453delinsTTT (p.Glu817fs) rs1555294626
NM_000321.3(RB1):c.-198G>A rs387906521
NM_000321.3(RB1):c.1005del (p.Leu335fs)
NM_000321.3(RB1):c.100G>T (p.Glu34Ter) rs2138027798
NM_000321.3(RB1):c.103C>T (p.Gln35Ter) rs587778869
NM_000321.3(RB1):c.1049+1G>A rs587776782
NM_000321.3(RB1):c.1049+2T>A rs41287453
NM_000321.3(RB1):c.1049+3A>G rs1566194415
NM_000321.3(RB1):c.1053del (p.Phe351fs) rs1952726441
NM_000321.3(RB1):c.1054del (p.Glu352fs) rs1952726482
NM_000321.3(RB1):c.1060_1061del (p.Gln354fs) rs587778829
NM_000321.3(RB1):c.1072C>T (p.Arg358Ter) rs121913301
NM_000321.3(RB1):c.109dup (p.Ser37fs)
NM_000321.3(RB1):c.110_122del (p.Ser37fs)
NM_000321.3(RB1):c.1128-1G>A rs2138130852
NM_000321.3(RB1):c.1128-2A>T
NM_000321.3(RB1):c.1131del (p.Val378fs)
NM_000321.3(RB1):c.1154T>G (p.Leu385Ter) rs878853947
NM_000321.3(RB1):c.1166dup (p.Leu389fs) rs2138131106
NM_000321.3(RB1):c.1183C>T (p.Gln395Ter) rs1566196458
NM_000321.3(RB1):c.118G>T (p.Glu40Ter) rs1593412262
NM_000321.3(RB1):c.1190C>A (p.Ser397Ter)
NM_000321.3(RB1):c.1191del (p.Glu398fs) rs727504121
NM_000321.3(RB1):c.1215+1G>A rs587776783
NM_000321.3(RB1):c.1215+2T>A
NM_000321.3(RB1):c.1215+2T>G rs1060503074
NM_000321.3(RB1):c.1216-1G>A rs587778831
NM_000321.3(RB1):c.1237G>T (p.Glu413Ter) rs2138136261
NM_000321.3(RB1):c.1239_1240del (p.Ser414fs) rs1555286220
NM_000321.3(RB1):c.1247del (p.Leu416fs) rs2138136325
NM_000321.3(RB1):c.1257del (p.Lys420fs) rs1952831606
NM_000321.3(RB1):c.1275_1279dup (p.Lys427fs) rs1952831740
NM_000321.3(RB1):c.1278_1279insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCGGCGGGGCCGGCGGAAGAAGGCGGTGGCGGGGCCCTGCCCCGCTCCGGCTGTGGCGCGGCCCGCGCCCGTTCCAGGATACATCTTT (p.Lys427delinsPhePhePhePhePhePheXaaXaaXaaXaaAlaAlaGlyProAlaGluGluGlyGlyGlyGlyAlaLeuProArgSerGlyCysGlyAlaAlaArgAlaArgSerArgIleHisLeuTer)
NM_000321.3(RB1):c.1278dup (p.Lys427Ter) rs1555286236
NM_000321.3(RB1):c.1281del (p.Glu428fs) rs2138136497
NM_000321.3(RB1):c.131_132del (p.Leu44fs)
NM_000321.3(RB1):c.1328C>A (p.Ser443Ter) rs1060503079
NM_000321.3(RB1):c.1331_1332dup (p.Arg445fs) rs1593454115
NM_000321.3(RB1):c.1332+1G>A rs587778846
NM_000321.3(RB1):c.1332G>A (p.Gln444=) rs1555286250
NM_000321.3(RB1):c.1332G>C (p.Gln444His) rs1555286250
NM_000321.3(RB1):c.1333-1G>A rs2138140730
NM_000321.3(RB1):c.1333-1G>C rs2138140730
NM_000321.3(RB1):c.1333-2A>G rs1555286503
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter) rs3092891
NM_000321.3(RB1):c.1339A>T (p.Lys447Ter)
NM_000321.3(RB1):c.1341del (p.Lys447fs)
NM_000321.3(RB1):c.1345G>A (p.Gly449Arg) rs1131690851
NM_000321.3(RB1):c.1346G>A (p.Gly449Glu)
NM_000321.3(RB1):c.1346dup (p.Val450fs) rs1948513922
NM_000321.3(RB1):c.1355T>A (p.Leu452Ter)
NM_000321.3(RB1):c.1355dup (p.Leu452fs)
NM_000321.3(RB1):c.1360del (p.Tyr454fs) rs2138140923
NM_000321.3(RB1):c.136del (p.Arg46fs)
NM_000321.3(RB1):c.137+1G>A rs1131690855
NM_000321.3(RB1):c.137+2T>G
NM_000321.3(RB1):c.1372G>T (p.Glu458Ter) rs1131690884
NM_000321.3(RB1):c.138-1G>A rs1593414337
NM_000321.3(RB1):c.138-2A>G
NM_000321.3(RB1):c.1389+1G>C rs1060503087
NM_000321.3(RB1):c.1389+1G>T rs1060503087
NM_000321.3(RB1):c.1389+2T>A
NM_000321.3(RB1):c.1390-14A>G rs9535023
NM_000321.3(RB1):c.1390-2A>C rs1555286568
NM_000321.3(RB1):c.1390-2A>G rs1555286568
NM_000321.3(RB1):c.1392del (p.Glu465fs) rs1948519774
NM_000321.3(RB1):c.1399C>T (p.Arg467Ter) rs398123331
NM_000321.3(RB1):c.1419del (p.Phe473fs) rs1555286573
NM_000321.3(RB1):c.1421+12_1456del rs2138142421
NM_000321.3(RB1):c.1421+1G>C rs1131690886
NM_000321.3(RB1):c.1421_1421+9delinsCTTTTAGTAAAAAATTTACTTTTAGTAAAATTTTACTTTTAGTAAAATTTTAGTAAAAATTTACTTTTAGTAAAAAA
NM_000321.3(RB1):c.1422-1G>A rs1461382798
NM_000321.3(RB1):c.1422-2A>G rs1395304450
NM_000321.3(RB1):c.1423A>T (p.Lys475Ter)
NM_000321.3(RB1):c.142G>T (p.Glu48Ter)
NM_000321.3(RB1):c.1436ACA[1] (p.Asn480del) rs587776788
NM_000321.3(RB1):c.1445_1446del (p.Phe482fs) rs1566199059
NM_000321.3(RB1):c.1450_1451del (p.Met484fs) rs1948522792
NM_000321.3(RB1):c.1454_1457del (p.Ser485fs) rs1948522929
NM_000321.3(RB1):c.1458del (p.Leu486fs) rs1555286611
NM_000321.3(RB1):c.1493_1498+86del rs2138143170
NM_000321.3(RB1):c.1494T>G (p.Tyr498Ter) rs768929728
NM_000321.3(RB1):c.1498+5G>A rs1566199125
NM_000321.3(RB1):c.1499-1G>T
NM_000321.3(RB1):c.1499-2A>C rs1258442224
NM_000321.3(RB1):c.1510C>T (p.Gln504Ter) rs886043247
NM_000321.3(RB1):c.1512_1513del (p.Asn505fs) rs1593456963
NM_000321.3(RB1):c.1519_1523dup (p.Gly509fs) rs2138144919
NM_000321.3(RB1):c.1524del (p.Gly509fs)
NM_000321.3(RB1):c.1532dup (p.Asp511fs) rs2138144988
NM_000321.3(RB1):c.1554_1561del (p.Leu518_Asn519insTer)
NM_000321.3(RB1):c.1567_1568dup (p.Leu523fs) rs1948533760
NM_000321.3(RB1):c.1568T>G (p.Leu523Ter)
NM_000321.3(RB1):c.1572del (p.Ala525fs) rs2138145163
NM_000321.3(RB1):c.1572dup (p.Ala525fs)
NM_000321.3(RB1):c.157_158del (p.Glu53fs)
NM_000321.3(RB1):c.1584_1585insCACTT (p.Tyr529fs) rs1948533963
NM_000321.3(RB1):c.1587C>A (p.Tyr529Ter)
NM_000321.3(RB1):c.1597G>T (p.Glu533Ter) rs1237070816
NM_000321.3(RB1):c.1625T>A (p.Leu542Ter) rs1593457065
NM_000321.3(RB1):c.1629_1630del (p.Glu545fs) rs1593457070
NM_000321.3(RB1):c.1633G>T (p.Glu545Ter) rs1948534542
NM_000321.3(RB1):c.1633_1640del (p.Glu545fs) rs1555286695
NM_000321.3(RB1):c.1635_1636del (p.Glu545fs)
NM_000321.3(RB1):c.1654C>T (p.Arg552Ter) rs121913303
NM_000321.3(RB1):c.1659T>A (p.Cys553Ter) rs1593457108
NM_000321.3(RB1):c.1666C>T (p.Arg556Ter) rs121913304
NM_000321.3(RB1):c.1673_1674dup (p.Glu559fs) rs1555286707
NM_000321.3(RB1):c.1675del (p.Glu559fs) rs2138145739
NM_000321.3(RB1):c.1686dup (p.Trp563fs) rs1593457156
NM_000321.3(RB1):c.1695+1G>T
NM_000321.3(RB1):c.1695+2T>G rs2138145859
NM_000321.3(RB1):c.1696-12T>G rs1060503088
NM_000321.3(RB1):c.1696-1G>A rs794727199
NM_000321.3(RB1):c.1700C>G (p.Ser567Ter)
NM_000321.3(RB1):c.1723C>T (p.Gln575Ter) rs587778864
NM_000321.3(RB1):c.1735C>T (p.Arg579Ter) rs121913305
NM_000321.3(RB1):c.1743dup (p.Pro582fs) rs2138327123
NM_000321.3(RB1):c.1778dup (p.Asn593fs)
NM_000321.3(RB1):c.1789C>T (p.Gln597Ter) rs1566233076
NM_000321.3(RB1):c.179T>G (p.Leu60Ter)
NM_000321.3(RB1):c.1814+3A>C rs376886420
NM_000321.3(RB1):c.184C>T (p.Gln62Ter) rs2138034088
NM_000321.3(RB1):c.1887_1888del (p.Glu629fs) rs2138331297
NM_000321.3(RB1):c.1890_1893del (p.Ala632fs) rs2138331328
NM_000321.3(RB1):c.1891C>T (p.Gln631Ter) rs1217977493
NM_000321.3(RB1):c.1891_1892del (p.Gln631fs)
NM_000321.3(RB1):c.1915C>T (p.Gln639Ter) rs1949359779
NM_000321.3(RB1):c.191T>G (p.Leu64Ter) rs2138034131
NM_000321.3(RB1):c.1928_1929dup (p.Ser644fs)
NM_000321.3(RB1):c.1937_1940del (p.Ser646fs) rs2138331562
NM_000321.3(RB1):c.1940_1943del (p.Leu647fs) rs2138331576
NM_000321.3(RB1):c.1943C>G (p.Ser648Ter)
NM_000321.3(RB1):c.1950_1953del (p.Phe650fs) rs1593532084
NM_000321.3(RB1):c.1959del (p.Val654fs)
NM_000321.3(RB1):c.1959dup (p.Val654fs) rs1566234123
NM_000321.3(RB1):c.1960+1G>C rs1949360306
NM_000321.3(RB1):c.1960+1G>T rs1949360306
NM_000321.3(RB1):c.1960+2T>A
NM_000321.3(RB1):c.1960+2T>G rs587776780
NM_000321.3(RB1):c.1960+5G>C rs587778871
NM_000321.3(RB1):c.1960G>A (p.Val654Met) rs483352690
NM_000321.3(RB1):c.1960G>C (p.Val654Leu) rs483352690
NM_000321.3(RB1):c.1960_1960+1insC rs1593532101
NM_000321.3(RB1):c.1961-17_1965del
NM_000321.3(RB1):c.1961-1G>T rs1949383286
NM_000321.3(RB1):c.1961-293_1987del
NM_000321.3(RB1):c.1961-2A>G
NM_000321.3(RB1):c.1978_1996del (p.Leu660fs) rs1593534586
NM_000321.3(RB1):c.19del (p.Arg7fs) rs1131690852
NM_000321.3(RB1):c.19dup (p.Arg7fs) rs1131690852
NM_000321.3(RB1):c.2013dup (p.Glu672Ter) rs2138336089
NM_000321.3(RB1):c.2027T>A (p.Leu676Ter) rs1566235448
NM_000321.3(RB1):c.2027T>G (p.Leu676Ter) rs1566235448
NM_000321.3(RB1):c.2029G>T (p.Glu677Ter) rs1060503067
NM_000321.3(RB1):c.2042G>A (p.Trp681Ter)
NM_000321.3(RB1):c.2053C>T (p.Gln685Ter) rs878853949
NM_000321.3(RB1):c.2059_2066dup (p.Asn690fs)
NM_000321.3(RB1):c.2065C>T (p.Gln689Ter) rs1566235470
NM_000321.3(RB1):c.2099dup (p.Leu700fs)
NM_000321.3(RB1):c.2106+1G>A rs1949385207
NM_000321.3(RB1):c.2106+1G>C rs1949385207
NM_000321.3(RB1):c.2106+2T>A rs1566235515
NM_000321.3(RB1):c.2106+2T>C rs1566235515
NM_000321.3(RB1):c.2107-2A>G rs1593538130
NM_000321.3(RB1):c.2117G>A (p.Cys706Tyr)
NM_000321.3(RB1):c.2131dup (p.Ile711fs) rs1593538155
NM_000321.3(RB1):c.2134T>C (p.Cys712Arg) rs137853296
NM_000321.3(RB1):c.2138_2139del (p.Lys713fs)
NM_000321.3(RB1):c.2152del (p.Asp718fs)
NM_000321.3(RB1):c.2160_2167delinsC (p.Lys720fs) rs1593538175
NM_000321.3(RB1):c.2172dup (p.Val725fs) rs1566237098
NM_000321.3(RB1):c.2173_2174dup (p.Val725_Thr726insTer) rs2138342499
NM_000321.3(RB1):c.217_220del (p.Arg73fs)
NM_000321.3(RB1):c.2188_2189insTT (p.Asp730fs)
NM_000321.3(RB1):c.2194_2197del (p.Pro732fs) rs1060503075
NM_000321.3(RB1):c.219_220del (p.Arg73fs) rs587778862
NM_000321.3(RB1):c.21_22insT (p.Lys8Ter)
NM_000321.3(RB1):c.2206C>T (p.Gln736Ter) rs1593538220
NM_000321.3(RB1):c.220del (p.Ala74fs)
NM_000321.3(RB1):c.2211+1G>A rs1949420231
NM_000321.3(RB1):c.2211+1G>T rs1949420231
NM_000321.3(RB1):c.2211+2T>C rs2138342748
NM_000321.3(RB1):c.2211+5G>A rs1593538236
NM_000321.3(RB1):c.2211G>T (p.Glu737Asp) rs587776787
NM_000321.3(RB1):c.2212-14C>G
NM_000321.3(RB1):c.2212-1G>C rs587776786
NM_000321.3(RB1):c.2236G>T (p.Glu746Ter) rs958914211
NM_000321.3(RB1):c.2238del (p.Glu747fs) rs1949430414
NM_000321.3(RB1):c.2247_2248insAA (p.Asp750fs) rs1555294600
NM_000321.3(RB1):c.2280del (p.Phe760fs) rs2138344869
NM_000321.3(RB1):c.2284C>T (p.Gln762Ter) rs1593539225
NM_000321.3(RB1):c.229_232del (p.Thr77fs) rs2138034389
NM_000321.3(RB1):c.2308C>T (p.Gln770Ter) rs2138344987
NM_000321.3(RB1):c.2325+1G>A rs1131690882
NM_000321.3(RB1):c.2325+1G>C rs1131690882
NM_000321.3(RB1):c.2326-1G>A
NM_000321.3(RB1):c.2326-2A>G rs1949432057
NM_000321.3(RB1):c.2339C>G (p.Ser780Ter) rs1593539366
NM_000321.3(RB1):c.234G>A (p.Trp78Ter) rs2138034427
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter) rs137853293
NM_000321.3(RB1):c.2384_2390del (p.Ser795fs) rs2138345718
NM_000321.3(RB1):c.2388del (p.Leu797fs) rs869264218
NM_000321.3(RB1):c.2401G>T (p.Gly801Ter)
NM_000321.3(RB1):c.2405_2414del (p.Gly802fs) rs1593539435
NM_000321.3(RB1):c.2408del (p.Asn803fs) rs1949433098
NM_000321.3(RB1):c.240del (p.Val81fs)
NM_000321.3(RB1):c.2420C>G (p.Ser807Ter) rs2138345919
NM_000321.3(RB1):c.2428A>T (p.Lys810Ter) rs1949433250
NM_000321.3(RB1):c.2435del (p.Pro812fs) rs1949433358
NM_000321.3(RB1):c.2447C>G (p.Ser816Ter)
NM_000321.3(RB1):c.245C>A (p.Ser82Ter) rs755704180
NM_000321.3(RB1):c.245C>G (p.Ser82Ter)
NM_000321.3(RB1):c.2473dup (p.Met825fs) rs1593539538
NM_000321.3(RB1):c.2489+1G>A rs764754259
NM_000321.3(RB1):c.2489+2T>C rs1555294636
NM_000321.3(RB1):c.2490-1_2490del rs1593544647
NM_000321.3(RB1):c.24_61del (p.Lys8fs)
NM_000321.3(RB1):c.2501C>A (p.Ser834Ter) rs1131690906
NM_000321.3(RB1):c.2513C>G (p.Ser838Ter) rs1131690908
NM_000321.3(RB1):c.2520+1G>A rs587778850
NM_000321.3(RB1):c.2520+1G>T rs587778850
NM_000321.3(RB1):c.2520+3_2520+6del rs1131690858
NM_000321.3(RB1):c.2520+5G>A rs1131690881
NM_000321.3(RB1):c.2520+5G>C rs1131690881
NM_000321.3(RB1):c.2520+5G>T rs1131690881
NM_000321.3(RB1):c.2593G>T (p.Gly865Ter) rs1949506548
NM_000321.3(RB1):c.264+1G>A rs1131690907
NM_000321.3(RB1):c.264+1G>C
NM_000321.3(RB1):c.264+1G>T rs1131690907
NM_000321.3(RB1):c.2663+1G>T rs2138359672
NM_000321.3(RB1):c.2663G>A (p.Ser888Asn) rs1555295354
NM_000321.3(RB1):c.272_276del (p.Tyr91fs) rs1593434175
NM_000321.3(RB1):c.283A>T (p.Lys95Ter) rs1555282775
NM_000321.3(RB1):c.287dup (p.Glu97fs)
NM_000321.3(RB1):c.295_296dup (p.Trp99fs) rs1952455844
NM_000321.3(RB1):c.297G>A (p.Trp99Ter) rs794727481
NM_000321.3(RB1):c.297_298insA (p.Gly100fs) rs1566186087
NM_000321.3(RB1):c.305_306del (p.Cys102fs) rs587778825
NM_000321.3(RB1):c.306dup (p.Ile103fs)
NM_000321.3(RB1):c.309_312del (p.Phe104fs) rs1952456105
NM_000321.3(RB1):c.32_63del (p.Ala11fs) rs1593411974
NM_000321.3(RB1):c.34_71del (p.Thr12fs) rs2138027150
NM_000321.3(RB1):c.36del (p.Ala13fs) rs1566174065
NM_000321.3(RB1):c.371_372del (p.Ile124fs) rs1566186125
NM_000321.3(RB1):c.376del (p.Ile126fs) rs886042357
NM_000321.3(RB1):c.377del (p.Ile126fs) rs2138084130
NM_000321.3(RB1):c.37_65del (p.Ala13fs) rs1064792974
NM_000321.3(RB1):c.380+1G>A rs1131690902
NM_000321.3(RB1):c.380+2T>G
NM_000321.3(RB1):c.380+3A>T rs1555282811
NM_000321.3(RB1):c.381-2A>G rs1952480014
NM_000321.3(RB1):c.388A>T (p.Lys130Ter) rs1566186840
NM_000321.3(RB1):c.390del (p.Lys130fs) rs2138087163
NM_000321.3(RB1):c.399del (p.Leu134fs) rs2138087235
NM_000321.3(RB1):c.409G>T (p.Glu137Ter) rs121913296
NM_000321.3(RB1):c.417del (p.Asp139fs) rs2138087348
NM_000321.3(RB1):c.428_437del (p.Lys143fs)
NM_000321.3(RB1):c.43_80del (p.Ala15fs) rs2138027218
NM_000321.3(RB1):c.459del (p.Lys154fs) rs2138087628
NM_000321.3(RB1):c.45_70dup (p.Pro24fs) rs1566174074
NM_000321.3(RB1):c.45_76del (p.Ala17fs) rs1593412002
NM_000321.3(RB1):c.45_79del (p.Ala16fs) rs2138027212
NM_000321.3(RB1):c.465_468dup (p.Val157Ter) rs1566186889
NM_000321.3(RB1):c.46_61GCC[2]GCGGAACCCCAGGCACCGCCGCCGCCGCCGCCGCGGAACCCC[1] (p.Pro21fs) rs2138027345
NM_000321.3(RB1):c.49_80dup (p.Pro29fs)
NM_000321.3(RB1):c.500+1G>T rs1131690880
NM_000321.3(RB1):c.500+2T>C rs2138087877
NM_000321.3(RB1):c.506dup (p.Cys169fs) rs2138091538
NM_000321.3(RB1):c.510del (p.Glu170fs) rs1555283482
NM_000321.3(RB1):c.517_518insTCGAT (p.Tyr173fs)
NM_000321.3(RB1):c.526_532del (p.Gln176fs) rs1952511865
NM_000321.3(RB1):c.540-1G>A
NM_000321.3(RB1):c.542dup (p.Ser182fs)
NM_000321.3(RB1):c.54_73dup (p.Pro25fs) rs1555279212
NM_000321.3(RB1):c.54_76dup (p.Pro26fs) rs1555279210
NM_000321.3(RB1):c.566T>A (p.Leu189Ter) rs2138093555
NM_000321.3(RB1):c.596T>A (p.Leu199Ter) rs121913298
NM_000321.3(RB1):c.596del (p.Leu199fs) rs2138093700
NM_000321.3(RB1):c.597del (p.Leu199fs) rs2138093727
NM_000321.3(RB1):c.59_71del (p.Pro20fs) rs1952053203
NM_000321.3(RB1):c.606del (p.Glu204fs) rs1593438023
NM_000321.3(RB1):c.607+1G>A rs587776789
NM_000321.3(RB1):c.607+1G>C rs587776789
NM_000321.3(RB1):c.607+1G>T rs587776789
NM_000321.3(RB1):c.607+2dup rs1131690895
NM_000321.3(RB1):c.610G>T (p.Glu204Ter) rs1340261233
NM_000321.3(RB1):c.610del
NM_000321.3(RB1):c.62dup (p.Ala22fs) rs1469887040
NM_000321.3(RB1):c.644C>A (p.Ser215Ter) rs768305224
NM_000321.3(RB1):c.644C>G (p.Ser215Ter)
NM_000321.3(RB1):c.686_689dup (p.Pro231fs)
NM_000321.3(RB1):c.689C>G (p.Ser230Ter)
NM_000321.3(RB1):c.709G>T (p.Glu237Ter) rs1131690904
NM_000321.3(RB1):c.726dup (p.Val243fs) rs1593445096
NM_000321.3(RB1):c.751C>T (p.Arg251Ter) rs1131690863
NM_000321.3(RB1):c.763C>T (p.Arg255Ter) rs587778842
NM_000321.3(RB1):c.771_772del (p.Asn258fs)
NM_000321.3(RB1):c.772_776del (p.Asn258fs) rs1566192530
NM_000321.3(RB1):c.787del (p.Arg262_Ile263insTer) rs2138112461
NM_000321.3(RB1):c.796C>T (p.Gln266Ter)
NM_000321.3(RB1):c.800del (p.Leu267fs) rs1566192557
NM_000321.3(RB1):c.83del (p.Pro28fs) rs1276653645
NM_000321.3(RB1):c.849_856del (p.Cys283_Asp286delinsTer) rs1593445220
NM_000321.3(RB1):c.857A>G (p.Asp286Gly) rs1131690864
NM_000321.3(RB1):c.859G>T (p.Glu287Ter) rs1593445246
NM_000321.3(RB1):c.861+1G>A
NM_000321.3(RB1):c.861G>A (p.Glu287=) rs1555284956
NM_000321.3(RB1):c.861G>C (p.Glu287Asp) rs1555284956
NM_000321.3(RB1):c.862-1G>C rs2138116265
NM_000321.3(RB1):c.862-2A>G
NM_000321.3(RB1):c.869del (p.Asn290fs) rs1131690901
NM_000321.3(RB1):c.939+1G>C rs2138116708
NM_000321.3(RB1):c.939+2T>C rs1952680837
NM_000321.3(RB1):c.940-1G>A rs1131690860
NM_000321.3(RB1):c.940-1G>T rs1131690860
NM_000321.3(RB1):c.951_954del (p.Ser318fs) rs1566194323
NM_000321.3(RB1):c.958C>T (p.Arg320Ter) rs121913300
NM_000321.3(RB1):c.963C>G (p.Tyr321Ter) rs377235036
NM_000321.3(RB1):c.967G>T (p.Glu323Ter) rs1060503077
NM_000321.3(RB1):c.983del (p.Asn328fs) rs2138121175
NM_000321.3(RB1):c.983dup (p.Asn328fs) rs2138121175
NM_000321.3(RB1):c.98dup (p.Glu34fs) rs1952054473
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) rs62642583
NM_000329.3(RPE65):c.1002del (p.Phe334fs)
NM_000329.3(RPE65):c.1028T>G (p.Leu343Ter) rs2100817136
NM_000329.3(RPE65):c.1039C>T (p.Arg347Cys)
NM_000329.3(RPE65):c.1059dup (p.Lys354fs) rs2100817031
NM_000329.3(RPE65):c.1067del (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.1067dup (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.1078G>C (p.Ala360Pro) rs62646883
NM_000329.3(RPE65):c.10C>T (p.Gln4Ter)
NM_000329.3(RPE65):c.10del (p.Gln4fs) rs747393487
NM_000329.3(RPE65):c.1115dup (p.Leu372fs) rs2100816844
NM_000329.3(RPE65):c.1148T>G (p.Leu383Ter)
NM_000329.3(RPE65):c.1207_1210dup (p.Glu404fs) rs62636295
NM_000329.3(RPE65):c.1243G>A (p.Ala415Thr) rs1571158755
NM_000329.3(RPE65):c.1269C>A (p.Tyr423Ter)
NM_000329.3(RPE65):c.1282_1303del (p.Gly428fs)
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys) rs62636300
NM_000329.3(RPE65):c.1293C>A (p.Tyr431Ter)
NM_000329.3(RPE65):c.1299T>A (p.Tyr433Ter)
NM_000329.3(RPE65):c.131G>C (p.Arg44Pro)
NM_000329.3(RPE65):c.1338+1G>A rs1057518922
NM_000329.3(RPE65):c.1360del (p.Thr454fs) rs2100807036
NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter) rs1645823028
NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter) rs62637006
NM_000329.3(RPE65):c.1396_1397dup (p.Pro467fs)
NM_000329.3(RPE65):c.1398C>A (p.Tyr466Ter)
NM_000329.3(RPE65):c.1409C>T (p.Pro470Leu) rs774211361
NM_000329.3(RPE65):c.142_143del (p.Gly48fs)
NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly) rs1571158279
NM_000329.3(RPE65):c.1451-1G>A rs1317871521
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp) rs62653015
NM_000329.3(RPE65):c.1459del (p.Val486_Leu487insTer)
NM_000329.3(RPE65):c.147_148insCAAA (p.Phe50fs) rs1645945978
NM_000329.3(RPE65):c.1501_1505del (p.Tyr501fs) rs2100805193
NM_000329.3(RPE65):c.1590C>A (p.Phe530Leu) rs2100804954
NM_000329.3(RPE65):c.1590del (p.Phe530fs) rs281865292
NM_000329.3(RPE65):c.200T>G (p.Leu67Arg) rs1344724754
NM_000329.3(RPE65):c.246-11A>G rs905365719
NM_000329.3(RPE65):c.247T>C (p.Phe83Leu) rs2100828545
NM_000329.3(RPE65):c.311G>A (p.Gly104Asp)
NM_000329.3(RPE65):c.336C>A (p.Cys112Ter)
NM_000329.3(RPE65):c.34dup (p.Tyr12fs)
NM_000329.3(RPE65):c.361del (p.Ser121fs) rs121918844
NM_000329.3(RPE65):c.361dup (p.Ser121fs) rs121918844
NM_000329.3(RPE65):c.366C>A (p.Tyr122Ter)
NM_000329.3(RPE65):c.3G>A (p.Met1Ile) rs1357241537
NM_000329.3(RPE65):c.405T>A (p.Asn135Lys) rs1645928294
NM_000329.3(RPE65):c.411C>A (p.Tyr137Ter)
NM_000329.3(RPE65):c.411C>G (p.Tyr137Ter)
NM_000329.3(RPE65):c.421G>T (p.Glu141Ter) rs1469460289
NM_000329.3(RPE65):c.430T>G (p.Tyr144Asp) rs61752880
NM_000329.3(RPE65):c.432C>G (p.Tyr144Ter) rs56021047
NM_000329.3(RPE65):c.440_441del (p.Thr147fs) rs1201299067
NM_000329.3(RPE65):c.46_49del (p.Phe16fs) rs866809120
NM_000329.3(RPE65):c.495+1dup rs281865288
NM_000329.3(RPE65):c.504_580del (p.Cys169fs) rs2100821707
NM_000329.3(RPE65):c.507C>A (p.Cys169Ter) rs1645898563
NM_000329.3(RPE65):c.513T>A (p.Tyr171Ter)
NM_000329.3(RPE65):c.528_529del (p.Ala177fs) rs2100821898
NM_000329.3(RPE65):c.544C>T (p.His182Tyr) rs61752884
NM_000329.3(RPE65):c.545A>G (p.His182Arg) rs1459110114
NM_000329.3(RPE65):c.596del (p.Asn199fs)
NM_000329.3(RPE65):c.601del (p.Ser201fs)
NM_000329.3(RPE65):c.615_616del (p.Ile206fs) rs61752888
NM_000329.3(RPE65):c.61G>T (p.Glu21Ter)
NM_000329.3(RPE65):c.61del (p.Glu21fs) rs758550330
NM_000329.3(RPE65):c.637C>T (p.Gln213Ter) rs777966849
NM_000329.3(RPE65):c.644-1G>A
NM_000329.3(RPE65):c.646A>T (p.Lys216Ter)
NM_000329.3(RPE65):c.672_673del (p.Glu224fs)
NM_000329.3(RPE65):c.706A>T (p.Lys236Ter) rs1645885900
NM_000329.3(RPE65):c.716dup (p.Tyr239Ter)
NM_000329.3(RPE65):c.717C>G (p.Tyr239Ter)
NM_000329.3(RPE65):c.725+1G>A rs1260969698
NM_000329.3(RPE65):c.725+1G>T
NM_000329.3(RPE65):c.725+2T>C rs1355979496
NM_000329.3(RPE65):c.726-1G>A
NM_000329.3(RPE65):c.726-2A>C rs878853372
NM_000329.3(RPE65):c.726-2A>T rs878853372
NM_000329.3(RPE65):c.746A>G (p.Tyr249Cys) rs373652862
NM_000329.3(RPE65):c.750del (p.Ile250fs)
NM_000329.3(RPE65):c.755T>C (p.Phe252Ser) rs1553153135
NM_000329.3(RPE65):c.775dup (p.Ile259fs) rs2100819197
NM_000329.3(RPE65):c.777dup (p.Asn260Ter) rs2100819190
NM_000329.3(RPE65):c.803G>A (p.Trp268Ter)
NM_000329.3(RPE65):c.825C>G (p.Tyr275Ter) rs988133284
NM_000329.3(RPE65):c.829_833del (p.Asp277fs) rs1645882447
NM_000329.3(RPE65):c.858+1G>A rs61752899
NM_000329.3(RPE65):c.858+1G>C
NM_000329.3(RPE65):c.858+1G>T rs61752899
NM_000329.3(RPE65):c.886del (p.Arg296fs) rs746127684
NM_000329.3(RPE65):c.886dup (p.Arg296fs) rs746127684
NM_000329.3(RPE65):c.893del (p.Lys298fs) rs61752902
NM_000329.3(RPE65):c.89dup (p.Thr31fs) rs281865286
NM_000329.3(RPE65):c.912C>G (p.Tyr304Ter) rs2100818575
NM_000329.3(RPE65):c.943_950del (p.Ile315fs) rs2100818444
NM_000329.3(RPE65):c.94G>T (p.Gly32Cys) rs768448761
NM_000329.3(RPE65):c.95-1G>C
NM_000329.3(RPE65):c.962dup (p.Asn321fs) rs61752906
NM_000329.3(RPE65):c.982C>T (p.Leu328Phe) rs1169420841
NM_000329.3(RPE65):c.985del (p.Cys329fs)
NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr) rs61752908
NM_000329.3(RPE65):c.991_993dup (p.Trp331dup) rs1571165140
NM_000329.3(RPE65):c.998+1G>A rs1645879495
NM_000329.3(RPE65):c.999-2A>G
NM_000554.6(CRX):c.100+2T>G
NM_000554.6(CRX):c.100+3_100+5delinsTTA rs1064796109
NM_000554.6(CRX):c.101-1G>T rs1968115710
NM_000554.6(CRX):c.116_127del (p.Gln39_Glu42del)
NM_000554.6(CRX):c.124G>A (p.Glu42Lys) rs863224863
NM_000554.6(CRX):c.127C>T (p.Arg43Cys) rs1437021651
NM_000554.6(CRX):c.152_153del (p.Leu51fs) rs1968116898
NM_000554.6(CRX):c.159del (p.Glu53fs)
NM_000554.6(CRX):c.238G>A (p.Glu80Lys) rs62654391
NM_000554.6(CRX):c.239A>C (p.Glu80Ala) rs104894671
NM_000554.6(CRX):c.262_275del (p.Phe87_Lys88insTer) rs1968160841
NM_000554.6(CRX):c.292C>T (p.Arg98Ter) rs751018117
NM_000554.6(CRX):c.404del (p.Pro135fs) rs1064797246
NM_000554.6(CRX):c.431_434del (p.Pro144fs) rs1968165008
NM_000554.6(CRX):c.447dup (p.Ser150fs) rs61748444
NM_000554.6(CRX):c.449C>G (p.Ser150Ter) rs864309706
NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer) rs1599991611
NM_000554.6(CRX):c.500del (p.Ala166_Ser167insTer)
NM_000554.6(CRX):c.512del (p.Leu171fs) rs1968166909
NM_000554.6(CRX):c.523C>T (p.Gln175Ter) rs1968167093
NM_000554.6(CRX):c.534_538del (p.Leu179fs)
NM_000554.6(CRX):c.549dup (p.Pro184fs)
NM_000554.6(CRX):c.551dup (p.Ser185fs)
NM_000554.6(CRX):c.569_570del (p.Pro190fs)
NM_000554.6(CRX):c.571del (p.Tyr191fs) rs61748452
NM_000554.6(CRX):c.590del (p.Pro197fs) rs1968169100
NM_000554.6(CRX):c.606C>A (p.Cys202Ter)
NM_000554.6(CRX):c.615del (p.Ser206fs) rs281865516
NM_000554.6(CRX):c.624T>G (p.Tyr208Ter) rs2123743395
NM_000554.6(CRX):c.661_*3038del (p.Tyr221fs)
NM_000554.6(CRX):c.661del (p.Tyr221fs) rs864309708
NM_000554.6(CRX):c.682C>T (p.Gln228Ter)
NM_000554.6(CRX):c.692_716del (p.Gly231fs)
NM_000554.6(CRX):c.714del (p.Gly239fs)
NM_000554.6(CRX):c.76_80del (p.Met26fs) rs2123738324
NM_001164688.2(RD3):c.112C>T (p.Arg38Ter) rs786205148
NM_001164688.2(RD3):c.13_14del (p.Ser5fs) rs761112550
NM_001164688.2(RD3):c.238C>T (p.Gln80Ter)
NM_001164688.2(RD3):c.296+1G>T rs386834260
NM_001164688.2(RD3):c.38del (p.Pro13fs)
NM_001278293.3(ARL6):c.127C>T (p.Gln43Ter)
NM_001278293.3(ARL6):c.185+1G>C rs1559679965
NM_001278293.3(ARL6):c.188T>A (p.Leu63Ter)
NM_001278293.3(ARL6):c.1A>G (p.Met1Val) rs2107977736
NM_001278293.3(ARL6):c.228C>A (p.Tyr76Ter)
NM_001278293.3(ARL6):c.228C>G (p.Tyr76Ter) rs2037147164
NM_001278293.3(ARL6):c.252T>G (p.Tyr84Ter)
NM_001278293.3(ARL6):c.262C>T (p.Gln88Ter)
NM_001278293.3(ARL6):c.373dup (p.Ile125fs) rs2037541934
NM_001278293.3(ARL6):c.406_409del (p.Asp136fs)
NM_001278293.3(ARL6):c.469del (p.Trp157fs)
NM_001278293.3(ARL6):c.4G>T (p.Gly2Ter) rs771628868
NM_001278293.3(ARL6):c.506del (p.Gly169fs) rs1402463567
NM_001278293.3(ARL6):c.534A>G (p.Gln178=)
NM_001278293.3(ARL6):c.66C>A (p.Cys22Ter)
NM_001278293.3(ARL6):c.92C>T (p.Thr31Met) rs104893680
NM_001285403.4(AIPL1):c.466-24_466-21del
NM_001376.5(DYNC1H1):c.10016G>A (p.Arg3339His) rs2152591288
NM_001376.5(DYNC1H1):c.10031G>A (p.Arg3344Gln) rs397509412
NM_001376.5(DYNC1H1):c.10420C>T (p.Arg3474Trp) rs757725348
NM_001376.5(DYNC1H1):c.11015C>T (p.Ser3672Leu) rs2152594747
NM_001376.5(DYNC1H1):c.1396A>G (p.Met466Val) rs2141272574
NM_001376.5(DYNC1H1):c.1678G>A (p.Val560Met) rs2047931446
NM_001376.5(DYNC1H1):c.1739A>C (p.Glu580Ala) rs2141274671
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001376.5(DYNC1H1):c.1793G>T (p.Arg598Leu) rs879254085
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu) rs1057518083
NM_001376.5(DYNC1H1):c.3185A>C (p.Asp1062Ala)
NM_001376.5(DYNC1H1):c.3269G>A (p.Arg1090Lys)
NM_001376.5(DYNC1H1):c.3814C>T (p.Arg1272Cys) rs2141284990
NM_001376.5(DYNC1H1):c.4700G>A (p.Arg1567Gln) rs797044901
NM_001376.5(DYNC1H1):c.4868G>A (p.Arg1623Gln) rs1064796765
NM_001376.5(DYNC1H1):c.5035C>T (p.Arg1679Trp) rs1351401023
NM_001376.5(DYNC1H1):c.5884C>T (p.Arg1962Cys) rs879253881
NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys) rs1057518961
NM_001376.5(DYNC1H1):c.751C>A (p.Arg251Ser) rs879253979
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys) rs879253979
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) rs794727634
NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln) rs713993043
NM_001376.5(DYNC1H1):c.874C>T (p.Arg292Trp) rs2047850664
NM_001376.5(DYNC1H1):c.9142G>A (p.Glu3048Lys) rs1555410941
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) rs387906738
NM_001376.5(DYNC1H1):c.926G>A (p.Arg309His) rs797045177
NM_001376.5(DYNC1H1):c.9754AAG[2] (p.Lys3254del) rs797044918
NM_014336.5(AIPL1):c.1010_1011del (p.Glu337fs) rs62637016
NM_014336.5(AIPL1):c.142_145del (p.Val48fs)
NM_014336.5(AIPL1):c.152A>G (p.Asp51Gly)
NM_014336.5(AIPL1):c.1A>G (p.Met1Val)
NM_014336.5(AIPL1):c.211G>T (p.Val71Phe) rs775364986
NM_014336.5(AIPL1):c.215G>A (p.Trp72Ter) rs1468041544
NM_014336.5(AIPL1):c.289_292del (p.Tyr97fs)
NM_014336.5(AIPL1):c.294del (p.Ile99fs) rs1597331616
NM_014336.5(AIPL1):c.2T>C (p.Met1Thr)
NM_014336.5(AIPL1):c.325C>T (p.Gln109Ter) rs1912228419
NM_014336.5(AIPL1):c.364G>A (p.Gly122Arg)
NM_014336.5(AIPL1):c.454G>T (p.Glu152Ter)
NM_014336.5(AIPL1):c.465G>T (p.Gln155His) rs758001091
NM_014336.5(AIPL1):c.487C>T (p.Gln163Ter) rs62637009
NM_014336.5(AIPL1):c.488_498del (p.Gln163fs) rs2150678060
NM_014336.5(AIPL1):c.512dup (p.Asn171fs) rs1912058703
NM_014336.5(AIPL1):c.547G>T (p.Gly183Ter) rs374255033
NM_014336.5(AIPL1):c.572T>C (p.Leu191Pro)
NM_014336.5(AIPL1):c.597dup (p.Lys200fs) rs1283508592
NM_014336.5(AIPL1):c.59del (p.Gly20fs)
NM_014336.5(AIPL1):c.621C>A (p.Cys207Ter)
NM_014336.5(AIPL1):c.773G>C (p.Arg258Pro) rs751881283
NM_014336.5(AIPL1):c.778dup (p.His260fs)
NM_014336.5(AIPL1):c.826G>T (p.Glu276Ter) rs2150674982
NM_014336.5(AIPL1):c.867dup (p.Val290fs)
NM_014336.5(AIPL1):c.88G>T (p.Gly30Ter)
NM_015662.3(IFT172):c.1036C>T (p.Arg346Ter) rs201862538
NM_015662.3(IFT172):c.1078del (p.Glu359_Val360insTer) rs1453282096
NM_015662.3(IFT172):c.1100_1103dup (p.Tyr368Ter)
NM_015662.3(IFT172):c.1115dup (p.His372fs) rs2148544061
NM_015662.3(IFT172):c.1209del (p.Phe403fs) rs2148542989
NM_015662.3(IFT172):c.1315dup (p.His439fs)
NM_015662.3(IFT172):c.1412-1G>C
NM_015662.3(IFT172):c.1412-2A>G
NM_015662.3(IFT172):c.148A>T (p.Arg50Ter) rs1668686361
NM_015662.3(IFT172):c.1555A>T (p.Lys519Ter)
NM_015662.3(IFT172):c.1671_1672dup (p.Val558fs) rs587777083
NM_015662.3(IFT172):c.1871_1872del (p.Thr624fs)
NM_015662.3(IFT172):c.189_192del (p.Lys65fs)
NM_015662.3(IFT172):c.1972C>T (p.Arg658Ter)
NM_015662.3(IFT172):c.2078del (p.Lys693fs) rs1444591972
NM_015662.3(IFT172):c.2146C>T (p.Gln716Ter) rs2148507566
NM_015662.3(IFT172):c.2158del (p.Arg720fs) rs587777086
NM_015662.3(IFT172):c.2209G>T (p.Glu737Ter)
NM_015662.3(IFT172):c.2224_2236dup (p.Trp746Ter)
NM_015662.3(IFT172):c.2233C>T (p.Gln745Ter)
NM_015662.3(IFT172):c.2584dup (p.Asp862fs)
NM_015662.3(IFT172):c.2646C>A (p.Cys882Ter) rs1309394469
NM_015662.3(IFT172):c.2760dup (p.His921fs)
NM_015662.3(IFT172):c.3130C>T (p.Arg1044Ter)
NM_015662.3(IFT172):c.3426del (p.Glu1143fs)
NM_015662.3(IFT172):c.3562C>T (p.Gln1188Ter)
NM_015662.3(IFT172):c.3628dup (p.Ala1210fs)
NM_015662.3(IFT172):c.3648dup (p.Gln1217fs)
NM_015662.3(IFT172):c.3850C>T (p.Arg1284Ter) rs1366937730
NM_015662.3(IFT172):c.3914_3915del (p.Ser1305fs)
NM_015662.3(IFT172):c.3949A>T (p.Lys1317Ter) rs2148485970
NM_015662.3(IFT172):c.4194dup (p.Phe1399fs) rs2148477695
NM_015662.3(IFT172):c.4493_4494del (p.Glu1498fs)
NM_015662.3(IFT172):c.455_462dup (p.Val155fs)
NM_015662.3(IFT172):c.4642C>T (p.Gln1548Ter)
NM_015662.3(IFT172):c.4680_4683del (p.Ser1561fs) rs1665095139
NM_015662.3(IFT172):c.4701C>A (p.His1567Gln) rs786205855
NM_015662.3(IFT172):c.4789dup (p.Leu1597fs) rs2148467517
NM_015662.3(IFT172):c.4853del (p.Ser1618fs) rs2148467030
NM_015662.3(IFT172):c.4925_4928del (p.Arg1642fs) rs587777078
NM_015662.3(IFT172):c.4936C>T (p.Arg1646Ter)
NM_015662.3(IFT172):c.4966C>T (p.Gln1656Ter)
NM_015662.3(IFT172):c.5044C>T (p.Arg1682Ter) rs1329856696
NM_015662.3(IFT172):c.691del (p.Thr231fs)
NM_015662.3(IFT172):c.811C>T (p.Arg271Ter) rs1250676888
NM_015662.3(IFT172):c.875del (p.Leu292fs)
NM_015662.3(IFT172):c.952C>T (p.Arg318Ter)
NM_015662.3(IFT172):c.978dup (p.Glu327Ter)
NM_018418.5(SPATA7):c.1058dup (p.Ser354fs) rs878853385
NM_018418.5(SPATA7):c.1079_1080del (p.Tyr359_Ser360insTer)
NM_018418.5(SPATA7):c.1090G>T (p.Glu364Ter)
NM_018418.5(SPATA7):c.1102_1103del (p.Leu368fs) rs777069665
NM_018418.5(SPATA7):c.115_119del (p.Ser39fs) rs1555370458
NM_018418.5(SPATA7):c.1171C>T (p.Arg391Ter) rs374268850
NM_018418.5(SPATA7):c.1195C>T (p.Gln399Ter) rs2077123571
NM_018418.5(SPATA7):c.1199_1203del (p.Asn400fs) rs1436269510
NM_018418.5(SPATA7):c.1200_1201del (p.Asn400fs) rs2077123914
NM_018418.5(SPATA7):c.1210G>T (p.Glu404Ter) rs749304751
NM_018418.5(SPATA7):c.1222del (p.Met408fs)
NM_018418.5(SPATA7):c.265_268del (p.Leu89fs) rs777346333
NM_018418.5(SPATA7):c.418dup (p.Met140fs) rs2139995462
NM_018418.5(SPATA7):c.477_478del (p.Leu161fs)
NM_018418.5(SPATA7):c.578_581dup (p.Ser195fs)
NM_018418.5(SPATA7):c.699_700del (p.Phe233_Ser234insTer) rs567890014
NM_018418.5(SPATA7):c.700dup (p.Ser234fs) rs567890014
NM_018418.5(SPATA7):c.864del (p.Thr289fs)
NM_018418.5(SPATA7):c.960dup (p.Pro321fs) rs386834241
NM_018418.5(SPATA7):c.969_975del (p.Gly324fs) rs2140004287
NM_020366.4(RPGRIP1):c.1087_1090del (p.Arg363fs)
NM_020366.4(RPGRIP1):c.1089_1090dup (p.Val364fs) rs768719934
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020366.4(RPGRIP1):c.1116del (p.Lys372fs) rs776880045
NM_020366.4(RPGRIP1):c.1145T>A (p.Leu382Ter) rs2139176356
NM_020366.4(RPGRIP1):c.1220dup (p.Gln408fs)
NM_020366.4(RPGRIP1):c.1243del (p.Asp415fs)
NM_020366.4(RPGRIP1):c.1309C>T (p.Gln437Ter)
NM_020366.4(RPGRIP1):c.1363del (p.Glu455fs) rs763671264
NM_020366.4(RPGRIP1):c.1447C>T (p.Gln483Ter) rs368781265
NM_020366.4(RPGRIP1):c.14_29dup (p.Asp11fs) rs1181453325
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs) rs1420750126
NM_020366.4(RPGRIP1):c.1646del (p.Asn549fs)
NM_020366.4(RPGRIP1):c.1687C>T (p.Arg563Ter) rs776963292
NM_020366.4(RPGRIP1):c.1713dup (p.Ile572fs)
NM_020366.4(RPGRIP1):c.172_173del (p.Met58fs)
NM_020366.4(RPGRIP1):c.1867C>T (p.Gln623Ter) rs772090790
NM_020366.4(RPGRIP1):c.1930C>T (p.Gln644Ter) rs2139227650
NM_020366.4(RPGRIP1):c.1995T>A (p.Cys665Ter) rs1225223445
NM_020366.4(RPGRIP1):c.2017C>T (p.Gln673Ter) rs1566341956
NM_020366.4(RPGRIP1):c.2024del (p.Leu675fs) rs2139228423
NM_020366.4(RPGRIP1):c.2236G>A (p.Gly746Arg)
NM_020366.4(RPGRIP1):c.2308_2311del (p.Lys770fs) rs1412625438
NM_020366.4(RPGRIP1):c.2441del (p.Arg814fs) rs1739469293
NM_020366.4(RPGRIP1):c.2465_2468dup (p.Ala824fs) rs745741473
NM_020366.4(RPGRIP1):c.24dup (p.Ser9fs)
NM_020366.4(RPGRIP1):c.2668C>T (p.Arg890Ter) rs780587095
NM_020366.4(RPGRIP1):c.2718dup (p.Asn907Ter) rs776289402
NM_020366.4(RPGRIP1):c.2759_2760insT (p.Gln920fs) rs61751270
NM_020366.4(RPGRIP1):c.2781del (p.Tyr929fs) rs1883254940
NM_020366.4(RPGRIP1):c.2910_2911del (p.Ser970_Pro971insTer)
NM_020366.4(RPGRIP1):c.2935C>T (p.Gln979Ter) rs1371805993
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159
NM_020366.4(RPGRIP1):c.2974_2984del (p.Arg992fs)
NM_020366.4(RPGRIP1):c.2974del (p.Arg992fs) rs1594224781
NM_020366.4(RPGRIP1):c.3094_3095insT (p.Pro1032fs)
NM_020366.4(RPGRIP1):c.313C>T (p.Gln105Ter) rs2139156519
NM_020366.4(RPGRIP1):c.3275_3276dup (p.Ala1093fs) rs2139288271
NM_020366.4(RPGRIP1):c.3463G>T (p.Glu1155Ter)
NM_020366.4(RPGRIP1):c.3487dup (p.Arg1163fs) rs1885194108
NM_020366.4(RPGRIP1):c.3511del (p.Ile1171fs)
NM_020366.4(RPGRIP1):c.3610C>T (p.Gln1204Ter) rs2139350315
NM_020366.4(RPGRIP1):c.3618-1_3621del rs1594280740
NM_020366.4(RPGRIP1):c.3629_3630insG (p.Val1211fs) rs1885757549
NM_020366.4(RPGRIP1):c.3663_3666del (p.Lys1221fs) rs1594280914
NM_020366.4(RPGRIP1):c.3726dup (p.Ile1243fs)
NM_020366.4(RPGRIP1):c.442A>T (p.Arg148Ter)
NM_020366.4(RPGRIP1):c.521del (p.Pro174fs) rs1881077003
NM_020366.4(RPGRIP1):c.604_611del (p.Ser202fs)
NM_020366.4(RPGRIP1):c.664_665del (p.Asn222fs)
NM_020366.4(RPGRIP1):c.673del (p.His225fs) rs752263228
NM_020366.4(RPGRIP1):c.711del (p.Lys239fs) rs2139160608
NM_020366.4(RPGRIP1):c.767C>G (p.Ser256Ter) rs2139160679
NM_020366.4(RPGRIP1):c.799C>T (p.Arg267Ter) rs554396590
NM_020366.4(RPGRIP1):c.808_826del (p.Ser269_Ile270insTer) rs2139168888
NM_020366.4(RPGRIP1):c.832C>T (p.Arg278Ter) rs587783018
NM_020366.4(RPGRIP1):c.833del (p.Arg278fs)
NM_020366.4(RPGRIP1):c.853_854insGCCGAGTGCCTGCAATTGCAGGCGCGCGCCGCCACGCCTGACTGGTTTTCGTATTTTTTTGGTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGCTCTTACATG (p.Glu285delinsGlyArgValProAlaIleAlaGlyAlaArgArgHisAlaTer)
NM_020366.4(RPGRIP1):c.931-2_935delinsT rs2139175288
NM_021615.5(CHST6):c.290_293dup (p.Val99fs)
NM_021615.5(CHST6):c.601_621del (p.Val201_Val207del)
NM_021615.5(CHST6):c.632G>A (p.Arg211Gln)
NM_021615.5(CHST6):c.6_7delinsAA (p.Trp2_Leu3delinsTer)
NM_021615.5(CHST6):c.847_848delinsTG (p.Glu283Ter) rs2151665554
NM_022787.4(NMNAT1):c.116-2A>G rs1204470176
NM_022787.4(NMNAT1):c.165C>G (p.Tyr55Ter)
NM_022787.4(NMNAT1):c.254G>A (p.Trp85Ter)
NM_022787.4(NMNAT1):c.255G>A (p.Trp85Ter) rs2101701634
NM_022787.4(NMNAT1):c.25G>A (p.Val9Met) rs387907294
NM_022787.4(NMNAT1):c.282_283del (p.Glu94fs)
NM_022787.4(NMNAT1):c.364del (p.Arg122fs) rs1413885352
NM_022787.4(NMNAT1):c.393_394del (p.Glu131fs) rs2101713372
NM_022787.4(NMNAT1):c.469del (p.Ala157fs) rs1641966566
NM_022787.4(NMNAT1):c.500A>G (p.Asn167Ser) rs1405020783
NM_022787.4(NMNAT1):c.648G>A (p.Trp216Ter)
NM_022787.4(NMNAT1):c.676del (p.Ile226fs) rs763438353
NM_022787.4(NMNAT1):c.721C>T (p.Pro241Ser)
NM_033629.6(TREX1):c.123_125dup (p.Cys42Ter) rs1354160835
NM_033629.6(TREX1):c.130del (p.Leu44fs)
NM_033629.6(TREX1):c.141_151del (p.Pro48fs)
NM_033629.6(TREX1):c.144del (p.Thr49fs) rs748914604
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604
NM_033629.6(TREX1):c.150_151del (p.Gln51fs) rs770607110
NM_033629.6(TREX1):c.153_166del (p.Gln51fs) rs2107256093
NM_033629.6(TREX1):c.18dup (p.Pro7fs)
NM_033629.6(TREX1):c.205_206del (p.Leu69fs)
NM_033629.6(TREX1):c.212_213del (p.Val71fs) rs74689946
NM_033629.6(TREX1):c.226_233dup (p.Ser78fs)
NM_033629.6(TREX1):c.236_243del (p.Pro79fs) rs1331920811
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.296_299dup (p.Phe100fs) rs763966000
NM_033629.6(TREX1):c.349C>T (p.Gln117Ter)
NM_033629.6(TREX1):c.366_367del (p.Ala123fs)
NM_033629.6(TREX1):c.371_381del (p.His124fs)
NM_033629.6(TREX1):c.399dup (p.Leu134fs) rs2107258834
NM_033629.6(TREX1):c.513del (p.His171fs)
NM_033629.6(TREX1):c.522_523delinsTT (p.Arg174_Lys175delinsSerTer)
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) rs121908117
NM_033629.6(TREX1):c.55dup (p.Met19fs)
NM_033629.6(TREX1):c.565C>T (p.Gln189Ter)
NM_033629.6(TREX1):c.58dup (p.Glu20fs) rs78300695
NM_033629.6(TREX1):c.598G>A (p.Asp200Asn) rs78846775
NM_033629.6(TREX1):c.5del (p.Gly2fs) rs2107254550
NM_033629.6(TREX1):c.621_622del (p.Ile207fs) rs781199890
NM_033629.6(TREX1):c.635del (p.Pro212fs) rs756664985
NM_033629.6(TREX1):c.69dup (p.Pro25fs)
NM_033629.6(TREX1):c.703dup (p.Val235fs) rs1553820434
NM_033629.6(TREX1):c.76_80dup (p.Gln28fs)
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303
NM_152419.3(HGSNAT):c.1034_1049del (p.Ile345fs) rs2130783645
NM_152419.3(HGSNAT):c.1048C>T (p.Gln350Ter) rs752939204
NM_152419.3(HGSNAT):c.1051C>T (p.Arg351Ter) rs756420301
NM_152419.3(HGSNAT):c.1054_1055insATCAATTTCTAATGGGATTTCCAGAGTTGAAAAAGACAAATATTCAGCTTTAGGAAGCACAGTTGAGTCCTGAGCAGTACAAATAAAAATATAGGCTGGGCACAGTGGCTCACATGTGTAATCCCAGCACTTTCGGAGGCTGAGGTGGGTGGATTGCTGGAGTCCAGCAGTTTGAAAACAGCCTGAGCAACATGGCAAGACCCCATCTCTACAAAAAATACAACAATTATCCGGGCATGGTGGCACAAGCCCGTAGTCCCAGCTACTCAGGAAGCTGAGGTGGATCGCTTGAGCCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCACACTGAATGACAGAGTGAGACTGTCTTAATAAAAAATATGAGTCAGCGTATAAGTTAAAAGGAGTTTTAAAAGATACTAATCCAAAAGAAGGCAGAAAAGGAGAAACATAATAGACTTACCAGCCCAATTTAAAAGTCAGGGATTATAAACATGAATTGAAGAAGTGAGACCCAGTTA (p.Leu352delinsTyrGlnPheLeuMetGlyPheProGluLeuLysLysThrAsnIleGlnLeuTer) rs2130783742
NM_152419.3(HGSNAT):c.10del (p.Ala4fs)
NM_152419.3(HGSNAT):c.1102A>T (p.Lys368Ter) rs954238515
NM_152419.3(HGSNAT):c.111del (p.Pro38fs) rs1802484500
NM_152419.3(HGSNAT):c.1139del (p.Cys380fs)
NM_152419.3(HGSNAT):c.1153_1154insCTGG (p.Asp385fs)
NM_152419.3(HGSNAT):c.1170del (p.Trp390fs) rs748387885
NM_152419.3(HGSNAT):c.1174C>T (p.Gln392Ter) rs1804527418
NM_152419.3(HGSNAT):c.1245C>A (p.Cys415Ter) rs375616017
NM_152419.3(HGSNAT):c.1271dup (p.Ile425fs) rs1804565177
NM_152419.3(HGSNAT):c.127A>T (p.Lys43Ter)
NM_152419.3(HGSNAT):c.1323C>A (p.Tyr441Ter) rs1804568176
NM_152419.3(HGSNAT):c.133dup (p.Arg45fs) rs1220771600
NM_152419.3(HGSNAT):c.1360C>T (p.Gln454Ter) rs1057518644
NM_152419.3(HGSNAT):c.1401del (p.Tyr468fs)
NM_152419.3(HGSNAT):c.1437dup (p.Ile480fs) rs759057396
NM_152419.3(HGSNAT):c.1464+1del rs2130810933
NM_152419.3(HGSNAT):c.1466C>A (p.Ala489Glu) rs1554537586
NM_152419.3(HGSNAT):c.1508dup (p.Leu504fs) rs2130819661
NM_152419.3(HGSNAT):c.150del (p.Met51fs) rs1802737867
NM_152419.3(HGSNAT):c.1542+4dup rs1401818080
NM_152419.3(HGSNAT):c.1610del (p.Leu537fs) rs2130821307
NM_152419.3(HGSNAT):c.164T>A (p.Leu55Ter) rs1586698317
NM_152419.3(HGSNAT):c.1674C>G (p.Tyr558Ter) rs1554537841
NM_152419.3(HGSNAT):c.1691dup (p.Leu566fs)
NM_152419.3(HGSNAT):c.1700G>A (p.Trp567Ter) rs1804781641
NM_152419.3(HGSNAT):c.244C>T (p.Gln82Ter)
NM_152419.3(HGSNAT):c.265C>T (p.Gln89Ter) rs1803166332
NM_152419.3(HGSNAT):c.376G>T (p.Glu126Ter) rs1803180587
NM_152419.3(HGSNAT):c.391G>T (p.Glu131Ter) rs1803181154
NM_152419.3(HGSNAT):c.451del (p.Cys151fs)
NM_152419.3(HGSNAT):c.493+1G>C
NM_152419.3(HGSNAT):c.494-1G>A
NM_152419.3(HGSNAT):c.494-2A>G
NM_152419.3(HGSNAT):c.505dup (p.Ala169fs)
NM_152419.3(HGSNAT):c.518G>A (p.Gly173Asp) rs370717845
NM_152419.3(HGSNAT):c.523dup (p.Ala175fs)
NM_152419.3(HGSNAT):c.525dup (p.Val176fs) rs483352895
NM_152419.3(HGSNAT):c.557T>A (p.Leu186Ter)
NM_152419.3(HGSNAT):c.610G>T (p.Glu204Ter)
NM_152419.3(HGSNAT):c.634G>T (p.Glu212Ter)
NM_152419.3(HGSNAT):c.679C>T (p.Gln227Ter) rs1803593441
NM_152419.3(HGSNAT):c.682_740del (p.Pro228fs) rs2130745878
NM_152419.3(HGSNAT):c.698dup (p.Ser234fs)
NM_152419.3(HGSNAT):c.719del (p.Leu240fs) rs2130746148
NM_152419.3(HGSNAT):c.739del (p.Arg247fs) rs1085307880
NM_152419.3(HGSNAT):c.74_75del (p.Pro25fs)
NM_152419.3(HGSNAT):c.781G>T (p.Gly261Ter) rs2130750698
NM_152419.3(HGSNAT):c.793dup (p.Trp265fs)
NM_152419.3(HGSNAT):c.852-1G>A rs1447092074
NM_152419.3(HGSNAT):c.852-2A>G
NM_152419.3(HGSNAT):c.852G>A (p.Trp284Ter)
NM_152419.3(HGSNAT):c.86C>A (p.Ser29Ter)
NM_152419.3(HGSNAT):c.87_100dup (p.Gln34fs) rs2130648345
NM_152419.3(HGSNAT):c.884_885insTATTTTTTTTTATTTTTTTNNNNNNNNNNTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATCTTCCATTTTTCT (p.Leu295_Ser296insIlePhePheTyrPhePheXaaXaaXaaXaaLeuAlaArgMetValSerIleSerTer) rs2130766198
NM_152419.3(HGSNAT):c.887C>A (p.Ser296Ter) rs372933126
NM_152419.3(HGSNAT):c.90dup (p.Arg31fs) rs2130648385
NM_152419.3(HGSNAT):c.925A>T (p.Arg309Ter) rs1803878901
NM_152419.3(HGSNAT):c.932del (p.Leu311fs)
NM_152419.3(HGSNAT):c.947G>A (p.Trp316Ter) rs1554533211
NM_152419.3(HGSNAT):c.959del (p.Leu320fs)
NM_152419.3(HGSNAT):c.969C>A (p.Cys323Ter)
NM_152419.3(HGSNAT):c.974G>A (p.Gly325Glu) rs753315223
NM_152443.3(RDH12):c.106C>T (p.Gln36Ter)
NM_152443.3(RDH12):c.164C>T (p.Thr55Met) rs766631462
NM_152443.3(RDH12):c.189del (p.Ala64fs)
NM_152443.3(RDH12):c.216_219del (p.Asp72_Val73insTer)
NM_152443.3(RDH12):c.226G>A (p.Gly76Arg) rs368489658
NM_152443.3(RDH12):c.226G>T (p.Gly76Trp) rs368489658
NM_152443.3(RDH12):c.229G>T (p.Glu77Ter)
NM_152443.3(RDH12):c.272dup (p.Val92fs)
NM_152443.3(RDH12):c.314_318del (p.Ile105fs)
NM_152443.3(RDH12):c.343+1G>A
NM_152443.3(RDH12):c.344-43_421del
NM_152443.3(RDH12):c.377C>A (p.Ala126Glu) rs202126574
NM_152443.3(RDH12):c.379G>T (p.Gly127Ter) rs104894474
NM_152443.3(RDH12):c.393T>A (p.Cys131Ter) rs755621140
NM_152443.3(RDH12):c.43del (p.Leu15fs) rs1167979935
NM_152443.3(RDH12):c.448+1G>A rs781331005
NM_152443.3(RDH12):c.448+1G>C rs781331005
NM_152443.3(RDH12):c.488del (p.Lys163fs) rs2038193754
NM_152443.3(RDH12):c.496del (p.Ala166fs) rs2140145266
NM_152443.3(RDH12):c.505C>G (p.Arg169Gly) rs761167763
NM_152443.3(RDH12):c.505C>T (p.Arg169Trp) rs761167763
NM_152443.3(RDH12):c.524C>A (p.Ser175Ter) rs116733939
NM_152443.3(RDH12):c.52del (p.Met17_Val18insTer) rs2140138107
NM_152443.3(RDH12):c.535C>G (p.His179Asp) rs2038195054
NM_152443.3(RDH12):c.546del (p.Ile183fs)
NM_152443.3(RDH12):c.565C>T (p.Gln189Ter) rs104894470
NM_152443.3(RDH12):c.580dup (p.Tyr194fs) rs2140145502
NM_152443.3(RDH12):c.601T>C (p.Cys201Arg) rs2038196341
NM_152443.3(RDH12):c.609C>A (p.Ser203Arg) rs753959716
NM_152443.3(RDH12):c.617C>T (p.Ala206Val)
NM_152443.3(RDH12):c.63_66del (p.Ile22fs) rs794729650
NM_152443.3(RDH12):c.68+1G>A rs2140138146
NM_152443.3(RDH12):c.680_683del (p.Ala227fs) rs2038232008
NM_152443.3(RDH12):c.697_698dup (p.Arg234fs)
NM_152443.3(RDH12):c.698_699delinsAA (p.Val233Glu) rs2038232911
NM_152443.3(RDH12):c.715C>T (p.Arg239Trp) rs751589863
NM_152443.3(RDH12):c.715dup (p.Arg239fs) rs760813820
NM_152443.3(RDH12):c.716G>T (p.Arg239Leu) rs1239043055
NM_152443.3(RDH12):c.723del (p.Ser242fs)
NM_152443.3(RDH12):c.759del (p.Phe254fs) rs1594867516
NM_152443.3(RDH12):c.778del (p.Glu260fs) rs527236099
NM_152443.3(RDH12):c.779dup (p.Ala262fs)
NM_152443.3(RDH12):c.784del (p.Ala262fs) rs1594867551
NM_152443.3(RDH12):c.784dup (p.Ala262fs) rs1594867551
NM_152443.3(RDH12):c.796del (p.Leu266fs)
NM_152443.3(RDH12):c.806_810del (p.Ala269fs) rs386834261
NM_152443.3(RDH12):c.807_813del (p.Leu270fs)
NM_152443.3(RDH12):c.812_813del (p.Ala271fs) rs2140151036
NM_152443.3(RDH12):c.823G>T (p.Glu275Ter) rs755909719
NM_152443.3(RDH12):c.829_830del (p.Leu277fs)
NM_152443.3(RDH12):c.843C>G (p.Tyr281Ter)
NM_152443.3(RDH12):c.848+1G>C
NM_152443.3(RDH12):c.848+2T>C rs878853338
NM_152443.3(RDH12):c.866G>A (p.Trp289Ter) rs2140162488
NM_152443.3(RDH12):c.867_884del (p.Trp289_Arg295delinsTer)
NM_152443.3(RDH12):c.869dup (p.Ser291fs) rs2038316193
NM_152443.3(RDH12):c.883C>T (p.Arg295Ter) rs200387832
NM_152443.3(RDH12):c.910T>C (p.Trp304Arg) rs878853339
NM_152443.3(RDH12):c.98del (p.Thr33fs)
NM_201253.3(CRB1):c.1032_1033dup (p.Ser345fs)
NM_201253.3(CRB1):c.1057G>T (p.Glu353Ter) rs2125354456
NM_201253.3(CRB1):c.1078_1081del (p.Glu360fs) rs2125354507
NM_201253.3(CRB1):c.107C>A (p.Ser36Ter) rs2125303600
NM_201253.3(CRB1):c.1125C>G (p.Tyr375Ter) rs1660515780
NM_201253.3(CRB1):c.112del (p.Ser38fs) rs62645750
NM_201253.3(CRB1):c.1136C>G (p.Ser379Ter) rs1660516364
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr) rs62645754
NM_201253.3(CRB1):c.117C>A (p.Cys39Ter)
NM_201253.3(CRB1):c.1180T>C (p.Cys394Arg) rs786205450
NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter) rs115352681
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter) rs369775002
NM_201253.3(CRB1):c.1208C>G (p.Ser403Ter) rs62645746
NM_201253.3(CRB1):c.1244T>A (p.Leu415Ter)
NM_201253.3(CRB1):c.1275del (p.Phe425fs)
NM_201253.3(CRB1):c.1334_1740del (p.Cys445fs) rs1664289410
NM_201253.3(CRB1):c.1339dup (p.His447fs) rs2125469313
NM_201253.3(CRB1):c.134_135del (p.Thr44_Cys45insTer) rs2125303672
NM_201253.3(CRB1):c.1381C>T (p.Gln461Ter) rs1664292210
NM_201253.3(CRB1):c.138del (p.Asp47fs)
NM_201253.3(CRB1):c.1405T>G (p.Cys469Gly)
NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg) rs866822473
NM_201253.3(CRB1):c.1431del (p.Ser478fs) rs1553260321
NM_201253.3(CRB1):c.1436T>C (p.Leu479Pro) rs963201816
NM_201253.3(CRB1):c.1522T>C (p.Cys508Arg) rs1664303657
NM_201253.3(CRB1):c.1571T>C (p.Leu524Pro)
NM_201253.3(CRB1):c.1612_1613insCTTA (p.Leu538fs) rs878853364
NM_201253.3(CRB1):c.1623C>A (p.Tyr541Ter)
NM_201253.3(CRB1):c.1651C>T (p.Gln551Ter) rs768107603
NM_201253.3(CRB1):c.1655del (p.Gln551_Ser552insTer)
NM_201253.3(CRB1):c.1660del (p.Val554fs) rs1664313783
NM_201253.3(CRB1):c.1697del (p.Glu566fs) rs1664317534
NM_201253.3(CRB1):c.1700G>A (p.Trp567Ter) rs2125470583
NM_201253.3(CRB1):c.1733T>A (p.Val578Glu) rs1266363944
NM_201253.3(CRB1):c.1743_1755dup (p.Ser586fs) rs751935649
NM_201253.3(CRB1):c.1772_1775del (p.Cys591fs) rs1664325377
NM_201253.3(CRB1):c.1782del (p.Ala595fs)
NM_201253.3(CRB1):c.1813del (p.Ile605fs)
NM_201253.3(CRB1):c.1831del (p.Ser611fs) rs2125471098
NM_201253.3(CRB1):c.1844G>T (p.Gly615Val) rs768905244
NM_201253.3(CRB1):c.1856del (p.Gly619fs) rs2125471177
NM_201253.3(CRB1):c.1896_1908del (p.Met633fs) rs2125471347
NM_201253.3(CRB1):c.18del (p.Asn7fs) rs2125193922
NM_201253.3(CRB1):c.1949G>A (p.Trp650Ter) rs1664341626
NM_201253.3(CRB1):c.194_195del (p.Lys65fs)
NM_201253.3(CRB1):c.1974_1990del (p.Ser659fs) rs2125471663
NM_201253.3(CRB1):c.1997T>A (p.Val666Asp) rs189395222
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr) rs62636266
NM_201253.3(CRB1):c.2082C>A (p.Tyr694Ter) rs2125472041
NM_201253.3(CRB1):c.2086T>C (p.Cys696Arg)
NM_201253.3(CRB1):c.20_23del (p.Asn7fs) rs2125193925
NM_201253.3(CRB1):c.2128G>C (p.Glu710Gln) rs62645755
NM_201253.3(CRB1):c.2129-1G>A
NM_201253.3(CRB1):c.2129-1G>C rs1664642051
NM_201253.3(CRB1):c.2129-1G>T
NM_201253.3(CRB1):c.2129-2A>C
NM_201253.3(CRB1):c.2129-2A>G
NM_201253.3(CRB1):c.2132_2133del (p.Tyr711fs)
NM_201253.3(CRB1):c.2150del (p.Gly717fs) rs2125483574
NM_201253.3(CRB1):c.2171_2172del (p.Tyr724fs)
NM_201253.3(CRB1):c.2172T>A (p.Tyr724Ter)
NM_201253.3(CRB1):c.2195_2204del (p.Ser732fs)
NM_201253.3(CRB1):c.2222T>C (p.Met741Thr) rs62636267
NM_201253.3(CRB1):c.2229_2230insTCCATGTTGAAGC (p.Arg744fs) rs1664650245
NM_201253.3(CRB1):c.222C>A (p.Cys74Ter)
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter) rs150412614
NM_201253.3(CRB1):c.2234C>A (p.Thr745Lys) rs28939720
NM_201253.3(CRB1):c.2249G>T (p.Gly750Val) rs2125483925
NM_201253.3(CRB1):c.2257_2264dup (p.Leu755delinsPheTer)
NM_201253.3(CRB1):c.2258T>C (p.Leu753Pro) rs896160584
NM_201253.3(CRB1):c.2263_2272del (p.Leu755fs)
NM_201253.3(CRB1):c.2272A>T (p.Ser758Cys) rs201700675
NM_201253.3(CRB1):c.2293_2294del (p.Val765fs)
NM_201253.3(CRB1):c.2297G>A (p.Trp766Ter)
NM_201253.3(CRB1):c.2355del (p.Lys785fs)
NM_201253.3(CRB1):c.2371G>C (p.Gly791Arg)
NM_201253.3(CRB1):c.2393T>A (p.Leu798Ter) rs2125484499
NM_201253.3(CRB1):c.2425C>T (p.Gln809Ter) rs1571540037
NM_201253.3(CRB1):c.2466G>A (p.Trp822Ter) rs1664669402
NM_201253.3(CRB1):c.2497G>C (p.Gly833Arg) rs1664671663
NM_201253.3(CRB1):c.2498G>A (p.Gly833Asp) rs1571540258
NM_201253.3(CRB1):c.2501G>A (p.Gly834Asp) rs1085307972
NM_201253.3(CRB1):c.2505_2508del (p.Pro836fs) rs778419716
NM_201253.3(CRB1):c.2527_2598del (p.Leu843_Pro866del)
NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs) rs745348555
NM_201253.3(CRB1):c.2541_2542del (p.Phe848fs) rs2125485040
NM_201253.3(CRB1):c.2543del (p.Phe848fs)
NM_201253.3(CRB1):c.2570dup (p.Asn858fs) rs2125485135
NM_201253.3(CRB1):c.2578del (p.Gln860fs) rs1558132353
NM_201253.3(CRB1):c.257_258dup (p.Asn87Ter) rs62636260
NM_201253.3(CRB1):c.2582del (p.Asn861fs)
NM_201253.3(CRB1):c.2587G>T (p.Glu863Ter)
NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser) rs910489135
NM_201253.3(CRB1):c.2647del (p.Gln883fs) rs2125485467
NM_201253.3(CRB1):c.2696G>C (p.Gly899Ala)
NM_201253.3(CRB1):c.2718G>A (p.Trp906Ter) rs2125488868
NM_201253.3(CRB1):c.2767G>T (p.Glu923Ter) rs2125489019
NM_201253.3(CRB1):c.276_294delinsTGAACACTGTAC (p.Arg92fs)
NM_201253.3(CRB1):c.2806G>T (p.Gly936Ter)
NM_201253.3(CRB1):c.2818C>T (p.Gln940Ter) rs2125489182
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg) rs62645747
NM_201253.3(CRB1):c.2869C>T (p.Gln957Ter) rs878853371
NM_201253.3(CRB1):c.2881del (p.Ile961fs)
NM_201253.3(CRB1):c.2885T>A (p.Leu962Ter)
NM_201253.3(CRB1):c.2904dup (p.Ile969fs)
NM_201253.3(CRB1):c.2942_2943del (p.Arg981fs) rs1290879180
NM_201253.3(CRB1):c.2955_2956insGA (p.Asn986fs)
NM_201253.3(CRB1):c.2966T>C (p.Ile989Thr)
NM_201253.3(CRB1):c.2969del (p.Leu990fs)
NM_201253.3(CRB1):c.2982_3064dup (p.Ser1022delinsLysSerLeuAsnPheLeuIleLeuAlaPheLysIleProAspTyrSerPheAsnCysLysValAlaThrAlaPheIleCysTer)
NM_201253.3(CRB1):c.3012_3014delinsTTT (p.Gln1004_Asp1005delinsHisPhe)
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_3059dup (p.Met1020fs)
NM_201253.3(CRB1):c.3091G>A (p.Asp1031Asn) rs2125499421
NM_201253.3(CRB1):c.3102G>A (p.Trp1034Ter) rs2125499463
NM_201253.3(CRB1):c.3110_3143dup (p.Ser1049fs) rs1665063400
NM_201253.3(CRB1):c.3112_3113dup (p.Leu1039fs)
NM_201253.3(CRB1):c.3121A>G (p.Met1041Val) rs781705903
NM_201253.3(CRB1):c.3134del (p.Leu1045fs) rs2125499552
NM_201253.3(CRB1):c.3142_3149del (p.Thr1048fs)
NM_201253.3(CRB1):c.3143_3154delinsA (p.Thr1048fs) rs1665066272
NM_201253.3(CRB1):c.3152G>A (p.Trp1051Ter)
NM_201253.3(CRB1):c.3166G>T (p.Asp1056Tyr) rs727503889
NM_201253.3(CRB1):c.3172G>T (p.Glu1058Ter) rs564754426
NM_201253.3(CRB1):c.3288T>A (p.Cys1096Ter)
NM_201253.3(CRB1):c.3292del (p.Ser1098fs)
NM_201253.3(CRB1):c.3299T>C (p.Ile1100Thr) rs62635659
NM_201253.3(CRB1):c.3320T>G (p.Leu1107Arg) rs62636276
NM_201253.3(CRB1):c.3325_3326del (p.Tyr1109fs) rs2125500141
NM_201253.3(CRB1):c.3325dup (p.Tyr1109fs) rs2125500127
NM_201253.3(CRB1):c.3329T>G (p.Phe1110Cys) rs1665086143
NM_201253.3(CRB1):c.3331G>T (p.Glu1111Ter) rs62636277
NM_201253.3(CRB1):c.3361C>T (p.Gln1121Ter) rs2125500230
NM_201253.3(CRB1):c.3395_3879-490del
NM_201253.3(CRB1):c.3427del (p.Cys1143fs) rs2125500431
NM_201253.3(CRB1):c.3441_3442del (p.Cys1148fs)
NM_201253.3(CRB1):c.3442T>C (p.Cys1148Arg) rs2125500491
NM_201253.3(CRB1):c.344_356dup (p.Cys119fs)
NM_201253.3(CRB1):c.3451G>T (p.Gly1151Ter) rs1558138741
NM_201253.3(CRB1):c.3460T>A (p.Cys1154Ser)
NM_201253.3(CRB1):c.3462_3463del (p.Cys1154_Glu1155delinsTer) rs1571557864
NM_201253.3(CRB1):c.3495T>A (p.Cys1165Ter)
NM_201253.3(CRB1):c.3507_3508del (p.Trp1169fs)
NM_201253.3(CRB1):c.3538G>T (p.Glu1180Ter)
NM_201253.3(CRB1):c.3540_3541dup (p.Cys1181fs) rs2125500799
NM_201253.3(CRB1):c.3542dup (p.Cys1181fs) rs1553263218
NM_201253.3(CRB1):c.358C>T (p.Gln120Ter) rs1658671768
NM_201253.3(CRB1):c.3630del (p.Cys1211fs)
NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr) rs1450635782
NM_201253.3(CRB1):c.3653G>T (p.Cys1218Phe) rs1450635782
NM_201253.3(CRB1):c.3667dup (p.Cys1223fs)
NM_201253.3(CRB1):c.3687C>A (p.Cys1229Ter)
NM_201253.3(CRB1):c.3708_3709dup (p.Ser1237fs)
NM_201253.3(CRB1):c.3713_3716dup (p.Cys1240fs) rs1366609497
NM_201253.3(CRB1):c.3762del (p.Leu1254fs)
NM_201253.3(CRB1):c.3787A>T (p.Lys1263Ter) rs2125506218
NM_201253.3(CRB1):c.379C>T (p.Gln127Ter) rs1658673791
NM_201253.3(CRB1):c.3827_3828del (p.Glu1276fs)
NM_201253.3(CRB1):c.3837_3838del (p.Glu1280fs)
NM_201253.3(CRB1):c.3860del (p.Pro1287fs) rs2125506442
NM_201253.3(CRB1):c.3862G>A (p.Gly1288Ser) rs2125506459
NM_201253.3(CRB1):c.3878G>A (p.Trp1293Ter) rs1665282478
NM_201253.3(CRB1):c.3879G>A (p.Trp1293Ter) rs281865174
NM_201253.3(CRB1):c.3887del (p.Lys1296fs) rs765536137
NM_201253.3(CRB1):c.3896del (p.Asp1299fs) rs2125513602
NM_201253.3(CRB1):c.3898G>T (p.Glu1300Ter)
NM_201253.3(CRB1):c.3914C>T (p.Pro1305Leu)
NM_201253.3(CRB1):c.3950del (p.Asn1317fs)
NM_201253.3(CRB1):c.3952A>T (p.Lys1318Ter) rs1665482895
NM_201253.3(CRB1):c.3988G>T (p.Glu1330Ter) rs1372774777
NM_201253.3(CRB1):c.3988del (p.Glu1330fs) rs1057520152
NM_201253.3(CRB1):c.3996C>A (p.Cys1332Ter) rs1665487563
NM_201253.3(CRB1):c.4005+1G>A rs890453675
NM_201253.3(CRB1):c.4005+1G>C rs890453675
NM_201253.3(CRB1):c.4005+2T>C rs2125514028
NM_201253.3(CRB1):c.4005+2T>G
NM_201253.3(CRB1):c.4006-1G>A
NM_201253.3(CRB1):c.4006-1G>T rs752804194
NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs) rs281865175
NM_201253.3(CRB1):c.4137C>G (p.Tyr1379Ter) rs1206810310
NM_201253.3(CRB1):c.4142C>T (p.Pro1381Leu) rs1667264651
NM_201253.3(CRB1):c.4142_4147del (p.Pro1381_Ser1382del) rs2125574108
NM_201253.3(CRB1):c.4176_4177del (p.Glu1392fs) rs2125574236
NM_201253.3(CRB1):c.4207G>C (p.Glu1403Gln) rs1667269806
NM_201253.3(CRB1):c.425del (p.Gly142fs)
NM_201253.3(CRB1):c.441_444del (p.Asp148fs) rs1571848688
NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr) rs1571848744
NM_201253.3(CRB1):c.481del (p.Ala161fs) rs62635048
NM_201253.3(CRB1):c.490C>T (p.Gln164Ter) rs1658684590
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_201253.3(CRB1):c.506del (p.Gly169fs) rs1167867158
NM_201253.3(CRB1):c.522T>A (p.Cys174Ter) rs1658688864
NM_201253.3(CRB1):c.523_532dup (p.Tyr178fs) rs1658689096
NM_201253.3(CRB1):c.535C>T (p.Gln179Ter)
NM_201253.3(CRB1):c.549C>A (p.Cys183Ter)
NM_201253.3(CRB1):c.565G>T (p.Glu189Ter) rs1658692554
NM_201253.3(CRB1):c.570T>A (p.Cys190Ter)
NM_201253.3(CRB1):c.57dup (p.Ile20fs) rs1343680080
NM_201253.3(CRB1):c.5del (p.Ala2fs)
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201253.3(CRB1):c.624T>G (p.Tyr208Ter)
NM_201253.3(CRB1):c.630dup (p.Ile211fs)
NM_201253.3(CRB1):c.653-1G>A rs760287363
NM_201253.3(CRB1):c.663_664del (p.Cys221_Glu222delinsTer) rs778731851
NM_201253.3(CRB1):c.668dup (p.Leu223fs) rs2125328217
NM_201253.3(CRB1):c.691C>T (p.Gln231Ter) rs1659642763
NM_201253.3(CRB1):c.70+1G>C
NM_201253.3(CRB1):c.716G>T (p.Cys239Phe) rs771079655
NM_201253.3(CRB1):c.718C>T (p.Gln240Ter) rs2125328350
NM_201253.3(CRB1):c.71del (p.Asn24fs) rs1654722914
NM_201253.3(CRB1):c.733dup (p.Ala245fs) rs1659645978
NM_201253.3(CRB1):c.743del (p.Cys248fs)
NM_201253.3(CRB1):c.770dup (p.Asp257fs) rs2125328456
NM_201253.3(CRB1):c.798_799del (p.Ala267fs) rs2125328494
NM_201253.3(CRB1):c.799_800delinsA (p.Ala267fs) rs886043587
NM_201253.3(CRB1):c.805C>T (p.Gln269Ter) rs753224594
NM_201253.3(CRB1):c.848+1G>A rs2125328634
NM_201253.3(CRB1):c.962_966del (p.Asp321fs) rs2125333406
NM_201253.3(CRB1):c.975T>A (p.Cys325Ter)
NM_201253.3(CRB1):c.984G>A (p.Trp328Ter) rs1571878277
NM_201253.3(CRB1):c.986del (p.Pro329fs)
NM_201253.3(CRB1):c.995_996del (p.Thr332fs) rs1660503192
NM_201253.3(CRB1):c.998G>A (p.Gly333Asp) rs587783015
NM_201253.3(CRB1):c.998G>C (p.Gly333Ala) rs587783015
NM_205861.3(DHDDS):c.100del (p.Asp34fs)
NM_205861.3(DHDDS):c.109C>T (p.Arg37Cys) rs1553121072
NM_205861.3(DHDDS):c.110G>A (p.Arg37His) rs1553121073
NM_205861.3(DHDDS):c.191G>A (p.Trp64Ter)
NM_205861.3(DHDDS):c.264_267del (p.Ser88fs)
NM_205861.3(DHDDS):c.374_377dup (p.Pro128fs) rs2124425894
NM_205861.3(DHDDS):c.510dup (p.Trp171fs) rs2124433466
NM_205861.3(DHDDS):c.513G>A (p.Trp171Ter)
NM_205861.3(DHDDS):c.517dup (p.Val173fs) rs1272594778
NM_205861.3(DHDDS):c.614G>A (p.Arg205Gln) rs1557447255
NM_205861.3(DHDDS):c.632G>A (p.Arg211Gln) rs1553122926
NM_205861.3(DHDDS):c.698C>G (p.Pro233Arg)
NM_205861.3(DHDDS):c.714G>A (p.Trp238Ter) rs2124501559
Single allele

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