Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.13125996A>C | CA376029665 | OPTN | c.1199A>C (p.His400Pro) c.1181A>C (p.His394Pro) c.1028A>C (p.His343Pro) | |
10 | g.13125996A>G | CA376029666 | OPTN | c.1199A>G (p.His400Arg) c.1181A>G (p.His394Arg) c.1028A>G (p.His343Arg) | gnomAD v4 |
10 | g.13125996A>T | CA376029667 | OPTN | c.1199A>T (p.His400Leu) c.1181A>T (p.His394Leu) c.1028A>T (p.His343Leu) | |
10 | g.13125997T>A | CA376029668 | OPTN | c.1200T>A (p.His400Gln) c.1182T>A (p.His394Gln) c.1029T>A (p.His343Gln) | |
10 | g.13125997T>C | CA468240667 | OPTN | c.1200T>C (p.His400=) c.1182T>C (p.His394=) c.1029T>C (p.His343=) | |
10 | g.13125997T>G | CA376029669 | OPTN | c.1200T>G (p.His400Gln) c.1182T>G (p.His394Gln) c.1029T>G (p.His343Gln) | |
10 | g.13125998A= | CA1891470871 | OPTN | c.1201A= (p.Asn401=) c.1183A= (p.Asn395=) c.1030A= (p.Asn344=) | |
10 | g.13125998A>C | CA376029670 | OPTN | c.1201A>C (p.Asn401His) c.1183A>C (p.Asn395His) c.1030A>C (p.Asn344His) | |
10 | g.13125998A>G | CA376029671 | OPTN | c.1201A>G (p.Asn401Asp) c.1183A>G (p.Asn395Asp) c.1030A>G (p.Asn344Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.13125998A>T | CA376029672 | OPTN | c.1201A>T (p.Asn401Tyr) c.1183A>T (p.Asn395Tyr) c.1030A>T (p.Asn344Tyr) | |
10 | g.13125998_13126005delinsAATAATGC | CA1891470873 | OPTN | c.1201_1208delinsAATAATGC (p.Asn401=) c.1183_1190delinsAATAATGC (p.Asn395=) c.1030_1037delinsAATAATGC (p.Asn344=) | |
10 | g.13125999A>C | CA376029674 | OPTN | c.1202A>C (p.Asn401Thr) c.1184A>C (p.Asn395Thr) c.1031A>C (p.Asn344Thr) | |
10 | g.13125999A>G | CA376029675 | OPTN | c.1202A>G (p.Asn401Ser) c.1184A>G (p.Asn395Ser) c.1031A>G (p.Asn344Ser) | gnomAD v4 |
10 | g.13125999A>T | CA376029673 | OPTN | c.1202A>T (p.Asn401Ile) c.1184A>T (p.Asn395Ile) c.1031A>T (p.Asn344Ile) | |
10 | g.13126001_13126007del | CA5410899 | OPTN | c.1204_1210del (p.Asn402Ter) c.1186_1192del (p.Asn396Ter) c.1033_1039del (p.Asn345Ter) | ClinVar dbSNP ExAC gnomAD v2 |
10 | g.13126000T>A | CA376029676 | OPTN | c.1203T>A (p.Asn401Lys) c.1185T>A (p.Asn395Lys) c.1032T>A (p.Asn344Lys) | |
10 | g.13126000T>C | CA468240668 | OPTN | c.1203T>C (p.Asn401=) c.1185T>C (p.Asn395=) c.1032T>C (p.Asn344=) | |
10 | g.13126000T>G | CA376029677 | OPTN | c.1203T>G (p.Asn401Lys) c.1185T>G (p.Asn395Lys) c.1032T>G (p.Asn344Lys) | dbSNP |
10 | g.13126000T= | CA1891470878 | OPTN | c.1203T= (p.Asn401=) c.1185T= (p.Asn395=) c.1032T= (p.Asn344=) | |
10 | g.13126000_13126001insTTTATTATG | CA2838681686 | OPTN | c.1203_1204insTTTATTATG (p.Asn401_Asn402insPheIleMet) c.1185_1186insTTTATTATG (p.Asn395_Asn396insPheIleMet) c.1032_1033insTTTATTATG (p.Asn344_Asn345insPheIleMet) | |
10 | g.13126001A>C | CA376029678 | OPTN | c.1204A>C (p.Asn402His) c.1186A>C (p.Asn396His) c.1033A>C (p.Asn345His) | |
10 | g.13126001A>G | CA376029679 | OPTN | c.1204A>G (p.Asn402Asp) c.1186A>G (p.Asn396Asp) c.1033A>G (p.Asn345Asp) | |
10 | g.13126001A>T | CA376029680 | OPTN | c.1204A>T (p.Asn402Tyr) c.1186A>T (p.Asn396Tyr) c.1033A>T (p.Asn345Tyr) | |
10 | g.13126002A>C | CA376029683 | OPTN | c.1205A>C (p.Asn402Thr) c.1187A>C (p.Asn396Thr) c.1034A>C (p.Asn345Thr) | COSMIC |
10 | g.13126002A>G | CA376029681 | OPTN | c.1205A>G (p.Asn402Ser) c.1187A>G (p.Asn396Ser) c.1034A>G (p.Asn345Ser) | |
10 | g.13126002A>T | CA376029682 | OPTN | c.1205A>T (p.Asn402Ile) c.1187A>T (p.Asn396Ile) c.1034A>T (p.Asn345Ile) | |
10 | g.13126003T>A | CA376029684 | OPTN | c.1206T>A (p.Asn402Lys) c.1188T>A (p.Asn396Lys) c.1035T>A (p.Asn345Lys) | gnomAD v4 |
10 | g.13126003T>C | CA468240669 | OPTN | c.1206T>C (p.Asn402=) c.1188T>C (p.Asn396=) c.1035T>C (p.Asn345=) | |
10 | g.13126003T>G | CA376029685 | OPTN | c.1206T>G (p.Asn402Lys) c.1188T>G (p.Asn396Lys) c.1035T>G (p.Asn345Lys) | |
10 | g.13126004G>A | CA376029686 | OPTN | c.1207G>A (p.Ala403Thr) c.1189G>A (p.Ala397Thr) c.1036G>A (p.Ala346Thr) | |
10 | g.13126004G>C | CA376029687 | OPTN | c.1207G>C (p.Ala403Pro) c.1189G>C (p.Ala397Pro) c.1036G>C (p.Ala346Pro) | |
10 | g.13126004G>T | CA376029688 | OPTN | c.1207G>T (p.Ala403Ser) c.1189G>T (p.Ala397Ser) c.1036G>T (p.Ala346Ser) | COSMIC |
10 | g.13126005C>A | CA376029689 | OPTN | c.1208C>A (p.Ala403Glu) c.1190C>A (p.Ala397Glu) c.1037C>A (p.Ala346Glu) | |
10 | g.13126005C>G | CA376029691 | OPTN | c.1208C>G (p.Ala403Gly) c.1190C>G (p.Ala397Gly) c.1037C>G (p.Ala346Gly) | |
10 | g.13126005C>T | CA376029690 | OPTN | c.1208C>T (p.Ala403Val) c.1190C>T (p.Ala397Val) c.1037C>T (p.Ala346Val) | gnomAD v4 |
10 | g.13126006A= | CA1891470882 | OPTN | c.1209A= (p.Ala403=) c.1191A= (p.Ala397=) c.1038A= (p.Ala346=) | |
10 | g.13126006A>C | CA468240670 | OPTN | c.1209A>C (p.Ala403=) c.1191A>C (p.Ala397=) c.1038A>C (p.Ala346=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.13126006A>G | CA468240671 | OPTN | c.1209A>G (p.Ala403=) c.1191A>G (p.Ala397=) c.1038A>G (p.Ala346=) | gnomAD v4 |
10 | g.13126006A>T | CA468240672 | OPTN | c.1209A>T (p.Ala403=) c.1191A>T (p.Ala397=) c.1038A>T (p.Ala346=) | |
10 | g.13126007T>A | CA376029692 | OPTN | c.1210T>A (p.Leu404Met) c.1192T>A (p.Leu398Met) c.1039T>A (p.Leu347Met) | |
10 | g.13126007T>C | CA5410900 | OPTN | c.1210T>C (p.Leu404=) c.1192T>C (p.Leu398=) c.1039T>C (p.Leu347=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13126007T>G | CA376029693 | OPTN | c.1210T>G (p.Leu404Val) c.1192T>G (p.Leu398Val) c.1039T>G (p.Leu347Val) | |
10 | g.13126007T= | CA1891470886 | OPTN | c.1210T= (p.Leu404=) c.1192T= (p.Leu398=) c.1039T= (p.Leu347=) | |
10 | g.13126008T>A | CA376029694 | OPTN | c.1211T>A (p.Leu404Ter) c.1193T>A (p.Leu398Ter) c.1040T>A (p.Leu347Ter) | dbSNP |
10 | g.13126008T>C | CA376029695 | OPTN | c.1211T>C (p.Leu404Ser) c.1193T>C (p.Leu398Ser) c.1040T>C (p.Leu347Ser) | |
10 | g.13126008T>G | CA376029696 | OPTN | c.1211T>G (p.Leu404Trp) c.1193T>G (p.Leu398Trp) c.1040T>G (p.Leu347Trp) | |
10 | g.13126008T= | CA1891470893 | OPTN | c.1211T= (p.Leu404=) c.1193T= (p.Leu398=) c.1040T= (p.Leu347=) | |
10 | g.13126009G>A | CA468240673 | OPTN | c.1212G>A (p.Leu404=) c.1194G>A (p.Leu398=) c.1041G>A (p.Leu347=) | ClinVar |
10 | g.13126009G>C | CA376029697 | OPTN | c.1212G>C (p.Leu404Phe) c.1194G>C (p.Leu398Phe) c.1041G>C (p.Leu347Phe) | |
10 | g.13126009G= | CA1891470895 | OPTN | c.1212G= (p.Leu404=) c.1194G= (p.Leu398=) c.1041G= (p.Leu347=) | |
10 | g.13126009G>T | CA376029698 | OPTN | c.1212G>T (p.Leu404Phe) c.1194G>T (p.Leu398Phe) c.1041G>T (p.Leu347Phe) | dbSNP |
10 | g.13126010A= | CA1891470899 | OPTN | c.1213A= (p.Lys405=) c.1195A= (p.Lys399=) c.1042A= (p.Lys348=) | |
10 | g.13126010A>C | CA376029699 | OPTN | c.1213A>C (p.Lys405Gln) c.1195A>C (p.Lys399Gln) c.1042A>C (p.Lys348Gln) | |
10 | g.13126010A>G | CA376029700 | OPTN | c.1213A>G (p.Lys405Glu) c.1195A>G (p.Lys399Glu) c.1042A>G (p.Lys348Glu) | dbSNP |
10 | g.13126010A>T | CA376029701 | OPTN | c.1213A>T (p.Lys405Ter) c.1195A>T (p.Lys399Ter) c.1042A>T (p.Lys348Ter) | |
10 | g.13126011A>C | CA376029702 | OPTN | c.1214A>C (p.Lys405Thr) c.1196A>C (p.Lys399Thr) c.1043A>C (p.Lys348Thr) | |
10 | g.13126011A>G | CA376029703 | OPTN | c.1214A>G (p.Lys405Arg) c.1196A>G (p.Lys399Arg) c.1043A>G (p.Lys348Arg) | gnomAD v4 |
10 | g.13126011A>T | CA376029704 | OPTN | c.1214A>T (p.Lys405Ile) c.1196A>T (p.Lys399Ile) c.1043A>T (p.Lys348Ile) | |
10 | g.13126012A>C | CA376029705 | OPTN | c.1215A>C (p.Lys405Asn) c.1197A>C (p.Lys399Asn) c.1044A>C (p.Lys348Asn) | |
10 | g.13126012A>G | CA468240674 | OPTN | c.1215A>G (p.Lys405=) c.1197A>G (p.Lys399=) c.1044A>G (p.Lys348=) | |
10 | g.13126012A>T | CA376029706 | OPTN | c.1215A>T (p.Lys405Asn) c.1197A>T (p.Lys399Asn) c.1044A>T (p.Lys348Asn) | |
10 | g.13126013A>C | CA376029707 | OPTN | c.1216A>C (p.Thr406Pro) c.1198A>C (p.Thr400Pro) c.1045A>C (p.Thr349Pro) | |
10 | g.13126013A>G | CA376029709 | OPTN | c.1216A>G (p.Thr406Ala) c.1198A>G (p.Thr400Ala) c.1045A>G (p.Thr349Ala) | |
10 | g.13126013A>T | CA376029708 | OPTN | c.1216A>T (p.Thr406Ser) c.1198A>T (p.Thr400Ser) c.1045A>T (p.Thr349Ser) | |
10 | g.13126013_13126014delinsAC | CA1891470903 | OPTN | c.1216_1217delinsAC (p.Thr406=) c.1198_1199delinsAC (p.Thr400=) c.1045_1046delinsAC (p.Thr349=) | |
10 | g.13126014del | CA1139661387 | OPTN | c.1217del (p.Thr406LysfsTer5) c.1199del (p.Thr400LysfsTer5) c.1046del (p.Thr349LysfsTer5) | ClinVar dbSNP |
10 | g.13126014C>A | CA376029710 | OPTN | c.1217C>A (p.Thr406Lys) c.1199C>A (p.Thr400Lys) c.1046C>A (p.Thr349Lys) | |
10 | g.13126014C= | CA1891470912 | OPTN | c.1217C= (p.Thr406=) c.1199C= (p.Thr400=) c.1046C= (p.Thr349=) | |
10 | g.13126014C>G | CA376029711 | OPTN | c.1217C>G (p.Thr406Arg) c.1199C>G (p.Thr400Arg) c.1046C>G (p.Thr349Arg) | gnomAD v4 |
10 | g.13126014C>T | CA5410901 | OPTN | c.1217C>T (p.Thr406Ile) c.1199C>T (p.Thr400Ile) c.1046C>T (p.Thr349Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.13126015A= | CA1891470919 | OPTN | c.1218A= (p.Thr406=) c.1200A= (p.Thr400=) c.1047A= (p.Thr349=) | |
10 | g.13126015A>C | CA468240675 | OPTN | c.1218A>C (p.Thr406=) c.1200A>C (p.Thr400=) c.1047A>C (p.Thr349=) | |
10 | g.13126015A>G | CA468240676 | OPTN | c.1218A>G (p.Thr406=) c.1200A>G (p.Thr400=) c.1047A>G (p.Thr349=) | |
10 | g.13126015A>T | CA5410902 | OPTN | c.1218A>T (p.Thr406=) c.1200A>T (p.Thr400=) c.1047A>T (p.Thr349=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.13126016A>C | CA376029712 | OPTN | c.1219A>C (p.Ile407Leu) c.1201A>C (p.Ile401Leu) c.1048A>C (p.Ile350Leu) | gnomAD v4 |
10 | g.13126016A>G | CA376029713 | OPTN | c.1219A>G (p.Ile407Val) c.1201A>G (p.Ile401Val) c.1048A>G (p.Ile350Val) | |
10 | g.13126016A>T | CA376029714 | OPTN | c.1219A>T (p.Ile407Phe) c.1201A>T (p.Ile401Phe) c.1048A>T (p.Ile350Phe) | |
10 | g.13126017T>A | CA376029715 | OPTN | c.1220T>A (p.Ile407Asn) c.1202T>A (p.Ile401Asn) c.1049T>A (p.Ile350Asn) | |
10 | g.13126017T>C | CA5410903 | OPTN | c.1220T>C (p.Ile407Thr) c.1202T>C (p.Ile401Thr) c.1049T>C (p.Ile350Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13126017T>G | CA376029716 | OPTN | c.1220T>G (p.Ile407Ser) c.1202T>G (p.Ile401Ser) c.1049T>G (p.Ile350Ser) | |
10 | g.13126017T= | CA1891470924 | OPTN | c.1220T= (p.Ile407=) c.1202T= (p.Ile401=) c.1049T= (p.Ile350=) | |
10 | g.13126018T>A | CA5410904 | OPTN | c.1221T>A (p.Ile407=) c.1203T>A (p.Ile401=) c.1050T>A (p.Ile350=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.13126018T>C | CA468240678 | OPTN | c.1221T>C (p.Ile407=) c.1203T>C (p.Ile401=) c.1050T>C (p.Ile350=) | dbSNP |
10 | g.13126018T>G | CA376029717 | OPTN | c.1221T>G (p.Ile407Met) c.1203T>G (p.Ile401Met) c.1050T>G (p.Ile350Met) | dbSNP |
10 | g.13126018T= | CA1891470925 | OPTN | c.1221T= (p.Ile407=) c.1203T= (p.Ile401=) c.1050T= (p.Ile350=) | |
10 | g.13126019G>A | CA376029718 | OPTN | c.1222G>A (p.Glu408Lys) c.1204G>A (p.Glu402Lys) c.1051G>A (p.Glu351Lys) | |
10 | g.13126019G>C | CA376029719 | OPTN | c.1222G>C (p.Glu408Gln) c.1204G>C (p.Glu402Gln) c.1051G>C (p.Glu351Gln) | |
10 | g.13126019G>T | CA376029720 | OPTN | c.1222G>T (p.Glu408Ter) c.1204G>T (p.Glu402Ter) c.1051G>T (p.Glu351Ter) | |
10 | g.13126020A= | CA1891470929 | OPTN | c.1223A= (p.Glu408=) c.1205A= (p.Glu402=) c.1052A= (p.Glu351=) | |
10 | g.13126020A>C | CA376029721 | OPTN | c.1223A>C (p.Glu408Ala) c.1205A>C (p.Glu402Ala) c.1052A>C (p.Glu351Ala) | |
10 | g.13126020A>G | CA376029722 | OPTN | c.1223A>G (p.Glu408Gly) c.1205A>G (p.Glu402Gly) c.1052A>G (p.Glu351Gly) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.13126020A>T | CA376029723 | OPTN | c.1223A>T (p.Glu408Val) c.1205A>T (p.Glu402Val) c.1052A>T (p.Glu351Val) | |
10 | g.13126021G>A | CA468240679 | OPTN | c.1224G>A (p.Glu408=) c.1206G>A (p.Glu402=) c.1053G>A (p.Glu351=) | |
10 | g.13126021G>C | CA376029724 | OPTN | c.1224G>C (p.Glu408Asp) c.1206G>C (p.Glu402Asp) c.1053G>C (p.Glu351Asp) | dbSNP |
10 | g.13126021G= | CA1891470930 | OPTN | c.1224G= (p.Glu408=) c.1206G= (p.Glu402=) c.1053G= (p.Glu351=) | |
10 | g.13126021G>T | CA376029725 | OPTN | c.1224G>T (p.Glu408Asp) c.1206G>T (p.Glu402Asp) c.1053G>T (p.Glu351Asp) | |
10 | g.13126022G>A | CA376029726 | OPTN | c.1225G>A (p.Glu409Lys) c.1207G>A (p.Glu403Lys) c.1054G>A (p.Glu352Lys) | |
10 | g.13126022G>C | CA376029727 | OPTN | c.1225G>C (p.Glu409Gln) c.1207G>C (p.Glu403Gln) c.1054G>C (p.Glu352Gln) | |
10 | g.13126022G>T | CA376029728 | OPTN | c.1225G>T (p.Glu409Ter) c.1207G>T (p.Glu403Ter) c.1054G>T (p.Glu352Ter) | |
10 | g.13126023A>C | CA376029729 | OPTN | c.1226A>C (p.Glu409Ala) c.1208A>C (p.Glu403Ala) c.1055A>C (p.Glu352Ala) | |
10 | g.13126023A>G | CA376029730 | OPTN | c.1226A>G (p.Glu409Gly) c.1208A>G (p.Glu403Gly) c.1055A>G (p.Glu352Gly) | |
10 | g.13126023A>T | CA376029731 | OPTN | c.1226A>T (p.Glu409Val) c.1208A>T (p.Glu403Val) c.1055A>T (p.Glu352Val) | |
10 | g.13126024A>C | CA376029732 | OPTN | c.1227A>C (p.Glu409Asp) c.1209A>C (p.Glu403Asp) c.1056A>C (p.Glu352Asp) | |
10 | g.13126024A>G | CA468240680 | OPTN | c.1227A>G (p.Glu409=) c.1209A>G (p.Glu403=) c.1056A>G (p.Glu352=) | gnomAD v4 |
10 | g.13126024A>T | CA376029733 | OPTN | c.1227A>T (p.Glu409Asp) c.1209A>T (p.Glu403Asp) c.1056A>T (p.Glu352Asp) | |
10 | g.13126025C>A | CA376029734 | OPTN | c.1228C>A (p.Leu410Ile) c.1210C>A (p.Leu404Ile) c.1057C>A (p.Leu353Ile) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.13126025C= | CA1891470933 | OPTN | c.1228C= (p.Leu410=) c.1210C= (p.Leu404=) c.1057C= (p.Leu353=) | |
10 | g.13126025C>G | CA376029735 | OPTN | c.1228C>G (p.Leu410Val) c.1210C>G (p.Leu404Val) c.1057C>G (p.Leu353Val) | |
10 | g.13126025C>T | CA468240681 | OPTN | c.1228C>T (p.Leu410=) c.1210C>T (p.Leu404=) c.1057C>T (p.Leu353=) | |
10 | g.13126026T>A | CA376029736 | OPTN | c.1229T>A (p.Leu410Gln) c.1211T>A (p.Leu404Gln) c.1058T>A (p.Leu353Gln) | |
10 | g.13126026T>C | CA5410905 | OPTN | c.1229T>C (p.Leu410Pro) c.1211T>C (p.Leu404Pro) c.1058T>C (p.Leu353Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13126026T>G | CA376029737 | OPTN | c.1229T>G (p.Leu410Arg) c.1211T>G (p.Leu404Arg) c.1058T>G (p.Leu353Arg) | |
10 | g.13126026T= | CA1891470935 | OPTN | c.1229T= (p.Leu410=) c.1211T= (p.Leu404=) c.1058T= (p.Leu353=) | |
10 | g.13126027A= | CA1891470939 | OPTN | c.1230A= (p.Leu410=) c.1212A= (p.Leu404=) c.1059A= (p.Leu353=) | |
10 | g.13126027A>C | CA468240682 | OPTN | c.1230A>C (p.Leu410=) c.1212A>C (p.Leu404=) c.1059A>C (p.Leu353=) | |
10 | g.13126027A>G | CA5410906 | OPTN | c.1230A>G (p.Leu410=) c.1212A>G (p.Leu404=) c.1059A>G (p.Leu353=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13126027A>T | CA468240683 | OPTN | c.1230A>T (p.Leu410=) c.1212A>T (p.Leu404=) c.1059A>T (p.Leu353=) | |
10 | g.13126028A>C | CA376029738 | OPTN | c.1231A>C (p.Thr411Pro) c.1213A>C (p.Thr405Pro) c.1060A>C (p.Thr354Pro) | |
10 | g.13126028A>G | CA376029739 | OPTN | c.1231A>G (p.Thr411Ala) c.1213A>G (p.Thr405Ala) c.1060A>G (p.Thr354Ala) | |
10 | g.13126028A>T | CA376029740 | OPTN | c.1231A>T (p.Thr411Ser) c.1213A>T (p.Thr405Ser) c.1060A>T (p.Thr354Ser) | |
10 | g.13126029C>A | CA376029741 | OPTN | c.1232C>A (p.Thr411Lys) c.1214C>A (p.Thr405Lys) c.1061C>A (p.Thr354Lys) | gnomAD v4 |
10 | g.13126029C>G | CA376029742 | OPTN | c.1232C>G (p.Thr411Arg) c.1214C>G (p.Thr405Arg) c.1061C>G (p.Thr354Arg) | gnomAD v4 |
10 | g.13126029C>T | CA376029743 | OPTN | c.1232C>T (p.Thr411Ile) c.1214C>T (p.Thr405Ile) c.1061C>T (p.Thr354Ile) | |
10 | g.13126030A>C | CA468240684 | OPTN | c.1233A>C (p.Thr411=) c.1215A>C (p.Thr405=) c.1062A>C (p.Thr354=) | |
10 | g.13126030A>G | CA468240685 | OPTN | c.1233A>G (p.Thr411=) c.1215A>G (p.Thr405=) c.1062A>G (p.Thr354=) | |
10 | g.13126030A>T | CA468240686 | OPTN | c.1233A>T (p.Thr411=) c.1215A>T (p.Thr405=) c.1062A>T (p.Thr354=) | |
10 | g.13126031A>C | CA468240687 | OPTN | c.1234A>C (p.Arg412=) c.1216A>C (p.Arg406=) c.1063A>C (p.Arg355=) | |
10 | g.13126031A>G | CA376029744 | OPTN | c.1234A>G (p.Arg412Gly) c.1216A>G (p.Arg406Gly) c.1063A>G (p.Arg355Gly) | |
10 | g.13126031A>T | CA376029745 | OPTN | c.1234A>T (p.Arg412Ter) c.1216A>T (p.Arg406Ter) c.1063A>T (p.Arg355Ter) | |
10 | g.13126032G>A | CA376029746 | OPTN | c.1235G>A (p.Arg412Lys) c.1217G>A (p.Arg406Lys) c.1064G>A (p.Arg355Lys) | dbSNP |
10 | g.13126032G>C | CA376029748 | OPTN | c.1235G>C (p.Arg412Thr) c.1217G>C (p.Arg406Thr) c.1064G>C (p.Arg355Thr) | |
10 | g.13126032G= | CA1891470948 | OPTN | c.1235G= (p.Arg412=) c.1217G= (p.Arg406=) c.1064G= (p.Arg355=) | |
10 | g.13126032G>T | CA376029747 | OPTN | c.1235G>T (p.Arg412Ile) c.1217G>T (p.Arg406Ile) c.1064G>T (p.Arg355Ile) | |
10 | g.13126033A>C | CA376029749 | OPTN | c.1236A>C (p.Arg412Ser) c.1218A>C (p.Arg406Ser) c.1065A>C (p.Arg355Ser) | |
10 | g.13126033A>G | CA468240688 | OPTN | c.1236A>G (p.Arg412=) c.1218A>G (p.Arg406=) c.1065A>G (p.Arg355=) | |
10 | g.13126033A>T | CA376029750 | OPTN | c.1236A>T (p.Arg412Ser) c.1218A>T (p.Arg406Ser) c.1065A>T (p.Arg355Ser) | |
10 | g.13126034A= | CA1891470950 | OPTN | c.1237A= (p.Lys413=) c.1219A= (p.Lys407=) c.1066A= (p.Lys356=) | |
10 | g.13126034A>C | CA376029751 | OPTN | c.1237A>C (p.Lys413Gln) c.1219A>C (p.Lys407Gln) c.1066A>C (p.Lys356Gln) | |
10 | g.13126034A>G | CA376029753 | OPTN | c.1237A>G (p.Lys413Glu) c.1219A>G (p.Lys407Glu) c.1066A>G (p.Lys356Glu) | dbSNP |
10 | g.13126034A>T | CA376029752 | OPTN | c.1237A>T (p.Lys413Ter) c.1219A>T (p.Lys407Ter) c.1066A>T (p.Lys356Ter) | |
10 | g.13126035A>C | CA376029754 | OPTN | c.1238A>C (p.Lys413Thr) c.1220A>C (p.Lys407Thr) c.1067A>C (p.Lys356Thr) | |
10 | g.13126035A>G | CA376029755 | OPTN | c.1238A>G (p.Lys413Arg) c.1220A>G (p.Lys407Arg) c.1067A>G (p.Lys356Arg) | gnomAD v4 |
10 | g.13126035A>T | CA376029756 | OPTN | c.1238A>T (p.Lys413Ile) c.1220A>T (p.Lys407Ile) c.1067A>T (p.Lys356Ile) | |
10 | g.13126035_13126037delinsAAG | CA1891470952 | OPTN | c.1238_1240delinsAAG (p.Lys413=) c.1220_1222delinsAAG (p.Lys407=) c.1067_1069delinsAAG (p.Lys356=) | |
10 | g.13126036A>C | CA376029757 | OPTN | c.1239A>C (p.Lys413Asn) c.1221A>C (p.Lys407Asn) c.1068A>C (p.Lys356Asn) | |
10 | g.13126036A>G | CA468240689 | OPTN | c.1239A>G (p.Lys413=) c.1221A>G (p.Lys407=) c.1068A>G (p.Lys356=) | |
10 | g.13126036A>T | CA376029758 | OPTN | c.1239A>T (p.Lys413Asn) c.1221A>T (p.Lys407Asn) c.1068A>T (p.Lys356Asn) | |
10 | g.13126038_13126039del | CA5410907 | OPTN | c.1241_1242del (p.Glu414ValfsTer14) c.1223_1224del (p.Glu408ValfsTer14) c.1070_1071del (p.Glu357ValfsTer14) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13126037G>A | CA376029759 | OPTN | c.1240G>A (p.Glu414Lys) c.1222G>A (p.Glu408Lys) c.1069G>A (p.Glu357Lys) | |
10 | g.13126037G>C | CA376029760 | OPTN | c.1240G>C (p.Glu414Gln) c.1222G>C (p.Glu408Gln) c.1069G>C (p.Glu357Gln) | |
10 | g.13126037G= | CA1891470957 | OPTN | c.1240G= (p.Glu414=) c.1222G= (p.Glu408=) c.1069G= (p.Glu357=) | |
10 | g.13126037G>T | CA376029761 | OPTN | c.1240G>T (p.Glu414Ter) c.1222G>T (p.Glu408Ter) c.1069G>T (p.Glu357Ter) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
10 | g.13126038A= | CA1891470962 | OPTN | c.1241A= (p.Glu414=) c.1223A= (p.Glu408=) c.1070A= (p.Glu357=) | |
10 | g.13126038A>C | CA376029762 | OPTN | c.1241A>C (p.Glu414Ala) c.1223A>C (p.Glu408Ala) c.1070A>C (p.Glu357Ala) | |
10 | g.13126038A>G | CA376029763 | OPTN | c.1241A>G (p.Glu414Gly) c.1223A>G (p.Glu408Gly) c.1070A>G (p.Glu357Gly) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.13126038A>T | CA376029764 | OPTN | c.1241A>T (p.Glu414Val) c.1223A>T (p.Glu408Val) c.1070A>T (p.Glu357Val) | |
10 | g.13126039G>A | CA468240690 | OPTN | c.1242G>A (p.Glu414=) c.1224G>A (p.Glu408=) c.1071G>A (p.Glu357=) | dbSNP gnomAD v4 |
10 | g.13126039G>C | CA376029765 | OPTN | c.1242G>C (p.Glu414Asp) c.1224G>C (p.Glu408Asp) c.1071G>C (p.Glu357Asp) | |
10 | g.13126039G= | CA1891470966 | OPTN | c.1242G= (p.Glu414=) c.1224G= (p.Glu408=) c.1071G= (p.Glu357=) | |
10 | g.13126039G>T | CA376029766 | OPTN | c.1242G>T (p.Glu414Asp) c.1224G>T (p.Glu408Asp) c.1071G>T (p.Glu357Asp) | |
10 | g.13126040_13126049del | CA2786690937 | OPTN | c.1242+1_1242+10del c.1224+1_1224+10del c.1071+1_1071+10del | |
10 | g.13126040G>A | CA376029767 | OPTN | c.1242+1G>A (n.1242+1G>A) c.1224+1G>A (n.1224+1G>A) c.1071+1G>A (n.1071+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.13126040G>C | CA376029768 | OPTN | c.1242+1G>C (n.1242+1G>C) c.1224+1G>C (n.1224+1G>C) c.1071+1G>C (n.1071+1G>C) | |
10 | g.13126040G= | CA1891470969 | OPTN | c.1242+1G= (n.1242+1G=) c.1224+1G= (n.1224+1G=) c.1071+1G= (n.1071+1G=) | |
10 | g.13126040G>T | CA376029769 | OPTN | c.1242+1G>T (n.1242+1G>T) c.1224+1G>T (n.1224+1G>T) c.1071+1G>T (n.1071+1G>T) | |
10 | g.13126040delinsAA | CA2573130249 | OPTN | c.1242+1delinsAA (n.1242+1delinsAA) c.1224+1delinsAA (n.1224+1delinsAA) c.1071+1delinsAA (n.1071+1delinsAA) | |
10 | g.13126041T>A | CA376029770 | OPTN | c.1242+2T>A (n.1242+2T>A) c.1224+2T>A (n.1224+2T>A) c.1071+2T>A (n.1071+2T>A) | |
10 | g.13126041T>C | CA376029771 | OPTN | c.1242+2T>C (n.1242+2T>C) c.1224+2T>C (n.1224+2T>C) c.1071+2T>C (n.1071+2T>C) | dbSNP |
10 | g.13126041T>G | CA376029772 | OPTN | c.1242+2T>G (n.1242+2T>G) c.1224+2T>G (n.1224+2T>G) c.1071+2T>G (n.1071+2T>G) | |
10 | g.13126041T= | CA1891470970 | OPTN | c.1242+2T= (n.1242+2T=) c.1224+2T= (n.1224+2T=) c.1071+2T= (n.1071+2T=) | |
10 | g.13126043T>G | CA5410908 | OPTN | c.1242+4T>G (n.1242+4T>G) c.1224+4T>G (n.1224+4T>G) c.1071+4T>G (n.1071+4T>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
10 | g.13126043T= | CA1891470972 | OPTN | c.1242+4T= (n.1242+4T=) c.1224+4T= (n.1224+4T=) c.1071+4T= (n.1071+4T=) | |
10 | g.13126043_13126045del | CA2786690942 | OPTN | c.1242+4_1242+6del (n.1242+4_1242+6del) c.1224+4_1224+6del (n.1224+4_1224+6del) c.1071+4_1071+6del (n.1071+4_1071+6del) | |
10 | g.13126044T>G | CA2608268420 | OPTN | c.1242+5T>G (n.1242+5T>G) c.1224+5T>G (n.1224+5T>G) c.1071+5T>G (n.1071+5T>G) | gnomAD v4 |
10 | g.13126045C= | CA1891470977 | OPTN | c.1242+6C= (n.1242+6C=) c.1224+6C= (n.1224+6C=) c.1071+6C= (n.1071+6C=) | |
10 | g.13126045C>T | CA203267978 | OPTN | c.1242+6C>T (n.1242+6C>T) c.1224+6C>T (n.1224+6C>T) c.1071+6C>T (n.1071+6C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.13126046A= | CA1891470979 | OPTN | c.1242+7A= (n.1242+7A=) c.1224+7A= (n.1224+7A=) c.1071+7A= (n.1071+7A=) | |
10 | g.13126046A>T | CA592076044 | OPTN | c.1242+7A>T (n.1242+7A>T) c.1224+7A>T (n.1224+7A>T) c.1071+7A>T (n.1071+7A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13126047C>T | CA2608268421 | OPTN | c.1242+8C>T (n.1242+8C>T) c.1224+8C>T (n.1224+8C>T) c.1071+8C>T (n.1071+8C>T) | gnomAD v4 |
10 | g.13126048T>A | CA5410909 | OPTN | c.1242+9T>A (n.1242+9T>A) c.1224+9T>A (n.1224+9T>A) c.1071+9T>A (n.1071+9T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.13126048T>C | CA2608268422 | OPTN | c.1242+9T>C (n.1242+9T>C) c.1224+9T>C (n.1224+9T>C) c.1071+9T>C (n.1071+9T>C) | gnomAD v4 |
10 | g.13126048T= | CA1891470983 | OPTN | c.1242+9T= (n.1242+9T=) c.1224+9T= (n.1224+9T=) c.1071+9T= (n.1071+9T=) | |
10 | g.13126048_13126051del | CA2786690947 | OPTN | c.1242+9_1242+12del (n.1242+9_1242+12del) c.1224+9_1224+12del (n.1224+9_1224+12del) c.1071+9_1071+12del (n.1071+9_1071+12del) | |
10 | g.13126049G>T | CA2574491364 | OPTN | c.1242+10G>T (n.1242+10G>T) c.1224+10G>T (n.1224+10G>T) c.1071+10G>T (n.1071+10G>T) | gnomAD v4 |
10 | g.13126049_13126050delinsGA | CA1891470991 | OPTN | c.1242+10_1242+11delinsGA (n.1242+10_1242+11delinsGA) c.1224+10_1224+11delinsGA (n.1224+10_1224+11delinsGA) c.1071+10_1071+11delinsGA (n.1071+10_1071+11delinsGA) | |
10 | g.13126056_13126057insAAAAAAAAAA | CA2786690954 | OPTN | c.1242+17_1242+18insAAAAAAAAAA (n.1242+17_1242+18insAAAAAAAAAA) c.1224+17_1224+18insAAAAAAAAAA (n.1224+17_1224+18insAAAAAAAAAA) c.1071+17_1071+18insAAAAAAAAAA (n.1071+17_1071+18insAAAAAAAAAA) | |
10 | g.13126056dup | CA592076046 | OPTN | c.1242+17dup (n.1242+17dup) c.1224+17dup (n.1224+17dup) c.1071+17dup (n.1071+17dup) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.13126056del | CA5410910 | OPTN | c.1242+17del (n.1242+17del) c.1224+17del (n.1224+17del) c.1071+17del (n.1071+17del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13126054A= | CA1891470995 | OPTN | c.1242+15A= (n.1242+15A=) c.1224+15A= (n.1224+15A=) c.1071+15A= (n.1071+15A=) | |
10 | g.13126054A>C | CA1891470996 | OPTN | c.1242+15A>C (n.1242+15A>C) c.1224+15A>C (n.1224+15A>C) c.1071+15A>C (n.1071+15A>C) | dbSNP |
10 | g.13126055_13126056insCCCAAACACACCCAACAC | CA2786690958 | OPTN | c.1242+16_1242+17insCCCAAACACACCCAACAC (n.1242+16_1242+17insCCCAAACACACCCAACAC) c.1224+16_1224+17insCCCAAACACACCCAACAC (n.1224+16_1224+17insCCCAAACACACCCAACAC) c.1071+16_1071+17insCCCAAACACACCCAACAC (n.1071+16_1071+17insCCCAAACACACCCAACAC) | |
10 | g.13126055_13126056insCAAACCAAACACACCCAACAC | CA2786690957 | OPTN | c.1242+16_1242+17insCAAACCAAACACACCCAACAC (n.1242+16_1242+17insCAAACCAAACACACCCAACAC) c.1224+16_1224+17insCAAACCAAACACACCCAACAC (n.1224+16_1224+17insCAAACCAAACACACCCAACAC) c.1071+16_1071+17insCAAACCAAACACACCCAACAC (n.1071+16_1071+17insCAAACCAAACACACCCAACAC) | |
10 | g.13126057T= | CA1891470998 | OPTN | c.1242+18T= (n.1242+18T=) c.1224+18T= (n.1224+18T=) c.1071+18T= (n.1071+18T=) | |
10 | g.13126057_13126058insCTTTTCTGAAAAA | CA5410911 | OPTN | c.1242+18_1242+19insCTTTTCTGAAAAA (n.1242+18_1242+19insCTTTTCTGAAAAA) c.1224+18_1224+19insCTTTTCTGAAAAA (n.1224+18_1224+19insCTTTTCTGAAAAA) c.1071+18_1071+19insCTTTTCTGAAAAA (n.1071+18_1071+19insCTTTTCTGAAAAA) | dbSNP ExAC |
10 | g.13126059A= | CA1891471012 | OPTN | c.1242+20A= (n.1242+20A=) c.1224+20A= (n.1224+20A=) c.1071+20A= (n.1071+20A=) | |
10 | g.13126059A>G | CA592076047 | OPTN | c.1242+20A>G (n.1242+20A>G) c.1224+20A>G (n.1224+20A>G) c.1071+20A>G (n.1071+20A>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.13126060C>A | CA2574491368 | OPTN | c.1242+21C>A (n.1242+21C>A) c.1224+21C>A (n.1224+21C>A) c.1071+21C>A (n.1071+21C>A) | gnomAD v4 |
10 | g.13126060C= | CA1891471014 | OPTN | c.1242+21C= (n.1242+21C=) c.1224+21C= (n.1224+21C=) c.1071+21C= (n.1071+21C=) | |
10 | g.13126061T>A | CA925104110 | OPTN | c.1242+22T>A (n.1242+22T>A) c.1224+22T>A (n.1224+22T>A) c.1071+22T>A (n.1071+22T>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.13126061T= | CA1891471020 | OPTN | c.1242+22T= (n.1242+22T=) c.1224+22T= (n.1224+22T=) c.1071+22T= (n.1071+22T=) | |
10 | g.13126061_13126062dup | CA5410912 | OPTN | c.1242+22_1242+23dup (n.1242+22_1242+23dup) c.1224+22_1224+23dup (n.1224+22_1224+23dup) c.1071+22_1071+23dup (n.1071+22_1071+23dup) | dbSNP ExAC |
10 | g.13126063C>A | CA2608268423 | OPTN | c.1242+24C>A (n.1242+24C>A) c.1224+24C>A (n.1224+24C>A) c.1071+24C>A (n.1071+24C>A) | gnomAD v4 |
10 | g.13126063_13126076delinsCCATAGCCTAGTAA | CA1891471023 | OPTN | c.1242+24_1242+37delinsCCATAGCCTAGTAA (n.1242+24_1242+37delinsCCATAGCCTAGTAA) c.1224+24_1224+37delinsCCATAGCCTAGTAA (n.1224+24_1224+37delinsCCATAGCCTAGTAA) c.1071+24_1071+37delinsCCATAGCCTAGTAA (n.1071+24_1071+37delinsCCATAGCCTAGTAA) | |
10 | g.13126064C>A | CA2574491372 | OPTN | c.1242+25C>A (n.1242+25C>A) c.1224+25C>A (n.1224+25C>A) c.1071+25C>A (n.1071+25C>A) | gnomAD v4 |
10 | g.13126064C>T | CA2608268424 | OPTN | c.1242+25C>T (n.1242+25C>T) c.1224+25C>T (n.1224+25C>T) c.1071+25C>T (n.1071+25C>T) | gnomAD v4 |
10 | g.13126064_13126076del | CA5410913 | OPTN | c.1242+25_1242+37del (n.1242+25_1242+37del) c.1224+25_1224+37del (n.1224+25_1224+37del) c.1071+25_1071+37del (n.1071+25_1071+37del) | dbSNP ExAC |
10 | g.13126065A= | CA1891471028 | OPTN | c.1242+26A= (n.1242+26A=) c.1224+26A= (n.1224+26A=) c.1071+26A= (n.1071+26A=) | |
10 | g.13126065A>G | CA1891471027 | OPTN | c.1242+26A>G (n.1242+26A>G) c.1224+26A>G (n.1224+26A>G) c.1071+26A>G (n.1071+26A>G) | dbSNP gnomAD v4 |
10 | g.13126065A>T | CA661778124 | OPTN | c.1242+26A>T (n.1242+26A>T) c.1224+26A>T (n.1224+26A>T) c.1071+26A>T (n.1071+26A>T) | dbSNP gnomAD v4 |
10 | g.13126066T>C | CA592076048 | OPTN | c.1242+27T>C (n.1242+27T>C) c.1224+27T>C (n.1224+27T>C) c.1071+27T>C (n.1071+27T>C) | dbSNP gnomAD v2 |
10 | g.13126066T= | CA1891471037 | OPTN | c.1242+27T= (n.1242+27T=) c.1224+27T= (n.1224+27T=) c.1071+27T= (n.1071+27T=) | |
10 | g.13126067A>G | CA2786690959 | OPTN | c.1242+28A>G (n.1242+28A>G) c.1224+28A>G (n.1224+28A>G) c.1071+28A>G (n.1071+28A>G) | |
10 | g.13126069C>A | CA2574491374 | OPTN | c.1242+30C>A (n.1242+30C>A) c.1224+30C>A (n.1224+30C>A) c.1071+30C>A (n.1071+30C>A) | gnomAD v4 |
10 | g.13126069C= | CA1891471042 | OPTN | c.1242+30C= (n.1242+30C=) c.1224+30C= (n.1224+30C=) c.1071+30C= (n.1071+30C=) | |
10 | g.13126069C>T | CA5410914 | OPTN | c.1242+30C>T (n.1242+30C>T) c.1224+30C>T (n.1224+30C>T) c.1071+30C>T (n.1071+30C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13126070C>A | CA1891471047 | OPTN | c.1242+31C>A (n.1242+31C>A) c.1224+31C>A (n.1224+31C>A) c.1071+31C>A (n.1071+31C>A) | dbSNP gnomAD v4 |
10 | g.13126070C= | CA1891471046 | OPTN | c.1242+31C= (n.1242+31C=) c.1224+31C= (n.1224+31C=) c.1071+31C= (n.1071+31C=) | |
10 | g.13126071del | CA2786690967 | OPTN | c.1242+32del (n.1242+32del) c.1224+32del (n.1224+32del) c.1071+32del (n.1071+32del) | |
10 | g.13126071T>A | CA2548373011 | OPTN | c.1242+32T>A (n.1242+32T>A) c.1224+32T>A (n.1224+32T>A) c.1071+32T>A (n.1071+32T>A) | gnomAD v4 |
10 | g.13126071T>C | CA925104113 | OPTN | c.1242+32T>C (n.1242+32T>C) c.1224+32T>C (n.1224+32T>C) c.1071+32T>C (n.1071+32T>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.13126071T= | CA1891471049 | OPTN | c.1242+32T= (n.1242+32T=) c.1224+32T= (n.1224+32T=) c.1071+32T= (n.1071+32T=) | |
10 | g.13126072A= | CA1891471053 | OPTN | c.1242+33A= (n.1242+33A=) c.1224+33A= (n.1224+33A=) c.1071+33A= (n.1071+33A=) | |
10 | g.13126072A>G | CA5410915 | OPTN | c.1242+33A>G (n.1242+33A>G) c.1224+33A>G (n.1224+33A>G) c.1071+33A>G (n.1071+33A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.13126072_13126073insCCT | CA2839563883 | OPTN | c.1242+33_1242+34insCCT (n.1242+33_1242+34insCCT) c.1224+33_1224+34insCCT (n.1224+33_1224+34insCCT) c.1071+33_1071+34insCCT (n.1071+33_1071+34insCCT) | |
10 | g.13126073G>A | CA592076049 | OPTN | c.1242+34G>A (n.1242+34G>A) c.1224+34G>A (n.1224+34G>A) c.1071+34G>A (n.1071+34G>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.13126073G>C | CA203267990 | OPTN | c.1242+34G>C (n.1242+34G>C) c.1224+34G>C (n.1224+34G>C) c.1071+34G>C (n.1071+34G>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.13126073G= | CA1891471058 | OPTN | c.1242+34G= (n.1242+34G=) c.1224+34G= (n.1224+34G=) c.1071+34G= (n.1071+34G=) | |
10 | g.13126073G>T | CA2839563884 | OPTN | c.1242+34G>T (n.1242+34G>T) c.1224+34G>T (n.1224+34G>T) c.1071+34G>T (n.1071+34G>T) | |
10 | g.13126074T>A | CA1891471062 | OPTN | c.1242+35T>A (n.1242+35T>A) c.1224+35T>A (n.1224+35T>A) c.1071+35T>A (n.1071+35T>A) | dbSNP |
10 | g.13126074T= | CA1891471061 | OPTN | c.1242+35T= (n.1242+35T=) c.1224+35T= (n.1224+35T=) c.1071+35T= (n.1071+35T=) | |
10 | g.13126076A= | CA1891471065 | OPTN | c.1242+37A= (n.1242+37A=) c.1224+37A= (n.1224+37A=) c.1071+37A= (n.1071+37A=) | |
10 | g.13126076A>G | CA592076051 | OPTN | c.1242+37A>G (n.1242+37A>G) c.1224+37A>G (n.1224+37A>G) c.1071+37A>G (n.1071+37A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.13126077T>A | CA2608268425 | OPTN | c.1242+38T>A (n.1242+38T>A) c.1224+38T>A (n.1224+38T>A) c.1071+38T>A (n.1071+38T>A) | gnomAD v4 |
10 | g.13126078G>T | CA2608268426 | OPTN | c.1242+39G>T (n.1242+39G>T) c.1224+39G>T (n.1224+39G>T) c.1071+39G>T (n.1071+39G>T) | gnomAD v4 |
10 | g.13126079A>C | CA2574491377 | OPTN | c.1242+40A>C (n.1242+40A>C) c.1224+40A>C (n.1224+40A>C) c.1071+40A>C (n.1071+40A>C) | gnomAD v4 |
10 | g.13126080A>G | CA2608268427 | OPTN | c.1242+41A>G (n.1242+41A>G) c.1224+41A>G (n.1224+41A>G) c.1071+41A>G (n.1071+41A>G) | gnomAD v4 |
10 | g.13126081C>A | CA2574491379 | OPTN | c.1242+42C>A (n.1242+42C>A) c.1224+42C>A (n.1224+42C>A) c.1071+42C>A (n.1071+42C>A) | gnomAD v4 |
10 | g.13126081C= | CA1891471072 | OPTN | c.1242+42C= (n.1242+42C=) c.1224+42C= (n.1224+42C=) c.1071+42C= (n.1071+42C=) | |
10 | g.13126081C>T | CA592076052 | OPTN | c.1242+42C>T (n.1242+42C>T) c.1224+42C>T (n.1224+42C>T) c.1071+42C>T (n.1071+42C>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.13126083G>A | CA592076053 | OPTN | c.1242+44G>A (n.1242+44G>A) c.1224+44G>A (n.1224+44G>A) c.1071+44G>A (n.1071+44G>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.13126083G= | CA1891471087 | OPTN | c.1242+44G= (n.1242+44G=) c.1224+44G= (n.1224+44G=) c.1071+44G= (n.1071+44G=) | |
10 | g.13126083G>T | CA2608268428 | OPTN | c.1242+44G>T (n.1242+44G>T) c.1224+44G>T (n.1224+44G>T) c.1071+44G>T (n.1071+44G>T) | gnomAD v4 |
10 | g.13126085A= | CA1891471091 | OPTN | c.1242+46A= (n.1242+46A=) c.1224+46A= (n.1224+46A=) c.1071+46A= (n.1071+46A=) | |
10 | g.13126085A>G | CA661778153 | OPTN | c.1242+46A>G (n.1242+46A>G) c.1224+46A>G (n.1224+46A>G) c.1071+46A>G (n.1071+46A>G) | dbSNP gnomAD v4 |
10 | g.13126086A= | CA1891471094 | OPTN | c.1242+47A= (n.1242+47A=) c.1224+47A= (n.1224+47A=) c.1071+47A= (n.1071+47A=) | |
10 | g.13126086A>T | CA1891471095 | OPTN | c.1242+47A>T (n.1242+47A>T) c.1224+47A>T (n.1224+47A>T) c.1071+47A>T (n.1071+47A>T) | dbSNP |
10 | g.13126087C>A | CA2608268429 | OPTN | c.1242+48C>A (n.1242+48C>A) c.1224+48C>A (n.1224+48C>A) c.1071+48C>A (n.1071+48C>A) | gnomAD v4 |
10 | g.13126087C>T | CA2608268430 | OPTN | c.1242+48C>T (n.1242+48C>T) c.1224+48C>T (n.1224+48C>T) c.1071+48C>T (n.1071+48C>T) | gnomAD v4 |
10 | g.13126088T>C | CA2608268431 | OPTN | c.1242+49T>C (n.1242+49T>C) c.1224+49T>C (n.1224+49T>C) c.1071+49T>C (n.1071+49T>C) | gnomAD v4 |
10 | g.13126088T= | CA1891471096 | OPTN | c.1242+49T= (n.1242+49T=) c.1224+49T= (n.1224+49T=) c.1071+49T= (n.1071+49T=) | |
10 | g.13126088_13126089insTATA | CA592076055 | OPTN | c.1242+49_1242+50insTATA (n.1242+49_1242+50insTATA) c.1224+49_1224+50insTATA (n.1224+49_1224+50insTATA) c.1071+49_1071+50insTATA (n.1071+49_1071+50insTATA) | dbSNP gnomAD v2 |
10 | g.13126089G= | CA1891471098 | OPTN | c.1242+50G= (n.1242+50G=) c.1224+50G= (n.1224+50G=) c.1071+50G= (n.1071+50G=) | |
10 | g.13126089_13126093del | CA2786690971 | OPTN | c.1242+50_1242+54del (n.1242+50_1242+54del) c.1224+50_1224+54del (n.1224+50_1224+54del) c.1071+50_1071+54del (n.1071+50_1071+54del) | |
10 | g.13126089_13126101del | CA2841785992 | OPTN | c.1242+50_1242+62del (n.1242+50_1242+62del) c.1224+50_1224+62del (n.1224+50_1224+62del) c.1071+50_1071+62del (n.1071+50_1071+62del) | |
10 | g.13126090T>C | CA5410916 | OPTN | c.1242+51T>C (n.1242+51T>C) c.1224+51T>C (n.1224+51T>C) c.1071+51T>C (n.1071+51T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.13126090T= | CA1891471102 | OPTN | c.1242+51T= (n.1242+51T=) c.1224+51T= (n.1224+51T=) c.1071+51T= (n.1071+51T=) | |
10 | g.13126090_13126091insCT | CA592076057 | OPTN | c.1242+51_1242+52insCT (n.1242+51_1242+52insCT) c.1224+51_1224+52insCT (n.1224+51_1224+52insCT) c.1071+51_1071+52insCT (n.1071+51_1071+52insCT) | dbSNP gnomAD v2 |
10 | g.13126091T>C | CA661778178 | OPTN | c.1242+52T>C (n.1242+52T>C) c.1224+52T>C (n.1224+52T>C) c.1071+52T>C (n.1071+52T>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.13126091T>G | CA592076058 | OPTN | c.1242+52T>G (n.1242+52T>G) c.1224+52T>G (n.1224+52T>G) c.1071+52T>G (n.1071+52T>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.13126091T= | CA1891471103 | OPTN | c.1242+52T= (n.1242+52T=) c.1224+52T= (n.1224+52T=) c.1071+52T= (n.1071+52T=) | |
10 | g.13126092G>A | CA661778184 | OPTN | c.1242+53G>A (n.1242+53G>A) c.1224+53G>A (n.1224+53G>A) c.1071+53G>A (n.1071+53G>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.13126092G>C | CA2608268432 | OPTN | c.1242+53G>C (n.1242+53G>C) c.1224+53G>C (n.1224+53G>C) c.1071+53G>C (n.1071+53G>C) | gnomAD v4 |
10 | g.13126092G= | CA1891471107 | OPTN | c.1242+53G= (n.1242+53G=) c.1224+53G= (n.1224+53G=) c.1071+53G= (n.1071+53G=) | |
10 | g.13126092G>T | CA2608268433 | OPTN | c.1242+53G>T (n.1242+53G>T) c.1224+53G>T (n.1224+53G>T) c.1071+53G>T (n.1071+53G>T) | gnomAD v4 |
10 | g.13126094A= | CA1891471108 | OPTN | c.1242+55A= (n.1242+55A=) c.1224+55A= (n.1224+55A=) c.1071+55A= (n.1071+55A=) | |
10 | g.13126094A>G | CA2608268434 | OPTN | c.1242+55A>G (n.1242+55A>G) c.1224+55A>G (n.1224+55A>G) c.1071+55A>G (n.1071+55A>G) | gnomAD v4 |
10 | g.13126094A>T | CA203267993 | OPTN | c.1242+55A>T (n.1242+55A>T) c.1224+55A>T (n.1224+55A>T) c.1071+55A>T (n.1071+55A>T) | dbSNP |
10 | g.13126095C>A | CA2574491383 | OPTN | c.1242+56C>A (n.1242+56C>A) c.1224+56C>A (n.1224+56C>A) c.1071+56C>A (n.1071+56C>A) | gnomAD v4 |
10 | g.13126095C= | CA1891471110 | OPTN | c.1242+56C= (n.1242+56C=) c.1224+56C= (n.1224+56C=) c.1071+56C= (n.1071+56C=) | |
10 | g.13126095C>T | CA1891471112 | OPTN | c.1242+56C>T (n.1242+56C>T) c.1224+56C>T (n.1224+56C>T) c.1071+56C>T (n.1071+56C>T) | dbSNP gnomAD v4 |
10 | g.13126095_13126096insACA | CA2786690984 | OPTN | c.1242+56_1242+57insACA (n.1242+56_1242+57insACA) c.1224+56_1224+57insACA (n.1224+56_1224+57insACA) c.1071+56_1071+57insACA (n.1071+56_1071+57insACA) | |
10 | g.13126095_13126096insACT | CA2786690986 | OPTN | c.1242+56_1242+57insACT (n.1242+56_1242+57insACT) c.1224+56_1224+57insACT (n.1224+56_1224+57insACT) c.1071+56_1071+57insACT (n.1071+56_1071+57insACT) | |
10 | g.13126096G>A | CA1891471114 | OPTN | c.1242+57G>A (n.1242+57G>A) c.1224+57G>A (n.1224+57G>A) c.1071+57G>A (n.1071+57G>A) | dbSNP gnomAD v4 |
10 | g.13126096G>C | CA2608268435 | OPTN | c.1242+57G>C (n.1242+57G>C) c.1224+57G>C (n.1224+57G>C) c.1071+57G>C (n.1071+57G>C) | gnomAD v4 |
10 | g.13126096G= | CA1891471115 | OPTN | c.1242+57G= (n.1242+57G=) c.1224+57G= (n.1224+57G=) c.1071+57G= (n.1071+57G=) | |
10 | g.13126096G>T | CA2786690987 | OPTN | c.1242+57G>T (n.1242+57G>T) c.1224+57G>T (n.1224+57G>T) c.1071+57G>T (n.1071+57G>T) |