Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.15945848_15945879dup | CA2657954657 | MYCN | n.495_526dup c.1146_1177dup (p.Arg393LeufsTer31) c.513_544dup (p.Arg182LeufsTer31) c.*1081_*1112dup (n.*1081_*1112dup) | gnomAD v4 |
2 | g.15945854A>C | CA345932384 | MYCN | n.501A>C c.1152A>C (p.Arg384Ser) c.519A>C (p.Arg173Ser) c.*1087A>C (n.*1087A>C) | |
2 | g.15945854A>G | CA425092909 | MYCN | n.501A>G c.1152A>G (p.Arg384=) c.519A>G (p.Arg173=) c.*1087A>G (n.*1087A>G) | |
2 | g.15945854A>T | CA345932385 | MYCN | n.501A>T c.1152A>T (p.Arg384Ser) c.519A>T (p.Arg173Ser) c.*1087A>T (n.*1087A>T) | |
2 | g.15945855A>C | CA345932386 | MYCN | n.502A>C c.1153A>C (p.Asn385His) c.520A>C (p.Asn174His) c.*1088A>C (n.*1088A>C) | |
2 | g.15945855A>G | CA345932387 | MYCN | n.502A>G c.1153A>G (p.Asn385Asp) c.520A>G (p.Asn174Asp) c.*1088A>G (n.*1088A>G) | |
2 | g.15945855A>T | CA345932388 | MYCN | n.502A>T c.1153A>T (p.Asn385Tyr) c.520A>T (p.Asn174Tyr) c.*1088A>T (n.*1088A>T) | |
2 | g.15945856A>C | CA345932389 | MYCN | n.503A>C c.1154A>C (p.Asn385Thr) c.521A>C (p.Asn174Thr) c.*1089A>C (n.*1089A>C) | |
2 | g.15945856A>G | CA345932390 | MYCN | n.503A>G c.1154A>G (p.Asn385Ser) c.521A>G (p.Asn174Ser) c.*1089A>G (n.*1089A>G) | |
2 | g.15945856A>T | CA345932391 | MYCN | n.503A>T c.1154A>T (p.Asn385Ile) c.521A>T (p.Asn174Ile) c.*1089A>T (n.*1089A>T) | |
2 | g.15945856_15945857delinsAC | CA2491131216 | MYCN | n.503_504delinsAC c.1154_1155delinsAC (p.Asn385=) c.521_522delinsAC (p.Asn174=) c.*1089_*1090delinsAC (n.*1089_*1090delinsAC) | |
2 | g.15945857C>A | CA345932392 | MYCN | n.504C>A c.1155C>A (p.Asn385Lys) c.522C>A (p.Asn174Lys) c.*1090C>A (n.*1090C>A) | dbSNP |
2 | g.15945857C>G | CA345932393 | MYCN | n.504C>G c.1155C>G (p.Asn385Lys) c.522C>G (p.Asn174Lys) c.*1090C>G (n.*1090C>G) | |
2 | g.15945857C>T | CA425092913 | MYCN | n.504C>T c.1155C>T (p.Asn385=) c.522C>T (p.Asn174=) c.*1090C>T (n.*1090C>T) | gnomAD v4 |
2 | g.15945858del | CA915943700 | MYCN | n.505del c.1156del (p.His386ThrfsTer27) c.523del (p.His175ThrfsTer27) c.*1091del (n.*1091del) | ClinVar dbSNP |
2 | g.15945859_15945867del | CA2657954659 | MYCN | n.506_514del c.1157_1165del (p.His386_Ile388del) c.524_532del (p.His175_Ile177del) c.*1092_*1100del (n.*1092_*1100del) | gnomAD v4 |
2 | g.15945858C>A | CA345932394 | MYCN | n.505C>A c.1156C>A (p.His386Asn) c.523C>A (p.His175Asn) c.*1091C>A (n.*1091C>A) | |
2 | g.15945858C>G | CA345932396 | MYCN | n.505C>G c.1156C>G (p.His386Asp) c.523C>G (p.His175Asp) c.*1091C>G (n.*1091C>G) | |
2 | g.15945858C>T | CA345932395 | MYCN | n.505C>T c.1156C>T (p.His386Tyr) c.523C>T (p.His175Tyr) c.*1091C>T (n.*1091C>T) | |
2 | g.15945859_15945873dup | CA2657954660 | MYCN | n.506_520dup c.1157_1171dup (p.Glu390_Arg391insHisAsnIleLeuGlu) c.524_538dup (p.Glu179_Arg180insHisAsnIleLeuGlu) c.*1092_*1106dup (n.*1092_*1106dup) | gnomAD v4 |
2 | g.15945859A= | CA2491131217 | MYCN | n.506A= c.1157A= (p.His386=) c.524A= (p.His175=) c.*1092A= (n.*1092A=) | |
2 | g.15945859A>C | CA345932397 | MYCN | n.506A>C c.1157A>C (p.His386Pro) c.524A>C (p.His175Pro) c.*1092A>C (n.*1092A>C) | |
2 | g.15945859A>G | CA345932398 | MYCN | n.506A>G c.1157A>G (p.His386Arg) c.524A>G (p.His175Arg) c.*1092A>G (n.*1092A>G) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.15945859A>T | CA345932399 | MYCN | n.506A>T c.1157A>T (p.His386Leu) c.524A>T (p.His175Leu) c.*1092A>T (n.*1092A>T) | |
2 | g.15945860C>A | CA345932400 | MYCN | n.507C>A c.1158C>A (p.His386Gln) c.525C>A (p.His175Gln) c.*1093C>A (n.*1093C>A) | dbSNP |
2 | g.15945860C>G | CA345932401 | MYCN | n.507C>G c.1158C>G (p.His386Gln) c.525C>G (p.His175Gln) c.*1093C>G (n.*1093C>G) | |
2 | g.15945860C>T | CA425092616 | MYCN | n.507C>T c.1158C>T (p.His386=) c.525C>T (p.His175=) c.*1093C>T (n.*1093C>T) | |
2 | g.15945861A>C | CA345932402 | MYCN | n.508A>C c.1159A>C (p.Asn387His) c.526A>C (p.Asn176His) c.*1094A>C (n.*1094A>C) | |
2 | g.15945861A>G | CA345932403 | MYCN | n.508A>G c.1159A>G (p.Asn387Asp) c.526A>G (p.Asn176Asp) c.*1094A>G (n.*1094A>G) | |
2 | g.15945861A>T | CA345932404 | MYCN | n.508A>T c.1159A>T (p.Asn387Tyr) c.526A>T (p.Asn176Tyr) c.*1094A>T (n.*1094A>T) | |
2 | g.15945862A>C | CA345932405 | MYCN | n.509A>C c.1160A>C (p.Asn387Thr) c.527A>C (p.Asn176Thr) c.*1095A>C (n.*1095A>C) | |
2 | g.15945862A>G | CA345932406 | MYCN | n.509A>G c.1160A>G (p.Asn387Ser) c.527A>G (p.Asn176Ser) c.*1095A>G (n.*1095A>G) | |
2 | g.15945862A>T | CA345932407 | MYCN | n.509A>T c.1160A>T (p.Asn387Ile) c.527A>T (p.Asn176Ile) c.*1095A>T (n.*1095A>T) | |
2 | g.15945863C>A | CA345932408 | MYCN | n.510C>A c.1161C>A (p.Asn387Lys) c.528C>A (p.Asn176Lys) c.*1096C>A (n.*1096C>A) | dbSNP |
2 | g.15945863C= | CA2491131218 | MYCN | n.510C= c.1161C= (p.Asn387=) c.528C= (p.Asn176=) c.*1096C= (n.*1096C=) | |
2 | g.15945863C>G | CA345932409 | MYCN | n.510C>G c.1161C>G (p.Asn387Lys) c.528C>G (p.Asn176Lys) c.*1096C>G (n.*1096C>G) | dbSNP |
2 | g.15945863C>T | CA425092617 | MYCN | n.510C>T c.1161C>T (p.Asn387=) c.528C>T (p.Asn176=) c.*1096C>T (n.*1096C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15945864A= | CA2491131219 | MYCN | n.511A= c.1162A= (p.Ile388=) c.529A= (p.Ile177=) c.*1097A= (n.*1097A=) | |
2 | g.15945864A>C | CA345932410 | MYCN | n.511A>C c.1162A>C (p.Ile388Leu) c.529A>C (p.Ile177Leu) c.*1097A>C (n.*1097A>C) | |
2 | g.15945864A>G | CA345932411 | MYCN | n.511A>G c.1162A>G (p.Ile388Val) c.529A>G (p.Ile177Val) c.*1097A>G (n.*1097A>G) | |
2 | g.15945864A>T | CA345932412 | MYCN | n.511A>T c.1162A>T (p.Ile388Phe) c.529A>T (p.Ile177Phe) c.*1097A>T (n.*1097A>T) | |
2 | g.15945865T>A | CA345932413 | MYCN | n.512T>A c.1163T>A (p.Ile388Asn) c.530T>A (p.Ile177Asn) c.*1098T>A (n.*1098T>A) | dbSNP |
2 | g.15945865T>C | CA345932414 | MYCN | n.512T>C c.1163T>C (p.Ile388Thr) c.530T>C (p.Ile177Thr) c.*1098T>C (n.*1098T>C) | |
2 | g.15945865T>G | CA345932415 | MYCN | n.512T>G c.1163T>G (p.Ile388Ser) c.530T>G (p.Ile177Ser) c.*1098T>G (n.*1098T>G) | |
2 | g.15945865_15945866insGCT | CA2491131220 | MYCN | n.512_513insGCT c.1163_1164insGCT (p.Ile388delinsMetLeu) c.530_531insGCT (p.Ile177delinsMetLeu) c.*1098_*1099insGCT (n.*1098_*1099insGCT) | dbSNP |
2 | g.15945866C>A | CA425092623 | MYCN | n.513C>A c.1164C>A (p.Ile388=) c.531C>A (p.Ile177=) c.*1099C>A (n.*1099C>A) | |
2 | g.15945866C>G | CA345932416 | MYCN | n.513C>G c.1164C>G (p.Ile388Met) c.531C>G (p.Ile177Met) c.*1099C>G (n.*1099C>G) | dbSNP |
2 | g.15945866C>T | CA425092625 | MYCN | n.513C>T c.1164C>T (p.Ile388=) c.531C>T (p.Ile177=) c.*1099C>T (n.*1099C>T) | |
2 | g.15945867C>A | CA345932417 | MYCN | n.514C>A c.1165C>A (p.Leu389Met) c.532C>A (p.Leu178Met) c.*1100C>A (n.*1100C>A) | |
2 | g.15945867C= | CA2491131221 | MYCN | n.514C= c.1165C= (p.Leu389=) c.532C= (p.Leu178=) c.*1100C= (n.*1100C=) | |
2 | g.15945867C>G | CA345932418 | MYCN | n.514C>G c.1165C>G (p.Leu389Val) c.532C>G (p.Leu178Val) c.*1100C>G (n.*1100C>G) | dbSNP |
2 | g.15945867C>T | CA425092626 | MYCN | n.514C>T c.1165C>T (p.Leu389=) c.532C>T (p.Leu178=) c.*1100C>T (n.*1100C>T) | dbSNP gnomAD v4 |
2 | g.15945868T>A | CA345932419 | MYCN | n.515T>A c.1166T>A (p.Leu389Gln) c.533T>A (p.Leu178Gln) c.*1101T>A (n.*1101T>A) | |
2 | g.15945868T>C | CA345932420 | MYCN | n.515T>C c.1166T>C (p.Leu389Pro) c.533T>C (p.Leu178Pro) c.*1101T>C (n.*1101T>C) | |
2 | g.15945868T>G | CA345932421 | MYCN | n.515T>G c.1166T>G (p.Leu389Arg) c.533T>G (p.Leu178Arg) c.*1101T>G (n.*1101T>G) | |
2 | g.15945869G>A | CA425092628 | MYCN | n.516G>A c.1167G>A (p.Leu389=) c.534G>A (p.Leu178=) c.*1102G>A (n.*1102G>A) | |
2 | g.15945869G>C | CA425092629 | MYCN | n.516G>C c.1167G>C (p.Leu389=) c.534G>C (p.Leu178=) c.*1102G>C (n.*1102G>C) | |
2 | g.15945869G>T | CA425092630 | MYCN | n.516G>T c.1167G>T (p.Leu389=) c.534G>T (p.Leu178=) c.*1102G>T (n.*1102G>T) | |
2 | g.15945869_15945879delinsGGAGCGCCAGC | CA2491131222 | MYCN | n.516_526delinsGGAGCGCCAGC c.1167_1177delinsGGAGCGCCAGC (p.Leu389=) c.534_544delinsGGAGCGCCAGC (p.Leu178=) c.*1102_*1112delinsGGAGCGCCAGC (n.*1102_*1112delinsGGAGCGCCAGC) | |
2 | g.15945870G>A | CA345932424 | MYCN | n.517G>A c.1168G>A (p.Glu390Lys) c.535G>A (p.Glu179Lys) c.*1103G>A (n.*1103G>A) | |
2 | g.15945870G>C | CA345932423 | MYCN | n.517G>C c.1168G>C (p.Glu390Gln) c.535G>C (p.Glu179Gln) c.*1103G>C (n.*1103G>C) | |
2 | g.15945870G>T | CA345932422 | MYCN | n.517G>T c.1168G>T (p.Glu390Ter) c.535G>T (p.Glu179Ter) c.*1103G>T (n.*1103G>T) | |
2 | g.15945871_15945880del | CA658795680 | MYCN | n.518_527del c.1169_1178del (p.Glu390AlafsTer20) c.536_545del (p.Glu179AlafsTer20) c.*1104_*1113del (n.*1104_*1113del) | ClinVar dbSNP |
2 | g.15945871A>C | CA345932425 | MYCN | n.518A>C c.1169A>C (p.Glu390Ala) c.536A>C (p.Glu179Ala) c.*1104A>C (n.*1104A>C) | dbSNP |
2 | g.15945871A>G | CA345932426 | MYCN | n.518A>G c.1169A>G (p.Glu390Gly) c.536A>G (p.Glu179Gly) c.*1104A>G (n.*1104A>G) | dbSNP |
2 | g.15945871A>T | CA345932427 | MYCN | n.518A>T c.1169A>T (p.Glu390Val) c.536A>T (p.Glu179Val) c.*1104A>T (n.*1104A>T) | dbSNP |
2 | g.15945877_15945882del | CA2657954661 | MYCN | n.524_529del c.1175_1180del (p.Gln392_Arg393del) c.542_547del (p.Gln181_Arg182del) c.*1110_*1115del (n.*1110_*1115del) | gnomAD v4 |
2 | g.15945872G>A | CA425092634 | MYCN | n.519G>A c.1170G>A (p.Glu390=) c.537G>A (p.Glu179=) c.*1105G>A (n.*1105G>A) | dbSNP |
2 | g.15945872G>C | CA345932428 | MYCN | n.519G>C c.1170G>C (p.Glu390Asp) c.537G>C (p.Glu179Asp) c.*1105G>C (n.*1105G>C) | |
2 | g.15945872G= | CA2491131223 | MYCN | n.519G= c.1170G= (p.Glu390=) c.537G= (p.Glu179=) c.*1105G= (n.*1105G=) | |
2 | g.15945872G>T | CA345932429 | MYCN | n.519G>T c.1170G>T (p.Glu390Asp) c.537G>T (p.Glu179Asp) c.*1105G>T (n.*1105G>T) | |
2 | g.15945874_15945875del | CA2657954662 | MYCN | n.521_522del c.1172_1173del (p.Arg391ProfsTer24) c.539_540del (p.Arg180ProfsTer24) c.*1107_*1108del (n.*1107_*1108del) | gnomAD v4 |
2 | g.15945873C>A | CA345932430 | MYCN | n.520C>A c.1171C>A (p.Arg391Ser) c.538C>A (p.Arg180Ser) c.*1106C>A (n.*1106C>A) | ClinVar dbSNP |
2 | g.15945873C= | CA2491131224 | MYCN | n.520C= c.1171C= (p.Arg391=) c.538C= (p.Arg180=) c.*1106C= (n.*1106C=) | |
2 | g.15945873C>G | CA345932431 | MYCN | n.520C>G c.1171C>G (p.Arg391Gly) c.538C>G (p.Arg180Gly) c.*1106C>G (n.*1106C>G) | |
2 | g.15945873C>T | CA345932432 | MYCN | n.520C>T c.1171C>T (p.Arg391Cys) c.538C>T (p.Arg180Cys) c.*1106C>T (n.*1106C>T) | dbSNP gnomAD v4 |
2 | g.15945874G>A | CA345932433 | MYCN | n.521G>A c.1172G>A (p.Arg391His) c.539G>A (p.Arg180His) c.*1107G>A (n.*1107G>A) | dbSNP |
2 | g.15945874G>C | CA345932434 | MYCN | n.521G>C c.1172G>C (p.Arg391Pro) c.539G>C (p.Arg180Pro) c.*1107G>C (n.*1107G>C) | |
2 | g.15945874G>T | CA345932435 | MYCN | n.521G>T c.1172G>T (p.Arg391Leu) c.539G>T (p.Arg180Leu) c.*1107G>T (n.*1107G>T) | |
2 | g.15945875C>A | CA425092636 | MYCN | n.522C>A c.1173C>A (p.Arg391=) c.540C>A (p.Arg180=) c.*1108C>A (n.*1108C>A) | |
2 | g.15945875C= | CA2491131225 | MYCN | n.522C= c.1173C= (p.Arg391=) c.540C= (p.Arg180=) c.*1108C= (n.*1108C=) | |
2 | g.15945875C>G | CA425092638 | MYCN | n.522C>G c.1173C>G (p.Arg391=) c.540C>G (p.Arg180=) c.*1108C>G (n.*1108C>G) | gnomAD v4 |
2 | g.15945875C>T | CA1538326 | MYCN | n.522C>T c.1173C>T (p.Arg391=) c.540C>T (p.Arg180=) c.*1108C>T (n.*1108C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15945876C>A | CA345932438 | MYCN | n.523C>A c.1174C>A (p.Gln392Lys) c.541C>A (p.Gln181Lys) c.*1109C>A (n.*1109C>A) | |
2 | g.15945876C>G | CA345932437 | MYCN | n.523C>G c.1174C>G (p.Gln392Glu) c.541C>G (p.Gln181Glu) c.*1109C>G (n.*1109C>G) | |
2 | g.15945876C>T | CA345932436 | MYCN | n.523C>T c.1174C>T (p.Gln392Ter) c.541C>T (p.Gln181Ter) c.*1109C>T (n.*1109C>T) | |
2 | g.15945877A>C | CA345932439 | MYCN | n.524A>C c.1175A>C (p.Gln392Pro) c.542A>C (p.Gln181Pro) c.*1110A>C (n.*1110A>C) | |
2 | g.15945877A>G | CA345932441 | MYCN | n.524A>G c.1175A>G (p.Gln392Arg) c.542A>G (p.Gln181Arg) c.*1110A>G (n.*1110A>G) | |
2 | g.15945877A>T | CA345932440 | MYCN | n.524A>T c.1175A>T (p.Gln392Leu) c.542A>T (p.Gln181Leu) c.*1110A>T (n.*1110A>T) | dbSNP |
2 | g.15945878G>A | CA1538327 | MYCN | n.525G>A c.1176G>A (p.Gln392=) c.543G>A (p.Gln181=) c.*1111G>A (n.*1111G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15945878G>C | CA345932443 | MYCN | n.525G>C c.1176G>C (p.Gln392His) c.543G>C (p.Gln181His) c.*1111G>C (n.*1111G>C) | |
2 | g.15945878G= | CA2491131226 | MYCN | n.525G= c.1176G= (p.Gln392=) c.543G= (p.Gln181=) c.*1111G= (n.*1111G=) | |
2 | g.15945878G>T | CA345932442 | MYCN | n.525G>T c.1176G>T (p.Gln392His) c.543G>T (p.Gln181His) c.*1111G>T (n.*1111G>T) | |
2 | g.15945879C>A | CA257011 | MYCN | n.526C>A c.1177C>A (p.Arg393Ser) c.544C>A (p.Arg182Ser) c.*1112C>A (n.*1112C>A) | ClinVar dbSNP |
2 | g.15945879C= | CA2491131227 | MYCN | n.526C= c.1177C= (p.Arg393=) c.544C= (p.Arg182=) c.*1112C= (n.*1112C=) | |
2 | g.15945879C>G | CA345932444 | MYCN | n.526C>G c.1177C>G (p.Arg393Gly) c.544C>G (p.Arg182Gly) c.*1112C>G (n.*1112C>G) | |
2 | g.15945879C>T | CA345932445 | MYCN | n.526C>T c.1177C>T (p.Arg393Cys) c.544C>T (p.Arg182Cys) c.*1112C>T (n.*1112C>T) | ClinVar dbSNP |
2 | g.15945882_15945884del | CA2657954663 | MYCN | n.529_531del c.1180_1182del (p.Arg394del) c.547_549del (p.Arg183del) c.*1115_*1117del (n.*1115_*1117del) | gnomAD v4 |
2 | g.15945880G>A | CA257009 | MYCN | n.527G>A c.1178G>A (p.Arg393His) c.545G>A (p.Arg182His) c.*1113G>A (n.*1113G>A) | ClinVar dbSNP |
2 | g.15945880G>C | CA345932446 | MYCN | n.527G>C c.1178G>C (p.Arg393Pro) c.545G>C (p.Arg182Pro) c.*1113G>C (n.*1113G>C) | |
2 | g.15945880G= | CA2491131228 | MYCN | n.527G= c.1178G= (p.Arg393=) c.545G= (p.Arg182=) c.*1113G= (n.*1113G=) | |
2 | g.15945880G>T | CA345932447 | MYCN | n.527G>T c.1178G>T (p.Arg393Leu) c.545G>T (p.Arg182Leu) c.*1113G>T (n.*1113G>T) | |
2 | g.15945880_15945892dup | CA2576682129 | MYCN | n.527_539dup c.1178_1190dup (p.Arg398ProfsTer22) c.545_557dup (p.Arg187ProfsTer22) c.*1113_*1125dup (n.*1113_*1125dup) | |
2 | g.15945881C>A | CA425092641 | MYCN | n.528C>A c.1179C>A (p.Arg393=) c.546C>A (p.Arg182=) c.*1114C>A (n.*1114C>A) | |
2 | g.15945881C= | CA2491131229 | MYCN | n.528C= c.1179C= (p.Arg393=) c.546C= (p.Arg182=) c.*1114C= (n.*1114C=) | |
2 | g.15945881C>G | CA425092645 | MYCN | n.528C>G c.1179C>G (p.Arg393=) c.546C>G (p.Arg182=) c.*1114C>G (n.*1114C>G) | |
2 | g.15945881C>T | CA425092643 | MYCN | n.528C>T c.1179C>T (p.Arg393=) c.546C>T (p.Arg182=) c.*1114C>T (n.*1114C>T) | dbSNP |
2 | g.15945882C>A | CA345932448 | MYCN | n.529C>A c.1180C>A (p.Arg394Ser) c.547C>A (p.Arg183Ser) c.*1115C>A (n.*1115C>A) | |
2 | g.15945882C= | CA2491131230 | MYCN | n.529C= c.1180C= (p.Arg394=) c.547C= (p.Arg183=) c.*1115C= (n.*1115C=) | |
2 | g.15945882C>G | CA345932449 | MYCN | n.529C>G c.1180C>G (p.Arg394Gly) c.547C>G (p.Arg183Gly) c.*1115C>G (n.*1115C>G) | |
2 | g.15945882C>T | CA345932450 | MYCN | n.529C>T c.1180C>T (p.Arg394Cys) c.547C>T (p.Arg183Cys) c.*1115C>T (n.*1115C>T) | ClinVar dbSNP |
2 | g.15945883G>A | CA257013 | MYCN | n.530G>A c.1181G>A (p.Arg394His) c.548G>A (p.Arg183His) c.*1116G>A (n.*1116G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.15945883G>C | CA345932451 | MYCN | n.530G>C c.1181G>C (p.Arg394Pro) c.548G>C (p.Arg183Pro) c.*1116G>C (n.*1116G>C) | dbSNP |
2 | g.15945883G= | CA2491131231 | MYCN | n.530G= c.1181G= (p.Arg394=) c.548G= (p.Arg183=) c.*1116G= (n.*1116G=) | |
2 | g.15945883G>T | CA345932452 | MYCN | n.530G>T c.1181G>T (p.Arg394Leu) c.548G>T (p.Arg183Leu) c.*1116G>T (n.*1116G>T) | ClinVar dbSNP |
2 | g.15945884C>A | CA425092646 | MYCN | n.531C>A c.1182C>A (p.Arg394=) c.549C>A (p.Arg183=) c.*1117C>A (n.*1117C>A) | |
2 | g.15945884C= | CA2491131232 | MYCN | n.531C= c.1182C= (p.Arg394=) c.549C= (p.Arg183=) c.*1117C= (n.*1117C=) | |
2 | g.15945884C>G | CA425092647 | MYCN | n.531C>G c.1182C>G (p.Arg394=) c.549C>G (p.Arg183=) c.*1117C>G (n.*1117C>G) | |
2 | g.15945884C>T | CA425092648 | MYCN | n.531C>T c.1182C>T (p.Arg394=) c.549C>T (p.Arg183=) c.*1117C>T (n.*1117C>T) | dbSNP |
2 | g.15945886_15945909dup | CA2657954664 | MYCN | n.533_556dup c.1184_1207dup (p.Leu402_Thr403insAsnAspLeuArgSerSerPheLeu) c.551_574dup (p.Leu191_Thr192insAsnAspLeuArgSerSerPheLeu) c.*1119_*1142dup (n.*1119_*1142dup) | gnomAD v4 |
2 | g.15945885A>C | CA345932453 | MYCN | n.532A>C c.1183A>C (p.Asn395His) c.550A>C (p.Asn184His) c.*1118A>C (n.*1118A>C) | |
2 | g.15945885A>G | CA345932455 | MYCN | n.532A>G c.1183A>G (p.Asn395Asp) c.550A>G (p.Asn184Asp) c.*1118A>G (n.*1118A>G) | |
2 | g.15945885A>T | CA345932454 | MYCN | n.532A>T c.1183A>T (p.Asn395Tyr) c.550A>T (p.Asn184Tyr) c.*1118A>T (n.*1118A>T) | |
2 | g.15945886A= | CA2491131233 | MYCN | n.533A= c.1184A= (p.Asn395=) c.551A= (p.Asn184=) c.*1119A= (n.*1119A=) | |
2 | g.15945886A>C | CA345932456 | MYCN | n.533A>C c.1184A>C (p.Asn395Thr) c.551A>C (p.Asn184Thr) c.*1119A>C (n.*1119A>C) | dbSNP |
2 | g.15945886A>G | CA1538328 | MYCN | n.533A>G c.1184A>G (p.Asn395Ser) c.551A>G (p.Asn184Ser) c.*1119A>G (n.*1119A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945886A>T | CA345932457 | MYCN | n.533A>T c.1184A>T (p.Asn395Ile) c.551A>T (p.Asn184Ile) c.*1119A>T (n.*1119A>T) | |
2 | g.15945887C>A | CA345932458 | MYCN | n.534C>A c.1185C>A (p.Asn395Lys) c.552C>A (p.Asn184Lys) c.*1120C>A (n.*1120C>A) | |
2 | g.15945887C= | CA2491131234 | MYCN | n.534C= c.1185C= (p.Asn395=) c.552C= (p.Asn184=) c.*1120C= (n.*1120C=) | |
2 | g.15945887C>G | CA345932459 | MYCN | n.534C>G c.1185C>G (p.Asn395Lys) c.552C>G (p.Asn184Lys) c.*1120C>G (n.*1120C>G) | |
2 | g.15945887C>T | CA1538329 | MYCN | n.534C>T c.1185C>T (p.Asn395=) c.552C>T (p.Asn184=) c.*1120C>T (n.*1120C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945888G>A | CA345932460 | MYCN | n.535G>A c.1186G>A (p.Asp396Asn) c.553G>A (p.Asp185Asn) c.*1121G>A (n.*1121G>A) | dbSNP COSMIC |
2 | g.15945888G>C | CA345932461 | MYCN | n.535G>C c.1186G>C (p.Asp396His) c.553G>C (p.Asp185His) c.*1121G>C (n.*1121G>C) | COSMIC |
2 | g.15945888G>T | CA345932462 | MYCN | n.535G>T c.1186G>T (p.Asp396Tyr) c.553G>T (p.Asp185Tyr) c.*1121G>T (n.*1121G>T) | ClinVar dbSNP COSMIC |
2 | g.15945889A>C | CA345932464 | MYCN | n.536A>C c.1187A>C (p.Asp396Ala) c.554A>C (p.Asp185Ala) c.*1122A>C (n.*1122A>C) | |
2 | g.15945889A>G | CA345932465 | MYCN | n.536A>G c.1187A>G (p.Asp396Gly) c.554A>G (p.Asp185Gly) c.*1122A>G (n.*1122A>G) | |
2 | g.15945889A>T | CA345932463 | MYCN | n.536A>T c.1187A>T (p.Asp396Val) c.554A>T (p.Asp185Val) c.*1122A>T (n.*1122A>T) | dbSNP |
2 | g.15945890C>A | CA345932466 | MYCN | n.537C>A c.1188C>A (p.Asp396Glu) c.555C>A (p.Asp185Glu) c.*1123C>A (n.*1123C>A) | |
2 | g.15945890C>G | CA345932467 | MYCN | n.537C>G c.1188C>G (p.Asp396Glu) c.555C>G (p.Asp185Glu) c.*1123C>G (n.*1123C>G) | |
2 | g.15945890C>T | CA425092653 | MYCN | n.537C>T c.1188C>T (p.Asp396=) c.555C>T (p.Asp185=) c.*1123C>T (n.*1123C>T) | |
2 | g.15945891C>A | CA345932468 | MYCN | n.538C>A c.1189C>A (p.Leu397Ile) c.556C>A (p.Leu186Ile) c.*1124C>A (n.*1124C>A) | dbSNP gnomAD v2 |
2 | g.15945891C= | CA2491131235 | MYCN | n.538C= c.1189C= (p.Leu397=) c.556C= (p.Leu186=) c.*1124C= (n.*1124C=) | |
2 | g.15945891C>G | CA345932469 | MYCN | n.538C>G c.1189C>G (p.Leu397Val) c.556C>G (p.Leu186Val) c.*1124C>G (n.*1124C>G) | |
2 | g.15945891C>T | CA345932470 | MYCN | n.538C>T c.1189C>T (p.Leu397Phe) c.556C>T (p.Leu186Phe) c.*1124C>T (n.*1124C>T) | |
2 | g.15945892T>A | CA345932473 | MYCN | n.539T>A c.1190T>A (p.Leu397His) c.557T>A (p.Leu186His) c.*1125T>A (n.*1125T>A) | |
2 | g.15945892T>C | CA345932472 | MYCN | n.539T>C c.1190T>C (p.Leu397Pro) c.557T>C (p.Leu186Pro) c.*1125T>C (n.*1125T>C) | ClinVar dbSNP |
2 | g.15945892T>G | CA345932471 | MYCN | n.539T>G c.1190T>G (p.Leu397Arg) c.557T>G (p.Leu186Arg) c.*1125T>G (n.*1125T>G) | |
2 | g.15945892T= | CA2491131236 | MYCN | n.539T= c.1190T= (p.Leu397=) c.557T= (p.Leu186=) c.*1125T= (n.*1125T=) | |
2 | g.15945893T>A | CA425092656 | MYCN | n.540T>A c.1191T>A (p.Leu397=) c.558T>A (p.Leu186=) c.*1126T>A (n.*1126T>A) | |
2 | g.15945893T>C | CA1538330 | MYCN | n.540T>C c.1191T>C (p.Leu397=) c.558T>C (p.Leu186=) c.*1126T>C (n.*1126T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15945893T>G | CA425092658 | MYCN | n.540T>G c.1191T>G (p.Leu397=) c.558T>G (p.Leu186=) c.*1126T>G (n.*1126T>G) | |
2 | g.15945893T= | CA2491131237 | MYCN | n.540T= c.1191T= (p.Leu397=) c.558T= (p.Leu186=) c.*1126T= (n.*1126T=) | |
2 | g.15945894C>A | CA425092659 | MYCN | n.541C>A c.1192C>A (p.Arg398=) c.559C>A (p.Arg187=) c.*1127C>A (n.*1127C>A) | |
2 | g.15945894C= | CA2491131238 | MYCN | n.541C= c.1192C= (p.Arg398=) c.559C= (p.Arg187=) c.*1127C= (n.*1127C=) | |
2 | g.15945894C>G | CA345932474 | MYCN | n.541C>G c.1192C>G (p.Arg398Gly) c.559C>G (p.Arg187Gly) c.*1127C>G (n.*1127C>G) | |
2 | g.15945894C>T | CA16042420 | MYCN | n.541C>T c.1192C>T (p.Arg398Trp) c.559C>T (p.Arg187Trp) c.*1127C>T (n.*1127C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.15945895G>A | CA345932475 | MYCN | n.542G>A c.1193G>A (p.Arg398Gln) c.560G>A (p.Arg187Gln) c.*1128G>A (n.*1128G>A) | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.15945895G>C | CA345932476 | MYCN | n.542G>C c.1193G>C (p.Arg398Pro) c.560G>C (p.Arg187Pro) c.*1128G>C (n.*1128G>C) | |
2 | g.15945895G>T | CA345932477 | MYCN | n.542G>T c.1193G>T (p.Arg398Leu) c.560G>T (p.Arg187Leu) c.*1128G>T (n.*1128G>T) | dbSNP COSMIC |
2 | g.15945896G>A | CA425092661 | MYCN | n.543G>A c.1194G>A (p.Arg398=) c.561G>A (p.Arg187=) c.*1129G>A (n.*1129G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15945896G>C | CA425092662 | MYCN | n.543G>C c.1194G>C (p.Arg398=) c.561G>C (p.Arg187=) c.*1129G>C (n.*1129G>C) | dbSNP |
2 | g.15945896G= | CA2491131239 | MYCN | n.543G= c.1194G= (p.Arg398=) c.561G= (p.Arg187=) c.*1129G= (n.*1129G=) | |
2 | g.15945896G>T | CA425092663 | MYCN | n.543G>T c.1194G>T (p.Arg398=) c.561G>T (p.Arg187=) c.*1129G>T (n.*1129G>T) | gnomAD v4 |
2 | g.15945897T>A | CA345932478 | MYCN | n.544T>A c.1195T>A (p.Ser399Thr) c.562T>A (p.Ser188Thr) c.*1130T>A (n.*1130T>A) | |
2 | g.15945897T>C | CA345932480 | MYCN | n.544T>C c.1195T>C (p.Ser399Pro) c.562T>C (p.Ser188Pro) c.*1130T>C (n.*1130T>C) | |
2 | g.15945897T>G | CA345932479 | MYCN | n.544T>G c.1195T>G (p.Ser399Ala) c.562T>G (p.Ser188Ala) c.*1130T>G (n.*1130T>G) | gnomAD v4 |
2 | g.15945898C>A | CA345932481 | MYCN | n.545C>A c.1196C>A (p.Ser399Tyr) c.563C>A (p.Ser188Tyr) c.*1131C>A (n.*1131C>A) | gnomAD v4 |
2 | g.15945898C= | CA2491131240 | MYCN | n.545C= c.1196C= (p.Ser399=) c.563C= (p.Ser188=) c.*1131C= (n.*1131C=) | |
2 | g.15945898C>G | CA345932482 | MYCN | n.545C>G c.1196C>G (p.Ser399Cys) c.563C>G (p.Ser188Cys) c.*1131C>G (n.*1131C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15945898C>T | CA16604002 | MYCN | n.545C>T c.1196C>T (p.Ser399Phe) c.563C>T (p.Ser188Phe) c.*1131C>T (n.*1131C>T) | ClinVar dbSNP |
2 | g.15945899C>A | CA425092666 | MYCN | n.546C>A c.1197C>A (p.Ser399=) c.564C>A (p.Ser188=) c.*1132C>A (n.*1132C>A) | |
2 | g.15945899C>G | CA425092667 | MYCN | n.546C>G c.1197C>G (p.Ser399=) c.564C>G (p.Ser188=) c.*1132C>G (n.*1132C>G) | |
2 | g.15945899C>T | CA425092668 | MYCN | n.546C>T c.1197C>T (p.Ser399=) c.564C>T (p.Ser188=) c.*1132C>T (n.*1132C>T) | |
2 | g.15945900A= | CA2491131241 | MYCN | n.547A= c.1198A= (p.Ser400=) c.565A= (p.Ser189=) c.*1133A= (n.*1133A=) | |
2 | g.15945900A>C | CA345932483 | MYCN | n.547A>C c.1198A>C (p.Ser400Arg) c.565A>C (p.Ser189Arg) c.*1133A>C (n.*1133A>C) | ClinVar |
2 | g.15945900A>G | CA345932484 | MYCN | n.547A>G c.1198A>G (p.Ser400Gly) c.565A>G (p.Ser189Gly) c.*1133A>G (n.*1133A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15945900A>T | CA345932485 | MYCN | n.547A>T c.1198A>T (p.Ser400Cys) c.565A>T (p.Ser189Cys) c.*1133A>T (n.*1133A>T) | |
2 | g.15945901G>A | CA345932486 | MYCN | n.548G>A c.1199G>A (p.Ser400Asn) c.566G>A (p.Ser189Asn) c.*1134G>A (n.*1134G>A) | dbSNP |
2 | g.15945901G>C | CA345932487 | MYCN | n.548G>C c.1199G>C (p.Ser400Thr) c.566G>C (p.Ser189Thr) c.*1134G>C (n.*1134G>C) | dbSNP |
2 | g.15945901G>T | CA345932488 | MYCN | n.548G>T c.1199G>T (p.Ser400Ile) c.566G>T (p.Ser189Ile) c.*1134G>T (n.*1134G>T) | |
2 | g.15945902C>A | CA345932489 | MYCN | n.549C>A c.1200C>A (p.Ser400Arg) c.567C>A (p.Ser189Arg) c.*1135C>A (n.*1135C>A) | |
2 | g.15945902C= | CA2491131242 | MYCN | n.549C= c.1200C= (p.Ser400=) c.567C= (p.Ser189=) c.*1135C= (n.*1135C=) | |
2 | g.15945902C>G | CA345932490 | MYCN | n.549C>G c.1200C>G (p.Ser400Arg) c.567C>G (p.Ser189Arg) c.*1135C>G (n.*1135C>G) | |
2 | g.15945902C>T | CA425092669 | MYCN | n.549C>T c.1200C>T (p.Ser400=) c.567C>T (p.Ser189=) c.*1135C>T (n.*1135C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15945903T>A | CA345932493 | MYCN | n.550T>A c.1201T>A (p.Phe401Ile) c.568T>A (p.Phe190Ile) c.*1136T>A (n.*1136T>A) | COSMIC |
2 | g.15945903T>C | CA345932492 | MYCN | n.550T>C c.1201T>C (p.Phe401Leu) c.568T>C (p.Phe190Leu) c.*1136T>C (n.*1136T>C) | |
2 | g.15945903T>G | CA345932491 | MYCN | n.550T>G c.1201T>G (p.Phe401Val) c.568T>G (p.Phe190Val) c.*1136T>G (n.*1136T>G) | |
2 | g.15945904T>A | CA345932494 | MYCN | n.551T>A c.1202T>A (p.Phe401Tyr) c.569T>A (p.Phe190Tyr) c.*1137T>A (n.*1137T>A) | |
2 | g.15945904T>C | CA345932495 | MYCN | n.551T>C c.1202T>C (p.Phe401Ser) c.569T>C (p.Phe190Ser) c.*1137T>C (n.*1137T>C) | gnomAD v4 |
2 | g.15945904T>G | CA345932496 | MYCN | n.551T>G c.1202T>G (p.Phe401Cys) c.569T>G (p.Phe190Cys) c.*1137T>G (n.*1137T>G) | |
2 | g.15945905T>A | CA345932497 | MYCN | n.552T>A c.1203T>A (p.Phe401Leu) c.570T>A (p.Phe190Leu) c.*1138T>A (n.*1138T>A) | |
2 | g.15945905T>C | CA425092671 | MYCN | n.552T>C c.1203T>C (p.Phe401=) c.570T>C (p.Phe190=) c.*1138T>C (n.*1138T>C) | |
2 | g.15945905T>G | CA345932498 | MYCN | n.552T>G c.1203T>G (p.Phe401Leu) c.570T>G (p.Phe190Leu) c.*1138T>G (n.*1138T>G) | |
2 | g.15945906C>A | CA345932501 | MYCN | n.553C>A c.1204C>A (p.Leu402Ile) c.571C>A (p.Leu191Ile) c.*1139C>A (n.*1139C>A) | |
2 | g.15945906C>G | CA345932500 | MYCN | n.553C>G c.1204C>G (p.Leu402Val) c.571C>G (p.Leu191Val) c.*1139C>G (n.*1139C>G) | |
2 | g.15945906C>T | CA345932499 | MYCN | n.553C>T c.1204C>T (p.Leu402Phe) c.571C>T (p.Leu191Phe) c.*1139C>T (n.*1139C>T) | dbSNP COSMIC |
2 | g.15945907T>A | CA345932502 | MYCN | n.554T>A c.1205T>A (p.Leu402His) c.572T>A (p.Leu191His) c.*1140T>A (n.*1140T>A) | |
2 | g.15945907T>C | CA345932503 | MYCN | n.554T>C c.1205T>C (p.Leu402Pro) c.572T>C (p.Leu191Pro) c.*1140T>C (n.*1140T>C) | |
2 | g.15945907T>G | CA345932504 | MYCN | n.554T>G c.1205T>G (p.Leu402Arg) c.572T>G (p.Leu191Arg) c.*1140T>G (n.*1140T>G) | |
2 | g.15945908C>A | CA425092676 | MYCN | n.555C>A c.1206C>A (p.Leu402=) c.573C>A (p.Leu191=) c.*1141C>A (n.*1141C>A) | |
2 | g.15945908C= | CA2491131243 | MYCN | n.555C= c.1206C= (p.Leu402=) c.573C= (p.Leu191=) c.*1141C= (n.*1141C=) | |
2 | g.15945908C>G | CA425092674 | MYCN | n.555C>G c.1206C>G (p.Leu402=) c.573C>G (p.Leu191=) c.*1141C>G (n.*1141C>G) | |
2 | g.15945908C>T | CA425092672 | MYCN | n.555C>T c.1206C>T (p.Leu402=) c.573C>T (p.Leu191=) c.*1141C>T (n.*1141C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.15945909del | CA2586968724 | MYCN | n.556del c.1207del (p.Thr403ArgfsTer10) c.574del (p.Thr192ArgfsTer10) c.*1142del (n.*1142del) | |
2 | g.15945909A= | CA2491131244 | MYCN | n.556A= c.1207A= (p.Thr403=) c.574A= (p.Thr192=) c.*1142A= (n.*1142A=) | |
2 | g.15945909A>C | CA345932505 | MYCN | n.556A>C c.1207A>C (p.Thr403Pro) c.574A>C (p.Thr192Pro) c.*1142A>C (n.*1142A>C) | gnomAD v4 |
2 | g.15945909A>G | CA345932506 | MYCN | n.556A>G c.1207A>G (p.Thr403Ala) c.574A>G (p.Thr192Ala) c.*1142A>G (n.*1142A>G) | dbSNP |
2 | g.15945909A>T | CA345932507 | MYCN | n.556A>T c.1207A>T (p.Thr403Ser) c.574A>T (p.Thr192Ser) c.*1142A>T (n.*1142A>T) | |
2 | g.15945909dup | CA658657010 | MYCN | n.556dup c.1207dup (p.Thr403AsnfsTer13) c.574dup (p.Thr192AsnfsTer13) c.*1142dup (n.*1142dup) | ClinVar dbSNP |
2 | g.15945910C>A | CA345932509 | MYCN | n.557C>A c.1208C>A (p.Thr403Lys) c.575C>A (p.Thr192Lys) c.*1143C>A (n.*1143C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15945910C= | CA2491131245 | MYCN | n.557C= c.1208C= (p.Thr403=) c.575C= (p.Thr192=) c.*1143C= (n.*1143C=) | |
2 | g.15945910C>G | CA345932508 | MYCN | n.557C>G c.1208C>G (p.Thr403Arg) c.575C>G (p.Thr192Arg) c.*1143C>G (n.*1143C>G) | gnomAD v4 |
2 | g.15945910C>T | CA1538331 | MYCN | n.557C>T c.1208C>T (p.Thr403Met) c.575C>T (p.Thr192Met) c.*1143C>T (n.*1143C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945911G>A | CA425092679 | MYCN | n.558G>A c.1209G>A (p.Thr403=) c.576G>A (p.Thr192=) c.*1144G>A (n.*1144G>A) | dbSNP gnomAD v4 |
2 | g.15945911G>C | CA43192494 | MYCN | n.558G>C c.1209G>C (p.Thr403=) c.576G>C (p.Thr192=) c.*1144G>C (n.*1144G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945911G= | CA2491131246 | MYCN | n.558G= c.1209G= (p.Thr403=) c.576G= (p.Thr192=) c.*1144G= (n.*1144G=) | |
2 | g.15945911G>T | CA425092681 | MYCN | n.558G>T c.1209G>T (p.Thr403=) c.576G>T (p.Thr192=) c.*1144G>T (n.*1144G>T) | gnomAD v4 |
2 | g.15945912C>A | CA345932510 | MYCN | n.559C>A c.1210C>A (p.Leu404Ile) c.577C>A (p.Leu193Ile) c.*1145C>A (n.*1145C>A) | dbSNP |
2 | g.15945912C>G | CA345932511 | MYCN | n.559C>G c.1210C>G (p.Leu404Val) c.577C>G (p.Leu193Val) c.*1145C>G (n.*1145C>G) | |
2 | g.15945912C>T | CA345932512 | MYCN | n.559C>T c.1210C>T (p.Leu404Phe) c.577C>T (p.Leu193Phe) c.*1145C>T (n.*1145C>T) | |
2 | g.15945913T>A | CA345932513 | MYCN | n.560T>A c.1211T>A (p.Leu404His) c.578T>A (p.Leu193His) c.*1146T>A (n.*1146T>A) | |
2 | g.15945913T>C | CA345932514 | MYCN | n.560T>C c.1211T>C (p.Leu404Pro) c.578T>C (p.Leu193Pro) c.*1146T>C (n.*1146T>C) | dbSNP |
2 | g.15945913T>G | CA345932515 | MYCN | n.560T>G c.1211T>G (p.Leu404Arg) c.578T>G (p.Leu193Arg) c.*1146T>G (n.*1146T>G) | ClinVar dbSNP |
2 | g.15945914C>A | CA425092683 | MYCN | n.561C>A c.1212C>A (p.Leu404=) c.579C>A (p.Leu193=) c.*1147C>A (n.*1147C>A) | dbSNP |
2 | g.15945914C>G | CA425092684 | MYCN | n.561C>G c.1212C>G (p.Leu404=) c.579C>G (p.Leu193=) c.*1147C>G (n.*1147C>G) | |
2 | g.15945914C>T | CA425092685 | MYCN | n.561C>T c.1212C>T (p.Leu404=) c.579C>T (p.Leu193=) c.*1147C>T (n.*1147C>T) | gnomAD v4 |
2 | g.15945915A>C | CA425092686 | MYCN | n.562A>C c.1213A>C (p.Arg405=) c.580A>C (p.Arg194=) c.*1148A>C (n.*1148A>C) | |
2 | g.15945915A>G | CA345932516 | MYCN | n.562A>G c.1213A>G (p.Arg405Gly) c.580A>G (p.Arg194Gly) c.*1148A>G (n.*1148A>G) | |
2 | g.15945915A>T | CA345932517 | MYCN | n.562A>T c.1213A>T (p.Arg405Trp) c.580A>T (p.Arg194Trp) c.*1148A>T (n.*1148A>T) | |
2 | g.15945916G>A | CA345932518 | MYCN | n.563G>A c.1214G>A (p.Arg405Lys) c.581G>A (p.Arg194Lys) c.*1149G>A (n.*1149G>A) | gnomAD v4 |
2 | g.15945916G>C | CA345932519 | MYCN | n.563G>C c.1214G>C (p.Arg405Thr) c.581G>C (p.Arg194Thr) c.*1149G>C (n.*1149G>C) | |
2 | g.15945916G>T | CA345932520 | MYCN | n.563G>T c.1214G>T (p.Arg405Met) c.581G>T (p.Arg194Met) c.*1149G>T (n.*1149G>T) | |
2 | g.15945917G>A | CA425092688 | MYCN | n.564G>A c.1215G>A (p.Arg405=) c.582G>A (p.Arg194=) c.*1150G>A (n.*1150G>A) | dbSNP gnomAD v4 |
2 | g.15945917G>C | CA345932521 | MYCN | n.564G>C c.1215G>C (p.Arg405Ser) c.582G>C (p.Arg194Ser) c.*1150G>C (n.*1150G>C) | |
2 | g.15945917G>T | CA345932522 | MYCN | n.564G>T c.1215G>T (p.Arg405Ser) c.582G>T (p.Arg194Ser) c.*1150G>T (n.*1150G>T) | |
2 | g.15945918G>A | CA345932523 | MYCN | n.565G>A c.1216G>A (p.Asp406Asn) c.583G>A (p.Asp195Asn) c.*1151G>A (n.*1151G>A) | |
2 | g.15945918G>C | CA43192495 | MYCN | n.565G>C c.1216G>C (p.Asp406His) c.583G>C (p.Asp195His) c.*1151G>C (n.*1151G>C) | dbSNP gnomAD v4 |
2 | g.15945918G= | CA2491131247 | MYCN | n.565G= c.1216G= (p.Asp406=) c.583G= (p.Asp195=) c.*1151G= (n.*1151G=) | |
2 | g.15945918G>T | CA345932524 | MYCN | n.565G>T c.1216G>T (p.Asp406Tyr) c.583G>T (p.Asp195Tyr) c.*1151G>T (n.*1151G>T) | |
2 | g.15945919A>C | CA345932525 | MYCN | n.566A>C c.1217A>C (p.Asp406Ala) c.584A>C (p.Asp195Ala) c.*1152A>C (n.*1152A>C) | |
2 | g.15945919A>G | CA345932526 | MYCN | n.566A>G c.1217A>G (p.Asp406Gly) c.584A>G (p.Asp195Gly) c.*1152A>G (n.*1152A>G) | |
2 | g.15945919A>T | CA345932527 | MYCN | n.566A>T c.1217A>T (p.Asp406Val) c.584A>T (p.Asp195Val) c.*1152A>T (n.*1152A>T) | |
2 | g.15945920C>A | CA345932528 | MYCN | n.567C>A c.1218C>A (p.Asp406Glu) c.585C>A (p.Asp195Glu) c.*1153C>A (n.*1153C>A) | |
2 | g.15945920C>G | CA345932529 | MYCN | n.567C>G c.1218C>G (p.Asp406Glu) c.585C>G (p.Asp195Glu) c.*1153C>G (n.*1153C>G) | dbSNP |
2 | g.15945920C>T | CA425092693 | MYCN | n.567C>T c.1218C>T (p.Asp406=) c.585C>T (p.Asp195=) c.*1153C>T (n.*1153C>T) | gnomAD v4 |
2 | g.15945921del | CA2698672352 | MYCN | n.568del c.1219del (p.His407ThrfsTer6) c.586del (p.His196ThrfsTer6) c.*1154del (n.*1154del) | dbSNP |
2 | g.15945921C>A | CA345932530 | MYCN | n.568C>A c.1219C>A (p.His407Asn) c.586C>A (p.His196Asn) c.*1154C>A (n.*1154C>A) | |
2 | g.15945921C>G | CA345932531 | MYCN | n.568C>G c.1219C>G (p.His407Asp) c.586C>G (p.His196Asp) c.*1154C>G (n.*1154C>G) | dbSNP |
2 | g.15945921C>T | CA345932532 | MYCN | n.568C>T c.1219C>T (p.His407Tyr) c.586C>T (p.His196Tyr) c.*1154C>T (n.*1154C>T) | |
2 | g.15945922A>C | CA345932533 | MYCN | n.569A>C c.1220A>C (p.His407Pro) c.587A>C (p.His196Pro) c.*1155A>C (n.*1155A>C) | dbSNP |
2 | g.15945922A>G | CA345932534 | MYCN | n.569A>G c.1220A>G (p.His407Arg) c.587A>G (p.His196Arg) c.*1155A>G (n.*1155A>G) | gnomAD v4 |
2 | g.15945922A>T | CA345932535 | MYCN | n.569A>T c.1220A>T (p.His407Leu) c.587A>T (p.His196Leu) c.*1155A>T (n.*1155A>T) | |
2 | g.15945923C>A | CA345932537 | MYCN | n.570C>A c.1221C>A (p.His407Gln) c.588C>A (p.His196Gln) c.*1156C>A (n.*1156C>A) | gnomAD v4 |
2 | g.15945923C= | CA2491131248 | MYCN | n.570C= c.1221C= (p.His407=) c.588C= (p.His196=) c.*1156C= (n.*1156C=) | |
2 | g.15945923C>G | CA345932536 | MYCN | n.570C>G c.1221C>G (p.His407Gln) c.588C>G (p.His196Gln) c.*1156C>G (n.*1156C>G) | |
2 | g.15945923C>T | CA1538332 | MYCN | n.570C>T c.1221C>T (p.His407=) c.588C>T (p.His196=) c.*1156C>T (n.*1156C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945924G>A | CA345932538 | MYCN | n.571G>A c.1222G>A (p.Val408Met) c.589G>A (p.Val197Met) c.*1157G>A (n.*1157G>A) | dbSNP gnomAD v4 |
2 | g.15945924G>C | CA345932539 | MYCN | n.571G>C c.1222G>C (p.Val408Leu) c.589G>C (p.Val197Leu) c.*1157G>C (n.*1157G>C) | |
2 | g.15945924G>T | CA345932540 | MYCN | n.571G>T c.1222G>T (p.Val408Leu) c.589G>T (p.Val197Leu) c.*1157G>T (n.*1157G>T) | |
2 | g.15945925T>A | CA345932541 | MYCN | n.572T>A c.1223T>A (p.Val408Glu) c.590T>A (p.Val197Glu) c.*1158T>A (n.*1158T>A) | |
2 | g.15945925T>C | CA345932542 | MYCN | n.572T>C c.1223T>C (p.Val408Ala) c.590T>C (p.Val197Ala) c.*1158T>C (n.*1158T>C) | |
2 | g.15945925T>G | CA345932543 | MYCN | n.572T>G c.1223T>G (p.Val408Gly) c.590T>G (p.Val197Gly) c.*1158T>G (n.*1158T>G) | |
2 | g.15945926G>A | CA425092697 | MYCN | n.573G>A c.1224G>A (p.Val408=) c.591G>A (p.Val197=) c.*1159G>A (n.*1159G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15945926G>C | CA425092698 | MYCN | n.573G>C c.1224G>C (p.Val408=) c.591G>C (p.Val197=) c.*1159G>C (n.*1159G>C) | |
2 | g.15945926G= | CA2491131249 | MYCN | n.573G= c.1224G= (p.Val408=) c.591G= (p.Val197=) c.*1159G= (n.*1159G=) | |
2 | g.15945926G>T | CA425092699 | MYCN | n.573G>T c.1224G>T (p.Val408=) c.591G>T (p.Val197=) c.*1159G>T (n.*1159G>T) | |
2 | g.15945927C>A | CA345932544 | MYCN | n.574C>A c.1225C>A (p.Pro409Thr) c.592C>A (p.Pro198Thr) c.*1160C>A (n.*1160C>A) | dbSNP |
2 | g.15945927C>G | CA345932545 | MYCN | n.574C>G c.1225C>G (p.Pro409Ala) c.592C>G (p.Pro198Ala) c.*1160C>G (n.*1160C>G) | dbSNP |
2 | g.15945927C>T | CA345932546 | MYCN | n.574C>T c.1225C>T (p.Pro409Ser) c.592C>T (p.Pro198Ser) c.*1160C>T (n.*1160C>T) | |
2 | g.15945928C>A | CA345932547 | MYCN | n.575C>A c.1226C>A (p.Pro409Gln) c.593C>A (p.Pro198Gln) c.*1161C>A (n.*1161C>A) | dbSNP |
2 | g.15945928C= | CA2491131250 | MYCN | n.575C= c.1226C= (p.Pro409=) c.593C= (p.Pro198=) c.*1161C= (n.*1161C=) | |
2 | g.15945928C>G | CA345932548 | MYCN | n.575C>G c.1226C>G (p.Pro409Arg) c.593C>G (p.Pro198Arg) c.*1161C>G (n.*1161C>G) | dbSNP |
2 | g.15945928C>T | CA345932549 | MYCN | n.575C>T c.1226C>T (p.Pro409Leu) c.593C>T (p.Pro198Leu) c.*1161C>T (n.*1161C>T) | ClinVar dbSNP |
2 | g.15945929G>A | CA43192496 | MYCN | n.576G>A c.1227G>A (p.Pro409=) c.594G>A (p.Pro198=) c.*1162G>A (n.*1162G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15945929G>C | CA425092700 | MYCN | n.576G>C c.1227G>C (p.Pro409=) c.594G>C (p.Pro198=) c.*1162G>C (n.*1162G>C) | |
2 | g.15945929G= | CA2491131251 | MYCN | n.576G= c.1227G= (p.Pro409=) c.594G= (p.Pro198=) c.*1162G= (n.*1162G=) | |
2 | g.15945929G>T | CA425092701 | MYCN | n.576G>T c.1227G>T (p.Pro409=) c.594G>T (p.Pro198=) c.*1162G>T (n.*1162G>T) | |
2 | g.15945930G>A | CA345932552 | MYCN | n.577G>A c.1228G>A (p.Glu410Lys) c.595G>A (p.Glu199Lys) c.*1163G>A (n.*1163G>A) | |
2 | g.15945930G>C | CA345932551 | MYCN | n.577G>C c.1228G>C (p.Glu410Gln) c.595G>C (p.Glu199Gln) c.*1163G>C (n.*1163G>C) | |
2 | g.15945930G>T | CA345932550 | MYCN | n.577G>T c.1228G>T (p.Glu410Ter) c.595G>T (p.Glu199Ter) c.*1163G>T (n.*1163G>T) | |
2 | g.15945931A= | CA2491131252 | MYCN | n.578A= c.1229A= (p.Glu410=) c.596A= (p.Glu199=) c.*1164A= (n.*1164A=) | |
2 | g.15945931A>C | CA345932553 | MYCN | n.578A>C c.1229A>C (p.Glu410Ala) c.596A>C (p.Glu199Ala) c.*1164A>C (n.*1164A>C) | |
2 | g.15945931A>G | CA345932555 | MYCN | n.578A>G c.1229A>G (p.Glu410Gly) c.596A>G (p.Glu199Gly) c.*1164A>G (n.*1164A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15945931A>T | CA345932554 | MYCN | n.578A>T c.1229A>T (p.Glu410Val) c.596A>T (p.Glu199Val) c.*1164A>T (n.*1164A>T) | |
2 | g.15945932G>A | CA425092703 | MYCN | n.579G>A c.1230G>A (p.Glu410=) c.597G>A (p.Glu199=) c.*1165G>A (n.*1165G>A) | |
2 | g.15945932G>C | CA345932556 | MYCN | n.579G>C c.1230G>C (p.Glu410Asp) c.597G>C (p.Glu199Asp) c.*1165G>C (n.*1165G>C) | dbSNP |
2 | g.15945932G= | CA2491131253 | MYCN | n.579G= c.1230G= (p.Glu410=) c.597G= (p.Glu199=) c.*1165G= (n.*1165G=) | |
2 | g.15945932G>T | CA345932557 | MYCN | n.579G>T c.1230G>T (p.Glu410Asp) c.597G>T (p.Glu199Asp) c.*1165G>T (n.*1165G>T) | |
2 | g.15945933T>A | CA345932558 | MYCN | n.580T>A c.1231T>A (p.Leu411Met) c.598T>A (p.Leu200Met) c.*1166T>A (n.*1166T>A) | |
2 | g.15945933T>C | CA425092705 | MYCN | n.580T>C c.1231T>C (p.Leu411=) c.598T>C (p.Leu200=) c.*1166T>C (n.*1166T>C) | dbSNP |
2 | g.15945933T>G | CA345932559 | MYCN | n.580T>G c.1231T>G (p.Leu411Val) c.598T>G (p.Leu200Val) c.*1166T>G (n.*1166T>G) | |
2 | g.15945934T>A | CA345932560 | MYCN | n.581T>A c.1232T>A (p.Leu411Ter) c.599T>A (p.Leu200Ter) c.*1167T>A (n.*1167T>A) | |
2 | g.15945934T>C | CA345932562 | MYCN | n.581T>C c.1232T>C (p.Leu411Ser) c.599T>C (p.Leu200Ser) c.*1167T>C (n.*1167T>C) | |
2 | g.15945934T>G | CA345932561 | MYCN | n.581T>G c.1232T>G (p.Leu411Trp) c.599T>G (p.Leu200Trp) c.*1167T>G (n.*1167T>G) | |
2 | g.15945935G>A | CA425092706 | MYCN | n.582G>A c.1233G>A (p.Leu411=) c.600G>A (p.Leu200=) c.*1168G>A (n.*1168G>A) | dbSNP |
2 | g.15945935G>C | CA345932563 | MYCN | n.582G>C c.1233G>C (p.Leu411Phe) c.600G>C (p.Leu200Phe) c.*1168G>C (n.*1168G>C) | gnomAD v4 |
2 | g.15945935G= | CA2491131254 | MYCN | n.582G= c.1233G= (p.Leu411=) c.600G= (p.Leu200=) c.*1168G= (n.*1168G=) | |
2 | g.15945935G>T | CA345932564 | MYCN | n.582G>T c.1233G>T (p.Leu411Phe) c.600G>T (p.Leu200Phe) c.*1168G>T (n.*1168G>T) | |
2 | g.15945936G>A | CA345932565 | MYCN | n.583G>A c.1234G>A (p.Val412Ile) c.601G>A (p.Val201Ile) c.*1169G>A (n.*1169G>A) | dbSNP |
2 | g.15945936G>C | CA345932566 | MYCN | n.583G>C c.1234G>C (p.Val412Leu) c.601G>C (p.Val201Leu) c.*1169G>C (n.*1169G>C) | |
2 | g.15945936G= | CA2491131255 | MYCN | n.583G= c.1234G= (p.Val412=) c.601G= (p.Val201=) c.*1169G= (n.*1169G=) | |
2 | g.15945936G>T | CA1538333 | MYCN | n.583G>T c.1234G>T (p.Val412Leu) c.601G>T (p.Val201Leu) c.*1169G>T (n.*1169G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15945937T>A | CA345932567 | MYCN | n.584T>A c.1235T>A (p.Val412Glu) c.602T>A (p.Val201Glu) c.*1170T>A (n.*1170T>A) | dbSNP |
2 | g.15945937T>C | CA345932568 | MYCN | n.584T>C c.1235T>C (p.Val412Ala) c.602T>C (p.Val201Ala) c.*1170T>C (n.*1170T>C) | |
2 | g.15945937T>G | CA345932569 | MYCN | n.584T>G c.1235T>G (p.Val412Gly) c.602T>G (p.Val201Gly) c.*1170T>G (n.*1170T>G) | |
2 | g.15945938A>C | CA425092709 | MYCN | n.585A>C c.1236A>C (p.Val412=) c.603A>C (p.Val201=) c.*1171A>C (n.*1171A>C) | |
2 | g.15945938A>G | CA425092712 | MYCN | n.585A>G c.1236A>G (p.Val412=) c.603A>G (p.Val201=) c.*1171A>G (n.*1171A>G) | gnomAD v4 |
2 | g.15945938A>T | CA425092710 | MYCN | n.585A>T c.1236A>T (p.Val412=) c.603A>T (p.Val201=) c.*1171A>T (n.*1171A>T) | dbSNP |
2 | g.15945939A>C | CA345932570 | MYCN | n.586A>C c.1237A>C (p.Lys413Gln) c.604A>C (p.Lys202Gln) c.*1172A>C (n.*1172A>C) | |
2 | g.15945939A>G | CA345932571 | MYCN | n.586A>G c.1237A>G (p.Lys413Glu) c.604A>G (p.Lys202Glu) c.*1172A>G (n.*1172A>G) | |
2 | g.15945939A>T | CA345932572 | MYCN | n.586A>T c.1237A>T (p.Lys413Ter) c.604A>T (p.Lys202Ter) c.*1172A>T (n.*1172A>T) | |
2 | g.15945940A>C | CA345932575 | MYCN | n.587A>C c.1238A>C (p.Lys413Thr) c.605A>C (p.Lys202Thr) c.*1173A>C (n.*1173A>C) | |
2 | g.15945940A>G | CA345932574 | MYCN | n.587A>G c.1238A>G (p.Lys413Arg) c.605A>G (p.Lys202Arg) c.*1173A>G (n.*1173A>G) | |
2 | g.15945940A>T | CA345932573 | MYCN | n.587A>T c.1238A>T (p.Lys413Met) c.605A>T (p.Lys202Met) c.*1173A>T (n.*1173A>T) | |
2 | g.15945941G>A | CA425092715 | MYCN | n.588G>A c.1239G>A (p.Lys413=) c.606G>A (p.Lys202=) c.*1174G>A (n.*1174G>A) | |
2 | g.15945941G>C | CA345932576 | MYCN | n.588G>C c.1239G>C (p.Lys413Asn) c.606G>C (p.Lys202Asn) c.*1174G>C (n.*1174G>C) | |
2 | g.15945941G>T | CA345932577 | MYCN | n.588G>T c.1239G>T (p.Lys413Asn) c.606G>T (p.Lys202Asn) c.*1174G>T (n.*1174G>T) | |
2 | g.15945942A>C | CA345932578 | MYCN | n.589A>C c.1240A>C (p.Asn414His) c.607A>C (p.Asn203His) c.*1175A>C (n.*1175A>C) | |
2 | g.15945942A>G | CA345932579 | MYCN | n.589A>G c.1240A>G (p.Asn414Asp) c.607A>G (p.Asn203Asp) c.*1175A>G (n.*1175A>G) | |
2 | g.15945942A>T | CA345932580 | MYCN | n.589A>T c.1240A>T (p.Asn414Tyr) c.607A>T (p.Asn203Tyr) c.*1175A>T (n.*1175A>T) | |
2 | g.15945943A>C | CA345932581 | MYCN | n.590A>C c.1241A>C (p.Asn414Thr) c.608A>C (p.Asn203Thr) c.*1176A>C (n.*1176A>C) | |
2 | g.15945943A>G | CA345932582 | MYCN | n.590A>G c.1241A>G (p.Asn414Ser) c.608A>G (p.Asn203Ser) c.*1176A>G (n.*1176A>G) | |
2 | g.15945943A>T | CA345932583 | MYCN | n.590A>T c.1241A>T (p.Asn414Ile) c.608A>T (p.Asn203Ile) c.*1176A>T (n.*1176A>T) | |
2 | g.15945944T>A | CA1538334 | MYCN | n.591T>A c.1242T>A (p.Asn414Lys) c.609T>A (p.Asn203Lys) c.*1177T>A (n.*1177T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15945944T>C | CA425092718 | MYCN | n.591T>C c.1242T>C (p.Asn414=) c.609T>C (p.Asn203=) c.*1177T>C (n.*1177T>C) | gnomAD v4 |
2 | g.15945944T>G | CA345932584 | MYCN | n.591T>G c.1242T>G (p.Asn414Lys) c.609T>G (p.Asn203Lys) c.*1177T>G (n.*1177T>G) | |
2 | g.15945944T= | CA2491131256 | MYCN | n.591T= c.1242T= (p.Asn414=) c.609T= (p.Asn203=) c.*1177T= (n.*1177T=) | |
2 | g.15945945G>A | CA345932585 | MYCN | n.592G>A c.1243G>A (p.Glu415Lys) c.610G>A (p.Glu204Lys) c.*1178G>A (n.*1178G>A) | |
2 | g.15945945G>C | CA1538335 | MYCN | n.592G>C c.1243G>C (p.Glu415Gln) c.610G>C (p.Glu204Gln) c.*1178G>C (n.*1178G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15945945G= | CA2491131257 | MYCN | n.592G= c.1243G= (p.Glu415=) c.610G= (p.Glu204=) c.*1178G= (n.*1178G=) | |
2 | g.15945945G>T | CA345932586 | MYCN | n.592G>T c.1243G>T (p.Glu415Ter) c.610G>T (p.Glu204Ter) c.*1178G>T (n.*1178G>T) | |
2 | g.15945946A>C | CA345932589 | MYCN | n.593A>C c.1244A>C (p.Glu415Ala) c.611A>C (p.Glu204Ala) c.*1179A>C (n.*1179A>C) | |
2 | g.15945946A>G | CA345932588 | MYCN | n.593A>G c.1244A>G (p.Glu415Gly) c.611A>G (p.Glu204Gly) c.*1179A>G (n.*1179A>G) | |
2 | g.15945946A>T | CA345932587 | MYCN | n.593A>T c.1244A>T (p.Glu415Val) c.611A>T (p.Glu204Val) c.*1179A>T (n.*1179A>T) | |
2 | g.15945947G>A | CA425092719 | MYCN | n.594G>A c.1245G>A (p.Glu415=) c.612G>A (p.Glu204=) c.*1180G>A (n.*1180G>A) | dbSNP gnomAD v4 |
2 | g.15945947G>C | CA345932591 | MYCN | n.594G>C c.1245G>C (p.Glu415Asp) c.612G>C (p.Glu204Asp) c.*1180G>C (n.*1180G>C) | dbSNP |
2 | g.15945947G>T | CA345932590 | MYCN | n.594G>T c.1245G>T (p.Glu415Asp) c.612G>T (p.Glu204Asp) c.*1180G>T (n.*1180G>T) | |
2 | g.15945948A>C | CA345932592 | MYCN | n.595A>C c.1246A>C (p.Lys416Gln) c.613A>C (p.Lys205Gln) c.*1181A>C (n.*1181A>C) | |
2 | g.15945948A>G | CA345932593 | MYCN | n.595A>G c.1246A>G (p.Lys416Glu) c.613A>G (p.Lys205Glu) c.*1181A>G (n.*1181A>G) | |
2 | g.15945948A>T | CA345932594 | MYCN | n.595A>T c.1246A>T (p.Lys416Ter) c.613A>T (p.Lys205Ter) c.*1181A>T (n.*1181A>T) | |
2 | g.15945949A>C | CA345932595 | MYCN | n.596A>C c.1247A>C (p.Lys416Thr) c.614A>C (p.Lys205Thr) c.*1182A>C (n.*1182A>C) | |
2 | g.15945949A>G | CA345932596 | MYCN | n.596A>G c.1247A>G (p.Lys416Arg) c.614A>G (p.Lys205Arg) c.*1182A>G (n.*1182A>G) | |
2 | g.15945949A>T | CA345932597 | MYCN | n.596A>T c.1247A>T (p.Lys416Met) c.614A>T (p.Lys205Met) c.*1182A>T (n.*1182A>T) | |
2 | g.15945950G>A | CA425092722 | MYCN | n.597G>A c.1248G>A (p.Lys416=) c.615G>A (p.Lys205=) c.*1183G>A (n.*1183G>A) | |
2 | g.15945950G>C | CA345932599 | MYCN | n.597G>C c.1248G>C (p.Lys416Asn) c.615G>C (p.Lys205Asn) c.*1183G>C (n.*1183G>C) | |
2 | g.15945950G>T | CA345932598 | MYCN | n.597G>T c.1248G>T (p.Lys416Asn) c.615G>T (p.Lys205Asn) c.*1183G>T (n.*1183G>T) | |
2 | g.15945951G>A | CA1538336 | MYCN | n.598G>A c.1249G>A (p.Ala417Thr) c.616G>A (p.Ala206Thr) c.*1184G>A (n.*1184G>A) | dbSNP ExAC gnomAD v2 |
2 | g.15945951G>C | CA345932600 | MYCN | n.598G>C c.1249G>C (p.Ala417Pro) c.616G>C (p.Ala206Pro) c.*1184G>C (n.*1184G>C) | dbSNP gnomAD v4 |
2 | g.15945951G= | CA2491131258 | MYCN | n.598G= c.1249G= (p.Ala417=) c.616G= (p.Ala206=) c.*1184G= (n.*1184G=) | |
2 | g.15945951G>T | CA345932601 | MYCN | n.598G>T c.1249G>T (p.Ala417Ser) c.616G>T (p.Ala206Ser) c.*1184G>T (n.*1184G>T) | dbSNP gnomAD v2 |
2 | g.15945952C>A | CA345932602 | MYCN | n.599C>A c.1250C>A (p.Ala417Asp) c.617C>A (p.Ala206Asp) c.*1185C>A (n.*1185C>A) | dbSNP |
2 | g.15945952C>G | CA345932603 | MYCN | n.599C>G c.1250C>G (p.Ala417Gly) c.617C>G (p.Ala206Gly) c.*1185C>G (n.*1185C>G) | |
2 | g.15945952C>T | CA345932604 | MYCN | n.599C>T c.1250C>T (p.Ala417Val) c.617C>T (p.Ala206Val) c.*1185C>T (n.*1185C>T) | dbSNP COSMIC |
2 | g.15945953C>A | CA425092729 | MYCN | n.600C>A c.1251C>A (p.Ala417=) c.618C>A (p.Ala206=) c.*1186C>A (n.*1186C>A) | |
2 | g.15945953C= | CA2491131259 | MYCN | n.600C= c.1251C= (p.Ala417=) c.618C= (p.Ala206=) c.*1186C= (n.*1186C=) | |
2 | g.15945953C>G | CA425092726 | MYCN | n.600C>G c.1251C>G (p.Ala417=) c.618C>G (p.Ala206=) c.*1186C>G (n.*1186C>G) | |
2 | g.15945953C>T | CA425092727 | MYCN | n.600C>T c.1251C>T (p.Ala417=) c.618C>T (p.Ala206=) c.*1186C>T (n.*1186C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945954G>A | CA1538338 | MYCN | n.601G>A c.1252G>A (p.Ala418Thr) c.619G>A (p.Ala207Thr) c.*1187G>A (n.*1187G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15945954G>C | CA345932605 | MYCN | n.601G>C c.1252G>C (p.Ala418Pro) c.619G>C (p.Ala207Pro) c.*1187G>C (n.*1187G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15945954G= | CA2491131260 | MYCN | n.601G= c.1252G= (p.Ala418=) c.619G= (p.Ala207=) c.*1187G= (n.*1187G=) | |
2 | g.15945954G>T | CA1538337 | MYCN | n.601G>T c.1252G>T (p.Ala418Ser) c.619G>T (p.Ala207Ser) c.*1187G>T (n.*1187G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |