Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.15945840_15945849dup | CA2657954656 | MYCN | n.487_496dup c.1138_1147dup (p.Arg383GlnfsTer2) c.505_514dup (p.Arg172GlnfsTer2) c.*1073_*1082dup (n.*1073_*1082dup) | gnomAD v4 |
2 | g.15945847G>A | CA257017 | MYCN | n.494G>A c.1145G>A (p.Arg382His) c.512G>A (p.Arg171His) c.*1080G>A (n.*1080G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.15945847G>C | CA345932372 | MYCN | n.494G>C c.1145G>C (p.Arg382Pro) c.512G>C (p.Arg171Pro) c.*1080G>C (n.*1080G>C) | |
2 | g.15945847G= | CA2491131212 | MYCN | n.494G= c.1145G= (p.Arg382=) c.512G= (p.Arg171=) c.*1080G= (n.*1080G=) | |
2 | g.15945847G>T | CA345932373 | MYCN | n.494G>T c.1145G>T (p.Arg382Leu) c.512G>T (p.Arg171Leu) c.*1080G>T (n.*1080G>T) | |
2 | g.15945848T>A | CA425092902 | MYCN | n.495T>A c.1146T>A (p.Arg382=) c.513T>A (p.Arg171=) c.*1081T>A (n.*1081T>A) | dbSNP |
2 | g.15945848T>C | CA425092903 | MYCN | n.495T>C c.1146T>C (p.Arg382=) c.513T>C (p.Arg171=) c.*1081T>C (n.*1081T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15945848T>G | CA425092904 | MYCN | n.495T>G c.1146T>G (p.Arg382=) c.513T>G (p.Arg171=) c.*1081T>G (n.*1081T>G) | |
2 | g.15945848T= | CA2491131213 | MYCN | n.495T= c.1146T= (p.Arg382=) c.513T= (p.Arg171=) c.*1081T= (n.*1081T=) | |
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.15945849C>A | CA345932374 | MYCN | n.496C>A c.1147C>A (p.Arg383Ser) c.514C>A (p.Arg172Ser) c.*1082C>A (n.*1082C>A) | |
2 | g.15945849C>G | CA345932375 | MYCN | n.496C>G c.1147C>G (p.Arg383Gly) c.514C>G (p.Arg172Gly) c.*1082C>G (n.*1082C>G) | |
2 | g.15945849C>T | CA345932376 | MYCN | n.496C>T c.1147C>T (p.Arg383Cys) c.514C>T (p.Arg172Cys) c.*1082C>T (n.*1082C>T) | dbSNP gnomAD v4 |
2 | g.15945849dup | CA2657954658 | MYCN | n.496dup c.1147dup (p.Arg383ProfsTer?) c.514dup (p.Arg172ProfsTer?) c.*1082dup (n.*1082dup) | gnomAD v4 |
2 | g.15945850G>A | CA43192493 | MYCN | n.497G>A c.1148G>A (p.Arg383His) c.515G>A (p.Arg172His) c.*1083G>A (n.*1083G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945850G>C | CA345932378 | MYCN | n.497G>C c.1148G>C (p.Arg383Pro) c.515G>C (p.Arg172Pro) c.*1083G>C (n.*1083G>C) | |
2 | g.15945850G= | CA2491131214 | MYCN | n.497G= c.1148G= (p.Arg383=) c.515G= (p.Arg172=) c.*1083G= (n.*1083G=) | |
2 | g.15945850G>T | CA345932377 | MYCN | n.497G>T c.1148G>T (p.Arg383Leu) c.515G>T (p.Arg172Leu) c.*1083G>T (n.*1083G>T) | |
2 | g.15945851C>A | CA425092905 | MYCN | n.498C>A c.1149C>A (p.Arg383=) c.516C>A (p.Arg172=) c.*1084C>A (n.*1084C>A) | |
2 | g.15945851C= | CA2491131215 | MYCN | n.498C= c.1149C= (p.Arg383=) c.516C= (p.Arg172=) c.*1084C= (n.*1084C=) | |
2 | g.15945851C>G | CA425092907 | MYCN | n.498C>G c.1149C>G (p.Arg383=) c.516C>G (p.Arg172=) c.*1084C>G (n.*1084C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15945851C>T | CA425092906 | MYCN | n.498C>T c.1149C>T (p.Arg383=) c.516C>T (p.Arg172=) c.*1084C>T (n.*1084C>T) | dbSNP |
2 | g.15945852A>C | CA425092908 | MYCN | n.499A>C c.1150A>C (p.Arg384=) c.517A>C (p.Arg173=) c.*1085A>C (n.*1085A>C) | |
2 | g.15945852A>G | CA345932379 | MYCN | n.499A>G c.1150A>G (p.Arg384Gly) c.517A>G (p.Arg173Gly) c.*1085A>G (n.*1085A>G) | |
2 | g.15945852A>T | CA345932380 | MYCN | n.499A>T c.1150A>T (p.Arg384Ter) c.517A>T (p.Arg173Ter) c.*1085A>T (n.*1085A>T) | |
2 | g.15945853G>A | CA345932381 | MYCN | n.500G>A c.1151G>A (p.Arg384Lys) c.518G>A (p.Arg173Lys) c.*1086G>A (n.*1086G>A) | dbSNP |
2 | g.15945853G>C | CA345932382 | MYCN | n.500G>C c.1151G>C (p.Arg384Thr) c.518G>C (p.Arg173Thr) c.*1086G>C (n.*1086G>C) | dbSNP |
2 | g.15945853G>T | CA345932383 | MYCN | n.500G>T c.1151G>T (p.Arg384Ile) c.518G>T (p.Arg173Ile) c.*1086G>T (n.*1086G>T) | |
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 |