Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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) |