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