Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.15945780_15945818dup | CA2657954654 | MYCN | n.427_465dup c.1078_1116dup (p.Pro372_Arg373insLysSerValIleProProLysAlaLysSerLeuSerPro) c.445_483dup (p.Pro161_Arg162insLysSerValIleProProLysAlaLysSerLeuSerPro) c.*1013_*1051dup (n.*1013_*1051dup) | gnomAD v4 |
2 | g.15945783A>C | CA345932229 | MYCN | n.430A>C c.1081A>C (p.Ser361Arg) c.448A>C (p.Ser150Arg) c.*1016A>C (n.*1016A>C) | |
2 | g.15945783A>G | CA345932230 | MYCN | n.430A>G c.1081A>G (p.Ser361Gly) c.448A>G (p.Ser150Gly) c.*1016A>G (n.*1016A>G) | dbSNP |
2 | g.15945783A>T | CA345932231 | MYCN | n.430A>T c.1081A>T (p.Ser361Cys) c.448A>T (p.Ser150Cys) c.*1016A>T (n.*1016A>T) | |
2 | g.15945784G>A | CA345932232 | MYCN | n.431G>A c.1082G>A (p.Ser361Asn) c.449G>A (p.Ser150Asn) c.*1017G>A (n.*1017G>A) | |
2 | g.15945784G>C | CA345932233 | MYCN | n.431G>C c.1082G>C (p.Ser361Thr) c.449G>C (p.Ser150Thr) c.*1017G>C (n.*1017G>C) | dbSNP |
2 | g.15945784G>T | CA345932234 | MYCN | n.431G>T c.1082G>T (p.Ser361Ile) c.449G>T (p.Ser150Ile) c.*1017G>T (n.*1017G>T) | gnomAD v4 |
2 | g.15945785T>A | CA345932236 | MYCN | n.432T>A c.1083T>A (p.Ser361Arg) c.450T>A (p.Ser150Arg) c.*1018T>A (n.*1018T>A) | |
2 | g.15945785T>C | CA425092836 | MYCN | n.432T>C c.1083T>C (p.Ser361=) c.450T>C (p.Ser150=) c.*1018T>C (n.*1018T>C) | |
2 | g.15945785T>G | CA345932235 | MYCN | n.432T>G c.1083T>G (p.Ser361Arg) c.450T>G (p.Ser150Arg) c.*1018T>G (n.*1018T>G) | |
2 | g.15945786G>A | CA345932237 | MYCN | n.433G>A c.1084G>A (p.Val362Ile) c.451G>A (p.Val151Ile) c.*1019G>A (n.*1019G>A) | dbSNP |
2 | g.15945786G>C | CA345932238 | MYCN | n.433G>C c.1084G>C (p.Val362Leu) c.451G>C (p.Val151Leu) c.*1019G>C (n.*1019G>C) | |
2 | g.15945786G>T | CA345932239 | MYCN | n.433G>T c.1084G>T (p.Val362Phe) c.451G>T (p.Val151Phe) c.*1019G>T (n.*1019G>T) | |
2 | g.15945787T>A | CA345932240 | MYCN | n.434T>A c.1085T>A (p.Val362Asp) c.452T>A (p.Val151Asp) c.*1020T>A (n.*1020T>A) | dbSNP |
2 | g.15945787T>C | CA345932241 | MYCN | n.434T>C c.1085T>C (p.Val362Ala) c.452T>C (p.Val151Ala) c.*1020T>C (n.*1020T>C) | |
2 | g.15945787T>G | CA345932242 | MYCN | n.434T>G c.1085T>G (p.Val362Gly) c.452T>G (p.Val151Gly) c.*1020T>G (n.*1020T>G) | |
2 | g.15945788C>A | CA425092838 | MYCN | n.435C>A c.1086C>A (p.Val362=) c.453C>A (p.Val151=) c.*1021C>A (n.*1021C>A) | dbSNP |
2 | g.15945788C>G | CA425092839 | MYCN | n.435C>G c.1086C>G (p.Val362=) c.453C>G (p.Val151=) c.*1021C>G (n.*1021C>G) | |
2 | g.15945788C>T | CA425092840 | MYCN | n.435C>T c.1086C>T (p.Val362=) c.453C>T (p.Val151=) c.*1021C>T (n.*1021C>T) | |
2 | g.15945789A= | CA2491131185 | MYCN | n.436A= c.1087A= (p.Ile363=) c.454A= (p.Ile152=) c.*1022A= (n.*1022A=) | |
2 | g.15945789A>C | CA345932243 | MYCN | n.436A>C c.1087A>C (p.Ile363Leu) c.454A>C (p.Ile152Leu) c.*1022A>C (n.*1022A>C) | |
2 | g.15945789A>G | CA1538312 | MYCN | n.436A>G c.1087A>G (p.Ile363Val) c.454A>G (p.Ile152Val) c.*1022A>G (n.*1022A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945789A>T | CA345932244 | MYCN | n.436A>T c.1087A>T (p.Ile363Phe) c.454A>T (p.Ile152Phe) c.*1022A>T (n.*1022A>T) | |
2 | g.15945789_15945790del | CA2566875424 | MYCN | n.436_437del c.1087_1088del (p.Ile363ProfsTer5) c.454_455del (p.Ile152ProfsTer5) c.*1022_*1023del (n.*1022_*1023del) | |
2 | g.15945790T>A | CA345932245 | MYCN | n.437T>A c.1088T>A (p.Ile363Asn) c.455T>A (p.Ile152Asn) c.*1023T>A (n.*1023T>A) | |
2 | g.15945790T>C | CA345932246 | MYCN | n.437T>C c.1088T>C (p.Ile363Thr) c.455T>C (p.Ile152Thr) c.*1023T>C (n.*1023T>C) | dbSNP |
2 | g.15945790T>G | CA345932247 | MYCN | n.437T>G c.1088T>G (p.Ile363Ser) c.455T>G (p.Ile152Ser) c.*1023T>G (n.*1023T>G) | |
2 | g.15945790T= | CA2491131186 | MYCN | n.437T= c.1088T= (p.Ile363=) c.455T= (p.Ile152=) c.*1023T= (n.*1023T=) | |
2 | g.15945791C>A | CA1538314 | MYCN | n.438C>A c.1089C>A (p.Ile363=) c.456C>A (p.Ile152=) c.*1024C>A (n.*1024C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15945791C= | CA2491131187 | MYCN | n.438C= c.1089C= (p.Ile363=) c.456C= (p.Ile152=) c.*1024C= (n.*1024C=) | |
2 | g.15945791C>G | CA345932248 | MYCN | n.438C>G c.1089C>G (p.Ile363Met) c.456C>G (p.Ile152Met) c.*1024C>G (n.*1024C>G) | dbSNP |
2 | g.15945791C>T | CA1538313 | MYCN | n.438C>T c.1089C>T (p.Ile363=) c.456C>T (p.Ile152=) c.*1024C>T (n.*1024C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15945796dup | CA1139656756 | MYCN | n.443dup c.1094dup (p.Ala367GlyfsTer2) c.461dup (p.Ala156GlyfsTer2) c.*1029dup (n.*1029dup) | ClinVar dbSNP |
2 | g.15945796del | CA2698501412 | MYCN | n.443del c.1094del (p.Pro365GlnfsTer6) c.461del (p.Pro154GlnfsTer6) c.*1029del (n.*1029del) | dbSNP |
2 | g.15945792C>A | CA345932249 | MYCN | n.439C>A c.1090C>A (p.Pro364Thr) c.457C>A (p.Pro153Thr) c.*1025C>A (n.*1025C>A) | dbSNP |
2 | g.15945792C= | CA2491131188 | MYCN | n.439C= c.1090C= (p.Pro364=) c.457C= (p.Pro153=) c.*1025C= (n.*1025C=) | |
2 | g.15945792C>G | CA345932250 | MYCN | n.439C>G c.1090C>G (p.Pro364Ala) c.457C>G (p.Pro153Ala) c.*1025C>G (n.*1025C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15945792C>T | CA1538315 | MYCN | n.439C>T c.1090C>T (p.Pro364Ser) c.457C>T (p.Pro153Ser) c.*1025C>T (n.*1025C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945793C>A | CA345932251 | MYCN | n.440C>A c.1091C>A (p.Pro364His) c.458C>A (p.Pro153His) c.*1026C>A (n.*1026C>A) | dbSNP |
2 | g.15945793C= | CA2491131189 | MYCN | n.440C= c.1091C= (p.Pro364=) c.458C= (p.Pro153=) c.*1026C= (n.*1026C=) | |
2 | g.15945793C>G | CA345932252 | MYCN | n.440C>G c.1091C>G (p.Pro364Arg) c.458C>G (p.Pro153Arg) c.*1026C>G (n.*1026C>G) | |
2 | g.15945793C>T | CA1538316 | MYCN | n.440C>T c.1091C>T (p.Pro364Leu) c.458C>T (p.Pro153Leu) c.*1026C>T (n.*1026C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945794C>A | CA425092845 | MYCN | n.441C>A c.1092C>A (p.Pro364=) c.459C>A (p.Pro153=) c.*1027C>A (n.*1027C>A) | dbSNP gnomAD v4 |
2 | g.15945794C= | CA2491131190 | MYCN | n.441C= c.1092C= (p.Pro364=) c.459C= (p.Pro153=) c.*1027C= (n.*1027C=) | |
2 | g.15945794C>G | CA425092846 | MYCN | n.441C>G c.1092C>G (p.Pro364=) c.459C>G (p.Pro153=) c.*1027C>G (n.*1027C>G) | |
2 | g.15945794C>T | CA1538317 | MYCN | n.441C>T c.1092C>T (p.Pro364=) c.459C>T (p.Pro153=) c.*1027C>T (n.*1027C>T) | dbSNP ExAC COSMIC |
2 | g.15945795C>A | CA43192489 | MYCN | n.442C>A c.1093C>A (p.Pro365Thr) c.460C>A (p.Pro154Thr) c.*1028C>A (n.*1028C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945795C= | CA2491131191 | MYCN | n.442C= c.1093C= (p.Pro365=) c.460C= (p.Pro154=) c.*1028C= (n.*1028C=) | |
2 | g.15945795C>G | CA1538318 | MYCN | n.442C>G c.1093C>G (p.Pro365Ala) c.460C>G (p.Pro154Ala) c.*1028C>G (n.*1028C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945795C>T | CA345932253 | MYCN | n.442C>T c.1093C>T (p.Pro365Ser) c.460C>T (p.Pro154Ser) c.*1028C>T (n.*1028C>T) | |
2 | g.15945795_15945796insGC | CA2499684362 | MYCN | n.442_443insGC c.1093_1094insGC (p.Pro365ArgfsTer7) c.460_461insGC (p.Pro154ArgfsTer7) c.*1028_*1029insGC (n.*1028_*1029insGC) | |
2 | g.15945796C>A | CA43192490 | MYCN | n.443C>A c.1094C>A (p.Pro365Gln) c.461C>A (p.Pro154Gln) c.*1029C>A (n.*1029C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945796C= | CA2491131192 | MYCN | n.443C= c.1094C= (p.Pro365=) c.461C= (p.Pro154=) c.*1029C= (n.*1029C=) | |
2 | g.15945796C>G | CA345932254 | MYCN | n.443C>G c.1094C>G (p.Pro365Arg) c.461C>G (p.Pro154Arg) c.*1029C>G (n.*1029C>G) | |
2 | g.15945796C>T | CA345932255 | MYCN | n.443C>T c.1094C>T (p.Pro365Leu) c.461C>T (p.Pro154Leu) c.*1029C>T (n.*1029C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15945797A>C | CA425092848 | MYCN | n.444A>C c.1095A>C (p.Pro365=) c.462A>C (p.Pro154=) c.*1030A>C (n.*1030A>C) | |
2 | g.15945797A>G | CA425092850 | MYCN | n.444A>G c.1095A>G (p.Pro365=) c.462A>G (p.Pro154=) c.*1030A>G (n.*1030A>G) | gnomAD v4 COSMIC |
2 | g.15945797A>T | CA425092849 | MYCN | n.444A>T c.1095A>T (p.Pro365=) c.462A>T (p.Pro154=) c.*1030A>T (n.*1030A>T) | |
2 | g.15945799dup | CA2586968722 | MYCN | n.446dup c.1097dup (p.Ala367GlyfsTer2) c.464dup (p.Ala156GlyfsTer2) c.*1032dup (n.*1032dup) | |
2 | g.15945798A>C | CA345932257 | MYCN | n.445A>C c.1096A>C (p.Lys366Gln) c.463A>C (p.Lys155Gln) c.*1031A>C (n.*1031A>C) | |
2 | g.15945798A>G | CA345932258 | MYCN | n.445A>G c.1096A>G (p.Lys366Glu) c.463A>G (p.Lys155Glu) c.*1031A>G (n.*1031A>G) | |
2 | g.15945798A>T | CA345932256 | MYCN | n.445A>T c.1096A>T (p.Lys366Ter) c.463A>T (p.Lys155Ter) c.*1031A>T (n.*1031A>T) | |
2 | g.15945799A= | CA2491131193 | MYCN | n.446A= c.1097A= (p.Lys366=) c.464A= (p.Lys155=) c.*1032A= (n.*1032A=) | |
2 | g.15945799A>C | CA345932261 | MYCN | n.446A>C c.1097A>C (p.Lys366Thr) c.464A>C (p.Lys155Thr) c.*1032A>C (n.*1032A>C) | gnomAD v4 |
2 | g.15945799A>G | CA345932259 | MYCN | n.446A>G c.1097A>G (p.Lys366Arg) c.464A>G (p.Lys155Arg) c.*1032A>G (n.*1032A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15945799A>T | CA345932260 | MYCN | n.446A>T c.1097A>T (p.Lys366Met) c.464A>T (p.Lys155Met) c.*1032A>T (n.*1032A>T) | |
2 | g.15945800G>A | CA425092854 | MYCN | n.447G>A c.1098G>A (p.Lys366=) c.465G>A (p.Lys155=) c.*1033G>A (n.*1033G>A) | |
2 | g.15945800G>C | CA345932262 | MYCN | n.447G>C c.1098G>C (p.Lys366Asn) c.465G>C (p.Lys155Asn) c.*1033G>C (n.*1033G>C) | |
2 | g.15945800G>T | CA345932263 | MYCN | n.447G>T c.1098G>T (p.Lys366Asn) c.465G>T (p.Lys155Asn) c.*1033G>T (n.*1033G>T) | |
2 | g.15945801G>A | CA345932264 | MYCN | n.448G>A c.1099G>A (p.Ala367Thr) c.466G>A (p.Ala156Thr) c.*1034G>A (n.*1034G>A) | dbSNP |
2 | g.15945801G>C | CA345932265 | MYCN | n.448G>C c.1099G>C (p.Ala367Pro) c.466G>C (p.Ala156Pro) c.*1034G>C (n.*1034G>C) | dbSNP |
2 | g.15945801G>T | CA345932266 | MYCN | n.448G>T c.1099G>T (p.Ala367Ser) c.466G>T (p.Ala156Ser) c.*1034G>T (n.*1034G>T) | |
2 | g.15945802C>A | CA345932267 | MYCN | n.449C>A c.1100C>A (p.Ala367Asp) c.467C>A (p.Ala156Asp) c.*1035C>A (n.*1035C>A) | |
2 | g.15945802C= | CA2491131194 | MYCN | n.449C= c.1100C= (p.Ala367=) c.467C= (p.Ala156=) c.*1035C= (n.*1035C=) | |
2 | g.15945802C>G | CA345932268 | MYCN | n.449C>G c.1100C>G (p.Ala367Gly) c.467C>G (p.Ala156Gly) c.*1035C>G (n.*1035C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945802C>T | CA345932269 | MYCN | n.449C>T c.1100C>T (p.Ala367Val) c.467C>T (p.Ala156Val) c.*1035C>T (n.*1035C>T) | |
2 | g.15945803T>A | CA425092856 | MYCN | n.450T>A c.1101T>A (p.Ala367=) c.468T>A (p.Ala156=) c.*1036T>A (n.*1036T>A) | |
2 | g.15945803T>C | CA425092857 | MYCN | n.450T>C c.1101T>C (p.Ala367=) c.468T>C (p.Ala156=) c.*1036T>C (n.*1036T>C) | |
2 | g.15945803T>G | CA425092858 | MYCN | n.450T>G c.1101T>G (p.Ala367=) c.468T>G (p.Ala156=) c.*1036T>G (n.*1036T>G) | |
2 | g.15945804A= | CA2491131195 | MYCN | n.451A= c.1102A= (p.Lys368=) c.469A= (p.Lys157=) c.*1037A= (n.*1037A=) | |
2 | g.15945804A>C | CA345932270 | MYCN | n.451A>C c.1102A>C (p.Lys368Gln) c.469A>C (p.Lys157Gln) c.*1037A>C (n.*1037A>C) | |
2 | g.15945804A>G | CA345932271 | MYCN | n.451A>G c.1102A>G (p.Lys368Glu) c.469A>G (p.Lys157Glu) c.*1037A>G (n.*1037A>G) | |
2 | g.15945804A>T | CA345932272 | MYCN | n.451A>T c.1102A>T (p.Lys368Ter) c.469A>T (p.Lys157Ter) c.*1037A>T (n.*1037A>T) | dbSNP |
2 | g.15945805A>C | CA345932275 | MYCN | n.452A>C c.1103A>C (p.Lys368Thr) c.470A>C (p.Lys157Thr) c.*1038A>C (n.*1038A>C) | |
2 | g.15945805A>G | CA345932273 | MYCN | n.452A>G c.1103A>G (p.Lys368Arg) c.470A>G (p.Lys157Arg) c.*1038A>G (n.*1038A>G) | |
2 | g.15945805A>T | CA345932274 | MYCN | n.452A>T c.1103A>T (p.Lys368Met) c.470A>T (p.Lys157Met) c.*1038A>T (n.*1038A>T) | |
2 | g.15945807_15945808dup | CA915943699 | MYCN | n.454_455dup c.1105_1106dup (p.Ser369ArgfsTer3) c.472_473dup (p.Ser158ArgfsTer3) c.*1040_*1041dup (n.*1040_*1041dup) | ClinVar dbSNP |
2 | g.15945806G>A | CA425092860 | MYCN | n.453G>A c.1104G>A (p.Lys368=) c.471G>A (p.Lys157=) c.*1039G>A (n.*1039G>A) | |
2 | g.15945806G>C | CA345932276 | MYCN | n.453G>C c.1104G>C (p.Lys368Asn) c.471G>C (p.Lys157Asn) c.*1039G>C (n.*1039G>C) | dbSNP |
2 | g.15945806G>T | CA345932277 | MYCN | n.453G>T c.1104G>T (p.Lys368Asn) c.471G>T (p.Lys157Asn) c.*1039G>T (n.*1039G>T) | gnomAD v4 |
2 | g.15945807A>C | CA345932278 | MYCN | n.454A>C c.1105A>C (p.Ser369Arg) c.472A>C (p.Ser158Arg) c.*1040A>C (n.*1040A>C) | |
2 | g.15945807A>G | CA345932279 | MYCN | n.454A>G c.1105A>G (p.Ser369Gly) c.472A>G (p.Ser158Gly) c.*1040A>G (n.*1040A>G) | gnomAD v4 |
2 | g.15945807A>T | CA345932280 | MYCN | n.454A>T c.1105A>T (p.Ser369Cys) c.472A>T (p.Ser158Cys) c.*1040A>T (n.*1040A>T) | |
2 | g.15945808G>A | CA345932281 | MYCN | n.455G>A c.1106G>A (p.Ser369Asn) c.473G>A (p.Ser158Asn) c.*1041G>A (n.*1041G>A) | gnomAD v4 |
2 | g.15945808G>C | CA345932282 | MYCN | n.455G>C c.1106G>C (p.Ser369Thr) c.473G>C (p.Ser158Thr) c.*1041G>C (n.*1041G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945808G= | CA2491131196 | MYCN | n.455G= c.1106G= (p.Ser369=) c.473G= (p.Ser158=) c.*1041G= (n.*1041G=) | |
2 | g.15945808G>T | CA345932283 | MYCN | n.455G>T c.1106G>T (p.Ser369Ile) c.473G>T (p.Ser158Ile) c.*1041G>T (n.*1041G>T) | |
2 | g.15945809C>A | CA345932284 | MYCN | n.456C>A c.1107C>A (p.Ser369Arg) c.474C>A (p.Ser158Arg) c.*1042C>A (n.*1042C>A) | COSMIC |
2 | g.15945809C>G | CA345932285 | MYCN | n.456C>G c.1107C>G (p.Ser369Arg) c.474C>G (p.Ser158Arg) c.*1042C>G (n.*1042C>G) | |
2 | g.15945809C>T | CA425092862 | MYCN | n.456C>T c.1107C>T (p.Ser369=) c.474C>T (p.Ser158=) c.*1042C>T (n.*1042C>T) | |
2 | g.15945810T>A | CA345932286 | MYCN | n.457T>A c.1108T>A (p.Leu370Met) c.475T>A (p.Leu159Met) c.*1043T>A (n.*1043T>A) | |
2 | g.15945810T>C | CA425092863 | MYCN | n.457T>C c.1108T>C (p.Leu370=) c.475T>C (p.Leu159=) c.*1043T>C (n.*1043T>C) | |
2 | g.15945810T>G | CA345932287 | MYCN | n.457T>G c.1108T>G (p.Leu370Val) c.475T>G (p.Leu159Val) c.*1043T>G (n.*1043T>G) | |
2 | g.15945811T>A | CA345932290 | MYCN | n.458T>A c.1109T>A (p.Leu370Ter) c.476T>A (p.Leu159Ter) c.*1044T>A (n.*1044T>A) | |
2 | g.15945811T>C | CA345932289 | MYCN | n.458T>C c.1109T>C (p.Leu370Ser) c.476T>C (p.Leu159Ser) c.*1044T>C (n.*1044T>C) | |
2 | g.15945811T>G | CA345932288 | MYCN | n.458T>G c.1109T>G (p.Leu370Trp) c.476T>G (p.Leu159Trp) c.*1044T>G (n.*1044T>G) | |
2 | g.15945812G>A | CA425092866 | MYCN | n.459G>A c.1110G>A (p.Leu370=) c.477G>A (p.Leu159=) c.*1045G>A (n.*1045G>A) | |
2 | g.15945812G>C | CA345932291 | MYCN | n.459G>C c.1110G>C (p.Leu370Phe) c.477G>C (p.Leu159Phe) c.*1045G>C (n.*1045G>C) | |
2 | g.15945812G>T | CA345932292 | MYCN | n.459G>T c.1110G>T (p.Leu370Phe) c.477G>T (p.Leu159Phe) c.*1045G>T (n.*1045G>T) | |
2 | g.15945812dup | CA2586968723 | MYCN | n.459dup c.1110dup (p.Ser371GlufsTer6) c.477dup (p.Ser160GlufsTer6) c.*1045dup (n.*1045dup) | |
2 | g.15945813A>C | CA345932293 | MYCN | n.460A>C c.1111A>C (p.Ser371Arg) c.478A>C (p.Ser160Arg) c.*1046A>C (n.*1046A>C) | |
2 | g.15945813A>G | CA345932294 | MYCN | n.460A>G c.1111A>G (p.Ser371Gly) c.478A>G (p.Ser160Gly) c.*1046A>G (n.*1046A>G) | dbSNP |
2 | g.15945813A>T | CA345932295 | MYCN | n.460A>T c.1111A>T (p.Ser371Cys) c.478A>T (p.Ser160Cys) c.*1046A>T (n.*1046A>T) | dbSNP |
2 | g.15945814G>A | CA345932296 | MYCN | n.461G>A c.1112G>A (p.Ser371Asn) c.479G>A (p.Ser160Asn) c.*1047G>A (n.*1047G>A) | dbSNP |
2 | g.15945814G>C | CA345932297 | MYCN | n.461G>C c.1112G>C (p.Ser371Thr) c.479G>C (p.Ser160Thr) c.*1047G>C (n.*1047G>C) | dbSNP |
2 | g.15945814G>T | CA345932298 | MYCN | n.461G>T c.1112G>T (p.Ser371Ile) c.479G>T (p.Ser160Ile) c.*1047G>T (n.*1047G>T) | gnomAD v4 |
2 | g.15945815C>A | CA345932299 | MYCN | n.462C>A c.1113C>A (p.Ser371Arg) c.480C>A (p.Ser160Arg) c.*1048C>A (n.*1048C>A) | dbSNP gnomAD v4 |
2 | g.15945815C>G | CA345932300 | MYCN | n.462C>G c.1113C>G (p.Ser371Arg) c.480C>G (p.Ser160Arg) c.*1048C>G (n.*1048C>G) | |
2 | g.15945815C>T | CA425092868 | MYCN | n.462C>T c.1113C>T (p.Ser371=) c.480C>T (p.Ser160=) c.*1048C>T (n.*1048C>T) | dbSNP gnomAD v4 |
2 | g.15945816C>A | CA345932301 | MYCN | n.463C>A c.1114C>A (p.Pro372Thr) c.481C>A (p.Pro161Thr) c.*1049C>A (n.*1049C>A) | dbSNP |
2 | g.15945816C= | CA2491131197 | MYCN | n.463C= c.1114C= (p.Pro372=) c.481C= (p.Pro161=) c.*1049C= (n.*1049C=) | |
2 | g.15945816C>G | CA1538319 | MYCN | n.463C>G c.1114C>G (p.Pro372Ala) c.481C>G (p.Pro161Ala) c.*1049C>G (n.*1049C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15945816C>T | CA345932302 | MYCN | n.463C>T c.1114C>T (p.Pro372Ser) c.481C>T (p.Pro161Ser) c.*1049C>T (n.*1049C>T) | gnomAD v4 |
2 | g.15945817C>A | CA345932305 | MYCN | n.464C>A c.1115C>A (p.Pro372His) c.482C>A (p.Pro161His) c.*1050C>A (n.*1050C>A) | |
2 | g.15945817C>G | CA345932303 | MYCN | n.464C>G c.1115C>G (p.Pro372Arg) c.482C>G (p.Pro161Arg) c.*1050C>G (n.*1050C>G) | |
2 | g.15945817C>T | CA345932304 | MYCN | n.464C>T c.1115C>T (p.Pro372Leu) c.482C>T (p.Pro161Leu) c.*1050C>T (n.*1050C>T) | dbSNP |
2 | g.15945818C>A | CA425092872 | MYCN | n.465C>A c.1116C>A (p.Pro372=) c.483C>A (p.Pro161=) c.*1051C>A (n.*1051C>A) | |
2 | g.15945818C>G | CA425092870 | MYCN | n.465C>G c.1116C>G (p.Pro372=) c.483C>G (p.Pro161=) c.*1051C>G (n.*1051C>G) | dbSNP |
2 | g.15945818C>T | CA425092871 | MYCN | n.465C>T c.1116C>T (p.Pro372=) c.483C>T (p.Pro161=) c.*1051C>T (n.*1051C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.15945819C>A | CA1538320 | MYCN | n.466C>A c.1117C>A (p.Arg373=) c.484C>A (p.Arg162=) c.*1052C>A (n.*1052C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15945819C= | CA2491131198 | MYCN | n.466C= c.1117C= (p.Arg373=) c.484C= (p.Arg162=) c.*1052C= (n.*1052C=) | |
2 | g.15945819C>G | CA345932306 | MYCN | n.466C>G c.1117C>G (p.Arg373Gly) c.484C>G (p.Arg162Gly) c.*1052C>G (n.*1052C>G) | dbSNP |
2 | g.15945819C>T | CA345932307 | MYCN | n.466C>T c.1117C>T (p.Arg373Ter) c.484C>T (p.Arg162Ter) c.*1052C>T (n.*1052C>T) | ClinVar dbSNP gnomAD v2 |
2 | g.15945820_15945824del | CA2657954655 | MYCN | n.467_471del c.1118_1122del (p.Arg373LeufsTer2) c.485_489del (p.Arg162LeufsTer2) c.*1053_*1057del (n.*1053_*1057del) | gnomAD v4 |
2 | g.15945820G>A | CA345932308 | MYCN | n.467G>A c.1118G>A (p.Arg373Gln) c.485G>A (p.Arg162Gln) c.*1053G>A (n.*1053G>A) | dbSNP gnomAD v4 COSMIC |
2 | g.15945820G>C | CA345932309 | MYCN | n.467G>C c.1118G>C (p.Arg373Pro) c.485G>C (p.Arg162Pro) c.*1053G>C (n.*1053G>C) | dbSNP |
2 | g.15945820G>T | CA345932310 | MYCN | n.467G>T c.1118G>T (p.Arg373Leu) c.485G>T (p.Arg162Leu) c.*1053G>T (n.*1053G>T) | |
2 | g.15945820_15945826delinsGAAACTC | CA2491131199 | MYCN | n.467_473delinsGAAACTC c.1118_1124delinsGAAACTC (p.Arg373=) c.485_491delinsGAAACTC (p.Arg162=) c.*1053_*1059delinsGAAACTC (n.*1053_*1059delinsGAAACTC) | |
2 | g.15945821A>C | CA425092877 | MYCN | n.468A>C c.1119A>C (p.Arg373=) c.486A>C (p.Arg162=) c.*1054A>C (n.*1054A>C) | gnomAD v4 |
2 | g.15945821A>G | CA425092878 | MYCN | n.468A>G c.1119A>G (p.Arg373=) c.486A>G (p.Arg162=) c.*1054A>G (n.*1054A>G) | dbSNP |
2 | g.15945821A>T | CA425092879 | MYCN | n.468A>T c.1119A>T (p.Arg373=) c.486A>T (p.Arg162=) c.*1054A>T (n.*1054A>T) | |
2 | g.15945821_15945826del | CA1538321 | MYCN | n.468_473del c.1119_1124del (p.Asn374_Ser375del) c.486_491del (p.Asn163_Ser164del) c.*1054_*1059del (n.*1054_*1059del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15945822A>C | CA345932311 | MYCN | n.469A>C c.1120A>C (p.Asn374His) c.487A>C (p.Asn163His) c.*1055A>C (n.*1055A>C) | |
2 | g.15945822A>G | CA345932312 | MYCN | n.469A>G c.1120A>G (p.Asn374Asp) c.487A>G (p.Asn163Asp) c.*1055A>G (n.*1055A>G) | gnomAD v4 |
2 | g.15945822A>T | CA345932313 | MYCN | n.469A>T c.1120A>T (p.Asn374Tyr) c.487A>T (p.Asn163Tyr) c.*1055A>T (n.*1055A>T) | |
2 | g.15945823A>C | CA345932314 | MYCN | n.470A>C c.1121A>C (p.Asn374Thr) c.488A>C (p.Asn163Thr) c.*1056A>C (n.*1056A>C) | |
2 | g.15945823A>G | CA345932315 | MYCN | n.470A>G c.1121A>G (p.Asn374Ser) c.488A>G (p.Asn163Ser) c.*1056A>G (n.*1056A>G) | |
2 | g.15945823A>T | CA345932316 | MYCN | n.470A>T c.1121A>T (p.Asn374Ile) c.488A>T (p.Asn163Ile) c.*1056A>T (n.*1056A>T) | |
2 | g.15945823_15945825delinsACT | CA2491131200 | MYCN | n.470_472delinsACT c.1121_1123delinsACT (p.Asn374=) c.488_490delinsACT (p.Asn163=) c.*1056_*1058delinsACT (n.*1056_*1058delinsACT) | |
2 | g.15945825_15945839del | CA2576682126 | MYCN | n.472_486del c.1123_1137del (p.Ser375_Asp379del) c.490_504del (p.Ser164_Asp168del) c.*1058_*1072del (n.*1058_*1072del) | |
2 | g.15945824C>A | CA345932318 | MYCN | n.471C>A c.1122C>A (p.Asn374Lys) c.489C>A (p.Asn163Lys) c.*1057C>A (n.*1057C>A) | |
2 | g.15945824C>G | CA345932317 | MYCN | n.471C>G c.1122C>G (p.Asn374Lys) c.489C>G (p.Asn163Lys) c.*1057C>G (n.*1057C>G) | |
2 | g.15945824C>T | CA425092881 | MYCN | n.471C>T c.1122C>T (p.Asn374=) c.489C>T (p.Asn163=) c.*1057C>T (n.*1057C>T) | |
2 | g.15945826_15945827del | CA10588313 | MYCN | n.473_474del c.1124_1125del (p.Ser375Ter) c.491_492del (p.Ser164Ter) c.*1059_*1060del (n.*1059_*1060del) | ClinVar dbSNP |
2 | g.15945825T>A | CA345932319 | MYCN | n.472T>A c.1123T>A (p.Ser375Thr) c.490T>A (p.Ser164Thr) c.*1058T>A (n.*1058T>A) | |
2 | g.15945825T>C | CA345932321 | MYCN | n.472T>C c.1123T>C (p.Ser375Pro) c.490T>C (p.Ser164Pro) c.*1058T>C (n.*1058T>C) | |
2 | g.15945825T>G | CA345932320 | MYCN | n.472T>G c.1123T>G (p.Ser375Ala) c.490T>G (p.Ser164Ala) c.*1058T>G (n.*1058T>G) | ClinVar |
2 | g.15945826C>A | CA345932322 | MYCN | n.473C>A c.1124C>A (p.Ser375Tyr) c.491C>A (p.Ser164Tyr) c.*1059C>A (n.*1059C>A) | |
2 | g.15945826C= | CA2491131201 | MYCN | n.473C= c.1124C= (p.Ser375=) c.491C= (p.Ser164=) c.*1059C= (n.*1059C=) | |
2 | g.15945826C>G | CA345932323 | MYCN | n.473C>G c.1124C>G (p.Ser375Cys) c.491C>G (p.Ser164Cys) c.*1059C>G (n.*1059C>G) | dbSNP |
2 | g.15945826C>T | CA345932324 | MYCN | n.473C>T c.1124C>T (p.Ser375Phe) c.491C>T (p.Ser164Phe) c.*1059C>T (n.*1059C>T) | dbSNP gnomAD v2 |
2 | g.15945827T>A | CA425092883 | MYCN | n.474T>A c.1125T>A (p.Ser375=) c.492T>A (p.Ser164=) c.*1060T>A (n.*1060T>A) | |
2 | g.15945827T>C | CA425092884 | MYCN | n.474T>C c.1125T>C (p.Ser375=) c.492T>C (p.Ser164=) c.*1060T>C (n.*1060T>C) | |
2 | g.15945827T>G | CA425092885 | MYCN | n.474T>G c.1125T>G (p.Ser375=) c.492T>G (p.Ser164=) c.*1060T>G (n.*1060T>G) | |
2 | g.15945827dup | CA2576682127 | MYCN | n.474dup c.1125dup (p.Asp376Ter) c.492dup (p.Asp165Ter) c.*1060dup (n.*1060dup) | |
2 | g.15945828G>A | CA345932326 | MYCN | n.475G>A c.1126G>A (p.Asp376Asn) c.493G>A (p.Asp165Asn) c.*1061G>A (n.*1061G>A) | |
2 | g.15945828G>C | CA345932325 | MYCN | n.475G>C c.1126G>C (p.Asp376His) c.493G>C (p.Asp165His) c.*1061G>C (n.*1061G>C) | dbSNP |
2 | g.15945828G>T | CA345932327 | MYCN | n.475G>T c.1126G>T (p.Asp376Tyr) c.493G>T (p.Asp165Tyr) c.*1061G>T (n.*1061G>T) | |
2 | g.15945829A>C | CA345932328 | MYCN | n.476A>C c.1127A>C (p.Asp376Ala) c.494A>C (p.Asp165Ala) c.*1062A>C (n.*1062A>C) | |
2 | g.15945829A>G | CA345932329 | MYCN | n.476A>G c.1127A>G (p.Asp376Gly) c.494A>G (p.Asp165Gly) c.*1062A>G (n.*1062A>G) | dbSNP |
2 | g.15945829A>T | CA345932330 | MYCN | n.476A>T c.1127A>T (p.Asp376Val) c.494A>T (p.Asp165Val) c.*1062A>T (n.*1062A>T) | |
2 | g.15945829_15945830insGT | CA2576682128 | MYCN | n.476_477insGT c.1127_1128insGT (p.Asp376GlufsTer?) c.494_495insGT (p.Asp165GlufsTer?) c.*1062_*1063insGT (n.*1062_*1063insGT) | |
2 | g.15945830C>A | CA345932331 | MYCN | n.477C>A c.1128C>A (p.Asp376Glu) c.495C>A (p.Asp165Glu) c.*1063C>A (n.*1063C>A) | |
2 | g.15945830C= | CA2491131202 | MYCN | n.477C= c.1128C= (p.Asp376=) c.495C= (p.Asp165=) c.*1063C= (n.*1063C=) | |
2 | g.15945830C>G | CA345932332 | MYCN | n.477C>G c.1128C>G (p.Asp376Glu) c.495C>G (p.Asp165Glu) c.*1063C>G (n.*1063C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15945830C>T | CA425092887 | MYCN | n.477C>T c.1128C>T (p.Asp376=) c.495C>T (p.Asp165=) c.*1063C>T (n.*1063C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15945831T>A | CA345932333 | MYCN | n.478T>A c.1129T>A (p.Ser377Thr) c.496T>A (p.Ser166Thr) c.*1064T>A (n.*1064T>A) | dbSNP |
2 | g.15945831T>C | CA345932334 | MYCN | n.478T>C c.1129T>C (p.Ser377Pro) c.496T>C (p.Ser166Pro) c.*1064T>C (n.*1064T>C) | |
2 | g.15945831T>G | CA345932335 | MYCN | n.478T>G c.1129T>G (p.Ser377Ala) c.496T>G (p.Ser166Ala) c.*1064T>G (n.*1064T>G) | |
2 | g.15945832C>A | CA345932336 | MYCN | n.479C>A c.1130C>A (p.Ser377Ter) c.497C>A (p.Ser166Ter) c.*1065C>A (n.*1065C>A) | |
2 | g.15945832C= | CA2491131203 | MYCN | n.479C= c.1130C= (p.Ser377=) c.497C= (p.Ser166=) c.*1065C= (n.*1065C=) | |
2 | g.15945832C>G | CA345932337 | MYCN | n.479C>G c.1130C>G (p.Ser377Trp) c.497C>G (p.Ser166Trp) c.*1065C>G (n.*1065C>G) | dbSNP gnomAD v4 |
2 | g.15945832C>T | CA345932338 | MYCN | n.479C>T c.1130C>T (p.Ser377Leu) c.497C>T (p.Ser166Leu) c.*1065C>T (n.*1065C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15945832_15945833delinsCG | CA2491131204 | MYCN | n.479_480delinsCG c.1130_1131delinsCG (p.Ser377=) c.497_498delinsCG (p.Ser166=) c.*1065_*1066delinsCG (n.*1065_*1066delinsCG) | |
2 | g.15945833G>A | CA43192491 | MYCN | n.480G>A c.1131G>A (p.Ser377=) c.498G>A (p.Ser166=) c.*1066G>A (n.*1066G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945833G>C | CA425092890 | MYCN | n.480G>C c.1131G>C (p.Ser377=) c.498G>C (p.Ser166=) c.*1066G>C (n.*1066G>C) | dbSNP |
2 | g.15945833G= | CA2491131205 | MYCN | n.480G= c.1131G= (p.Ser377=) c.498G= (p.Ser166=) c.*1066G= (n.*1066G=) | |
2 | g.15945833G>T | CA425092891 | MYCN | n.480G>T c.1131G>T (p.Ser377=) c.498G>T (p.Ser166=) c.*1066G>T (n.*1066G>T) | dbSNP |
2 | g.15945834del | CA531315909 | MYCN | n.481del c.1132del (p.Glu378ArgfsTer?) c.499del (p.Glu167ArgfsTer?) c.*1067del (n.*1067del) | ClinVar dbSNP gnomAD v2 |
2 | g.15945834G>A | CA345932341 | MYCN | n.481G>A c.1132G>A (p.Glu378Lys) c.499G>A (p.Glu167Lys) c.*1067G>A (n.*1067G>A) | COSMIC |
2 | g.15945834G>C | CA345932339 | MYCN | n.481G>C c.1132G>C (p.Glu378Gln) c.499G>C (p.Glu167Gln) c.*1067G>C (n.*1067G>C) | |
2 | g.15945834G>T | CA345932340 | MYCN | n.481G>T c.1132G>T (p.Glu378Ter) c.499G>T (p.Glu167Ter) c.*1067G>T (n.*1067G>T) | COSMIC |
2 | g.15945835_15945836insAGTCAGA | CA916481312 | MYCN | n.482_483insAGTCAGA c.1133_1134insAGTCAGA (p.Asp379ValfsTer5) c.500_501insAGTCAGA (p.Asp168ValfsTer5) c.*1068_*1069insAGTCAGA (n.*1068_*1069insAGTCAGA) | dbSNP |
2 | g.15945835A>C | CA345932342 | MYCN | n.482A>C c.1133A>C (p.Glu378Ala) c.500A>C (p.Glu167Ala) c.*1068A>C (n.*1068A>C) | |
2 | g.15945835A>G | CA345932343 | MYCN | n.482A>G c.1133A>G (p.Glu378Gly) c.500A>G (p.Glu167Gly) c.*1068A>G (n.*1068A>G) | dbSNP |
2 | g.15945835A>T | CA345932344 | MYCN | n.482A>T c.1133A>T (p.Glu378Val) c.500A>T (p.Glu167Val) c.*1068A>T (n.*1068A>T) | |
2 | g.15945835_15945846dup | CA1027884861 | MYCN | n.482_493dup c.1133_1144dup (p.Glu381_Arg382insGlnAspSerGlu) c.500_511dup (p.Glu170_Arg171insGlnAspSerGlu) c.*1068_*1079dup (n.*1068_*1079dup) | gnomAD v3 gnomAD v4 |
2 | g.15945836G>A | CA425092892 | MYCN | n.483G>A c.1134G>A (p.Glu378=) c.501G>A (p.Glu167=) c.*1069G>A (n.*1069G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945836G>C | CA345932345 | MYCN | n.483G>C c.1134G>C (p.Glu378Asp) c.501G>C (p.Glu167Asp) c.*1069G>C (n.*1069G>C) | |
2 | g.15945836G= | CA2491131206 | MYCN | n.483G= c.1134G= (p.Glu378=) c.501G= (p.Glu167=) c.*1069G= (n.*1069G=) | |
2 | g.15945836G>T | CA345932346 | MYCN | n.483G>T c.1134G>T (p.Glu378Asp) c.501G>T (p.Glu167Asp) c.*1069G>T (n.*1069G>T) | |
2 | g.15945837G>A | CA345932347 | MYCN | n.484G>A c.1135G>A (p.Asp379Asn) c.502G>A (p.Asp168Asn) c.*1070G>A (n.*1070G>A) | |
2 | g.15945837G>C | CA345932348 | MYCN | n.484G>C c.1135G>C (p.Asp379His) c.502G>C (p.Asp168His) c.*1070G>C (n.*1070G>C) | |
2 | g.15945837G>T | CA345932349 | MYCN | n.484G>T c.1135G>T (p.Asp379Tyr) c.502G>T (p.Asp168Tyr) c.*1070G>T (n.*1070G>T) | gnomAD v4 |
2 | g.15945838A>C | CA345932350 | MYCN | n.485A>C c.1136A>C (p.Asp379Ala) c.503A>C (p.Asp168Ala) c.*1071A>C (n.*1071A>C) | |
2 | g.15945838A>G | CA345932351 | MYCN | n.485A>G c.1136A>G (p.Asp379Gly) c.503A>G (p.Asp168Gly) c.*1071A>G (n.*1071A>G) | COSMIC |
2 | g.15945838A>T | CA345932352 | MYCN | n.485A>T c.1136A>T (p.Asp379Val) c.503A>T (p.Asp168Val) c.*1071A>T (n.*1071A>T) | |
2 | g.15945839C>A | CA345932354 | MYCN | n.486C>A c.1137C>A (p.Asp379Glu) c.504C>A (p.Asp168Glu) c.*1072C>A (n.*1072C>A) | |
2 | g.15945839C= | CA2491131207 | MYCN | n.486C= c.1137C= (p.Asp379=) c.504C= (p.Asp168=) c.*1072C= (n.*1072C=) | |
2 | g.15945839C>G | CA345932353 | MYCN | n.486C>G c.1137C>G (p.Asp379Glu) c.504C>G (p.Asp168Glu) c.*1072C>G (n.*1072C>G) | dbSNP |
2 | g.15945839C>T | CA1538322 | MYCN | n.486C>T c.1137C>T (p.Asp379=) c.504C>T (p.Asp168=) c.*1072C>T (n.*1072C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
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.15945840A>C | CA345932355 | MYCN | n.487A>C c.1138A>C (p.Ser380Arg) c.505A>C (p.Ser169Arg) c.*1073A>C (n.*1073A>C) | |
2 | g.15945840A>G | CA345932356 | MYCN | n.487A>G c.1138A>G (p.Ser380Gly) c.505A>G (p.Ser169Gly) c.*1073A>G (n.*1073A>G) | |
2 | g.15945840A>T | CA345932357 | MYCN | n.487A>T c.1138A>T (p.Ser380Cys) c.505A>T (p.Ser169Cys) c.*1073A>T (n.*1073A>T) | |
2 | g.15945841G>A | CA43192492 | MYCN | n.488G>A c.1139G>A (p.Ser380Asn) c.506G>A (p.Ser169Asn) c.*1074G>A (n.*1074G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945841G>C | CA345932358 | MYCN | n.488G>C c.1139G>C (p.Ser380Thr) c.506G>C (p.Ser169Thr) c.*1074G>C (n.*1074G>C) | |
2 | g.15945841G= | CA2491131208 | MYCN | n.488G= c.1139G= (p.Ser380=) c.506G= (p.Ser169=) c.*1074G= (n.*1074G=) | |
2 | g.15945841G>T | CA345932359 | MYCN | n.488G>T c.1139G>T (p.Ser380Ile) c.506G>T (p.Ser169Ile) c.*1074G>T (n.*1074G>T) | |
2 | g.15945842T>A | CA345932360 | MYCN | n.489T>A c.1140T>A (p.Ser380Arg) c.507T>A (p.Ser169Arg) c.*1075T>A (n.*1075T>A) | |
2 | g.15945842T>C | CA425092898 | MYCN | n.489T>C c.1140T>C (p.Ser380=) c.507T>C (p.Ser169=) c.*1075T>C (n.*1075T>C) | |
2 | g.15945842T>G | CA345932361 | MYCN | n.489T>G c.1140T>G (p.Ser380Arg) c.507T>G (p.Ser169Arg) c.*1075T>G (n.*1075T>G) | dbSNP |
2 | g.15945843G>A | CA345932362 | MYCN | n.490G>A c.1141G>A (p.Glu381Lys) c.508G>A (p.Glu170Lys) c.*1076G>A (n.*1076G>A) | |
2 | g.15945843G>C | CA345932363 | MYCN | n.490G>C c.1141G>C (p.Glu381Gln) c.508G>C (p.Glu170Gln) c.*1076G>C (n.*1076G>C) | |
2 | g.15945843G= | CA2491131209 | MYCN | n.490G= c.1141G= (p.Glu381=) c.508G= (p.Glu170=) c.*1076G= (n.*1076G=) | |
2 | g.15945843G>T | CA345932364 | MYCN | n.490G>T c.1141G>T (p.Glu381Ter) c.508G>T (p.Glu170Ter) c.*1076G>T (n.*1076G>T) | |
2 | g.15945844A>C | CA345932367 | MYCN | n.491A>C c.1142A>C (p.Glu381Ala) c.509A>C (p.Glu170Ala) c.*1077A>C (n.*1077A>C) | |
2 | g.15945844A>G | CA345932366 | MYCN | n.491A>G c.1142A>G (p.Glu381Gly) c.509A>G (p.Glu170Gly) c.*1077A>G (n.*1077A>G) | dbSNP |
2 | g.15945844A>T | CA345932365 | MYCN | n.491A>T c.1142A>T (p.Glu381Val) c.509A>T (p.Glu170Val) c.*1077A>T (n.*1077A>T) | |
2 | g.15945844_15945846dup | CA1538323 | MYCN | n.491_493dup c.1142_1144dup (p.Glu381_Arg382insGln) c.509_511dup (p.Glu170_Arg171insGln) c.*1077_*1079dup (n.*1077_*1079dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15945845G>A | CA1538324 | MYCN | n.492G>A c.1143G>A (p.Glu381=) c.510G>A (p.Glu170=) c.*1078G>A (n.*1078G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15945845G>C | CA345932368 | MYCN | n.492G>C c.1143G>C (p.Glu381Asp) c.510G>C (p.Glu170Asp) c.*1078G>C (n.*1078G>C) | |
2 | g.15945845G= | CA2491131210 | MYCN | n.492G= c.1143G= (p.Glu381=) c.510G= (p.Glu170=) c.*1078G= (n.*1078G=) | |
2 | g.15945845G>T | CA345932369 | MYCN | n.492G>T c.1143G>T (p.Glu381Asp) c.510G>T (p.Glu170Asp) c.*1078G>T (n.*1078G>T) | |
2 | g.15945846C>A | CA345932370 | MYCN | n.493C>A c.1144C>A (p.Arg382Ser) c.511C>A (p.Arg171Ser) c.*1079C>A (n.*1079C>A) | |
2 | g.15945846C= | CA2491131211 | MYCN | n.493C= c.1144C= (p.Arg382=) c.511C= (p.Arg171=) c.*1079C= (n.*1079C=) | |
2 | g.15945846C>G | CA345932371 | MYCN | n.493C>G c.1144C>G (p.Arg382Gly) c.511C>G (p.Arg171Gly) c.*1079C>G (n.*1079C>G) | |
2 | g.15945846C>T | CA1538325 | MYCN | n.493C>T c.1144C>T (p.Arg382Cys) c.511C>T (p.Arg171Cys) c.*1079C>T (n.*1079C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
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 |
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 |