Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.15945709C>A | CA345932074 | MYCN | n.356C>A c.1007C>A (p.Ser336Tyr) c.374C>A (p.Ser125Tyr) c.*942C>A (n.*942C>A) | |
2 | g.15945709C>G | CA345932073 | MYCN | n.356C>G c.1007C>G (p.Ser336Cys) c.374C>G (p.Ser125Cys) c.*942C>G (n.*942C>G) | |
2 | g.15945709C>T | CA345932072 | MYCN | n.356C>T c.1007C>T (p.Ser336Phe) c.374C>T (p.Ser125Phe) c.*942C>T (n.*942C>T) | COSMIC |
2 | g.15945710T>A | CA425092570 | MYCN | n.357T>A c.1008T>A (p.Ser336=) c.375T>A (p.Ser125=) c.*943T>A (n.*943T>A) | |
2 | g.15945710T>C | CA425092571 | MYCN | n.357T>C c.1008T>C (p.Ser336=) c.375T>C (p.Ser125=) c.*943T>C (n.*943T>C) | |
2 | g.15945710T>G | CA425092572 | MYCN | n.357T>G c.1008T>G (p.Ser336=) c.375T>G (p.Ser125=) c.*943T>G (n.*943T>G) | |
2 | g.15945711C>A | CA345932075 | MYCN | n.358C>A c.1009C>A (p.Pro337Thr) c.376C>A (p.Pro126Thr) c.*944C>A (n.*944C>A) | ClinVar dbSNP |
2 | g.15945711C= | CA2491131143 | MYCN | n.358C= c.1009C= (p.Pro337=) c.376C= (p.Pro126=) c.*944C= (n.*944C=) | |
2 | g.15945711C>G | CA345932076 | MYCN | n.358C>G c.1009C>G (p.Pro337Ala) c.376C>G (p.Pro126Ala) c.*944C>G (n.*944C>G) | |
2 | g.15945711C>T | CA345932077 | MYCN | n.358C>T c.1009C>T (p.Pro337Ser) c.376C>T (p.Pro126Ser) c.*944C>T (n.*944C>T) | COSMIC |
2 | g.15945712C>A | CA345932078 | MYCN | n.359C>A c.1010C>A (p.Pro337His) c.377C>A (p.Pro126His) c.*945C>A (n.*945C>A) | |
2 | g.15945712C= | CA2491131144 | MYCN | n.359C= c.1010C= (p.Pro337=) c.377C= (p.Pro126=) c.*945C= (n.*945C=) | |
2 | g.15945712C>G | CA345932079 | MYCN | n.359C>G c.1010C>G (p.Pro337Arg) c.377C>G (p.Pro126Arg) c.*945C>G (n.*945C>G) | |
2 | g.15945712C>T | CA345932080 | MYCN | n.359C>T c.1010C>T (p.Pro337Leu) c.377C>T (p.Pro126Leu) c.*945C>T (n.*945C>T) | dbSNP |
2 | g.15945713C>A | CA425092573 | MYCN | n.360C>A c.1011C>A (p.Pro337=) c.378C>A (p.Pro126=) c.*946C>A (n.*946C>A) | |
2 | g.15945713C>G | CA425092574 | MYCN | n.360C>G c.1011C>G (p.Pro337=) c.378C>G (p.Pro126=) c.*946C>G (n.*946C>G) | gnomAD v3 gnomAD v4 |
2 | g.15945713C>T | CA425092575 | MYCN | n.360C>T c.1011C>T (p.Pro337=) c.378C>T (p.Pro126=) c.*946C>T (n.*946C>T) | |
2 | g.15945714T>A | CA345932081 | MYCN | n.361T>A c.1012T>A (p.Tyr338Asn) c.379T>A (p.Tyr127Asn) c.*947T>A (n.*947T>A) | |
2 | g.15945714T>C | CA345932083 | MYCN | n.361T>C c.1012T>C (p.Tyr338His) c.379T>C (p.Tyr127His) c.*947T>C (n.*947T>C) | |
2 | g.15945714T>G | CA345932082 | MYCN | n.361T>G c.1012T>G (p.Tyr338Asp) c.379T>G (p.Tyr127Asp) c.*947T>G (n.*947T>G) | |
2 | g.15945715A= | CA2491131145 | MYCN | n.362A= c.1013A= (p.Tyr338=) c.380A= (p.Tyr127=) c.*948A= (n.*948A=) | |
2 | g.15945715A>C | CA345932084 | MYCN | n.362A>C c.1013A>C (p.Tyr338Ser) c.380A>C (p.Tyr127Ser) c.*948A>C (n.*948A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945715A>G | CA345932085 | MYCN | n.362A>G c.1013A>G (p.Tyr338Cys) c.380A>G (p.Tyr127Cys) c.*948A>G (n.*948A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15945715A>T | CA345932086 | MYCN | n.362A>T c.1013A>T (p.Tyr338Phe) c.380A>T (p.Tyr127Phe) c.*948A>T (n.*948A>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15945716C>A | CA345932087 | MYCN | n.363C>A c.1014C>A (p.Tyr338Ter) c.381C>A (p.Tyr127Ter) c.*949C>A (n.*949C>A) | ClinVar dbSNP |
2 | g.15945716C= | CA2491131146 | MYCN | n.363C= c.1014C= (p.Tyr338=) c.381C= (p.Tyr127=) c.*949C= (n.*949C=) | |
2 | g.15945716C>G | CA345932088 | MYCN | n.363C>G c.1014C>G (p.Tyr338Ter) c.381C>G (p.Tyr127Ter) c.*949C>G (n.*949C>G) | dbSNP |
2 | g.15945716C>T | CA1538296 | MYCN | n.363C>T c.1014C>T (p.Tyr338=) c.381C>T (p.Tyr127=) c.*949C>T (n.*949C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945717G>A | CA43192483 | MYCN | n.364G>A c.1015G>A (p.Val339Met) c.382G>A (p.Val128Met) c.*950G>A (n.*950G>A) | dbSNP gnomAD v4 |
2 | g.15945717G>C | CA345932089 | MYCN | n.364G>C c.1015G>C (p.Val339Leu) c.382G>C (p.Val128Leu) c.*950G>C (n.*950G>C) | dbSNP |
2 | g.15945717G= | CA2491131147 | MYCN | n.364G= c.1015G= (p.Val339=) c.382G= (p.Val128=) c.*950G= (n.*950G=) | |
2 | g.15945717G>T | CA1538297 | MYCN | n.364G>T c.1015G>T (p.Val339Leu) c.382G>T (p.Val128Leu) c.*950G>T (n.*950G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945718T>A | CA345932090 | MYCN | n.365T>A c.1016T>A (p.Val339Glu) c.383T>A (p.Val128Glu) c.*951T>A (n.*951T>A) | dbSNP |
2 | g.15945718T>C | CA345932091 | MYCN | n.365T>C c.1016T>C (p.Val339Ala) c.383T>C (p.Val128Ala) c.*951T>C (n.*951T>C) | |
2 | g.15945718T>G | CA345932092 | MYCN | n.365T>G c.1016T>G (p.Val339Gly) c.383T>G (p.Val128Gly) c.*951T>G (n.*951T>G) | |
2 | g.15945719G>A | CA1538298 | MYCN | n.366G>A c.1017G>A (p.Val339=) c.384G>A (p.Val128=) c.*952G>A (n.*952G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.15945719G>C | CA425092580 | MYCN | n.366G>C c.1017G>C (p.Val339=) c.384G>C (p.Val128=) c.*952G>C (n.*952G>C) | |
2 | g.15945719G= | CA2491131148 | MYCN | n.366G= c.1017G= (p.Val339=) c.384G= (p.Val128=) c.*952G= (n.*952G=) | |
2 | g.15945719G>T | CA425092581 | MYCN | n.366G>T c.1017G>T (p.Val339=) c.384G>T (p.Val128=) c.*952G>T (n.*952G>T) | |
2 | g.15945720G>A | CA345932094 | MYCN | n.367G>A c.1018G>A (p.Glu340Lys) c.385G>A (p.Glu129Lys) c.*953G>A (n.*953G>A) | |
2 | g.15945720G>C | CA345932093 | MYCN | n.367G>C c.1018G>C (p.Glu340Gln) c.385G>C (p.Glu129Gln) c.*953G>C (n.*953G>C) | |
2 | g.15945720G>T | CA345932095 | MYCN | n.367G>T c.1018G>T (p.Glu340Ter) c.385G>T (p.Glu129Ter) c.*953G>T (n.*953G>T) | |
2 | g.15945721A>C | CA345932096 | MYCN | n.368A>C c.1019A>C (p.Glu340Ala) c.386A>C (p.Glu129Ala) c.*954A>C (n.*954A>C) | |
2 | g.15945721A>G | CA345932098 | MYCN | n.368A>G c.1019A>G (p.Glu340Gly) c.386A>G (p.Glu129Gly) c.*954A>G (n.*954A>G) | |
2 | g.15945721A>T | CA345932097 | MYCN | n.368A>T c.1019A>T (p.Glu340Val) c.386A>T (p.Glu129Val) c.*954A>T (n.*954A>T) | |
2 | g.15945722G>A | CA425092583 | MYCN | n.369G>A c.1020G>A (p.Glu340=) c.387G>A (p.Glu129=) c.*955G>A (n.*955G>A) | |
2 | g.15945722G>C | CA345932099 | MYCN | n.369G>C c.1020G>C (p.Glu340Asp) c.387G>C (p.Glu129Asp) c.*955G>C (n.*955G>C) | |
2 | g.15945722G= | CA2491131149 | MYCN | n.369G= c.1020G= (p.Glu340=) c.387G= (p.Glu129=) c.*955G= (n.*955G=) | |
2 | g.15945722G>T | CA345932100 | MYCN | n.369G>T c.1020G>T (p.Glu340Asp) c.387G>T (p.Glu129Asp) c.*955G>T (n.*955G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15945723A>C | CA345932101 | MYCN | n.370A>C c.1021A>C (p.Ser341Arg) c.388A>C (p.Ser130Arg) c.*956A>C (n.*956A>C) | |
2 | g.15945723A>G | CA345932102 | MYCN | n.370A>G c.1021A>G (p.Ser341Gly) c.388A>G (p.Ser130Gly) c.*956A>G (n.*956A>G) | |
2 | g.15945723A>T | CA345932103 | MYCN | n.370A>T c.1021A>T (p.Ser341Cys) c.388A>T (p.Ser130Cys) c.*956A>T (n.*956A>T) | |
2 | g.15945724G>A | CA1538299 | MYCN | n.371G>A c.1022G>A (p.Ser341Asn) c.389G>A (p.Ser130Asn) c.*957G>A (n.*957G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15945724G>C | CA345932104 | MYCN | n.371G>C c.1022G>C (p.Ser341Thr) c.389G>C (p.Ser130Thr) c.*957G>C (n.*957G>C) | |
2 | g.15945724G= | CA2491131150 | MYCN | n.371G= c.1022G= (p.Ser341=) c.389G= (p.Ser130=) c.*957G= (n.*957G=) | |
2 | g.15945724G>T | CA345932105 | MYCN | n.371G>T c.1022G>T (p.Ser341Ile) c.389G>T (p.Ser130Ile) c.*957G>T (n.*957G>T) | |
2 | g.15945725T>A | CA345932106 | MYCN | n.372T>A c.1023T>A (p.Ser341Arg) c.390T>A (p.Ser130Arg) c.*958T>A (n.*958T>A) | dbSNP |
2 | g.15945725T>C | CA425092586 | MYCN | n.372T>C c.1023T>C (p.Ser341=) c.390T>C (p.Ser130=) c.*958T>C (n.*958T>C) | |
2 | g.15945725T>G | CA345932107 | MYCN | n.372T>G c.1023T>G (p.Ser341Arg) c.390T>G (p.Ser130Arg) c.*958T>G (n.*958T>G) | |
2 | g.15945725T= | CA2491131151 | MYCN | n.372T= c.1023T= (p.Ser341=) c.390T= (p.Ser130=) c.*958T= (n.*958T=) | |
2 | g.15945726G>A | CA345932108 | MYCN | n.373G>A c.1024G>A (p.Glu342Lys) c.391G>A (p.Glu131Lys) c.*959G>A (n.*959G>A) | |
2 | g.15945726G>C | CA345932109 | MYCN | n.373G>C c.1024G>C (p.Glu342Gln) c.391G>C (p.Glu131Gln) c.*959G>C (n.*959G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15945726G= | CA2491131152 | MYCN | n.373G= c.1024G= (p.Glu342=) c.391G= (p.Glu131=) c.*959G= (n.*959G=) | |
2 | g.15945726G>T | CA345932110 | MYCN | n.373G>T c.1024G>T (p.Glu342Ter) c.391G>T (p.Glu131Ter) c.*959G>T (n.*959G>T) | |
2 | g.15945727A= | CA2491131153 | MYCN | n.374A= c.1025A= (p.Glu342=) c.392A= (p.Glu131=) c.*960A= (n.*960A=) | |
2 | g.15945727A>C | CA345932113 | MYCN | n.374A>C c.1025A>C (p.Glu342Ala) c.392A>C (p.Glu131Ala) c.*960A>C (n.*960A>C) | |
2 | g.15945727A>G | CA345932112 | MYCN | n.374A>G c.1025A>G (p.Glu342Gly) c.392A>G (p.Glu131Gly) c.*960A>G (n.*960A>G) | dbSNP |
2 | g.15945727A>T | CA345932111 | MYCN | n.374A>T c.1025A>T (p.Glu342Val) c.392A>T (p.Glu131Val) c.*960A>T (n.*960A>T) | |
2 | g.15945728G>A | CA425092591 | MYCN | n.375G>A c.1026G>A (p.Glu342=) c.393G>A (p.Glu131=) c.*961G>A (n.*961G>A) | dbSNP |
2 | g.15945728G>C | CA345932114 | MYCN | n.375G>C c.1026G>C (p.Glu342Asp) c.393G>C (p.Glu131Asp) c.*961G>C (n.*961G>C) | |
2 | g.15945728G= | CA2491131154 | MYCN | n.375G= c.1026G= (p.Glu342=) c.393G= (p.Glu131=) c.*961G= (n.*961G=) | |
2 | g.15945728G>T | CA1538300 | MYCN | n.375G>T c.1026G>T (p.Glu342Asp) c.393G>T (p.Glu131Asp) c.*961G>T (n.*961G>T) | dbSNP ExAC gnomAD v2 |
2 | g.15945729G>A | CA345932115 | MYCN | n.376G>A c.1027G>A (p.Asp343Asn) c.394G>A (p.Asp132Asn) c.*962G>A (n.*962G>A) | |
2 | g.15945729G>C | CA345932116 | MYCN | n.376G>C c.1027G>C (p.Asp343His) c.394G>C (p.Asp132His) c.*962G>C (n.*962G>C) | |
2 | g.15945729G>T | CA345932117 | MYCN | n.376G>T c.1027G>T (p.Asp343Tyr) c.394G>T (p.Asp132Tyr) c.*962G>T (n.*962G>T) | |
2 | g.15945730A= | CA2491131155 | MYCN | n.377A= c.1028A= (p.Asp343=) c.395A= (p.Asp132=) c.*963A= (n.*963A=) | |
2 | g.15945730A>C | CA345932118 | MYCN | n.377A>C c.1028A>C (p.Asp343Ala) c.395A>C (p.Asp132Ala) c.*963A>C (n.*963A>C) | |
2 | g.15945730A>G | CA345932119 | MYCN | n.377A>G c.1028A>G (p.Asp343Gly) c.395A>G (p.Asp132Gly) c.*963A>G (n.*963A>G) | dbSNP |
2 | g.15945730A>T | CA345932120 | MYCN | n.377A>T c.1028A>T (p.Asp343Val) c.395A>T (p.Asp132Val) c.*963A>T (n.*963A>T) | |
2 | g.15945731T>A | CA345932121 | MYCN | n.378T>A c.1029T>A (p.Asp343Glu) c.396T>A (p.Asp132Glu) c.*964T>A (n.*964T>A) | |
2 | g.15945731T>C | CA425092724 | MYCN | n.378T>C c.1029T>C (p.Asp343=) c.396T>C (p.Asp132=) c.*964T>C (n.*964T>C) | |
2 | g.15945731T>G | CA345932122 | MYCN | n.378T>G c.1029T>G (p.Asp343Glu) c.396T>G (p.Asp132Glu) c.*964T>G (n.*964T>G) | |
2 | g.15945732G>A | CA345932123 | MYCN | n.379G>A c.1030G>A (p.Ala344Thr) c.397G>A (p.Ala133Thr) c.*965G>A (n.*965G>A) | dbSNP gnomAD v4 |
2 | g.15945732G>C | CA345932124 | MYCN | n.379G>C c.1030G>C (p.Ala344Pro) c.397G>C (p.Ala133Pro) c.*965G>C (n.*965G>C) | |
2 | g.15945732G= | CA2491131156 | MYCN | n.379G= c.1030G= (p.Ala344=) c.397G= (p.Ala133=) c.*965G= (n.*965G=) | |
2 | g.15945732G>T | CA345932125 | MYCN | n.379G>T c.1030G>T (p.Ala344Ser) c.397G>T (p.Ala133Ser) c.*965G>T (n.*965G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15945733C>A | CA345932126 | MYCN | n.380C>A c.1031C>A (p.Ala344Glu) c.398C>A (p.Ala133Glu) c.*966C>A (n.*966C>A) | |
2 | g.15945733C= | CA2491131157 | MYCN | n.380C= c.1031C= (p.Ala344=) c.398C= (p.Ala133=) c.*966C= (n.*966C=) | |
2 | g.15945733C>G | CA345932127 | MYCN | n.380C>G c.1031C>G (p.Ala344Gly) c.398C>G (p.Ala133Gly) c.*966C>G (n.*966C>G) | gnomAD v4 |
2 | g.15945733C>T | CA1538301 | MYCN | n.380C>T c.1031C>T (p.Ala344Val) c.398C>T (p.Ala133Val) c.*966C>T (n.*966C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945734A= | CA2491131158 | MYCN | n.381A= c.1032A= (p.Ala344=) c.399A= (p.Ala133=) c.*967A= (n.*967A=) | |
2 | g.15945734A>C | CA425092731 | MYCN | n.381A>C c.1032A>C (p.Ala344=) c.399A>C (p.Ala133=) c.*967A>C (n.*967A>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15945734A>G | CA425092732 | MYCN | n.381A>G c.1032A>G (p.Ala344=) c.399A>G (p.Ala133=) c.*967A>G (n.*967A>G) | |
2 | g.15945734A>T | CA425092733 | MYCN | n.381A>T c.1032A>T (p.Ala344=) c.399A>T (p.Ala133=) c.*967A>T (n.*967A>T) | |
2 | g.15945735C>A | CA345932128 | MYCN | n.382C>A c.1033C>A (p.Pro345Thr) c.400C>A (p.Pro134Thr) c.*968C>A (n.*968C>A) | dbSNP COSMIC |
2 | g.15945735C= | CA2491131159 | MYCN | n.382C= c.1033C= (p.Pro345=) c.400C= (p.Pro134=) c.*968C= (n.*968C=) | |
2 | g.15945735C>G | CA345932129 | MYCN | n.382C>G c.1033C>G (p.Pro345Ala) c.400C>G (p.Pro134Ala) c.*968C>G (n.*968C>G) | gnomAD v4 |
2 | g.15945735C>T | CA43192484 | MYCN | n.382C>T c.1033C>T (p.Pro345Ser) c.400C>T (p.Pro134Ser) c.*968C>T (n.*968C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15945739dup | CA1139656755 | MYCN | n.386dup c.1037dup (p.Gln347ThrfsTer22) c.404dup (p.Gln136ThrfsTer22) c.*972dup (n.*972dup) | ClinVar dbSNP |
2 | g.15945739del | CA2698501408 | MYCN | n.386del c.1037del (p.Pro346HisfsTer5) c.404del (p.Pro135HisfsTer5) c.*972del (n.*972del) | ClinVar dbSNP |
2 | g.15945736C>A | CA345932130 | MYCN | n.383C>A c.1034C>A (p.Pro345His) c.401C>A (p.Pro134His) c.*969C>A (n.*969C>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15945736C= | CA2491131160 | MYCN | n.383C= c.1034C= (p.Pro345=) c.401C= (p.Pro134=) c.*969C= (n.*969C=) | |
2 | g.15945736C>G | CA345932131 | MYCN | n.383C>G c.1034C>G (p.Pro345Arg) c.401C>G (p.Pro134Arg) c.*969C>G (n.*969C>G) | dbSNP |
2 | g.15945736C>T | CA345932132 | MYCN | n.383C>T c.1034C>T (p.Pro345Leu) c.401C>T (p.Pro134Leu) c.*969C>T (n.*969C>T) | dbSNP gnomAD v4 |
2 | g.15945737C>A | CA425092742 | MYCN | n.384C>A c.1035C>A (p.Pro345=) c.402C>A (p.Pro134=) c.*970C>A (n.*970C>A) | dbSNP |
2 | g.15945737C>G | CA425092744 | MYCN | n.384C>G c.1035C>G (p.Pro345=) c.402C>G (p.Pro134=) c.*970C>G (n.*970C>G) | |
2 | g.15945737C>T | CA425092745 | MYCN | n.384C>T c.1035C>T (p.Pro345=) c.402C>T (p.Pro134=) c.*970C>T (n.*970C>T) | |
2 | g.15945738C>A | CA345932133 | MYCN | n.385C>A c.1036C>A (p.Pro346Thr) c.403C>A (p.Pro135Thr) c.*971C>A (n.*971C>A) | dbSNP |
2 | g.15945738C>G | CA345932134 | MYCN | n.385C>G c.1036C>G (p.Pro346Ala) c.403C>G (p.Pro135Ala) c.*971C>G (n.*971C>G) | |
2 | g.15945738C>T | CA345932135 | MYCN | n.385C>T c.1036C>T (p.Pro346Ser) c.403C>T (p.Pro135Ser) c.*971C>T (n.*971C>T) | |
2 | g.15945739C>A | CA345932136 | MYCN | n.386C>A c.1037C>A (p.Pro346Gln) c.404C>A (p.Pro135Gln) c.*972C>A (n.*972C>A) | |
2 | g.15945739C>G | CA345932137 | MYCN | n.386C>G c.1037C>G (p.Pro346Arg) c.404C>G (p.Pro135Arg) c.*972C>G (n.*972C>G) | gnomAD v4 |
2 | g.15945739C>T | CA345932138 | MYCN | n.386C>T c.1037C>T (p.Pro346Leu) c.404C>T (p.Pro135Leu) c.*972C>T (n.*972C>T) | |
2 | g.15945740A>C | CA425092751 | MYCN | n.387A>C c.1038A>C (p.Pro346=) c.405A>C (p.Pro135=) c.*973A>C (n.*973A>C) | |
2 | g.15945740A>G | CA425092749 | MYCN | n.387A>G c.1038A>G (p.Pro346=) c.405A>G (p.Pro135=) c.*973A>G (n.*973A>G) | |
2 | g.15945740A>T | CA425092748 | MYCN | n.387A>T c.1038A>T (p.Pro346=) c.405A>T (p.Pro135=) c.*973A>T (n.*973A>T) | |
2 | g.15945741C>A | CA345932141 | MYCN | n.388C>A c.1039C>A (p.Gln347Lys) c.406C>A (p.Gln136Lys) c.*974C>A (n.*974C>A) | COSMIC |
2 | g.15945741C>G | CA345932139 | MYCN | n.388C>G c.1039C>G (p.Gln347Glu) c.406C>G (p.Gln136Glu) c.*974C>G (n.*974C>G) | |
2 | g.15945741C>T | CA345932140 | MYCN | n.388C>T c.1039C>T (p.Gln347Ter) c.406C>T (p.Gln136Ter) c.*974C>T (n.*974C>T) | |
2 | g.15945742A= | CA2491131161 | MYCN | n.389A= c.1040A= (p.Gln347=) c.407A= (p.Gln136=) c.*975A= (n.*975A=) | |
2 | g.15945742A>C | CA345932142 | MYCN | n.389A>C c.1040A>C (p.Gln347Pro) c.407A>C (p.Gln136Pro) c.*975A>C (n.*975A>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15945742A>G | CA345932143 | MYCN | n.389A>G c.1040A>G (p.Gln347Arg) c.407A>G (p.Gln136Arg) c.*975A>G (n.*975A>G) | dbSNP COSMIC |
2 | g.15945742A>T | CA345932144 | MYCN | n.389A>T c.1040A>T (p.Gln347Leu) c.407A>T (p.Gln136Leu) c.*975A>T (n.*975A>T) | |
2 | g.15945743G>A | CA425092760 | MYCN | n.390G>A c.1041G>A (p.Gln347=) c.408G>A (p.Gln136=) c.*976G>A (n.*976G>A) | |
2 | g.15945743G>C | CA345932145 | MYCN | n.390G>C c.1041G>C (p.Gln347His) c.408G>C (p.Gln136His) c.*976G>C (n.*976G>C) | |
2 | g.15945743G>T | CA345932146 | MYCN | n.390G>T c.1041G>T (p.Gln347His) c.408G>T (p.Gln136His) c.*976G>T (n.*976G>T) | |
2 | g.15945744A>C | CA345932147 | MYCN | n.391A>C c.1042A>C (p.Lys348Gln) c.409A>C (p.Lys137Gln) c.*977A>C (n.*977A>C) | |
2 | g.15945744A>G | CA345932148 | MYCN | n.391A>G c.1042A>G (p.Lys348Glu) c.409A>G (p.Lys137Glu) c.*977A>G (n.*977A>G) | COSMIC |
2 | g.15945744A>T | CA345932149 | MYCN | n.391A>T c.1042A>T (p.Lys348Ter) c.409A>T (p.Lys137Ter) c.*977A>T (n.*977A>T) | |
2 | g.15945745A>C | CA345932150 | MYCN | n.392A>C c.1043A>C (p.Lys348Thr) c.410A>C (p.Lys137Thr) c.*978A>C (n.*978A>C) | |
2 | g.15945745A>G | CA345932151 | MYCN | n.392A>G c.1043A>G (p.Lys348Arg) c.410A>G (p.Lys137Arg) c.*978A>G (n.*978A>G) | |
2 | g.15945745A>T | CA345932152 | MYCN | n.392A>T c.1043A>T (p.Lys348Met) c.410A>T (p.Lys137Met) c.*978A>T (n.*978A>T) | |
2 | g.15945746G>A | CA425092767 | MYCN | n.393G>A c.1044G>A (p.Lys348=) c.411G>A (p.Lys137=) c.*979G>A (n.*979G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15945746G>C | CA345932153 | MYCN | n.393G>C c.1044G>C (p.Lys348Asn) c.411G>C (p.Lys137Asn) c.*979G>C (n.*979G>C) | dbSNP |
2 | g.15945746G= | CA2491131162 | MYCN | n.393G= c.1044G= (p.Lys348=) c.411G= (p.Lys137=) c.*979G= (n.*979G=) | |
2 | g.15945746G>T | CA345932154 | MYCN | n.393G>T c.1044G>T (p.Lys348Asn) c.411G>T (p.Lys137Asn) c.*979G>T (n.*979G>T) | |
2 | g.15945747A>C | CA345932155 | MYCN | n.394A>C c.1045A>C (p.Lys349Gln) c.412A>C (p.Lys138Gln) c.*980A>C (n.*980A>C) | |
2 | g.15945747A>G | CA345932156 | MYCN | n.394A>G c.1045A>G (p.Lys349Glu) c.412A>G (p.Lys138Glu) c.*980A>G (n.*980A>G) | |
2 | g.15945747A>T | CA345932157 | MYCN | n.394A>T c.1045A>T (p.Lys349Ter) c.412A>T (p.Lys138Ter) c.*980A>T (n.*980A>T) | |
2 | g.15945748A>C | CA345932158 | MYCN | n.395A>C c.1046A>C (p.Lys349Thr) c.413A>C (p.Lys138Thr) c.*981A>C (n.*981A>C) | |
2 | g.15945748A>G | CA345932159 | MYCN | n.395A>G c.1046A>G (p.Lys349Arg) c.413A>G (p.Lys138Arg) c.*981A>G (n.*981A>G) | |
2 | g.15945748A>T | CA345932160 | MYCN | n.395A>T c.1046A>T (p.Lys349Met) c.413A>T (p.Lys138Met) c.*981A>T (n.*981A>T) | |
2 | g.15945749G>A | CA425092773 | MYCN | n.396G>A c.1047G>A (p.Lys349=) c.414G>A (p.Lys138=) c.*982G>A (n.*982G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945749G>C | CA345932161 | MYCN | n.396G>C c.1047G>C (p.Lys349Asn) c.414G>C (p.Lys138Asn) c.*982G>C (n.*982G>C) | |
2 | g.15945749G= | CA2491131163 | MYCN | n.396G= c.1047G= (p.Lys349=) c.414G= (p.Lys138=) c.*982G= (n.*982G=) | |
2 | g.15945749G>T | CA345932162 | MYCN | n.396G>T c.1047G>T (p.Lys349Asn) c.414G>T (p.Lys138Asn) c.*982G>T (n.*982G>T) | |
2 | g.15945750A= | CA2491131164 | MYCN | n.397A= c.1048A= (p.Ile350=) c.415A= (p.Ile139=) c.*983A= (n.*983A=) | |
2 | g.15945750A>C | CA345932163 | MYCN | n.397A>C c.1048A>C (p.Ile350Leu) c.415A>C (p.Ile139Leu) c.*983A>C (n.*983A>C) | |
2 | g.15945750A>G | CA345932165 | MYCN | n.397A>G c.1048A>G (p.Ile350Val) c.415A>G (p.Ile139Val) c.*983A>G (n.*983A>G) | dbSNP |
2 | g.15945750A>T | CA345932164 | MYCN | n.397A>T c.1048A>T (p.Ile350Leu) c.415A>T (p.Ile139Leu) c.*983A>T (n.*983A>T) | |
2 | g.15945751T>A | CA345932166 | MYCN | n.398T>A c.1049T>A (p.Ile350Lys) c.416T>A (p.Ile139Lys) c.*984T>A (n.*984T>A) | dbSNP |
2 | g.15945751T>C | CA345932167 | MYCN | n.398T>C c.1049T>C (p.Ile350Thr) c.416T>C (p.Ile139Thr) c.*984T>C (n.*984T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.15945751T>G | CA345932168 | MYCN | n.398T>G c.1049T>G (p.Ile350Arg) c.416T>G (p.Ile139Arg) c.*984T>G (n.*984T>G) | dbSNP |
2 | g.15945751T= | CA2491131165 | MYCN | n.398T= c.1049T= (p.Ile350=) c.416T= (p.Ile139=) c.*984T= (n.*984T=) | |
2 | g.15945752A= | CA2491131166 | MYCN | n.399A= c.1050A= (p.Ile350=) c.417A= (p.Ile139=) c.*985A= (n.*985A=) | |
2 | g.15945752A>C | CA425092778 | MYCN | n.399A>C c.1050A>C (p.Ile350=) c.417A>C (p.Ile139=) c.*985A>C (n.*985A>C) | |
2 | g.15945752A>G | CA345932169 | MYCN | n.399A>G c.1050A>G (p.Ile350Met) c.417A>G (p.Ile139Met) c.*985A>G (n.*985A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.15945752A>T | CA425092779 | MYCN | n.399A>T c.1050A>T (p.Ile350=) c.417A>T (p.Ile139=) c.*985A>T (n.*985A>T) | |
2 | g.15945752_15945754dup | CA2739292132 | MYCN | n.399_401dup c.1050_1052dup (p.Lys351_Ser352insLys) c.417_419dup (p.Lys140_Ser141insLys) c.*985_*987dup (n.*985_*987dup) | |
2 | g.15945753A>C | CA345932170 | MYCN | n.400A>C c.1051A>C (p.Lys351Gln) c.418A>C (p.Lys140Gln) c.*986A>C (n.*986A>C) | |
2 | g.15945753A>G | CA345932172 | MYCN | n.400A>G c.1051A>G (p.Lys351Glu) c.418A>G (p.Lys140Glu) c.*986A>G (n.*986A>G) | |
2 | g.15945753A>T | CA345932171 | MYCN | n.400A>T c.1051A>T (p.Lys351Ter) c.418A>T (p.Lys140Ter) c.*986A>T (n.*986A>T) | ClinVar dbSNP |
2 | g.15945754A>C | CA345932173 | MYCN | n.401A>C c.1052A>C (p.Lys351Thr) c.419A>C (p.Lys140Thr) c.*987A>C (n.*987A>C) | |
2 | g.15945754A>G | CA345932174 | MYCN | n.401A>G c.1052A>G (p.Lys351Arg) c.419A>G (p.Lys140Arg) c.*987A>G (n.*987A>G) | |
2 | g.15945754A>T | CA345932175 | MYCN | n.401A>T c.1052A>T (p.Lys351Met) c.419A>T (p.Lys140Met) c.*987A>T (n.*987A>T) | |
2 | g.15945755G>A | CA1538302 | MYCN | n.402G>A c.1053G>A (p.Lys351=) c.420G>A (p.Lys140=) c.*988G>A (n.*988G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15945755G>C | CA345932176 | MYCN | n.402G>C c.1053G>C (p.Lys351Asn) c.420G>C (p.Lys140Asn) c.*988G>C (n.*988G>C) | gnomAD v4 |
2 | g.15945755G= | CA2491131167 | MYCN | n.402G= c.1053G= (p.Lys351=) c.420G= (p.Lys140=) c.*988G= (n.*988G=) | |
2 | g.15945755G>T | CA345932177 | MYCN | n.402G>T c.1053G>T (p.Lys351Asn) c.420G>T (p.Lys140Asn) c.*988G>T (n.*988G>T) | |
2 | g.15945756A>C | CA345932178 | MYCN | n.403A>C c.1054A>C (p.Ser352Arg) c.421A>C (p.Ser141Arg) c.*989A>C (n.*989A>C) | |
2 | g.15945756A>G | CA345932179 | MYCN | n.403A>G c.1054A>G (p.Ser352Gly) c.421A>G (p.Ser141Gly) c.*989A>G (n.*989A>G) | |
2 | g.15945756A>T | CA345932180 | MYCN | n.403A>T c.1054A>T (p.Ser352Cys) c.421A>T (p.Ser141Cys) c.*989A>T (n.*989A>T) | dbSNP |
2 | g.15945757G>A | CA345932181 | MYCN | n.404G>A c.1055G>A (p.Ser352Asn) c.422G>A (p.Ser141Asn) c.*990G>A (n.*990G>A) | |
2 | g.15945757G>C | CA345932182 | MYCN | n.404G>C c.1055G>C (p.Ser352Thr) c.422G>C (p.Ser141Thr) c.*990G>C (n.*990G>C) | |
2 | g.15945757G= | CA2491131168 | MYCN | n.404G= c.1055G= (p.Ser352=) c.422G= (p.Ser141=) c.*990G= (n.*990G=) | |
2 | g.15945757G>T | CA43192485 | MYCN | n.404G>T c.1055G>T (p.Ser352Ile) c.422G>T (p.Ser141Ile) c.*990G>T (n.*990G>T) | dbSNP gnomAD v4 |
2 | g.15945758C>A | CA1538304 | MYCN | n.405C>A c.1056C>A (p.Ser352Arg) c.423C>A (p.Ser141Arg) c.*991C>A (n.*991C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15945758C= | CA2491131169 | MYCN | n.405C= c.1056C= (p.Ser352=) c.423C= (p.Ser141=) c.*991C= (n.*991C=) | |
2 | g.15945758C>G | CA345932183 | MYCN | n.405C>G c.1056C>G (p.Ser352Arg) c.423C>G (p.Ser141Arg) c.*991C>G (n.*991C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15945758C>T | CA1538303 | MYCN | n.405C>T c.1056C>T (p.Ser352=) c.423C>T (p.Ser141=) c.*991C>T (n.*991C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945759G>A | CA345932184 | MYCN | n.406G>A c.1057G>A (p.Glu353Lys) c.424G>A (p.Glu142Lys) c.*992G>A (n.*992G>A) | dbSNP |
2 | g.15945759G>C | CA345932185 | MYCN | n.406G>C c.1057G>C (p.Glu353Gln) c.424G>C (p.Glu142Gln) c.*992G>C (n.*992G>C) | |
2 | g.15945759G>T | CA345932186 | MYCN | n.406G>T c.1057G>T (p.Glu353Ter) c.424G>T (p.Glu142Ter) c.*992G>T (n.*992G>T) | |
2 | g.15945760A= | CA2491131170 | MYCN | n.407A= c.1058A= (p.Glu353=) c.425A= (p.Glu142=) c.*993A= (n.*993A=) | |
2 | g.15945760A>C | CA345932187 | MYCN | n.407A>C c.1058A>C (p.Glu353Ala) c.425A>C (p.Glu142Ala) c.*993A>C (n.*993A>C) | dbSNP |
2 | g.15945760A>G | CA345932188 | MYCN | n.407A>G c.1058A>G (p.Glu353Gly) c.425A>G (p.Glu142Gly) c.*993A>G (n.*993A>G) | dbSNP |
2 | g.15945760A>T | CA345932189 | MYCN | n.407A>T c.1058A>T (p.Glu353Val) c.425A>T (p.Glu142Val) c.*993A>T (n.*993A>T) | dbSNP |
2 | g.15945761G>A | CA425092793 | MYCN | n.408G>A c.1059G>A (p.Glu353=) c.426G>A (p.Glu142=) c.*994G>A (n.*994G>A) | dbSNP gnomAD v4 |
2 | g.15945761G>C | CA345932190 | MYCN | n.408G>C c.1059G>C (p.Glu353Asp) c.426G>C (p.Glu142Asp) c.*994G>C (n.*994G>C) | dbSNP |
2 | g.15945761G= | CA2491131171 | MYCN | n.408G= c.1059G= (p.Glu353=) c.426G= (p.Glu142=) c.*994G= (n.*994G=) | |
2 | g.15945761G>T | CA345932191 | MYCN | n.408G>T c.1059G>T (p.Glu353Asp) c.426G>T (p.Glu142Asp) c.*994G>T (n.*994G>T) | dbSNP |
2 | g.15945762G>A | CA43192486 | MYCN | n.409G>A c.1060G>A (p.Ala354Thr) c.427G>A (p.Ala143Thr) c.*995G>A (n.*995G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945762G>C | CA345932192 | MYCN | n.409G>C c.1060G>C (p.Ala354Pro) c.427G>C (p.Ala143Pro) c.*995G>C (n.*995G>C) | |
2 | g.15945762G= | CA2491131172 | MYCN | n.409G= c.1060G= (p.Ala354=) c.427G= (p.Ala143=) c.*995G= (n.*995G=) | |
2 | g.15945762G>T | CA345932193 | MYCN | n.409G>T c.1060G>T (p.Ala354Ser) c.427G>T (p.Ala143Ser) c.*995G>T (n.*995G>T) | ClinVar |
2 | g.15945763C>A | CA345932195 | MYCN | n.410C>A c.1061C>A (p.Ala354Glu) c.428C>A (p.Ala143Glu) c.*996C>A (n.*996C>A) | |
2 | g.15945763C= | CA2491131173 | MYCN | n.410C= c.1061C= (p.Ala354=) c.428C= (p.Ala143=) c.*996C= (n.*996C=) | |
2 | g.15945763C>G | CA345932194 | MYCN | n.410C>G c.1061C>G (p.Ala354Gly) c.428C>G (p.Ala143Gly) c.*996C>G (n.*996C>G) | |
2 | g.15945763C>T | CA1538305 | MYCN | n.410C>T c.1061C>T (p.Ala354Val) c.428C>T (p.Ala143Val) c.*996C>T (n.*996C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945763dup | CA645372525 | MYCN | n.410dup c.1061dup (p.Ser355ValfsTer14) c.428dup (p.Ser144ValfsTer14) c.*996dup (n.*996dup) | ClinVar dbSNP |
2 | g.15945764G>A | CA1538306 | MYCN | n.411G>A c.1062G>A (p.Ala354=) c.429G>A (p.Ala143=) c.*997G>A (n.*997G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945764G>C | CA425092799 | MYCN | n.411G>C c.1062G>C (p.Ala354=) c.429G>C (p.Ala143=) c.*997G>C (n.*997G>C) | |
2 | g.15945764G= | CA2491131174 | MYCN | n.411G= c.1062G= (p.Ala354=) c.429G= (p.Ala143=) c.*997G= (n.*997G=) | |
2 | g.15945764G>T | CA425092800 | MYCN | n.411G>T c.1062G>T (p.Ala354=) c.429G>T (p.Ala143=) c.*997G>T (n.*997G>T) | |
2 | g.15945765T>A | CA345932196 | MYCN | n.412T>A c.1063T>A (p.Ser355Thr) c.430T>A (p.Ser144Thr) c.*998T>A (n.*998T>A) | dbSNP |
2 | g.15945765T>C | CA345932197 | MYCN | n.412T>C c.1063T>C (p.Ser355Pro) c.430T>C (p.Ser144Pro) c.*998T>C (n.*998T>C) | dbSNP |
2 | g.15945765T>G | CA345932198 | MYCN | n.412T>G c.1063T>G (p.Ser355Ala) c.430T>G (p.Ser144Ala) c.*998T>G (n.*998T>G) | |
2 | g.15945766C>A | CA345932199 | MYCN | n.413C>A c.1064C>A (p.Ser355Tyr) c.431C>A (p.Ser144Tyr) c.*999C>A (n.*999C>A) | dbSNP |
2 | g.15945766C>G | CA345932200 | MYCN | n.413C>G c.1064C>G (p.Ser355Cys) c.431C>G (p.Ser144Cys) c.*999C>G (n.*999C>G) | dbSNP |
2 | g.15945766C>T | CA345932201 | MYCN | n.413C>T c.1064C>T (p.Ser355Phe) c.431C>T (p.Ser144Phe) c.*999C>T (n.*999C>T) | dbSNP |
2 | g.15945767C>A | CA425092806 | MYCN | n.414C>A c.1065C>A (p.Ser355=) c.432C>A (p.Ser144=) c.*1000C>A (n.*1000C>A) | |
2 | g.15945767C= | CA2491131175 | MYCN | n.414C= c.1065C= (p.Ser355=) c.432C= (p.Ser144=) c.*1000C= (n.*1000C=) | |
2 | g.15945767C>G | CA425092808 | MYCN | n.414C>G c.1065C>G (p.Ser355=) c.432C>G (p.Ser144=) c.*1000C>G (n.*1000C>G) | |
2 | g.15945767C>T | CA425092807 | MYCN | n.414C>T c.1065C>T (p.Ser355=) c.432C>T (p.Ser144=) c.*1000C>T (n.*1000C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15945768C>A | CA345932202 | MYCN | n.415C>A c.1066C>A (p.Pro356Thr) c.433C>A (p.Pro145Thr) c.*1001C>A (n.*1001C>A) | |
2 | g.15945768C= | CA2491131176 | MYCN | n.415C= c.1066C= (p.Pro356=) c.433C= (p.Pro145=) c.*1001C= (n.*1001C=) | |
2 | g.15945768C>G | CA345932203 | MYCN | n.415C>G c.1066C>G (p.Pro356Ala) c.433C>G (p.Pro145Ala) c.*1001C>G (n.*1001C>G) | COSMIC |
2 | g.15945768C>T | CA43192487 | MYCN | n.415C>T c.1066C>T (p.Pro356Ser) c.433C>T (p.Pro145Ser) c.*1001C>T (n.*1001C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15945769C>A | CA345932204 | MYCN | n.416C>A c.1067C>A (p.Pro356Gln) c.434C>A (p.Pro145Gln) c.*1002C>A (n.*1002C>A) | dbSNP |
2 | g.15945769C= | CA2491131177 | MYCN | n.416C= c.1067C= (p.Pro356=) c.434C= (p.Pro145=) c.*1002C= (n.*1002C=) | |
2 | g.15945769C>G | CA345932205 | MYCN | n.416C>G c.1067C>G (p.Pro356Arg) c.434C>G (p.Pro145Arg) c.*1002C>G (n.*1002C>G) | |
2 | g.15945769C>T | CA1538307 | MYCN | n.416C>T c.1067C>T (p.Pro356Leu) c.434C>T (p.Pro145Leu) c.*1002C>T (n.*1002C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.15945770A>C | CA425092815 | MYCN | n.417A>C c.1068A>C (p.Pro356=) c.435A>C (p.Pro145=) c.*1003A>C (n.*1003A>C) | |
2 | g.15945770A>G | CA425092816 | MYCN | n.417A>G c.1068A>G (p.Pro356=) c.435A>G (p.Pro145=) c.*1003A>G (n.*1003A>G) | gnomAD v4 |
2 | g.15945770A>T | CA425092817 | MYCN | n.417A>T c.1068A>T (p.Pro356=) c.435A>T (p.Pro145=) c.*1003A>T (n.*1003A>T) | |
2 | g.15945771C>A | CA345932208 | MYCN | n.418C>A c.1069C>A (p.Arg357Ser) c.436C>A (p.Arg146Ser) c.*1004C>A (n.*1004C>A) | |
2 | g.15945771C= | CA2491131178 | MYCN | n.418C= c.1069C= (p.Arg357=) c.436C= (p.Arg146=) c.*1004C= (n.*1004C=) | |
2 | g.15945771C>G | CA345932207 | MYCN | n.418C>G c.1069C>G (p.Arg357Gly) c.436C>G (p.Arg146Gly) c.*1004C>G (n.*1004C>G) | gnomAD v4 |
2 | g.15945771C>T | CA345932206 | MYCN | n.418C>T c.1069C>T (p.Arg357Cys) c.436C>T (p.Arg146Cys) c.*1004C>T (n.*1004C>T) | dbSNP gnomAD v4 |
2 | g.15945772G>A | CA345932210 | MYCN | n.419G>A c.1070G>A (p.Arg357His) c.437G>A (p.Arg146His) c.*1005G>A (n.*1005G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.15945772G>C | CA345932209 | MYCN | n.419G>C c.1070G>C (p.Arg357Pro) c.437G>C (p.Arg146Pro) c.*1005G>C (n.*1005G>C) | dbSNP |
2 | g.15945772G= | CA2491131179 | MYCN | n.419G= c.1070G= (p.Arg357=) c.437G= (p.Arg146=) c.*1005G= (n.*1005G=) | |
2 | g.15945772G>T | CA345932211 | MYCN | n.419G>T c.1070G>T (p.Arg357Leu) c.437G>T (p.Arg146Leu) c.*1005G>T (n.*1005G>T) | |
2 | g.15945773T>A | CA425092820 | MYCN | n.420T>A c.1071T>A (p.Arg357=) c.438T>A (p.Arg146=) c.*1006T>A (n.*1006T>A) | |
2 | g.15945773T>C | CA425092821 | MYCN | n.420T>C c.1071T>C (p.Arg357=) c.438T>C (p.Arg146=) c.*1006T>C (n.*1006T>C) | |
2 | g.15945773T>G | CA425092822 | MYCN | n.420T>G c.1071T>G (p.Arg357=) c.438T>G (p.Arg146=) c.*1006T>G (n.*1006T>G) | gnomAD v4 |
2 | g.15945774C>A | CA345932212 | MYCN | n.421C>A c.1072C>A (p.Pro358Thr) c.439C>A (p.Pro147Thr) c.*1007C>A (n.*1007C>A) | dbSNP |
2 | g.15945774C>G | CA345932214 | MYCN | n.421C>G c.1072C>G (p.Pro358Ala) c.439C>G (p.Pro147Ala) c.*1007C>G (n.*1007C>G) | |
2 | g.15945774C>T | CA345932213 | MYCN | n.421C>T c.1072C>T (p.Pro358Ser) c.439C>T (p.Pro147Ser) c.*1007C>T (n.*1007C>T) | |
2 | g.15945775C>A | CA345932215 | MYCN | n.422C>A c.1073C>A (p.Pro358Gln) c.440C>A (p.Pro147Gln) c.*1008C>A (n.*1008C>A) | |
2 | g.15945775C= | CA2491131180 | MYCN | n.422C= c.1073C= (p.Pro358=) c.440C= (p.Pro147=) c.*1008C= (n.*1008C=) | |
2 | g.15945775C>G | CA345932216 | MYCN | n.422C>G c.1073C>G (p.Pro358Arg) c.440C>G (p.Pro147Arg) c.*1008C>G (n.*1008C>G) | |
2 | g.15945775C>T | CA1538308 | MYCN | n.422C>T c.1073C>T (p.Pro358Leu) c.440C>T (p.Pro147Leu) c.*1008C>T (n.*1008C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.15945776G>A | CA425092825 | MYCN | n.423G>A c.1074G>A (p.Pro358=) c.441G>A (p.Pro147=) c.*1009G>A (n.*1009G>A) | dbSNP gnomAD v4 COSMIC |
2 | g.15945776G>C | CA425092826 | MYCN | n.423G>C c.1074G>C (p.Pro358=) c.441G>C (p.Pro147=) c.*1009G>C (n.*1009G>C) | dbSNP |
2 | g.15945776G= | CA2491131181 | MYCN | n.423G= c.1074G= (p.Pro358=) c.441G= (p.Pro147=) c.*1009G= (n.*1009G=) | |
2 | g.15945776G>T | CA1538309 | MYCN | n.423G>T c.1074G>T (p.Pro358=) c.441G>T (p.Pro147=) c.*1009G>T (n.*1009G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945777C>A | CA345932217 | MYCN | n.424C>A c.1075C>A (p.Leu359Ile) c.442C>A (p.Leu148Ile) c.*1010C>A (n.*1010C>A) | |
2 | g.15945777C= | CA2491131182 | MYCN | n.424C= c.1075C= (p.Leu359=) c.442C= (p.Leu148=) c.*1010C= (n.*1010C=) | |
2 | g.15945777C>G | CA345932218 | MYCN | n.424C>G c.1075C>G (p.Leu359Val) c.442C>G (p.Leu148Val) c.*1010C>G (n.*1010C>G) | |
2 | g.15945777C>T | CA1538310 | MYCN | n.424C>T c.1075C>T (p.Leu359Phe) c.442C>T (p.Leu148Phe) c.*1010C>T (n.*1010C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15945778T>A | CA43192488 | MYCN | n.425T>A c.1076T>A (p.Leu359His) c.443T>A (p.Leu148His) c.*1011T>A (n.*1011T>A) | dbSNP |
2 | g.15945778T>C | CA1538311 | MYCN | n.425T>C c.1076T>C (p.Leu359Pro) c.443T>C (p.Leu148Pro) c.*1011T>C (n.*1011T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15945778T>G | CA345932219 | MYCN | n.425T>G c.1076T>G (p.Leu359Arg) c.443T>G (p.Leu148Arg) c.*1011T>G (n.*1011T>G) | |
2 | g.15945778T= | CA2491131183 | MYCN | n.425T= c.1076T= (p.Leu359=) c.443T= (p.Leu148=) c.*1011T= (n.*1011T=) | |
2 | g.15945779C>A | CA425092828 | MYCN | n.426C>A c.1077C>A (p.Leu359=) c.444C>A (p.Leu148=) c.*1012C>A (n.*1012C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15945779C= | CA2491131184 | MYCN | n.426C= c.1077C= (p.Leu359=) c.444C= (p.Leu148=) c.*1012C= (n.*1012C=) | |
2 | g.15945779C>G | CA425092829 | MYCN | n.426C>G c.1077C>G (p.Leu359=) c.444C>G (p.Leu148=) c.*1012C>G (n.*1012C>G) | |
2 | g.15945779C>T | CA425092830 | MYCN | n.426C>T c.1077C>T (p.Leu359=) c.444C>T (p.Leu148=) c.*1012C>T (n.*1012C>T) | dbSNP gnomAD v2 gnomAD v4 |
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.15945780A>C | CA345932222 | MYCN | n.427A>C c.1078A>C (p.Lys360Gln) c.445A>C (p.Lys149Gln) c.*1013A>C (n.*1013A>C) | |
2 | g.15945780A>G | CA345932221 | MYCN | n.427A>G c.1078A>G (p.Lys360Glu) c.445A>G (p.Lys149Glu) c.*1013A>G (n.*1013A>G) | gnomAD v4 |
2 | g.15945780A>T | CA345932220 | MYCN | n.427A>T c.1078A>T (p.Lys360Ter) c.445A>T (p.Lys149Ter) c.*1013A>T (n.*1013A>T) | |
2 | g.15945781A>C | CA345932223 | MYCN | n.428A>C c.1079A>C (p.Lys360Thr) c.446A>C (p.Lys149Thr) c.*1014A>C (n.*1014A>C) | |
2 | g.15945781A>G | CA345932224 | MYCN | n.428A>G c.1079A>G (p.Lys360Arg) c.446A>G (p.Lys149Arg) c.*1014A>G (n.*1014A>G) | |
2 | g.15945781A>T | CA345932225 | MYCN | n.428A>T c.1079A>T (p.Lys360Met) c.446A>T (p.Lys149Met) c.*1014A>T (n.*1014A>T) | |
2 | g.15945782G>A | CA425092833 | MYCN | n.429G>A c.1080G>A (p.Lys360=) c.447G>A (p.Lys149=) c.*1015G>A (n.*1015G>A) | |
2 | g.15945782G>C | CA345932226 | MYCN | n.429G>C c.1080G>C (p.Lys360Asn) c.447G>C (p.Lys149Asn) c.*1015G>C (n.*1015G>C) | |
2 | g.15945782G>T | CA345932228 | MYCN | n.429G>T c.1080G>T (p.Lys360Asn) c.447G>T (p.Lys149Asn) c.*1015G>T (n.*1015G>T) | |
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) |