Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.15945567_15945569del | CA1538265 | MYCN | n.214_216del c.865_867del (p.Ser289del) c.232_234del (p.Ser78del) c.*800_*802del (n.*800_*802del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945565C>A | CA345931771 | MYCN | n.212C>A c.863C>A (p.Ser288Tyr) c.230C>A (p.Ser77Tyr) c.*798C>A (n.*798C>A) | |
2 | g.15945565C= | CA2491131079 | MYCN | n.212C= c.863C= (p.Ser288=) c.230C= (p.Ser77=) c.*798C= (n.*798C=) | |
2 | g.15945565C>G | CA345931772 | MYCN | n.212C>G c.863C>G (p.Ser288Cys) c.230C>G (p.Ser77Cys) c.*798C>G (n.*798C>G) | |
2 | g.15945565C>T | CA345931773 | MYCN | n.212C>T c.863C>T (p.Ser288Phe) c.230C>T (p.Ser77Phe) c.*798C>T (n.*798C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15945566C>A | CA1538266 | MYCN | n.213C>A c.864C>A (p.Ser288=) c.231C>A (p.Ser77=) c.*799C>A (n.*799C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15945566C= | CA2491131080 | MYCN | n.213C= c.864C= (p.Ser288=) c.231C= (p.Ser77=) c.*799C= (n.*799C=) | |
2 | g.15945566C>G | CA425057035 | MYCN | n.213C>G c.864C>G (p.Ser288=) c.231C>G (p.Ser77=) c.*799C>G (n.*799C>G) | |
2 | g.15945566C>T | CA425057036 | MYCN | n.213C>T c.864C>T (p.Ser288=) c.231C>T (p.Ser77=) c.*799C>T (n.*799C>T) | dbSNP |
2 | g.15945567T>A | CA345931774 | MYCN | n.214T>A c.865T>A (p.Ser289Thr) c.232T>A (p.Ser78Thr) c.*800T>A (n.*800T>A) | |
2 | g.15945567T>C | CA345931775 | MYCN | n.214T>C c.865T>C (p.Ser289Pro) c.232T>C (p.Ser78Pro) c.*800T>C (n.*800T>C) | |
2 | g.15945567T>G | CA1538267 | MYCN | n.214T>G c.865T>G (p.Ser289Ala) c.232T>G (p.Ser78Ala) c.*800T>G (n.*800T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945567T= | CA2491131081 | MYCN | n.214T= c.865T= (p.Ser289=) c.232T= (p.Ser78=) c.*800T= (n.*800T=) | |
2 | g.15945568C>A | CA345931776 | MYCN | n.215C>A c.866C>A (p.Ser289Tyr) c.233C>A (p.Ser78Tyr) c.*801C>A (n.*801C>A) | |
2 | g.15945568C>G | CA345931777 | MYCN | n.215C>G c.866C>G (p.Ser289Cys) c.233C>G (p.Ser78Cys) c.*801C>G (n.*801C>G) | gnomAD v4 |
2 | g.15945568C>T | CA345931778 | MYCN | n.215C>T c.866C>T (p.Ser289Phe) c.233C>T (p.Ser78Phe) c.*801C>T (n.*801C>T) | |
2 | g.15945569C>A | CA43192477 | MYCN | n.216C>A c.867C>A (p.Ser289=) c.234C>A (p.Ser78=) c.*802C>A (n.*802C>A) | dbSNP gnomAD v4 |
2 | g.15945569C= | CA2491131082 | MYCN | n.216C= c.867C= (p.Ser289=) c.234C= (p.Ser78=) c.*802C= (n.*802C=) | |
2 | g.15945569C>G | CA425057042 | MYCN | n.216C>G c.867C>G (p.Ser289=) c.234C>G (p.Ser78=) c.*802C>G (n.*802C>G) | |
2 | g.15945569C>T | CA425057043 | MYCN | n.216C>T c.867C>T (p.Ser289=) c.234C>T (p.Ser78=) c.*802C>T (n.*802C>T) | COSMIC |
2 | g.15945570A= | CA2491131083 | MYCN | n.217A= c.868A= (p.Asn290=) c.235A= (p.Asn79=) c.*803A= (n.*803A=) | |
2 | g.15945570A>C | CA345931780 | MYCN | n.217A>C c.868A>C (p.Asn290His) c.235A>C (p.Asn79His) c.*803A>C (n.*803A>C) | |
2 | g.15945570A>G | CA345931781 | MYCN | n.217A>G c.868A>G (p.Asn290Asp) c.235A>G (p.Asn79Asp) c.*803A>G (n.*803A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945570A>T | CA345931779 | MYCN | n.217A>T c.868A>T (p.Asn290Tyr) c.235A>T (p.Asn79Tyr) c.*803A>T (n.*803A>T) | |
2 | g.15945571A= | CA2491131084 | MYCN | n.218A= c.869A= (p.Asn290=) c.236A= (p.Asn79=) c.*804A= (n.*804A=) | |
2 | g.15945571A>C | CA345931782 | MYCN | n.218A>C c.869A>C (p.Asn290Thr) c.236A>C (p.Asn79Thr) c.*804A>C (n.*804A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945571A>G | CA345931783 | MYCN | n.218A>G c.869A>G (p.Asn290Ser) c.236A>G (p.Asn79Ser) c.*804A>G (n.*804A>G) | |
2 | g.15945571A>T | CA345931784 | MYCN | n.218A>T c.869A>T (p.Asn290Ile) c.236A>T (p.Asn79Ile) c.*804A>T (n.*804A>T) | |
2 | g.15945572C>A | CA345931785 | MYCN | n.219C>A c.870C>A (p.Asn290Lys) c.237C>A (p.Asn79Lys) c.*805C>A (n.*805C>A) | |
2 | g.15945572C= | CA2491131085 | MYCN | n.219C= c.870C= (p.Asn290=) c.237C= (p.Asn79=) c.*805C= (n.*805C=) | |
2 | g.15945572C>G | CA345931786 | MYCN | n.219C>G c.870C>G (p.Asn290Lys) c.237C>G (p.Asn79Lys) c.*805C>G (n.*805C>G) | |
2 | g.15945572C>T | CA425057048 | MYCN | n.219C>T c.870C>T (p.Asn290=) c.237C>T (p.Asn79=) c.*805C>T (n.*805C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945577_15945588del | CA2576682125 | MYCN | n.224_235del c.875_886del (p.Lys292_Thr295del) c.242_253del (p.Lys81_Thr84del) c.*810_*821del (n.*810_*821del) | |
2 | g.15945573A>C | CA345931787 | MYCN | n.220A>C c.871A>C (p.Thr291Pro) c.238A>C (p.Thr80Pro) c.*806A>C (n.*806A>C) | |
2 | g.15945573A>G | CA345931788 | MYCN | n.220A>G c.871A>G (p.Thr291Ala) c.238A>G (p.Thr80Ala) c.*806A>G (n.*806A>G) | |
2 | g.15945573A>T | CA345931789 | MYCN | n.220A>T c.871A>T (p.Thr291Ser) c.238A>T (p.Thr80Ser) c.*806A>T (n.*806A>T) | |
2 | g.15945574C>A | CA345931790 | MYCN | n.221C>A c.872C>A (p.Thr291Asn) c.239C>A (p.Thr80Asn) c.*807C>A (n.*807C>A) | |
2 | g.15945574C>G | CA345931791 | MYCN | n.221C>G c.872C>G (p.Thr291Ser) c.239C>G (p.Thr80Ser) c.*807C>G (n.*807C>G) | |
2 | g.15945574C>T | CA345931792 | MYCN | n.221C>T c.872C>T (p.Thr291Ile) c.239C>T (p.Thr80Ile) c.*807C>T (n.*807C>T) | dbSNP gnomAD v4 |
2 | g.15945575C>A | CA425057051 | MYCN | n.222C>A c.873C>A (p.Thr291=) c.240C>A (p.Thr80=) c.*808C>A (n.*808C>A) | gnomAD v4 |
2 | g.15945575C>G | CA425057054 | MYCN | n.222C>G c.873C>G (p.Thr291=) c.240C>G (p.Thr80=) c.*808C>G (n.*808C>G) | |
2 | g.15945575C>T | CA425057053 | MYCN | n.222C>T c.873C>T (p.Thr291=) c.240C>T (p.Thr80=) c.*808C>T (n.*808C>T) | |
2 | g.15945576A>C | CA345931794 | MYCN | n.223A>C c.874A>C (p.Lys292Gln) c.241A>C (p.Lys81Gln) c.*809A>C (n.*809A>C) | |
2 | g.15945576A>G | CA345931795 | MYCN | n.223A>G c.874A>G (p.Lys292Glu) c.241A>G (p.Lys81Glu) c.*809A>G (n.*809A>G) | |
2 | g.15945576A>T | CA345931793 | MYCN | n.223A>T c.874A>T (p.Lys292Ter) c.241A>T (p.Lys81Ter) c.*809A>T (n.*809A>T) | |
2 | g.15945577A>C | CA345931796 | MYCN | n.224A>C c.875A>C (p.Lys292Thr) c.242A>C (p.Lys81Thr) c.*810A>C (n.*810A>C) | |
2 | g.15945577A>G | CA345931797 | MYCN | n.224A>G c.875A>G (p.Lys292Arg) c.242A>G (p.Lys81Arg) c.*810A>G (n.*810A>G) | |
2 | g.15945577A>T | CA345931798 | MYCN | n.224A>T c.875A>T (p.Lys292Met) c.242A>T (p.Lys81Met) c.*810A>T (n.*810A>T) | |
2 | g.15945578G>A | CA425057063 | MYCN | n.225G>A c.876G>A (p.Lys292=) c.243G>A (p.Lys81=) c.*811G>A (n.*811G>A) | |
2 | g.15945578G>C | CA345931799 | MYCN | n.225G>C c.876G>C (p.Lys292Asn) c.243G>C (p.Lys81Asn) c.*811G>C (n.*811G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15945578G= | CA2491131086 | MYCN | n.225G= c.876G= (p.Lys292=) c.243G= (p.Lys81=) c.*811G= (n.*811G=) | |
2 | g.15945578G>T | CA345931800 | MYCN | n.225G>T c.876G>T (p.Lys292Asn) c.243G>T (p.Lys81Asn) c.*811G>T (n.*811G>T) | |
2 | g.15945579G>A | CA345931803 | MYCN | n.226G>A c.877G>A (p.Ala293Thr) c.244G>A (p.Ala82Thr) c.*812G>A (n.*812G>A) | |
2 | g.15945579G>C | CA345931801 | MYCN | n.226G>C c.877G>C (p.Ala293Pro) c.244G>C (p.Ala82Pro) c.*812G>C (n.*812G>C) | |
2 | g.15945579G= | CA2491131087 | MYCN | n.226G= c.877G= (p.Ala293=) c.244G= (p.Ala82=) c.*812G= (n.*812G=) | |
2 | g.15945579G>T | CA345931802 | MYCN | n.226G>T c.877G>T (p.Ala293Ser) c.244G>T (p.Ala82Ser) c.*812G>T (n.*812G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15945580C>A | CA345931804 | MYCN | n.227C>A c.878C>A (p.Ala293Asp) c.245C>A (p.Ala82Asp) c.*813C>A (n.*813C>A) | |
2 | g.15945580C= | CA2491131088 | MYCN | n.227C= c.878C= (p.Ala293=) c.245C= (p.Ala82=) c.*813C= (n.*813C=) | |
2 | g.15945580C>G | CA345931805 | MYCN | n.227C>G c.878C>G (p.Ala293Gly) c.245C>G (p.Ala82Gly) c.*813C>G (n.*813C>G) | |
2 | g.15945580C>T | CA345931806 | MYCN | n.227C>T c.878C>T (p.Ala293Val) c.245C>T (p.Ala82Val) c.*813C>T (n.*813C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15945581T>A | CA425057069 | MYCN | n.228T>A c.879T>A (p.Ala293=) c.246T>A (p.Ala82=) c.*814T>A (n.*814T>A) | |
2 | g.15945581T>C | CA425057071 | MYCN | n.228T>C c.879T>C (p.Ala293=) c.246T>C (p.Ala82=) c.*814T>C (n.*814T>C) | |
2 | g.15945581T>G | CA425057070 | MYCN | n.228T>G c.879T>G (p.Ala293=) c.246T>G (p.Ala82=) c.*814T>G (n.*814T>G) | |
2 | g.15945582G>A | CA345931807 | MYCN | n.229G>A c.880G>A (p.Val294Ile) c.247G>A (p.Val83Ile) c.*815G>A (n.*815G>A) | dbSNP |
2 | g.15945582G>C | CA345931808 | MYCN | n.229G>C c.880G>C (p.Val294Leu) c.247G>C (p.Val83Leu) c.*815G>C (n.*815G>C) | dbSNP |
2 | g.15945582G>T | CA345931809 | MYCN | n.229G>T c.880G>T (p.Val294Phe) c.247G>T (p.Val83Phe) c.*815G>T (n.*815G>T) | gnomAD v4 |
2 | g.15945583T>A | CA345931811 | MYCN | n.230T>A c.881T>A (p.Val294Asp) c.248T>A (p.Val83Asp) c.*816T>A (n.*816T>A) | |
2 | g.15945583T>C | CA345931812 | MYCN | n.230T>C c.881T>C (p.Val294Ala) c.248T>C (p.Val83Ala) c.*816T>C (n.*816T>C) | gnomAD v4 |
2 | g.15945583T>G | CA345931810 | MYCN | n.230T>G c.881T>G (p.Val294Gly) c.248T>G (p.Val83Gly) c.*816T>G (n.*816T>G) | |
2 | g.15945583_15945584dup | CA2586968717 | MYCN | n.230_231dup c.881_882dup (p.Thr295SerfsTer25) c.248_249dup (p.Thr84SerfsTer25) c.*816_*817dup (n.*816_*817dup) | |
2 | g.15945584C>A | CA425057077 | MYCN | n.231C>A c.882C>A (p.Val294=) c.249C>A (p.Val83=) c.*817C>A (n.*817C>A) | |
2 | g.15945584C>G | CA425057079 | MYCN | n.231C>G c.882C>G (p.Val294=) c.249C>G (p.Val83=) c.*817C>G (n.*817C>G) | |
2 | g.15945584C>T | CA425057080 | MYCN | n.231C>T c.882C>T (p.Val294=) c.249C>T (p.Val83=) c.*817C>T (n.*817C>T) | dbSNP |
2 | g.15945585A= | CA2491131089 | MYCN | n.232A= c.883A= (p.Thr295=) c.250A= (p.Thr84=) c.*818A= (n.*818A=) | |
2 | g.15945585A>C | CA345931813 | MYCN | n.232A>C c.883A>C (p.Thr295Pro) c.250A>C (p.Thr84Pro) c.*818A>C (n.*818A>C) | dbSNP |
2 | g.15945585A>G | CA345931814 | MYCN | n.232A>G c.883A>G (p.Thr295Ala) c.250A>G (p.Thr84Ala) c.*818A>G (n.*818A>G) | |
2 | g.15945585A>T | CA345931815 | MYCN | n.232A>T c.883A>T (p.Thr295Ser) c.250A>T (p.Thr84Ser) c.*818A>T (n.*818A>T) | |
2 | g.15945586C>A | CA345931816 | MYCN | n.233C>A c.884C>A (p.Thr295Asn) c.251C>A (p.Thr84Asn) c.*819C>A (n.*819C>A) | dbSNP |
2 | g.15945586C= | CA2491131090 | MYCN | n.233C= c.884C= (p.Thr295=) c.251C= (p.Thr84=) c.*819C= (n.*819C=) | |
2 | g.15945586C>G | CA345931817 | MYCN | n.233C>G c.884C>G (p.Thr295Ser) c.251C>G (p.Thr84Ser) c.*819C>G (n.*819C>G) | |
2 | g.15945586C>T | CA345931818 | MYCN | n.233C>T c.884C>T (p.Thr295Ile) c.251C>T (p.Thr84Ile) c.*819C>T (n.*819C>T) | |
2 | g.15945587C>A | CA425057087 | MYCN | n.234C>A c.885C>A (p.Thr295=) c.252C>A (p.Thr84=) c.*820C>A (n.*820C>A) | |
2 | g.15945587C>G | CA425057088 | MYCN | n.234C>G c.885C>G (p.Thr295=) c.252C>G (p.Thr84=) c.*820C>G (n.*820C>G) | |
2 | g.15945587C>T | CA425057090 | MYCN | n.234C>T c.885C>T (p.Thr295=) c.252C>T (p.Thr84=) c.*820C>T (n.*820C>T) | |
2 | g.15945588A>C | CA345931821 | MYCN | n.235A>C c.886A>C (p.Thr296Pro) c.253A>C (p.Thr85Pro) c.*821A>C (n.*821A>C) | |
2 | g.15945588A>G | CA345931819 | MYCN | n.235A>G c.886A>G (p.Thr296Ala) c.253A>G (p.Thr85Ala) c.*821A>G (n.*821A>G) | |
2 | g.15945588A>T | CA345931820 | MYCN | n.235A>T c.886A>T (p.Thr296Ser) c.253A>T (p.Thr85Ser) c.*821A>T (n.*821A>T) | |
2 | g.15945589C>A | CA345931822 | MYCN | n.236C>A c.887C>A (p.Thr296Lys) c.254C>A (p.Thr85Lys) c.*822C>A (n.*822C>A) | |
2 | g.15945589C>G | CA345931823 | MYCN | n.236C>G c.887C>G (p.Thr296Arg) c.254C>G (p.Thr85Arg) c.*822C>G (n.*822C>G) | |
2 | g.15945589C>T | CA345931824 | MYCN | n.236C>T c.887C>T (p.Thr296Ile) c.254C>T (p.Thr85Ile) c.*822C>T (n.*822C>T) | dbSNP |
2 | g.15945590A= | CA2491131091 | MYCN | n.237A= c.888A= (p.Thr296=) c.255A= (p.Thr85=) c.*823A= (n.*823A=) | |
2 | g.15945590A>C | CA425057094 | MYCN | n.237A>C c.888A>C (p.Thr296=) c.255A>C (p.Thr85=) c.*823A>C (n.*823A>C) | |
2 | g.15945590A>G | CA425057095 | MYCN | n.237A>G c.888A>G (p.Thr296=) c.255A>G (p.Thr85=) c.*823A>G (n.*823A>G) | |
2 | g.15945590A>T | CA425057096 | MYCN | n.237A>T c.888A>T (p.Thr296=) c.255A>T (p.Thr85=) c.*823A>T (n.*823A>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.15945591T>A | CA345931825 | MYCN | n.238T>A c.889T>A (p.Phe297Ile) c.256T>A (p.Phe86Ile) c.*824T>A (n.*824T>A) | |
2 | g.15945591T>C | CA345931826 | MYCN | n.238T>C c.889T>C (p.Phe297Leu) c.256T>C (p.Phe86Leu) c.*824T>C (n.*824T>C) | gnomAD v4 |
2 | g.15945591T>G | CA345931827 | MYCN | n.238T>G c.889T>G (p.Phe297Val) c.256T>G (p.Phe86Val) c.*824T>G (n.*824T>G) | |
2 | g.15945592T>A | CA345931828 | MYCN | n.239T>A c.890T>A (p.Phe297Tyr) c.257T>A (p.Phe86Tyr) c.*825T>A (n.*825T>A) | |
2 | g.15945592T>C | CA345931830 | MYCN | n.239T>C c.890T>C (p.Phe297Ser) c.257T>C (p.Phe86Ser) c.*825T>C (n.*825T>C) | dbSNP |
2 | g.15945592T>G | CA345931829 | MYCN | n.239T>G c.890T>G (p.Phe297Cys) c.257T>G (p.Phe86Cys) c.*825T>G (n.*825T>G) | |
2 | g.15945592T= | CA2491131092 | MYCN | n.239T= c.890T= (p.Phe297=) c.257T= (p.Phe86=) c.*825T= (n.*825T=) | |
2 | g.15945593C>A | CA345931831 | MYCN | n.240C>A c.891C>A (p.Phe297Leu) c.258C>A (p.Phe86Leu) c.*826C>A (n.*826C>A) | dbSNP |
2 | g.15945593C= | CA2491131093 | MYCN | n.240C= c.891C= (p.Phe297=) c.258C= (p.Phe86=) c.*826C= (n.*826C=) | |
2 | g.15945593C>G | CA345931832 | MYCN | n.240C>G c.891C>G (p.Phe297Leu) c.258C>G (p.Phe86Leu) c.*826C>G (n.*826C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15945593C>T | CA425057103 | MYCN | n.240C>T c.891C>T (p.Phe297=) c.258C>T (p.Phe86=) c.*826C>T (n.*826C>T) | dbSNP gnomAD v4 |
2 | g.15945594A= | CA2491131094 | MYCN | n.241A= c.892A= (p.Thr298=) c.259A= (p.Thr87=) c.*827A= (n.*827A=) | |
2 | g.15945594A>C | CA345931833 | MYCN | n.241A>C c.892A>C (p.Thr298Pro) c.259A>C (p.Thr87Pro) c.*827A>C (n.*827A>C) | |
2 | g.15945594A>G | CA345931834 | MYCN | n.241A>G c.892A>G (p.Thr298Ala) c.259A>G (p.Thr87Ala) c.*827A>G (n.*827A>G) | dbSNP gnomAD v4 |
2 | g.15945594A>T | CA345931835 | MYCN | n.241A>T c.892A>T (p.Thr298Ser) c.259A>T (p.Thr87Ser) c.*827A>T (n.*827A>T) | |
2 | g.15945595C>A | CA345931836 | MYCN | n.242C>A c.893C>A (p.Thr298Asn) c.260C>A (p.Thr87Asn) c.*828C>A (n.*828C>A) | |
2 | g.15945595C= | CA2491131095 | MYCN | n.242C= c.893C= (p.Thr298=) c.260C= (p.Thr87=) c.*828C= (n.*828C=) | |
2 | g.15945595C>G | CA345931837 | MYCN | n.242C>G c.893C>G (p.Thr298Ser) c.260C>G (p.Thr87Ser) c.*828C>G (n.*828C>G) | |
2 | g.15945595C>T | CA345931838 | MYCN | n.242C>T c.893C>T (p.Thr298Ile) c.260C>T (p.Thr87Ile) c.*828C>T (n.*828C>T) | dbSNP gnomAD v4 |
2 | g.15945596C>A | CA425057109 | MYCN | n.243C>A c.894C>A (p.Thr298=) c.261C>A (p.Thr87=) c.*829C>A (n.*829C>A) | |
2 | g.15945596C= | CA2491131096 | MYCN | n.243C= c.894C= (p.Thr298=) c.261C= (p.Thr87=) c.*829C= (n.*829C=) | |
2 | g.15945596C>G | CA425057110 | MYCN | n.243C>G c.894C>G (p.Thr298=) c.261C>G (p.Thr87=) c.*829C>G (n.*829C>G) | |
2 | g.15945596C>T | CA1538268 | MYCN | n.243C>T c.894C>T (p.Thr298=) c.261C>T (p.Thr87=) c.*829C>T (n.*829C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15945597A>C | CA345931839 | MYCN | n.244A>C c.895A>C (p.Ile299Leu) c.262A>C (p.Ile88Leu) c.*830A>C (n.*830A>C) | |
2 | g.15945597A>G | CA345931840 | MYCN | n.244A>G c.895A>G (p.Ile299Val) c.262A>G (p.Ile88Val) c.*830A>G (n.*830A>G) | |
2 | g.15945597A>T | CA345931841 | MYCN | n.244A>T c.895A>T (p.Ile299Phe) c.262A>T (p.Ile88Phe) c.*830A>T (n.*830A>T) | |
2 | g.15945598T>A | CA345931842 | MYCN | n.245T>A c.896T>A (p.Ile299Asn) c.263T>A (p.Ile88Asn) c.*831T>A (n.*831T>A) | gnomAD v4 |
2 | g.15945598T>C | CA345931844 | MYCN | n.245T>C c.896T>C (p.Ile299Thr) c.263T>C (p.Ile88Thr) c.*831T>C (n.*831T>C) | |
2 | g.15945598T>G | CA345931843 | MYCN | n.245T>G c.896T>G (p.Ile299Ser) c.263T>G (p.Ile88Ser) c.*831T>G (n.*831T>G) | |
2 | g.15945599C>A | CA425057116 | MYCN | n.246C>A c.897C>A (p.Ile299=) c.264C>A (p.Ile88=) c.*832C>A (n.*832C>A) | |
2 | g.15945599C= | CA2491131097 | MYCN | n.246C= c.897C= (p.Ile299=) c.264C= (p.Ile88=) c.*832C= (n.*832C=) | |
2 | g.15945599C>G | CA345931845 | MYCN | n.246C>G c.897C>G (p.Ile299Met) c.264C>G (p.Ile88Met) c.*832C>G (n.*832C>G) | dbSNP |
2 | g.15945599C>T | CA425057119 | MYCN | n.246C>T c.897C>T (p.Ile299=) c.264C>T (p.Ile88=) c.*832C>T (n.*832C>T) | gnomAD v4 |
2 | g.15945600A= | CA2491131098 | MYCN | n.247A= c.898A= (p.Thr300=) c.265A= (p.Thr89=) c.*833A= (n.*833A=) | |
2 | g.15945600A>C | CA345931846 | MYCN | n.247A>C c.898A>C (p.Thr300Pro) c.265A>C (p.Thr89Pro) c.*833A>C (n.*833A>C) | dbSNP gnomAD v2 |
2 | g.15945600A>G | CA345931847 | MYCN | n.247A>G c.898A>G (p.Thr300Ala) c.265A>G (p.Thr89Ala) c.*833A>G (n.*833A>G) | |
2 | g.15945600A>T | CA345931848 | MYCN | n.247A>T c.898A>T (p.Thr300Ser) c.265A>T (p.Thr89Ser) c.*833A>T (n.*833A>T) | |
2 | g.15945601C>A | CA345931849 | MYCN | n.248C>A c.899C>A (p.Thr300Asn) c.266C>A (p.Thr89Asn) c.*834C>A (n.*834C>A) | |
2 | g.15945601C= | CA2491131099 | MYCN | n.248C= c.899C= (p.Thr300=) c.266C= (p.Thr89=) c.*834C= (n.*834C=) | |
2 | g.15945601C>G | CA345931850 | MYCN | n.248C>G c.899C>G (p.Thr300Ser) c.266C>G (p.Thr89Ser) c.*834C>G (n.*834C>G) | |
2 | g.15945601C>T | CA16040252 | MYCN | n.248C>T c.899C>T (p.Thr300Ile) c.266C>T (p.Thr89Ile) c.*834C>T (n.*834C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945601_15945603delinsCTG | CA2491131100 | MYCN | n.248_250delinsCTG c.899_901delinsCTG (p.Thr300=) c.266_268delinsCTG (p.Thr89=) c.*834_*836delinsCTG (n.*834_*836delinsCTG) | |
2 | g.15945602T>A | CA425057124 | MYCN | n.249T>A c.900T>A (p.Thr300=) c.267T>A (p.Thr89=) c.*835T>A (n.*835T>A) | |
2 | g.15945602T>C | CA425057126 | MYCN | n.249T>C c.900T>C (p.Thr300=) c.267T>C (p.Thr89=) c.*835T>C (n.*835T>C) | dbSNP |
2 | g.15945602T>G | CA425057128 | MYCN | n.249T>G c.900T>G (p.Thr300=) c.267T>G (p.Thr89=) c.*835T>G (n.*835T>G) | gnomAD v4 |
2 | g.15945602T= | CA2491131101 | MYCN | n.249T= c.900T= (p.Thr300=) c.267T= (p.Thr89=) c.*835T= (n.*835T=) | |
2 | g.15945604_15945605del | CA645372361 | MYCN | n.251_252del c.902_903del (p.Val301AlafsTer?) c.269_270del (p.Val90AlafsTer?) c.*837_*838del (n.*837_*838del) | ClinVar dbSNP |
2 | g.15945603del | CA2695200426 | MYCN | n.250del c.901del (p.Val301CysfsTer18) c.268del (p.Val90CysfsTer18) c.*836del (n.*836del) | ClinVar |
2 | g.15945603G>A | CA1538269 | MYCN | n.250G>A c.901G>A (p.Val301Met) c.268G>A (p.Val90Met) c.*836G>A (n.*836G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15945603G>C | CA345931851 | MYCN | n.250G>C c.901G>C (p.Val301Leu) c.268G>C (p.Val90Leu) c.*836G>C (n.*836G>C) | |
2 | g.15945603G= | CA2491131102 | MYCN | n.250G= c.901G= (p.Val301=) c.268G= (p.Val90=) c.*836G= (n.*836G=) | |
2 | g.15945603G>T | CA345931852 | MYCN | n.250G>T c.901G>T (p.Val301Leu) c.268G>T (p.Val90Leu) c.*836G>T (n.*836G>T) | |
2 | g.15945604T>A | CA345931853 | MYCN | n.251T>A c.902T>A (p.Val301Glu) c.269T>A (p.Val90Glu) c.*837T>A (n.*837T>A) | |
2 | g.15945604T>C | CA345931854 | MYCN | n.251T>C c.902T>C (p.Val301Ala) c.269T>C (p.Val90Ala) c.*837T>C (n.*837T>C) | |
2 | g.15945604T>G | CA345931855 | MYCN | n.251T>G c.902T>G (p.Val301Gly) c.269T>G (p.Val90Gly) c.*837T>G (n.*837T>G) | |
2 | g.15945605G>A | CA425092504 | MYCN | n.252G>A c.903G>A (p.Val301=) c.270G>A (p.Val90=) c.*838G>A (n.*838G>A) | gnomAD v4 COSMIC |
2 | g.15945605G>C | CA425092505 | MYCN | n.252G>C c.903G>C (p.Val301=) c.270G>C (p.Val90=) c.*838G>C (n.*838G>C) | |
2 | g.15945605G>T | CA425092506 | MYCN | n.252G>T c.903G>T (p.Val301=) c.270G>T (p.Val90=) c.*838G>T (n.*838G>T) | |
2 | g.15945606C>A | CA345931856 | MYCN | n.253C>A c.904C>A (p.Arg302Ser) c.271C>A (p.Arg91Ser) c.*839C>A (n.*839C>A) | gnomAD v4 |
2 | g.15945606C= | CA2491131103 | MYCN | n.253C= c.904C= (p.Arg302=) c.271C= (p.Arg91=) c.*839C= (n.*839C=) | |
2 | g.15945606C>G | CA1538270 | MYCN | n.253C>G c.904C>G (p.Arg302Gly) c.271C>G (p.Arg91Gly) c.*839C>G (n.*839C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945606C>T | CA1538271 | MYCN | n.253C>T c.904C>T (p.Arg302Cys) c.271C>T (p.Arg91Cys) c.*839C>T (n.*839C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.15945607G>A | CA1538272 | MYCN | n.254G>A c.905G>A (p.Arg302His) c.272G>A (p.Arg91His) c.*840G>A (n.*840G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945607G>C | CA345931857 | MYCN | n.254G>C c.905G>C (p.Arg302Pro) c.272G>C (p.Arg91Pro) c.*840G>C (n.*840G>C) | |
2 | g.15945607G= | CA2491131104 | MYCN | n.254G= c.905G= (p.Arg302=) c.272G= (p.Arg91=) c.*840G= (n.*840G=) | |
2 | g.15945607G>T | CA345931858 | MYCN | n.254G>T c.905G>T (p.Arg302Leu) c.272G>T (p.Arg91Leu) c.*840G>T (n.*840G>T) | gnomAD v4 |
2 | g.15945608T>A | CA425092507 | MYCN | n.255T>A c.906T>A (p.Arg302=) c.273T>A (p.Arg91=) c.*841T>A (n.*841T>A) | |
2 | g.15945608T>C | CA425092508 | MYCN | n.255T>C c.906T>C (p.Arg302=) c.273T>C (p.Arg91=) c.*841T>C (n.*841T>C) | |
2 | g.15945608T>G | CA425092509 | MYCN | n.255T>G c.906T>G (p.Arg302=) c.273T>G (p.Arg91=) c.*841T>G (n.*841T>G) | |
2 | g.15945609C>A | CA345931859 | MYCN | n.256C>A c.907C>A (p.Pro303Thr) c.274C>A (p.Pro92Thr) c.*842C>A (n.*842C>A) | |
2 | g.15945609C>G | CA345931860 | MYCN | n.256C>G c.907C>G (p.Pro303Ala) c.274C>G (p.Pro92Ala) c.*842C>G (n.*842C>G) | |
2 | g.15945609C>T | CA345931861 | MYCN | n.256C>T c.907C>T (p.Pro303Ser) c.274C>T (p.Pro92Ser) c.*842C>T (n.*842C>T) | dbSNP gnomAD v4 |
2 | g.15945610C>A | CA345931862 | MYCN | n.257C>A c.908C>A (p.Pro303His) c.275C>A (p.Pro92His) c.*843C>A (n.*843C>A) | |
2 | g.15945610C= | CA2491131105 | MYCN | n.257C= c.908C= (p.Pro303=) c.275C= (p.Pro92=) c.*843C= (n.*843C=) | |
2 | g.15945610C>G | CA345931863 | MYCN | n.257C>G c.908C>G (p.Pro303Arg) c.275C>G (p.Pro92Arg) c.*843C>G (n.*843C>G) | dbSNP gnomAD v4 |
2 | g.15945610C>T | CA345931864 | MYCN | n.257C>T c.908C>T (p.Pro303Leu) c.275C>T (p.Pro92Leu) c.*843C>T (n.*843C>T) | dbSNP |
2 | g.15945611C>A | CA425092510 | MYCN | n.258C>A c.909C>A (p.Pro303=) c.276C>A (p.Pro92=) c.*844C>A (n.*844C>A) | |
2 | g.15945611C>G | CA425092511 | MYCN | n.258C>G c.909C>G (p.Pro303=) c.276C>G (p.Pro92=) c.*844C>G (n.*844C>G) | ClinVar |
2 | g.15945611C>T | CA425092512 | MYCN | n.258C>T c.909C>T (p.Pro303=) c.276C>T (p.Pro92=) c.*844C>T (n.*844C>T) | |
2 | g.15945612A>C | CA345931865 | MYCN | n.259A>C c.910A>C (p.Lys304Gln) c.277A>C (p.Lys93Gln) c.*845A>C (n.*845A>C) | |
2 | g.15945612A>G | CA345931866 | MYCN | n.259A>G c.910A>G (p.Lys304Glu) c.277A>G (p.Lys93Glu) c.*845A>G (n.*845A>G) | |
2 | g.15945612A>T | CA345931867 | MYCN | n.259A>T c.910A>T (p.Lys304Ter) c.277A>T (p.Lys93Ter) c.*845A>T (n.*845A>T) | |
2 | g.15945613A= | CA2491131106 | MYCN | n.260A= c.911A= (p.Lys304=) c.278A= (p.Lys93=) c.*846A= (n.*846A=) | |
2 | g.15945613A>C | CA345931868 | MYCN | n.260A>C c.911A>C (p.Lys304Thr) c.278A>C (p.Lys93Thr) c.*846A>C (n.*846A>C) | |
2 | g.15945613A>G | CA1538273 | MYCN | n.260A>G c.911A>G (p.Lys304Arg) c.278A>G (p.Lys93Arg) c.*846A>G (n.*846A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15945613A>T | CA345931869 | MYCN | n.260A>T c.911A>T (p.Lys304Met) c.278A>T (p.Lys93Met) c.*846A>T (n.*846A>T) | |
2 | g.15945614G>A | CA425092513 | MYCN | n.261G>A c.912G>A (p.Lys304=) c.279G>A (p.Lys93=) c.*847G>A (n.*847G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945614G>C | CA345931870 | MYCN | n.261G>C c.912G>C (p.Lys304Asn) c.279G>C (p.Lys93Asn) c.*847G>C (n.*847G>C) | |
2 | g.15945614G= | CA2491131107 | MYCN | n.261G= c.912G= (p.Lys304=) c.279G= (p.Lys93=) c.*847G= (n.*847G=) | |
2 | g.15945614G>T | CA345931871 | MYCN | n.261G>T c.912G>T (p.Lys304Asn) c.279G>T (p.Lys93Asn) c.*847G>T (n.*847G>T) | |
2 | g.15945615A>C | CA345931872 | MYCN | n.262A>C c.913A>C (p.Asn305His) c.280A>C (p.Asn94His) c.*848A>C (n.*848A>C) | |
2 | g.15945615A>G | CA345931873 | MYCN | n.262A>G c.913A>G (p.Asn305Asp) c.280A>G (p.Asn94Asp) c.*848A>G (n.*848A>G) | |
2 | g.15945615A>T | CA345931874 | MYCN | n.262A>T c.913A>T (p.Asn305Tyr) c.280A>T (p.Asn94Tyr) c.*848A>T (n.*848A>T) | |
2 | g.15945616A>C | CA345931875 | MYCN | n.263A>C c.914A>C (p.Asn305Thr) c.281A>C (p.Asn94Thr) c.*849A>C (n.*849A>C) | |
2 | g.15945616A>G | CA345931876 | MYCN | n.263A>G c.914A>G (p.Asn305Ser) c.281A>G (p.Asn94Ser) c.*849A>G (n.*849A>G) | |
2 | g.15945616A>T | CA345931877 | MYCN | n.263A>T c.914A>T (p.Asn305Ile) c.281A>T (p.Asn94Ile) c.*849A>T (n.*849A>T) | |
2 | g.15945617C>A | CA345931878 | MYCN | n.264C>A c.915C>A (p.Asn305Lys) c.282C>A (p.Asn94Lys) c.*850C>A (n.*850C>A) | |
2 | g.15945617C= | CA2491131108 | MYCN | n.264C= c.915C= (p.Asn305=) c.282C= (p.Asn94=) c.*850C= (n.*850C=) | |
2 | g.15945617C>G | CA1538275 | MYCN | n.264C>G c.915C>G (p.Asn305Lys) c.282C>G (p.Asn94Lys) c.*850C>G (n.*850C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15945617C>T | CA1538274 | MYCN | n.264C>T c.915C>T (p.Asn305=) c.282C>T (p.Asn94=) c.*850C>T (n.*850C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.15945617_15945618insT | CA2586968718 | MYCN | n.264_265insT c.915_916insT (p.Ala306CysfsTer?) c.282_283insT (p.Ala95CysfsTer?) c.*850_*851insT (n.*850_*851insT) | |
2 | g.15945618G>A | CA1538276 | MYCN | n.265G>A c.916G>A (p.Ala306Thr) c.283G>A (p.Ala95Thr) c.*851G>A (n.*851G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945618G>C | CA345931879 | MYCN | n.265G>C c.916G>C (p.Ala306Pro) c.283G>C (p.Ala95Pro) c.*851G>C (n.*851G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945618G= | CA2491131109 | MYCN | n.265G= c.916G= (p.Ala306=) c.283G= (p.Ala95=) c.*851G= (n.*851G=) | |
2 | g.15945618G>T | CA345931880 | MYCN | n.265G>T c.916G>T (p.Ala306Ser) c.283G>T (p.Ala95Ser) c.*851G>T (n.*851G>T) | |
2 | g.15945619C>A | CA345931883 | MYCN | n.266C>A c.917C>A (p.Ala306Glu) c.284C>A (p.Ala95Glu) c.*852C>A (n.*852C>A) | |
2 | g.15945619C>G | CA345931882 | MYCN | n.266C>G c.917C>G (p.Ala306Gly) c.284C>G (p.Ala95Gly) c.*852C>G (n.*852C>G) | |
2 | g.15945619C>T | CA345931881 | MYCN | n.266C>T c.917C>T (p.Ala306Val) c.284C>T (p.Ala95Val) c.*852C>T (n.*852C>T) | |
2 | g.15945620A= | CA2491131110 | MYCN | n.267A= c.918A= (p.Ala306=) c.285A= (p.Ala95=) c.*853A= (n.*853A=) | |
2 | g.15945620A>C | CA425092515 | MYCN | n.267A>C c.918A>C (p.Ala306=) c.285A>C (p.Ala95=) c.*853A>C (n.*853A>C) | |
2 | g.15945620A>G | CA1538277 | MYCN | n.267A>G c.918A>G (p.Ala306=) c.285A>G (p.Ala95=) c.*853A>G (n.*853A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15945620A>T | CA425092514 | MYCN | n.267A>T c.918A>T (p.Ala306=) c.285A>T (p.Ala95=) c.*853A>T (n.*853A>T) | |
2 | g.15945621G>A | CA345931884 | MYCN | n.268G>A c.919G>A (p.Ala307Thr) c.286G>A (p.Ala96Thr) c.*854G>A (n.*854G>A) | dbSNP COSMIC |
2 | g.15945621G>C | CA345931885 | MYCN | n.268G>C c.919G>C (p.Ala307Pro) c.286G>C (p.Ala96Pro) c.*854G>C (n.*854G>C) | dbSNP |
2 | g.15945621G>T | CA345931886 | MYCN | n.268G>T c.919G>T (p.Ala307Ser) c.286G>T (p.Ala96Ser) c.*854G>T (n.*854G>T) | gnomAD v4 |
2 | g.15945622C>A | CA345931887 | MYCN | n.269C>A c.920C>A (p.Ala307Asp) c.287C>A (p.Ala96Asp) c.*855C>A (n.*855C>A) | dbSNP |
2 | g.15945622C= | CA2491131111 | MYCN | n.269C= c.920C= (p.Ala307=) c.287C= (p.Ala96=) c.*855C= (n.*855C=) | |
2 | g.15945622C>G | CA345931888 | MYCN | n.269C>G c.920C>G (p.Ala307Gly) c.287C>G (p.Ala96Gly) c.*855C>G (n.*855C>G) | |
2 | g.15945622C>T | CA1538278 | MYCN | n.269C>T c.920C>T (p.Ala307Val) c.287C>T (p.Ala96Val) c.*855C>T (n.*855C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15945623C>A | CA425092516 | MYCN | n.270C>A c.921C>A (p.Ala307=) c.288C>A (p.Ala96=) c.*856C>A (n.*856C>A) | |
2 | g.15945623C= | CA2491131112 | MYCN | n.270C= c.921C= (p.Ala307=) c.288C= (p.Ala96=) c.*856C= (n.*856C=) | |
2 | g.15945623C>G | CA425092517 | MYCN | n.270C>G c.921C>G (p.Ala307=) c.288C>G (p.Ala96=) c.*856C>G (n.*856C>G) | |
2 | g.15945623C>T | CA1538279 | MYCN | n.270C>T c.921C>T (p.Ala307=) c.288C>T (p.Ala96=) c.*856C>T (n.*856C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945624C>A | CA345931889 | MYCN | n.271C>A c.922C>A (p.Leu308Met) c.289C>A (p.Leu97Met) c.*857C>A (n.*857C>A) | |
2 | g.15945624C= | CA2491131113 | MYCN | n.271C= c.922C= (p.Leu308=) c.289C= (p.Leu97=) c.*857C= (n.*857C=) | |
2 | g.15945624C>G | CA345931890 | MYCN | n.271C>G c.922C>G (p.Leu308Val) c.289C>G (p.Leu97Val) c.*857C>G (n.*857C>G) | |
2 | g.15945624C>T | CA1538280 | MYCN | n.271C>T c.922C>T (p.Leu308=) c.289C>T (p.Leu97=) c.*857C>T (n.*857C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945625T>A | CA345931891 | MYCN | n.272T>A c.923T>A (p.Leu308Gln) c.290T>A (p.Leu97Gln) c.*858T>A (n.*858T>A) | |
2 | g.15945625T>C | CA345931892 | MYCN | n.272T>C c.923T>C (p.Leu308Pro) c.290T>C (p.Leu97Pro) c.*858T>C (n.*858T>C) | |
2 | g.15945625T>G | CA345931893 | MYCN | n.272T>G c.923T>G (p.Leu308Arg) c.290T>G (p.Leu97Arg) c.*858T>G (n.*858T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15945625T= | CA2491131114 | MYCN | n.272T= c.923T= (p.Leu308=) c.290T= (p.Leu97=) c.*858T= (n.*858T=) | |
2 | g.15945625_15945627dup | CA2657954653 | MYCN | n.272_274dup c.923_925dup (p.Leu308_Gly309insVal) c.290_292dup (p.Leu97_Gly98insVal) c.*858_*860dup (n.*858_*860dup) | gnomAD v4 |
2 | g.15945626G>A | CA425092518 | MYCN | n.273G>A c.924G>A (p.Leu308=) c.291G>A (p.Leu97=) c.*859G>A (n.*859G>A) | dbSNP |
2 | g.15945626G>C | CA425092519 | MYCN | n.273G>C c.924G>C (p.Leu308=) c.291G>C (p.Leu97=) c.*859G>C (n.*859G>C) | |
2 | g.15945626G= | CA2491131115 | MYCN | n.273G= c.924G= (p.Leu308=) c.291G= (p.Leu97=) c.*859G= (n.*859G=) | |
2 | g.15945626G>T | CA425092520 | MYCN | n.273G>T c.924G>T (p.Leu308=) c.291G>T (p.Leu97=) c.*859G>T (n.*859G>T) | |
2 | g.15945627G>A | CA345931896 | MYCN | n.274G>A c.925G>A (p.Gly309Ser) c.292G>A (p.Gly98Ser) c.*860G>A (n.*860G>A) | |
2 | g.15945627G>C | CA345931895 | MYCN | n.274G>C c.925G>C (p.Gly309Arg) c.292G>C (p.Gly98Arg) c.*860G>C (n.*860G>C) | |
2 | g.15945627G>T | CA345931894 | MYCN | n.274G>T c.925G>T (p.Gly309Cys) c.292G>T (p.Gly98Cys) c.*860G>T (n.*860G>T) | |
2 | g.15945628G>A | CA345931897 | MYCN | n.275G>A c.926G>A (p.Gly309Asp) c.293G>A (p.Gly98Asp) c.*861G>A (n.*861G>A) | |
2 | g.15945628G>C | CA345931898 | MYCN | n.275G>C c.926G>C (p.Gly309Ala) c.293G>C (p.Gly98Ala) c.*861G>C (n.*861G>C) | |
2 | g.15945628G= | CA2491131116 | MYCN | n.275G= c.926G= (p.Gly309=) c.293G= (p.Gly98=) c.*861G= (n.*861G=) | |
2 | g.15945628G>T | CA345931899 | MYCN | n.275G>T c.926G>T (p.Gly309Val) c.293G>T (p.Gly98Val) c.*861G>T (n.*861G>T) | dbSNP gnomAD v4 |
2 | g.15945628_15945629dup | CA2586968719 | MYCN | n.275_276dup c.926_927dup (p.Pro310ValfsTer10) c.293_294dup (p.Pro99ValfsTer10) c.*861_*862dup (n.*861_*862dup) | |
2 | g.15945629T>A | CA425092521 | MYCN | n.276T>A c.927T>A (p.Gly309=) c.294T>A (p.Gly98=) c.*862T>A (n.*862T>A) | |
2 | g.15945629T>C | CA425092522 | MYCN | n.276T>C c.927T>C (p.Gly309=) c.294T>C (p.Gly98=) c.*862T>C (n.*862T>C) | |
2 | g.15945629T>G | CA425092523 | MYCN | n.276T>G c.927T>G (p.Gly309=) c.294T>G (p.Gly98=) c.*862T>G (n.*862T>G) | |
2 | g.15945630C>A | CA345931900 | MYCN | n.277C>A c.928C>A (p.Pro310Thr) c.295C>A (p.Pro99Thr) c.*863C>A (n.*863C>A) | dbSNP |
2 | g.15945630C>G | CA345931901 | MYCN | n.277C>G c.928C>G (p.Pro310Ala) c.295C>G (p.Pro99Ala) c.*863C>G (n.*863C>G) | |
2 | g.15945630C>T | CA345931902 | MYCN | n.277C>T c.928C>T (p.Pro310Ser) c.295C>T (p.Pro99Ser) c.*863C>T (n.*863C>T) | |
2 | g.15945631C>A | CA345931903 | MYCN | n.278C>A c.929C>A (p.Pro310His) c.296C>A (p.Pro99His) c.*864C>A (n.*864C>A) | |
2 | g.15945631C>G | CA345931904 | MYCN | n.278C>G c.929C>G (p.Pro310Arg) c.296C>G (p.Pro99Arg) c.*864C>G (n.*864C>G) | |
2 | g.15945631C>T | CA345931905 | MYCN | n.278C>T c.929C>T (p.Pro310Leu) c.296C>T (p.Pro99Leu) c.*864C>T (n.*864C>T) | dbSNP |
2 | g.15945632C>A | CA425092524 | MYCN | n.279C>A c.930C>A (p.Pro310=) c.297C>A (p.Pro99=) c.*865C>A (n.*865C>A) | dbSNP |
2 | g.15945632C= | CA2491131117 | MYCN | n.279C= c.930C= (p.Pro310=) c.297C= (p.Pro99=) c.*865C= (n.*865C=) | |
2 | g.15945632C>G | CA43192478 | MYCN | n.279C>G c.930C>G (p.Pro310=) c.297C>G (p.Pro99=) c.*865C>G (n.*865C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945632C>T | CA1538281 | MYCN | n.279C>T c.930C>T (p.Pro310=) c.297C>T (p.Pro99=) c.*865C>T (n.*865C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945633G>A | CA345931906 | MYCN | n.280G>A c.931G>A (p.Gly311Arg) c.298G>A (p.Gly100Arg) c.*866G>A (n.*866G>A) | dbSNP gnomAD v4 |
2 | g.15945633G>C | CA345931907 | MYCN | n.280G>C c.931G>C (p.Gly311Arg) c.298G>C (p.Gly100Arg) c.*866G>C (n.*866G>C) | |
2 | g.15945633G>T | CA345931908 | MYCN | n.280G>T c.931G>T (p.Gly311Trp) c.298G>T (p.Gly100Trp) c.*866G>T (n.*866G>T) | gnomAD v4 |
2 | g.15945634G>A | CA345931911 | MYCN | n.281G>A c.932G>A (p.Gly311Glu) c.299G>A (p.Gly100Glu) c.*867G>A (n.*867G>A) | dbSNP |
2 | g.15945634G>C | CA345931910 | MYCN | n.281G>C c.932G>C (p.Gly311Ala) c.299G>C (p.Gly100Ala) c.*867G>C (n.*867G>C) | dbSNP gnomAD v4 |
2 | g.15945634G= | CA2491131118 | MYCN | n.281G= c.932G= (p.Gly311=) c.299G= (p.Gly100=) c.*867G= (n.*867G=) | |
2 | g.15945634G>T | CA345931909 | MYCN | n.281G>T c.932G>T (p.Gly311Val) c.299G>T (p.Gly100Val) c.*867G>T (n.*867G>T) | |
2 | g.15945635G>A | CA425092525 | MYCN | n.282G>A c.933G>A (p.Gly311=) c.300G>A (p.Gly100=) c.*868G>A (n.*868G>A) | |
2 | g.15945635G>C | CA425092526 | MYCN | n.282G>C c.933G>C (p.Gly311=) c.300G>C (p.Gly100=) c.*868G>C (n.*868G>C) | |
2 | g.15945635G>T | CA425092527 | MYCN | n.282G>T c.933G>T (p.Gly311=) c.300G>T (p.Gly100=) c.*868G>T (n.*868G>T) | |
2 | g.15945636A>C | CA425092528 | MYCN | n.283A>C c.934A>C (p.Arg312=) c.301A>C (p.Arg101=) c.*869A>C (n.*869A>C) | |
2 | g.15945636A>G | CA345931912 | MYCN | n.283A>G c.934A>G (p.Arg312Gly) c.301A>G (p.Arg101Gly) c.*869A>G (n.*869A>G) | |
2 | g.15945636A>T | CA345931913 | MYCN | n.283A>T c.934A>T (p.Arg312Trp) c.301A>T (p.Arg101Trp) c.*869A>T (n.*869A>T) | |
2 | g.15945637G>A | CA1538282 | MYCN | n.284G>A c.935G>A (p.Arg312Lys) c.302G>A (p.Arg101Lys) c.*870G>A (n.*870G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945637G>C | CA1538283 | MYCN | n.284G>C c.935G>C (p.Arg312Thr) c.302G>C (p.Arg101Thr) c.*870G>C (n.*870G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945637G= | CA2491131119 | MYCN | n.284G= c.935G= (p.Arg312=) c.302G= (p.Arg101=) c.*870G= (n.*870G=) | |
2 | g.15945637G>T | CA345931914 | MYCN | n.284G>T c.935G>T (p.Arg312Met) c.302G>T (p.Arg101Met) c.*870G>T (n.*870G>T) | |
2 | g.15945638G>A | CA425092529 | MYCN | n.285G>A c.936G>A (p.Arg312=) c.303G>A (p.Arg101=) c.*871G>A (n.*871G>A) | |
2 | g.15945638G>C | CA345931915 | MYCN | n.285G>C c.936G>C (p.Arg312Ser) c.303G>C (p.Arg101Ser) c.*871G>C (n.*871G>C) | |
2 | g.15945638G>T | CA345931916 | MYCN | n.285G>T c.936G>T (p.Arg312Ser) c.303G>T (p.Arg101Ser) c.*871G>T (n.*871G>T) | |
2 | g.15945639G>A | CA345931917 | MYCN | n.286G>A c.937G>A (p.Ala313Thr) c.304G>A (p.Ala102Thr) c.*872G>A (n.*872G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15945639G>C | CA345931918 | MYCN | n.286G>C c.937G>C (p.Ala313Pro) c.304G>C (p.Ala102Pro) c.*872G>C (n.*872G>C) | |
2 | g.15945639G= | CA2491131120 | MYCN | n.286G= c.937G= (p.Ala313=) c.304G= (p.Ala102=) c.*872G= (n.*872G=) | |
2 | g.15945639G>T | CA43192479 | MYCN | n.286G>T c.937G>T (p.Ala313Ser) c.304G>T (p.Ala102Ser) c.*872G>T (n.*872G>T) | ClinVar dbSNP |
2 | g.15945640C>A | CA345931919 | MYCN | n.287C>A c.938C>A (p.Ala313Asp) c.305C>A (p.Ala102Asp) c.*873C>A (n.*873C>A) | |
2 | g.15945640C>G | CA345931920 | MYCN | n.287C>G c.938C>G (p.Ala313Gly) c.305C>G (p.Ala102Gly) c.*873C>G (n.*873C>G) | |
2 | g.15945640C>T | CA345931921 | MYCN | n.287C>T c.938C>T (p.Ala313Val) c.305C>T (p.Ala102Val) c.*873C>T (n.*873C>T) | dbSNP |
2 | g.15945641T>A | CA425092530 | MYCN | n.288T>A c.939T>A (p.Ala313=) c.306T>A (p.Ala102=) c.*874T>A (n.*874T>A) | |
2 | g.15945641T>C | CA425092531 | MYCN | n.288T>C c.939T>C (p.Ala313=) c.306T>C (p.Ala102=) c.*874T>C (n.*874T>C) | dbSNP |
2 | g.15945641T>G | CA425092532 | MYCN | n.288T>G c.939T>G (p.Ala313=) c.306T>G (p.Ala102=) c.*874T>G (n.*874T>G) | |
2 | g.15945642C>A | CA345931923 | MYCN | n.289C>A c.940C>A (p.Gln314Lys) c.307C>A (p.Gln103Lys) c.*875C>A (n.*875C>A) | dbSNP |
2 | g.15945642C>G | CA345931924 | MYCN | n.289C>G c.940C>G (p.Gln314Glu) c.307C>G (p.Gln103Glu) c.*875C>G (n.*875C>G) | |
2 | g.15945642C>T | CA345931922 | MYCN | n.289C>T c.940C>T (p.Gln314Ter) c.307C>T (p.Gln103Ter) c.*875C>T (n.*875C>T) | |
2 | g.15945643A>C | CA345931925 | MYCN | n.290A>C c.941A>C (p.Gln314Pro) c.308A>C (p.Gln103Pro) c.*876A>C (n.*876A>C) | |
2 | g.15945643A>G | CA345931926 | MYCN | n.290A>G c.941A>G (p.Gln314Arg) c.308A>G (p.Gln103Arg) c.*876A>G (n.*876A>G) | gnomAD v4 |
2 | g.15945643A>T | CA345931927 | MYCN | n.290A>T c.941A>T (p.Gln314Leu) c.308A>T (p.Gln103Leu) c.*876A>T (n.*876A>T) | |
2 | g.15945644G>A | CA425092533 | MYCN | n.291G>A c.942G>A (p.Gln314=) c.309G>A (p.Gln103=) c.*877G>A (n.*877G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15945644G>C | CA345931928 | MYCN | n.291G>C c.942G>C (p.Gln314His) c.309G>C (p.Gln103His) c.*877G>C (n.*877G>C) | |
2 | g.15945644G= | CA2491131121 | MYCN | n.291G= c.942G= (p.Gln314=) c.309G= (p.Gln103=) c.*877G= (n.*877G=) | |
2 | g.15945644G>T | CA345931929 | MYCN | n.291G>T c.942G>T (p.Gln314His) c.309G>T (p.Gln103His) c.*877G>T (n.*877G>T) | gnomAD v4 |
2 | g.15945645T>A | CA345931932 | MYCN | n.292T>A c.943T>A (p.Ser315Thr) c.310T>A (p.Ser104Thr) c.*878T>A (n.*878T>A) | |
2 | g.15945645T>C | CA345931931 | MYCN | n.292T>C c.943T>C (p.Ser315Pro) c.310T>C (p.Ser104Pro) c.*878T>C (n.*878T>C) | |
2 | g.15945645T>G | CA345931930 | MYCN | n.292T>G c.943T>G (p.Ser315Ala) c.310T>G (p.Ser104Ala) c.*878T>G (n.*878T>G) | |
2 | g.15945646C>A | CA345931933 | MYCN | n.293C>A c.944C>A (p.Ser315Tyr) c.311C>A (p.Ser104Tyr) c.*879C>A (n.*879C>A) | dbSNP |
2 | g.15945646C>G | CA345931934 | MYCN | n.293C>G c.944C>G (p.Ser315Cys) c.311C>G (p.Ser104Cys) c.*879C>G (n.*879C>G) | dbSNP |
2 | g.15945646C>T | CA345931935 | MYCN | n.293C>T c.944C>T (p.Ser315Phe) c.311C>T (p.Ser104Phe) c.*879C>T (n.*879C>T) | gnomAD v4 COSMIC |
2 | g.15945647C>A | CA425092534 | MYCN | n.294C>A c.945C>A (p.Ser315=) c.312C>A (p.Ser104=) c.*880C>A (n.*880C>A) | |
2 | g.15945647C>G | CA425092535 | MYCN | n.294C>G c.945C>G (p.Ser315=) c.312C>G (p.Ser104=) c.*880C>G (n.*880C>G) | |
2 | g.15945647C>T | CA425092536 | MYCN | n.294C>T c.945C>T (p.Ser315=) c.312C>T (p.Ser104=) c.*880C>T (n.*880C>T) | |
2 | g.15945648A>C | CA345931936 | MYCN | n.295A>C c.946A>C (p.Ser316Arg) c.313A>C (p.Ser105Arg) c.*881A>C (n.*881A>C) | |
2 | g.15945648A>G | CA345931937 | MYCN | n.295A>G c.946A>G (p.Ser316Gly) c.313A>G (p.Ser105Gly) c.*881A>G (n.*881A>G) | |
2 | g.15945648A>T | CA345931938 | MYCN | n.295A>T c.946A>T (p.Ser316Cys) c.313A>T (p.Ser105Cys) c.*881A>T (n.*881A>T) | |
2 | g.15945649G>A | CA345931941 | MYCN | n.296G>A c.947G>A (p.Ser316Asn) c.314G>A (p.Ser105Asn) c.*882G>A (n.*882G>A) | |
2 | g.15945649G>C | CA345931939 | MYCN | n.296G>C c.947G>C (p.Ser316Thr) c.314G>C (p.Ser105Thr) c.*882G>C (n.*882G>C) | |
2 | g.15945649G>T | CA345931940 | MYCN | n.296G>T c.947G>T (p.Ser316Ile) c.314G>T (p.Ser105Ile) c.*882G>T (n.*882G>T) | |
2 | g.15945650C>A | CA1538284 | MYCN | n.297C>A c.948C>A (p.Ser316Arg) c.315C>A (p.Ser105Arg) c.*883C>A (n.*883C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15945650C= | CA2491131122 | MYCN | n.297C= c.948C= (p.Ser316=) c.315C= (p.Ser105=) c.*883C= (n.*883C=) | |
2 | g.15945650C>G | CA43192480 | MYCN | n.297C>G c.948C>G (p.Ser316Arg) c.315C>G (p.Ser105Arg) c.*883C>G (n.*883C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945650C>T | CA1538285 | MYCN | n.297C>T c.948C>T (p.Ser316=) c.315C>T (p.Ser105=) c.*883C>T (n.*883C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15945651G>A | CA345931942 | MYCN | n.298G>A c.949G>A (p.Glu317Lys) c.316G>A (p.Glu106Lys) c.*884G>A (n.*884G>A) | dbSNP gnomAD v4 COSMIC |
2 | g.15945651G>C | CA1538286 | MYCN | n.298G>C c.949G>C (p.Glu317Gln) c.316G>C (p.Glu106Gln) c.*884G>C (n.*884G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945651G= | CA2491131123 | MYCN | n.298G= c.949G= (p.Glu317=) c.316G= (p.Glu106=) c.*884G= (n.*884G=) | |
2 | g.15945651G>T | CA345931943 | MYCN | n.298G>T c.949G>T (p.Glu317Ter) c.316G>T (p.Glu106Ter) c.*884G>T (n.*884G>T) | |
2 | g.15945652_15945653dup | CA2580063670 | MYCN | n.299_300dup c.950_951dup (p.Leu318SerfsTer2) c.317_318dup (p.Leu107SerfsTer2) c.*885_*886dup (n.*885_*886dup) | ClinVar |
2 | g.15945652A>C | CA345931944 | MYCN | n.299A>C c.950A>C (p.Glu317Ala) c.317A>C (p.Glu106Ala) c.*885A>C (n.*885A>C) | |
2 | g.15945652A>G | CA345931945 | MYCN | n.299A>G c.950A>G (p.Glu317Gly) c.317A>G (p.Glu106Gly) c.*885A>G (n.*885A>G) | |
2 | g.15945652A>T | CA345931946 | MYCN | n.299A>T c.950A>T (p.Glu317Val) c.317A>T (p.Glu106Val) c.*885A>T (n.*885A>T) | |
2 | g.15945653G>A | CA425092537 | MYCN | n.300G>A c.951G>A (p.Glu317=) c.318G>A (p.Glu106=) c.*886G>A (n.*886G>A) | gnomAD v4 |
2 | g.15945653G>C | CA345931947 | MYCN | n.300G>C c.951G>C (p.Glu317Asp) c.318G>C (p.Glu106Asp) c.*886G>C (n.*886G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15945653G= | CA2491131124 | MYCN | n.300G= c.951G= (p.Glu317=) c.318G= (p.Glu106=) c.*886G= (n.*886G=) | |
2 | g.15945653G>T | CA345931948 | MYCN | n.300G>T c.951G>T (p.Glu317Asp) c.318G>T (p.Glu106Asp) c.*886G>T (n.*886G>T) | |
2 | g.15945654C>A | CA345931949 | MYCN | n.301C>A c.952C>A (p.Leu318Met) c.319C>A (p.Leu107Met) c.*887C>A (n.*887C>A) | gnomAD v4 |
2 | g.15945654C>G | CA345931950 | MYCN | n.301C>G c.952C>G (p.Leu318Val) c.319C>G (p.Leu107Val) c.*887C>G (n.*887C>G) | |
2 | g.15945654C>T | CA425092538 | MYCN | n.301C>T c.952C>T (p.Leu318=) c.319C>T (p.Leu107=) c.*887C>T (n.*887C>T) | dbSNP |
2 | g.15945655T>A | CA345931951 | MYCN | n.302T>A c.953T>A (p.Leu318Gln) c.320T>A (p.Leu107Gln) c.*888T>A (n.*888T>A) | |
2 | g.15945655T>C | CA345931953 | MYCN | n.302T>C c.953T>C (p.Leu318Pro) c.320T>C (p.Leu107Pro) c.*888T>C (n.*888T>C) | |
2 | g.15945655T>G | CA345931952 | MYCN | n.302T>G c.953T>G (p.Leu318Arg) c.320T>G (p.Leu107Arg) c.*888T>G (n.*888T>G) | |
2 | g.15945656G>A | CA425092539 | MYCN | n.303G>A c.954G>A (p.Leu318=) c.321G>A (p.Leu107=) c.*889G>A (n.*889G>A) | dbSNP |
2 | g.15945656G>C | CA425092540 | MYCN | n.303G>C c.954G>C (p.Leu318=) c.321G>C (p.Leu107=) c.*889G>C (n.*889G>C) | |
2 | g.15945656G>T | CA425092541 | MYCN | n.303G>T c.954G>T (p.Leu318=) c.321G>T (p.Leu107=) c.*889G>T (n.*889G>T) | |
2 | g.15945657A>C | CA345931954 | MYCN | n.304A>C c.955A>C (p.Ile319Leu) c.322A>C (p.Ile108Leu) c.*890A>C (n.*890A>C) | |
2 | g.15945657A>G | CA345931955 | MYCN | n.304A>G c.955A>G (p.Ile319Val) c.322A>G (p.Ile108Val) c.*890A>G (n.*890A>G) | |
2 | g.15945657A>T | CA345931956 | MYCN | n.304A>T c.955A>T (p.Ile319Phe) c.322A>T (p.Ile108Phe) c.*890A>T (n.*890A>T) | |
2 | g.15945658T>A | CA345931957 | MYCN | n.305T>A c.956T>A (p.Ile319Asn) c.323T>A (p.Ile108Asn) c.*891T>A (n.*891T>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15945658T>C | CA345931958 | MYCN | n.305T>C c.956T>C (p.Ile319Thr) c.323T>C (p.Ile108Thr) c.*891T>C (n.*891T>C) | |
2 | g.15945658T>G | CA345931959 | MYCN | n.305T>G c.956T>G (p.Ile319Ser) c.323T>G (p.Ile108Ser) c.*891T>G (n.*891T>G) | |
2 | g.15945658T= | CA2491131125 | MYCN | n.305T= c.956T= (p.Ile319=) c.323T= (p.Ile108=) c.*891T= (n.*891T=) | |
2 | g.15945659C>A | CA425092542 | MYCN | n.306C>A c.957C>A (p.Ile319=) c.324C>A (p.Ile108=) c.*892C>A (n.*892C>A) | |
2 | g.15945659C>G | CA345931960 | MYCN | n.306C>G c.957C>G (p.Ile319Met) c.324C>G (p.Ile108Met) c.*892C>G (n.*892C>G) | dbSNP |
2 | g.15945659C>T | CA425092543 | MYCN | n.306C>T c.957C>T (p.Ile319=) c.324C>T (p.Ile108=) c.*892C>T (n.*892C>T) | COSMIC |
2 | g.15945660C>A | CA345931961 | MYCN | n.307C>A c.958C>A (p.Leu320Ile) c.325C>A (p.Leu109Ile) c.*893C>A (n.*893C>A) | |
2 | g.15945660C= | CA2491131126 | MYCN | n.307C= c.958C= (p.Leu320=) c.325C= (p.Leu109=) c.*893C= (n.*893C=) | |
2 | g.15945660C>G | CA345931962 | MYCN | n.307C>G c.958C>G (p.Leu320Val) c.325C>G (p.Leu109Val) c.*893C>G (n.*893C>G) | |
2 | g.15945660C>T | CA345931963 | MYCN | n.307C>T c.958C>T (p.Leu320Phe) c.325C>T (p.Leu109Phe) c.*893C>T (n.*893C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945661T>A | CA345931964 | MYCN | n.308T>A c.959T>A (p.Leu320His) c.326T>A (p.Leu109His) c.*894T>A (n.*894T>A) | |
2 | g.15945661T>C | CA345931965 | MYCN | n.308T>C c.959T>C (p.Leu320Pro) c.326T>C (p.Leu109Pro) c.*894T>C (n.*894T>C) | |
2 | g.15945661T>G | CA345931966 | MYCN | n.308T>G c.959T>G (p.Leu320Arg) c.326T>G (p.Leu109Arg) c.*894T>G (n.*894T>G) | |
2 | g.15945662C>A | CA425092544 | MYCN | n.309C>A c.960C>A (p.Leu320=) c.327C>A (p.Leu109=) c.*895C>A (n.*895C>A) | |
2 | g.15945662C>G | CA425092545 | MYCN | n.309C>G c.960C>G (p.Leu320=) c.327C>G (p.Leu109=) c.*895C>G (n.*895C>G) | |
2 | g.15945662C>T | CA425092546 | MYCN | n.309C>T c.960C>T (p.Leu320=) c.327C>T (p.Leu109=) c.*895C>T (n.*895C>T) | dbSNP |
2 | g.15945663A= | CA2491131127 | MYCN | n.310A= c.961A= (p.Lys321=) c.328A= (p.Lys110=) c.*896A= (n.*896A=) | |
2 | g.15945663A>C | CA345931967 | MYCN | n.310A>C c.961A>C (p.Lys321Gln) c.328A>C (p.Lys110Gln) c.*896A>C (n.*896A>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15945663A>G | CA345931969 | MYCN | n.310A>G c.961A>G (p.Lys321Glu) c.328A>G (p.Lys110Glu) c.*896A>G (n.*896A>G) | |
2 | g.15945663A>T | CA345931968 | MYCN | n.310A>T c.961A>T (p.Lys321Ter) c.328A>T (p.Lys110Ter) c.*896A>T (n.*896A>T) | |
2 | g.15945665dup | CA2573051678 | MYCN | n.312dup c.963dup (p.Arg322ThrfsTer21) c.330dup (p.Arg111ThrfsTer21) c.*898dup (n.*898dup) | ClinVar dbSNP |
2 | g.15945664A= | CA2491131128 | MYCN | n.311A= c.962A= (p.Lys321=) c.329A= (p.Lys110=) c.*897A= (n.*897A=) | |
2 | g.15945664A>C | CA345931970 | MYCN | n.311A>C c.962A>C (p.Lys321Thr) c.329A>C (p.Lys110Thr) c.*897A>C (n.*897A>C) | |
2 | g.15945664A>G | CA1538287 | MYCN | n.311A>G c.962A>G (p.Lys321Arg) c.329A>G (p.Lys110Arg) c.*897A>G (n.*897A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.15945664A>T | CA345931971 | MYCN | n.311A>T c.962A>T (p.Lys321Ile) c.329A>T (p.Lys110Ile) c.*897A>T (n.*897A>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15945665A>C | CA345931972 | MYCN | n.312A>C c.963A>C (p.Lys321Asn) c.330A>C (p.Lys110Asn) c.*898A>C (n.*898A>C) | |
2 | g.15945665A>G | CA425092547 | MYCN | n.312A>G c.963A>G (p.Lys321=) c.330A>G (p.Lys110=) c.*898A>G (n.*898A>G) | |
2 | g.15945665A>T | CA345931973 | MYCN | n.312A>T c.963A>T (p.Lys321Asn) c.330A>T (p.Lys110Asn) c.*898A>T (n.*898A>T) |