Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.15945666C>A | CA425092548 | MYCN | n.313C>A c.964C>A (p.Arg322=) c.331C>A (p.Arg111=) c.*899C>A (n.*899C>A) | dbSNP gnomAD v4 |
2 | g.15945666C= | CA2491131129 | MYCN | n.313C= c.964C= (p.Arg322=) c.331C= (p.Arg111=) c.*899C= (n.*899C=) | |
2 | g.15945666C>G | CA1538288 | MYCN | n.313C>G c.964C>G (p.Arg322Gly) c.331C>G (p.Arg111Gly) c.*899C>G (n.*899C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15945666C>T | CA345931974 | MYCN | n.313C>T c.964C>T (p.Arg322Ter) c.331C>T (p.Arg111Ter) c.*899C>T (n.*899C>T) | ClinVar dbSNP |
2 | g.15945667G>A | CA345931975 | MYCN | n.314G>A c.965G>A (p.Arg322Gln) c.332G>A (p.Arg111Gln) c.*900G>A (n.*900G>A) | dbSNP gnomAD v4 COSMIC |
2 | g.15945667G>C | CA345931976 | MYCN | n.314G>C c.965G>C (p.Arg322Pro) c.332G>C (p.Arg111Pro) c.*900G>C (n.*900G>C) | gnomAD v4 |
2 | g.15945667G>T | CA345931977 | MYCN | n.314G>T c.965G>T (p.Arg322Leu) c.332G>T (p.Arg111Leu) c.*900G>T (n.*900G>T) | |
2 | g.15945668A>C | CA425092549 | MYCN | n.315A>C c.966A>C (p.Arg322=) c.333A>C (p.Arg111=) c.*901A>C (n.*901A>C) | |
2 | g.15945668A>G | CA425092550 | MYCN | n.315A>G c.966A>G (p.Arg322=) c.333A>G (p.Arg111=) c.*901A>G (n.*901A>G) | |
2 | g.15945668A>T | CA425092551 | MYCN | n.315A>T c.966A>T (p.Arg322=) c.333A>T (p.Arg111=) c.*901A>T (n.*901A>T) | |
2 | g.15945669T>A | CA345931978 | MYCN | n.316T>A c.967T>A (p.Cys323Ser) c.334T>A (p.Cys112Ser) c.*902T>A (n.*902T>A) | |
2 | g.15945669T>C | CA43192481 | MYCN | n.316T>C c.967T>C (p.Cys323Arg) c.334T>C (p.Cys112Arg) c.*902T>C (n.*902T>C) | dbSNP |
2 | g.15945669T>G | CA345931979 | MYCN | n.316T>G c.967T>G (p.Cys323Gly) c.334T>G (p.Cys112Gly) c.*902T>G (n.*902T>G) | |
2 | g.15945669T= | CA2491131130 | MYCN | n.316T= c.967T= (p.Cys323=) c.334T= (p.Cys112=) c.*902T= (n.*902T=) | |
2 | g.15945670G>A | CA345931980 | MYCN | n.317G>A c.968G>A (p.Cys323Tyr) c.335G>A (p.Cys112Tyr) c.*903G>A (n.*903G>A) | gnomAD v4 |
2 | g.15945670G>C | CA345931982 | MYCN | n.317G>C c.968G>C (p.Cys323Ser) c.335G>C (p.Cys112Ser) c.*903G>C (n.*903G>C) | |
2 | g.15945670G= | CA2491131131 | MYCN | n.317G= c.968G= (p.Cys323=) c.335G= (p.Cys112=) c.*903G= (n.*903G=) | |
2 | g.15945670G>T | CA345931981 | MYCN | n.317G>T c.968G>T (p.Cys323Phe) c.335G>T (p.Cys112Phe) c.*903G>T (n.*903G>T) | dbSNP |
2 | g.15945671C>A | CA345931983 | MYCN | n.318C>A c.969C>A (p.Cys323Ter) c.336C>A (p.Cys112Ter) c.*904C>A (n.*904C>A) | dbSNP |
2 | g.15945671C= | CA2491131132 | MYCN | n.318C= c.969C= (p.Cys323=) c.336C= (p.Cys112=) c.*904C= (n.*904C=) | |
2 | g.15945671C>G | CA345931984 | MYCN | n.318C>G c.969C>G (p.Cys323Trp) c.336C>G (p.Cys112Trp) c.*904C>G (n.*904C>G) | |
2 | g.15945671C>T | CA1538289 | MYCN | n.318C>T c.969C>T (p.Cys323=) c.336C>T (p.Cys112=) c.*904C>T (n.*904C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945672C>A | CA345931985 | MYCN | n.319C>A c.970C>A (p.Leu324Ile) c.337C>A (p.Leu113Ile) c.*905C>A (n.*905C>A) | |
2 | g.15945672C= | CA2491131133 | MYCN | n.319C= c.970C= (p.Leu324=) c.337C= (p.Leu113=) c.*905C= (n.*905C=) | |
2 | g.15945672C>G | CA345931986 | MYCN | n.319C>G c.970C>G (p.Leu324Val) c.337C>G (p.Leu113Val) c.*905C>G (n.*905C>G) | |
2 | g.15945672C>T | CA345931987 | MYCN | n.319C>T c.970C>T (p.Leu324Phe) c.337C>T (p.Leu113Phe) c.*905C>T (n.*905C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945673T>A | CA345931988 | MYCN | n.320T>A c.971T>A (p.Leu324His) c.338T>A (p.Leu113His) c.*906T>A (n.*906T>A) | |
2 | g.15945673T>C | CA345931989 | MYCN | n.320T>C c.971T>C (p.Leu324Pro) c.338T>C (p.Leu113Pro) c.*906T>C (n.*906T>C) | |
2 | g.15945673T>G | CA345931990 | MYCN | n.320T>G c.971T>G (p.Leu324Arg) c.338T>G (p.Leu113Arg) c.*906T>G (n.*906T>G) | |
2 | g.15945674T>A | CA425092552 | MYCN | n.321T>A c.972T>A (p.Leu324=) c.339T>A (p.Leu113=) c.*907T>A (n.*907T>A) | gnomAD v4 |
2 | g.15945674T>C | CA425092553 | MYCN | n.321T>C c.972T>C (p.Leu324=) c.339T>C (p.Leu113=) c.*907T>C (n.*907T>C) | gnomAD v4 |
2 | g.15945674T>G | CA425092554 | MYCN | n.321T>G c.972T>G (p.Leu324=) c.339T>G (p.Leu113=) c.*907T>G (n.*907T>G) | |
2 | g.15945675C>A | CA345931991 | MYCN | n.322C>A c.973C>A (p.Pro325Thr) c.340C>A (p.Pro114Thr) c.*908C>A (n.*908C>A) | dbSNP |
2 | g.15945675C>G | CA345931992 | MYCN | n.322C>G c.973C>G (p.Pro325Ala) c.340C>G (p.Pro114Ala) c.*908C>G (n.*908C>G) | |
2 | g.15945675C>T | CA345931993 | MYCN | n.322C>T c.973C>T (p.Pro325Ser) c.340C>T (p.Pro114Ser) c.*908C>T (n.*908C>T) | dbSNP |
2 | g.15945676C>A | CA345931996 | MYCN | n.323C>A c.974C>A (p.Pro325His) c.341C>A (p.Pro114His) c.*909C>A (n.*909C>A) | |
2 | g.15945676C>G | CA345931995 | MYCN | n.323C>G c.974C>G (p.Pro325Arg) c.341C>G (p.Pro114Arg) c.*909C>G (n.*909C>G) | |
2 | g.15945676C>T | CA345931994 | MYCN | n.323C>T c.974C>T (p.Pro325Leu) c.341C>T (p.Pro114Leu) c.*909C>T (n.*909C>T) | |
2 | g.15945677C>A | CA43192482 | MYCN | n.324C>A c.975C>A (p.Pro325=) c.342C>A (p.Pro114=) c.*910C>A (n.*910C>A) | dbSNP gnomAD v4 |
2 | g.15945677C= | CA2491131134 | MYCN | n.324C= c.975C= (p.Pro325=) c.342C= (p.Pro114=) c.*910C= (n.*910C=) | |
2 | g.15945677C>G | CA425092555 | MYCN | n.324C>G c.975C>G (p.Pro325=) c.342C>G (p.Pro114=) c.*910C>G (n.*910C>G) | |
2 | g.15945677C>T | CA425092556 | MYCN | n.324C>T c.975C>T (p.Pro325=) c.342C>T (p.Pro114=) c.*910C>T (n.*910C>T) | |
2 | g.15945678A>C | CA345931997 | MYCN | n.325A>C c.976A>C (p.Ile326Leu) c.343A>C (p.Ile115Leu) c.*911A>C (n.*911A>C) | |
2 | g.15945678A>G | CA345931998 | MYCN | n.325A>G c.976A>G (p.Ile326Val) c.343A>G (p.Ile115Val) c.*911A>G (n.*911A>G) | gnomAD v4 |
2 | g.15945678A>T | CA345931999 | MYCN | n.325A>T c.976A>T (p.Ile326Phe) c.343A>T (p.Ile115Phe) c.*911A>T (n.*911A>T) | |
2 | g.15945679T>A | CA345932000 | MYCN | n.326T>A c.977T>A (p.Ile326Asn) c.344T>A (p.Ile115Asn) c.*912T>A (n.*912T>A) | |
2 | g.15945679T>C | CA345932001 | MYCN | n.326T>C c.977T>C (p.Ile326Thr) c.344T>C (p.Ile115Thr) c.*912T>C (n.*912T>C) | |
2 | g.15945679T>G | CA345932002 | MYCN | n.326T>G c.977T>G (p.Ile326Ser) c.344T>G (p.Ile115Ser) c.*912T>G (n.*912T>G) | |
2 | g.15945680C>A | CA425092558 | MYCN | n.327C>A c.978C>A (p.Ile326=) c.345C>A (p.Ile115=) c.*913C>A (n.*913C>A) | dbSNP |
2 | g.15945680C= | CA2491131135 | MYCN | n.327C= c.978C= (p.Ile326=) c.345C= (p.Ile115=) c.*913C= (n.*913C=) | |
2 | g.15945680C>G | CA345932003 | MYCN | n.327C>G c.978C>G (p.Ile326Met) c.345C>G (p.Ile115Met) c.*913C>G (n.*913C>G) | |
2 | g.15945680C>T | CA425092557 | MYCN | n.327C>T c.978C>T (p.Ile326=) c.345C>T (p.Ile115=) c.*913C>T (n.*913C>T) | |
2 | g.15945681C>A | CA345932004 | MYCN | n.328C>A c.979C>A (p.His327Asn) c.346C>A (p.His116Asn) c.*914C>A (n.*914C>A) | |
2 | g.15945681C>G | CA345932005 | MYCN | n.328C>G c.979C>G (p.His327Asp) c.346C>G (p.His116Asp) c.*914C>G (n.*914C>G) | |
2 | g.15945681C>T | CA345932006 | MYCN | n.328C>T c.979C>T (p.His327Tyr) c.346C>T (p.His116Tyr) c.*914C>T (n.*914C>T) | |
2 | g.15945684_15945692dup | CA1538290 | MYCN | n.331_339dup c.982_990dup (p.His330_Asn331insGlnGlnHis) c.349_357dup (p.His119_Asn120insGlnGlnHis) c.*917_*925dup (n.*917_*925dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15945682A>C | CA345932008 | MYCN | n.329A>C c.980A>C (p.His327Pro) c.347A>C (p.His116Pro) c.*915A>C (n.*915A>C) | |
2 | g.15945682A>G | CA345932009 | MYCN | n.329A>G c.980A>G (p.His327Arg) c.347A>G (p.His116Arg) c.*915A>G (n.*915A>G) | gnomAD v4 |
2 | g.15945682A>T | CA345932007 | MYCN | n.329A>T c.980A>T (p.His327Leu) c.347A>T (p.His116Leu) c.*915A>T (n.*915A>T) | |
2 | g.15945683C>A | CA345932010 | MYCN | n.330C>A c.981C>A (p.His327Gln) c.348C>A (p.His116Gln) c.*916C>A (n.*916C>A) | gnomAD v4 |
2 | g.15945683C= | CA2491131136 | MYCN | n.330C= c.981C= (p.His327=) c.348C= (p.His116=) c.*916C= (n.*916C=) | |
2 | g.15945683C>G | CA345932011 | MYCN | n.330C>G c.981C>G (p.His327Gln) c.348C>G (p.His116Gln) c.*916C>G (n.*916C>G) | dbSNP |
2 | g.15945683C>T | CA425092559 | MYCN | n.330C>T c.981C>T (p.His327=) c.348C>T (p.His116=) c.*916C>T (n.*916C>T) | dbSNP gnomAD v4 |
2 | g.15945684C>A | CA345932012 | MYCN | n.331C>A c.982C>A (p.Gln328Lys) c.349C>A (p.Gln117Lys) c.*917C>A (n.*917C>A) | |
2 | g.15945684C>G | CA345932013 | MYCN | n.331C>G c.982C>G (p.Gln328Glu) c.349C>G (p.Gln117Glu) c.*917C>G (n.*917C>G) | gnomAD v4 |
2 | g.15945684C>T | CA345932014 | MYCN | n.331C>T c.982C>T (p.Gln328Ter) c.349C>T (p.Gln117Ter) c.*917C>T (n.*917C>T) | dbSNP |
2 | g.15945685A>C | CA345932015 | MYCN | n.332A>C c.983A>C (p.Gln328Pro) c.350A>C (p.Gln117Pro) c.*918A>C (n.*918A>C) | |
2 | g.15945685A>G | CA345932016 | MYCN | n.332A>G c.983A>G (p.Gln328Arg) c.350A>G (p.Gln117Arg) c.*918A>G (n.*918A>G) | |
2 | g.15945685A>T | CA345932017 | MYCN | n.332A>T c.983A>T (p.Gln328Leu) c.350A>T (p.Gln117Leu) c.*918A>T (n.*918A>T) | |
2 | g.15945686G>A | CA1538291 | MYCN | n.333G>A c.984G>A (p.Gln328=) c.351G>A (p.Gln117=) c.*919G>A (n.*919G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945686G>C | CA345932018 | MYCN | n.333G>C c.984G>C (p.Gln328His) c.351G>C (p.Gln117His) c.*919G>C (n.*919G>C) | |
2 | g.15945686G= | CA2491131137 | MYCN | n.333G= c.984G= (p.Gln328=) c.351G= (p.Gln117=) c.*919G= (n.*919G=) | |
2 | g.15945686G>T | CA345932019 | MYCN | n.333G>T c.984G>T (p.Gln328His) c.351G>T (p.Gln117His) c.*919G>T (n.*919G>T) | |
2 | g.15945687C>A | CA345932022 | MYCN | n.334C>A c.985C>A (p.Gln329Lys) c.352C>A (p.Gln118Lys) c.*920C>A (n.*920C>A) | |
2 | g.15945687C>G | CA345932021 | MYCN | n.334C>G c.985C>G (p.Gln329Glu) c.352C>G (p.Gln118Glu) c.*920C>G (n.*920C>G) | |
2 | g.15945687C>T | CA345932020 | MYCN | n.334C>T c.985C>T (p.Gln329Ter) c.352C>T (p.Gln118Ter) c.*920C>T (n.*920C>T) | dbSNP |
2 | g.15945688A>C | CA345932023 | MYCN | n.335A>C c.986A>C (p.Gln329Pro) c.353A>C (p.Gln118Pro) c.*921A>C (n.*921A>C) | |
2 | g.15945688A>G | CA345932024 | MYCN | n.335A>G c.986A>G (p.Gln329Arg) c.353A>G (p.Gln118Arg) c.*921A>G (n.*921A>G) | |
2 | g.15945688A>T | CA345932025 | MYCN | n.335A>T c.986A>T (p.Gln329Leu) c.353A>T (p.Gln118Leu) c.*921A>T (n.*921A>T) | |
2 | g.15945689G>A | CA425092560 | MYCN | n.336G>A c.987G>A (p.Gln329=) c.354G>A (p.Gln118=) c.*922G>A (n.*922G>A) | dbSNP |
2 | g.15945689G>C | CA345932026 | MYCN | n.336G>C c.987G>C (p.Gln329His) c.354G>C (p.Gln118His) c.*922G>C (n.*922G>C) | |
2 | g.15945689G= | CA2491131138 | MYCN | n.336G= c.987G= (p.Gln329=) c.354G= (p.Gln118=) c.*922G= (n.*922G=) | |
2 | g.15945689G>T | CA345932027 | MYCN | n.336G>T c.987G>T (p.Gln329His) c.354G>T (p.Gln118His) c.*922G>T (n.*922G>T) | |
2 | g.15945690C>A | CA345932028 | MYCN | n.337C>A c.988C>A (p.His330Asn) c.355C>A (p.His119Asn) c.*923C>A (n.*923C>A) | |
2 | g.15945690C>G | CA345932029 | MYCN | n.337C>G c.988C>G (p.His330Asp) c.355C>G (p.His119Asp) c.*923C>G (n.*923C>G) | |
2 | g.15945690C>T | CA345932030 | MYCN | n.337C>T c.988C>T (p.His330Tyr) c.355C>T (p.His119Tyr) c.*923C>T (n.*923C>T) | |
2 | g.15945691A>C | CA345932031 | MYCN | n.338A>C c.989A>C (p.His330Pro) c.356A>C (p.His119Pro) c.*924A>C (n.*924A>C) | |
2 | g.15945691A>G | CA345932032 | MYCN | n.338A>G c.989A>G (p.His330Arg) c.356A>G (p.His119Arg) c.*924A>G (n.*924A>G) | |
2 | g.15945691A>T | CA345932033 | MYCN | n.338A>T c.989A>T (p.His330Leu) c.356A>T (p.His119Leu) c.*924A>T (n.*924A>T) | dbSNP |
2 | g.15945692C>A | CA345932034 | MYCN | n.339C>A c.990C>A (p.His330Gln) c.357C>A (p.His119Gln) c.*925C>A (n.*925C>A) | |
2 | g.15945692C>G | CA345932035 | MYCN | n.339C>G c.990C>G (p.His330Gln) c.357C>G (p.His119Gln) c.*925C>G (n.*925C>G) | |
2 | g.15945692C>T | CA425092561 | MYCN | n.339C>T c.990C>T (p.His330=) c.357C>T (p.His119=) c.*925C>T (n.*925C>T) | |
2 | g.15945693A>C | CA345932037 | MYCN | n.340A>C c.991A>C (p.Asn331His) c.358A>C (p.Asn120His) c.*926A>C (n.*926A>C) | |
2 | g.15945693A>G | CA345932038 | MYCN | n.340A>G c.991A>G (p.Asn331Asp) c.358A>G (p.Asn120Asp) c.*926A>G (n.*926A>G) | |
2 | g.15945693A>T | CA345932036 | MYCN | n.340A>T c.991A>T (p.Asn331Tyr) c.358A>T (p.Asn120Tyr) c.*926A>T (n.*926A>T) | |
2 | g.15945694A>C | CA345932041 | MYCN | n.341A>C c.992A>C (p.Asn331Thr) c.359A>C (p.Asn120Thr) c.*927A>C (n.*927A>C) | |
2 | g.15945694A>G | CA345932039 | MYCN | n.341A>G c.992A>G (p.Asn331Ser) c.359A>G (p.Asn120Ser) c.*927A>G (n.*927A>G) | gnomAD v4 |
2 | g.15945694A>T | CA345932040 | MYCN | n.341A>T c.992A>T (p.Asn331Ile) c.359A>T (p.Asn120Ile) c.*927A>T (n.*927A>T) | |
2 | g.15945695C>A | CA345932042 | MYCN | n.342C>A c.993C>A (p.Asn331Lys) c.360C>A (p.Asn120Lys) c.*928C>A (n.*928C>A) | |
2 | g.15945695C= | CA2491131139 | MYCN | n.342C= c.993C= (p.Asn331=) c.360C= (p.Asn120=) c.*928C= (n.*928C=) | |
2 | g.15945695C>G | CA345932043 | MYCN | n.342C>G c.993C>G (p.Asn331Lys) c.360C>G (p.Asn120Lys) c.*928C>G (n.*928C>G) | |
2 | g.15945695C>T | CA425092562 | MYCN | n.342C>T c.993C>T (p.Asn331=) c.360C>T (p.Asn120=) c.*928C>T (n.*928C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945696T>A | CA345932044 | MYCN | n.343T>A c.994T>A (p.Tyr332Asn) c.361T>A (p.Tyr121Asn) c.*929T>A (n.*929T>A) | dbSNP |
2 | g.15945696T>C | CA345932045 | MYCN | n.343T>C c.994T>C (p.Tyr332His) c.361T>C (p.Tyr121His) c.*929T>C (n.*929T>C) | |
2 | g.15945696T>G | CA345932046 | MYCN | n.343T>G c.994T>G (p.Tyr332Asp) c.361T>G (p.Tyr121Asp) c.*929T>G (n.*929T>G) | |
2 | g.15945697A>C | CA345932047 | MYCN | n.344A>C c.995A>C (p.Tyr332Ser) c.362A>C (p.Tyr121Ser) c.*930A>C (n.*930A>C) | |
2 | g.15945697A>G | CA345932048 | MYCN | n.344A>G c.995A>G (p.Tyr332Cys) c.362A>G (p.Tyr121Cys) c.*930A>G (n.*930A>G) | gnomAD v4 |
2 | g.15945697A>T | CA345932049 | MYCN | n.344A>T c.995A>T (p.Tyr332Phe) c.362A>T (p.Tyr121Phe) c.*930A>T (n.*930A>T) | |
2 | g.15945698T>A | CA345932050 | MYCN | n.345T>A c.996T>A (p.Tyr332Ter) c.363T>A (p.Tyr121Ter) c.*931T>A (n.*931T>A) | |
2 | g.15945698T>C | CA425092563 | MYCN | n.345T>C c.996T>C (p.Tyr332=) c.363T>C (p.Tyr121=) c.*931T>C (n.*931T>C) | |
2 | g.15945698T>G | CA345932051 | MYCN | n.345T>G c.996T>G (p.Tyr332Ter) c.363T>G (p.Tyr121Ter) c.*931T>G (n.*931T>G) | |
2 | g.15945699G>A | CA345932053 | MYCN | n.346G>A c.997G>A (p.Ala333Thr) c.364G>A (p.Ala122Thr) c.*932G>A (n.*932G>A) | dbSNP |
2 | g.15945699G>C | CA345932054 | MYCN | n.346G>C c.997G>C (p.Ala333Pro) c.364G>C (p.Ala122Pro) c.*932G>C (n.*932G>C) | dbSNP |
2 | g.15945699G>T | CA345932052 | MYCN | n.346G>T c.997G>T (p.Ala333Ser) c.364G>T (p.Ala122Ser) c.*932G>T (n.*932G>T) | COSMIC |
2 | g.15945700C>A | CA345932055 | MYCN | n.347C>A c.998C>A (p.Ala333Asp) c.365C>A (p.Ala122Asp) c.*933C>A (n.*933C>A) | |
2 | g.15945700C>G | CA345932056 | MYCN | n.347C>G c.998C>G (p.Ala333Gly) c.365C>G (p.Ala122Gly) c.*933C>G (n.*933C>G) | |
2 | g.15945700C>T | CA345932057 | MYCN | n.347C>T c.998C>T (p.Ala333Val) c.365C>T (p.Ala122Val) c.*933C>T (n.*933C>T) | dbSNP |
2 | g.15945701C>A | CA425092565 | MYCN | n.348C>A c.999C>A (p.Ala333=) c.366C>A (p.Ala122=) c.*934C>A (n.*934C>A) | dbSNP |
2 | g.15945701C= | CA2491131140 | MYCN | n.348C= c.999C= (p.Ala333=) c.366C= (p.Ala122=) c.*934C= (n.*934C=) | |
2 | g.15945701C>G | CA425092564 | MYCN | n.348C>G c.999C>G (p.Ala333=) c.366C>G (p.Ala122=) c.*934C>G (n.*934C>G) | |
2 | g.15945701C>T | CA1538292 | MYCN | n.348C>T c.999C>T (p.Ala333=) c.366C>T (p.Ala122=) c.*934C>T (n.*934C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945702G>A | CA1538293 | MYCN | n.349G>A c.1000G>A (p.Ala334Thr) c.367G>A (p.Ala123Thr) c.*935G>A (n.*935G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15945702G>C | CA345932059 | MYCN | n.349G>C c.1000G>C (p.Ala334Pro) c.367G>C (p.Ala123Pro) c.*935G>C (n.*935G>C) | |
2 | g.15945702G= | CA2491131141 | MYCN | n.349G= c.1000G= (p.Ala334=) c.367G= (p.Ala123=) c.*935G= (n.*935G=) | |
2 | g.15945702G>T | CA345932058 | MYCN | n.349G>T c.1000G>T (p.Ala334Ser) c.367G>T (p.Ala123Ser) c.*935G>T (n.*935G>T) | |
2 | g.15945703C>A | CA345932060 | MYCN | n.350C>A c.1001C>A (p.Ala334Asp) c.368C>A (p.Ala123Asp) c.*936C>A (n.*936C>A) | |
2 | g.15945703C>G | CA345932061 | MYCN | n.350C>G c.1001C>G (p.Ala334Gly) c.368C>G (p.Ala123Gly) c.*936C>G (n.*936C>G) | |
2 | g.15945703C>T | CA345932062 | MYCN | n.350C>T c.1001C>T (p.Ala334Val) c.368C>T (p.Ala123Val) c.*936C>T (n.*936C>T) | |
2 | g.15945707del | CA2586968720 | MYCN | n.354del c.1005del (p.Ser336LeufsTer15) c.372del (p.Ser125LeufsTer15) c.*940del (n.*940del) | |
2 | g.15945704C>A | CA425092568 | MYCN | n.351C>A c.1002C>A (p.Ala334=) c.369C>A (p.Ala123=) c.*937C>A (n.*937C>A) | |
2 | g.15945704C>G | CA425092567 | MYCN | n.351C>G c.1002C>G (p.Ala334=) c.369C>G (p.Ala123=) c.*937C>G (n.*937C>G) | |
2 | g.15945704C>T | CA425092566 | MYCN | n.351C>T c.1002C>T (p.Ala334=) c.369C>T (p.Ala123=) c.*937C>T (n.*937C>T) | |
2 | g.15945705C>A | CA345932063 | MYCN | n.352C>A c.1003C>A (p.Pro335Thr) c.370C>A (p.Pro124Thr) c.*938C>A (n.*938C>A) | |
2 | g.15945705C>G | CA345932064 | MYCN | n.352C>G c.1003C>G (p.Pro335Ala) c.370C>G (p.Pro124Ala) c.*938C>G (n.*938C>G) | |
2 | g.15945705C>T | CA345932065 | MYCN | n.352C>T c.1003C>T (p.Pro335Ser) c.370C>T (p.Pro124Ser) c.*938C>T (n.*938C>T) | dbSNP COSMIC |
2 | g.15945705_15945706delinsTT | CA2695202168 | MYCN | n.352_353delinsTT c.1003_1004delinsTT (p.Pro335Phe) c.370_371delinsTT (p.Pro124Phe) c.*938_*939delinsTT (n.*938_*939delinsTT) | |
2 | g.15945706C>A | CA345932068 | MYCN | n.353C>A c.1004C>A (p.Pro335His) c.371C>A (p.Pro124His) c.*939C>A (n.*939C>A) | gnomAD v4 |
2 | g.15945706C>G | CA345932067 | MYCN | n.353C>G c.1004C>G (p.Pro335Arg) c.371C>G (p.Pro124Arg) c.*939C>G (n.*939C>G) | |
2 | g.15945706C>T | CA345932066 | MYCN | n.353C>T c.1004C>T (p.Pro335Leu) c.371C>T (p.Pro124Leu) c.*939C>T (n.*939C>T) | COSMIC |
2 | g.15945707C>A | CA1538295 | MYCN | n.354C>A c.1005C>A (p.Pro335=) c.372C>A (p.Pro124=) c.*940C>A (n.*940C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15945707C= | CA2491131142 | MYCN | n.354C= c.1005C= (p.Pro335=) c.372C= (p.Pro124=) c.*940C= (n.*940C=) | |
2 | g.15945707C>G | CA1538294 | MYCN | n.354C>G c.1005C>G (p.Pro335=) c.372C>G (p.Pro124=) c.*940C>G (n.*940C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15945707C>T | CA425092569 | MYCN | n.354C>T c.1005C>T (p.Pro335=) c.372C>T (p.Pro124=) c.*940C>T (n.*940C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15945708del | CA2586968721 | MYCN | n.355del c.1006del (p.Ser336LeufsTer15) c.373del (p.Ser125LeufsTer15) c.*941del (n.*941del) | |
2 | g.15945708T>A | CA345932069 | MYCN | n.355T>A c.1006T>A (p.Ser336Thr) c.373T>A (p.Ser125Thr) c.*941T>A (n.*941T>A) | |
2 | g.15945708T>C | CA345932070 | MYCN | n.355T>C c.1006T>C (p.Ser336Pro) c.373T>C (p.Ser125Pro) c.*941T>C (n.*941T>C) | dbSNP COSMIC |
2 | g.15945708T>G | CA345932071 | MYCN | n.355T>G c.1006T>G (p.Ser336Ala) c.373T>G (p.Ser125Ala) c.*941T>G (n.*941T>G) | |
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 |