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