Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.113148966G>A | CA388791846 | F10 | c.916G>A (p.Glu306Lys) c.906G>A (p.Trp302Ter) c.912G>A (p.Trp304Ter) c.784G>A (p.Glu262Lys) | ClinVar dbSNP gnomAD v4 |
13 | g.113148966G>C | CA388791849 | F10 | c.916G>C (p.Glu306Gln) c.906G>C (p.Trp302Cys) c.912G>C (p.Trp304Cys) c.784G>C (p.Glu262Gln) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113148966G= | CA2120139907 | F10 | c.916G= (p.Glu306=) c.906G= (p.Trp302=) c.912G= (p.Trp304=) c.784G= (p.Glu262=) | |
13 | g.113148966G>T | CA388791851 | F10 | c.916G>T (p.Glu306Ter) c.906G>T (p.Trp302Cys) c.912G>T (p.Trp304Cys) c.784G>T (p.Glu262Ter) | |
13 | g.113148967A>C | CA388791856 | F10 | c.917A>C (p.Glu306Ala) c.907A>C (p.Arg303=) c.913A>C (p.Arg305=) c.785A>C (p.Glu262Ala) | |
13 | g.113148967A>G | CA388791859 | F10 | c.917A>G (p.Glu306Gly) c.907A>G (p.Arg303Gly) c.913A>G (p.Arg305Gly) c.785A>G (p.Glu262Gly) | |
13 | g.113148967A>T | CA388791868 | F10 | c.917A>T (p.Glu306Val) c.907A>T (p.Arg303Trp) c.913A>T (p.Arg305Trp) c.785A>T (p.Glu262Val) | |
13 | g.113148968G>A | CA7060638 | F10 | c.918G>A (p.Glu306=) c.908G>A (p.Arg303Lys) c.914G>A (p.Arg305Lys) c.786G>A (p.Glu262=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113148968G>C | CA388791873 | F10 | c.918G>C (p.Glu306Asp) c.908G>C (p.Arg303Thr) c.914G>C (p.Arg305Thr) c.786G>C (p.Glu262Asp) | |
13 | g.113148968G= | CA2120139911 | F10 | c.918G= (p.Glu306=) c.908G= (p.Arg303=) c.914G= (p.Arg305=) c.786G= (p.Glu262=) | |
13 | g.113148968G>T | CA388791876 | F10 | c.918G>T (p.Glu306Asp) c.908G>T (p.Arg303Met) c.914G>T (p.Arg305Met) c.786G>T (p.Glu262Asp) | gnomAD v4 |
13 | g.113148969G>A | CA388791879 | F10 | c.919G>A (p.Val307Met) c.909G>A (p.Arg303=) c.915G>A (p.Arg305=) c.787G>A (p.Val263Met) | gnomAD v4 |
13 | g.113148969G>C | CA388791882 | F10 | c.919G>C (p.Val307Leu) c.909G>C (p.Arg303Ser) c.915G>C (p.Arg305Ser) c.787G>C (p.Val263Leu) | |
13 | g.113148969G>T | CA388791889 | F10 | c.919G>T (p.Val307Leu) c.909G>T (p.Arg303Ser) c.915G>T (p.Arg305Ser) c.787G>T (p.Val263Leu) | |
13 | g.113148970T>A | CA388791898 | F10 | c.920T>A (p.Val307Glu) c.910T>A (p.Trp304Arg) c.916T>A (p.Trp306Arg) c.788T>A (p.Val263Glu) | |
13 | g.113148970T>C | CA388791893 | F10 | c.920T>C (p.Val307Ala) c.910T>C (p.Trp304Arg) c.916T>C (p.Trp306Arg) c.788T>C (p.Val263Ala) | |
13 | g.113148970T>G | CA388791896 | F10 | c.920T>G (p.Val307Gly) c.910T>G (p.Trp304Gly) c.916T>G (p.Trp306Gly) c.788T>G (p.Val263Gly) | dbSNP |
13 | g.113148970T= | CA2120139914 | F10 | c.920T= (p.Val307=) c.910T= (p.Trp304=) c.916T= (p.Trp306=) c.788T= (p.Val263=) | |
13 | g.113148971G>A | CA7060639 | F10 | c.921G>A (p.Val307=) c.911G>A (p.Trp304Ter) c.917G>A (p.Trp306Ter) c.789G>A (p.Val263=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113148971G>C | CA388791903 | F10 | c.921G>C (p.Val307=) c.911G>C (p.Trp304Ser) c.917G>C (p.Trp306Ser) c.789G>C (p.Val263=) | |
13 | g.113148971G= | CA2120139917 | F10 | c.921G= (p.Val307=) c.911G= (p.Trp304=) c.917G= (p.Trp306=) c.789G= (p.Val263=) | |
13 | g.113148971G>T | CA388791906 | F10 | c.921G>T (p.Val307=) c.911G>T (p.Trp304Leu) c.917G>T (p.Trp306Leu) c.789G>T (p.Val263=) | |
13 | g.113148972G>A | CA388791908 | F10 | c.922G>A (p.Val308Ile) c.912G>A (p.Trp304Ter) c.918G>A (p.Trp306Ter) c.790G>A (p.Val264Ile) | |
13 | g.113148972G>C | CA388791911 | F10 | c.922G>C (p.Val308Leu) c.912G>C (p.Trp304Cys) c.918G>C (p.Trp306Cys) c.790G>C (p.Val264Leu) | |
13 | g.113148972G>T | CA388791912 | F10 | c.922G>T (p.Val308Phe) c.912G>T (p.Trp304Cys) c.918G>T (p.Trp306Cys) c.790G>T (p.Val264Phe) | |
13 | g.113148973T>A | CA388791913 | F10 | c.923T>A (p.Val308Asp) c.913T>A (p.Ser305Thr) c.919T>A (p.Ser307Thr) c.791T>A (p.Val264Asp) | |
13 | g.113148973T>C | CA388791914 | F10 | c.923T>C (p.Val308Ala) c.913T>C (p.Ser305Pro) c.919T>C (p.Ser307Pro) c.791T>C (p.Val264Ala) | |
13 | g.113148973T>G | CA388791915 | F10 | c.923T>G (p.Val308Gly) c.913T>G (p.Ser305Ala) c.919T>G (p.Ser307Ala) c.791T>G (p.Val264Gly) | |
13 | g.113148976_113148978del | CA2695219009 | F10 | c.926_928del (p.Ile309del) c.916_918del (p.Ser306del) c.922_924del (p.Ser308del) c.794_796del (p.Ile265del) | |
13 | g.113148974C>A | CA388791918 | F10 | c.924C>A (p.Val308=) c.914C>A (p.Ser305Ter) c.920C>A (p.Ser307Ter) c.792C>A (p.Val264=) | |
13 | g.113148974C= | CA2120139920 | F10 | c.924C= (p.Val308=) c.914C= (p.Ser305=) c.920C= (p.Ser307=) c.792C= (p.Val264=) | |
13 | g.113148974C>G | CA388791920 | F10 | c.924C>G (p.Val308=) c.914C>G (p.Ser305Ter) c.920C>G (p.Ser307Ter) c.792C>G (p.Val264=) | |
13 | g.113148974C>T | CA7060640 | F10 | c.924C>T (p.Val308=) c.914C>T (p.Ser305Leu) c.920C>T (p.Ser307Leu) c.792C>T (p.Val264=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113148975A>C | CA388791924 | F10 | c.925A>C (p.Ile309Leu) c.915A>C (p.Ser305=) c.921A>C (p.Ser307=) c.793A>C (p.Ile265Leu) | |
13 | g.113148975A>G | CA388791926 | F10 | c.925A>G (p.Ile309Val) c.915A>G (p.Ser305=) c.921A>G (p.Ser307=) c.793A>G (p.Ile265Val) | |
13 | g.113148975A>T | CA388791923 | F10 | c.925A>T (p.Ile309Phe) c.915A>T (p.Ser305=) c.921A>T (p.Ser307=) c.793A>T (p.Ile265Phe) | |
13 | g.113148976T>A | CA388791930 | F10 | c.926T>A (p.Ile309Asn) c.916T>A (p.Ser306Thr) c.922T>A (p.Ser308Thr) c.794T>A (p.Ile265Asn) | |
13 | g.113148976T>C | CA388791931 | F10 | c.926T>C (p.Ile309Thr) c.916T>C (p.Ser306Pro) c.922T>C (p.Ser308Pro) c.794T>C (p.Ile265Thr) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113148976T>G | CA388791933 | F10 | c.926T>G (p.Ile309Ser) c.916T>G (p.Ser306Ala) c.922T>G (p.Ser308Ala) c.794T>G (p.Ile265Ser) | |
13 | g.113148976T= | CA2120139924 | F10 | c.926T= (p.Ile309=) c.916T= (p.Ser306=) c.922T= (p.Ser308=) c.794T= (p.Ile265=) | |
13 | g.113148977C>A | CA388791935 | F10 | c.927C>A (p.Ile309=) c.917C>A (p.Ser306Ter) c.923C>A (p.Ser308Ter) c.795C>A (p.Ile265=) | |
13 | g.113148977C>G | CA388791937 | F10 | c.927C>G (p.Ile309Met) c.917C>G (p.Ser306Ter) c.923C>G (p.Ser308Ter) c.795C>G (p.Ile265Met) | |
13 | g.113148977C>T | CA388791940 | F10 | c.927C>T (p.Ile309=) c.917C>T (p.Ser306Leu) c.923C>T (p.Ser308Leu) c.795C>T (p.Ile265=) | gnomAD v4 |
13 | g.113148978A>C | CA388791948 | F10 | c.928A>C (p.Lys310Gln) c.918A>C (p.Ser306=) c.924A>C (p.Ser308=) c.796A>C (p.Lys266Gln) | |
13 | g.113148978A>G | CA388791944 | F10 | c.928A>G (p.Lys310Glu) c.918A>G (p.Ser306=) c.924A>G (p.Ser308=) c.796A>G (p.Lys266Glu) | |
13 | g.113148978A>T | CA388791946 | F10 | c.928A>T (p.Lys310Ter) c.918A>T (p.Ser306=) c.924A>T (p.Ser308=) c.796A>T (p.Lys266Ter) | |
13 | g.113148979A= | CA2120139929 | F10 | c.929A= (p.Lys310=) c.919A= (p.Ser307=) c.925A= (p.Ser309=) c.797A= (p.Lys266=) | |
13 | g.113148979A>C | CA388791951 | F10 | c.929A>C (p.Lys310Thr) c.919A>C (p.Ser307Arg) c.925A>C (p.Ser309Arg) c.797A>C (p.Lys266Thr) | |
13 | g.113148979A>G | CA7060641 | F10 | c.929A>G (p.Lys310Arg) c.919A>G (p.Ser307Gly) c.925A>G (p.Ser309Gly) c.797A>G (p.Lys266Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113148979A>T | CA388791955 | F10 | c.929A>T (p.Lys310Met) c.919A>T (p.Ser307Cys) c.925A>T (p.Ser309Cys) c.797A>T (p.Lys266Met) | |
13 | g.113148980G>A | CA388791958 | F10 | c.930G>A (p.Lys310=) c.920G>A (p.Ser307Asn) c.926G>A (p.Ser309Asn) c.798G>A (p.Lys266=) | gnomAD v4 |
13 | g.113148980G>C | CA388791961 | F10 | c.930G>C (p.Lys310Asn) c.920G>C (p.Ser307Thr) c.926G>C (p.Ser309Thr) c.798G>C (p.Lys266Asn) | |
13 | g.113148980G>T | CA388791963 | F10 | c.930G>T (p.Lys310Asn) c.920G>T (p.Ser307Ile) c.926G>T (p.Ser309Ile) c.798G>T (p.Lys266Asn) | |
13 | g.113148980_113148984delinsGCACA | CA2120139934 | F10 | c.930_934delinsGCACA (p.Lys310=) c.920_924delinsGCACA (p.Ser307=) c.926_930delinsGCACA (p.Ser309=) c.798_802delinsGCACA (p.Lys266=) | |
13 | g.113148981C>A | CA388791966 | F10 | c.931C>A (p.His311Asn) c.921C>A (p.Ser307Arg) c.927C>A (p.Ser309Arg) c.799C>A (p.His267Asn) | |
13 | g.113148981C>G | CA388791971 | F10 | c.931C>G (p.His311Asp) c.921C>G (p.Ser307Arg) c.927C>G (p.Ser309Arg) c.799C>G (p.His267Asp) | |
13 | g.113148981C>T | CA388791968 | F10 | c.931C>T (p.His311Tyr) c.921C>T (p.Ser307=) c.927C>T (p.Ser309=) c.799C>T (p.His267Tyr) | |
13 | g.113148981_113148984del | CA612693661 | F10 | c.931_934del (p.His311ThrfsTer25) c.921_924del (p.Ser307ArgfsTer9) c.927_930del (p.Ser309ArgfsTer9) c.799_802del (p.His267ThrfsTer25) | dbSNP gnomAD v2 |
13 | g.113148982A>C | CA388791974 | F10 | c.932A>C (p.His311Pro) c.922A>C (p.Thr308Pro) c.928A>C (p.Thr310Pro) c.800A>C (p.His267Pro) | |
13 | g.113148982A>G | CA388791976 | F10 | c.932A>G (p.His311Arg) c.922A>G (p.Thr308Ala) c.928A>G (p.Thr310Ala) c.800A>G (p.His267Arg) | |
13 | g.113148982A>T | CA388791978 | F10 | c.932A>T (p.His311Leu) c.922A>T (p.Thr308Ser) c.928A>T (p.Thr310Ser) c.800A>T (p.His267Leu) | |
13 | g.113148983C>A | CA388791981 | F10 | c.933C>A (p.His311Gln) c.923C>A (p.Thr308Lys) c.929C>A (p.Thr310Lys) c.801C>A (p.His267Gln) | |
13 | g.113148983C>G | CA388791984 | F10 | c.933C>G (p.His311Gln) c.923C>G (p.Thr308Arg) c.929C>G (p.Thr310Arg) c.801C>G (p.His267Gln) | |
13 | g.113148983C>T | CA388791994 | F10 | c.933C>T (p.His311=) c.923C>T (p.Thr308Ile) c.929C>T (p.Thr310Ile) c.801C>T (p.His267=) | |
13 | g.113148984A>C | CA388791998 | F10 | c.934A>C (p.Asn312His) c.924A>C (p.Thr308=) c.930A>C (p.Thr310=) c.802A>C (p.Asn268His) | |
13 | g.113148984A>G | CA388792013 | F10 | c.934A>G (p.Asn312Asp) c.924A>G (p.Thr308=) c.930A>G (p.Thr310=) c.802A>G (p.Asn268Asp) | |
13 | g.113148984A>T | CA388792016 | F10 | c.934A>T (p.Asn312Tyr) c.924A>T (p.Thr308=) c.930A>T (p.Thr310=) c.802A>T (p.Asn268Tyr) | |
13 | g.113148985A>C | CA388792028 | F10 | c.935A>C (p.Asn312Thr) c.925A>C (p.Thr309Pro) c.931A>C (p.Thr311Pro) c.803A>C (p.Asn268Thr) | gnomAD v4 |
13 | g.113148985A>G | CA388792037 | F10 | c.935A>G (p.Asn312Ser) c.925A>G (p.Thr309Ala) c.931A>G (p.Thr311Ala) c.803A>G (p.Asn268Ser) | |
13 | g.113148985A>T | CA388792040 | F10 | c.935A>T (p.Asn312Ile) c.925A>T (p.Thr309Ser) c.931A>T (p.Thr311Ser) c.803A>T (p.Asn268Ile) | |
13 | g.113148986C>A | CA388792043 | F10 | c.936C>A (p.Asn312Lys) c.926C>A (p.Thr309Asn) c.932C>A (p.Thr311Asn) c.804C>A (p.Asn268Lys) | gnomAD v4 |
13 | g.113148986C>G | CA388792055 | F10 | c.936C>G (p.Asn312Lys) c.926C>G (p.Thr309Ser) c.932C>G (p.Thr311Ser) c.804C>G (p.Asn268Lys) | |
13 | g.113148986C>T | CA388792045 | F10 | c.936C>T (p.Asn312=) c.926C>T (p.Thr309Ile) c.932C>T (p.Thr311Ile) c.804C>T (p.Asn268=) | |
13 | g.113148987C>A | CA485038492 | F10 | c.937C>A (p.Arg313=) c.927C>A (p.Thr309=) c.933C>A (p.Thr311=) c.805C>A (p.Arg269=) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113148987C= | CA2120139937 | F10 | c.937C= (p.Arg313=) c.927C= (p.Thr309=) c.933C= (p.Thr311=) c.805C= (p.Arg269=) | |
13 | g.113148987C>G | CA388792058 | F10 | c.937C>G (p.Arg313Gly) c.927C>G (p.Thr309=) c.933C>G (p.Thr311=) c.805C>G (p.Arg269Gly) | |
13 | g.113148987C>T | CA7060642 | F10 | c.937C>T (p.Arg313Trp) c.927C>T (p.Thr309=) c.933C>T (p.Thr311=) c.805C>T (p.Arg269Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113148988G>A | CA7060643 | F10 | c.938G>A (p.Arg313Gln) c.928G>A (p.Gly310Ser) c.934G>A (p.Gly312Ser) c.806G>A (p.Arg269Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
13 | g.113148988G>C | CA388792070 | F10 | c.938G>C (p.Arg313Pro) c.928G>C (p.Gly310Arg) c.934G>C (p.Gly312Arg) c.806G>C (p.Arg269Pro) | |
13 | g.113148988G= | CA2120139940 | F10 | c.938G= (p.Arg313=) c.928G= (p.Gly310=) c.934G= (p.Gly312=) c.806G= (p.Arg269=) | |
13 | g.113148988G>T | CA388792073 | F10 | c.938G>T (p.Arg313Leu) c.928G>T (p.Gly310Cys) c.934G>T (p.Gly312Cys) c.806G>T (p.Arg269Leu) | |
13 | g.113148989G>A | CA388792085 | F10 | c.939G>A (p.Arg313=) c.929G>A (p.Gly310Asp) c.935G>A (p.Gly312Asp) c.807G>A (p.Arg269=) | gnomAD v4 |
13 | g.113148989G>C | CA388792081 | F10 | c.939G>C (p.Arg313=) c.929G>C (p.Gly310Ala) c.935G>C (p.Gly312Ala) c.807G>C (p.Arg269=) | |
13 | g.113148989G= | CA2120139942 | F10 | c.939G= (p.Arg313=) c.929G= (p.Gly310=) c.935G= (p.Gly312=) c.807G= (p.Arg269=) | |
13 | g.113148989G>T | CA388792078 | F10 | c.939G>T (p.Arg313=) c.929G>T (p.Gly310Val) c.935G>T (p.Gly312Val) c.807G>T (p.Arg269=) | dbSNP |
13 | g.113148990T>A | CA388792091 | F10 | c.940T>A (p.Phe314Ile) c.930T>A (p.Gly310=) c.936T>A (p.Gly312=) c.808T>A (p.Phe270Ile) | |
13 | g.113148990T>C | CA388792092 | F10 | c.940T>C (p.Phe314Leu) c.930T>C (p.Gly310=) c.936T>C (p.Gly312=) c.808T>C (p.Phe270Leu) | |
13 | g.113148990T>G | CA388792093 | F10 | c.940T>G (p.Phe314Val) c.930T>G (p.Gly310=) c.936T>G (p.Gly312=) c.808T>G (p.Phe270Val) | |
13 | g.113148991T>A | CA388792094 | F10 | c.941T>A (p.Phe314Tyr) c.931T>A (p.Ser311Thr) c.937T>A (p.Ser313Thr) c.809T>A (p.Phe270Tyr) | |
13 | g.113148991T>C | CA388792095 | F10 | c.941T>C (p.Phe314Ser) c.931T>C (p.Ser311Pro) c.937T>C (p.Ser313Pro) c.809T>C (p.Phe270Ser) | |
13 | g.113148991T>G | CA388792096 | F10 | c.941T>G (p.Phe314Cys) c.931T>G (p.Ser311Ala) c.937T>G (p.Ser313Ala) c.809T>G (p.Phe270Cys) | |
13 | g.113148992C>A | CA388792099 | F10 | c.942C>A (p.Phe314Leu) c.932C>A (p.Ser311Ter) c.938C>A (p.Ser313Ter) c.810C>A (p.Phe270Leu) | |
13 | g.113148992C>G | CA388792105 | F10 | c.942C>G (p.Phe314Leu) c.932C>G (p.Ser311Ter) c.938C>G (p.Ser313Ter) c.810C>G (p.Phe270Leu) | |
13 | g.113148992C>T | CA388792102 | F10 | c.942C>T (p.Phe314=) c.932C>T (p.Ser311Leu) c.938C>T (p.Ser313Leu) c.810C>T (p.Phe270=) | |
13 | g.113148993A>C | CA388792110 | F10 | c.943A>C (p.Thr315Pro) c.933A>C (p.Ser311=) c.939A>C (p.Ser313=) c.811A>C (p.Thr271Pro) | |
13 | g.113148993A>G | CA388792112 | F10 | c.943A>G (p.Thr315Ala) c.933A>G (p.Ser311=) c.939A>G (p.Ser313=) c.811A>G (p.Thr271Ala) | |
13 | g.113148993A>T | CA388792115 | F10 | c.943A>T (p.Thr315Ser) c.933A>T (p.Ser311=) c.939A>T (p.Ser313=) c.811A>T (p.Thr271Ser) | |
13 | g.113148994C>A | CA388792119 | F10 | c.944C>A (p.Thr315Lys) c.934C>A (p.Gln312Lys) c.940C>A (p.Gln314Lys) c.812C>A (p.Thr271Lys) | |
13 | g.113148994C= | CA2120139945 | F10 | c.944C= (p.Thr315=) c.934C= (p.Gln312=) c.940C= (p.Gln314=) c.812C= (p.Thr271=) | |
13 | g.113148994C>G | CA388792123 | F10 | c.944C>G (p.Thr315Arg) c.934C>G (p.Gln312Glu) c.940C>G (p.Gln314Glu) c.812C>G (p.Thr271Arg) | |
13 | g.113148994C>T | CA7060644 | F10 | c.944C>T (p.Thr315Ile) c.934C>T (p.Gln312Ter) c.940C>T (p.Gln314Ter) c.812C>T (p.Thr271Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113148995A>C | CA388792127 | F10 | c.945A>C (p.Thr315=) c.935A>C (p.Gln312Pro) c.941A>C (p.Gln314Pro) c.813A>C (p.Thr271=) | |
13 | g.113148995A>G | CA388792130 | F10 | c.945A>G (p.Thr315=) c.935A>G (p.Gln312Arg) c.941A>G (p.Gln314Arg) c.813A>G (p.Thr271=) | |
13 | g.113148995A>T | CA388792131 | F10 | c.945A>T (p.Thr315=) c.935A>T (p.Gln312Leu) c.941A>T (p.Gln314Leu) c.813A>T (p.Thr271=) | |
13 | g.113148996A>C | CA388792133 | F10 | c.946A>C (p.Lys316Gln) c.936A>C (p.Gln312His) c.942A>C (p.Gln314His) c.814A>C (p.Lys272Gln) | |
13 | g.113148996A>G | CA388792135 | F10 | c.946A>G (p.Lys316Glu) c.936A>G (p.Gln312=) c.942A>G (p.Gln314=) c.814A>G (p.Lys272Glu) | |
13 | g.113148996A>T | CA388792142 | F10 | c.946A>T (p.Lys316Ter) c.936A>T (p.Gln312His) c.942A>T (p.Gln314His) c.814A>T (p.Lys272Ter) | |
13 | g.113148997A= | CA2120139949 | F10 | c.947A= (p.Lys316=) c.937A= (p.Arg313=) c.943A= (p.Arg315=) c.815A= (p.Lys272=) | |
13 | g.113148997A>C | CA388792144 | F10 | c.947A>C (p.Lys316Thr) c.937A>C (p.Arg313=) c.943A>C (p.Arg315=) c.815A>C (p.Lys272Thr) | |
13 | g.113148997A>G | CA7060645 | F10 | c.947A>G (p.Lys316Arg) c.937A>G (p.Arg313Gly) c.943A>G (p.Arg315Gly) c.815A>G (p.Lys272Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113148997A>T | CA388792143 | F10 | c.947A>T (p.Lys316Met) c.937A>T (p.Arg313Trp) c.943A>T (p.Arg315Trp) c.815A>T (p.Lys272Met) | |
13 | g.113148998G>A | CA388792150 | F10 | c.948G>A (p.Lys316=) c.938G>A (p.Arg313Lys) c.944G>A (p.Arg315Lys) c.816G>A (p.Lys272=) | |
13 | g.113148998G>C | CA388792148 | F10 | c.948G>C (p.Lys316Asn) c.938G>C (p.Arg313Thr) c.944G>C (p.Arg315Thr) c.816G>C (p.Lys272Asn) | gnomAD v4 |
13 | g.113148998G>T | CA388792152 | F10 | c.948G>T (p.Lys316Asn) c.938G>T (p.Arg313Met) c.944G>T (p.Arg315Met) c.816G>T (p.Lys272Asn) | |
13 | g.113148999G>A | CA388792154 | F10 | c.949G>A (p.Glu317Lys) c.939G>A (p.Arg313=) c.945G>A (p.Arg315=) c.817G>A (p.Glu273Lys) | COSMIC |
13 | g.113148999G>C | CA388792157 | F10 | c.949G>C (p.Glu317Gln) c.939G>C (p.Arg313Ser) c.945G>C (p.Arg315Ser) c.817G>C (p.Glu273Gln) | |
13 | g.113148999G>T | CA388792156 | F10 | c.949G>T (p.Glu317Ter) c.939G>T (p.Arg313Ser) c.945G>T (p.Arg315Ser) c.817G>T (p.Glu273Ter) | |
13 | g.113149000A>C | CA388792158 | F10 | c.950A>C (p.Glu317Ala) c.940A>C (p.Arg314=) c.946A>C (p.Arg316=) c.818A>C (p.Glu273Ala) | |
13 | g.113149000A>G | CA388792160 | F10 | c.950A>G (p.Glu317Gly) c.940A>G (p.Arg314Gly) c.946A>G (p.Arg316Gly) c.818A>G (p.Glu273Gly) | |
13 | g.113149000A>T | CA388792159 | F10 | c.950A>T (p.Glu317Val) c.940A>T (p.Arg314Ter) c.946A>T (p.Arg316Ter) c.818A>T (p.Glu273Val) | |
13 | g.113149001G>A | CA388792161 | F10 | c.951G>A (p.Glu317=) c.941G>A (p.Arg314Lys) c.947G>A (p.Arg316Lys) c.819G>A (p.Glu273=) | |
13 | g.113149001G>C | CA388792164 | F10 | c.951G>C (p.Glu317Asp) c.941G>C (p.Arg314Thr) c.947G>C (p.Arg316Thr) c.819G>C (p.Glu273Asp) | |
13 | g.113149001G>T | CA388792163 | F10 | c.951G>T (p.Glu317Asp) c.941G>T (p.Arg314Ile) c.947G>T (p.Arg316Ile) c.819G>T (p.Glu273Asp) | gnomAD v4 |
13 | g.113149002A>C | CA388792166 | F10 | c.952A>C (p.Thr318Pro) c.942A>C (p.Arg314Ser) c.948A>C (p.Arg316Ser) c.820A>C (p.Thr274Pro) | |
13 | g.113149002A>G | CA388792171 | F10 | c.952A>G (p.Thr318Ala) c.942A>G (p.Arg314=) c.948A>G (p.Arg316=) c.820A>G (p.Thr274Ala) | |
13 | g.113149002A>T | CA388792168 | F10 | c.952A>T (p.Thr318Ser) c.942A>T (p.Arg314Ser) c.948A>T (p.Arg316Ser) c.820A>T (p.Thr274Ser) | |
13 | g.113149003C>A | CA388792173 | F10 | c.953C>A (p.Thr318Asn) c.943C>A (p.Pro315Thr) c.949C>A (p.Pro317Thr) c.821C>A (p.Thr274Asn) | |
13 | g.113149003C>G | CA388792175 | F10 | c.953C>G (p.Thr318Ser) c.943C>G (p.Pro315Ala) c.949C>G (p.Pro317Ala) c.821C>G (p.Thr274Ser) | gnomAD v4 |
13 | g.113149003C>T | CA388792178 | F10 | c.953C>T (p.Thr318Ile) c.943C>T (p.Pro315Ser) c.949C>T (p.Pro317Ser) c.821C>T (p.Thr274Ile) | |
13 | g.113149004C>A | CA388792180 | F10 | c.954C>A (p.Thr318=) c.944C>A (p.Pro315His) c.950C>A (p.Pro317His) c.822C>A (p.Thr274=) | |
13 | g.113149004C>G | CA388792184 | F10 | c.954C>G (p.Thr318=) c.944C>G (p.Pro315Arg) c.950C>G (p.Pro317Arg) c.822C>G (p.Thr274=) | |
13 | g.113149004C>T | CA388792187 | F10 | c.954C>T (p.Thr318=) c.944C>T (p.Pro315Leu) c.950C>T (p.Pro317Leu) c.822C>T (p.Thr274=) | |
13 | g.113149005T>A | CA388792190 | F10 | c.955T>A (p.Tyr319Asn) c.945T>A (p.Pro315=) c.951T>A (p.Pro317=) c.823T>A (p.Tyr275Asn) | |
13 | g.113149005T>C | CA256478651 | F10 | c.955T>C (p.Tyr319His) c.945T>C (p.Pro315=) c.951T>C (p.Pro317=) c.823T>C (p.Tyr275His) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113149005T>G | CA388792193 | F10 | c.955T>G (p.Tyr319Asp) c.945T>G (p.Pro315=) c.951T>G (p.Pro317=) c.823T>G (p.Tyr275Asp) | gnomAD v4 |
13 | g.113149005T= | CA2120139958 | F10 | c.955T= (p.Tyr319=) c.945T= (p.Pro315=) c.951T= (p.Pro317=) c.823T= (p.Tyr275=) | |
13 | g.113149006A>C | CA388792194 | F10 | c.956A>C (p.Tyr319Ser) c.946A>C (p.Met316Leu) c.952A>C (p.Met318Leu) c.824A>C (p.Tyr275Ser) | |
13 | g.113149006A>G | CA388792195 | F10 | c.956A>G (p.Tyr319Cys) c.946A>G (p.Met316Val) c.952A>G (p.Met318Val) c.824A>G (p.Tyr275Cys) | |
13 | g.113149006A>T | CA388792196 | F10 | c.956A>T (p.Tyr319Phe) c.946A>T (p.Met316Leu) c.952A>T (p.Met318Leu) c.824A>T (p.Tyr275Phe) | |
13 | g.113149007T>A | CA388792202 | F10 | c.957T>A (p.Tyr319Ter) c.947T>A (p.Met316Lys) c.953T>A (p.Met318Lys) c.825T>A (p.Tyr275Ter) | |
13 | g.113149007T>C | CA7060646 | F10 | c.957T>C (p.Tyr319=) c.947T>C (p.Met316Thr) c.953T>C (p.Met318Thr) c.825T>C (p.Tyr275=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149007T>G | CA388792197 | F10 | c.957T>G (p.Tyr319Ter) c.947T>G (p.Met316Arg) c.953T>G (p.Met318Arg) c.825T>G (p.Tyr275Ter) | |
13 | g.113149007T= | CA2120139963 | F10 | c.957T= (p.Tyr319=) c.947T= (p.Met316=) c.953T= (p.Met318=) c.825T= (p.Tyr275=) | |
13 | g.113149008G>A | CA388792205 | F10 | c.958G>A (p.Asp320Asn) c.948G>A (p.Met316Ile) c.954G>A (p.Met318Ile) c.826G>A (p.Asp276Asn) | dbSNP |
13 | g.113149008G>C | CA7060647 | F10 | c.958G>C (p.Asp320His) c.948G>C (p.Met316Ile) c.954G>C (p.Met318Ile) c.826G>C (p.Asp276His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149008G= | CA2120139967 | F10 | c.958G= (p.Asp320=) c.948G= (p.Met316=) c.954G= (p.Met318=) c.826G= (p.Asp276=) | |
13 | g.113149008G>T | CA388792208 | F10 | c.958G>T (p.Asp320Tyr) c.948G>T (p.Met316Ile) c.954G>T (p.Met318Ile) c.826G>T (p.Asp276Tyr) | |
13 | g.113149009A>C | CA388792211 | F10 | c.959A>C (p.Asp320Ala) c.949A>C (p.Thr317Pro) c.955A>C (p.Thr319Pro) c.827A>C (p.Asp276Ala) | |
13 | g.113149009A>G | CA388792214 | F10 | c.959A>G (p.Asp320Gly) c.949A>G (p.Thr317Ala) c.955A>G (p.Thr319Ala) c.827A>G (p.Asp276Gly) | |
13 | g.113149009A>T | CA388792217 | F10 | c.959A>T (p.Asp320Val) c.949A>T (p.Thr317Ser) c.955A>T (p.Thr319Ser) c.827A>T (p.Asp276Val) | |
13 | g.113149010C>A | CA388792224 | F10 | c.960C>A (p.Asp320Glu) c.950C>A (p.Thr317Asn) c.956C>A (p.Thr319Asn) c.828C>A (p.Asp276Glu) | |
13 | g.113149010C= | CA2120139975 | F10 | c.960C= (p.Asp320=) c.950C= (p.Thr317=) c.956C= (p.Thr319=) c.828C= (p.Asp276=) | |
13 | g.113149010C>G | CA388792226 | F10 | c.960C>G (p.Asp320Glu) c.950C>G (p.Thr317Ser) c.956C>G (p.Thr319Ser) c.828C>G (p.Asp276Glu) | |
13 | g.113149010C>T | CA7060648 | F10 | c.960C>T (p.Asp320=) c.950C>T (p.Thr317Ile) c.956C>T (p.Thr319Ile) c.828C>T (p.Asp276=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149011_113149021del | CA2575514503 | F10 | c.961_971del (p.Phe321ArgfsTer23) c.951_961del (p.Ser318ValfsTer?) c.957_967del (p.Ser320ValfsTer?) c.829_839del (p.Phe277ArgfsTer23) | gnomAD v4 |
13 | g.113149011T>A | CA7060649 | F10 | c.961T>A (p.Phe321Ile) c.951T>A (p.Thr317=) c.957T>A (p.Thr319=) c.829T>A (p.Phe277Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149011T>C | CA388792237 | F10 | c.961T>C (p.Phe321Leu) c.951T>C (p.Thr317=) c.957T>C (p.Thr319=) c.829T>C (p.Phe277Leu) | dbSNP |
13 | g.113149011T>G | CA388792238 | F10 | c.961T>G (p.Phe321Val) c.951T>G (p.Thr317=) c.957T>G (p.Thr319=) c.829T>G (p.Phe277Val) | |
13 | g.113149011T= | CA2120139981 | F10 | c.961T= (p.Phe321=) c.951T= (p.Thr317=) c.957T= (p.Thr319=) c.829T= (p.Phe277=) | |
13 | g.113149012T>A | CA388792240 | F10 | c.962T>A (p.Phe321Tyr) c.952T>A (p.Ser318Thr) c.958T>A (p.Ser320Thr) c.830T>A (p.Phe277Tyr) | |
13 | g.113149012T>C | CA388792245 | F10 | c.962T>C (p.Phe321Ser) c.952T>C (p.Ser318Pro) c.958T>C (p.Ser320Pro) c.830T>C (p.Phe277Ser) | |
13 | g.113149012T>G | CA388792243 | F10 | c.962T>G (p.Phe321Cys) c.952T>G (p.Ser318Ala) c.958T>G (p.Ser320Ala) c.830T>G (p.Phe277Cys) | |
13 | g.113149013C>A | CA388792248 | F10 | c.963C>A (p.Phe321Leu) c.953C>A (p.Ser318Ter) c.959C>A (p.Ser320Ter) c.831C>A (p.Phe277Leu) | gnomAD v4 |
13 | g.113149013C= | CA2120139987 | F10 | c.963C= (p.Phe321=) c.953C= (p.Ser318=) c.959C= (p.Ser320=) c.831C= (p.Phe277=) | |
13 | g.113149013C>G | CA388792251 | F10 | c.963C>G (p.Phe321Leu) c.953C>G (p.Ser318Trp) c.959C>G (p.Ser320Trp) c.831C>G (p.Phe277Leu) | |
13 | g.113149013C>T | CA7060650 | F10 | c.963C>T (p.Phe321=) c.953C>T (p.Ser318Leu) c.959C>T (p.Ser320Leu) c.831C>T (p.Phe277=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149014G>A | CA256478655 | F10 | c.964G>A (p.Asp322Asn) c.954G>A (p.Ser318=) c.960G>A (p.Ser320=) c.832G>A (p.Asp278Asn) | ClinVar dbSNP gnomAD v4 |
13 | g.113149014G>C | CA388792256 | F10 | c.964G>C (p.Asp322His) c.954G>C (p.Ser318=) c.960G>C (p.Ser320=) c.832G>C (p.Asp278His) | gnomAD v4 |
13 | g.113149014G= | CA2120139988 | F10 | c.964G= (p.Asp322=) c.954G= (p.Ser318=) c.960G= (p.Ser320=) c.832G= (p.Asp278=) | |
13 | g.113149014G>T | CA388792258 | F10 | c.964G>T (p.Asp322Tyr) c.954G>T (p.Ser318=) c.960G>T (p.Ser320=) c.832G>T (p.Asp278Tyr) | |
13 | g.113149015A>C | CA388792260 | F10 | c.965A>C (p.Asp322Ala) c.955A>C (p.Thr319Pro) c.961A>C (p.Thr321Pro) c.833A>C (p.Asp278Ala) | |
13 | g.113149015A>G | CA388792263 | F10 | c.965A>G (p.Asp322Gly) c.955A>G (p.Thr319Ala) c.961A>G (p.Thr321Ala) c.833A>G (p.Asp278Gly) | |
13 | g.113149015A>T | CA388792265 | F10 | c.965A>T (p.Asp322Val) c.955A>T (p.Thr319Ser) c.961A>T (p.Thr321Ser) c.833A>T (p.Asp278Val) | |
13 | g.113149016C>A | CA7060651 | F10 | c.966C>A (p.Asp322Glu) c.956C>A (p.Thr319Lys) c.962C>A (p.Thr321Lys) c.834C>A (p.Asp278Glu) | dbSNP ExAC gnomAD v2 |
13 | g.113149016C= | CA2120139990 | F10 | c.966C= (p.Asp322=) c.956C= (p.Thr319=) c.962C= (p.Thr321=) c.834C= (p.Asp278=) | |
13 | g.113149016C>G | CA388792270 | F10 | c.966C>G (p.Asp322Glu) c.956C>G (p.Thr319Arg) c.962C>G (p.Thr321Arg) c.834C>G (p.Asp278Glu) | gnomAD v4 |
13 | g.113149016C>T | CA388792271 | F10 | c.966C>T (p.Asp322=) c.956C>T (p.Thr319Ile) c.962C>T (p.Thr321Ile) c.834C>T (p.Asp278=) | |
13 | g.113149017A>C | CA388792273 | F10 | c.967A>C (p.Ile323Leu) c.957A>C (p.Thr319=) c.963A>C (p.Thr321=) c.835A>C (p.Ile279Leu) | |
13 | g.113149017A>G | CA388792277 | F10 | c.967A>G (p.Ile323Val) c.957A>G (p.Thr319=) c.963A>G (p.Thr321=) c.835A>G (p.Ile279Val) | |
13 | g.113149017A>T | CA388792275 | F10 | c.967A>T (p.Ile323Phe) c.957A>T (p.Thr319=) c.963A>T (p.Thr321=) c.835A>T (p.Ile279Phe) | |
13 | g.113149018T>A | CA388792279 | F10 | c.968T>A (p.Ile323Asn) c.958T>A (p.Ser320Thr) c.964T>A (p.Ser322Thr) c.836T>A (p.Ile279Asn) | |
13 | g.113149018T>C | CA388792282 | F10 | c.968T>C (p.Ile323Thr) c.958T>C (p.Ser320Pro) c.964T>C (p.Ser322Pro) c.836T>C (p.Ile279Thr) | |
13 | g.113149018T>G | CA388792285 | F10 | c.968T>G (p.Ile323Ser) c.958T>G (p.Ser320Ala) c.964T>G (p.Ser322Ala) c.836T>G (p.Ile279Ser) | |
13 | g.113149019C>A | CA388792288 | F10 | c.969C>A (p.Ile323=) c.959C>A (p.Ser320Ter) c.965C>A (p.Ser322Ter) c.837C>A (p.Ile279=) | |
13 | g.113149019C= | CA2120139995 | F10 | c.969C= (p.Ile323=) c.959C= (p.Ser320=) c.965C= (p.Ser322=) c.837C= (p.Ile279=) | |
13 | g.113149019C>G | CA388792290 | F10 | c.969C>G (p.Ile323Met) c.959C>G (p.Ser320Trp) c.965C>G (p.Ser322Trp) c.837C>G (p.Ile279Met) | COSMIC |
13 | g.113149019C>T | CA388792292 | F10 | c.969C>T (p.Ile323=) c.959C>T (p.Ser320Leu) c.965C>T (p.Ser322Leu) c.837C>T (p.Ile279=) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149020G>A | CA388792299 | F10 | c.970G>A (p.Ala324Thr) c.960G>A (p.Ser320=) c.966G>A (p.Ser322=) c.838G>A (p.Ala280Thr) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149020G>C | CA388792302 | F10 | c.970G>C (p.Ala324Pro) c.960G>C (p.Ser320=) c.966G>C (p.Ser322=) c.838G>C (p.Ala280Pro) | dbSNP gnomAD v4 |
13 | g.113149020G= | CA2120139997 | F10 | c.970G= (p.Ala324=) c.960G= (p.Ser320=) c.966G= (p.Ser322=) c.838G= (p.Ala280=) | |
13 | g.113149020G>T | CA388792305 | F10 | c.970G>T (p.Ala324Ser) c.960G>T (p.Ser320=) c.966G>T (p.Ser322=) c.838G>T (p.Ala280Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149021C>A | CA388792311 | F10 | c.971C>A (p.Ala324Asp) c.961C>A (p.Pro321Thr) c.967C>A (p.Pro323Thr) c.839C>A (p.Ala280Asp) | |
13 | g.113149021C>G | CA388792313 | F10 | c.971C>G (p.Ala324Gly) c.961C>G (p.Pro321Ala) c.967C>G (p.Pro323Ala) c.839C>G (p.Ala280Gly) | |
13 | g.113149021C>T | CA388792309 | F10 | c.971C>T (p.Ala324Val) c.961C>T (p.Pro321Ser) c.967C>T (p.Pro323Ser) c.839C>T (p.Ala280Val) | |
13 | g.113149022C>A | CA388792315 | F10 | c.972C>A (p.Ala324=) c.962C>A (p.Pro321Gln) c.968C>A (p.Pro323Gln) c.840C>A (p.Ala280=) | |
13 | g.113149022C= | CA2120140001 | F10 | c.972C= (p.Ala324=) c.962C= (p.Pro321=) c.968C= (p.Pro323=) c.840C= (p.Ala280=) | |
13 | g.113149022C>G | CA7060652 | F10 | c.972C>G (p.Ala324=) c.962C>G (p.Pro321Arg) c.968C>G (p.Pro323Arg) c.840C>G (p.Ala280=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149022C>T | CA7060653 | F10 | c.972C>T (p.Ala324=) c.962C>T (p.Pro321Leu) c.968C>T (p.Pro323Leu) c.840C>T (p.Ala280=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149023G>A | CA7060654 | F10 | c.973G>A (p.Val325Met) c.963G>A (p.Pro321=) c.969G>A (p.Pro323=) c.841G>A (p.Val281Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149023G>C | CA388792319 | F10 | c.973G>C (p.Val325Leu) c.963G>C (p.Pro321=) c.969G>C (p.Pro323=) c.841G>C (p.Val281Leu) | gnomAD v4 |
13 | g.113149023G= | CA2120140006 | F10 | c.973G= (p.Val325=) c.963G= (p.Pro321=) c.969G= (p.Pro323=) c.841G= (p.Val281=) | |
13 | g.113149023G>T | CA388792320 | F10 | c.973G>T (p.Val325Leu) c.963G>T (p.Pro321=) c.969G>T (p.Pro323=) c.841G>T (p.Val281Leu) | |
13 | g.113149024T>A | CA388792321 | F10 | c.974T>A (p.Val325Glu) c.964T>A (p.Cys322Ser) c.970T>A (p.Cys324Ser) c.842T>A (p.Val281Glu) | gnomAD v4 |
13 | g.113149024T>C | CA388792322 | F10 | c.974T>C (p.Val325Ala) c.964T>C (p.Cys322Arg) c.970T>C (p.Cys324Arg) c.842T>C (p.Val281Ala) | |
13 | g.113149024T>G | CA388792323 | F10 | c.974T>G (p.Val325Gly) c.964T>G (p.Cys322Gly) c.970T>G (p.Cys324Gly) c.842T>G (p.Val281Gly) | |
13 | g.113149025G>A | CA388792326 | F10 | c.975G>A (p.Val325=) c.965G>A (p.Cys322Tyr) c.971G>A (p.Cys324Tyr) c.843G>A (p.Val281=) | |
13 | g.113149025G>C | CA388792328 | F10 | c.975G>C (p.Val325=) c.965G>C (p.Cys322Ser) c.971G>C (p.Cys324Ser) c.843G>C (p.Val281=) | |
13 | g.113149025G>T | CA388792329 | F10 | c.975G>T (p.Val325=) c.965G>T (p.Cys322Phe) c.971G>T (p.Cys324Phe) c.843G>T (p.Val281=) | gnomAD v4 |
13 | g.113149026C>A | CA388792334 | F10 | c.976C>A (p.Leu326Ile) c.966C>A (p.Cys322Ter) c.972C>A (p.Cys324Ter) c.844C>A (p.Leu282Ile) | |
13 | g.113149026C= | CA2120140010 | F10 | c.976C= (p.Leu326=) c.966C= (p.Cys322=) c.972C= (p.Cys324=) c.844C= (p.Leu282=) | |
13 | g.113149026C>G | CA7060655 | F10 | c.976C>G (p.Leu326Val) c.966C>G (p.Cys322Trp) c.972C>G (p.Cys324Trp) c.844C>G (p.Leu282Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149026C>T | CA388792332 | F10 | c.976C>T (p.Leu326Phe) c.966C>T (p.Cys322=) c.972C>T (p.Cys324=) c.844C>T (p.Leu282Phe) | gnomAD v4 |
13 | g.113149027T>A | CA388792337 | F10 | c.977T>A (p.Leu326His) c.967T>A (p.Ser323Thr) c.973T>A (p.Ser325Thr) c.845T>A (p.Leu282His) | |
13 | g.113149027T>C | CA388792338 | F10 | c.977T>C (p.Leu326Pro) c.967T>C (p.Ser323Pro) c.973T>C (p.Ser325Pro) c.845T>C (p.Leu282Pro) | |
13 | g.113149027T>G | CA388792343 | F10 | c.977T>G (p.Leu326Arg) c.967T>G (p.Ser323Ala) c.973T>G (p.Ser325Ala) c.845T>G (p.Leu282Arg) | |
13 | g.113149028C>A | CA388792345 | F10 | c.978C>A (p.Leu326=) c.968C>A (p.Ser323Tyr) c.974C>A (p.Ser325Tyr) c.846C>A (p.Leu282=) | |
13 | g.113149028C= | CA2120140015 | F10 | c.978C= (p.Leu326=) c.968C= (p.Ser323=) c.974C= (p.Ser325=) c.846C= (p.Leu282=) | |
13 | g.113149028C>G | CA388792347 | F10 | c.978C>G (p.Leu326=) c.968C>G (p.Ser323Cys) c.974C>G (p.Ser325Cys) c.846C>G (p.Leu282=) | |
13 | g.113149028C>T | CA388792349 | F10 | c.978C>T (p.Leu326=) c.968C>T (p.Ser323Phe) c.974C>T (p.Ser325Phe) c.846C>T (p.Leu282=) | gnomAD v4 |
13 | g.113149029C>A | CA485424050 | F10 | c.979C>A (p.Arg327=) c.969C>A (p.Ser323=) c.975C>A (p.Ser325=) c.847C>A (p.Arg283=) | |
13 | g.113149029C= | CA2120140018 | F10 | c.979C= (p.Arg327=) c.969C= (p.Ser323=) c.975C= (p.Ser325=) c.847C= (p.Arg283=) | |
13 | g.113149029C>G | CA388792352 | F10 | c.979C>G (p.Arg327Gly) c.969C>G (p.Ser323=) c.975C>G (p.Ser325=) c.847C>G (p.Arg283Gly) | |
13 | g.113149029C>T | CA7060656 | F10 | c.979C>T (p.Arg327Trp) c.969C>T (p.Ser323=) c.975C>T (p.Ser325=) c.847C>T (p.Arg283Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149029_113149030dup | CA612868318 | F10 | c.979_980dup (p.Leu328GlyfsTer10) c.969_970dup (p.Gly324AlafsTer21) c.975_976dup (p.Gly326AlafsTer21) c.847_848dup (p.Leu284GlyfsTer10) | dbSNP gnomAD v2 |
13 | g.113149030G>A | CA7060657 | F10 | c.980G>A (p.Arg327Gln) c.970G>A (p.Gly324Ser) c.976G>A (p.Gly326Ser) c.848G>A (p.Arg283Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149030G>C | CA388792357 | F10 | c.980G>C (p.Arg327Pro) c.970G>C (p.Gly324Arg) c.976G>C (p.Gly326Arg) c.848G>C (p.Arg283Pro) | |
13 | g.113149030G= | CA2120140022 | F10 | c.980G= (p.Arg327=) c.970G= (p.Gly324=) c.976G= (p.Gly326=) c.848G= (p.Arg283=) | |
13 | g.113149030G>T | CA388792358 | F10 | c.980G>T (p.Arg327Leu) c.970G>T (p.Gly324Cys) c.976G>T (p.Gly326Cys) c.848G>T (p.Arg283Leu) | |
13 | g.113149031G>A | CA388792361 | F10 | c.981G>A (p.Arg327=) c.971G>A (p.Gly324Asp) c.977G>A (p.Gly326Asp) c.849G>A (p.Arg283=) | |
13 | g.113149031G>C | CA388792363 | F10 | c.981G>C (p.Arg327=) c.971G>C (p.Gly324Ala) c.977G>C (p.Gly326Ala) c.849G>C (p.Arg283=) | |
13 | g.113149031G>T | CA388792364 | F10 | c.981G>T (p.Arg327=) c.971G>T (p.Gly324Val) c.977G>T (p.Gly326Val) c.849G>T (p.Arg283=) | |
13 | g.113149032C>A | CA388792367 | F10 | c.982C>A (p.Leu328Ile) c.972C>A (p.Gly324=) c.978C>A (p.Gly326=) c.850C>A (p.Leu284Ile) | |
13 | g.113149032C>G | CA388792370 | F10 | c.982C>G (p.Leu328Val) c.972C>G (p.Gly324=) c.978C>G (p.Gly326=) c.850C>G (p.Leu284Val) | |
13 | g.113149032C>T | CA388792366 | F10 | c.982C>T (p.Leu328Phe) c.972C>T (p.Gly324=) c.978C>T (p.Gly326=) c.850C>T (p.Leu284Phe) | |
13 | g.113149033T>A | CA388792373 | F10 | c.983T>A (p.Leu328His) c.973T>A (p.Ser325Thr) c.979T>A (p.Ser327Thr) c.851T>A (p.Leu284His) | |
13 | g.113149033T>C | CA388792375 | F10 | c.983T>C (p.Leu328Pro) c.973T>C (p.Ser325Pro) c.979T>C (p.Ser327Pro) c.851T>C (p.Leu284Pro) | |
13 | g.113149033T>G | CA388792377 | F10 | c.983T>G (p.Leu328Arg) c.973T>G (p.Ser325Ala) c.979T>G (p.Ser327Ala) c.851T>G (p.Leu284Arg) | |
13 | g.113149034C>A | CA388792383 | F10 | c.984C>A (p.Leu328=) c.974C>A (p.Ser325Ter) c.980C>A (p.Ser327Ter) c.852C>A (p.Leu284=) | |
13 | g.113149034C= | CA2120140026 | F10 | c.984C= (p.Leu328=) c.974C= (p.Ser325=) c.980C= (p.Ser327=) c.852C= (p.Leu284=) | |
13 | g.113149034C>G | CA388792385 | F10 | c.984C>G (p.Leu328=) c.974C>G (p.Ser325Ter) c.980C>G (p.Ser327Ter) c.852C>G (p.Leu284=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149034C>T | CA388792394 | F10 | c.984C>T (p.Leu328=) c.974C>T (p.Ser325Leu) c.980C>T (p.Ser327Leu) c.852C>T (p.Leu284=) | |
13 | g.113149036_113149044del | CA2623809556 | F10 | c.986_994del (p.Lys329_Pro331del) c.976_984del (p.Arg326_Pro328del) c.982_990del (p.Arg328_Pro330del) c.854_862del (p.Lys285_Pro287del) | gnomAD v4 |
13 | g.113149035A>C | CA388792398 | F10 | c.985A>C (p.Lys329Gln) c.975A>C (p.Ser325=) c.981A>C (p.Ser327=) c.853A>C (p.Lys285Gln) | |
13 | g.113149035A>G | CA388792400 | F10 | c.985A>G (p.Lys329Glu) c.975A>G (p.Ser325=) c.981A>G (p.Ser327=) c.853A>G (p.Lys285Glu) | |
13 | g.113149035A>T | CA388792403 | F10 | c.985A>T (p.Lys329Ter) c.975A>T (p.Ser325=) c.981A>T (p.Ser327=) c.853A>T (p.Lys285Ter) | |
13 | g.113149036A>C | CA388792406 | F10 | c.986A>C (p.Lys329Thr) c.976A>C (p.Arg326=) c.982A>C (p.Arg328=) c.854A>C (p.Lys285Thr) | |
13 | g.113149036A>G | CA388792408 | F10 | c.986A>G (p.Lys329Arg) c.976A>G (p.Arg326Gly) c.982A>G (p.Arg328Gly) c.854A>G (p.Lys285Arg) | |
13 | g.113149036A>T | CA388792411 | F10 | c.986A>T (p.Lys329Met) c.976A>T (p.Arg326Ter) c.982A>T (p.Arg328Ter) c.854A>T (p.Lys285Met) | |
13 | g.113149037G>A | CA388792418 | F10 | c.987G>A (p.Lys329=) c.977G>A (p.Arg326Lys) c.983G>A (p.Arg328Lys) c.855G>A (p.Lys285=) | |
13 | g.113149037G>C | CA388792413 | F10 | c.987G>C (p.Lys329Asn) c.977G>C (p.Arg326Thr) c.983G>C (p.Arg328Thr) c.855G>C (p.Lys285Asn) | |
13 | g.113149037G>T | CA388792416 | F10 | c.987G>T (p.Lys329Asn) c.977G>T (p.Arg326Ile) c.983G>T (p.Arg328Ile) c.855G>T (p.Lys285Asn) | |
13 | g.113149038A>C | CA388792420 | F10 | c.988A>C (p.Thr330Pro) c.978A>C (p.Arg326Ser) c.984A>C (p.Arg328Ser) c.856A>C (p.Thr286Pro) | |
13 | g.113149038A>G | CA388792422 | F10 | c.988A>G (p.Thr330Ala) c.978A>G (p.Arg326=) c.984A>G (p.Arg328=) c.856A>G (p.Thr286Ala) | |
13 | g.113149038A>T | CA388792424 | F10 | c.988A>T (p.Thr330Ser) c.978A>T (p.Arg326Ser) c.984A>T (p.Arg328Ser) c.856A>T (p.Thr286Ser) | |
13 | g.113149039C>A | CA388792426 | F10 | c.989C>A (p.Thr330Asn) c.979C>A (p.Pro327Thr) c.985C>A (p.Pro329Thr) c.857C>A (p.Thr286Asn) | |
13 | g.113149039C= | CA2120140029 | F10 | c.989C= (p.Thr330=) c.979C= (p.Pro327=) c.985C= (p.Pro329=) c.857C= (p.Thr286=) | |
13 | g.113149039C>G | CA388792428 | F10 | c.989C>G (p.Thr330Ser) c.979C>G (p.Pro327Ala) c.985C>G (p.Pro329Ala) c.857C>G (p.Thr286Ser) | |
13 | g.113149039C>T | CA7060658 | F10 | c.989C>T (p.Thr330Ile) c.979C>T (p.Pro327Ser) c.985C>T (p.Pro329Ser) c.857C>T (p.Thr286Ile) | dbSNP ExAC gnomAD v2 |
13 | g.113149040C>A | CA388792433 | F10 | c.990C>A (p.Thr330=) c.980C>A (p.Pro327His) c.986C>A (p.Pro329His) c.858C>A (p.Thr286=) | COSMIC |
13 | g.113149040C= | CA2120140032 | F10 | c.990C= (p.Thr330=) c.980C= (p.Pro327=) c.986C= (p.Pro329=) c.858C= (p.Thr286=) | |
13 | g.113149040C>G | CA388792436 | F10 | c.990C>G (p.Thr330=) c.980C>G (p.Pro327Arg) c.986C>G (p.Pro329Arg) c.858C>G (p.Thr286=) | |
13 | g.113149040C>T | CA388792439 | F10 | c.990C>T (p.Thr330=) c.980C>T (p.Pro327Leu) c.986C>T (p.Pro329Leu) c.858C>T (p.Thr286=) | dbSNP gnomAD v4 |
13 | g.113149041C>A | CA388792443 | F10 | c.991C>A (p.Pro331Thr) c.981C>A (p.Pro327=) c.987C>A (p.Pro329=) c.859C>A (p.Pro287Thr) | |
13 | g.113149041C= | CA2120140036 | F10 | c.991C= (p.Pro331=) c.981C= (p.Pro327=) c.987C= (p.Pro329=) c.859C= (p.Pro287=) | |
13 | g.113149041C>G | CA388792446 | F10 | c.991C>G (p.Pro331Ala) c.981C>G (p.Pro327=) c.987C>G (p.Pro329=) c.859C>G (p.Pro287Ala) | |
13 | g.113149041C>T | CA388792448 | F10 | c.991C>T (p.Pro331Ser) c.981C>T (p.Pro327=) c.987C>T (p.Pro329=) c.859C>T (p.Pro287Ser) | |
13 | g.113149042C>A | CA388792452 | F10 | c.992C>A (p.Pro331His) c.982C>A (p.Pro328Thr) c.988C>A (p.Pro330Thr) c.860C>A (p.Pro287His) | |
13 | g.113149042C>G | CA388792455 | F10 | c.992C>G (p.Pro331Arg) c.982C>G (p.Pro328Ala) c.988C>G (p.Pro330Ala) c.860C>G (p.Pro287Arg) | |
13 | g.113149042C>T | CA388792450 | F10 | c.992C>T (p.Pro331Leu) c.982C>T (p.Pro328Ser) c.988C>T (p.Pro330Ser) c.860C>T (p.Pro287Leu) | ClinVar dbSNP |
13 | g.113149043_113149046dup | CA2120140038 | F10 | c.993_996dup (p.Thr333HisfsTer16) c.983_986dup (p.Pro330IlefsTer?) c.989_992dup (p.Pro332IlefsTer?) c.861_864dup (p.Thr289HisfsTer16) | dbSNP |
13 | g.113149043C>A | CA388792460 | F10 | c.993C>A (p.Pro331=) c.983C>A (p.Pro328Gln) c.989C>A (p.Pro330Gln) c.861C>A (p.Pro287=) | |
13 | g.113149043C= | CA2120140039 | F10 | c.993C= (p.Pro331=) c.983C= (p.Pro328=) c.989C= (p.Pro330=) c.861C= (p.Pro287=) | |
13 | g.113149043C>G | CA388792457 | F10 | c.993C>G (p.Pro331=) c.983C>G (p.Pro328Arg) c.989C>G (p.Pro330Arg) c.861C>G (p.Pro287=) | |
13 | g.113149043C>T | CA7060659 | F10 | c.993C>T (p.Pro331=) c.983C>T (p.Pro328Leu) c.989C>T (p.Pro330Leu) c.861C>T (p.Pro287=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149044A= | CA2120140041 | F10 | c.994A= (p.Ile332=) c.984A= (p.Pro328=) c.990A= (p.Pro330=) c.862A= (p.Ile288=) | |
13 | g.113149044A>C | CA388792466 | F10 | c.994A>C (p.Ile332Leu) c.984A>C (p.Pro328=) c.990A>C (p.Pro330=) c.862A>C (p.Ile288Leu) | |
13 | g.113149044A>G | CA388792469 | F10 | c.994A>G (p.Ile332Val) c.984A>G (p.Pro328=) c.990A>G (p.Pro330=) c.862A>G (p.Ile288Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149044A>T | CA388792471 | F10 | c.994A>T (p.Ile332Phe) c.984A>T (p.Pro328=) c.990A>T (p.Pro330=) c.862A>T (p.Ile288Phe) | |
13 | g.113149045T>A | CA388792472 | F10 | c.995T>A (p.Ile332Asn) c.985T>A (p.Ser329Thr) c.991T>A (p.Ser331Thr) c.863T>A (p.Ile288Asn) | |
13 | g.113149045T>C | CA388792477 | F10 | c.995T>C (p.Ile332Thr) c.985T>C (p.Ser329Pro) c.991T>C (p.Ser331Pro) c.863T>C (p.Ile288Thr) | |
13 | g.113149045T>G | CA388792480 | F10 | c.995T>G (p.Ile332Ser) c.985T>G (p.Ser329Ala) c.991T>G (p.Ser331Ala) c.863T>G (p.Ile288Ser) | |
13 | g.113149046C>A | CA388792481 | F10 | c.996C>A (p.Ile332=) c.986C>A (p.Ser329Ter) c.992C>A (p.Ser331Ter) c.864C>A (p.Ile288=) | |
13 | g.113149046C>G | CA388792483 | F10 | c.996C>G (p.Ile332Met) c.986C>G (p.Ser329Ter) c.992C>G (p.Ser331Ter) c.864C>G (p.Ile288Met) | |
13 | g.113149046C>T | CA388792485 | F10 | c.996C>T (p.Ile332=) c.986C>T (p.Ser329Leu) c.992C>T (p.Ser331Leu) c.864C>T (p.Ile288=) | |
13 | g.113149047A>C | CA388792487 | F10 | c.997A>C (p.Thr333Pro) c.987A>C (p.Ser329=) c.993A>C (p.Ser331=) c.865A>C (p.Thr289Pro) | |
13 | g.113149047A>G | CA388792490 | F10 | c.997A>G (p.Thr333Ala) c.987A>G (p.Ser329=) c.993A>G (p.Ser331=) c.865A>G (p.Thr289Ala) | |
13 | g.113149047A>T | CA388792491 | F10 | c.997A>T (p.Thr333Ser) c.987A>T (p.Ser329=) c.993A>T (p.Ser331=) c.865A>T (p.Thr289Ser) | |
13 | g.113149048C>A | CA388792498 | F10 | c.998C>A (p.Thr333Asn) c.988C>A (p.Pro330Thr) c.994C>A (p.Pro332Thr) c.866C>A (p.Thr289Asn) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113149048C= | CA2120140043 | F10 | c.998C= (p.Thr333=) c.988C= (p.Pro330=) c.994C= (p.Pro332=) c.866C= (p.Thr289=) | |
13 | g.113149048C>G | CA388792495 | F10 | c.998C>G (p.Thr333Ser) c.988C>G (p.Pro330Ala) c.994C>G (p.Pro332Ala) c.866C>G (p.Thr289Ser) | |
13 | g.113149048C>T | CA388792494 | F10 | c.998C>T (p.Thr333Ile) c.988C>T (p.Pro330Ser) c.994C>T (p.Pro332Ser) c.866C>T (p.Thr289Ile) | |
13 | g.113149049C>A | CA388792502 | F10 | c.999C>A (p.Thr333=) c.989C>A (p.Pro330His) c.995C>A (p.Pro332His) c.867C>A (p.Thr289=) | |
13 | g.113149049C>G | CA388792503 | F10 | c.999C>G (p.Thr333=) c.989C>G (p.Pro330Arg) c.995C>G (p.Pro332Arg) c.867C>G (p.Thr289=) | |
13 | g.113149049C>T | CA388792507 | F10 | c.999C>T (p.Thr333=) c.989C>T (p.Pro330Leu) c.995C>T (p.Pro332Leu) c.867C>T (p.Thr289=) | gnomAD v4 |
13 | g.113149050T>A | CA388792509 | F10 | c.1000T>A (p.Phe334Ile) c.990T>A (p.Pro330=) c.996T>A (p.Pro332=) c.868T>A (p.Phe290Ile) | gnomAD v4 |
13 | g.113149050T>C | CA388792511 | F10 | c.1000T>C (p.Phe334Leu) c.990T>C (p.Pro330=) c.996T>C (p.Pro332=) c.868T>C (p.Phe290Leu) | |
13 | g.113149050T>G | CA388792513 | F10 | c.1000T>G (p.Phe334Val) c.990T>G (p.Pro330=) c.996T>G (p.Pro332=) c.868T>G (p.Phe290Val) | |
13 | g.113149051T>A | CA388792516 | F10 | c.1001T>A (p.Phe334Tyr) c.991T>A (p.Ser331Thr) c.997T>A (p.Ser333Thr) c.869T>A (p.Phe290Tyr) | |
13 | g.113149051T>C | CA388792518 | F10 | c.1001T>C (p.Phe334Ser) c.991T>C (p.Ser331Pro) c.997T>C (p.Ser333Pro) c.869T>C (p.Phe290Ser) | |
13 | g.113149051T>G | CA388792520 | F10 | c.1001T>G (p.Phe334Cys) c.991T>G (p.Ser331Ala) c.997T>G (p.Ser333Ala) c.869T>G (p.Phe290Cys) | |
13 | g.113149052C>A | CA388792521 | F10 | c.1002C>A (p.Phe334Leu) c.992C>A (p.Ser331Tyr) c.998C>A (p.Ser333Tyr) c.870C>A (p.Phe290Leu) | |
13 | g.113149052C>G | CA388792523 | F10 | c.1002C>G (p.Phe334Leu) c.992C>G (p.Ser331Cys) c.998C>G (p.Ser333Cys) c.870C>G (p.Phe290Leu) | gnomAD v4 |
13 | g.113149052C>T | CA388792526 | F10 | c.1002C>T (p.Phe334=) c.992C>T (p.Ser331Phe) c.998C>T (p.Ser333Phe) c.870C>T (p.Phe290=) | |
13 | g.113149053C>A | CA388792532 | F10 | c.1003C>A (p.Arg335Ser) c.993C>A (p.Ser331=) c.999C>A (p.Ser333=) c.871C>A (p.Arg291Ser) | |
13 | g.113149053C= | CA2120140045 | F10 | c.1003C= (p.Arg335=) c.993C= (p.Ser331=) c.999C= (p.Ser333=) c.871C= (p.Arg291=) | |
13 | g.113149053C>G | CA388792530 | F10 | c.1003C>G (p.Arg335Gly) c.993C>G (p.Ser331=) c.999C>G (p.Ser333=) c.871C>G (p.Arg291Gly) | |
13 | g.113149053C>T | CA7060660 | F10 | c.1003C>T (p.Arg335Cys) c.993C>T (p.Ser331=) c.999C>T (p.Ser333=) c.871C>T (p.Arg291Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149054G>A | CA7060661 | F10 | c.1004G>A (p.Arg335His) c.994G>A (p.Ala332Thr) c.1000G>A (p.Ala334Thr) c.872G>A (p.Arg291His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149054G>C | CA388792537 | F10 | c.1004G>C (p.Arg335Pro) c.994G>C (p.Ala332Pro) c.1000G>C (p.Ala334Pro) c.872G>C (p.Arg291Pro) | COSMIC |
13 | g.113149054G= | CA2120140055 | F10 | c.1004G= (p.Arg335=) c.994G= (p.Ala332=) c.1000G= (p.Ala334=) c.872G= (p.Arg291=) | |
13 | g.113149054G>T | CA388792539 | F10 | c.1004G>T (p.Arg335Leu) c.994G>T (p.Ala332Ser) c.1000G>T (p.Ala334Ser) c.872G>T (p.Arg291Leu) | gnomAD v4 |
13 | g.113149055del | CA2623809558 | F10 | c.1005del (p.Met336Ter) c.995del (p.Ala332AspfsTer12) c.1001del (p.Ala334AspfsTer12) c.873del (p.Met292Ter) | gnomAD v4 |
13 | g.113149055C>A | CA388792542 | F10 | c.1005C>A (p.Arg335=) c.995C>A (p.Ala332Glu) c.1001C>A (p.Ala334Glu) c.873C>A (p.Arg291=) | |
13 | g.113149055C>G | CA388792543 | F10 | c.1005C>G (p.Arg335=) c.995C>G (p.Ala332Gly) c.1001C>G (p.Ala334Gly) c.873C>G (p.Arg291=) | |
13 | g.113149055C>T | CA388792545 | F10 | c.1005C>T (p.Arg335=) c.995C>T (p.Ala332Val) c.1001C>T (p.Ala334Val) c.873C>T (p.Arg291=) | |
13 | g.113149056A= | CA2120140061 | F10 | c.1006A= (p.Met336=) c.996A= (p.Ala332=) c.1002A= (p.Ala334=) c.874A= (p.Met292=) | |
13 | g.113149056A>C | CA388792548 | F10 | c.1006A>C (p.Met336Leu) c.996A>C (p.Ala332=) c.1002A>C (p.Ala334=) c.874A>C (p.Met292Leu) | |
13 | g.113149056A>G | CA256478663 | F10 | c.1006A>G (p.Met336Val) c.996A>G (p.Ala332=) c.1002A>G (p.Ala334=) c.874A>G (p.Met292Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149056A>T | CA388792551 | F10 | c.1006A>T (p.Met336Leu) c.996A>T (p.Ala332=) c.1002A>T (p.Ala334=) c.874A>T (p.Met292Leu) | |
13 | g.113149057T>A | CA388792554 | F10 | c.1007T>A (p.Met336Lys) c.997T>A (p.Ter333Arg) c.1003T>A (p.Ter335Arg) c.875T>A (p.Met292Lys) | |
13 | g.113149057T>C | CA388792556 | F10 | c.1007T>C (p.Met336Thr) c.997T>C (p.Ter333Arg) c.1003T>C (p.Ter335Arg) c.875T>C (p.Met292Thr) | |
13 | g.113149057T>G | CA388792558 | F10 | c.1007T>G (p.Met336Arg) c.997T>G (p.Ter333Gly) c.1003T>G (p.Ter335Gly) c.875T>G (p.Met292Arg) | |
13 | g.113149058G>A | CA388792566 | F10 | c.1008G>A (p.Met336Ile) c.998G>A (p.Ter333=) c.1004G>A (p.Ter335=) c.876G>A (p.Met292Ile) | COSMIC |
13 | g.113149058G>C | CA388792563 | F10 | c.1008G>C (p.Met336Ile) c.998G>C (p.Ter333Ser) c.1004G>C (p.Ter335Ser) c.876G>C (p.Met292Ile) | |
13 | g.113149058G>T | CA388792560 | F10 | c.1008G>T (p.Met336Ile) c.998G>T (p.Ter333Leu) c.1004G>T (p.Ter335Leu) c.876G>T (p.Met292Ile) | |
13 | g.113149059A>C | CA388792569 | F10 | c.1009A>C (p.Asn337His) c.999A>C (p.Ter333Cys) c.1005A>C (p.Ter335Cys) c.877A>C (p.Asn293His) | |
13 | g.113149059A>G | CA388792572 | F10 | c.1009A>G (p.Asn337Asp) c.999A>G (p.Ter333Trp) c.1005A>G (p.Ter335Trp) c.877A>G (p.Asn293Asp) | |
13 | g.113149059A>T | CA388792574 | F10 | c.1009A>T (p.Asn337Tyr) c.999A>T (p.Ter333Cys) c.1005A>T (p.Ter335Cys) c.877A>T (p.Asn293Tyr) | |
13 | g.113149060A>C | CA388792577 | F10 | c.1010A>C (p.Asn337Thr) c.*1A>C (n.*1A>C) c.878A>C (p.Asn293Thr) | |
13 | g.113149060A>G | CA388792578 | F10 | c.1010A>G (p.Asn337Ser) c.*1A>G (n.*1A>G) c.878A>G (p.Asn293Ser) | |
13 | g.113149060A>T | CA388792581 | F10 | c.1010A>T (p.Asn337Ile) c.*1A>T (n.*1A>T) c.878A>T (p.Asn293Ile) | |
13 | g.113149061C>A | CA256478665 | F10 | c.1011C>A (p.Asn337Lys) c.*2C>A (n.*2C>A) c.879C>A (p.Asn293Lys) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113149061C= | CA2120140069 | F10 | c.1011C= (p.Asn337=) c.*2C= (n.*2C=) c.879C= (p.Asn293=) | |
13 | g.113149061C>G | CA388792585 | F10 | c.1011C>G (p.Asn337Lys) c.*2C>G (n.*2C>G) c.879C>G (p.Asn293Lys) | |
13 | g.113149061C>T | CA7060662 | F10 | c.1011C>T (p.Asn337=) c.*2C>T (n.*2C>T) c.879C>T (p.Asn293=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149062G>A | CA256478666 | F10 | c.1012G>A (p.Val338Met) c.*3G>A (n.*3G>A) c.880G>A (p.Val294Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149062G>C | CA388792588 | F10 | c.1012G>C (p.Val338Leu) c.*3G>C (n.*3G>C) c.880G>C (p.Val294Leu) | |
13 | g.113149062G= | CA2120140078 | F10 | c.1012G= (p.Val338=) c.*3G= (n.*3G=) c.880G= (p.Val294=) | |
13 | g.113149062G>T | CA388792591 | F10 | c.1012G>T (p.Val338Leu) c.*3G>T (n.*3G>T) c.880G>T (p.Val294Leu) | gnomAD v4 |
13 | g.113149063T>A | CA388792599 | F10 | c.1013T>A (p.Val338Glu) c.*4T>A (n.*4T>A) c.881T>A (p.Val294Glu) | |
13 | g.113149063T>C | CA388792597 | F10 | c.1013T>C (p.Val338Ala) c.*4T>C (n.*4T>C) c.881T>C (p.Val294Ala) | |
13 | g.113149063T>G | CA388792595 | F10 | c.1013T>G (p.Val338Gly) c.*4T>G (n.*4T>G) c.881T>G (p.Val294Gly) | |
13 | g.113149064G>A | CA485424051 | F10 | c.1014G>A (p.Val338=) c.*5G>A (n.*5G>A) c.882G>A (p.Val294=) | |
13 | g.113149064G>C | CA7060663 | F10 | c.1014G>C (p.Val338=) c.*5G>C (n.*5G>C) c.882G>C (p.Val294=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149064G= | CA2120140081 | F10 | c.1014G= (p.Val338=) c.*5G= (n.*5G=) c.882G= (p.Val294=) | |
13 | g.113149064G>T | CA485424052 | F10 | c.1014G>T (p.Val338=) c.*5G>T (n.*5G>T) c.882G>T (p.Val294=) | |
13 | g.113149065G>A | CA388792608 | F10 | c.1015G>A (p.Ala339Thr) c.*6G>A (n.*6G>A) c.883G>A (p.Ala295Thr) | |
13 | g.113149065G>C | CA388792603 | F10 | c.1015G>C (p.Ala339Pro) c.*6G>C (n.*6G>C) c.883G>C (p.Ala295Pro) | |
13 | g.113149065G>T | CA388792605 | F10 | c.1015G>T (p.Ala339Ser) c.*6G>T (n.*6G>T) c.883G>T (p.Ala295Ser) | |
13 | g.113149066C>A | CA388792612 | F10 | c.1016C>A (p.Ala339Glu) c.*7C>A (n.*7C>A) c.884C>A (p.Ala295Glu) | |
13 | g.113149066C= | CA2120140083 | F10 | c.1016C= (p.Ala339=) c.*7C= (n.*7C=) c.884C= (p.Ala295=) | |
13 | g.113149066C>G | CA388792614 | F10 | c.1016C>G (p.Ala339Gly) c.*7C>G (n.*7C>G) c.884C>G (p.Ala295Gly) | |
13 | g.113149066C>T | CA7060664 | F10 | c.1016C>T (p.Ala339Val) c.*7C>T (n.*7C>T) c.884C>T (p.Ala295Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |