Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.99870471_99870479del | CA2744755504 | AGL | c.736_744del (p.Pro246_Trp248del) n.947_955del c.688_696del (p.Pro230_Trp232del) c.685_693del (p.Pro229_Trp231del) | |
1 | g.99870474G>A | CA341339641 | AGL | c.739G>A (p.Ala247Thr) n.950G>A c.691G>A (p.Ala231Thr) c.688G>A (p.Ala230Thr) | |
1 | g.99870474G>C | CA341339643 | AGL | c.739G>C (p.Ala247Pro) n.950G>C c.691G>C (p.Ala231Pro) c.688G>C (p.Ala230Pro) | |
1 | g.99870474G= | CA1148459915 | AGL | c.739G= (p.Ala247=) n.950G= c.691G= (p.Ala231=) c.688G= (p.Ala230=) | |
1 | g.99870474G>T | CA966255 | AGL | c.739G>T (p.Ala247Ser) n.950G>T c.691G>T (p.Ala231Ser) c.688G>T (p.Ala230Ser) | dbSNP ExAC gnomAD v2 |
1 | g.99870475C>A | CA341339657 | AGL | c.740C>A (p.Ala247Asp) n.951C>A c.692C>A (p.Ala231Asp) c.689C>A (p.Ala230Asp) | |
1 | g.99870475C>G | CA341339656 | AGL | c.740C>G (p.Ala247Gly) n.951C>G c.692C>G (p.Ala231Gly) c.689C>G (p.Ala230Gly) | |
1 | g.99870475C>T | CA341339652 | AGL | c.740C>T (p.Ala247Val) n.951C>T c.692C>T (p.Ala231Val) c.689C>T (p.Ala230Val) | |
1 | g.99870476dup | CA524878443 | AGL | c.741dup (p.Trp248LeufsTer13) n.952dup c.693dup (p.Trp232LeufsTer13) c.690dup (p.Trp231LeufsTer13) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99870476C>A | CA419096421 | AGL | c.741C>A (p.Ala247=) n.952C>A c.693C>A (p.Ala231=) c.690C>A (p.Ala230=) | |
1 | g.99870476C>G | CA419096423 | AGL | c.741C>G (p.Ala247=) n.952C>G c.693C>G (p.Ala231=) c.690C>G (p.Ala230=) | |
1 | g.99870476C>T | CA419096422 | AGL | c.741C>T (p.Ala247=) n.952C>T c.693C>T (p.Ala231=) c.690C>T (p.Ala230=) | |
1 | g.99870477T>A | CA341339663 | AGL | c.742T>A (p.Trp248Arg) n.953T>A c.694T>A (p.Trp232Arg) c.691T>A (p.Trp231Arg) | |
1 | g.99870477T>C | CA341339671 | AGL | c.742T>C (p.Trp248Arg) n.953T>C c.694T>C (p.Trp232Arg) c.691T>C (p.Trp231Arg) | ClinVar dbSNP |
1 | g.99870477T>G | CA341339667 | AGL | c.742T>G (p.Trp248Gly) n.953T>G c.694T>G (p.Trp232Gly) c.691T>G (p.Trp231Gly) | |
1 | g.99870478G>A | CA341339675 | AGL | c.743G>A (p.Trp248Ter) n.954G>A c.695G>A (p.Trp232Ter) c.692G>A (p.Trp231Ter) | ClinVar |
1 | g.99870478G>C | CA341339678 | AGL | c.743G>C (p.Trp248Ser) n.954G>C c.695G>C (p.Trp232Ser) c.692G>C (p.Trp231Ser) | |
1 | g.99870478G>T | CA341339679 | AGL | c.743G>T (p.Trp248Leu) n.954G>T c.695G>T (p.Trp232Leu) c.692G>T (p.Trp231Leu) | |
1 | g.99870479G>A | CA341339682 | AGL | c.744G>A (p.Trp248Ter) n.955G>A c.696G>A (p.Trp232Ter) c.693G>A (p.Trp231Ter) | |
1 | g.99870479G>C | CA341339685 | AGL | c.744G>C (p.Trp248Cys) n.955G>C c.696G>C (p.Trp232Cys) c.693G>C (p.Trp231Cys) | |
1 | g.99870479G>T | CA341339687 | AGL | c.744G>T (p.Trp248Cys) n.955G>T c.696G>T (p.Trp232Cys) c.693G>T (p.Trp231Cys) | gnomAD v4 |
1 | g.99870480G>A | CA341339694 | AGL | c.745G>A (p.Val249Ile) n.956G>A c.697G>A (p.Val233Ile) c.694G>A (p.Val232Ile) | |
1 | g.99870480G>C | CA341339695 | AGL | c.745G>C (p.Val249Leu) n.956G>C c.697G>C (p.Val233Leu) c.694G>C (p.Val232Leu) | |
1 | g.99870480G>T | CA341339699 | AGL | c.745G>T (p.Val249Phe) n.956G>T c.697G>T (p.Val233Phe) c.694G>T (p.Val232Phe) | |
1 | g.99870481T>A | CA341339704 | AGL | c.746T>A (p.Val249Asp) n.957T>A c.698T>A (p.Val233Asp) c.695T>A (p.Val232Asp) | |
1 | g.99870481T>C | CA341339706 | AGL | c.746T>C (p.Val249Ala) n.957T>C c.698T>C (p.Val233Ala) c.695T>C (p.Val232Ala) | gnomAD v4 |
1 | g.99870481T>G | CA341339708 | AGL | c.746T>G (p.Val249Gly) n.957T>G c.698T>G (p.Val233Gly) c.695T>G (p.Val232Gly) | |
1 | g.99870482C>A | CA419096424 | AGL | c.747C>A (p.Val249=) n.958C>A c.699C>A (p.Val233=) c.696C>A (p.Val232=) | |
1 | g.99870482C>G | CA419096425 | AGL | c.747C>G (p.Val249=) n.958C>G c.699C>G (p.Val233=) c.696C>G (p.Val232=) | ClinVar |
1 | g.99870482C>T | CA419096426 | AGL | c.747C>T (p.Val249=) n.958C>T c.699C>T (p.Val233=) c.696C>T (p.Val232=) | gnomAD v4 |
1 | g.99870483T>A | CA341339713 | AGL | c.748T>A (p.Leu250Ile) n.959T>A c.700T>A (p.Leu234Ile) c.697T>A (p.Leu233Ile) | |
1 | g.99870483T>C | CA419096427 | AGL | c.748T>C (p.Leu250=) n.959T>C c.700T>C (p.Leu234=) c.697T>C (p.Leu233=) | |
1 | g.99870483T>G | CA341339716 | AGL | c.748T>G (p.Leu250Val) n.959T>G c.700T>G (p.Leu234Val) c.697T>G (p.Leu233Val) | |
1 | g.99870484T>A | CA341339722 | AGL | c.749T>A (p.Leu250Ter) n.960T>A c.701T>A (p.Leu234Ter) c.698T>A (p.Leu233Ter) | |
1 | g.99870484T>C | CA341339725 | AGL | c.749T>C (p.Leu250Ser) n.960T>C c.701T>C (p.Leu234Ser) c.698T>C (p.Leu233Ser) | |
1 | g.99870484T>G | CA341339727 | AGL | c.749T>G (p.Leu250Ter) n.960T>G c.701T>G (p.Leu234Ter) c.698T>G (p.Leu233Ter) | |
1 | g.99870484_99870488delinsTAGAC | CA1183923091 | AGL | c.749_753delinsTAGAC (p.Leu250=) n.960_964delinsTAGAC c.701_705delinsTAGAC (p.Leu234=) c.698_702delinsTAGAC (p.Leu233=) | |
1 | g.99870485A>C | CA341339732 | AGL | c.750A>C (p.Leu250Phe) n.961A>C c.702A>C (p.Leu234Phe) c.699A>C (p.Leu233Phe) | |
1 | g.99870485A>G | CA419096428 | AGL | c.750A>G (p.Leu250=) n.961A>G c.702A>G (p.Leu234=) c.699A>G (p.Leu233=) | |
1 | g.99870485A>T | CA341339736 | AGL | c.750A>T (p.Leu250Phe) n.961A>T c.702A>T (p.Leu234Phe) c.699A>T (p.Leu233Phe) | |
1 | g.99870485_99870491delinsAGACAGA | CA1149042026 | AGL | c.750_756delinsAGACAGA (p.Leu250=) n.961_967delinsAGACAGA c.702_708delinsAGACAGA (p.Leu234=) c.699_705delinsAGACAGA (p.Leu233=) | |
1 | g.99870488_99870491del | CA966256 | AGL | c.753_756del (p.Asp251GlufsTer23) n.964_967del c.705_708del (p.Asp235GlufsTer23) c.702_705del (p.Asp234GlufsTer23) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99870486G>A | CA341339759 | AGL | c.751G>A (p.Asp251Asn) n.962G>A c.703G>A (p.Asp235Asn) c.700G>A (p.Asp234Asn) | |
1 | g.99870486G>C | CA341339762 | AGL | c.751G>C (p.Asp251His) n.962G>C c.703G>C (p.Asp235His) c.700G>C (p.Asp234His) | |
1 | g.99870486G>T | CA341339765 | AGL | c.751G>T (p.Asp251Tyr) n.962G>T c.703G>T (p.Asp235Tyr) c.700G>T (p.Asp234Tyr) | |
1 | g.99870487A= | CA1183923098 | AGL | c.752A= (p.Asp251=) n.963A= c.704A= (p.Asp235=) c.701A= (p.Asp234=) | |
1 | g.99870487A>C | CA341339769 | AGL | c.752A>C (p.Asp251Ala) n.963A>C c.704A>C (p.Asp235Ala) c.701A>C (p.Asp234Ala) | dbSNP gnomAD v2 |
1 | g.99870487A>G | CA341339772 | AGL | c.752A>G (p.Asp251Gly) n.963A>G c.704A>G (p.Asp235Gly) c.701A>G (p.Asp234Gly) | |
1 | g.99870487A>T | CA341339774 | AGL | c.752A>T (p.Asp251Val) n.963A>T c.704A>T (p.Asp235Val) c.701A>T (p.Asp234Val) | |
1 | g.99870488C>A | CA341339779 | AGL | c.753C>A (p.Asp251Glu) n.964C>A c.705C>A (p.Asp235Glu) c.702C>A (p.Asp234Glu) | |
1 | g.99870488C= | CA1183923103 | AGL | c.753C= (p.Asp251=) n.964C= c.705C= (p.Asp235=) c.702C= (p.Asp234=) | |
1 | g.99870488C>G | CA341339783 | AGL | c.753C>G (p.Asp251Glu) n.964C>G c.705C>G (p.Asp235Glu) c.702C>G (p.Asp234Glu) | |
1 | g.99870488C>T | CA27568700 | AGL | c.753C>T (p.Asp251=) n.964C>T c.705C>T (p.Asp235=) c.702C>T (p.Asp234=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99870488_99870490delinsCAG | CA1183923101 | AGL | c.753_755delinsCAG (p.Asp251=) n.964_966delinsCAG c.705_707delinsCAG (p.Asp235=) c.702_704delinsCAG (p.Asp234=) | |
1 | g.99870488_99870497delinsCAGAGCACTT | CA1183923106 | AGL | c.753_762delinsCAGAGCACTT (p.Asp251=) n.964_973delinsCAGAGCACTT c.705_714delinsCAGAGCACTT (p.Asp235=) c.702_711delinsCAGAGCACTT (p.Asp234=) | |
1 | g.99870489A= | CA1143953119 | AGL | c.754A= (p.Arg252=) n.965A= c.706A= (p.Arg236=) c.703A= (p.Arg235=) | |
1 | g.99870489A>C | CA419096429 | AGL | c.754A>C (p.Arg252=) n.965A>C c.706A>C (p.Arg236=) c.703A>C (p.Arg235=) | |
1 | g.99870489A>G | CA966258 | AGL | c.754A>G (p.Arg252Gly) n.965A>G c.706A>G (p.Arg236Gly) c.703A>G (p.Arg235Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99870489A>T | CA341339789 | AGL | c.754A>T (p.Arg252Ter) n.965A>T c.706A>T (p.Arg236Ter) c.703A>T (p.Arg235Ter) | |
1 | g.99870491_99870492del | CA966257 | AGL | c.756_757del (p.Arg252SerfsTer8) n.967_968del c.708_709del (p.Arg236SerfsTer8) c.705_706del (p.Arg235SerfsTer8) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99870489_99870497del | CA1183923122 | AGL | c.754_762del (p.Arg252_Leu254del) n.965_973del c.706_714del (p.Arg236_Leu238del) c.703_711del (p.Arg235_Leu237del) | dbSNP |
1 | g.99870490G>A | CA341339800 | AGL | c.755G>A (p.Arg252Lys) n.966G>A c.707G>A (p.Arg236Lys) c.704G>A (p.Arg235Lys) | gnomAD v4 |
1 | g.99870490G>C | CA341339803 | AGL | c.755G>C (p.Arg252Thr) n.966G>C c.707G>C (p.Arg236Thr) c.704G>C (p.Arg235Thr) | |
1 | g.99870490G= | CA1183923125 | AGL | c.755G= (p.Arg252=) n.966G= c.707G= (p.Arg236=) c.704G= (p.Arg235=) | |
1 | g.99870490G>T | CA966259 | AGL | c.755G>T (p.Arg252Ile) n.966G>T c.707G>T (p.Arg236Ile) c.704G>T (p.Arg235Ile) | dbSNP ExAC gnomAD v2 |
1 | g.99870491A>C | CA341339805 | AGL | c.756A>C (p.Arg252Ser) n.967A>C c.708A>C (p.Arg236Ser) c.705A>C (p.Arg235Ser) | |
1 | g.99870491A>G | CA419096430 | AGL | c.756A>G (p.Arg252=) n.967A>G c.708A>G (p.Arg236=) c.705A>G (p.Arg235=) | |
1 | g.99870491A>T | CA341339808 | AGL | c.756A>T (p.Arg252Ser) n.967A>T c.708A>T (p.Arg236Ser) c.705A>T (p.Arg235Ser) | |
1 | g.99870492G>A | CA341339810 | AGL | c.757G>A (p.Ala253Thr) n.968G>A c.709G>A (p.Ala237Thr) c.706G>A (p.Ala236Thr) | gnomAD v4 |
1 | g.99870492G>C | CA966260 | AGL | c.757G>C (p.Ala253Pro) n.968G>C c.709G>C (p.Ala237Pro) c.706G>C (p.Ala236Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99870492G= | CA1148230546 | AGL | c.757G= (p.Ala253=) n.968G= c.709G= (p.Ala237=) c.706G= (p.Ala236=) | |
1 | g.99870492G>T | CA341339812 | AGL | c.757G>T (p.Ala253Ser) n.968G>T c.709G>T (p.Ala237Ser) c.706G>T (p.Ala236Ser) | ClinVar dbSNP gnomAD v4 |
1 | g.99870493C>A | CA341339814 | AGL | c.758C>A (p.Ala253Glu) n.969C>A c.710C>A (p.Ala237Glu) c.707C>A (p.Ala236Glu) | |
1 | g.99870493C= | CA1183923129 | AGL | c.758C= (p.Ala253=) n.969C= c.710C= (p.Ala237=) c.707C= (p.Ala236=) | |
1 | g.99870493C>G | CA341339817 | AGL | c.758C>G (p.Ala253Gly) n.969C>G c.710C>G (p.Ala237Gly) c.707C>G (p.Ala236Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.99870493C>T | CA341339819 | AGL | c.758C>T (p.Ala253Val) n.969C>T c.710C>T (p.Ala237Val) c.707C>T (p.Ala236Val) | dbSNP |
1 | g.99870494A= | CA1183923134 | AGL | c.759A= (p.Ala253=) n.970A= c.711A= (p.Ala237=) c.708A= (p.Ala236=) | |
1 | g.99870494A>C | CA419096432 | AGL | c.759A>C (p.Ala253=) n.970A>C c.711A>C (p.Ala237=) c.708A>C (p.Ala236=) | dbSNP gnomAD v4 |
1 | g.99870494A>G | CA966261 | AGL | c.759A>G (p.Ala253=) n.970A>G c.711A>G (p.Ala237=) c.708A>G (p.Ala236=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99870494A>T | CA419096431 | AGL | c.759A>T (p.Ala253=) n.970A>T c.711A>T (p.Ala237=) c.708A>T (p.Ala236=) | |
1 | g.99870495C>A | CA341339821 | AGL | c.760C>A (p.Leu254Ile) n.971C>A c.712C>A (p.Leu238Ile) c.709C>A (p.Leu237Ile) | |
1 | g.99870495C>G | CA341339823 | AGL | c.760C>G (p.Leu254Val) n.971C>G c.712C>G (p.Leu238Val) c.709C>G (p.Leu237Val) | |
1 | g.99870495C>T | CA341339825 | AGL | c.760C>T (p.Leu254Phe) n.971C>T c.712C>T (p.Leu238Phe) c.709C>T (p.Leu237Phe) | |
1 | g.99870496T>A | CA341339828 | AGL | c.761T>A (p.Leu254His) n.972T>A c.713T>A (p.Leu238His) c.710T>A (p.Leu237His) | |
1 | g.99870496T>C | CA341339830 | AGL | c.761T>C (p.Leu254Pro) n.972T>C c.713T>C (p.Leu238Pro) c.710T>C (p.Leu237Pro) | |
1 | g.99870496T>G | CA341339832 | AGL | c.761T>G (p.Leu254Arg) n.972T>G c.713T>G (p.Leu238Arg) c.710T>G (p.Leu237Arg) | |
1 | g.99870496_99870497insAAA | CA2744755505 | AGL | c.761_762insAAA (p.Leu254_Trp255insAsn) n.972_973insAAA c.713_714insAAA (p.Leu238_Trp239insAsn) c.710_711insAAA (p.Leu237_Trp238insAsn) | |
1 | g.99870497T>A | CA419096433 | AGL | c.762T>A (p.Leu254=) n.973T>A c.714T>A (p.Leu238=) c.711T>A (p.Leu237=) | |
1 | g.99870497T>C | CA966262 | AGL | c.762T>C (p.Leu254=) n.973T>C c.714T>C (p.Leu238=) c.711T>C (p.Leu237=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99870497T>G | CA419096434 | AGL | c.762T>G (p.Leu254=) n.973T>G c.714T>G (p.Leu238=) c.711T>G (p.Leu237=) | |
1 | g.99870497T= | CA1183923140 | AGL | c.762T= (p.Leu254=) n.973T= c.714T= (p.Leu238=) c.711T= (p.Leu237=) | |
1 | g.99870498T>A | CA341339838 | AGL | c.763T>A (p.Trp255Arg) n.974T>A c.715T>A (p.Trp239Arg) c.712T>A (p.Trp238Arg) | |
1 | g.99870498T>C | CA966263 | AGL | c.763T>C (p.Trp255Arg) n.974T>C c.715T>C (p.Trp239Arg) c.712T>C (p.Trp238Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99870498T>G | CA341339842 | AGL | c.763T>G (p.Trp255Gly) n.974T>G c.715T>G (p.Trp239Gly) c.712T>G (p.Trp238Gly) | gnomAD v4 |
1 | g.99870498T= | CA1183923143 | AGL | c.763T= (p.Trp255=) n.974T= c.715T= (p.Trp239=) c.712T= (p.Trp238=) | |
1 | g.99870499G>A | CA341339845 | AGL | c.764G>A (p.Trp255Ter) n.975G>A c.716G>A (p.Trp239Ter) c.713G>A (p.Trp238Ter) | |
1 | g.99870499G>C | CA341339847 | AGL | c.764G>C (p.Trp255Ser) n.975G>C c.716G>C (p.Trp239Ser) c.713G>C (p.Trp238Ser) | |
1 | g.99870499G>T | CA341339848 | AGL | c.764G>T (p.Trp255Leu) n.975G>T c.716G>T (p.Trp239Leu) c.713G>T (p.Trp238Leu) | |
1 | g.99870500G>A | CA341339852 | AGL | c.765G>A (p.Trp255Ter) n.976G>A c.717G>A (p.Trp239Ter) c.714G>A (p.Trp238Ter) | |
1 | g.99870500G>C | CA341339854 | AGL | c.765G>C (p.Trp255Cys) n.976G>C c.717G>C (p.Trp239Cys) c.714G>C (p.Trp238Cys) | |
1 | g.99870500G= | CA1183923145 | AGL | c.765G= (p.Trp255=) n.976G= c.717G= (p.Trp239=) c.714G= (p.Trp238=) | |
1 | g.99870500G>T | CA341339856 | AGL | c.765G>T (p.Trp255Cys) n.976G>T c.717G>T (p.Trp239Cys) c.714G>T (p.Trp238Cys) | dbSNP |
1 | g.99870500_99870505del | CA2744755506 | AGL | c.765_770del (p.Trp255_Phe257delinsCys) n.976_981del c.717_722del (p.Trp239_Phe241delinsCys) c.714_719del (p.Trp238_Phe240delinsCys) | |
1 | g.99870501C>A | CA341339858 | AGL | c.766C>A (p.Arg256Ser) n.977C>A c.718C>A (p.Arg240Ser) c.715C>A (p.Arg239Ser) | |
1 | g.99870501C= | CA1183923149 | AGL | c.766C= (p.Arg256=) n.977C= c.718C= (p.Arg240=) c.715C= (p.Arg239=) | |
1 | g.99870501C>G | CA341339861 | AGL | c.766C>G (p.Arg256Gly) n.977C>G c.718C>G (p.Arg240Gly) c.715C>G (p.Arg239Gly) | gnomAD v4 |
1 | g.99870501C>T | CA966264 | AGL | c.766C>T (p.Arg256Cys) n.977C>T c.718C>T (p.Arg240Cys) c.715C>T (p.Arg239Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.99870502G>A | CA966265 | AGL | c.767G>A (p.Arg256His) n.978G>A c.719G>A (p.Arg240His) c.716G>A (p.Arg239His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99870502G>C | CA341339866 | AGL | c.767G>C (p.Arg256Pro) n.978G>C c.719G>C (p.Arg240Pro) c.716G>C (p.Arg239Pro) | |
1 | g.99870502G= | CA1143400881 | AGL | c.767G= (p.Arg256=) n.978G= c.719G= (p.Arg240=) c.716G= (p.Arg239=) | |
1 | g.99870502G>T | CA341339864 | AGL | c.767G>T (p.Arg256Leu) n.978G>T c.719G>T (p.Arg240Leu) c.716G>T (p.Arg239Leu) | COSMIC |
1 | g.99870503T>A | CA419096435 | AGL | c.768T>A (p.Arg256=) n.979T>A c.720T>A (p.Arg240=) c.717T>A (p.Arg239=) | |
1 | g.99870503T>C | CA419096436 | AGL | c.768T>C (p.Arg256=) n.979T>C c.720T>C (p.Arg240=) c.717T>C (p.Arg239=) | |
1 | g.99870503T>G | CA419096437 | AGL | c.768T>G (p.Arg256=) n.979T>G c.720T>G (p.Arg240=) c.717T>G (p.Arg239=) | |
1 | g.99870505dup | CA2586967081 | AGL | c.770dup (p.Ser258LeufsTer3) n.981dup c.722dup (p.Ser242LeufsTer3) c.719dup (p.Ser241LeufsTer3) | |
1 | g.99870504T>A | CA341339870 | AGL | c.769T>A (p.Phe257Ile) n.980T>A c.721T>A (p.Phe241Ile) c.718T>A (p.Phe240Ile) | |
1 | g.99870504T>C | CA341339871 | AGL | c.769T>C (p.Phe257Leu) n.980T>C c.721T>C (p.Phe241Leu) c.718T>C (p.Phe240Leu) | gnomAD v4 |
1 | g.99870504T>G | CA341339874 | AGL | c.769T>G (p.Phe257Val) n.980T>G c.721T>G (p.Phe241Val) c.718T>G (p.Phe240Val) | |
1 | g.99870505T>A | CA341339878 | AGL | c.770T>A (p.Phe257Tyr) n.981T>A c.722T>A (p.Phe241Tyr) c.719T>A (p.Phe240Tyr) | |
1 | g.99870505T>C | CA341339880 | AGL | c.770T>C (p.Phe257Ser) n.981T>C c.722T>C (p.Phe241Ser) c.719T>C (p.Phe240Ser) | dbSNP gnomAD v4 |
1 | g.99870505T>G | CA341339882 | AGL | c.770T>G (p.Phe257Cys) n.981T>G c.722T>G (p.Phe241Cys) c.719T>G (p.Phe240Cys) | |
1 | g.99870505T= | CA1183923163 | AGL | c.770T= (p.Phe257=) n.981T= c.722T= (p.Phe241=) c.719T= (p.Phe240=) | |
1 | g.99870506C>A | CA341339886 | AGL | c.771C>A (p.Phe257Leu) n.982C>A c.723C>A (p.Phe241Leu) c.720C>A (p.Phe240Leu) | |
1 | g.99870506C= | CA1183923166 | AGL | c.771C= (p.Phe257=) n.982C= c.723C= (p.Phe241=) c.720C= (p.Phe240=) | |
1 | g.99870506C>G | CA27568743 | AGL | c.771C>G (p.Phe257Leu) n.982C>G c.723C>G (p.Phe241Leu) c.720C>G (p.Phe240Leu) | ClinVar dbSNP gnomAD v4 |
1 | g.99870506C>T | CA419096438 | AGL | c.771C>T (p.Phe257=) n.982C>T c.723C>T (p.Phe241=) c.720C>T (p.Phe240=) | |
1 | g.99870507T>A | CA341339890 | AGL | c.772T>A (p.Ser258Thr) n.983T>A c.724T>A (p.Ser242Thr) c.721T>A (p.Ser241Thr) | |
1 | g.99870507T>C | CA10588921 | AGL | c.772T>C (p.Ser258Pro) n.983T>C c.724T>C (p.Ser242Pro) c.721T>C (p.Ser241Pro) | ClinVar dbSNP |
1 | g.99870507T>G | CA341339891 | AGL | c.772T>G (p.Ser258Ala) n.983T>G c.724T>G (p.Ser242Ala) c.721T>G (p.Ser241Ala) | |
1 | g.99870507T= | CA1183923168 | AGL | c.772T= (p.Ser258=) n.983T= c.724T= (p.Ser242=) c.721T= (p.Ser241=) | |
1 | g.99870508C>A | CA341339894 | AGL | c.773C>A (p.Ser258Tyr) n.984C>A c.725C>A (p.Ser242Tyr) c.722C>A (p.Ser241Tyr) | |
1 | g.99870508C>G | CA341339896 | AGL | c.773C>G (p.Ser258Cys) n.984C>G c.725C>G (p.Ser242Cys) c.722C>G (p.Ser241Cys) | |
1 | g.99870508C>T | CA341339899 | AGL | c.773C>T (p.Ser258Phe) n.984C>T c.725C>T (p.Ser242Phe) c.722C>T (p.Ser241Phe) | gnomAD v4 |
1 | g.99870509C>A | CA419096439 | AGL | c.774C>A (p.Ser258=) n.985C>A c.726C>A (p.Ser242=) c.723C>A (p.Ser241=) | |
1 | g.99870509C>G | CA419096440 | AGL | c.774C>G (p.Ser258=) n.985C>G c.726C>G (p.Ser242=) c.723C>G (p.Ser241=) | |
1 | g.99870509C>T | CA419096441 | AGL | c.774C>T (p.Ser258=) n.985C>T c.726C>T (p.Ser242=) c.723C>T (p.Ser241=) | gnomAD v4 |
1 | g.99870509_99870513del | CA2744755507 | AGL | c.774_778del (p.Asp260CysfsTer15) n.985_989del c.726_730del (p.Asp244CysfsTer15) c.723_727del (p.Asp243CysfsTer15) | |
1 | g.99870510T>A | CA341339903 | AGL | c.775T>A (p.Cys259Ser) n.986T>A c.727T>A (p.Cys243Ser) c.724T>A (p.Cys242Ser) | |
1 | g.99870510T>C | CA27568771 | AGL | c.775T>C (p.Cys259Arg) n.986T>C c.727T>C (p.Cys243Arg) c.724T>C (p.Cys242Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99870510T>G | CA341339905 | AGL | c.775T>G (p.Cys259Gly) n.986T>G c.727T>G (p.Cys243Gly) c.724T>G (p.Cys242Gly) | |
1 | g.99870510T= | CA1183923176 | AGL | c.775T= (p.Cys259=) n.986T= c.727T= (p.Cys243=) c.724T= (p.Cys242=) | |
1 | g.99870511G>A | CA341339910 | AGL | c.776G>A (p.Cys259Tyr) n.987G>A c.728G>A (p.Cys243Tyr) c.725G>A (p.Cys242Tyr) | |
1 | g.99870511G>C | CA341339912 | AGL | c.776G>C (p.Cys259Ser) n.987G>C c.728G>C (p.Cys243Ser) c.725G>C (p.Cys242Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99870511G= | CA1183923181 | AGL | c.776G= (p.Cys259=) n.987G= c.728G= (p.Cys243=) c.725G= (p.Cys242=) | |
1 | g.99870511G>T | CA341339915 | AGL | c.776G>T (p.Cys259Phe) n.987G>T c.728G>T (p.Cys243Phe) c.725G>T (p.Cys242Phe) | |
1 | g.99870512T>A | CA341339918 | AGL | c.777T>A (p.Cys259Ter) n.988T>A c.729T>A (p.Cys243Ter) c.726T>A (p.Cys242Ter) | |
1 | g.99870512T>C | CA419096442 | AGL | c.777T>C (p.Cys259=) n.988T>C c.729T>C (p.Cys243=) c.726T>C (p.Cys242=) | |
1 | g.99870512T>G | CA341339921 | AGL | c.777T>G (p.Cys259Trp) n.988T>G c.729T>G (p.Cys243Trp) c.726T>G (p.Cys242Trp) | |
1 | g.99870513G>A | CA341339924 | AGL | c.778G>A (p.Asp260Asn) n.989G>A c.730G>A (p.Asp244Asn) c.727G>A (p.Asp243Asn) | |
1 | g.99870513G>C | CA341339926 | AGL | c.778G>C (p.Asp260His) n.989G>C c.730G>C (p.Asp244His) c.727G>C (p.Asp243His) | |
1 | g.99870513G>T | CA341339928 | AGL | c.778G>T (p.Asp260Tyr) n.989G>T c.730G>T (p.Asp244Tyr) c.727G>T (p.Asp243Tyr) | |
1 | g.99870514A>C | CA341339944 | AGL | c.779A>C (p.Asp260Ala) n.990A>C c.731A>C (p.Asp244Ala) c.728A>C (p.Asp243Ala) | |
1 | g.99870514A>G | CA341339947 | AGL | c.779A>G (p.Asp260Gly) n.990A>G c.731A>G (p.Asp244Gly) c.728A>G (p.Asp243Gly) | |
1 | g.99870514A>T | CA341339950 | AGL | c.779A>T (p.Asp260Val) n.990A>T c.731A>T (p.Asp244Val) c.728A>T (p.Asp243Val) | |
1 | g.99870514_99870515delinsAT | CA1183923186 | AGL | c.779_780delinsAT (p.Asp260=) n.990_991delinsAT c.731_732delinsAT (p.Asp244=) c.728_729delinsAT (p.Asp243=) | |
1 | g.99870515del | CA1183923188 | AGL | c.780del (p.Asp260GlufsTer15) n.991del c.732del (p.Asp244GlufsTer15) c.729del (p.Asp243GlufsTer15) | dbSNP |
1 | g.99870515T>A | CA341339954 | AGL | c.780T>A (p.Asp260Glu) n.991T>A c.732T>A (p.Asp244Glu) c.729T>A (p.Asp243Glu) | |
1 | g.99870515T>C | CA419096443 | AGL | c.780T>C (p.Asp260=) n.991T>C c.732T>C (p.Asp244=) c.729T>C (p.Asp243=) | |
1 | g.99870515T>G | CA341339957 | AGL | c.780T>G (p.Asp260Glu) n.991T>G c.732T>G (p.Asp244Glu) c.729T>G (p.Asp243Glu) | |
1 | g.99870516G>A | CA341339961 | AGL | c.781G>A (p.Val261Ile) n.992G>A c.733G>A (p.Val245Ile) c.730G>A (p.Val244Ile) | gnomAD v4 |
1 | g.99870516G>C | CA341339965 | AGL | c.781G>C (p.Val261Leu) n.992G>C c.733G>C (p.Val245Leu) c.730G>C (p.Val244Leu) | |
1 | g.99870516G>T | CA341339963 | AGL | c.781G>T (p.Val261Phe) n.992G>T c.733G>T (p.Val245Phe) c.730G>T (p.Val244Phe) | |
1 | g.99870517T>A | CA341339968 | AGL | c.782T>A (p.Val261Asp) n.993T>A c.734T>A (p.Val245Asp) c.731T>A (p.Val244Asp) | |
1 | g.99870517T>C | CA341339970 | AGL | c.782T>C (p.Val261Ala) n.993T>C c.734T>C (p.Val245Ala) c.731T>C (p.Val244Ala) | ClinVar dbSNP |
1 | g.99870517T>G | CA341339973 | AGL | c.782T>G (p.Val261Gly) n.993T>G c.734T>G (p.Val245Gly) c.731T>G (p.Val244Gly) | ClinVar dbSNP gnomAD v4 |
1 | g.99870517T= | CA1183923191 | AGL | c.782T= (p.Val261=) n.993T= c.734T= (p.Val245=) c.731T= (p.Val244=) | |
1 | g.99870518T>A | CA419096444 | AGL | c.783T>A (p.Val261=) n.994T>A c.735T>A (p.Val245=) c.732T>A (p.Val244=) | |
1 | g.99870518T>C | CA419096445 | AGL | c.783T>C (p.Val261=) n.994T>C c.735T>C (p.Val245=) c.732T>C (p.Val244=) | |
1 | g.99870518T>G | CA419096446 | AGL | c.783T>G (p.Val261=) n.994T>G c.735T>G (p.Val245=) c.732T>G (p.Val244=) | ClinVar |
1 | g.99870519G>A | CA341339978 | AGL | c.784G>A (p.Ala262Thr) n.995G>A c.736G>A (p.Ala246Thr) c.733G>A (p.Ala245Thr) | gnomAD v4 |
1 | g.99870519G>C | CA341339982 | AGL | c.784G>C (p.Ala262Pro) n.995G>C c.736G>C (p.Ala246Pro) c.733G>C (p.Ala245Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99870519G= | CA1183923194 | AGL | c.784G= (p.Ala262=) n.995G= c.736G= (p.Ala246=) c.733G= (p.Ala245=) | |
1 | g.99870519G>T | CA341339987 | AGL | c.784G>T (p.Ala262Ser) n.995G>T c.736G>T (p.Ala246Ser) c.733G>T (p.Ala245Ser) | |
1 | g.99870520C>A | CA341339991 | AGL | c.785C>A (p.Ala262Glu) n.996C>A c.737C>A (p.Ala246Glu) c.734C>A (p.Ala245Glu) | |
1 | g.99870520C>G | CA341339994 | AGL | c.785C>G (p.Ala262Gly) n.996C>G c.737C>G (p.Ala246Gly) c.734C>G (p.Ala245Gly) | gnomAD v4 |
1 | g.99870520C>T | CA341339997 | AGL | c.785C>T (p.Ala262Val) n.996C>T c.737C>T (p.Ala246Val) c.734C>T (p.Ala245Val) | |
1 | g.99870521A>C | CA419096449 | AGL | c.786A>C (p.Ala262=) n.997A>C c.738A>C (p.Ala246=) c.735A>C (p.Ala245=) | |
1 | g.99870521A>G | CA419096448 | AGL | c.786A>G (p.Ala262=) n.997A>G c.738A>G (p.Ala246=) c.735A>G (p.Ala245=) | ClinVar dbSNP |
1 | g.99870521A>T | CA419096447 | AGL | c.786A>T (p.Ala262=) n.997A>T c.738A>T (p.Ala246=) c.735A>T (p.Ala245=) | |
1 | g.99870522G>A | CA341340009 | AGL | c.787G>A (p.Glu263Lys) n.998G>A c.739G>A (p.Glu247Lys) c.736G>A (p.Glu246Lys) | |
1 | g.99870522G>C | CA341340013 | AGL | c.787G>C (p.Glu263Gln) n.998G>C c.739G>C (p.Glu247Gln) c.736G>C (p.Glu246Gln) | |
1 | g.99870522G>T | CA341340018 | AGL | c.787G>T (p.Glu263Ter) n.998G>T c.739G>T (p.Glu247Ter) c.736G>T (p.Glu246Ter) | |
1 | g.99870523A>C | CA341340030 | AGL | c.788A>C (p.Glu263Ala) n.999A>C c.740A>C (p.Glu247Ala) c.737A>C (p.Glu246Ala) | |
1 | g.99870523A>G | CA341340025 | AGL | c.788A>G (p.Glu263Gly) n.999A>G c.740A>G (p.Glu247Gly) c.737A>G (p.Glu246Gly) | |
1 | g.99870523A>T | CA341340028 | AGL | c.788A>T (p.Glu263Val) n.999A>T c.740A>T (p.Glu247Val) c.737A>T (p.Glu246Val) | |
1 | g.99870524A>C | CA341340035 | AGL | c.789A>C (p.Glu263Asp) n.1000A>C c.741A>C (p.Glu247Asp) c.738A>C (p.Glu246Asp) | |
1 | g.99870524A>G | CA419096450 | AGL | c.789A>G (p.Glu263=) n.1000A>G c.741A>G (p.Glu247=) c.738A>G (p.Glu246=) | |
1 | g.99870524A>T | CA341340037 | AGL | c.789A>T (p.Glu263Asp) n.1000A>T c.741A>T (p.Glu247Asp) c.738A>T (p.Glu246Asp) | |
1 | g.99870525G>A | CA341340042 | AGL | c.790G>A (p.Gly264Arg) n.1001G>A c.742G>A (p.Gly248Arg) c.739G>A (p.Gly247Arg) | gnomAD v4 |
1 | g.99870525G>C | CA341340046 | AGL | c.790G>C (p.Gly264Arg) n.1001G>C c.742G>C (p.Gly248Arg) c.739G>C (p.Gly247Arg) | |
1 | g.99870525G>T | CA341340050 | AGL | c.790G>T (p.Gly264Trp) n.1001G>T c.742G>T (p.Gly248Trp) c.739G>T (p.Gly247Trp) | COSMIC COSMIC |
1 | g.99870526G>A | CA341340055 | AGL | c.791G>A (p.Gly264Glu) n.1002G>A c.743G>A (p.Gly248Glu) c.740G>A (p.Gly247Glu) | |
1 | g.99870526G>C | CA341340058 | AGL | c.791G>C (p.Gly264Ala) n.1002G>C c.743G>C (p.Gly248Ala) c.740G>C (p.Gly247Ala) | |
1 | g.99870526G>T | CA341340061 | AGL | c.791G>T (p.Gly264Val) n.1002G>T c.743G>T (p.Gly248Val) c.740G>T (p.Gly247Val) | |
1 | g.99870527G>A | CA419096451 | AGL | c.792G>A (p.Gly264=) n.1003G>A c.744G>A (p.Gly248=) c.741G>A (p.Gly247=) | |
1 | g.99870527G>C | CA419096453 | AGL | c.792G>C (p.Gly264=) n.1003G>C c.744G>C (p.Gly248=) c.741G>C (p.Gly247=) | |
1 | g.99870527G>T | CA419096452 | AGL | c.792G>T (p.Gly264=) n.1003G>T c.744G>T (p.Gly248=) c.741G>T (p.Gly247=) | |
1 | g.99870528A>C | CA341340067 | AGL | c.793A>C (p.Lys265Gln) n.1004A>C c.745A>C (p.Lys249Gln) c.742A>C (p.Lys248Gln) | |
1 | g.99870528A>G | CA341340070 | AGL | c.793A>G (p.Lys265Glu) n.1004A>G c.745A>G (p.Lys249Glu) c.742A>G (p.Lys248Glu) | |
1 | g.99870528A>T | CA341340072 | AGL | c.793A>T (p.Lys265Ter) n.1004A>T c.745A>T (p.Lys249Ter) c.742A>T (p.Lys248Ter) | |
1 | g.99870530del | CA2697552539 | AGL | c.795del (p.Lys265AsnfsTer10) n.1006del c.747del (p.Lys249AsnfsTer10) c.744del (p.Lys248AsnfsTer10) | ClinVar |
1 | g.99870529A>C | CA341340086 | AGL | c.794A>C (p.Lys265Thr) n.1005A>C c.746A>C (p.Lys249Thr) c.743A>C (p.Lys248Thr) | |
1 | g.99870529A>G | CA341340083 | AGL | c.794A>G (p.Lys265Arg) n.1005A>G c.746A>G (p.Lys249Arg) c.743A>G (p.Lys248Arg) | |
1 | g.99870529A>T | CA341340080 | AGL | c.794A>T (p.Lys265Ile) n.1005A>T c.746A>T (p.Lys249Ile) c.743A>T (p.Lys248Ile) | COSMIC |
1 | g.99870530A= | CA1183923201 | AGL | c.795A= (p.Lys265=) n.1006A= c.747A= (p.Lys249=) c.744A= (p.Lys248=) | |
1 | g.99870530A>C | CA341340090 | AGL | c.795A>C (p.Lys265Asn) n.1006A>C c.747A>C (p.Lys249Asn) c.744A>C (p.Lys248Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.99870530A>G | CA419096454 | AGL | c.795A>G (p.Lys265=) n.1006A>G c.747A>G (p.Lys249=) c.744A>G (p.Lys248=) | gnomAD v4 |
1 | g.99870530A>T | CA341340093 | AGL | c.795A>T (p.Lys265Asn) n.1006A>T c.747A>T (p.Lys249Asn) c.744A>T (p.Lys248Asn) | |
1 | g.99870531T>A | CA341340095 | AGL | c.796T>A (p.Tyr266Asn) n.1007T>A c.748T>A (p.Tyr250Asn) c.745T>A (p.Tyr249Asn) | |
1 | g.99870531T>C | CA341340097 | AGL | c.796T>C (p.Tyr266His) n.1007T>C c.748T>C (p.Tyr250His) c.745T>C (p.Tyr249His) | |
1 | g.99870531T>G | CA341340100 | AGL | c.796T>G (p.Tyr266Asp) n.1007T>G c.748T>G (p.Tyr250Asp) c.745T>G (p.Tyr249Asp) | |
1 | g.99870532A>C | CA341340104 | AGL | c.797A>C (p.Tyr266Ser) n.1008A>C c.749A>C (p.Tyr250Ser) c.746A>C (p.Tyr249Ser) | |
1 | g.99870532A>G | CA341340108 | AGL | c.797A>G (p.Tyr266Cys) n.1008A>G c.749A>G (p.Tyr250Cys) c.746A>G (p.Tyr249Cys) | |
1 | g.99870532A>T | CA341340112 | AGL | c.797A>T (p.Tyr266Phe) n.1008A>T c.749A>T (p.Tyr250Phe) c.746A>T (p.Tyr249Phe) | |
1 | g.99870533C>A | CA341340115 | AGL | c.798C>A (p.Tyr266Ter) n.1009C>A c.750C>A (p.Tyr250Ter) c.747C>A (p.Tyr249Ter) | |
1 | g.99870533C= | CA1183923206 | AGL | c.798C= (p.Tyr266=) n.1009C= c.750C= (p.Tyr250=) c.747C= (p.Tyr249=) | |
1 | g.99870533C>G | CA341340118 | AGL | c.798C>G (p.Tyr266Ter) n.1009C>G c.750C>G (p.Tyr250Ter) c.747C>G (p.Tyr249Ter) | gnomAD v4 |
1 | g.99870533C>T | CA27568782 | AGL | c.798C>T (p.Tyr266=) n.1009C>T c.750C>T (p.Tyr250=) c.747C>T (p.Tyr249=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.99870534A>C | CA341340122 | AGL | c.799A>C (p.Lys267Gln) n.1010A>C c.751A>C (p.Lys251Gln) c.748A>C (p.Lys250Gln) | |
1 | g.99870534A>G | CA341340124 | AGL | c.799A>G (p.Lys267Glu) n.1010A>G c.751A>G (p.Lys251Glu) c.748A>G (p.Lys250Glu) | gnomAD v4 |
1 | g.99870534A>T | CA341340128 | AGL | c.799A>T (p.Lys267Ter) n.1010A>T c.751A>T (p.Lys251Ter) c.748A>T (p.Lys250Ter) | |
1 | g.99870535A>C | CA341340137 | AGL | c.800A>C (p.Lys267Thr) n.1011A>C c.752A>C (p.Lys251Thr) c.749A>C (p.Lys250Thr) | |
1 | g.99870535A>G | CA341340132 | AGL | c.800A>G (p.Lys267Arg) n.1011A>G c.752A>G (p.Lys251Arg) c.749A>G (p.Lys250Arg) | |
1 | g.99870535A>T | CA341340135 | AGL | c.800A>T (p.Lys267Ile) n.1011A>T c.752A>T (p.Lys251Ile) c.749A>T (p.Lys250Ile) | |
1 | g.99870536A= | CA1143764362 | AGL | c.801A= (p.Lys267=) n.1012A= c.753A= (p.Lys251=) c.750A= (p.Lys250=) | |
1 | g.99870536A>C | CA341340143 | AGL | c.801A>C (p.Lys267Asn) n.1012A>C c.753A>C (p.Lys251Asn) c.750A>C (p.Lys250Asn) | ClinVar gnomAD v4 |
1 | g.99870536A>G | CA966266 | AGL | c.801A>G (p.Lys267=) n.1012A>G c.753A>G (p.Lys251=) c.750A>G (p.Lys250=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99870536A>T | CA341340148 | AGL | c.801A>T (p.Lys267Asn) n.1012A>T c.753A>T (p.Lys251Asn) c.750A>T (p.Lys250Asn) | |
1 | g.99870537G>A | CA341340156 | AGL | c.802G>A (p.Glu268Lys) n.1013G>A c.754G>A (p.Glu252Lys) c.751G>A (p.Glu251Lys) | |
1 | g.99870537G>C | CA341340160 | AGL | c.802G>C (p.Glu268Gln) n.1013G>C c.754G>C (p.Glu252Gln) c.751G>C (p.Glu251Gln) | |
1 | g.99870537G>T | CA341340163 | AGL | c.802G>T (p.Glu268Ter) n.1013G>T c.754G>T (p.Glu252Ter) c.751G>T (p.Glu251Ter) | |
1 | g.99870538A= | CA1144113137 | AGL | c.803A= (p.Glu268=) n.1014A= c.755A= (p.Glu252=) c.752A= (p.Glu251=) | |
1 | g.99870538A>C | CA341340166 | AGL | c.803A>C (p.Glu268Ala) n.1014A>C c.755A>C (p.Glu252Ala) c.752A>C (p.Glu251Ala) | |
1 | g.99870538A>G | CA966267 | AGL | c.803A>G (p.Glu268Gly) n.1014A>G c.755A>G (p.Glu252Gly) c.752A>G (p.Glu251Gly) | ClinVar dbSNP ExAC gnomAD v2 |
1 | g.99870538A>T | CA341340171 | AGL | c.803A>T (p.Glu268Val) n.1014A>T c.755A>T (p.Glu252Val) c.752A>T (p.Glu251Val) | |
1 | g.99870540_99870541del | CA2646734593 | AGL | c.805_806del (p.Lys269GlyfsTer7) n.1016_1017del c.757_758del (p.Lys253GlyfsTer7) c.754_755del (p.Lys252GlyfsTer7) | dbSNP gnomAD v4 |
1 | g.99870539A>C | CA341340177 | AGL | c.804A>C (p.Glu268Asp) n.1015A>C c.756A>C (p.Glu252Asp) c.753A>C (p.Glu251Asp) | |
1 | g.99870539A>G | CA419096455 | AGL | c.804A>G (p.Glu268=) n.1015A>G c.756A>G (p.Glu252=) c.753A>G (p.Glu251=) | |
1 | g.99870539A>T | CA341340180 | AGL | c.804A>T (p.Glu268Asp) n.1015A>T c.756A>T (p.Glu252Asp) c.753A>T (p.Glu251Asp) | |
1 | g.99870540A= | CA1183923214 | AGL | c.805A= (p.Lys269=) n.1016A= c.757A= (p.Lys253=) c.754A= (p.Lys252=) | |
1 | g.99870540A>C | CA341340189 | AGL | c.805A>C (p.Lys269Gln) n.1016A>C c.757A>C (p.Lys253Gln) c.754A>C (p.Lys252Gln) | |
1 | g.99870540A>G | CA341340185 | AGL | c.805A>G (p.Lys269Glu) n.1016A>G c.757A>G (p.Lys253Glu) c.754A>G (p.Lys252Glu) | ClinVar dbSNP |
1 | g.99870540A>T | CA341340183 | AGL | c.805A>T (p.Lys269Ter) n.1016A>T c.757A>T (p.Lys253Ter) c.754A>T (p.Lys252Ter) | |
1 | g.99870541A>C | CA341340196 | AGL | c.806A>C (p.Lys269Thr) n.1017A>C c.758A>C (p.Lys253Thr) c.755A>C (p.Lys252Thr) | |
1 | g.99870541A>G | CA341340202 | AGL | c.806A>G (p.Lys269Arg) n.1017A>G c.758A>G (p.Lys253Arg) c.755A>G (p.Lys252Arg) | |
1 | g.99870541A>T | CA341340199 | AGL | c.806A>T (p.Lys269Met) n.1017A>T c.758A>T (p.Lys253Met) c.755A>T (p.Lys252Met) | |
1 | g.99870542G>A | CA419096456 | AGL | c.807G>A (p.Lys269=) n.1018G>A c.759G>A (p.Lys253=) c.756G>A (p.Lys252=) | |
1 | g.99870542G>C | CA341340219 | AGL | c.807G>C (p.Lys269Asn) n.1018G>C c.759G>C (p.Lys253Asn) c.756G>C (p.Lys252Asn) | |
1 | g.99870542G>T | CA341340224 | AGL | c.807G>T (p.Lys269Asn) n.1018G>T c.759G>T (p.Lys253Asn) c.756G>T (p.Lys252Asn) | |
1 | g.99870544dup | CA2695198098 | AGL | c.809dup (p.Ile271AsnfsTer6) n.1020dup c.761dup (p.Ile255AsnfsTer6) c.758dup (p.Ile254AsnfsTer6) | ClinVar |
1 | g.99870543G>A | CA341340230 | AGL | c.808G>A (p.Gly270Arg) n.1019G>A c.760G>A (p.Gly254Arg) c.757G>A (p.Gly253Arg) | dbSNP |
1 | g.99870543G>C | CA341340233 | AGL | c.808G>C (p.Gly270Arg) n.1019G>C c.760G>C (p.Gly254Arg) c.757G>C (p.Gly253Arg) | |
1 | g.99870543G= | CA1183923220 | AGL | c.808G= (p.Gly270=) n.1019G= c.760G= (p.Gly254=) c.757G= (p.Gly253=) | |
1 | g.99870543G>T | CA341340235 | AGL | c.808G>T (p.Gly270Ter) n.1019G>T c.760G>T (p.Gly254Ter) c.757G>T (p.Gly253Ter) | ClinVar |
1 | g.99870544G>A | CA341340244 | AGL | c.809G>A (p.Gly270Glu) n.1020G>A c.761G>A (p.Gly254Glu) c.758G>A (p.Gly253Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99870544G>C | CA341340248 | AGL | c.809G>C (p.Gly270Ala) n.1020G>C c.761G>C (p.Gly254Ala) c.758G>C (p.Gly253Ala) | |
1 | g.99870544G= | CA1183923223 | AGL | c.809G= (p.Gly270=) n.1020G= c.761G= (p.Gly254=) c.758G= (p.Gly253=) | |
1 | g.99870544G>T | CA341340252 | AGL | c.809G>T (p.Gly270Val) n.1020G>T c.761G>T (p.Gly254Val) c.758G>T (p.Gly253Val) | |
1 | g.99870545A>C | CA419096457 | AGL | c.810A>C (p.Gly270=) n.1021A>C c.762A>C (p.Gly254=) c.759A>C (p.Gly253=) | |
1 | g.99870545A>G | CA419096458 | AGL | c.810A>G (p.Gly270=) n.1021A>G c.762A>G (p.Gly254=) c.759A>G (p.Gly253=) | |
1 | g.99870545A>T | CA419096459 | AGL | c.810A>T (p.Gly270=) n.1021A>T c.762A>T (p.Gly254=) c.759A>T (p.Gly253=) | |
1 | g.99870546A>C | CA341340258 | AGL | c.811A>C (p.Ile271Leu) n.1022A>C c.763A>C (p.Ile255Leu) c.760A>C (p.Ile254Leu) | |
1 | g.99870546A>G | CA341340260 | AGL | c.811A>G (p.Ile271Val) n.1022A>G c.763A>G (p.Ile255Val) c.760A>G (p.Ile254Val) | ClinVar dbSNP |
1 | g.99870546A>T | CA341340263 | AGL | c.811A>T (p.Ile271Leu) n.1022A>T c.763A>T (p.Ile255Leu) c.760A>T (p.Ile254Leu) | gnomAD v4 |
1 | g.99870547T>A | CA341340268 | AGL | c.812T>A (p.Ile271Lys) n.1023T>A c.764T>A (p.Ile255Lys) c.761T>A (p.Ile254Lys) | |
1 | g.99870547T>C | CA341340271 | AGL | c.812T>C (p.Ile271Thr) n.1023T>C c.764T>C (p.Ile255Thr) c.761T>C (p.Ile254Thr) | |
1 | g.99870547T>G | CA341340275 | AGL | c.812T>G (p.Ile271Arg) n.1023T>G c.764T>G (p.Ile255Arg) c.761T>G (p.Ile254Arg) | |
1 | g.99870548A= | CA1183923225 | AGL | c.813A= (p.Ile271=) n.1024A= c.765A= (p.Ile255=) c.762A= (p.Ile254=) | |
1 | g.99870548A>C | CA419096461 | AGL | c.813A>C (p.Ile271=) n.1024A>C c.765A>C (p.Ile255=) c.762A>C (p.Ile254=) | |
1 | g.99870548A>G | CA341340278 | AGL | c.813A>G (p.Ile271Met) n.1024A>G c.765A>G (p.Ile255Met) c.762A>G (p.Ile254Met) | dbSNP |
1 | g.99870548A>T | CA419096460 | AGL | c.813A>T (p.Ile271=) n.1024A>T c.765A>T (p.Ile255=) c.762A>T (p.Ile254=) | |
1 | g.99870549C>A | CA966268 | AGL | c.814C>A (p.Pro272Thr) n.1025C>A c.766C>A (p.Pro256Thr) c.763C>A (p.Pro255Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99870549C= | CA1183923228 | AGL | c.814C= (p.Pro272=) n.1025C= c.766C= (p.Pro256=) c.763C= (p.Pro255=) | |
1 | g.99870549C>G | CA341340284 | AGL | c.814C>G (p.Pro272Ala) n.1025C>G c.766C>G (p.Pro256Ala) c.763C>G (p.Pro255Ala) | |
1 | g.99870549C>T | CA341340290 | AGL | c.814C>T (p.Pro272Ser) n.1025C>T c.766C>T (p.Pro256Ser) c.763C>T (p.Pro255Ser) | gnomAD v3 gnomAD v4 |
1 | g.99870550del | CA2646734604 | AGL | c.815del (p.Pro272LeufsTer3) n.1026del c.767del (p.Pro256LeufsTer3) c.764del (p.Pro255LeufsTer3) | gnomAD v4 |
1 | g.99870550C>A | CA341340293 | AGL | c.815C>A (p.Pro272His) n.1026C>A c.767C>A (p.Pro256His) c.764C>A (p.Pro255His) | |
1 | g.99870550C= | CA1183923232 | AGL | c.815C= (p.Pro272=) n.1026C= c.767C= (p.Pro256=) c.764C= (p.Pro255=) | |
1 | g.99870550C>G | CA341340297 | AGL | c.815C>G (p.Pro272Arg) n.1026C>G c.767C>G (p.Pro256Arg) c.764C>G (p.Pro255Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.99870550C>T | CA341340302 | AGL | c.815C>T (p.Pro272Leu) n.1026C>T c.767C>T (p.Pro256Leu) c.764C>T (p.Pro255Leu) | |
1 | g.99870551T>A | CA419096462 | AGL | c.816T>A (p.Pro272=) n.1027T>A c.768T>A (p.Pro256=) c.765T>A (p.Pro255=) | |
1 | g.99870551T>C | CA419096463 | AGL | c.816T>C (p.Pro272=) n.1027T>C c.768T>C (p.Pro256=) c.765T>C (p.Pro255=) | gnomAD v4 |
1 | g.99870551T>G | CA419096464 | AGL | c.816T>G (p.Pro272=) n.1027T>G c.768T>G (p.Pro256=) c.765T>G (p.Pro255=) | |
1 | g.99870552G>A | CA341340307 | AGL | c.817G>A (p.Ala273Thr) n.1028G>A c.769G>A (p.Ala257Thr) c.766G>A (p.Ala256Thr) | |
1 | g.99870552G>C | CA341340310 | AGL | c.817G>C (p.Ala273Pro) n.1028G>C c.769G>C (p.Ala257Pro) c.766G>C (p.Ala256Pro) | |
1 | g.99870552G>T | CA341340314 | AGL | c.817G>T (p.Ala273Ser) n.1028G>T c.769G>T (p.Ala257Ser) c.766G>T (p.Ala256Ser) | gnomAD v4 |
1 | g.99870553C>A | CA341340318 | AGL | c.818C>A (p.Ala273Asp) n.1029C>A c.770C>A (p.Ala257Asp) c.767C>A (p.Ala256Asp) | |
1 | g.99870553C= | CA1183923234 | AGL | c.818C= (p.Ala273=) n.1029C= c.770C= (p.Ala257=) c.767C= (p.Ala256=) | |
1 | g.99870553C>G | CA27568831 | AGL | c.818C>G (p.Ala273Gly) n.1029C>G c.770C>G (p.Ala257Gly) c.767C>G (p.Ala256Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.99870553C>T | CA341340324 | AGL | c.818C>T (p.Ala273Val) n.1029C>T c.770C>T (p.Ala257Val) c.767C>T (p.Ala256Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99870554T>A | CA419096465 | AGL | c.819T>A (p.Ala273=) n.1030T>A c.771T>A (p.Ala257=) c.768T>A (p.Ala256=) | |
1 | g.99870554T>C | CA419096467 | AGL | c.819T>C (p.Ala273=) n.1030T>C c.771T>C (p.Ala257=) c.768T>C (p.Ala256=) | gnomAD v4 |
1 | g.99870554T>G | CA419096466 | AGL | c.819T>G (p.Ala273=) n.1030T>G c.771T>G (p.Ala257=) c.768T>G (p.Ala256=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.99870554T= | CA1183923240 | AGL | c.819T= (p.Ala273=) n.1030T= c.771T= (p.Ala257=) c.768T= (p.Ala256=) | |
1 | g.99870555T>A | CA341340332 | AGL | c.820T>A (p.Leu274Met) n.1031T>A c.772T>A (p.Leu258Met) c.769T>A (p.Leu257Met) | |
1 | g.99870555T>C | CA419096469 | AGL | c.820T>C (p.Leu274=) n.1031T>C c.772T>C (p.Leu258=) c.769T>C (p.Leu257=) | ClinVar |
1 | g.99870555T>G | CA341340328 | AGL | c.820T>G (p.Leu274Val) n.1031T>G c.772T>G (p.Leu258Val) c.769T>G (p.Leu257Val) | |
1 | g.99870556T>A | CA341340333 | AGL | c.821T>A (p.Leu274Ter) n.1032T>A c.773T>A (p.Leu258Ter) c.770T>A (p.Leu257Ter) | |
1 | g.99870556T>C | CA341340334 | AGL | c.821T>C (p.Leu274Ser) n.1032T>C c.773T>C (p.Leu258Ser) c.770T>C (p.Leu257Ser) | |
1 | g.99870556T>G | CA341340336 | AGL | c.821T>G (p.Leu274Trp) n.1032T>G c.773T>G (p.Leu258Trp) c.770T>G (p.Leu257Trp) | |
1 | g.99870557G>A | CA419096470 | AGL | c.822G>A (p.Leu274=) n.1033G>A c.774G>A (p.Leu258=) c.771G>A (p.Leu257=) | |
1 | g.99870557G>C | CA966270 | AGL | c.822G>C (p.Leu274Phe) n.1033G>C c.774G>C (p.Leu258Phe) c.771G>C (p.Leu257Phe) | dbSNP ExAC gnomAD v2 |
1 | g.99870557G= | CA1183923244 | AGL | c.822G= (p.Leu274=) n.1033G= c.774G= (p.Leu258=) c.771G= (p.Leu257=) | |
1 | g.99870557G>T | CA966269 | AGL | c.822G>T (p.Leu274Phe) n.1033G>T c.774G>T (p.Leu258Phe) c.771G>T (p.Leu257Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99870558A>C | CA341340348 | AGL | c.823A>C (p.Ile275Leu) n.1034A>C c.775A>C (p.Ile259Leu) c.772A>C (p.Ile258Leu) | |
1 | g.99870558A>G | CA341340351 | AGL | c.823A>G (p.Ile275Val) n.1034A>G c.775A>G (p.Ile259Val) c.772A>G (p.Ile258Val) | gnomAD v4 |
1 | g.99870558A>T | CA341340353 | AGL | c.823A>T (p.Ile275Phe) n.1034A>T c.775A>T (p.Ile259Phe) c.772A>T (p.Ile258Phe) | |
1 | g.99870559T>A | CA341340356 | AGL | c.824T>A (p.Ile275Asn) n.1035T>A c.776T>A (p.Ile259Asn) c.773T>A (p.Ile258Asn) | |
1 | g.99870559T>C | CA341340358 | AGL | c.824T>C (p.Ile275Thr) n.1035T>C c.776T>C (p.Ile259Thr) c.773T>C (p.Ile258Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.99870559T>G | CA341340360 | AGL | c.824T>G (p.Ile275Ser) n.1035T>G c.776T>G (p.Ile259Ser) c.773T>G (p.Ile258Ser) | |
1 | g.99870559T= | CA1183923245 | AGL | c.824T= (p.Ile275=) n.1035T= c.776T= (p.Ile259=) c.773T= (p.Ile258=) | |
1 | g.99870560del | CA2573132624 | AGL | c.825del (p.Ile275MetfsTer7) n.1036del c.777del (p.Ile259MetfsTer7) c.774del (p.Ile258MetfsTer7) | ClinVar dbSNP |
1 | g.99870560T>A | CA419096471 | AGL | c.825T>A (p.Ile275=) n.1036T>A c.777T>A (p.Ile259=) c.774T>A (p.Ile258=) | |
1 | g.99870560T>C | CA419096472 | AGL | c.825T>C (p.Ile275=) n.1036T>C c.777T>C (p.Ile259=) c.774T>C (p.Ile258=) | |
1 | g.99870560T>G | CA341340364 | AGL | c.825T>G (p.Ile275Met) n.1036T>G c.777T>G (p.Ile259Met) c.774T>G (p.Ile258Met) | |
1 | g.99870561G>A | CA341340369 | AGL | c.826G>A (p.Glu276Lys) n.1037G>A c.778G>A (p.Glu260Lys) c.775G>A (p.Glu259Lys) | |
1 | g.99870561G>C | CA341340368 | AGL | c.826G>C (p.Glu276Gln) n.1037G>C c.778G>C (p.Glu260Gln) c.775G>C (p.Glu259Gln) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.99870561G= | CA1183923247 | AGL | c.826G= (p.Glu276=) n.1037G= c.778G= (p.Glu260=) c.775G= (p.Glu259=) | |
1 | g.99870561G>T | CA341340366 | AGL | c.826G>T (p.Glu276Ter) n.1037G>T c.778G>T (p.Glu260Ter) c.775G>T (p.Glu259Ter) | |
1 | g.99870562A>C | CA341340374 | AGL | c.827A>C (p.Glu276Ala) n.1038A>C c.779A>C (p.Glu260Ala) c.776A>C (p.Glu259Ala) | |
1 | g.99870562A>G | CA341340376 | AGL | c.827A>G (p.Glu276Gly) n.1038A>G c.779A>G (p.Glu260Gly) c.776A>G (p.Glu259Gly) | |
1 | g.99870562A>T | CA341340379 | AGL | c.827A>T (p.Glu276Val) n.1038A>T c.779A>T (p.Glu260Val) c.776A>T (p.Glu259Val) | |
1 | g.99870563A= | CA1183923249 | AGL | c.828A= (p.Glu276=) n.1039A= c.780A= (p.Glu260=) c.777A= (p.Glu259=) | |
1 | g.99870563A>C | CA341340382 | AGL | c.828A>C (p.Glu276Asp) n.1039A>C c.780A>C (p.Glu260Asp) c.777A>C (p.Glu259Asp) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.99870563A>G | CA419096473 | AGL | c.828A>G (p.Glu276=) n.1039A>G c.780A>G (p.Glu260=) c.777A>G (p.Glu259=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99870563A>T | CA341340384 | AGL | c.828A>T (p.Glu276Asp) n.1039A>T c.780A>T (p.Glu260Asp) c.777A>T (p.Glu259Asp) | |
1 | g.99870564A>C | CA341340385 | AGL | c.829A>C (p.Asn277His) n.1040A>C c.781A>C (p.Asn261His) c.778A>C (p.Asn260His) | |
1 | g.99870564A>G | CA341340386 | AGL | c.829A>G (p.Asn277Asp) n.1040A>G c.781A>G (p.Asn261Asp) c.778A>G (p.Asn260Asp) | |
1 | g.99870564A>T | CA341340387 | AGL | c.829A>T (p.Asn277Tyr) n.1040A>T c.781A>T (p.Asn261Tyr) c.778A>T (p.Asn260Tyr) | |
1 | g.99870565A>C | CA341340388 | AGL | c.830A>C (p.Asn277Thr) n.1041A>C c.782A>C (p.Asn261Thr) c.779A>C (p.Asn260Thr) | |
1 | g.99870565A>G | CA341340389 | AGL | c.830A>G (p.Asn277Ser) n.1041A>G c.782A>G (p.Asn261Ser) c.779A>G (p.Asn260Ser) | |
1 | g.99870565A>T | CA341340390 | AGL | c.830A>T (p.Asn277Ile) n.1041A>T c.782A>T (p.Asn261Ile) c.779A>T (p.Asn260Ile) | |
1 | g.99870566T>A | CA341340391 | AGL | c.831T>A (p.Asn277Lys) n.1042T>A c.783T>A (p.Asn261Lys) c.780T>A (p.Asn260Lys) | |
1 | g.99870566T>C | CA419096474 | AGL | c.831T>C (p.Asn277=) n.1042T>C c.783T>C (p.Asn261=) c.780T>C (p.Asn260=) | |
1 | g.99870566T>G | CA341340392 | AGL | c.831T>G (p.Asn277Lys) n.1042T>G c.783T>G (p.Asn261Lys) c.780T>G (p.Asn260Lys) | |
1 | g.99870567G>A | CA341340394 | AGL | c.832G>A (p.Asp278Asn) n.1043G>A c.784G>A (p.Asp262Asn) c.781G>A (p.Asp261Asn) | |
1 | g.99870567G>C | CA341340395 | AGL | c.832G>C (p.Asp278His) n.1043G>C c.784G>C (p.Asp262His) c.781G>C (p.Asp261His) | |
1 | g.99870567G>T | CA341340393 | AGL | c.832G>T (p.Asp278Tyr) n.1043G>T c.784G>T (p.Asp262Tyr) c.781G>T (p.Asp261Tyr) | |
1 | g.99870568A= | CA1183923254 | AGL | c.833A= (p.Asp278=) n.1044A= c.785A= (p.Asp262=) c.782A= (p.Asp261=) | |
1 | g.99870568A>C | CA341340396 | AGL | c.833A>C (p.Asp278Ala) n.1044A>C c.785A>C (p.Asp262Ala) c.782A>C (p.Asp261Ala) | |
1 | g.99870568A>G | CA341340397 | AGL | c.833A>G (p.Asp278Gly) n.1044A>G c.785A>G (p.Asp262Gly) c.782A>G (p.Asp261Gly) | ClinVar dbSNP gnomAD v4 |
1 | g.99870568A>T | CA341340398 | AGL | c.833A>T (p.Asp278Val) n.1044A>T c.785A>T (p.Asp262Val) c.782A>T (p.Asp261Val) | dbSNP gnomAD v4 |
1 | g.99870569T>A | CA341340399 | AGL | c.834T>A (p.Asp278Glu) n.1045T>A c.786T>A (p.Asp262Glu) c.783T>A (p.Asp261Glu) | |
1 | g.99870569T>C | CA419096475 | AGL | c.834T>C (p.Asp278=) n.1045T>C c.786T>C (p.Asp262=) c.783T>C (p.Asp261=) | |
1 | g.99870569T>G | CA341340400 | AGL | c.834T>G (p.Asp278Glu) n.1045T>G c.786T>G (p.Asp262Glu) c.783T>G (p.Asp261Glu) | |
1 | g.99870570C>A | CA341340401 | AGL | c.835C>A (p.His279Asn) n.1046C>A c.787C>A (p.His263Asn) c.784C>A (p.His262Asn) | |
1 | g.99870570C>G | CA341340402 | AGL | c.835C>G (p.His279Asp) n.1046C>G c.787C>G (p.His263Asp) c.784C>G (p.His262Asp) | |
1 | g.99870570C>T | CA341340403 | AGL | c.835C>T (p.His279Tyr) n.1046C>T c.787C>T (p.His263Tyr) c.784C>T (p.His262Tyr) | |
1 | g.99870571A= | CA1183923258 | AGL | c.836A= (p.His279=) n.1047A= c.788A= (p.His263=) c.785A= (p.His262=) | |
1 | g.99870571A>C | CA341340404 | AGL | c.836A>C (p.His279Pro) n.1047A>C c.788A>C (p.His263Pro) c.785A>C (p.His262Pro) | |
1 | g.99870571A>G | CA966271 | AGL | c.836A>G (p.His279Arg) n.1047A>G c.788A>G (p.His263Arg) c.785A>G (p.His262Arg) | dbSNP ExAC gnomAD v2 |
1 | g.99870571A>T | CA341340405 | AGL | c.836A>T (p.His279Leu) n.1047A>T c.788A>T (p.His263Leu) c.785A>T (p.His262Leu) | |
1 | g.99870572C>A | CA341340406 | AGL | c.837C>A (p.His279Gln) n.1048C>A c.789C>A (p.His263Gln) c.786C>A (p.His262Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.99870572C= | CA1183923265 | AGL | c.837C= (p.His279=) n.1048C= c.789C= (p.His263=) c.786C= (p.His262=) | |
1 | g.99870572C>G | CA341340407 | AGL | c.837C>G (p.His279Gln) n.1048C>G c.789C>G (p.His263Gln) c.786C>G (p.His262Gln) | |
1 | g.99870572C>T | CA419096476 | AGL | c.837C>T (p.His279=) n.1048C>T c.789C>T (p.His263=) c.786C>T (p.His262=) | |
1 | g.99870573C>A | CA341340409 | AGL | c.838C>A (p.His280Asn) n.1049C>A c.790C>A (p.His264Asn) c.787C>A (p.His263Asn) | |
1 | g.99870573C= | CA1183923271 | AGL | c.838C= (p.His280=) n.1049C= c.790C= (p.His264=) c.787C= (p.His263=) | |
1 | g.99870573C>G | CA341340408 | AGL | c.838C>G (p.His280Asp) n.1049C>G c.790C>G (p.His264Asp) c.787C>G (p.His263Asp) | |
1 | g.99870573C>T | CA966272 | AGL | c.838C>T (p.His280Tyr) n.1049C>T c.790C>T (p.His264Tyr) c.787C>T (p.His263Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99870574A= | CA1146994444 | AGL | c.839A= (p.His280=) n.1050A= c.791A= (p.His264=) c.788A= (p.His263=) | |
1 | g.99870574A>C | CA341340410 | AGL | c.839A>C (p.His280Pro) n.1050A>C c.791A>C (p.His264Pro) c.788A>C (p.His263Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99870574A>G | CA966273 | AGL | c.839A>G (p.His280Arg) n.1050A>G c.791A>G (p.His264Arg) c.788A>G (p.His263Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99870574A>T | CA341340411 | AGL | c.839A>T (p.His280Leu) n.1050A>T c.791A>T (p.His264Leu) c.788A>T (p.His263Leu) |