UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.162103955G>A | CA362185107 | GABRG2 | c.660G>A c.818G>A (p.Arg273Lys) n.589G>A c.781G>A c.413G>A (p.Arg138Lys) c.698G>A (p.Arg233Lys) n.760G>A c.575G>A c.89G>A (p.Arg30Lys) c.626G>A (p.Arg209Lys) c.107+35849G>A (n.107+35849G>A) c.632G>A (p.Arg211Lys) n.3229G>A c.136G>A c.611G>A (p.Arg204Lys) c.*300G>A (n.*300G>A) c.819G>A (n.819G>A) c.689G>A (p.Arg230Lys) c.278G>A (p.Arg93Lys) | dbSNP |
| 5 | g.162103955G>C | CA362185108 | GABRG2 | c.660G>C c.818G>C (p.Arg273Thr) n.589G>C c.781G>C c.413G>C (p.Arg138Thr) c.698G>C (p.Arg233Thr) n.760G>C c.575G>C c.89G>C (p.Arg30Thr) c.626G>C (p.Arg209Thr) c.107+35849G>C (n.107+35849G>C) c.632G>C (p.Arg211Thr) n.3229G>C c.136G>C c.611G>C (p.Arg204Thr) c.*300G>C (n.*300G>C) c.819G>C (n.819G>C) c.689G>C (p.Arg230Thr) c.278G>C (p.Arg93Thr) | |
| 5 | g.162103955G= | CA1596365220 | GABRG2 | c.660G= c.818G= (p.Arg273=) n.589G= c.781G= c.413G= (p.Arg138=) c.698G= (p.Arg233=) n.760G= c.575G= c.89G= (p.Arg30=) c.626G= (p.Arg209=) c.107+35849G= (n.107+35849G=) c.632G= (p.Arg211=) n.3229G= c.136G= c.611G= (p.Arg204=) c.*300G= (n.*300G=) c.819G= (n.819G=) c.689G= (p.Arg230=) c.278G= (p.Arg93=) | |
| 5 | g.162103955G>T | CA362185109 | GABRG2 | c.660G>T c.818G>T (p.Arg273Ile) n.589G>T c.781G>T c.413G>T (p.Arg138Ile) c.698G>T (p.Arg233Ile) n.760G>T c.575G>T c.89G>T (p.Arg30Ile) c.626G>T (p.Arg209Ile) c.107+35849G>T (n.107+35849G>T) c.632G>T (p.Arg211Ile) n.3229G>T c.136G>T c.611G>T (p.Arg204Ile) c.*300G>T (n.*300G>T) c.819G>T (n.819G>T) c.689G>T (p.Arg230Ile) c.278G>T (p.Arg93Ile) | COSMIC |
| 5 | g.162103956A>C | CA362185110 | GABRG2 | c.661A>C c.819A>C (p.Arg273Ser) n.590A>C c.782A>C c.414A>C (p.Arg138Ser) c.699A>C (p.Arg233Ser) n.761A>C c.576A>C c.90A>C (p.Arg30Ser) c.627A>C (p.Arg209Ser) c.107+35850A>C (n.107+35850A>C) c.633A>C (p.Arg211Ser) n.3230A>C c.137A>C c.612A>C (p.Arg204Ser) c.*301A>C (n.*301A>C) c.820A>C (n.820A>C) c.690A>C (p.Arg230Ser) c.279A>C (p.Arg93Ser) | |
| 5 | g.162103956A>G | CA447609977 | GABRG2 | c.661A>G c.819A>G (p.Arg273=) n.590A>G c.782A>G c.414A>G (p.Arg138=) c.699A>G (p.Arg233=) n.761A>G c.576A>G c.90A>G (p.Arg30=) c.627A>G (p.Arg209=) c.107+35850A>G (n.107+35850A>G) c.633A>G (p.Arg211=) n.3230A>G c.137A>G c.612A>G (p.Arg204=) c.*301A>G (n.*301A>G) c.820A>G (n.820A>G) c.690A>G (p.Arg230=) c.279A>G (p.Arg93=) | |
| 5 | g.162103956A>T | CA362185111 | GABRG2 | c.661A>T c.819A>T (p.Arg273Ser) n.590A>T c.782A>T c.414A>T (p.Arg138Ser) c.699A>T (p.Arg233Ser) n.761A>T c.576A>T c.90A>T (p.Arg30Ser) c.627A>T (p.Arg209Ser) c.107+35850A>T (n.107+35850A>T) c.633A>T (p.Arg211Ser) n.3230A>T c.137A>T c.612A>T (p.Arg204Ser) c.*301A>T (n.*301A>T) c.820A>T (n.820A>T) c.690A>T (p.Arg230Ser) c.279A>T (p.Arg93Ser) | gnomAD v4 COSMIC |
| 5 | g.162103957T>A | CA362185112 | GABRG2 | c.662T>A c.820T>A (p.Ser274Thr) n.591T>A c.783T>A c.415T>A (p.Ser139Thr) c.700T>A (p.Ser234Thr) n.762T>A c.577T>A c.91T>A (p.Ser31Thr) c.628T>A (p.Ser210Thr) c.107+35851T>A (n.107+35851T>A) c.634T>A (p.Ser212Thr) n.3231T>A c.138T>A c.613T>A (p.Ser205Thr) c.*302T>A (n.*302T>A) c.821T>A (n.821T>A) c.691T>A (p.Ser231Thr) c.280T>A (p.Ser94Thr) | |
| 5 | g.162103957T>C | CA362185114 | GABRG2 | c.662T>C c.820T>C (p.Ser274Pro) n.591T>C c.783T>C c.415T>C (p.Ser139Pro) c.700T>C (p.Ser234Pro) n.762T>C c.577T>C c.91T>C (p.Ser31Pro) c.628T>C (p.Ser210Pro) c.107+35851T>C (n.107+35851T>C) c.634T>C (p.Ser212Pro) n.3231T>C c.138T>C c.613T>C (p.Ser205Pro) c.*302T>C (n.*302T>C) c.821T>C (n.821T>C) c.691T>C (p.Ser231Pro) c.280T>C (p.Ser94Pro) | |
| 5 | g.162103957T>G | CA362185113 | GABRG2 | c.662T>G c.820T>G (p.Ser274Ala) n.591T>G c.783T>G c.415T>G (p.Ser139Ala) c.700T>G (p.Ser234Ala) n.762T>G c.577T>G c.91T>G (p.Ser31Ala) c.628T>G (p.Ser210Ala) c.107+35851T>G (n.107+35851T>G) c.634T>G (p.Ser212Ala) n.3231T>G c.138T>G c.613T>G (p.Ser205Ala) c.*302T>G (n.*302T>G) c.821T>G (n.821T>G) c.691T>G (p.Ser231Ala) c.280T>G (p.Ser94Ala) | |
| 5 | g.162103958C>A | CA362185115 | GABRG2 | c.663C>A c.821C>A (p.Ser274Tyr) n.592C>A c.784C>A c.416C>A (p.Ser139Tyr) c.701C>A (p.Ser234Tyr) n.763C>A c.578C>A c.92C>A (p.Ser31Tyr) c.629C>A (p.Ser210Tyr) c.107+35852C>A (n.107+35852C>A) c.635C>A (p.Ser212Tyr) n.3232C>A c.139C>A c.614C>A (p.Ser205Tyr) c.*303C>A (n.*303C>A) c.822C>A (n.822C>A) c.692C>A (p.Ser231Tyr) c.281C>A (p.Ser94Tyr) | COSMIC |
| 5 | g.162103958C>G | CA362185117 | GABRG2 | c.663C>G c.821C>G (p.Ser274Cys) n.592C>G c.784C>G c.416C>G (p.Ser139Cys) c.701C>G (p.Ser234Cys) n.763C>G c.578C>G c.92C>G (p.Ser31Cys) c.629C>G (p.Ser210Cys) c.107+35852C>G (n.107+35852C>G) c.635C>G (p.Ser212Cys) n.3232C>G c.139C>G c.614C>G (p.Ser205Cys) c.*303C>G (n.*303C>G) c.822C>G (n.822C>G) c.692C>G (p.Ser231Cys) c.281C>G (p.Ser94Cys) | |
| 5 | g.162103958C>T | CA362185116 | GABRG2 | c.663C>T c.821C>T (p.Ser274Phe) n.592C>T c.784C>T c.416C>T (p.Ser139Phe) c.701C>T (p.Ser234Phe) n.763C>T c.578C>T c.92C>T (p.Ser31Phe) c.629C>T (p.Ser210Phe) c.107+35852C>T (n.107+35852C>T) c.635C>T (p.Ser212Phe) n.3232C>T c.139C>T c.614C>T (p.Ser205Phe) c.*303C>T (n.*303C>T) c.822C>T (n.822C>T) c.692C>T (p.Ser231Phe) c.281C>T (p.Ser94Phe) | COSMIC |
| 5 | g.162103959C>A | CA447609980 | GABRG2 | c.664C>A c.822C>A (p.Ser274=) n.593C>A c.785C>A c.417C>A (p.Ser139=) c.702C>A (p.Ser234=) n.764C>A c.579C>A c.93C>A (p.Ser31=) c.630C>A (p.Ser210=) c.107+35853C>A (n.107+35853C>A) c.636C>A (p.Ser212=) n.3233C>A c.140C>A c.615C>A (p.Ser205=) c.*304C>A (n.*304C>A) c.823C>A (n.823C>A) c.693C>A (p.Ser231=) c.282C>A (p.Ser94=) | |
| 5 | g.162103959C= | CA1596365221 | GABRG2 | c.664C= c.822C= (p.Ser274=) n.593C= c.785C= c.417C= (p.Ser139=) c.702C= (p.Ser234=) n.764C= c.579C= c.93C= (p.Ser31=) c.630C= (p.Ser210=) c.107+35853C= (n.107+35853C=) c.636C= (p.Ser212=) n.3233C= c.140C= c.615C= (p.Ser205=) c.*304C= (n.*304C=) c.823C= (n.823C=) c.693C= (p.Ser231=) c.282C= (p.Ser94=) | |
| 5 | g.162103959C>G | CA447609981 | GABRG2 | c.664C>G c.822C>G (p.Ser274=) n.593C>G c.785C>G c.417C>G (p.Ser139=) c.702C>G (p.Ser234=) n.764C>G c.579C>G c.93C>G (p.Ser31=) c.630C>G (p.Ser210=) c.107+35853C>G (n.107+35853C>G) c.636C>G (p.Ser212=) n.3233C>G c.140C>G c.615C>G (p.Ser205=) c.*304C>G (n.*304C>G) c.823C>G (n.823C>G) c.693C>G (p.Ser231=) c.282C>G (p.Ser94=) | |
| 5 | g.162103959C>T | CA3544803 | GABRG2 | c.664C>T c.822C>T (p.Ser274=) n.593C>T c.785C>T c.417C>T (p.Ser139=) c.702C>T (p.Ser234=) n.764C>T c.579C>T c.93C>T (p.Ser31=) c.630C>T (p.Ser210=) c.107+35853C>T (n.107+35853C>T) c.636C>T (p.Ser212=) n.3233C>T c.140C>T c.615C>T (p.Ser205=) c.*304C>T (n.*304C>T) c.823C>T (n.823C>T) c.693C>T (p.Ser231=) c.282C>T (p.Ser94=) | dbSNP ExAC |
| 5 | g.162103960T>A | CA362185118 | GABRG2 | c.665T>A c.823T>A (p.Trp275Arg) n.594T>A c.786T>A c.418T>A (p.Trp140Arg) c.703T>A (p.Trp235Arg) n.765T>A c.580T>A c.94T>A (p.Trp32Arg) c.631T>A (p.Trp211Arg) c.107+35854T>A (n.107+35854T>A) c.637T>A (p.Trp213Arg) n.3234T>A c.141T>A c.616T>A (p.Trp206Arg) c.*305T>A (n.*305T>A) c.824T>A (n.824T>A) c.694T>A (p.Trp232Arg) c.283T>A (p.Trp95Arg) | |
| 5 | g.162103960T>C | CA362185119 | GABRG2 | c.665T>C c.823T>C (p.Trp275Arg) n.594T>C c.786T>C c.418T>C (p.Trp140Arg) c.703T>C (p.Trp235Arg) n.765T>C c.580T>C c.94T>C (p.Trp32Arg) c.631T>C (p.Trp211Arg) c.107+35854T>C (n.107+35854T>C) c.637T>C (p.Trp213Arg) n.3234T>C c.141T>C c.616T>C (p.Trp206Arg) c.*305T>C (n.*305T>C) c.824T>C (n.824T>C) c.694T>C (p.Trp232Arg) c.283T>C (p.Trp95Arg) | |
| 5 | g.162103960T>G | CA362185120 | GABRG2 | c.665T>G c.823T>G (p.Trp275Gly) n.594T>G c.786T>G c.418T>G (p.Trp140Gly) c.703T>G (p.Trp235Gly) n.765T>G c.580T>G c.94T>G (p.Trp32Gly) c.631T>G (p.Trp211Gly) c.107+35854T>G (n.107+35854T>G) c.637T>G (p.Trp213Gly) n.3234T>G c.141T>G c.616T>G (p.Trp206Gly) c.*305T>G (n.*305T>G) c.824T>G (n.824T>G) c.694T>G (p.Trp232Gly) c.283T>G (p.Trp95Gly) | |
| 5 | g.162103961G>A | CA362185121 | GABRG2 | c.666G>A c.824G>A (p.Trp275Ter) n.595G>A c.787G>A c.419G>A (p.Trp140Ter) c.704G>A (p.Trp235Ter) n.766G>A c.581G>A c.95G>A (p.Trp32Ter) c.632G>A (p.Trp211Ter) c.107+35855G>A (n.107+35855G>A) c.638G>A (p.Trp213Ter) n.3235G>A c.142G>A c.617G>A (p.Trp206Ter) c.*306G>A (n.*306G>A) c.825G>A (n.825G>A) c.695G>A (p.Trp232Ter) c.284G>A (p.Trp95Ter) | ClinVar dbSNP |
| 5 | g.162103961G>C | CA362185122 | GABRG2 | c.666G>C c.824G>C (p.Trp275Ser) n.595G>C c.787G>C c.419G>C (p.Trp140Ser) c.704G>C (p.Trp235Ser) n.766G>C c.581G>C c.95G>C (p.Trp32Ser) c.632G>C (p.Trp211Ser) c.107+35855G>C (n.107+35855G>C) c.638G>C (p.Trp213Ser) n.3235G>C c.142G>C c.617G>C (p.Trp206Ser) c.*306G>C (n.*306G>C) c.825G>C (n.825G>C) c.695G>C (p.Trp232Ser) c.284G>C (p.Trp95Ser) | |
| 5 | g.162103961G= | CA1596365222 | GABRG2 | c.666G= c.824G= (p.Trp275=) n.595G= c.787G= c.419G= (p.Trp140=) c.704G= (p.Trp235=) n.766G= c.581G= c.95G= (p.Trp32=) c.632G= (p.Trp211=) c.107+35855G= (n.107+35855G=) c.638G= (p.Trp213=) n.3235G= c.142G= c.617G= (p.Trp206=) c.*306G= (n.*306G=) c.825G= (n.825G=) c.695G= (p.Trp232=) c.284G= (p.Trp95=) | |
| 5 | g.162103961G>T | CA362185123 | GABRG2 | c.666G>T c.824G>T (p.Trp275Leu) n.595G>T c.787G>T c.419G>T (p.Trp140Leu) c.704G>T (p.Trp235Leu) n.766G>T c.581G>T c.95G>T (p.Trp32Leu) c.632G>T (p.Trp211Leu) c.107+35855G>T (n.107+35855G>T) c.638G>T (p.Trp213Leu) n.3235G>T c.142G>T c.617G>T (p.Trp206Leu) c.*306G>T (n.*306G>T) c.825G>T (n.825G>T) c.695G>T (p.Trp232Leu) c.284G>T (p.Trp95Leu) | |
| 5 | g.162103962G>A | CA131112331 | GABRG2 | c.667G>A c.825G>A (p.Trp275Ter) n.596G>A c.788G>A c.420G>A (p.Trp140Ter) c.705G>A (p.Trp235Ter) n.767G>A c.582G>A c.96G>A (p.Trp32Ter) c.633G>A (p.Trp211Ter) c.107+35856G>A (n.107+35856G>A) c.639G>A (p.Trp213Ter) n.3236G>A c.143G>A c.618G>A (p.Trp206Ter) c.*307G>A (n.*307G>A) c.826G>A (n.826G>A) c.696G>A (p.Trp232Ter) c.285G>A (p.Trp95Ter) | dbSNP |
| 5 | g.162103962G>C | CA362185124 | GABRG2 | c.667G>C c.825G>C (p.Trp275Cys) n.596G>C c.788G>C c.420G>C (p.Trp140Cys) c.705G>C (p.Trp235Cys) n.767G>C c.582G>C c.96G>C (p.Trp32Cys) c.633G>C (p.Trp211Cys) c.107+35856G>C (n.107+35856G>C) c.639G>C (p.Trp213Cys) n.3236G>C c.143G>C c.618G>C (p.Trp206Cys) c.*307G>C (n.*307G>C) c.826G>C (n.826G>C) c.696G>C (p.Trp232Cys) c.285G>C (p.Trp95Cys) | |
| 5 | g.162103962G= | CA1596365223 | GABRG2 | c.667G= c.825G= (p.Trp275=) n.596G= c.788G= c.420G= (p.Trp140=) c.705G= (p.Trp235=) n.767G= c.582G= c.96G= (p.Trp32=) c.633G= (p.Trp211=) c.107+35856G= (n.107+35856G=) c.639G= (p.Trp213=) n.3236G= c.143G= c.618G= (p.Trp206=) c.*307G= (n.*307G=) c.826G= (n.826G=) c.696G= (p.Trp232=) c.285G= (p.Trp95=) | |
| 5 | g.162103962G>T | CA362185125 | GABRG2 | c.667G>T c.825G>T (p.Trp275Cys) n.596G>T c.788G>T c.420G>T (p.Trp140Cys) c.705G>T (p.Trp235Cys) n.767G>T c.582G>T c.96G>T (p.Trp32Cys) c.633G>T (p.Trp211Cys) c.107+35856G>T (n.107+35856G>T) c.639G>T (p.Trp213Cys) n.3236G>T c.143G>T c.618G>T (p.Trp206Cys) c.*307G>T (n.*307G>T) c.826G>T (n.826G>T) c.696G>T (p.Trp232Cys) c.285G>T (p.Trp95Cys) | |
| 5 | g.162103963A>C | CA447609983 | GABRG2 | c.668A>C c.826A>C (p.Arg276=) n.597A>C c.789A>C c.421A>C (p.Arg141=) c.706A>C (p.Arg236=) n.768A>C c.583A>C c.97A>C (p.Arg33=) c.634A>C (p.Arg212=) c.107+35857A>C (n.107+35857A>C) c.640A>C (p.Arg214=) n.3237A>C c.144A>C c.619A>C (p.Arg207=) c.*308A>C (n.*308A>C) c.827A>C (n.827A>C) c.697A>C (p.Arg233=) c.286A>C (p.Arg96=) | |
| 5 | g.162103963A>G | CA362185126 | GABRG2 | c.668A>G c.826A>G (p.Arg276Gly) n.597A>G c.789A>G c.421A>G (p.Arg141Gly) c.706A>G (p.Arg236Gly) n.768A>G c.583A>G c.97A>G (p.Arg33Gly) c.634A>G (p.Arg212Gly) c.107+35857A>G (n.107+35857A>G) c.640A>G (p.Arg214Gly) n.3237A>G c.144A>G c.619A>G (p.Arg207Gly) c.*308A>G (n.*308A>G) c.827A>G (n.827A>G) c.697A>G (p.Arg233Gly) c.286A>G (p.Arg96Gly) | |
| 5 | g.162103963A>T | CA362185127 | GABRG2 | c.668A>T c.826A>T (p.Arg276Trp) n.597A>T c.789A>T c.421A>T (p.Arg141Trp) c.706A>T (p.Arg236Trp) n.768A>T c.583A>T c.97A>T (p.Arg33Trp) c.634A>T (p.Arg212Trp) c.107+35857A>T (n.107+35857A>T) c.640A>T (p.Arg214Trp) n.3237A>T c.144A>T c.619A>T (p.Arg207Trp) c.*308A>T (n.*308A>T) c.827A>T (n.827A>T) c.697A>T (p.Arg233Trp) c.286A>T (p.Arg96Trp) | |
| 5 | g.162103964G>A | CA362185130 | GABRG2 | c.669G>A c.827G>A (p.Arg276Lys) n.598G>A c.790G>A c.422G>A (p.Arg141Lys) c.707G>A (p.Arg236Lys) n.769G>A c.584G>A c.98G>A (p.Arg33Lys) c.635G>A (p.Arg212Lys) c.107+35858G>A (n.107+35858G>A) c.641G>A (p.Arg214Lys) n.3238G>A c.145G>A c.620G>A (p.Arg207Lys) c.*309G>A (n.*309G>A) c.828G>A (n.828G>A) c.698G>A (p.Arg233Lys) c.287G>A (p.Arg96Lys) | |
| 5 | g.162103964G>C | CA362185128 | GABRG2 | c.669G>C c.827G>C (p.Arg276Thr) n.598G>C c.790G>C c.422G>C (p.Arg141Thr) c.707G>C (p.Arg236Thr) n.769G>C c.584G>C c.98G>C (p.Arg33Thr) c.635G>C (p.Arg212Thr) c.107+35858G>C (n.107+35858G>C) c.641G>C (p.Arg214Thr) n.3238G>C c.145G>C c.620G>C (p.Arg207Thr) c.*309G>C (n.*309G>C) c.828G>C (n.828G>C) c.698G>C (p.Arg233Thr) c.287G>C (p.Arg96Thr) | |
| 5 | g.162103964G>T | CA362185129 | GABRG2 | c.669G>T c.827G>T (p.Arg276Met) n.598G>T c.790G>T c.422G>T (p.Arg141Met) c.707G>T (p.Arg236Met) n.769G>T c.584G>T c.98G>T (p.Arg33Met) c.635G>T (p.Arg212Met) c.107+35858G>T (n.107+35858G>T) c.641G>T (p.Arg214Met) n.3238G>T c.145G>T c.620G>T (p.Arg207Met) c.*309G>T (n.*309G>T) c.828G>T (n.828G>T) c.698G>T (p.Arg233Met) c.287G>T (p.Arg96Met) | |
| 5 | g.162103965G>A | CA447609988 | GABRG2 | c.670G>A c.828G>A (p.Arg276=) n.599G>A c.791G>A c.423G>A (p.Arg141=) c.708G>A (p.Arg236=) n.770G>A c.585G>A c.99G>A (p.Arg33=) c.636G>A (p.Arg212=) c.107+35859G>A (n.107+35859G>A) c.642G>A (p.Arg214=) n.3239G>A c.146G>A c.621G>A (p.Arg207=) c.*310G>A (n.*310G>A) c.829G>A (n.829G>A) c.699G>A (p.Arg233=) c.288G>A (p.Arg96=) | |
| 5 | g.162103965G>C | CA362185131 | GABRG2 | c.670G>C c.828G>C (p.Arg276Ser) n.599G>C c.791G>C c.423G>C (p.Arg141Ser) c.708G>C (p.Arg236Ser) n.770G>C c.585G>C c.99G>C (p.Arg33Ser) c.636G>C (p.Arg212Ser) c.107+35859G>C (n.107+35859G>C) c.642G>C (p.Arg214Ser) n.3239G>C c.146G>C c.621G>C (p.Arg207Ser) c.*310G>C (n.*310G>C) c.829G>C (n.829G>C) c.699G>C (p.Arg233Ser) c.288G>C (p.Arg96Ser) | |
| 5 | g.162103965G>T | CA362185132 | GABRG2 | c.670G>T c.828G>T (p.Arg276Ser) n.599G>T c.791G>T c.423G>T (p.Arg141Ser) c.708G>T (p.Arg236Ser) n.770G>T c.585G>T c.99G>T (p.Arg33Ser) c.636G>T (p.Arg212Ser) c.107+35859G>T (n.107+35859G>T) c.642G>T (p.Arg214Ser) n.3239G>T c.146G>T c.621G>T (p.Arg207Ser) c.*310G>T (n.*310G>T) c.829G>T (n.829G>T) c.699G>T (p.Arg233Ser) c.288G>T (p.Arg96Ser) | |
| 5 | g.162103966C>A | CA362185133 | GABRG2 | c.671C>A c.829C>A (p.Leu277Ile) n.600C>A c.792C>A c.424C>A (p.Leu142Ile) c.709C>A (p.Leu237Ile) n.771C>A c.586C>A c.100C>A (p.Leu34Ile) c.637C>A (p.Leu213Ile) c.107+35860C>A (n.107+35860C>A) c.643C>A (p.Leu215Ile) n.3240C>A c.147C>A c.622C>A (p.Leu208Ile) c.*311C>A (n.*311C>A) c.830C>A (n.830C>A) c.700C>A (p.Leu234Ile) c.289C>A (p.Leu97Ile) | |
| 5 | g.162103966C>G | CA362185134 | GABRG2 | c.671C>G c.829C>G (p.Leu277Val) n.600C>G c.792C>G c.424C>G (p.Leu142Val) c.709C>G (p.Leu237Val) n.771C>G c.586C>G c.100C>G (p.Leu34Val) c.637C>G (p.Leu213Val) c.107+35860C>G (n.107+35860C>G) c.643C>G (p.Leu215Val) n.3240C>G c.147C>G c.622C>G (p.Leu208Val) c.*311C>G (n.*311C>G) c.830C>G (n.830C>G) c.700C>G (p.Leu234Val) c.289C>G (p.Leu97Val) | |
| 5 | g.162103966C>T | CA362185135 | GABRG2 | c.671C>T c.829C>T (p.Leu277Phe) n.600C>T c.792C>T c.424C>T (p.Leu142Phe) c.709C>T (p.Leu237Phe) n.771C>T c.586C>T c.100C>T (p.Leu34Phe) c.637C>T (p.Leu213Phe) c.107+35860C>T (n.107+35860C>T) c.643C>T (p.Leu215Phe) n.3240C>T c.147C>T c.622C>T (p.Leu208Phe) c.*311C>T (n.*311C>T) c.830C>T (n.830C>T) c.700C>T (p.Leu234Phe) c.289C>T (p.Leu97Phe) | |
| 5 | g.162103967T>A | CA362185136 | GABRG2 | c.672T>A c.830T>A (p.Leu277His) n.601T>A c.793T>A c.425T>A (p.Leu142His) c.710T>A (p.Leu237His) n.772T>A c.587T>A c.101T>A (p.Leu34His) c.638T>A (p.Leu213His) c.107+35861T>A (n.107+35861T>A) c.644T>A (p.Leu215His) n.3241T>A c.148T>A c.623T>A (p.Leu208His) c.*312T>A (n.*312T>A) c.831T>A (n.831T>A) c.701T>A (p.Leu234His) c.290T>A (p.Leu97His) | |
| 5 | g.162103967T>C | CA362185137 | GABRG2 | c.672T>C c.830T>C (p.Leu277Pro) n.601T>C c.793T>C c.425T>C (p.Leu142Pro) c.710T>C (p.Leu237Pro) n.772T>C c.587T>C c.101T>C (p.Leu34Pro) c.638T>C (p.Leu213Pro) c.107+35861T>C (n.107+35861T>C) c.644T>C (p.Leu215Pro) n.3241T>C c.148T>C c.623T>C (p.Leu208Pro) c.*312T>C (n.*312T>C) c.831T>C (n.831T>C) c.701T>C (p.Leu234Pro) c.290T>C (p.Leu97Pro) | |
| 5 | g.162103967T>G | CA362185138 | GABRG2 | c.672T>G c.830T>G (p.Leu277Arg) n.601T>G c.793T>G c.425T>G (p.Leu142Arg) c.710T>G (p.Leu237Arg) n.772T>G c.587T>G c.101T>G (p.Leu34Arg) c.638T>G (p.Leu213Arg) c.107+35861T>G (n.107+35861T>G) c.644T>G (p.Leu215Arg) n.3241T>G c.148T>G c.623T>G (p.Leu208Arg) c.*312T>G (n.*312T>G) c.831T>G (n.831T>G) c.701T>G (p.Leu234Arg) c.290T>G (p.Leu97Arg) | |
| 5 | g.162103968T>A | CA447609989 | GABRG2 | c.673T>A c.831T>A (p.Leu277=) n.602T>A c.794T>A c.426T>A (p.Leu142=) c.711T>A (p.Leu237=) n.773T>A c.588T>A c.102T>A (p.Leu34=) c.639T>A (p.Leu213=) c.107+35862T>A (n.107+35862T>A) c.645T>A (p.Leu215=) n.3242T>A c.149T>A c.624T>A (p.Leu208=) c.*313T>A (n.*313T>A) c.832T>A (n.832T>A) c.702T>A (p.Leu234=) c.291T>A (p.Leu97=) | |
| 5 | g.162103968T>C | CA447609991 | GABRG2 | c.673T>C c.831T>C (p.Leu277=) n.602T>C c.794T>C c.426T>C (p.Leu142=) c.711T>C (p.Leu237=) n.773T>C c.588T>C c.102T>C (p.Leu34=) c.639T>C (p.Leu213=) c.107+35862T>C (n.107+35862T>C) c.645T>C (p.Leu215=) n.3242T>C c.149T>C c.624T>C (p.Leu208=) c.*313T>C (n.*313T>C) c.832T>C (n.832T>C) c.702T>C (p.Leu234=) c.291T>C (p.Leu97=) | |
| 5 | g.162103968T>G | CA447609990 | GABRG2 | c.673T>G c.831T>G (p.Leu277=) n.602T>G c.794T>G c.426T>G (p.Leu142=) c.711T>G (p.Leu237=) n.773T>G c.588T>G c.102T>G (p.Leu34=) c.639T>G (p.Leu213=) c.107+35862T>G (n.107+35862T>G) c.645T>G (p.Leu215=) n.3242T>G c.149T>G c.624T>G (p.Leu208=) c.*313T>G (n.*313T>G) c.832T>G (n.832T>G) c.702T>G (p.Leu234=) c.291T>G (p.Leu97=) | |
| 5 | g.162103969T>A | CA362185139 | GABRG2 | c.674T>A c.832T>A (p.Tyr278Asn) n.603T>A c.795T>A c.427T>A (p.Tyr143Asn) c.712T>A (p.Tyr238Asn) n.774T>A c.589T>A c.103T>A (p.Tyr35Asn) c.640T>A (p.Tyr214Asn) c.107+35863T>A (n.107+35863T>A) c.646T>A (p.Tyr216Asn) n.3243T>A c.150T>A c.625T>A (p.Tyr209Asn) c.*314T>A (n.*314T>A) c.833T>A (n.833T>A) c.703T>A (p.Tyr235Asn) c.292T>A (p.Tyr98Asn) | |
| 5 | g.162103969T>C | CA362185140 | GABRG2 | c.674T>C c.832T>C (p.Tyr278His) n.603T>C c.795T>C c.427T>C (p.Tyr143His) c.712T>C (p.Tyr238His) n.774T>C c.589T>C c.103T>C (p.Tyr35His) c.640T>C (p.Tyr214His) c.107+35863T>C (n.107+35863T>C) c.646T>C (p.Tyr216His) n.3243T>C c.150T>C c.625T>C (p.Tyr209His) c.*314T>C (n.*314T>C) c.833T>C (n.833T>C) c.703T>C (p.Tyr235His) c.292T>C (p.Tyr98His) | |
| 5 | g.162103969T>G | CA362185141 | GABRG2 | c.674T>G c.832T>G (p.Tyr278Asp) n.603T>G c.795T>G c.427T>G (p.Tyr143Asp) c.712T>G (p.Tyr238Asp) n.774T>G c.589T>G c.103T>G (p.Tyr35Asp) c.640T>G (p.Tyr214Asp) c.107+35863T>G (n.107+35863T>G) c.646T>G (p.Tyr216Asp) n.3243T>G c.150T>G c.625T>G (p.Tyr209Asp) c.*314T>G (n.*314T>G) c.833T>G (n.833T>G) c.703T>G (p.Tyr235Asp) c.292T>G (p.Tyr98Asp) | |
| 5 | g.162103970A>C | CA362185144 | GABRG2 | c.675A>C c.833A>C (p.Tyr278Ser) n.604A>C c.796A>C c.428A>C (p.Tyr143Ser) c.713A>C (p.Tyr238Ser) n.775A>C c.590A>C c.104A>C (p.Tyr35Ser) c.641A>C (p.Tyr214Ser) c.107+35864A>C (n.107+35864A>C) c.647A>C (p.Tyr216Ser) n.3244A>C c.151A>C c.626A>C (p.Tyr209Ser) c.*315A>C (n.*315A>C) c.834A>C (n.834A>C) c.704A>C (p.Tyr235Ser) c.293A>C (p.Tyr98Ser) |