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 |
|---|---|---|---|---|---|
| 12 | g.102843648_102846953del | CA251545 | PAH | c.914_1199+1del c.899_1184+1del n.673_958+1del n.576_861+1del c.74-2519_303+1del n.429_714+1del c.913-2519_1142+1del | ClinVar |
| 12 | g.102844360_102844367del | CA2695217228 | PAH | c.1037_1044del (p.Gly346ValfsTer5) c.1022_1029del (p.Gly341ValfsTer5) n.796_803del n.699_706del c.141_148del n.552_559del c.980_987del (p.Gly327ValfsTer5) | |
| 12 | g.102844360G>A | CA481375753 | PAH | c.1041C>T (p.Leu347=) c.1026C>T (p.Leu342=) n.800C>T n.703C>T c.145C>T n.556C>T c.984C>T (p.Leu328=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.102844360G>C | CA481375754 | PAH | c.1041C>G (p.Leu347=) c.1026C>G (p.Leu342=) n.800C>G n.703C>G c.145C>G n.556C>G c.984C>G (p.Leu328=) | |
| 12 | g.102844360G= | CA2059448126 | PAH | c.1041C= (p.Leu347=) c.1026C= (p.Leu342=) n.800C= n.703C= c.145C= n.556C= c.984C= (p.Leu328=) | |
| 12 | g.102844360G>T | CA481375755 | PAH | c.1041C>A (p.Leu347=) c.1026C>A (p.Leu342=) n.800C>A n.703C>A c.145C>A n.556C>A c.984C>A (p.Leu328=) | |
| 12 | g.102844361A= | CA2059448130 | PAH | c.1040T= (p.Leu347=) c.1025T= (p.Leu342=) n.799T= n.702T= c.144T= n.555T= c.983T= (p.Leu328=) | |
| 12 | g.102844361A>C | CA242744442 | PAH | c.1040T>G (p.Leu347Arg) c.1025T>G (p.Leu342Arg) n.799T>G n.702T>G c.144T>G n.555T>G c.983T>G (p.Leu328Arg) | dbSNP |
| 12 | g.102844361A>G | CA386493416 | PAH | c.1040T>C (p.Leu347Pro) c.1025T>C (p.Leu342Pro) n.799T>C n.702T>C c.144T>C n.555T>C c.983T>C (p.Leu328Pro) | |
| 12 | g.102844361A>T | CA386493417 | PAH | c.1040T>A (p.Leu347His) c.1025T>A (p.Leu342His) n.799T>A n.702T>A c.144T>A n.555T>A c.983T>A (p.Leu328His) | |
| 12 | g.102844362G>A | CA229296 | PAH | c.1039C>T (p.Leu347Phe) c.1024C>T (p.Leu342Phe) n.798C>T n.701C>T c.143C>T n.554C>T c.982C>T (p.Leu328Phe) | ClinVar dbSNP |
| 12 | g.102844362G>C | CA386493418 | PAH | c.1039C>G (p.Leu347Val) c.1024C>G (p.Leu342Val) n.798C>G n.701C>G c.143C>G n.554C>G c.982C>G (p.Leu328Val) | |
| 12 | g.102844362G= | CA2059448140 | PAH | c.1039C= (p.Leu347=) c.1024C= (p.Leu342=) n.798C= n.701C= c.143C= n.554C= c.982C= (p.Leu328=) | |
| 12 | g.102844362G>T | CA386493419 | PAH | c.1039C>A (p.Leu347Ile) c.1024C>A (p.Leu342Ile) n.798C>A n.701C>A c.143C>A n.554C>A c.982C>A (p.Leu328Ile) | |
| 12 | g.102844362_102844363delinsGC | CA2059448138 | PAH | c.1038_1039delinsGC (p.Gly346=) c.1023_1024delinsGC (p.Gly341=) n.797_798delinsGC n.700_701delinsGC c.142_143delinsGC n.553_554delinsGC c.981_982delinsGC (p.Gly327=) | |
| 12 | g.102844363C>A | CA481375756 | PAH | c.1038G>T (p.Gly346=) c.1023G>T (p.Gly341=) n.797G>T n.700G>T c.142G>T n.553G>T c.981G>T (p.Gly327=) | |
| 12 | g.102844363C>G | CA481375757 | PAH | c.1038G>C (p.Gly346=) c.1023G>C (p.Gly341=) n.797G>C n.700G>C c.142G>C n.553G>C c.981G>C (p.Gly327=) | |
| 12 | g.102844363C>T | CA481375758 | PAH | c.1038G>A (p.Gly346=) c.1023G>A (p.Gly341=) n.797G>A n.700G>A c.142G>A n.553G>A c.981G>A (p.Gly327=) | |
| 12 | g.102844365del | CA229295 | PAH | c.1038del (p.Leu347SerfsTer?) c.1023del (p.Leu342SerfsTer?) n.797del n.700del c.142del n.553del c.981del (p.Leu328SerfsTer?) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102844364C>A | CA386493420 | PAH | c.1037G>T (p.Gly346Val) c.1022G>T (p.Gly341Val) n.796G>T n.699G>T c.141G>T n.552G>T c.980G>T (p.Gly327Val) | gnomAD v4 |
| 12 | g.102844364C= | CA2059448155 | PAH | c.1037G= (p.Gly346=) c.1022G= (p.Gly341=) n.796G= n.699G= c.141G= n.552G= c.980G= (p.Gly327=) | |
| 12 | g.102844364C>G | CA386493421 | PAH | c.1037G>C (p.Gly346Ala) c.1022G>C (p.Gly341Ala) n.796G>C n.699G>C c.141G>C n.552G>C c.980G>C (p.Gly327Ala) | COSMIC |
| 12 | g.102844364C>T | CA16020921 | PAH | c.1037G>A (p.Gly346Glu) c.1022G>A (p.Gly341Glu) n.796G>A n.699G>A c.141G>A n.552G>A c.980G>A (p.Gly327Glu) | ClinVar dbSNP |
| 12 | g.102844365C>A | CA386493422 | PAH | c.1036G>T (p.Gly346Trp) c.1021G>T (p.Gly341Trp) n.795G>T n.698G>T c.140G>T n.551G>T c.979G>T (p.Gly327Trp) | |
| 12 | g.102844365C= | CA2059448169 | PAH | c.1036G= (p.Gly346=) c.1021G= (p.Gly341=) n.795G= n.698G= c.140G= n.551G= c.979G= (p.Gly327=) | |
| 12 | g.102844365C>G | CA229294 | PAH | c.1036G>C (p.Gly346Arg) c.1021G>C (p.Gly341Arg) n.795G>C n.698G>C c.140G>C n.551G>C c.979G>C (p.Gly327Arg) | ClinVar dbSNP |
| 12 | g.102844365C>T | CA229292 | PAH | c.1036G>A (p.Gly346Arg) c.1021G>A (p.Gly341Arg) n.795G>A n.698G>A c.140G>A n.551G>A c.979G>A (p.Gly327Arg) | ClinVar dbSNP |
| 12 | g.102844366A>C | CA481375759 | PAH | c.1035T>G (p.Ala345=) c.1020T>G (p.Ala340=) n.794T>G n.697T>G c.139T>G n.550T>G c.978T>G (p.Ala326=) | |
| 12 | g.102844366A>G | CA481375760 | PAH | c.1035T>C (p.Ala345=) c.1020T>C (p.Ala340=) n.794T>C n.697T>C c.139T>C n.550T>C c.978T>C (p.Ala326=) | |
| 12 | g.102844366A>T | CA481375761 | PAH | c.1035T>A (p.Ala345=) c.1020T>A (p.Ala340=) n.794T>A n.697T>A c.139T>A n.550T>A c.978T>A (p.Ala326=) | COSMIC |
| 12 | g.102844367G>A | CA386493425 | PAH | c.1034C>T (p.Ala345Val) c.1019C>T (p.Ala340Val) n.793C>T n.696C>T c.138C>T n.549C>T c.977C>T (p.Ala326Val) | |
| 12 | g.102844367G>C | CA386493423 | PAH | c.1034C>G (p.Ala345Gly) c.1019C>G (p.Ala340Gly) n.793C>G n.696C>G c.138C>G n.549C>G c.977C>G (p.Ala326Gly) | |
| 12 | g.102844367G>T | CA386493424 | PAH | c.1034C>A (p.Ala345Asp) c.1019C>A (p.Ala340Asp) n.793C>A n.696C>A c.138C>A n.549C>A c.977C>A (p.Ala326Asp) | |
| 12 | g.102844368C>A | CA286497 | PAH | c.1033G>T (p.Ala345Ser) c.1018G>T (p.Ala340Ser) n.792G>T n.695G>T c.137G>T n.548G>T c.976G>T (p.Ala326Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102844368C= | CA2059448188 | PAH | c.1033G= (p.Ala345=) c.1018G= (p.Ala340=) n.792G= n.695G= c.137G= n.548G= c.976G= (p.Ala326=) | |
| 12 | g.102844368C>G | CA386493426 | PAH | c.1033G>C (p.Ala345Pro) c.1018G>C (p.Ala340Pro) n.792G>C n.695G>C c.137G>C n.548G>C c.976G>C (p.Ala326Pro) | |
| 12 | g.102844368C>T | CA229291 | PAH | c.1033G>A (p.Ala345Thr) c.1018G>A (p.Ala340Thr) n.792G>A n.695G>A c.137G>A n.548G>A c.976G>A (p.Ala326Thr) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102844369A= | CA2059448205 | PAH | c.1032T= (p.Gly344=) c.1017T= (p.Gly339=) n.791T= n.694T= c.136T= n.547T= c.975T= (p.Gly325=) | |
| 12 | g.102844369A>C | CA481375762 | PAH | c.1032T>G (p.Gly344=) c.1017T>G (p.Gly339=) n.791T>G n.694T>G c.136T>G n.547T>G c.975T>G (p.Gly325=) | |
| 12 | g.102844369A>G | CA6748764 | PAH | c.1032T>C (p.Gly344=) c.1017T>C (p.Gly339=) n.791T>C n.694T>C c.136T>C n.547T>C c.975T>C (p.Gly325=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102844369A>T | CA481375763 | PAH | c.1032T>A (p.Gly344=) c.1017T>A (p.Gly339=) n.791T>A n.694T>A c.136T>A n.547T>A c.975T>A (p.Gly325=) | |
| 12 | g.102844370C>A | CA229290 | PAH | c.1031G>T (p.Gly344Val) c.1016G>T (p.Gly339Val) n.790G>T n.693G>T c.135G>T n.546G>T c.974G>T (p.Gly325Val) | ClinVar dbSNP |
| 12 | g.102844370C= | CA2059448215 | PAH | c.1031G= (p.Gly344=) c.1016G= (p.Gly339=) n.790G= n.693G= c.135G= n.546G= c.974G= (p.Gly325=) | |
| 12 | g.102844370C>G | CA386493427 | PAH | c.1031G>C (p.Gly344Ala) c.1016G>C (p.Gly339Ala) n.790G>C n.693G>C c.135G>C n.546G>C c.974G>C (p.Gly325Ala) | |
| 12 | g.102844370C>T | CA229288 | PAH | c.1031G>A (p.Gly344Asp) c.1016G>A (p.Gly339Asp) n.790G>A n.693G>A c.135G>A n.546G>A c.974G>A (p.Gly325Asp) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102844371C>A | CA386493428 | PAH | c.1030G>T (p.Gly344Cys) c.1015G>T (p.Gly339Cys) n.789G>T n.692G>T c.134G>T n.545G>T c.973G>T (p.Gly325Cys) | |
| 12 | g.102844371C= | CA2059448233 | PAH | c.1030G= (p.Gly344=) c.1015G= (p.Gly339=) n.789G= n.692G= c.134G= n.545G= c.973G= (p.Gly325=) | |
| 12 | g.102844371C>G | CA229287 | PAH | c.1030G>C (p.Gly344Arg) c.1015G>C (p.Gly339Arg) n.789G>C n.692G>C c.134G>C n.545G>C c.973G>C (p.Gly325Arg) | ClinVar dbSNP |
| 12 | g.102844371C>T | CA229285 | PAH | c.1030G>A (p.Gly344Ser) c.1015G>A (p.Gly339Ser) n.789G>A n.692G>A c.134G>A n.545G>A c.973G>A (p.Gly325Ser) | ClinVar dbSNP COSMIC |
| 12 | g.102844372A= | CA2059448243 | PAH | c.1029T= (p.Tyr343=) c.1014T= (p.Tyr338=) n.788T= n.691T= c.133T= n.544T= c.972T= (p.Tyr324=) |