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.102843710C>A | CA386493241 | PAH | c.1135G>T (p.Val379Phe) c.1120G>T (p.Val374Phe) n.894G>T n.797G>T c.239G>T n.650G>T c.1078G>T (p.Val360Phe) | |
| 12 | g.102843710C= | CA2059446594 | PAH | c.1135G= (p.Val379=) c.1120G= (p.Val374=) n.894G= n.797G= c.239G= n.650G= c.1078G= (p.Val360=) | |
| 12 | g.102843710C>G | CA6748739 | PAH | c.1135G>C (p.Val379Leu) c.1120G>C (p.Val374Leu) n.894G>C n.797G>C c.239G>C n.650G>C c.1078G>C (p.Val360Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102843710C>T | CA386493242 | PAH | c.1135G>A (p.Val379Ile) c.1120G>A (p.Val374Ile) n.894G>A n.797G>A c.239G>A n.650G>A c.1078G>A (p.Val360Ile) | |
| 12 | g.102843711A= | CA2059446599 | PAH | c.1134T= (p.Thr378=) c.1119T= (p.Thr373=) n.893T= n.796T= c.238T= n.649T= c.1077T= (p.Thr359=) | |
| 12 | g.102843711A>C | CA481375640 | PAH | c.1134T>G (p.Thr378=) c.1119T>G (p.Thr373=) n.893T>G n.796T>G c.238T>G n.649T>G c.1077T>G (p.Thr359=) | ClinVar dbSNP |
| 12 | g.102843711A>G | CA481375641 | PAH | c.1134T>C (p.Thr378=) c.1119T>C (p.Thr373=) n.893T>C n.796T>C c.238T>C n.649T>C c.1077T>C (p.Thr359=) | ClinVar dbSNP |
| 12 | g.102843711A>T | CA481375642 | PAH | c.1134T>A (p.Thr378=) c.1119T>A (p.Thr373=) n.893T>A n.796T>A c.238T>A n.649T>A c.1077T>A (p.Thr359=) | |
| 12 | g.102843712G>A | CA6748740 | PAH | c.1133C>T (p.Thr378Ile) c.1118C>T (p.Thr373Ile) n.892C>T n.795C>T c.237C>T n.648C>T c.1076C>T (p.Thr359Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102843712G>C | CA386493244 | PAH | c.1133C>G (p.Thr378Ser) c.1118C>G (p.Thr373Ser) n.892C>G n.795C>G c.237C>G n.648C>G c.1076C>G (p.Thr359Ser) | |
| 12 | g.102843712G= | CA2059446606 | PAH | c.1133C= (p.Thr378=) c.1118C= (p.Thr373=) n.892C= n.795C= c.237C= n.648C= c.1076C= (p.Thr359=) | |
| 12 | g.102843712G>T | CA386493243 | PAH | c.1133C>A (p.Thr378Asn) c.1118C>A (p.Thr373Asn) n.892C>A n.795C>A c.237C>A n.648C>A c.1076C>A (p.Thr359Asn) | |
| 12 | g.102843714_102843715del | CA2620507197 | PAH | c.1132_1133del (p.Thr378CysfsTer15) c.1117_1118del (p.Thr373CysfsTer15) n.891_892del n.794_795del c.236_237del n.647_648del c.1075_1076del (p.Thr359CysfsTer15) | gnomAD v4 |
| 12 | g.102843713T>A | CA229358 | PAH | c.1132A>T (p.Thr378Ser) c.1117A>T (p.Thr373Ser) n.891A>T n.794A>T c.236A>T n.647A>T c.1075A>T (p.Thr359Ser) | ClinVar dbSNP |
| 12 | g.102843713T>C | CA386493245 | PAH | c.1132A>G (p.Thr378Ala) c.1117A>G (p.Thr373Ala) n.891A>G n.794A>G c.236A>G n.647A>G c.1075A>G (p.Thr359Ala) | gnomAD v4 |
| 12 | g.102843713T>G | CA386493246 | PAH | c.1132A>C (p.Thr378Pro) c.1117A>C (p.Thr373Pro) n.891A>C n.794A>C c.236A>C n.647A>C c.1075A>C (p.Thr359Pro) | |
| 12 | g.102843713T= | CA2059446609 | PAH | c.1132A= (p.Thr378=) c.1117A= (p.Thr373=) n.891A= n.794A= c.236A= n.647A= c.1075A= (p.Thr359=) | |
| 12 | g.102843714G>A | CA481375644 | PAH | c.1131C>T (p.Tyr377=) c.1116C>T (p.Tyr372=) n.890C>T n.793C>T c.235C>T n.646C>T c.1074C>T (p.Tyr358=) | COSMIC |
| 12 | g.102843714G>C | CA386493247 | PAH | c.1131C>G (p.Tyr377Ter) c.1116C>G (p.Tyr372Ter) n.890C>G n.793C>G c.235C>G n.646C>G c.1074C>G (p.Tyr358Ter) | |
| 12 | g.102843714G>T | CA386493248 | PAH | c.1131C>A (p.Tyr377Ter) c.1116C>A (p.Tyr372Ter) n.890C>A n.793C>A c.235C>A n.646C>A c.1074C>A (p.Tyr358Ter) | |
| 12 | g.102843715T>A | CA386493249 | PAH | c.1130A>T (p.Tyr377Phe) c.1115A>T (p.Tyr372Phe) n.889A>T n.792A>T c.234A>T n.645A>T c.1073A>T (p.Tyr358Phe) | |
| 12 | g.102843715T>C | CA229357 | PAH | c.1130A>G (p.Tyr377Cys) c.1115A>G (p.Tyr372Cys) n.889A>G n.792A>G c.234A>G n.645A>G c.1073A>G (p.Tyr358Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102843715T>G | CA386493250 | PAH | c.1130A>C (p.Tyr377Ser) c.1115A>C (p.Tyr372Ser) n.889A>C n.792A>C c.234A>C n.645A>C c.1073A>C (p.Tyr358Ser) | |
| 12 | g.102843715T= | CA2059446617 | PAH | c.1130A= (p.Tyr377=) c.1115A= (p.Tyr372=) n.889A= n.792A= c.234A= n.645A= c.1073A= (p.Tyr358=) | |
| 12 | g.102843715_102843716delinsTA | CA2059446614 | PAH | c.1129_1130delinsTA (p.Tyr377=) c.1114_1115delinsTA (p.Tyr372=) n.888_889delinsTA n.791_792delinsTA c.233_234delinsTA n.644_645delinsTA c.1072_1073delinsTA (p.Tyr358=) | |
| 12 | g.102843716A= | CA2059446631 | PAH | c.1129T= (p.Tyr377=) c.1114T= (p.Tyr372=) n.888T= n.791T= c.233T= n.644T= c.1072T= (p.Tyr358=) | |
| 12 | g.102843716A>C | CA16020946 | PAH | c.1129T>G (p.Tyr377Asp) c.1114T>G (p.Tyr372Asp) n.888T>G n.791T>G c.233T>G n.644T>G c.1072T>G (p.Tyr358Asp) | ClinVar dbSNP |
| 12 | g.102843716A>G | CA386493252 | PAH | c.1129T>C (p.Tyr377His) c.1114T>C (p.Tyr372His) n.888T>C n.791T>C c.233T>C n.644T>C c.1072T>C (p.Tyr358His) | |
| 12 | g.102843716A>T | CA386493251 | PAH | c.1129T>A (p.Tyr377Asn) c.1114T>A (p.Tyr372Asn) n.888T>A n.791T>A c.233T>A n.644T>A c.1072T>A (p.Tyr358Asn) | dbSNP |
| 12 | g.102843717del | CA229356 | PAH | c.1129del (p.Tyr377ThrfsTer23) c.1114del (p.Tyr372ThrfsTer23) n.888del n.791del c.233del n.644del c.1072del (p.Tyr358ThrfsTer23) | ClinVar dbSNP |
| 12 | g.102843717A>C | CA386493253 | PAH | c.1128T>G (p.Asn376Lys) c.1113T>G (p.Asn371Lys) n.887T>G n.790T>G c.232T>G n.643T>G c.1071T>G (p.Asn357Lys) | |
| 12 | g.102843717A>G | CA481375645 | PAH | c.1128T>C (p.Asn376=) c.1113T>C (p.Asn371=) n.887T>C n.790T>C c.232T>C n.643T>C c.1071T>C (p.Asn357=) | |
| 12 | g.102843717A>T | CA386493254 | PAH | c.1128T>A (p.Asn376Lys) c.1113T>A (p.Asn371Lys) n.887T>A n.790T>A c.232T>A n.643T>A c.1071T>A (p.Asn357Lys) | |
| 12 | g.102843717_102843718delinsAT | CA2059446635 | PAH | c.1127_1128delinsAT (p.Asn376=) c.1112_1113delinsAT (p.Asn371=) n.886_887delinsAT n.789_790delinsAT c.231_232delinsAT n.642_643delinsAT c.1070_1071delinsAT (p.Asn357=) | |
| 12 | g.102843718T>A | CA386493255 | PAH | c.1127A>T (p.Asn376Ile) c.1112A>T (p.Asn371Ile) n.886A>T n.789A>T c.231A>T n.642A>T c.1070A>T (p.Asn357Ile) | |
| 12 | g.102843718T>C | CA386493256 | PAH | c.1127A>G (p.Asn376Ser) c.1112A>G (p.Asn371Ser) n.886A>G n.789A>G c.231A>G n.642A>G c.1070A>G (p.Asn357Ser) | ClinVar gnomAD v4 |
| 12 | g.102843718T>G | CA386493257 | PAH | c.1127A>C (p.Asn376Thr) c.1112A>C (p.Asn371Thr) n.886A>C n.789A>C c.231A>C n.642A>C c.1070A>C (p.Asn357Thr) | dbSNP |
| 12 | g.102843718T= | CA2059446639 | PAH | c.1127A= (p.Asn376=) c.1112A= (p.Asn371=) n.886A= n.789A= c.231A= n.642A= c.1070A= (p.Asn357=) | |
| 12 | g.102843721del | CA229355 | PAH | c.1127del (p.Asn376IlefsTer24) c.1112del (p.Asn371IlefsTer24) n.886del n.789del c.231del n.642del c.1070del (p.Asn357IlefsTer24) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102843719T>A | CA386493258 | PAH | c.1126A>T (p.Asn376Tyr) c.1111A>T (p.Asn371Tyr) n.885A>T n.788A>T c.230A>T n.641A>T c.1069A>T (p.Asn357Tyr) | |
| 12 | g.102843719T>C | CA386493259 | PAH | c.1126A>G (p.Asn376Asp) c.1111A>G (p.Asn371Asp) n.885A>G n.788A>G c.230A>G n.641A>G c.1069A>G (p.Asn357Asp) | |
| 12 | g.102843719T>G | CA386493260 | PAH | c.1126A>C (p.Asn376His) c.1111A>C (p.Asn371His) n.885A>C n.788A>C c.230A>C n.641A>C c.1069A>C (p.Asn357His) | |
| 12 | g.102843720T>A | CA386493261 | PAH | c.1125A>T (p.Gln375His) c.1110A>T (p.Gln370His) n.884A>T n.787A>T c.229A>T n.640A>T c.1068A>T (p.Gln356His) | |
| 12 | g.102843720T>C | CA481375646 | PAH | c.1125A>G (p.Gln375=) c.1110A>G (p.Gln370=) n.884A>G n.787A>G c.229A>G n.640A>G c.1068A>G (p.Gln356=) | |
| 12 | g.102843720T>G | CA386493262 | PAH | c.1125A>C (p.Gln375His) c.1110A>C (p.Gln370His) n.884A>C n.787A>C c.229A>C n.640A>C c.1068A>C (p.Gln356His) | |
| 12 | g.102843721T>A | CA386493264 | PAH | c.1124A>T (p.Gln375Leu) c.1109A>T (p.Gln370Leu) n.883A>T n.786A>T c.228A>T n.639A>T c.1067A>T (p.Gln356Leu) | |
| 12 | g.102843721T>C | CA16020945 | PAH | c.1124A>G (p.Gln375Arg) c.1109A>G (p.Gln370Arg) n.883A>G n.786A>G c.228A>G n.639A>G c.1067A>G (p.Gln356Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102843721T>G | CA386493263 | PAH | c.1124A>C (p.Gln375Pro) c.1109A>C (p.Gln370Pro) n.883A>C n.786A>C c.228A>C n.639A>C c.1067A>C (p.Gln356Pro) | |
| 12 | g.102843721T= | CA2059446644 | PAH | c.1124A= (p.Gln375=) c.1109A= (p.Gln370=) n.883A= n.786A= c.228A= n.639A= c.1067A= (p.Gln356=) |