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.102843704C>A | CA386493232 | PAH | c.1141G>T (p.Glu381Ter) c.1126G>T (p.Glu376Ter) n.900G>T n.803G>T c.245G>T n.656G>T c.1084G>T (p.Glu362Ter) | |
| 12 | g.102843704C= | CA2059446567 | PAH | c.1141G= (p.Glu381=) c.1126G= (p.Glu376=) n.900G= n.803G= c.245G= n.656G= c.1084G= (p.Glu362=) | |
| 12 | g.102843704C>G | CA386493233 | PAH | c.1141G>C (p.Glu381Gln) c.1126G>C (p.Glu376Gln) n.900G>C n.803G>C c.245G>C n.656G>C c.1084G>C (p.Glu362Gln) | |
| 12 | g.102843704C>T | CA242744229 | PAH | c.1141G>A (p.Glu381Lys) c.1126G>A (p.Glu376Lys) n.900G>A n.803G>A c.245G>A n.656G>A c.1084G>A (p.Glu362Lys) | dbSNP COSMIC |
| 12 | g.102843705C>A | CA6748736 | PAH | c.1140G>T (p.Thr380=) c.1125G>T (p.Thr375=) n.899G>T n.802G>T c.244G>T n.655G>T c.1083G>T (p.Thr361=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102843705C= | CA2059446573 | PAH | c.1140G= (p.Thr380=) c.1125G= (p.Thr375=) n.899G= n.802G= c.244G= n.655G= c.1083G= (p.Thr361=) | |
| 12 | g.102843705C>G | CA481375637 | PAH | c.1140G>C (p.Thr380=) c.1125G>C (p.Thr375=) n.899G>C n.802G>C c.244G>C n.655G>C c.1083G>C (p.Thr361=) | |
| 12 | g.102843705C>T | CA6748735 | PAH | c.1140G>A (p.Thr380=) c.1125G>A (p.Thr375=) n.899G>A n.802G>A c.244G>A n.655G>A c.1083G>A (p.Thr361=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843706G>A | CA114369 | PAH | c.1139C>T (p.Thr380Met) c.1124C>T (p.Thr375Met) n.898C>T n.801C>T c.243C>T n.654C>T c.1082C>T (p.Thr361Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843706G>C | CA386493234 | PAH | c.1139C>G (p.Thr380Arg) c.1124C>G (p.Thr375Arg) n.898C>G n.801C>G c.243C>G n.654C>G c.1082C>G (p.Thr361Arg) | |
| 12 | g.102843706G= | CA2059446579 | PAH | c.1139C= (p.Thr380=) c.1124C= (p.Thr375=) n.898C= n.801C= c.243C= n.654C= c.1082C= (p.Thr361=) | |
| 12 | g.102843706G>T | CA386493235 | PAH | c.1139C>A (p.Thr380Lys) c.1124C>A (p.Thr375Lys) n.898C>A n.801C>A c.243C>A n.654C>A c.1082C>A (p.Thr361Lys) | |
| 12 | g.102843707_102843708del | CA16020947 | PAH | c.1138_1139del (p.Thr380GlyfsTer13) c.1123_1124del (p.Thr375GlyfsTer13) n.897_898del n.800_801del c.242_243del n.653_654del c.1081_1082del (p.Thr361GlyfsTer13) | |
| 12 | g.102843707del | CA2695217225 | PAH | c.1138del (p.Thr380ArgfsTer20) c.1123del (p.Thr375ArgfsTer20) n.897del n.800del c.242del n.653del c.1081del (p.Thr361ArgfsTer20) | |
| 12 | g.102843707T>A | CA386493236 | PAH | c.1138A>T (p.Thr380Ser) c.1123A>T (p.Thr375Ser) n.897A>T n.800A>T c.242A>T n.653A>T c.1081A>T (p.Thr361Ser) | |
| 12 | g.102843707T>C | CA386493237 | PAH | c.1138A>G (p.Thr380Ala) c.1123A>G (p.Thr375Ala) n.897A>G n.800A>G c.242A>G n.653A>G c.1081A>G (p.Thr361Ala) | |
| 12 | g.102843707T>G | CA386493238 | PAH | c.1138A>C (p.Thr380Pro) c.1123A>C (p.Thr375Pro) n.897A>C n.800A>C c.242A>C n.653A>C c.1081A>C (p.Thr361Pro) | |
| 12 | g.102843708G>A | CA481375638 | PAH | c.1137C>T (p.Val379=) c.1122C>T (p.Val374=) n.896C>T n.799C>T c.241C>T n.652C>T c.1080C>T (p.Val360=) | gnomAD v4 |
| 12 | g.102843708G>C | CA6748737 | PAH | c.1137C>G (p.Val379=) c.1122C>G (p.Val374=) n.896C>G n.799C>G c.241C>G n.652C>G c.1080C>G (p.Val360=) | dbSNP ExAC gnomAD v2 |
| 12 | g.102843708G= | CA2059446587 | PAH | c.1137C= (p.Val379=) c.1122C= (p.Val374=) n.896C= n.799C= c.241C= n.652C= c.1080C= (p.Val360=) | |
| 12 | g.102843708G>T | CA481375639 | PAH | c.1137C>A (p.Val379=) c.1122C>A (p.Val374=) n.896C>A n.799C>A c.241C>A n.652C>A c.1080C>A (p.Val360=) | |
| 12 | g.102843709A= | CA2059446591 | PAH | c.1136T= (p.Val379=) c.1121T= (p.Val374=) n.895T= n.798T= c.240T= n.651T= c.1079T= (p.Val360=) | |
| 12 | g.102843709A>C | CA386493240 | PAH | c.1136T>G (p.Val379Gly) c.1121T>G (p.Val374Gly) n.895T>G n.798T>G c.240T>G n.651T>G c.1079T>G (p.Val360Gly) | |
| 12 | g.102843709A>G | CA6748738 | PAH | c.1136T>C (p.Val379Ala) c.1121T>C (p.Val374Ala) n.895T>C n.798T>C c.240T>C n.651T>C c.1079T>C (p.Val360Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102843709A>T | CA386493239 | PAH | c.1136T>A (p.Val379Asp) c.1121T>A (p.Val374Asp) n.895T>A n.798T>A c.240T>A n.651T>A c.1079T>A (p.Val360Asp) | |
| 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=) |