| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102843549_102843732dup | CA3265460482 | PAH | c.1113_1199+97dup c.1098_1184+97dup n.872_958+97dup n.775_861+97dup c.217_303+97dup n.628_714+97dup c.1056_1142+97dup | |
| 12 | g.102843677_102843678del | CA16020956 | PAH | c.1171_1172del (p.Ser391PhefsTer2) c.1156_1157del (p.Ser386PhefsTer2) n.930_931del n.833_834del c.275_276del n.686_687del c.1114_1115del (p.Ser372PhefsTer2) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843678T>A | CA481375623 | PAH | c.1167A>T (p.Ala389=) c.1152A>T (p.Ala384=) n.926A>T n.829A>T c.271A>T n.682A>T c.1110A>T (p.Ala370=) | |
| 12 | g.102843678T>C | CA481375624 | PAH | c.1167A>G (p.Ala389=) c.1152A>G (p.Ala384=) n.926A>G n.829A>G c.271A>G n.682A>G c.1110A>G (p.Ala370=) | ClinVar dbSNP |
| 12 | g.102843678T>G | CA481375625 | PAH | c.1167A>C (p.Ala389=) c.1152A>C (p.Ala384=) n.926A>C n.829A>C c.271A>C n.682A>C c.1110A>C (p.Ala370=) | |
| 12 | g.102843678T= | CA3194748088 | PAH | c.1167A= (p.Ala389=) c.1152A= (p.Ala384=) n.926A= n.829A= c.271A= n.682A= c.1110A= (p.Ala370=) | dbSNP |
| 12 | g.102843678_102843679delinsTG | CA2059446440 | PAH | c.1166_1167delinsCA (p.Ala389=) c.1151_1152delinsCA (p.Ala384=) n.925_926delinsCA n.828_829delinsCA c.270_271delinsCA n.681_682delinsCA c.1109_1110delinsCA (p.Ala370=) | |
| 12 | g.102843679_102843688del | CA3054215012 | PAH | c.1158_1167del (p.Tyr386Ter) c.1143_1152del (p.Tyr381Ter) n.917_926del n.820_829del c.262_271del n.673_682del c.1101_1110del (p.Tyr367Ter) | ClinVar |
| 12 | g.102843679del | CA229368 | PAH | c.1166del (p.Ala389GlufsTer11) c.1151del (p.Ala384GlufsTer11) n.925del n.828del c.270del n.681del c.1109del (p.Ala370GlufsTer11) | ClinVar dbSNP |
| 12 | g.102843679G>A | CA386493186 | PAH | c.1166C>T (p.Ala389Val) c.1151C>T (p.Ala384Val) n.925C>T n.828C>T c.270C>T n.681C>T c.1109C>T (p.Ala370Val) | |
| 12 | g.102843679G>C | CA16020955 | PAH | c.1166C>G (p.Ala389Gly) c.1151C>G (p.Ala384Gly) n.925C>G n.828C>G c.270C>G n.681C>G c.1109C>G (p.Ala370Gly) | ClinVar dbSNP |
| 12 | g.102843679G= | CA2059446447 | PAH | c.1166C= (p.Ala389=) c.1151C= (p.Ala384=) n.925C= n.828C= c.270C= n.681C= c.1109C= (p.Ala370=) | dbSNP dbSNP |
| 12 | g.102843679G>T | CA16020954 | PAH | c.1166C>A (p.Ala389Glu) c.1151C>A (p.Ala384Glu) n.925C>A n.828C>A c.270C>A n.681C>A c.1109C>A (p.Ala370Glu) | ClinVar dbSNP |
| 12 | g.102843680C>A | CA386493187 | PAH | c.1165G>T (p.Ala389Ser) c.1150G>T (p.Ala384Ser) n.924G>T n.827G>T c.269G>T n.680G>T c.1108G>T (p.Ala370Ser) | |
| 12 | g.102843680C= | CA3197744152 | PAH | c.1165G= (p.Ala389=) c.1150G= (p.Ala384=) n.924G= n.827G= c.269G= n.680G= c.1108G= (p.Ala370=) | dbSNP |
| 12 | g.102843680C>G | CA386493188 | PAH | c.1165G>C (p.Ala389Pro) c.1150G>C (p.Ala384Pro) n.924G>C n.827G>C c.269G>C n.680G>C c.1108G>C (p.Ala370Pro) | |
| 12 | g.102843680C>T | CA386493189 | PAH | c.1165G>A (p.Ala389Thr) c.1150G>A (p.Ala384Thr) n.924G>A n.827G>A c.269G>A n.680G>A c.1108G>A (p.Ala370Thr) | dbSNP gnomAD v4 |
| 12 | g.102843681dup | CA2843248088 | PAH | c.1165dup (p.Ala389GlyfsTer5) c.1150dup (p.Ala384GlyfsTer5) n.924dup n.827dup c.269dup n.680dup c.1108dup (p.Ala370GlyfsTer5) | |
| 12 | g.102843680_102843682delinsCCA | CA2059446455 | PAH | c.1163_1165delinsTGG (p.Val388=) c.1148_1150delinsTGG (p.Val383=) n.922_924delinsTGG n.825_827delinsTGG c.267_269delinsTGG n.678_680delinsTGG c.1106_1108delinsTGG (p.Val369=) | |
| 12 | g.102843681C>A | CA481375627 | PAH | c.1164G>T (p.Val388=) c.1149G>T (p.Val383=) n.923G>T n.826G>T c.268G>T n.679G>T c.1107G>T (p.Val369=) | |
| 12 | g.102843681C= | CA3197744156 | PAH | c.1164G= (p.Val388=) c.1149G= (p.Val383=) n.923G= n.826G= c.268G= n.679G= c.1107G= (p.Val369=) | dbSNP |
| 12 | g.102843681C>G | CA481375628 | PAH | c.1164G>C (p.Val388=) c.1149G>C (p.Val383=) n.923G>C n.826G>C c.268G>C n.679G>C c.1107G>C (p.Val369=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843681C>T | CA481375629 | PAH | c.1164G>A (p.Val388=) c.1149G>A (p.Val383=) n.923G>A n.826G>A c.268G>A n.679G>A c.1107G>A (p.Val369=) | COSMIC |
| 12 | g.102843682_102843683del | CA229367 | PAH | c.1163_1164del (p.Val388GlyfsTer5) c.1148_1149del (p.Val383GlyfsTer5) n.922_923del n.825_826del c.267_268del n.678_679del c.1106_1107del (p.Val369GlyfsTer5) | ClinVar dbSNP |
| 12 | g.102843682A= | CA2059446462 | PAH | c.1163T= (p.Val388=) c.1148T= (p.Val383=) n.922T= n.825T= c.267T= n.678T= c.1106T= (p.Val369=) | dbSNP |
| 12 | g.102843682A>C | CA386493190 | PAH | c.1163T>G (p.Val388Gly) c.1148T>G (p.Val383Gly) n.922T>G n.825T>G c.267T>G n.678T>G c.1106T>G (p.Val369Gly) | |
| 12 | g.102843682A>G | CA267628 | PAH | c.1163T>C (p.Val388Ala) c.1148T>C (p.Val383Ala) n.922T>C n.825T>C c.267T>C n.678T>C c.1106T>C (p.Val369Ala) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843682A>T | CA386493191 | PAH | c.1163T>A (p.Val388Glu) c.1148T>A (p.Val383Glu) n.922T>A n.825T>A c.267T>A n.678T>A c.1106T>A (p.Val369Glu) | dbSNP |
| 12 | g.102843683C>A | CA386493192 | PAH | c.1162G>T (p.Val388Leu) c.1147G>T (p.Val383Leu) n.921G>T n.824G>T c.266G>T n.677G>T c.1105G>T (p.Val369Leu) | |
| 12 | g.102843683C= | CA2059446474 | PAH | c.1162G= (p.Val388=) c.1147G= (p.Val383=) n.921G= n.824G= c.266G= n.677G= c.1105G= (p.Val369=) | dbSNP |
| 12 | g.102843683C>G | CA229366 | PAH | c.1162G>C (p.Val388Leu) c.1147G>C (p.Val383Leu) n.921G>C n.824G>C c.266G>C n.677G>C c.1105G>C (p.Val369Leu) | ClinVar dbSNP |
| 12 | g.102843683C>T | CA251543 | PAH | c.1162G>A (p.Val388Met) c.1147G>A (p.Val383Met) n.921G>A n.824G>A c.266G>A n.677G>A c.1105G>A (p.Val369Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843684G>A | CA6748733 | PAH | c.1161C>T (p.Tyr387=) c.1146C>T (p.Tyr382=) n.920C>T n.823C>T c.265C>T n.676C>T c.1104C>T (p.Tyr368=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843684G>C | CA386493193 | PAH | c.1161C>G (p.Tyr387Ter) c.1146C>G (p.Tyr382Ter) n.920C>G n.823C>G c.265C>G n.676C>G c.1104C>G (p.Tyr368Ter) | ClinVar dbSNP |
| 12 | g.102843684G= | CA2059446488 | PAH | c.1161C= (p.Tyr387=) c.1146C= (p.Tyr382=) n.920C= n.823C= c.265C= n.676C= c.1104C= (p.Tyr368=) | dbSNP |
| 12 | g.102843684G>T | CA16020953 | PAH | c.1161C>A (p.Tyr387Ter) c.1146C>A (p.Tyr382Ter) n.920C>A n.823C>A c.265C>A n.676C>A c.1104C>A (p.Tyr368Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843685T>A | CA386493196 | PAH | c.1160A>T (p.Tyr387Phe) c.1145A>T (p.Tyr382Phe) n.919A>T n.822A>T c.264A>T n.675A>T c.1103A>T (p.Tyr368Phe) | |
| 12 | g.102843685T>C | CA386493194 | PAH | c.1160A>G (p.Tyr387Cys) c.1145A>G (p.Tyr382Cys) n.919A>G n.822A>G c.264A>G n.675A>G c.1103A>G (p.Tyr368Cys) | |
| 12 | g.102843685T>G | CA386493195 | PAH | c.1160A>C (p.Tyr387Ser) c.1145A>C (p.Tyr382Ser) n.919A>C n.822A>C c.264A>C n.675A>C c.1103A>C (p.Tyr368Ser) | |
| 12 | g.102843686A= | CA2059446498 | PAH | c.1159T= (p.Tyr387=) c.1144T= (p.Tyr382=) n.918T= n.821T= c.263T= n.674T= c.1102T= (p.Tyr368=) | dbSNP |
| 12 | g.102843686A>C | CA16020952 | PAH | c.1159T>G (p.Tyr387Asp) c.1144T>G (p.Tyr382Asp) n.918T>G n.821T>G c.263T>G n.674T>G c.1102T>G (p.Tyr368Asp) | ClinVar dbSNP |
| 12 | g.102843686A>G | CA229363 | PAH | c.1159T>C (p.Tyr387His) c.1144T>C (p.Tyr382His) n.918T>C n.821T>C c.263T>C n.674T>C c.1102T>C (p.Tyr368His) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843686A>T | CA386493197 | PAH | c.1159T>A (p.Tyr387Asn) c.1144T>A (p.Tyr382Asn) n.918T>A n.821T>A c.263T>A n.674T>A c.1102T>A (p.Tyr368Asn) | |
| 12 | g.102843687A= | CA3194748095 | PAH | c.1158T= (p.Tyr386=) c.1143T= (p.Tyr381=) n.917T= n.820T= c.262T= n.673T= c.1101T= (p.Tyr367=) | dbSNP |
| 12 | g.102843687A>C | CA386493198 | PAH | c.1158T>G (p.Tyr386Ter) c.1143T>G (p.Tyr381Ter) n.917T>G n.820T>G c.262T>G n.673T>G c.1101T>G (p.Tyr367Ter) | |
| 12 | g.102843687A>G | CA481375630 | PAH | c.1158T>C (p.Tyr386=) c.1143T>C (p.Tyr381=) n.917T>C n.820T>C c.262T>C n.673T>C c.1101T>C (p.Tyr367=) | ClinVar dbSNP |
| 12 | g.102843687A>T | CA386493199 | PAH | c.1158T>A (p.Tyr386Ter) c.1143T>A (p.Tyr381Ter) n.917T>A n.820T>A c.262T>A n.673T>A c.1101T>A (p.Tyr367Ter) | |
| 12 | g.102843688del | CA2695217224 | PAH | c.1157del (p.Tyr386PhefsTer14) c.1142del (p.Tyr381PhefsTer14) n.916del n.819del c.261del n.672del c.1100del (p.Tyr367PhefsTer14) | |
| 12 | g.102843688T>A | CA386493201 | PAH | c.1157A>T (p.Tyr386Phe) c.1142A>T (p.Tyr381Phe) n.916A>T n.819A>T c.261A>T n.672A>T c.1100A>T (p.Tyr367Phe) | dbSNP |
| 12 | g.102843688T>C | CA274152 | PAH | c.1157A>G (p.Tyr386Cys) c.1142A>G (p.Tyr381Cys) n.916A>G n.819A>G c.261A>G n.672A>G c.1100A>G (p.Tyr367Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |