| 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.102843738_102843753delinsCAGCTCCAGGGGGAGA | CA2059446690 | PAH | c.1092_1107delinsTCTCCCCCTGGAGCTG (p.Leu364=) c.1077_1092delinsTCTCCCCCTGGAGCTG (p.Leu359=) n.851_866delinsTCTCCCCCTGGAGCTG n.754_769delinsTCTCCCCCTGGAGCTG c.196_211delinsTCTCCCCCTGGAGCTG n.607_622delinsTCTCCCCCTGGAGCTG c.1035_1050delinsTCTCCCCCTGGAGCTG (p.Leu345=) | |
| 12 | g.102843743_102843757del | CA229339 | PAH | c.1092_1106del (p.Leu365_Leu369del) c.1077_1091del (p.Leu360_Leu364del) n.851_865del n.754_768del c.196_210del n.607_621del c.1035_1049del (p.Leu346_Leu350del) | ClinVar dbSNP |
| 12 | g.102843774_102843775insAGGGGAGAAGCTTTGGCTTCTCTGATAAG | CA915946685 | PAH | c.1098_1099insTCTTATCAGAGAAGCCAAAGCTTCTCCCC (p.Leu367SerfsTer?) c.1083_1084insTCTTATCAGAGAAGCCAAAGCTTCTCCCC (p.Leu362SerfsTer?) n.857_858insTCTTATCAGAGAAGCCAAAGCTTCTCCCC n.760_761insTCTTATCAGAGAAGCCAAAGCTTCTCCCC c.202_203insTCTTATCAGAGAAGCCAAAGCTTCTCCCC n.613_614insTCTTATCAGAGAAGCCAAAGCTTCTCCCC c.1041_1042insTCTTATCAGAGAAGCCAAAGCTTCTCCCC (p.Leu348SerfsTer?) | ClinVar dbSNP |
| 12 | g.102843750_102843753delinsGAGA | CA2059446757 | PAH | c.1092_1095delinsTCTC (p.Leu364=) c.1077_1080delinsTCTC (p.Leu359=) n.851_854delinsTCTC n.754_757delinsTCTC c.196_199delinsTCTC n.607_610delinsTCTC c.1035_1038delinsTCTC (p.Leu345=) | |
| 12 | g.102843751A>C | CA386493313 | PAH | c.1094T>G (p.Leu365Arg) c.1079T>G (p.Leu360Arg) n.853T>G n.756T>G c.198T>G n.609T>G c.1037T>G (p.Leu346Arg) | |
| 12 | g.102843751A>G | CA386493314 | PAH | c.1094T>C (p.Leu365Pro) c.1079T>C (p.Leu360Pro) n.853T>C n.756T>C c.198T>C n.609T>C c.1037T>C (p.Leu346Pro) | COSMIC |
| 12 | g.102843751A>T | CA386493315 | PAH | c.1094T>A (p.Leu365His) c.1079T>A (p.Leu360His) n.853T>A n.756T>A c.198T>A n.609T>A c.1037T>A (p.Leu346His) | |
| 12 | g.102843753_102843755del | CA229337 | PAH | c.1092_1094del (p.Leu365del) c.1077_1079del (p.Leu360del) n.851_853del n.754_756del c.196_198del n.607_609del c.1035_1037del (p.Leu346del) | ClinVar dbSNP |
| 12 | g.102843752G>A | CA242744261 | PAH | c.1093C>T (p.Leu365Phe) c.1078C>T (p.Leu360Phe) n.852C>T n.755C>T c.197C>T n.608C>T c.1036C>T (p.Leu346Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102843752G>C | CA386493316 | PAH | c.1093C>G (p.Leu365Val) c.1078C>G (p.Leu360Val) n.852C>G n.755C>G c.197C>G n.608C>G c.1036C>G (p.Leu346Val) | |
| 12 | g.102843752G= | CA2059446765 | PAH | c.1093C= (p.Leu365=) c.1078C= (p.Leu360=) n.852C= n.755C= c.197C= n.608C= c.1036C= (p.Leu346=) | |
| 12 | g.102843752G>T | CA386493317 | PAH | c.1093C>A (p.Leu365Ile) c.1078C>A (p.Leu360Ile) n.852C>A n.755C>A c.197C>A n.608C>A c.1036C>A (p.Leu346Ile) | |
| 12 | g.102843753A= | CA2059446769 | PAH | c.1092T= (p.Leu364=) c.1077T= (p.Leu359=) n.851T= n.754T= c.196T= n.607T= c.1035T= (p.Leu345=) | |
| 12 | g.102843753A>C | CA481375676 | PAH | c.1092T>G (p.Leu364=) c.1077T>G (p.Leu359=) n.851T>G n.754T>G c.196T>G n.607T>G c.1035T>G (p.Leu345=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102843753A>G | CA481375677 | PAH | c.1092T>C (p.Leu364=) c.1077T>C (p.Leu359=) n.851T>C n.754T>C c.196T>C n.607T>C c.1035T>C (p.Leu345=) | |
| 12 | g.102843753A>T | CA481375678 | PAH | c.1092T>A (p.Leu364=) c.1077T>A (p.Leu359=) n.851T>A n.754T>A c.196T>A n.607T>A c.1035T>A (p.Leu345=) | |
| 12 | g.102843754A>C | CA386493319 | PAH | c.1091T>G (p.Leu364Arg) c.1076T>G (p.Leu359Arg) n.850T>G n.753T>G c.195T>G n.606T>G c.1034T>G (p.Leu345Arg) | |
| 12 | g.102843754A>G | CA386493320 | PAH | c.1091T>C (p.Leu364Pro) c.1076T>C (p.Leu359Pro) n.850T>C n.753T>C c.195T>C n.606T>C c.1034T>C (p.Leu345Pro) | |
| 12 | g.102843754A>T | CA386493318 | PAH | c.1091T>A (p.Leu364His) c.1076T>A (p.Leu359His) n.850T>A n.753T>A c.195T>A n.606T>A c.1034T>A (p.Leu345His) | |
| 12 | g.102843755G>A | CA386493321 | PAH | c.1090C>T (p.Leu364Phe) c.1075C>T (p.Leu359Phe) n.849C>T n.752C>T c.194C>T n.605C>T c.1033C>T (p.Leu345Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102843755G>C | CA386493322 | PAH | c.1090C>G (p.Leu364Val) c.1075C>G (p.Leu359Val) n.849C>G n.752C>G c.194C>G n.605C>G c.1033C>G (p.Leu345Val) | |
| 12 | g.102843755G= | CA2059446775 | PAH | c.1090C= (p.Leu364=) c.1075C= (p.Leu359=) n.849C= n.752C= c.194C= n.605C= c.1033C= (p.Leu345=) | |
| 12 | g.102843755G>T | CA386493323 | PAH | c.1090C>A (p.Leu364Ile) c.1075C>A (p.Leu359Ile) n.849C>A n.752C>A c.194C>A n.605C>A c.1033C>A (p.Leu345Ile) | |
| 12 | g.102843755_102843756delinsGC | CA2059446772 | PAH | c.1089_1090delinsGC (p.Lys363=) c.1074_1075delinsGC (p.Lys358=) n.848_849delinsGC n.751_752delinsGC c.193_194delinsGC n.604_605delinsGC c.1032_1033delinsGC (p.Lys344=) | |
| 12 | g.102843756del | CA229336 | PAH | c.1089del (p.Lys363AsnfsTer?) c.1074del (p.Lys358AsnfsTer?) n.848del n.751del c.193del n.604del c.1032del (p.Lys344AsnfsTer?) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843756C>A | CA229334 | PAH | c.1089G>T (p.Lys363Asn) c.1074G>T (p.Lys358Asn) n.848G>T n.751G>T c.193G>T n.604G>T c.1032G>T (p.Lys344Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102843756C= | CA2059446786 | PAH | c.1089G= (p.Lys363=) c.1074G= (p.Lys358=) n.848G= n.751G= c.193G= n.604G= c.1032G= (p.Lys344=) | |
| 12 | g.102843756C>G | CA386493324 | PAH | c.1089G>C (p.Lys363Asn) c.1074G>C (p.Lys358Asn) n.848G>C n.751G>C c.193G>C n.604G>C c.1032G>C (p.Lys344Asn) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843756C>T | CA481375679 | PAH | c.1089G>A (p.Lys363=) c.1074G>A (p.Lys358=) n.848G>A n.751G>A c.193G>A n.604G>A c.1032G>A (p.Lys344=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102843756_102843758delinsCTT | CA2059446785 | PAH | c.1087_1089delinsAAG (p.Lys363=) c.1072_1074delinsAAG (p.Lys358=) n.846_848delinsAAG n.749_751delinsAAG c.191_193delinsAAG n.602_604delinsAAG c.1030_1032delinsAAG (p.Lys344=) | |
| 12 | g.102843757T>A | CA386493325 | PAH | c.1088A>T (p.Lys363Met) c.1073A>T (p.Lys358Met) n.847A>T n.750A>T c.192A>T n.603A>T c.1031A>T (p.Lys344Met) | |
| 12 | g.102843757T>C | CA386493327 | PAH | c.1088A>G (p.Lys363Arg) c.1073A>G (p.Lys358Arg) n.847A>G n.750A>G c.192A>G n.603A>G c.1031A>G (p.Lys344Arg) | |
| 12 | g.102843757T>G | CA386493326 | PAH | c.1088A>C (p.Lys363Thr) c.1073A>C (p.Lys358Thr) n.847A>C n.750A>C c.192A>C n.603A>C c.1031A>C (p.Lys344Thr) | |
| 12 | g.102843759del | CA2575266860 | PAH | c.1088del (p.Lys363SerfsTer?) c.1073del (p.Lys358SerfsTer?) n.847del n.750del c.192del n.603del c.1031del (p.Lys344SerfsTer?) | |
| 12 | g.102843758_102843759del | CA229333 | PAH | c.1087_1088del (p.Lys363AlafsTer30) c.1072_1073del (p.Lys358AlafsTer30) n.846_847del n.749_750del c.191_192del n.602_603del c.1030_1031del (p.Lys344AlafsTer30) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843758T>A | CA386493328 | PAH | c.1087A>T (p.Lys363Ter) c.1072A>T (p.Lys358Ter) n.846A>T n.749A>T c.191A>T n.602A>T c.1030A>T (p.Lys344Ter) | ClinVar |
| 12 | g.102843758T>C | CA386493329 | PAH | c.1087A>G (p.Lys363Glu) c.1072A>G (p.Lys358Glu) n.846A>G n.749A>G c.191A>G n.602A>G c.1030A>G (p.Lys344Glu) | |
| 12 | g.102843758T>G | CA386493330 | PAH | c.1087A>C (p.Lys363Gln) c.1072A>C (p.Lys358Gln) n.846A>C n.749A>C c.191A>C n.602A>C c.1030A>C (p.Lys344Gln) | |
| 12 | g.102843759T>A | CA481375680 | PAH | c.1086A>T (p.Pro362=) c.1071A>T (p.Pro357=) n.845A>T n.748A>T c.190A>T n.601A>T c.1029A>T (p.Pro343=) | |
| 12 | g.102843759T>C | CA481375681 | PAH | c.1086A>G (p.Pro362=) c.1071A>G (p.Pro357=) n.845A>G n.748A>G c.190A>G n.601A>G c.1029A>G (p.Pro343=) | |
| 12 | g.102843759T>G | CA481375682 | PAH | c.1086A>C (p.Pro362=) c.1071A>C (p.Pro357=) n.845A>C n.748A>C c.190A>C n.601A>C c.1029A>C (p.Pro343=) | |
| 12 | g.102843760G>A | CA16020937 | PAH | c.1085C>T (p.Pro362Leu) c.1070C>T (p.Pro357Leu) n.844C>T n.747C>T c.189C>T n.600C>T c.1028C>T (p.Pro343Leu) | ClinVar |
| 12 | g.102843760G>C | CA386493332 | PAH | c.1085C>G (p.Pro362Arg) c.1070C>G (p.Pro357Arg) n.844C>G n.747C>G c.189C>G n.600C>G c.1028C>G (p.Pro343Arg) | ClinVar dbSNP |
| 12 | g.102843760G= | CA2059446804 | PAH | c.1085C= (p.Pro362=) c.1070C= (p.Pro357=) n.844C= n.747C= c.189C= n.600C= c.1028C= (p.Pro343=) | |
| 12 | g.102843760G>T | CA386493331 | PAH | c.1085C>A (p.Pro362Gln) c.1070C>A (p.Pro357Gln) n.844C>A n.747C>A c.189C>A n.600C>A c.1028C>A (p.Pro343Gln) | |
| 12 | g.102843761G>A | CA6748745 | PAH | c.1084C>T (p.Pro362Ser) c.1069C>T (p.Pro357Ser) n.843C>T n.746C>T c.188C>T n.599C>T c.1027C>T (p.Pro343Ser) | ClinVar dbSNP ExAC gnomAD v2 |
| 12 | g.102843761G>C | CA386493333 | PAH | c.1084C>G (p.Pro362Ala) c.1069C>G (p.Pro357Ala) n.843C>G n.746C>G c.188C>G n.599C>G c.1027C>G (p.Pro343Ala) | |
| 12 | g.102843761G= | CA2059446815 | PAH | c.1084C= (p.Pro362=) c.1069C= (p.Pro357=) n.843C= n.746C= c.188C= n.599C= c.1027C= (p.Pro343=) | |
| 12 | g.102843761G>T | CA229332 | PAH | c.1084C>A (p.Pro362Thr) c.1069C>A (p.Pro357Thr) n.843C>A n.746C>A c.188C>A n.599C>A c.1027C>A (p.Pro343Thr) | ClinVar dbSNP |