| 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.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.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) | |
| 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 |
| 12 | g.102843762C>A | CA386493334 | PAH | c.1083G>T (p.Lys361Asn) c.1068G>T (p.Lys356Asn) n.842G>T n.745G>T c.187G>T n.598G>T c.1026G>T (p.Lys342Asn) | |
| 12 | g.102843762C= | CA2059446822 | PAH | c.1083G= (p.Lys361=) c.1068G= (p.Lys356=) n.842G= n.745G= c.187G= n.598G= c.1026G= (p.Lys342=) | |
| 12 | g.102843762C>G | CA386493335 | PAH | c.1083G>C (p.Lys361Asn) c.1068G>C (p.Lys356Asn) n.842G>C n.745G>C c.187G>C n.598G>C c.1026G>C (p.Lys342Asn) | |
| 12 | g.102843762C>T | CA481375683 | PAH | c.1083G>A (p.Lys361=) c.1068G>A (p.Lys356=) n.842G>A n.745G>A c.187G>A n.598G>A c.1026G>A (p.Lys342=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843763T>A | CA386493336 | PAH | c.1082A>T (p.Lys361Met) c.1067A>T (p.Lys356Met) n.841A>T n.744A>T c.186A>T n.597A>T c.1025A>T (p.Lys342Met) | |
| 12 | g.102843763T>C | CA386493338 | PAH | c.1082A>G (p.Lys361Arg) c.1067A>G (p.Lys356Arg) n.841A>G n.744A>G c.186A>G n.597A>G c.1025A>G (p.Lys342Arg) | |
| 12 | g.102843763T>G | CA386493337 | PAH | c.1082A>C (p.Lys361Thr) c.1067A>C (p.Lys356Thr) n.841A>C n.744A>C c.186A>C n.597A>C c.1025A>C (p.Lys342Thr) | |
| 12 | g.102843764T>A | CA6748746 | PAH | c.1081A>T (p.Lys361Ter) c.1066A>T (p.Lys356Ter) n.840A>T n.743A>T c.185A>T n.596A>T c.1024A>T (p.Lys342Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843764T>C | CA386493339 | PAH | c.1081A>G (p.Lys361Glu) c.1066A>G (p.Lys356Glu) n.840A>G n.743A>G c.185A>G n.596A>G c.1024A>G (p.Lys342Glu) | |
| 12 | g.102843764T>G | CA16020936 | PAH | c.1081A>C (p.Lys361Gln) c.1066A>C (p.Lys356Gln) n.840A>C n.743A>C c.185A>C n.596A>C c.1024A>C (p.Lys342Gln) | ClinVar dbSNP |
| 12 | g.102843764T= | CA2059446829 | PAH | c.1081A= (p.Lys361=) c.1066A= (p.Lys356=) n.840A= n.743A= c.185A= n.596A= c.1024A= (p.Lys342=) | |
| 12 | g.102843765C>A | CA386493340 | PAH | c.1080G>T (p.Glu360Asp) c.1065G>T (p.Glu355Asp) n.839G>T n.742G>T c.184G>T n.595G>T c.1023G>T (p.Glu341Asp) | |
| 12 | g.102843765C= | CA2059446836 | PAH | c.1080G= (p.Glu360=) c.1065G= (p.Glu355=) n.839G= n.742G= c.184G= n.595G= c.1023G= (p.Glu341=) | |
| 12 | g.102843765C>G | CA386493341 | PAH | c.1080G>C (p.Glu360Asp) c.1065G>C (p.Glu355Asp) n.839G>C n.742G>C c.184G>C n.595G>C c.1023G>C (p.Glu341Asp) | |
| 12 | g.102843765C>T | CA481375684 | PAH | c.1080G>A (p.Glu360=) c.1065G>A (p.Glu355=) n.839G>A n.742G>A c.184G>A n.595G>A c.1023G>A (p.Glu341=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.102843766T>A | CA386493342 | PAH | c.1079A>T (p.Glu360Val) c.1064A>T (p.Glu355Val) n.838A>T n.741A>T c.183A>T n.594A>T c.1022A>T (p.Glu341Val) | |
| 12 | g.102843766T>C | CA386493344 | PAH | c.1079A>G (p.Glu360Gly) c.1064A>G (p.Glu355Gly) n.838A>G n.741A>G c.183A>G n.594A>G c.1022A>G (p.Glu341Gly) | |
| 12 | g.102843766T>G | CA386493343 | PAH | c.1079A>C (p.Glu360Ala) c.1064A>C (p.Glu355Ala) n.838A>C n.741A>C c.183A>C n.594A>C c.1022A>C (p.Glu341Ala) | |
| 12 | g.102843767C>A | CA16020935 | PAH | c.1078G>T (p.Glu360Ter) c.1063G>T (p.Glu355Ter) n.837G>T n.740G>T c.182G>T n.593G>T c.1021G>T (p.Glu341Ter) | ClinVar dbSNP |
| 12 | g.102843767C>G | CA386493346 | PAH | c.1078G>C (p.Glu360Gln) c.1063G>C (p.Glu355Gln) n.837G>C n.740G>C c.182G>C n.593G>C c.1021G>C (p.Glu341Gln) | |
| 12 | g.102843767C>T | CA386493345 | PAH | c.1078G>A (p.Glu360Lys) c.1063G>A (p.Glu355Lys) n.837G>A n.740G>A c.182G>A n.593G>A c.1021G>A (p.Glu341Lys) | COSMIC |