| 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.102844345_102844346delinsAC | CA2059448027 | PAH | c.1055_1056delinsGT (p.Gly352=) c.1040_1041delinsGT (p.Gly347=) n.814_815delinsGT n.717_718delinsGT c.159_160delinsGT n.570_571delinsGT c.998_999delinsGT (p.Gly333=) | |
| 12 | g.102844346C>A | CA386493396 | PAH | c.1055G>T (p.Gly352Val) c.1040G>T (p.Gly347Val) n.814G>T n.717G>T c.159G>T n.570G>T c.998G>T (p.Gly333Val) | |
| 12 | g.102844346C>G | CA386493395 | PAH | c.1055G>C (p.Gly352Ala) c.1040G>C (p.Gly347Ala) n.814G>C n.717G>C c.159G>C n.570G>C c.998G>C (p.Gly333Ala) | |
| 12 | g.102844346C>T | CA386493397 | PAH | c.1055G>A (p.Gly352Asp) c.1040G>A (p.Gly347Asp) n.814G>A n.717G>A c.159G>A n.570G>A c.998G>A (p.Gly333Asp) | |
| 12 | g.102844347del | CA229311 | PAH | c.1055del (p.Gly352ValfsTer?) c.1040del (p.Gly347ValfsTer?) n.814del n.717del c.159del n.570del c.998del (p.Gly333ValfsTer?) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 12 | g.102844347C>A | CA229309 | PAH | c.1054G>T (p.Gly352Cys) c.1039G>T (p.Gly347Cys) n.813G>T n.716G>T c.158G>T n.569G>T c.997G>T (p.Gly333Cys) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102844347C= | CA2059448042 | PAH | c.1054G= (p.Gly352=) c.1039G= (p.Gly347=) n.813G= n.716G= c.158G= n.569G= c.997G= (p.Gly333=) | |
| 12 | g.102844347C>G | CA229307 | PAH | c.1054G>C (p.Gly352Arg) c.1039G>C (p.Gly347Arg) n.813G>C n.716G>C c.158G>C n.569G>C c.997G>C (p.Gly333Arg) | ClinVar dbSNP |
| 12 | g.102844347C>T | CA386493398 | PAH | c.1054G>A (p.Gly352Ser) c.1039G>A (p.Gly347Ser) n.813G>A n.716G>A c.158G>A n.569G>A c.997G>A (p.Gly333Ser) | gnomAD v4 COSMIC |
| 12 | g.102844347_102844358delinsCAAAGGATGACA | CA2059448048 | PAH | c.1043_1054delinsTGTCATCCTTTG (p.Leu348=) c.1028_1039delinsTGTCATCCTTTG (p.Leu343=) n.802_813delinsTGTCATCCTTTG n.705_716delinsTGTCATCCTTTG c.147_158delinsTGTCATCCTTTG n.558_569delinsTGTCATCCTTTG c.986_997delinsTGTCATCCTTTG (p.Leu329=) | |
| 12 | g.102844348A>C | CA386493399 | PAH | c.1053T>G (p.Phe351Leu) c.1038T>G (p.Phe346Leu) n.812T>G n.715T>G c.157T>G n.568T>G c.996T>G (p.Phe332Leu) | |
| 12 | g.102844348A>G | CA481375741 | PAH | c.1053T>C (p.Phe351=) c.1038T>C (p.Phe346=) n.812T>C n.715T>C c.157T>C n.568T>C c.996T>C (p.Phe332=) | |
| 12 | g.102844348A>T | CA386493400 | PAH | c.1053T>A (p.Phe351Leu) c.1038T>A (p.Phe346Leu) n.812T>A n.715T>A c.157T>A n.568T>A c.996T>A (p.Phe332Leu) | |
| 12 | g.102844348_102844358del | CA229297 | PAH | c.1043_1053del (p.Leu348ArgfsTer2) c.1028_1038del (p.Leu343ArgfsTer2) n.802_812del n.705_715del c.147_157del n.558_568del c.986_996del (p.Leu329ArgfsTer2) | ClinVar dbSNP |
| 12 | g.102844349A>C | CA386493401 | PAH | c.1052T>G (p.Phe351Cys) c.1037T>G (p.Phe346Cys) n.811T>G n.714T>G c.156T>G n.567T>G c.995T>G (p.Phe332Cys) | |
| 12 | g.102844349A>G | CA386493402 | PAH | c.1052T>C (p.Phe351Ser) c.1037T>C (p.Phe346Ser) n.811T>C n.714T>C c.156T>C n.567T>C c.995T>C (p.Phe332Ser) | |
| 12 | g.102844349A>T | CA386493403 | PAH | c.1052T>A (p.Phe351Tyr) c.1037T>A (p.Phe346Tyr) n.811T>A n.714T>A c.156T>A n.567T>A c.995T>A (p.Phe332Tyr) | |
| 12 | g.102844350A>C | CA386493404 | PAH | c.1051T>G (p.Phe351Val) c.1036T>G (p.Phe346Val) n.810T>G n.713T>G c.155T>G n.566T>G c.994T>G (p.Phe332Val) | |
| 12 | g.102844350A>G | CA386493405 | PAH | c.1051T>C (p.Phe351Leu) c.1036T>C (p.Phe346Leu) n.810T>C n.713T>C c.155T>C n.566T>C c.994T>C (p.Phe332Leu) | gnomAD v4 |
| 12 | g.102844350A>T | CA386493406 | PAH | c.1051T>A (p.Phe351Ile) c.1036T>A (p.Phe346Ile) n.810T>A n.713T>A c.155T>A n.566T>A c.994T>A (p.Phe332Ile) | |
| 12 | g.102844351G>A | CA481375742 | PAH | c.1050C>T (p.Ser350=) c.1035C>T (p.Ser345=) n.809C>T n.712C>T c.154C>T n.565C>T c.993C>T (p.Ser331=) | COSMIC |
| 12 | g.102844351G>C | CA481375743 | PAH | c.1050C>G (p.Ser350=) c.1035C>G (p.Ser345=) n.809C>G n.712C>G c.154C>G n.565C>G c.993C>G (p.Ser331=) | ClinVar dbSNP |
| 12 | g.102844351G>T | CA481375744 | PAH | c.1050C>A (p.Ser350=) c.1035C>A (p.Ser345=) n.809C>A n.712C>A c.154C>A n.565C>A c.993C>A (p.Ser331=) | ClinVar |
| 12 | g.102844352G>A | CA386493407 | PAH | c.1049C>T (p.Ser350Phe) c.1034C>T (p.Ser345Phe) n.808C>T n.711C>T c.153C>T n.564C>T c.992C>T (p.Ser331Phe) | COSMIC |
| 12 | g.102844352G>C | CA386493408 | PAH | c.1049C>G (p.Ser350Cys) c.1034C>G (p.Ser345Cys) n.808C>G n.711C>G c.153C>G n.564C>G c.992C>G (p.Ser331Cys) | ClinVar |
| 12 | g.102844352G= | CA2059448060 | PAH | c.1049C= (p.Ser350=) c.1034C= (p.Ser345=) n.808C= n.711C= c.153C= n.564C= c.992C= (p.Ser331=) | |
| 12 | g.102844352G>T | CA229305 | PAH | c.1049C>A (p.Ser350Tyr) c.1034C>A (p.Ser345Tyr) n.808C>A n.711C>A c.153C>A n.564C>A c.992C>A (p.Ser331Tyr) | ClinVar dbSNP |
| 12 | g.102844353A= | CA2059448066 | PAH | c.1048T= (p.Ser350=) c.1033T= (p.Ser345=) n.807T= n.710T= c.152T= n.563T= c.991T= (p.Ser331=) | |
| 12 | g.102844353A>C | CA386493410 | PAH | c.1048T>G (p.Ser350Ala) c.1033T>G (p.Ser345Ala) n.807T>G n.710T>G c.152T>G n.563T>G c.991T>G (p.Ser331Ala) | |
| 12 | g.102844353A>G | CA386493409 | PAH | c.1048T>C (p.Ser350Pro) c.1033T>C (p.Ser345Pro) n.807T>C n.710T>C c.152T>C n.563T>C c.991T>C (p.Ser331Pro) | |
| 12 | g.102844353A>T | CA229304 | PAH | c.1048T>A (p.Ser350Thr) c.1033T>A (p.Ser345Thr) n.807T>A n.710T>A c.152T>A n.563T>A c.991T>A (p.Ser331Thr) | ClinVar dbSNP |
| 12 | g.102844354T>A | CA6748763 | PAH | c.1047A>T (p.Ser349=) c.1032A>T (p.Ser344=) n.806A>T n.709A>T c.151A>T n.562A>T c.990A>T (p.Ser330=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102844354T>C | CA481375745 | PAH | c.1047A>G (p.Ser349=) c.1032A>G (p.Ser344=) n.806A>G n.709A>G c.151A>G n.562A>G c.990A>G (p.Ser330=) | |
| 12 | g.102844354T>G | CA481375746 | PAH | c.1047A>C (p.Ser349=) c.1032A>C (p.Ser344=) n.806A>C n.709A>C c.151A>C n.562A>C c.990A>C (p.Ser330=) | |
| 12 | g.102844354T= | CA2059448077 | PAH | c.1047A= (p.Ser349=) c.1032A= (p.Ser344=) n.806A= n.709A= c.151A= n.562A= c.990A= (p.Ser330=) | |
| 12 | g.102844354_102844357dup | CA229303 | PAH | c.1044_1047dup (p.Ser350ValfsTer5) c.1029_1032dup (p.Ser345ValfsTer5) n.803_806dup n.706_709dup c.148_151dup n.559_562dup c.987_990dup (p.Ser331ValfsTer5) | ClinVar dbSNP |
| 12 | g.102844355G>A | CA229302 | PAH | c.1046C>T (p.Ser349Leu) c.1031C>T (p.Ser344Leu) n.805C>T n.708C>T c.150C>T n.561C>T c.989C>T (p.Ser330Leu) | ClinVar dbSNP |
| 12 | g.102844355G>C | CA386493411 | PAH | c.1046C>G (p.Ser349Ter) c.1031C>G (p.Ser344Ter) n.805C>G n.708C>G c.150C>G n.561C>G c.989C>G (p.Ser330Ter) | |
| 12 | g.102844355G= | CA2059448088 | PAH | c.1046C= (p.Ser349=) c.1031C= (p.Ser344=) n.805C= n.708C= c.150C= n.561C= c.989C= (p.Ser330=) | |
| 12 | g.102844355G>T | CA229300 | PAH | c.1046C>A (p.Ser349Ter) c.1031C>A (p.Ser344Ter) n.805C>A n.708C>A c.150C>A n.561C>A c.989C>A (p.Ser330Ter) | ClinVar dbSNP |
| 12 | g.102844355_102844356delinsCG | CA913187351 | PAH | c.1045_1046delinsCG (p.Ser349Arg) c.1030_1031delinsCG (p.Ser344Arg) n.804_805delinsCG n.707_708delinsCG c.149_150delinsCG n.560_561delinsCG c.988_989delinsCG (p.Ser330Arg) | |
| 12 | g.102844356A= | CA2059448099 | PAH | c.1045T= (p.Ser349=) c.1030T= (p.Ser344=) n.804T= n.707T= c.149T= n.560T= c.988T= (p.Ser330=) | |
| 12 | g.102844356A>C | CA229298 | PAH | c.1045T>G (p.Ser349Ala) c.1030T>G (p.Ser344Ala) n.804T>G n.707T>G c.149T>G n.560T>G c.988T>G (p.Ser330Ala) | ClinVar dbSNP |
| 12 | g.102844356A>G | CA251542 | PAH | c.1045T>C (p.Ser349Pro) c.1030T>C (p.Ser344Pro) n.804T>C n.707T>C c.149T>C n.560T>C c.988T>C (p.Ser330Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102844356A>T | CA386493412 | PAH | c.1045T>A (p.Ser349Thr) c.1030T>A (p.Ser344Thr) n.804T>A n.707T>A c.149T>A n.560T>A c.988T>A (p.Ser330Thr) | |
| 12 | g.102844357C>A | CA481375749 | PAH | c.1044G>T (p.Leu348=) c.1029G>T (p.Leu343=) n.803G>T n.706G>T c.148G>T n.559G>T c.987G>T (p.Leu329=) | |
| 12 | g.102844357C>G | CA481375750 | PAH | c.1044G>C (p.Leu348=) c.1029G>C (p.Leu343=) n.803G>C n.706G>C c.148G>C n.559G>C c.987G>C (p.Leu329=) | |
| 12 | g.102844357C>T | CA481375751 | PAH | c.1044G>A (p.Leu348=) c.1029G>A (p.Leu343=) n.803G>A n.706G>A c.148G>A n.559G>A c.987G>A (p.Leu329=) | gnomAD v4 |
| 12 | g.102844360_102844367del | CA2695217228 | PAH | c.1037_1044del (p.Gly346ValfsTer5) c.1022_1029del (p.Gly341ValfsTer5) n.796_803del n.699_706del c.141_148del n.552_559del c.980_987del (p.Gly327ValfsTer5) |