SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.
| 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.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) | |
| 12 | g.102844358A= | CA2059448111 | PAH | c.1043T= (p.Leu348=) c.1028T= (p.Leu343=) n.802T= n.705T= c.147T= n.558T= c.986T= (p.Leu329=) | |
| 12 | g.102844358A>C | CA386493413 | PAH | c.1043T>G (p.Leu348Arg) c.1028T>G (p.Leu343Arg) n.802T>G n.705T>G c.147T>G n.558T>G c.986T>G (p.Leu329Arg) | |
| 12 | g.102844358A>G | CA16020922 | PAH | c.1043T>C (p.Leu348Pro) c.1028T>C (p.Leu343Pro) n.802T>C n.705T>C c.147T>C n.558T>C c.986T>C (p.Leu329Pro) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102844358A>T | CA386493414 | PAH | c.1043T>A (p.Leu348Gln) c.1028T>A (p.Leu343Gln) n.802T>A n.705T>A c.147T>A n.558T>A c.986T>A (p.Leu329Gln) | gnomAD v4 |