| 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.102844337T>A | CA386493375 | PAH | c.1064A>T (p.Gln355Leu) c.1049A>T (p.Gln350Leu) n.823A>T n.726A>T c.168A>T n.579A>T c.1007A>T (p.Gln336Leu) | |
| 12 | g.102844337T>C | CA386493376 | PAH | c.1064A>G (p.Gln355Arg) c.1049A>G (p.Gln350Arg) n.823A>G n.726A>G c.168A>G n.579A>G c.1007A>G (p.Gln336Arg) | |
| 12 | g.102844337T>G | CA386493377 | PAH | c.1064A>C (p.Gln355Pro) c.1049A>C (p.Gln350Pro) n.823A>C n.726A>C c.168A>C n.579A>C c.1007A>C (p.Gln336Pro) | |
| 12 | g.102844338G>A | CA229313 | PAH | c.1063C>T (p.Gln355Ter) c.1048C>T (p.Gln350Ter) n.822C>T n.725C>T c.167C>T n.578C>T c.1006C>T (p.Gln336Ter) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102844338G>C | CA386493378 | PAH | c.1063C>G (p.Gln355Glu) c.1048C>G (p.Gln350Glu) n.822C>G n.725C>G c.167C>G n.578C>G c.1006C>G (p.Gln336Glu) | |
| 12 | g.102844338G= | CA2059448001 | PAH | c.1063C= (p.Gln355=) c.1048C= (p.Gln350=) n.822C= n.725C= c.167C= n.578C= c.1006C= (p.Gln336=) | |
| 12 | g.102844338G>T | CA386493379 | PAH | c.1063C>A (p.Gln355Lys) c.1048C>A (p.Gln350Lys) n.822C>A n.725C>A c.167C>A n.578C>A c.1006C>A (p.Gln336Lys) | gnomAD v4 COSMIC |
| 12 | g.102844339T>A | CA386493380 | PAH | c.1062A>T (p.Leu354Phe) c.1047A>T (p.Leu349Phe) n.821A>T n.724A>T c.166A>T n.577A>T c.1005A>T (p.Leu335Phe) | |
| 12 | g.102844339T>C | CA481375727 | PAH | c.1062A>G (p.Leu354=) c.1047A>G (p.Leu349=) n.821A>G n.724A>G c.166A>G n.577A>G c.1005A>G (p.Leu335=) | ClinVar dbSNP |
| 12 | g.102844339T>G | CA386493381 | PAH | c.1062A>C (p.Leu354Phe) c.1047A>C (p.Leu349Phe) n.821A>C n.724A>C c.166A>C n.577A>C c.1005A>C (p.Leu335Phe) | |
| 12 | g.102844340A>C | CA386493384 | PAH | c.1061T>G (p.Leu354Ter) c.1046T>G (p.Leu349Ter) n.820T>G n.723T>G c.165T>G n.576T>G c.1004T>G (p.Leu335Ter) | |
| 12 | g.102844340A>G | CA386493382 | PAH | c.1061T>C (p.Leu354Ser) c.1046T>C (p.Leu349Ser) n.820T>C n.723T>C c.165T>C n.576T>C c.1004T>C (p.Leu335Ser) | |
| 12 | g.102844340A>T | CA386493383 | PAH | c.1061T>A (p.Leu354Ter) c.1046T>A (p.Leu349Ter) n.820T>A n.723T>A c.165T>A n.576T>A c.1004T>A (p.Leu335Ter) | |
| 12 | g.102844341dup | CA2695217227 | PAH | c.1061dup (p.Leu354PhefsTer?) c.1046dup (p.Leu349PhefsTer?) n.820dup n.723dup c.165dup n.576dup c.1004dup (p.Leu335PhefsTer?) | |
| 12 | g.102844341A>C | CA386493385 | PAH | c.1060T>G (p.Leu354Val) c.1045T>G (p.Leu349Val) n.819T>G n.722T>G c.164T>G n.575T>G c.1003T>G (p.Leu335Val) | |
| 12 | g.102844341A>G | CA481375730 | PAH | c.1060T>C (p.Leu354=) c.1045T>C (p.Leu349=) n.819T>C n.722T>C c.164T>C n.575T>C c.1003T>C (p.Leu335=) | |
| 12 | g.102844341A>T | CA386493386 | PAH | c.1060T>A (p.Leu354Ile) c.1045T>A (p.Leu349Ile) n.819T>A n.722T>A c.164T>A n.575T>A c.1003T>A (p.Leu335Ile) | |
| 12 | g.102844342T>A | CA386493387 | PAH | c.1059A>T (p.Glu353Asp) c.1044A>T (p.Glu348Asp) n.818A>T n.721A>T c.163A>T n.574A>T c.1002A>T (p.Glu334Asp) | |
| 12 | g.102844342T>C | CA481375731 | PAH | c.1059A>G (p.Glu353=) c.1044A>G (p.Glu348=) n.818A>G n.721A>G c.163A>G n.574A>G c.1002A>G (p.Glu334=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102844342T>G | CA386493388 | PAH | c.1059A>C (p.Glu353Asp) c.1044A>C (p.Glu348Asp) n.818A>C n.721A>C c.163A>C n.574A>C c.1002A>C (p.Glu334Asp) | |
| 12 | g.102844342T= | CA2059448009 | PAH | c.1059A= (p.Glu353=) c.1044A= (p.Glu348=) n.818A= n.721A= c.163A= n.574A= c.1002A= (p.Glu334=) | |
| 12 | g.102844343T>A | CA386493389 | PAH | c.1058A>T (p.Glu353Val) c.1043A>T (p.Glu348Val) n.817A>T n.720A>T c.162A>T n.573A>T c.1001A>T (p.Glu334Val) | |
| 12 | g.102844343T>C | CA386493390 | PAH | c.1058A>G (p.Glu353Gly) c.1043A>G (p.Glu348Gly) n.817A>G n.720A>G c.162A>G n.573A>G c.1001A>G (p.Glu334Gly) | |
| 12 | g.102844343T>G | CA386493391 | PAH | c.1058A>C (p.Glu353Ala) c.1043A>C (p.Glu348Ala) n.817A>C n.720A>C c.162A>C n.573A>C c.1001A>C (p.Glu334Ala) | |
| 12 | g.102844344del | CA16020923 | PAH | c.1057del (p.Glu353AsnfsTer?) c.1042del (p.Glu348AsnfsTer?) n.816del n.719del c.161del n.572del c.1000del (p.Glu334AsnfsTer?) | ClinVar dbSNP |
| 12 | g.102844344C>A | CA386493392 | PAH | c.1057G>T (p.Glu353Ter) c.1042G>T (p.Glu348Ter) n.816G>T n.719G>T c.161G>T n.572G>T c.1000G>T (p.Glu334Ter) | |
| 12 | g.102844344C>G | CA386493393 | PAH | c.1057G>C (p.Glu353Gln) c.1042G>C (p.Glu348Gln) n.816G>C n.719G>C c.161G>C n.572G>C c.1000G>C (p.Glu334Gln) | |
| 12 | g.102844344C>T | CA386493394 | PAH | c.1057G>A (p.Glu353Lys) c.1042G>A (p.Glu348Lys) n.816G>A n.719G>A c.161G>A n.572G>A c.1000G>A (p.Glu334Lys) | |
| 12 | g.102844344_102844345delinsCA | CA2059448017 | PAH | c.1056_1057delinsTG (p.Gly352=) c.1041_1042delinsTG (p.Gly347=) n.815_816delinsTG n.718_719delinsTG c.160_161delinsTG n.571_572delinsTG c.999_1000delinsTG (p.Gly333=) | |
| 12 | g.102844345del | CA229312 | PAH | c.1056del (p.Glu353AsnfsTer?) c.1041del (p.Glu348AsnfsTer?) n.815del n.718del c.160del n.571del c.999del (p.Glu334AsnfsTer?) | ClinVar dbSNP |
| 12 | g.102844345A>C | CA481375733 | PAH | c.1056T>G (p.Gly352=) c.1041T>G (p.Gly347=) n.815T>G n.718T>G c.160T>G n.571T>G c.999T>G (p.Gly333=) | |
| 12 | g.102844345A>G | CA481375737 | PAH | c.1056T>C (p.Gly352=) c.1041T>C (p.Gly347=) n.815T>C n.718T>C c.160T>C n.571T>C c.999T>C (p.Gly333=) | |
| 12 | g.102844345A>T | CA481375738 | PAH | c.1056T>A (p.Gly352=) c.1041T>A (p.Gly347=) n.815T>A n.718T>A c.160T>A n.571T>A c.999T>A (p.Gly333=) | |
| 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) |