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.102844381_102844394dup | CA2739277285 | PAH | c.1011_1024dup (p.Ala342GlufsTer4) c.996_1009dup (p.Ala337GlufsTer4) n.770_783dup n.673_686dup c.115_128dup n.526_539dup c.954_967dup (p.Ala323GlufsTer4) | |
12 | g.102844381del | CA2620508480 | PAH | c.1022del (p.Lys341ArgfsTer?) c.1007del (p.Lys336ArgfsTer?) n.781del n.684del c.126del n.537del c.965del (p.Lys322ArgfsTer?) | gnomAD v4 |
12 | g.102844380_102844381del | CA2620508481 | PAH | c.1021_1022del (p.Lys341GlyfsTer12) c.1006_1007del (p.Lys336GlyfsTer12) n.780_781del n.683_684del c.125_126del n.536_537del c.964_965del (p.Lys322GlyfsTer12) | gnomAD v4 |
12 | g.102844380T>A | CA229272 | PAH | c.1021A>T (p.Lys341Ter) c.1006A>T (p.Lys336Ter) n.780A>T n.683A>T c.125A>T n.536A>T c.964A>T (p.Lys322Ter) | ClinVar dbSNP |
12 | g.102844380T>C | CA386493438 | PAH | c.1021A>G (p.Lys341Glu) c.1006A>G (p.Lys336Glu) n.780A>G n.683A>G c.125A>G n.536A>G c.964A>G (p.Lys322Glu) | |
12 | g.102844380T>G | CA386493439 | PAH | c.1021A>C (p.Lys341Gln) c.1006A>C (p.Lys336Gln) n.780A>C n.683A>C c.125A>C n.536A>C c.964A>C (p.Lys322Gln) | |
12 | g.102844380T= | CA2059448342 | PAH | c.1021A= (p.Lys341=) c.1006A= (p.Lys336=) n.780A= n.683A= c.125A= n.536A= c.964A= (p.Lys322=) | |
12 | g.102844381T>A | CA481375767 | PAH | c.1020A>T (p.Ile340=) c.1005A>T (p.Ile335=) n.779A>T n.682A>T c.124A>T n.535A>T c.963A>T (p.Ile321=) | |
12 | g.102844381T>C | CA386493440 | PAH | c.1020A>G (p.Ile340Met) c.1005A>G (p.Ile335Met) n.779A>G n.682A>G c.124A>G n.535A>G c.963A>G (p.Ile321Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102844381T>G | CA481375768 | PAH | c.1020A>C (p.Ile340=) c.1005A>C (p.Ile335=) n.779A>C n.682A>C c.124A>C n.535A>C c.963A>C (p.Ile321=) | |
12 | g.102844381T= | CA2059448348 | PAH | c.1020A= (p.Ile340=) c.1005A= (p.Ile335=) n.779A= n.682A= c.124A= n.535A= c.963A= (p.Ile321=) | |
12 | g.102844382A= | CA2059448359 | PAH | c.1019T= (p.Ile340=) c.1004T= (p.Ile335=) n.778T= n.681T= c.123T= n.534T= c.962T= (p.Ile321=) | |
12 | g.102844382A>C | CA386493441 | PAH | c.1019T>G (p.Ile340Arg) c.1004T>G (p.Ile335Arg) n.778T>G n.681T>G c.123T>G n.534T>G c.962T>G (p.Ile321Arg) | |
12 | g.102844382A>G | CA229270 | PAH | c.1019T>C (p.Ile340Thr) c.1004T>C (p.Ile335Thr) n.778T>C n.681T>C c.123T>C n.534T>C c.962T>C (p.Ile321Thr) | ClinVar dbSNP gnomAD v4 |
12 | g.102844382A>T | CA386493442 | PAH | c.1019T>A (p.Ile340Lys) c.1004T>A (p.Ile335Lys) n.778T>A n.681T>A c.123T>A n.534T>A c.962T>A (p.Ile321Lys) | |
12 | g.102844383T>A | CA386493443 | PAH | c.1018A>T (p.Ile340Leu) c.1003A>T (p.Ile335Leu) n.777A>T n.680A>T c.122A>T n.533A>T c.961A>T (p.Ile321Leu) | |
12 | g.102844383T>C | CA386493444 | PAH | c.1018A>G (p.Ile340Val) c.1003A>G (p.Ile335Val) n.777A>G n.680A>G c.122A>G n.533A>G c.961A>G (p.Ile321Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102844383T>G | CA386493445 | PAH | c.1018A>C (p.Ile340Leu) c.1003A>C (p.Ile335Leu) n.777A>C n.680A>C c.122A>C n.533A>C c.961A>C (p.Ile321Leu) | gnomAD v4 |
12 | g.102844383T= | CA2059448367 | PAH | c.1018A= (p.Ile340=) c.1003A= (p.Ile335=) n.777A= n.680A= c.122A= n.533A= c.961A= (p.Ile321=) | |
12 | g.102844384G>A | CA481375770 | PAH | c.1017C>T (p.Ser339=) c.1002C>T (p.Ser334=) n.776C>T n.679C>T c.121C>T n.532C>T c.960C>T (p.Ser320=) | |
12 | g.102844384G>C | CA481375769 | PAH | c.1017C>G (p.Ser339=) c.1002C>G (p.Ser334=) n.776C>G n.679C>G c.121C>G n.532C>G c.960C>G (p.Ser320=) | |
12 | g.102844384G>T | CA481375771 | PAH | c.1017C>A (p.Ser339=) c.1002C>A (p.Ser334=) n.776C>A n.679C>A c.121C>A n.532C>A c.960C>A (p.Ser320=) | |
12 | g.102844385G>A | CA386493446 | PAH | c.1016C>T (p.Ser339Phe) c.1001C>T (p.Ser334Phe) n.775C>T n.678C>T c.120C>T n.531C>T c.959C>T (p.Ser320Phe) | ClinVar |
12 | g.102844385G>C | CA386493447 | PAH | c.1016C>G (p.Ser339Cys) c.1001C>G (p.Ser334Cys) n.775C>G n.678C>G c.120C>G n.531C>G c.959C>G (p.Ser320Cys) | gnomAD v4 |
12 | g.102844385G>T | CA386493448 | PAH | c.1016C>A (p.Ser339Tyr) c.1001C>A (p.Ser334Tyr) n.775C>A n.678C>A c.120C>A n.531C>A c.959C>A (p.Ser320Tyr) | |
12 | g.102844386A>C | CA386493449 | PAH | c.1015T>G (p.Ser339Ala) c.1000T>G (p.Ser334Ala) n.774T>G n.677T>G c.119T>G n.530T>G c.958T>G (p.Ser320Ala) | |
12 | g.102844386A>G | CA386493451 | PAH | c.1015T>C (p.Ser339Pro) c.1000T>C (p.Ser334Pro) n.774T>C n.677T>C c.119T>C n.530T>C c.958T>C (p.Ser320Pro) | |
12 | g.102844386A>T | CA386493450 | PAH | c.1015T>A (p.Ser339Thr) c.1000T>A (p.Ser334Thr) n.774T>A n.677T>A c.119T>A n.530T>A c.958T>A (p.Ser320Thr) | |
12 | g.102844387G>A | CA481375772 | PAH | c.1014C>T (p.Asp338=) c.999C>T (p.Asp333=) n.773C>T n.676C>T c.118C>T n.529C>T c.957C>T (p.Asp319=) | |
12 | g.102844387G>C | CA386493452 | PAH | c.1014C>G (p.Asp338Glu) c.999C>G (p.Asp333Glu) n.773C>G n.676C>G c.118C>G n.529C>G c.957C>G (p.Asp319Glu) | |
12 | g.102844387G>T | CA386493453 | PAH | c.1014C>A (p.Asp338Glu) c.999C>A (p.Asp333Glu) n.773C>A n.676C>A c.118C>A n.529C>A c.957C>A (p.Asp319Glu) | |
12 | g.102844388T>A | CA386493454 | PAH | c.1013A>T (p.Asp338Val) c.998A>T (p.Asp333Val) n.772A>T n.675A>T c.117A>T n.528A>T c.956A>T (p.Asp319Val) | gnomAD v4 |
12 | g.102844388T>C | CA386493455 | PAH | c.1013A>G (p.Asp338Gly) c.998A>G (p.Asp333Gly) n.772A>G n.675A>G c.117A>G n.528A>G c.956A>G (p.Asp319Gly) | gnomAD v4 |
12 | g.102844388T>G | CA386493456 | PAH | c.1013A>C (p.Asp338Ala) c.998A>C (p.Asp333Ala) n.772A>C n.675A>C c.117A>C n.528A>C c.956A>C (p.Asp319Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.102844388T= | CA2059448372 | PAH | c.1013A= (p.Asp338=) c.998A= (p.Asp333=) n.772A= n.675A= c.117A= n.528A= c.956A= (p.Asp319=) | |
12 | g.102844389C>A | CA229269 | PAH | c.1012G>T (p.Asp338Tyr) c.997G>T (p.Asp333Tyr) n.771G>T n.674G>T c.116G>T n.527G>T c.955G>T (p.Asp319Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.102844389C= | CA2059448375 | PAH | c.1012G= (p.Asp338=) c.997G= (p.Asp333=) n.771G= n.674G= c.116G= n.527G= c.955G= (p.Asp319=) | |
12 | g.102844389C>G | CA386493457 | PAH | c.1012G>C (p.Asp338His) c.997G>C (p.Asp333His) n.771G>C n.674G>C c.116G>C n.527G>C c.955G>C (p.Asp319His) | |
12 | g.102844389C>T | CA386493458 | PAH | c.1012G>A (p.Asp338Asn) c.997G>A (p.Asp333Asn) n.771G>A n.674G>A c.116G>A n.527G>A c.955G>A (p.Asp319Asn) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.102844390T>A | CA481375773 | PAH | c.1011A>T (p.Gly337=) c.996A>T (p.Gly332=) n.770A>T n.673A>T c.115A>T n.526A>T c.954A>T (p.Gly318=) | |
12 | g.102844390T>C | CA481375774 | PAH | c.1011A>G (p.Gly337=) c.996A>G (p.Gly332=) n.770A>G n.673A>G c.115A>G n.526A>G c.954A>G (p.Gly318=) | |
12 | g.102844390T>G | CA481375775 | PAH | c.1011A>C (p.Gly337=) c.996A>C (p.Gly332=) n.770A>C n.673A>C c.115A>C n.526A>C c.954A>C (p.Gly318=) | |
12 | g.102844391C>A | CA229268 | PAH | c.1010G>T (p.Gly337Val) c.995G>T (p.Gly332Val) n.769G>T n.672G>T c.114G>T n.525G>T c.953G>T (p.Gly318Val) | ClinVar dbSNP |
12 | g.102844391C= | CA2059448379 | PAH | c.1010G= (p.Gly337=) c.995G= (p.Gly332=) n.769G= n.672G= c.114G= n.525G= c.953G= (p.Gly318=) | |
12 | g.102844391C>G | CA386493459 | PAH | c.1010G>C (p.Gly337Ala) c.995G>C (p.Gly332Ala) n.769G>C n.672G>C c.114G>C n.525G>C c.953G>C (p.Gly318Ala) | |
12 | g.102844391C>T | CA6748767 | PAH | c.1010G>A (p.Gly337Glu) c.995G>A (p.Gly332Glu) n.769G>A n.672G>A c.114G>A n.525G>A c.953G>A (p.Gly318Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102844392C>A | CA386493460 | PAH | c.1009G>T (p.Gly337Ter) c.994G>T (p.Gly332Ter) n.768G>T n.671G>T c.113G>T n.524G>T c.952G>T (p.Gly318Ter) | gnomAD v4 |
12 | g.102844392C>G | CA386493461 | PAH | c.1009G>C (p.Gly337Arg) c.994G>C (p.Gly332Arg) n.768G>C n.671G>C c.113G>C n.524G>C c.952G>C (p.Gly318Arg) | |
12 | g.102844392C>T | CA386493462 | PAH | c.1009G>A (p.Gly337Arg) c.994G>A (p.Gly332Arg) n.768G>A n.671G>A c.113G>A n.524G>A c.952G>A (p.Gly318Arg) |