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) | ClinVar |
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) | ClinVar 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) | |
12 | g.102844393T>A | CA386493463 | PAH | c.1008A>T (p.Gln336His) c.993A>T (p.Gln331His) n.767A>T n.670A>T c.112A>T n.523A>T c.951A>T (p.Gln317His) | |
12 | g.102844393T>C | CA481375776 | PAH | c.1008A>G (p.Gln336=) c.993A>G (p.Gln331=) n.767A>G n.670A>G c.112A>G n.523A>G c.951A>G (p.Gln317=) | |
12 | g.102844393T>G | CA386493464 | PAH | c.1008A>C (p.Gln336His) c.993A>C (p.Gln331His) n.767A>C n.670A>C c.112A>C n.523A>C c.951A>C (p.Gln317His) | |
12 | g.102844394T>A | CA386493465 | PAH | c.1007A>T (p.Gln336Leu) c.992A>T (p.Gln331Leu) n.766A>T n.669A>T c.111A>T n.522A>T c.950A>T (p.Gln317Leu) | |
12 | g.102844394T>C | CA229266 | PAH | c.1007A>G (p.Gln336Arg) c.992A>G (p.Gln331Arg) n.766A>G n.669A>G c.111A>G n.522A>G c.950A>G (p.Gln317Arg) | ClinVar dbSNP |
12 | g.102844394T>G | CA386493466 | PAH | c.1007A>C (p.Gln336Pro) c.992A>C (p.Gln331Pro) n.766A>C n.669A>C c.111A>C n.522A>C c.950A>C (p.Gln317Pro) | |
12 | g.102844394T= | CA2059448389 | PAH | c.1007A= (p.Gln336=) c.992A= (p.Gln331=) n.766A= n.669A= c.111A= n.522A= c.950A= (p.Gln317=) | |
12 | g.102844395G>A | CA229264 | PAH | c.1006C>T (p.Gln336Ter) c.991C>T (p.Gln331Ter) n.765C>T n.668C>T c.110C>T n.521C>T c.949C>T (p.Gln317Ter) | ClinVar dbSNP |
12 | g.102844395G>C | CA6748768 | PAH | c.1006C>G (p.Gln336Glu) c.991C>G (p.Gln331Glu) n.765C>G n.668C>G c.110C>G n.521C>G c.949C>G (p.Gln317Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102844395G= | CA2059448398 | PAH | c.1006C= (p.Gln336=) c.991C= (p.Gln331=) n.765C= n.668C= c.110C= n.521C= c.949C= (p.Gln317=) | |
12 | g.102844395G>T | CA386493467 | PAH | c.1006C>A (p.Gln336Lys) c.991C>A (p.Gln331Lys) n.765C>A n.668C>A c.110C>A n.521C>A c.949C>A (p.Gln317Lys) | |
12 | g.102844396T>A | CA386493468 | PAH | c.1005A>T (p.Lys335Asn) c.990A>T (p.Lys330Asn) n.764A>T n.667A>T c.109A>T n.520A>T c.948A>T (p.Lys316Asn) | gnomAD v4 |
12 | g.102844396T>C | CA481375777 | PAH | c.1005A>G (p.Lys335=) c.990A>G (p.Lys330=) n.764A>G n.667A>G c.109A>G n.520A>G c.948A>G (p.Lys316=) | |
12 | g.102844396T>G | CA386493469 | PAH | c.1005A>C (p.Lys335Asn) c.990A>C (p.Lys330Asn) n.764A>C n.667A>C c.109A>C n.520A>C c.948A>C (p.Lys316Asn) | |
12 | g.102844397T>A | CA386493470 | PAH | c.1004A>T (p.Lys335Ile) c.989A>T (p.Lys330Ile) n.763A>T n.666A>T c.108A>T n.519A>T c.947A>T (p.Lys316Ile) | |
12 | g.102844397T>C | CA386493471 | PAH | c.1004A>G (p.Lys335Arg) c.989A>G (p.Lys330Arg) n.763A>G n.666A>G c.108A>G n.519A>G c.947A>G (p.Lys316Arg) | |
12 | g.102844397T>G | CA267623 | PAH | c.1004A>C (p.Lys335Thr) c.989A>C (p.Lys330Thr) n.763A>C n.666A>C c.108A>C n.519A>C c.947A>C (p.Lys316Thr) | ClinVar dbSNP |
12 | g.102844397T= | CA2059448406 | PAH | c.1004A= (p.Lys335=) c.989A= (p.Lys330=) n.763A= n.666A= c.108A= n.519A= c.947A= (p.Lys316=) | |
12 | g.102844398T>A | CA386493473 | PAH | c.1003A>T (p.Lys335Ter) c.988A>T (p.Lys330Ter) n.762A>T n.665A>T c.107A>T n.518A>T c.946A>T (p.Lys316Ter) | |
12 | g.102844398T>C | CA10603769 | PAH | c.1003A>G (p.Lys335Glu) c.988A>G (p.Lys330Glu) n.762A>G n.665A>G c.107A>G n.518A>G c.946A>G (p.Lys316Glu) | ClinVar dbSNP |
12 | g.102844398T>G | CA386493472 | PAH | c.1003A>C (p.Lys335Gln) c.988A>C (p.Lys330Gln) n.762A>C n.665A>C c.107A>C n.518A>C c.946A>C (p.Lys316Gln) | |
12 | g.102844398T= | CA2059448415 | PAH | c.1003A= (p.Lys335=) c.988A= (p.Lys330=) n.762A= n.665A= c.107A= n.518A= c.946A= (p.Lys316=) | |
12 | g.102844399G>A | CA6748769 | PAH | c.1002C>T (p.Cys334=) c.987C>T (p.Cys329=) n.761C>T n.664C>T c.106C>T n.517C>T c.945C>T (p.Cys315=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102844399G>C | CA386493474 | PAH | c.1002C>G (p.Cys334Trp) c.987C>G (p.Cys329Trp) n.761C>G n.664C>G c.106C>G n.517C>G c.945C>G (p.Cys315Trp) |