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.102844376_102844377delinsGC | CA2059448283 | PAH | c.1024_1025delinsGC (p.Ala342=) c.1009_1010delinsGC (p.Ala337=) n.783_784delinsGC n.686_687delinsGC c.128_129delinsGC n.539_540delinsGC c.967_968delinsGC (p.Ala323=) | |
12 | g.102844377C>A | CA386493434 | PAH | c.1024G>T (p.Ala342Ser) c.1009G>T (p.Ala337Ser) n.783G>T n.686G>T c.128G>T n.539G>T c.967G>T (p.Ala323Ser) | |
12 | g.102844377C= | CA2059448307 | PAH | c.1024G= (p.Ala342=) c.1009G= (p.Ala337=) n.783G= n.686G= c.128G= n.539G= c.967G= (p.Ala323=) | |
12 | g.102844377C>G | CA229277 | PAH | c.1024G>C (p.Ala342Pro) c.1009G>C (p.Ala337Pro) n.783G>C n.686G>C c.128G>C n.539G>C c.967G>C (p.Ala323Pro) | ClinVar dbSNP |
12 | g.102844377C>T | CA229276 | PAH | c.1024G>A (p.Ala342Thr) c.1009G>A (p.Ala337Thr) n.783G>A n.686G>A c.128G>A n.539G>A c.967G>A (p.Ala323Thr) | ClinVar dbSNP |
12 | g.102844378del | CA229279 | PAH | c.1024del (p.Ala342HisfsTer?) c.1009del (p.Ala337HisfsTer?) n.783del n.686del c.128del n.539del c.967del (p.Ala323HisfsTer?) | ClinVar dbSNP gnomAD v4 |
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.102844378C>A | CA386493435 | PAH | c.1023G>T (p.Lys341Asn) c.1008G>T (p.Lys336Asn) n.782G>T n.685G>T c.127G>T n.538G>T c.966G>T (p.Lys322Asn) | |
12 | g.102844378C= | CA2059448320 | PAH | c.1023G= (p.Lys341=) c.1008G= (p.Lys336=) n.782G= n.685G= c.127G= n.538G= c.966G= (p.Lys322=) | |
12 | g.102844378C>G | CA386493436 | PAH | c.1023G>C (p.Lys341Asn) c.1008G>C (p.Lys336Asn) n.782G>C n.685G>C c.127G>C n.538G>C c.966G>C (p.Lys322Asn) | ClinVar |
12 | g.102844378C>T | CA6748766 | PAH | c.1023G>A (p.Lys341=) c.1008G>A (p.Lys336=) n.782G>A n.685G>A c.127G>A n.538G>A c.966G>A (p.Lys322=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102844379T>A | CA386493437 | PAH | c.1022A>T (p.Lys341Met) c.1007A>T (p.Lys336Met) n.781A>T n.684A>T c.126A>T n.537A>T c.965A>T (p.Lys322Met) | |
12 | g.102844379T>C | CA229275 | PAH | c.1022A>G (p.Lys341Arg) c.1007A>G (p.Lys336Arg) n.781A>G n.684A>G c.126A>G n.537A>G c.965A>G (p.Lys322Arg) | ClinVar dbSNP gnomAD v4 |
12 | g.102844379T>G | CA229274 | PAH | c.1022A>C (p.Lys341Thr) c.1007A>C (p.Lys336Thr) n.781A>C n.684A>C c.126A>C n.537A>C c.965A>C (p.Lys322Thr) | ClinVar dbSNP gnomAD v4 |
12 | g.102844379T= | CA2059448331 | PAH | c.1022A= (p.Lys341=) c.1007A= (p.Lys336=) n.781A= n.684A= c.126A= n.537A= c.965A= (p.Lys322=) | |
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=) |