| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102852024_102855204dup | CA3267343361 | PAH | c.638_843-268dup c.623_828-268dup | |
| 12 | g.102852026_102855233dup | CA3267343362 | PAH | c.611_843-268dup c.596_828-268dup | |
| 12 | g.102852810_102855154dup | CA3267343368 | PAH | c.688_842+5dup c.673_827+5dup | |
| 12 | g.102852810_102855231dup | CA3267343365 | PAH | c.611_842+5dup c.596_827+5dup | |
| 12 | g.102852819_102855231dup | CA3267343372 | PAH | c.612_839dup c.597_824dup | |
| 12 | g.102852819_102855154dup | CA3267343371 | PAH | c.688_838dup c.673_823dup | |
| 12 | g.102852829_102855232dup | CA3267343375 | PAH | c.613_831dup c.598_816dup | |
| 12 | g.102852828_102855154dup | CA3267343374 | PAH | c.688_829dup c.673_814dup | |
| 12 | g.102855150_102855151del | CA2580614530 | PAH | c.693_694del (p.Gln232ValfsTer?) c.678_679del (p.Gln227ValfsTer?) n.789_790del c.693_694del (p.Gln232IlefsTer?) c.693_694del (p.Gln232ValfsTer11) | ClinVar dbSNP |
| 12 | g.102855151A= | CA2059449096 | PAH | c.691T= (p.Ser231=) c.676T= (p.Ser226=) n.787T= | dbSNP |
| 12 | g.102855151A>C | CA386296562 | PAH | c.691T>G (p.Ser231Ala) c.676T>G (p.Ser226Ala) n.787T>G | dbSNP |
| 12 | g.102855151A>G | CA229694 | PAH | c.691T>C (p.Ser231Pro) c.676T>C (p.Ser226Pro) n.787T>C | ClinVar dbSNP |
| 12 | g.102855151A>T | CA386296563 | PAH | c.691T>A (p.Ser231Thr) c.676T>A (p.Ser226Thr) n.787T>A | dbSNP |
| 12 | g.102855151_102855152insC | CA16020841 | PAH | c.690_691insG (p.Ser231ValfsTer?) c.675_676insG (p.Ser226ValfsTer?) n.786_787insG c.690_691insG (p.Ser231ValfsTer13) | ClinVar dbSNP |
| 12 | g.102855152A>C | CA481578470 | PAH | c.690T>G (p.Val230=) c.675T>G (p.Val225=) n.786T>G | |
| 12 | g.102855152A>G | CA481578471 | PAH | c.690T>C (p.Val230=) c.675T>C (p.Val225=) n.786T>C | |
| 12 | g.102855152A>T | CA481578472 | PAH | c.690T>A (p.Val230=) c.675T>A (p.Val225=) n.786T>A | |
| 12 | g.102855153A= | CA2059449107 | PAH | c.689T= (p.Val230=) c.674T= (p.Val225=) n.785T= | dbSNP |
| 12 | g.102855153A>C | CA229692 | PAH | c.689T>G (p.Val230Gly) c.674T>G (p.Val225Gly) n.785T>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855153A>G | CA16020840 | PAH | c.689T>C (p.Val230Ala) c.674T>C (p.Val225Ala) n.785T>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855153A>T | CA386296564 | PAH | c.689T>A (p.Val230Asp) c.674T>A (p.Val225Asp) n.785T>A | |
| 12 | g.102855154C>A | CA386296566 | PAH | c.688G>T (p.Val230Phe) c.673G>T (p.Val225Phe) n.784G>T | |
| 12 | g.102855154C= | CA2059449115 | PAH | c.688G= (p.Val230=) c.673G= (p.Val225=) n.784G= | dbSNP |
| 12 | g.102855154C>G | CA386296565 | PAH | c.688G>C (p.Val230Leu) c.673G>C (p.Val225Leu) n.784G>C | dbSNP |
| 12 | g.102855154C>T | CA286506 | PAH | c.688G>A (p.Val230Ile) c.673G>A (p.Val225Ile) n.784G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855155G>A | CA242473898 | PAH | c.687C>T (p.Asp229=) c.672C>T (p.Asp224=) n.783C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855155G>C | CA386296567 | PAH | c.687C>G (p.Asp229Glu) c.672C>G (p.Asp224Glu) n.783C>G | |
| 12 | g.102855155G= | CA2059449121 | PAH | c.687C= (p.Asp229=) c.672C= (p.Asp224=) n.783C= | dbSNP |
| 12 | g.102855155G>T | CA386296568 | PAH | c.687C>A (p.Asp229Glu) c.672C>A (p.Asp224Glu) n.783C>A | |
| 12 | g.102855155_102855165delinsGTCTTCCAGCT | CA2059449122 | PAH | c.677_687delinsAGCTGGAAGAC (p.Gln226=) c.662_672delinsAGCTGGAAGAC (p.Gln221=) n.773_783delinsAGCTGGAAGAC | |
| 12 | g.102855156T>A | CA386296569 | PAH | c.686A>T (p.Asp229Val) c.671A>T (p.Asp224Val) n.782A>T | |
| 12 | g.102855156T>C | CA16020839 | PAH | c.686A>G (p.Asp229Gly) c.671A>G (p.Asp224Gly) n.782A>G | ClinVar |
| 12 | g.102855156T>G | CA386296570 | PAH | c.686A>C (p.Asp229Ala) c.671A>C (p.Asp224Ala) n.782A>C | |
| 12 | g.102855156T= | CA3192910737 | PAH | c.686A= (p.Asp229=) c.671A= (p.Asp224=) n.782A= | dbSNP |
| 12 | g.102855156dup | CA891843538 | PAH | c.686dup (p.Asp229GlufsTer?) c.671dup (p.Asp224GlufsTer?) n.782dup c.686dup (p.Asp229GlufsTer15) | ClinVar dbSNP |
| 12 | g.102855156_102855165del | CA1139660758 | PAH | c.677_686del (p.Gln226ProfsTer?) c.662_671del (p.Gln221ProfsTer?) n.773_782del | ClinVar dbSNP |
| 12 | g.102855157C>A | CA386296571 | PAH | c.685G>T (p.Asp229Tyr) c.670G>T (p.Asp224Tyr) n.781G>T | |
| 12 | g.102855157C= | CA3197755704 | PAH | c.685G= (p.Asp229=) c.670G= (p.Asp224=) n.781G= | dbSNP |
| 12 | g.102855157C>G | CA386296572 | PAH | c.685G>C (p.Asp229His) c.670G>C (p.Asp224His) n.781G>C | |
| 12 | g.102855157C>T | CA386296573 | PAH | c.685G>A (p.Asp229Asn) c.670G>A (p.Asp224Asn) n.781G>A | dbSNP gnomAD v4 |
| 12 | g.102855158T>A | CA386296574 | PAH | c.684A>T (p.Glu228Asp) c.669A>T (p.Glu223Asp) n.780A>T | |
| 12 | g.102855158T>C | CA481578473 | PAH | c.684A>G (p.Glu228=) c.669A>G (p.Glu223=) n.780A>G | |
| 12 | g.102855158T>G | CA386296575 | PAH | c.684A>C (p.Glu228Asp) c.669A>C (p.Glu223Asp) n.780A>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855158T= | CA3194757400 | PAH | c.684A= (p.Glu228=) c.669A= (p.Glu223=) n.780A= | dbSNP |
| 12 | g.102855159del | CA2575266911 | PAH | c.684del (p.Asp229ThrfsTer?) c.669del (p.Asp224ThrfsTer?) n.780del | |
| 12 | g.102855159T>A | CA386296576 | PAH | c.683A>T (p.Glu228Val) c.668A>T (p.Glu223Val) n.779A>T | |
| 12 | g.102855159T>C | CA386296577 | PAH | c.683A>G (p.Glu228Gly) c.668A>G (p.Glu223Gly) n.779A>G | |
| 12 | g.102855159T>G | CA386296578 | PAH | c.683A>C (p.Glu228Ala) c.668A>C (p.Glu223Ala) n.779A>C | |
| 12 | g.102855160C>A | CA16020838 | PAH | c.682G>T (p.Glu228Ter) c.667G>T (p.Glu223Ter) n.778G>T | ClinVar dbSNP |
| 12 | g.102855160C= | CA2059449138 | PAH | c.682G= (p.Glu228=) c.667G= (p.Glu223=) n.778G= | dbSNP |