| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102851253_102856067del | CA916084430 | PAH | c.510-735_912+434del c.495-735_897+434del | ClinVar |
| 12 | g.102854491_102855291del | CA658656325 | PAH | c.553_706+647del c.538_691+647del c.553_*296del | ClinVar |
| 12 | g.102854490_102855289delinsATAGGTAAGTA | CA2580085705 | PAH | c.553_706+646delinsTACTTACCTAT c.538_691+646delinsTACTTACCTAT c.553_*295delinsTACTTACCTAT | ClinVar |
| 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= | |
| 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.102855155_102855353delinsTGG | CA2573147930 | PAH | c.510-21_687delinsCCA c.495-21_672delinsCCA n.606-21_783delinsCCA | ClinVar dbSNP |
| 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 | |
| 12 | g.102855156T>G | CA386296570 | PAH | c.686A>C (p.Asp229Ala) c.671A>C (p.Asp224Ala) n.782A>C | |
| 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>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 | 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.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= | |
| 12 | g.102855160C>G | CA386296579 | PAH | c.682G>C (p.Glu228Gln) c.667G>C (p.Glu223Gln) n.778G>C | |
| 12 | g.102855160C>T | CA267669 | PAH | c.682G>A (p.Glu228Lys) c.667G>A (p.Glu223Lys) n.778G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.102855161C>A | CA481578474 | PAH | c.681G>T (p.Leu227=) c.666G>T (p.Leu222=) n.777G>T | |
| 12 | g.102855161C= | CA2059449146 | PAH | c.681G= (p.Leu227=) c.666G= (p.Leu222=) n.777G= | |
| 12 | g.102855161C>G | CA481578475 | PAH | c.681G>C (p.Leu227=) c.666G>C (p.Leu222=) n.777G>C | |
| 12 | g.102855161C>T | CA6748881 | PAH | c.681G>A (p.Leu227=) c.666G>A (p.Leu222=) n.777G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855162A>C | CA386296580 | PAH | c.680T>G (p.Leu227Arg) c.665T>G (p.Leu222Arg) n.776T>G | |
| 12 | g.102855162A>G | CA386296581 | PAH | c.680T>C (p.Leu227Pro) c.665T>C (p.Leu222Pro) n.776T>C | |
| 12 | g.102855162A>T | CA16020837 | PAH | c.680T>A (p.Leu227Gln) c.665T>A (p.Leu222Gln) n.776T>A | ClinVar dbSNP |
| 12 | g.102855163G>A | CA481578476 | PAH | c.679C>T (p.Leu227=) c.664C>T (p.Leu222=) n.775C>T | ClinVar |
| 12 | g.102855163G>C | CA386296582 | PAH | c.679C>G (p.Leu227Val) c.664C>G (p.Leu222Val) n.775C>G | ClinVar dbSNP |
| 12 | g.102855163G>T | CA386296583 | PAH | c.679C>A (p.Leu227Met) c.664C>A (p.Leu222Met) n.775C>A | ClinVar |
| 12 | g.102855164C>A | CA6748882 | PAH | c.678G>T (p.Gln226His) c.663G>T (p.Gln221His) n.774G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102855164C= | CA2059449157 | PAH | c.678G= (p.Gln226=) c.663G= (p.Gln221=) n.774G= | |
| 12 | g.102855164C>G | CA229691 | PAH | c.678G>C (p.Gln226His) c.663G>C (p.Gln221His) n.774G>C | ClinVar dbSNP |
| 12 | g.102855164C>T | CA481578477 | PAH | c.678G>A (p.Gln226=) c.663G>A (p.Gln221=) n.774G>A | |
| 12 | g.102855165T>A | CA386296584 | PAH | c.677A>T (p.Gln226Leu) c.662A>T (p.Gln221Leu) n.773A>T | |
| 12 | g.102855165T>C | CA386296585 | PAH | c.677A>G (p.Gln226Arg) c.662A>G (p.Gln221Arg) n.773A>G | |
| 12 | g.102855165T>G | CA386296586 | PAH | c.677A>C (p.Gln226Pro) c.662A>C (p.Gln221Pro) n.773A>C | |
| 12 | g.102855166G>A | CA229689 | PAH | c.676C>T (p.Gln226Ter) c.661C>T (p.Gln221Ter) n.772C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855166G>C | CA386296587 | PAH | c.676C>G (p.Gln226Glu) c.661C>G (p.Gln221Glu) n.772C>G | |
| 12 | g.102855166G= | CA2059449166 | PAH | c.676C= (p.Gln226=) c.661C= (p.Gln221=) n.772C= | |
| 12 | g.102855166G>T | CA16020836 | PAH | c.676C>A (p.Gln226Lys) c.661C>A (p.Gln221Lys) n.772C>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855169del | CA2580085710 | PAH | c.676del (p.Gln226SerfsTer?) c.661del (p.Gln221SerfsTer?) n.772del | ClinVar |