| 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.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.102855156_102855165del | CA1139660758 | PAH | c.677_686del (p.Gln226ProfsTer?) c.662_671del (p.Gln221ProfsTer?) n.773_782del | ClinVar dbSNP |
| 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 |
| 12 | g.102855167G>A | CA481578481 | PAH | c.675C>T (p.Pro225=) c.660C>T (p.Pro220=) n.771C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 12 | g.102855167G>C | CA481578482 | PAH | c.675C>G (p.Pro225=) c.660C>G (p.Pro220=) n.771C>G | |
| 12 | g.102855167G>T | CA481578479 | PAH | c.675C>A (p.Pro225=) c.660C>A (p.Pro220=) n.771C>A | |
| 12 | g.102855168G>A | CA6748883 | PAH | c.674C>T (p.Pro225Leu) c.659C>T (p.Pro220Leu) n.770C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102855168G>C | CA229688 | PAH | c.674C>G (p.Pro225Arg) c.659C>G (p.Pro220Arg) n.770C>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855168G= | CA2059449179 | PAH | c.674C= (p.Pro225=) c.659C= (p.Pro220=) n.770C= | |
| 12 | g.102855168G>T | CA386296588 | PAH | c.674C>A (p.Pro225His) c.659C>A (p.Pro220His) n.770C>A | |
| 12 | g.102855168_102855175dup | CA16021000 | PAH | c.667_674dup (p.Gln226ThrfsTer?) c.652_659dup (p.Gln221ThrfsTer?) n.763_770dup | ClinVar dbSNP |
| 12 | g.102855169G>A | CA386296589 | PAH | c.673C>T (p.Pro225Ser) c.658C>T (p.Pro220Ser) n.769C>T | |
| 12 | g.102855169G>C | CA229686 | PAH | c.673C>G (p.Pro225Ala) c.658C>G (p.Pro220Ala) n.769C>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855169G= | CA2059449194 | PAH | c.673C= (p.Pro225=) c.658C= (p.Pro220=) n.769C= | |
| 12 | g.102855169G>T | CA229685 | PAH | c.673C>A (p.Pro225Thr) c.658C>A (p.Pro220Thr) n.769C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102855170A= | CA2059449207 | PAH | c.672T= (p.Ile224=) c.657T= (p.Ile219=) n.768T= | |
| 12 | g.102855170A>C | CA229684 | PAH | c.672T>G (p.Ile224Met) c.657T>G (p.Ile219Met) n.768T>G | ClinVar dbSNP |
| 12 | g.102855170A>G | CA481578487 | PAH | c.672T>C (p.Ile224=) c.657T>C (p.Ile219=) n.768T>C | |
| 12 | g.102855170A>T | CA481578486 | PAH | c.672T>A (p.Ile224=) c.657T>A (p.Ile219=) n.768T>A | |
| 12 | g.102855171A= | CA2059449214 | PAH | c.671T= (p.Ile224=) c.656T= (p.Ile219=) n.767T= | |
| 12 | g.102855171A>C | CA386296590 | PAH | c.671T>G (p.Ile224Ser) c.656T>G (p.Ile219Ser) n.767T>G | |
| 12 | g.102855171A>G | CA229682 | PAH | c.671T>C (p.Ile224Thr) c.656T>C (p.Ile219Thr) n.767T>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855171A>T | CA386296591 | PAH | c.671T>A (p.Ile224Asn) c.656T>A (p.Ile219Asn) n.767T>A | |
| 12 | g.102855172T>A | CA386296592 | PAH | c.670A>T (p.Ile224Phe) c.655A>T (p.Ile219Phe) n.766A>T | |
| 12 | g.102855172T>C | CA386296593 | PAH | c.670A>G (p.Ile224Val) c.655A>G (p.Ile219Val) n.766A>G | ClinVar gnomAD v4 |