| 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_102855353delinsTGG | CA2573147930 | PAH | c.510-21_687delinsCCA c.495-21_672delinsCCA n.606-21_783delinsCCA | ClinVar dbSNP |
| 12 | g.102855177_102855353del | CA16020833 | PAH | c.510-19_667del c.495-19_652del n.606-19_763del | ClinVar |
| 12 | g.102855176_102855178delinsATC | CA2059449231 | PAH | c.664_666delinsGAT (p.Asp222=) c.649_651delinsGAT (p.Asp217=) n.760_762delinsGAT | |
| 12 | g.102855177T>A | CA229681 | PAH | c.665A>T (p.Asp222Val) c.650A>T (p.Asp217Val) n.761A>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855177T>C | CA229679 | PAH | c.665A>G (p.Asp222Gly) c.650A>G (p.Asp217Gly) n.761A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102855177T>G | CA386296602 | PAH | c.665A>C (p.Asp222Ala) c.650A>C (p.Asp217Ala) n.761A>C | gnomAD v4 |
| 12 | g.102855177T= | CA2059449244 | PAH | c.665A= (p.Asp222=) c.650A= (p.Asp217=) n.761A= | |
| 12 | g.102855178_102855179del | CA229678 | PAH | c.664_665del (p.Asp222Ter) c.649_650del (p.Asp217Ter) n.760_761del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855179_102855181del | CA2620526441 | PAH | c.663_665del (p.Glu221del) c.648_650del (p.Glu216del) n.759_761del | gnomAD v4 |
| 12 | g.102855178C>A | CA386296605 | PAH | c.664G>T (p.Asp222Tyr) c.649G>T (p.Asp217Tyr) n.760G>T | gnomAD v4 |
| 12 | g.102855178C>G | CA386296603 | PAH | c.664G>C (p.Asp222His) c.649G>C (p.Asp217His) n.760G>C | |
| 12 | g.102855178C>T | CA386296604 | PAH | c.664G>A (p.Asp222Asn) c.649G>A (p.Asp217Asn) n.760G>A | |
| 12 | g.102855179T>A | CA386296606 | PAH | c.663A>T (p.Glu221Asp) c.648A>T (p.Glu216Asp) n.759A>T | |
| 12 | g.102855179T>C | CA481578497 | PAH | c.663A>G (p.Glu221=) c.648A>G (p.Glu216=) n.759A>G | |
| 12 | g.102855179T>G | CA386296607 | PAH | c.663A>C (p.Glu221Asp) c.648A>C (p.Glu216Asp) n.759A>C | |
| 12 | g.102855180T>A | CA386296608 | PAH | c.662A>T (p.Glu221Val) c.647A>T (p.Glu216Val) n.758A>T | |
| 12 | g.102855180T>C | CA229677 | PAH | c.662A>G (p.Glu221Gly) c.647A>G (p.Glu216Gly) n.758A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102855180T>G | CA386296609 | PAH | c.662A>C (p.Glu221Ala) c.647A>C (p.Glu216Ala) n.758A>C | |
| 12 | g.102855180T= | CA2059449252 | PAH | c.662A= (p.Glu221=) c.647A= (p.Glu216=) n.758A= | |
| 12 | g.102855181C>A | CA386296612 | PAH | c.661G>T (p.Glu221Ter) c.646G>T (p.Glu216Ter) n.757G>T | |
| 12 | g.102855181C>G | CA386296610 | PAH | c.661G>C (p.Glu221Gln) c.646G>C (p.Glu216Gln) n.757G>C | |
| 12 | g.102855181C>T | CA386296611 | PAH | c.661G>A (p.Glu221Lys) c.646G>A (p.Glu216Lys) n.757G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 12 | g.102855182A>C | CA386296613 | PAH | c.660T>G (p.His220Gln) c.645T>G (p.His215Gln) n.756T>G | |
| 12 | g.102855182A>G | CA481578499 | PAH | c.660T>C (p.His220=) c.645T>C (p.His215=) n.756T>C | |
| 12 | g.102855182A>T | CA386296614 | PAH | c.660T>A (p.His220Gln) c.645T>A (p.His215Gln) n.756T>A | |
| 12 | g.102855183T>A | CA386296615 | PAH | c.659A>T (p.His220Leu) c.644A>T (p.His215Leu) n.755A>T | |
| 12 | g.102855183T>C | CA386296616 | PAH | c.659A>G (p.His220Arg) c.644A>G (p.His215Arg) n.755A>G | dbSNP gnomAD v4 |
| 12 | g.102855183T>G | CA16020832 | PAH | c.659A>C (p.His220Pro) c.644A>C (p.His215Pro) n.755A>C | ClinVar dbSNP |
| 12 | g.102855183T= | CA2059449254 | PAH | c.659A= (p.His220=) c.644A= (p.His215=) n.755A= | |
| 12 | g.102855184G>A | CA386296617 | PAH | c.658C>T (p.His220Tyr) c.643C>T (p.His215Tyr) n.754C>T | |
| 12 | g.102855184G>C | CA386296618 | PAH | c.658C>G (p.His220Asp) c.643C>G (p.His215Asp) n.754C>G | COSMIC |
| 12 | g.102855184G>T | CA386296619 | PAH | c.658C>A (p.His220Asn) c.643C>A (p.His215Asn) n.754C>A | |
| 12 | g.102855185G>A | CA481578503 | PAH | c.657C>T (p.Phe219=) c.642C>T (p.Phe214=) n.753C>T | ClinVar |
| 12 | g.102855185G>C | CA386296620 | PAH | c.657C>G (p.Phe219Leu) c.642C>G (p.Phe214Leu) n.753C>G | |
| 12 | g.102855185G>T | CA386296621 | PAH | c.657C>A (p.Phe219Leu) c.642C>A (p.Phe214Leu) n.753C>A | |
| 12 | g.102855186A= | CA2059449262 | PAH | c.656T= (p.Phe219=) c.641T= (p.Phe214=) n.752T= | |
| 12 | g.102855186A>C | CA386296622 | PAH | c.656T>G (p.Phe219Cys) c.641T>G (p.Phe214Cys) n.752T>G | |
| 12 | g.102855186A>G | CA16020831 | PAH | c.656T>C (p.Phe219Ser) c.641T>C (p.Phe214Ser) n.752T>C | ClinVar dbSNP |
| 12 | g.102855186A>T | CA386296623 | PAH | c.656T>A (p.Phe219Tyr) c.641T>A (p.Phe214Tyr) n.752T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102855187A>C | CA386296626 | PAH | c.655T>G (p.Phe219Val) c.640T>G (p.Phe214Val) n.751T>G | |
| 12 | g.102855187A>G | CA386296624 | PAH | c.655T>C (p.Phe219Leu) c.640T>C (p.Phe214Leu) n.751T>C | |
| 12 | g.102855187A>T | CA386296625 | PAH | c.655T>A (p.Phe219Ile) c.640T>A (p.Phe214Ile) n.751T>A | |
| 12 | g.102855188G>A | CA242473996 | PAH | c.654C>T (p.Gly218=) c.639C>T (p.Gly213=) n.750C>T | ClinVar dbSNP |
| 12 | g.102855188G>C | CA481578507 | PAH | c.654C>G (p.Gly218=) c.639C>G (p.Gly213=) n.750C>G | ClinVar dbSNP |
| 12 | g.102855188G= | CA2059449271 | PAH | c.654C= (p.Gly218=) c.639C= (p.Gly213=) n.750C= | |
| 12 | g.102855188G>T | CA481578506 | PAH | c.654C>A (p.Gly218=) c.639C>A (p.Gly213=) n.750C>A | |
| 12 | g.102855189C>A | CA229676 | PAH | c.653G>T (p.Gly218Val) c.638G>T (p.Gly213Val) n.749G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |