| 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 | |
| 12 | g.102855179_102855181del | CA2620526441 | PAH | c.663_665del (p.Glu221del) c.648_650del (p.Glu216del) n.759_761del | gnomAD v4 |
| 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 | |
| 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 |
| 12 | g.102855189C= | CA2059449280 | PAH | c.653G= (p.Gly218=) c.638G= (p.Gly213=) n.749G= | |
| 12 | g.102855189C>G | CA386296627 | PAH | c.653G>C (p.Gly218Ala) c.638G>C (p.Gly213Ala) n.749G>C | |
| 12 | g.102855189C>T | CA386296628 | PAH | c.653G>A (p.Gly218Asp) c.638G>A (p.Gly213Asp) n.749G>A | |
| 12 | g.102855190del | CA16020830 | PAH | c.653del (p.Gly218AlafsTer?) c.638del (p.Gly213AlafsTer?) n.749del | |
| 12 | g.102855190C>A | CA386296629 | PAH | c.652G>T (p.Gly218Cys) c.637G>T (p.Gly213Cys) n.748G>T | |
| 12 | g.102855190C>G | CA386296630 | PAH | c.652G>C (p.Gly218Arg) c.637G>C (p.Gly213Arg) n.748G>C | |
| 12 | g.102855190C>T | CA386296631 | PAH | c.652G>A (p.Gly218Ser) c.637G>A (p.Gly213Ser) n.748G>A | |
| 12 | g.102855191A>C | CA386296632 | PAH | c.651T>G (p.Cys217Trp) c.636T>G (p.Cys212Trp) n.747T>G | |
| 12 | g.102855191A>G | CA481578511 | PAH | c.651T>C (p.Cys217=) c.636T>C (p.Cys212=) n.747T>C | ClinVar dbSNP |
| 12 | g.102855191A>T | CA386296633 | PAH | c.651T>A (p.Cys217Ter) c.636T>A (p.Cys212Ter) n.747T>A | |
| 12 | g.102855192C>A | CA386296634 | PAH | c.650G>T (p.Cys217Phe) c.635G>T (p.Cys212Phe) n.746G>T | ClinVar |
| 12 | g.102855192C= | CA2059449293 | PAH | c.650G= (p.Cys217=) c.635G= (p.Cys212=) n.746G= | |
| 12 | g.102855192C>G | CA386296635 | PAH | c.650G>C (p.Cys217Ser) c.635G>C (p.Cys212Ser) n.746G>C | |
| 12 | g.102855192C>T | CA229674 | PAH | c.650G>A (p.Cys217Tyr) c.635G>A (p.Cys212Tyr) n.746G>A | ClinVar dbSNP |
| 12 | g.102855193A= | CA2059449306 | PAH | c.649T= (p.Cys217=) c.634T= (p.Cys212=) n.745T= | |
| 12 | g.102855193A>C | CA229673 | PAH | c.649T>G (p.Cys217Gly) c.634T>G (p.Cys212Gly) n.745T>G | ClinVar dbSNP |