| 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.102855226A= | CA2059449418 | PAH | c.616T= (p.Tyr206=) c.601T= (p.Tyr201=) n.712T= | |
| 12 | g.102855226A>C | CA229659 | PAH | c.616T>G (p.Tyr206Asp) c.601T>G (p.Tyr201Asp) n.712T>G | ClinVar dbSNP |
| 12 | g.102855226A>G | CA386296706 | PAH | c.616T>C (p.Tyr206His) c.601T>C (p.Tyr201His) n.712T>C | |
| 12 | g.102855226A>T | CA386296705 | PAH | c.616T>A (p.Tyr206Asn) c.601T>A (p.Tyr201Asn) n.712T>A | |
| 12 | g.102855227C>A | CA386296707 | PAH | c.615G>T (p.Glu205Asp) c.600G>T (p.Glu200Asp) n.711G>T | |
| 12 | g.102855227C= | CA2059449426 | PAH | c.615G= (p.Glu205=) c.600G= (p.Glu200=) n.711G= | |
| 12 | g.102855227C>G | CA312804 | PAH | c.615G>C (p.Glu205Asp) c.600G>C (p.Glu200Asp) n.711G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102855227C>T | CA6748888 | PAH | c.615G>A (p.Glu205=) c.600G>A (p.Glu200=) n.711G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102855227_102855249delinsCTCATAGCAAGCATGGGTTTTAT | CA2059449425 | PAH | c.593_615delinsATAAAACCCATGCTTGCTATGAG (p.Tyr198=) c.578_600delinsATAAAACCCATGCTTGCTATGAG (p.Tyr193=) n.689_711delinsATAAAACCCATGCTTGCTATGAG | |
| 12 | g.102855228T>A | CA386296708 | PAH | c.614A>T (p.Glu205Val) c.599A>T (p.Glu200Val) n.710A>T | |
| 12 | g.102855228T>C | CA386296709 | PAH | c.614A>G (p.Glu205Gly) c.599A>G (p.Glu200Gly) n.710A>G | ClinVar dbSNP |
| 12 | g.102855228T>G | CA229658 | PAH | c.614A>C (p.Glu205Ala) c.599A>C (p.Glu200Ala) n.710A>C | ClinVar dbSNP |
| 12 | g.102855228T= | CA2059449435 | PAH | c.614A= (p.Glu205=) c.599A= (p.Glu200=) n.710A= | |
| 12 | g.102855228_102855249del | CA229639 | PAH | c.593_614del (p.Tyr198CysfsTer?) c.578_599del (p.Tyr193CysfsTer?) n.689_710del | ClinVar dbSNP |
| 12 | g.102855228_102855250delinsTCATAGCAAGCATGGGTTTTATA | CA2059449433 | PAH | c.592_614delinsTATAAAACCCATGCTTGCTATGA (p.Tyr198=) c.577_599delinsTATAAAACCCATGCTTGCTATGA (p.Tyr193=) n.688_710delinsTATAAAACCCATGCTTGCTATGA | |
| 12 | g.102855229C>A | CA386296710 | PAH | c.613G>T (p.Glu205Ter) c.598G>T (p.Glu200Ter) n.709G>T | |
| 12 | g.102855229C= | CA2059449450 | PAH | c.613G= (p.Glu205=) c.598G= (p.Glu200=) n.709G= | |
| 12 | g.102855229C>G | CA386296711 | PAH | c.613G>C (p.Glu205Gln) c.598G>C (p.Glu200Gln) n.709G>C | |
| 12 | g.102855229C>T | CA229656 | PAH | c.613G>A (p.Glu205Lys) c.598G>A (p.Glu200Lys) n.709G>A | ClinVar dbSNP |
| 12 | g.102855229_102855252delinsCATAGCAAGCATGGGTTTTATACA | CA2059449453 | PAH | c.590_613delinsTGTATAAAACCCATGCTTGCTATG (p.Leu197=) c.575_598delinsTGTATAAAACCCATGCTTGCTATG (p.Leu192=) n.686_709delinsTGTATAAAACCCATGCTTGCTATG | |
| 12 | g.102855231_102855252del | CA229638 | PAH | c.592_613del (p.Tyr198SerfsTer?) c.577_598del (p.Tyr193SerfsTer?) n.688_709del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855230A= | CA2059449464 | PAH | c.612T= (p.Tyr204=) c.597T= (p.Tyr199=) n.708T= | |
| 12 | g.102855230A>C | CA229654 | PAH | c.612T>G (p.Tyr204Ter) c.597T>G (p.Tyr199Ter) n.708T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102855230A>G | CA267665 | PAH | c.612T>C (p.Tyr204=) c.597T>C (p.Tyr199=) n.708T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855230A>T | CA386296712 | PAH | c.612T>A (p.Tyr204Ter) c.597T>A (p.Tyr199Ter) n.708T>A | |
| 12 | g.102855231_102855253del | CA229637 | PAH | c.590_612del (p.Leu197Ter) c.575_597del (p.Leu192Ter) n.686_708del | ClinVar dbSNP |
| 12 | g.102855231T>A | CA386296713 | PAH | c.611A>T (p.Tyr204Phe) c.596A>T (p.Tyr199Phe) n.707A>T | |
| 12 | g.102855231T>C | CA229653 | PAH | c.611A>G (p.Tyr204Cys) c.596A>G (p.Tyr199Cys) n.707A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855231T>G | CA386296714 | PAH | c.611A>C (p.Tyr204Ser) c.596A>C (p.Tyr199Ser) n.707A>C | |
| 12 | g.102855231T= | CA2059449473 | PAH | c.611A= (p.Tyr204=) c.596A= (p.Tyr199=) n.707A= | |
| 12 | g.102855231dup | CA912973333 | PAH | c.611dup (p.Tyr204Ter) c.596dup (p.Tyr199Ter) n.707dup | |
| 12 | g.102855231_102855253delinsTAGCAAGCATGGGTTTTATACAA | CA2059449474 | PAH | c.589_611delinsTTGTATAAAACCCATGCTTGCTA (p.Leu197=) c.574_596delinsTTGTATAAAACCCATGCTTGCTA (p.Leu192=) n.685_707delinsTTGTATAAAACCCATGCTTGCTA | |
| 12 | g.102855232A>C | CA386296715 | PAH | c.610T>G (p.Tyr204Asp) c.595T>G (p.Tyr199Asp) n.706T>G | |
| 12 | g.102855232A>G | CA386296716 | PAH | c.610T>C (p.Tyr204His) c.595T>C (p.Tyr199His) n.706T>C | |
| 12 | g.102855232A>T | CA386296717 | PAH | c.610T>A (p.Tyr204Asn) c.595T>A (p.Tyr199Asn) n.706T>A | |
| 12 | g.102855232dup | CA658821468 | PAH | c.610dup (p.Tyr204LeufsTer2) c.595dup (p.Tyr199LeufsTer2) n.706dup | ClinVar dbSNP |
| 12 | g.102855232_102855252delinsAGCAAGCATGGGTTTTATACA | CA2059449486 | PAH | c.590_610delinsTGTATAAAACCCATGCTTGCT (p.Leu197=) c.575_595delinsTGTATAAAACCCATGCTTGCT (p.Leu192=) n.686_706delinsTGTATAAAACCCATGCTTGCT | |
| 12 | g.102855232_102855252delinsTAGCAAGCATGGGTTTTATAC | CA919161392 | PAH | c.590_610delinsGTATAAAACCCATGCTTGCTA (p.Leu197_Tyr204delinsCysIleLysProMetLeuAlaAsn) c.575_595delinsGTATAAAACCCATGCTTGCTA (p.Leu192_Tyr199delinsCysIleLysProMetLeuAlaAsn) n.686_706delinsGTATAAAACCCATGCTTGCTA | dbSNP |
| 12 | g.102855232_102855253del | CA919161391 | PAH | c.589_610del (p.Leu197MetfsTer?) c.574_595del (p.Leu192MetfsTer?) n.685_706del | dbSNP |
| 12 | g.102855233G>A | CA229649 | PAH | c.609C>T (p.Cys203=) c.594C>T (p.Cys198=) n.705C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855233G>C | CA229647 | PAH | c.609C>G (p.Cys203Trp) c.594C>G (p.Cys198Trp) n.705C>G | ClinVar dbSNP |
| 12 | g.102855233G= | CA2059449495 | PAH | c.609C= (p.Cys203=) c.594C= (p.Cys198=) n.705C= | |
| 12 | g.102855233G>T | CA386296718 | PAH | c.609C>A (p.Cys203Ter) c.594C>A (p.Cys198Ter) n.705C>A | |
| 12 | g.102855233_102855256delinsGCAAGCATGGGTTTTATACAAGGA | CA2059449497 | PAH | c.586_609delinsTCCTTGTATAAAACCCATGCTTGC (p.Ser196=) c.571_594delinsTCCTTGTATAAAACCCATGCTTGC (p.Ser191=) n.682_705delinsTCCTTGTATAAAACCCATGCTTGC | |
| 12 | g.102855234C>A | CA386296719 | PAH | c.608G>T (p.Cys203Phe) c.593G>T (p.Cys198Phe) n.704G>T | dbSNP |