| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102851686_102855316dup | CA3267343359 | PAH | c.526_912+1dup c.511_897+1dup | |
| 12 | g.102852026_102855233dup | CA3267343362 | PAH | c.611_843-268dup c.596_828-268dup | |
| 12 | g.102852811_102855310dup | CA3267343367 | PAH | c.533_842+5dup c.518_827+5dup | |
| 12 | g.102852810_102855313dup | CA3267343366 | PAH | c.529_842+5dup c.514_827+5dup | |
| 12 | g.102852810_102855316dup | CA3267343363 | PAH | c.526_842+5dup c.511_827+5dup | |
| 12 | g.102852829_102855232dup | CA3267343375 | PAH | c.613_831dup c.598_816dup | |
| 12 | g.102852829_102855317dup | CA3267343376 | PAH | c.526_829dup c.511_814dup | |
| 12 | g.102852839_102855316dup | CA3267343377 | PAH | c.527_819dup c.512_804dup | |
| 12 | g.102854491_102855291del | CA658656325 | PAH | c.553_706+647del c.538_691+647del c.553_*296del | ClinVar |
| 12 | g.102854490_102855289del | CA3260670102 | PAH | c.553_706+646del c.538_691+646del c.553_*295del | |
| 12 | g.102854490_102855289delinsATAGGTAAGTA | CA2580085705 | PAH | c.553_706+646delinsTACTTACCTAT c.538_691+646delinsTACTTACCTAT c.553_*295delinsTACTTACCTAT | ClinVar |
| 12 | g.102854491_102855289del | CA3260670103 | PAH | c.554_706+646del c.539_691+646del c.554_*295del | |
| 12 | g.102855152_102855317dup | CA3267343378 | PAH | c.527_692dup (p.Gln232SerfsTer23) c.512_677dup (p.Gln227SerfsTer23) n.623_788dup | |
| 12 | g.102855227_102855249delinsCTCATAGCAAGCATGGGTTTTAT | CA2059449425 | PAH | c.593_615delinsATAAAACCCATGCTTGCTATGAG (p.Tyr198=) c.578_600delinsATAAAACCCATGCTTGCTATGAG (p.Tyr193=) n.689_711delinsATAAAACCCATGCTTGCTATGAG | |
| 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.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.102855231_102855253del | CA229637 | PAH | c.590_612del (p.Leu197Ter) c.575_597del (p.Leu192Ter) n.686_708del | ClinVar dbSNP |
| 12 | g.102855231_102855253delinsTAGCAAGCATGGGTTTTATACAA | CA2059449474 | PAH | c.589_611delinsTTGTATAAAACCCATGCTTGCTA (p.Leu197=) c.574_596delinsTTGTATAAAACCCATGCTTGCTA (p.Leu192=) n.685_707delinsTTGTATAAAACCCATGCTTGCTA | |
| 12 | g.102855232A= | CA3192896320 | PAH | c.610T= (p.Tyr204=) c.595T= (p.Tyr199=) n.706T= | dbSNP |
| 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= | dbSNP |
| 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 |
| 12 | g.102855234C= | CA2059449505 | PAH | c.608G= (p.Cys203=) c.593G= (p.Cys198=) n.704G= | dbSNP |
| 12 | g.102855234C>G | CA386296720 | PAH | c.608G>C (p.Cys203Ser) c.593G>C (p.Cys198Ser) n.704G>C | |
| 12 | g.102855234C>T | CA229645 | PAH | c.608G>A (p.Cys203Tyr) c.593G>A (p.Cys198Tyr) n.704G>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855235_102855257del | CA229634 | PAH | c.586_608del (p.Ser196LeufsTer2) c.571_593del (p.Ser191LeufsTer2) n.682_704del | ClinVar dbSNP |
| 12 | g.102855235A= | CA2059449514 | PAH | c.607T= (p.Cys203=) c.592T= (p.Cys198=) n.703T= | dbSNP |
| 12 | g.102855235A>C | CA386296721 | PAH | c.607T>G (p.Cys203Gly) c.592T>G (p.Cys198Gly) n.703T>G | ClinVar |
| 12 | g.102855235A>G | CA386296722 | PAH | c.607T>C (p.Cys203Arg) c.592T>C (p.Cys198Arg) n.703T>C | |
| 12 | g.102855235A>T | CA386296723 | PAH | c.607T>A (p.Cys203Ser) c.592T>A (p.Cys198Ser) n.703T>A | ClinVar dbSNP |
| 12 | g.102855236dup | CA16020829 | PAH | c.607dup (p.Cys203LeufsTer3) c.592dup (p.Cys198LeufsTer3) n.703dup | ClinVar dbSNP |
| 12 | g.102855236A>C | CA481578557 | PAH | c.606T>G (p.Ala202=) c.591T>G (p.Ala197=) n.702T>G | |
| 12 | g.102855236A>G | CA481578559 | PAH | c.606T>C (p.Ala202=) c.591T>C (p.Ala197=) n.702T>C | |
| 12 | g.102855236A>T | CA481578558 | PAH | c.606T>A (p.Ala202=) c.591T>A (p.Ala197=) n.702T>A | |
| 12 | g.102855237G>A | CA16020828 | PAH | c.605C>T (p.Ala202Val) c.590C>T (p.Ala197Val) n.701C>T | ClinVar dbSNP |
| 12 | g.102855237G>C | CA386296724 | PAH | c.605C>G (p.Ala202Gly) c.590C>G (p.Ala197Gly) n.701C>G | dbSNP gnomAD v4 |
| 12 | g.102855237G= | CA3194756526 | PAH | c.605C= (p.Ala202=) c.590C= (p.Ala197=) n.701C= | dbSNP |
| 12 | g.102855237G>T | CA386296725 | PAH | c.605C>A (p.Ala202Asp) c.590C>A (p.Ala197Asp) n.701C>A |