UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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.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 |
| 12 | g.102855234C= | CA2059449505 | PAH | c.608G= (p.Cys203=) c.593G= (p.Cys198=) n.704G= | |
| 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= | |
| 12 | g.102855235A>C | CA386296721 | PAH | c.607T>G (p.Cys203Gly) c.592T>G (p.Cys198Gly) n.703T>G | |
| 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 | gnomAD v4 |
| 12 | g.102855237G>T | CA386296725 | PAH | c.605C>A (p.Ala202Asp) c.590C>A (p.Ala197Asp) n.701C>A | |
| 12 | g.102855238C>A | CA386296726 | PAH | c.604G>T (p.Ala202Ser) c.589G>T (p.Ala197Ser) n.700G>T | |
| 12 | g.102855238C>G | CA386296727 | PAH | c.604G>C (p.Ala202Pro) c.589G>C (p.Ala197Pro) n.700G>C | |
| 12 | g.102855238C>T | CA16020827 | PAH | c.604G>A (p.Ala202Thr) c.589G>A (p.Ala197Thr) n.700G>A | ClinVar gnomAD v4 COSMIC |
| 12 | g.102855239A= | CA2059449518 | PAH | c.603T= (p.His201=) c.588T= (p.His196=) n.699T= | |
| 12 | g.102855239A>C | CA16020826 | PAH | c.603T>G (p.His201Gln) c.588T>G (p.His196Gln) n.699T>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855239A>G | CA6748889 | PAH | c.603T>C (p.His201=) c.588T>C (p.His196=) n.699T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102855239A>T | CA386296728 | PAH | c.603T>A (p.His201Gln) c.588T>A (p.His196Gln) n.699T>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102855240T>A | CA386296730 | PAH | c.602A>T (p.His201Leu) c.587A>T (p.His196Leu) n.698A>T | |
| 12 | g.102855240T>C | CA229644 | PAH | c.602A>G (p.His201Arg) c.587A>G (p.His196Arg) n.698A>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855240T>G | CA386296729 | PAH | c.602A>C (p.His201Pro) c.587A>C (p.His196Pro) n.698A>C | |
| 12 | g.102855240T= | CA2059449525 | PAH | c.602A= (p.His201=) c.587A= (p.His196=) n.698A= | |
| 12 | g.102855240dup | CA2695217162 | PAH | c.602dup (p.His201GlnfsTer5) c.587dup (p.His196GlnfsTer5) n.698dup | |
| 12 | g.102855241G>A | CA229643 | PAH | c.601C>T (p.His201Tyr) c.586C>T (p.His196Tyr) n.697C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102855241G>C | CA386296731 | PAH | c.601C>G (p.His201Asp) c.586C>G (p.His196Asp) n.697C>G | |
| 12 | g.102855241G= | CA2059449533 | PAH | c.601C= (p.His201=) c.586C= (p.His196=) n.697C= | |
| 12 | g.102855241G>T | CA386296732 | PAH | c.601C>A (p.His201Asn) c.586C>A (p.His196Asn) n.697C>A | |
| 12 | g.102855242G>A | CA481578560 | PAH | c.600C>T (p.Thr200=) c.585C>T (p.Thr195=) n.696C>T | |
| 12 | g.102855242G>C | CA481578561 | PAH | c.600C>G (p.Thr200=) c.585C>G (p.Thr195=) n.696C>G | |
| 12 | g.102855242G>T | CA481578562 | PAH | c.600C>A (p.Thr200=) c.585C>A (p.Thr195=) n.696C>A | |
| 12 | g.102855243G>A | CA386296733 | PAH | c.599C>T (p.Thr200Ile) c.584C>T (p.Thr195Ile) n.695C>T | |
| 12 | g.102855243G>C | CA386296734 | PAH | c.599C>G (p.Thr200Ser) c.584C>G (p.Thr195Ser) n.695C>G | |
| 12 | g.102855243G= | CA2059449537 | PAH | c.599C= (p.Thr200=) c.584C= (p.Thr195=) n.695C= | |
| 12 | g.102855243G>T | CA16020825 | PAH | c.599C>A (p.Thr200Asn) c.584C>A (p.Thr195Asn) n.695C>A | ClinVar dbSNP |
| 12 | g.102855244T>A | CA386296735 | PAH | c.598A>T (p.Thr200Ser) c.583A>T (p.Thr195Ser) n.694A>T | |
| 12 | g.102855244T>C | CA386296736 | PAH | c.598A>G (p.Thr200Ala) c.583A>G (p.Thr195Ala) n.694A>G | |
| 12 | g.102855244T>G | CA386296737 | PAH | c.598A>C (p.Thr200Pro) c.583A>C (p.Thr195Pro) n.694A>C | |
| 12 | g.102855247dup | CA229640 | PAH | c.598dup (p.Thr200AsnfsTer6) c.583dup (p.Thr195AsnfsTer6) n.694dup | ClinVar dbSNP |
| 12 | g.102855245T>A | CA386296738 | PAH | c.597A>T (p.Lys199Asn) c.582A>T (p.Lys194Asn) n.693A>T | |
| 12 | g.102855245T>C | CA481578563 | PAH | c.597A>G (p.Lys199=) c.582A>G (p.Lys194=) n.693A>G | |
| 12 | g.102855245T>G | CA386296739 | PAH | c.597A>C (p.Lys199Asn) c.582A>C (p.Lys194Asn) n.693A>C | |
| 12 | g.102855246T>A | CA386296742 | PAH | c.596A>T (p.Lys199Ile) c.581A>T (p.Lys194Ile) n.692A>T | |
| 12 | g.102855246T>C | CA386296741 | PAH | c.596A>G (p.Lys199Arg) c.581A>G (p.Lys194Arg) n.692A>G | |
| 12 | g.102855246T>G | CA386296740 | PAH | c.596A>C (p.Lys199Thr) c.581A>C (p.Lys194Thr) n.692A>C | |
| 12 | g.102855247T>A | CA386296743 | PAH | c.595A>T (p.Lys199Ter) c.580A>T (p.Lys194Ter) n.691A>T | |
| 12 | g.102855247T>C | CA386296744 | PAH | c.595A>G (p.Lys199Glu) c.580A>G (p.Lys194Glu) n.691A>G | dbSNP COSMIC |
| 12 | g.102855247T>G | CA386296745 | PAH | c.595A>C (p.Lys199Gln) c.580A>C (p.Lys194Gln) n.691A>C | |
| 12 | g.102855247T= | CA2059449549 | PAH | c.595A= (p.Lys199=) c.580A= (p.Lys194=) n.691A= | |
| 12 | g.102855248A>C | CA16020824 | PAH | c.594T>G (p.Tyr198Ter) c.579T>G (p.Tyr193Ter) n.690T>G | ClinVar |
| 12 | g.102855248A>G | CA481578564 | PAH | c.594T>C (p.Tyr198=) c.579T>C (p.Tyr193=) n.690T>C | |
| 12 | g.102855248A>T | CA386296746 | PAH | c.594T>A (p.Tyr198Ter) c.579T>A (p.Tyr193Ter) n.690T>A | |
| 12 | g.102855249T>A | CA386296747 | PAH | c.593A>T (p.Tyr198Phe) c.578A>T (p.Tyr193Phe) n.689A>T | |
| 12 | g.102855249T>C | CA386296748 | PAH | c.593A>G (p.Tyr198Cys) c.578A>G (p.Tyr193Cys) n.689A>G | gnomAD v4 |
| 12 | g.102855249T>G | CA386296749 | PAH | c.593A>C (p.Tyr198Ser) c.578A>C (p.Tyr193Ser) n.689A>C | |
| 12 | g.102855250A>C | CA386296750 | PAH | c.592T>G (p.Tyr198Asp) c.577T>G (p.Tyr193Asp) n.688T>G | |
| 12 | g.102855250A>G | CA386296751 | PAH | c.592T>C (p.Tyr198His) c.577T>C (p.Tyr193His) n.688T>C | |
| 12 | g.102855250A>T | CA386296752 | PAH | c.592T>A (p.Tyr198Asn) c.577T>A (p.Tyr193Asn) n.688T>A | |
| 12 | g.102855251C>A | CA386296753 | PAH | c.591G>T (p.Leu197Phe) c.576G>T (p.Leu192Phe) n.687G>T | |
| 12 | g.102855251C= | CA2059449554 | PAH | c.591G= (p.Leu197=) c.576G= (p.Leu192=) n.687G= | |
| 12 | g.102855251C>G | CA267662 | PAH | c.591G>C (p.Leu197Phe) c.576G>C (p.Leu192Phe) n.687G>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855251C>T | CA481578565 | PAH | c.591G>A (p.Leu197=) c.576G>A (p.Leu192=) n.687G>A | |
| 12 | g.102855252A= | CA2059449561 | PAH | c.590T= (p.Leu197=) c.575T= (p.Leu192=) n.686T= | |
| 12 | g.102855252A>C | CA10603784 | PAH | c.590T>G (p.Leu197Trp) c.575T>G (p.Leu192Trp) n.686T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102855252A>G | CA386296755 | PAH | c.590T>C (p.Leu197Ser) c.575T>C (p.Leu192Ser) n.686T>C | |
| 12 | g.102855252A>T | CA386296754 | PAH | c.590T>A (p.Leu197Ter) c.575T>A (p.Leu192Ter) n.686T>A | ClinVar dbSNP |
| 12 | g.102855253A>C | CA386296756 | PAH | c.589T>G (p.Leu197Val) c.574T>G (p.Leu192Val) n.685T>G | |
| 12 | g.102855253A>G | CA481578566 | PAH | c.589T>C (p.Leu197=) c.574T>C (p.Leu192=) n.685T>C | |
| 12 | g.102855253A>T | CA386296757 | PAH | c.589T>A (p.Leu197Met) c.574T>A (p.Leu192Met) n.685T>A | |
| 12 | g.102855254G>A | CA6748890 | PAH | c.588C>T (p.Ser196=) c.573C>T (p.Ser191=) n.684C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855254G>C | CA481578568 | PAH | c.588C>G (p.Ser196=) c.573C>G (p.Ser191=) n.684C>G | |
| 12 | g.102855254G= | CA2059449569 | PAH | c.588C= (p.Ser196=) c.573C= (p.Ser191=) n.684C= | |
| 12 | g.102855254G>T | CA481578567 | PAH | c.588C>A (p.Ser196=) c.573C>A (p.Ser191=) n.684C>A | |
| 12 | g.102855254_102855255delinsAC | CA645584084 | PAH | c.587_588delinsGT (p.Ser196Cys) c.572_573delinsGT (p.Ser191Cys) n.683_684delinsGT | COSMIC |
| 12 | g.102855255G>A | CA242474167 | PAH | c.587C>T (p.Ser196Phe) c.572C>T (p.Ser191Phe) n.683C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.102855255G>C | CA386296758 | PAH | c.587C>G (p.Ser196Cys) c.572C>G (p.Ser191Cys) n.683C>G | gnomAD v4 |
| 12 | g.102855255G= | CA2059449574 | PAH | c.587C= (p.Ser196=) c.572C= (p.Ser191=) n.683C= | |
| 12 | g.102855255G>T | CA16020823 | PAH | c.587C>A (p.Ser196Tyr) c.572C>A (p.Ser191Tyr) n.683C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102855256A>C | CA386296759 | PAH | c.586T>G (p.Ser196Ala) c.571T>G (p.Ser191Ala) n.682T>G | |
| 12 | g.102855256A>G | CA386296760 | PAH | c.586T>C (p.Ser196Pro) c.571T>C (p.Ser191Pro) n.682T>C | |
| 12 | g.102855256A>T | CA16020822 | PAH | c.586T>A (p.Ser196Thr) c.571T>A (p.Ser191Thr) n.682T>A | ClinVar dbSNP |
| 12 | g.102855257C>A | CA386296761 | PAH | c.585G>T (p.Lys195Asn) c.570G>T (p.Lys190Asn) n.681G>T | |
| 12 | g.102855257C= | CA2059449579 | PAH | c.585G= (p.Lys195=) c.570G= (p.Lys190=) n.681G= | |
| 12 | g.102855257C>G | CA386296762 | PAH | c.585G>C (p.Lys195Asn) c.570G>C (p.Lys190Asn) n.681G>C | |
| 12 | g.102855257C>T | CA481578569 | PAH | c.585G>A (p.Lys195=) c.570G>A (p.Lys190=) n.681G>A | |
| 12 | g.102855258T>A | CA386296763 | PAH | c.584A>T (p.Lys195Met) c.569A>T (p.Lys190Met) n.680A>T | |
| 12 | g.102855258T>C | CA386296764 | PAH | c.584A>G (p.Lys195Arg) c.569A>G (p.Lys190Arg) n.680A>G | gnomAD v4 |
| 12 | g.102855258T>G | CA386296765 | PAH | c.584A>C (p.Lys195Thr) c.569A>C (p.Lys190Thr) n.680A>C | COSMIC |
| 12 | g.102855259dup | CA16020821 | PAH | c.584dup (p.Ser196ValfsTer4) c.569dup (p.Ser191ValfsTer4) n.680dup | ClinVar dbSNP |
| 12 | g.102855259T>A | CA386296767 | PAH | c.583A>T (p.Lys195Ter) c.568A>T (p.Lys190Ter) n.679A>T | |
| 12 | g.102855259T>C | CA386296768 | PAH | c.583A>G (p.Lys195Glu) c.568A>G (p.Lys190Glu) n.679A>G | |
| 12 | g.102855259T>G | CA386296766 | PAH | c.583A>C (p.Lys195Gln) c.568A>C (p.Lys190Gln) n.679A>C | |
| 12 | g.102855260C>A | CA481578570 | PAH | c.582G>T (p.Leu194=) c.567G>T (p.Leu189=) n.678G>T | |
| 12 | g.102855260C>G | CA481578571 | PAH | c.582G>C (p.Leu194=) c.567G>C (p.Leu189=) n.678G>C | |
| 12 | g.102855260C>T | CA481578572 | PAH | c.582G>A (p.Leu194=) c.567G>A (p.Leu189=) n.678G>A | COSMIC |
| 12 | g.102855260_102855262delinsCAG | CA2059449589 | PAH | c.580_582delinsCTG (p.Leu194=) c.565_567delinsCTG (p.Leu189=) n.676_678delinsCTG | |
| 12 | g.102855261A= | CA2059449598 | PAH | c.581T= (p.Leu194=) c.566T= (p.Leu189=) n.677T= | |
| 12 | g.102855261A>C | CA16020820 | PAH | c.581T>G (p.Leu194Arg) c.566T>G (p.Leu189Arg) n.677T>G | gnomAD v4 |
| 12 | g.102855261A>G | CA229633 | PAH | c.581T>C (p.Leu194Pro) c.566T>C (p.Leu189Pro) n.677T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102855261A>T | CA386296769 | PAH | c.581T>A (p.Leu194Gln) c.566T>A (p.Leu189Gln) n.677T>A | |
| 12 | g.102855263_102855264del | CA229632 | PAH | c.580_581del (p.Leu194GlufsTer5) c.565_566del (p.Leu189GlufsTer5) n.676_677del | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855262G>A | CA481578573 | PAH | c.580C>T (p.Leu194=) c.565C>T (p.Leu189=) n.676C>T | |
| 12 | g.102855262G>C | CA386296770 | PAH | c.580C>G (p.Leu194Val) c.565C>G (p.Leu189Val) n.676C>G | |
| 12 | g.102855262G>T | CA386296771 | PAH | c.580C>A (p.Leu194Met) c.565C>A (p.Leu189Met) n.676C>A | |
| 12 | g.102855262delinsTC | CA2695217163 | PAH | c.580delinsGA (p.Leu194AspfsTer6) c.565delinsGA (p.Leu189AspfsTer6) n.676delinsGA | |
| 12 | g.102855264_102855270del | CA2499221403 | PAH | c.574_580del (p.Lys192Ter) c.559_565del (p.Lys187Ter) n.670_676del | ClinVar dbSNP |
| 12 | g.102855263A= | CA2059449601 | PAH | c.579T= (p.Thr193=) c.564T= (p.Thr188=) n.675T= | |
| 12 | g.102855263A>C | CA481578576 | PAH | c.579T>G (p.Thr193=) c.564T>G (p.Thr188=) n.675T>G | |
| 12 | g.102855263A>G | CA6748891 | PAH | c.579T>C (p.Thr193=) c.564T>C (p.Thr188=) n.675T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102855263A>T | CA481578578 | PAH | c.579T>A (p.Thr193=) c.564T>A (p.Thr188=) n.675T>A | |
| 12 | g.102855264G>A | CA16020819 | PAH | c.578C>T (p.Thr193Ile) c.563C>T (p.Thr188Ile) n.674C>T | ClinVar gnomAD v4 |
| 12 | g.102855264G>C | CA386296772 | PAH | c.578C>G (p.Thr193Ser) c.563C>G (p.Thr188Ser) n.674C>G | |
| 12 | g.102855264G>T | CA386296774 | PAH | c.578C>A (p.Thr193Asn) c.563C>A (p.Thr188Asn) n.674C>A | |
| 12 | g.102855265T>A | CA386296776 | PAH | c.577A>T (p.Thr193Ser) c.562A>T (p.Thr188Ser) n.673A>T | dbSNP |
| 12 | g.102855265T>C | CA386296778 | PAH | c.577A>G (p.Thr193Ala) c.562A>G (p.Thr188Ala) n.673A>G | |
| 12 | g.102855265T>G | CA386296779 | PAH | c.577A>C (p.Thr193Pro) c.562A>C (p.Thr188Pro) n.673A>C | |
| 12 | g.102855265T= | CA2059449606 | PAH | c.577A= (p.Thr193=) c.562A= (p.Thr188=) n.673A= | |
| 12 | g.102855266C>A | CA386296781 | PAH | c.576G>T (p.Lys192Asn) c.561G>T (p.Lys187Asn) n.672G>T | COSMIC |
| 12 | g.102855266C= | CA2059449610 | PAH | c.576G= (p.Lys192=) c.561G= (p.Lys187=) n.672G= | |
| 12 | g.102855266C>G | CA386296782 | PAH | c.576G>C (p.Lys192Asn) c.561G>C (p.Lys187Asn) n.672G>C | dbSNP gnomAD v4 |
| 12 | g.102855266C>T | CA481578580 | PAH | c.576G>A (p.Lys192=) c.561G>A (p.Lys187=) n.672G>A | |
| 12 | g.102855267T>A | CA386296784 | PAH | c.575A>T (p.Lys192Met) c.560A>T (p.Lys187Met) n.671A>T | |
| 12 | g.102855267T>C | CA386296786 | PAH | c.575A>G (p.Lys192Arg) c.560A>G (p.Lys187Arg) n.671A>G | gnomAD v4 |
| 12 | g.102855267T>G | CA386296788 | PAH | c.575A>C (p.Lys192Thr) c.560A>C (p.Lys187Thr) n.671A>C | |
| 12 | g.102855268T>A | CA386296790 | PAH | c.574A>T (p.Lys192Ter) c.559A>T (p.Lys187Ter) n.670A>T | |
| 12 | g.102855268T>C | CA242474187 | PAH | c.574A>G (p.Lys192Glu) c.559A>G (p.Lys187Glu) n.670A>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855268T>G | CA386296793 | PAH | c.574A>C (p.Lys192Gln) c.559A>C (p.Lys187Gln) n.670A>C | |
| 12 | g.102855268T= | CA2059449613 | PAH | c.574A= (p.Lys192=) c.559A= (p.Lys187=) n.670A= | |
| 12 | g.102855269G>A | CA481578582 | PAH | c.573C>T (p.Phe191=) c.558C>T (p.Phe186=) n.669C>T | |
| 12 | g.102855269G>C | CA386296795 | PAH | c.573C>G (p.Phe191Leu) c.558C>G (p.Phe186Leu) n.669C>G | gnomAD v4 |
| 12 | g.102855269G>T | CA386296797 | PAH | c.573C>A (p.Phe191Leu) c.558C>A (p.Phe186Leu) n.669C>A | gnomAD v4 |
| 12 | g.102855270A>C | CA386296800 | PAH | c.572T>G (p.Phe191Cys) c.557T>G (p.Phe186Cys) n.668T>G | |
| 12 | g.102855270A>G | CA386296801 | PAH | c.572T>C (p.Phe191Ser) c.557T>C (p.Phe186Ser) n.668T>C | |
| 12 | g.102855270A>T | CA386296803 | PAH | c.572T>A (p.Phe191Tyr) c.557T>A (p.Phe186Tyr) n.668T>A | |
| 12 | g.102855271A>C | CA386296808 | PAH | c.571T>G (p.Phe191Val) c.556T>G (p.Phe186Val) n.667T>G | |
| 12 | g.102855271A>G | CA386296807 | PAH | c.571T>C (p.Phe191Leu) c.556T>C (p.Phe186Leu) n.667T>C | |
| 12 | g.102855271A>T | CA386296805 | PAH | c.571T>A (p.Phe191Ile) c.556T>A (p.Phe186Ile) n.667T>A | |
| 12 | g.102855272C>A | CA481578586 | PAH | c.570G>T (p.Val190=) c.555G>T (p.Val185=) n.666G>T | |
| 12 | g.102855272C>G | CA481578584 | PAH | c.570G>C (p.Val190=) c.555G>C (p.Val185=) n.666G>C | COSMIC |
| 12 | g.102855272C>T | CA481578585 | PAH | c.570G>A (p.Val190=) c.555G>A (p.Val185=) n.666G>A | ClinVar dbSNP |
| 12 | g.102855273A= | CA2059449617 | PAH | c.569T= (p.Val190=) c.554T= (p.Val185=) n.665T= | |
| 12 | g.102855273A>C | CA16020818 | PAH | c.569T>G (p.Val190Gly) c.554T>G (p.Val185Gly) n.665T>G | |
| 12 | g.102855273A>G | CA229631 | PAH | c.569T>C (p.Val190Ala) c.554T>C (p.Val185Ala) n.665T>C | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 12 | g.102855273A>T | CA386296811 | PAH | c.569T>A (p.Val190Glu) c.554T>A (p.Val185Glu) n.665T>A | gnomAD v4 |
| 12 | g.102855274C>A | CA386296815 | PAH | c.568G>T (p.Val190Leu) c.553G>T (p.Val185Leu) n.664G>T | |
| 12 | g.102855274C= | CA2059449624 | PAH | c.568G= (p.Val190=) c.553G= (p.Val185=) n.664G= | |
| 12 | g.102855274C>G | CA386296818 | PAH | c.568G>C (p.Val190Leu) c.553G>C (p.Val185Leu) n.664G>C | |
| 12 | g.102855274C>T | CA267660 | PAH | c.568G>A (p.Val190Met) c.553G>A (p.Val185Met) n.664G>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855275T>A | CA481578588 | PAH | c.567A>T (p.Thr189=) c.552A>T (p.Thr184=) n.663A>T | gnomAD v4 |
| 12 | g.102855275T>C | CA481578589 | PAH | c.567A>G (p.Thr189=) c.552A>G (p.Thr184=) n.663A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102855275T>G | CA481578590 | PAH | c.567A>C (p.Thr189=) c.552A>C (p.Thr184=) n.663A>C | |
| 12 | g.102855275T= | CA2059449628 | PAH | c.567A= (p.Thr189=) c.552A= (p.Thr184=) n.663A= | |
| 12 | g.102855276G>A | CA386296819 | PAH | c.566C>T (p.Thr189Ile) c.551C>T (p.Thr184Ile) n.662C>T | COSMIC |
| 12 | g.102855276G>C | CA386296823 | PAH | c.566C>G (p.Thr189Arg) c.551C>G (p.Thr184Arg) n.662C>G | ClinVar dbSNP |
| 12 | g.102855276G= | CA2059449633 | PAH | c.566C= (p.Thr189=) c.551C= (p.Thr184=) n.662C= | |
| 12 | g.102855276G>T | CA386296821 | PAH | c.566C>A (p.Thr189Lys) c.551C>A (p.Thr184Lys) n.662C>A | |
| 12 | g.102855277T>A | CA386296825 | PAH | c.565A>T (p.Thr189Ser) c.550A>T (p.Thr184Ser) n.661A>T | |
| 12 | g.102855277T>C | CA386296829 | PAH | c.565A>G (p.Thr189Ala) c.550A>G (p.Thr184Ala) n.661A>G | |
| 12 | g.102855277T>G | CA386296827 | PAH | c.565A>C (p.Thr189Pro) c.550A>C (p.Thr184Pro) n.661A>C | |
| 12 | g.102855278G>A | CA6748892 | PAH | c.564C>T (p.Gly188=) c.549C>T (p.Gly183=) n.660C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102855278G>C | CA481578594 | PAH | c.564C>G (p.Gly188=) c.549C>G (p.Gly183=) n.660C>G | |
| 12 | g.102855278G= | CA2059449644 | PAH | c.564C= (p.Gly188=) c.549C= (p.Gly183=) n.660C= | |
| 12 | g.102855278G>T | CA481578593 | PAH | c.564C>A (p.Gly188=) c.549C>A (p.Gly183=) n.660C>A | gnomAD v4 |
| 12 | g.102855278_102855279delinsGC | CA2059449640 | PAH | c.563_564delinsGC (p.Gly188=) c.548_549delinsGC (p.Gly183=) n.659_660delinsGC | |
| 12 | g.102855279C>A | CA386296833 | PAH | c.563G>T (p.Gly188Val) c.548G>T (p.Gly183Val) n.659G>T n.584G>T | ClinVar dbSNP |
| 12 | g.102855279C= | CA2059449657 | PAH | c.563G= (p.Gly188=) c.548G= (p.Gly183=) n.659G= n.584G= | |
| 12 | g.102855279C>G | CA6748893 | PAH | c.563G>C (p.Gly188Ala) c.548G>C (p.Gly183Ala) n.659G>C n.584G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102855279C>T | CA229628 | PAH | c.563G>A (p.Gly188Asp) c.548G>A (p.Gly183Asp) n.659G>A n.584G>A | ClinVar dbSNP |
| 12 | g.102855282del | CA229630 | PAH | c.563del (p.Gly188AlafsTer7) c.548del (p.Gly183AlafsTer7) n.659del n.584del | ClinVar dbSNP |
| 12 | g.102855280C>A | CA386296843 | PAH | c.562G>T (p.Gly188Cys) c.547G>T (p.Gly183Cys) n.658G>T n.583G>T | |
| 12 | g.102855280C>G | CA386296840 | PAH | c.562G>C (p.Gly188Arg) c.547G>C (p.Gly183Arg) n.658G>C n.583G>C | |
| 12 | g.102855280C>T | CA386296839 | PAH | c.562G>A (p.Gly188Ser) c.547G>A (p.Gly183Ser) n.658G>A n.583G>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855281C>A | CA386296845 | PAH | c.561G>T (p.Trp187Cys) c.546G>T (p.Trp182Cys) n.657G>T n.582G>T | |
| 12 | g.102855281C= | CA2059449667 | PAH | c.561G= (p.Trp187=) c.546G= (p.Trp182=) n.657G= n.582G= | |
| 12 | g.102855281C>G | CA229626 | PAH | c.561G>C (p.Trp187Cys) c.546G>C (p.Trp182Cys) n.657G>C n.582G>C | ClinVar dbSNP |
| 12 | g.102855281C>T | CA229624 | PAH | c.561G>A (p.Trp187Ter) c.546G>A (p.Trp182Ter) n.657G>A n.582G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855282C>A | CA386296850 | PAH | c.560G>T (p.Trp187Leu) c.545G>T (p.Trp182Leu) n.656G>T n.581G>T | |
| 12 | g.102855282C>G | CA386296852 | PAH | c.560G>C (p.Trp187Ser) c.545G>C (p.Trp182Ser) n.656G>C n.581G>C | |
| 12 | g.102855282C>T | CA16020817 | PAH | c.560G>A (p.Trp187Ter) c.545G>A (p.Trp182Ter) n.656G>A n.581G>A | |
| 12 | g.102855282_102855284delinsCAT | CA2059449676 | PAH | c.558_560delinsATG (p.Thr186=) c.543_545delinsATG (p.Thr181=) n.654_656delinsATG n.579_581delinsATG | |
| 12 | g.102855283A= | CA2059449687 | PAH | c.559T= (p.Trp187=) c.544T= (p.Trp182=) n.655T= n.580T= | |
| 12 | g.102855283A>C | CA386296858 | PAH | c.559T>G (p.Trp187Gly) c.544T>G (p.Trp182Gly) n.655T>G n.580T>G | |
| 12 | g.102855283A>G | CA229622 | PAH | c.559T>C (p.Trp187Arg) c.544T>C (p.Trp182Arg) n.655T>C n.580T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102855283A>T | CA386296857 | PAH | c.559T>A (p.Trp187Arg) c.544T>A (p.Trp182Arg) n.655T>A n.580T>A | |
| 12 | g.102855283_102855284del | CA229621 | PAH | c.558_559del (p.Trp187GlyfsTer12) c.543_544del (p.Trp182GlyfsTer12) n.654_655del n.579_580del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855284del | CA16020816 | PAH | c.558del (p.Trp187GlyfsTer8) c.543del (p.Trp182GlyfsTer8) n.654del n.579del | |
| 12 | g.102855284T>A | CA481578598 | PAH | c.558A>T (p.Thr186=) c.543A>T (p.Thr181=) n.654A>T n.579A>T | gnomAD v4 |
| 12 | g.102855284T>C | CA481578599 | PAH | c.558A>G (p.Thr186=) c.543A>G (p.Thr181=) n.654A>G n.579A>G | |
| 12 | g.102855284T>G | CA481578600 | PAH | c.558A>C (p.Thr186=) c.543A>C (p.Thr181=) n.654A>C n.579A>C | |
| 12 | g.102855285G>A | CA386296861 | PAH | c.557C>T (p.Thr186Ile) c.542C>T (p.Thr181Ile) n.653C>T n.578C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102855285G>C | CA386296863 | PAH | c.557C>G (p.Thr186Arg) c.542C>G (p.Thr181Arg) n.653C>G n.578C>G | gnomAD v4 |
| 12 | g.102855285G= | CA2059449692 | PAH | c.557C= (p.Thr186=) c.542C= (p.Thr181=) n.653C= n.578C= | |
| 12 | g.102855285G>T | CA386296865 | PAH | c.557C>A (p.Thr186Lys) c.542C>A (p.Thr181Lys) n.653C>A n.578C>A | |
| 12 | g.102855285_102855286delinsGT | CA2059449689 | PAH | c.556_557delinsAC (p.Thr186=) c.541_542delinsAC (p.Thr181=) n.652_653delinsAC n.577_578delinsAC | |
| 12 | g.102855286T>A | CA386296868 | PAH | c.556A>T (p.Thr186Ser) c.541A>T (p.Thr181Ser) n.652A>T n.577A>T | |
| 12 | g.102855286T>C | CA386296870 | PAH | c.556A>G (p.Thr186Ala) c.541A>G (p.Thr181Ala) n.652A>G n.577A>G | ClinVar |
| 12 | g.102855286T>G | CA386296871 | PAH | c.556A>C (p.Thr186Pro) c.541A>C (p.Thr181Pro) n.652A>C n.577A>C | COSMIC |
| 12 | g.102855289del | CA229620 | PAH | c.556del (p.Thr186HisfsTer9) c.541del (p.Thr181HisfsTer9) n.652del n.577del | ClinVar dbSNP |
| 12 | g.102855287T>A | CA386296874 | PAH | c.555A>T (p.Lys185Asn) c.540A>T (p.Lys180Asn) n.651A>T n.576A>T | |
| 12 | g.102855287T>C | CA481578602 | PAH | c.555A>G (p.Lys185=) c.540A>G (p.Lys180=) n.651A>G n.576A>G | |
| 12 | g.102855287T>G | CA386296876 | PAH | c.555A>C (p.Lys185Asn) c.540A>C (p.Lys180Asn) n.651A>C n.576A>C | |
| 12 | g.102855288T>A | CA386296879 | PAH | c.554A>T (p.Lys185Ile) c.539A>T (p.Lys180Ile) n.650A>T n.575A>T | |
| 12 | g.102855288T>C | CA386296880 | PAH | c.554A>G (p.Lys185Arg) c.539A>G (p.Lys180Arg) n.650A>G n.575A>G | |
| 12 | g.102855288T>G | CA386296882 | PAH | c.554A>C (p.Lys185Thr) c.539A>C (p.Lys180Thr) n.650A>C n.575A>C | |
| 12 | g.102855290_102855292del | CA2697551521 | PAH | c.552_554del (p.Lys185del) c.537_539del (p.Lys180del) n.648_650del n.573_575del | ClinVar |
| 12 | g.102855289T>A | CA386296885 | PAH | c.553A>T (p.Lys185Ter) c.538A>T (p.Lys180Ter) n.649A>T n.574A>T | |
| 12 | g.102855289T>C | CA386296889 | PAH | c.553A>G (p.Lys185Glu) c.538A>G (p.Lys180Glu) n.649A>G n.574A>G | ClinVar gnomAD v4 |
| 12 | g.102855289T>G | CA386296887 | PAH | c.553A>C (p.Lys185Gln) c.538A>C (p.Lys180Gln) n.649A>C n.574A>C | |
| 12 | g.102855290C>A | CA386296891 | PAH | c.552G>T (p.Lys184Asn) c.537G>T (p.Lys179Asn) n.648G>T n.573G>T | |
| 12 | g.102855290C>G | CA386296893 | PAH | c.552G>C (p.Lys184Asn) c.537G>C (p.Lys179Asn) n.648G>C n.573G>C | |
| 12 | g.102855290C>T | CA481578605 | PAH | c.552G>A (p.Lys184=) c.537G>A (p.Lys179=) n.648G>A n.573G>A | |
| 12 | g.102855290_102855291delinsCT | CA2059449698 | PAH | c.551_552delinsAG (p.Lys184=) c.536_537delinsAG (p.Lys179=) n.647_648delinsAG n.572_573delinsAG | |
| 12 | g.102855291T>A | CA386296895 | PAH | c.551A>T (p.Lys184Met) c.536A>T (p.Lys179Met) n.647A>T n.572A>T | |
| 12 | g.102855291T>C | CA386296896 | PAH | c.551A>G (p.Lys184Arg) c.536A>G (p.Lys179Arg) n.647A>G n.572A>G | |
| 12 | g.102855291T>G | CA386296899 | PAH | c.551A>C (p.Lys184Thr) c.536A>C (p.Lys179Thr) n.647A>C n.572A>C | |
| 12 | g.102855294del | CA16020815 | PAH | c.551del (p.Lys184ArgfsTer11) c.536del (p.Lys179ArgfsTer11) n.647del n.572del | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855292T>A | CA386296906 | PAH | c.550A>T (p.Lys184Ter) c.535A>T (p.Lys179Ter) n.646A>T n.571A>T | |
| 12 | g.102855292T>C | CA386296904 | PAH | c.550A>G (p.Lys184Glu) c.535A>G (p.Lys179Glu) n.646A>G n.571A>G | |
| 12 | g.102855292T>G | CA386296902 | PAH | c.550A>C (p.Lys184Gln) c.535A>C (p.Lys179Gln) n.646A>C n.571A>C | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102855292T= | CA2059449707 | PAH | c.550A= (p.Lys184=) c.535A= (p.Lys179=) n.646A= n.571A= | |
| 12 | g.102855293T>A | CA386296908 | PAH | c.549A>T (p.Glu183Asp) c.534A>T (p.Glu178Asp) n.645A>T n.570A>T | |
| 12 | g.102855293T>C | CA481578606 | PAH | c.549A>G (p.Glu183=) c.534A>G (p.Glu178=) n.645A>G n.570A>G | |
| 12 | g.102855293T>G | CA386296910 | PAH | c.549A>C (p.Glu183Asp) c.534A>C (p.Glu178Asp) n.645A>C n.570A>C | |
| 12 | g.102855294T>A | CA386296913 | PAH | c.548A>T (p.Glu183Val) c.533A>T (p.Glu178Val) n.644A>T n.569A>T | |
| 12 | g.102855294T>C | CA16020814 | PAH | c.548A>G (p.Glu183Gly) c.533A>G (p.Glu178Gly) n.644A>G n.569A>G | dbSNP gnomAD v4 |
| 12 | g.102855294T>G | CA386296916 | PAH | c.548A>C (p.Glu183Ala) c.533A>C (p.Glu178Ala) n.644A>C n.569A>C | |
| 12 | g.102855294T= | CA2059449721 | PAH | c.548A= (p.Glu183=) c.533A= (p.Glu178=) n.644A= n.569A= | |
| 12 | g.102855294_102855295delinsAA | CA267658 | PAH | c.547_548delinsTT (p.Glu183Leu) c.532_533delinsTT (p.Glu178Leu) n.643_644delinsTT n.568_569delinsTT | ClinVar dbSNP |
| 12 | g.102855294_102855295delinsTC | CA2059449718 | PAH | c.547_548delinsGA (p.Glu183=) c.532_533delinsGA (p.Glu178=) n.643_644delinsGA n.568_569delinsGA | |
| 12 | g.102855295C>A | CA386296920 | PAH | c.547G>T (p.Glu183Ter) c.532G>T (p.Glu178Ter) n.643G>T n.568G>T | ClinVar dbSNP |
| 12 | g.102855295C= | CA2059449735 | PAH | c.547G= (p.Glu183=) c.532G= (p.Glu178=) n.643G= n.568G= | |
| 12 | g.102855295C>G | CA229619 | PAH | c.547G>C (p.Glu183Gln) c.532G>C (p.Glu178Gln) n.643G>C n.568G>C | ClinVar dbSNP |
| 12 | g.102855295C>T | CA6748894 | PAH | c.547G>A (p.Glu183Lys) c.532G>A (p.Glu178Lys) n.643G>A n.568G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102855296T>A | CA386296924 | PAH | c.546A>T (p.Glu182Asp) c.531A>T (p.Glu177Asp) n.642A>T n.567A>T | |
| 12 | g.102855296T>C | CA481578609 | PAH | c.546A>G (p.Glu182=) c.531A>G (p.Glu177=) n.642A>G n.567A>G | |
| 12 | g.102855296T>G | CA386296926 | PAH | c.546A>C (p.Glu182Asp) c.531A>C (p.Glu177Asp) n.642A>C n.567A>C | |
| 12 | g.102855296_102855299delinsTTCC | CA2059449741 | PAH | c.543_546delinsGGAA (p.Glu181=) c.528_531delinsGGAA (p.Glu176=) n.639_642delinsGGAA n.564_567delinsGGAA | |
| 12 | g.102855297T>A | CA386296928 | PAH | c.545A>T (p.Glu182Val) c.530A>T (p.Glu177Val) n.641A>T n.566A>T | |
| 12 | g.102855297T>C | CA229617 | PAH | c.545A>G (p.Glu182Gly) c.530A>G (p.Glu177Gly) n.641A>G n.566A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.102855297T>G | CA386296931 | PAH | c.545A>C (p.Glu182Ala) c.530A>C (p.Glu177Ala) n.641A>C n.566A>C | |
| 12 | g.102855297T= | CA2059449749 | PAH | c.545A= (p.Glu182=) c.530A= (p.Glu177=) n.641A= n.566A= | |
| 12 | g.102855300_102855302del | CA1139532590 | PAH | c.543_545del (p.Glu182del) c.528_530del (p.Glu177del) n.639_641del n.564_566del | ClinVar dbSNP |
| 12 | g.102855298C>A | CA386296933 | PAH | c.544G>T (p.Glu182Ter) c.529G>T (p.Glu177Ter) n.640G>T n.565G>T | |
| 12 | g.102855298C>G | CA386296935 | PAH | c.544G>C (p.Glu182Gln) c.529G>C (p.Glu177Gln) n.640G>C n.565G>C | |
| 12 | g.102855298C>T | CA16020813 | PAH | c.544G>A (p.Glu182Lys) c.529G>A (p.Glu177Lys) n.640G>A n.565G>A | ClinVar dbSNP COSMIC |
| 12 | g.102855298_102855302del | CA2695217165 | PAH | c.540_544del (p.Met180IlefsTer18) c.525_529del (p.Met175IlefsTer18) n.636_640del n.561_565del | |
| 12 | g.102855299_102855302del | CA2695217164 | PAH | c.541_544del (p.Glu181LysfsTer13) c.526_529del (p.Glu176LysfsTer13) n.637_640del n.562_565del | |
| 12 | g.102855299C>A | CA386296938 | PAH | c.543G>T (p.Glu181Asp) c.528G>T (p.Glu176Asp) n.639G>T n.564G>T | |
| 12 | g.102855299C>G | CA386296940 | PAH | c.543G>C (p.Glu181Asp) c.528G>C (p.Glu176Asp) n.639G>C n.564G>C | |
| 12 | g.102855299C>T | CA481578613 | PAH | c.543G>A (p.Glu181=) c.528G>A (p.Glu176=) n.639G>A n.564G>A | ClinVar |
| 12 | g.102855300T>A | CA386296942 | PAH | c.542A>T (p.Glu181Val) c.527A>T (p.Glu176Val) n.638A>T n.563A>T | |
| 12 | g.102855300T>C | CA386296946 | PAH | c.542A>G (p.Glu181Gly) c.527A>G (p.Glu176Gly) n.638A>G n.563A>G | gnomAD v4 |
| 12 | g.102855300T>G | CA386296944 | PAH | c.542A>C (p.Glu181Ala) c.527A>C (p.Glu176Ala) n.638A>C n.563A>C | |
| 12 | g.102855301C>A | CA386296948 | PAH | c.541G>T (p.Glu181Ter) c.526G>T (p.Glu176Ter) n.637G>T n.562G>T | |
| 12 | g.102855301C= | CA2059449761 | PAH | c.541G= (p.Glu181=) c.526G= (p.Glu176=) n.637G= n.562G= | |
| 12 | g.102855301C>G | CA386296952 | PAH | c.541G>C (p.Glu181Gln) c.526G>C (p.Glu176Gln) n.637G>C n.562G>C | |
| 12 | g.102855301C>T | CA386296950 | PAH | c.541G>A (p.Glu181Lys) c.526G>A (p.Glu176Lys) n.637G>A n.562G>A | dbSNP COSMIC |
| 12 | g.102855302C>A | CA386296954 | PAH | c.540G>T (p.Met180Ile) c.525G>T (p.Met175Ile) n.636G>T n.561G>T | |
| 12 | g.102855302C>G | CA386296955 | PAH | c.540G>C (p.Met180Ile) c.525G>C (p.Met175Ile) n.636G>C n.561G>C | |
| 12 | g.102855302C>T | CA386296956 | PAH | c.540G>A (p.Met180Ile) c.525G>A (p.Met175Ile) n.636G>A n.561G>A | |
| 12 | g.102855303A= | CA2059449766 | PAH | c.539T= (p.Met180=) c.524T= (p.Met175=) n.635T= n.560T= | |
| 12 | g.102855303A>C | CA6748895 | PAH | c.539T>G (p.Met180Arg) c.524T>G (p.Met175Arg) n.635T>G n.560T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102855303A>G | CA386296959 | PAH | c.539T>C (p.Met180Thr) c.524T>C (p.Met175Thr) n.635T>C n.560T>C | |
| 12 | g.102855303A>T | CA386296961 | PAH | c.539T>A (p.Met180Lys) c.524T>A (p.Met175Lys) n.635T>A n.560T>A | |
| 12 | g.102855304T>A | CA386296964 | PAH | c.538A>T (p.Met180Leu) c.523A>T (p.Met175Leu) n.634A>T n.559A>T | |
| 12 | g.102855304T>C | CA386296965 | PAH | c.538A>G (p.Met180Val) c.523A>G (p.Met175Val) n.634A>G n.559A>G | ClinVar dbSNP |
| 12 | g.102855304T>G | CA386296966 | PAH | c.538A>C (p.Met180Leu) c.523A>C (p.Met175Leu) n.634A>C n.559A>C | gnomAD v4 |
| 12 | g.102855304T= | CA2059449773 | PAH | c.538A= (p.Met180=) c.523A= (p.Met175=) n.634A= n.559A= | |
| 12 | g.102855305G>A | CA481578616 | PAH | c.537C>T (p.Tyr179=) c.522C>T (p.Tyr174=) n.633C>T n.558C>T | gnomAD v4 |
| 12 | g.102855305G>C | CA386296969 | PAH | c.537C>G (p.Tyr179Ter) c.522C>G (p.Tyr174Ter) n.633C>G n.558C>G | |
| 12 | g.102855305G>T | CA386296970 | PAH | c.537C>A (p.Tyr179Ter) c.522C>A (p.Tyr174Ter) n.633C>A n.558C>A | |
| 12 | g.102855306T>A | CA386296977 | PAH | c.536A>T (p.Tyr179Phe) c.521A>T (p.Tyr174Phe) n.632A>T n.557A>T | |
| 12 | g.102855306T>C | CA386296975 | PAH | c.536A>G (p.Tyr179Cys) c.521A>G (p.Tyr174Cys) n.632A>G n.557A>G | |
| 12 | g.102855306T>G | CA386296973 | PAH | c.536A>C (p.Tyr179Ser) c.521A>C (p.Tyr174Ser) n.632A>C n.557A>C | |
| 12 | g.102855307_102855308del | CA2580085716 | PAH | c.535_536del (p.Tyr179HisfsTer20) c.520_521del (p.Tyr174HisfsTer20) n.631_632del n.556_557del | ClinVar |
| 12 | g.102855307A= | CA2059449787 | PAH | c.535T= (p.Tyr179=) c.520T= (p.Tyr174=) n.631T= n.556T= | |
| 12 | g.102855307A>C | CA386296979 | PAH | c.535T>G (p.Tyr179Asp) c.520T>G (p.Tyr174Asp) n.631T>G n.556T>G | |
| 12 | g.102855307A>G | CA229615 | PAH | c.535T>C (p.Tyr179His) c.520T>C (p.Tyr174His) n.631T>C n.556T>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855307A>T | CA229613 | PAH | c.535T>A (p.Tyr179Asn) c.520T>A (p.Tyr174Asn) n.631T>A n.556T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102855308T>A | CA386296984 | PAH | c.534A>T (p.Glu178Asp) c.519A>T (p.Glu173Asp) n.630A>T n.555A>T | |
| 12 | g.102855308T>C | CA481578621 | PAH | c.534A>G (p.Glu178=) c.519A>G (p.Glu173=) n.630A>G n.555A>G | |
| 12 | g.102855308T>G | CA386296986 | PAH | c.534A>C (p.Glu178Asp) c.519A>C (p.Glu173Asp) n.630A>C n.555A>C | |
| 12 | g.102855309T>A | CA229611 | PAH | c.533A>T (p.Glu178Val) c.518A>T (p.Glu173Val) n.629A>T n.554A>T | ClinVar dbSNP |
| 12 | g.102855309T>C | CA273110 | PAH | c.533A>G (p.Glu178Gly) c.518A>G (p.Glu173Gly) n.629A>G n.554A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855309T>G | CA386296990 | PAH | c.533A>C (p.Glu178Ala) c.518A>C (p.Glu173Ala) n.629A>C n.554A>C | |
| 12 | g.102855309T= | CA2059449797 | PAH | c.533A= (p.Glu178=) c.518A= (p.Glu173=) n.629A= n.554A= | |
| 12 | g.102855310C>A | CA386296993 | PAH | c.532G>T (p.Glu178Ter) c.517G>T (p.Glu173Ter) n.628G>T n.553G>T | |
| 12 | g.102855310C= | CA2059449802 | PAH | c.532G= (p.Glu178=) c.517G= (p.Glu173=) n.628G= n.553G= | |
| 12 | g.102855310C>G | CA386296995 | PAH | c.532G>C (p.Glu178Gln) c.517G>C (p.Glu173Gln) n.628G>C n.553G>C | |
| 12 | g.102855310C>T | CA16020812 | PAH | c.532G>A (p.Glu178Lys) c.517G>A (p.Glu173Lys) n.628G>A n.553G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855311C>A | CA481578623 | PAH | c.531G>T (p.Val177=) c.516G>T (p.Val172=) n.627G>T n.552G>T | |
| 12 | g.102855311C>G | CA481578624 | PAH | c.531G>C (p.Val177=) c.516G>C (p.Val172=) n.627G>C n.552G>C | |
| 12 | g.102855311C>T | CA481578625 | PAH | c.531G>A (p.Val177=) c.516G>A (p.Val172=) n.627G>A n.552G>A | COSMIC |
| 12 | g.102855312A>C | CA386297000 | PAH | c.530T>G (p.Val177Gly) c.515T>G (p.Val172Gly) n.626T>G n.551T>G | |
| 12 | g.102855312A>G | CA16020811 | PAH | c.530T>C (p.Val177Ala) c.515T>C (p.Val172Ala) n.626T>C n.551T>C | |
| 12 | g.102855312A>T | CA386296998 | PAH | c.530T>A (p.Val177Glu) c.515T>A (p.Val172Glu) n.626T>A n.551T>A | |
| 12 | g.102855312_102855313insTGGTGTCCACGCGTGCCACAGTAATCTCTGCGCCCAGTTTCTTTGCGAGCATACAACTTGTCATGTTGCGGCTCTCGTCGGGGGTCACCGCCACGAAGAGTTTGCATTGTTCTACGCCGATTTCTTT | CA2554068227 | PAH | c.529_530insAAAGAAATCGGCGTAGAACAATGCAAACTCTTCGTGGCGGTGACCCCCGACGAGAGCCGCAACATGACAAGTTGTATGCTCGCAAAGAAACTGGGCGCAGAGATTACTGTGGCACGCGTGGACACCA (p.Val177GlufsTer65) c.514_515insAAAGAAATCGGCGTAGAACAATGCAAACTCTTCGTGGCGGTGACCCCCGACGAGAGCCGCAACATGACAAGTTGTATGCTCGCAAAGAAACTGGGCGCAGAGATTACTGTGGCACGCGTGGACACCA (p.Val172GlufsTer65) n.625_626insAAAGAAATCGGCGTAGAACAATGCAAACTCTTCGTGGCGGTGACCCCCGACGAGAGCCGCAACATGACAAGTTGTATGCTCGCAAAGAAACTGGGCGCAGAGATTACTGTGGCACGCGTGGACACCA n.550_551insAAAGAAATCGGCGTAGAACAATGCAAACTCTTCGTGGCGGTGACCCCCGACGAGAGCCGCAACATGACAAGTTGTATGCTCGCAAAGAAACTGGGCGCAGAGATTACTGTGGCACGCGTGGACACCA | |
| 12 | g.102855313C>A | CA386297003 | PAH | c.529G>T (p.Val177Leu) c.514G>T (p.Val172Leu) n.625G>T n.550G>T | |
| 12 | g.102855313C= | CA2059449810 | PAH | c.529G= (p.Val177=) c.514G= (p.Val172=) n.625G= n.550G= | |
| 12 | g.102855313C>G | CA229610 | PAH | c.529G>C (p.Val177Leu) c.514G>C (p.Val172Leu) n.625G>C n.550G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855313C>T | CA229609 | PAH | c.529G>A (p.Val177Met) c.514G>A (p.Val172Met) n.625G>A n.550G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855314T>A | CA481578626 | PAH | c.528A>T (p.Arg176=) c.513A>T (p.Arg171=) n.624A>T n.549A>T | |
| 12 | g.102855314T>C | CA481578628 | PAH | c.528A>G (p.Arg176=) c.513A>G (p.Arg171=) n.624A>G n.549A>G | |
| 12 | g.102855314T>G | CA481578627 | PAH | c.528A>C (p.Arg176=) c.513A>C (p.Arg171=) n.624A>C n.549A>C | |
| 12 | g.102855315C>A | CA114371 | PAH | c.527G>T (p.Arg176Leu) c.512G>T (p.Arg171Leu) n.623G>T n.548G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.102855315C= | CA2059449817 | PAH | c.527G= (p.Arg176=) c.512G= (p.Arg171=) n.623G= n.548G= | |
| 12 | g.102855315C>G | CA229608 | PAH | c.527G>C (p.Arg176Pro) c.512G>C (p.Arg171Pro) n.623G>C n.548G>C | ClinVar dbSNP |
| 12 | g.102855315C>T | CA229606 | PAH | c.527G>A (p.Arg176Gln) c.512G>A (p.Arg171Gln) n.623G>A n.548G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855316G>A | CA275338 | PAH | c.526C>T (p.Arg176Ter) c.511C>T (p.Arg171Ter) n.622C>T n.547C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855316G>C | CA386297012 | PAH | c.526C>G (p.Arg176Gly) c.511C>G (p.Arg171Gly) n.622C>G n.547C>G | |
| 12 | g.102855316G= | CA2059449829 | PAH | c.526C= (p.Arg176=) c.511C= (p.Arg171=) n.622C= n.547C= | |
| 12 | g.102855316G>T | CA481578629 | PAH | c.526C>A (p.Arg176=) c.511C>A (p.Arg171=) n.622C>A n.547C>A | ClinVar gnomAD v4 |
| 12 | g.102855317A>C | CA481578630 | PAH | c.525T>G (p.Pro175=) c.510T>G (p.Pro170=) n.621T>G n.546T>G | |
| 12 | g.102855317A>G | CA481578631 | PAH | c.525T>C (p.Pro175=) c.510T>C (p.Pro170=) n.621T>C n.546T>C | |
| 12 | g.102855317A>T | CA481578632 | PAH | c.525T>A (p.Pro175=) c.510T>A (p.Pro170=) n.621T>A n.546T>A | |
| 12 | g.102855318G>A | CA386297015 | PAH | c.524C>T (p.Pro175Leu) c.509C>T (p.Pro170Leu) n.620C>T n.545C>T | COSMIC |
| 12 | g.102855318G>C | CA386297017 | PAH | c.524C>G (p.Pro175Arg) c.509C>G (p.Pro170Arg) n.620C>G n.545C>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102855318G= | CA2059449835 | PAH | c.524C= (p.Pro175=) c.509C= (p.Pro170=) n.620C= n.545C= | |
| 12 | g.102855318G>T | CA386297019 | PAH | c.524C>A (p.Pro175His) c.509C>A (p.Pro170His) n.620C>A n.545C>A | |
| 12 | g.102855319G>A | CA16020810 | PAH | c.523C>T (p.Pro175Ser) c.508C>T (p.Pro170Ser) n.619C>T n.544C>T | ClinVar dbSNP |
| 12 | g.102855319G>C | CA229605 | PAH | c.523C>G (p.Pro175Ala) c.508C>G (p.Pro170Ala) n.619C>G n.544C>G | ClinVar dbSNP |
| 12 | g.102855319G= | CA2059449844 | PAH | c.523C= (p.Pro175=) c.508C= (p.Pro170=) n.619C= n.544C= | |
| 12 | g.102855319G>T | CA386297022 | PAH | c.523C>A (p.Pro175Thr) c.508C>A (p.Pro170Thr) n.619C>A n.544C>A | |
| 12 | g.102855320G>A | CA481578633 | PAH | c.522C>T (p.Ile174=) c.507C>T (p.Ile169=) n.618C>T n.543C>T | COSMIC |
| 12 | g.102855320G>C | CA386297026 | PAH | c.522C>G (p.Ile174Met) c.507C>G (p.Ile169Met) n.618C>G n.543C>G | |
| 12 | g.102855320G>T | CA481578634 | PAH | c.522C>A (p.Ile174=) c.507C>A (p.Ile169=) n.618C>A n.543C>A | |
| 12 | g.102855321A= | CA2059449854 | PAH | c.521T= (p.Ile174=) c.506T= (p.Ile169=) n.617T= n.542T= | |
| 12 | g.102855321A>C | CA386297029 | PAH | c.521T>G (p.Ile174Ser) c.506T>G (p.Ile169Ser) n.617T>G n.542T>G | |
| 12 | g.102855321A>G | CA229604 | PAH | c.521T>C (p.Ile174Thr) c.506T>C (p.Ile169Thr) n.617T>C n.542T>C | ClinVar dbSNP |
| 12 | g.102855321A>T | CA6748896 | PAH | c.521T>A (p.Ile174Asn) c.506T>A (p.Ile169Asn) n.617T>A n.542T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855322T>A | CA386297033 | PAH | c.520A>T (p.Ile174Phe) c.505A>T (p.Ile169Phe) n.616A>T n.541A>T | |
| 12 | g.102855322T>C | CA229603 | PAH | c.520A>G (p.Ile174Val) c.505A>G (p.Ile169Val) n.616A>G n.541A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102855322T>G | CA386297036 | PAH | c.520A>C (p.Ile174Leu) c.505A>C (p.Ile169Leu) n.616A>C n.541A>C | |
| 12 | g.102855322T= | CA2059449865 | PAH | c.520A= (p.Ile174=) c.505A= (p.Ile169=) n.616A= n.541A= | |
| 12 | g.102855323G>A | CA481578635 | PAH | c.519C>T (p.Pro173=) c.504C>T (p.Pro168=) n.615C>T n.540C>T | gnomAD v4 |
| 12 | g.102855323G>C | CA481578636 | PAH | c.519C>G (p.Pro173=) c.504C>G (p.Pro168=) n.615C>G n.540C>G | |
| 12 | g.102855323G>T | CA481578637 | PAH | c.519C>A (p.Pro173=) c.504C>A (p.Pro168=) n.615C>A n.540C>A | |
| 12 | g.102855324G>A | CA386297038 | PAH | c.518C>T (p.Pro173Leu) c.503C>T (p.Pro168Leu) n.614C>T n.539C>T | gnomAD v4 |
| 12 | g.102855324G>C | CA386297039 | PAH | c.518C>G (p.Pro173Arg) c.503C>G (p.Pro168Arg) n.614C>G n.539C>G | |
| 12 | g.102855324G>T | CA386297041 | PAH | c.518C>A (p.Pro173His) c.503C>A (p.Pro168His) n.614C>A n.539C>A | |
| 12 | g.102855325G>A | CA386297043 | PAH | c.517C>T (p.Pro173Ser) c.502C>T (p.Pro168Ser) n.613C>T n.538C>T | gnomAD v4 |
| 12 | g.102855325G>C | CA386297044 | PAH | c.517C>G (p.Pro173Ala) c.502C>G (p.Pro168Ala) n.613C>G n.538C>G | |
| 12 | g.102855325G= | CA2059449872 | PAH | c.517C= (p.Pro173=) c.502C= (p.Pro168=) n.613C= n.538C= | |
| 12 | g.102855325G>T | CA229602 | PAH | c.517C>A (p.Pro173Thr) c.502C>A (p.Pro168Thr) n.613C>A n.538C>A | ClinVar dbSNP |
| 12 | g.102855326C>A | CA6748897 | PAH | c.516G>T (p.Gln172His) c.501G>T (p.Gln167His) n.612G>T n.537G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855326C= | CA2059449878 | PAH | c.516G= (p.Gln172=) c.501G= (p.Gln167=) n.612G= n.537G= | |
| 12 | g.102855326C>G | CA386297046 | PAH | c.516G>C (p.Gln172His) c.501G>C (p.Gln167His) n.612G>C n.537G>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855326C>T | CA481578638 | PAH | c.516G>A (p.Gln172=) c.501G>A (p.Gln167=) n.612G>A n.537G>A | |
| 12 | g.102855327T>A | CA386297047 | PAH | c.515A>T (p.Gln172Leu) c.500A>T (p.Gln167Leu) n.611A>T n.536A>T | |
| 12 | g.102855327T>C | CA386297051 | PAH | c.515A>G (p.Gln172Arg) c.500A>G (p.Gln167Arg) n.611A>G n.536A>G | ClinVar |
| 12 | g.102855327T>G | CA386297049 | PAH | c.515A>C (p.Gln172Pro) c.500A>C (p.Gln167Pro) n.611A>C n.536A>C | |
| 12 | g.102855328G>A | CA229600 | PAH | c.514C>T (p.Gln172Ter) c.499C>T (p.Gln167Ter) n.610C>T n.535C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855328G>C | CA386297056 | PAH | c.514C>G (p.Gln172Glu) c.499C>G (p.Gln167Glu) n.610C>G n.535C>G | |
| 12 | g.102855328G= | CA2059449889 | PAH | c.514C= (p.Gln172=) c.499C= (p.Gln167=) n.610C= n.535C= | |
| 12 | g.102855328G>T | CA386297054 | PAH | c.514C>A (p.Gln172Lys) c.499C>A (p.Gln167Lys) n.610C>A n.535C>A | |
| 12 | g.102855329C>A | CA6748898 | PAH | c.513G>T (p.Gly171=) c.498G>T (p.Gly166=) n.609G>T n.534G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855329C= | CA2059449894 | PAH | c.513G= (p.Gly171=) c.498G= (p.Gly166=) n.609G= n.534G= | |
| 12 | g.102855329C>G | CA481578639 | PAH | c.513G>C (p.Gly171=) c.498G>C (p.Gly166=) n.609G>C n.534G>C | |
| 12 | g.102855329C>T | CA481578640 | PAH | c.513G>A (p.Gly171=) c.498G>A (p.Gly166=) n.609G>A n.534G>A |