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.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.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.102855233_102855256delinsGCAAGCATGGGTTTTATACAAGGA | CA2059449497 | PAH | c.586_609delinsTCCTTGTATAAAACCCATGCTTGC (p.Ser196=) c.571_594delinsTCCTTGTATAAAACCCATGCTTGC (p.Ser191=) n.682_705delinsTCCTTGTATAAAACCCATGCTTGC | |
12 | g.102855235_102855257del | CA229634 | PAH | c.586_608del (p.Ser196LeufsTer2) c.571_593del (p.Ser191LeufsTer2) n.682_704del | ClinVar dbSNP |
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 |