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.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 |