| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.102855218_102855225del | CA2695199167 | PAH | c.618_625del (p.Asn207PhefsTer5) c.603_610del (p.Asn202PhefsTer5) n.714_721del | ClinVar |
| 12 | g.102855219T>A | CA386296691 | PAH | c.623A>T (p.His208Leu) c.608A>T (p.His203Leu) n.719A>T | |
| 12 | g.102855219T>C | CA386296692 | PAH | c.623A>G (p.His208Arg) c.608A>G (p.His203Arg) n.719A>G | gnomAD v4 |
| 12 | g.102855219T>G | CA386296693 | PAH | c.623A>C (p.His208Pro) c.608A>C (p.His203Pro) n.719A>C | |
| 12 | g.102855220G>A | CA386296694 | PAH | c.622C>T (p.His208Tyr) c.607C>T (p.His203Tyr) n.718C>T | |
| 12 | g.102855220G>C | CA386296695 | PAH | c.622C>G (p.His208Asp) c.607C>G (p.His203Asp) n.718C>G | |
| 12 | g.102855220G>T | CA386296696 | PAH | c.622C>A (p.His208Asn) c.607C>A (p.His203Asn) n.718C>A | |
| 12 | g.102855221A>C | CA386296697 | PAH | c.621T>G (p.Asn207Lys) c.606T>G (p.Asn202Lys) n.717T>G | |
| 12 | g.102855221A>G | CA481578550 | PAH | c.621T>C (p.Asn207=) c.606T>C (p.Asn202=) n.717T>C | |
| 12 | g.102855221A>T | CA386296698 | PAH | c.621T>A (p.Asn207Lys) c.606T>A (p.Asn202Lys) n.717T>A | |
| 12 | g.102855222T>A | CA386296699 | PAH | c.620A>T (p.Asn207Ile) c.605A>T (p.Asn202Ile) n.716A>T | gnomAD v4 |
| 12 | g.102855222T>C | CA229665 | PAH | c.620A>G (p.Asn207Ser) c.605A>G (p.Asn202Ser) n.716A>G | ClinVar dbSNP gnomAD v4 COSMIC |
| 12 | g.102855222T>G | CA386296700 | PAH | c.620A>C (p.Asn207Thr) c.605A>C (p.Asn202Thr) n.716A>C | |
| 12 | g.102855222T= | CA2059449392 | PAH | c.620A= (p.Asn207=) c.605A= (p.Asn202=) n.716A= | |
| 12 | g.102855223T>A | CA386296701 | PAH | c.619A>T (p.Asn207Tyr) c.604A>T (p.Asn202Tyr) n.715A>T | |
| 12 | g.102855223T>C | CA229664 | PAH | c.619A>G (p.Asn207Asp) c.604A>G (p.Asn202Asp) n.715A>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855223T>G | CA386296702 | PAH | c.619A>C (p.Asn207His) c.604A>C (p.Asn202His) n.715A>C | |
| 12 | g.102855223T= | CA2059449395 | PAH | c.619A= (p.Asn207=) c.604A= (p.Asn202=) n.715A= | |
| 12 | g.102855224G>A | CA481578553 | PAH | c.618C>T (p.Tyr206=) c.603C>T (p.Tyr201=) n.714C>T | |
| 12 | g.102855224G>C | CA229662 | PAH | c.618C>G (p.Tyr206Ter) c.603C>G (p.Tyr201Ter) n.714C>G | ClinVar dbSNP |
| 12 | g.102855224G= | CA2059449405 | PAH | c.618C= (p.Tyr206=) c.603C= (p.Tyr201=) n.714C= | |
| 12 | g.102855224G>T | CA6748887 | PAH | c.618C>A (p.Tyr206Ter) c.603C>A (p.Tyr201Ter) n.714C>A | ClinVar dbSNP ExAC gnomAD v2 |
| 12 | g.102855225T>A | CA386296703 | PAH | c.617A>T (p.Tyr206Phe) c.602A>T (p.Tyr201Phe) n.713A>T | |
| 12 | g.102855225T>C | CA229660 | PAH | c.617A>G (p.Tyr206Cys) c.602A>G (p.Tyr201Cys) n.713A>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855225T>G | CA386296704 | PAH | c.617A>C (p.Tyr206Ser) c.602A>C (p.Tyr201Ser) n.713A>C | |
| 12 | g.102855225T= | CA2059449415 | PAH | c.617A= (p.Tyr206=) c.602A= (p.Tyr201=) n.713A= | |
| 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= |