| 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 | |
| 12 | g.102855216A= | CA2059449387 | PAH | c.626T= (p.Ile209=) c.611T= (p.Ile204=) n.722T= | |
| 12 | g.102855216A>C | CA386296683 | PAH | c.626T>G (p.Ile209Ser) c.611T>G (p.Ile204Ser) n.722T>G | |
| 12 | g.102855216A>G | CA386296684 | PAH | c.626T>C (p.Ile209Thr) c.611T>C (p.Ile204Thr) n.722T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102855216A>T | CA386296685 | PAH | c.626T>A (p.Ile209Asn) c.611T>A (p.Ile204Asn) n.722T>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102855216_102855217insG | CA2695217161 | PAH | c.625_626insC (p.Ile209ThrfsTer6) c.610_611insC (p.Ile204ThrfsTer6) n.721_722insC | |
| 12 | g.102855217T>A | CA386296686 | PAH | c.625A>T (p.Ile209Phe) c.610A>T (p.Ile204Phe) n.721A>T | |
| 12 | g.102855217T>C | CA386296687 | PAH | c.625A>G (p.Ile209Val) c.610A>G (p.Ile204Val) n.721A>G | |
| 12 | g.102855217T>G | CA386296688 | PAH | c.625A>C (p.Ile209Leu) c.610A>C (p.Ile204Leu) n.721A>C | |
| 12 | g.102855218_102855225del | CA2695199167 | PAH | c.618_625del (p.Asn207PhefsTer5) c.603_610del (p.Asn202PhefsTer5) n.714_721del | |
| 12 | g.102855218G>A | CA481578548 | PAH | c.624C>T (p.His208=) c.609C>T (p.His203=) n.720C>T | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102855218G>C | CA386296690 | PAH | c.624C>G (p.His208Gln) c.609C>G (p.His203Gln) n.720C>G | |
| 12 | g.102855218G= | CA2059449389 | PAH | c.624C= (p.His208=) c.609C= (p.His203=) n.720C= | |
| 12 | g.102855218G>T | CA386296689 | PAH | c.624C>A (p.His208Gln) c.609C>A (p.His203Gln) n.720C>A | |
| 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 |