| 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.102855206A>C | CA481578531 | PAH | c.636T>G (p.Leu212=) c.621T>G (p.Leu207=) n.732T>G | |
| 12 | g.102855206A>G | CA481578532 | PAH | c.636T>C (p.Leu212=) c.621T>C (p.Leu207=) n.732T>C | |
| 12 | g.102855206A>T | CA481578533 | PAH | c.636T>A (p.Leu212=) c.621T>A (p.Leu207=) n.732T>A | |
| 12 | g.102855207del | CA2695217160 | PAH | c.636del (p.Glu214LysfsTer?) c.621del (p.Glu209LysfsTer?) n.732del | |
| 12 | g.102855207A= | CA2059449351 | PAH | c.635T= (p.Leu212=) c.620T= (p.Leu207=) n.731T= | |
| 12 | g.102855207A>C | CA386296665 | PAH | c.635T>G (p.Leu212Arg) c.620T>G (p.Leu207Arg) n.731T>G | |
| 12 | g.102855207A>G | CA229668 | PAH | c.635T>C (p.Leu212Pro) c.620T>C (p.Leu207Pro) n.731T>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855207A>T | CA386296666 | PAH | c.635T>A (p.Leu212His) c.620T>A (p.Leu207His) n.731T>A | |
| 12 | g.102855208G>A | CA386296667 | PAH | c.634C>T (p.Leu212Phe) c.619C>T (p.Leu207Phe) n.730C>T | |
| 12 | g.102855208G>C | CA386296668 | PAH | c.634C>G (p.Leu212Val) c.619C>G (p.Leu207Val) n.730C>G | |
| 12 | g.102855208G>T | CA386296669 | PAH | c.634C>A (p.Leu212Ile) c.619C>A (p.Leu207Ile) n.730C>A | |
| 12 | g.102855209T>A | CA481578536 | PAH | c.633A>T (p.Pro211=) c.618A>T (p.Pro206=) n.729A>T | |
| 12 | g.102855209T>C | CA481578538 | PAH | c.633A>G (p.Pro211=) c.618A>G (p.Pro206=) n.729A>G | |
| 12 | g.102855209T>G | CA481578537 | PAH | c.633A>C (p.Pro211=) c.618A>C (p.Pro206=) n.729A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855209T= | CA2059449358 | PAH | c.633A= (p.Pro211=) c.618A= (p.Pro206=) n.729A= | |
| 12 | g.102855209_102855210delinsTG | CA2059449357 | PAH | c.632_633delinsCA (p.Pro211=) c.617_618delinsCA (p.Pro206=) n.728_729delinsCA | |
| 12 | g.102855210G>A | CA267667 | PAH | c.632C>T (p.Pro211Leu) c.617C>T (p.Pro206Leu) n.728C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855210G>C | CA386296670 | PAH | c.632C>G (p.Pro211Arg) c.617C>G (p.Pro206Arg) n.728C>G | |
| 12 | g.102855210G= | CA2059449370 | PAH | c.632C= (p.Pro211=) c.617C= (p.Pro206=) n.728C= | |
| 12 | g.102855210G>T | CA386296671 | PAH | c.632C>A (p.Pro211Gln) c.617C>A (p.Pro206Gln) n.728C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102855211dup | CA2580085713 | PAH | c.632dup (p.Leu212ThrfsTer3) c.617dup (p.Leu207ThrfsTer3) n.728dup | ClinVar |
| 12 | g.102855211del | CA229667 | PAH | c.632del (p.Pro211HisfsTer?) c.617del (p.Pro206HisfsTer?) n.728del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102855211G>A | CA386296672 | PAH | c.631C>T (p.Pro211Ser) c.616C>T (p.Pro206Ser) n.727C>T | COSMIC |
| 12 | g.102855211G>C | CA386296673 | PAH | c.631C>G (p.Pro211Ala) c.616C>G (p.Pro206Ala) n.727C>G | |
| 12 | g.102855211G= | CA2059449376 | PAH | c.631C= (p.Pro211=) c.616C= (p.Pro206=) n.727C= | |
| 12 | g.102855211G>T | CA229666 | PAH | c.631C>A (p.Pro211Thr) c.616C>A (p.Pro206Thr) n.727C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855212A= | CA2059449380 | PAH | c.630T= (p.Phe210=) c.615T= (p.Phe205=) n.726T= | |
| 12 | g.102855212A>C | CA386296675 | PAH | c.630T>G (p.Phe210Leu) c.615T>G (p.Phe205Leu) n.726T>G | |
| 12 | g.102855212A>G | CA481578542 | PAH | c.630T>C (p.Phe210=) c.615T>C (p.Phe205=) n.726T>C | dbSNP |
| 12 | g.102855212A>T | CA386296674 | PAH | c.630T>A (p.Phe210Leu) c.615T>A (p.Phe205Leu) n.726T>A | |
| 12 | g.102855213A>C | CA386296676 | PAH | c.629T>G (p.Phe210Cys) c.614T>G (p.Phe205Cys) n.725T>G | |
| 12 | g.102855213A>G | CA386296677 | PAH | c.629T>C (p.Phe210Ser) c.614T>C (p.Phe205Ser) n.725T>C | |
| 12 | g.102855213A>T | CA386296678 | PAH | c.629T>A (p.Phe210Tyr) c.614T>A (p.Phe205Tyr) n.725T>A | |
| 12 | g.102855214A>C | CA386296679 | PAH | c.628T>G (p.Phe210Val) c.613T>G (p.Phe205Val) n.724T>G | |
| 12 | g.102855214A>G | CA386296680 | PAH | c.628T>C (p.Phe210Leu) c.613T>C (p.Phe205Leu) n.724T>C | |
| 12 | g.102855214A>T | CA386296681 | PAH | c.628T>A (p.Phe210Ile) c.613T>A (p.Phe205Ile) n.724T>A | |
| 12 | g.102855215A= | CA2059449384 | PAH | c.627T= (p.Ile209=) c.612T= (p.Ile204=) n.723T= | |
| 12 | g.102855215A>C | CA386296682 | PAH | c.627T>G (p.Ile209Met) c.612T>G (p.Ile204Met) n.723T>G | |
| 12 | g.102855215A>G | CA481578545 | PAH | c.627T>C (p.Ile209=) c.612T>C (p.Ile204=) n.723T>C | dbSNP |
| 12 | g.102855215A>T | CA481578544 | PAH | c.627T>A (p.Ile209=) c.612T>A (p.Ile204=) n.723T>A | |
| 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 |