| 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.102855199T>A | CA386296650 | PAH | c.643A>T (p.Lys215Ter) c.628A>T (p.Lys210Ter) n.739A>T | |
| 12 | g.102855199T>C | CA386296651 | PAH | c.643A>G (p.Lys215Glu) c.628A>G (p.Lys210Glu) n.739A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855199T>G | CA386296649 | PAH | c.643A>C (p.Lys215Gln) c.628A>C (p.Lys210Gln) n.739A>C | |
| 12 | g.102855199T= | CA2059449327 | PAH | c.643A= (p.Lys215=) c.628A= (p.Lys210=) n.739A= | |
| 12 | g.102855200T>A | CA386296652 | PAH | c.642A>T (p.Glu214Asp) c.627A>T (p.Glu209Asp) n.738A>T | |
| 12 | g.102855200T>C | CA6748886 | PAH | c.642A>G (p.Glu214=) c.627A>G (p.Glu209=) n.738A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855200T>G | CA386296653 | PAH | c.642A>C (p.Glu214Asp) c.627A>C (p.Glu209Asp) n.738A>C | |
| 12 | g.102855200T= | CA2059449333 | PAH | c.642A= (p.Glu214=) c.627A= (p.Glu209=) n.738A= | |
| 12 | g.102855201T>A | CA386296654 | PAH | c.641A>T (p.Glu214Val) c.626A>T (p.Glu209Val) n.737A>T | |
| 12 | g.102855201T>C | CA386296655 | PAH | c.641A>G (p.Glu214Gly) c.626A>G (p.Glu209Gly) n.737A>G | ClinVar gnomAD v4 |
| 12 | g.102855201T>G | CA386296656 | PAH | c.641A>C (p.Glu214Ala) c.626A>C (p.Glu209Ala) n.737A>C | |
| 12 | g.102855202C>A | CA386296657 | PAH | c.640G>T (p.Glu214Ter) c.625G>T (p.Glu209Ter) n.736G>T | ClinVar |
| 12 | g.102855202C>G | CA386296658 | PAH | c.640G>C (p.Glu214Gln) c.625G>C (p.Glu209Gln) n.736G>C | gnomAD v4 |
| 12 | g.102855202C>T | CA386296659 | PAH | c.640G>A (p.Glu214Lys) c.625G>A (p.Glu209Lys) n.736G>A | COSMIC |
| 12 | g.102855203A= | CA2059449342 | PAH | c.639T= (p.Leu213=) c.624T= (p.Leu208=) n.735T= | |
| 12 | g.102855203A>C | CA481578525 | PAH | c.639T>G (p.Leu213=) c.624T>G (p.Leu208=) n.735T>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102855203A>G | CA481578526 | PAH | c.639T>C (p.Leu213=) c.624T>C (p.Leu208=) n.735T>C | |
| 12 | g.102855203A>T | CA481578527 | PAH | c.639T>A (p.Leu213=) c.624T>A (p.Leu208=) n.735T>A | |
| 12 | g.102855204A= | CA2059449346 | PAH | c.638T= (p.Leu213=) c.623T= (p.Leu208=) n.734T= | |
| 12 | g.102855204A>C | CA386296660 | PAH | c.638T>G (p.Leu213Arg) c.623T>G (p.Leu208Arg) n.734T>G | |
| 12 | g.102855204A>G | CA273109 | PAH | c.638T>C (p.Leu213Pro) c.623T>C (p.Leu208Pro) n.734T>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855204A>T | CA386296661 | PAH | c.638T>A (p.Leu213His) c.623T>A (p.Leu208His) n.734T>A | |
| 12 | g.102855205G>A | CA386296662 | PAH | c.637C>T (p.Leu213Phe) c.622C>T (p.Leu208Phe) n.733C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855205G>C | CA386296663 | PAH | c.637C>G (p.Leu213Val) c.622C>G (p.Leu208Val) n.733C>G | |
| 12 | g.102855205G= | CA2059449347 | PAH | c.637C= (p.Leu213=) c.622C= (p.Leu208=) n.733C= | |
| 12 | g.102855205G>T | CA386296664 | PAH | c.637C>A (p.Leu213Ile) c.622C>A (p.Leu208Ile) n.733C>A | |
| 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 |