UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.102855185G>A | CA481578503 | PAH | c.657C>T (p.Phe219=) c.642C>T (p.Phe214=) n.753C>T | ClinVar |
| 12 | g.102855185G>C | CA386296620 | PAH | c.657C>G (p.Phe219Leu) c.642C>G (p.Phe214Leu) n.753C>G | |
| 12 | g.102855185G>T | CA386296621 | PAH | c.657C>A (p.Phe219Leu) c.642C>A (p.Phe214Leu) n.753C>A | |
| 12 | g.102855186A= | CA2059449262 | PAH | c.656T= (p.Phe219=) c.641T= (p.Phe214=) n.752T= | |
| 12 | g.102855186A>C | CA386296622 | PAH | c.656T>G (p.Phe219Cys) c.641T>G (p.Phe214Cys) n.752T>G | |
| 12 | g.102855186A>G | CA16020831 | PAH | c.656T>C (p.Phe219Ser) c.641T>C (p.Phe214Ser) n.752T>C | ClinVar dbSNP |
| 12 | g.102855186A>T | CA386296623 | PAH | c.656T>A (p.Phe219Tyr) c.641T>A (p.Phe214Tyr) n.752T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102855187A>C | CA386296626 | PAH | c.655T>G (p.Phe219Val) c.640T>G (p.Phe214Val) n.751T>G | |
| 12 | g.102855187A>G | CA386296624 | PAH | c.655T>C (p.Phe219Leu) c.640T>C (p.Phe214Leu) n.751T>C | |
| 12 | g.102855187A>T | CA386296625 | PAH | c.655T>A (p.Phe219Ile) c.640T>A (p.Phe214Ile) n.751T>A | |
| 12 | g.102855188G>A | CA242473996 | PAH | c.654C>T (p.Gly218=) c.639C>T (p.Gly213=) n.750C>T | ClinVar dbSNP |
| 12 | g.102855188G>C | CA481578507 | PAH | c.654C>G (p.Gly218=) c.639C>G (p.Gly213=) n.750C>G | ClinVar dbSNP |
| 12 | g.102855188G= | CA2059449271 | PAH | c.654C= (p.Gly218=) c.639C= (p.Gly213=) n.750C= | |
| 12 | g.102855188G>T | CA481578506 | PAH | c.654C>A (p.Gly218=) c.639C>A (p.Gly213=) n.750C>A | |
| 12 | g.102855189C>A | CA229676 | PAH | c.653G>T (p.Gly218Val) c.638G>T (p.Gly213Val) n.749G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855189C= | CA2059449280 | PAH | c.653G= (p.Gly218=) c.638G= (p.Gly213=) n.749G= | |
| 12 | g.102855189C>G | CA386296627 | PAH | c.653G>C (p.Gly218Ala) c.638G>C (p.Gly213Ala) n.749G>C | |
| 12 | g.102855189C>T | CA386296628 | PAH | c.653G>A (p.Gly218Asp) c.638G>A (p.Gly213Asp) n.749G>A | |
| 12 | g.102855190del | CA16020830 | PAH | c.653del (p.Gly218AlafsTer?) c.638del (p.Gly213AlafsTer?) n.749del | |
| 12 | g.102855190C>A | CA386296629 | PAH | c.652G>T (p.Gly218Cys) c.637G>T (p.Gly213Cys) n.748G>T | |
| 12 | g.102855190C>G | CA386296630 | PAH | c.652G>C (p.Gly218Arg) c.637G>C (p.Gly213Arg) n.748G>C | |
| 12 | g.102855190C>T | CA386296631 | PAH | c.652G>A (p.Gly218Ser) c.637G>A (p.Gly213Ser) n.748G>A | |
| 12 | g.102855191A>C | CA386296632 | PAH | c.651T>G (p.Cys217Trp) c.636T>G (p.Cys212Trp) n.747T>G | |
| 12 | g.102855191A>G | CA481578511 | PAH | c.651T>C (p.Cys217=) c.636T>C (p.Cys212=) n.747T>C | ClinVar dbSNP |
| 12 | g.102855191A>T | CA386296633 | PAH | c.651T>A (p.Cys217Ter) c.636T>A (p.Cys212Ter) n.747T>A | |
| 12 | g.102855192C>A | CA386296634 | PAH | c.650G>T (p.Cys217Phe) c.635G>T (p.Cys212Phe) n.746G>T | ClinVar |
| 12 | g.102855192C= | CA2059449293 | PAH | c.650G= (p.Cys217=) c.635G= (p.Cys212=) n.746G= | |
| 12 | g.102855192C>G | CA386296635 | PAH | c.650G>C (p.Cys217Ser) c.635G>C (p.Cys212Ser) n.746G>C | |
| 12 | g.102855192C>T | CA229674 | PAH | c.650G>A (p.Cys217Tyr) c.635G>A (p.Cys212Tyr) n.746G>A | ClinVar dbSNP |
| 12 | g.102855193A= | CA2059449306 | PAH | c.649T= (p.Cys217=) c.634T= (p.Cys212=) n.745T= | |
| 12 | g.102855193A>C | CA229673 | PAH | c.649T>G (p.Cys217Gly) c.634T>G (p.Cys212Gly) n.745T>G | ClinVar dbSNP |
| 12 | g.102855193A>G | CA229671 | PAH | c.649T>C (p.Cys217Arg) c.634T>C (p.Cys212Arg) n.745T>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855193A>T | CA386296636 | PAH | c.649T>A (p.Cys217Ser) c.634T>A (p.Cys212Ser) n.745T>A | |
| 12 | g.102855194G>A | CA481578515 | PAH | c.648C>T (p.Tyr216=) c.633C>T (p.Tyr211=) n.744C>T | |
| 12 | g.102855194G>C | CA229669 | PAH | c.648C>G (p.Tyr216Ter) c.633C>G (p.Tyr211Ter) n.744C>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855194G= | CA2059449318 | PAH | c.648C= (p.Tyr216=) c.633C= (p.Tyr211=) n.744C= | |
| 12 | g.102855194G>T | CA386296637 | PAH | c.648C>A (p.Tyr216Ter) c.633C>A (p.Tyr211Ter) n.744C>A | |
| 12 | g.102855195T>A | CA386296638 | PAH | c.647A>T (p.Tyr216Phe) c.632A>T (p.Tyr211Phe) n.743A>T | |
| 12 | g.102855195T>C | CA386296639 | PAH | c.647A>G (p.Tyr216Cys) c.632A>G (p.Tyr211Cys) n.743A>G | |
| 12 | g.102855195T>G | CA386296640 | PAH | c.647A>C (p.Tyr216Ser) c.632A>C (p.Tyr211Ser) n.743A>C | |
| 12 | g.102855196A>C | CA386296641 | PAH | c.646T>G (p.Tyr216Asp) c.631T>G (p.Tyr211Asp) n.742T>G | |
| 12 | g.102855196A>G | CA386296642 | PAH | c.646T>C (p.Tyr216His) c.631T>C (p.Tyr211His) n.742T>C | |
| 12 | g.102855196A>T | CA386296643 | PAH | c.646T>A (p.Tyr216Asn) c.631T>A (p.Tyr211Asn) n.742T>A | |
| 12 | g.102855197C>A | CA386296644 | PAH | c.645G>T (p.Lys215Asn) c.630G>T (p.Lys210Asn) n.741G>T | |
| 12 | g.102855197C= | CA2059449324 | PAH | c.645G= (p.Lys215=) c.630G= (p.Lys210=) n.741G= | |
| 12 | g.102855197C>G | CA386296645 | PAH | c.645G>C (p.Lys215Asn) c.630G>C (p.Lys210Asn) n.741G>C | |
| 12 | g.102855197C>T | CA481578519 | PAH | c.645G>A (p.Lys215=) c.630G>A (p.Lys210=) n.741G>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102855198T>A | CA386296646 | PAH | c.644A>T (p.Lys215Met) c.629A>T (p.Lys210Met) n.740A>T | COSMIC |
| 12 | g.102855198T>C | CA386296647 | PAH | c.644A>G (p.Lys215Arg) c.629A>G (p.Lys210Arg) n.740A>G | |
| 12 | g.102855198T>G | CA386296648 | PAH | c.644A>C (p.Lys215Thr) c.629A>C (p.Lys210Thr) n.740A>C | |
| 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 |
| 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 | |
| 12 | g.102855218_102855225del | CA2695199167 | PAH | c.618_625del (p.Asn207PhefsTer5) c.603_610del (p.Asn202PhefsTer5) n.714_721del | ClinVar |
| 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 |
| 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= | |
| 12 | g.102855230A>C | CA229654 | PAH | c.612T>G (p.Tyr204Ter) c.597T>G (p.Tyr199Ter) n.708T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102855230A>G | CA267665 | PAH | c.612T>C (p.Tyr204=) c.597T>C (p.Tyr199=) n.708T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855230A>T | CA386296712 | PAH | c.612T>A (p.Tyr204Ter) c.597T>A (p.Tyr199Ter) n.708T>A | |
| 12 | g.102855231_102855253del | CA229637 | PAH | c.590_612del (p.Leu197Ter) c.575_597del (p.Leu192Ter) n.686_708del | ClinVar dbSNP |
| 12 | g.102855231T>A | CA386296713 | PAH | c.611A>T (p.Tyr204Phe) c.596A>T (p.Tyr199Phe) n.707A>T | |
| 12 | g.102855231T>C | CA229653 | PAH | c.611A>G (p.Tyr204Cys) c.596A>G (p.Tyr199Cys) n.707A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855231T>G | CA386296714 | PAH | c.611A>C (p.Tyr204Ser) c.596A>C (p.Tyr199Ser) n.707A>C | |
| 12 | g.102855231T= | CA2059449473 | PAH | c.611A= (p.Tyr204=) c.596A= (p.Tyr199=) n.707A= | |
| 12 | g.102855231dup | CA912973333 | PAH | c.611dup (p.Tyr204Ter) c.596dup (p.Tyr199Ter) n.707dup | |
| 12 | g.102855231_102855253delinsTAGCAAGCATGGGTTTTATACAA | CA2059449474 | PAH | c.589_611delinsTTGTATAAAACCCATGCTTGCTA (p.Leu197=) c.574_596delinsTTGTATAAAACCCATGCTTGCTA (p.Leu192=) n.685_707delinsTTGTATAAAACCCATGCTTGCTA | |
| 12 | g.102855232A>C | CA386296715 | PAH | c.610T>G (p.Tyr204Asp) c.595T>G (p.Tyr199Asp) n.706T>G | |
| 12 | g.102855232A>G | CA386296716 | PAH | c.610T>C (p.Tyr204His) c.595T>C (p.Tyr199His) n.706T>C | |
| 12 | g.102855232A>T | CA386296717 | PAH | c.610T>A (p.Tyr204Asn) c.595T>A (p.Tyr199Asn) n.706T>A | |
| 12 | g.102855232dup | CA658821468 | PAH | c.610dup (p.Tyr204LeufsTer2) c.595dup (p.Tyr199LeufsTer2) n.706dup | ClinVar dbSNP |
| 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.102855233G>A | CA229649 | PAH | c.609C>T (p.Cys203=) c.594C>T (p.Cys198=) n.705C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855233G>C | CA229647 | PAH | c.609C>G (p.Cys203Trp) c.594C>G (p.Cys198Trp) n.705C>G | ClinVar dbSNP |
| 12 | g.102855233G= | CA2059449495 | PAH | c.609C= (p.Cys203=) c.594C= (p.Cys198=) n.705C= | |
| 12 | g.102855233G>T | CA386296718 | PAH | c.609C>A (p.Cys203Ter) c.594C>A (p.Cys198Ter) n.705C>A | |
| 12 | g.102855233_102855256delinsGCAAGCATGGGTTTTATACAAGGA | CA2059449497 | PAH | c.586_609delinsTCCTTGTATAAAACCCATGCTTGC (p.Ser196=) c.571_594delinsTCCTTGTATAAAACCCATGCTTGC (p.Ser191=) n.682_705delinsTCCTTGTATAAAACCCATGCTTGC | |
| 12 | g.102855234C>A | CA386296719 | PAH | c.608G>T (p.Cys203Phe) c.593G>T (p.Cys198Phe) n.704G>T | dbSNP |
| 12 | g.102855234C= | CA2059449505 | PAH | c.608G= (p.Cys203=) c.593G= (p.Cys198=) n.704G= | |
| 12 | g.102855234C>G | CA386296720 | PAH | c.608G>C (p.Cys203Ser) c.593G>C (p.Cys198Ser) n.704G>C | |
| 12 | g.102855234C>T | CA229645 | PAH | c.608G>A (p.Cys203Tyr) c.593G>A (p.Cys198Tyr) n.704G>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855235_102855257del | CA229634 | PAH | c.586_608del (p.Ser196LeufsTer2) c.571_593del (p.Ser191LeufsTer2) n.682_704del | ClinVar dbSNP |
| 12 | g.102855235A= | CA2059449514 | PAH | c.607T= (p.Cys203=) c.592T= (p.Cys198=) n.703T= | |
| 12 | g.102855235A>C | CA386296721 | PAH | c.607T>G (p.Cys203Gly) c.592T>G (p.Cys198Gly) n.703T>G | |
| 12 | g.102855235A>G | CA386296722 | PAH | c.607T>C (p.Cys203Arg) c.592T>C (p.Cys198Arg) n.703T>C | |
| 12 | g.102855235A>T | CA386296723 | PAH | c.607T>A (p.Cys203Ser) c.592T>A (p.Cys198Ser) n.703T>A | ClinVar dbSNP |
| 12 | g.102855236dup | CA16020829 | PAH | c.607dup (p.Cys203LeufsTer3) c.592dup (p.Cys198LeufsTer3) n.703dup | ClinVar dbSNP |
| 12 | g.102855236A>C | CA481578557 | PAH | c.606T>G (p.Ala202=) c.591T>G (p.Ala197=) n.702T>G | |
| 12 | g.102855236A>G | CA481578559 | PAH | c.606T>C (p.Ala202=) c.591T>C (p.Ala197=) n.702T>C | |
| 12 | g.102855236A>T | CA481578558 | PAH | c.606T>A (p.Ala202=) c.591T>A (p.Ala197=) n.702T>A | |
| 12 | g.102855237G>A | CA16020828 | PAH | c.605C>T (p.Ala202Val) c.590C>T (p.Ala197Val) n.701C>T | ClinVar dbSNP |
| 12 | g.102855237G>C | CA386296724 | PAH | c.605C>G (p.Ala202Gly) c.590C>G (p.Ala197Gly) n.701C>G | gnomAD v4 |
| 12 | g.102855237G>T | CA386296725 | PAH | c.605C>A (p.Ala202Asp) c.590C>A (p.Ala197Asp) n.701C>A | |
| 12 | g.102855238C>A | CA386296726 | PAH | c.604G>T (p.Ala202Ser) c.589G>T (p.Ala197Ser) n.700G>T | |
| 12 | g.102855238C>G | CA386296727 | PAH | c.604G>C (p.Ala202Pro) c.589G>C (p.Ala197Pro) n.700G>C | |
| 12 | g.102855238C>T | CA16020827 | PAH | c.604G>A (p.Ala202Thr) c.589G>A (p.Ala197Thr) n.700G>A | ClinVar gnomAD v4 COSMIC |
| 12 | g.102855239A= | CA2059449518 | PAH | c.603T= (p.His201=) c.588T= (p.His196=) n.699T= | |
| 12 | g.102855239A>C | CA16020826 | PAH | c.603T>G (p.His201Gln) c.588T>G (p.His196Gln) n.699T>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855239A>G | CA6748889 | PAH | c.603T>C (p.His201=) c.588T>C (p.His196=) n.699T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102855239A>T | CA386296728 | PAH | c.603T>A (p.His201Gln) c.588T>A (p.His196Gln) n.699T>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102855240T>A | CA386296730 | PAH | c.602A>T (p.His201Leu) c.587A>T (p.His196Leu) n.698A>T | |
| 12 | g.102855240T>C | CA229644 | PAH | c.602A>G (p.His201Arg) c.587A>G (p.His196Arg) n.698A>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855240T>G | CA386296729 | PAH | c.602A>C (p.His201Pro) c.587A>C (p.His196Pro) n.698A>C | |
| 12 | g.102855240T= | CA2059449525 | PAH | c.602A= (p.His201=) c.587A= (p.His196=) n.698A= | |
| 12 | g.102855240dup | CA2695217162 | PAH | c.602dup (p.His201GlnfsTer5) c.587dup (p.His196GlnfsTer5) n.698dup | |
| 12 | g.102855241G>A | CA229643 | PAH | c.601C>T (p.His201Tyr) c.586C>T (p.His196Tyr) n.697C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102855241G>C | CA386296731 | PAH | c.601C>G (p.His201Asp) c.586C>G (p.His196Asp) n.697C>G | |
| 12 | g.102855241G= | CA2059449533 | PAH | c.601C= (p.His201=) c.586C= (p.His196=) n.697C= | |
| 12 | g.102855241G>T | CA386296732 | PAH | c.601C>A (p.His201Asn) c.586C>A (p.His196Asn) n.697C>A | |
| 12 | g.102855242G>A | CA481578560 | PAH | c.600C>T (p.Thr200=) c.585C>T (p.Thr195=) n.696C>T | |
| 12 | g.102855242G>C | CA481578561 | PAH | c.600C>G (p.Thr200=) c.585C>G (p.Thr195=) n.696C>G | |
| 12 | g.102855242G>T | CA481578562 | PAH | c.600C>A (p.Thr200=) c.585C>A (p.Thr195=) n.696C>A | |
| 12 | g.102855243G>A | CA386296733 | PAH | c.599C>T (p.Thr200Ile) c.584C>T (p.Thr195Ile) n.695C>T | |
| 12 | g.102855243G>C | CA386296734 | PAH | c.599C>G (p.Thr200Ser) c.584C>G (p.Thr195Ser) n.695C>G | |
| 12 | g.102855243G= | CA2059449537 | PAH | c.599C= (p.Thr200=) c.584C= (p.Thr195=) n.695C= | |
| 12 | g.102855243G>T | CA16020825 | PAH | c.599C>A (p.Thr200Asn) c.584C>A (p.Thr195Asn) n.695C>A | 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 | |
| 12 | g.102855253A>T | CA386296757 | PAH | c.589T>A (p.Leu197Met) c.574T>A (p.Leu192Met) n.685T>A | |
| 12 | g.102855254G>A | CA6748890 | PAH | c.588C>T (p.Ser196=) c.573C>T (p.Ser191=) n.684C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855254G>C | CA481578568 | PAH | c.588C>G (p.Ser196=) c.573C>G (p.Ser191=) n.684C>G | |
| 12 | g.102855254G= | CA2059449569 | PAH | c.588C= (p.Ser196=) c.573C= (p.Ser191=) n.684C= | |
| 12 | g.102855254G>T | CA481578567 | PAH | c.588C>A (p.Ser196=) c.573C>A (p.Ser191=) n.684C>A | |
| 12 | g.102855254_102855255delinsAC | CA645584084 | PAH | c.587_588delinsGT (p.Ser196Cys) c.572_573delinsGT (p.Ser191Cys) n.683_684delinsGT | COSMIC |
| 12 | g.102855255G>A | CA242474167 | PAH | c.587C>T (p.Ser196Phe) c.572C>T (p.Ser191Phe) n.683C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.102855255G>C | CA386296758 | PAH | c.587C>G (p.Ser196Cys) c.572C>G (p.Ser191Cys) n.683C>G | gnomAD v4 |
| 12 | g.102855255G= | CA2059449574 | PAH | c.587C= (p.Ser196=) c.572C= (p.Ser191=) n.683C= | |
| 12 | g.102855255G>T | CA16020823 | PAH | c.587C>A (p.Ser196Tyr) c.572C>A (p.Ser191Tyr) n.683C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102855256A>C | CA386296759 | PAH | c.586T>G (p.Ser196Ala) c.571T>G (p.Ser191Ala) n.682T>G | |
| 12 | g.102855256A>G | CA386296760 | PAH | c.586T>C (p.Ser196Pro) c.571T>C (p.Ser191Pro) n.682T>C | |
| 12 | g.102855256A>T | CA16020822 | PAH | c.586T>A (p.Ser196Thr) c.571T>A (p.Ser191Thr) n.682T>A | ClinVar dbSNP |
| 12 | g.102855257C>A | CA386296761 | PAH | c.585G>T (p.Lys195Asn) c.570G>T (p.Lys190Asn) n.681G>T | |
| 12 | g.102855257C= | CA2059449579 | PAH | c.585G= (p.Lys195=) c.570G= (p.Lys190=) n.681G= | |
| 12 | g.102855257C>G | CA386296762 | PAH | c.585G>C (p.Lys195Asn) c.570G>C (p.Lys190Asn) n.681G>C | |
| 12 | g.102855257C>T | CA481578569 | PAH | c.585G>A (p.Lys195=) c.570G>A (p.Lys190=) n.681G>A | |
| 12 | g.102855258T>A | CA386296763 | PAH | c.584A>T (p.Lys195Met) c.569A>T (p.Lys190Met) n.680A>T | |
| 12 | g.102855258T>C | CA386296764 | PAH | c.584A>G (p.Lys195Arg) c.569A>G (p.Lys190Arg) n.680A>G | gnomAD v4 |
| 12 | g.102855258T>G | CA386296765 | PAH | c.584A>C (p.Lys195Thr) c.569A>C (p.Lys190Thr) n.680A>C | COSMIC |
| 12 | g.102855259dup | CA16020821 | PAH | c.584dup (p.Ser196ValfsTer4) c.569dup (p.Ser191ValfsTer4) n.680dup | ClinVar dbSNP |
| 12 | g.102855259T>A | CA386296767 | PAH | c.583A>T (p.Lys195Ter) c.568A>T (p.Lys190Ter) n.679A>T | |
| 12 | g.102855259T>C | CA386296768 | PAH | c.583A>G (p.Lys195Glu) c.568A>G (p.Lys190Glu) n.679A>G | |
| 12 | g.102855259T>G | CA386296766 | PAH | c.583A>C (p.Lys195Gln) c.568A>C (p.Lys190Gln) n.679A>C | |
| 12 | g.102855260C>A | CA481578570 | PAH | c.582G>T (p.Leu194=) c.567G>T (p.Leu189=) n.678G>T | |
| 12 | g.102855260C>G | CA481578571 | PAH | c.582G>C (p.Leu194=) c.567G>C (p.Leu189=) n.678G>C | |
| 12 | g.102855260C>T | CA481578572 | PAH | c.582G>A (p.Leu194=) c.567G>A (p.Leu189=) n.678G>A | COSMIC |
| 12 | g.102855260_102855262delinsCAG | CA2059449589 | PAH | c.580_582delinsCTG (p.Leu194=) c.565_567delinsCTG (p.Leu189=) n.676_678delinsCTG | |
| 12 | g.102855261A= | CA2059449598 | PAH | c.581T= (p.Leu194=) c.566T= (p.Leu189=) n.677T= | |
| 12 | g.102855261A>C | CA16020820 | PAH | c.581T>G (p.Leu194Arg) c.566T>G (p.Leu189Arg) n.677T>G | gnomAD v4 |
| 12 | g.102855261A>G | CA229633 | PAH | c.581T>C (p.Leu194Pro) c.566T>C (p.Leu189Pro) n.677T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102855261A>T | CA386296769 | PAH | c.581T>A (p.Leu194Gln) c.566T>A (p.Leu189Gln) n.677T>A | |
| 12 | g.102855263_102855264del | CA229632 | PAH | c.580_581del (p.Leu194GlufsTer5) c.565_566del (p.Leu189GlufsTer5) n.676_677del | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855262G>A | CA481578573 | PAH | c.580C>T (p.Leu194=) c.565C>T (p.Leu189=) n.676C>T | |
| 12 | g.102855262G>C | CA386296770 | PAH | c.580C>G (p.Leu194Val) c.565C>G (p.Leu189Val) n.676C>G | |
| 12 | g.102855262G>T | CA386296771 | PAH | c.580C>A (p.Leu194Met) c.565C>A (p.Leu189Met) n.676C>A | |
| 12 | g.102855262delinsTC | CA2695217163 | PAH | c.580delinsGA (p.Leu194AspfsTer6) c.565delinsGA (p.Leu189AspfsTer6) n.676delinsGA | |
| 12 | g.102855264_102855270del | CA2499221403 | PAH | c.574_580del (p.Lys192Ter) c.559_565del (p.Lys187Ter) n.670_676del | ClinVar dbSNP |
| 12 | g.102855263A= | CA2059449601 | PAH | c.579T= (p.Thr193=) c.564T= (p.Thr188=) n.675T= | |
| 12 | g.102855263A>C | CA481578576 | PAH | c.579T>G (p.Thr193=) c.564T>G (p.Thr188=) n.675T>G | |
| 12 | g.102855263A>G | CA6748891 | PAH | c.579T>C (p.Thr193=) c.564T>C (p.Thr188=) n.675T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102855263A>T | CA481578578 | PAH | c.579T>A (p.Thr193=) c.564T>A (p.Thr188=) n.675T>A | |
| 12 | g.102855264G>A | CA16020819 | PAH | c.578C>T (p.Thr193Ile) c.563C>T (p.Thr188Ile) n.674C>T | ClinVar gnomAD v4 |
| 12 | g.102855264G>C | CA386296772 | PAH | c.578C>G (p.Thr193Ser) c.563C>G (p.Thr188Ser) n.674C>G | |
| 12 | g.102855264G>T | CA386296774 | PAH | c.578C>A (p.Thr193Asn) c.563C>A (p.Thr188Asn) n.674C>A | |
| 12 | g.102855265T>A | CA386296776 | PAH | c.577A>T (p.Thr193Ser) c.562A>T (p.Thr188Ser) n.673A>T | dbSNP |
| 12 | g.102855265T>C | CA386296778 | PAH | c.577A>G (p.Thr193Ala) c.562A>G (p.Thr188Ala) n.673A>G | |
| 12 | g.102855265T>G | CA386296779 | PAH | c.577A>C (p.Thr193Pro) c.562A>C (p.Thr188Pro) n.673A>C | |
| 12 | g.102855265T= | CA2059449606 | PAH | c.577A= (p.Thr193=) c.562A= (p.Thr188=) n.673A= | |
| 12 | g.102855266C>A | CA386296781 | PAH | c.576G>T (p.Lys192Asn) c.561G>T (p.Lys187Asn) n.672G>T | COSMIC |
| 12 | g.102855266C= | CA2059449610 | PAH | c.576G= (p.Lys192=) c.561G= (p.Lys187=) n.672G= | |
| 12 | g.102855266C>G | CA386296782 | PAH | c.576G>C (p.Lys192Asn) c.561G>C (p.Lys187Asn) n.672G>C | dbSNP gnomAD v4 |
| 12 | g.102855266C>T | CA481578580 | PAH | c.576G>A (p.Lys192=) c.561G>A (p.Lys187=) n.672G>A | |
| 12 | g.102855267T>A | CA386296784 | PAH | c.575A>T (p.Lys192Met) c.560A>T (p.Lys187Met) n.671A>T | |
| 12 | g.102855267T>C | CA386296786 | PAH | c.575A>G (p.Lys192Arg) c.560A>G (p.Lys187Arg) n.671A>G | gnomAD v4 |
| 12 | g.102855267T>G | CA386296788 | PAH | c.575A>C (p.Lys192Thr) c.560A>C (p.Lys187Thr) n.671A>C | |
| 12 | g.102855268T>A | CA386296790 | PAH | c.574A>T (p.Lys192Ter) c.559A>T (p.Lys187Ter) n.670A>T | |
| 12 | g.102855268T>C | CA242474187 | PAH | c.574A>G (p.Lys192Glu) c.559A>G (p.Lys187Glu) n.670A>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855268T>G | CA386296793 | PAH | c.574A>C (p.Lys192Gln) c.559A>C (p.Lys187Gln) n.670A>C | |
| 12 | g.102855268T= | CA2059449613 | PAH | c.574A= (p.Lys192=) c.559A= (p.Lys187=) n.670A= | |
| 12 | g.102855269G>A | CA481578582 | PAH | c.573C>T (p.Phe191=) c.558C>T (p.Phe186=) n.669C>T | |
| 12 | g.102855269G>C | CA386296795 | PAH | c.573C>G (p.Phe191Leu) c.558C>G (p.Phe186Leu) n.669C>G | gnomAD v4 |
| 12 | g.102855269G>T | CA386296797 | PAH | c.573C>A (p.Phe191Leu) c.558C>A (p.Phe186Leu) n.669C>A | gnomAD v4 |
| 12 | g.102855270A>C | CA386296800 | PAH | c.572T>G (p.Phe191Cys) c.557T>G (p.Phe186Cys) n.668T>G | |
| 12 | g.102855270A>G | CA386296801 | PAH | c.572T>C (p.Phe191Ser) c.557T>C (p.Phe186Ser) n.668T>C | |
| 12 | g.102855270A>T | CA386296803 | PAH | c.572T>A (p.Phe191Tyr) c.557T>A (p.Phe186Tyr) n.668T>A | |
| 12 | g.102855271A>C | CA386296808 | PAH | c.571T>G (p.Phe191Val) c.556T>G (p.Phe186Val) n.667T>G | |
| 12 | g.102855271A>G | CA386296807 | PAH | c.571T>C (p.Phe191Leu) c.556T>C (p.Phe186Leu) n.667T>C | |
| 12 | g.102855271A>T | CA386296805 | PAH | c.571T>A (p.Phe191Ile) c.556T>A (p.Phe186Ile) n.667T>A | |
| 12 | g.102855272C>A | CA481578586 | PAH | c.570G>T (p.Val190=) c.555G>T (p.Val185=) n.666G>T | |
| 12 | g.102855272C>G | CA481578584 | PAH | c.570G>C (p.Val190=) c.555G>C (p.Val185=) n.666G>C | COSMIC |
| 12 | g.102855272C>T | CA481578585 | PAH | c.570G>A (p.Val190=) c.555G>A (p.Val185=) n.666G>A | ClinVar dbSNP |
| 12 | g.102855273A= | CA2059449617 | PAH | c.569T= (p.Val190=) c.554T= (p.Val185=) n.665T= | |
| 12 | g.102855273A>C | CA16020818 | PAH | c.569T>G (p.Val190Gly) c.554T>G (p.Val185Gly) n.665T>G | |
| 12 | g.102855273A>G | CA229631 | PAH | c.569T>C (p.Val190Ala) c.554T>C (p.Val185Ala) n.665T>C | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 12 | g.102855273A>T | CA386296811 | PAH | c.569T>A (p.Val190Glu) c.554T>A (p.Val185Glu) n.665T>A | gnomAD v4 |
| 12 | g.102855274C>A | CA386296815 | PAH | c.568G>T (p.Val190Leu) c.553G>T (p.Val185Leu) n.664G>T | |
| 12 | g.102855274C= | CA2059449624 | PAH | c.568G= (p.Val190=) c.553G= (p.Val185=) n.664G= | |
| 12 | g.102855274C>G | CA386296818 | PAH | c.568G>C (p.Val190Leu) c.553G>C (p.Val185Leu) n.664G>C | |
| 12 | g.102855274C>T | CA267660 | PAH | c.568G>A (p.Val190Met) c.553G>A (p.Val185Met) n.664G>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855275T>A | CA481578588 | PAH | c.567A>T (p.Thr189=) c.552A>T (p.Thr184=) n.663A>T | gnomAD v4 |
| 12 | g.102855275T>C | CA481578589 | PAH | c.567A>G (p.Thr189=) c.552A>G (p.Thr184=) n.663A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102855275T>G | CA481578590 | PAH | c.567A>C (p.Thr189=) c.552A>C (p.Thr184=) n.663A>C | |
| 12 | g.102855275T= | CA2059449628 | PAH | c.567A= (p.Thr189=) c.552A= (p.Thr184=) n.663A= | |
| 12 | g.102855276G>A | CA386296819 | PAH | c.566C>T (p.Thr189Ile) c.551C>T (p.Thr184Ile) n.662C>T | COSMIC |
| 12 | g.102855276G>C | CA386296823 | PAH | c.566C>G (p.Thr189Arg) c.551C>G (p.Thr184Arg) n.662C>G | ClinVar dbSNP |
| 12 | g.102855276G= | CA2059449633 | PAH | c.566C= (p.Thr189=) c.551C= (p.Thr184=) n.662C= | |
| 12 | g.102855276G>T | CA386296821 | PAH | c.566C>A (p.Thr189Lys) c.551C>A (p.Thr184Lys) n.662C>A | |
| 12 | g.102855277T>A | CA386296825 | PAH | c.565A>T (p.Thr189Ser) c.550A>T (p.Thr184Ser) n.661A>T | |
| 12 | g.102855277T>C | CA386296829 | PAH | c.565A>G (p.Thr189Ala) c.550A>G (p.Thr184Ala) n.661A>G | |
| 12 | g.102855277T>G | CA386296827 | PAH | c.565A>C (p.Thr189Pro) c.550A>C (p.Thr184Pro) n.661A>C | |
| 12 | g.102855278G>A | CA6748892 | PAH | c.564C>T (p.Gly188=) c.549C>T (p.Gly183=) n.660C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102855278G>C | CA481578594 | PAH | c.564C>G (p.Gly188=) c.549C>G (p.Gly183=) n.660C>G | |
| 12 | g.102855278G= | CA2059449644 | PAH | c.564C= (p.Gly188=) c.549C= (p.Gly183=) n.660C= | |
| 12 | g.102855278G>T | CA481578593 | PAH | c.564C>A (p.Gly188=) c.549C>A (p.Gly183=) n.660C>A | gnomAD v4 |
| 12 | g.102855278_102855279delinsGC | CA2059449640 | PAH | c.563_564delinsGC (p.Gly188=) c.548_549delinsGC (p.Gly183=) n.659_660delinsGC | |
| 12 | g.102855279C>A | CA386296833 | PAH | c.563G>T (p.Gly188Val) c.548G>T (p.Gly183Val) n.659G>T n.584G>T | ClinVar dbSNP |
| 12 | g.102855279C= | CA2059449657 | PAH | c.563G= (p.Gly188=) c.548G= (p.Gly183=) n.659G= n.584G= | |
| 12 | g.102855279C>G | CA6748893 | PAH | c.563G>C (p.Gly188Ala) c.548G>C (p.Gly183Ala) n.659G>C n.584G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102855279C>T | CA229628 | PAH | c.563G>A (p.Gly188Asp) c.548G>A (p.Gly183Asp) n.659G>A n.584G>A | ClinVar dbSNP |
| 12 | g.102855282del | CA229630 | PAH | c.563del (p.Gly188AlafsTer7) c.548del (p.Gly183AlafsTer7) n.659del n.584del | ClinVar dbSNP |
| 12 | g.102855280C>A | CA386296843 | PAH | c.562G>T (p.Gly188Cys) c.547G>T (p.Gly183Cys) n.658G>T n.583G>T | |
| 12 | g.102855280C>G | CA386296840 | PAH | c.562G>C (p.Gly188Arg) c.547G>C (p.Gly183Arg) n.658G>C n.583G>C | |
| 12 | g.102855280C>T | CA386296839 | PAH | c.562G>A (p.Gly188Ser) c.547G>A (p.Gly183Ser) n.658G>A n.583G>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855281C>A | CA386296845 | PAH | c.561G>T (p.Trp187Cys) c.546G>T (p.Trp182Cys) n.657G>T n.582G>T | |
| 12 | g.102855281C= | CA2059449667 | PAH | c.561G= (p.Trp187=) c.546G= (p.Trp182=) n.657G= n.582G= | |
| 12 | g.102855281C>G | CA229626 | PAH | c.561G>C (p.Trp187Cys) c.546G>C (p.Trp182Cys) n.657G>C n.582G>C | ClinVar dbSNP |
| 12 | g.102855281C>T | CA229624 | PAH | c.561G>A (p.Trp187Ter) c.546G>A (p.Trp182Ter) n.657G>A n.582G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855282C>A | CA386296850 | PAH | c.560G>T (p.Trp187Leu) c.545G>T (p.Trp182Leu) n.656G>T n.581G>T | |
| 12 | g.102855282C>G | CA386296852 | PAH | c.560G>C (p.Trp187Ser) c.545G>C (p.Trp182Ser) n.656G>C n.581G>C | |
| 12 | g.102855282C>T | CA16020817 | PAH | c.560G>A (p.Trp187Ter) c.545G>A (p.Trp182Ter) n.656G>A n.581G>A | |
| 12 | g.102855282_102855284delinsCAT | CA2059449676 | PAH | c.558_560delinsATG (p.Thr186=) c.543_545delinsATG (p.Thr181=) n.654_656delinsATG n.579_581delinsATG | |
| 12 | g.102855283A= | CA2059449687 | PAH | c.559T= (p.Trp187=) c.544T= (p.Trp182=) n.655T= n.580T= | |
| 12 | g.102855283A>C | CA386296858 | PAH | c.559T>G (p.Trp187Gly) c.544T>G (p.Trp182Gly) n.655T>G n.580T>G | |
| 12 | g.102855283A>G | CA229622 | PAH | c.559T>C (p.Trp187Arg) c.544T>C (p.Trp182Arg) n.655T>C n.580T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102855283A>T | CA386296857 | PAH | c.559T>A (p.Trp187Arg) c.544T>A (p.Trp182Arg) n.655T>A n.580T>A | |
| 12 | g.102855283_102855284del | CA229621 | PAH | c.558_559del (p.Trp187GlyfsTer12) c.543_544del (p.Trp182GlyfsTer12) n.654_655del n.579_580del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855284del | CA16020816 | PAH | c.558del (p.Trp187GlyfsTer8) c.543del (p.Trp182GlyfsTer8) n.654del n.579del | |
| 12 | g.102855284T>A | CA481578598 | PAH | c.558A>T (p.Thr186=) c.543A>T (p.Thr181=) n.654A>T n.579A>T | gnomAD v4 |
| 12 | g.102855284T>C | CA481578599 | PAH | c.558A>G (p.Thr186=) c.543A>G (p.Thr181=) n.654A>G n.579A>G | |
| 12 | g.102855284T>G | CA481578600 | PAH | c.558A>C (p.Thr186=) c.543A>C (p.Thr181=) n.654A>C n.579A>C | |
| 12 | g.102855285G>A | CA386296861 | PAH | c.557C>T (p.Thr186Ile) c.542C>T (p.Thr181Ile) n.653C>T n.578C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102855285G>C | CA386296863 | PAH | c.557C>G (p.Thr186Arg) c.542C>G (p.Thr181Arg) n.653C>G n.578C>G | gnomAD v4 |
| 12 | g.102855285G= | CA2059449692 | PAH | c.557C= (p.Thr186=) c.542C= (p.Thr181=) n.653C= n.578C= | |
| 12 | g.102855285G>T | CA386296865 | PAH | c.557C>A (p.Thr186Lys) c.542C>A (p.Thr181Lys) n.653C>A n.578C>A | |
| 12 | g.102855285_102855286delinsGT | CA2059449689 | PAH | c.556_557delinsAC (p.Thr186=) c.541_542delinsAC (p.Thr181=) n.652_653delinsAC n.577_578delinsAC |