| 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.102852868del | CA16041559 | PAH | c.790del (p.His264ThrfsTer?) c.775del (p.His259ThrfsTer?) n.549del | ClinVar dbSNP |
| 12 | g.102852868G>A | CA481331472 | PAH | c.789C>T (p.Phe263=) c.774C>T (p.Phe258=) n.548C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102852868G>C | CA229760 | PAH | c.789C>G (p.Phe263Leu) c.774C>G (p.Phe258Leu) n.548C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102852868G= | CA2059446416 | PAH | c.789C= (p.Phe263=) c.774C= (p.Phe258=) n.548C= | |
| 12 | g.102852868G>T | CA386295393 | PAH | c.789C>A (p.Phe263Leu) c.774C>A (p.Phe258Leu) n.548C>A | ClinVar dbSNP |
| 12 | g.102852869A= | CA2059446426 | PAH | c.788T= (p.Phe263=) c.773T= (p.Phe258=) n.547T= | |
| 12 | g.102852869A>C | CA386295396 | PAH | c.788T>G (p.Phe263Cys) c.773T>G (p.Phe258Cys) n.547T>G | |
| 12 | g.102852869A>G | CA16020857 | PAH | c.788T>C (p.Phe263Ser) c.773T>C (p.Phe258Ser) n.547T>C | ClinVar dbSNP |
| 12 | g.102852869A>T | CA386295401 | PAH | c.788T>A (p.Phe263Tyr) c.773T>A (p.Phe258Tyr) n.547T>A | |
| 12 | g.102852870A>C | CA386295411 | PAH | c.787T>G (p.Phe263Val) c.772T>G (p.Phe258Val) n.546T>G | |
| 12 | g.102852870A>G | CA386295406 | PAH | c.787T>C (p.Phe263Leu) c.772T>C (p.Phe258Leu) n.546T>C | |
| 12 | g.102852870A>T | CA386295404 | PAH | c.787T>A (p.Phe263Ile) c.772T>A (p.Phe258Ile) n.546T>A | |
| 12 | g.102852871G>A | CA242471869 | PAH | c.786C>T (p.Val262=) c.771C>T (p.Val257=) n.545C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102852871G>C | CA481331475 | PAH | c.786C>G (p.Val262=) c.771C>G (p.Val257=) n.545C>G | |
| 12 | g.102852871G= | CA2059446431 | PAH | c.786C= (p.Val262=) c.771C= (p.Val257=) n.545C= | |
| 12 | g.102852871G>T | CA481331474 | PAH | c.786C>A (p.Val262=) c.771C>A (p.Val257=) n.545C>A | |
| 12 | g.102852872A= | CA2059446437 | PAH | c.785T= (p.Val262=) c.770T= (p.Val257=) n.544T= | |
| 12 | g.102852872A>C | CA267671 | PAH | c.785T>G (p.Val262Gly) c.770T>G (p.Val257Gly) n.544T>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852872A>G | CA386295423 | PAH | c.785T>C (p.Val262Ala) c.770T>C (p.Val257Ala) n.544T>C | |
| 12 | g.102852872A>T | CA386295428 | PAH | c.785T>A (p.Val262Asp) c.770T>A (p.Val257Asp) n.544T>A | |
| 12 | g.102852873C>A | CA386295432 | PAH | c.784G>T (p.Val262Phe) c.769G>T (p.Val257Phe) n.543G>T | |
| 12 | g.102852873C>G | CA386295436 | PAH | c.784G>C (p.Val262Leu) c.769G>C (p.Val257Leu) n.543G>C | |
| 12 | g.102852873C>T | CA386295439 | PAH | c.784G>A (p.Val262Ile) c.769G>A (p.Val257Ile) n.543G>A | |
| 12 | g.102852874T>A | CA481331477 | PAH | c.783A>T (p.Arg261=) c.768A>T (p.Arg256=) n.542A>T | |
| 12 | g.102852874T>C | CA481331478 | PAH | c.783A>G (p.Arg261=) c.768A>G (p.Arg256=) n.542A>G | ClinVar dbSNP |
| 12 | g.102852874T>G | CA481331481 | PAH | c.783A>C (p.Arg261=) c.768A>C (p.Arg256=) n.542A>C | |
| 12 | g.102852875C>A | CA386295444 | PAH | c.782G>T (p.Arg261Leu) c.767G>T (p.Arg256Leu) n.541G>T | ClinVar dbSNP |
| 12 | g.102852875C= | CA2059446444 | PAH | c.782G= (p.Arg261=) c.767G= (p.Arg256=) n.541G= | |
| 12 | g.102852875C>G | CA229759 | PAH | c.782G>C (p.Arg261Pro) c.767G>C (p.Arg256Pro) n.541G>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852875C>T | CA251528 | PAH | c.782G>A (p.Arg261Gln) c.767G>A (p.Arg256Gln) n.541G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.102852875_102852876delinsGA | CA2695217155 | PAH | c.781_782delinsTC (p.Arg261Ser) c.766_767delinsTC (p.Arg256Ser) n.540_541delinsTC | |
| 12 | g.102852876G>A | CA229757 | PAH | c.781C>T (p.Arg261Ter) c.766C>T (p.Arg256Ter) n.540C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.102852876G>C | CA269921 | PAH | c.781C>G (p.Arg261Gly) c.766C>G (p.Arg256Gly) n.540C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102852876G= | CA2059446456 | PAH | c.781C= (p.Arg261=) c.766C= (p.Arg256=) n.540C= | |
| 12 | g.102852876G>T | CA481331483 | PAH | c.781C>A (p.Arg261=) c.766C>A (p.Arg256=) n.540C>A | |
| 12 | g.102852877G>A | CA481331484 | PAH | c.780C>T (p.Phe260=) c.765C>T (p.Phe255=) n.539C>T | |
| 12 | g.102852877G>C | CA386295463 | PAH | c.780C>G (p.Phe260Leu) c.765C>G (p.Phe255Leu) n.539C>G | ClinVar |
| 12 | g.102852877G>T | CA386295468 | PAH | c.780C>A (p.Phe260Leu) c.765C>A (p.Phe255Leu) n.539C>A | |
| 12 | g.102852878A>C | CA386295474 | PAH | c.779T>G (p.Phe260Cys) c.764T>G (p.Phe255Cys) n.538T>G | |
| 12 | g.102852878A>G | CA386295480 | PAH | c.779T>C (p.Phe260Ser) c.764T>C (p.Phe255Ser) n.538T>C | |
| 12 | g.102852878A>T | CA386295477 | PAH | c.779T>A (p.Phe260Tyr) c.764T>A (p.Phe255Tyr) n.538T>A | |
| 12 | g.102852879A>C | CA386295487 | PAH | c.778T>G (p.Phe260Val) c.763T>G (p.Phe255Val) n.537T>G | |
| 12 | g.102852879A>G | CA386295490 | PAH | c.778T>C (p.Phe260Leu) c.763T>C (p.Phe255Leu) n.537T>C | |
| 12 | g.102852879A>T | CA16020856 | PAH | c.778T>A (p.Phe260Ile) c.763T>A (p.Phe255Ile) n.537T>A | |
| 12 | g.102852880G>A | CA481331490 | PAH | c.777C>T (p.Ala259=) c.762C>T (p.Ala254=) n.536C>T | gnomAD v4 COSMIC |
| 12 | g.102852880G>C | CA481331489 | PAH | c.777C>G (p.Ala259=) c.762C>G (p.Ala254=) n.536C>G | |
| 12 | g.102852880G>T | CA481331488 | PAH | c.777C>A (p.Ala259=) c.762C>A (p.Ala254=) n.536C>A | |
| 12 | g.102852881G>A | CA229756 | PAH | c.776C>T (p.Ala259Val) c.761C>T (p.Ala254Val) n.535C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852881G>C | CA386295500 | PAH | c.776C>G (p.Ala259Gly) c.761C>G (p.Ala254Gly) n.535C>G | ClinVar |