| 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.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 |
| 12 | g.102852881G= | CA2059446459 | PAH | c.776C= (p.Ala259=) c.761C= (p.Ala254=) n.535C= | |
| 12 | g.102852881G>T | CA386295503 | PAH | c.776C>A (p.Ala259Asp) c.761C>A (p.Ala254Asp) n.535C>A | |
| 12 | g.102852882C>A | CA386295507 | PAH | c.775G>T (p.Ala259Ser) c.760G>T (p.Ala254Ser) n.534G>T | |
| 12 | g.102852882C= | CA2059446464 | PAH | c.775G= (p.Ala259=) c.760G= (p.Ala254=) n.534G= | |
| 12 | g.102852882C>G | CA386295510 | PAH | c.775G>C (p.Ala259Pro) c.760G>C (p.Ala254Pro) n.534G>C | |
| 12 | g.102852882C>T | CA229755 | PAH | c.775G>A (p.Ala259Thr) c.760G>A (p.Ala254Thr) n.534G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102852883C>A | CA481331495 | PAH | c.774G>T (p.Leu258=) c.759G>T (p.Leu253=) n.533G>T | ClinVar dbSNP |
| 12 | g.102852883C>G | CA481331497 | PAH | c.774G>C (p.Leu258=) c.759G>C (p.Leu253=) n.533G>C | |
| 12 | g.102852883C>T | CA481331499 | PAH | c.774G>A (p.Leu258=) c.759G>A (p.Leu253=) n.533G>A | ClinVar dbSNP |
| 12 | g.102852884A= | CA2059446471 | PAH | c.773T= (p.Leu258=) c.758T= (p.Leu253=) n.532T= | |
| 12 | g.102852884A>C | CA386295520 | PAH | c.773T>G (p.Leu258Arg) c.758T>G (p.Leu253Arg) n.532T>G | |
| 12 | g.102852884A>G | CA16020855 | PAH | c.773T>C (p.Leu258Pro) c.758T>C (p.Leu253Pro) n.532T>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852884A>T | CA386295526 | PAH | c.773T>A (p.Leu258Gln) c.758T>A (p.Leu253Gln) n.532T>A | |
| 12 | g.102852885G>A | CA6748843 | PAH | c.772C>T (p.Leu258=) c.757C>T (p.Leu253=) n.531C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852885G>C | CA386295543 | PAH | c.772C>G (p.Leu258Val) c.757C>G (p.Leu253Val) n.531C>G | |
| 12 | g.102852885G= | CA2059446476 | PAH | c.772C= (p.Leu258=) c.757C= (p.Leu253=) n.531C= | |
| 12 | g.102852885G>T | CA386295529 | PAH | c.772C>A (p.Leu258Met) c.757C>A (p.Leu253Met) n.531C>A | |
| 12 | g.102852886G>A | CA6748844 | PAH | c.771C>T (p.Gly257=) c.756C>T (p.Gly252=) n.530C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852886G>C | CA481331502 | PAH | c.771C>G (p.Gly257=) c.756C>G (p.Gly252=) n.530C>G | |
| 12 | g.102852886G= | CA2059446479 | PAH | c.771C= (p.Gly257=) c.756C= (p.Gly252=) n.530C= | |
| 12 | g.102852886G>T | CA481331503 | PAH | c.771C>A (p.Gly257=) c.756C>A (p.Gly252=) n.530C>A | ClinVar dbSNP |
| 12 | g.102852887C>A | CA229753 | PAH | c.770G>T (p.Gly257Val) c.755G>T (p.Gly252Val) n.529G>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852887C= | CA2059446486 | PAH | c.770G= (p.Gly257=) c.755G= (p.Gly252=) n.529G= | |
| 12 | g.102852887C>G | CA386295550 | PAH | c.770G>C (p.Gly257Ala) c.755G>C (p.Gly252Ala) n.529G>C | |
| 12 | g.102852887C>T | CA229751 | PAH | c.770G>A (p.Gly257Asp) c.755G>A (p.Gly252Asp) n.529G>A | ClinVar dbSNP |
| 12 | g.102852888C>A | CA229750 | PAH | c.769G>T (p.Gly257Cys) c.754G>T (p.Gly252Cys) n.528G>T | ClinVar dbSNP |
| 12 | g.102852888C= | CA2059446491 | PAH | c.769G= (p.Gly257=) c.754G= (p.Gly252=) n.528G= | |
| 12 | g.102852888C>G | CA386295558 | PAH | c.769G>C (p.Gly257Arg) c.754G>C (p.Gly252Arg) n.528G>C | |
| 12 | g.102852888C>T | CA229748 | PAH | c.769G>A (p.Gly257Ser) c.754G>A (p.Gly252Ser) n.528G>A | ClinVar dbSNP |
| 12 | g.102852889A= | CA2059446501 | PAH | c.768T= (p.Gly256=) c.753T= (p.Gly251=) n.527T= |