| 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.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.102855320G>A | CA481578633 | PAH | c.522C>T (p.Ile174=) c.507C>T (p.Ile169=) n.618C>T n.543C>T | COSMIC |
| 12 | g.102855320G>C | CA386297026 | PAH | c.522C>G (p.Ile174Met) c.507C>G (p.Ile169Met) n.618C>G n.543C>G | |
| 12 | g.102855320G>T | CA481578634 | PAH | c.522C>A (p.Ile174=) c.507C>A (p.Ile169=) n.618C>A n.543C>A | |
| 12 | g.102855321A= | CA2059449854 | PAH | c.521T= (p.Ile174=) c.506T= (p.Ile169=) n.617T= n.542T= | |
| 12 | g.102855321A>C | CA386297029 | PAH | c.521T>G (p.Ile174Ser) c.506T>G (p.Ile169Ser) n.617T>G n.542T>G | |
| 12 | g.102855321A>G | CA229604 | PAH | c.521T>C (p.Ile174Thr) c.506T>C (p.Ile169Thr) n.617T>C n.542T>C | ClinVar dbSNP |
| 12 | g.102855321A>T | CA6748896 | PAH | c.521T>A (p.Ile174Asn) c.506T>A (p.Ile169Asn) n.617T>A n.542T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855322T>A | CA386297033 | PAH | c.520A>T (p.Ile174Phe) c.505A>T (p.Ile169Phe) n.616A>T n.541A>T | |
| 12 | g.102855322T>C | CA229603 | PAH | c.520A>G (p.Ile174Val) c.505A>G (p.Ile169Val) n.616A>G n.541A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102855322T>G | CA386297036 | PAH | c.520A>C (p.Ile174Leu) c.505A>C (p.Ile169Leu) n.616A>C n.541A>C | |
| 12 | g.102855322T= | CA2059449865 | PAH | c.520A= (p.Ile174=) c.505A= (p.Ile169=) n.616A= n.541A= | |
| 12 | g.102855323G>A | CA481578635 | PAH | c.519C>T (p.Pro173=) c.504C>T (p.Pro168=) n.615C>T n.540C>T | gnomAD v4 |
| 12 | g.102855323G>C | CA481578636 | PAH | c.519C>G (p.Pro173=) c.504C>G (p.Pro168=) n.615C>G n.540C>G | |
| 12 | g.102855323G>T | CA481578637 | PAH | c.519C>A (p.Pro173=) c.504C>A (p.Pro168=) n.615C>A n.540C>A | |
| 12 | g.102855324G>A | CA386297038 | PAH | c.518C>T (p.Pro173Leu) c.503C>T (p.Pro168Leu) n.614C>T n.539C>T | gnomAD v4 |
| 12 | g.102855324G>C | CA386297039 | PAH | c.518C>G (p.Pro173Arg) c.503C>G (p.Pro168Arg) n.614C>G n.539C>G | |
| 12 | g.102855324G>T | CA386297041 | PAH | c.518C>A (p.Pro173His) c.503C>A (p.Pro168His) n.614C>A n.539C>A | |
| 12 | g.102855325G>A | CA386297043 | PAH | c.517C>T (p.Pro173Ser) c.502C>T (p.Pro168Ser) n.613C>T n.538C>T | gnomAD v4 |
| 12 | g.102855325G>C | CA386297044 | PAH | c.517C>G (p.Pro173Ala) c.502C>G (p.Pro168Ala) n.613C>G n.538C>G | |
| 12 | g.102855325G= | CA2059449872 | PAH | c.517C= (p.Pro173=) c.502C= (p.Pro168=) n.613C= n.538C= | |
| 12 | g.102855325G>T | CA229602 | PAH | c.517C>A (p.Pro173Thr) c.502C>A (p.Pro168Thr) n.613C>A n.538C>A | ClinVar dbSNP |
| 12 | g.102855326C>A | CA6748897 | PAH | c.516G>T (p.Gln172His) c.501G>T (p.Gln167His) n.612G>T n.537G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855326C= | CA2059449878 | PAH | c.516G= (p.Gln172=) c.501G= (p.Gln167=) n.612G= n.537G= | |
| 12 | g.102855326C>G | CA386297046 | PAH | c.516G>C (p.Gln172His) c.501G>C (p.Gln167His) n.612G>C n.537G>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855326C>T | CA481578638 | PAH | c.516G>A (p.Gln172=) c.501G>A (p.Gln167=) n.612G>A n.537G>A | |
| 12 | g.102855327T>A | CA386297047 | PAH | c.515A>T (p.Gln172Leu) c.500A>T (p.Gln167Leu) n.611A>T n.536A>T | |
| 12 | g.102855327T>C | CA386297051 | PAH | c.515A>G (p.Gln172Arg) c.500A>G (p.Gln167Arg) n.611A>G n.536A>G | ClinVar |
| 12 | g.102855327T>G | CA386297049 | PAH | c.515A>C (p.Gln172Pro) c.500A>C (p.Gln167Pro) n.611A>C n.536A>C | |
| 12 | g.102855328G>A | CA229600 | PAH | c.514C>T (p.Gln172Ter) c.499C>T (p.Gln167Ter) n.610C>T n.535C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855328G>C | CA386297056 | PAH | c.514C>G (p.Gln172Glu) c.499C>G (p.Gln167Glu) n.610C>G n.535C>G | |
| 12 | g.102855328G= | CA2059449889 | PAH | c.514C= (p.Gln172=) c.499C= (p.Gln167=) n.610C= n.535C= | |
| 12 | g.102855328G>T | CA386297054 | PAH | c.514C>A (p.Gln172Lys) c.499C>A (p.Gln167Lys) n.610C>A n.535C>A | |
| 12 | g.102855329C>A | CA6748898 | PAH | c.513G>T (p.Gly171=) c.498G>T (p.Gly166=) n.609G>T n.534G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855329C= | CA2059449894 | PAH | c.513G= (p.Gly171=) c.498G= (p.Gly166=) n.609G= n.534G= | |
| 12 | g.102855329C>G | CA481578639 | PAH | c.513G>C (p.Gly171=) c.498G>C (p.Gly166=) n.609G>C n.534G>C | |
| 12 | g.102855329C>T | CA481578640 | PAH | c.513G>A (p.Gly171=) c.498G>A (p.Gly166=) n.609G>A n.534G>A | |
| 12 | g.102855330C>A | CA386297060 | PAH | c.512G>T (p.Gly171Val) c.497G>T (p.Gly166Val) n.608G>T n.533G>T | |
| 12 | g.102855330C= | CA2059449899 | PAH | c.512G= (p.Gly171=) c.497G= (p.Gly166=) n.608G= n.533G= | |
| 12 | g.102855330C>G | CA229599 | PAH | c.512G>C (p.Gly171Ala) c.497G>C (p.Gly166Ala) n.608G>C n.533G>C | ClinVar dbSNP |
| 12 | g.102855330C>T | CA16020809 | PAH | c.512G>A (p.Gly171Glu) c.497G>A (p.Gly166Glu) n.608G>A n.533G>A | |
| 12 | g.102855331C>A | CA6748899 | PAH | c.511G>T (p.Gly171Trp) c.496G>T (p.Gly166Trp) n.607G>T n.532G>T | dbSNP ExAC gnomAD v4 |
| 12 | g.102855331C= | CA2059449904 | PAH | c.511G= (p.Gly171=) c.496G= (p.Gly166=) n.607G= n.532G= | |
| 12 | g.102855331C>G | CA386297069 | PAH | c.511G>C (p.Gly171Arg) c.496G>C (p.Gly166Arg) n.607G>C n.532G>C | ClinVar dbSNP |
| 12 | g.102855331C>T | CA229598 | PAH | c.511G>A (p.Gly171Arg) c.496G>A (p.Gly166Arg) n.607G>A n.532G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102855332A= | CA2059449918 | PAH | c.510T= (p.His170=) c.495T= (p.His165=) n.606T= n.531T= | |
| 12 | g.102855332A>C | CA6748900 | PAH | c.510T>G (p.His170Gln) c.495T>G (p.His165Gln) n.606T>G n.531T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855332A>G | CA481578641 | PAH | c.510T>C (p.His170=) c.495T>C (p.His165=) n.606T>C n.531T>C |