| 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.102855316G>A | CA275338 | PAH | c.526C>T (p.Arg176Ter) c.511C>T (p.Arg171Ter) n.622C>T n.547C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855316G>C | CA386297012 | PAH | c.526C>G (p.Arg176Gly) c.511C>G (p.Arg171Gly) n.622C>G n.547C>G | |
| 12 | g.102855316G= | CA2059449829 | PAH | c.526C= (p.Arg176=) c.511C= (p.Arg171=) n.622C= n.547C= | |
| 12 | g.102855316G>T | CA481578629 | PAH | c.526C>A (p.Arg176=) c.511C>A (p.Arg171=) n.622C>A n.547C>A | ClinVar gnomAD v4 |
| 12 | g.102855317A>C | CA481578630 | PAH | c.525T>G (p.Pro175=) c.510T>G (p.Pro170=) n.621T>G n.546T>G | |
| 12 | g.102855317A>G | CA481578631 | PAH | c.525T>C (p.Pro175=) c.510T>C (p.Pro170=) n.621T>C n.546T>C | |
| 12 | g.102855317A>T | CA481578632 | PAH | c.525T>A (p.Pro175=) c.510T>A (p.Pro170=) n.621T>A n.546T>A | |
| 12 | g.102855318G>A | CA386297015 | PAH | c.524C>T (p.Pro175Leu) c.509C>T (p.Pro170Leu) n.620C>T n.545C>T | COSMIC |
| 12 | g.102855318G>C | CA386297017 | PAH | c.524C>G (p.Pro175Arg) c.509C>G (p.Pro170Arg) n.620C>G n.545C>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102855318G= | CA2059449835 | PAH | c.524C= (p.Pro175=) c.509C= (p.Pro170=) n.620C= n.545C= | |
| 12 | g.102855318G>T | CA386297019 | PAH | c.524C>A (p.Pro175His) c.509C>A (p.Pro170His) n.620C>A n.545C>A | |
| 12 | g.102855319G>A | CA16020810 | PAH | c.523C>T (p.Pro175Ser) c.508C>T (p.Pro170Ser) n.619C>T n.544C>T | ClinVar dbSNP |
| 12 | g.102855319G>C | CA229605 | PAH | c.523C>G (p.Pro175Ala) c.508C>G (p.Pro170Ala) n.619C>G n.544C>G | ClinVar dbSNP |
| 12 | g.102855319G= | CA2059449844 | PAH | c.523C= (p.Pro175=) c.508C= (p.Pro170=) n.619C= n.544C= | |
| 12 | g.102855319G>T | CA386297022 | PAH | c.523C>A (p.Pro175Thr) c.508C>A (p.Pro170Thr) n.619C>A n.544C>A | |
| 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 |