| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102855129del | CA2620526233 | PAH | c.706+8del (n.706+8del) c.691+8del (n.691+8del) n.810del | gnomAD v4 |
| 12 | g.102855129G>T | CA2575266910 | PAH | c.706+7C>A (n.706+7C>A) c.691+7C>A (n.691+7C>A) n.809C>A | gnomAD v4 |
| 12 | g.102855131C= | CA2059449018 | PAH | c.706+5G= (n.706+5G=) c.691+5G= (n.691+5G=) n.807G= | |
| 12 | g.102855131C>G | CA607598060 | PAH | c.706+5G>C (n.706+5G>C) c.691+5G>C (n.691+5G>C) n.807G>C | dbSNP gnomAD v2 |
| 12 | g.102855131C>T | CA1139532543 | PAH | c.706+5G>A (n.706+5G>A) c.691+5G>A (n.691+5G>A) n.807G>A | ClinVar dbSNP |
| 12 | g.102855134A>C | CA386296530 | PAH | c.706+2T>G (n.706+2T>G) c.691+2T>G (n.691+2T>G) n.804T>G | |
| 12 | g.102855134A>G | CA386296531 | PAH | c.706+2T>C (n.706+2T>C) c.691+2T>C (n.691+2T>C) n.804T>C | |
| 12 | g.102855134A>T | CA386296532 | PAH | c.706+2T>A (n.706+2T>A) c.691+2T>A (n.691+2T>A) n.804T>A | |
| 12 | g.102855135C>A | CA386296534 | PAH | c.706+1G>T (n.706+1G>T) c.691+1G>T (n.691+1G>T) n.803G>T | |
| 12 | g.102855135C>G | CA386296535 | PAH | c.706+1G>C (n.706+1G>C) c.691+1G>C (n.691+1G>C) n.803G>C | |
| 12 | g.102855135C>T | CA386296533 | PAH | c.706+1G>A (n.706+1G>A) c.691+1G>A (n.691+1G>A) n.803G>A | |
| 12 | g.102855136T>A | CA386296536 | PAH | c.706A>T (p.Thr236Ser) c.691A>T (p.Thr231Ser) n.802A>T c.706A>T (p.Ile236Phe) | |
| 12 | g.102855136T>C | CA386296537 | PAH | c.706A>G (p.Thr236Ala) c.691A>G (p.Thr231Ala) n.802A>G c.706A>G (p.Ile236Val) | |
| 12 | g.102855136T>G | CA386296538 | PAH | c.706A>C (p.Thr236Pro) c.691A>C (p.Thr231Pro) n.802A>C c.706A>C (p.Ile236Leu) | |
| 12 | g.102855137C>A | CA386296539 | PAH | c.705G>T (p.Gln235His) c.690G>T (p.Gln230His) n.801G>T | dbSNP |
| 12 | g.102855137C>G | CA386296540 | PAH | c.705G>C (p.Gln235His) c.690G>C (p.Gln230His) n.801G>C | |
| 12 | g.102855137C>T | CA481578364 | PAH | c.705G>A (p.Gln235=) c.690G>A (p.Gln230=) n.801G>A | |
| 12 | g.102855138T>A | CA386296541 | PAH | c.704A>T (p.Gln235Leu) c.689A>T (p.Gln230Leu) n.800A>T | |
| 12 | g.102855138T>C | CA386296542 | PAH | c.704A>G (p.Gln235Arg) c.689A>G (p.Gln230Arg) n.800A>G | |
| 12 | g.102855138T>G | CA229700 | PAH | c.704A>C (p.Gln235Pro) c.689A>C (p.Gln230Pro) n.800A>C | ClinVar dbSNP |
| 12 | g.102855138T= | CA2059449022 | PAH | c.704A= (p.Gln235=) c.689A= (p.Gln230=) n.800A= | |
| 12 | g.102855139G>A | CA16020845 | PAH | c.703C>T (p.Gln235Ter) c.688C>T (p.Gln230Ter) n.799C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102855139G>C | CA386296543 | PAH | c.703C>G (p.Gln235Glu) c.688C>G (p.Gln230Glu) n.799C>G | |
| 12 | g.102855139G= | CA2059449026 | PAH | c.703C= (p.Gln235=) c.688C= (p.Gln230=) n.799C= | |
| 12 | g.102855139G>T | CA386296544 | PAH | c.703C>A (p.Gln235Lys) c.688C>A (p.Gln230Lys) n.799C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102855140C>A | CA481578367 | PAH | c.702G>T (p.Leu234=) c.687G>T (p.Leu229=) n.798G>T | gnomAD v4 |
| 12 | g.102855140C= | CA2059449030 | PAH | c.702G= (p.Leu234=) c.687G= (p.Leu229=) n.798G= | |
| 12 | g.102855140C>G | CA481578368 | PAH | c.702G>C (p.Leu234=) c.687G>C (p.Leu229=) n.798G>C | |
| 12 | g.102855140C>T | CA242473833 | PAH | c.702G>A (p.Leu234=) c.687G>A (p.Leu229=) n.798G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855141A>C | CA386296546 | PAH | c.701T>G (p.Leu234Arg) c.686T>G (p.Leu229Arg) n.797T>G | |
| 12 | g.102855141A>G | CA386296547 | PAH | c.701T>C (p.Leu234Pro) c.686T>C (p.Leu229Pro) n.797T>C | |
| 12 | g.102855141A>T | CA386296545 | PAH | c.701T>A (p.Leu234Gln) c.686T>A (p.Leu229Gln) n.797T>A | |
| 12 | g.102855142G>A | CA481578369 | PAH | c.700C>T (p.Leu234=) c.685C>T (p.Leu229=) n.796C>T | gnomAD v4 |
| 12 | g.102855142G>C | CA386296548 | PAH | c.700C>G (p.Leu234Val) c.685C>G (p.Leu229Val) n.796C>G | |
| 12 | g.102855142G>T | CA386296549 | PAH | c.700C>A (p.Leu234Met) c.685C>A (p.Leu229Met) n.796C>A | |
| 12 | g.102855143G>A | CA481578371 | PAH | c.699C>T (p.Phe233=) c.684C>T (p.Phe228=) n.795C>T | dbSNP |
| 12 | g.102855143G>C | CA16020844 | PAH | c.699C>G (p.Phe233Leu) c.684C>G (p.Phe228Leu) n.795C>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855143G= | CA2059449037 | PAH | c.699C= (p.Phe233=) c.684C= (p.Phe228=) n.795C= | |
| 12 | g.102855143G>T | CA229699 | PAH | c.699C>A (p.Phe233Leu) c.684C>A (p.Phe228Leu) n.795C>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855144A= | CA2059449047 | PAH | c.698T= (p.Phe233=) c.683T= (p.Phe228=) n.794T= | |
| 12 | g.102855144A>C | CA386296552 | PAH | c.698T>G (p.Phe233Cys) c.683T>G (p.Phe228Cys) n.794T>G | gnomAD v4 |
| 12 | g.102855144A>G | CA386296551 | PAH | c.698T>C (p.Phe233Ser) c.683T>C (p.Phe228Ser) n.794T>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102855144A>T | CA386296550 | PAH | c.698T>A (p.Phe233Tyr) c.683T>A (p.Phe228Tyr) n.794T>A | |
| 12 | g.102855145A= | CA2059449057 | PAH | c.697T= (p.Phe233=) c.682T= (p.Phe228=) n.793T= | |
| 12 | g.102855145A>C | CA386296553 | PAH | c.697T>G (p.Phe233Val) c.682T>G (p.Phe228Val) n.793T>G | |
| 12 | g.102855145A>G | CA386296554 | PAH | c.697T>C (p.Phe233Leu) c.682T>C (p.Phe228Leu) n.793T>C | gnomAD v4 |
| 12 | g.102855145A>T | CA16020843 | PAH | c.697T>A (p.Phe233Ile) c.682T>A (p.Phe228Ile) n.793T>A | ClinVar dbSNP |
| 12 | g.102855146C>A | CA386296555 | PAH | c.696G>T (p.Gln232His) c.681G>T (p.Gln227His) n.792G>T | |
| 12 | g.102855146C= | CA229698 | PAH | c.696G= (p.Gln232=) c.681G= (p.Gln227=) n.792G= | |
| 12 | g.102855146C>G | CA6748880 | PAH | c.696G>C (p.Gln232His) c.681G>C (p.Gln227His) n.792G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |