Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.102855186A= | CA2059449262 | PAH | c.656T= (p.Phe219=) c.641T= (p.Phe214=) n.752T= | |
12 | g.102855186A>C | CA386296622 | PAH | c.656T>G (p.Phe219Cys) c.641T>G (p.Phe214Cys) n.752T>G | |
12 | g.102855186A>G | CA16020831 | PAH | c.656T>C (p.Phe219Ser) c.641T>C (p.Phe214Ser) n.752T>C | ClinVar dbSNP |
12 | g.102855186A>T | CA386296623 | PAH | c.656T>A (p.Phe219Tyr) c.641T>A (p.Phe214Tyr) n.752T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.102855187A>C | CA386296626 | PAH | c.655T>G (p.Phe219Val) c.640T>G (p.Phe214Val) n.751T>G | |
12 | g.102855187A>G | CA386296624 | PAH | c.655T>C (p.Phe219Leu) c.640T>C (p.Phe214Leu) n.751T>C | |
12 | g.102855187A>T | CA386296625 | PAH | c.655T>A (p.Phe219Ile) c.640T>A (p.Phe214Ile) n.751T>A | |
12 | g.102855188G>A | CA242473996 | PAH | c.654C>T (p.Gly218=) c.639C>T (p.Gly213=) n.750C>T | ClinVar dbSNP |
12 | g.102855188G>C | CA481578507 | PAH | c.654C>G (p.Gly218=) c.639C>G (p.Gly213=) n.750C>G | ClinVar dbSNP |
12 | g.102855188G= | CA2059449271 | PAH | c.654C= (p.Gly218=) c.639C= (p.Gly213=) n.750C= | |
12 | g.102855188G>T | CA481578506 | PAH | c.654C>A (p.Gly218=) c.639C>A (p.Gly213=) n.750C>A | |
12 | g.102855189C>A | CA229676 | PAH | c.653G>T (p.Gly218Val) c.638G>T (p.Gly213Val) n.749G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102855189C= | CA2059449280 | PAH | c.653G= (p.Gly218=) c.638G= (p.Gly213=) n.749G= | |
12 | g.102855189C>G | CA386296627 | PAH | c.653G>C (p.Gly218Ala) c.638G>C (p.Gly213Ala) n.749G>C | |
12 | g.102855189C>T | CA386296628 | PAH | c.653G>A (p.Gly218Asp) c.638G>A (p.Gly213Asp) n.749G>A | |
12 | g.102855190del | CA16020830 | PAH | c.653del (p.Gly218AlafsTer?) c.638del (p.Gly213AlafsTer?) n.749del | |
12 | g.102855190C>A | CA386296629 | PAH | c.652G>T (p.Gly218Cys) c.637G>T (p.Gly213Cys) n.748G>T | |
12 | g.102855190C>G | CA386296630 | PAH | c.652G>C (p.Gly218Arg) c.637G>C (p.Gly213Arg) n.748G>C | |
12 | g.102855190C>T | CA386296631 | PAH | c.652G>A (p.Gly218Ser) c.637G>A (p.Gly213Ser) n.748G>A | |
12 | g.102855191A>C | CA386296632 | PAH | c.651T>G (p.Cys217Trp) c.636T>G (p.Cys212Trp) n.747T>G | |
12 | g.102855191A>G | CA481578511 | PAH | c.651T>C (p.Cys217=) c.636T>C (p.Cys212=) n.747T>C | ClinVar dbSNP |
12 | g.102855191A>T | CA386296633 | PAH | c.651T>A (p.Cys217Ter) c.636T>A (p.Cys212Ter) n.747T>A | |
12 | g.102855192C>A | CA386296634 | PAH | c.650G>T (p.Cys217Phe) c.635G>T (p.Cys212Phe) n.746G>T | ClinVar |
12 | g.102855192C= | CA2059449293 | PAH | c.650G= (p.Cys217=) c.635G= (p.Cys212=) n.746G= | |
12 | g.102855192C>G | CA386296635 | PAH | c.650G>C (p.Cys217Ser) c.635G>C (p.Cys212Ser) n.746G>C | |
12 | g.102855192C>T | CA229674 | PAH | c.650G>A (p.Cys217Tyr) c.635G>A (p.Cys212Tyr) n.746G>A | ClinVar dbSNP |
12 | g.102855193A= | CA2059449306 | PAH | c.649T= (p.Cys217=) c.634T= (p.Cys212=) n.745T= | |
12 | g.102855193A>C | CA229673 | PAH | c.649T>G (p.Cys217Gly) c.634T>G (p.Cys212Gly) n.745T>G | ClinVar dbSNP |
12 | g.102855193A>G | CA229671 | PAH | c.649T>C (p.Cys217Arg) c.634T>C (p.Cys212Arg) n.745T>C | ClinVar dbSNP gnomAD v4 |
12 | g.102855193A>T | CA386296636 | PAH | c.649T>A (p.Cys217Ser) c.634T>A (p.Cys212Ser) n.745T>A | |
12 | g.102855194G>A | CA481578515 | PAH | c.648C>T (p.Tyr216=) c.633C>T (p.Tyr211=) n.744C>T | |
12 | g.102855194G>C | CA229669 | PAH | c.648C>G (p.Tyr216Ter) c.633C>G (p.Tyr211Ter) n.744C>G | ClinVar dbSNP gnomAD v4 |
12 | g.102855194G= | CA2059449318 | PAH | c.648C= (p.Tyr216=) c.633C= (p.Tyr211=) n.744C= | |
12 | g.102855194G>T | CA386296637 | PAH | c.648C>A (p.Tyr216Ter) c.633C>A (p.Tyr211Ter) n.744C>A | |
12 | g.102855195T>A | CA386296638 | PAH | c.647A>T (p.Tyr216Phe) c.632A>T (p.Tyr211Phe) n.743A>T | |
12 | g.102855195T>C | CA386296639 | PAH | c.647A>G (p.Tyr216Cys) c.632A>G (p.Tyr211Cys) n.743A>G | |
12 | g.102855195T>G | CA386296640 | PAH | c.647A>C (p.Tyr216Ser) c.632A>C (p.Tyr211Ser) n.743A>C | |
12 | g.102855196A>C | CA386296641 | PAH | c.646T>G (p.Tyr216Asp) c.631T>G (p.Tyr211Asp) n.742T>G | |
12 | g.102855196A>G | CA386296642 | PAH | c.646T>C (p.Tyr216His) c.631T>C (p.Tyr211His) n.742T>C | |
12 | g.102855196A>T | CA386296643 | PAH | c.646T>A (p.Tyr216Asn) c.631T>A (p.Tyr211Asn) n.742T>A | |
12 | g.102855197C>A | CA386296644 | PAH | c.645G>T (p.Lys215Asn) c.630G>T (p.Lys210Asn) n.741G>T | |
12 | g.102855197C= | CA2059449324 | PAH | c.645G= (p.Lys215=) c.630G= (p.Lys210=) n.741G= | |
12 | g.102855197C>G | CA386296645 | PAH | c.645G>C (p.Lys215Asn) c.630G>C (p.Lys210Asn) n.741G>C | |
12 | g.102855197C>T | CA481578519 | PAH | c.645G>A (p.Lys215=) c.630G>A (p.Lys210=) n.741G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.102855198T>A | CA386296646 | PAH | c.644A>T (p.Lys215Met) c.629A>T (p.Lys210Met) n.740A>T | COSMIC |
12 | g.102855198T>C | CA386296647 | PAH | c.644A>G (p.Lys215Arg) c.629A>G (p.Lys210Arg) n.740A>G | |
12 | g.102855198T>G | CA386296648 | PAH | c.644A>C (p.Lys215Thr) c.629A>C (p.Lys210Thr) n.740A>C | |
12 | g.102855199T>A | CA386296650 | PAH | c.643A>T (p.Lys215Ter) c.628A>T (p.Lys210Ter) n.739A>T | |
12 | g.102855199T>C | CA386296651 | PAH | c.643A>G (p.Lys215Glu) c.628A>G (p.Lys210Glu) n.739A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102855199T>G | CA386296649 | PAH | c.643A>C (p.Lys215Gln) c.628A>C (p.Lys210Gln) n.739A>C |