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.102851701_102851704delinsCAAA | CA2059444411 | PAH | c.895_898delinsTTTG (p.Phe299=) c.880_883delinsTTTG (p.Phe294=) n.654_657delinsTTTG n.557_560delinsTTTG c.56_59delinsTTTG | |
12 | g.102851702_102851704del | CA229837 | PAH | c.895_897del (p.Phe299del) c.880_882del (p.Phe294del) n.654_656del n.557_559del c.56_58del | ClinVar dbSNP |
12 | g.102851703A= | CA2059444435 | PAH | c.896T= (p.Phe299=) c.881T= (p.Phe294=) n.655T= n.558T= c.57T= | |
12 | g.102851703A>C | CA251541 | PAH | c.896T>G (p.Phe299Cys) c.881T>G (p.Phe294Cys) n.655T>G n.558T>G c.57T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102851703A>G | CA16020887 | PAH | c.896T>C (p.Phe299Ser) c.881T>C (p.Phe294Ser) n.655T>C n.558T>C c.57T>C | ClinVar dbSNP |
12 | g.102851703A>T | CA386294258 | PAH | c.896T>A (p.Phe299Tyr) c.881T>A (p.Phe294Tyr) n.655T>A n.558T>A c.57T>A | COSMIC |
12 | g.102851704A= | CA2059444443 | PAH | c.895T= (p.Phe299=) c.880T= (p.Phe294=) n.654T= n.557T= c.56T= | |
12 | g.102851704A>C | CA386294263 | PAH | c.895T>G (p.Phe299Val) c.880T>G (p.Phe294Val) n.654T>G n.557T>G c.56T>G | |
12 | g.102851704A>G | CA275941 | PAH | c.895T>C (p.Phe299Leu) c.880T>C (p.Phe294Leu) n.654T>C n.557T>C c.56T>C | ClinVar dbSNP |
12 | g.102851704A>T | CA386294267 | PAH | c.895T>A (p.Phe299Ile) c.880T>A (p.Phe294Ile) n.654T>A n.557T>A c.56T>A | |
12 | g.102851705G>A | CA6748810 | PAH | c.894C>T (p.Ser298=) c.879C>T (p.Ser293=) n.653C>T n.556C>T c.55C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.102851705G>C | CA386294272 | PAH | c.894C>G (p.Ser298Arg) c.879C>G (p.Ser293Arg) n.653C>G n.556C>G c.55C>G | |
12 | g.102851705G= | CA2059444454 | PAH | c.894C= (p.Ser298=) c.879C= (p.Ser293=) n.653C= n.556C= c.55C= | |
12 | g.102851705G>T | CA386294277 | PAH | c.894C>A (p.Ser298Arg) c.879C>A (p.Ser293Arg) n.653C>A n.556C>A c.55C>A | |
12 | g.102851706C>A | CA386294284 | PAH | c.893G>T (p.Ser298Ile) c.878G>T (p.Ser293Ile) n.652G>T n.555G>T c.54G>T | |
12 | g.102851706C= | CA2059444460 | PAH | c.893G= (p.Ser298=) c.878G= (p.Ser293=) n.652G= n.555G= c.54G= | |
12 | g.102851706C>G | CA386294288 | PAH | c.893G>C (p.Ser298Thr) c.878G>C (p.Ser293Thr) n.652G>C n.555G>C c.54G>C | |
12 | g.102851706C>T | CA386294291 | PAH | c.893G>A (p.Ser298Asn) c.878G>A (p.Ser293Asn) n.652G>A n.555G>A c.54G>A | dbSNP |
12 | g.102851707T>A | CA386294300 | PAH | c.892A>T (p.Ser298Cys) c.877A>T (p.Ser293Cys) n.651A>T n.554A>T c.53A>T | |
12 | g.102851707T>C | CA386294304 | PAH | c.892A>G (p.Ser298Gly) c.877A>G (p.Ser293Gly) n.651A>G n.554A>G c.53A>G | |
12 | g.102851707T>G | CA386294307 | PAH | c.892A>C (p.Ser298Arg) c.877A>C (p.Ser293Arg) n.651A>C n.554A>C c.53A>C | |
12 | g.102851708G>A | CA481331295 | PAH | c.891C>T (p.Arg297=) c.876C>T (p.Arg292=) n.650C>T n.553C>T c.52C>T | |
12 | g.102851708G>C | CA481331294 | PAH | c.891C>G (p.Arg297=) c.876C>G (p.Arg292=) n.650C>G n.553C>G c.52C>G | |
12 | g.102851708G>T | CA481331293 | PAH | c.891C>A (p.Arg297=) c.876C>A (p.Arg292=) n.650C>A n.553C>A c.52C>A | |
12 | g.102851709C>A | CA16020886 | PAH | c.890G>T (p.Arg297Leu) c.875G>T (p.Arg292Leu) n.649G>T n.552G>T c.51G>T | ClinVar dbSNP gnomAD v4 |
12 | g.102851709C= | CA2059444466 | PAH | c.890G= (p.Arg297=) c.875G= (p.Arg292=) n.649G= n.552G= c.51G= | |
12 | g.102851709C>G | CA386294316 | PAH | c.890G>C (p.Arg297Pro) c.875G>C (p.Arg292Pro) n.649G>C n.552G>C c.51G>C | |
12 | g.102851709C>T | CA220590 | PAH | c.890G>A (p.Arg297His) c.875G>A (p.Arg292His) n.649G>A n.552G>A c.51G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102851710G>A | CA229836 | PAH | c.889C>T (p.Arg297Cys) c.874C>T (p.Arg292Cys) n.648C>T n.551C>T c.50C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.102851710G>C | CA386294323 | PAH | c.889C>G (p.Arg297Gly) c.874C>G (p.Arg292Gly) n.648C>G n.551C>G c.50C>G | gnomAD v4 |
12 | g.102851710G= | CA2059444486 | PAH | c.889C= (p.Arg297=) c.874C= (p.Arg292=) n.648C= n.551C= c.50C= | |
12 | g.102851710G>T | CA386294324 | PAH | c.889C>A (p.Arg297Ser) c.874C>A (p.Arg292Ser) n.648C>A n.551C>A c.50C>A | |
12 | g.102851710_102851726delinsGATCTGAAAACAAGGGC | CA2059444484 | PAH | c.873_889delinsGCCCTTGTTTTCAGATC (p.Val291=) c.858_874delinsGCCCTTGTTTTCAGATC (p.Val286=) n.632_648delinsGCCCTTGTTTTCAGATC n.535_551delinsGCCCTTGTTTTCAGATC c.34_50delinsGCCCTTGTTTTCAGATC | |
12 | g.102851711A>C | CA386294327 | PAH | c.888T>G (p.Asp296Glu) c.873T>G (p.Asp291Glu) n.647T>G n.550T>G c.49T>G | |
12 | g.102851711A>G | CA481331296 | PAH | c.888T>C (p.Asp296=) c.873T>C (p.Asp291=) n.647T>C n.550T>C c.49T>C | ClinVar |
12 | g.102851711A>T | CA386294330 | PAH | c.888T>A (p.Asp296Glu) c.873T>A (p.Asp291Glu) n.647T>A n.550T>A c.49T>A | |
12 | g.102851712_102851727del | CA682803735 | PAH | c.873_888del (p.Pro292AlafsTer?) c.858_873del (p.Pro287AlafsTer?) n.632_647del n.535_550del c.34_49del c.873_888del (p.Pro292AlafsTer25) | dbSNP |
12 | g.102851712T>A | CA386294332 | PAH | c.887A>T (p.Asp296Val) c.872A>T (p.Asp291Val) n.646A>T n.549A>T c.48A>T | |
12 | g.102851712T>C | CA267682 | PAH | c.887A>G (p.Asp296Gly) c.872A>G (p.Asp291Gly) n.646A>G n.549A>G c.48A>G | ClinVar dbSNP gnomAD v4 |
12 | g.102851712T>G | CA386294333 | PAH | c.887A>C (p.Asp296Ala) c.872A>C (p.Asp291Ala) n.646A>C n.549A>C c.48A>C | |
12 | g.102851712T= | CA2059444493 | PAH | c.887A= (p.Asp296=) c.872A= (p.Asp291=) n.646A= n.549A= c.48A= | |
12 | g.102851713C>A | CA386294336 | PAH | c.886G>T (p.Asp296Tyr) c.871G>T (p.Asp291Tyr) n.645G>T n.548G>T c.47G>T | |
12 | g.102851713C= | CA2059444502 | PAH | c.886G= (p.Asp296=) c.871G= (p.Asp291=) n.645G= n.548G= c.47G= | |
12 | g.102851713C>G | CA16020885 | PAH | c.886G>C (p.Asp296His) c.871G>C (p.Asp291His) n.645G>C n.548G>C c.47G>C | ClinVar dbSNP |
12 | g.102851713C>T | CA6748811 | PAH | c.886G>A (p.Asp296Asn) c.871G>A (p.Asp291Asn) n.645G>A n.548G>A c.47G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102851714T>A | CA481331297 | PAH | c.885A>T (p.Ser295=) c.870A>T (p.Ser290=) n.644A>T n.547A>T c.46A>T | |
12 | g.102851714T>C | CA481331299 | PAH | c.885A>G (p.Ser295=) c.870A>G (p.Ser290=) n.644A>G n.547A>G c.46A>G | |
12 | g.102851714T>G | CA481331298 | PAH | c.885A>C (p.Ser295=) c.870A>C (p.Ser290=) n.644A>C n.547A>C c.46A>C | |
12 | g.102851715G>A | CA386294338 | PAH | c.884C>T (p.Ser295Leu) c.869C>T (p.Ser290Leu) n.643C>T n.546C>T c.45C>T |