Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.102840367A>C | CA2601918610 | PAH | c.1315+33T>G (n.1315+33T>G) c.1300+33T>G (n.1300+33T>G) n.977+33T>G c.419+33T>G n.830+33T>G c.1258+33T>G (n.1258+33T>G) | gnomAD v3 gnomAD v4 |
12 | g.102840369C= | CA2059441313 | PAH | c.1315+31G= (n.1315+31G=) c.1300+31G= (n.1300+31G=) n.977+31G= c.419+31G= n.830+31G= c.1258+31G= (n.1258+31G=) | |
12 | g.102840369C>G | CA6748694 | PAH | c.1315+31G>C (n.1315+31G>C) c.1300+31G>C (n.1300+31G>C) n.977+31G>C c.419+31G>C n.830+31G>C c.1258+31G>C (n.1258+31G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.102840369C>T | CA6748693 | PAH | c.1315+31G>A (n.1315+31G>A) c.1300+31G>A (n.1300+31G>A) n.977+31G>A c.419+31G>A n.830+31G>A c.1258+31G>A (n.1258+31G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840370G>A | CA6748695 | PAH | c.1315+30C>T (n.1315+30C>T) c.1300+30C>T (n.1300+30C>T) n.977+30C>T c.419+30C>T n.830+30C>T c.1258+30C>T (n.1258+30C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840370G= | CA2059441321 | PAH | c.1315+30C= (n.1315+30C=) c.1300+30C= (n.1300+30C=) n.977+30C= c.419+30C= n.830+30C= c.1258+30C= (n.1258+30C=) | |
12 | g.102840370G>T | CA6748696 | PAH | c.1315+30C>A (n.1315+30C>A) c.1300+30C>A (n.1300+30C>A) n.977+30C>A c.419+30C>A n.830+30C>A c.1258+30C>A (n.1258+30C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.102840371A= | CA2059441323 | PAH | c.1315+29T= (n.1315+29T=) c.1300+29T= (n.1300+29T=) n.977+29T= c.419+29T= n.830+29T= c.1258+29T= (n.1258+29T=) | |
12 | g.102840371A>C | CA6748697 | PAH | c.1315+29T>G (n.1315+29T>G) c.1300+29T>G (n.1300+29T>G) n.977+29T>G c.419+29T>G n.830+29T>G c.1258+29T>G (n.1258+29T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840371A>T | CA2620526747 | PAH | c.1315+29T>A (n.1315+29T>A) c.1300+29T>A (n.1300+29T>A) n.977+29T>A c.419+29T>A n.830+29T>A c.1258+29T>A (n.1258+29T>A) | gnomAD v4 |
12 | g.102840372G>C | CA607427178 | PAH | c.1315+28C>G (n.1315+28C>G) c.1300+28C>G (n.1300+28C>G) n.977+28C>G c.419+28C>G n.830+28C>G c.1258+28C>G (n.1258+28C>G) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.102840372G= | CA2059441327 | PAH | c.1315+28C= (n.1315+28C=) c.1300+28C= (n.1300+28C=) n.977+28C= c.419+28C= n.830+28C= c.1258+28C= (n.1258+28C=) | |
12 | g.102840374G>A | CA2059441331 | PAH | c.1315+26C>T (n.1315+26C>T) c.1300+26C>T (n.1300+26C>T) n.977+26C>T c.419+26C>T n.830+26C>T c.1258+26C>T (n.1258+26C>T) | dbSNP |
12 | g.102840374G>C | CA2059441333 | PAH | c.1315+26C>G (n.1315+26C>G) c.1300+26C>G (n.1300+26C>G) n.977+26C>G c.419+26C>G n.830+26C>G c.1258+26C>G (n.1258+26C>G) | dbSNP |
12 | g.102840374G= | CA2059441330 | PAH | c.1315+26C= (n.1315+26C=) c.1300+26C= (n.1300+26C=) n.977+26C= c.419+26C= n.830+26C= c.1258+26C= (n.1258+26C=) | |
12 | g.102840374G>T | CA2620526754 | PAH | c.1315+26C>A (n.1315+26C>A) c.1300+26C>A (n.1300+26C>A) n.977+26C>A c.419+26C>A n.830+26C>A c.1258+26C>A (n.1258+26C>A) | gnomAD v4 |
12 | g.102840375G>A | CA2620526755 | PAH | c.1315+25C>T (n.1315+25C>T) c.1300+25C>T (n.1300+25C>T) n.977+25C>T c.419+25C>T n.830+25C>T c.1258+25C>T (n.1258+25C>T) | gnomAD v4 |
12 | g.102840375G>T | CA655173670 | PAH | c.1315+25C>A (n.1315+25C>A) c.1300+25C>A (n.1300+25C>A) n.977+25C>A c.419+25C>A n.830+25C>A c.1258+25C>A (n.1258+25C>A) | gnomAD v4 COSMIC |
12 | g.102840376C>A | CA2620526756 | PAH | c.1315+24G>T (n.1315+24G>T) c.1300+24G>T (n.1300+24G>T) n.977+24G>T c.419+24G>T n.830+24G>T c.1258+24G>T (n.1258+24G>T) | gnomAD v4 |
12 | g.102840378_102840379delinsTC | CA2059441336 | PAH | c.1315+21_1315+22delinsGA (n.1315+21_1315+22delinsGA) c.1300+21_1300+22delinsGA (n.1300+21_1300+22delinsGA) n.977+21_977+22delinsGA c.419+21_419+22delinsGA n.830+21_830+22delinsGA c.1258+21_1258+22delinsGA (n.1258+21_1258+22delinsGA) | |
12 | g.102840379del | CA607427179 | PAH | c.1315+21del (n.1315+21del) c.1300+21del (n.1300+21del) n.977+21del c.419+21del n.830+21del c.1258+21del (n.1258+21del) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.102840379C= | CA2059441344 | PAH | c.1315+21G= (n.1315+21G=) c.1300+21G= (n.1300+21G=) n.977+21G= c.419+21G= n.830+21G= c.1258+21G= (n.1258+21G=) | |
12 | g.102840379C>G | CA2620526757 | PAH | c.1315+21G>C (n.1315+21G>C) c.1300+21G>C (n.1300+21G>C) n.977+21G>C c.419+21G>C n.830+21G>C c.1258+21G>C (n.1258+21G>C) | gnomAD v4 |
12 | g.102840379C>T | CA242743396 | PAH | c.1315+21G>A (n.1315+21G>A) c.1300+21G>A (n.1300+21G>A) n.977+21G>A c.419+21G>A n.830+21G>A c.1258+21G>A (n.1258+21G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840380G>A | CA6748698 | PAH | c.1315+20C>T (n.1315+20C>T) c.1300+20C>T (n.1300+20C>T) n.977+20C>T c.419+20C>T n.830+20C>T c.1258+20C>T (n.1258+20C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840380G= | CA2059441346 | PAH | c.1315+20C= (n.1315+20C=) c.1300+20C= (n.1300+20C=) n.977+20C= c.419+20C= n.830+20C= c.1258+20C= (n.1258+20C=) | |
12 | g.102840380G>T | CA2575266710 | PAH | c.1315+20C>A (n.1315+20C>A) c.1300+20C>A (n.1300+20C>A) n.977+20C>A c.419+20C>A n.830+20C>A c.1258+20C>A (n.1258+20C>A) | gnomAD v4 |
12 | g.102840381T>G | CA2620526758 | PAH | c.1315+19A>C (n.1315+19A>C) c.1300+19A>C (n.1300+19A>C) n.977+19A>C c.419+19A>C n.830+19A>C c.1258+19A>C (n.1258+19A>C) | gnomAD v4 |
12 | g.102840383A= | CA2059441349 | PAH | c.1315+17T= (n.1315+17T=) c.1300+17T= (n.1300+17T=) n.977+17T= c.419+17T= n.830+17T= c.1258+17T= (n.1258+17T=) | |
12 | g.102840383A>C | CA655173671 | PAH | c.1315+17T>G (n.1315+17T>G) c.1300+17T>G (n.1300+17T>G) n.977+17T>G c.419+17T>G n.830+17T>G c.1258+17T>G (n.1258+17T>G) | COSMIC |
12 | g.102840383A>G | CA2059441351 | PAH | c.1315+17T>C (n.1315+17T>C) c.1300+17T>C (n.1300+17T>C) n.977+17T>C c.419+17T>C n.830+17T>C c.1258+17T>C (n.1258+17T>C) | ClinVar dbSNP gnomAD v4 |
12 | g.102840384G>A | CA2620526759 | PAH | c.1315+16C>T (n.1315+16C>T) c.1300+16C>T (n.1300+16C>T) n.977+16C>T c.419+16C>T n.830+16C>T c.1258+16C>T (n.1258+16C>T) | gnomAD v4 |
12 | g.102840384G= | CA2059441353 | PAH | c.1315+16C= (n.1315+16C=) c.1300+16C= (n.1300+16C=) n.977+16C= c.419+16C= n.830+16C= c.1258+16C= (n.1258+16C=) | |
12 | g.102840384G>T | CA242743399 | PAH | c.1315+16C>A (n.1315+16C>A) c.1300+16C>A (n.1300+16C>A) n.977+16C>A c.419+16C>A n.830+16C>A c.1258+16C>A (n.1258+16C>A) | ClinVar dbSNP gnomAD v4 |
12 | g.102840385G>A | CA2620526760 | PAH | c.1315+15C>T (n.1315+15C>T) c.1300+15C>T (n.1300+15C>T) n.977+15C>T c.419+15C>T n.830+15C>T c.1258+15C>T (n.1258+15C>T) | gnomAD v4 |
12 | g.102840385G>T | CA2620526761 | PAH | c.1315+15C>A (n.1315+15C>A) c.1300+15C>A (n.1300+15C>A) n.977+15C>A c.419+15C>A n.830+15C>A c.1258+15C>A (n.1258+15C>A) | gnomAD v4 |
12 | g.102840386del | CA2739277282 | PAH | c.1315+14del (n.1315+14del) c.1300+14del (n.1300+14del) n.977+14del c.419+14del n.830+14del c.1258+14del (n.1258+14del) | ClinVar |
12 | g.102840386T>C | CA2797242662 | PAH | c.1315+14A>G (n.1315+14A>G) c.1300+14A>G (n.1300+14A>G) n.977+14A>G c.419+14A>G n.830+14A>G c.1258+14A>G (n.1258+14A>G) | |
12 | g.102840387G>A | CA2620526762 | PAH | c.1315+13C>T (n.1315+13C>T) c.1300+13C>T (n.1300+13C>T) n.977+13C>T c.419+13C>T n.830+13C>T c.1258+13C>T (n.1258+13C>T) | ClinVar gnomAD v4 |
12 | g.102840387G>T | CA2575266711 | PAH | c.1315+13C>A (n.1315+13C>A) c.1300+13C>A (n.1300+13C>A) n.977+13C>A c.419+13C>A n.830+13C>A c.1258+13C>A (n.1258+13C>A) | gnomAD v4 |
12 | g.102840389_102840391del | CA2575266712 | PAH | c.1315+9_1315+11del (n.1315+9_1315+11del) c.1300+9_1300+11del (n.1300+9_1300+11del) n.977+9_977+11del c.419+9_419+11del n.830+9_830+11del c.1258+9_1258+11del (n.1258+9_1258+11del) | |
12 | g.102840391del | CA2620526763 | PAH | c.1315+11del (n.1315+11del) c.1300+11del (n.1300+11del) n.977+11del c.419+11del n.830+11del c.1258+11del (n.1258+11del) | gnomAD v4 |
12 | g.102840390A>C | CA2697551024 | PAH | c.1315+10T>G (n.1315+10T>G) c.1300+10T>G (n.1300+10T>G) n.977+10T>G c.419+10T>G n.830+10T>G c.1258+10T>G (n.1258+10T>G) | ClinVar |
12 | g.102840391A= | CA2059441357 | PAH | c.1315+9T= (n.1315+9T=) c.1300+9T= (n.1300+9T=) n.977+9T= c.419+9T= n.830+9T= c.1258+9T= (n.1258+9T=) | |
12 | g.102840391A>G | CA242743402 | PAH | c.1315+9T>C (n.1315+9T>C) c.1300+9T>C (n.1300+9T>C) n.977+9T>C c.419+9T>C n.830+9T>C c.1258+9T>C (n.1258+9T>C) | ClinVar dbSNP |
12 | g.102840393T>G | CA2697551025 | PAH | c.1315+7A>C (n.1315+7A>C) c.1300+7A>C (n.1300+7A>C) n.977+7A>C c.419+7A>C n.830+7A>C c.1258+7A>C (n.1258+7A>C) | ClinVar |
12 | g.102840394A= | CA2059441371 | PAH | c.1315+6T= (n.1315+6T=) c.1300+6T= (n.1300+6T=) n.977+6T= c.419+6T= n.830+6T= c.1258+6T= (n.1258+6T=) | |
12 | g.102840394A>G | CA2620526764 | PAH | c.1315+6T>C (n.1315+6T>C) c.1300+6T>C (n.1300+6T>C) n.977+6T>C c.419+6T>C n.830+6T>C c.1258+6T>C (n.1258+6T>C) | gnomAD v4 |
12 | g.102840394A>T | CA229431 | PAH | c.1315+6T>A (n.1315+6T>A) c.1300+6T>A (n.1300+6T>A) n.977+6T>A c.419+6T>A n.830+6T>A c.1258+6T>A (n.1258+6T>A) | ClinVar dbSNP |
12 | g.102840395C>A | CA2695217218 | PAH | c.1315+5G>T (n.1315+5G>T) c.1300+5G>T (n.1300+5G>T) n.977+5G>T c.419+5G>T n.830+5G>T c.1258+5G>T (n.1258+5G>T) | |
12 | g.102840395C= | CA2059441381 | PAH | c.1315+5G= (n.1315+5G=) c.1300+5G= (n.1300+5G=) n.977+5G= c.419+5G= n.830+5G= c.1258+5G= (n.1258+5G=) | |
12 | g.102840395C>G | CA16020995 | PAH | c.1315+5G>C (n.1315+5G>C) c.1300+5G>C (n.1300+5G>C) n.977+5G>C c.419+5G>C n.830+5G>C c.1258+5G>C (n.1258+5G>C) | ClinVar dbSNP |
12 | g.102840395C>T | CA2837995338 | PAH | c.1315+5G>A (n.1315+5G>A) c.1300+5G>A (n.1300+5G>A) n.977+5G>A c.419+5G>A n.830+5G>A c.1258+5G>A (n.1258+5G>A) | |
12 | g.102840396_102840397insGTTACACCT | CA2695217217 | PAH | c.1315+5_1315+6insGTGTAACAG (n.1315+5_1315+6insGTGTAACAG) c.1300+5_1300+6insGTGTAACAG (n.1300+5_1300+6insGTGTAACAG) n.977+5_977+6insGTGTAACAG c.419+5_419+6insGTGTAACAG n.830+5_830+6insGTGTAACAG c.1258+5_1258+6insGTGTAACAG (n.1258+5_1258+6insGTGTAACAG) | |
12 | g.102840395_102840401del | CA912973337 | PAH | c.1314_1315+5del c.1299_1300+5del n.976_977+5del c.418_419+5del n.829_830+5del c.1257_1258+5del | |
12 | g.102840395_102840401delinsCTTACTG | CA2059441378 | PAH | c.1314_1315+5delinsCAGTAAG c.1299_1300+5delinsCAGTAAG n.976_977+5delinsCAGTAAG c.418_419+5delinsCAGTAAG n.829_830+5delinsCAGTAAG c.1257_1258+5delinsCAGTAAG | |
12 | g.102840396T>C | CA229430 | PAH | c.1315+4A>G (n.1315+4A>G) c.1300+4A>G (n.1300+4A>G) n.977+4A>G c.419+4A>G n.830+4A>G c.1258+4A>G (n.1258+4A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.102840396T= | CA2059441402 | PAH | c.1315+4A= (n.1315+4A=) c.1300+4A= (n.1300+4A=) n.977+4A= c.419+4A= n.830+4A= c.1258+4A= (n.1258+4A=) | |
12 | g.102840399_102840404del | CA16020994 | PAH | c.1314_1315+4del c.1299_1300+4del n.976_977+4del c.418_419+4del n.829_830+4del c.1257_1258+4del | ClinVar dbSNP |
12 | g.102840397T>C | CA607427186 | PAH | c.1315+3A>G (n.1315+3A>G) c.1300+3A>G (n.1300+3A>G) n.977+3A>G c.419+3A>G n.830+3A>G c.1258+3A>G (n.1258+3A>G) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.102840397T= | CA2059441412 | PAH | c.1315+3A= (n.1315+3A=) c.1300+3A= (n.1300+3A=) n.977+3A= c.419+3A= n.830+3A= c.1258+3A= (n.1258+3A=) | |
12 | g.102840398A= | CA2059441420 | PAH | c.1315+2T= (n.1315+2T=) c.1300+2T= (n.1300+2T=) n.977+2T= c.419+2T= n.830+2T= c.1258+2T= (n.1258+2T=) | |
12 | g.102840398A>C | CA386492909 | PAH | c.1315+2T>G (n.1315+2T>G) c.1300+2T>G (n.1300+2T>G) n.977+2T>G c.419+2T>G n.830+2T>G c.1258+2T>G (n.1258+2T>G) | |
12 | g.102840398A>G | CA229429 | PAH | c.1315+2T>C (n.1315+2T>C) c.1300+2T>C (n.1300+2T>C) n.977+2T>C c.419+2T>C n.830+2T>C c.1258+2T>C (n.1258+2T>C) | ClinVar dbSNP gnomAD v4 |
12 | g.102840398A>T | CA386492910 | PAH | c.1315+2T>A (n.1315+2T>A) c.1300+2T>A (n.1300+2T>A) n.977+2T>A c.419+2T>A n.830+2T>A c.1258+2T>A (n.1258+2T>A) | gnomAD v4 |
12 | g.102840399C>A | CA16020993 | PAH | c.1315+1G>T (n.1315+1G>T) c.1300+1G>T (n.1300+1G>T) n.977+1G>T c.419+1G>T n.830+1G>T c.1258+1G>T (n.1258+1G>T) | ClinVar dbSNP |
12 | g.102840399C= | CA2059441438 | PAH | c.1315+1G= (n.1315+1G=) c.1300+1G= (n.1300+1G=) n.977+1G= c.419+1G= n.830+1G= c.1258+1G= (n.1258+1G=) | |
12 | g.102840399C>G | CA386492911 | PAH | c.1315+1G>C (n.1315+1G>C) c.1300+1G>C (n.1300+1G>C) n.977+1G>C c.419+1G>C n.830+1G>C c.1258+1G>C (n.1258+1G>C) | |
12 | g.102840399C>T | CA251522 | PAH | c.1315+1G>A (n.1315+1G>A) c.1300+1G>A (n.1300+1G>A) n.977+1G>A c.419+1G>A n.830+1G>A c.1258+1G>A (n.1258+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840400T>A | CA386492912 | PAH | c.1315A>T (p.Ser439Cys) c.1300A>T (p.Ser434Cys) n.977A>T c.419A>T n.830A>T c.1258A>T (p.Ser420Cys) | |
12 | g.102840400T>C | CA242743409 | PAH | c.1315A>G (p.Ser439Gly) c.1300A>G (p.Ser434Gly) n.977A>G c.419A>G n.830A>G c.1258A>G (p.Ser420Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840400T>G | CA386492913 | PAH | c.1315A>C (p.Ser439Arg) c.1300A>C (p.Ser434Arg) n.977A>C c.419A>C n.830A>C c.1258A>C (p.Ser420Arg) | |
12 | g.102840400T= | CA2059441448 | PAH | c.1315A= (p.Ser439=) c.1300A= (p.Ser434=) n.977A= c.419A= n.830A= c.1258A= (p.Ser420=) | |
12 | g.102840401G>A | CA242743411 | PAH | c.1314C>T (p.Asn438=) c.1299C>T (p.Asn433=) n.976C>T c.418C>T n.829C>T c.1257C>T (p.Asn419=) | dbSNP |
12 | g.102840401G>C | CA386492914 | PAH | c.1314C>G (p.Asn438Lys) c.1299C>G (p.Asn433Lys) n.976C>G c.418C>G n.829C>G c.1257C>G (p.Asn419Lys) | |
12 | g.102840401G= | CA2059441455 | PAH | c.1314C= (p.Asn438=) c.1299C= (p.Asn433=) n.976C= c.418C= n.829C= c.1257C= (p.Asn419=) | |
12 | g.102840401G>T | CA386492915 | PAH | c.1314C>A (p.Asn438Lys) c.1299C>A (p.Asn433Lys) n.976C>A c.418C>A n.829C>A c.1257C>A (p.Asn419Lys) | |
12 | g.102840402T>A | CA386492916 | PAH | c.1313A>T (p.Asn438Ile) c.1298A>T (p.Asn433Ile) n.975A>T c.417A>T n.828A>T c.1256A>T (p.Asn419Ile) | |
12 | g.102840402T>C | CA386492917 | PAH | c.1313A>G (p.Asn438Ser) c.1298A>G (p.Asn433Ser) n.975A>G c.417A>G n.828A>G c.1256A>G (p.Asn419Ser) | gnomAD v4 |
12 | g.102840402T>G | CA386492918 | PAH | c.1313A>C (p.Asn438Thr) c.1298A>C (p.Asn433Thr) n.975A>C c.417A>C n.828A>C c.1256A>C (p.Asn419Thr) | |
12 | g.102840403T>A | CA386492919 | PAH | c.1312A>T (p.Asn438Tyr) c.1297A>T (p.Asn433Tyr) n.974A>T c.416A>T n.827A>T c.1255A>T (p.Asn419Tyr) | |
12 | g.102840403T>C | CA16020992 | PAH | c.1312A>G (p.Asn438Asp) c.1297A>G (p.Asn433Asp) n.974A>G c.416A>G n.827A>G c.1255A>G (p.Asn419Asp) | ClinVar dbSNP |
12 | g.102840403T>G | CA386492920 | PAH | c.1312A>C (p.Asn438His) c.1297A>C (p.Asn433His) n.974A>C c.416A>C n.827A>C c.1255A>C (p.Asn419His) | |
12 | g.102840403T= | CA2059441462 | PAH | c.1312A= (p.Asn438=) c.1297A= (p.Asn433=) n.974A= c.416A= n.827A= c.1255A= (p.Asn419=) | |
12 | g.102840404A>C | CA386492921 | PAH | c.1311T>G (p.Ile437Met) c.1296T>G (p.Ile432Met) n.973T>G c.415T>G n.826T>G c.1254T>G (p.Ile418Met) | |
12 | g.102840404A>G | CA481375324 | PAH | c.1311T>C (p.Ile437=) c.1296T>C (p.Ile432=) n.973T>C c.415T>C n.826T>C c.1254T>C (p.Ile418=) | gnomAD v4 |
12 | g.102840404A>T | CA481375323 | PAH | c.1311T>A (p.Ile437=) c.1296T>A (p.Ile432=) n.973T>A c.415T>A n.826T>A c.1254T>A (p.Ile418=) | gnomAD v4 |
12 | g.102840405A>C | CA386492922 | PAH | c.1310T>G (p.Ile437Ser) c.1295T>G (p.Ile432Ser) n.972T>G c.414T>G n.825T>G c.1253T>G (p.Ile418Ser) | |
12 | g.102840405A>G | CA386492923 | PAH | c.1310T>C (p.Ile437Thr) c.1295T>C (p.Ile432Thr) n.972T>C c.414T>C n.825T>C c.1253T>C (p.Ile418Thr) | |
12 | g.102840405A>T | CA386492924 | PAH | c.1310T>A (p.Ile437Asn) c.1295T>A (p.Ile432Asn) n.972T>A c.414T>A n.825T>A c.1253T>A (p.Ile418Asn) | |
12 | g.102840406T>A | CA386492925 | PAH | c.1309A>T (p.Ile437Phe) c.1294A>T (p.Ile432Phe) n.971A>T c.413A>T n.824A>T c.1252A>T (p.Ile418Phe) | |
12 | g.102840406T>C | CA386492927 | PAH | c.1309A>G (p.Ile437Val) c.1294A>G (p.Ile432Val) n.971A>G c.413A>G n.824A>G c.1252A>G (p.Ile418Val) | gnomAD v4 |
12 | g.102840406T>G | CA386492926 | PAH | c.1309A>C (p.Ile437Leu) c.1294A>C (p.Ile432Leu) n.971A>C c.413A>C n.824A>C c.1252A>C (p.Ile418Leu) | |
12 | g.102840407G>A | CA242743413 | PAH | c.1308C>T (p.Ser436=) c.1293C>T (p.Ser431=) n.970C>T c.412C>T n.823C>T c.1251C>T (p.Ser417=) | dbSNP COSMIC |
12 | g.102840407G>C | CA481375325 | PAH | c.1308C>G (p.Ser436=) c.1293C>G (p.Ser431=) n.970C>G c.412C>G n.823C>G c.1251C>G (p.Ser417=) | |
12 | g.102840407G= | CA2059441470 | PAH | c.1308C= (p.Ser436=) c.1293C= (p.Ser431=) n.970C= c.412C= n.823C= c.1251C= (p.Ser417=) | |
12 | g.102840407G>T | CA481375326 | PAH | c.1308C>A (p.Ser436=) c.1293C>A (p.Ser431=) n.970C>A c.412C>A n.823C>A c.1251C>A (p.Ser417=) | |
12 | g.102840408G>A | CA242743415 | PAH | c.1307C>T (p.Ser436Phe) c.1292C>T (p.Ser431Phe) n.969C>T c.411C>T n.822C>T c.1250C>T (p.Ser417Phe) | dbSNP |
12 | g.102840408G>C | CA386492928 | PAH | c.1307C>G (p.Ser436Cys) c.1292C>G (p.Ser431Cys) n.969C>G c.411C>G n.822C>G c.1250C>G (p.Ser417Cys) | |
12 | g.102840408G= | CA2059441480 | PAH | c.1307C= (p.Ser436=) c.1292C= (p.Ser431=) n.969C= c.411C= n.822C= c.1250C= (p.Ser417=) | |
12 | g.102840408G>T | CA386492929 | PAH | c.1307C>A (p.Ser436Tyr) c.1292C>A (p.Ser431Tyr) n.969C>A c.411C>A n.822C>A c.1250C>A (p.Ser417Tyr) | COSMIC |
12 | g.102840408_102840409delinsGA | CA2059441483 | PAH | c.1306_1307delinsTC (p.Ser436=) c.1291_1292delinsTC (p.Ser431=) n.968_969delinsTC c.410_411delinsTC n.821_822delinsTC c.1249_1250delinsTC (p.Ser417=) | |
12 | g.102840409A>C | CA386492930 | PAH | c.1306T>G (p.Ser436Ala) c.1291T>G (p.Ser431Ala) n.968T>G c.410T>G n.821T>G c.1249T>G (p.Ser417Ala) | |
12 | g.102840409A>G | CA386492931 | PAH | c.1306T>C (p.Ser436Pro) c.1291T>C (p.Ser431Pro) n.968T>C c.410T>C n.821T>C c.1249T>C (p.Ser417Pro) | |
12 | g.102840409A>T | CA386492932 | PAH | c.1306T>A (p.Ser436Thr) c.1291T>A (p.Ser431Thr) n.968T>A c.410T>A n.821T>A c.1249T>A (p.Ser417Thr) | |
12 | g.102840410del | CA16020991 | PAH | c.1306del (p.Ser436ProfsTer16) c.1291del (p.Ser431ProfsTer16) n.968del c.410del n.821del c.1249del (p.Ser417ProfsTer16) | ClinVar dbSNP |
12 | g.102840410A= | CA2059441506 | PAH | c.1305T= (p.Asp435=) c.1290T= (p.Asp430=) n.967T= c.409T= n.820T= c.1248T= (p.Asp416=) | |
12 | g.102840410A>C | CA386492933 | PAH | c.1305T>G (p.Asp435Glu) c.1290T>G (p.Asp430Glu) n.967T>G c.409T>G n.820T>G c.1248T>G (p.Asp416Glu) | dbSNP |
12 | g.102840410A>G | CA481375328 | PAH | c.1305T>C (p.Asp435=) c.1290T>C (p.Asp430=) n.967T>C c.409T>C n.820T>C c.1248T>C (p.Asp416=) | ClinVar |
12 | g.102840410A>T | CA6748699 | PAH | c.1305T>A (p.Asp435Glu) c.1290T>A (p.Asp430Glu) n.967T>A c.409T>A n.820T>A c.1248T>A (p.Asp416Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.102840411T>A | CA386492936 | PAH | c.1304A>T (p.Asp435Val) c.1289A>T (p.Asp430Val) n.966A>T c.408A>T n.819A>T c.1247A>T (p.Asp416Val) | ClinVar dbSNP gnomAD v4 |
12 | g.102840411T>C | CA386492935 | PAH | c.1304A>G (p.Asp435Gly) c.1289A>G (p.Asp430Gly) n.966A>G c.408A>G n.819A>G c.1247A>G (p.Asp416Gly) | |
12 | g.102840411T>G | CA386492934 | PAH | c.1304A>C (p.Asp435Ala) c.1289A>C (p.Asp430Ala) n.966A>C c.408A>C n.819A>C c.1247A>C (p.Asp416Ala) | |
12 | g.102840411T= | CA2059441507 | PAH | c.1304A= (p.Asp435=) c.1289A= (p.Asp430=) n.966A= c.408A= n.819A= c.1247A= (p.Asp416=) | |
12 | g.102840412C>A | CA386492937 | PAH | c.1303G>T (p.Asp435Tyr) c.1288G>T (p.Asp430Tyr) n.965G>T c.407G>T n.818G>T c.1246G>T (p.Asp416Tyr) | |
12 | g.102840412C>G | CA386492938 | PAH | c.1303G>C (p.Asp435His) c.1288G>C (p.Asp430His) n.965G>C c.407G>C n.818G>C c.1246G>C (p.Asp416His) | |
12 | g.102840412C>T | CA386492939 | PAH | c.1303G>A (p.Asp435Asn) c.1288G>A (p.Asp430Asn) n.965G>A c.407G>A n.818G>A c.1246G>A (p.Asp416Asn) | |
12 | g.102840413A= | CA2059441508 | PAH | c.1302T= (p.Ala434=) c.1287T= (p.Ala429=) n.964T= c.406T= n.817T= c.1245T= (p.Ala415=) | |
12 | g.102840413A>C | CA481375329 | PAH | c.1302T>G (p.Ala434=) c.1287T>G (p.Ala429=) n.964T>G c.406T>G n.817T>G c.1245T>G (p.Ala415=) | |
12 | g.102840413A>G | CA481375330 | PAH | c.1302T>C (p.Ala434=) c.1287T>C (p.Ala429=) n.964T>C c.406T>C n.817T>C c.1245T>C (p.Ala415=) | dbSNP gnomAD v4 |
12 | g.102840413A>T | CA481375331 | PAH | c.1302T>A (p.Ala434=) c.1287T>A (p.Ala429=) n.964T>A c.406T>A n.817T>A c.1245T>A (p.Ala415=) | |
12 | g.102840414G>A | CA16020990 | PAH | c.1301C>T (p.Ala434Val) c.1286C>T (p.Ala429Val) n.963C>T c.405C>T n.816C>T c.1244C>T (p.Ala415Val) | ClinVar dbSNP |
12 | g.102840414G>C | CA386492940 | PAH | c.1301C>G (p.Ala434Gly) c.1286C>G (p.Ala429Gly) n.963C>G c.405C>G n.816C>G c.1244C>G (p.Ala415Gly) | |
12 | g.102840414G= | CA2059441512 | PAH | c.1301C= (p.Ala434=) c.1286C= (p.Ala429=) n.963C= c.405C= n.816C= c.1244C= (p.Ala415=) | |
12 | g.102840414G>T | CA229427 | PAH | c.1301C>A (p.Ala434Asp) c.1286C>A (p.Ala429Asp) n.963C>A c.405C>A n.816C>A c.1244C>A (p.Ala415Asp) | ClinVar dbSNP gnomAD v4 |
12 | g.102840415C>A | CA386492941 | PAH | c.1300G>T (p.Ala434Ser) c.1285G>T (p.Ala429Ser) n.962G>T c.404G>T n.815G>T c.1243G>T (p.Ala415Ser) | |
12 | g.102840415C= | CA2059441515 | PAH | c.1300G= (p.Ala434=) c.1285G= (p.Ala429=) n.962G= c.404G= n.815G= c.1243G= (p.Ala415=) | |
12 | g.102840415C>G | CA386492942 | PAH | c.1300G>C (p.Ala434Pro) c.1285G>C (p.Ala429Pro) n.962G>C c.404G>C n.815G>C c.1243G>C (p.Ala415Pro) | |
12 | g.102840415C>T | CA386492943 | PAH | c.1300G>A (p.Ala434Thr) c.1285G>A (p.Ala429Thr) n.962G>A c.404G>A n.815G>A c.1243G>A (p.Ala415Thr) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.102840416C>A | CA386492944 | PAH | c.1299G>T (p.Leu433Phe) c.1284G>T (p.Leu428Phe) n.961G>T c.403G>T n.814G>T c.1242G>T (p.Leu414Phe) | |
12 | g.102840416C= | CA2059441517 | PAH | c.1299G= (p.Leu433=) c.1284G= (p.Leu428=) n.961G= c.403G= n.814G= c.1242G= (p.Leu414=) | |
12 | g.102840416C>G | CA386492945 | PAH | c.1299G>C (p.Leu433Phe) c.1284G>C (p.Leu428Phe) n.961G>C c.403G>C n.814G>C c.1242G>C (p.Leu414Phe) | |
12 | g.102840416C>T | CA6748700 | PAH | c.1299G>A (p.Leu433=) c.1284G>A (p.Leu428=) n.961G>A c.403G>A n.814G>A c.1242G>A (p.Leu414=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840417A>C | CA386492948 | PAH | c.1298T>G (p.Leu433Trp) c.1283T>G (p.Leu428Trp) n.960T>G c.402T>G n.813T>G c.1241T>G (p.Leu414Trp) | |
12 | g.102840417A>G | CA386492946 | PAH | c.1298T>C (p.Leu433Ser) c.1283T>C (p.Leu428Ser) n.960T>C c.402T>C n.813T>C c.1241T>C (p.Leu414Ser) | |
12 | g.102840417A>T | CA386492947 | PAH | c.1298T>A (p.Leu433Ter) c.1283T>A (p.Leu428Ter) n.960T>A c.402T>A n.813T>A c.1241T>A (p.Leu414Ter) | |
12 | g.102840420dup | CA16041557 | PAH | c.1298dup (p.Leu433PhefsTer3) c.1283dup (p.Leu428PhefsTer3) n.960dup c.402dup n.813dup c.1241dup (p.Leu414PhefsTer3) | ClinVar dbSNP |
12 | g.102840418A>C | CA386492949 | PAH | c.1297T>G (p.Leu433Val) c.1282T>G (p.Leu428Val) n.959T>G c.401T>G n.812T>G c.1240T>G (p.Leu414Val) | |
12 | g.102840418A>G | CA481375333 | PAH | c.1297T>C (p.Leu433=) c.1282T>C (p.Leu428=) n.959T>C c.401T>C n.812T>C c.1240T>C (p.Leu414=) | COSMIC |
12 | g.102840418A>T | CA386492950 | PAH | c.1297T>A (p.Leu433Met) c.1282T>A (p.Leu428Met) n.959T>A c.401T>A n.812T>A c.1240T>A (p.Leu414Met) | |
12 | g.102840419A>C | CA386492951 | PAH | c.1296T>G (p.Ile432Met) c.1281T>G (p.Ile427Met) n.958T>G c.400T>G n.811T>G c.1239T>G (p.Ile413Met) | gnomAD v4 |
12 | g.102840419A>G | CA481375334 | PAH | c.1296T>C (p.Ile432=) c.1281T>C (p.Ile427=) n.958T>C c.400T>C n.811T>C c.1239T>C (p.Ile413=) | |
12 | g.102840419A>T | CA481375335 | PAH | c.1296T>A (p.Ile432=) c.1281T>A (p.Ile427=) n.958T>A c.400T>A n.811T>A c.1239T>A (p.Ile413=) | |
12 | g.102840420A>C | CA386492952 | PAH | c.1295T>G (p.Ile432Ser) c.1280T>G (p.Ile427Ser) n.957T>G c.399T>G n.810T>G c.1238T>G (p.Ile413Ser) | |
12 | g.102840420A>G | CA386492953 | PAH | c.1295T>C (p.Ile432Thr) c.1280T>C (p.Ile427Thr) n.957T>C c.399T>C n.810T>C c.1238T>C (p.Ile413Thr) | gnomAD v4 |
12 | g.102840420A>T | CA386492954 | PAH | c.1295T>A (p.Ile432Asn) c.1280T>A (p.Ile427Asn) n.957T>A c.399T>A n.810T>A c.1238T>A (p.Ile413Asn) | |
12 | g.102840420_102840422del | CA912973338 | PAH | c.1293_1295del (p.Lys431_Ile432delinsAsn) c.1278_1280del (p.Lys426_Ile427delinsAsn) n.955_957del c.397_399del n.808_810del c.1236_1238del (p.Lys412_Ile413delinsAsn) | |
12 | g.102840420_102840422delinsATC | CA2059441524 | PAH | c.1293_1295delinsGAT (p.Lys431=) c.1278_1280delinsGAT (p.Lys426=) n.955_957delinsGAT c.397_399delinsGAT n.808_810delinsGAT c.1236_1238delinsGAT (p.Lys412=) | |
12 | g.102840421T>A | CA386492955 | PAH | c.1294A>T (p.Ile432Phe) c.1279A>T (p.Ile427Phe) n.956A>T c.398A>T n.809A>T c.1237A>T (p.Ile413Phe) | |
12 | g.102840421T>C | CA386492956 | PAH | c.1294A>G (p.Ile432Val) c.1279A>G (p.Ile427Val) n.956A>G c.398A>G n.809A>G c.1237A>G (p.Ile413Val) | |
12 | g.102840421T>G | CA386492957 | PAH | c.1294A>C (p.Ile432Leu) c.1279A>C (p.Ile427Leu) n.956A>C c.398A>C n.809A>C c.1237A>C (p.Ile413Leu) | |
12 | g.102840422_102840423del | CA658821439 | PAH | c.1293_1294del (p.Lys431AsnfsTer4) c.1278_1279del (p.Lys426AsnfsTer4) n.955_956del c.397_398del n.808_809del c.1236_1237del (p.Lys412AsnfsTer4) | ClinVar dbSNP |
12 | g.102840422C>A | CA386492958 | PAH | c.1293G>T (p.Lys431Asn) c.1278G>T (p.Lys426Asn) n.955G>T c.397G>T n.808G>T c.1236G>T (p.Lys412Asn) | gnomAD v4 |
12 | g.102840422C>G | CA386492959 | PAH | c.1293G>C (p.Lys431Asn) c.1278G>C (p.Lys426Asn) n.955G>C c.397G>C n.808G>C c.1236G>C (p.Lys412Asn) | |
12 | g.102840422C>T | CA481375338 | PAH | c.1293G>A (p.Lys431=) c.1278G>A (p.Lys426=) n.955G>A c.397G>A n.808G>A c.1236G>A (p.Lys412=) | |
12 | g.102840423T>A | CA386492962 | PAH | c.1292A>T (p.Lys431Met) c.1277A>T (p.Lys426Met) n.954A>T c.396A>T n.807A>T c.1235A>T (p.Lys412Met) | |
12 | g.102840423T>C | CA386492961 | PAH | c.1292A>G (p.Lys431Arg) c.1277A>G (p.Lys426Arg) n.954A>G c.396A>G n.807A>G c.1235A>G (p.Lys412Arg) | |
12 | g.102840423T>G | CA386492960 | PAH | c.1292A>C (p.Lys431Thr) c.1277A>C (p.Lys426Thr) n.954A>C c.396A>C n.807A>C c.1235A>C (p.Lys412Thr) | |
12 | g.102840424T>A | CA386492963 | PAH | c.1291A>T (p.Lys431Ter) c.1276A>T (p.Lys426Ter) n.953A>T c.395A>T n.806A>T c.1234A>T (p.Lys412Ter) | |
12 | g.102840424T>C | CA386492965 | PAH | c.1291A>G (p.Lys431Glu) c.1276A>G (p.Lys426Glu) n.953A>G c.395A>G n.806A>G c.1234A>G (p.Lys412Glu) | |
12 | g.102840424T>G | CA386492964 | PAH | c.1291A>C (p.Lys431Gln) c.1276A>C (p.Lys426Gln) n.953A>C c.395A>C n.806A>C c.1234A>C (p.Lys412Gln) | |
12 | g.102840425A= | CA2059441530 | PAH | c.1290T= (p.Leu430=) c.1275T= (p.Leu425=) n.952T= c.394T= n.805T= c.1233T= (p.Leu411=) | |
12 | g.102840425A>C | CA481375339 | PAH | c.1290T>G (p.Leu430=) c.1275T>G (p.Leu425=) n.952T>G c.394T>G n.805T>G c.1233T>G (p.Leu411=) | dbSNP |
12 | g.102840425A>G | CA481375340 | PAH | c.1290T>C (p.Leu430=) c.1275T>C (p.Leu425=) n.952T>C c.394T>C n.805T>C c.1233T>C (p.Leu411=) | |
12 | g.102840425A>T | CA481375341 | PAH | c.1290T>A (p.Leu430=) c.1275T>A (p.Leu425=) n.952T>A c.394T>A n.805T>A c.1233T>A (p.Leu411=) | |
12 | g.102840426A= | CA2059441538 | PAH | c.1289T= (p.Leu430=) c.1274T= (p.Leu425=) n.951T= c.393T= n.804T= c.1232T= (p.Leu411=) | |
12 | g.102840426A>C | CA386492966 | PAH | c.1289T>G (p.Leu430Arg) c.1274T>G (p.Leu425Arg) n.951T>G c.393T>G n.804T>G c.1232T>G (p.Leu411Arg) | |
12 | g.102840426A>G | CA229426 | PAH | c.1289T>C (p.Leu430Pro) c.1274T>C (p.Leu425Pro) n.951T>C c.393T>C n.804T>C c.1232T>C (p.Leu411Pro) | ClinVar dbSNP |
12 | g.102840426A>T | CA386492967 | PAH | c.1289T>A (p.Leu430His) c.1274T>A (p.Leu425His) n.951T>A c.393T>A n.804T>A c.1232T>A (p.Leu411His) | |
12 | g.102840427G>A | CA386492968 | PAH | c.1288C>T (p.Leu430Phe) c.1273C>T (p.Leu425Phe) n.950C>T c.392C>T n.803C>T c.1231C>T (p.Leu411Phe) | |
12 | g.102840427G>C | CA386492969 | PAH | c.1288C>G (p.Leu430Val) c.1273C>G (p.Leu425Val) n.950C>G c.392C>G n.803C>G c.1231C>G (p.Leu411Val) | |
12 | g.102840427G>T | CA386492970 | PAH | c.1288C>A (p.Leu430Ile) c.1273C>A (p.Leu425Ile) n.950C>A c.392C>A n.803C>A c.1231C>A (p.Leu411Ile) | |
12 | g.102840428C>A | CA386492971 | PAH | c.1287G>T (p.Gln429His) c.1272G>T (p.Gln424His) n.949G>T c.391G>T n.802G>T c.1230G>T (p.Gln410His) | |
12 | g.102840428C>G | CA386492972 | PAH | c.1287G>C (p.Gln429His) c.1272G>C (p.Gln424His) n.949G>C c.391G>C n.802G>C c.1230G>C (p.Gln410His) | |
12 | g.102840428C>T | CA481375342 | PAH | c.1287G>A (p.Gln429=) c.1272G>A (p.Gln424=) n.949G>A c.391G>A n.802G>A c.1230G>A (p.Gln410=) | ClinVar dbSNP |
12 | g.102840429T>A | CA386492973 | PAH | c.1286A>T (p.Gln429Leu) c.1271A>T (p.Gln424Leu) n.948A>T c.390A>T n.801A>T c.1229A>T (p.Gln410Leu) | |
12 | g.102840429T>C | CA386492974 | PAH | c.1286A>G (p.Gln429Arg) c.1271A>G (p.Gln424Arg) n.948A>G c.390A>G n.801A>G c.1229A>G (p.Gln410Arg) | |
12 | g.102840429T>G | CA239743 | PAH | c.1286A>C (p.Gln429Pro) c.1271A>C (p.Gln424Pro) n.948A>C c.390A>C n.801A>C c.1229A>C (p.Gln410Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.102840429T= | CA2059441543 | PAH | c.1286A= (p.Gln429=) c.1271A= (p.Gln424=) n.948A= c.390A= n.801A= c.1229A= (p.Gln410=) | |
12 | g.102840430G>A | CA6748702 | PAH | c.1285C>T (p.Gln429Ter) c.1270C>T (p.Gln424Ter) n.947C>T c.389C>T n.800C>T c.1228C>T (p.Gln410Ter) | dbSNP ExAC gnomAD v2 |
12 | g.102840430G>C | CA386492975 | PAH | c.1285C>G (p.Gln429Glu) c.1270C>G (p.Gln424Glu) n.947C>G c.389C>G n.800C>G c.1228C>G (p.Gln410Glu) | |
12 | g.102840430G= | CA2059441556 | PAH | c.1285C= (p.Gln429=) c.1270C= (p.Gln424=) n.947C= c.389C= n.800C= c.1228C= (p.Gln410=) | |
12 | g.102840430G>T | CA6748701 | PAH | c.1285C>A (p.Gln429Lys) c.1270C>A (p.Gln424Lys) n.947C>A c.389C>A n.800C>A c.1228C>A (p.Gln410Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840431C>A | CA386492976 | PAH | c.1284G>T (p.Gln428His) c.1269G>T (p.Gln423His) n.946G>T c.388G>T n.799G>T c.1227G>T (p.Gln409His) | |
12 | g.102840431C>G | CA386492977 | PAH | c.1284G>C (p.Gln428His) c.1269G>C (p.Gln423His) n.946G>C c.388G>C n.799G>C c.1227G>C (p.Gln409His) | |
12 | g.102840431C>T | CA481375343 | PAH | c.1284G>A (p.Gln428=) c.1269G>A (p.Gln423=) n.946G>A c.388G>A n.799G>A c.1227G>A (p.Gln409=) | |
12 | g.102840432T>A | CA386492978 | PAH | c.1283A>T (p.Gln428Leu) c.1268A>T (p.Gln423Leu) n.945A>T c.387A>T n.798A>T c.1226A>T (p.Gln409Leu) | |
12 | g.102840432T>C | CA242743425 | PAH | c.1283A>G (p.Gln428Arg) c.1268A>G (p.Gln423Arg) n.945A>G c.387A>G n.798A>G c.1226A>G (p.Gln409Arg) | dbSNP gnomAD v4 |
12 | g.102840432T>G | CA386492979 | PAH | c.1283A>C (p.Gln428Pro) c.1268A>C (p.Gln423Pro) n.945A>C c.387A>C n.798A>C c.1226A>C (p.Gln409Pro) | |
12 | g.102840432T= | CA2059441558 | PAH | c.1283A= (p.Gln428=) c.1268A= (p.Gln423=) n.945A= c.387A= n.798A= c.1226A= (p.Gln409=) | |
12 | g.102840433G>A | CA16041558 | PAH | c.1282C>T (p.Gln428Ter) c.1267C>T (p.Gln423Ter) n.944C>T c.386C>T n.797C>T c.1225C>T (p.Gln409Ter) | ClinVar dbSNP gnomAD v4 |
12 | g.102840433G>C | CA6748703 | PAH | c.1282C>G (p.Gln428Glu) c.1267C>G (p.Gln423Glu) n.944C>G c.386C>G n.797C>G c.1225C>G (p.Gln409Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840433G= | CA2059441568 | PAH | c.1282C= (p.Gln428=) c.1267C= (p.Gln423=) n.944C= c.386C= n.797C= c.1225C= (p.Gln409=) | |
12 | g.102840433G>T | CA386492980 | PAH | c.1282C>A (p.Gln428Lys) c.1267C>A (p.Gln423Lys) n.944C>A c.386C>A n.797C>A c.1225C>A (p.Gln409Lys) | |
12 | g.102840435del | CA16020989 | PAH | c.1282del (p.Gln428SerfsTer24) c.1267del (p.Gln423SerfsTer24) n.944del c.386del n.797del c.1225del (p.Gln409SerfsTer24) | ClinVar dbSNP |
12 | g.102840434G>A | CA481375345 | PAH | c.1281C>T (p.Thr427=) c.1266C>T (p.Thr422=) n.943C>T c.385C>T n.796C>T c.1224C>T (p.Thr408=) | |
12 | g.102840434G>C | CA481375346 | PAH | c.1281C>G (p.Thr427=) c.1266C>G (p.Thr422=) n.943C>G c.385C>G n.796C>G c.1224C>G (p.Thr408=) | |
12 | g.102840434G>T | CA481375347 | PAH | c.1281C>A (p.Thr427=) c.1266C>A (p.Thr422=) n.943C>A c.385C>A n.796C>A c.1224C>A (p.Thr408=) | |
12 | g.102840435G>A | CA386492981 | PAH | c.1280C>T (p.Thr427Ile) c.1265C>T (p.Thr422Ile) n.942C>T c.384C>T n.795C>T c.1223C>T (p.Thr408Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840435G>C | CA386492982 | PAH | c.1280C>G (p.Thr427Ser) c.1265C>G (p.Thr422Ser) n.942C>G c.384C>G n.795C>G c.1223C>G (p.Thr408Ser) | |
12 | g.102840435G= | CA2059441574 | PAH | c.1280C= (p.Thr427=) c.1265C= (p.Thr422=) n.942C= c.384C= n.795C= c.1223C= (p.Thr408=) | |
12 | g.102840435G>T | CA386492983 | PAH | c.1280C>A (p.Thr427Asn) c.1265C>A (p.Thr422Asn) n.942C>A c.384C>A n.795C>A c.1223C>A (p.Thr408Asn) | |
12 | g.102840436T>A | CA386492985 | PAH | c.1279A>T (p.Thr427Ser) c.1264A>T (p.Thr422Ser) n.941A>T c.383A>T n.794A>T c.1222A>T (p.Thr408Ser) | |
12 | g.102840436T>C | CA386492986 | PAH | c.1279A>G (p.Thr427Ala) c.1264A>G (p.Thr422Ala) n.941A>G c.383A>G n.794A>G c.1222A>G (p.Thr408Ala) | gnomAD v4 |
12 | g.102840436T>G | CA386492984 | PAH | c.1279A>C (p.Thr427Pro) c.1264A>C (p.Thr422Pro) n.941A>C c.383A>C n.794A>C c.1222A>C (p.Thr408Pro) | |
12 | g.102840437A= | CA2059441585 | PAH | c.1278T= (p.Asn426=) c.1263T= (p.Asn421=) n.940T= c.382T= n.793T= c.1221T= (p.Asn407=) | |
12 | g.102840437A>C | CA386492987 | PAH | c.1278T>G (p.Asn426Lys) c.1263T>G (p.Asn421Lys) n.940T>G c.382T>G n.793T>G c.1221T>G (p.Asn407Lys) | |
12 | g.102840437A>G | CA145978 | PAH | c.1278T>C (p.Asn426=) c.1263T>C (p.Asn421=) n.940T>C c.382T>C n.793T>C c.1221T>C (p.Asn407=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840437A>T | CA386492988 | PAH | c.1278T>A (p.Asn426Lys) c.1263T>A (p.Asn421Lys) n.940T>A c.382T>A n.793T>A c.1221T>A (p.Asn407Lys) | |
12 | g.102840438T>A | CA386492989 | PAH | c.1277A>T (p.Asn426Ile) c.1262A>T (p.Asn421Ile) n.939A>T c.381A>T n.792A>T c.1220A>T (p.Asn407Ile) | |
12 | g.102840438T>C | CA386492990 | PAH | c.1277A>G (p.Asn426Ser) c.1262A>G (p.Asn421Ser) n.939A>G c.381A>G n.792A>G c.1220A>G (p.Asn407Ser) | gnomAD v4 |
12 | g.102840438T>G | CA386492991 | PAH | c.1277A>C (p.Asn426Thr) c.1262A>C (p.Asn421Thr) n.939A>C c.381A>C n.792A>C c.1220A>C (p.Asn407Thr) | |
12 | g.102840439T>A | CA386492994 | PAH | c.1276A>T (p.Asn426Tyr) c.1261A>T (p.Asn421Tyr) n.938A>T c.380A>T n.791A>T c.1219A>T (p.Asn407Tyr) | |
12 | g.102840439T>C | CA386492992 | PAH | c.1276A>G (p.Asn426Asp) c.1261A>G (p.Asn421Asp) n.938A>G c.380A>G n.791A>G c.1219A>G (p.Asn407Asp) | |
12 | g.102840439T>G | CA386492993 | PAH | c.1276A>C (p.Asn426His) c.1261A>C (p.Asn421His) n.938A>C c.380A>C n.791A>C c.1219A>C (p.Asn407His) | |
12 | g.102840440G>A | CA481375348 | PAH | c.1275C>T (p.Asp425=) c.1260C>T (p.Asp420=) n.937C>T c.379C>T n.790C>T c.1218C>T (p.Asp406=) | |
12 | g.102840440G>C | CA386492995 | PAH | c.1275C>G (p.Asp425Glu) c.1260C>G (p.Asp420Glu) n.937C>G c.379C>G n.790C>G c.1218C>G (p.Asp406Glu) | gnomAD v4 |
12 | g.102840440G>T | CA386492996 | PAH | c.1275C>A (p.Asp425Glu) c.1260C>A (p.Asp420Glu) n.937C>A c.379C>A n.790C>A c.1218C>A (p.Asp406Glu) | COSMIC |
12 | g.102840441T>A | CA386492997 | PAH | c.1274A>T (p.Asp425Val) c.1259A>T (p.Asp420Val) n.936A>T c.378A>T n.789A>T c.1217A>T (p.Asp406Val) | |
12 | g.102840441T>C | CA386492998 | PAH | c.1274A>G (p.Asp425Gly) c.1259A>G (p.Asp420Gly) n.936A>G c.378A>G n.789A>G c.1217A>G (p.Asp406Gly) | |
12 | g.102840441T>G | CA386492999 | PAH | c.1274A>C (p.Asp425Ala) c.1259A>C (p.Asp420Ala) n.936A>C c.378A>C n.789A>C c.1217A>C (p.Asp406Ala) | |
12 | g.102840442C>A | CA386493000 | PAH | c.1273G>T (p.Asp425Tyr) c.1258G>T (p.Asp420Tyr) n.935G>T c.377G>T n.788G>T c.1216G>T (p.Asp406Tyr) | |
12 | g.102840442C= | CA2059441594 | PAH | c.1273G= (p.Asp425=) c.1258G= (p.Asp420=) n.935G= c.377G= n.788G= c.1216G= (p.Asp406=) | |
12 | g.102840442C>G | CA386493002 | PAH | c.1273G>C (p.Asp425His) c.1258G>C (p.Asp420His) n.935G>C c.377G>C n.788G>C c.1216G>C (p.Asp406His) | |
12 | g.102840442C>T | CA386493001 | PAH | c.1273G>A (p.Asp425Asn) c.1258G>A (p.Asp420Asn) n.935G>A c.377G>A n.788G>A c.1216G>A (p.Asp406Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840443C>A | CA386493003 | PAH | c.1272G>T (p.Leu424Phe) c.1257G>T (p.Leu419Phe) n.934G>T c.376G>T n.787G>T c.1215G>T (p.Leu405Phe) | |
12 | g.102840443C>G | CA386493004 | PAH | c.1272G>C (p.Leu424Phe) c.1257G>C (p.Leu419Phe) n.934G>C c.376G>C n.787G>C c.1215G>C (p.Leu405Phe) | |
12 | g.102840443C>T | CA481375349 | PAH | c.1272G>A (p.Leu424=) c.1257G>A (p.Leu419=) n.934G>A c.376G>A n.787G>A c.1215G>A (p.Leu405=) | |
12 | g.102840444A= | CA2059441609 | PAH | c.1271T= (p.Leu424=) c.1256T= (p.Leu419=) n.933T= c.375T= n.786T= c.1214T= (p.Leu405=) | |
12 | g.102840444A>C | CA386493005 | PAH | c.1271T>G (p.Leu424Trp) c.1256T>G (p.Leu419Trp) n.933T>G c.375T>G n.786T>G c.1214T>G (p.Leu405Trp) | |
12 | g.102840444A>G | CA229424 | PAH | c.1271T>C (p.Leu424Ser) c.1256T>C (p.Leu419Ser) n.933T>C c.375T>C n.786T>C c.1214T>C (p.Leu405Ser) | ClinVar dbSNP |
12 | g.102840444A>T | CA16020988 | PAH | c.1271T>A (p.Leu424Ter) c.1256T>A (p.Leu419Ter) n.933T>A c.375T>A n.786T>A c.1214T>A (p.Leu405Ter) | ClinVar dbSNP |
12 | g.102840445A= | CA2059441621 | PAH | c.1270T= (p.Leu424=) c.1255T= (p.Leu419=) n.932T= c.374T= n.785T= c.1213T= (p.Leu405=) | |
12 | g.102840445A>C | CA386493006 | PAH | c.1270T>G (p.Leu424Val) c.1255T>G (p.Leu419Val) n.932T>G c.374T>G n.785T>G c.1213T>G (p.Leu405Val) | dbSNP gnomAD v4 |
12 | g.102840445A>G | CA242743432 | PAH | c.1270T>C (p.Leu424=) c.1255T>C (p.Leu419=) n.932T>C c.374T>C n.785T>C c.1213T>C (p.Leu405=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840445A>T | CA386493007 | PAH | c.1270T>A (p.Leu424Met) c.1255T>A (p.Leu419Met) n.932T>A c.374T>A n.785T>A c.1213T>A (p.Leu405Met) | |
12 | g.102840446del | CA16020987 | PAH | c.1269del (p.Leu424TrpfsTer28) c.1254del (p.Leu419TrpfsTer28) n.931del c.373del n.784del c.1212del (p.Leu405TrpfsTer28) | |
12 | g.102840446G>A | CA481375350 | PAH | c.1269C>T (p.Val423=) c.1254C>T (p.Val418=) n.931C>T c.373C>T n.784C>T c.1212C>T (p.Val404=) | |
12 | g.102840446G>C | CA481375351 | PAH | c.1269C>G (p.Val423=) c.1254C>G (p.Val418=) n.931C>G c.373C>G n.784C>G c.1212C>G (p.Val404=) | |
12 | g.102840446G>T | CA481375352 | PAH | c.1269C>A (p.Val423=) c.1254C>A (p.Val418=) n.931C>A c.373C>A n.784C>A c.1212C>A (p.Val404=) | |
12 | g.102840447A>C | CA386493008 | PAH | c.1268T>G (p.Val423Gly) c.1253T>G (p.Val418Gly) n.930T>G c.372T>G n.783T>G c.1211T>G (p.Val404Gly) | |
12 | g.102840447A>G | CA386493009 | PAH | c.1268T>C (p.Val423Ala) c.1253T>C (p.Val418Ala) n.930T>C c.372T>C n.783T>C c.1211T>C (p.Val404Ala) | COSMIC |
12 | g.102840447A>T | CA386493010 | PAH | c.1268T>A (p.Val423Asp) c.1253T>A (p.Val418Asp) n.930T>A c.372T>A n.783T>A c.1211T>A (p.Val404Asp) | |
12 | g.102840448C>A | CA386493013 | PAH | c.1267G>T (p.Val423Phe) c.1252G>T (p.Val418Phe) n.929G>T c.371G>T n.782G>T c.1210G>T (p.Val404Phe) | |
12 | g.102840448C= | CA2059441631 | PAH | c.1267G= (p.Val423=) c.1252G= (p.Val418=) n.929G= c.371G= n.782G= c.1210G= (p.Val404=) | |
12 | g.102840448C>G | CA386493012 | PAH | c.1267G>C (p.Val423Leu) c.1252G>C (p.Val418Leu) n.929G>C c.371G>C n.782G>C c.1210G>C (p.Val404Leu) | |
12 | g.102840448C>T | CA386493011 | PAH | c.1267G>A (p.Val423Ile) c.1252G>A (p.Val418Ile) n.929G>A c.371G>A n.782G>A c.1210G>A (p.Val404Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840449C>A | CA386493014 | PAH | c.1266G>T (p.Glu422Asp) c.1251G>T (p.Glu417Asp) n.928G>T c.370G>T n.781G>T c.1209G>T (p.Glu403Asp) | |
12 | g.102840449C>G | CA386493015 | PAH | c.1266G>C (p.Glu422Asp) c.1251G>C (p.Glu417Asp) n.928G>C c.370G>C n.781G>C c.1209G>C (p.Glu403Asp) | |
12 | g.102840449C>T | CA481375355 | PAH | c.1266G>A (p.Glu422=) c.1251G>A (p.Glu417=) n.928G>A c.370G>A n.781G>A c.1209G>A (p.Glu403=) | ClinVar |
12 | g.102840450T>A | CA386493016 | PAH | c.1265A>T (p.Glu422Val) c.1250A>T (p.Glu417Val) n.927A>T c.369A>T n.780A>T c.1208A>T (p.Glu403Val) | |
12 | g.102840450T>C | CA386493017 | PAH | c.1265A>G (p.Glu422Gly) c.1250A>G (p.Glu417Gly) n.927A>G c.369A>G n.780A>G c.1208A>G (p.Glu403Gly) | |
12 | g.102840450T>G | CA386493018 | PAH | c.1265A>C (p.Glu422Ala) c.1250A>C (p.Glu417Ala) n.927A>C c.369A>C n.780A>C c.1208A>C (p.Glu403Ala) | dbSNP |
12 | g.102840450T= | CA2059441633 | PAH | c.1265A= (p.Glu422=) c.1250A= (p.Glu417=) n.927A= c.369A= n.780A= c.1208A= (p.Glu403=) | |
12 | g.102840451C>A | CA386493019 | PAH | c.1264G>T (p.Glu422Ter) c.1249G>T (p.Glu417Ter) n.926G>T c.368G>T n.779G>T c.1207G>T (p.Glu403Ter) | |
12 | g.102840451C= | CA2059441640 | PAH | c.1264G= (p.Glu422=) c.1249G= (p.Glu417=) n.926G= c.368G= n.779G= c.1207G= (p.Glu403=) | |
12 | g.102840451C>G | CA386493020 | PAH | c.1264G>C (p.Glu422Gln) c.1249G>C (p.Glu417Gln) n.926G>C c.368G>C n.779G>C c.1207G>C (p.Glu403Gln) | |
12 | g.102840451C>T | CA229422 | PAH | c.1264G>A (p.Glu422Lys) c.1249G>A (p.Glu417Lys) n.926G>A c.368G>A n.779G>A c.1207G>A (p.Glu403Lys) | ClinVar dbSNP |
12 | g.102840452A>C | CA386493021 | PAH | c.1263T>G (p.Ile421Met) c.1248T>G (p.Ile416Met) n.925T>G c.367T>G n.778T>G c.1206T>G (p.Ile402Met) | |
12 | g.102840452A>G | CA481375357 | PAH | c.1263T>C (p.Ile421=) c.1248T>C (p.Ile416=) n.925T>C c.367T>C n.778T>C c.1206T>C (p.Ile402=) | |
12 | g.102840452A>T | CA481375358 | PAH | c.1263T>A (p.Ile421=) c.1248T>A (p.Ile416=) n.925T>A c.367T>A n.778T>A c.1206T>A (p.Ile402=) | |
12 | g.102840453A= | CA2059441646 | PAH | c.1262T= (p.Ile421=) c.1247T= (p.Ile416=) n.924T= c.366T= n.777T= c.1205T= (p.Ile402=) | |
12 | g.102840453A>C | CA16020986 | PAH | c.1262T>G (p.Ile421Ser) c.1247T>G (p.Ile416Ser) n.924T>G c.366T>G n.777T>G c.1205T>G (p.Ile402Ser) | ClinVar dbSNP |
12 | g.102840453A>G | CA229420 | PAH | c.1262T>C (p.Ile421Thr) c.1247T>C (p.Ile416Thr) n.924T>C c.366T>C n.777T>C c.1205T>C (p.Ile402Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.102840453A>T | CA386493022 | PAH | c.1262T>A (p.Ile421Asn) c.1247T>A (p.Ile416Asn) n.924T>A c.366T>A n.777T>A c.1205T>A (p.Ile402Asn) | |
12 | g.102840454T>A | CA386493023 | PAH | c.1261A>T (p.Ile421Phe) c.1246A>T (p.Ile416Phe) n.923A>T c.365A>T n.776A>T c.1204A>T (p.Ile402Phe) | |
12 | g.102840454T>C | CA386493024 | PAH | c.1261A>G (p.Ile421Val) c.1246A>G (p.Ile416Val) n.923A>G c.365A>G n.776A>G c.1204A>G (p.Ile402Val) | |
12 | g.102840454T>G | CA386493025 | PAH | c.1261A>C (p.Ile421Leu) c.1246A>C (p.Ile416Leu) n.923A>C c.365A>C n.776A>C c.1204A>C (p.Ile402Leu) | |
12 | g.102840455C>A | CA386493027 | PAH | c.1260G>T (p.Arg420Ser) c.1245G>T (p.Arg415Ser) n.922G>T c.364G>T n.775G>T c.1203G>T (p.Arg401Ser) | |
12 | g.102840455C>G | CA386493026 | PAH | c.1260G>C (p.Arg420Ser) c.1245G>C (p.Arg415Ser) n.922G>C c.364G>C n.775G>C c.1203G>C (p.Arg401Ser) | |
12 | g.102840455C>T | CA481375359 | PAH | c.1260G>A (p.Arg420=) c.1245G>A (p.Arg415=) n.922G>A c.364G>A n.775G>A c.1203G>A (p.Arg401=) | |
12 | g.102840456C>A | CA6748704 | PAH | c.1259G>T (p.Arg420Met) c.1244G>T (p.Arg415Met) n.921G>T c.363G>T n.774G>T c.1202G>T (p.Arg401Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840456C= | CA2059441654 | PAH | c.1259G= (p.Arg420=) c.1244G= (p.Arg415=) n.921G= c.363G= n.774G= c.1202G= (p.Arg401=) | |
12 | g.102840456C>G | CA242743437 | PAH | c.1259G>C (p.Arg420Thr) c.1244G>C (p.Arg415Thr) n.921G>C c.363G>C n.774G>C c.1202G>C (p.Arg401Thr) | ClinVar dbSNP gnomAD v4 |
12 | g.102840456C>T | CA386493028 | PAH | c.1259G>A (p.Arg420Lys) c.1244G>A (p.Arg415Lys) n.921G>A c.363G>A n.774G>A c.1202G>A (p.Arg401Lys) | COSMIC |
12 | g.102840457T>A | CA386493029 | PAH | c.1258A>T (p.Arg420Trp) c.1243A>T (p.Arg415Trp) n.920A>T c.362A>T n.773A>T c.1201A>T (p.Arg401Trp) | |
12 | g.102840457T>C | CA386493030 | PAH | c.1258A>G (p.Arg420Gly) c.1243A>G (p.Arg415Gly) n.920A>G c.362A>G n.773A>G c.1201A>G (p.Arg401Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840457T>G | CA481375360 | PAH | c.1258A>C (p.Arg420=) c.1243A>C (p.Arg415=) n.920A>C c.362A>C n.773A>C c.1201A>C (p.Arg401=) | |
12 | g.102840457T= | CA2059441668 | PAH | c.1258A= (p.Arg420=) c.1243A= (p.Arg415=) n.920A= c.362A= n.773A= c.1201A= (p.Arg401=) | |
12 | g.102840458T>A | CA386493031 | PAH | c.1257A>T (p.Gln419His) c.1242A>T (p.Gln414His) n.919A>T c.361A>T n.772A>T c.1200A>T (p.Gln400His) | |
12 | g.102840458T>C | CA481375361 | PAH | c.1257A>G (p.Gln419=) c.1242A>G (p.Gln414=) n.919A>G c.361A>G n.772A>G c.1200A>G (p.Gln400=) | ClinVar dbSNP |
12 | g.102840458T>G | CA386493032 | PAH | c.1257A>C (p.Gln419His) c.1242A>C (p.Gln414His) n.919A>C c.361A>C n.772A>C c.1200A>C (p.Gln400His) | |
12 | g.102840459T>A | CA386493033 | PAH | c.1256A>T (p.Gln419Leu) c.1241A>T (p.Gln414Leu) n.918A>T c.360A>T n.771A>T c.1199A>T (p.Gln400Leu) | |
12 | g.102840459T>C | CA6748705 | PAH | c.1256A>G (p.Gln419Arg) c.1241A>G (p.Gln414Arg) n.918A>G c.360A>G n.771A>G c.1199A>G (p.Gln400Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840459T>G | CA16020985 | PAH | c.1256A>C (p.Gln419Pro) c.1241A>C (p.Gln414Pro) n.918A>C c.360A>C n.771A>C c.1199A>C (p.Gln400Pro) | |
12 | g.102840459T= | CA2059441678 | PAH | c.1256A= (p.Gln419=) c.1241A= (p.Gln414=) n.918A= c.360A= n.771A= c.1199A= (p.Gln400=) | |
12 | g.102840460G>A | CA386493034 | PAH | c.1255C>T (p.Gln419Ter) c.1240C>T (p.Gln414Ter) n.917C>T c.359C>T n.770C>T c.1198C>T (p.Gln400Ter) | gnomAD v4 |
12 | g.102840460G>C | CA386493035 | PAH | c.1255C>G (p.Gln419Glu) c.1240C>G (p.Gln414Glu) n.917C>G c.359C>G n.770C>G c.1198C>G (p.Gln400Glu) | |
12 | g.102840460G>T | CA386493036 | PAH | c.1255C>A (p.Gln419Lys) c.1240C>A (p.Gln414Lys) n.917C>A c.359C>A n.770C>A c.1198C>A (p.Gln400Lys) | gnomAD v3 gnomAD v4 |
12 | g.102840461G>A | CA6748706 | PAH | c.1254C>T (p.Thr418=) c.1239C>T (p.Thr413=) n.916C>T c.358C>T n.769C>T c.1197C>T (p.Thr399=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.102840461G>C | CA481375362 | PAH | c.1254C>G (p.Thr418=) c.1239C>G (p.Thr413=) n.916C>G c.358C>G n.769C>G c.1197C>G (p.Thr399=) | |
12 | g.102840461G= | CA2059441682 | PAH | c.1254C= (p.Thr418=) c.1239C= (p.Thr413=) n.916C= c.358C= n.769C= c.1197C= (p.Thr399=) | |
12 | g.102840461G>T | CA481375363 | PAH | c.1254C>A (p.Thr418=) c.1239C>A (p.Thr413=) n.916C>A c.358C>A n.769C>A c.1197C>A (p.Thr399=) | ClinVar dbSNP |
12 | g.102840462G>A | CA386493037 | PAH | c.1253C>T (p.Thr418Ile) c.1238C>T (p.Thr413Ile) n.915C>T c.357C>T n.768C>T c.1196C>T (p.Thr399Ile) | ClinVar dbSNP |
12 | g.102840462G>C | CA386493038 | PAH | c.1253C>G (p.Thr418Ser) c.1238C>G (p.Thr413Ser) n.915C>G c.357C>G n.768C>G c.1196C>G (p.Thr399Ser) | |
12 | g.102840462G= | CA2059441688 | PAH | c.1253C= (p.Thr418=) c.1238C= (p.Thr413=) n.915C= c.357C= n.768C= c.1196C= (p.Thr399=) | |
12 | g.102840462G>T | CA16020984 | PAH | c.1253C>A (p.Thr418Asn) c.1238C>A (p.Thr413Asn) n.915C>A c.357C>A n.768C>A c.1196C>A (p.Thr399Asn) | ClinVar |
12 | g.102840463T>A | CA386493039 | PAH | c.1252A>T (p.Thr418Ser) c.1237A>T (p.Thr413Ser) n.914A>T c.356A>T n.767A>T c.1195A>T (p.Thr399Ser) | |
12 | g.102840463T>C | CA386493040 | PAH | c.1252A>G (p.Thr418Ala) c.1237A>G (p.Thr413Ala) n.914A>G c.356A>G n.767A>G c.1195A>G (p.Thr399Ala) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.102840463T>G | CA229418 | PAH | c.1252A>C (p.Thr418Pro) c.1237A>C (p.Thr413Pro) n.914A>C c.356A>C n.767A>C c.1195A>C (p.Thr399Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102840463T= | CA2059441702 | PAH | c.1252A= (p.Thr418=) c.1237A= (p.Thr413=) n.914A= c.356A= n.767A= c.1195A= (p.Thr399=) | |
12 | g.102840464G>A | CA481375364 | PAH | c.1251C>T (p.Tyr417=) c.1236C>T (p.Tyr412=) n.913C>T c.355C>T n.766C>T c.1194C>T (p.Tyr398=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.102840464G>C | CA386493041 | PAH | c.1251C>G (p.Tyr417Ter) c.1236C>G (p.Tyr412Ter) n.913C>G c.355C>G n.766C>G c.1194C>G (p.Tyr398Ter) | |
12 | g.102840464G= | CA2059441708 | PAH | c.1251C= (p.Tyr417=) c.1236C= (p.Tyr412=) n.913C= c.355C= n.766C= c.1194C= (p.Tyr398=) | |
12 | g.102840464G>T | CA386493042 | PAH | c.1251C>A (p.Tyr417Ter) c.1236C>A (p.Tyr412Ter) n.913C>A c.355C>A n.766C>A c.1194C>A (p.Tyr398Ter) | COSMIC |
12 | g.102840465T>A | CA386493044 | PAH | c.1250A>T (p.Tyr417Phe) c.1235A>T (p.Tyr412Phe) n.912A>T c.354A>T n.765A>T c.1193A>T (p.Tyr398Phe) | |
12 | g.102840465T>C | CA16020983 | PAH | c.1250A>G (p.Tyr417Cys) c.1235A>G (p.Tyr412Cys) n.912A>G c.354A>G n.765A>G c.1193A>G (p.Tyr398Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.102840465T>G | CA386493043 | PAH | c.1250A>C (p.Tyr417Ser) c.1235A>C (p.Tyr412Ser) n.912A>C c.354A>C n.765A>C c.1193A>C (p.Tyr398Ser) | |
12 | g.102840465T= | CA2059441716 | PAH | c.1250A= (p.Tyr417=) c.1235A= (p.Tyr412=) n.912A= c.354A= n.765A= c.1193A= (p.Tyr398=) | |
12 | g.102840466A= | CA2059441723 | PAH | c.1249T= (p.Tyr417=) c.1234T= (p.Tyr412=) n.911T= c.353T= n.764T= c.1192T= (p.Tyr398=) | |
12 | g.102840466A>C | CA16020982 | PAH | c.1249T>G (p.Tyr417Asp) c.1234T>G (p.Tyr412Asp) n.911T>G c.353T>G n.764T>G c.1192T>G (p.Tyr398Asp) | ClinVar dbSNP |
12 | g.102840466A>G | CA229417 | PAH | c.1249T>C (p.Tyr417His) c.1234T>C (p.Tyr412His) n.911T>C c.353T>C n.764T>C c.1192T>C (p.Tyr398His) | ClinVar dbSNP |
12 | g.102840466A>T | CA229415 | PAH | c.1249T>A (p.Tyr417Asn) c.1234T>A (p.Tyr412Asn) n.911T>A c.353T>A n.764T>A c.1192T>A (p.Tyr398Asn) | ClinVar dbSNP |
12 | g.102840467T>A | CA481375365 | PAH | c.1248A>T (p.Pro416=) c.1233A>T (p.Pro411=) n.910A>T c.352A>T n.763A>T c.1191A>T (p.Pro397=) | |
12 | g.102840467T>C | CA481375366 | PAH | c.1248A>G (p.Pro416=) c.1233A>G (p.Pro411=) n.910A>G c.352A>G n.763A>G c.1191A>G (p.Pro397=) | ClinVar gnomAD v4 |
12 | g.102840467T>G | CA481375367 | PAH | c.1248A>C (p.Pro416=) c.1233A>C (p.Pro411=) n.910A>C c.352A>C n.763A>C c.1191A>C (p.Pro397=) | ClinVar dbSNP gnomAD v4 |
12 | g.102840467T= | CA2059441736 | PAH | c.1248A= (p.Pro416=) c.1233A= (p.Pro411=) n.910A= c.352A= n.763A= c.1191A= (p.Pro397=) | |
12 | g.102840467_102840468delinsGT | CA2695217219 | PAH | c.1247_1248delinsAC (p.Pro416His) c.1232_1233delinsAC (p.Pro411His) n.909_910delinsAC c.351_352delinsAC n.762_763delinsAC c.1190_1191delinsAC (p.Pro397His) |