Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |