UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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) | |
| 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) | |
| 12 | g.102840468G>A | CA386493045 | PAH | c.1247C>T (p.Pro416Leu) c.1232C>T (p.Pro411Leu) n.909C>T c.351C>T n.762C>T c.1190C>T (p.Pro397Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102840468G>C | CA386493046 | PAH | c.1247C>G (p.Pro416Arg) c.1232C>G (p.Pro411Arg) n.909C>G c.351C>G n.762C>G c.1190C>G (p.Pro397Arg) | |
| 12 | g.102840468G= | CA2059441746 | PAH | c.1247C= (p.Pro416=) c.1232C= (p.Pro411=) n.909C= c.351C= n.762C= c.1190C= (p.Pro397=) | |
| 12 | g.102840468G>T | CA16020981 | PAH | c.1247C>A (p.Pro416Gln) c.1232C>A (p.Pro411Gln) n.909C>A c.351C>A n.762C>A c.1190C>A (p.Pro397Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102840470del | CA2695217220 | PAH | c.1247del (p.Pro416HisfsTer?) c.1232del (p.Pro411HisfsTer?) n.909del c.351del n.762del c.1190del (p.Pro397HisfsTer?) | |
| 12 | g.102840469G>A | CA386493047 | PAH | c.1246C>T (p.Pro416Ser) c.1231C>T (p.Pro411Ser) n.908C>T c.350C>T n.761C>T c.1189C>T (p.Pro397Ser) | |
| 12 | g.102840469G>C | CA386493048 | PAH | c.1246C>G (p.Pro416Ala) c.1231C>G (p.Pro411Ala) n.908C>G c.350C>G n.761C>G c.1189C>G (p.Pro397Ala) | |
| 12 | g.102840469G= | CA2059441765 | PAH | c.1246C= (p.Pro416=) c.1231C= (p.Pro411=) n.908C= c.350C= n.761C= c.1189C= (p.Pro397=) | |
| 12 | g.102840469G>T | CA16020980 | PAH | c.1246C>A (p.Pro416Thr) c.1231C>A (p.Pro411Thr) n.908C>A c.350C>A n.761C>A c.1189C>A (p.Pro397Thr) | ClinVar dbSNP |
| 12 | g.102840470G>A | CA481375368 | PAH | c.1245C>T (p.Asp415=) c.1230C>T (p.Asp410=) n.907C>T c.349C>T n.760C>T c.1188C>T (p.Asp396=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102840470G>C | CA386493049 | PAH | c.1245C>G (p.Asp415Glu) c.1230C>G (p.Asp410Glu) n.907C>G c.349C>G n.760C>G c.1188C>G (p.Asp396Glu) | |
| 12 | g.102840470G= | CA2059441772 | PAH | c.1245C= (p.Asp415=) c.1230C= (p.Asp410=) n.907C= c.349C= n.760C= c.1188C= (p.Asp396=) | |
| 12 | g.102840470G>T | CA386493050 | PAH | c.1245C>A (p.Asp415Glu) c.1230C>A (p.Asp410Glu) n.907C>A c.349C>A n.760C>A c.1188C>A (p.Asp396Glu) | |
| 12 | g.102840471T>A | CA16020979 | PAH | c.1244A>T (p.Asp415Val) c.1229A>T (p.Asp410Val) n.906A>T c.348A>T n.759A>T c.1187A>T (p.Asp396Val) | ClinVar dbSNP |
| 12 | g.102840471T>C | CA386493051 | PAH | c.1244A>G (p.Asp415Gly) c.1229A>G (p.Asp410Gly) n.906A>G c.348A>G n.759A>G c.1187A>G (p.Asp396Gly) | |
| 12 | g.102840471T>G | CA386493052 | PAH | c.1244A>C (p.Asp415Ala) c.1229A>C (p.Asp410Ala) n.906A>C c.348A>C n.759A>C c.1187A>C (p.Asp396Ala) | |
| 12 | g.102840472C>A | CA16020978 | PAH | c.1243G>T (p.Asp415Tyr) c.1228G>T (p.Asp410Tyr) n.905G>T c.347G>T n.758G>T c.1186G>T (p.Asp396Tyr) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102840472C= | CA2059441785 | PAH | c.1243G= (p.Asp415=) c.1228G= (p.Asp410=) n.905G= c.347G= n.758G= c.1186G= (p.Asp396=) | |
| 12 | g.102840472C>G | CA386493053 | PAH | c.1243G>C (p.Asp415His) c.1228G>C (p.Asp410His) n.905G>C c.347G>C n.758G>C c.1186G>C (p.Asp396His) | |
| 12 | g.102840472C>T | CA114364 | PAH | c.1243G>A (p.Asp415Asn) c.1228G>A (p.Asp410Asn) n.905G>A c.347G>A n.758G>A c.1186G>A (p.Asp396Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.102840473G>A | CA200893 | PAH | c.1242C>T (p.Tyr414=) c.1227C>T (p.Tyr409=) n.904C>T c.346C>T n.757C>T c.1185C>T (p.Tyr395=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102840473G>C | CA386493054 | PAH | c.1242C>G (p.Tyr414Ter) c.1227C>G (p.Tyr409Ter) n.904C>G c.346C>G n.757C>G c.1185C>G (p.Tyr395Ter) | gnomAD v4 |
| 12 | g.102840473G= | CA2059441798 | PAH | c.1242C= (p.Tyr414=) c.1227C= (p.Tyr409=) n.904C= c.346C= n.757C= c.1185C= (p.Tyr395=) | |
| 12 | g.102840473G>T | CA16020977 | PAH | c.1242C>A (p.Tyr414Ter) c.1227C>A (p.Tyr409Ter) n.904C>A c.346C>A n.757C>A c.1185C>A (p.Tyr395Ter) | ClinVar |
| 12 | g.102840474T>A | CA386493055 | PAH | c.1241A>T (p.Tyr414Phe) c.1226A>T (p.Tyr409Phe) n.903A>T c.345A>T n.756A>T c.1184A>T (p.Tyr395Phe) | |
| 12 | g.102840474T>C | CA114362 | PAH | c.1241A>G (p.Tyr414Cys) c.1226A>G (p.Tyr409Cys) n.903A>G c.345A>G n.756A>G c.1184A>G (p.Tyr395Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102840474T>G | CA386493056 | PAH | c.1241A>C (p.Tyr414Ser) c.1226A>C (p.Tyr409Ser) n.903A>C c.345A>C n.756A>C c.1184A>C (p.Tyr395Ser) | |
| 12 | g.102840474T= | CA2059441810 | PAH | c.1241A= (p.Tyr414=) c.1226A= (p.Tyr409=) n.903A= c.345A= n.756A= c.1184A= (p.Tyr395=) | |
| 12 | g.102840474_102840477delinsCAGG | CA2580616845 | PAH | c.1238_1241delinsCCTG (p.Arg413_Tyr414delinsProCys) c.1223_1226delinsCCTG (p.Arg408_Tyr409delinsProCys) n.900_903delinsCCTG c.342_345delinsCCTG n.753_756delinsCCTG c.1181_1184delinsCCTG (p.Arg394_Tyr395delinsProCys) | ClinVar |
| 12 | g.102840475A= | CA2059441817 | PAH | c.1240T= (p.Tyr414=) c.1225T= (p.Tyr409=) n.902T= c.344T= n.755T= c.1183T= (p.Tyr395=) | |
| 12 | g.102840475A>C | CA386493057 | PAH | c.1240T>G (p.Tyr414Asp) c.1225T>G (p.Tyr409Asp) n.902T>G c.344T>G n.755T>G c.1183T>G (p.Tyr395Asp) | |
| 12 | g.102840475A>G | CA267637 | PAH | c.1240T>C (p.Tyr414His) c.1225T>C (p.Tyr409His) n.902T>C c.344T>C n.755T>C c.1183T>C (p.Tyr395His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102840475A>T | CA386493058 | PAH | c.1240T>A (p.Tyr414Asn) c.1225T>A (p.Tyr409Asn) n.902T>A c.344T>A n.755T>A c.1183T>A (p.Tyr395Asn) | |
| 12 | g.102840476G>A | CA481375369 | PAH | c.1239C>T (p.Arg413=) c.1224C>T (p.Arg408=) n.901C>T c.343C>T n.754C>T c.1182C>T (p.Arg394=) | |
| 12 | g.102840476G>C | CA481375370 | PAH | c.1239C>G (p.Arg413=) c.1224C>G (p.Arg408=) n.901C>G c.343C>G n.754C>G c.1182C>G (p.Arg394=) | |
| 12 | g.102840476G>T | CA481375371 | PAH | c.1239C>A (p.Arg413=) c.1224C>A (p.Arg408=) n.901C>A c.343C>A n.754C>A c.1182C>A (p.Arg394=) | |
| 12 | g.102840477C>A | CA386493059 | PAH | c.1238G>T (p.Arg413Leu) c.1223G>T (p.Arg408Leu) n.900G>T c.342G>T n.753G>T c.1181G>T (p.Arg394Leu) | dbSNP gnomAD v4 |
| 12 | g.102840477C= | CA2059441827 | PAH | c.1238G= (p.Arg413=) c.1223G= (p.Arg408=) n.900G= c.342G= n.753G= c.1181G= (p.Arg394=) | |
| 12 | g.102840477C>G | CA229414 | PAH | c.1238G>C (p.Arg413Pro) c.1223G>C (p.Arg408Pro) n.900G>C c.342G>C n.753G>C c.1181G>C (p.Arg394Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102840477C>T | CA6748707 | PAH | c.1238G>A (p.Arg413His) c.1223G>A (p.Arg408His) n.900G>A c.342G>A n.753G>A c.1181G>A (p.Arg394His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.102840478G>A | CA229412 | PAH | c.1237C>T (p.Arg413Cys) c.1222C>T (p.Arg408Cys) n.899C>T c.341C>T n.752C>T c.1180C>T (p.Arg394Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.102840478G>C | CA16020976 | PAH | c.1237C>G (p.Arg413Gly) c.1222C>G (p.Arg408Gly) n.899C>G c.341C>G n.752C>G c.1180C>G (p.Arg394Gly) | ClinVar dbSNP |
| 12 | g.102840478G= | CA2059441846 | PAH | c.1237C= (p.Arg413=) c.1222C= (p.Arg408=) n.899C= c.341C= n.752C= c.1180C= (p.Arg394=) | |
| 12 | g.102840478G>T | CA229411 | PAH | c.1237C>A (p.Arg413Ser) c.1222C>A (p.Arg408Ser) n.899C>A c.341C>A n.752C>A c.1180C>A (p.Arg394Ser) | ClinVar dbSNP |
| 12 | g.102840479A>C | CA481375372 | PAH | c.1236T>G (p.Val412=) c.1221T>G (p.Val407=) n.898T>G c.340T>G n.751T>G c.1179T>G (p.Val393=) | |
| 12 | g.102840479A>G | CA481375374 | PAH | c.1236T>C (p.Val412=) c.1221T>C (p.Val407=) n.898T>C c.340T>C n.751T>C c.1179T>C (p.Val393=) | |
| 12 | g.102840479A>T | CA481375373 | PAH | c.1236T>A (p.Val412=) c.1221T>A (p.Val407=) n.898T>A c.340T>A n.751T>A c.1179T>A (p.Val393=) | |
| 12 | g.102840480A= | CA2059441865 | PAH | c.1235T= (p.Val412=) c.1220T= (p.Val407=) n.897T= c.339T= n.750T= c.1178T= (p.Val393=) | |
| 12 | g.102840480A>C | CA16020975 | PAH | c.1235T>G (p.Val412Gly) c.1220T>G (p.Val407Gly) n.897T>G c.339T>G n.750T>G c.1178T>G (p.Val393Gly) | ClinVar dbSNP |
| 12 | g.102840480A>G | CA386493060 | PAH | c.1235T>C (p.Val412Ala) c.1220T>C (p.Val407Ala) n.897T>C c.339T>C n.750T>C c.1178T>C (p.Val393Ala) | COSMIC |
| 12 | g.102840480A>T | CA386493061 | PAH | c.1235T>A (p.Val412Asp) c.1220T>A (p.Val407Asp) n.897T>A c.339T>A n.750T>A c.1178T>A (p.Val393Asp) | |
| 12 | g.102840481C>A | CA242743457 | PAH | c.1234G>T (p.Val412Phe) c.1219G>T (p.Val407Phe) n.896G>T c.338G>T n.749G>T c.1177G>T (p.Val393Phe) | dbSNP |
| 12 | g.102840481C= | CA2059441879 | PAH | c.1234G= (p.Val412=) c.1219G= (p.Val407=) n.896G= c.338G= n.749G= c.1177G= (p.Val393=) | |
| 12 | g.102840481C>G | CA386493062 | PAH | c.1234G>C (p.Val412Leu) c.1219G>C (p.Val407Leu) n.896G>C c.338G>C n.749G>C c.1177G>C (p.Val393Leu) | |
| 12 | g.102840481C>T | CA386493063 | PAH | c.1234G>A (p.Val412Ile) c.1219G>A (p.Val407Ile) n.896G>A c.338G>A n.749G>A c.1177G>A (p.Val393Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102840482T>A | CA481375375 | PAH | c.1233A>T (p.Ser411=) c.1218A>T (p.Ser406=) n.895A>T c.337A>T n.748A>T c.1176A>T (p.Ser392=) | |
| 12 | g.102840482T>C | CA481375376 | PAH | c.1233A>G (p.Ser411=) c.1218A>G (p.Ser406=) n.895A>G c.337A>G n.748A>G c.1176A>G (p.Ser392=) | |
| 12 | g.102840482T>G | CA481375377 | PAH | c.1233A>C (p.Ser411=) c.1218A>C (p.Ser406=) n.895A>C c.337A>C n.748A>C c.1176A>C (p.Ser392=) | |
| 12 | g.102840483G>A | CA386493064 | PAH | c.1232C>T (p.Ser411Leu) c.1217C>T (p.Ser406Leu) n.894C>T c.336C>T n.747C>T c.1175C>T (p.Ser392Leu) | |
| 12 | g.102840483G>C | CA16020974 | PAH | c.1232C>G (p.Ser411Ter) c.1217C>G (p.Ser406Ter) n.894C>G c.336C>G n.747C>G c.1175C>G (p.Ser392Ter) | ClinVar |
| 12 | g.102840483G= | CA2059441893 | PAH | c.1232C= (p.Ser411=) c.1217C= (p.Ser406=) n.894C= c.336C= n.747C= c.1175C= (p.Ser392=) | |
| 12 | g.102840483G>T | CA229409 | PAH | c.1232C>A (p.Ser411Ter) c.1217C>A (p.Ser406Ter) n.894C>A c.336C>A n.747C>A c.1175C>A (p.Ser392Ter) | ClinVar dbSNP |
| 12 | g.102840484A>C | CA386493065 | PAH | c.1231T>G (p.Ser411Ala) c.1216T>G (p.Ser406Ala) n.893T>G c.335T>G n.746T>G c.1174T>G (p.Ser392Ala) | |
| 12 | g.102840484A>G | CA386493066 | PAH | c.1231T>C (p.Ser411Pro) c.1216T>C (p.Ser406Pro) n.893T>C c.335T>C n.746T>C c.1174T>C (p.Ser392Pro) | |
| 12 | g.102840484A>T | CA386493067 | PAH | c.1231T>A (p.Ser411Thr) c.1216T>A (p.Ser406Thr) n.893T>A c.335T>A n.746T>A c.1174T>A (p.Ser392Thr) | |
| 12 | g.102840485G>A | CA481375378 | PAH | c.1230C>T (p.Phe410=) c.1215C>T (p.Phe405=) n.892C>T c.334C>T n.745C>T c.1173C>T (p.Phe391=) | |
| 12 | g.102840485G>C | CA386493068 | PAH | c.1230C>G (p.Phe410Leu) c.1215C>G (p.Phe405Leu) n.892C>G c.334C>G n.745C>G c.1173C>G (p.Phe391Leu) | |
| 12 | g.102840485G>T | CA386493069 | PAH | c.1230C>A (p.Phe410Leu) c.1215C>A (p.Phe405Leu) n.892C>A c.334C>A n.745C>A c.1173C>A (p.Phe391Leu) | |
| 12 | g.102840486A= | CA2059441912 | PAH | c.1229T= (p.Phe410=) c.1214T= (p.Phe405=) n.891T= c.333T= n.744T= c.1172T= (p.Phe391=) | |
| 12 | g.102840486A>C | CA229406 | PAH | c.1229T>G (p.Phe410Cys) c.1214T>G (p.Phe405Cys) n.891T>G c.333T>G n.744T>G c.1172T>G (p.Phe391Cys) | ClinVar dbSNP |
| 12 | g.102840486A>G | CA229405 | PAH | c.1229T>C (p.Phe410Ser) c.1214T>C (p.Phe405Ser) n.891T>C c.333T>C n.744T>C c.1172T>C (p.Phe391Ser) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102840486A>T | CA386493070 | PAH | c.1229T>A (p.Phe410Tyr) c.1214T>A (p.Phe405Tyr) n.891T>A c.333T>A n.744T>A c.1172T>A (p.Phe391Tyr) | |
| 12 | g.102840487A= | CA2059441923 | PAH | c.1228T= (p.Phe410=) c.1213T= (p.Phe405=) n.890T= c.332T= n.743T= c.1171T= (p.Phe391=) | |
| 12 | g.102840487A>C | CA386493071 | PAH | c.1228T>G (p.Phe410Val) c.1213T>G (p.Phe405Val) n.890T>G c.332T>G n.743T>G c.1171T>G (p.Phe391Val) | |
| 12 | g.102840487A>G | CA386493072 | PAH | c.1228T>C (p.Phe410Leu) c.1213T>C (p.Phe405Leu) n.890T>C c.332T>C n.743T>C c.1171T>C (p.Phe391Leu) | |
| 12 | g.102840487A>T | CA16020973 | PAH | c.1228T>A (p.Phe410Ile) c.1213T>A (p.Phe405Ile) n.890T>A c.332T>A n.743T>A c.1171T>A (p.Phe391Ile) | ClinVar dbSNP COSMIC |
| 12 | g.102840488G>A | CA481375379 | PAH | c.1227C>T (p.Pro409=) c.1212C>T (p.Pro404=) n.889C>T c.331C>T n.742C>T c.1170C>T (p.Pro390=) | |
| 12 | g.102840488G>C | CA481375380 | PAH | c.1227C>G (p.Pro409=) c.1212C>G (p.Pro404=) n.889C>G c.331C>G n.742C>G c.1170C>G (p.Pro390=) | |
| 12 | g.102840488G>T | CA481375381 | PAH | c.1227C>A (p.Pro409=) c.1212C>A (p.Pro404=) n.889C>A c.331C>A n.742C>A c.1170C>A (p.Pro390=) | |
| 12 | g.102840489G>A | CA386493073 | PAH | c.1226C>T (p.Pro409Leu) c.1211C>T (p.Pro404Leu) n.888C>T c.330C>T n.741C>T c.1169C>T (p.Pro390Leu) | gnomAD v4 |
| 12 | g.102840489G>C | CA386493075 | PAH | c.1226C>G (p.Pro409Arg) c.1211C>G (p.Pro404Arg) n.888C>G c.330C>G n.741C>G c.1169C>G (p.Pro390Arg) | gnomAD v4 |
| 12 | g.102840489G>T | CA386493074 | PAH | c.1226C>A (p.Pro409His) c.1211C>A (p.Pro404His) n.888C>A c.330C>A n.741C>A c.1169C>A (p.Pro390His) | COSMIC |
| 12 | g.102840490G>A | CA386493076 | PAH | c.1225C>T (p.Pro409Ser) c.1210C>T (p.Pro404Ser) n.887C>T c.329C>T n.740C>T c.1168C>T (p.Pro390Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102840490G>C | CA386493077 | PAH | c.1225C>G (p.Pro409Ala) c.1210C>G (p.Pro404Ala) n.887C>G c.329C>G n.740C>G c.1168C>G (p.Pro390Ala) | |
| 12 | g.102840490G= | CA2059441932 | PAH | c.1225C= (p.Pro409=) c.1210C= (p.Pro404=) n.887C= c.329C= n.740C= c.1168C= (p.Pro390=) | |
| 12 | g.102840490G>T | CA386493078 | PAH | c.1225C>A (p.Pro409Thr) c.1210C>A (p.Pro404Thr) n.887C>A c.329C>A n.740C>A c.1168C>A (p.Pro390Thr) | COSMIC |
| 12 | g.102840491C>A | CA481375382 | PAH | c.1224G>T (p.Arg408=) c.1209G>T (p.Arg403=) n.886G>T c.328G>T n.739G>T c.1167G>T (p.Arg389=) | |
| 12 | g.102840491C>G | CA481375384 | PAH | c.1224G>C (p.Arg408=) c.1209G>C (p.Arg403=) n.886G>C c.328G>C n.739G>C c.1167G>C (p.Arg389=) | |
| 12 | g.102840491C>T | CA481375383 | PAH | c.1224G>A (p.Arg408=) c.1209G>A (p.Arg403=) n.886G>A c.328G>A n.739G>A c.1167G>A (p.Arg389=) | |
| 12 | g.102840492C>A | CA386493079 | PAH | c.1223G>T (p.Arg408Leu) c.1208G>T (p.Arg403Leu) n.885G>T c.327G>T n.738G>T c.1166G>T (p.Arg389Leu) | COSMIC |
| 12 | g.102840492C= | CA2059441935 | PAH | c.1223G= (p.Arg408=) c.1208G= (p.Arg403=) n.885G= c.327G= n.738G= c.1166G= (p.Arg389=) | |
| 12 | g.102840492C>G | CA386493080 | PAH | c.1223G>C (p.Arg408Pro) c.1208G>C (p.Arg403Pro) n.885G>C c.327G>C n.738G>C c.1166G>C (p.Arg389Pro) | |
| 12 | g.102840492C>T | CA229404 | PAH | c.1223G>A (p.Arg408Gln) c.1208G>A (p.Arg403Gln) n.885G>A c.327G>A n.738G>A c.1166G>A (p.Arg389Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102840493del | CA16020972 | PAH | c.1222del (p.Arg408GlyfsTer?) c.1207del (p.Arg403GlyfsTer?) n.884del c.326del n.737del c.1165del (p.Arg389GlyfsTer?) | |
| 12 | g.102840493G>A | CA251523 | PAH | c.1222C>T (p.Arg408Trp) c.1207C>T (p.Arg403Trp) n.884C>T c.326C>T n.737C>T c.1165C>T (p.Arg389Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102840493G>C | CA386493081 | PAH | c.1222C>G (p.Arg408Gly) c.1207C>G (p.Arg403Gly) n.884C>G c.326C>G n.737C>G c.1165C>G (p.Arg389Gly) | |
| 12 | g.102840493G= | CA2059441944 | PAH | c.1222C= (p.Arg408=) c.1207C= (p.Arg403=) n.884C= c.326C= n.737C= c.1165C= (p.Arg389=) | |
| 12 | g.102840493G>T | CA481375385 | PAH | c.1222C>A (p.Arg408=) c.1207C>A (p.Arg403=) n.884C>A c.326C>A n.737C>A c.1165C>A (p.Arg389=) | |
| 12 | g.102840494A>C | CA481375386 | PAH | c.1221T>G (p.Pro407=) c.1206T>G (p.Pro402=) n.883T>G c.325T>G n.736T>G c.1164T>G (p.Pro388=) | ClinVar |
| 12 | g.102840494A>G | CA481375387 | PAH | c.1221T>C (p.Pro407=) c.1206T>C (p.Pro402=) n.883T>C c.325T>C n.736T>C c.1164T>C (p.Pro388=) | gnomAD v4 |
| 12 | g.102840494A>T | CA481375388 | PAH | c.1221T>A (p.Pro407=) c.1206T>A (p.Pro402=) n.883T>A c.325T>A n.736T>A c.1164T>A (p.Pro388=) | gnomAD v4 |
| 12 | g.102840494_102840495delinsAG | CA2059441948 | PAH | c.1220_1221delinsCT (p.Pro407=) c.1205_1206delinsCT (p.Pro402=) n.882_883delinsCT c.324_325delinsCT n.735_736delinsCT c.1163_1164delinsCT (p.Pro388=) | |
| 12 | g.102840495G>A | CA229402 | PAH | c.1220C>T (p.Pro407Leu) c.1205C>T (p.Pro402Leu) n.882C>T c.324C>T n.735C>T c.1163C>T (p.Pro388Leu) | ClinVar dbSNP |
| 12 | g.102840495G>C | CA386493082 | PAH | c.1220C>G (p.Pro407Arg) c.1205C>G (p.Pro402Arg) n.882C>G c.324C>G n.735C>G c.1163C>G (p.Pro388Arg) | |
| 12 | g.102840495G= | CA2059441966 | PAH | c.1220C= (p.Pro407=) c.1205C= (p.Pro402=) n.882C= c.324C= n.735C= c.1163C= (p.Pro388=) | |
| 12 | g.102840495G>T | CA386493083 | PAH | c.1220C>A (p.Pro407His) c.1205C>A (p.Pro402His) n.882C>A c.324C>A n.735C>A c.1163C>A (p.Pro388His) | |
| 12 | g.102840496del | CA229403 | PAH | c.1220del (p.Pro407LeufsTer?) c.1205del (p.Pro402LeufsTer?) n.882del c.324del n.735del c.1163del (p.Pro388LeufsTer?) | ClinVar dbSNP |
| 12 | g.102840495_102840499del | CA2695217221 | PAH | c.1216_1220del (p.Ile406SerfsTer15) c.1201_1205del (p.Ile401SerfsTer15) n.878_882del c.320_324del n.731_735del c.1159_1163del (p.Ile387SerfsTer15) | |
| 12 | g.102840495_102840500delinsGGTATT | CA2059441961 | PAH | c.1215_1220delinsAATACC (p.Thr405=) c.1200_1205delinsAATACC (p.Thr400=) n.877_882delinsAATACC c.319_324delinsAATACC n.730_735delinsAATACC c.1158_1163delinsAATACC (p.Thr386=) | |
| 12 | g.102840496G>A | CA229400 | PAH | c.1219C>T (p.Pro407Ser) c.1204C>T (p.Pro402Ser) n.881C>T c.323C>T n.734C>T c.1162C>T (p.Pro388Ser) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102840496G>C | CA386493084 | PAH | c.1219C>G (p.Pro407Ala) c.1204C>G (p.Pro402Ala) n.881C>G c.323C>G n.734C>G c.1162C>G (p.Pro388Ala) | |
| 12 | g.102840496G= | CA2059441978 | PAH | c.1219C= (p.Pro407=) c.1204C= (p.Pro402=) n.881C= c.323C= n.734C= c.1162C= (p.Pro388=) | |
| 12 | g.102840496G>T | CA386493085 | PAH | c.1219C>A (p.Pro407Thr) c.1204C>A (p.Pro402Thr) n.881C>A c.323C>A n.734C>A c.1162C>A (p.Pro388Thr) | |
| 12 | g.102840498_102840502del | CA16020971 | PAH | c.1215_1219del (p.Ile406SerfsTer15) c.1200_1204del (p.Ile401SerfsTer15) n.877_881del c.319_323del n.730_734del c.1158_1162del (p.Ile387SerfsTer15) | ClinVar dbSNP |
| 12 | g.102840497T>A | CA481375389 | PAH | c.1218A>T (p.Ile406=) c.1203A>T (p.Ile401=) n.880A>T c.322A>T n.733A>T c.1161A>T (p.Ile387=) | |
| 12 | g.102840497T>C | CA6748708 | PAH | c.1218A>G (p.Ile406Met) c.1203A>G (p.Ile401Met) n.880A>G c.322A>G n.733A>G c.1161A>G (p.Ile387Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102840497T>G | CA481375390 | PAH | c.1218A>C (p.Ile406=) c.1203A>C (p.Ile401=) n.880A>C c.322A>C n.733A>C c.1161A>C (p.Ile387=) | |
| 12 | g.102840497T= | CA2059441989 | PAH | c.1218A= (p.Ile406=) c.1203A= (p.Ile401=) n.880A= c.322A= n.733A= c.1161A= (p.Ile387=) | |
| 12 | g.102840498A= | CA2059442004 | PAH | c.1217T= (p.Ile406=) c.1202T= (p.Ile401=) n.879T= c.321T= n.732T= c.1160T= (p.Ile387=) | |
| 12 | g.102840498A>C | CA386493086 | PAH | c.1217T>G (p.Ile406Arg) c.1202T>G (p.Ile401Arg) n.879T>G c.321T>G n.732T>G c.1160T>G (p.Ile387Arg) | |
| 12 | g.102840498A>G | CA229398 | PAH | c.1217T>C (p.Ile406Thr) c.1202T>C (p.Ile401Thr) n.879T>C c.321T>C n.732T>C c.1160T>C (p.Ile387Thr) | ClinVar dbSNP |
| 12 | g.102840498A>T | CA386493087 | PAH | c.1217T>A (p.Ile406Lys) c.1202T>A (p.Ile401Lys) n.879T>A c.321T>A n.732T>A c.1160T>A (p.Ile387Lys) | |
| 12 | g.102840499T>A | CA386493088 | PAH | c.1216A>T (p.Ile406Leu) c.1201A>T (p.Ile401Leu) n.878A>T c.320A>T n.731A>T c.1159A>T (p.Ile387Leu) | |
| 12 | g.102840499T>C | CA6748709 | PAH | c.1216A>G (p.Ile406Val) c.1201A>G (p.Ile401Val) n.878A>G c.320A>G n.731A>G c.1159A>G (p.Ile387Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102840499T>G | CA386493089 | PAH | c.1216A>C (p.Ile406Leu) c.1201A>C (p.Ile401Leu) n.878A>C c.320A>C n.731A>C c.1159A>C (p.Ile387Leu) | |
| 12 | g.102840499T= | CA2059442033 | PAH | c.1216A= (p.Ile406=) c.1201A= (p.Ile401=) n.878A= c.320A= n.731A= c.1159A= (p.Ile387=) | |
| 12 | g.102840500dup | CA2797242739 | PAH | c.1216dup (p.Ile406AsnfsTer17) c.1201dup (p.Ile401AsnfsTer17) n.878dup c.320dup n.731dup c.1159dup (p.Ile387AsnfsTer17) | |
| 12 | g.102840500T>A | CA481375392 | PAH | c.1215A>T (p.Thr405=) c.1200A>T (p.Thr400=) n.877A>T c.319A>T n.730A>T c.1158A>T (p.Thr386=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102840500T>C | CA6748710 | PAH | c.1215A>G (p.Thr405=) c.1200A>G (p.Thr400=) n.877A>G c.319A>G n.730A>G c.1158A>G (p.Thr386=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102840500T>G | CA481375391 | PAH | c.1215A>C (p.Thr405=) c.1200A>C (p.Thr400=) n.877A>C c.319A>C n.730A>C c.1158A>C (p.Thr386=) | |
| 12 | g.102840500T= | CA2059442037 | PAH | c.1215A= (p.Thr405=) c.1200A= (p.Thr400=) n.877A= c.319A= n.730A= c.1158A= (p.Thr386=) | |
| 12 | g.102840501G>A | CA386493090 | PAH | c.1214C>T (p.Thr405Ile) c.1199C>T (p.Thr400Ile) n.876C>T c.318C>T n.729C>T c.1157C>T (p.Thr386Ile) | |
| 12 | g.102840501G>C | CA386493091 | PAH | c.1214C>G (p.Thr405Arg) c.1199C>G (p.Thr400Arg) n.876C>G c.318C>G n.729C>G c.1157C>G (p.Thr386Arg) | |
| 12 | g.102840501G>T | CA386493092 | PAH | c.1214C>A (p.Thr405Lys) c.1199C>A (p.Thr400Lys) n.876C>A c.318C>A n.729C>A c.1157C>A (p.Thr386Lys) | |
| 12 | g.102840502T>A | CA386493095 | PAH | c.1213A>T (p.Thr405Ser) c.1198A>T (p.Thr400Ser) n.875A>T c.317A>T n.728A>T c.1156A>T (p.Thr386Ser) | |
| 12 | g.102840502T>C | CA386493094 | PAH | c.1213A>G (p.Thr405Ala) c.1198A>G (p.Thr400Ala) n.875A>G c.317A>G n.728A>G c.1156A>G (p.Thr386Ala) | |
| 12 | g.102840502T>G | CA386493093 | PAH | c.1213A>C (p.Thr405Pro) c.1198A>C (p.Thr400Pro) n.875A>C c.317A>C n.728A>C c.1156A>C (p.Thr386Pro) | |
| 12 | g.102840503G>A | CA481375393 | PAH | c.1212C>T (p.Ala404=) c.1197C>T (p.Ala399=) n.874C>T c.316C>T n.727C>T c.1155C>T (p.Ala385=) | |
| 12 | g.102840503G>C | CA481375394 | PAH | c.1212C>G (p.Ala404=) c.1197C>G (p.Ala399=) n.874C>G c.316C>G n.727C>G c.1155C>G (p.Ala385=) | |
| 12 | g.102840503G>T | CA481375395 | PAH | c.1212C>A (p.Ala404=) c.1197C>A (p.Ala399=) n.874C>A c.316C>A n.727C>A c.1155C>A (p.Ala385=) | |
| 12 | g.102840504G>A | CA386493096 | PAH | c.1211C>T (p.Ala404Val) c.1196C>T (p.Ala399Val) n.873C>T c.315C>T n.726C>T c.1154C>T (p.Ala385Val) | gnomAD v4 |
| 12 | g.102840504G>C | CA386493098 | PAH | c.1211C>G (p.Ala404Gly) c.1196C>G (p.Ala399Gly) n.873C>G c.315C>G n.726C>G c.1154C>G (p.Ala385Gly) | |
| 12 | g.102840504G>T | CA386493097 | PAH | c.1211C>A (p.Ala404Asp) c.1196C>A (p.Ala399Asp) n.873C>A c.315C>A n.726C>A c.1154C>A (p.Ala385Asp) | |
| 12 | g.102840505C>A | CA386493099 | PAH | c.1210G>T (p.Ala404Ser) c.1195G>T (p.Ala399Ser) n.872G>T c.314G>T n.725G>T c.1153G>T (p.Ala385Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102840505C= | CA2059442043 | PAH | c.1210G= (p.Ala404=) c.1195G= (p.Ala399=) n.872G= c.314G= n.725G= c.1153G= (p.Ala385=) | |
| 12 | g.102840505C>G | CA10605090 | PAH | c.1210G>C (p.Ala404Pro) c.1195G>C (p.Ala399Pro) n.872G>C c.314G>C n.725G>C c.1153G>C (p.Ala385Pro) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102840505C>T | CA386493100 | PAH | c.1210G>A (p.Ala404Thr) c.1195G>A (p.Ala399Thr) n.872G>A c.314G>A n.725G>A c.1153G>A (p.Ala385Thr) | |
| 12 | g.102840505_102840506del | CA912973340 | PAH | c.1209_1210del (p.Ala404HisfsTer18) c.1194_1195del (p.Ala399HisfsTer18) n.871_872del c.313_314del n.724_725del c.1152_1153del (p.Ala385HisfsTer18) | |
| 12 | g.102840505_102840506delinsCA | CA2059442050 | PAH | c.1209_1210delinsTG (p.Ala403=) c.1194_1195delinsTG (p.Ala398=) n.871_872delinsTG c.313_314delinsTG n.724_725delinsTG c.1152_1153delinsTG (p.Ala384=) | |
| 12 | g.102840506del | CA658821440 | PAH | c.1209del (p.Ala404ProfsTer?) c.1194del (p.Ala399ProfsTer?) n.871del c.313del n.724del c.1152del (p.Ala385ProfsTer?) | ClinVar dbSNP |
| 12 | g.102840506A>C | CA481375396 | PAH | c.1209T>G (p.Ala403=) c.1194T>G (p.Ala398=) n.871T>G c.313T>G n.724T>G c.1152T>G (p.Ala384=) | |
| 12 | g.102840506A>G | CA481375397 | PAH | c.1209T>C (p.Ala403=) c.1194T>C (p.Ala398=) n.871T>C c.313T>C n.724T>C c.1152T>C (p.Ala384=) | |
| 12 | g.102840506A>T | CA481375398 | PAH | c.1209T>A (p.Ala403=) c.1194T>A (p.Ala398=) n.871T>A c.313T>A n.724T>A c.1152T>A (p.Ala384=) | |
| 12 | g.102840507G>A | CA273106 | PAH | c.1208C>T (p.Ala403Val) c.1193C>T (p.Ala398Val) n.870C>T c.312C>T n.723C>T c.1151C>T (p.Ala384Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102840507G>C | CA386493102 | PAH | c.1208C>G (p.Ala403Gly) c.1193C>G (p.Ala398Gly) n.870C>G c.312C>G n.723C>G c.1151C>G (p.Ala384Gly) | |
| 12 | g.102840507G= | CA2059442069 | PAH | c.1208C= (p.Ala403=) c.1193C= (p.Ala398=) n.870C= c.312C= n.723C= c.1151C= (p.Ala384=) | |
| 12 | g.102840507G>T | CA386493101 | PAH | c.1208C>A (p.Ala403Asp) c.1193C>A (p.Ala398Asp) n.870C>A c.312C>A n.723C>A c.1151C>A (p.Ala384Asp) | |
| 12 | g.102840508C>A | CA386493103 | PAH | c.1207G>T (p.Ala403Ser) c.1192G>T (p.Ala398Ser) n.869G>T c.311G>T n.722G>T c.1150G>T (p.Ala384Ser) | gnomAD v4 |
| 12 | g.102840508C= | CA2059442076 | PAH | c.1207G= (p.Ala403=) c.1192G= (p.Ala398=) n.869G= c.311G= n.722G= c.1150G= (p.Ala384=) | |
| 12 | g.102840508C>G | CA386493104 | PAH | c.1207G>C (p.Ala403Pro) c.1192G>C (p.Ala398Pro) n.869G>C c.311G>C n.722G>C c.1150G>C (p.Ala384Pro) | dbSNP |
| 12 | g.102840508C>T | CA386493105 | PAH | c.1207G>A (p.Ala403Thr) c.1192G>A (p.Ala398Thr) n.869G>A c.311G>A n.722G>A c.1150G>A (p.Ala384Thr) |