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