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.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) |