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 |
|---|---|---|---|---|---|
| 7 | g.128394475G>A | CA4470759 | IMPDH1 | c.1567C>T (p.Arg523Cys) n.1550C>T c.1675C>T (p.Arg559Cys) c.1307C>T c.1645C>T (p.Arg549Cys) c.1576C>T (p.Arg526Cys) n.565C>T c.1440C>T c.1417C>T (p.Arg473Cys) c.1405C>T (p.Arg469Cys) c.1550C>T (n.1550C>T) c.1345C>T (p.Arg449Cys) c.1420C>T (p.Arg474Cys) c.1468C>T (p.Arg490Cys) c.1444C>T (p.Arg482Cys) c.1057C>T (p.Arg353Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.128394475G>C | CA369162016 | IMPDH1 | c.1567C>G (p.Arg523Gly) n.1550C>G c.1675C>G (p.Arg559Gly) c.1307C>G c.1645C>G (p.Arg549Gly) c.1576C>G (p.Arg526Gly) n.565C>G c.1440C>G c.1417C>G (p.Arg473Gly) c.1405C>G (p.Arg469Gly) c.1550C>G (n.1550C>G) c.1345C>G (p.Arg449Gly) c.1420C>G (p.Arg474Gly) c.1468C>G (p.Arg490Gly) c.1444C>G (p.Arg482Gly) c.1057C>G (p.Arg353Gly) | dbSNP gnomAD v4 |
| 7 | g.128394475G= | CA1742358232 | IMPDH1 | c.1567C= (p.Arg523=) n.1550C= c.1675C= (p.Arg559=) c.1307C= c.1645C= (p.Arg549=) c.1576C= (p.Arg526=) n.565C= c.1440C= c.1417C= (p.Arg473=) c.1405C= (p.Arg469=) c.1550C= (n.1550C=) c.1345C= (p.Arg449=) c.1420C= (p.Arg474=) c.1468C= (p.Arg490=) c.1444C= (p.Arg482=) c.1057C= (p.Arg353=) | |
| 7 | g.128394475G>T | CA369162017 | IMPDH1 | c.1567C>A (p.Arg523Ser) n.1550C>A c.1675C>A (p.Arg559Ser) c.1307C>A c.1645C>A (p.Arg549Ser) c.1576C>A (p.Arg526Ser) n.565C>A c.1440C>A c.1417C>A (p.Arg473Ser) c.1405C>A (p.Arg469Ser) c.1550C>A (n.1550C>A) c.1345C>A (p.Arg449Ser) c.1420C>A (p.Arg474Ser) c.1468C>A (p.Arg490Ser) c.1444C>A (p.Arg482Ser) c.1057C>A (p.Arg353Ser) | |
| 7 | g.128394476G>A | CA457527551 | IMPDH1 | c.1566C>T (p.Ala522=) n.1549C>T c.1674C>T (p.Ala558=) c.1306C>T c.1644C>T (p.Ala548=) c.1575C>T (p.Ala525=) n.564C>T c.1439C>T c.1416C>T (p.Ala472=) c.1404C>T (p.Ala468=) c.1549C>T (n.1549C>T) c.1344C>T (p.Ala448=) c.1419C>T (p.Ala473=) c.1467C>T (p.Ala489=) c.1443C>T (p.Ala481=) c.1056C>T (p.Ala352=) | |
| 7 | g.128394476G>C | CA457527553 | IMPDH1 | c.1566C>G (p.Ala522=) n.1549C>G c.1674C>G (p.Ala558=) c.1306C>G c.1644C>G (p.Ala548=) c.1575C>G (p.Ala525=) n.564C>G c.1439C>G c.1416C>G (p.Ala472=) c.1404C>G (p.Ala468=) c.1549C>G (n.1549C>G) c.1344C>G (p.Ala448=) c.1419C>G (p.Ala473=) c.1467C>G (p.Ala489=) c.1443C>G (p.Ala481=) c.1056C>G (p.Ala352=) | |
| 7 | g.128394476G>T | CA457527552 | IMPDH1 | c.1566C>A (p.Ala522=) n.1549C>A c.1674C>A (p.Ala558=) c.1306C>A c.1644C>A (p.Ala548=) c.1575C>A (p.Ala525=) n.564C>A c.1439C>A c.1416C>A (p.Ala472=) c.1404C>A (p.Ala468=) c.1549C>A (n.1549C>A) c.1344C>A (p.Ala448=) c.1419C>A (p.Ala473=) c.1467C>A (p.Ala489=) c.1443C>A (p.Ala481=) c.1056C>A (p.Ala352=) | COSMIC |
| 7 | g.128394477G>A | CA369162018 | IMPDH1 | c.1565C>T (p.Ala522Val) n.1548C>T c.1673C>T (p.Ala558Val) c.1305C>T c.1643C>T (p.Ala548Val) c.1574C>T (p.Ala525Val) n.563C>T c.1438C>T c.1415C>T (p.Ala472Val) c.1403C>T (p.Ala468Val) c.1548C>T (n.1548C>T) c.1343C>T (p.Ala448Val) c.1418C>T (p.Ala473Val) c.1466C>T (p.Ala489Val) c.1442C>T (p.Ala481Val) c.1055C>T (p.Ala352Val) | gnomAD v4 |
| 7 | g.128394477G>C | CA369162019 | IMPDH1 | c.1565C>G (p.Ala522Gly) n.1548C>G c.1673C>G (p.Ala558Gly) c.1305C>G c.1643C>G (p.Ala548Gly) c.1574C>G (p.Ala525Gly) n.563C>G c.1438C>G c.1415C>G (p.Ala472Gly) c.1403C>G (p.Ala468Gly) c.1548C>G (n.1548C>G) c.1343C>G (p.Ala448Gly) c.1418C>G (p.Ala473Gly) c.1466C>G (p.Ala489Gly) c.1442C>G (p.Ala481Gly) c.1055C>G (p.Ala352Gly) | |
| 7 | g.128394477G>T | CA369162020 | IMPDH1 | c.1565C>A (p.Ala522Asp) n.1548C>A c.1673C>A (p.Ala558Asp) c.1305C>A c.1643C>A (p.Ala548Asp) c.1574C>A (p.Ala525Asp) n.563C>A c.1438C>A c.1415C>A (p.Ala472Asp) c.1403C>A (p.Ala468Asp) c.1548C>A (n.1548C>A) c.1343C>A (p.Ala448Asp) c.1418C>A (p.Ala473Asp) c.1466C>A (p.Ala489Asp) c.1442C>A (p.Ala481Asp) c.1055C>A (p.Ala352Asp) | |
| 7 | g.128394478C>A | CA369162021 | IMPDH1 | c.1564G>T (p.Ala522Ser) n.1547G>T c.1672G>T (p.Ala558Ser) c.1304G>T c.1642G>T (p.Ala548Ser) c.1573G>T (p.Ala525Ser) n.562G>T c.1437G>T c.1414G>T (p.Ala472Ser) c.1402G>T (p.Ala468Ser) c.1547G>T (n.1547G>T) c.1342G>T (p.Ala448Ser) c.1417G>T (p.Ala473Ser) c.1465G>T (p.Ala489Ser) c.1441G>T (p.Ala481Ser) c.1054G>T (p.Ala352Ser) | |
| 7 | g.128394478C>G | CA369162022 | IMPDH1 | c.1564G>C (p.Ala522Pro) n.1547G>C c.1672G>C (p.Ala558Pro) c.1304G>C c.1642G>C (p.Ala548Pro) c.1573G>C (p.Ala525Pro) n.562G>C c.1437G>C c.1414G>C (p.Ala472Pro) c.1402G>C (p.Ala468Pro) c.1547G>C (n.1547G>C) c.1342G>C (p.Ala448Pro) c.1417G>C (p.Ala473Pro) c.1465G>C (p.Ala489Pro) c.1441G>C (p.Ala481Pro) c.1054G>C (p.Ala352Pro) | |
| 7 | g.128394478C>T | CA369162023 | IMPDH1 | c.1564G>A (p.Ala522Thr) n.1547G>A c.1672G>A (p.Ala558Thr) c.1304G>A c.1642G>A (p.Ala548Thr) c.1573G>A (p.Ala525Thr) n.562G>A c.1437G>A c.1414G>A (p.Ala472Thr) c.1402G>A (p.Ala468Thr) c.1547G>A (n.1547G>A) c.1342G>A (p.Ala448Thr) c.1417G>A (p.Ala473Thr) c.1465G>A (p.Ala489Thr) c.1441G>A (p.Ala481Thr) c.1054G>A (p.Ala352Thr) | |
| 7 | g.128394479C>A | CA457527554 | IMPDH1 | c.1563G>T (p.Gly521=) n.1546G>T c.1671G>T (p.Gly557=) c.1303G>T c.1641G>T (p.Gly547=) c.1572G>T (p.Gly524=) n.561G>T c.1436G>T c.1413G>T (p.Gly471=) c.1401G>T (p.Gly467=) c.1546G>T (n.1546G>T) c.1341G>T (p.Gly447=) c.1416G>T (p.Gly472=) c.1464G>T (p.Gly488=) c.1440G>T (p.Gly480=) c.1053G>T (p.Gly351=) | |
| 7 | g.128394479C>G | CA457527555 | IMPDH1 | c.1563G>C (p.Gly521=) n.1546G>C c.1671G>C (p.Gly557=) c.1303G>C c.1641G>C (p.Gly547=) c.1572G>C (p.Gly524=) n.561G>C c.1436G>C c.1413G>C (p.Gly471=) c.1401G>C (p.Gly467=) c.1546G>C (n.1546G>C) c.1341G>C (p.Gly447=) c.1416G>C (p.Gly472=) c.1464G>C (p.Gly488=) c.1440G>C (p.Gly480=) c.1053G>C (p.Gly351=) | |
| 7 | g.128394479C>T | CA457527556 | IMPDH1 | c.1563G>A (p.Gly521=) n.1546G>A c.1671G>A (p.Gly557=) c.1303G>A c.1641G>A (p.Gly547=) c.1572G>A (p.Gly524=) n.561G>A c.1436G>A c.1413G>A (p.Gly471=) c.1401G>A (p.Gly467=) c.1546G>A (n.1546G>A) c.1341G>A (p.Gly447=) c.1416G>A (p.Gly472=) c.1464G>A (p.Gly488=) c.1440G>A (p.Gly480=) c.1053G>A (p.Gly351=) | |
| 7 | g.128394480C>A | CA369162024 | IMPDH1 | c.1562G>T (p.Gly521Val) n.1545G>T c.1670G>T (p.Gly557Val) c.1302G>T c.1640G>T (p.Gly547Val) c.1571G>T (p.Gly524Val) n.560G>T c.1435G>T c.1412G>T (p.Gly471Val) c.1400G>T (p.Gly467Val) c.1545G>T (n.1545G>T) c.1340G>T (p.Gly447Val) c.1415G>T (p.Gly472Val) c.1463G>T (p.Gly488Val) c.1439G>T (p.Gly480Val) c.1052G>T (p.Gly351Val) | |
| 7 | g.128394480C>G | CA369162025 | IMPDH1 | c.1562G>C (p.Gly521Ala) n.1545G>C c.1670G>C (p.Gly557Ala) c.1302G>C c.1640G>C (p.Gly547Ala) c.1571G>C (p.Gly524Ala) n.560G>C c.1435G>C c.1412G>C (p.Gly471Ala) c.1400G>C (p.Gly467Ala) c.1545G>C (n.1545G>C) c.1340G>C (p.Gly447Ala) c.1415G>C (p.Gly472Ala) c.1463G>C (p.Gly488Ala) c.1439G>C (p.Gly480Ala) c.1052G>C (p.Gly351Ala) | |
| 7 | g.128394480C>T | CA369162026 | IMPDH1 | c.1562G>A (p.Gly521Glu) n.1545G>A c.1670G>A (p.Gly557Glu) c.1302G>A c.1640G>A (p.Gly547Glu) c.1571G>A (p.Gly524Glu) n.560G>A c.1435G>A c.1412G>A (p.Gly471Glu) c.1400G>A (p.Gly467Glu) c.1545G>A (n.1545G>A) c.1340G>A (p.Gly447Glu) c.1415G>A (p.Gly472Glu) c.1463G>A (p.Gly488Glu) c.1439G>A (p.Gly480Glu) c.1052G>A (p.Gly351Glu) | |
| 7 | g.128394481C>A | CA369162027 | IMPDH1 | c.1561G>T (p.Gly521Trp) n.1544G>T c.1669G>T (p.Gly557Trp) c.1301G>T c.1639G>T (p.Gly547Trp) c.1570G>T (p.Gly524Trp) n.559G>T c.1434G>T c.1411G>T (p.Gly471Trp) c.1399G>T (p.Gly467Trp) c.1544G>T (n.1544G>T) c.1339G>T (p.Gly447Trp) c.1414G>T (p.Gly472Trp) c.1462G>T (p.Gly488Trp) c.1438G>T (p.Gly480Trp) c.1051G>T (p.Gly351Trp) | |
| 7 | g.128394481C= | CA1742358237 | IMPDH1 | c.1561G= (p.Gly521=) n.1544G= c.1669G= (p.Gly557=) c.1301G= c.1639G= (p.Gly547=) c.1570G= (p.Gly524=) n.559G= c.1434G= c.1411G= (p.Gly471=) c.1399G= (p.Gly467=) c.1544G= (n.1544G=) c.1339G= (p.Gly447=) c.1414G= (p.Gly472=) c.1462G= (p.Gly488=) c.1438G= (p.Gly480=) c.1051G= (p.Gly351=) | |
| 7 | g.128394481C>G | CA369162028 | IMPDH1 | c.1561G>C (p.Gly521Arg) n.1544G>C c.1669G>C (p.Gly557Arg) c.1301G>C c.1639G>C (p.Gly547Arg) c.1570G>C (p.Gly524Arg) n.559G>C c.1434G>C c.1411G>C (p.Gly471Arg) c.1399G>C (p.Gly467Arg) c.1544G>C (n.1544G>C) c.1339G>C (p.Gly447Arg) c.1414G>C (p.Gly472Arg) c.1462G>C (p.Gly488Arg) c.1438G>C (p.Gly480Arg) c.1051G>C (p.Gly351Arg) | |
| 7 | g.128394481C>T | CA369162029 | IMPDH1 | c.1561G>A (p.Gly521Arg) n.1544G>A c.1669G>A (p.Gly557Arg) c.1301G>A c.1639G>A (p.Gly547Arg) c.1570G>A (p.Gly524Arg) n.559G>A c.1434G>A c.1411G>A (p.Gly471Arg) c.1399G>A (p.Gly467Arg) c.1544G>A (n.1544G>A) c.1339G>A (p.Gly447Arg) c.1414G>A (p.Gly472Arg) c.1462G>A (p.Gly488Arg) c.1438G>A (p.Gly480Arg) c.1051G>A (p.Gly351Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.128394482G>A | CA4470760 | IMPDH1 | c.1560C>T (p.Ile520=) n.1543C>T c.1668C>T (p.Ile556=) c.1300C>T c.1638C>T (p.Ile546=) c.1569C>T (p.Ile523=) n.558C>T c.1433C>T c.1410C>T (p.Ile470=) c.1398C>T (p.Ile466=) c.1543C>T (n.1543C>T) c.1338C>T (p.Ile446=) c.1413C>T (p.Ile471=) c.1461C>T (p.Ile487=) c.1437C>T (p.Ile479=) c.1050C>T (p.Ile350=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.128394482G>C | CA4470761 | IMPDH1 | c.1560C>G (p.Ile520Met) n.1543C>G c.1668C>G (p.Ile556Met) c.1300C>G c.1638C>G (p.Ile546Met) c.1569C>G (p.Ile523Met) n.558C>G c.1433C>G c.1410C>G (p.Ile470Met) c.1398C>G (p.Ile466Met) c.1543C>G (n.1543C>G) c.1338C>G (p.Ile446Met) c.1413C>G (p.Ile471Met) c.1461C>G (p.Ile487Met) c.1437C>G (p.Ile479Met) c.1050C>G (p.Ile350Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.128394482G= | CA1742358247 | IMPDH1 | c.1560C= (p.Ile520=) n.1543C= c.1668C= (p.Ile556=) c.1300C= c.1638C= (p.Ile546=) c.1569C= (p.Ile523=) n.558C= c.1433C= c.1410C= (p.Ile470=) c.1398C= (p.Ile466=) c.1543C= (n.1543C=) c.1338C= (p.Ile446=) c.1413C= (p.Ile471=) c.1461C= (p.Ile487=) c.1437C= (p.Ile479=) c.1050C= (p.Ile350=) | |
| 7 | g.128394482G>T | CA457844175 | IMPDH1 | c.1560C>A (p.Ile520=) n.1543C>A c.1668C>A (p.Ile556=) c.1300C>A c.1638C>A (p.Ile546=) c.1569C>A (p.Ile523=) n.558C>A c.1433C>A c.1410C>A (p.Ile470=) c.1398C>A (p.Ile466=) c.1543C>A (n.1543C>A) c.1338C>A (p.Ile446=) c.1413C>A (p.Ile471=) c.1461C>A (p.Ile487=) c.1437C>A (p.Ile479=) c.1050C>A (p.Ile350=) | |
| 7 | g.128394482dup | CA1742358244 | IMPDH1 | c.1560dup (p.Gly521ArgfsTer20) n.1543dup c.1668dup (p.Gly557ArgfsTer20) c.1300dup c.1638dup (p.Gly547ArgfsTer20) c.1569dup (p.Gly524ArgfsTer20) n.558dup c.1433dup c.1410dup (p.Gly471ArgfsTer20) c.1398dup (p.Gly467ArgfsTer20) c.1543dup (n.1543dup) c.1338dup (p.Gly447ArgfsTer20) c.1413dup (p.Gly472ArgfsTer20) c.1461dup (p.Gly488ArgfsTer20) c.1437dup (p.Gly480ArgfsTer20) c.1050dup (p.Gly351ArgfsTer20) | dbSNP |
| 7 | g.128394483A>C | CA369162030 | IMPDH1 | c.1559T>G (p.Ile520Ser) n.1542T>G c.1667T>G (p.Ile556Ser) c.1299T>G c.1637T>G (p.Ile546Ser) c.1568T>G (p.Ile523Ser) n.557T>G c.1432T>G c.1409T>G (p.Ile470Ser) c.1397T>G (p.Ile466Ser) c.1542T>G (n.1542T>G) c.1337T>G (p.Ile446Ser) c.1412T>G (p.Ile471Ser) c.1460T>G (p.Ile487Ser) c.1436T>G (p.Ile479Ser) c.1049T>G (p.Ile350Ser) | |
| 7 | g.128394483A>G | CA369162031 | IMPDH1 | c.1559T>C (p.Ile520Thr) n.1542T>C c.1667T>C (p.Ile556Thr) c.1299T>C c.1637T>C (p.Ile546Thr) c.1568T>C (p.Ile523Thr) n.557T>C c.1432T>C c.1409T>C (p.Ile470Thr) c.1397T>C (p.Ile466Thr) c.1542T>C (n.1542T>C) c.1337T>C (p.Ile446Thr) c.1412T>C (p.Ile471Thr) c.1460T>C (p.Ile487Thr) c.1436T>C (p.Ile479Thr) c.1049T>C (p.Ile350Thr) | |
| 7 | g.128394483A>T | CA369162032 | IMPDH1 | c.1559T>A (p.Ile520Asn) n.1542T>A c.1667T>A (p.Ile556Asn) c.1299T>A c.1637T>A (p.Ile546Asn) c.1568T>A (p.Ile523Asn) n.557T>A c.1432T>A c.1409T>A (p.Ile470Asn) c.1397T>A (p.Ile466Asn) c.1542T>A (n.1542T>A) c.1337T>A (p.Ile446Asn) c.1412T>A (p.Ile471Asn) c.1460T>A (p.Ile487Asn) c.1436T>A (p.Ile479Asn) c.1049T>A (p.Ile350Asn) | |
| 7 | g.128394484T>A | CA369162033 | IMPDH1 | c.1558A>T (p.Ile520Phe) n.1541A>T c.1666A>T (p.Ile556Phe) c.1298A>T c.1636A>T (p.Ile546Phe) c.1567A>T (p.Ile523Phe) n.556A>T c.1431A>T c.1408A>T (p.Ile470Phe) c.1396A>T (p.Ile466Phe) c.1541A>T (n.1541A>T) c.1336A>T (p.Ile446Phe) c.1411A>T (p.Ile471Phe) c.1459A>T (p.Ile487Phe) c.1435A>T (p.Ile479Phe) c.1048A>T (p.Ile350Phe) | |
| 7 | g.128394484T>C | CA369162034 | IMPDH1 | c.1558A>G (p.Ile520Val) n.1541A>G c.1666A>G (p.Ile556Val) c.1298A>G c.1636A>G (p.Ile546Val) c.1567A>G (p.Ile523Val) n.556A>G c.1431A>G c.1408A>G (p.Ile470Val) c.1396A>G (p.Ile466Val) c.1541A>G (n.1541A>G) c.1336A>G (p.Ile446Val) c.1411A>G (p.Ile471Val) c.1459A>G (p.Ile487Val) c.1435A>G (p.Ile479Val) c.1048A>G (p.Ile350Val) | |
| 7 | g.128394484T>G | CA369162035 | IMPDH1 | c.1558A>C (p.Ile520Leu) n.1541A>C c.1666A>C (p.Ile556Leu) c.1298A>C c.1636A>C (p.Ile546Leu) c.1567A>C (p.Ile523Leu) n.556A>C c.1431A>C c.1408A>C (p.Ile470Leu) c.1396A>C (p.Ile466Leu) c.1541A>C (n.1541A>C) c.1336A>C (p.Ile446Leu) c.1411A>C (p.Ile471Leu) c.1459A>C (p.Ile487Leu) c.1435A>C (p.Ile479Leu) c.1048A>C (p.Ile350Leu) | |
| 7 | g.128394485A>C | CA369162037 | IMPDH1 | c.1557T>G (p.Asp519Glu) n.1540T>G c.1665T>G (p.Asp555Glu) c.1297T>G c.1635T>G (p.Asp545Glu) c.1566T>G (p.Asp522Glu) n.555T>G c.1430T>G c.1407T>G (p.Asp469Glu) c.1395T>G (p.Asp465Glu) c.1540T>G (n.1540T>G) c.1335T>G (p.Asp445Glu) c.1410T>G (p.Asp470Glu) c.1458T>G (p.Asp486Glu) c.1434T>G (p.Asp478Glu) c.1047T>G (p.Asp349Glu) | |
| 7 | g.128394485A>G | CA457844176 | IMPDH1 | c.1557T>C (p.Asp519=) n.1540T>C c.1665T>C (p.Asp555=) c.1297T>C c.1635T>C (p.Asp545=) c.1566T>C (p.Asp522=) n.555T>C c.1430T>C c.1407T>C (p.Asp469=) c.1395T>C (p.Asp465=) c.1540T>C (n.1540T>C) c.1335T>C (p.Asp445=) c.1410T>C (p.Asp470=) c.1458T>C (p.Asp486=) c.1434T>C (p.Asp478=) c.1047T>C (p.Asp349=) | |
| 7 | g.128394485A>T | CA369162036 | IMPDH1 | c.1557T>A (p.Asp519Glu) n.1540T>A c.1665T>A (p.Asp555Glu) c.1297T>A c.1635T>A (p.Asp545Glu) c.1566T>A (p.Asp522Glu) n.555T>A c.1430T>A c.1407T>A (p.Asp469Glu) c.1395T>A (p.Asp465Glu) c.1540T>A (n.1540T>A) c.1335T>A (p.Asp445Glu) c.1410T>A (p.Asp470Glu) c.1458T>A (p.Asp486Glu) c.1434T>A (p.Asp478Glu) c.1047T>A (p.Asp349Glu) | |
| 7 | g.128394486T>A | CA369162038 | IMPDH1 | c.1556A>T (p.Asp519Val) n.1539A>T c.1664A>T (p.Asp555Val) c.1296A>T c.1634A>T (p.Asp545Val) c.1565A>T (p.Asp522Val) n.554A>T c.1429A>T c.1406A>T (p.Asp469Val) c.1394A>T (p.Asp465Val) c.1539A>T (n.1539A>T) c.1334A>T (p.Asp445Val) c.1409A>T (p.Asp470Val) c.1457A>T (p.Asp486Val) c.1433A>T (p.Asp478Val) c.1046A>T (p.Asp349Val) | |
| 7 | g.128394486T>C | CA369162039 | IMPDH1 | c.1556A>G (p.Asp519Gly) n.1539A>G c.1664A>G (p.Asp555Gly) c.1296A>G c.1634A>G (p.Asp545Gly) c.1565A>G (p.Asp522Gly) n.554A>G c.1429A>G c.1406A>G (p.Asp469Gly) c.1394A>G (p.Asp465Gly) c.1539A>G (n.1539A>G) c.1334A>G (p.Asp445Gly) c.1409A>G (p.Asp470Gly) c.1457A>G (p.Asp486Gly) c.1433A>G (p.Asp478Gly) c.1046A>G (p.Asp349Gly) | |
| 7 | g.128394486T>G | CA369162040 | IMPDH1 | c.1556A>C (p.Asp519Ala) n.1539A>C c.1664A>C (p.Asp555Ala) c.1296A>C c.1634A>C (p.Asp545Ala) c.1565A>C (p.Asp522Ala) n.554A>C c.1429A>C c.1406A>C (p.Asp469Ala) c.1394A>C (p.Asp465Ala) c.1539A>C (n.1539A>C) c.1334A>C (p.Asp445Ala) c.1409A>C (p.Asp470Ala) c.1457A>C (p.Asp486Ala) c.1433A>C (p.Asp478Ala) c.1046A>C (p.Asp349Ala) | |
| 7 | g.128394487C>A | CA369162041 | IMPDH1 | c.1555G>T (p.Asp519Tyr) n.1538G>T c.1663G>T (p.Asp555Tyr) c.1295G>T c.1633G>T (p.Asp545Tyr) c.1564G>T (p.Asp522Tyr) n.553G>T c.1428G>T c.1405G>T (p.Asp469Tyr) c.1393G>T (p.Asp465Tyr) c.1538G>T (n.1538G>T) c.1333G>T (p.Asp445Tyr) c.1408G>T (p.Asp470Tyr) c.1456G>T (p.Asp486Tyr) c.1432G>T (p.Asp478Tyr) c.1045G>T (p.Asp349Tyr) | |
| 7 | g.128394487C= | CA1742358256 | IMPDH1 | c.1555G= (p.Asp519=) n.1538G= c.1663G= (p.Asp555=) c.1295G= c.1633G= (p.Asp545=) c.1564G= (p.Asp522=) n.553G= c.1428G= c.1405G= (p.Asp469=) c.1393G= (p.Asp465=) c.1538G= (n.1538G=) c.1333G= (p.Asp445=) c.1408G= (p.Asp470=) c.1456G= (p.Asp486=) c.1432G= (p.Asp478=) c.1045G= (p.Asp349=) | |
| 7 | g.128394487C>G | CA369162042 | IMPDH1 | c.1555G>C (p.Asp519His) n.1538G>C c.1663G>C (p.Asp555His) c.1295G>C c.1633G>C (p.Asp545His) c.1564G>C (p.Asp522His) n.553G>C c.1428G>C c.1405G>C (p.Asp469His) c.1393G>C (p.Asp465His) c.1538G>C (n.1538G>C) c.1333G>C (p.Asp445His) c.1408G>C (p.Asp470His) c.1456G>C (p.Asp486His) c.1432G>C (p.Asp478His) c.1045G>C (p.Asp349His) | |
| 7 | g.128394487C>T | CA369162043 | IMPDH1 | c.1555G>A (p.Asp519Asn) n.1538G>A c.1663G>A (p.Asp555Asn) c.1295G>A c.1633G>A (p.Asp545Asn) c.1564G>A (p.Asp522Asn) n.553G>A c.1428G>A c.1405G>A (p.Asp469Asn) c.1393G>A (p.Asp465Asn) c.1538G>A (n.1538G>A) c.1333G>A (p.Asp445Asn) c.1408G>A (p.Asp470Asn) c.1456G>A (p.Asp486Asn) c.1432G>A (p.Asp478Asn) c.1045G>A (p.Asp349Asn) | dbSNP gnomAD v4 |
| 7 | g.128394488C>A | CA369162044 | IMPDH1 | c.1554G>T (p.Gln518His) n.1537G>T c.1662G>T (p.Gln554His) c.1294G>T c.1632G>T (p.Gln544His) c.1563G>T (p.Gln521His) n.552G>T c.1427G>T c.1404G>T (p.Gln468His) c.1392G>T (p.Gln464His) c.1537G>T (n.1537G>T) c.1332G>T (p.Gln444His) c.1407G>T (p.Gln469His) c.1455G>T (p.Gln485His) c.1431G>T (p.Gln477His) c.1044G>T (p.Gln348His) | |
| 7 | g.128394488C= | CA1742358274 | IMPDH1 | c.1554G= (p.Gln518=) n.1537G= c.1662G= (p.Gln554=) c.1294G= c.1632G= (p.Gln544=) c.1563G= (p.Gln521=) n.552G= c.1427G= c.1404G= (p.Gln468=) c.1392G= (p.Gln464=) c.1537G= (n.1537G=) c.1332G= (p.Gln444=) c.1407G= (p.Gln469=) c.1455G= (p.Gln485=) c.1431G= (p.Gln477=) c.1044G= (p.Gln348=) | |
| 7 | g.128394488C>G | CA369162045 | IMPDH1 | c.1554G>C (p.Gln518His) n.1537G>C c.1662G>C (p.Gln554His) c.1294G>C c.1632G>C (p.Gln544His) c.1563G>C (p.Gln521His) n.552G>C c.1427G>C c.1404G>C (p.Gln468His) c.1392G>C (p.Gln464His) c.1537G>C (n.1537G>C) c.1332G>C (p.Gln444His) c.1407G>C (p.Gln469His) c.1455G>C (p.Gln485His) c.1431G>C (p.Gln477His) c.1044G>C (p.Gln348His) | |
| 7 | g.128394488C>T | CA4470762 | IMPDH1 | c.1554G>A (p.Gln518=) n.1537G>A c.1662G>A (p.Gln554=) c.1294G>A c.1632G>A (p.Gln544=) c.1563G>A (p.Gln521=) n.552G>A c.1427G>A c.1404G>A (p.Gln468=) c.1392G>A (p.Gln464=) c.1537G>A (n.1537G>A) c.1332G>A (p.Gln444=) c.1407G>A (p.Gln469=) c.1455G>A (p.Gln485=) c.1431G>A (p.Gln477=) c.1044G>A (p.Gln348=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.128394489T>A | CA369162046 | IMPDH1 | c.1553A>T (p.Gln518Leu) n.1536A>T c.1661A>T (p.Gln554Leu) c.1293A>T c.1631A>T (p.Gln544Leu) c.1562A>T (p.Gln521Leu) n.551A>T c.1426A>T c.1403A>T (p.Gln468Leu) c.1391A>T (p.Gln464Leu) c.1536A>T (n.1536A>T) c.1331A>T (p.Gln444Leu) c.1406A>T (p.Gln469Leu) c.1454A>T (p.Gln485Leu) c.1430A>T (p.Gln477Leu) c.1043A>T (p.Gln348Leu) | |
| 7 | g.128394489T>C | CA369162047 | IMPDH1 | c.1553A>G (p.Gln518Arg) n.1536A>G c.1661A>G (p.Gln554Arg) c.1293A>G c.1631A>G (p.Gln544Arg) c.1562A>G (p.Gln521Arg) n.551A>G c.1426A>G c.1403A>G (p.Gln468Arg) c.1391A>G (p.Gln464Arg) c.1536A>G (n.1536A>G) c.1331A>G (p.Gln444Arg) c.1406A>G (p.Gln469Arg) c.1454A>G (p.Gln485Arg) c.1430A>G (p.Gln477Arg) c.1043A>G (p.Gln348Arg) |