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 |
|---|---|---|---|---|---|
| 20 | g.44429638G>A | CA9870541 | HNF4A | c.1332G>A (p.Pro444=) c.1398G>A (p.Pro466=) c.*1165G>A (n.*1165G>A) c.1368G>A (p.Pro456=) c.1302G>A (p.Pro434=) c.1323G>A (p.Pro441=) c.1377G>A (p.Pro459=) c.1293G>A (p.Pro431=) c.1515G>A (p.Pro505=) c.1416G>A (p.Pro472=) c.1446G>A (p.Pro482=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 20 | g.44429638G>C | CA510583505 | HNF4A | c.1332G>C (p.Pro444=) c.1398G>C (p.Pro466=) c.*1165G>C (n.*1165G>C) c.1368G>C (p.Pro456=) c.1302G>C (p.Pro434=) c.1323G>C (p.Pro441=) c.1377G>C (p.Pro459=) c.1293G>C (p.Pro431=) c.1515G>C (p.Pro505=) c.1416G>C (p.Pro472=) c.1446G>C (p.Pro482=) | |
| 20 | g.44429638G= | CA2365768649 | HNF4A | c.1332G= (p.Pro444=) c.1398G= (p.Pro466=) c.*1165G= (n.*1165G=) c.1368G= (p.Pro456=) c.1302G= (p.Pro434=) c.1323G= (p.Pro441=) c.1377G= (p.Pro459=) c.1293G= (p.Pro431=) c.1515G= (p.Pro505=) c.1416G= (p.Pro472=) c.1446G= (p.Pro482=) | |
| 20 | g.44429638G>T | CA510583504 | HNF4A | c.1332G>T (p.Pro444=) c.1398G>T (p.Pro466=) c.*1165G>T (n.*1165G>T) c.1368G>T (p.Pro456=) c.1302G>T (p.Pro434=) c.1323G>T (p.Pro441=) c.1377G>T (p.Pro459=) c.1293G>T (p.Pro431=) c.1515G>T (p.Pro505=) c.1416G>T (p.Pro472=) c.1446G>T (p.Pro482=) | |
| 20 | g.44429639A>C | CA409110518 | HNF4A | c.1333A>C (p.Thr445Pro) c.1399A>C (p.Thr467Pro) c.*1166A>C (n.*1166A>C) c.1369A>C (p.Thr457Pro) c.1303A>C (p.Thr435Pro) c.1324A>C (p.Thr442Pro) c.1378A>C (p.Thr460Pro) c.1294A>C (p.Thr432Pro) c.1516A>C (p.Thr506Pro) c.1417A>C (p.Thr473Pro) c.1447A>C (p.Thr483Pro) | |
| 20 | g.44429639A>G | CA409110519 | HNF4A | c.1333A>G (p.Thr445Ala) c.1399A>G (p.Thr467Ala) c.*1166A>G (n.*1166A>G) c.1369A>G (p.Thr457Ala) c.1303A>G (p.Thr435Ala) c.1324A>G (p.Thr442Ala) c.1378A>G (p.Thr460Ala) c.1294A>G (p.Thr432Ala) c.1516A>G (p.Thr506Ala) c.1417A>G (p.Thr473Ala) c.1447A>G (p.Thr483Ala) | |
| 20 | g.44429639A>T | CA409110520 | HNF4A | c.1333A>T (p.Thr445Ser) c.1399A>T (p.Thr467Ser) c.*1166A>T (n.*1166A>T) c.1369A>T (p.Thr457Ser) c.1303A>T (p.Thr435Ser) c.1324A>T (p.Thr442Ser) c.1378A>T (p.Thr460Ser) c.1294A>T (p.Thr432Ser) c.1516A>T (p.Thr506Ser) c.1417A>T (p.Thr473Ser) c.1447A>T (p.Thr483Ser) | |
| 20 | g.44429640C>A | CA409110521 | HNF4A | c.1334C>A (p.Thr445Asn) c.1400C>A (p.Thr467Asn) c.*1167C>A (n.*1167C>A) c.1370C>A (p.Thr457Asn) c.1304C>A (p.Thr435Asn) c.1325C>A (p.Thr442Asn) c.1379C>A (p.Thr460Asn) c.1295C>A (p.Thr432Asn) c.1517C>A (p.Thr506Asn) c.1418C>A (p.Thr473Asn) c.1448C>A (p.Thr483Asn) | gnomAD v4 |
| 20 | g.44429640C= | CA2365768650 | HNF4A | c.1334C= (p.Thr445=) c.1400C= (p.Thr467=) c.*1167C= (n.*1167C=) c.1370C= (p.Thr457=) c.1304C= (p.Thr435=) c.1325C= (p.Thr442=) c.1379C= (p.Thr460=) c.1295C= (p.Thr432=) c.1517C= (p.Thr506=) c.1418C= (p.Thr473=) c.1448C= (p.Thr483=) | |
| 20 | g.44429640C>G | CA409110522 | HNF4A | c.1334C>G (p.Thr445Ser) c.1400C>G (p.Thr467Ser) c.*1167C>G (n.*1167C>G) c.1370C>G (p.Thr457Ser) c.1304C>G (p.Thr435Ser) c.1325C>G (p.Thr442Ser) c.1379C>G (p.Thr460Ser) c.1295C>G (p.Thr432Ser) c.1517C>G (p.Thr506Ser) c.1418C>G (p.Thr473Ser) c.1448C>G (p.Thr483Ser) | |
| 20 | g.44429640C>T | CA315420831 | HNF4A | c.1334C>T (p.Thr445Ile) c.1400C>T (p.Thr467Ile) c.*1167C>T (n.*1167C>T) c.1370C>T (p.Thr457Ile) c.1304C>T (p.Thr435Ile) c.1325C>T (p.Thr442Ile) c.1379C>T (p.Thr460Ile) c.1295C>T (p.Thr432Ile) c.1517C>T (p.Thr506Ile) c.1418C>T (p.Thr473Ile) c.1448C>T (p.Thr483Ile) | dbSNP gnomAD v4 |
| 20 | g.44429641C>A | CA510583506 | HNF4A | c.1335C>A (p.Thr445=) c.1401C>A (p.Thr467=) c.*1168C>A (n.*1168C>A) c.1371C>A (p.Thr457=) c.1305C>A (p.Thr435=) c.1326C>A (p.Thr442=) c.1380C>A (p.Thr460=) c.1296C>A (p.Thr432=) c.1518C>A (p.Thr506=) c.1419C>A (p.Thr473=) c.1449C>A (p.Thr483=) | |
| 20 | g.44429641C>G | CA510583508 | HNF4A | c.1335C>G (p.Thr445=) c.1401C>G (p.Thr467=) c.*1168C>G (n.*1168C>G) c.1371C>G (p.Thr457=) c.1305C>G (p.Thr435=) c.1326C>G (p.Thr442=) c.1380C>G (p.Thr460=) c.1296C>G (p.Thr432=) c.1518C>G (p.Thr506=) c.1419C>G (p.Thr473=) c.1449C>G (p.Thr483=) | |
| 20 | g.44429641C>T | CA510583507 | HNF4A | c.1335C>T (p.Thr445=) c.1401C>T (p.Thr467=) c.*1168C>T (n.*1168C>T) c.1371C>T (p.Thr457=) c.1305C>T (p.Thr435=) c.1326C>T (p.Thr442=) c.1380C>T (p.Thr460=) c.1296C>T (p.Thr432=) c.1518C>T (p.Thr506=) c.1419C>T (p.Thr473=) c.1449C>T (p.Thr483=) | |
| 20 | g.44429642A>C | CA409110523 | HNF4A | c.1336A>C (p.Ile446Leu) c.1402A>C (p.Ile468Leu) c.*1169A>C (n.*1169A>C) c.1372A>C (p.Ile458Leu) c.1306A>C (p.Ile436Leu) c.1327A>C (p.Ile443Leu) c.1381A>C (p.Ile461Leu) c.1297A>C (p.Ile433Leu) c.1519A>C (p.Ile507Leu) c.1420A>C (p.Ile474Leu) c.1450A>C (p.Ile484Leu) | |
| 20 | g.44429642A>G | CA409110524 | HNF4A | c.1336A>G (p.Ile446Val) c.1402A>G (p.Ile468Val) c.*1169A>G (n.*1169A>G) c.1372A>G (p.Ile458Val) c.1306A>G (p.Ile436Val) c.1327A>G (p.Ile443Val) c.1381A>G (p.Ile461Val) c.1297A>G (p.Ile433Val) c.1519A>G (p.Ile507Val) c.1420A>G (p.Ile474Val) c.1450A>G (p.Ile484Val) | |
| 20 | g.44429642A>T | CA409110525 | HNF4A | c.1336A>T (p.Ile446Phe) c.1402A>T (p.Ile468Phe) c.*1169A>T (n.*1169A>T) c.1372A>T (p.Ile458Phe) c.1306A>T (p.Ile436Phe) c.1327A>T (p.Ile443Phe) c.1381A>T (p.Ile461Phe) c.1297A>T (p.Ile433Phe) c.1519A>T (p.Ile507Phe) c.1420A>T (p.Ile474Phe) c.1450A>T (p.Ile484Phe) | |
| 20 | g.44429643T>A | CA409110526 | HNF4A | c.1337T>A (p.Ile446Asn) c.1403T>A (p.Ile468Asn) c.*1170T>A (n.*1170T>A) c.1373T>A (p.Ile458Asn) c.1307T>A (p.Ile436Asn) c.1328T>A (p.Ile443Asn) c.1382T>A (p.Ile461Asn) c.1298T>A (p.Ile433Asn) c.1520T>A (p.Ile507Asn) c.1421T>A (p.Ile474Asn) c.1451T>A (p.Ile484Asn) | |
| 20 | g.44429643T>C | CA9870542 | HNF4A | c.1337T>C (p.Ile446Thr) c.1403T>C (p.Ile468Thr) c.*1170T>C (n.*1170T>C) c.1373T>C (p.Ile458Thr) c.1307T>C (p.Ile436Thr) c.1328T>C (p.Ile443Thr) c.1382T>C (p.Ile461Thr) c.1298T>C (p.Ile433Thr) c.1520T>C (p.Ile507Thr) c.1421T>C (p.Ile474Thr) c.1451T>C (p.Ile484Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44429643T>G | CA409110527 | HNF4A | c.1337T>G (p.Ile446Ser) c.1403T>G (p.Ile468Ser) c.*1170T>G (n.*1170T>G) c.1373T>G (p.Ile458Ser) c.1307T>G (p.Ile436Ser) c.1328T>G (p.Ile443Ser) c.1382T>G (p.Ile461Ser) c.1298T>G (p.Ile433Ser) c.1520T>G (p.Ile507Ser) c.1421T>G (p.Ile474Ser) c.1451T>G (p.Ile484Ser) | gnomAD v4 |
| 20 | g.44429643T= | CA2365768651 | HNF4A | c.1337T= (p.Ile446=) c.1403T= (p.Ile468=) c.*1170T= (n.*1170T=) c.1373T= (p.Ile458=) c.1307T= (p.Ile436=) c.1328T= (p.Ile443=) c.1382T= (p.Ile461=) c.1298T= (p.Ile433=) c.1520T= (p.Ile507=) c.1421T= (p.Ile474=) c.1451T= (p.Ile484=) | |
| 20 | g.44429644C>A | CA510583509 | HNF4A | c.1338C>A (p.Ile446=) c.1404C>A (p.Ile468=) c.*1171C>A (n.*1171C>A) c.1374C>A (p.Ile458=) c.1308C>A (p.Ile436=) c.1329C>A (p.Ile443=) c.1383C>A (p.Ile461=) c.1299C>A (p.Ile433=) c.1521C>A (p.Ile507=) c.1422C>A (p.Ile474=) c.1452C>A (p.Ile484=) | |
| 20 | g.44429644C>G | CA409110528 | HNF4A | c.1338C>G (p.Ile446Met) c.1404C>G (p.Ile468Met) c.*1171C>G (n.*1171C>G) c.1374C>G (p.Ile458Met) c.1308C>G (p.Ile436Met) c.1329C>G (p.Ile443Met) c.1383C>G (p.Ile461Met) c.1299C>G (p.Ile433Met) c.1521C>G (p.Ile507Met) c.1422C>G (p.Ile474Met) c.1452C>G (p.Ile484Met) | |
| 20 | g.44429644C>T | CA510583510 | HNF4A | c.1338C>T (p.Ile446=) c.1404C>T (p.Ile468=) c.*1171C>T (n.*1171C>T) c.1374C>T (p.Ile458=) c.1308C>T (p.Ile436=) c.1329C>T (p.Ile443=) c.1383C>T (p.Ile461=) c.1299C>T (p.Ile433=) c.1521C>T (p.Ile507=) c.1422C>T (p.Ile474=) c.1452C>T (p.Ile484=) | |
| 20 | g.44429645A= | CA2365768652 | HNF4A | c.1339A= (p.Thr447=) c.1405A= (p.Thr469=) c.*1172A= (n.*1172A=) c.1375A= (p.Thr459=) c.1309A= (p.Thr437=) c.1330A= (p.Thr444=) c.1384A= (p.Thr462=) c.1300A= (p.Thr434=) c.1522A= (p.Thr508=) c.1423A= (p.Thr475=) c.1453A= (p.Thr485=) | |
| 20 | g.44429645A>C | CA9870543 | HNF4A | c.1339A>C (p.Thr447Pro) c.1405A>C (p.Thr469Pro) c.*1172A>C (n.*1172A>C) c.1375A>C (p.Thr459Pro) c.1309A>C (p.Thr437Pro) c.1330A>C (p.Thr444Pro) c.1384A>C (p.Thr462Pro) c.1300A>C (p.Thr434Pro) c.1522A>C (p.Thr508Pro) c.1423A>C (p.Thr475Pro) c.1453A>C (p.Thr485Pro) | dbSNP ExAC gnomAD v2 |
| 20 | g.44429645A>G | CA409110529 | HNF4A | c.1339A>G (p.Thr447Ala) c.1405A>G (p.Thr469Ala) c.*1172A>G (n.*1172A>G) c.1375A>G (p.Thr459Ala) c.1309A>G (p.Thr437Ala) c.1330A>G (p.Thr444Ala) c.1384A>G (p.Thr462Ala) c.1300A>G (p.Thr434Ala) c.1522A>G (p.Thr508Ala) c.1423A>G (p.Thr475Ala) c.1453A>G (p.Thr485Ala) | |
| 20 | g.44429645A>T | CA409110530 | HNF4A | c.1339A>T (p.Thr447Ser) c.1405A>T (p.Thr469Ser) c.*1172A>T (n.*1172A>T) c.1375A>T (p.Thr459Ser) c.1309A>T (p.Thr437Ser) c.1330A>T (p.Thr444Ser) c.1384A>T (p.Thr462Ser) c.1300A>T (p.Thr434Ser) c.1522A>T (p.Thr508Ser) c.1423A>T (p.Thr475Ser) c.1453A>T (p.Thr485Ser) | dbSNP |
| 20 | g.44429646C>A | CA409110532 | HNF4A | c.1340C>A (p.Thr447Asn) c.1406C>A (p.Thr469Asn) c.*1173C>A (n.*1173C>A) c.1376C>A (p.Thr459Asn) c.1310C>A (p.Thr437Asn) c.1331C>A (p.Thr444Asn) c.1385C>A (p.Thr462Asn) c.1301C>A (p.Thr434Asn) c.1523C>A (p.Thr508Asn) c.1424C>A (p.Thr475Asn) c.1454C>A (p.Thr485Asn) | |
| 20 | g.44429646C>G | CA409110533 | HNF4A | c.1340C>G (p.Thr447Ser) c.1406C>G (p.Thr469Ser) c.*1173C>G (n.*1173C>G) c.1376C>G (p.Thr459Ser) c.1310C>G (p.Thr437Ser) c.1331C>G (p.Thr444Ser) c.1385C>G (p.Thr462Ser) c.1301C>G (p.Thr434Ser) c.1523C>G (p.Thr508Ser) c.1424C>G (p.Thr475Ser) c.1454C>G (p.Thr485Ser) | |
| 20 | g.44429646C>T | CA409110531 | HNF4A | c.1340C>T (p.Thr447Ile) c.1406C>T (p.Thr469Ile) c.*1173C>T (n.*1173C>T) c.1376C>T (p.Thr459Ile) c.1310C>T (p.Thr437Ile) c.1331C>T (p.Thr444Ile) c.1385C>T (p.Thr462Ile) c.1301C>T (p.Thr434Ile) c.1523C>T (p.Thr508Ile) c.1424C>T (p.Thr475Ile) c.1454C>T (p.Thr485Ile) | |
| 20 | g.44429647C>A | CA510583511 | HNF4A | c.1341C>A (p.Thr447=) c.1407C>A (p.Thr469=) c.*1174C>A (n.*1174C>A) c.1377C>A (p.Thr459=) c.1311C>A (p.Thr437=) c.1332C>A (p.Thr444=) c.1386C>A (p.Thr462=) c.1302C>A (p.Thr434=) c.1524C>A (p.Thr508=) c.1425C>A (p.Thr475=) c.1455C>A (p.Thr485=) | |
| 20 | g.44429647C>G | CA510583512 | HNF4A | c.1341C>G (p.Thr447=) c.1407C>G (p.Thr469=) c.*1174C>G (n.*1174C>G) c.1377C>G (p.Thr459=) c.1311C>G (p.Thr437=) c.1332C>G (p.Thr444=) c.1386C>G (p.Thr462=) c.1302C>G (p.Thr434=) c.1524C>G (p.Thr508=) c.1425C>G (p.Thr475=) c.1455C>G (p.Thr485=) | |
| 20 | g.44429647C>T | CA510583513 | HNF4A | c.1341C>T (p.Thr447=) c.1407C>T (p.Thr469=) c.*1174C>T (n.*1174C>T) c.1377C>T (p.Thr459=) c.1311C>T (p.Thr437=) c.1332C>T (p.Thr444=) c.1386C>T (p.Thr462=) c.1302C>T (p.Thr434=) c.1524C>T (p.Thr508=) c.1425C>T (p.Thr475=) c.1455C>T (p.Thr485=) | |
| 20 | g.44429648A>C | CA409110534 | HNF4A | c.1342A>C (p.Lys448Gln) c.1408A>C (p.Lys470Gln) c.*1175A>C (n.*1175A>C) c.1378A>C (p.Lys460Gln) c.1312A>C (p.Lys438Gln) c.1333A>C (p.Lys445Gln) c.1387A>C (p.Lys463Gln) c.1303A>C (p.Lys435Gln) c.1525A>C (p.Lys509Gln) c.1426A>C (p.Lys476Gln) c.1456A>C (p.Lys486Gln) | gnomAD v4 |
| 20 | g.44429648A>G | CA409110535 | HNF4A | c.1342A>G (p.Lys448Glu) c.1408A>G (p.Lys470Glu) c.*1175A>G (n.*1175A>G) c.1378A>G (p.Lys460Glu) c.1312A>G (p.Lys438Glu) c.1333A>G (p.Lys445Glu) c.1387A>G (p.Lys463Glu) c.1303A>G (p.Lys435Glu) c.1525A>G (p.Lys509Glu) c.1426A>G (p.Lys476Glu) c.1456A>G (p.Lys486Glu) | |
| 20 | g.44429648A>T | CA409110536 | HNF4A | c.1342A>T (p.Lys448Ter) c.1408A>T (p.Lys470Ter) c.*1175A>T (n.*1175A>T) c.1378A>T (p.Lys460Ter) c.1312A>T (p.Lys438Ter) c.1333A>T (p.Lys445Ter) c.1387A>T (p.Lys463Ter) c.1303A>T (p.Lys435Ter) c.1525A>T (p.Lys509Ter) c.1426A>T (p.Lys476Ter) c.1456A>T (p.Lys486Ter) | |
| 20 | g.44429649A>C | CA409110537 | HNF4A | c.1343A>C (p.Lys448Thr) c.1409A>C (p.Lys470Thr) c.*1176A>C (n.*1176A>C) c.1379A>C (p.Lys460Thr) c.1313A>C (p.Lys438Thr) c.1334A>C (p.Lys445Thr) c.1388A>C (p.Lys463Thr) c.1304A>C (p.Lys435Thr) c.1526A>C (p.Lys509Thr) c.1427A>C (p.Lys476Thr) c.1457A>C (p.Lys486Thr) | |
| 20 | g.44429649A>G | CA409110538 | HNF4A | c.1343A>G (p.Lys448Arg) c.1409A>G (p.Lys470Arg) c.*1176A>G (n.*1176A>G) c.1379A>G (p.Lys460Arg) c.1313A>G (p.Lys438Arg) c.1334A>G (p.Lys445Arg) c.1388A>G (p.Lys463Arg) c.1304A>G (p.Lys435Arg) c.1526A>G (p.Lys509Arg) c.1427A>G (p.Lys476Arg) c.1457A>G (p.Lys486Arg) | |
| 20 | g.44429649A>T | CA409110539 | HNF4A | c.1343A>T (p.Lys448Met) c.1409A>T (p.Lys470Met) c.*1176A>T (n.*1176A>T) c.1379A>T (p.Lys460Met) c.1313A>T (p.Lys438Met) c.1334A>T (p.Lys445Met) c.1388A>T (p.Lys463Met) c.1304A>T (p.Lys435Met) c.1526A>T (p.Lys509Met) c.1427A>T (p.Lys476Met) c.1457A>T (p.Lys486Met) | |
| 20 | g.44429650G>A | CA510583514 | HNF4A | c.1344G>A (p.Lys448=) c.1410G>A (p.Lys470=) c.*1177G>A (n.*1177G>A) c.1380G>A (p.Lys460=) c.1314G>A (p.Lys438=) c.1335G>A (p.Lys445=) c.1389G>A (p.Lys463=) c.1305G>A (p.Lys435=) c.1527G>A (p.Lys509=) c.1428G>A (p.Lys476=) c.1458G>A (p.Lys486=) | dbSNP gnomAD v2 |
| 20 | g.44429650G>C | CA409110540 | HNF4A | c.1344G>C (p.Lys448Asn) c.1410G>C (p.Lys470Asn) c.*1177G>C (n.*1177G>C) c.1380G>C (p.Lys460Asn) c.1314G>C (p.Lys438Asn) c.1335G>C (p.Lys445Asn) c.1389G>C (p.Lys463Asn) c.1305G>C (p.Lys435Asn) c.1527G>C (p.Lys509Asn) c.1428G>C (p.Lys476Asn) c.1458G>C (p.Lys486Asn) | |
| 20 | g.44429650G= | CA2365768653 | HNF4A | c.1344G= (p.Lys448=) c.1410G= (p.Lys470=) c.*1177G= (n.*1177G=) c.1380G= (p.Lys460=) c.1314G= (p.Lys438=) c.1335G= (p.Lys445=) c.1389G= (p.Lys463=) c.1305G= (p.Lys435=) c.1527G= (p.Lys509=) c.1428G= (p.Lys476=) c.1458G= (p.Lys486=) | |
| 20 | g.44429650G>T | CA409110541 | HNF4A | c.1344G>T (p.Lys448Asn) c.1410G>T (p.Lys470Asn) c.*1177G>T (n.*1177G>T) c.1380G>T (p.Lys460Asn) c.1314G>T (p.Lys438Asn) c.1335G>T (p.Lys445Asn) c.1389G>T (p.Lys463Asn) c.1305G>T (p.Lys435Asn) c.1527G>T (p.Lys509Asn) c.1428G>T (p.Lys476Asn) c.1458G>T (p.Lys486Asn) | |
| 20 | g.44429651C>A | CA409110542 | HNF4A | c.1345C>A (p.Gln449Lys) c.1411C>A (p.Gln471Lys) c.*1178C>A (n.*1178C>A) c.1381C>A (p.Gln461Lys) c.1315C>A (p.Gln439Lys) c.1336C>A (p.Gln446Lys) c.1390C>A (p.Gln464Lys) c.1306C>A (p.Gln436Lys) c.1528C>A (p.Gln510Lys) c.1429C>A (p.Gln477Lys) c.1459C>A (p.Gln487Lys) | dbSNP |
| 20 | g.44429651C= | CA2365768654 | HNF4A | c.1345C= (p.Gln449=) c.1411C= (p.Gln471=) c.*1178C= (n.*1178C=) c.1381C= (p.Gln461=) c.1315C= (p.Gln439=) c.1336C= (p.Gln446=) c.1390C= (p.Gln464=) c.1306C= (p.Gln436=) c.1528C= (p.Gln510=) c.1429C= (p.Gln477=) c.1459C= (p.Gln487=) | |
| 20 | g.44429651C>G | CA409110543 | HNF4A | c.1345C>G (p.Gln449Glu) c.1411C>G (p.Gln471Glu) c.*1178C>G (n.*1178C>G) c.1381C>G (p.Gln461Glu) c.1315C>G (p.Gln439Glu) c.1336C>G (p.Gln446Glu) c.1390C>G (p.Gln464Glu) c.1306C>G (p.Gln436Glu) c.1528C>G (p.Gln510Glu) c.1429C>G (p.Gln477Glu) c.1459C>G (p.Gln487Glu) | gnomAD v4 |
| 20 | g.44429651C>T | CA9870544 | HNF4A | c.1345C>T (p.Gln449Ter) c.1411C>T (p.Gln471Ter) c.*1178C>T (n.*1178C>T) c.1381C>T (p.Gln461Ter) c.1315C>T (p.Gln439Ter) c.1336C>T (p.Gln446Ter) c.1390C>T (p.Gln464Ter) c.1306C>T (p.Gln436Ter) c.1528C>T (p.Gln510Ter) c.1429C>T (p.Gln477Ter) c.1459C>T (p.Gln487Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44429652A>C | CA409110544 | HNF4A | c.1346A>C (p.Gln449Pro) c.1412A>C (p.Gln471Pro) c.*1179A>C (n.*1179A>C) c.1382A>C (p.Gln461Pro) c.1316A>C (p.Gln439Pro) c.1337A>C (p.Gln446Pro) c.1391A>C (p.Gln464Pro) c.1307A>C (p.Gln436Pro) c.1529A>C (p.Gln510Pro) c.1430A>C (p.Gln477Pro) c.1460A>C (p.Gln487Pro) | |
| 20 | g.44429652A>G | CA409110545 | HNF4A | c.1346A>G (p.Gln449Arg) c.1412A>G (p.Gln471Arg) c.*1179A>G (n.*1179A>G) c.1382A>G (p.Gln461Arg) c.1316A>G (p.Gln439Arg) c.1337A>G (p.Gln446Arg) c.1391A>G (p.Gln464Arg) c.1307A>G (p.Gln436Arg) c.1529A>G (p.Gln510Arg) c.1430A>G (p.Gln477Arg) c.1460A>G (p.Gln487Arg) |