Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
20 | g.44429652A>T | CA409110546 | HNF4A | c.1346A>T (p.Gln449Leu) c.1412A>T (p.Gln471Leu) c.*1179A>T (n.*1179A>T) c.1382A>T (p.Gln461Leu) c.1316A>T (p.Gln439Leu) c.1337A>T (p.Gln446Leu) c.1391A>T (p.Gln464Leu) c.1307A>T (p.Gln436Leu) c.1529A>T (p.Gln510Leu) c.1430A>T (p.Gln477Leu) c.1460A>T (p.Gln487Leu) | |
20 | g.44429653G>A | CA510583515 | HNF4A | c.1347G>A (p.Gln449=) c.1413G>A (p.Gln471=) c.*1180G>A (n.*1180G>A) c.1383G>A (p.Gln461=) c.1317G>A (p.Gln439=) c.1338G>A (p.Gln446=) c.1392G>A (p.Gln464=) c.1308G>A (p.Gln436=) c.1530G>A (p.Gln510=) c.1431G>A (p.Gln477=) c.1461G>A (p.Gln487=) | gnomAD v4 |
20 | g.44429653G>C | CA409110548 | HNF4A | c.1347G>C (p.Gln449His) c.1413G>C (p.Gln471His) c.*1180G>C (n.*1180G>C) c.1383G>C (p.Gln461His) c.1317G>C (p.Gln439His) c.1338G>C (p.Gln446His) c.1392G>C (p.Gln464His) c.1308G>C (p.Gln436His) c.1530G>C (p.Gln510His) c.1431G>C (p.Gln477His) c.1461G>C (p.Gln487His) | |
20 | g.44429653G>T | CA409110547 | HNF4A | c.1347G>T (p.Gln449His) c.1413G>T (p.Gln471His) c.*1180G>T (n.*1180G>T) c.1383G>T (p.Gln461His) c.1317G>T (p.Gln439His) c.1338G>T (p.Gln446His) c.1392G>T (p.Gln464His) c.1308G>T (p.Gln436His) c.1530G>T (p.Gln510His) c.1431G>T (p.Gln477His) c.1461G>T (p.Gln487His) | |
20 | g.44429654G>A | CA9870545 | HNF4A | c.1348G>A (p.Glu450Lys) c.1414G>A (p.Glu472Lys) c.*1181G>A (n.*1181G>A) c.1384G>A (p.Glu462Lys) c.1318G>A (p.Glu440Lys) c.1339G>A (p.Glu447Lys) c.1393G>A (p.Glu465Lys) c.1309G>A (p.Glu437Lys) c.1531G>A (p.Glu511Lys) c.1432G>A (p.Glu478Lys) c.1462G>A (p.Glu488Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
20 | g.44429654G>C | CA409110549 | HNF4A | c.1348G>C (p.Glu450Gln) c.1414G>C (p.Glu472Gln) c.*1181G>C (n.*1181G>C) c.1384G>C (p.Glu462Gln) c.1318G>C (p.Glu440Gln) c.1339G>C (p.Glu447Gln) c.1393G>C (p.Glu465Gln) c.1309G>C (p.Glu437Gln) c.1531G>C (p.Glu511Gln) c.1432G>C (p.Glu478Gln) c.1462G>C (p.Glu488Gln) | |
20 | g.44429654G= | CA2365768655 | HNF4A | c.1348G= (p.Glu450=) c.1414G= (p.Glu472=) c.*1181G= (n.*1181G=) c.1384G= (p.Glu462=) c.1318G= (p.Glu440=) c.1339G= (p.Glu447=) c.1393G= (p.Glu465=) c.1309G= (p.Glu437=) c.1531G= (p.Glu511=) c.1432G= (p.Glu478=) c.1462G= (p.Glu488=) | |
20 | g.44429654G>T | CA409110550 | HNF4A | c.1348G>T (p.Glu450Ter) c.1414G>T (p.Glu472Ter) c.*1181G>T (n.*1181G>T) c.1384G>T (p.Glu462Ter) c.1318G>T (p.Glu440Ter) c.1339G>T (p.Glu447Ter) c.1393G>T (p.Glu465Ter) c.1309G>T (p.Glu437Ter) c.1531G>T (p.Glu511Ter) c.1432G>T (p.Glu478Ter) c.1462G>T (p.Glu488Ter) | |
20 | g.44429655A= | CA2365768656 | HNF4A | c.1349A= (p.Glu450=) c.1415A= (p.Glu472=) c.*1182A= (n.*1182A=) c.1385A= (p.Glu462=) c.1319A= (p.Glu440=) c.1340A= (p.Glu447=) c.1394A= (p.Glu465=) c.1310A= (p.Glu437=) c.1532A= (p.Glu511=) c.1433A= (p.Glu478=) c.1463A= (p.Glu488=) | |
20 | g.44429655A>C | CA409110551 | HNF4A | c.1349A>C (p.Glu450Ala) c.1415A>C (p.Glu472Ala) c.*1182A>C (n.*1182A>C) c.1385A>C (p.Glu462Ala) c.1319A>C (p.Glu440Ala) c.1340A>C (p.Glu447Ala) c.1394A>C (p.Glu465Ala) c.1310A>C (p.Glu437Ala) c.1532A>C (p.Glu511Ala) c.1433A>C (p.Glu478Ala) c.1463A>C (p.Glu488Ala) | |
20 | g.44429655A>G | CA409110552 | HNF4A | c.1349A>G (p.Glu450Gly) c.1415A>G (p.Glu472Gly) c.*1182A>G (n.*1182A>G) c.1385A>G (p.Glu462Gly) c.1319A>G (p.Glu440Gly) c.1340A>G (p.Glu447Gly) c.1394A>G (p.Glu465Gly) c.1310A>G (p.Glu437Gly) c.1532A>G (p.Glu511Gly) c.1433A>G (p.Glu478Gly) c.1463A>G (p.Glu488Gly) | dbSNP gnomAD v4 |
20 | g.44429655A>T | CA409110553 | HNF4A | c.1349A>T (p.Glu450Val) c.1415A>T (p.Glu472Val) c.*1182A>T (n.*1182A>T) c.1385A>T (p.Glu462Val) c.1319A>T (p.Glu440Val) c.1340A>T (p.Glu447Val) c.1394A>T (p.Glu465Val) c.1310A>T (p.Glu437Val) c.1532A>T (p.Glu511Val) c.1433A>T (p.Glu478Val) c.1463A>T (p.Glu488Val) | |
20 | g.44429656A= | CA2365768657 | HNF4A | c.1350A= (p.Glu450=) c.1416A= (p.Glu472=) c.*1183A= (n.*1183A=) c.1386A= (p.Glu462=) c.1320A= (p.Glu440=) c.1341A= (p.Glu447=) c.1395A= (p.Glu465=) c.1311A= (p.Glu437=) c.1533A= (p.Glu511=) c.1434A= (p.Glu478=) c.1464A= (p.Glu488=) | |
20 | g.44429656A>C | CA409110555 | HNF4A | c.1350A>C (p.Glu450Asp) c.1416A>C (p.Glu472Asp) c.*1183A>C (n.*1183A>C) c.1386A>C (p.Glu462Asp) c.1320A>C (p.Glu440Asp) c.1341A>C (p.Glu447Asp) c.1395A>C (p.Glu465Asp) c.1311A>C (p.Glu437Asp) c.1533A>C (p.Glu511Asp) c.1434A>C (p.Glu478Asp) c.1464A>C (p.Glu488Asp) | |
20 | g.44429656A>G | CA510583516 | HNF4A | c.1350A>G (p.Glu450=) c.1416A>G (p.Glu472=) c.*1183A>G (n.*1183A>G) c.1386A>G (p.Glu462=) c.1320A>G (p.Glu440=) c.1341A>G (p.Glu447=) c.1395A>G (p.Glu465=) c.1311A>G (p.Glu437=) c.1533A>G (p.Glu511=) c.1434A>G (p.Glu478=) c.1464A>G (p.Glu488=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.44429656A>T | CA409110554 | HNF4A | c.1350A>T (p.Glu450Asp) c.1416A>T (p.Glu472Asp) c.*1183A>T (n.*1183A>T) c.1386A>T (p.Glu462Asp) c.1320A>T (p.Glu440Asp) c.1341A>T (p.Glu447Asp) c.1395A>T (p.Glu465Asp) c.1311A>T (p.Glu437Asp) c.1533A>T (p.Glu511Asp) c.1434A>T (p.Glu478Asp) c.1464A>T (p.Glu488Asp) | |
20 | g.44429657G>A | CA409110556 | HNF4A | c.1351G>A (p.Val451Ile) c.1417G>A (p.Val473Ile) c.*1184G>A (n.*1184G>A) c.1387G>A (p.Val463Ile) c.1321G>A (p.Val441Ile) c.1342G>A (p.Val448Ile) c.1396G>A (p.Val466Ile) c.1312G>A (p.Val438Ile) c.1534G>A (p.Val512Ile) c.1435G>A (p.Val479Ile) c.1465G>A (p.Val489Ile) | dbSNP gnomAD v2 |
20 | g.44429657G>C | CA409110557 | HNF4A | c.1351G>C (p.Val451Leu) c.1417G>C (p.Val473Leu) c.*1184G>C (n.*1184G>C) c.1387G>C (p.Val463Leu) c.1321G>C (p.Val441Leu) c.1342G>C (p.Val448Leu) c.1396G>C (p.Val466Leu) c.1312G>C (p.Val438Leu) c.1534G>C (p.Val512Leu) c.1435G>C (p.Val479Leu) c.1465G>C (p.Val489Leu) | gnomAD v4 |
20 | g.44429657G= | CA2365768658 | HNF4A | c.1351G= (p.Val451=) c.1417G= (p.Val473=) c.*1184G= (n.*1184G=) c.1387G= (p.Val463=) c.1321G= (p.Val441=) c.1342G= (p.Val448=) c.1396G= (p.Val466=) c.1312G= (p.Val438=) c.1534G= (p.Val512=) c.1435G= (p.Val479=) c.1465G= (p.Val489=) | |
20 | g.44429657G>T | CA409110558 | HNF4A | c.1351G>T (p.Val451Phe) c.1417G>T (p.Val473Phe) c.*1184G>T (n.*1184G>T) c.1387G>T (p.Val463Phe) c.1321G>T (p.Val441Phe) c.1342G>T (p.Val448Phe) c.1396G>T (p.Val466Phe) c.1312G>T (p.Val438Phe) c.1534G>T (p.Val512Phe) c.1435G>T (p.Val479Phe) c.1465G>T (p.Val489Phe) | |
20 | g.44429658T>A | CA409110559 | HNF4A | c.1352T>A (p.Val451Asp) c.1418T>A (p.Val473Asp) c.*1185T>A (n.*1185T>A) c.1388T>A (p.Val463Asp) c.1322T>A (p.Val441Asp) c.1343T>A (p.Val448Asp) c.1397T>A (p.Val466Asp) c.1313T>A (p.Val438Asp) c.1535T>A (p.Val512Asp) c.1436T>A (p.Val479Asp) c.1466T>A (p.Val489Asp) | |
20 | g.44429658T>C | CA409110560 | HNF4A | c.1352T>C (p.Val451Ala) c.1418T>C (p.Val473Ala) c.*1185T>C (n.*1185T>C) c.1388T>C (p.Val463Ala) c.1322T>C (p.Val441Ala) c.1343T>C (p.Val448Ala) c.1397T>C (p.Val466Ala) c.1313T>C (p.Val438Ala) c.1535T>C (p.Val512Ala) c.1436T>C (p.Val479Ala) c.1466T>C (p.Val489Ala) | |
20 | g.44429658T>G | CA409110561 | HNF4A | c.1352T>G (p.Val451Gly) c.1418T>G (p.Val473Gly) c.*1185T>G (n.*1185T>G) c.1388T>G (p.Val463Gly) c.1322T>G (p.Val441Gly) c.1343T>G (p.Val448Gly) c.1397T>G (p.Val466Gly) c.1313T>G (p.Val438Gly) c.1535T>G (p.Val512Gly) c.1436T>G (p.Val479Gly) c.1466T>G (p.Val489Gly) | |
20 | g.44429659T>A | CA510583517 | HNF4A | c.1353T>A (p.Val451=) c.1419T>A (p.Val473=) c.*1186T>A (n.*1186T>A) c.1389T>A (p.Val463=) c.1323T>A (p.Val441=) c.1344T>A (p.Val448=) c.1398T>A (p.Val466=) c.1314T>A (p.Val438=) c.1536T>A (p.Val512=) c.1437T>A (p.Val479=) c.1467T>A (p.Val489=) | |
20 | g.44429659T>C | CA510583519 | HNF4A | c.1353T>C (p.Val451=) c.1419T>C (p.Val473=) c.*1186T>C (n.*1186T>C) c.1389T>C (p.Val463=) c.1323T>C (p.Val441=) c.1344T>C (p.Val448=) c.1398T>C (p.Val466=) c.1314T>C (p.Val438=) c.1536T>C (p.Val512=) c.1437T>C (p.Val479=) c.1467T>C (p.Val489=) | |
20 | g.44429659T>G | CA510583518 | HNF4A | c.1353T>G (p.Val451=) c.1419T>G (p.Val473=) c.*1186T>G (n.*1186T>G) c.1389T>G (p.Val463=) c.1323T>G (p.Val441=) c.1344T>G (p.Val448=) c.1398T>G (p.Val466=) c.1314T>G (p.Val438=) c.1536T>G (p.Val512=) c.1437T>G (p.Val479=) c.1467T>G (p.Val489=) | |
20 | g.44429660A>C | CA409110562 | HNF4A | c.1354A>C (p.Ile452Leu) c.1420A>C (p.Ile474Leu) c.*1187A>C (n.*1187A>C) c.1390A>C (p.Ile464Leu) c.1324A>C (p.Ile442Leu) c.1345A>C (p.Ile449Leu) c.1399A>C (p.Ile467Leu) c.1315A>C (p.Ile439Leu) c.1537A>C (p.Ile513Leu) c.1438A>C (p.Ile480Leu) c.1468A>C (p.Ile490Leu) | |
20 | g.44429660A>G | CA409110564 | HNF4A | c.1354A>G (p.Ile452Val) c.1420A>G (p.Ile474Val) c.*1187A>G (n.*1187A>G) c.1390A>G (p.Ile464Val) c.1324A>G (p.Ile442Val) c.1345A>G (p.Ile449Val) c.1399A>G (p.Ile467Val) c.1315A>G (p.Ile439Val) c.1537A>G (p.Ile513Val) c.1438A>G (p.Ile480Val) c.1468A>G (p.Ile490Val) | |
20 | g.44429660A>T | CA409110563 | HNF4A | c.1354A>T (p.Ile452Phe) c.1420A>T (p.Ile474Phe) c.*1187A>T (n.*1187A>T) c.1390A>T (p.Ile464Phe) c.1324A>T (p.Ile442Phe) c.1345A>T (p.Ile449Phe) c.1399A>T (p.Ile467Phe) c.1315A>T (p.Ile439Phe) c.1537A>T (p.Ile513Phe) c.1438A>T (p.Ile480Phe) c.1468A>T (p.Ile490Phe) | |
20 | g.44429661T>A | CA409110565 | HNF4A | c.1355T>A (p.Ile452Asn) c.1421T>A (p.Ile474Asn) c.*1188T>A (n.*1188T>A) c.1391T>A (p.Ile464Asn) c.1325T>A (p.Ile442Asn) c.1346T>A (p.Ile449Asn) c.1400T>A (p.Ile467Asn) c.1316T>A (p.Ile439Asn) c.1538T>A (p.Ile513Asn) c.1439T>A (p.Ile480Asn) c.1469T>A (p.Ile490Asn) | |
20 | g.44429661T>C | CA409110566 | HNF4A | c.1355T>C (p.Ile452Thr) c.1421T>C (p.Ile474Thr) c.*1188T>C (n.*1188T>C) c.1391T>C (p.Ile464Thr) c.1325T>C (p.Ile442Thr) c.1346T>C (p.Ile449Thr) c.1400T>C (p.Ile467Thr) c.1316T>C (p.Ile439Thr) c.1538T>C (p.Ile513Thr) c.1439T>C (p.Ile480Thr) c.1469T>C (p.Ile490Thr) | |
20 | g.44429661T>G | CA409110567 | HNF4A | c.1355T>G (p.Ile452Ser) c.1421T>G (p.Ile474Ser) c.*1188T>G (n.*1188T>G) c.1391T>G (p.Ile464Ser) c.1325T>G (p.Ile442Ser) c.1346T>G (p.Ile449Ser) c.1400T>G (p.Ile467Ser) c.1316T>G (p.Ile439Ser) c.1538T>G (p.Ile513Ser) c.1439T>G (p.Ile480Ser) c.1469T>G (p.Ile490Ser) | |
20 | g.44429662C>A | CA510583520 | HNF4A | c.1356C>A (p.Ile452=) c.1422C>A (p.Ile474=) c.*1189C>A (n.*1189C>A) c.1392C>A (p.Ile464=) c.1326C>A (p.Ile442=) c.1347C>A (p.Ile449=) c.1401C>A (p.Ile467=) c.1317C>A (p.Ile439=) c.1539C>A (p.Ile513=) c.1440C>A (p.Ile480=) c.1470C>A (p.Ile490=) | COSMIC COSMIC |
20 | g.44429662C>G | CA409110568 | HNF4A | c.1356C>G (p.Ile452Met) c.1422C>G (p.Ile474Met) c.*1189C>G (n.*1189C>G) c.1392C>G (p.Ile464Met) c.1326C>G (p.Ile442Met) c.1347C>G (p.Ile449Met) c.1401C>G (p.Ile467Met) c.1317C>G (p.Ile439Met) c.1539C>G (p.Ile513Met) c.1440C>G (p.Ile480Met) c.1470C>G (p.Ile490Met) | |
20 | g.44429662C>T | CA510583521 | HNF4A | c.1356C>T (p.Ile452=) c.1422C>T (p.Ile474=) c.*1189C>T (n.*1189C>T) c.1392C>T (p.Ile464=) c.1326C>T (p.Ile442=) c.1347C>T (p.Ile449=) c.1401C>T (p.Ile467=) c.1317C>T (p.Ile439=) c.1539C>T (p.Ile513=) c.1440C>T (p.Ile480=) c.1470C>T (p.Ile490=) | |
20 | g.44429663T>A | CA409110569 | HNF4A | c.1357T>A (p.Ter453Lys) c.1423T>A (p.Ter475Lys) c.*1190T>A (n.*1190T>A) c.1393T>A (p.Ter465Lys) c.1327T>A (p.Ter443Lys) c.1348T>A (p.Ter450Lys) c.1402T>A (p.Ter468Lys) c.1318T>A (p.Ter440Lys) c.1540T>A (p.Ter514Lys) c.1441T>A (p.Ter481Lys) c.1471T>A (p.Ter491Lys) | |
20 | g.44429663T>C | CA409110570 | HNF4A | c.1357T>C (p.Ter453Gln) c.1423T>C (p.Ter475Gln) c.*1190T>C (n.*1190T>C) c.1393T>C (p.Ter465Gln) c.1327T>C (p.Ter443Gln) c.1348T>C (p.Ter450Gln) c.1402T>C (p.Ter468Gln) c.1318T>C (p.Ter440Gln) c.1540T>C (p.Ter514Gln) c.1441T>C (p.Ter481Gln) c.1471T>C (p.Ter491Gln) | |
20 | g.44429663T>G | CA409110571 | HNF4A | c.1357T>G (p.Ter453Glu) c.1423T>G (p.Ter475Glu) c.*1190T>G (n.*1190T>G) c.1393T>G (p.Ter465Glu) c.1327T>G (p.Ter443Glu) c.1348T>G (p.Ter450Glu) c.1402T>G (p.Ter468Glu) c.1318T>G (p.Ter440Glu) c.1540T>G (p.Ter514Glu) c.1441T>G (p.Ter481Glu) c.1471T>G (p.Ter491Glu) | |
20 | g.44429664A>C | CA409110572 | HNF4A | c.1358A>C (p.Ter453Ser) c.1424A>C (p.Ter475Ser) c.*1191A>C (n.*1191A>C) c.1394A>C (p.Ter465Ser) c.1328A>C (p.Ter443Ser) c.1349A>C (p.Ter450Ser) c.1403A>C (p.Ter468Ser) c.1319A>C (p.Ter440Ser) c.1541A>C (p.Ter514Ser) c.1442A>C (p.Ter481Ser) c.1472A>C (p.Ter491Ser) | |
20 | g.44429664A>G | CA409110573 | HNF4A | c.1358A>G (p.Ter453Trp) c.1424A>G (p.Ter475Trp) c.*1191A>G (n.*1191A>G) c.1394A>G (p.Ter465Trp) c.1328A>G (p.Ter443Trp) c.1349A>G (p.Ter450Trp) c.1403A>G (p.Ter468Trp) c.1319A>G (p.Ter440Trp) c.1541A>G (p.Ter514Trp) c.1442A>G (p.Ter481Trp) c.1472A>G (p.Ter491Trp) | |
20 | g.44429664A>T | CA409110574 | HNF4A | c.1358A>T (p.Ter453Leu) c.1424A>T (p.Ter475Leu) c.*1191A>T (n.*1191A>T) c.1394A>T (p.Ter465Leu) c.1328A>T (p.Ter443Leu) c.1349A>T (p.Ter450Leu) c.1403A>T (p.Ter468Leu) c.1319A>T (p.Ter440Leu) c.1541A>T (p.Ter514Leu) c.1442A>T (p.Ter481Leu) c.1472A>T (p.Ter491Leu) | |
20 | g.44429665G>A | CA510583522 | HNF4A | c.1359G>A (p.Ter453=) c.1425G>A (p.Ter475=) c.*1192G>A (n.*1192G>A) c.1395G>A (p.Ter465=) c.1329G>A (p.Ter443=) c.1350G>A (p.Ter450=) c.1404G>A (p.Ter468=) c.1320G>A (p.Ter440=) c.1542G>A (p.Ter514=) c.1443G>A (p.Ter481=) c.1473G>A (p.Ter491=) | gnomAD v4 |
20 | g.44429665G>C | CA409110575 | HNF4A | c.1359G>C (p.Ter453Tyr) c.1425G>C (p.Ter475Tyr) c.*1192G>C (n.*1192G>C) c.1395G>C (p.Ter465Tyr) c.1329G>C (p.Ter443Tyr) c.1350G>C (p.Ter450Tyr) c.1404G>C (p.Ter468Tyr) c.1320G>C (p.Ter440Tyr) c.1542G>C (p.Ter514Tyr) c.1443G>C (p.Ter481Tyr) c.1473G>C (p.Ter491Tyr) | |
20 | g.44429665G>T | CA409110576 | HNF4A | c.1359G>T (p.Ter453Tyr) c.1425G>T (p.Ter475Tyr) c.*1192G>T (n.*1192G>T) c.1395G>T (p.Ter465Tyr) c.1329G>T (p.Ter443Tyr) c.1350G>T (p.Ter450Tyr) c.1404G>T (p.Ter468Tyr) c.1320G>T (p.Ter440Tyr) c.1542G>T (p.Ter514Tyr) c.1443G>T (p.Ter481Tyr) c.1473G>T (p.Ter491Tyr) |