Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.43946316T>A | CA411847959 | PNPLA3 | c.1380T>A (p.Asn460Lys) c.*849+1521T>A (n.*849+1521T>A) c.1368T>A (p.Asn456Lys) | |
22 | g.43946316T>C | CA515082948 | PNPLA3 | c.1380T>C (p.Asn460=) c.*849+1521T>C (n.*849+1521T>C) c.1368T>C (p.Asn456=) | |
22 | g.43946316T>G | CA411847961 | PNPLA3 | c.1380T>G (p.Asn460Lys) c.*849+1521T>G (n.*849+1521T>G) c.1368T>G (p.Asn456Lys) | |
22 | g.43946317A>C | CA411847966 | PNPLA3 | c.1381A>C (p.Lys461Gln) c.*849+1522A>C (n.*849+1522A>C) c.1369A>C (p.Lys457Gln) | |
22 | g.43946317A>G | CA411847963 | PNPLA3 | c.1381A>G (p.Lys461Glu) c.*849+1522A>G (n.*849+1522A>G) c.1369A>G (p.Lys457Glu) | |
22 | g.43946317A>T | CA411847964 | PNPLA3 | c.1381A>T (p.Lys461Ter) c.*849+1522A>T (n.*849+1522A>T) c.1369A>T (p.Lys457Ter) | |
22 | g.43946318A>C | CA411847968 | PNPLA3 | c.1382A>C (p.Lys461Thr) c.*849+1523A>C (n.*849+1523A>C) c.1370A>C (p.Lys457Thr) | |
22 | g.43946318A>G | CA411847970 | PNPLA3 | c.1382A>G (p.Lys461Arg) c.*849+1523A>G (n.*849+1523A>G) c.1370A>G (p.Lys457Arg) | COSMIC |
22 | g.43946318A>T | CA411847972 | PNPLA3 | c.1382A>T (p.Lys461Ile) c.*849+1523A>T (n.*849+1523A>T) c.1370A>T (p.Lys457Ile) | |
22 | g.43946319A>C | CA411847973 | PNPLA3 | c.1383A>C (p.Lys461Asn) c.*849+1524A>C (n.*849+1524A>C) c.1371A>C (p.Lys457Asn) | |
22 | g.43946319A>G | CA515082960 | PNPLA3 | c.1383A>G (p.Lys461=) c.*849+1524A>G (n.*849+1524A>G) c.1371A>G (p.Lys457=) | |
22 | g.43946319A>T | CA411847974 | PNPLA3 | c.1383A>T (p.Lys461Asn) c.*849+1524A>T (n.*849+1524A>T) c.1371A>T (p.Lys457Asn) | |
22 | g.43946320G>A | CA10278274 | PNPLA3 | c.1384G>A (p.Val462Ile) c.*849+1525G>A (n.*849+1525G>A) c.1372G>A (p.Val458Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946320G>C | CA411847978 | PNPLA3 | c.1384G>C (p.Val462Leu) c.*849+1525G>C (n.*849+1525G>C) c.1372G>C (p.Val458Leu) | |
22 | g.43946320G= | CA2407489710 | PNPLA3 | c.1384G= (p.Val462=) c.*849+1525G= (n.*849+1525G=) c.1372G= (p.Val458=) | |
22 | g.43946320G>T | CA411847976 | PNPLA3 | c.1384G>T (p.Val462Leu) c.*849+1525G>T (n.*849+1525G>T) c.1372G>T (p.Val458Leu) | |
22 | g.43946321T>A | CA411847980 | PNPLA3 | c.1385T>A (p.Val462Glu) c.*849+1526T>A (n.*849+1526T>A) c.1373T>A (p.Val458Glu) | |
22 | g.43946321T>C | CA411847981 | PNPLA3 | c.1385T>C (p.Val462Ala) c.*849+1526T>C (n.*849+1526T>C) c.1373T>C (p.Val458Ala) | |
22 | g.43946321T>G | CA411847982 | PNPLA3 | c.1385T>G (p.Val462Gly) c.*849+1526T>G (n.*849+1526T>G) c.1373T>G (p.Val458Gly) | |
22 | g.43946322A>C | CA515082974 | PNPLA3 | c.1386A>C (p.Val462=) c.*849+1527A>C (n.*849+1527A>C) c.1374A>C (p.Val458=) | |
22 | g.43946322A>G | CA515082976 | PNPLA3 | c.1386A>G (p.Val462=) c.*849+1527A>G (n.*849+1527A>G) c.1374A>G (p.Val458=) | |
22 | g.43946322A>T | CA515082977 | PNPLA3 | c.1386A>T (p.Val462=) c.*849+1527A>T (n.*849+1527A>T) c.1374A>T (p.Val458=) | |
22 | g.43946322_43946323del | CA2577772141 | PNPLA3 | c.1386_1387del (p.Pro463CysfsTer4) c.*849+1527_*849+1528del (n.*849+1527_*849+1528del) c.1374_1375del (p.Pro459CysfsTer4) | |
22 | g.43946323C>A | CA411847985 | PNPLA3 | c.1387C>A (p.Pro463Thr) c.*849+1528C>A (n.*849+1528C>A) c.1375C>A (p.Pro459Thr) | |
22 | g.43946323C>G | CA411847986 | PNPLA3 | c.1387C>G (p.Pro463Ala) c.*849+1528C>G (n.*849+1528C>G) c.1375C>G (p.Pro459Ala) | |
22 | g.43946323C>T | CA411847987 | PNPLA3 | c.1387C>T (p.Pro463Ser) c.*849+1528C>T (n.*849+1528C>T) c.1375C>T (p.Pro459Ser) | gnomAD v4 |
22 | g.43946324C>A | CA411847992 | PNPLA3 | c.1388C>A (p.Pro463His) c.*849+1529C>A (n.*849+1529C>A) c.1376C>A (p.Pro459His) | gnomAD v4 |
22 | g.43946324C>G | CA411847989 | PNPLA3 | c.1388C>G (p.Pro463Arg) c.*849+1529C>G (n.*849+1529C>G) c.1376C>G (p.Pro459Arg) | |
22 | g.43946324C>T | CA411847990 | PNPLA3 | c.1388C>T (p.Pro463Leu) c.*849+1529C>T (n.*849+1529C>T) c.1376C>T (p.Pro459Leu) | |
22 | g.43946325T>A | CA515082986 | PNPLA3 | c.1389T>A (p.Pro463=) c.*849+1530T>A (n.*849+1530T>A) c.1377T>A (p.Pro459=) | |
22 | g.43946325T>C | CA515082988 | PNPLA3 | c.1389T>C (p.Pro463=) c.*849+1530T>C (n.*849+1530T>C) c.1377T>C (p.Pro459=) | |
22 | g.43946325T>G | CA515083002 | PNPLA3 | c.1389T>G (p.Pro463=) c.*849+1530T>G (n.*849+1530T>G) c.1377T>G (p.Pro459=) | |
22 | g.43946326G>A | CA411847994 | PNPLA3 | c.1390G>A (p.Ala464Thr) c.*849+1531G>A (n.*849+1531G>A) c.1378G>A (p.Ala460Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946326G>C | CA411847995 | PNPLA3 | c.1390G>C (p.Ala464Pro) c.*849+1531G>C (n.*849+1531G>C) c.1378G>C (p.Ala460Pro) | |
22 | g.43946326G= | CA2407489711 | PNPLA3 | c.1390G= (p.Ala464=) c.*849+1531G= (n.*849+1531G=) c.1378G= (p.Ala460=) | |
22 | g.43946326G>T | CA411847997 | PNPLA3 | c.1390G>T (p.Ala464Ser) c.*849+1531G>T (n.*849+1531G>T) c.1378G>T (p.Ala460Ser) | |
22 | g.43946327C>A | CA411847999 | PNPLA3 | c.1391C>A (p.Ala464Asp) c.*849+1532C>A (n.*849+1532C>A) c.1379C>A (p.Ala460Asp) | |
22 | g.43946327C>G | CA411848000 | PNPLA3 | c.1391C>G (p.Ala464Gly) c.*849+1532C>G (n.*849+1532C>G) c.1379C>G (p.Ala460Gly) | |
22 | g.43946327C>T | CA411848002 | PNPLA3 | c.1391C>T (p.Ala464Val) c.*849+1532C>T (n.*849+1532C>T) c.1379C>T (p.Ala460Val) | |
22 | g.43946328T>A | CA515083014 | PNPLA3 | c.1392T>A (p.Ala464=) c.*849+1533T>A (n.*849+1533T>A) c.1380T>A (p.Ala460=) | |
22 | g.43946328T>C | CA515083016 | PNPLA3 | c.1392T>C (p.Ala464=) c.*849+1533T>C (n.*849+1533T>C) c.1380T>C (p.Ala460=) | |
22 | g.43946328T>G | CA515083019 | PNPLA3 | c.1392T>G (p.Ala464=) c.*849+1533T>G (n.*849+1533T>G) c.1380T>G (p.Ala460=) | gnomAD v4 |
22 | g.43946329G>A | CA324869418 | PNPLA3 | c.1393G>A (p.Gly465Ser) c.*849+1534G>A (n.*849+1534G>A) c.1381G>A (p.Gly461Ser) | dbSNP |
22 | g.43946329G>C | CA411848005 | PNPLA3 | c.1393G>C (p.Gly465Arg) c.*849+1534G>C (n.*849+1534G>C) c.1381G>C (p.Gly461Arg) | |
22 | g.43946329G= | CA2407489712 | PNPLA3 | c.1393G= (p.Gly465=) c.*849+1534G= (n.*849+1534G=) c.1381G= (p.Gly461=) | |
22 | g.43946329G>T | CA411848007 | PNPLA3 | c.1393G>T (p.Gly465Cys) c.*849+1534G>T (n.*849+1534G>T) c.1381G>T (p.Gly461Cys) | |
22 | g.43946330G>A | CA411848008 | PNPLA3 | c.1394G>A (p.Gly465Asp) c.*849+1535G>A (n.*849+1535G>A) c.1382G>A (p.Gly461Asp) | |
22 | g.43946330G>C | CA411848010 | PNPLA3 | c.1394G>C (p.Gly465Ala) c.*849+1535G>C (n.*849+1535G>C) c.1382G>C (p.Gly461Ala) | |
22 | g.43946330G>T | CA411848011 | PNPLA3 | c.1394G>T (p.Gly465Val) c.*849+1535G>T (n.*849+1535G>T) c.1382G>T (p.Gly461Val) | gnomAD v4 |
22 | g.43946331T>A | CA515083032 | PNPLA3 | c.1395T>A (p.Gly465=) c.*849+1536T>A (n.*849+1536T>A) c.1383T>A (p.Gly461=) | |
22 | g.43946331T>C | CA515083035 | PNPLA3 | c.1395T>C (p.Gly465=) c.*849+1536T>C (n.*849+1536T>C) c.1383T>C (p.Gly461=) | |
22 | g.43946331T>G | CA515083031 | PNPLA3 | c.1395T>G (p.Gly465=) c.*849+1536T>G (n.*849+1536T>G) c.1383T>G (p.Gly461=) | |
22 | g.43946332G>A | CA411848014 | PNPLA3 | c.1396G>A (p.Ala466Thr) c.*849+1537G>A (n.*849+1537G>A) c.1384G>A (p.Ala462Thr) | |
22 | g.43946332G>C | CA411848015 | PNPLA3 | c.1396G>C (p.Ala466Pro) c.*849+1537G>C (n.*849+1537G>C) c.1384G>C (p.Ala462Pro) | |
22 | g.43946332G= | CA2407489713 | PNPLA3 | c.1396G= (p.Ala466=) c.*849+1537G= (n.*849+1537G=) c.1384G= (p.Ala462=) | |
22 | g.43946332G>T | CA10278275 | PNPLA3 | c.1396G>T (p.Ala466Ser) c.*849+1537G>T (n.*849+1537G>T) c.1384G>T (p.Ala462Ser) | dbSNP ExAC gnomAD v2 |
22 | g.43946333C>A | CA411848017 | PNPLA3 | c.1397C>A (p.Ala466Asp) c.*849+1538C>A (n.*849+1538C>A) c.1385C>A (p.Ala462Asp) | |
22 | g.43946333C= | CA2407489714 | PNPLA3 | c.1397C= (p.Ala466=) c.*849+1538C= (n.*849+1538C=) c.1385C= (p.Ala462=) | |
22 | g.43946333C>G | CA411848019 | PNPLA3 | c.1397C>G (p.Ala466Gly) c.*849+1538C>G (n.*849+1538C>G) c.1385C>G (p.Ala462Gly) | dbSNP gnomAD v4 |
22 | g.43946333C>T | CA324869419 | PNPLA3 | c.1397C>T (p.Ala466Val) c.*849+1538C>T (n.*849+1538C>T) c.1385C>T (p.Ala462Val) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.43946334del | CA2738211621 | PNPLA3 | c.1398del (p.Glu467ArgfsTer11) c.*849+1539del (n.*849+1539del) c.1386del (p.Glu463ArgfsTer11) | dbSNP |
22 | g.43946334T>A | CA515083045 | PNPLA3 | c.1398T>A (p.Ala466=) c.*849+1539T>A (n.*849+1539T>A) c.1386T>A (p.Ala462=) | |
22 | g.43946334T>C | CA515083046 | PNPLA3 | c.1398T>C (p.Ala466=) c.*849+1539T>C (n.*849+1539T>C) c.1386T>C (p.Ala462=) | dbSNP gnomAD v4 |
22 | g.43946334T>G | CA515083048 | PNPLA3 | c.1398T>G (p.Ala466=) c.*849+1539T>G (n.*849+1539T>G) c.1386T>G (p.Ala462=) | |
22 | g.43946334T= | CA2407489715 | PNPLA3 | c.1398T= (p.Ala466=) c.*849+1539T= (n.*849+1539T=) c.1386T= (p.Ala462=) | |
22 | g.43946335G>A | CA411848021 | PNPLA3 | c.1399G>A (p.Glu467Lys) c.*849+1540G>A (n.*849+1540G>A) c.1387G>A (p.Glu463Lys) | |
22 | g.43946335G>C | CA411848023 | PNPLA3 | c.1399G>C (p.Glu467Gln) c.*849+1540G>C (n.*849+1540G>C) c.1387G>C (p.Glu463Gln) | COSMIC |
22 | g.43946335G>T | CA411848025 | PNPLA3 | c.1399G>T (p.Glu467Ter) c.*849+1540G>T (n.*849+1540G>T) c.1387G>T (p.Glu463Ter) | |
22 | g.43946336A>C | CA411848030 | PNPLA3 | c.1400A>C (p.Glu467Ala) c.*849+1541A>C (n.*849+1541A>C) c.1388A>C (p.Glu463Ala) | |
22 | g.43946336A>G | CA411848027 | PNPLA3 | c.1400A>G (p.Glu467Gly) c.*849+1541A>G (n.*849+1541A>G) c.1388A>G (p.Glu463Gly) | |
22 | g.43946336A>T | CA411848028 | PNPLA3 | c.1400A>T (p.Glu467Val) c.*849+1541A>T (n.*849+1541A>T) c.1388A>T (p.Glu463Val) | |
22 | g.43946337G>A | CA515083062 | PNPLA3 | c.1401G>A (p.Glu467=) c.*849+1542G>A (n.*849+1542G>A) c.1389G>A (p.Glu463=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.43946337G>C | CA411848032 | PNPLA3 | c.1401G>C (p.Glu467Asp) c.*849+1542G>C (n.*849+1542G>C) c.1389G>C (p.Glu463Asp) | |
22 | g.43946337G= | CA2407489716 | PNPLA3 | c.1401G= (p.Glu467=) c.*849+1542G= (n.*849+1542G=) c.1389G= (p.Glu463=) | |
22 | g.43946337G>T | CA411848034 | PNPLA3 | c.1401G>T (p.Glu467Asp) c.*849+1542G>T (n.*849+1542G>T) c.1389G>T (p.Glu463Asp) | |
22 | g.43946338G>A | CA411848035 | PNPLA3 | c.1402G>A (p.Gly468Arg) c.*849+1543G>A (n.*849+1543G>A) c.1390G>A (p.Gly464Arg) | COSMIC |
22 | g.43946338G>C | CA411848036 | PNPLA3 | c.1402G>C (p.Gly468Arg) c.*849+1543G>C (n.*849+1543G>C) c.1390G>C (p.Gly464Arg) | |
22 | g.43946338G>T | CA411848038 | PNPLA3 | c.1402G>T (p.Gly468Trp) c.*849+1543G>T (n.*849+1543G>T) c.1390G>T (p.Gly464Trp) | |
22 | g.43946339G>A | CA411848043 | PNPLA3 | c.1403G>A (p.Gly468Glu) c.*849+1544G>A (n.*849+1544G>A) c.1391G>A (p.Gly464Glu) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.43946339G>C | CA411848040 | PNPLA3 | c.1403G>C (p.Gly468Ala) c.*849+1544G>C (n.*849+1544G>C) c.1391G>C (p.Gly464Ala) | |
22 | g.43946339G= | CA2407489717 | PNPLA3 | c.1403G= (p.Gly468=) c.*849+1544G= (n.*849+1544G=) c.1391G= (p.Gly464=) | |
22 | g.43946339G>T | CA411848042 | PNPLA3 | c.1403G>T (p.Gly468Val) c.*849+1544G>T (n.*849+1544G>T) c.1391G>T (p.Gly464Val) | gnomAD v4 |
22 | g.43946340G>A | CA515083072 | PNPLA3 | c.1404G>A (p.Gly468=) c.*849+1545G>A (n.*849+1545G>A) c.1392G>A (p.Gly464=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946340G>C | CA515083074 | PNPLA3 | c.1404G>C (p.Gly468=) c.*849+1545G>C (n.*849+1545G>C) c.1392G>C (p.Gly464=) | |
22 | g.43946340G= | CA2407489718 | PNPLA3 | c.1404G= (p.Gly468=) c.*849+1545G= (n.*849+1545G=) c.1392G= (p.Gly464=) | |
22 | g.43946340G>T | CA515083077 | PNPLA3 | c.1404G>T (p.Gly468=) c.*849+1545G>T (n.*849+1545G>T) c.1392G>T (p.Gly464=) | |
22 | g.43946341C>A | CA411848045 | PNPLA3 | c.1405C>A (p.Leu469Ile) c.*849+1546C>A (n.*849+1546C>A) c.1393C>A (p.Leu465Ile) | |
22 | g.43946341C>G | CA411848047 | PNPLA3 | c.1405C>G (p.Leu469Val) c.*849+1546C>G (n.*849+1546C>G) c.1393C>G (p.Leu465Val) | |
22 | g.43946341C>T | CA411848049 | PNPLA3 | c.1405C>T (p.Leu469Phe) c.*849+1546C>T (n.*849+1546C>T) c.1393C>T (p.Leu465Phe) | gnomAD v4 |
22 | g.43946342T>A | CA411848051 | PNPLA3 | c.1406T>A (p.Leu469His) c.*849+1547T>A (n.*849+1547T>A) c.1394T>A (p.Leu465His) | gnomAD v4 |
22 | g.43946342T>C | CA411848052 | PNPLA3 | c.1406T>C (p.Leu469Pro) c.*849+1547T>C (n.*849+1547T>C) c.1394T>C (p.Leu465Pro) | |
22 | g.43946342T>G | CA411848054 | PNPLA3 | c.1406T>G (p.Leu469Arg) c.*849+1547T>G (n.*849+1547T>G) c.1394T>G (p.Leu465Arg) | |
22 | g.43946343C>A | CA515083087 | PNPLA3 | c.1407C>A (p.Leu469=) c.*849+1548C>A (n.*849+1548C>A) c.1395C>A (p.Leu465=) | |
22 | g.43946343C>G | CA515083089 | PNPLA3 | c.1407C>G (p.Leu469=) c.*849+1548C>G (n.*849+1548C>G) c.1395C>G (p.Leu465=) | |
22 | g.43946343C>T | CA515083091 | PNPLA3 | c.1407C>T (p.Leu469=) c.*849+1548C>T (n.*849+1548C>T) c.1395C>T (p.Leu465=) | |
22 | g.43946344T>A | CA411848056 | PNPLA3 | c.1408T>A (p.Ser470Thr) c.*849+1549T>A (n.*849+1549T>A) c.1396T>A (p.Ser466Thr) | |
22 | g.43946344T>C | CA411848057 | PNPLA3 | c.1408T>C (p.Ser470Pro) c.*849+1549T>C (n.*849+1549T>C) c.1396T>C (p.Ser466Pro) | |
22 | g.43946344T>G | CA10278276 | PNPLA3 | c.1408T>G (p.Ser470Ala) c.*849+1549T>G (n.*849+1549T>G) c.1396T>G (p.Ser466Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.43946344T= | CA2407489719 | PNPLA3 | c.1408T= (p.Ser470=) c.*849+1549T= (n.*849+1549T=) c.1396T= (p.Ser466=) | |
22 | g.43946345C>A | CA411848060 | PNPLA3 | c.1409C>A (p.Ser470Tyr) c.*849+1550C>A (n.*849+1550C>A) c.1397C>A (p.Ser466Tyr) | |
22 | g.43946345C= | CA2407489720 | PNPLA3 | c.1409C= (p.Ser470=) c.*849+1550C= (n.*849+1550C=) c.1397C= (p.Ser466=) | |
22 | g.43946345C>G | CA411848062 | PNPLA3 | c.1409C>G (p.Ser470Cys) c.*849+1550C>G (n.*849+1550C>G) c.1397C>G (p.Ser466Cys) | |
22 | g.43946345C>T | CA411848063 | PNPLA3 | c.1409C>T (p.Ser470Phe) c.*849+1550C>T (n.*849+1550C>T) c.1397C>T (p.Ser466Phe) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.43946346C>A | CA515083102 | PNPLA3 | c.1410C>A (p.Ser470=) c.*849+1551C>A (n.*849+1551C>A) c.1398C>A (p.Ser466=) | |
22 | g.43946346C= | CA2407489721 | PNPLA3 | c.1410C= (p.Ser470=) c.*849+1551C= (n.*849+1551C=) c.1398C= (p.Ser466=) | |
22 | g.43946346C>G | CA515083104 | PNPLA3 | c.1410C>G (p.Ser470=) c.*849+1551C>G (n.*849+1551C>G) c.1398C>G (p.Ser466=) | |
22 | g.43946346C>T | CA515083106 | PNPLA3 | c.1410C>T (p.Ser470=) c.*849+1551C>T (n.*849+1551C>T) c.1398C>T (p.Ser466=) | dbSNP gnomAD v4 |
22 | g.43946347A>C | CA411848064 | PNPLA3 | c.1411A>C (p.Thr471Pro) c.*849+1552A>C (n.*849+1552A>C) c.1399A>C (p.Thr467Pro) | |
22 | g.43946347A>G | CA411848068 | PNPLA3 | c.1411A>G (p.Thr471Ala) c.*849+1552A>G (n.*849+1552A>G) c.1399A>G (p.Thr467Ala) | |
22 | g.43946347A>T | CA411848066 | PNPLA3 | c.1411A>T (p.Thr471Ser) c.*849+1552A>T (n.*849+1552A>T) c.1399A>T (p.Thr467Ser) | |
22 | g.43946348C>A | CA411848069 | PNPLA3 | c.1412C>A (p.Thr471Asn) c.*849+1553C>A (n.*849+1553C>A) c.1400C>A (p.Thr467Asn) | |
22 | g.43946348C>G | CA411848071 | PNPLA3 | c.1412C>G (p.Thr471Ser) c.*849+1553C>G (n.*849+1553C>G) c.1400C>G (p.Thr467Ser) | |
22 | g.43946348C>T | CA411848072 | PNPLA3 | c.1412C>T (p.Thr471Ile) c.*849+1553C>T (n.*849+1553C>T) c.1400C>T (p.Thr467Ile) | gnomAD v4 |
22 | g.43946349C>A | CA515083121 | PNPLA3 | c.1413C>A (p.Thr471=) c.*849+1554C>A (n.*849+1554C>A) c.1401C>A (p.Thr467=) | gnomAD v4 |
22 | g.43946349C>G | CA515083122 | PNPLA3 | c.1413C>G (p.Thr471=) c.*849+1554C>G (n.*849+1554C>G) c.1401C>G (p.Thr467=) | |
22 | g.43946349C>T | CA515083123 | PNPLA3 | c.1413C>T (p.Thr471=) c.*849+1554C>T (n.*849+1554C>T) c.1401C>T (p.Thr467=) | gnomAD v3 gnomAD v4 |
22 | g.43946350T>A | CA411848075 | PNPLA3 | c.1414T>A (p.Phe472Ile) c.*849+1555T>A (n.*849+1555T>A) c.1402T>A (p.Phe468Ile) | |
22 | g.43946350T>C | CA411848076 | PNPLA3 | c.1414T>C (p.Phe472Leu) c.*849+1555T>C (n.*849+1555T>C) c.1402T>C (p.Phe468Leu) | |
22 | g.43946350T>G | CA411848078 | PNPLA3 | c.1414T>G (p.Phe472Val) c.*849+1555T>G (n.*849+1555T>G) c.1402T>G (p.Phe468Val) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.43946350T= | CA2407489722 | PNPLA3 | c.1414T= (p.Phe472=) c.*849+1555T= (n.*849+1555T=) c.1402T= (p.Phe468=) | |
22 | g.43946351T>A | CA411848080 | PNPLA3 | c.1415T>A (p.Phe472Tyr) c.*849+1556T>A (n.*849+1556T>A) c.1403T>A (p.Phe468Tyr) | |
22 | g.43946351T>C | CA411848081 | PNPLA3 | c.1415T>C (p.Phe472Ser) c.*849+1556T>C (n.*849+1556T>C) c.1403T>C (p.Phe468Ser) | |
22 | g.43946351T>G | CA411848083 | PNPLA3 | c.1415T>G (p.Phe472Cys) c.*849+1556T>G (n.*849+1556T>G) c.1403T>G (p.Phe468Cys) | |
22 | g.43946352T>A | CA411848085 | PNPLA3 | c.1416T>A (p.Phe472Leu) c.*849+1557T>A (n.*849+1557T>A) c.1404T>A (p.Phe468Leu) | |
22 | g.43946352T>C | CA515083137 | PNPLA3 | c.1416T>C (p.Phe472=) c.*849+1557T>C (n.*849+1557T>C) c.1404T>C (p.Phe468=) | |
22 | g.43946352T>G | CA411848087 | PNPLA3 | c.1416T>G (p.Phe472Leu) c.*849+1557T>G (n.*849+1557T>G) c.1404T>G (p.Phe468Leu) | |
22 | g.43946353C>A | CA411848090 | PNPLA3 | c.1417C>A (p.Pro473Thr) c.*849+1558C>A (n.*849+1558C>A) c.1405C>A (p.Pro469Thr) | |
22 | g.43946353C>G | CA411848089 | PNPLA3 | c.1417C>G (p.Pro473Ala) c.*849+1558C>G (n.*849+1558C>G) c.1405C>G (p.Pro469Ala) | |
22 | g.43946353C>T | CA411848088 | PNPLA3 | c.1417C>T (p.Pro473Ser) c.*849+1558C>T (n.*849+1558C>T) c.1405C>T (p.Pro469Ser) | COSMIC |
22 | g.43946354C>A | CA411848092 | PNPLA3 | c.1418C>A (p.Pro473His) c.*849+1559C>A (n.*849+1559C>A) c.1406C>A (p.Pro469His) | |
22 | g.43946354C= | CA2407489723 | PNPLA3 | c.1418C= (p.Pro473=) c.*849+1559C= (n.*849+1559C=) c.1406C= (p.Pro469=) | |
22 | g.43946354C>G | CA411848094 | PNPLA3 | c.1418C>G (p.Pro473Arg) c.*849+1559C>G (n.*849+1559C>G) c.1406C>G (p.Pro469Arg) | |
22 | g.43946354C>T | CA10278277 | PNPLA3 | c.1418C>T (p.Pro473Leu) c.*849+1559C>T (n.*849+1559C>T) c.1406C>T (p.Pro469Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946355C>A | CA515083153 | PNPLA3 | c.1419C>A (p.Pro473=) c.*849+1560C>A (n.*849+1560C>A) c.1407C>A (p.Pro469=) | |
22 | g.43946355C= | CA2407489724 | PNPLA3 | c.1419C= (p.Pro473=) c.*849+1560C= (n.*849+1560C=) c.1407C= (p.Pro469=) | |
22 | g.43946355C>G | CA515083156 | PNPLA3 | c.1419C>G (p.Pro473=) c.*849+1560C>G (n.*849+1560C>G) c.1407C>G (p.Pro469=) | COSMIC |
22 | g.43946355C>T | CA10278278 | PNPLA3 | c.1419C>T (p.Pro473=) c.*849+1560C>T (n.*849+1560C>T) c.1407C>T (p.Pro469=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946356A>C | CA411848100 | PNPLA3 | c.1420A>C (p.Ser474Arg) c.*849+1561A>C (n.*849+1561A>C) c.1408A>C (p.Ser470Arg) | |
22 | g.43946356A>G | CA411848101 | PNPLA3 | c.1420A>G (p.Ser474Gly) c.*849+1561A>G (n.*849+1561A>G) c.1408A>G (p.Ser470Gly) | |
22 | g.43946356A>T | CA411848103 | PNPLA3 | c.1420A>T (p.Ser474Cys) c.*849+1561A>T (n.*849+1561A>T) c.1408A>T (p.Ser470Cys) | |
22 | g.43946356_43946357insCTAGAGAAGA | CA2657154795 | PNPLA3 | c.1420_1421insCTAGAGAAGA (p.Ser474ThrfsTer20) c.*849+1561_*849+1562insCTAGAGAAGA (n.*849+1561_*849+1562insCTAGAGAAGA) c.1408_1409insCTAGAGAAGA (p.Ser470ThrfsTer20) | gnomAD v4 |
22 | g.43946357G>A | CA411848104 | PNPLA3 | c.1421G>A (p.Ser474Asn) c.*849+1562G>A (n.*849+1562G>A) c.1409G>A (p.Ser470Asn) | |
22 | g.43946357G>C | CA411848105 | PNPLA3 | c.1421G>C (p.Ser474Thr) c.*849+1562G>C (n.*849+1562G>C) c.1409G>C (p.Ser470Thr) | gnomAD v4 |
22 | g.43946357G>T | CA411848106 | PNPLA3 | c.1421G>T (p.Ser474Ile) c.*849+1562G>T (n.*849+1562G>T) c.1409G>T (p.Ser470Ile) | |
22 | g.43946358T>A | CA411848107 | PNPLA3 | c.1422T>A (p.Ser474Arg) c.*849+1563T>A (n.*849+1563T>A) c.1410T>A (p.Ser470Arg) | |
22 | g.43946358T>C | CA515083172 | PNPLA3 | c.1422T>C (p.Ser474=) c.*849+1563T>C (n.*849+1563T>C) c.1410T>C (p.Ser470=) | dbSNP |
22 | g.43946358T>G | CA411848109 | PNPLA3 | c.1422T>G (p.Ser474Arg) c.*849+1563T>G (n.*849+1563T>G) c.1410T>G (p.Ser470Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946358T= | CA2407489725 | PNPLA3 | c.1422T= (p.Ser474=) c.*849+1563T= (n.*849+1563T=) c.1410T= (p.Ser470=) | |
22 | g.43946358_43946359insC | CA2657154796 | PNPLA3 | c.1422_1423insC (p.Phe475LeufsTer16) c.*849+1563_*849+1564insC (n.*849+1563_*849+1564insC) c.1410_1411insC (p.Phe471LeufsTer16) | gnomAD v4 |
22 | g.43946359T>A | CA411848118 | PNPLA3 | c.1423T>A (p.Phe475Ile) c.*849+1564T>A (n.*849+1564T>A) c.1411T>A (p.Phe471Ile) | |
22 | g.43946359T>C | CA411848113 | PNPLA3 | c.1423T>C (p.Phe475Leu) c.*849+1564T>C (n.*849+1564T>C) c.1411T>C (p.Phe471Leu) | |
22 | g.43946359T>G | CA411848111 | PNPLA3 | c.1423T>G (p.Phe475Val) c.*849+1564T>G (n.*849+1564T>G) c.1411T>G (p.Phe471Val) | |
22 | g.43946360T>A | CA411848120 | PNPLA3 | c.1424T>A (p.Phe475Tyr) c.*849+1565T>A (n.*849+1565T>A) c.1412T>A (p.Phe471Tyr) | |
22 | g.43946360T>C | CA411848129 | PNPLA3 | c.1424T>C (p.Phe475Ser) c.*849+1565T>C (n.*849+1565T>C) c.1412T>C (p.Phe471Ser) | gnomAD v4 |
22 | g.43946360T>G | CA411848127 | PNPLA3 | c.1424T>G (p.Phe475Cys) c.*849+1565T>G (n.*849+1565T>G) c.1412T>G (p.Phe471Cys) | |
22 | g.43946361T>A | CA411848131 | PNPLA3 | c.1425T>A (p.Phe475Leu) c.*849+1566T>A (n.*849+1566T>A) c.1413T>A (p.Phe471Leu) | |
22 | g.43946361T>C | CA515083184 | PNPLA3 | c.1425T>C (p.Phe475=) c.*849+1566T>C (n.*849+1566T>C) c.1413T>C (p.Phe471=) | |
22 | g.43946361T>G | CA411848132 | PNPLA3 | c.1425T>G (p.Phe475Leu) c.*849+1566T>G (n.*849+1566T>G) c.1413T>G (p.Phe471Leu) | |
22 | g.43946362T>A | CA411848134 | PNPLA3 | c.1426T>A (p.Ser476Thr) c.*849+1567T>A (n.*849+1567T>A) c.1414T>A (p.Ser472Thr) | |
22 | g.43946362T>C | CA411848137 | PNPLA3 | c.1426T>C (p.Ser476Pro) c.*849+1567T>C (n.*849+1567T>C) c.1414T>C (p.Ser472Pro) | |
22 | g.43946362T>G | CA10278279 | PNPLA3 | c.1426T>G (p.Ser476Ala) c.*849+1567T>G (n.*849+1567T>G) c.1414T>G (p.Ser472Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.43946362T= | CA2407489726 | PNPLA3 | c.1426T= (p.Ser476=) c.*849+1567T= (n.*849+1567T=) c.1414T= (p.Ser472=) | |
22 | g.43946363C>A | CA411848139 | PNPLA3 | c.1427C>A (p.Ser476Ter) c.*849+1568C>A (n.*849+1568C>A) c.1415C>A (p.Ser472Ter) | |
22 | g.43946363C>G | CA411848142 | PNPLA3 | c.1427C>G (p.Ser476Ter) c.*849+1568C>G (n.*849+1568C>G) c.1415C>G (p.Ser472Ter) | |
22 | g.43946363C>T | CA411848140 | PNPLA3 | c.1427C>T (p.Ser476Leu) c.*849+1568C>T (n.*849+1568C>T) c.1415C>T (p.Ser472Leu) | |
22 | g.43946363_43946364insCC | CA2657154797 | PNPLA3 | c.1427_1428insCC (p.Leu477HisfsTer2) c.*849+1568_*849+1569insCC (n.*849+1568_*849+1569insCC) c.1415_1416insCC (p.Leu473HisfsTer2) | gnomAD v4 |
22 | g.43946364A= | CA2407489727 | PNPLA3 | c.1428A= (p.Ser476=) c.*849+1569A= (n.*849+1569A=) c.1416A= (p.Ser472=) | |
22 | g.43946364A>C | CA515083207 | PNPLA3 | c.1428A>C (p.Ser476=) c.*849+1569A>C (n.*849+1569A>C) c.1416A>C (p.Ser472=) | |
22 | g.43946364A>G | CA515083210 | PNPLA3 | c.1428A>G (p.Ser476=) c.*849+1569A>G (n.*849+1569A>G) c.1416A>G (p.Ser472=) | |
22 | g.43946364A>T | CA515083214 | PNPLA3 | c.1428A>T (p.Ser476=) c.*849+1569A>T (n.*849+1569A>T) c.1416A>T (p.Ser472=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.43946365C>A | CA411848144 | PNPLA3 | c.1429C>A (p.Leu477Ile) c.*849+1570C>A (n.*849+1570C>A) c.1417C>A (p.Leu473Ile) | |
22 | g.43946365C>G | CA411848145 | PNPLA3 | c.1429C>G (p.Leu477Val) c.*849+1570C>G (n.*849+1570C>G) c.1417C>G (p.Leu473Val) | |
22 | g.43946365C>T | CA515083217 | PNPLA3 | c.1429C>T (p.Leu477=) c.*849+1570C>T (n.*849+1570C>T) c.1417C>T (p.Leu473=) | |
22 | g.43946366T>A | CA411848147 | PNPLA3 | c.1430T>A (p.Leu477Gln) c.*849+1571T>A (n.*849+1571T>A) c.1418T>A (p.Leu473Gln) | |
22 | g.43946366T>C | CA411848150 | PNPLA3 | c.1430T>C (p.Leu477Pro) c.*849+1571T>C (n.*849+1571T>C) c.1418T>C (p.Leu473Pro) | |
22 | g.43946366T>G | CA411848148 | PNPLA3 | c.1430T>G (p.Leu477Arg) c.*849+1571T>G (n.*849+1571T>G) c.1418T>G (p.Leu473Arg) | |
22 | g.43946367A= | CA2407489728 | PNPLA3 | c.1431A= (p.Leu477=) c.*849+1572A= (n.*849+1572A=) c.1419A= (p.Leu473=) | |
22 | g.43946367A>C | CA515083226 | PNPLA3 | c.1431A>C (p.Leu477=) c.*849+1572A>C (n.*849+1572A>C) c.1419A>C (p.Leu473=) | |
22 | g.43946367A>G | CA515083228 | PNPLA3 | c.1431A>G (p.Leu477=) c.*849+1572A>G (n.*849+1572A>G) c.1419A>G (p.Leu473=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946367A>T | CA515083224 | PNPLA3 | c.1431A>T (p.Leu477=) c.*849+1572A>T (n.*849+1572A>T) c.1419A>T (p.Leu473=) | |
22 | g.43946371_43946375del | CA2819114888 | PNPLA3 | c.1435_1439del (p.Lys479SerfsTer10) c.*849+1576_*849+1580del (n.*849+1576_*849+1580del) c.1423_1427del (p.Lys475SerfsTer10) | |
22 | g.43946368G>A | CA324869420 | PNPLA3 | c.1432G>A (p.Glu478Lys) c.*849+1573G>A (n.*849+1573G>A) c.1420G>A (p.Glu474Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946368G>C | CA411848152 | PNPLA3 | c.1432G>C (p.Glu478Gln) c.*849+1573G>C (n.*849+1573G>C) c.1420G>C (p.Glu474Gln) | gnomAD v4 |
22 | g.43946368G= | CA2407489729 | PNPLA3 | c.1432G= (p.Glu478=) c.*849+1573G= (n.*849+1573G=) c.1420G= (p.Glu474=) | |
22 | g.43946368G>T | CA411848154 | PNPLA3 | c.1432G>T (p.Glu478Ter) c.*849+1573G>T (n.*849+1573G>T) c.1420G>T (p.Glu474Ter) | |
22 | g.43946369A= | CA2407489730 | PNPLA3 | c.1433A= (p.Glu478=) c.*849+1574A= (n.*849+1574A=) c.1421A= (p.Glu474=) | |
22 | g.43946369A>C | CA411848155 | PNPLA3 | c.1433A>C (p.Glu478Ala) c.*849+1574A>C (n.*849+1574A>C) c.1421A>C (p.Glu474Ala) | |
22 | g.43946369A>G | CA411848156 | PNPLA3 | c.1433A>G (p.Glu478Gly) c.*849+1574A>G (n.*849+1574A>G) c.1421A>G (p.Glu474Gly) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.43946369A>T | CA411848158 | PNPLA3 | c.1433A>T (p.Glu478Val) c.*849+1574A>T (n.*849+1574A>T) c.1421A>T (p.Glu474Val) | |
22 | g.43946370G>A | CA10278280 | PNPLA3 | c.1434G>A (p.Glu478=) c.*849+1575G>A (n.*849+1575G>A) c.1422G>A (p.Glu474=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.43946370G>C | CA411848160 | PNPLA3 | c.1434G>C (p.Glu478Asp) c.*849+1575G>C (n.*849+1575G>C) c.1422G>C (p.Glu474Asp) | |
22 | g.43946370G= | CA2407489731 | PNPLA3 | c.1434G= (p.Glu478=) c.*849+1575G= (n.*849+1575G=) c.1422G= (p.Glu474=) | |
22 | g.43946370G>T | CA411848162 | PNPLA3 | c.1434G>T (p.Glu478Asp) c.*849+1575G>T (n.*849+1575G>T) c.1422G>T (p.Glu474Asp) | |
22 | g.43946371A= | CA2407489732 | PNPLA3 | c.1435A= (p.Lys479=) c.*849+1576A= (n.*849+1576A=) c.1423A= (p.Lys475=) | |
22 | g.43946371A>C | CA411848164 | PNPLA3 | c.1435A>C (p.Lys479Gln) c.*849+1576A>C (n.*849+1576A>C) c.1423A>C (p.Lys475Gln) | |
22 | g.43946371A>G | CA411848165 | PNPLA3 | c.1435A>G (p.Lys479Glu) c.*849+1576A>G (n.*849+1576A>G) c.1423A>G (p.Lys475Glu) | gnomAD v4 |
22 | g.43946371A>T | CA411848167 | PNPLA3 | c.1435A>T (p.Lys479Ter) c.*849+1576A>T (n.*849+1576A>T) c.1423A>T (p.Lys475Ter) | dbSNP |
22 | g.43946372A>C | CA411848168 | PNPLA3 | c.1436A>C (p.Lys479Thr) c.*849+1577A>C (n.*849+1577A>C) c.1424A>C (p.Lys475Thr) | |
22 | g.43946372A>G | CA411848172 | PNPLA3 | c.1436A>G (p.Lys479Arg) c.*849+1577A>G (n.*849+1577A>G) c.1424A>G (p.Lys475Arg) | |
22 | g.43946372A>T | CA411848170 | PNPLA3 | c.1436A>T (p.Lys479Met) c.*849+1577A>T (n.*849+1577A>T) c.1424A>T (p.Lys475Met) | |
22 | g.43946373G>A | CA515083253 | PNPLA3 | c.1437G>A (p.Lys479=) c.*849+1578G>A (n.*849+1578G>A) c.1425G>A (p.Lys475=) | COSMIC |
22 | g.43946373G>C | CA411848174 | PNPLA3 | c.1437G>C (p.Lys479Asn) c.*849+1578G>C (n.*849+1578G>C) c.1425G>C (p.Lys475Asn) | |
22 | g.43946373G= | CA2407489733 | PNPLA3 | c.1437G= (p.Lys479=) c.*849+1578G= (n.*849+1578G=) c.1425G= (p.Lys475=) | |
22 | g.43946373G>T | CA411848175 | PNPLA3 | c.1437G>T (p.Lys479Asn) c.*849+1578G>T (n.*849+1578G>T) c.1425G>T (p.Lys475Asn) | dbSNP |
22 | g.43946374A>C | CA411848177 | PNPLA3 | c.1438A>C (p.Ser480Arg) c.*849+1579A>C (n.*849+1579A>C) c.1426A>C (p.Ser476Arg) | gnomAD v4 |
22 | g.43946374A>G | CA411848178 | PNPLA3 | c.1438A>G (p.Ser480Gly) c.*849+1579A>G (n.*849+1579A>G) c.1426A>G (p.Ser476Gly) | gnomAD v4 |
22 | g.43946374A>T | CA411848180 | PNPLA3 | c.1438A>T (p.Ser480Cys) c.*849+1579A>T (n.*849+1579A>T) c.1426A>T (p.Ser476Cys) | |
22 | g.43946375G>A | CA10278281 | PNPLA3 | c.1439G>A (p.Ser480Asn) c.*849+1580G>A (n.*849+1580G>A) c.1427G>A (p.Ser476Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946375G>C | CA411848181 | PNPLA3 | c.1439G>C (p.Ser480Thr) c.*849+1580G>C (n.*849+1580G>C) c.1427G>C (p.Ser476Thr) | |
22 | g.43946375G= | CA2407489734 | PNPLA3 | c.1439G= (p.Ser480=) c.*849+1580G= (n.*849+1580G=) c.1427G= (p.Ser476=) | |
22 | g.43946375G>T | CA411848183 | PNPLA3 | c.1439G>T (p.Ser480Ile) c.*849+1580G>T (n.*849+1580G>T) c.1427G>T (p.Ser476Ile) | dbSNP gnomAD v4 |
22 | g.43946376T>A | CA411848185 | PNPLA3 | c.1440T>A (p.Ser480Arg) c.*849+1581T>A (n.*849+1581T>A) c.1428T>A (p.Ser476Arg) | |
22 | g.43946376T>C | CA515083266 | PNPLA3 | c.1440T>C (p.Ser480=) c.*849+1581T>C (n.*849+1581T>C) c.1428T>C (p.Ser476=) | |
22 | g.43946376T>G | CA411848187 | PNPLA3 | c.1440T>G (p.Ser480Arg) c.*849+1581T>G (n.*849+1581T>G) c.1428T>G (p.Ser476Arg) | dbSNP |
22 | g.43946376T= | CA2407489735 | PNPLA3 | c.1440T= (p.Ser480=) c.*849+1581T= (n.*849+1581T=) c.1428T= (p.Ser476=) | |
22 | g.43946377C>A | CA411848190 | PNPLA3 | c.1441C>A (p.Leu481Met) c.*849+1582C>A (n.*849+1582C>A) c.1429C>A (p.Leu477Met) | COSMIC |
22 | g.43946377C>G | CA411848188 | PNPLA3 | c.1441C>G (p.Leu481Val) c.*849+1582C>G (n.*849+1582C>G) c.1429C>G (p.Leu477Val) | |
22 | g.43946377C>T | CA515083272 | PNPLA3 | c.1441C>T (p.Leu481=) c.*849+1582C>T (n.*849+1582C>T) c.1429C>T (p.Leu477=) | |
22 | g.43946377_43946379delinsCTG | CA2407489736 | PNPLA3 | c.1441_1443delinsCTG (p.Leu481=) c.*849+1582_*849+1584delinsCTG (n.*849+1582_*849+1584delinsCTG) c.1429_1431delinsCTG (p.Leu477=) | |
22 | g.43946378T>A | CA411848192 | PNPLA3 | c.1442T>A (p.Leu481Gln) c.*849+1583T>A (n.*849+1583T>A) c.1430T>A (p.Leu477Gln) | |
22 | g.43946378T>C | CA411848194 | PNPLA3 | c.1442T>C (p.Leu481Pro) c.*849+1583T>C (n.*849+1583T>C) c.1430T>C (p.Leu477Pro) | |
22 | g.43946378T>G | CA411848195 | PNPLA3 | c.1442T>G (p.Leu481Arg) c.*849+1583T>G (n.*849+1583T>G) c.1430T>G (p.Leu477Arg) | |
22 | g.43946380_43946381del | CA10278282 | PNPLA3 | c.1444_1445del (p.Ter482SerextTer8) c.*849+1585_*849+1586del (n.*849+1585_*849+1586del) c.1432_1433del (p.Ter478SerextTer8) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.43946379G>A | CA515083284 | PNPLA3 | c.1443G>A (p.Leu481=) c.*849+1584G>A (n.*849+1584G>A) c.1431G>A (p.Leu477=) | gnomAD v4 |
22 | g.43946379G>C | CA515083286 | PNPLA3 | c.1443G>C (p.Leu481=) c.*849+1584G>C (n.*849+1584G>C) c.1431G>C (p.Leu477=) | |
22 | g.43946379G= | CA2407489737 | PNPLA3 | c.1443G= (p.Leu481=) c.*849+1584G= (n.*849+1584G=) c.1431G= (p.Leu477=) | |
22 | g.43946379G>T | CA515083288 | PNPLA3 | c.1443G>T (p.Leu481=) c.*849+1584G>T (n.*849+1584G>T) c.1431G>T (p.Leu477=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.43946380T>A | CA411848198 | PNPLA3 | c.1444T>A (p.Ter482Arg) c.*849+1585T>A (n.*849+1585T>A) c.1432T>A (p.Ter478Arg) | |
22 | g.43946380T>C | CA411848199 | PNPLA3 | c.1444T>C (p.Ter482Arg) c.*849+1585T>C (n.*849+1585T>C) c.1432T>C (p.Ter478Arg) | |
22 | g.43946380T>G | CA411848201 | PNPLA3 | c.1444T>G (p.Ter482Gly) c.*849+1585T>G (n.*849+1585T>G) c.1432T>G (p.Ter478Gly) | |
22 | g.43946381G>A | CA515083296 | PNPLA3 | c.1445G>A (p.Ter482=) c.*849+1586G>A (n.*849+1586G>A) c.1433G>A (p.Ter478=) | |
22 | g.43946381G>C | CA411848202 | PNPLA3 | c.1445G>C (p.Ter482Ser) c.*849+1586G>C (n.*849+1586G>C) c.1433G>C (p.Ter478Ser) | |
22 | g.43946381G>T | CA411848204 | PNPLA3 | c.1445G>T (p.Ter482Leu) c.*849+1586G>T (n.*849+1586G>T) c.1433G>T (p.Ter478Leu) | |
22 | g.43946382A>C | CA411848207 | PNPLA3 | c.1446A>C (p.Ter482Cys) c.*849+1587A>C (n.*849+1587A>C) c.1434A>C (p.Ter478Cys) | |
22 | g.43946382A>G | CA411848208 | PNPLA3 | c.1446A>G (p.Ter482Trp) c.*849+1587A>G (n.*849+1587A>G) c.1434A>G (p.Ter478Trp) | |
22 | g.43946382A>T | CA411848210 | PNPLA3 | c.1446A>T (p.Ter482Cys) c.*849+1587A>T (n.*849+1587A>T) c.1434A>T (p.Ter478Cys) | |
22 | g.43946383G>A | CA2657154798 | PNPLA3 | c.*1G>A (n.*1G>A) c.*849+1588G>A (n.*849+1588G>A) | gnomAD v4 |
22 | g.43946383G>C | CA2577772142 | PNPLA3 | c.*1G>C (n.*1G>C) c.*849+1588G>C (n.*849+1588G>C) | |
22 | g.43946384T>C | CA2657154799 | PNPLA3 | c.*2T>C (n.*2T>C) c.*849+1589T>C (n.*849+1589T>C) | gnomAD v4 |
22 | g.43946386A= | CA2407489738 | PNPLA3 | c.*4A= (n.*4A=) c.*849+1591A= (n.*849+1591A=) | |
22 | g.43946386A>G | CA10278283 | PNPLA3 | c.*4A>G (n.*4A>G) c.*849+1591A>G (n.*849+1591A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946388T>C | CA2657154800 | PNPLA3 | c.*6T>C (n.*6T>C) c.*849+1593T>C (n.*849+1593T>C) | gnomAD v4 |
22 | g.43946389_43946392delinsTGAG | CA2407489739 | PNPLA3 | c.*7_*10delinsTGAG (n.*7_*10delinsTGAG) c.*849+1594_*849+1597delinsTGAG (n.*849+1594_*849+1597delinsTGAG) | |
22 | g.43946390G>A | CA2657154801 | PNPLA3 | c.*8G>A (n.*8G>A) c.*849+1595G>A (n.*849+1595G>A) | gnomAD v4 |
22 | g.43946394_43946396del | CA10278284 | PNPLA3 | c.*12_*14del (n.*12_*14del) c.*849+1599_*849+1601del (n.*849+1599_*849+1601del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946396_43946400del | CA2657154802 | PNPLA3 | c.*14_*18del (n.*14_*18del) c.*849+1601_*849+1605del (n.*849+1601_*849+1605del) | gnomAD v4 |
22 | g.43946395G= | CA2407489740 | PNPLA3 | c.*13G= (n.*13G=) c.*849+1600G= (n.*849+1600G=) | |
22 | g.43946395G>T | CA2407489741 | PNPLA3 | c.*13G>T (n.*13G>T) c.*849+1600G>T (n.*849+1600G>T) | dbSNP |
22 | g.43946396G>A | CA2819114889 | PNPLA3 | c.*14G>A (n.*14G>A) c.*849+1601G>A (n.*849+1601G>A) | |
22 | g.43946396_43946397delinsGC | CA2407489742 | PNPLA3 | c.*14_*15delinsGC (n.*14_*15delinsGC) c.*849+1601_*849+1602delinsGC (n.*849+1601_*849+1602delinsGC) | |
22 | g.43946397del | CA2407489743 | PNPLA3 | c.*15del (n.*15del) c.*849+1602del (n.*849+1602del) | dbSNP |
22 | g.43946397C>A | CA2657154803 | PNPLA3 | c.*15C>A (n.*15C>A) c.*849+1602C>A (n.*849+1602C>A) | gnomAD v4 |
22 | g.43946397C= | CA2407489744 | PNPLA3 | c.*15C= (n.*15C=) c.*849+1602C= (n.*849+1602C=) | |
22 | g.43946397C>G | CA10278286 | PNPLA3 | c.*15C>G (n.*15C>G) c.*849+1602C>G (n.*849+1602C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946397C>T | CA10278285 | PNPLA3 | c.*15C>T (n.*15C>T) c.*849+1602C>T (n.*849+1602C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946398G>A | CA10278287 | PNPLA3 | c.*16G>A (n.*16G>A) c.*849+1603G>A (n.*849+1603G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946398G= | CA2407489745 | PNPLA3 | c.*16G= (n.*16G=) c.*849+1603G= (n.*849+1603G=) | |
22 | g.43946400G>C | CA2657154804 | PNPLA3 | c.*18G>C (n.*18G>C) c.*849+1605G>C (n.*849+1605G>C) | gnomAD v4 |
22 | g.43946401T>G | CA10278288 | PNPLA3 | c.*19T>G (n.*19T>G) c.*849+1606T>G (n.*849+1606T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946401T= | CA2407489746 | PNPLA3 | c.*19T= (n.*19T=) c.*849+1606T= (n.*849+1606T=) | |
22 | g.43946402C>A | CA2657154805 | PNPLA3 | c.*20C>A (n.*20C>A) c.*849+1607C>A (n.*849+1607C>A) | gnomAD v4 |
22 | g.43946402C>G | CA2657154806 | PNPLA3 | c.*20C>G (n.*20C>G) c.*849+1607C>G (n.*849+1607C>G) | gnomAD v4 |
22 | g.43946403T>C | CA2577772143 | PNPLA3 | c.*21T>C (n.*21T>C) c.*849+1608T>C (n.*849+1608T>C) | |
22 | g.43946404A>G | CA2577772144 | PNPLA3 | c.*22A>G (n.*22A>G) c.*849+1609A>G (n.*849+1609A>G) | gnomAD v4 |
22 | g.43946406C>A | CA2657154807 | PNPLA3 | c.*24C>A (n.*24C>A) c.*849+1611C>A (n.*849+1611C>A) | gnomAD v4 |
22 | g.43946412C= | CA2407489747 | PNPLA3 | c.*30C= (n.*30C=) c.*849+1617C= (n.*849+1617C=) | |
22 | g.43946412C>G | CA10278289 | PNPLA3 | c.*30C>G (n.*30C>G) c.*849+1617C>G (n.*849+1617C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946412C>T | CA2657154808 | PNPLA3 | c.*30C>T (n.*30C>T) c.*849+1617C>T (n.*849+1617C>T) | gnomAD v4 |
22 | g.43946413T>C | CA2657154809 | PNPLA3 | c.*31T>C (n.*31T>C) c.*849+1618T>C (n.*849+1618T>C) | gnomAD v4 |
22 | g.43946416C>A | CA2657154810 | PNPLA3 | c.*34C>A (n.*34C>A) c.*849+1621C>A (n.*849+1621C>A) | gnomAD v4 |
22 | g.43946416C= | CA2407489748 | PNPLA3 | c.*34C= (n.*34C=) c.*849+1621C= (n.*849+1621C=) | |
22 | g.43946416C>T | CA10278290 | PNPLA3 | c.*34C>T (n.*34C>T) c.*849+1621C>T (n.*849+1621C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |