Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.43946198C>ACA411847525PNPLA3c.1262C>A (p.Pro421His)
c.*849+1403C>A (n.*849+1403C>A)
c.1250C>A (p.Pro417His)
22g.43946198C=CA2407489647PNPLA3c.1262C= (p.Pro421=)
c.*849+1403C= (n.*849+1403C=)
c.1250C= (p.Pro417=)
22g.43946198C>GCA10278240PNPLA3c.1262C>G (p.Pro421Arg)
c.*849+1403C>G (n.*849+1403C>G)
c.1250C>G (p.Pro417Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.43946198C>TCA411847528PNPLA3c.1262C>T (p.Pro421Leu)
c.*849+1403C>T (n.*849+1403C>T)
c.1250C>T (p.Pro417Leu)
ClinVar dbSNP
22g.43946199T>ACA515082902PNPLA3c.1263T>A (p.Pro421=)
c.*849+1404T>A (n.*849+1404T>A)
c.1251T>A (p.Pro417=)
22g.43946199T>CCA515082904PNPLA3c.1263T>C (p.Pro421=)
c.*849+1404T>C (n.*849+1404T>C)
c.1251T>C (p.Pro417=)
22g.43946199T>GCA515082906PNPLA3c.1263T>G (p.Pro421=)
c.*849+1404T>G (n.*849+1404T>G)
c.1251T>G (p.Pro417=)
22g.43946200G>ACA411847529PNPLA3c.1264G>A (p.Glu422Lys)
c.*849+1405G>A (n.*849+1405G>A)
c.1252G>A (p.Glu418Lys)
22g.43946200G>CCA10278241PNPLA3c.1264G>C (p.Glu422Gln)
c.*849+1405G>C (n.*849+1405G>C)
c.1252G>C (p.Glu418Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.43946200G=CA2407489648PNPLA3c.1264G= (p.Glu422=)
c.*849+1405G= (n.*849+1405G=)
c.1252G= (p.Glu418=)
22g.43946200G>TCA411847530PNPLA3c.1264G>T (p.Glu422Ter)
c.*849+1405G>T (n.*849+1405G>T)
c.1252G>T (p.Glu418Ter)
22g.43946201A>CCA411847534PNPLA3c.1265A>C (p.Glu422Ala)
c.*849+1406A>C (n.*849+1406A>C)
c.1253A>C (p.Glu418Ala)
22g.43946201A>GCA411847531PNPLA3c.1265A>G (p.Glu422Gly)
c.*849+1406A>G (n.*849+1406A>G)
c.1253A>G (p.Glu418Gly)
22g.43946201A>TCA411847532PNPLA3c.1265A>T (p.Glu422Val)
c.*849+1406A>T (n.*849+1406A>T)
c.1253A>T (p.Glu418Val)
22g.43946202G>ACA515082914PNPLA3c.1266G>A (p.Glu422=)
c.*849+1407G>A (n.*849+1407G>A)
c.1254G>A (p.Glu418=)
22g.43946202G>CCA411847535PNPLA3c.1266G>C (p.Glu422Asp)
c.*849+1407G>C (n.*849+1407G>C)
c.1254G>C (p.Glu418Asp)
22g.43946202G=CA2407489649PNPLA3c.1266G= (p.Glu422=)
c.*849+1407G= (n.*849+1407G=)
c.1254G= (p.Glu418=)
22g.43946202G>TCA411847536PNPLA3c.1266G>T (p.Glu422Asp)
c.*849+1407G>T (n.*849+1407G>T)
c.1254G>T (p.Glu418Asp)
dbSNP
22g.43946203C>ACA411847538PNPLA3c.1267C>A (p.Gln423Lys)
c.*849+1408C>A (n.*849+1408C>A)
c.1255C>A (p.Gln419Lys)
22g.43946203C=CA2407489650PNPLA3c.1267C= (p.Gln423=)
c.*849+1408C= (n.*849+1408C=)
c.1255C= (p.Gln419=)
22g.43946203C>GCA411847539PNPLA3c.1267C>G (p.Gln423Glu)
c.*849+1408C>G (n.*849+1408C>G)
c.1255C>G (p.Gln419Glu)
22g.43946203C>TCA10278242PNPLA3c.1267C>T (p.Gln423Ter)
c.*849+1408C>T (n.*849+1408C>T)
c.1255C>T (p.Gln419Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.43946204A>CCA411847544PNPLA3c.1268A>C (p.Gln423Pro)
c.*849+1409A>C (n.*849+1409A>C)
c.1256A>C (p.Gln419Pro)
22g.43946204A>GCA411847542PNPLA3c.1268A>G (p.Gln423Arg)
c.*849+1409A>G (n.*849+1409A>G)
c.1256A>G (p.Gln419Arg)
gnomAD v4
22g.43946204A>TCA411847543PNPLA3c.1268A>T (p.Gln423Leu)
c.*849+1409A>T (n.*849+1409A>T)
c.1256A>T (p.Gln419Leu)
22g.43946205G>ACA515082927PNPLA3c.1269G>A (p.Gln423=)
c.*849+1410G>A (n.*849+1410G>A)
c.1257G>A (p.Gln419=)
22g.43946205G>CCA411847545PNPLA3c.1269G>C (p.Gln423His)
c.*849+1410G>C (n.*849+1410G>C)
c.1257G>C (p.Gln419His)
22g.43946205G>TCA411847546PNPLA3c.1269G>T (p.Gln423His)
c.*849+1410G>T (n.*849+1410G>T)
c.1257G>T (p.Gln419His)
22g.43946206G>ACA411847548PNPLA3c.1270G>A (p.Asp424Asn)
c.*849+1411G>A (n.*849+1411G>A)
c.1258G>A (p.Asp420Asn)
dbSNP gnomAD v2 gnomAD v4
22g.43946206G>CCA411847550PNPLA3c.1270G>C (p.Asp424His)
c.*849+1411G>C (n.*849+1411G>C)
c.1258G>C (p.Asp420His)
22g.43946206G=CA2407489651PNPLA3c.1270G= (p.Asp424=)
c.*849+1411G= (n.*849+1411G=)
c.1258G= (p.Asp420=)
22g.43946206G>TCA411847552PNPLA3c.1270G>T (p.Asp424Tyr)
c.*849+1411G>T (n.*849+1411G>T)
c.1258G>T (p.Asp420Tyr)
22g.43946207A>CCA411847553PNPLA3c.1271A>C (p.Asp424Ala)
c.*849+1412A>C (n.*849+1412A>C)
c.1259A>C (p.Asp420Ala)
22g.43946207A>GCA411847554PNPLA3c.1271A>G (p.Asp424Gly)
c.*849+1412A>G (n.*849+1412A>G)
c.1259A>G (p.Asp420Gly)
22g.43946207A>TCA411847555PNPLA3c.1271A>T (p.Asp424Val)
c.*849+1412A>T (n.*849+1412A>T)
c.1259A>T (p.Asp420Val)
gnomAD v4
22g.43946208C>ACA411847557PNPLA3c.1272C>A (p.Asp424Glu)
c.*849+1413C>A (n.*849+1413C>A)
c.1260C>A (p.Asp420Glu)
22g.43946208C=CA2407489652PNPLA3c.1272C= (p.Asp424=)
c.*849+1413C= (n.*849+1413C=)
c.1260C= (p.Asp420=)
22g.43946208C>GCA411847558PNPLA3c.1272C>G (p.Asp424Glu)
c.*849+1413C>G (n.*849+1413C>G)
c.1260C>G (p.Asp420Glu)
dbSNP gnomAD v2 gnomAD v4
22g.43946208C>TCA515082946PNPLA3c.1272C>T (p.Asp424=)
c.*849+1413C>T (n.*849+1413C>T)
c.1260C>T (p.Asp420=)
22g.43946209T>ACA411847559PNPLA3c.1273T>A (p.Trp425Arg)
c.*849+1414T>A (n.*849+1414T>A)
c.1261T>A (p.Trp421Arg)
22g.43946209T>CCA411847560PNPLA3c.1273T>C (p.Trp425Arg)
c.*849+1414T>C (n.*849+1414T>C)
c.1261T>C (p.Trp421Arg)
22g.43946209T>GCA411847562PNPLA3c.1273T>G (p.Trp425Gly)
c.*849+1414T>G (n.*849+1414T>G)
c.1261T>G (p.Trp421Gly)
22g.43946210G>ACA411847564PNPLA3c.1274G>A (p.Trp425Ter)
c.*849+1415G>A (n.*849+1415G>A)
c.1262G>A (p.Trp421Ter)
22g.43946210G>CCA411847567PNPLA3c.1274G>C (p.Trp425Ser)
c.*849+1415G>C (n.*849+1415G>C)
c.1262G>C (p.Trp421Ser)
22g.43946210G>TCA411847566PNPLA3c.1274G>T (p.Trp425Leu)
c.*849+1415G>T (n.*849+1415G>T)
c.1262G>T (p.Trp421Leu)
22g.43946211G>ACA411847569PNPLA3c.1275G>A (p.Trp425Ter)
c.*849+1416G>A (n.*849+1416G>A)
c.1263G>A (p.Trp421Ter)
22g.43946211G>CCA411847571PNPLA3c.1275G>C (p.Trp425Cys)
c.*849+1416G>C (n.*849+1416G>C)
c.1263G>C (p.Trp421Cys)
22g.43946211G>TCA411847573PNPLA3c.1275G>T (p.Trp425Cys)
c.*849+1416G>T (n.*849+1416G>T)
c.1263G>T (p.Trp421Cys)
22g.43946212C>ACA411847575PNPLA3c.1276C>A (p.Pro426Thr)
c.*849+1417C>A (n.*849+1417C>A)
c.1264C>A (p.Pro422Thr)
22g.43946212C=CA2407489653PNPLA3c.1276C= (p.Pro426=)
c.*849+1417C= (n.*849+1417C=)
c.1264C= (p.Pro422=)
22g.43946212C>GCA411847577PNPLA3c.1276C>G (p.Pro426Ala)
c.*849+1417C>G (n.*849+1417C>G)
c.1264C>G (p.Pro422Ala)
22g.43946212C>TCA324869411PNPLA3c.1276C>T (p.Pro426Ser)
c.*849+1417C>T (n.*849+1417C>T)
c.1264C>T (p.Pro422Ser)
dbSNP gnomAD v2 gnomAD v4 COSMIC
22g.43946219_43946230delCA2657154793PNPLA3c.1283_1294del (p.Trp428_Cys431del)
c.*849+1424_*849+1435del (n.*849+1424_*849+1435del)
c.1271_1282del (p.Trp424_Cys427del)
gnomAD v4
22g.43946213C>ACA411847578PNPLA3c.1277C>A (p.Pro426His)
c.*849+1418C>A (n.*849+1418C>A)
c.1265C>A (p.Pro422His)
22g.43946213C>GCA411847579PNPLA3c.1277C>G (p.Pro426Arg)
c.*849+1418C>G (n.*849+1418C>G)
c.1265C>G (p.Pro422Arg)
22g.43946213C>TCA411847581PNPLA3c.1277C>T (p.Pro426Leu)
c.*849+1418C>T (n.*849+1418C>T)
c.1265C>T (p.Pro422Leu)
22g.43946214C>ACA515082969PNPLA3c.1278C>A (p.Pro426=)
c.*849+1419C>A (n.*849+1419C>A)
c.1266C>A (p.Pro422=)
22g.43946214C>GCA515082971PNPLA3c.1278C>G (p.Pro426=)
c.*849+1419C>G (n.*849+1419C>G)
c.1266C>G (p.Pro422=)
22g.43946214C>TCA515082973PNPLA3c.1278C>T (p.Pro426=)
c.*849+1419C>T (n.*849+1419C>T)
c.1266C>T (p.Pro422=)
22g.43946215T>ACA411847582PNPLA3c.1279T>A (p.Cys427Ser)
c.*849+1420T>A (n.*849+1420T>A)
c.1267T>A (p.Cys423Ser)
22g.43946215T>CCA411847584PNPLA3c.1279T>C (p.Cys427Arg)
c.*849+1420T>C (n.*849+1420T>C)
c.1267T>C (p.Cys423Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.43946215T>GCA411847586PNPLA3c.1279T>G (p.Cys427Gly)
c.*849+1420T>G (n.*849+1420T>G)
c.1267T>G (p.Cys423Gly)
22g.43946215T=CA2407489654PNPLA3c.1279T= (p.Cys427=)
c.*849+1420T= (n.*849+1420T=)
c.1267T= (p.Cys423=)
22g.43946216G>ACA10278243PNPLA3c.1280G>A (p.Cys427Tyr)
c.*849+1421G>A (n.*849+1421G>A)
c.1268G>A (p.Cys423Tyr)
dbSNP ExAC gnomAD v2
22g.43946216G>CCA411847587PNPLA3c.1280G>C (p.Cys427Ser)
c.*849+1421G>C (n.*849+1421G>C)
c.1268G>C (p.Cys423Ser)
22g.43946216G=CA2407489655PNPLA3c.1280G= (p.Cys427=)
c.*849+1421G= (n.*849+1421G=)
c.1268G= (p.Cys423=)
22g.43946216G>TCA411847589PNPLA3c.1280G>T (p.Cys427Phe)
c.*849+1421G>T (n.*849+1421G>T)
c.1268G>T (p.Cys423Phe)
22g.43946217C>ACA411847592PNPLA3c.1281C>A (p.Cys427Ter)
c.*849+1422C>A (n.*849+1422C>A)
c.1269C>A (p.Cys423Ter)
22g.43946217C>GCA411847593PNPLA3c.1281C>G (p.Cys427Trp)
c.*849+1422C>G (n.*849+1422C>G)
c.1269C>G (p.Cys423Trp)
22g.43946217C>TCA515082994PNPLA3c.1281C>T (p.Cys427=)
c.*849+1422C>T (n.*849+1422C>T)
c.1269C>T (p.Cys423=)
22g.43946218T>ACA411847595PNPLA3c.1282T>A (p.Trp428Arg)
c.*849+1423T>A (n.*849+1423T>A)
c.1270T>A (p.Trp424Arg)
22g.43946218T>CCA411847596PNPLA3c.1282T>C (p.Trp428Arg)
c.*849+1423T>C (n.*849+1423T>C)
c.1270T>C (p.Trp424Arg)
gnomAD v4
22g.43946218T>GCA411847598PNPLA3c.1282T>G (p.Trp428Gly)
c.*849+1423T>G (n.*849+1423T>G)
c.1270T>G (p.Trp424Gly)
22g.43946219G>ACA411847600PNPLA3c.1283G>A (p.Trp428Ter)
c.*849+1424G>A (n.*849+1424G>A)
c.1271G>A (p.Trp424Ter)
22g.43946219G>CCA411847602PNPLA3c.1283G>C (p.Trp428Ser)
c.*849+1424G>C (n.*849+1424G>C)
c.1271G>C (p.Trp424Ser)
22g.43946219G>TCA411847603PNPLA3c.1283G>T (p.Trp428Leu)
c.*849+1424G>T (n.*849+1424G>T)
c.1271G>T (p.Trp424Leu)
22g.43946220delCA2546548038PNPLA3c.1284del (p.Trp428Ter)
c.*849+1425del (n.*849+1425del)
c.1272del (p.Trp424Ter)
22g.43946220G>ACA10278244PNPLA3c.1284G>A (p.Trp428Ter)
c.*849+1425G>A (n.*849+1425G>A)
c.1272G>A (p.Trp424Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.43946220G>CCA411847604PNPLA3c.1284G>C (p.Trp428Cys)
c.*849+1425G>C (n.*849+1425G>C)
c.1272G>C (p.Trp424Cys)
22g.43946220G=CA2407489656PNPLA3c.1284G= (p.Trp428=)
c.*849+1425G= (n.*849+1425G=)
c.1272G= (p.Trp424=)
22g.43946220G>TCA411847605PNPLA3c.1284G>T (p.Trp428Cys)
c.*849+1425G>T (n.*849+1425G>T)
c.1272G>T (p.Trp424Cys)
dbSNP gnomAD v4
22g.43946221A=CA2407489657PNPLA3c.1285A= (p.Thr429=)
c.*849+1426A= (n.*849+1426A=)
c.1273A= (p.Thr425=)
22g.43946221A>CCA411847608PNPLA3c.1285A>C (p.Thr429Pro)
c.*849+1426A>C (n.*849+1426A>C)
c.1273A>C (p.Thr425Pro)
22g.43946221A>GCA411847607PNPLA3c.1285A>G (p.Thr429Ala)
c.*849+1426A>G (n.*849+1426A>G)
c.1273A>G (p.Thr425Ala)
dbSNP
22g.43946221A>TCA411847606PNPLA3c.1285A>T (p.Thr429Ser)
c.*849+1426A>T (n.*849+1426A>T)
c.1273A>T (p.Thr425Ser)
22g.43946222C>ACA411847610PNPLA3c.1286C>A (p.Thr429Asn)
c.*849+1427C>A (n.*849+1427C>A)
c.1274C>A (p.Thr425Asn)
22g.43946222C>GCA411847613PNPLA3c.1286C>G (p.Thr429Ser)
c.*849+1427C>G (n.*849+1427C>G)
c.1274C>G (p.Thr425Ser)
22g.43946222C>TCA411847611PNPLA3c.1286C>T (p.Thr429Ile)
c.*849+1427C>T (n.*849+1427C>T)
c.1274C>T (p.Thr425Ile)
22g.43946223T>ACA515083021PNPLA3c.1287T>A (p.Thr429=)
c.*849+1428T>A (n.*849+1428T>A)
c.1275T>A (p.Thr425=)
dbSNP
22g.43946223T>CCA515083022PNPLA3c.1287T>C (p.Thr429=)
c.*849+1428T>C (n.*849+1428T>C)
c.1275T>C (p.Thr425=)
dbSNP
22g.43946223T>GCA515083023PNPLA3c.1287T>G (p.Thr429=)
c.*849+1428T>G (n.*849+1428T>G)
c.1275T>G (p.Thr425=)
22g.43946223T=CA2407489658PNPLA3c.1287T= (p.Thr429=)
c.*849+1428T= (n.*849+1428T=)
c.1275T= (p.Thr425=)
22g.43946224C>ACA411847614PNPLA3c.1288C>A (p.Pro430Thr)
c.*849+1429C>A (n.*849+1429C>A)
c.1276C>A (p.Pro426Thr)
22g.43946224C=CA2407489659PNPLA3c.1288C= (p.Pro430=)
c.*849+1429C= (n.*849+1429C=)
c.1276C= (p.Pro426=)
22g.43946224C>GCA411847616PNPLA3c.1288C>G (p.Pro430Ala)
c.*849+1429C>G (n.*849+1429C>G)
c.1276C>G (p.Pro426Ala)
22g.43946224C>TCA10278245PNPLA3c.1288C>T (p.Pro430Ser)
c.*849+1429C>T (n.*849+1429C>T)
c.1276C>T (p.Pro426Ser)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
22g.43946225C>ACA411847618PNPLA3c.1289C>A (p.Pro430His)
c.*849+1430C>A (n.*849+1430C>A)
c.1277C>A (p.Pro426His)
22g.43946225C=CA2407489660PNPLA3c.1289C= (p.Pro430=)
c.*849+1430C= (n.*849+1430C=)
c.1277C= (p.Pro426=)
22g.43946225C>GCA411847619PNPLA3c.1289C>G (p.Pro430Arg)
c.*849+1430C>G (n.*849+1430C>G)
c.1277C>G (p.Pro426Arg)
22g.43946225C>TCA324869412PNPLA3c.1289C>T (p.Pro430Leu)
c.*849+1430C>T (n.*849+1430C>T)
c.1277C>T (p.Pro426Leu)
dbSNP gnomAD v2 gnomAD v4
22g.43946226C>ACA515083037PNPLA3c.1290C>A (p.Pro430=)
c.*849+1431C>A (n.*849+1431C>A)
c.1278C>A (p.Pro426=)
22g.43946226C=CA2407489661PNPLA3c.1290C= (p.Pro430=)
c.*849+1431C= (n.*849+1431C=)
c.1278C= (p.Pro426=)
22g.43946226C>GCA515083039PNPLA3c.1290C>G (p.Pro430=)
c.*849+1431C>G (n.*849+1431C>G)
c.1278C>G (p.Pro426=)
dbSNP gnomAD v4
22g.43946226C>TCA515083041PNPLA3c.1290C>T (p.Pro430=)
c.*849+1431C>T (n.*849+1431C>T)
c.1278C>T (p.Pro426=)
22g.43946227T>ACA411847621PNPLA3c.1291T>A (p.Cys431Ser)
c.*849+1432T>A (n.*849+1432T>A)
c.1279T>A (p.Cys427Ser)
22g.43946227T>CCA411847623PNPLA3c.1291T>C (p.Cys431Arg)
c.*849+1432T>C (n.*849+1432T>C)
c.1279T>C (p.Cys427Arg)
22g.43946227T>GCA411847624PNPLA3c.1291T>G (p.Cys431Gly)
c.*849+1432T>G (n.*849+1432T>G)
c.1279T>G (p.Cys427Gly)
22g.43946228G>ACA324869413PNPLA3c.1292G>A (p.Cys431Tyr)
c.*849+1433G>A (n.*849+1433G>A)
c.1280G>A (p.Cys427Tyr)
dbSNP
22g.43946228G>CCA411847627PNPLA3c.1292G>C (p.Cys431Ser)
c.*849+1433G>C (n.*849+1433G>C)
c.1280G>C (p.Cys427Ser)
22g.43946228G=CA2407489662PNPLA3c.1292G= (p.Cys431=)
c.*849+1433G= (n.*849+1433G=)
c.1280G= (p.Cys427=)
22g.43946228G>TCA411847629PNPLA3c.1292G>T (p.Cys431Phe)
c.*849+1433G>T (n.*849+1433G>T)
c.1280G>T (p.Cys427Phe)
22g.43946229C>ACA411847630PNPLA3c.1293C>A (p.Cys431Ter)
c.*849+1434C>A (n.*849+1434C>A)
c.1281C>A (p.Cys427Ter)
22g.43946229C=CA2407489663PNPLA3c.1293C= (p.Cys431=)
c.*849+1434C= (n.*849+1434C=)
c.1281C= (p.Cys427=)
22g.43946229C>GCA411847631PNPLA3c.1293C>G (p.Cys431Trp)
c.*849+1434C>G (n.*849+1434C>G)
c.1281C>G (p.Cys427Trp)
22g.43946229C>TCA515083053PNPLA3c.1293C>T (p.Cys431=)
c.*849+1434C>T (n.*849+1434C>T)
c.1281C>T (p.Cys427=)
dbSNP gnomAD v3 gnomAD v4
22g.43946230T>ACA411847634PNPLA3c.1294T>A (p.Ser432Thr)
c.*849+1435T>A (n.*849+1435T>A)
c.1282T>A (p.Ser428Thr)
22g.43946230T>CCA411847635PNPLA3c.1294T>C (p.Ser432Pro)
c.*849+1435T>C (n.*849+1435T>C)
c.1282T>C (p.Ser428Pro)
22g.43946230T>GCA411847637PNPLA3c.1294T>G (p.Ser432Ala)
c.*849+1435T>G (n.*849+1435T>G)
c.1282T>G (p.Ser428Ala)
22g.43946231C>ACA411847639PNPLA3c.1295C>A (p.Ser432Tyr)
c.*849+1436C>A (n.*849+1436C>A)
c.1283C>A (p.Ser428Tyr)
22g.43946231C>GCA411847641PNPLA3c.1295C>G (p.Ser432Cys)
c.*849+1436C>G (n.*849+1436C>G)
c.1283C>G (p.Ser428Cys)
22g.43946231C>TCA411847642PNPLA3c.1295C>T (p.Ser432Phe)
c.*849+1436C>T (n.*849+1436C>T)
c.1283C>T (p.Ser428Phe)
22g.43946232C>ACA515083065PNPLA3c.1296C>A (p.Ser432=)
c.*849+1437C>A (n.*849+1437C>A)
c.1284C>A (p.Ser428=)
COSMIC
22g.43946232C=CA2407489664PNPLA3c.1296C= (p.Ser432=)
c.*849+1437C= (n.*849+1437C=)
c.1284C= (p.Ser428=)
22g.43946232C>GCA515083067PNPLA3c.1296C>G (p.Ser432=)
c.*849+1437C>G (n.*849+1437C>G)
c.1284C>G (p.Ser428=)
gnomAD v4
22g.43946232C>TCA515083069PNPLA3c.1296C>T (p.Ser432=)
c.*849+1437C>T (n.*849+1437C>T)
c.1284C>T (p.Ser428=)
dbSNP gnomAD v3 gnomAD v4 COSMIC
22g.43946233C>ACA411847645PNPLA3c.1297C>A (p.Pro433Thr)
c.*849+1438C>A (n.*849+1438C>A)
c.1285C>A (p.Pro429Thr)
22g.43946233C>GCA411847647PNPLA3c.1297C>G (p.Pro433Ala)
c.*849+1438C>G (n.*849+1438C>G)
c.1285C>G (p.Pro429Ala)
22g.43946233C>TCA411847648PNPLA3c.1297C>T (p.Pro433Ser)
c.*849+1438C>T (n.*849+1438C>T)
c.1285C>T (p.Pro429Ser)
gnomAD v4
22g.43946235_43946246delCA515083073PNPLA3c.1299_1310del (p.Lys434_Pro437del)
c.*849+1440_*849+1451del (n.*849+1440_*849+1451del)
c.1287_1298del (p.Lys430_Pro433del)
22g.43946234C>ACA411847650PNPLA3c.1298C>A (p.Pro433His)
c.*849+1439C>A (n.*849+1439C>A)
c.1286C>A (p.Pro429His)
22g.43946234C=CA2407489665PNPLA3c.1298C= (p.Pro433=)
c.*849+1439C= (n.*849+1439C=)
c.1286C= (p.Pro429=)
22g.43946234C>GCA411847651PNPLA3c.1298C>G (p.Pro433Arg)
c.*849+1439C>G (n.*849+1439C>G)
c.1286C>G (p.Pro429Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.43946234C>TCA411847653PNPLA3c.1298C>T (p.Pro433Leu)
c.*849+1439C>T (n.*849+1439C>T)
c.1286C>T (p.Pro429Leu)
22g.43946235C>ACA515083081PNPLA3c.1299C>A (p.Pro433=)
c.*849+1440C>A (n.*849+1440C>A)
c.1287C>A (p.Pro429=)
22g.43946235C=CA2407489666PNPLA3c.1299C= (p.Pro433=)
c.*849+1440C= (n.*849+1440C=)
c.1287C= (p.Pro429=)
22g.43946235C>GCA515083083PNPLA3c.1299C>G (p.Pro433=)
c.*849+1440C>G (n.*849+1440C>G)
c.1287C>G (p.Pro429=)
22g.43946235C>TCA10278246PNPLA3c.1299C>T (p.Pro433=)
c.*849+1440C>T (n.*849+1440C>T)
c.1287C>T (p.Pro429=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.43946236A=CA2407489667PNPLA3c.1300A= (p.Lys434=)
c.*849+1441A= (n.*849+1441A=)
c.1288A= (p.Lys430=)
22g.43946236A>CCA411847655PNPLA3c.1300A>C (p.Lys434Gln)
c.*849+1441A>C (n.*849+1441A>C)
c.1288A>C (p.Lys430Gln)
gnomAD v4
22g.43946236A>GCA10278247PNPLA3c.1300A>G (p.Lys434Glu)
c.*849+1441A>G (n.*849+1441A>G)
c.1288A>G (p.Lys430Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.43946236A>TCA411847657PNPLA3c.1300A>T (p.Lys434Ter)
c.*849+1441A>T (n.*849+1441A>T)
c.1288A>T (p.Lys430Ter)
22g.43946237A>CCA411847659PNPLA3c.1301A>C (p.Lys434Thr)
c.*849+1442A>C (n.*849+1442A>C)
c.1289A>C (p.Lys430Thr)
22g.43946237A>GCA411847663PNPLA3c.1301A>G (p.Lys434Arg)
c.*849+1442A>G (n.*849+1442A>G)
c.1289A>G (p.Lys430Arg)
22g.43946237A>TCA411847664PNPLA3c.1301A>T (p.Lys434Met)
c.*849+1442A>T (n.*849+1442A>T)
c.1289A>T (p.Lys430Met)
22g.43946238G>ACA515083099PNPLA3c.1302G>A (p.Lys434=)
c.*849+1443G>A (n.*849+1443G>A)
c.1290G>A (p.Lys430=)
dbSNP gnomAD v2 gnomAD v4
22g.43946238G>CCA10278248PNPLA3c.1302G>C (p.Lys434Asn)
c.*849+1443G>C (n.*849+1443G>C)
c.1290G>C (p.Lys430Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.43946238G=CA2407489668PNPLA3c.1302G= (p.Lys434=)
c.*849+1443G= (n.*849+1443G=)
c.1290G= (p.Lys430=)
22g.43946238G>TCA411847666PNPLA3c.1302G>T (p.Lys434Asn)
c.*849+1443G>T (n.*849+1443G>T)
c.1290G>T (p.Lys430Asn)
22g.43946239G>ACA10278249PNPLA3c.1303G>A (p.Gly435Ser)
c.*849+1444G>A (n.*849+1444G>A)
c.1291G>A (p.Gly431Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.43946239G>CCA411847671PNPLA3c.1303G>C (p.Gly435Arg)
c.*849+1444G>C (n.*849+1444G>C)
c.1291G>C (p.Gly431Arg)
22g.43946239G=CA2407489669PNPLA3c.1303G= (p.Gly435=)
c.*849+1444G= (n.*849+1444G=)
c.1291G= (p.Gly431=)
22g.43946239G>TCA411847670PNPLA3c.1303G>T (p.Gly435Cys)
c.*849+1444G>T (n.*849+1444G>T)
c.1291G>T (p.Gly431Cys)
22g.43946240G>ACA411847673PNPLA3c.1304G>A (p.Gly435Asp)
c.*849+1445G>A (n.*849+1445G>A)
c.1292G>A (p.Gly431Asp)
22g.43946240G>CCA411847674PNPLA3c.1304G>C (p.Gly435Ala)
c.*849+1445G>C (n.*849+1445G>C)
c.1292G>C (p.Gly431Ala)
22g.43946240G>TCA411847676PNPLA3c.1304G>T (p.Gly435Val)
c.*849+1445G>T (n.*849+1445G>T)
c.1292G>T (p.Gly431Val)
22g.43946241C>ACA515083114PNPLA3c.1305C>A (p.Gly435=)
c.*849+1446C>A (n.*849+1446C>A)
c.1293C>A (p.Gly431=)
22g.43946241C>GCA515083116PNPLA3c.1305C>G (p.Gly435=)
c.*849+1446C>G (n.*849+1446C>G)
c.1293C>G (p.Gly431=)
22g.43946241C>TCA515083118PNPLA3c.1305C>T (p.Gly435=)
c.*849+1446C>T (n.*849+1446C>T)
c.1293C>T (p.Gly431=)
22g.43946242T>ACA411847677PNPLA3c.1306T>A (p.Cys436Ser)
c.*849+1447T>A (n.*849+1447T>A)
c.1294T>A (p.Cys432Ser)
22g.43946242T>CCA411847678PNPLA3c.1306T>C (p.Cys436Arg)
c.*849+1447T>C (n.*849+1447T>C)
c.1294T>C (p.Cys432Arg)
22g.43946242T>GCA411847679PNPLA3c.1306T>G (p.Cys436Gly)
c.*849+1447T>G (n.*849+1447T>G)
c.1294T>G (p.Cys432Gly)
22g.43946243G>ACA411847680PNPLA3c.1307G>A (p.Cys436Tyr)
c.*849+1448G>A (n.*849+1448G>A)
c.1295G>A (p.Cys432Tyr)
22g.43946243G>CCA324869414PNPLA3c.1307G>C (p.Cys436Ser)
c.*849+1448G>C (n.*849+1448G>C)
c.1295G>C (p.Cys432Ser)
dbSNP
22g.43946243G=CA2407489670PNPLA3c.1307G= (p.Cys436=)
c.*849+1448G= (n.*849+1448G=)
c.1295G= (p.Cys432=)
22g.43946243G>TCA411847682PNPLA3c.1307G>T (p.Cys436Phe)
c.*849+1448G>T (n.*849+1448G>T)
c.1295G>T (p.Cys432Phe)
22g.43946244T>ACA411847685PNPLA3c.1308T>A (p.Cys436Ter)
c.*849+1449T>A (n.*849+1449T>A)
c.1296T>A (p.Cys432Ter)
22g.43946244T>CCA515083132PNPLA3c.1308T>C (p.Cys436=)
c.*849+1449T>C (n.*849+1449T>C)
c.1296T>C (p.Cys432=)
22g.43946244T>GCA411847686PNPLA3c.1308T>G (p.Cys436Trp)
c.*849+1449T>G (n.*849+1449T>G)
c.1296T>G (p.Cys432Trp)
22g.43946245C>ACA411847688PNPLA3c.1309C>A (p.Pro437Thr)
c.*849+1450C>A (n.*849+1450C>A)
c.1297C>A (p.Pro433Thr)
22g.43946245C>GCA411847689PNPLA3c.1309C>G (p.Pro437Ala)
c.*849+1450C>G (n.*849+1450C>G)
c.1297C>G (p.Pro433Ala)
22g.43946245C>TCA411847691PNPLA3c.1309C>T (p.Pro437Ser)
c.*849+1450C>T (n.*849+1450C>T)
c.1297C>T (p.Pro433Ser)
22g.43946246C>ACA411847694PNPLA3c.1310C>A (p.Pro437Gln)
c.*849+1451C>A (n.*849+1451C>A)
c.1298C>A (p.Pro433Gln)
22g.43946246C>GCA411847695PNPLA3c.1310C>G (p.Pro437Arg)
c.*849+1451C>G (n.*849+1451C>G)
c.1298C>G (p.Pro433Arg)
22g.43946246C>TCA411847697PNPLA3c.1310C>T (p.Pro437Leu)
c.*849+1451C>T (n.*849+1451C>T)
c.1298C>T (p.Pro433Leu)
gnomAD v4
22g.43946247A>CCA515083144PNPLA3c.1311A>C (p.Pro437=)
c.*849+1452A>C (n.*849+1452A>C)
c.1299A>C (p.Pro433=)
22g.43946247A>GCA515083145PNPLA3c.1311A>G (p.Pro437=)
c.*849+1452A>G (n.*849+1452A>G)
c.1299A>G (p.Pro433=)
gnomAD v4
22g.43946247A>TCA515083148PNPLA3c.1311A>T (p.Pro437=)
c.*849+1452A>T (n.*849+1452A>T)
c.1299A>T (p.Pro433=)
22g.43946254_43946265delCA2577772127PNPLA3c.1318_1329del (p.Thr440_Glu443del)
c.*849+1459_*849+1470del (n.*849+1459_*849+1470del)
c.1306_1317del (p.Thr436_Glu439del)
gnomAD v4
22g.43946248G>ACA411847699PNPLA3c.1312G>A (p.Ala438Thr)
c.*849+1453G>A (n.*849+1453G>A)
c.1300G>A (p.Ala434Thr)
22g.43946248G>CCA411847700PNPLA3c.1312G>C (p.Ala438Pro)
c.*849+1453G>C (n.*849+1453G>C)
c.1300G>C (p.Ala434Pro)
22g.43946248G=CA2407489671PNPLA3c.1312G= (p.Ala438=)
c.*849+1453G= (n.*849+1453G=)
c.1300G= (p.Ala434=)
22g.43946248G>TCA10278250PNPLA3c.1312G>T (p.Ala438Ser)
c.*849+1453G>T (n.*849+1453G>T)
c.1300G>T (p.Ala434Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.43946249C>ACA411847704PNPLA3c.1313C>A (p.Ala438Glu)
c.*849+1454C>A (n.*849+1454C>A)
c.1301C>A (p.Ala434Glu)
22g.43946249C>GCA411847706PNPLA3c.1313C>G (p.Ala438Gly)
c.*849+1454C>G (n.*849+1454C>G)
c.1301C>G (p.Ala434Gly)
22g.43946249C>TCA411847703PNPLA3c.1313C>T (p.Ala438Val)
c.*849+1454C>T (n.*849+1454C>T)
c.1301C>T (p.Ala434Val)
gnomAD v4
22g.43946250A>CCA515083167PNPLA3c.1314A>C (p.Ala438=)
c.*849+1455A>C (n.*849+1455A>C)
c.1302A>C (p.Ala434=)
22g.43946250A>GCA515083168PNPLA3c.1314A>G (p.Ala438=)
c.*849+1455A>G (n.*849+1455A>G)
c.1302A>G (p.Ala434=)
22g.43946250A>TCA515083171PNPLA3c.1314A>T (p.Ala438=)
c.*849+1455A>T (n.*849+1455A>T)
c.1302A>T (p.Ala434=)
22g.43946251G>ACA10278251PNPLA3c.1315G>A (p.Glu439Lys)
c.*849+1456G>A (n.*849+1456G>A)
c.1303G>A (p.Glu435Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.43946251G>CCA411847710PNPLA3c.1315G>C (p.Glu439Gln)
c.*849+1456G>C (n.*849+1456G>C)
c.1303G>C (p.Glu435Gln)
22g.43946251G=CA2407489672PNPLA3c.1315G= (p.Glu439=)
c.*849+1456G= (n.*849+1456G=)
c.1303G= (p.Glu435=)
22g.43946251G>TCA411847709PNPLA3c.1315G>T (p.Glu439Ter)
c.*849+1456G>T (n.*849+1456G>T)
c.1303G>T (p.Glu435Ter)
22g.43946252A>CCA411847712PNPLA3c.1316A>C (p.Glu439Ala)
c.*849+1457A>C (n.*849+1457A>C)
c.1304A>C (p.Glu435Ala)
22g.43946252A>GCA411847715PNPLA3c.1316A>G (p.Glu439Gly)
c.*849+1457A>G (n.*849+1457A>G)
c.1304A>G (p.Glu435Gly)
22g.43946252A>TCA411847713PNPLA3c.1316A>T (p.Glu439Val)
c.*849+1457A>T (n.*849+1457A>T)
c.1304A>T (p.Glu435Val)
22g.43946253G>ACA515083187PNPLA3c.1317G>A (p.Glu439=)
c.*849+1458G>A (n.*849+1458G>A)
c.1305G>A (p.Glu435=)
dbSNP gnomAD v2 gnomAD v4
22g.43946253G>CCA411847716PNPLA3c.1317G>C (p.Glu439Asp)
c.*849+1458G>C (n.*849+1458G>C)
c.1305G>C (p.Glu435Asp)
22g.43946253G=CA2407489673PNPLA3c.1317G= (p.Glu439=)
c.*849+1458G= (n.*849+1458G=)
c.1305G= (p.Glu435=)
22g.43946253G>TCA411847717PNPLA3c.1317G>T (p.Glu439Asp)
c.*849+1458G>T (n.*849+1458G>T)
c.1305G>T (p.Glu435Asp)
22g.43946254A>CCA411847719PNPLA3c.1318A>C (p.Thr440Pro)
c.*849+1459A>C (n.*849+1459A>C)
c.1306A>C (p.Thr436Pro)
22g.43946254A>GCA411847723PNPLA3c.1318A>G (p.Thr440Ala)
c.*849+1459A>G (n.*849+1459A>G)
c.1306A>G (p.Thr436Ala)
22g.43946254A>TCA411847724PNPLA3c.1318A>T (p.Thr440Ser)
c.*849+1459A>T (n.*849+1459A>T)
c.1306A>T (p.Thr436Ser)
22g.43946255C>ACA411847726PNPLA3c.1319C>A (p.Thr440Asn)
c.*849+1460C>A (n.*849+1460C>A)
c.1307C>A (p.Thr436Asn)
dbSNP
22g.43946255C=CA2407489674PNPLA3c.1319C= (p.Thr440=)
c.*849+1460C= (n.*849+1460C=)
c.1307C= (p.Thr436=)
22g.43946255C>GCA411847727PNPLA3c.1319C>G (p.Thr440Ser)
c.*849+1460C>G (n.*849+1460C>G)
c.1307C>G (p.Thr436Ser)
22g.43946255C>TCA411847729PNPLA3c.1319C>T (p.Thr440Ile)
c.*849+1460C>T (n.*849+1460C>T)
c.1307C>T (p.Thr436Ile)
gnomAD v4
22g.43946256C>ACA515083208PNPLA3c.1320C>A (p.Thr440=)
c.*849+1461C>A (n.*849+1461C>A)
c.1308C>A (p.Thr436=)
22g.43946256C>GCA515083211PNPLA3c.1320C>G (p.Thr440=)
c.*849+1461C>G (n.*849+1461C>G)
c.1308C>G (p.Thr436=)
22g.43946256C>TCA515083213PNPLA3c.1320C>T (p.Thr440=)
c.*849+1461C>T (n.*849+1461C>T)
c.1308C>T (p.Thr436=)
22g.43946256_43946257delinsCACA2407489675PNPLA3c.1320_1321delinsCA (p.Thr440=)
c.*849+1461_*849+1462delinsCA (n.*849+1461_*849+1462delinsCA)
c.1308_1309delinsCA (p.Thr436=)
22g.43946257A>CCA411847731PNPLA3c.1321A>C (p.Lys441Gln)
c.*849+1462A>C (n.*849+1462A>C)
c.1309A>C (p.Lys437Gln)
22g.43946257A>GCA411847733PNPLA3c.1321A>G (p.Lys441Glu)
c.*849+1462A>G (n.*849+1462A>G)
c.1309A>G (p.Lys437Glu)
gnomAD v4
22g.43946257A>TCA411847734PNPLA3c.1321A>T (p.Lys441Ter)
c.*849+1462A>T (n.*849+1462A>T)
c.1309A>T (p.Lys437Ter)
22g.43946259delCA639830747PNPLA3c.1323del (p.Ala442GlnfsTer13)
c.*849+1464del (n.*849+1464del)
c.1311del (p.Ala438GlnfsTer13)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.43946258A>CCA411847737PNPLA3c.1322A>C (p.Lys441Thr)
c.*849+1463A>C (n.*849+1463A>C)
c.1310A>C (p.Lys437Thr)
22g.43946258A>GCA411847739PNPLA3c.1322A>G (p.Lys441Arg)
c.*849+1463A>G (n.*849+1463A>G)
c.1310A>G (p.Lys437Arg)
22g.43946258A>TCA411847741PNPLA3c.1322A>T (p.Lys441Ile)
c.*849+1463A>T (n.*849+1463A>T)
c.1310A>T (p.Lys437Ile)
22g.43946259A>CCA411847746PNPLA3c.1323A>C (p.Lys441Asn)
c.*849+1464A>C (n.*849+1464A>C)
c.1311A>C (p.Lys437Asn)
22g.43946259A>GCA515083233PNPLA3c.1323A>G (p.Lys441=)
c.*849+1464A>G (n.*849+1464A>G)
c.1311A>G (p.Lys437=)
22g.43946259A>TCA411847743PNPLA3c.1323A>T (p.Lys441Asn)
c.*849+1464A>T (n.*849+1464A>T)
c.1311A>T (p.Lys437Asn)
22g.43946260G>ACA411847747PNPLA3c.1324G>A (p.Ala442Thr)
c.*849+1465G>A (n.*849+1465G>A)
c.1312G>A (p.Ala438Thr)
gnomAD v4
22g.43946260G>CCA411847749PNPLA3c.1324G>C (p.Ala442Pro)
c.*849+1465G>C (n.*849+1465G>C)
c.1312G>C (p.Ala438Pro)
22g.43946260G>TCA411847752PNPLA3c.1324G>T (p.Ala442Ser)
c.*849+1465G>T (n.*849+1465G>T)
c.1312G>T (p.Ala438Ser)
22g.43946262_43946275delCA2657154794PNPLA3c.1326_1339del (p.Glu443ValfsTer14)
c.*849+1467_*849+1480del (n.*849+1467_*849+1480del)
c.1314_1327del (p.Glu439ValfsTer14)
gnomAD v4
22g.43946261C>ACA411847755PNPLA3c.1325C>A (p.Ala442Glu)
c.*849+1466C>A (n.*849+1466C>A)
c.1313C>A (p.Ala438Glu)
22g.43946261C>GCA411847756PNPLA3c.1325C>G (p.Ala442Gly)
c.*849+1466C>G (n.*849+1466C>G)
c.1313C>G (p.Ala438Gly)
22g.43946261C>TCA411847757PNPLA3c.1325C>T (p.Ala442Val)
c.*849+1466C>T (n.*849+1466C>T)
c.1313C>T (p.Ala438Val)
22g.43946262A=CA2407489676PNPLA3c.1326A= (p.Ala442=)
c.*849+1467A= (n.*849+1467A=)
c.1314A= (p.Ala438=)
22g.43946262A>CCA515083244PNPLA3c.1326A>C (p.Ala442=)
c.*849+1467A>C (n.*849+1467A>C)
c.1314A>C (p.Ala438=)
dbSNP
22g.43946262A>GCA515083246PNPLA3c.1326A>G (p.Ala442=)
c.*849+1467A>G (n.*849+1467A>G)
c.1314A>G (p.Ala438=)
22g.43946262A>TCA515083248PNPLA3c.1326A>T (p.Ala442=)
c.*849+1467A>T (n.*849+1467A>T)
c.1314A>T (p.Ala438=)
22g.43946263G>ACA411847759PNPLA3c.1327G>A (p.Glu443Lys)
c.*849+1468G>A (n.*849+1468G>A)
c.1315G>A (p.Glu439Lys)
22g.43946263G>CCA411847762PNPLA3c.1327G>C (p.Glu443Gln)
c.*849+1468G>C (n.*849+1468G>C)
c.1315G>C (p.Glu439Gln)
22g.43946263G>TCA411847764PNPLA3c.1327G>T (p.Glu443Ter)
c.*849+1468G>T (n.*849+1468G>T)
c.1315G>T (p.Glu439Ter)
22g.43946264A>CCA411847767PNPLA3c.1328A>C (p.Glu443Ala)
c.*849+1469A>C (n.*849+1469A>C)
c.1316A>C (p.Glu439Ala)
22g.43946264A>GCA411847769PNPLA3c.1328A>G (p.Glu443Gly)
c.*849+1469A>G (n.*849+1469A>G)
c.1316A>G (p.Glu439Gly)
22g.43946264A>TCA411847770PNPLA3c.1328A>T (p.Glu443Val)
c.*849+1469A>T (n.*849+1469A>T)
c.1316A>T (p.Glu439Val)
COSMIC
22g.43946265G>ACA515083261PNPLA3c.1329G>A (p.Glu443=)
c.*849+1470G>A (n.*849+1470G>A)
c.1317G>A (p.Glu439=)
gnomAD v4
22g.43946265G>CCA411847772PNPLA3c.1329G>C (p.Glu443Asp)
c.*849+1470G>C (n.*849+1470G>C)
c.1317G>C (p.Glu439Asp)
22g.43946265G>TCA411847777PNPLA3c.1329G>T (p.Glu443Asp)
c.*849+1470G>T (n.*849+1470G>T)
c.1317G>T (p.Glu439Asp)
22g.43946266G>ACA324869415PNPLA3c.1330G>A (p.Ala444Thr)
c.*849+1471G>A (n.*849+1471G>A)
c.1318G>A (p.Ala440Thr)
dbSNP gnomAD v3 gnomAD v4
22g.43946266G>CCA411847780PNPLA3c.1330G>C (p.Ala444Pro)
c.*849+1471G>C (n.*849+1471G>C)
c.1318G>C (p.Ala440Pro)
22g.43946266G=CA2407489677PNPLA3c.1330G= (p.Ala444=)
c.*849+1471G= (n.*849+1471G=)
c.1318G= (p.Ala440=)
22g.43946266G>TCA411847781PNPLA3c.1330G>T (p.Ala444Ser)
c.*849+1471G>T (n.*849+1471G>T)
c.1318G>T (p.Ala440Ser)
22g.43946267C>ACA411847783PNPLA3c.1331C>A (p.Ala444Asp)
c.*849+1472C>A (n.*849+1472C>A)
c.1319C>A (p.Ala440Asp)
22g.43946267C=CA2407489678PNPLA3c.1331C= (p.Ala444=)
c.*849+1472C= (n.*849+1472C=)
c.1319C= (p.Ala440=)
22g.43946267C>GCA411847784PNPLA3c.1331C>G (p.Ala444Gly)
c.*849+1472C>G (n.*849+1472C>G)
c.1319C>G (p.Ala440Gly)
gnomAD v4
22g.43946267C>TCA324869416PNPLA3c.1331C>T (p.Ala444Val)
c.*849+1472C>T (n.*849+1472C>T)
c.1319C>T (p.Ala440Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.43946268C>ACA515083273PNPLA3c.1332C>A (p.Ala444=)
c.*849+1473C>A (n.*849+1473C>A)
c.1320C>A (p.Ala440=)
22g.43946268C>GCA515083276PNPLA3c.1332C>G (p.Ala444=)
c.*849+1473C>G (n.*849+1473C>G)
c.1320C>G (p.Ala440=)
22g.43946268C>TCA515083278PNPLA3c.1332C>T (p.Ala444=)
c.*849+1473C>T (n.*849+1473C>T)
c.1320C>T (p.Ala440=)
gnomAD v4
22g.43946269A=CA2407489679PNPLA3c.1333A= (p.Thr445=)
c.*849+1474A= (n.*849+1474A=)
c.1321A= (p.Thr441=)
22g.43946269A>CCA411847787PNPLA3c.1333A>C (p.Thr445Pro)
c.*849+1474A>C (n.*849+1474A>C)
c.1321A>C (p.Thr441Pro)
22g.43946269A>GCA411847788PNPLA3c.1333A>G (p.Thr445Ala)
c.*849+1474A>G (n.*849+1474A>G)
c.1321A>G (p.Thr441Ala)
dbSNP
22g.43946269A>TCA411847790PNPLA3c.1333A>T (p.Thr445Ser)
c.*849+1474A>T (n.*849+1474A>T)
c.1321A>T (p.Thr441Ser)
22g.43946270C>ACA10278254PNPLA3c.1334C>A (p.Thr445Asn)
c.*849+1475C>A (n.*849+1475C>A)
c.1322C>A (p.Thr441Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.43946270C=CA2407489680PNPLA3c.1334C= (p.Thr445=)
c.*849+1475C= (n.*849+1475C=)
c.1322C= (p.Thr441=)
22g.43946270C>GCA411847793PNPLA3c.1334C>G (p.Thr445Ser)
c.*849+1475C>G (n.*849+1475C>G)
c.1322C>G (p.Thr441Ser)
22g.43946270C>TCA10278253PNPLA3c.1334C>T (p.Thr445Ile)
c.*849+1475C>T (n.*849+1475C>T)
c.1322C>T (p.Thr441Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.43946272_43946273dupCA10278252PNPLA3c.1336_1337dup (p.Ser448GlyfsTer8)
c.*849+1477_*849+1478dup (n.*849+1477_*849+1478dup)
c.1324_1325dup (p.Ser444GlyfsTer8)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.43946271C>ACA10278255PNPLA3c.1335C>A (p.Thr445=)
c.*849+1476C>A (n.*849+1476C>A)
c.1323C>A (p.Thr441=)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.43946271C=CA2407489681PNPLA3c.1335C= (p.Thr445=)
c.*849+1476C= (n.*849+1476C=)
c.1323C= (p.Thr441=)
22g.43946271C>GCA515083294PNPLA3c.1335C>G (p.Thr445=)
c.*849+1476C>G (n.*849+1476C>G)
c.1323C>G (p.Thr441=)
gnomAD v4
22g.43946271C>TCA515083298PNPLA3c.1335C>T (p.Thr445=)
c.*849+1476C>T (n.*849+1476C>T)
c.1323C>T (p.Thr441=)
22g.43946272C>ACA411847796PNPLA3c.1336C>A (p.Pro446Thr)
c.*849+1477C>A (n.*849+1477C>A)
c.1324C>A (p.Pro442Thr)
22g.43946272C=CA2407489682PNPLA3c.1336C= (p.Pro446=)
c.*849+1477C= (n.*849+1477C=)
c.1324C= (p.Pro442=)
22g.43946272C>GCA411847798PNPLA3c.1336C>G (p.Pro446Ala)
c.*849+1477C>G (n.*849+1477C>G)
c.1324C>G (p.Pro442Ala)
22g.43946272C>TCA411847799PNPLA3c.1336C>T (p.Pro446Ser)
c.*849+1477C>T (n.*849+1477C>T)
c.1324C>T (p.Pro442Ser)
dbSNP
22g.43946273C>ACA411847801PNPLA3c.1337C>A (p.Pro446Gln)
c.*849+1478C>A (n.*849+1478C>A)
c.1325C>A (p.Pro442Gln)
22g.43946273C=CA2407489683PNPLA3c.1337C= (p.Pro446=)
c.*849+1478C= (n.*849+1478C=)
c.1325C= (p.Pro442=)
22g.43946273C>GCA411847803PNPLA3c.1337C>G (p.Pro446Arg)
c.*849+1478C>G (n.*849+1478C>G)
c.1325C>G (p.Pro442Arg)
22g.43946273C>TCA10278256PNPLA3c.1337C>T (p.Pro446Leu)
c.*849+1478C>T (n.*849+1478C>T)
c.1325C>T (p.Pro442Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.43946274G>ACA10278257PNPLA3c.1338G>A (p.Pro446=)
c.*849+1479G>A (n.*849+1479G>A)
c.1326G>A (p.Pro442=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.43946274G>CCA515083310PNPLA3c.1338G>C (p.Pro446=)
c.*849+1479G>C (n.*849+1479G>C)
c.1326G>C (p.Pro442=)
22g.43946274G=CA2407489684PNPLA3c.1338G= (p.Pro446=)
c.*849+1479G= (n.*849+1479G=)
c.1326G= (p.Pro442=)
22g.43946274G>TCA515083312PNPLA3c.1338G>T (p.Pro446=)
c.*849+1479G>T (n.*849+1479G>T)
c.1326G>T (p.Pro442=)
22g.43946275C>ACA515083315PNPLA3c.1339C>A (p.Arg447=)
c.*849+1480C>A (n.*849+1480C>A)
c.1327C>A (p.Arg443=)
22g.43946275C=CA2407489685PNPLA3c.1339C= (p.Arg447=)
c.*849+1480C= (n.*849+1480C=)
c.1327C= (p.Arg443=)
22g.43946275C>GCA411847805PNPLA3c.1339C>G (p.Arg447Gly)
c.*849+1480C>G (n.*849+1480C>G)
c.1327C>G (p.Arg443Gly)
22g.43946275C>TCA10278258PNPLA3c.1339C>T (p.Arg447Trp)
c.*849+1480C>T (n.*849+1480C>T)
c.1327C>T (p.Arg443Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.43946275_43946287delinsCGGTCCATCCTCACA2407489686PNPLA3c.1339_1351delinsCGGTCCATCCTCA (p.Arg447=)
c.*849+1480_*849+1492delinsCGGTCCATCCTCA (n.*849+1480_*849+1492delinsCGGTCCATCCTCA)
c.1327_1339delinsCGGTCCATCCTCA (p.Arg443=)
22g.43946276G>ACA10278259PNPLA3c.1340G>A (p.Arg447Gln)
c.*849+1481G>A (n.*849+1481G>A)
c.1328G>A (p.Arg443Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.43946276G>CCA10278260PNPLA3c.1340G>C (p.Arg447Pro)
c.*849+1481G>C (n.*849+1481G>C)
c.1328G>C (p.Arg443Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.43946276G=CA2407489688PNPLA3c.1340G= (p.Arg447=)
c.*849+1481G= (n.*849+1481G=)
c.1328G= (p.Arg443=)
22g.43946276G>TCA411847810PNPLA3c.1340G>T (p.Arg447Leu)
c.*849+1481G>T (n.*849+1481G>T)
c.1328G>T (p.Arg443Leu)
22g.43946282_43946293delCA2407489687PNPLA3c.1346_1357del (p.Ile449_Ser452del)
c.*849+1487_*849+1498del (n.*849+1487_*849+1498del)
c.1334_1345del (p.Ile445_Ser448del)
dbSNP
22g.43946277G>ACA515083325PNPLA3c.1341G>A (p.Arg447=)
c.*849+1482G>A (n.*849+1482G>A)
c.1329G>A (p.Arg443=)
gnomAD v4
22g.43946277G>CCA515083327PNPLA3c.1341G>C (p.Arg447=)
c.*849+1482G>C (n.*849+1482G>C)
c.1329G>C (p.Arg443=)
22g.43946277G>TCA515083329PNPLA3c.1341G>T (p.Arg447=)
c.*849+1482G>T (n.*849+1482G>T)
c.1329G>T (p.Arg443=)
22g.43946278T>ACA411847813PNPLA3c.1342T>A (p.Ser448Thr)
c.*849+1483T>A (n.*849+1483T>A)
c.1330T>A (p.Ser444Thr)
gnomAD v4
22g.43946278T>CCA411847815PNPLA3c.1342T>C (p.Ser448Pro)
c.*849+1483T>C (n.*849+1483T>C)
c.1330T>C (p.Ser444Pro)
22g.43946278T>GCA411847812PNPLA3c.1342T>G (p.Ser448Ala)
c.*849+1483T>G (n.*849+1483T>G)
c.1330T>G (p.Ser444Ala)
dbSNP gnomAD v3 gnomAD v4
22g.43946278T=CA2407489689PNPLA3c.1342T= (p.Ser448=)
c.*849+1483T= (n.*849+1483T=)
c.1330T= (p.Ser444=)
22g.43946279C>ACA10278261PNPLA3c.1343C>A (p.Ser448Tyr)
c.*849+1484C>A (n.*849+1484C>A)
c.1331C>A (p.Ser444Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.43946279C=CA2407489690PNPLA3c.1343C= (p.Ser448=)
c.*849+1484C= (n.*849+1484C=)
c.1331C= (p.Ser444=)
22g.43946279C>GCA411847817PNPLA3c.1343C>G (p.Ser448Cys)
c.*849+1484C>G (n.*849+1484C>G)
c.1331C>G (p.Ser444Cys)
22g.43946279C>TCA411847819PNPLA3c.1343C>T (p.Ser448Phe)
c.*849+1484C>T (n.*849+1484C>T)
c.1331C>T (p.Ser444Phe)
22g.43946280C>ACA515083332PNPLA3c.1344C>A (p.Ser448=)
c.*849+1485C>A (n.*849+1485C>A)
c.1332C>A (p.Ser444=)
22g.43946280C>GCA515083333PNPLA3c.1344C>G (p.Ser448=)
c.*849+1485C>G (n.*849+1485C>G)
c.1332C>G (p.Ser444=)
22g.43946280C>TCA515083331PNPLA3c.1344C>T (p.Ser448=)
c.*849+1485C>T (n.*849+1485C>T)
c.1332C>T (p.Ser444=)
22g.43946281A=CA2407489691PNPLA3c.1345A= (p.Ile449=)
c.*849+1486A= (n.*849+1486A=)
c.1333A= (p.Ile445=)
22g.43946281A>CCA411847820PNPLA3c.1345A>C (p.Ile449Leu)
c.*849+1486A>C (n.*849+1486A>C)
c.1333A>C (p.Ile445Leu)
22g.43946281A>GCA411847822PNPLA3c.1345A>G (p.Ile449Val)
c.*849+1486A>G (n.*849+1486A>G)
c.1333A>G (p.Ile445Val)
dbSNP gnomAD v4
22g.43946281A>TCA411847823PNPLA3c.1345A>T (p.Ile449Phe)
c.*849+1486A>T (n.*849+1486A>T)
c.1333A>T (p.Ile445Phe)
22g.43946282T>ACA411847825PNPLA3c.1346T>A (p.Ile449Asn)
c.*849+1487T>A (n.*849+1487T>A)
c.1334T>A (p.Ile445Asn)
22g.43946282T>CCA411847828PNPLA3c.1346T>C (p.Ile449Thr)
c.*849+1487T>C (n.*849+1487T>C)
c.1334T>C (p.Ile445Thr)
22g.43946282T>GCA411847826PNPLA3c.1346T>G (p.Ile449Ser)
c.*849+1487T>G (n.*849+1487T>G)
c.1334T>G (p.Ile445Ser)
gnomAD v4
22g.43946283C>ACA515083338PNPLA3c.1347C>A (p.Ile449=)
c.*849+1488C>A (n.*849+1488C>A)
c.1335C>A (p.Ile445=)
22g.43946283C=CA2407489692PNPLA3c.1347C= (p.Ile449=)
c.*849+1488C= (n.*849+1488C=)
c.1335C= (p.Ile445=)
22g.43946283C>GCA411847829PNPLA3c.1347C>G (p.Ile449Met)
c.*849+1488C>G (n.*849+1488C>G)
c.1335C>G (p.Ile445Met)
22g.43946283C>TCA515083341PNPLA3c.1347C>T (p.Ile449=)
c.*849+1488C>T (n.*849+1488C>T)
c.1335C>T (p.Ile445=)
dbSNP
22g.43946284C>ACA411847831PNPLA3c.1348C>A (p.Leu450Ile)
c.*849+1489C>A (n.*849+1489C>A)
c.1336C>A (p.Leu446Ile)
22g.43946284C=CA2407489693PNPLA3c.1348C= (p.Leu450=)
c.*849+1489C= (n.*849+1489C=)
c.1336C= (p.Leu446=)
22g.43946284C>GCA411847832PNPLA3c.1348C>G (p.Leu450Val)
c.*849+1489C>G (n.*849+1489C>G)
c.1336C>G (p.Leu446Val)
22g.43946284C>TCA10278262PNPLA3c.1348C>T (p.Leu450Phe)
c.*849+1489C>T (n.*849+1489C>T)
c.1336C>T (p.Leu446Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.43946285T>ACA411847838PNPLA3c.1349T>A (p.Leu450His)
c.*849+1490T>A (n.*849+1490T>A)
c.1337T>A (p.Leu446His)
22g.43946285T>CCA411847834PNPLA3c.1349T>C (p.Leu450Pro)
c.*849+1490T>C (n.*849+1490T>C)
c.1337T>C (p.Leu446Pro)
22g.43946285T>GCA411847836PNPLA3c.1349T>G (p.Leu450Arg)
c.*849+1490T>G (n.*849+1490T>G)
c.1337T>G (p.Leu446Arg)
22g.43946286C>ACA515083352PNPLA3c.1350C>A (p.Leu450=)
c.*849+1491C>A (n.*849+1491C>A)
c.1338C>A (p.Leu446=)
22g.43946286C>GCA515083354PNPLA3c.1350C>G (p.Leu450=)
c.*849+1491C>G (n.*849+1491C>G)
c.1338C>G (p.Leu446=)
22g.43946286C>TCA515083357PNPLA3c.1350C>T (p.Leu450=)
c.*849+1491C>T (n.*849+1491C>T)
c.1338C>T (p.Leu446=)
22g.43946287A=CA2407489694PNPLA3c.1351A= (p.Arg451=)
c.*849+1492A= (n.*849+1492A=)
c.1339A= (p.Arg447=)
22g.43946287A>CCA515083360PNPLA3c.1351A>C (p.Arg451=)
c.*849+1492A>C (n.*849+1492A>C)
c.1339A>C (p.Arg447=)
22g.43946287A>GCA411847839PNPLA3c.1351A>G (p.Arg451Gly)
c.*849+1492A>G (n.*849+1492A>G)
c.1339A>G (p.Arg447Gly)
dbSNP gnomAD v2 gnomAD v4
22g.43946287A>TCA10278263PNPLA3c.1351A>T (p.Arg451Trp)
c.*849+1492A>T (n.*849+1492A>T)
c.1339A>T (p.Arg447Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.43946288G>ACA411847842PNPLA3c.1352G>A (p.Arg451Lys)
c.*849+1493G>A (n.*849+1493G>A)
c.1340G>A (p.Arg447Lys)
22g.43946288G>CCA411847843PNPLA3c.1352G>C (p.Arg451Thr)
c.*849+1493G>C (n.*849+1493G>C)
c.1340G>C (p.Arg447Thr)
dbSNP
22g.43946288G=CA2407489695PNPLA3c.1352G= (p.Arg451=)
c.*849+1493G= (n.*849+1493G=)
c.1340G= (p.Arg447=)
22g.43946288G>TCA411847845PNPLA3c.1352G>T (p.Arg451Met)
c.*849+1493G>T (n.*849+1493G>T)
c.1340G>T (p.Arg447Met)
22g.43946289G>ACA515083377PNPLA3c.1353G>A (p.Arg451=)
c.*849+1494G>A (n.*849+1494G>A)
c.1341G>A (p.Arg447=)
22g.43946289G>CCA411847847PNPLA3c.1353G>C (p.Arg451Ser)
c.*849+1494G>C (n.*849+1494G>C)
c.1341G>C (p.Arg447Ser)
22g.43946289G>TCA411847848PNPLA3c.1353G>T (p.Arg451Ser)
c.*849+1494G>T (n.*849+1494G>T)
c.1341G>T (p.Arg447Ser)
22g.43946290T>ACA411847850PNPLA3c.1354T>A (p.Ser452Thr)
c.*849+1495T>A (n.*849+1495T>A)
c.1342T>A (p.Ser448Thr)
22g.43946290T>CCA411847852PNPLA3c.1354T>C (p.Ser452Pro)
c.*849+1495T>C (n.*849+1495T>C)
c.1342T>C (p.Ser448Pro)
22g.43946290T>GCA411847853PNPLA3c.1354T>G (p.Ser452Ala)
c.*849+1495T>G (n.*849+1495T>G)
c.1342T>G (p.Ser448Ala)
22g.43946291C>ACA411847856PNPLA3c.1355C>A (p.Ser452Tyr)
c.*849+1496C>A (n.*849+1496C>A)
c.1343C>A (p.Ser448Tyr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.43946291C=CA2407489696PNPLA3c.1355C= (p.Ser452=)
c.*849+1496C= (n.*849+1496C=)
c.1343C= (p.Ser448=)
22g.43946291C>GCA411847857PNPLA3c.1355C>G (p.Ser452Cys)
c.*849+1496C>G (n.*849+1496C>G)
c.1343C>G (p.Ser448Cys)
dbSNP gnomAD v2 gnomAD v4
22g.43946291C>TCA411847859PNPLA3c.1355C>T (p.Ser452Phe)
c.*849+1496C>T (n.*849+1496C>T)
c.1343C>T (p.Ser448Phe)
22g.43946292C>ACA515083389PNPLA3c.1356C>A (p.Ser452=)
c.*849+1497C>A (n.*849+1497C>A)
c.1344C>A (p.Ser448=)
22g.43946292C>GCA515083392PNPLA3c.1356C>G (p.Ser452=)
c.*849+1497C>G (n.*849+1497C>G)
c.1344C>G (p.Ser448=)
22g.43946292C>TCA515083395PNPLA3c.1356C>T (p.Ser452=)
c.*849+1497C>T (n.*849+1497C>T)
c.1344C>T (p.Ser448=)
gnomAD v4
22g.43946293A=CA2407489697PNPLA3c.1357A= (p.Ser453=)
c.*849+1498A= (n.*849+1498A=)
c.1345A= (p.Ser449=)
22g.43946293A>CCA411847861PNPLA3c.1357A>C (p.Ser453Arg)
c.*849+1498A>C (n.*849+1498A>C)
c.1345A>C (p.Ser449Arg)
22g.43946293A>GCA324869417PNPLA3c.1357A>G (p.Ser453Gly)
c.*849+1498A>G (n.*849+1498A>G)
c.1345A>G (p.Ser449Gly)
dbSNP gnomAD v4
22g.43946293A>TCA411847862PNPLA3c.1357A>T (p.Ser453Cys)
c.*849+1498A>T (n.*849+1498A>T)
c.1345A>T (p.Ser449Cys)
22g.43946294G>ACA411847864PNPLA3c.1358G>A (p.Ser453Asn)
c.*849+1499G>A (n.*849+1499G>A)
c.1346G>A (p.Ser449Asn)
22g.43946294G>CCA411847866PNPLA3c.1358G>C (p.Ser453Thr)
c.*849+1499G>C (n.*849+1499G>C)
c.1346G>C (p.Ser449Thr)
22g.43946294G=CA2407489698PNPLA3c.1358G= (p.Ser453=)
c.*849+1499G= (n.*849+1499G=)
c.1346G= (p.Ser449=)
22g.43946294G>TCA10278264PNPLA3c.1358G>T (p.Ser453Ile)
c.*849+1499G>T (n.*849+1499G>T)
c.1346G>T (p.Ser449Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.43946295C>ACA411847869PNPLA3c.1359C>A (p.Ser453Arg)
c.*849+1500C>A (n.*849+1500C>A)
c.1347C>A (p.Ser449Arg)
gnomAD v4
22g.43946295C=CA2407489699PNPLA3c.1359C= (p.Ser453=)
c.*849+1500C= (n.*849+1500C=)
c.1347C= (p.Ser449=)
22g.43946295C>GCA10278265PNPLA3c.1359C>G (p.Ser453Arg)
c.*849+1500C>G (n.*849+1500C>G)
c.1347C>G (p.Ser449Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.43946295C>TCA10278266PNPLA3c.1359C>T (p.Ser453=)
c.*849+1500C>T (n.*849+1500C>T)
c.1347C>T (p.Ser449=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.43946296C>ACA411847875PNPLA3c.1360C>A (p.Leu454Met)
c.*849+1501C>A (n.*849+1501C>A)
c.1348C>A (p.Leu450Met)
22g.43946296C=CA2407489700PNPLA3c.1360C= (p.Leu454=)
c.*849+1501C= (n.*849+1501C=)
c.1348C= (p.Leu450=)
22g.43946296C>GCA411847874PNPLA3c.1360C>G (p.Leu454Val)
c.*849+1501C>G (n.*849+1501C>G)
c.1348C>G (p.Leu450Val)
dbSNP gnomAD v3 gnomAD v4
22g.43946296C>TCA515083416PNPLA3c.1360C>T (p.Leu454=)
c.*849+1501C>T (n.*849+1501C>T)
c.1348C>T (p.Leu450=)
22g.43946297T>ACA411847877PNPLA3c.1361T>A (p.Leu454Gln)
c.*849+1502T>A (n.*849+1502T>A)
c.1349T>A (p.Leu450Gln)
22g.43946297T>CCA411847879PNPLA3c.1361T>C (p.Leu454Pro)
c.*849+1502T>C (n.*849+1502T>C)
c.1349T>C (p.Leu450Pro)
22g.43946297T>GCA411847881PNPLA3c.1361T>G (p.Leu454Arg)
c.*849+1502T>G (n.*849+1502T>G)
c.1349T>G (p.Leu450Arg)
22g.43946298G>ACA515083424PNPLA3c.1362G>A (p.Leu454=)
c.*849+1503G>A (n.*849+1503G>A)
c.1350G>A (p.Leu450=)
22g.43946298G>CCA515083426PNPLA3c.1362G>C (p.Leu454=)
c.*849+1503G>C (n.*849+1503G>C)
c.1350G>C (p.Leu450=)
dbSNP gnomAD v3 gnomAD v4
22g.43946298G=CA2407489701PNPLA3c.1362G= (p.Leu454=)
c.*849+1503G= (n.*849+1503G=)
c.1350G= (p.Leu450=)
22g.43946298G>TCA515083428PNPLA3c.1362G>T (p.Leu454=)
c.*849+1503G>T (n.*849+1503G>T)
c.1350G>T (p.Leu450=)

Number of alleles fetched