Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.43946198C>A | CA411847525 | PNPLA3 | c.1262C>A (p.Pro421His) c.*849+1403C>A (n.*849+1403C>A) c.1250C>A (p.Pro417His) | |
22 | g.43946198C= | CA2407489647 | PNPLA3 | c.1262C= (p.Pro421=) c.*849+1403C= (n.*849+1403C=) c.1250C= (p.Pro417=) | |
22 | g.43946198C>G | CA10278240 | PNPLA3 | c.1262C>G (p.Pro421Arg) c.*849+1403C>G (n.*849+1403C>G) c.1250C>G (p.Pro417Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.43946198C>T | CA411847528 | PNPLA3 | c.1262C>T (p.Pro421Leu) c.*849+1403C>T (n.*849+1403C>T) c.1250C>T (p.Pro417Leu) | ClinVar dbSNP |
22 | g.43946199T>A | CA515082902 | PNPLA3 | c.1263T>A (p.Pro421=) c.*849+1404T>A (n.*849+1404T>A) c.1251T>A (p.Pro417=) | |
22 | g.43946199T>C | CA515082904 | PNPLA3 | c.1263T>C (p.Pro421=) c.*849+1404T>C (n.*849+1404T>C) c.1251T>C (p.Pro417=) | |
22 | g.43946199T>G | CA515082906 | PNPLA3 | c.1263T>G (p.Pro421=) c.*849+1404T>G (n.*849+1404T>G) c.1251T>G (p.Pro417=) | |
22 | g.43946200G>A | CA411847529 | PNPLA3 | c.1264G>A (p.Glu422Lys) c.*849+1405G>A (n.*849+1405G>A) c.1252G>A (p.Glu418Lys) | |
22 | g.43946200G>C | CA10278241 | PNPLA3 | c.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 |
22 | g.43946200G= | CA2407489648 | PNPLA3 | c.1264G= (p.Glu422=) c.*849+1405G= (n.*849+1405G=) c.1252G= (p.Glu418=) | |
22 | g.43946200G>T | CA411847530 | PNPLA3 | c.1264G>T (p.Glu422Ter) c.*849+1405G>T (n.*849+1405G>T) c.1252G>T (p.Glu418Ter) | |
22 | g.43946201A>C | CA411847534 | PNPLA3 | c.1265A>C (p.Glu422Ala) c.*849+1406A>C (n.*849+1406A>C) c.1253A>C (p.Glu418Ala) | |
22 | g.43946201A>G | CA411847531 | PNPLA3 | c.1265A>G (p.Glu422Gly) c.*849+1406A>G (n.*849+1406A>G) c.1253A>G (p.Glu418Gly) | |
22 | g.43946201A>T | CA411847532 | PNPLA3 | c.1265A>T (p.Glu422Val) c.*849+1406A>T (n.*849+1406A>T) c.1253A>T (p.Glu418Val) | |
22 | g.43946202G>A | CA515082914 | PNPLA3 | c.1266G>A (p.Glu422=) c.*849+1407G>A (n.*849+1407G>A) c.1254G>A (p.Glu418=) | |
22 | g.43946202G>C | CA411847535 | PNPLA3 | c.1266G>C (p.Glu422Asp) c.*849+1407G>C (n.*849+1407G>C) c.1254G>C (p.Glu418Asp) | |
22 | g.43946202G= | CA2407489649 | PNPLA3 | c.1266G= (p.Glu422=) c.*849+1407G= (n.*849+1407G=) c.1254G= (p.Glu418=) | |
22 | g.43946202G>T | CA411847536 | PNPLA3 | c.1266G>T (p.Glu422Asp) c.*849+1407G>T (n.*849+1407G>T) c.1254G>T (p.Glu418Asp) | dbSNP |
22 | g.43946203C>A | CA411847538 | PNPLA3 | c.1267C>A (p.Gln423Lys) c.*849+1408C>A (n.*849+1408C>A) c.1255C>A (p.Gln419Lys) | |
22 | g.43946203C= | CA2407489650 | PNPLA3 | c.1267C= (p.Gln423=) c.*849+1408C= (n.*849+1408C=) c.1255C= (p.Gln419=) | |
22 | g.43946203C>G | CA411847539 | PNPLA3 | c.1267C>G (p.Gln423Glu) c.*849+1408C>G (n.*849+1408C>G) c.1255C>G (p.Gln419Glu) | |
22 | g.43946203C>T | CA10278242 | PNPLA3 | c.1267C>T (p.Gln423Ter) c.*849+1408C>T (n.*849+1408C>T) c.1255C>T (p.Gln419Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.43946204A>C | CA411847544 | PNPLA3 | c.1268A>C (p.Gln423Pro) c.*849+1409A>C (n.*849+1409A>C) c.1256A>C (p.Gln419Pro) | |
22 | g.43946204A>G | CA411847542 | PNPLA3 | c.1268A>G (p.Gln423Arg) c.*849+1409A>G (n.*849+1409A>G) c.1256A>G (p.Gln419Arg) | gnomAD v4 |
22 | g.43946204A>T | CA411847543 | PNPLA3 | c.1268A>T (p.Gln423Leu) c.*849+1409A>T (n.*849+1409A>T) c.1256A>T (p.Gln419Leu) | |
22 | g.43946205G>A | CA515082927 | PNPLA3 | c.1269G>A (p.Gln423=) c.*849+1410G>A (n.*849+1410G>A) c.1257G>A (p.Gln419=) | |
22 | g.43946205G>C | CA411847545 | PNPLA3 | c.1269G>C (p.Gln423His) c.*849+1410G>C (n.*849+1410G>C) c.1257G>C (p.Gln419His) | |
22 | g.43946205G>T | CA411847546 | PNPLA3 | c.1269G>T (p.Gln423His) c.*849+1410G>T (n.*849+1410G>T) c.1257G>T (p.Gln419His) | |
22 | g.43946206G>A | CA411847548 | PNPLA3 | c.1270G>A (p.Asp424Asn) c.*849+1411G>A (n.*849+1411G>A) c.1258G>A (p.Asp420Asn) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.43946206G>C | CA411847550 | PNPLA3 | c.1270G>C (p.Asp424His) c.*849+1411G>C (n.*849+1411G>C) c.1258G>C (p.Asp420His) | |
22 | g.43946206G= | CA2407489651 | PNPLA3 | c.1270G= (p.Asp424=) c.*849+1411G= (n.*849+1411G=) c.1258G= (p.Asp420=) | |
22 | g.43946206G>T | CA411847552 | PNPLA3 | c.1270G>T (p.Asp424Tyr) c.*849+1411G>T (n.*849+1411G>T) c.1258G>T (p.Asp420Tyr) | |
22 | g.43946207A>C | CA411847553 | PNPLA3 | c.1271A>C (p.Asp424Ala) c.*849+1412A>C (n.*849+1412A>C) c.1259A>C (p.Asp420Ala) | |
22 | g.43946207A>G | CA411847554 | PNPLA3 | c.1271A>G (p.Asp424Gly) c.*849+1412A>G (n.*849+1412A>G) c.1259A>G (p.Asp420Gly) | |
22 | g.43946207A>T | CA411847555 | PNPLA3 | c.1271A>T (p.Asp424Val) c.*849+1412A>T (n.*849+1412A>T) c.1259A>T (p.Asp420Val) | gnomAD v4 |
22 | g.43946208C>A | CA411847557 | PNPLA3 | c.1272C>A (p.Asp424Glu) c.*849+1413C>A (n.*849+1413C>A) c.1260C>A (p.Asp420Glu) | |
22 | g.43946208C= | CA2407489652 | PNPLA3 | c.1272C= (p.Asp424=) c.*849+1413C= (n.*849+1413C=) c.1260C= (p.Asp420=) | |
22 | g.43946208C>G | CA411847558 | PNPLA3 | c.1272C>G (p.Asp424Glu) c.*849+1413C>G (n.*849+1413C>G) c.1260C>G (p.Asp420Glu) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.43946208C>T | CA515082946 | PNPLA3 | c.1272C>T (p.Asp424=) c.*849+1413C>T (n.*849+1413C>T) c.1260C>T (p.Asp420=) | |
22 | g.43946209T>A | CA411847559 | PNPLA3 | c.1273T>A (p.Trp425Arg) c.*849+1414T>A (n.*849+1414T>A) c.1261T>A (p.Trp421Arg) | |
22 | g.43946209T>C | CA411847560 | PNPLA3 | c.1273T>C (p.Trp425Arg) c.*849+1414T>C (n.*849+1414T>C) c.1261T>C (p.Trp421Arg) | |
22 | g.43946209T>G | CA411847562 | PNPLA3 | c.1273T>G (p.Trp425Gly) c.*849+1414T>G (n.*849+1414T>G) c.1261T>G (p.Trp421Gly) | |
22 | g.43946210G>A | CA411847564 | PNPLA3 | c.1274G>A (p.Trp425Ter) c.*849+1415G>A (n.*849+1415G>A) c.1262G>A (p.Trp421Ter) | |
22 | g.43946210G>C | CA411847567 | PNPLA3 | c.1274G>C (p.Trp425Ser) c.*849+1415G>C (n.*849+1415G>C) c.1262G>C (p.Trp421Ser) | |
22 | g.43946210G>T | CA411847566 | PNPLA3 | c.1274G>T (p.Trp425Leu) c.*849+1415G>T (n.*849+1415G>T) c.1262G>T (p.Trp421Leu) | |
22 | g.43946211G>A | CA411847569 | PNPLA3 | c.1275G>A (p.Trp425Ter) c.*849+1416G>A (n.*849+1416G>A) c.1263G>A (p.Trp421Ter) | |
22 | g.43946211G>C | CA411847571 | PNPLA3 | c.1275G>C (p.Trp425Cys) c.*849+1416G>C (n.*849+1416G>C) c.1263G>C (p.Trp421Cys) | |
22 | g.43946211G>T | CA411847573 | PNPLA3 | c.1275G>T (p.Trp425Cys) c.*849+1416G>T (n.*849+1416G>T) c.1263G>T (p.Trp421Cys) | |
22 | g.43946212C>A | CA411847575 | PNPLA3 | c.1276C>A (p.Pro426Thr) c.*849+1417C>A (n.*849+1417C>A) c.1264C>A (p.Pro422Thr) | |
22 | g.43946212C= | CA2407489653 | PNPLA3 | c.1276C= (p.Pro426=) c.*849+1417C= (n.*849+1417C=) c.1264C= (p.Pro422=) | |
22 | g.43946212C>G | CA411847577 | PNPLA3 | c.1276C>G (p.Pro426Ala) c.*849+1417C>G (n.*849+1417C>G) c.1264C>G (p.Pro422Ala) | |
22 | g.43946212C>T | CA324869411 | PNPLA3 | c.1276C>T (p.Pro426Ser) c.*849+1417C>T (n.*849+1417C>T) c.1264C>T (p.Pro422Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
22 | g.43946219_43946230del | CA2657154793 | PNPLA3 | c.1283_1294del (p.Trp428_Cys431del) c.*849+1424_*849+1435del (n.*849+1424_*849+1435del) c.1271_1282del (p.Trp424_Cys427del) | gnomAD v4 |
22 | g.43946213C>A | CA411847578 | PNPLA3 | c.1277C>A (p.Pro426His) c.*849+1418C>A (n.*849+1418C>A) c.1265C>A (p.Pro422His) | |
22 | g.43946213C>G | CA411847579 | PNPLA3 | c.1277C>G (p.Pro426Arg) c.*849+1418C>G (n.*849+1418C>G) c.1265C>G (p.Pro422Arg) | |
22 | g.43946213C>T | CA411847581 | PNPLA3 | c.1277C>T (p.Pro426Leu) c.*849+1418C>T (n.*849+1418C>T) c.1265C>T (p.Pro422Leu) | |
22 | g.43946214C>A | CA515082969 | PNPLA3 | c.1278C>A (p.Pro426=) c.*849+1419C>A (n.*849+1419C>A) c.1266C>A (p.Pro422=) | |
22 | g.43946214C>G | CA515082971 | PNPLA3 | c.1278C>G (p.Pro426=) c.*849+1419C>G (n.*849+1419C>G) c.1266C>G (p.Pro422=) | |
22 | g.43946214C>T | CA515082973 | PNPLA3 | c.1278C>T (p.Pro426=) c.*849+1419C>T (n.*849+1419C>T) c.1266C>T (p.Pro422=) | |
22 | g.43946215T>A | CA411847582 | PNPLA3 | c.1279T>A (p.Cys427Ser) c.*849+1420T>A (n.*849+1420T>A) c.1267T>A (p.Cys423Ser) | |
22 | g.43946215T>C | CA411847584 | PNPLA3 | c.1279T>C (p.Cys427Arg) c.*849+1420T>C (n.*849+1420T>C) c.1267T>C (p.Cys423Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946215T>G | CA411847586 | PNPLA3 | c.1279T>G (p.Cys427Gly) c.*849+1420T>G (n.*849+1420T>G) c.1267T>G (p.Cys423Gly) | |
22 | g.43946215T= | CA2407489654 | PNPLA3 | c.1279T= (p.Cys427=) c.*849+1420T= (n.*849+1420T=) c.1267T= (p.Cys423=) | |
22 | g.43946216G>A | CA10278243 | PNPLA3 | c.1280G>A (p.Cys427Tyr) c.*849+1421G>A (n.*849+1421G>A) c.1268G>A (p.Cys423Tyr) | dbSNP ExAC gnomAD v2 |
22 | g.43946216G>C | CA411847587 | PNPLA3 | c.1280G>C (p.Cys427Ser) c.*849+1421G>C (n.*849+1421G>C) c.1268G>C (p.Cys423Ser) | |
22 | g.43946216G= | CA2407489655 | PNPLA3 | c.1280G= (p.Cys427=) c.*849+1421G= (n.*849+1421G=) c.1268G= (p.Cys423=) | |
22 | g.43946216G>T | CA411847589 | PNPLA3 | c.1280G>T (p.Cys427Phe) c.*849+1421G>T (n.*849+1421G>T) c.1268G>T (p.Cys423Phe) | |
22 | g.43946217C>A | CA411847592 | PNPLA3 | c.1281C>A (p.Cys427Ter) c.*849+1422C>A (n.*849+1422C>A) c.1269C>A (p.Cys423Ter) | |
22 | g.43946217C>G | CA411847593 | PNPLA3 | c.1281C>G (p.Cys427Trp) c.*849+1422C>G (n.*849+1422C>G) c.1269C>G (p.Cys423Trp) | |
22 | g.43946217C>T | CA515082994 | PNPLA3 | c.1281C>T (p.Cys427=) c.*849+1422C>T (n.*849+1422C>T) c.1269C>T (p.Cys423=) | |
22 | g.43946218T>A | CA411847595 | PNPLA3 | c.1282T>A (p.Trp428Arg) c.*849+1423T>A (n.*849+1423T>A) c.1270T>A (p.Trp424Arg) | |
22 | g.43946218T>C | CA411847596 | PNPLA3 | c.1282T>C (p.Trp428Arg) c.*849+1423T>C (n.*849+1423T>C) c.1270T>C (p.Trp424Arg) | gnomAD v4 |
22 | g.43946218T>G | CA411847598 | PNPLA3 | c.1282T>G (p.Trp428Gly) c.*849+1423T>G (n.*849+1423T>G) c.1270T>G (p.Trp424Gly) | |
22 | g.43946219G>A | CA411847600 | PNPLA3 | c.1283G>A (p.Trp428Ter) c.*849+1424G>A (n.*849+1424G>A) c.1271G>A (p.Trp424Ter) | |
22 | g.43946219G>C | CA411847602 | PNPLA3 | c.1283G>C (p.Trp428Ser) c.*849+1424G>C (n.*849+1424G>C) c.1271G>C (p.Trp424Ser) | |
22 | g.43946219G>T | CA411847603 | PNPLA3 | c.1283G>T (p.Trp428Leu) c.*849+1424G>T (n.*849+1424G>T) c.1271G>T (p.Trp424Leu) | |
22 | g.43946220del | CA2546548038 | PNPLA3 | c.1284del (p.Trp428Ter) c.*849+1425del (n.*849+1425del) c.1272del (p.Trp424Ter) | |
22 | g.43946220G>A | CA10278244 | PNPLA3 | c.1284G>A (p.Trp428Ter) c.*849+1425G>A (n.*849+1425G>A) c.1272G>A (p.Trp424Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.43946220G>C | CA411847604 | PNPLA3 | c.1284G>C (p.Trp428Cys) c.*849+1425G>C (n.*849+1425G>C) c.1272G>C (p.Trp424Cys) | |
22 | g.43946220G= | CA2407489656 | PNPLA3 | c.1284G= (p.Trp428=) c.*849+1425G= (n.*849+1425G=) c.1272G= (p.Trp424=) | |
22 | g.43946220G>T | CA411847605 | PNPLA3 | c.1284G>T (p.Trp428Cys) c.*849+1425G>T (n.*849+1425G>T) c.1272G>T (p.Trp424Cys) | dbSNP gnomAD v4 |
22 | g.43946221A= | CA2407489657 | PNPLA3 | c.1285A= (p.Thr429=) c.*849+1426A= (n.*849+1426A=) c.1273A= (p.Thr425=) | |
22 | g.43946221A>C | CA411847608 | PNPLA3 | c.1285A>C (p.Thr429Pro) c.*849+1426A>C (n.*849+1426A>C) c.1273A>C (p.Thr425Pro) | |
22 | g.43946221A>G | CA411847607 | PNPLA3 | c.1285A>G (p.Thr429Ala) c.*849+1426A>G (n.*849+1426A>G) c.1273A>G (p.Thr425Ala) | dbSNP |
22 | g.43946221A>T | CA411847606 | PNPLA3 | c.1285A>T (p.Thr429Ser) c.*849+1426A>T (n.*849+1426A>T) c.1273A>T (p.Thr425Ser) | |
22 | g.43946222C>A | CA411847610 | PNPLA3 | c.1286C>A (p.Thr429Asn) c.*849+1427C>A (n.*849+1427C>A) c.1274C>A (p.Thr425Asn) | |
22 | g.43946222C>G | CA411847613 | PNPLA3 | c.1286C>G (p.Thr429Ser) c.*849+1427C>G (n.*849+1427C>G) c.1274C>G (p.Thr425Ser) | |
22 | g.43946222C>T | CA411847611 | PNPLA3 | c.1286C>T (p.Thr429Ile) c.*849+1427C>T (n.*849+1427C>T) c.1274C>T (p.Thr425Ile) | |
22 | g.43946223T>A | CA515083021 | PNPLA3 | c.1287T>A (p.Thr429=) c.*849+1428T>A (n.*849+1428T>A) c.1275T>A (p.Thr425=) | dbSNP |
22 | g.43946223T>C | CA515083022 | PNPLA3 | c.1287T>C (p.Thr429=) c.*849+1428T>C (n.*849+1428T>C) c.1275T>C (p.Thr425=) | dbSNP |
22 | g.43946223T>G | CA515083023 | PNPLA3 | c.1287T>G (p.Thr429=) c.*849+1428T>G (n.*849+1428T>G) c.1275T>G (p.Thr425=) | |
22 | g.43946223T= | CA2407489658 | PNPLA3 | c.1287T= (p.Thr429=) c.*849+1428T= (n.*849+1428T=) c.1275T= (p.Thr425=) | |
22 | g.43946224C>A | CA411847614 | PNPLA3 | c.1288C>A (p.Pro430Thr) c.*849+1429C>A (n.*849+1429C>A) c.1276C>A (p.Pro426Thr) | |
22 | g.43946224C= | CA2407489659 | PNPLA3 | c.1288C= (p.Pro430=) c.*849+1429C= (n.*849+1429C=) c.1276C= (p.Pro426=) | |
22 | g.43946224C>G | CA411847616 | PNPLA3 | c.1288C>G (p.Pro430Ala) c.*849+1429C>G (n.*849+1429C>G) c.1276C>G (p.Pro426Ala) | |
22 | g.43946224C>T | CA10278245 | PNPLA3 | c.1288C>T (p.Pro430Ser) c.*849+1429C>T (n.*849+1429C>T) c.1276C>T (p.Pro426Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
22 | g.43946225C>A | CA411847618 | PNPLA3 | c.1289C>A (p.Pro430His) c.*849+1430C>A (n.*849+1430C>A) c.1277C>A (p.Pro426His) | |
22 | g.43946225C= | CA2407489660 | PNPLA3 | c.1289C= (p.Pro430=) c.*849+1430C= (n.*849+1430C=) c.1277C= (p.Pro426=) | |
22 | g.43946225C>G | CA411847619 | PNPLA3 | c.1289C>G (p.Pro430Arg) c.*849+1430C>G (n.*849+1430C>G) c.1277C>G (p.Pro426Arg) | |
22 | g.43946225C>T | CA324869412 | PNPLA3 | c.1289C>T (p.Pro430Leu) c.*849+1430C>T (n.*849+1430C>T) c.1277C>T (p.Pro426Leu) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.43946226C>A | CA515083037 | PNPLA3 | c.1290C>A (p.Pro430=) c.*849+1431C>A (n.*849+1431C>A) c.1278C>A (p.Pro426=) | |
22 | g.43946226C= | CA2407489661 | PNPLA3 | c.1290C= (p.Pro430=) c.*849+1431C= (n.*849+1431C=) c.1278C= (p.Pro426=) | |
22 | g.43946226C>G | CA515083039 | PNPLA3 | c.1290C>G (p.Pro430=) c.*849+1431C>G (n.*849+1431C>G) c.1278C>G (p.Pro426=) | dbSNP gnomAD v4 |
22 | g.43946226C>T | CA515083041 | PNPLA3 | c.1290C>T (p.Pro430=) c.*849+1431C>T (n.*849+1431C>T) c.1278C>T (p.Pro426=) | |
22 | g.43946227T>A | CA411847621 | PNPLA3 | c.1291T>A (p.Cys431Ser) c.*849+1432T>A (n.*849+1432T>A) c.1279T>A (p.Cys427Ser) | |
22 | g.43946227T>C | CA411847623 | PNPLA3 | c.1291T>C (p.Cys431Arg) c.*849+1432T>C (n.*849+1432T>C) c.1279T>C (p.Cys427Arg) | |
22 | g.43946227T>G | CA411847624 | PNPLA3 | c.1291T>G (p.Cys431Gly) c.*849+1432T>G (n.*849+1432T>G) c.1279T>G (p.Cys427Gly) | |
22 | g.43946228G>A | CA324869413 | PNPLA3 | c.1292G>A (p.Cys431Tyr) c.*849+1433G>A (n.*849+1433G>A) c.1280G>A (p.Cys427Tyr) | dbSNP |
22 | g.43946228G>C | CA411847627 | PNPLA3 | c.1292G>C (p.Cys431Ser) c.*849+1433G>C (n.*849+1433G>C) c.1280G>C (p.Cys427Ser) | |
22 | g.43946228G= | CA2407489662 | PNPLA3 | c.1292G= (p.Cys431=) c.*849+1433G= (n.*849+1433G=) c.1280G= (p.Cys427=) | |
22 | g.43946228G>T | CA411847629 | PNPLA3 | c.1292G>T (p.Cys431Phe) c.*849+1433G>T (n.*849+1433G>T) c.1280G>T (p.Cys427Phe) | |
22 | g.43946229C>A | CA411847630 | PNPLA3 | c.1293C>A (p.Cys431Ter) c.*849+1434C>A (n.*849+1434C>A) c.1281C>A (p.Cys427Ter) | |
22 | g.43946229C= | CA2407489663 | PNPLA3 | c.1293C= (p.Cys431=) c.*849+1434C= (n.*849+1434C=) c.1281C= (p.Cys427=) | |
22 | g.43946229C>G | CA411847631 | PNPLA3 | c.1293C>G (p.Cys431Trp) c.*849+1434C>G (n.*849+1434C>G) c.1281C>G (p.Cys427Trp) | |
22 | g.43946229C>T | CA515083053 | PNPLA3 | c.1293C>T (p.Cys431=) c.*849+1434C>T (n.*849+1434C>T) c.1281C>T (p.Cys427=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.43946230T>A | CA411847634 | PNPLA3 | c.1294T>A (p.Ser432Thr) c.*849+1435T>A (n.*849+1435T>A) c.1282T>A (p.Ser428Thr) | |
22 | g.43946230T>C | CA411847635 | PNPLA3 | c.1294T>C (p.Ser432Pro) c.*849+1435T>C (n.*849+1435T>C) c.1282T>C (p.Ser428Pro) | |
22 | g.43946230T>G | CA411847637 | PNPLA3 | c.1294T>G (p.Ser432Ala) c.*849+1435T>G (n.*849+1435T>G) c.1282T>G (p.Ser428Ala) | |
22 | g.43946231C>A | CA411847639 | PNPLA3 | c.1295C>A (p.Ser432Tyr) c.*849+1436C>A (n.*849+1436C>A) c.1283C>A (p.Ser428Tyr) | |
22 | g.43946231C>G | CA411847641 | PNPLA3 | c.1295C>G (p.Ser432Cys) c.*849+1436C>G (n.*849+1436C>G) c.1283C>G (p.Ser428Cys) | |
22 | g.43946231C>T | CA411847642 | PNPLA3 | c.1295C>T (p.Ser432Phe) c.*849+1436C>T (n.*849+1436C>T) c.1283C>T (p.Ser428Phe) | |
22 | g.43946232C>A | CA515083065 | PNPLA3 | c.1296C>A (p.Ser432=) c.*849+1437C>A (n.*849+1437C>A) c.1284C>A (p.Ser428=) | COSMIC |
22 | g.43946232C= | CA2407489664 | PNPLA3 | c.1296C= (p.Ser432=) c.*849+1437C= (n.*849+1437C=) c.1284C= (p.Ser428=) | |
22 | g.43946232C>G | CA515083067 | PNPLA3 | c.1296C>G (p.Ser432=) c.*849+1437C>G (n.*849+1437C>G) c.1284C>G (p.Ser428=) | gnomAD v4 |
22 | g.43946232C>T | CA515083069 | PNPLA3 | c.1296C>T (p.Ser432=) c.*849+1437C>T (n.*849+1437C>T) c.1284C>T (p.Ser428=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
22 | g.43946233C>A | CA411847645 | PNPLA3 | c.1297C>A (p.Pro433Thr) c.*849+1438C>A (n.*849+1438C>A) c.1285C>A (p.Pro429Thr) | |
22 | g.43946233C>G | CA411847647 | PNPLA3 | c.1297C>G (p.Pro433Ala) c.*849+1438C>G (n.*849+1438C>G) c.1285C>G (p.Pro429Ala) | |
22 | g.43946233C>T | CA411847648 | PNPLA3 | c.1297C>T (p.Pro433Ser) c.*849+1438C>T (n.*849+1438C>T) c.1285C>T (p.Pro429Ser) | gnomAD v4 |
22 | g.43946235_43946246del | CA515083073 | PNPLA3 | c.1299_1310del (p.Lys434_Pro437del) c.*849+1440_*849+1451del (n.*849+1440_*849+1451del) c.1287_1298del (p.Lys430_Pro433del) | |
22 | g.43946234C>A | CA411847650 | PNPLA3 | c.1298C>A (p.Pro433His) c.*849+1439C>A (n.*849+1439C>A) c.1286C>A (p.Pro429His) | |
22 | g.43946234C= | CA2407489665 | PNPLA3 | c.1298C= (p.Pro433=) c.*849+1439C= (n.*849+1439C=) c.1286C= (p.Pro429=) | |
22 | g.43946234C>G | CA411847651 | PNPLA3 | c.1298C>G (p.Pro433Arg) c.*849+1439C>G (n.*849+1439C>G) c.1286C>G (p.Pro429Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946234C>T | CA411847653 | PNPLA3 | c.1298C>T (p.Pro433Leu) c.*849+1439C>T (n.*849+1439C>T) c.1286C>T (p.Pro429Leu) | |
22 | g.43946235C>A | CA515083081 | PNPLA3 | c.1299C>A (p.Pro433=) c.*849+1440C>A (n.*849+1440C>A) c.1287C>A (p.Pro429=) | |
22 | g.43946235C= | CA2407489666 | PNPLA3 | c.1299C= (p.Pro433=) c.*849+1440C= (n.*849+1440C=) c.1287C= (p.Pro429=) | |
22 | g.43946235C>G | CA515083083 | PNPLA3 | c.1299C>G (p.Pro433=) c.*849+1440C>G (n.*849+1440C>G) c.1287C>G (p.Pro429=) | |
22 | g.43946235C>T | CA10278246 | PNPLA3 | c.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 |
22 | g.43946236A= | CA2407489667 | PNPLA3 | c.1300A= (p.Lys434=) c.*849+1441A= (n.*849+1441A=) c.1288A= (p.Lys430=) | |
22 | g.43946236A>C | CA411847655 | PNPLA3 | c.1300A>C (p.Lys434Gln) c.*849+1441A>C (n.*849+1441A>C) c.1288A>C (p.Lys430Gln) | gnomAD v4 |
22 | g.43946236A>G | CA10278247 | PNPLA3 | c.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 |
22 | g.43946236A>T | CA411847657 | PNPLA3 | c.1300A>T (p.Lys434Ter) c.*849+1441A>T (n.*849+1441A>T) c.1288A>T (p.Lys430Ter) | |
22 | g.43946237A>C | CA411847659 | PNPLA3 | c.1301A>C (p.Lys434Thr) c.*849+1442A>C (n.*849+1442A>C) c.1289A>C (p.Lys430Thr) | |
22 | g.43946237A>G | CA411847663 | PNPLA3 | c.1301A>G (p.Lys434Arg) c.*849+1442A>G (n.*849+1442A>G) c.1289A>G (p.Lys430Arg) | |
22 | g.43946237A>T | CA411847664 | PNPLA3 | c.1301A>T (p.Lys434Met) c.*849+1442A>T (n.*849+1442A>T) c.1289A>T (p.Lys430Met) | |
22 | g.43946238G>A | CA515083099 | PNPLA3 | c.1302G>A (p.Lys434=) c.*849+1443G>A (n.*849+1443G>A) c.1290G>A (p.Lys430=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.43946238G>C | CA10278248 | PNPLA3 | c.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 |
22 | g.43946238G= | CA2407489668 | PNPLA3 | c.1302G= (p.Lys434=) c.*849+1443G= (n.*849+1443G=) c.1290G= (p.Lys430=) | |
22 | g.43946238G>T | CA411847666 | PNPLA3 | c.1302G>T (p.Lys434Asn) c.*849+1443G>T (n.*849+1443G>T) c.1290G>T (p.Lys430Asn) | |
22 | g.43946239G>A | CA10278249 | PNPLA3 | c.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 |
22 | g.43946239G>C | CA411847671 | PNPLA3 | c.1303G>C (p.Gly435Arg) c.*849+1444G>C (n.*849+1444G>C) c.1291G>C (p.Gly431Arg) | |
22 | g.43946239G= | CA2407489669 | PNPLA3 | c.1303G= (p.Gly435=) c.*849+1444G= (n.*849+1444G=) c.1291G= (p.Gly431=) | |
22 | g.43946239G>T | CA411847670 | PNPLA3 | c.1303G>T (p.Gly435Cys) c.*849+1444G>T (n.*849+1444G>T) c.1291G>T (p.Gly431Cys) | |
22 | g.43946240G>A | CA411847673 | PNPLA3 | c.1304G>A (p.Gly435Asp) c.*849+1445G>A (n.*849+1445G>A) c.1292G>A (p.Gly431Asp) | |
22 | g.43946240G>C | CA411847674 | PNPLA3 | c.1304G>C (p.Gly435Ala) c.*849+1445G>C (n.*849+1445G>C) c.1292G>C (p.Gly431Ala) | |
22 | g.43946240G>T | CA411847676 | PNPLA3 | c.1304G>T (p.Gly435Val) c.*849+1445G>T (n.*849+1445G>T) c.1292G>T (p.Gly431Val) | |
22 | g.43946241C>A | CA515083114 | PNPLA3 | c.1305C>A (p.Gly435=) c.*849+1446C>A (n.*849+1446C>A) c.1293C>A (p.Gly431=) | |
22 | g.43946241C>G | CA515083116 | PNPLA3 | c.1305C>G (p.Gly435=) c.*849+1446C>G (n.*849+1446C>G) c.1293C>G (p.Gly431=) | |
22 | g.43946241C>T | CA515083118 | PNPLA3 | c.1305C>T (p.Gly435=) c.*849+1446C>T (n.*849+1446C>T) c.1293C>T (p.Gly431=) | |
22 | g.43946242T>A | CA411847677 | PNPLA3 | c.1306T>A (p.Cys436Ser) c.*849+1447T>A (n.*849+1447T>A) c.1294T>A (p.Cys432Ser) | |
22 | g.43946242T>C | CA411847678 | PNPLA3 | c.1306T>C (p.Cys436Arg) c.*849+1447T>C (n.*849+1447T>C) c.1294T>C (p.Cys432Arg) | |
22 | g.43946242T>G | CA411847679 | PNPLA3 | c.1306T>G (p.Cys436Gly) c.*849+1447T>G (n.*849+1447T>G) c.1294T>G (p.Cys432Gly) | |
22 | g.43946243G>A | CA411847680 | PNPLA3 | c.1307G>A (p.Cys436Tyr) c.*849+1448G>A (n.*849+1448G>A) c.1295G>A (p.Cys432Tyr) | |
22 | g.43946243G>C | CA324869414 | PNPLA3 | c.1307G>C (p.Cys436Ser) c.*849+1448G>C (n.*849+1448G>C) c.1295G>C (p.Cys432Ser) | dbSNP |
22 | g.43946243G= | CA2407489670 | PNPLA3 | c.1307G= (p.Cys436=) c.*849+1448G= (n.*849+1448G=) c.1295G= (p.Cys432=) | |
22 | g.43946243G>T | CA411847682 | PNPLA3 | c.1307G>T (p.Cys436Phe) c.*849+1448G>T (n.*849+1448G>T) c.1295G>T (p.Cys432Phe) | |
22 | g.43946244T>A | CA411847685 | PNPLA3 | c.1308T>A (p.Cys436Ter) c.*849+1449T>A (n.*849+1449T>A) c.1296T>A (p.Cys432Ter) | |
22 | g.43946244T>C | CA515083132 | PNPLA3 | c.1308T>C (p.Cys436=) c.*849+1449T>C (n.*849+1449T>C) c.1296T>C (p.Cys432=) | |
22 | g.43946244T>G | CA411847686 | PNPLA3 | c.1308T>G (p.Cys436Trp) c.*849+1449T>G (n.*849+1449T>G) c.1296T>G (p.Cys432Trp) | |
22 | g.43946245C>A | CA411847688 | PNPLA3 | c.1309C>A (p.Pro437Thr) c.*849+1450C>A (n.*849+1450C>A) c.1297C>A (p.Pro433Thr) | |
22 | g.43946245C>G | CA411847689 | PNPLA3 | c.1309C>G (p.Pro437Ala) c.*849+1450C>G (n.*849+1450C>G) c.1297C>G (p.Pro433Ala) | |
22 | g.43946245C>T | CA411847691 | PNPLA3 | c.1309C>T (p.Pro437Ser) c.*849+1450C>T (n.*849+1450C>T) c.1297C>T (p.Pro433Ser) | |
22 | g.43946246C>A | CA411847694 | PNPLA3 | c.1310C>A (p.Pro437Gln) c.*849+1451C>A (n.*849+1451C>A) c.1298C>A (p.Pro433Gln) | |
22 | g.43946246C>G | CA411847695 | PNPLA3 | c.1310C>G (p.Pro437Arg) c.*849+1451C>G (n.*849+1451C>G) c.1298C>G (p.Pro433Arg) | |
22 | g.43946246C>T | CA411847697 | PNPLA3 | c.1310C>T (p.Pro437Leu) c.*849+1451C>T (n.*849+1451C>T) c.1298C>T (p.Pro433Leu) | gnomAD v4 |
22 | g.43946247A>C | CA515083144 | PNPLA3 | c.1311A>C (p.Pro437=) c.*849+1452A>C (n.*849+1452A>C) c.1299A>C (p.Pro433=) | |
22 | g.43946247A>G | CA515083145 | PNPLA3 | c.1311A>G (p.Pro437=) c.*849+1452A>G (n.*849+1452A>G) c.1299A>G (p.Pro433=) | gnomAD v4 |
22 | g.43946247A>T | CA515083148 | PNPLA3 | c.1311A>T (p.Pro437=) c.*849+1452A>T (n.*849+1452A>T) c.1299A>T (p.Pro433=) | |
22 | g.43946254_43946265del | CA2577772127 | PNPLA3 | c.1318_1329del (p.Thr440_Glu443del) c.*849+1459_*849+1470del (n.*849+1459_*849+1470del) c.1306_1317del (p.Thr436_Glu439del) | gnomAD v4 |
22 | g.43946248G>A | CA411847699 | PNPLA3 | c.1312G>A (p.Ala438Thr) c.*849+1453G>A (n.*849+1453G>A) c.1300G>A (p.Ala434Thr) | |
22 | g.43946248G>C | CA411847700 | PNPLA3 | c.1312G>C (p.Ala438Pro) c.*849+1453G>C (n.*849+1453G>C) c.1300G>C (p.Ala434Pro) | |
22 | g.43946248G= | CA2407489671 | PNPLA3 | c.1312G= (p.Ala438=) c.*849+1453G= (n.*849+1453G=) c.1300G= (p.Ala434=) | |
22 | g.43946248G>T | CA10278250 | PNPLA3 | c.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 |
22 | g.43946249C>A | CA411847704 | PNPLA3 | c.1313C>A (p.Ala438Glu) c.*849+1454C>A (n.*849+1454C>A) c.1301C>A (p.Ala434Glu) | |
22 | g.43946249C>G | CA411847706 | PNPLA3 | c.1313C>G (p.Ala438Gly) c.*849+1454C>G (n.*849+1454C>G) c.1301C>G (p.Ala434Gly) | |
22 | g.43946249C>T | CA411847703 | PNPLA3 | c.1313C>T (p.Ala438Val) c.*849+1454C>T (n.*849+1454C>T) c.1301C>T (p.Ala434Val) | gnomAD v4 |
22 | g.43946250A>C | CA515083167 | PNPLA3 | c.1314A>C (p.Ala438=) c.*849+1455A>C (n.*849+1455A>C) c.1302A>C (p.Ala434=) | |
22 | g.43946250A>G | CA515083168 | PNPLA3 | c.1314A>G (p.Ala438=) c.*849+1455A>G (n.*849+1455A>G) c.1302A>G (p.Ala434=) | |
22 | g.43946250A>T | CA515083171 | PNPLA3 | c.1314A>T (p.Ala438=) c.*849+1455A>T (n.*849+1455A>T) c.1302A>T (p.Ala434=) | |
22 | g.43946251G>A | CA10278251 | PNPLA3 | c.1315G>A (p.Glu439Lys) c.*849+1456G>A (n.*849+1456G>A) c.1303G>A (p.Glu435Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.43946251G>C | CA411847710 | PNPLA3 | c.1315G>C (p.Glu439Gln) c.*849+1456G>C (n.*849+1456G>C) c.1303G>C (p.Glu435Gln) | |
22 | g.43946251G= | CA2407489672 | PNPLA3 | c.1315G= (p.Glu439=) c.*849+1456G= (n.*849+1456G=) c.1303G= (p.Glu435=) | |
22 | g.43946251G>T | CA411847709 | PNPLA3 | c.1315G>T (p.Glu439Ter) c.*849+1456G>T (n.*849+1456G>T) c.1303G>T (p.Glu435Ter) | |
22 | g.43946252A>C | CA411847712 | PNPLA3 | c.1316A>C (p.Glu439Ala) c.*849+1457A>C (n.*849+1457A>C) c.1304A>C (p.Glu435Ala) | |
22 | g.43946252A>G | CA411847715 | PNPLA3 | c.1316A>G (p.Glu439Gly) c.*849+1457A>G (n.*849+1457A>G) c.1304A>G (p.Glu435Gly) | |
22 | g.43946252A>T | CA411847713 | PNPLA3 | c.1316A>T (p.Glu439Val) c.*849+1457A>T (n.*849+1457A>T) c.1304A>T (p.Glu435Val) | |
22 | g.43946253G>A | CA515083187 | PNPLA3 | c.1317G>A (p.Glu439=) c.*849+1458G>A (n.*849+1458G>A) c.1305G>A (p.Glu435=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.43946253G>C | CA411847716 | PNPLA3 | c.1317G>C (p.Glu439Asp) c.*849+1458G>C (n.*849+1458G>C) c.1305G>C (p.Glu435Asp) | |
22 | g.43946253G= | CA2407489673 | PNPLA3 | c.1317G= (p.Glu439=) c.*849+1458G= (n.*849+1458G=) c.1305G= (p.Glu435=) | |
22 | g.43946253G>T | CA411847717 | PNPLA3 | c.1317G>T (p.Glu439Asp) c.*849+1458G>T (n.*849+1458G>T) c.1305G>T (p.Glu435Asp) | |
22 | g.43946254A>C | CA411847719 | PNPLA3 | c.1318A>C (p.Thr440Pro) c.*849+1459A>C (n.*849+1459A>C) c.1306A>C (p.Thr436Pro) | |
22 | g.43946254A>G | CA411847723 | PNPLA3 | c.1318A>G (p.Thr440Ala) c.*849+1459A>G (n.*849+1459A>G) c.1306A>G (p.Thr436Ala) | |
22 | g.43946254A>T | CA411847724 | PNPLA3 | c.1318A>T (p.Thr440Ser) c.*849+1459A>T (n.*849+1459A>T) c.1306A>T (p.Thr436Ser) | |
22 | g.43946255C>A | CA411847726 | PNPLA3 | c.1319C>A (p.Thr440Asn) c.*849+1460C>A (n.*849+1460C>A) c.1307C>A (p.Thr436Asn) | dbSNP |
22 | g.43946255C= | CA2407489674 | PNPLA3 | c.1319C= (p.Thr440=) c.*849+1460C= (n.*849+1460C=) c.1307C= (p.Thr436=) | |
22 | g.43946255C>G | CA411847727 | PNPLA3 | c.1319C>G (p.Thr440Ser) c.*849+1460C>G (n.*849+1460C>G) c.1307C>G (p.Thr436Ser) | |
22 | g.43946255C>T | CA411847729 | PNPLA3 | c.1319C>T (p.Thr440Ile) c.*849+1460C>T (n.*849+1460C>T) c.1307C>T (p.Thr436Ile) | gnomAD v4 |
22 | g.43946256C>A | CA515083208 | PNPLA3 | c.1320C>A (p.Thr440=) c.*849+1461C>A (n.*849+1461C>A) c.1308C>A (p.Thr436=) | |
22 | g.43946256C>G | CA515083211 | PNPLA3 | c.1320C>G (p.Thr440=) c.*849+1461C>G (n.*849+1461C>G) c.1308C>G (p.Thr436=) | |
22 | g.43946256C>T | CA515083213 | PNPLA3 | c.1320C>T (p.Thr440=) c.*849+1461C>T (n.*849+1461C>T) c.1308C>T (p.Thr436=) | |
22 | g.43946256_43946257delinsCA | CA2407489675 | PNPLA3 | c.1320_1321delinsCA (p.Thr440=) c.*849+1461_*849+1462delinsCA (n.*849+1461_*849+1462delinsCA) c.1308_1309delinsCA (p.Thr436=) | |
22 | g.43946257A>C | CA411847731 | PNPLA3 | c.1321A>C (p.Lys441Gln) c.*849+1462A>C (n.*849+1462A>C) c.1309A>C (p.Lys437Gln) | |
22 | g.43946257A>G | CA411847733 | PNPLA3 | c.1321A>G (p.Lys441Glu) c.*849+1462A>G (n.*849+1462A>G) c.1309A>G (p.Lys437Glu) | gnomAD v4 |
22 | g.43946257A>T | CA411847734 | PNPLA3 | c.1321A>T (p.Lys441Ter) c.*849+1462A>T (n.*849+1462A>T) c.1309A>T (p.Lys437Ter) | |
22 | g.43946259del | CA639830747 | PNPLA3 | c.1323del (p.Ala442GlnfsTer13) c.*849+1464del (n.*849+1464del) c.1311del (p.Ala438GlnfsTer13) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946258A>C | CA411847737 | PNPLA3 | c.1322A>C (p.Lys441Thr) c.*849+1463A>C (n.*849+1463A>C) c.1310A>C (p.Lys437Thr) | |
22 | g.43946258A>G | CA411847739 | PNPLA3 | c.1322A>G (p.Lys441Arg) c.*849+1463A>G (n.*849+1463A>G) c.1310A>G (p.Lys437Arg) | |
22 | g.43946258A>T | CA411847741 | PNPLA3 | c.1322A>T (p.Lys441Ile) c.*849+1463A>T (n.*849+1463A>T) c.1310A>T (p.Lys437Ile) | |
22 | g.43946259A>C | CA411847746 | PNPLA3 | c.1323A>C (p.Lys441Asn) c.*849+1464A>C (n.*849+1464A>C) c.1311A>C (p.Lys437Asn) | |
22 | g.43946259A>G | CA515083233 | PNPLA3 | c.1323A>G (p.Lys441=) c.*849+1464A>G (n.*849+1464A>G) c.1311A>G (p.Lys437=) | |
22 | g.43946259A>T | CA411847743 | PNPLA3 | c.1323A>T (p.Lys441Asn) c.*849+1464A>T (n.*849+1464A>T) c.1311A>T (p.Lys437Asn) | |
22 | g.43946260G>A | CA411847747 | PNPLA3 | c.1324G>A (p.Ala442Thr) c.*849+1465G>A (n.*849+1465G>A) c.1312G>A (p.Ala438Thr) | gnomAD v4 |
22 | g.43946260G>C | CA411847749 | PNPLA3 | c.1324G>C (p.Ala442Pro) c.*849+1465G>C (n.*849+1465G>C) c.1312G>C (p.Ala438Pro) | |
22 | g.43946260G>T | CA411847752 | PNPLA3 | c.1324G>T (p.Ala442Ser) c.*849+1465G>T (n.*849+1465G>T) c.1312G>T (p.Ala438Ser) | |
22 | g.43946262_43946275del | CA2657154794 | PNPLA3 | c.1326_1339del (p.Glu443ValfsTer14) c.*849+1467_*849+1480del (n.*849+1467_*849+1480del) c.1314_1327del (p.Glu439ValfsTer14) | gnomAD v4 |
22 | g.43946261C>A | CA411847755 | PNPLA3 | c.1325C>A (p.Ala442Glu) c.*849+1466C>A (n.*849+1466C>A) c.1313C>A (p.Ala438Glu) | |
22 | g.43946261C>G | CA411847756 | PNPLA3 | c.1325C>G (p.Ala442Gly) c.*849+1466C>G (n.*849+1466C>G) c.1313C>G (p.Ala438Gly) | |
22 | g.43946261C>T | CA411847757 | PNPLA3 | c.1325C>T (p.Ala442Val) c.*849+1466C>T (n.*849+1466C>T) c.1313C>T (p.Ala438Val) | |
22 | g.43946262A= | CA2407489676 | PNPLA3 | c.1326A= (p.Ala442=) c.*849+1467A= (n.*849+1467A=) c.1314A= (p.Ala438=) | |
22 | g.43946262A>C | CA515083244 | PNPLA3 | c.1326A>C (p.Ala442=) c.*849+1467A>C (n.*849+1467A>C) c.1314A>C (p.Ala438=) | dbSNP |
22 | g.43946262A>G | CA515083246 | PNPLA3 | c.1326A>G (p.Ala442=) c.*849+1467A>G (n.*849+1467A>G) c.1314A>G (p.Ala438=) | |
22 | g.43946262A>T | CA515083248 | PNPLA3 | c.1326A>T (p.Ala442=) c.*849+1467A>T (n.*849+1467A>T) c.1314A>T (p.Ala438=) | |
22 | g.43946263G>A | CA411847759 | PNPLA3 | c.1327G>A (p.Glu443Lys) c.*849+1468G>A (n.*849+1468G>A) c.1315G>A (p.Glu439Lys) | |
22 | g.43946263G>C | CA411847762 | PNPLA3 | c.1327G>C (p.Glu443Gln) c.*849+1468G>C (n.*849+1468G>C) c.1315G>C (p.Glu439Gln) | |
22 | g.43946263G>T | CA411847764 | PNPLA3 | c.1327G>T (p.Glu443Ter) c.*849+1468G>T (n.*849+1468G>T) c.1315G>T (p.Glu439Ter) | |
22 | g.43946264A>C | CA411847767 | PNPLA3 | c.1328A>C (p.Glu443Ala) c.*849+1469A>C (n.*849+1469A>C) c.1316A>C (p.Glu439Ala) | |
22 | g.43946264A>G | CA411847769 | PNPLA3 | c.1328A>G (p.Glu443Gly) c.*849+1469A>G (n.*849+1469A>G) c.1316A>G (p.Glu439Gly) | |
22 | g.43946264A>T | CA411847770 | PNPLA3 | c.1328A>T (p.Glu443Val) c.*849+1469A>T (n.*849+1469A>T) c.1316A>T (p.Glu439Val) | COSMIC |
22 | g.43946265G>A | CA515083261 | PNPLA3 | c.1329G>A (p.Glu443=) c.*849+1470G>A (n.*849+1470G>A) c.1317G>A (p.Glu439=) | gnomAD v4 |
22 | g.43946265G>C | CA411847772 | PNPLA3 | c.1329G>C (p.Glu443Asp) c.*849+1470G>C (n.*849+1470G>C) c.1317G>C (p.Glu439Asp) | |
22 | g.43946265G>T | CA411847777 | PNPLA3 | c.1329G>T (p.Glu443Asp) c.*849+1470G>T (n.*849+1470G>T) c.1317G>T (p.Glu439Asp) | |
22 | g.43946266G>A | CA324869415 | PNPLA3 | c.1330G>A (p.Ala444Thr) c.*849+1471G>A (n.*849+1471G>A) c.1318G>A (p.Ala440Thr) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.43946266G>C | CA411847780 | PNPLA3 | c.1330G>C (p.Ala444Pro) c.*849+1471G>C (n.*849+1471G>C) c.1318G>C (p.Ala440Pro) | |
22 | g.43946266G= | CA2407489677 | PNPLA3 | c.1330G= (p.Ala444=) c.*849+1471G= (n.*849+1471G=) c.1318G= (p.Ala440=) | |
22 | g.43946266G>T | CA411847781 | PNPLA3 | c.1330G>T (p.Ala444Ser) c.*849+1471G>T (n.*849+1471G>T) c.1318G>T (p.Ala440Ser) | |
22 | g.43946267C>A | CA411847783 | PNPLA3 | c.1331C>A (p.Ala444Asp) c.*849+1472C>A (n.*849+1472C>A) c.1319C>A (p.Ala440Asp) | |
22 | g.43946267C= | CA2407489678 | PNPLA3 | c.1331C= (p.Ala444=) c.*849+1472C= (n.*849+1472C=) c.1319C= (p.Ala440=) | |
22 | g.43946267C>G | CA411847784 | PNPLA3 | c.1331C>G (p.Ala444Gly) c.*849+1472C>G (n.*849+1472C>G) c.1319C>G (p.Ala440Gly) | gnomAD v4 |
22 | g.43946267C>T | CA324869416 | PNPLA3 | c.1331C>T (p.Ala444Val) c.*849+1472C>T (n.*849+1472C>T) c.1319C>T (p.Ala440Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946268C>A | CA515083273 | PNPLA3 | c.1332C>A (p.Ala444=) c.*849+1473C>A (n.*849+1473C>A) c.1320C>A (p.Ala440=) | |
22 | g.43946268C>G | CA515083276 | PNPLA3 | c.1332C>G (p.Ala444=) c.*849+1473C>G (n.*849+1473C>G) c.1320C>G (p.Ala440=) | |
22 | g.43946268C>T | CA515083278 | PNPLA3 | c.1332C>T (p.Ala444=) c.*849+1473C>T (n.*849+1473C>T) c.1320C>T (p.Ala440=) | gnomAD v4 |
22 | g.43946269A= | CA2407489679 | PNPLA3 | c.1333A= (p.Thr445=) c.*849+1474A= (n.*849+1474A=) c.1321A= (p.Thr441=) | |
22 | g.43946269A>C | CA411847787 | PNPLA3 | c.1333A>C (p.Thr445Pro) c.*849+1474A>C (n.*849+1474A>C) c.1321A>C (p.Thr441Pro) | |
22 | g.43946269A>G | CA411847788 | PNPLA3 | c.1333A>G (p.Thr445Ala) c.*849+1474A>G (n.*849+1474A>G) c.1321A>G (p.Thr441Ala) | dbSNP |
22 | g.43946269A>T | CA411847790 | PNPLA3 | c.1333A>T (p.Thr445Ser) c.*849+1474A>T (n.*849+1474A>T) c.1321A>T (p.Thr441Ser) | |
22 | g.43946270C>A | CA10278254 | PNPLA3 | c.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 |
22 | g.43946270C= | CA2407489680 | PNPLA3 | c.1334C= (p.Thr445=) c.*849+1475C= (n.*849+1475C=) c.1322C= (p.Thr441=) | |
22 | g.43946270C>G | CA411847793 | PNPLA3 | c.1334C>G (p.Thr445Ser) c.*849+1475C>G (n.*849+1475C>G) c.1322C>G (p.Thr441Ser) | |
22 | g.43946270C>T | CA10278253 | PNPLA3 | c.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 |
22 | g.43946272_43946273dup | CA10278252 | PNPLA3 | c.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 |
22 | g.43946271C>A | CA10278255 | PNPLA3 | c.1335C>A (p.Thr445=) c.*849+1476C>A (n.*849+1476C>A) c.1323C>A (p.Thr441=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.43946271C= | CA2407489681 | PNPLA3 | c.1335C= (p.Thr445=) c.*849+1476C= (n.*849+1476C=) c.1323C= (p.Thr441=) | |
22 | g.43946271C>G | CA515083294 | PNPLA3 | c.1335C>G (p.Thr445=) c.*849+1476C>G (n.*849+1476C>G) c.1323C>G (p.Thr441=) | gnomAD v4 |
22 | g.43946271C>T | CA515083298 | PNPLA3 | c.1335C>T (p.Thr445=) c.*849+1476C>T (n.*849+1476C>T) c.1323C>T (p.Thr441=) | |
22 | g.43946272C>A | CA411847796 | PNPLA3 | c.1336C>A (p.Pro446Thr) c.*849+1477C>A (n.*849+1477C>A) c.1324C>A (p.Pro442Thr) | |
22 | g.43946272C= | CA2407489682 | PNPLA3 | c.1336C= (p.Pro446=) c.*849+1477C= (n.*849+1477C=) c.1324C= (p.Pro442=) | |
22 | g.43946272C>G | CA411847798 | PNPLA3 | c.1336C>G (p.Pro446Ala) c.*849+1477C>G (n.*849+1477C>G) c.1324C>G (p.Pro442Ala) | |
22 | g.43946272C>T | CA411847799 | PNPLA3 | c.1336C>T (p.Pro446Ser) c.*849+1477C>T (n.*849+1477C>T) c.1324C>T (p.Pro442Ser) | dbSNP |
22 | g.43946273C>A | CA411847801 | PNPLA3 | c.1337C>A (p.Pro446Gln) c.*849+1478C>A (n.*849+1478C>A) c.1325C>A (p.Pro442Gln) | |
22 | g.43946273C= | CA2407489683 | PNPLA3 | c.1337C= (p.Pro446=) c.*849+1478C= (n.*849+1478C=) c.1325C= (p.Pro442=) | |
22 | g.43946273C>G | CA411847803 | PNPLA3 | c.1337C>G (p.Pro446Arg) c.*849+1478C>G (n.*849+1478C>G) c.1325C>G (p.Pro442Arg) | |
22 | g.43946273C>T | CA10278256 | PNPLA3 | c.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 |
22 | g.43946274G>A | CA10278257 | PNPLA3 | c.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 |
22 | g.43946274G>C | CA515083310 | PNPLA3 | c.1338G>C (p.Pro446=) c.*849+1479G>C (n.*849+1479G>C) c.1326G>C (p.Pro442=) | |
22 | g.43946274G= | CA2407489684 | PNPLA3 | c.1338G= (p.Pro446=) c.*849+1479G= (n.*849+1479G=) c.1326G= (p.Pro442=) | |
22 | g.43946274G>T | CA515083312 | PNPLA3 | c.1338G>T (p.Pro446=) c.*849+1479G>T (n.*849+1479G>T) c.1326G>T (p.Pro442=) | |
22 | g.43946275C>A | CA515083315 | PNPLA3 | c.1339C>A (p.Arg447=) c.*849+1480C>A (n.*849+1480C>A) c.1327C>A (p.Arg443=) | |
22 | g.43946275C= | CA2407489685 | PNPLA3 | c.1339C= (p.Arg447=) c.*849+1480C= (n.*849+1480C=) c.1327C= (p.Arg443=) | |
22 | g.43946275C>G | CA411847805 | PNPLA3 | c.1339C>G (p.Arg447Gly) c.*849+1480C>G (n.*849+1480C>G) c.1327C>G (p.Arg443Gly) | |
22 | g.43946275C>T | CA10278258 | PNPLA3 | c.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 |
22 | g.43946275_43946287delinsCGGTCCATCCTCA | CA2407489686 | PNPLA3 | c.1339_1351delinsCGGTCCATCCTCA (p.Arg447=) c.*849+1480_*849+1492delinsCGGTCCATCCTCA (n.*849+1480_*849+1492delinsCGGTCCATCCTCA) c.1327_1339delinsCGGTCCATCCTCA (p.Arg443=) | |
22 | g.43946276G>A | CA10278259 | PNPLA3 | c.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 |
22 | g.43946276G>C | CA10278260 | PNPLA3 | c.1340G>C (p.Arg447Pro) c.*849+1481G>C (n.*849+1481G>C) c.1328G>C (p.Arg443Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.43946276G= | CA2407489688 | PNPLA3 | c.1340G= (p.Arg447=) c.*849+1481G= (n.*849+1481G=) c.1328G= (p.Arg443=) | |
22 | g.43946276G>T | CA411847810 | PNPLA3 | c.1340G>T (p.Arg447Leu) c.*849+1481G>T (n.*849+1481G>T) c.1328G>T (p.Arg443Leu) | |
22 | g.43946282_43946293del | CA2407489687 | PNPLA3 | c.1346_1357del (p.Ile449_Ser452del) c.*849+1487_*849+1498del (n.*849+1487_*849+1498del) c.1334_1345del (p.Ile445_Ser448del) | dbSNP |
22 | g.43946277G>A | CA515083325 | PNPLA3 | c.1341G>A (p.Arg447=) c.*849+1482G>A (n.*849+1482G>A) c.1329G>A (p.Arg443=) | gnomAD v4 |
22 | g.43946277G>C | CA515083327 | PNPLA3 | c.1341G>C (p.Arg447=) c.*849+1482G>C (n.*849+1482G>C) c.1329G>C (p.Arg443=) | |
22 | g.43946277G>T | CA515083329 | PNPLA3 | c.1341G>T (p.Arg447=) c.*849+1482G>T (n.*849+1482G>T) c.1329G>T (p.Arg443=) | |
22 | g.43946278T>A | CA411847813 | PNPLA3 | c.1342T>A (p.Ser448Thr) c.*849+1483T>A (n.*849+1483T>A) c.1330T>A (p.Ser444Thr) | gnomAD v4 |
22 | g.43946278T>C | CA411847815 | PNPLA3 | c.1342T>C (p.Ser448Pro) c.*849+1483T>C (n.*849+1483T>C) c.1330T>C (p.Ser444Pro) | |
22 | g.43946278T>G | CA411847812 | PNPLA3 | c.1342T>G (p.Ser448Ala) c.*849+1483T>G (n.*849+1483T>G) c.1330T>G (p.Ser444Ala) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.43946278T= | CA2407489689 | PNPLA3 | c.1342T= (p.Ser448=) c.*849+1483T= (n.*849+1483T=) c.1330T= (p.Ser444=) | |
22 | g.43946279C>A | CA10278261 | PNPLA3 | c.1343C>A (p.Ser448Tyr) c.*849+1484C>A (n.*849+1484C>A) c.1331C>A (p.Ser444Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.43946279C= | CA2407489690 | PNPLA3 | c.1343C= (p.Ser448=) c.*849+1484C= (n.*849+1484C=) c.1331C= (p.Ser444=) | |
22 | g.43946279C>G | CA411847817 | PNPLA3 | c.1343C>G (p.Ser448Cys) c.*849+1484C>G (n.*849+1484C>G) c.1331C>G (p.Ser444Cys) | |
22 | g.43946279C>T | CA411847819 | PNPLA3 | c.1343C>T (p.Ser448Phe) c.*849+1484C>T (n.*849+1484C>T) c.1331C>T (p.Ser444Phe) | |
22 | g.43946280C>A | CA515083332 | PNPLA3 | c.1344C>A (p.Ser448=) c.*849+1485C>A (n.*849+1485C>A) c.1332C>A (p.Ser444=) | |
22 | g.43946280C>G | CA515083333 | PNPLA3 | c.1344C>G (p.Ser448=) c.*849+1485C>G (n.*849+1485C>G) c.1332C>G (p.Ser444=) | |
22 | g.43946280C>T | CA515083331 | PNPLA3 | c.1344C>T (p.Ser448=) c.*849+1485C>T (n.*849+1485C>T) c.1332C>T (p.Ser444=) | |
22 | g.43946281A= | CA2407489691 | PNPLA3 | c.1345A= (p.Ile449=) c.*849+1486A= (n.*849+1486A=) c.1333A= (p.Ile445=) | |
22 | g.43946281A>C | CA411847820 | PNPLA3 | c.1345A>C (p.Ile449Leu) c.*849+1486A>C (n.*849+1486A>C) c.1333A>C (p.Ile445Leu) | |
22 | g.43946281A>G | CA411847822 | PNPLA3 | c.1345A>G (p.Ile449Val) c.*849+1486A>G (n.*849+1486A>G) c.1333A>G (p.Ile445Val) | dbSNP gnomAD v4 |
22 | g.43946281A>T | CA411847823 | PNPLA3 | c.1345A>T (p.Ile449Phe) c.*849+1486A>T (n.*849+1486A>T) c.1333A>T (p.Ile445Phe) | |
22 | g.43946282T>A | CA411847825 | PNPLA3 | c.1346T>A (p.Ile449Asn) c.*849+1487T>A (n.*849+1487T>A) c.1334T>A (p.Ile445Asn) | |
22 | g.43946282T>C | CA411847828 | PNPLA3 | c.1346T>C (p.Ile449Thr) c.*849+1487T>C (n.*849+1487T>C) c.1334T>C (p.Ile445Thr) | |
22 | g.43946282T>G | CA411847826 | PNPLA3 | c.1346T>G (p.Ile449Ser) c.*849+1487T>G (n.*849+1487T>G) c.1334T>G (p.Ile445Ser) | gnomAD v4 |
22 | g.43946283C>A | CA515083338 | PNPLA3 | c.1347C>A (p.Ile449=) c.*849+1488C>A (n.*849+1488C>A) c.1335C>A (p.Ile445=) | |
22 | g.43946283C= | CA2407489692 | PNPLA3 | c.1347C= (p.Ile449=) c.*849+1488C= (n.*849+1488C=) c.1335C= (p.Ile445=) | |
22 | g.43946283C>G | CA411847829 | PNPLA3 | c.1347C>G (p.Ile449Met) c.*849+1488C>G (n.*849+1488C>G) c.1335C>G (p.Ile445Met) | |
22 | g.43946283C>T | CA515083341 | PNPLA3 | c.1347C>T (p.Ile449=) c.*849+1488C>T (n.*849+1488C>T) c.1335C>T (p.Ile445=) | dbSNP |
22 | g.43946284C>A | CA411847831 | PNPLA3 | c.1348C>A (p.Leu450Ile) c.*849+1489C>A (n.*849+1489C>A) c.1336C>A (p.Leu446Ile) | |
22 | g.43946284C= | CA2407489693 | PNPLA3 | c.1348C= (p.Leu450=) c.*849+1489C= (n.*849+1489C=) c.1336C= (p.Leu446=) | |
22 | g.43946284C>G | CA411847832 | PNPLA3 | c.1348C>G (p.Leu450Val) c.*849+1489C>G (n.*849+1489C>G) c.1336C>G (p.Leu446Val) | |
22 | g.43946284C>T | CA10278262 | PNPLA3 | c.1348C>T (p.Leu450Phe) c.*849+1489C>T (n.*849+1489C>T) c.1336C>T (p.Leu446Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.43946285T>A | CA411847838 | PNPLA3 | c.1349T>A (p.Leu450His) c.*849+1490T>A (n.*849+1490T>A) c.1337T>A (p.Leu446His) | |
22 | g.43946285T>C | CA411847834 | PNPLA3 | c.1349T>C (p.Leu450Pro) c.*849+1490T>C (n.*849+1490T>C) c.1337T>C (p.Leu446Pro) | |
22 | g.43946285T>G | CA411847836 | PNPLA3 | c.1349T>G (p.Leu450Arg) c.*849+1490T>G (n.*849+1490T>G) c.1337T>G (p.Leu446Arg) | |
22 | g.43946286C>A | CA515083352 | PNPLA3 | c.1350C>A (p.Leu450=) c.*849+1491C>A (n.*849+1491C>A) c.1338C>A (p.Leu446=) | |
22 | g.43946286C>G | CA515083354 | PNPLA3 | c.1350C>G (p.Leu450=) c.*849+1491C>G (n.*849+1491C>G) c.1338C>G (p.Leu446=) | |
22 | g.43946286C>T | CA515083357 | PNPLA3 | c.1350C>T (p.Leu450=) c.*849+1491C>T (n.*849+1491C>T) c.1338C>T (p.Leu446=) | |
22 | g.43946287A= | CA2407489694 | PNPLA3 | c.1351A= (p.Arg451=) c.*849+1492A= (n.*849+1492A=) c.1339A= (p.Arg447=) | |
22 | g.43946287A>C | CA515083360 | PNPLA3 | c.1351A>C (p.Arg451=) c.*849+1492A>C (n.*849+1492A>C) c.1339A>C (p.Arg447=) | |
22 | g.43946287A>G | CA411847839 | PNPLA3 | c.1351A>G (p.Arg451Gly) c.*849+1492A>G (n.*849+1492A>G) c.1339A>G (p.Arg447Gly) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.43946287A>T | CA10278263 | PNPLA3 | c.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 |
22 | g.43946288G>A | CA411847842 | PNPLA3 | c.1352G>A (p.Arg451Lys) c.*849+1493G>A (n.*849+1493G>A) c.1340G>A (p.Arg447Lys) | |
22 | g.43946288G>C | CA411847843 | PNPLA3 | c.1352G>C (p.Arg451Thr) c.*849+1493G>C (n.*849+1493G>C) c.1340G>C (p.Arg447Thr) | dbSNP |
22 | g.43946288G= | CA2407489695 | PNPLA3 | c.1352G= (p.Arg451=) c.*849+1493G= (n.*849+1493G=) c.1340G= (p.Arg447=) | |
22 | g.43946288G>T | CA411847845 | PNPLA3 | c.1352G>T (p.Arg451Met) c.*849+1493G>T (n.*849+1493G>T) c.1340G>T (p.Arg447Met) | |
22 | g.43946289G>A | CA515083377 | PNPLA3 | c.1353G>A (p.Arg451=) c.*849+1494G>A (n.*849+1494G>A) c.1341G>A (p.Arg447=) | |
22 | g.43946289G>C | CA411847847 | PNPLA3 | c.1353G>C (p.Arg451Ser) c.*849+1494G>C (n.*849+1494G>C) c.1341G>C (p.Arg447Ser) | |
22 | g.43946289G>T | CA411847848 | PNPLA3 | c.1353G>T (p.Arg451Ser) c.*849+1494G>T (n.*849+1494G>T) c.1341G>T (p.Arg447Ser) | |
22 | g.43946290T>A | CA411847850 | PNPLA3 | c.1354T>A (p.Ser452Thr) c.*849+1495T>A (n.*849+1495T>A) c.1342T>A (p.Ser448Thr) | |
22 | g.43946290T>C | CA411847852 | PNPLA3 | c.1354T>C (p.Ser452Pro) c.*849+1495T>C (n.*849+1495T>C) c.1342T>C (p.Ser448Pro) | |
22 | g.43946290T>G | CA411847853 | PNPLA3 | c.1354T>G (p.Ser452Ala) c.*849+1495T>G (n.*849+1495T>G) c.1342T>G (p.Ser448Ala) | |
22 | g.43946291C>A | CA411847856 | PNPLA3 | c.1355C>A (p.Ser452Tyr) c.*849+1496C>A (n.*849+1496C>A) c.1343C>A (p.Ser448Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946291C= | CA2407489696 | PNPLA3 | c.1355C= (p.Ser452=) c.*849+1496C= (n.*849+1496C=) c.1343C= (p.Ser448=) | |
22 | g.43946291C>G | CA411847857 | PNPLA3 | c.1355C>G (p.Ser452Cys) c.*849+1496C>G (n.*849+1496C>G) c.1343C>G (p.Ser448Cys) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.43946291C>T | CA411847859 | PNPLA3 | c.1355C>T (p.Ser452Phe) c.*849+1496C>T (n.*849+1496C>T) c.1343C>T (p.Ser448Phe) | |
22 | g.43946292C>A | CA515083389 | PNPLA3 | c.1356C>A (p.Ser452=) c.*849+1497C>A (n.*849+1497C>A) c.1344C>A (p.Ser448=) | |
22 | g.43946292C>G | CA515083392 | PNPLA3 | c.1356C>G (p.Ser452=) c.*849+1497C>G (n.*849+1497C>G) c.1344C>G (p.Ser448=) | |
22 | g.43946292C>T | CA515083395 | PNPLA3 | c.1356C>T (p.Ser452=) c.*849+1497C>T (n.*849+1497C>T) c.1344C>T (p.Ser448=) | gnomAD v4 |
22 | g.43946293A= | CA2407489697 | PNPLA3 | c.1357A= (p.Ser453=) c.*849+1498A= (n.*849+1498A=) c.1345A= (p.Ser449=) | |
22 | g.43946293A>C | CA411847861 | PNPLA3 | c.1357A>C (p.Ser453Arg) c.*849+1498A>C (n.*849+1498A>C) c.1345A>C (p.Ser449Arg) | |
22 | g.43946293A>G | CA324869417 | PNPLA3 | c.1357A>G (p.Ser453Gly) c.*849+1498A>G (n.*849+1498A>G) c.1345A>G (p.Ser449Gly) | dbSNP gnomAD v4 |
22 | g.43946293A>T | CA411847862 | PNPLA3 | c.1357A>T (p.Ser453Cys) c.*849+1498A>T (n.*849+1498A>T) c.1345A>T (p.Ser449Cys) | |
22 | g.43946294G>A | CA411847864 | PNPLA3 | c.1358G>A (p.Ser453Asn) c.*849+1499G>A (n.*849+1499G>A) c.1346G>A (p.Ser449Asn) | |
22 | g.43946294G>C | CA411847866 | PNPLA3 | c.1358G>C (p.Ser453Thr) c.*849+1499G>C (n.*849+1499G>C) c.1346G>C (p.Ser449Thr) | |
22 | g.43946294G= | CA2407489698 | PNPLA3 | c.1358G= (p.Ser453=) c.*849+1499G= (n.*849+1499G=) c.1346G= (p.Ser449=) | |
22 | g.43946294G>T | CA10278264 | PNPLA3 | c.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 |
22 | g.43946295C>A | CA411847869 | PNPLA3 | c.1359C>A (p.Ser453Arg) c.*849+1500C>A (n.*849+1500C>A) c.1347C>A (p.Ser449Arg) | gnomAD v4 |
22 | g.43946295C= | CA2407489699 | PNPLA3 | c.1359C= (p.Ser453=) c.*849+1500C= (n.*849+1500C=) c.1347C= (p.Ser449=) | |
22 | g.43946295C>G | CA10278265 | PNPLA3 | c.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 |
22 | g.43946295C>T | CA10278266 | PNPLA3 | c.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 |
22 | g.43946296C>A | CA411847875 | PNPLA3 | c.1360C>A (p.Leu454Met) c.*849+1501C>A (n.*849+1501C>A) c.1348C>A (p.Leu450Met) | |
22 | g.43946296C= | CA2407489700 | PNPLA3 | c.1360C= (p.Leu454=) c.*849+1501C= (n.*849+1501C=) c.1348C= (p.Leu450=) | |
22 | g.43946296C>G | CA411847874 | PNPLA3 | c.1360C>G (p.Leu454Val) c.*849+1501C>G (n.*849+1501C>G) c.1348C>G (p.Leu450Val) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.43946296C>T | CA515083416 | PNPLA3 | c.1360C>T (p.Leu454=) c.*849+1501C>T (n.*849+1501C>T) c.1348C>T (p.Leu450=) | |
22 | g.43946297T>A | CA411847877 | PNPLA3 | c.1361T>A (p.Leu454Gln) c.*849+1502T>A (n.*849+1502T>A) c.1349T>A (p.Leu450Gln) | |
22 | g.43946297T>C | CA411847879 | PNPLA3 | c.1361T>C (p.Leu454Pro) c.*849+1502T>C (n.*849+1502T>C) c.1349T>C (p.Leu450Pro) | |
22 | g.43946297T>G | CA411847881 | PNPLA3 | c.1361T>G (p.Leu454Arg) c.*849+1502T>G (n.*849+1502T>G) c.1349T>G (p.Leu450Arg) | |
22 | g.43946298G>A | CA515083424 | PNPLA3 | c.1362G>A (p.Leu454=) c.*849+1503G>A (n.*849+1503G>A) c.1350G>A (p.Leu450=) | |
22 | g.43946298G>C | CA515083426 | PNPLA3 | c.1362G>C (p.Leu454=) c.*849+1503G>C (n.*849+1503G>C) c.1350G>C (p.Leu450=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.43946298G= | CA2407489701 | PNPLA3 | c.1362G= (p.Leu454=) c.*849+1503G= (n.*849+1503G=) c.1350G= (p.Leu450=) | |
22 | g.43946298G>T | CA515083428 | PNPLA3 | c.1362G>T (p.Leu454=) c.*849+1503G>T (n.*849+1503G>T) c.1350G>T (p.Leu450=) |