Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.43946275_43946287delinsCGGTCCATCCTCACA2407489686PNPLA3c.1339_1351delinsCGGTCCATCCTCA (p.Arg447=)
c.*849+1480_*849+1492delinsCGGTCCATCCTCA (n.*849+1480_*849+1492delinsCGGTCCATCCTCA)
c.1327_1339delinsCGGTCCATCCTCA (p.Arg443=)
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.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=)
22g.43946299A=CA2407489702PNPLA3c.1363A= (p.Asn455=)
c.*849+1504A= (n.*849+1504A=)
c.1351A= (p.Asn451=)
22g.43946299A>CCA411847883PNPLA3c.1363A>C (p.Asn455His)
c.*849+1504A>C (n.*849+1504A>C)
c.1351A>C (p.Asn451His)
22g.43946299A>GCA411847884PNPLA3c.1363A>G (p.Asn455Asp)
c.*849+1504A>G (n.*849+1504A>G)
c.1351A>G (p.Asn451Asp)
22g.43946299A>TCA411847886PNPLA3c.1363A>T (p.Asn455Tyr)
c.*849+1504A>T (n.*849+1504A>T)
c.1351A>T (p.Asn451Tyr)
22g.43946300A=CA2407489704PNPLA3c.1364A= (p.Asn455=)
c.*849+1505A= (n.*849+1505A=)
c.1352A= (p.Asn451=)
22g.43946300A>CCA411847891PNPLA3c.1364A>C (p.Asn455Thr)
c.*849+1505A>C (n.*849+1505A>C)
c.1352A>C (p.Asn451Thr)
22g.43946300A>GCA10278269PNPLA3c.1364A>G (p.Asn455Ser)
c.*849+1505A>G (n.*849+1505A>G)
c.1352A>G (p.Asn451Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.43946300A>TCA411847889PNPLA3c.1364A>T (p.Asn455Ile)
c.*849+1505A>T (n.*849+1505A>T)
c.1352A>T (p.Asn451Ile)
22g.43946300_43946303delinsACTTCA2407489703PNPLA3c.1364_1367delinsACTT (p.Asn455=)
c.*849+1505_*849+1508delinsACTT (n.*849+1505_*849+1508delinsACTT)
c.1352_1355delinsACTT (p.Asn451=)
22g.43946300_43946303dupCA10278267PNPLA3c.1364_1367dup (p.Phe456LeufsTer7)
c.*849+1505_*849+1508dup (n.*849+1505_*849+1508dup)
c.1352_1355dup (p.Phe452LeufsTer7)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.43946301C>ACA411847894PNPLA3c.1365C>A (p.Asn455Lys)
c.*849+1506C>A (n.*849+1506C>A)
c.1353C>A (p.Asn451Lys)
22g.43946301C>GCA411847896PNPLA3c.1365C>G (p.Asn455Lys)
c.*849+1506C>G (n.*849+1506C>G)
c.1353C>G (p.Asn451Lys)
22g.43946301C>TCA515082889PNPLA3c.1365C>T (p.Asn455=)
c.*849+1506C>T (n.*849+1506C>T)
c.1353C>T (p.Asn451=)
22g.43946307_43946309delCA10278268PNPLA3c.1371_1373del (p.Phe457del)
c.*849+1512_*849+1514del (n.*849+1512_*849+1514del)
c.1359_1361del (p.Phe453del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.43946302T>ACA10278270PNPLA3c.1366T>A (p.Phe456Ile)
c.*849+1507T>A (n.*849+1507T>A)
c.1354T>A (p.Phe452Ile)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
22g.43946302T>CCA411847900PNPLA3c.1366T>C (p.Phe456Leu)
c.*849+1507T>C (n.*849+1507T>C)
c.1354T>C (p.Phe452Leu)
22g.43946302T>GCA411847901PNPLA3c.1366T>G (p.Phe456Val)
c.*849+1507T>G (n.*849+1507T>G)
c.1354T>G (p.Phe452Val)
dbSNP gnomAD v3 gnomAD v4
22g.43946302T=CA2407489705PNPLA3c.1366T= (p.Phe456=)
c.*849+1507T= (n.*849+1507T=)
c.1354T= (p.Phe452=)
22g.43946303T>ACA411847903PNPLA3c.1367T>A (p.Phe456Tyr)
c.*849+1508T>A (n.*849+1508T>A)
c.1355T>A (p.Phe452Tyr)
gnomAD v4 COSMIC
22g.43946303T>CCA411847905PNPLA3c.1367T>C (p.Phe456Ser)
c.*849+1508T>C (n.*849+1508T>C)
c.1355T>C (p.Phe452Ser)
22g.43946303T>GCA411847906PNPLA3c.1367T>G (p.Phe456Cys)
c.*849+1508T>G (n.*849+1508T>G)
c.1355T>G (p.Phe452Cys)
22g.43946304C>ACA411847908PNPLA3c.1368C>A (p.Phe456Leu)
c.*849+1509C>A (n.*849+1509C>A)
c.1356C>A (p.Phe452Leu)
dbSNP gnomAD v4
22g.43946304C=CA2407489706PNPLA3c.1368C= (p.Phe456=)
c.*849+1509C= (n.*849+1509C=)
c.1356C= (p.Phe452=)
22g.43946304C>GCA411847911PNPLA3c.1368C>G (p.Phe456Leu)
c.*849+1509C>G (n.*849+1509C>G)
c.1356C>G (p.Phe452Leu)
22g.43946304C>TCA515082905PNPLA3c.1368C>T (p.Phe456=)
c.*849+1509C>T (n.*849+1509C>T)
c.1356C>T (p.Phe452=)
22g.43946305T>ACA411847912PNPLA3c.1369T>A (p.Phe457Ile)
c.*849+1510T>A (n.*849+1510T>A)
c.1357T>A (p.Phe453Ile)
22g.43946305T>CCA411847913PNPLA3c.1369T>C (p.Phe457Leu)
c.*849+1510T>C (n.*849+1510T>C)
c.1357T>C (p.Phe453Leu)
gnomAD v4
22g.43946305T>GCA411847915PNPLA3c.1369T>G (p.Phe457Val)
c.*849+1510T>G (n.*849+1510T>G)
c.1357T>G (p.Phe453Val)
22g.43946306T>ACA411847917PNPLA3c.1370T>A (p.Phe457Tyr)
c.*849+1511T>A (n.*849+1511T>A)
c.1358T>A (p.Phe453Tyr)
22g.43946306T>CCA411847919PNPLA3c.1370T>C (p.Phe457Ser)
c.*849+1511T>C (n.*849+1511T>C)
c.1358T>C (p.Phe453Ser)
22g.43946306T>GCA411847920PNPLA3c.1370T>G (p.Phe457Cys)
c.*849+1511T>G (n.*849+1511T>G)
c.1358T>G (p.Phe453Cys)
22g.43946307C>ACA411847922PNPLA3c.1371C>A (p.Phe457Leu)
c.*849+1512C>A (n.*849+1512C>A)
c.1359C>A (p.Phe453Leu)
COSMIC
22g.43946307C>GCA411847924PNPLA3c.1371C>G (p.Phe457Leu)
c.*849+1512C>G (n.*849+1512C>G)
c.1359C>G (p.Phe453Leu)
22g.43946307C>TCA515082909PNPLA3c.1371C>T (p.Phe457=)
c.*849+1512C>T (n.*849+1512C>T)
c.1359C>T (p.Phe453=)
gnomAD v4
22g.43946308T>ACA411847925PNPLA3c.1372T>A (p.Leu458Met)
c.*849+1513T>A (n.*849+1513T>A)
c.1360T>A (p.Leu454Met)
22g.43946308T>CCA10278271PNPLA3c.1372T>C (p.Leu458=)
c.*849+1513T>C (n.*849+1513T>C)
c.1360T>C (p.Leu454=)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.43946308T>GCA411847928PNPLA3c.1372T>G (p.Leu458Val)
c.*849+1513T>G (n.*849+1513T>G)
c.1360T>G (p.Leu454Val)
22g.43946308T=CA2407489707PNPLA3c.1372T= (p.Leu458=)
c.*849+1513T= (n.*849+1513T=)
c.1360T= (p.Leu454=)
22g.43946309T>ACA411847930PNPLA3c.1373T>A (p.Leu458Ter)
c.*849+1514T>A (n.*849+1514T>A)
c.1361T>A (p.Leu454Ter)
22g.43946309T>CCA411847931PNPLA3c.1373T>C (p.Leu458Ser)
c.*849+1514T>C (n.*849+1514T>C)
c.1361T>C (p.Leu454Ser)
22g.43946309T>GCA411847933PNPLA3c.1373T>G (p.Leu458Trp)
c.*849+1514T>G (n.*849+1514T>G)
c.1361T>G (p.Leu454Trp)
22g.43946310G>ACA515082921PNPLA3c.1374G>A (p.Leu458=)
c.*849+1515G>A (n.*849+1515G>A)
c.1362G>A (p.Leu454=)
22g.43946310G>CCA411847937PNPLA3c.1374G>C (p.Leu458Phe)
c.*849+1515G>C (n.*849+1515G>C)
c.1362G>C (p.Leu454Phe)
22g.43946310G>TCA411847935PNPLA3c.1374G>T (p.Leu458Phe)
c.*849+1515G>T (n.*849+1515G>T)
c.1362G>T (p.Leu454Phe)
22g.43946311G>ACA411847938PNPLA3c.1375G>A (p.Gly459Ser)
c.*849+1516G>A (n.*849+1516G>A)
c.1363G>A (p.Gly455Ser)
22g.43946311G>CCA411847939PNPLA3c.1375G>C (p.Gly459Arg)
c.*849+1516G>C (n.*849+1516G>C)
c.1363G>C (p.Gly455Arg)
22g.43946311G>TCA411847941PNPLA3c.1375G>T (p.Gly459Cys)
c.*849+1516G>T (n.*849+1516G>T)
c.1363G>T (p.Gly455Cys)
gnomAD v4
22g.43946312G>ACA10278272PNPLA3c.1376G>A (p.Gly459Asp)
c.*849+1517G>A (n.*849+1517G>A)
c.1364G>A (p.Gly455Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.43946312G>CCA411847946PNPLA3c.1376G>C (p.Gly459Ala)
c.*849+1517G>C (n.*849+1517G>C)
c.1364G>C (p.Gly455Ala)
22g.43946312G=CA2407489708PNPLA3c.1376G= (p.Gly459=)
c.*849+1517G= (n.*849+1517G=)
c.1364G= (p.Gly455=)
22g.43946312G>TCA411847948PNPLA3c.1376G>T (p.Gly459Val)
c.*849+1517G>T (n.*849+1517G>T)
c.1364G>T (p.Gly455Val)
gnomAD v4
22g.43946313C>ACA515082937PNPLA3c.1377C>A (p.Gly459=)
c.*849+1518C>A (n.*849+1518C>A)
c.1365C>A (p.Gly455=)
22g.43946313C>GCA515082935PNPLA3c.1377C>G (p.Gly459=)
c.*849+1518C>G (n.*849+1518C>G)
c.1365C>G (p.Gly455=)
dbSNP gnomAD v4
22g.43946313C>TCA515082933PNPLA3c.1377C>T (p.Gly459=)
c.*849+1518C>T (n.*849+1518C>T)
c.1365C>T (p.Gly455=)
gnomAD v4
22g.43946314A>CCA411847953PNPLA3c.1378A>C (p.Asn460His)
c.*849+1519A>C (n.*849+1519A>C)
c.1366A>C (p.Asn456His)
22g.43946314A>GCA411847950PNPLA3c.1378A>G (p.Asn460Asp)
c.*849+1519A>G (n.*849+1519A>G)
c.1366A>G (p.Asn456Asp)
22g.43946314A>TCA411847952PNPLA3c.1378A>T (p.Asn460Tyr)
c.*849+1519A>T (n.*849+1519A>T)
c.1366A>T (p.Asn456Tyr)
22g.43946315A=CA2407489709PNPLA3c.1379A= (p.Asn460=)
c.*849+1520A= (n.*849+1520A=)
c.1367A= (p.Asn456=)
22g.43946315A>CCA411847955PNPLA3c.1379A>C (p.Asn460Thr)
c.*849+1520A>C (n.*849+1520A>C)
c.1367A>C (p.Asn456Thr)
22g.43946315A>GCA10278273PNPLA3c.1379A>G (p.Asn460Ser)
c.*849+1520A>G (n.*849+1520A>G)
c.1367A>G (p.Asn456Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.43946315A>TCA411847958PNPLA3c.1379A>T (p.Asn460Ile)
c.*849+1520A>T (n.*849+1520A>T)
c.1367A>T (p.Asn456Ile)
22g.43946316T>ACA411847959PNPLA3c.1380T>A (p.Asn460Lys)
c.*849+1521T>A (n.*849+1521T>A)
c.1368T>A (p.Asn456Lys)
22g.43946316T>CCA515082948PNPLA3c.1380T>C (p.Asn460=)
c.*849+1521T>C (n.*849+1521T>C)
c.1368T>C (p.Asn456=)
22g.43946316T>GCA411847961PNPLA3c.1380T>G (p.Asn460Lys)
c.*849+1521T>G (n.*849+1521T>G)
c.1368T>G (p.Asn456Lys)
22g.43946317A>CCA411847966PNPLA3c.1381A>C (p.Lys461Gln)
c.*849+1522A>C (n.*849+1522A>C)
c.1369A>C (p.Lys457Gln)
22g.43946317A>GCA411847963PNPLA3c.1381A>G (p.Lys461Glu)
c.*849+1522A>G (n.*849+1522A>G)
c.1369A>G (p.Lys457Glu)
22g.43946317A>TCA411847964PNPLA3c.1381A>T (p.Lys461Ter)
c.*849+1522A>T (n.*849+1522A>T)
c.1369A>T (p.Lys457Ter)
22g.43946318A>CCA411847968PNPLA3c.1382A>C (p.Lys461Thr)
c.*849+1523A>C (n.*849+1523A>C)
c.1370A>C (p.Lys457Thr)
22g.43946318A>GCA411847970PNPLA3c.1382A>G (p.Lys461Arg)
c.*849+1523A>G (n.*849+1523A>G)
c.1370A>G (p.Lys457Arg)
COSMIC
22g.43946318A>TCA411847972PNPLA3c.1382A>T (p.Lys461Ile)
c.*849+1523A>T (n.*849+1523A>T)
c.1370A>T (p.Lys457Ile)
22g.43946319A>CCA411847973PNPLA3c.1383A>C (p.Lys461Asn)
c.*849+1524A>C (n.*849+1524A>C)
c.1371A>C (p.Lys457Asn)
22g.43946319A>GCA515082960PNPLA3c.1383A>G (p.Lys461=)
c.*849+1524A>G (n.*849+1524A>G)
c.1371A>G (p.Lys457=)
22g.43946319A>TCA411847974PNPLA3c.1383A>T (p.Lys461Asn)
c.*849+1524A>T (n.*849+1524A>T)
c.1371A>T (p.Lys457Asn)
22g.43946320G>ACA10278274PNPLA3c.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
22g.43946320G>CCA411847978PNPLA3c.1384G>C (p.Val462Leu)
c.*849+1525G>C (n.*849+1525G>C)
c.1372G>C (p.Val458Leu)
22g.43946320G=CA2407489710PNPLA3c.1384G= (p.Val462=)
c.*849+1525G= (n.*849+1525G=)
c.1372G= (p.Val458=)
22g.43946320G>TCA411847976PNPLA3c.1384G>T (p.Val462Leu)
c.*849+1525G>T (n.*849+1525G>T)
c.1372G>T (p.Val458Leu)
22g.43946321T>ACA411847980PNPLA3c.1385T>A (p.Val462Glu)
c.*849+1526T>A (n.*849+1526T>A)
c.1373T>A (p.Val458Glu)
22g.43946321T>CCA411847981PNPLA3c.1385T>C (p.Val462Ala)
c.*849+1526T>C (n.*849+1526T>C)
c.1373T>C (p.Val458Ala)
22g.43946321T>GCA411847982PNPLA3c.1385T>G (p.Val462Gly)
c.*849+1526T>G (n.*849+1526T>G)
c.1373T>G (p.Val458Gly)
22g.43946322A>CCA515082974PNPLA3c.1386A>C (p.Val462=)
c.*849+1527A>C (n.*849+1527A>C)
c.1374A>C (p.Val458=)
22g.43946322A>GCA515082976PNPLA3c.1386A>G (p.Val462=)
c.*849+1527A>G (n.*849+1527A>G)
c.1374A>G (p.Val458=)
22g.43946322A>TCA515082977PNPLA3c.1386A>T (p.Val462=)
c.*849+1527A>T (n.*849+1527A>T)
c.1374A>T (p.Val458=)
22g.43946322_43946323delCA2577772141PNPLA3c.1386_1387del (p.Pro463CysfsTer4)
c.*849+1527_*849+1528del (n.*849+1527_*849+1528del)
c.1374_1375del (p.Pro459CysfsTer4)
22g.43946323C>ACA411847985PNPLA3c.1387C>A (p.Pro463Thr)
c.*849+1528C>A (n.*849+1528C>A)
c.1375C>A (p.Pro459Thr)
22g.43946323C>GCA411847986PNPLA3c.1387C>G (p.Pro463Ala)
c.*849+1528C>G (n.*849+1528C>G)
c.1375C>G (p.Pro459Ala)
22g.43946323C>TCA411847987PNPLA3c.1387C>T (p.Pro463Ser)
c.*849+1528C>T (n.*849+1528C>T)
c.1375C>T (p.Pro459Ser)
gnomAD v4
22g.43946324C>ACA411847992PNPLA3c.1388C>A (p.Pro463His)
c.*849+1529C>A (n.*849+1529C>A)
c.1376C>A (p.Pro459His)
gnomAD v4
22g.43946324C>GCA411847989PNPLA3c.1388C>G (p.Pro463Arg)
c.*849+1529C>G (n.*849+1529C>G)
c.1376C>G (p.Pro459Arg)
22g.43946324C>TCA411847990PNPLA3c.1388C>T (p.Pro463Leu)
c.*849+1529C>T (n.*849+1529C>T)
c.1376C>T (p.Pro459Leu)
22g.43946325T>ACA515082986PNPLA3c.1389T>A (p.Pro463=)
c.*849+1530T>A (n.*849+1530T>A)
c.1377T>A (p.Pro459=)
22g.43946325T>CCA515082988PNPLA3c.1389T>C (p.Pro463=)
c.*849+1530T>C (n.*849+1530T>C)
c.1377T>C (p.Pro459=)
22g.43946325T>GCA515083002PNPLA3c.1389T>G (p.Pro463=)
c.*849+1530T>G (n.*849+1530T>G)
c.1377T>G (p.Pro459=)
22g.43946326G>ACA411847994PNPLA3c.1390G>A (p.Ala464Thr)
c.*849+1531G>A (n.*849+1531G>A)
c.1378G>A (p.Ala460Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.43946326G>CCA411847995PNPLA3c.1390G>C (p.Ala464Pro)
c.*849+1531G>C (n.*849+1531G>C)
c.1378G>C (p.Ala460Pro)
22g.43946326G=CA2407489711PNPLA3c.1390G= (p.Ala464=)
c.*849+1531G= (n.*849+1531G=)
c.1378G= (p.Ala460=)
22g.43946326G>TCA411847997PNPLA3c.1390G>T (p.Ala464Ser)
c.*849+1531G>T (n.*849+1531G>T)
c.1378G>T (p.Ala460Ser)
22g.43946327C>ACA411847999PNPLA3c.1391C>A (p.Ala464Asp)
c.*849+1532C>A (n.*849+1532C>A)
c.1379C>A (p.Ala460Asp)
22g.43946327C>GCA411848000PNPLA3c.1391C>G (p.Ala464Gly)
c.*849+1532C>G (n.*849+1532C>G)
c.1379C>G (p.Ala460Gly)
22g.43946327C>TCA411848002PNPLA3c.1391C>T (p.Ala464Val)
c.*849+1532C>T (n.*849+1532C>T)
c.1379C>T (p.Ala460Val)
22g.43946328T>ACA515083014PNPLA3c.1392T>A (p.Ala464=)
c.*849+1533T>A (n.*849+1533T>A)
c.1380T>A (p.Ala460=)
22g.43946328T>CCA515083016PNPLA3c.1392T>C (p.Ala464=)
c.*849+1533T>C (n.*849+1533T>C)
c.1380T>C (p.Ala460=)
22g.43946328T>GCA515083019PNPLA3c.1392T>G (p.Ala464=)
c.*849+1533T>G (n.*849+1533T>G)
c.1380T>G (p.Ala460=)
gnomAD v4
22g.43946329G>ACA324869418PNPLA3c.1393G>A (p.Gly465Ser)
c.*849+1534G>A (n.*849+1534G>A)
c.1381G>A (p.Gly461Ser)
dbSNP
22g.43946329G>CCA411848005PNPLA3c.1393G>C (p.Gly465Arg)
c.*849+1534G>C (n.*849+1534G>C)
c.1381G>C (p.Gly461Arg)
22g.43946329G=CA2407489712PNPLA3c.1393G= (p.Gly465=)
c.*849+1534G= (n.*849+1534G=)
c.1381G= (p.Gly461=)
22g.43946329G>TCA411848007PNPLA3c.1393G>T (p.Gly465Cys)
c.*849+1534G>T (n.*849+1534G>T)
c.1381G>T (p.Gly461Cys)
22g.43946330G>ACA411848008PNPLA3c.1394G>A (p.Gly465Asp)
c.*849+1535G>A (n.*849+1535G>A)
c.1382G>A (p.Gly461Asp)
22g.43946330G>CCA411848010PNPLA3c.1394G>C (p.Gly465Ala)
c.*849+1535G>C (n.*849+1535G>C)
c.1382G>C (p.Gly461Ala)
22g.43946330G>TCA411848011PNPLA3c.1394G>T (p.Gly465Val)
c.*849+1535G>T (n.*849+1535G>T)
c.1382G>T (p.Gly461Val)
gnomAD v4
22g.43946331T>ACA515083032PNPLA3c.1395T>A (p.Gly465=)
c.*849+1536T>A (n.*849+1536T>A)
c.1383T>A (p.Gly461=)
22g.43946331T>CCA515083035PNPLA3c.1395T>C (p.Gly465=)
c.*849+1536T>C (n.*849+1536T>C)
c.1383T>C (p.Gly461=)
22g.43946331T>GCA515083031PNPLA3c.1395T>G (p.Gly465=)
c.*849+1536T>G (n.*849+1536T>G)
c.1383T>G (p.Gly461=)
22g.43946332G>ACA411848014PNPLA3c.1396G>A (p.Ala466Thr)
c.*849+1537G>A (n.*849+1537G>A)
c.1384G>A (p.Ala462Thr)
22g.43946332G>CCA411848015PNPLA3c.1396G>C (p.Ala466Pro)
c.*849+1537G>C (n.*849+1537G>C)
c.1384G>C (p.Ala462Pro)
22g.43946332G=CA2407489713PNPLA3c.1396G= (p.Ala466=)
c.*849+1537G= (n.*849+1537G=)
c.1384G= (p.Ala462=)
22g.43946332G>TCA10278275PNPLA3c.1396G>T (p.Ala466Ser)
c.*849+1537G>T (n.*849+1537G>T)
c.1384G>T (p.Ala462Ser)
dbSNP ExAC gnomAD v2
22g.43946333C>ACA411848017PNPLA3c.1397C>A (p.Ala466Asp)
c.*849+1538C>A (n.*849+1538C>A)
c.1385C>A (p.Ala462Asp)
22g.43946333C=CA2407489714PNPLA3c.1397C= (p.Ala466=)
c.*849+1538C= (n.*849+1538C=)
c.1385C= (p.Ala462=)
22g.43946333C>GCA411848019PNPLA3c.1397C>G (p.Ala466Gly)
c.*849+1538C>G (n.*849+1538C>G)
c.1385C>G (p.Ala462Gly)
dbSNP gnomAD v4
22g.43946333C>TCA324869419PNPLA3c.1397C>T (p.Ala466Val)
c.*849+1538C>T (n.*849+1538C>T)
c.1385C>T (p.Ala462Val)
dbSNP gnomAD v2 gnomAD v4
22g.43946334delCA2738211621PNPLA3c.1398del (p.Glu467ArgfsTer11)
c.*849+1539del (n.*849+1539del)
c.1386del (p.Glu463ArgfsTer11)
dbSNP
22g.43946334T>ACA515083045PNPLA3c.1398T>A (p.Ala466=)
c.*849+1539T>A (n.*849+1539T>A)
c.1386T>A (p.Ala462=)
22g.43946334T>CCA515083046PNPLA3c.1398T>C (p.Ala466=)
c.*849+1539T>C (n.*849+1539T>C)
c.1386T>C (p.Ala462=)
dbSNP gnomAD v4
22g.43946334T>GCA515083048PNPLA3c.1398T>G (p.Ala466=)
c.*849+1539T>G (n.*849+1539T>G)
c.1386T>G (p.Ala462=)
22g.43946334T=CA2407489715PNPLA3c.1398T= (p.Ala466=)
c.*849+1539T= (n.*849+1539T=)
c.1386T= (p.Ala462=)
22g.43946335G>ACA411848021PNPLA3c.1399G>A (p.Glu467Lys)
c.*849+1540G>A (n.*849+1540G>A)
c.1387G>A (p.Glu463Lys)
22g.43946335G>CCA411848023PNPLA3c.1399G>C (p.Glu467Gln)
c.*849+1540G>C (n.*849+1540G>C)
c.1387G>C (p.Glu463Gln)
COSMIC
22g.43946335G>TCA411848025PNPLA3c.1399G>T (p.Glu467Ter)
c.*849+1540G>T (n.*849+1540G>T)
c.1387G>T (p.Glu463Ter)
22g.43946336A>CCA411848030PNPLA3c.1400A>C (p.Glu467Ala)
c.*849+1541A>C (n.*849+1541A>C)
c.1388A>C (p.Glu463Ala)
22g.43946336A>GCA411848027PNPLA3c.1400A>G (p.Glu467Gly)
c.*849+1541A>G (n.*849+1541A>G)
c.1388A>G (p.Glu463Gly)
22g.43946336A>TCA411848028PNPLA3c.1400A>T (p.Glu467Val)
c.*849+1541A>T (n.*849+1541A>T)
c.1388A>T (p.Glu463Val)
22g.43946337G>ACA515083062PNPLA3c.1401G>A (p.Glu467=)
c.*849+1542G>A (n.*849+1542G>A)
c.1389G>A (p.Glu463=)
dbSNP gnomAD v2 gnomAD v4
22g.43946337G>CCA411848032PNPLA3c.1401G>C (p.Glu467Asp)
c.*849+1542G>C (n.*849+1542G>C)
c.1389G>C (p.Glu463Asp)
22g.43946337G=CA2407489716PNPLA3c.1401G= (p.Glu467=)
c.*849+1542G= (n.*849+1542G=)
c.1389G= (p.Glu463=)
22g.43946337G>TCA411848034PNPLA3c.1401G>T (p.Glu467Asp)
c.*849+1542G>T (n.*849+1542G>T)
c.1389G>T (p.Glu463Asp)
22g.43946338G>ACA411848035PNPLA3c.1402G>A (p.Gly468Arg)
c.*849+1543G>A (n.*849+1543G>A)
c.1390G>A (p.Gly464Arg)
COSMIC
22g.43946338G>CCA411848036PNPLA3c.1402G>C (p.Gly468Arg)
c.*849+1543G>C (n.*849+1543G>C)
c.1390G>C (p.Gly464Arg)
22g.43946338G>TCA411848038PNPLA3c.1402G>T (p.Gly468Trp)
c.*849+1543G>T (n.*849+1543G>T)
c.1390G>T (p.Gly464Trp)
22g.43946339G>ACA411848043PNPLA3c.1403G>A (p.Gly468Glu)
c.*849+1544G>A (n.*849+1544G>A)
c.1391G>A (p.Gly464Glu)
dbSNP gnomAD v2 gnomAD v4
22g.43946339G>CCA411848040PNPLA3c.1403G>C (p.Gly468Ala)
c.*849+1544G>C (n.*849+1544G>C)
c.1391G>C (p.Gly464Ala)
22g.43946339G=CA2407489717PNPLA3c.1403G= (p.Gly468=)
c.*849+1544G= (n.*849+1544G=)
c.1391G= (p.Gly464=)
22g.43946339G>TCA411848042PNPLA3c.1403G>T (p.Gly468Val)
c.*849+1544G>T (n.*849+1544G>T)
c.1391G>T (p.Gly464Val)
gnomAD v4
22g.43946340G>ACA515083072PNPLA3c.1404G>A (p.Gly468=)
c.*849+1545G>A (n.*849+1545G>A)
c.1392G>A (p.Gly464=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.43946340G>CCA515083074PNPLA3c.1404G>C (p.Gly468=)
c.*849+1545G>C (n.*849+1545G>C)
c.1392G>C (p.Gly464=)
22g.43946340G=CA2407489718PNPLA3c.1404G= (p.Gly468=)
c.*849+1545G= (n.*849+1545G=)
c.1392G= (p.Gly464=)
22g.43946340G>TCA515083077PNPLA3c.1404G>T (p.Gly468=)
c.*849+1545G>T (n.*849+1545G>T)
c.1392G>T (p.Gly464=)
22g.43946341C>ACA411848045PNPLA3c.1405C>A (p.Leu469Ile)
c.*849+1546C>A (n.*849+1546C>A)
c.1393C>A (p.Leu465Ile)
22g.43946341C>GCA411848047PNPLA3c.1405C>G (p.Leu469Val)
c.*849+1546C>G (n.*849+1546C>G)
c.1393C>G (p.Leu465Val)
22g.43946341C>TCA411848049PNPLA3c.1405C>T (p.Leu469Phe)
c.*849+1546C>T (n.*849+1546C>T)
c.1393C>T (p.Leu465Phe)
gnomAD v4
22g.43946342T>ACA411848051PNPLA3c.1406T>A (p.Leu469His)
c.*849+1547T>A (n.*849+1547T>A)
c.1394T>A (p.Leu465His)
gnomAD v4
22g.43946342T>CCA411848052PNPLA3c.1406T>C (p.Leu469Pro)
c.*849+1547T>C (n.*849+1547T>C)
c.1394T>C (p.Leu465Pro)
22g.43946342T>GCA411848054PNPLA3c.1406T>G (p.Leu469Arg)
c.*849+1547T>G (n.*849+1547T>G)
c.1394T>G (p.Leu465Arg)
22g.43946343C>ACA515083087PNPLA3c.1407C>A (p.Leu469=)
c.*849+1548C>A (n.*849+1548C>A)
c.1395C>A (p.Leu465=)
22g.43946343C>GCA515083089PNPLA3c.1407C>G (p.Leu469=)
c.*849+1548C>G (n.*849+1548C>G)
c.1395C>G (p.Leu465=)
22g.43946343C>TCA515083091PNPLA3c.1407C>T (p.Leu469=)
c.*849+1548C>T (n.*849+1548C>T)
c.1395C>T (p.Leu465=)
22g.43946344T>ACA411848056PNPLA3c.1408T>A (p.Ser470Thr)
c.*849+1549T>A (n.*849+1549T>A)
c.1396T>A (p.Ser466Thr)
22g.43946344T>CCA411848057PNPLA3c.1408T>C (p.Ser470Pro)
c.*849+1549T>C (n.*849+1549T>C)
c.1396T>C (p.Ser466Pro)
22g.43946344T>GCA10278276PNPLA3c.1408T>G (p.Ser470Ala)
c.*849+1549T>G (n.*849+1549T>G)
c.1396T>G (p.Ser466Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.43946344T=CA2407489719PNPLA3c.1408T= (p.Ser470=)
c.*849+1549T= (n.*849+1549T=)
c.1396T= (p.Ser466=)
22g.43946345C>ACA411848060PNPLA3c.1409C>A (p.Ser470Tyr)
c.*849+1550C>A (n.*849+1550C>A)
c.1397C>A (p.Ser466Tyr)
22g.43946345C=CA2407489720PNPLA3c.1409C= (p.Ser470=)
c.*849+1550C= (n.*849+1550C=)
c.1397C= (p.Ser466=)
22g.43946345C>GCA411848062PNPLA3c.1409C>G (p.Ser470Cys)
c.*849+1550C>G (n.*849+1550C>G)
c.1397C>G (p.Ser466Cys)
22g.43946345C>TCA411848063PNPLA3c.1409C>T (p.Ser470Phe)
c.*849+1550C>T (n.*849+1550C>T)
c.1397C>T (p.Ser466Phe)
dbSNP gnomAD v2 gnomAD v4
22g.43946346C>ACA515083102PNPLA3c.1410C>A (p.Ser470=)
c.*849+1551C>A (n.*849+1551C>A)
c.1398C>A (p.Ser466=)
22g.43946346C=CA2407489721PNPLA3c.1410C= (p.Ser470=)
c.*849+1551C= (n.*849+1551C=)
c.1398C= (p.Ser466=)
22g.43946346C>GCA515083104PNPLA3c.1410C>G (p.Ser470=)
c.*849+1551C>G (n.*849+1551C>G)
c.1398C>G (p.Ser466=)
22g.43946346C>TCA515083106PNPLA3c.1410C>T (p.Ser470=)
c.*849+1551C>T (n.*849+1551C>T)
c.1398C>T (p.Ser466=)
dbSNP gnomAD v4
22g.43946347A>CCA411848064PNPLA3c.1411A>C (p.Thr471Pro)
c.*849+1552A>C (n.*849+1552A>C)
c.1399A>C (p.Thr467Pro)
22g.43946347A>GCA411848068PNPLA3c.1411A>G (p.Thr471Ala)
c.*849+1552A>G (n.*849+1552A>G)
c.1399A>G (p.Thr467Ala)
22g.43946347A>TCA411848066PNPLA3c.1411A>T (p.Thr471Ser)
c.*849+1552A>T (n.*849+1552A>T)
c.1399A>T (p.Thr467Ser)
22g.43946348C>ACA411848069PNPLA3c.1412C>A (p.Thr471Asn)
c.*849+1553C>A (n.*849+1553C>A)
c.1400C>A (p.Thr467Asn)
22g.43946348C>GCA411848071PNPLA3c.1412C>G (p.Thr471Ser)
c.*849+1553C>G (n.*849+1553C>G)
c.1400C>G (p.Thr467Ser)
22g.43946348C>TCA411848072PNPLA3c.1412C>T (p.Thr471Ile)
c.*849+1553C>T (n.*849+1553C>T)
c.1400C>T (p.Thr467Ile)
gnomAD v4
22g.43946349C>ACA515083121PNPLA3c.1413C>A (p.Thr471=)
c.*849+1554C>A (n.*849+1554C>A)
c.1401C>A (p.Thr467=)
gnomAD v4
22g.43946349C>GCA515083122PNPLA3c.1413C>G (p.Thr471=)
c.*849+1554C>G (n.*849+1554C>G)
c.1401C>G (p.Thr467=)
22g.43946349C>TCA515083123PNPLA3c.1413C>T (p.Thr471=)
c.*849+1554C>T (n.*849+1554C>T)
c.1401C>T (p.Thr467=)
gnomAD v3 gnomAD v4
22g.43946350T>ACA411848075PNPLA3c.1414T>A (p.Phe472Ile)
c.*849+1555T>A (n.*849+1555T>A)
c.1402T>A (p.Phe468Ile)
22g.43946350T>CCA411848076PNPLA3c.1414T>C (p.Phe472Leu)
c.*849+1555T>C (n.*849+1555T>C)
c.1402T>C (p.Phe468Leu)
22g.43946350T>GCA411848078PNPLA3c.1414T>G (p.Phe472Val)
c.*849+1555T>G (n.*849+1555T>G)
c.1402T>G (p.Phe468Val)
dbSNP gnomAD v2 gnomAD v4
22g.43946350T=CA2407489722PNPLA3c.1414T= (p.Phe472=)
c.*849+1555T= (n.*849+1555T=)
c.1402T= (p.Phe468=)
22g.43946351T>ACA411848080PNPLA3c.1415T>A (p.Phe472Tyr)
c.*849+1556T>A (n.*849+1556T>A)
c.1403T>A (p.Phe468Tyr)
22g.43946351T>CCA411848081PNPLA3c.1415T>C (p.Phe472Ser)
c.*849+1556T>C (n.*849+1556T>C)
c.1403T>C (p.Phe468Ser)
22g.43946351T>GCA411848083PNPLA3c.1415T>G (p.Phe472Cys)
c.*849+1556T>G (n.*849+1556T>G)
c.1403T>G (p.Phe468Cys)
22g.43946352T>ACA411848085PNPLA3c.1416T>A (p.Phe472Leu)
c.*849+1557T>A (n.*849+1557T>A)
c.1404T>A (p.Phe468Leu)
22g.43946352T>CCA515083137PNPLA3c.1416T>C (p.Phe472=)
c.*849+1557T>C (n.*849+1557T>C)
c.1404T>C (p.Phe468=)
22g.43946352T>GCA411848087PNPLA3c.1416T>G (p.Phe472Leu)
c.*849+1557T>G (n.*849+1557T>G)
c.1404T>G (p.Phe468Leu)
22g.43946353C>ACA411848090PNPLA3c.1417C>A (p.Pro473Thr)
c.*849+1558C>A (n.*849+1558C>A)
c.1405C>A (p.Pro469Thr)
22g.43946353C>GCA411848089PNPLA3c.1417C>G (p.Pro473Ala)
c.*849+1558C>G (n.*849+1558C>G)
c.1405C>G (p.Pro469Ala)
22g.43946353C>TCA411848088PNPLA3c.1417C>T (p.Pro473Ser)
c.*849+1558C>T (n.*849+1558C>T)
c.1405C>T (p.Pro469Ser)
COSMIC
22g.43946354C>ACA411848092PNPLA3c.1418C>A (p.Pro473His)
c.*849+1559C>A (n.*849+1559C>A)
c.1406C>A (p.Pro469His)
22g.43946354C=CA2407489723PNPLA3c.1418C= (p.Pro473=)
c.*849+1559C= (n.*849+1559C=)
c.1406C= (p.Pro469=)
22g.43946354C>GCA411848094PNPLA3c.1418C>G (p.Pro473Arg)
c.*849+1559C>G (n.*849+1559C>G)
c.1406C>G (p.Pro469Arg)
22g.43946354C>TCA10278277PNPLA3c.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
22g.43946355C>ACA515083153PNPLA3c.1419C>A (p.Pro473=)
c.*849+1560C>A (n.*849+1560C>A)
c.1407C>A (p.Pro469=)
22g.43946355C=CA2407489724PNPLA3c.1419C= (p.Pro473=)
c.*849+1560C= (n.*849+1560C=)
c.1407C= (p.Pro469=)
22g.43946355C>GCA515083156PNPLA3c.1419C>G (p.Pro473=)
c.*849+1560C>G (n.*849+1560C>G)
c.1407C>G (p.Pro469=)
COSMIC
22g.43946355C>TCA10278278PNPLA3c.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
22g.43946356A>CCA411848100PNPLA3c.1420A>C (p.Ser474Arg)
c.*849+1561A>C (n.*849+1561A>C)
c.1408A>C (p.Ser470Arg)
22g.43946356A>GCA411848101PNPLA3c.1420A>G (p.Ser474Gly)
c.*849+1561A>G (n.*849+1561A>G)
c.1408A>G (p.Ser470Gly)
22g.43946356A>TCA411848103PNPLA3c.1420A>T (p.Ser474Cys)
c.*849+1561A>T (n.*849+1561A>T)
c.1408A>T (p.Ser470Cys)
22g.43946356_43946357insCTAGAGAAGACA2657154795PNPLA3c.1420_1421insCTAGAGAAGA (p.Ser474ThrfsTer20)
c.*849+1561_*849+1562insCTAGAGAAGA (n.*849+1561_*849+1562insCTAGAGAAGA)
c.1408_1409insCTAGAGAAGA (p.Ser470ThrfsTer20)
gnomAD v4
22g.43946357G>ACA411848104PNPLA3c.1421G>A (p.Ser474Asn)
c.*849+1562G>A (n.*849+1562G>A)
c.1409G>A (p.Ser470Asn)
22g.43946357G>CCA411848105PNPLA3c.1421G>C (p.Ser474Thr)
c.*849+1562G>C (n.*849+1562G>C)
c.1409G>C (p.Ser470Thr)
gnomAD v4
22g.43946357G>TCA411848106PNPLA3c.1421G>T (p.Ser474Ile)
c.*849+1562G>T (n.*849+1562G>T)
c.1409G>T (p.Ser470Ile)
22g.43946358T>ACA411848107PNPLA3c.1422T>A (p.Ser474Arg)
c.*849+1563T>A (n.*849+1563T>A)
c.1410T>A (p.Ser470Arg)
22g.43946358T>CCA515083172PNPLA3c.1422T>C (p.Ser474=)
c.*849+1563T>C (n.*849+1563T>C)
c.1410T>C (p.Ser470=)
dbSNP
22g.43946358T>GCA411848109PNPLA3c.1422T>G (p.Ser474Arg)
c.*849+1563T>G (n.*849+1563T>G)
c.1410T>G (p.Ser470Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.43946358T=CA2407489725PNPLA3c.1422T= (p.Ser474=)
c.*849+1563T= (n.*849+1563T=)
c.1410T= (p.Ser470=)
22g.43946358_43946359insCCA2657154796PNPLA3c.1422_1423insC (p.Phe475LeufsTer16)
c.*849+1563_*849+1564insC (n.*849+1563_*849+1564insC)
c.1410_1411insC (p.Phe471LeufsTer16)
gnomAD v4
22g.43946359T>ACA411848118PNPLA3c.1423T>A (p.Phe475Ile)
c.*849+1564T>A (n.*849+1564T>A)
c.1411T>A (p.Phe471Ile)
22g.43946359T>CCA411848113PNPLA3c.1423T>C (p.Phe475Leu)
c.*849+1564T>C (n.*849+1564T>C)
c.1411T>C (p.Phe471Leu)
22g.43946359T>GCA411848111PNPLA3c.1423T>G (p.Phe475Val)
c.*849+1564T>G (n.*849+1564T>G)
c.1411T>G (p.Phe471Val)
22g.43946360T>ACA411848120PNPLA3c.1424T>A (p.Phe475Tyr)
c.*849+1565T>A (n.*849+1565T>A)
c.1412T>A (p.Phe471Tyr)
22g.43946360T>CCA411848129PNPLA3c.1424T>C (p.Phe475Ser)
c.*849+1565T>C (n.*849+1565T>C)
c.1412T>C (p.Phe471Ser)
gnomAD v4
22g.43946360T>GCA411848127PNPLA3c.1424T>G (p.Phe475Cys)
c.*849+1565T>G (n.*849+1565T>G)
c.1412T>G (p.Phe471Cys)
22g.43946361T>ACA411848131PNPLA3c.1425T>A (p.Phe475Leu)
c.*849+1566T>A (n.*849+1566T>A)
c.1413T>A (p.Phe471Leu)
22g.43946361T>CCA515083184PNPLA3c.1425T>C (p.Phe475=)
c.*849+1566T>C (n.*849+1566T>C)
c.1413T>C (p.Phe471=)
22g.43946361T>GCA411848132PNPLA3c.1425T>G (p.Phe475Leu)
c.*849+1566T>G (n.*849+1566T>G)
c.1413T>G (p.Phe471Leu)
22g.43946362T>ACA411848134PNPLA3c.1426T>A (p.Ser476Thr)
c.*849+1567T>A (n.*849+1567T>A)
c.1414T>A (p.Ser472Thr)
22g.43946362T>CCA411848137PNPLA3c.1426T>C (p.Ser476Pro)
c.*849+1567T>C (n.*849+1567T>C)
c.1414T>C (p.Ser472Pro)
22g.43946362T>GCA10278279PNPLA3c.1426T>G (p.Ser476Ala)
c.*849+1567T>G (n.*849+1567T>G)
c.1414T>G (p.Ser472Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.43946362T=CA2407489726PNPLA3c.1426T= (p.Ser476=)
c.*849+1567T= (n.*849+1567T=)
c.1414T= (p.Ser472=)
22g.43946363C>ACA411848139PNPLA3c.1427C>A (p.Ser476Ter)
c.*849+1568C>A (n.*849+1568C>A)
c.1415C>A (p.Ser472Ter)
22g.43946363C>GCA411848142PNPLA3c.1427C>G (p.Ser476Ter)
c.*849+1568C>G (n.*849+1568C>G)
c.1415C>G (p.Ser472Ter)
22g.43946363C>TCA411848140PNPLA3c.1427C>T (p.Ser476Leu)
c.*849+1568C>T (n.*849+1568C>T)
c.1415C>T (p.Ser472Leu)
22g.43946363_43946364insCCCA2657154797PNPLA3c.1427_1428insCC (p.Leu477HisfsTer2)
c.*849+1568_*849+1569insCC (n.*849+1568_*849+1569insCC)
c.1415_1416insCC (p.Leu473HisfsTer2)
gnomAD v4
22g.43946364A=CA2407489727PNPLA3c.1428A= (p.Ser476=)
c.*849+1569A= (n.*849+1569A=)
c.1416A= (p.Ser472=)
22g.43946364A>CCA515083207PNPLA3c.1428A>C (p.Ser476=)
c.*849+1569A>C (n.*849+1569A>C)
c.1416A>C (p.Ser472=)
22g.43946364A>GCA515083210PNPLA3c.1428A>G (p.Ser476=)
c.*849+1569A>G (n.*849+1569A>G)
c.1416A>G (p.Ser472=)
22g.43946364A>TCA515083214PNPLA3c.1428A>T (p.Ser476=)
c.*849+1569A>T (n.*849+1569A>T)
c.1416A>T (p.Ser472=)
dbSNP gnomAD v2 gnomAD v4
22g.43946365C>ACA411848144PNPLA3c.1429C>A (p.Leu477Ile)
c.*849+1570C>A (n.*849+1570C>A)
c.1417C>A (p.Leu473Ile)
22g.43946365C>GCA411848145PNPLA3c.1429C>G (p.Leu477Val)
c.*849+1570C>G (n.*849+1570C>G)
c.1417C>G (p.Leu473Val)
22g.43946365C>TCA515083217PNPLA3c.1429C>T (p.Leu477=)
c.*849+1570C>T (n.*849+1570C>T)
c.1417C>T (p.Leu473=)
22g.43946366T>ACA411848147PNPLA3c.1430T>A (p.Leu477Gln)
c.*849+1571T>A (n.*849+1571T>A)
c.1418T>A (p.Leu473Gln)
22g.43946366T>CCA411848150PNPLA3c.1430T>C (p.Leu477Pro)
c.*849+1571T>C (n.*849+1571T>C)
c.1418T>C (p.Leu473Pro)
22g.43946366T>GCA411848148PNPLA3c.1430T>G (p.Leu477Arg)
c.*849+1571T>G (n.*849+1571T>G)
c.1418T>G (p.Leu473Arg)
22g.43946367A=CA2407489728PNPLA3c.1431A= (p.Leu477=)
c.*849+1572A= (n.*849+1572A=)
c.1419A= (p.Leu473=)
22g.43946367A>CCA515083226PNPLA3c.1431A>C (p.Leu477=)
c.*849+1572A>C (n.*849+1572A>C)
c.1419A>C (p.Leu473=)
22g.43946367A>GCA515083228PNPLA3c.1431A>G (p.Leu477=)
c.*849+1572A>G (n.*849+1572A>G)
c.1419A>G (p.Leu473=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.43946367A>TCA515083224PNPLA3c.1431A>T (p.Leu477=)
c.*849+1572A>T (n.*849+1572A>T)
c.1419A>T (p.Leu473=)
22g.43946371_43946375delCA2819114888PNPLA3c.1435_1439del (p.Lys479SerfsTer10)
c.*849+1576_*849+1580del (n.*849+1576_*849+1580del)
c.1423_1427del (p.Lys475SerfsTer10)
22g.43946368G>ACA324869420PNPLA3c.1432G>A (p.Glu478Lys)
c.*849+1573G>A (n.*849+1573G>A)
c.1420G>A (p.Glu474Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.43946368G>CCA411848152PNPLA3c.1432G>C (p.Glu478Gln)
c.*849+1573G>C (n.*849+1573G>C)
c.1420G>C (p.Glu474Gln)
gnomAD v4
22g.43946368G=CA2407489729PNPLA3c.1432G= (p.Glu478=)
c.*849+1573G= (n.*849+1573G=)
c.1420G= (p.Glu474=)
22g.43946368G>TCA411848154PNPLA3c.1432G>T (p.Glu478Ter)
c.*849+1573G>T (n.*849+1573G>T)
c.1420G>T (p.Glu474Ter)
22g.43946369A=CA2407489730PNPLA3c.1433A= (p.Glu478=)
c.*849+1574A= (n.*849+1574A=)
c.1421A= (p.Glu474=)
22g.43946369A>CCA411848155PNPLA3c.1433A>C (p.Glu478Ala)
c.*849+1574A>C (n.*849+1574A>C)
c.1421A>C (p.Glu474Ala)
22g.43946369A>GCA411848156PNPLA3c.1433A>G (p.Glu478Gly)
c.*849+1574A>G (n.*849+1574A>G)
c.1421A>G (p.Glu474Gly)
dbSNP gnomAD v3 gnomAD v4
22g.43946369A>TCA411848158PNPLA3c.1433A>T (p.Glu478Val)
c.*849+1574A>T (n.*849+1574A>T)
c.1421A>T (p.Glu474Val)
22g.43946370G>ACA10278280PNPLA3c.1434G>A (p.Glu478=)
c.*849+1575G>A (n.*849+1575G>A)
c.1422G>A (p.Glu474=)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.43946370G>CCA411848160PNPLA3c.1434G>C (p.Glu478Asp)
c.*849+1575G>C (n.*849+1575G>C)
c.1422G>C (p.Glu474Asp)
22g.43946370G=CA2407489731PNPLA3c.1434G= (p.Glu478=)
c.*849+1575G= (n.*849+1575G=)
c.1422G= (p.Glu474=)
22g.43946370G>TCA411848162PNPLA3c.1434G>T (p.Glu478Asp)
c.*849+1575G>T (n.*849+1575G>T)
c.1422G>T (p.Glu474Asp)
22g.43946371A=CA2407489732PNPLA3c.1435A= (p.Lys479=)
c.*849+1576A= (n.*849+1576A=)
c.1423A= (p.Lys475=)
22g.43946371A>CCA411848164PNPLA3c.1435A>C (p.Lys479Gln)
c.*849+1576A>C (n.*849+1576A>C)
c.1423A>C (p.Lys475Gln)
22g.43946371A>GCA411848165PNPLA3c.1435A>G (p.Lys479Glu)
c.*849+1576A>G (n.*849+1576A>G)
c.1423A>G (p.Lys475Glu)
gnomAD v4
22g.43946371A>TCA411848167PNPLA3c.1435A>T (p.Lys479Ter)
c.*849+1576A>T (n.*849+1576A>T)
c.1423A>T (p.Lys475Ter)
dbSNP
22g.43946372A>CCA411848168PNPLA3c.1436A>C (p.Lys479Thr)
c.*849+1577A>C (n.*849+1577A>C)
c.1424A>C (p.Lys475Thr)
22g.43946372A>GCA411848172PNPLA3c.1436A>G (p.Lys479Arg)
c.*849+1577A>G (n.*849+1577A>G)
c.1424A>G (p.Lys475Arg)
22g.43946372A>TCA411848170PNPLA3c.1436A>T (p.Lys479Met)
c.*849+1577A>T (n.*849+1577A>T)
c.1424A>T (p.Lys475Met)
22g.43946373G>ACA515083253PNPLA3c.1437G>A (p.Lys479=)
c.*849+1578G>A (n.*849+1578G>A)
c.1425G>A (p.Lys475=)
COSMIC
22g.43946373G>CCA411848174PNPLA3c.1437G>C (p.Lys479Asn)
c.*849+1578G>C (n.*849+1578G>C)
c.1425G>C (p.Lys475Asn)
22g.43946373G=CA2407489733PNPLA3c.1437G= (p.Lys479=)
c.*849+1578G= (n.*849+1578G=)
c.1425G= (p.Lys475=)
22g.43946373G>TCA411848175PNPLA3c.1437G>T (p.Lys479Asn)
c.*849+1578G>T (n.*849+1578G>T)
c.1425G>T (p.Lys475Asn)
dbSNP
22g.43946374A>CCA411848177PNPLA3c.1438A>C (p.Ser480Arg)
c.*849+1579A>C (n.*849+1579A>C)
c.1426A>C (p.Ser476Arg)
gnomAD v4
22g.43946374A>GCA411848178PNPLA3c.1438A>G (p.Ser480Gly)
c.*849+1579A>G (n.*849+1579A>G)
c.1426A>G (p.Ser476Gly)
gnomAD v4
22g.43946374A>TCA411848180PNPLA3c.1438A>T (p.Ser480Cys)
c.*849+1579A>T (n.*849+1579A>T)
c.1426A>T (p.Ser476Cys)
22g.43946375G>ACA10278281PNPLA3c.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
22g.43946375G>CCA411848181PNPLA3c.1439G>C (p.Ser480Thr)
c.*849+1580G>C (n.*849+1580G>C)
c.1427G>C (p.Ser476Thr)
22g.43946375G=CA2407489734PNPLA3c.1439G= (p.Ser480=)
c.*849+1580G= (n.*849+1580G=)
c.1427G= (p.Ser476=)
22g.43946375G>TCA411848183PNPLA3c.1439G>T (p.Ser480Ile)
c.*849+1580G>T (n.*849+1580G>T)
c.1427G>T (p.Ser476Ile)
dbSNP gnomAD v4
22g.43946376T>ACA411848185PNPLA3c.1440T>A (p.Ser480Arg)
c.*849+1581T>A (n.*849+1581T>A)
c.1428T>A (p.Ser476Arg)
22g.43946376T>CCA515083266PNPLA3c.1440T>C (p.Ser480=)
c.*849+1581T>C (n.*849+1581T>C)
c.1428T>C (p.Ser476=)
22g.43946376T>GCA411848187PNPLA3c.1440T>G (p.Ser480Arg)
c.*849+1581T>G (n.*849+1581T>G)
c.1428T>G (p.Ser476Arg)
dbSNP
22g.43946376T=CA2407489735PNPLA3c.1440T= (p.Ser480=)
c.*849+1581T= (n.*849+1581T=)
c.1428T= (p.Ser476=)
22g.43946377C>ACA411848190PNPLA3c.1441C>A (p.Leu481Met)
c.*849+1582C>A (n.*849+1582C>A)
c.1429C>A (p.Leu477Met)
COSMIC
22g.43946377C>GCA411848188PNPLA3c.1441C>G (p.Leu481Val)
c.*849+1582C>G (n.*849+1582C>G)
c.1429C>G (p.Leu477Val)
22g.43946377C>TCA515083272PNPLA3c.1441C>T (p.Leu481=)
c.*849+1582C>T (n.*849+1582C>T)
c.1429C>T (p.Leu477=)
22g.43946377_43946379delinsCTGCA2407489736PNPLA3c.1441_1443delinsCTG (p.Leu481=)
c.*849+1582_*849+1584delinsCTG (n.*849+1582_*849+1584delinsCTG)
c.1429_1431delinsCTG (p.Leu477=)
22g.43946378T>ACA411848192PNPLA3c.1442T>A (p.Leu481Gln)
c.*849+1583T>A (n.*849+1583T>A)
c.1430T>A (p.Leu477Gln)
22g.43946378T>CCA411848194PNPLA3c.1442T>C (p.Leu481Pro)
c.*849+1583T>C (n.*849+1583T>C)
c.1430T>C (p.Leu477Pro)
22g.43946378T>GCA411848195PNPLA3c.1442T>G (p.Leu481Arg)
c.*849+1583T>G (n.*849+1583T>G)
c.1430T>G (p.Leu477Arg)
22g.43946380_43946381delCA10278282PNPLA3c.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
22g.43946379G>ACA515083284PNPLA3c.1443G>A (p.Leu481=)
c.*849+1584G>A (n.*849+1584G>A)
c.1431G>A (p.Leu477=)
gnomAD v4
22g.43946379G>CCA515083286PNPLA3c.1443G>C (p.Leu481=)
c.*849+1584G>C (n.*849+1584G>C)
c.1431G>C (p.Leu477=)
22g.43946379G=CA2407489737PNPLA3c.1443G= (p.Leu481=)
c.*849+1584G= (n.*849+1584G=)
c.1431G= (p.Leu477=)
22g.43946379G>TCA515083288PNPLA3c.1443G>T (p.Leu481=)
c.*849+1584G>T (n.*849+1584G>T)
c.1431G>T (p.Leu477=)
dbSNP gnomAD v3 gnomAD v4
22g.43946380T>ACA411848198PNPLA3c.1444T>A (p.Ter482Arg)
c.*849+1585T>A (n.*849+1585T>A)
c.1432T>A (p.Ter478Arg)
22g.43946380T>CCA411848199PNPLA3c.1444T>C (p.Ter482Arg)
c.*849+1585T>C (n.*849+1585T>C)
c.1432T>C (p.Ter478Arg)
22g.43946380T>GCA411848201PNPLA3c.1444T>G (p.Ter482Gly)
c.*849+1585T>G (n.*849+1585T>G)
c.1432T>G (p.Ter478Gly)
22g.43946381G>ACA515083296PNPLA3c.1445G>A (p.Ter482=)
c.*849+1586G>A (n.*849+1586G>A)
c.1433G>A (p.Ter478=)
22g.43946381G>CCA411848202PNPLA3c.1445G>C (p.Ter482Ser)
c.*849+1586G>C (n.*849+1586G>C)
c.1433G>C (p.Ter478Ser)
22g.43946381G>TCA411848204PNPLA3c.1445G>T (p.Ter482Leu)
c.*849+1586G>T (n.*849+1586G>T)
c.1433G>T (p.Ter478Leu)
22g.43946382A>CCA411848207PNPLA3c.1446A>C (p.Ter482Cys)
c.*849+1587A>C (n.*849+1587A>C)
c.1434A>C (p.Ter478Cys)
22g.43946382A>GCA411848208PNPLA3c.1446A>G (p.Ter482Trp)
c.*849+1587A>G (n.*849+1587A>G)
c.1434A>G (p.Ter478Trp)
22g.43946382A>TCA411848210PNPLA3c.1446A>T (p.Ter482Cys)
c.*849+1587A>T (n.*849+1587A>T)
c.1434A>T (p.Ter478Cys)
22g.43946383G>ACA2657154798PNPLA3c.*1G>A (n.*1G>A)
c.*849+1588G>A (n.*849+1588G>A)
gnomAD v4
22g.43946383G>CCA2577772142PNPLA3c.*1G>C (n.*1G>C)
c.*849+1588G>C (n.*849+1588G>C)

Number of alleles fetched