Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.43946347A>C | CA411848064 | PNPLA3 | c.1411A>C (p.Thr471Pro) c.*849+1552A>C (n.*849+1552A>C) c.1399A>C (p.Thr467Pro) | |
22 | g.43946347A>G | CA411848068 | PNPLA3 | c.1411A>G (p.Thr471Ala) c.*849+1552A>G (n.*849+1552A>G) c.1399A>G (p.Thr467Ala) | |
22 | g.43946347A>T | CA411848066 | PNPLA3 | c.1411A>T (p.Thr471Ser) c.*849+1552A>T (n.*849+1552A>T) c.1399A>T (p.Thr467Ser) | |
22 | g.43946348C>A | CA411848069 | PNPLA3 | c.1412C>A (p.Thr471Asn) c.*849+1553C>A (n.*849+1553C>A) c.1400C>A (p.Thr467Asn) | |
22 | g.43946348C>G | CA411848071 | PNPLA3 | c.1412C>G (p.Thr471Ser) c.*849+1553C>G (n.*849+1553C>G) c.1400C>G (p.Thr467Ser) | |
22 | g.43946348C>T | CA411848072 | PNPLA3 | c.1412C>T (p.Thr471Ile) c.*849+1553C>T (n.*849+1553C>T) c.1400C>T (p.Thr467Ile) | gnomAD v4 |
22 | g.43946349C>A | CA515083121 | PNPLA3 | c.1413C>A (p.Thr471=) c.*849+1554C>A (n.*849+1554C>A) c.1401C>A (p.Thr467=) | gnomAD v4 |
22 | g.43946349C>G | CA515083122 | PNPLA3 | c.1413C>G (p.Thr471=) c.*849+1554C>G (n.*849+1554C>G) c.1401C>G (p.Thr467=) | |
22 | g.43946349C>T | CA515083123 | PNPLA3 | c.1413C>T (p.Thr471=) c.*849+1554C>T (n.*849+1554C>T) c.1401C>T (p.Thr467=) | gnomAD v3 gnomAD v4 |
22 | g.43946350T>A | CA411848075 | PNPLA3 | c.1414T>A (p.Phe472Ile) c.*849+1555T>A (n.*849+1555T>A) c.1402T>A (p.Phe468Ile) | |
22 | g.43946350T>C | CA411848076 | PNPLA3 | c.1414T>C (p.Phe472Leu) c.*849+1555T>C (n.*849+1555T>C) c.1402T>C (p.Phe468Leu) | |
22 | g.43946350T>G | CA411848078 | PNPLA3 | c.1414T>G (p.Phe472Val) c.*849+1555T>G (n.*849+1555T>G) c.1402T>G (p.Phe468Val) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.43946350T= | CA2407489722 | PNPLA3 | c.1414T= (p.Phe472=) c.*849+1555T= (n.*849+1555T=) c.1402T= (p.Phe468=) | |
22 | g.43946351T>A | CA411848080 | PNPLA3 | c.1415T>A (p.Phe472Tyr) c.*849+1556T>A (n.*849+1556T>A) c.1403T>A (p.Phe468Tyr) | |
22 | g.43946351T>C | CA411848081 | PNPLA3 | c.1415T>C (p.Phe472Ser) c.*849+1556T>C (n.*849+1556T>C) c.1403T>C (p.Phe468Ser) | |
22 | g.43946351T>G | CA411848083 | PNPLA3 | c.1415T>G (p.Phe472Cys) c.*849+1556T>G (n.*849+1556T>G) c.1403T>G (p.Phe468Cys) | |
22 | g.43946352T>A | CA411848085 | PNPLA3 | c.1416T>A (p.Phe472Leu) c.*849+1557T>A (n.*849+1557T>A) c.1404T>A (p.Phe468Leu) | |
22 | g.43946352T>C | CA515083137 | PNPLA3 | c.1416T>C (p.Phe472=) c.*849+1557T>C (n.*849+1557T>C) c.1404T>C (p.Phe468=) | |
22 | g.43946352T>G | CA411848087 | PNPLA3 | c.1416T>G (p.Phe472Leu) c.*849+1557T>G (n.*849+1557T>G) c.1404T>G (p.Phe468Leu) | |
22 | g.43946353C>A | CA411848090 | PNPLA3 | c.1417C>A (p.Pro473Thr) c.*849+1558C>A (n.*849+1558C>A) c.1405C>A (p.Pro469Thr) | |
22 | g.43946353C>G | CA411848089 | PNPLA3 | c.1417C>G (p.Pro473Ala) c.*849+1558C>G (n.*849+1558C>G) c.1405C>G (p.Pro469Ala) | |
22 | g.43946353C>T | CA411848088 | PNPLA3 | c.1417C>T (p.Pro473Ser) c.*849+1558C>T (n.*849+1558C>T) c.1405C>T (p.Pro469Ser) | COSMIC |
22 | g.43946354C>A | CA411848092 | PNPLA3 | c.1418C>A (p.Pro473His) c.*849+1559C>A (n.*849+1559C>A) c.1406C>A (p.Pro469His) | |
22 | g.43946354C= | CA2407489723 | PNPLA3 | c.1418C= (p.Pro473=) c.*849+1559C= (n.*849+1559C=) c.1406C= (p.Pro469=) | |
22 | g.43946354C>G | CA411848094 | PNPLA3 | c.1418C>G (p.Pro473Arg) c.*849+1559C>G (n.*849+1559C>G) c.1406C>G (p.Pro469Arg) | |
22 | g.43946354C>T | CA10278277 | PNPLA3 | c.1418C>T (p.Pro473Leu) c.*849+1559C>T (n.*849+1559C>T) c.1406C>T (p.Pro469Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946355C>A | CA515083153 | PNPLA3 | c.1419C>A (p.Pro473=) c.*849+1560C>A (n.*849+1560C>A) c.1407C>A (p.Pro469=) | |
22 | g.43946355C= | CA2407489724 | PNPLA3 | c.1419C= (p.Pro473=) c.*849+1560C= (n.*849+1560C=) c.1407C= (p.Pro469=) | |
22 | g.43946355C>G | CA515083156 | PNPLA3 | c.1419C>G (p.Pro473=) c.*849+1560C>G (n.*849+1560C>G) c.1407C>G (p.Pro469=) | COSMIC |
22 | g.43946355C>T | CA10278278 | PNPLA3 | c.1419C>T (p.Pro473=) c.*849+1560C>T (n.*849+1560C>T) c.1407C>T (p.Pro469=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946356A>C | CA411848100 | PNPLA3 | c.1420A>C (p.Ser474Arg) c.*849+1561A>C (n.*849+1561A>C) c.1408A>C (p.Ser470Arg) | |
22 | g.43946356A>G | CA411848101 | PNPLA3 | c.1420A>G (p.Ser474Gly) c.*849+1561A>G (n.*849+1561A>G) c.1408A>G (p.Ser470Gly) | |
22 | g.43946356A>T | CA411848103 | PNPLA3 | c.1420A>T (p.Ser474Cys) c.*849+1561A>T (n.*849+1561A>T) c.1408A>T (p.Ser470Cys) | |
22 | g.43946356_43946357insCTAGAGAAGA | CA2657154795 | PNPLA3 | c.1420_1421insCTAGAGAAGA (p.Ser474ThrfsTer20) c.*849+1561_*849+1562insCTAGAGAAGA (n.*849+1561_*849+1562insCTAGAGAAGA) c.1408_1409insCTAGAGAAGA (p.Ser470ThrfsTer20) | gnomAD v4 |
22 | g.43946357G>A | CA411848104 | PNPLA3 | c.1421G>A (p.Ser474Asn) c.*849+1562G>A (n.*849+1562G>A) c.1409G>A (p.Ser470Asn) | |
22 | g.43946357G>C | CA411848105 | PNPLA3 | c.1421G>C (p.Ser474Thr) c.*849+1562G>C (n.*849+1562G>C) c.1409G>C (p.Ser470Thr) | gnomAD v4 |
22 | g.43946357G>T | CA411848106 | PNPLA3 | c.1421G>T (p.Ser474Ile) c.*849+1562G>T (n.*849+1562G>T) c.1409G>T (p.Ser470Ile) | |
22 | g.43946358T>A | CA411848107 | PNPLA3 | c.1422T>A (p.Ser474Arg) c.*849+1563T>A (n.*849+1563T>A) c.1410T>A (p.Ser470Arg) | |
22 | g.43946358T>C | CA515083172 | PNPLA3 | c.1422T>C (p.Ser474=) c.*849+1563T>C (n.*849+1563T>C) c.1410T>C (p.Ser470=) | dbSNP |
22 | g.43946358T>G | CA411848109 | PNPLA3 | c.1422T>G (p.Ser474Arg) c.*849+1563T>G (n.*849+1563T>G) c.1410T>G (p.Ser470Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946358T= | CA2407489725 | PNPLA3 | c.1422T= (p.Ser474=) c.*849+1563T= (n.*849+1563T=) c.1410T= (p.Ser470=) | |
22 | g.43946358_43946359insC | CA2657154796 | PNPLA3 | c.1422_1423insC (p.Phe475LeufsTer16) c.*849+1563_*849+1564insC (n.*849+1563_*849+1564insC) c.1410_1411insC (p.Phe471LeufsTer16) | gnomAD v4 |
22 | g.43946359T>A | CA411848118 | PNPLA3 | c.1423T>A (p.Phe475Ile) c.*849+1564T>A (n.*849+1564T>A) c.1411T>A (p.Phe471Ile) | |
22 | g.43946359T>C | CA411848113 | PNPLA3 | c.1423T>C (p.Phe475Leu) c.*849+1564T>C (n.*849+1564T>C) c.1411T>C (p.Phe471Leu) | |
22 | g.43946359T>G | CA411848111 | PNPLA3 | c.1423T>G (p.Phe475Val) c.*849+1564T>G (n.*849+1564T>G) c.1411T>G (p.Phe471Val) | |
22 | g.43946360T>A | CA411848120 | PNPLA3 | c.1424T>A (p.Phe475Tyr) c.*849+1565T>A (n.*849+1565T>A) c.1412T>A (p.Phe471Tyr) | |
22 | g.43946360T>C | CA411848129 | PNPLA3 | c.1424T>C (p.Phe475Ser) c.*849+1565T>C (n.*849+1565T>C) c.1412T>C (p.Phe471Ser) | gnomAD v4 |
22 | g.43946360T>G | CA411848127 | PNPLA3 | c.1424T>G (p.Phe475Cys) c.*849+1565T>G (n.*849+1565T>G) c.1412T>G (p.Phe471Cys) | |
22 | g.43946361T>A | CA411848131 | PNPLA3 | c.1425T>A (p.Phe475Leu) c.*849+1566T>A (n.*849+1566T>A) c.1413T>A (p.Phe471Leu) | |
22 | g.43946361T>C | CA515083184 | PNPLA3 | c.1425T>C (p.Phe475=) c.*849+1566T>C (n.*849+1566T>C) c.1413T>C (p.Phe471=) | |
22 | g.43946361T>G | CA411848132 | PNPLA3 | c.1425T>G (p.Phe475Leu) c.*849+1566T>G (n.*849+1566T>G) c.1413T>G (p.Phe471Leu) | |
22 | g.43946362T>A | CA411848134 | PNPLA3 | c.1426T>A (p.Ser476Thr) c.*849+1567T>A (n.*849+1567T>A) c.1414T>A (p.Ser472Thr) | |
22 | g.43946362T>C | CA411848137 | PNPLA3 | c.1426T>C (p.Ser476Pro) c.*849+1567T>C (n.*849+1567T>C) c.1414T>C (p.Ser472Pro) | |
22 | g.43946362T>G | CA10278279 | PNPLA3 | c.1426T>G (p.Ser476Ala) c.*849+1567T>G (n.*849+1567T>G) c.1414T>G (p.Ser472Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.43946362T= | CA2407489726 | PNPLA3 | c.1426T= (p.Ser476=) c.*849+1567T= (n.*849+1567T=) c.1414T= (p.Ser472=) | |
22 | g.43946363C>A | CA411848139 | PNPLA3 | c.1427C>A (p.Ser476Ter) c.*849+1568C>A (n.*849+1568C>A) c.1415C>A (p.Ser472Ter) | |
22 | g.43946363C>G | CA411848142 | PNPLA3 | c.1427C>G (p.Ser476Ter) c.*849+1568C>G (n.*849+1568C>G) c.1415C>G (p.Ser472Ter) | |
22 | g.43946363C>T | CA411848140 | PNPLA3 | c.1427C>T (p.Ser476Leu) c.*849+1568C>T (n.*849+1568C>T) c.1415C>T (p.Ser472Leu) | |
22 | g.43946363_43946364insCC | CA2657154797 | PNPLA3 | c.1427_1428insCC (p.Leu477HisfsTer2) c.*849+1568_*849+1569insCC (n.*849+1568_*849+1569insCC) c.1415_1416insCC (p.Leu473HisfsTer2) | gnomAD v4 |
22 | g.43946364A= | CA2407489727 | PNPLA3 | c.1428A= (p.Ser476=) c.*849+1569A= (n.*849+1569A=) c.1416A= (p.Ser472=) | |
22 | g.43946364A>C | CA515083207 | PNPLA3 | c.1428A>C (p.Ser476=) c.*849+1569A>C (n.*849+1569A>C) c.1416A>C (p.Ser472=) | |
22 | g.43946364A>G | CA515083210 | PNPLA3 | c.1428A>G (p.Ser476=) c.*849+1569A>G (n.*849+1569A>G) c.1416A>G (p.Ser472=) | |
22 | g.43946364A>T | CA515083214 | PNPLA3 | c.1428A>T (p.Ser476=) c.*849+1569A>T (n.*849+1569A>T) c.1416A>T (p.Ser472=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.43946365C>A | CA411848144 | PNPLA3 | c.1429C>A (p.Leu477Ile) c.*849+1570C>A (n.*849+1570C>A) c.1417C>A (p.Leu473Ile) | |
22 | g.43946365C>G | CA411848145 | PNPLA3 | c.1429C>G (p.Leu477Val) c.*849+1570C>G (n.*849+1570C>G) c.1417C>G (p.Leu473Val) | |
22 | g.43946365C>T | CA515083217 | PNPLA3 | c.1429C>T (p.Leu477=) c.*849+1570C>T (n.*849+1570C>T) c.1417C>T (p.Leu473=) | |
22 | g.43946366T>A | CA411848147 | PNPLA3 | c.1430T>A (p.Leu477Gln) c.*849+1571T>A (n.*849+1571T>A) c.1418T>A (p.Leu473Gln) | |
22 | g.43946366T>C | CA411848150 | PNPLA3 | c.1430T>C (p.Leu477Pro) c.*849+1571T>C (n.*849+1571T>C) c.1418T>C (p.Leu473Pro) | |
22 | g.43946366T>G | CA411848148 | PNPLA3 | c.1430T>G (p.Leu477Arg) c.*849+1571T>G (n.*849+1571T>G) c.1418T>G (p.Leu473Arg) | |
22 | g.43946367A= | CA2407489728 | PNPLA3 | c.1431A= (p.Leu477=) c.*849+1572A= (n.*849+1572A=) c.1419A= (p.Leu473=) | |
22 | g.43946367A>C | CA515083226 | PNPLA3 | c.1431A>C (p.Leu477=) c.*849+1572A>C (n.*849+1572A>C) c.1419A>C (p.Leu473=) | |
22 | g.43946367A>G | CA515083228 | PNPLA3 | c.1431A>G (p.Leu477=) c.*849+1572A>G (n.*849+1572A>G) c.1419A>G (p.Leu473=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946367A>T | CA515083224 | PNPLA3 | c.1431A>T (p.Leu477=) c.*849+1572A>T (n.*849+1572A>T) c.1419A>T (p.Leu473=) | |
22 | g.43946371_43946375del | CA2819114888 | PNPLA3 | c.1435_1439del (p.Lys479SerfsTer10) c.*849+1576_*849+1580del (n.*849+1576_*849+1580del) c.1423_1427del (p.Lys475SerfsTer10) | |
22 | g.43946368G>A | CA324869420 | PNPLA3 | c.1432G>A (p.Glu478Lys) c.*849+1573G>A (n.*849+1573G>A) c.1420G>A (p.Glu474Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946368G>C | CA411848152 | PNPLA3 | c.1432G>C (p.Glu478Gln) c.*849+1573G>C (n.*849+1573G>C) c.1420G>C (p.Glu474Gln) | gnomAD v4 |
22 | g.43946368G= | CA2407489729 | PNPLA3 | c.1432G= (p.Glu478=) c.*849+1573G= (n.*849+1573G=) c.1420G= (p.Glu474=) | |
22 | g.43946368G>T | CA411848154 | PNPLA3 | c.1432G>T (p.Glu478Ter) c.*849+1573G>T (n.*849+1573G>T) c.1420G>T (p.Glu474Ter) | |
22 | g.43946369A= | CA2407489730 | PNPLA3 | c.1433A= (p.Glu478=) c.*849+1574A= (n.*849+1574A=) c.1421A= (p.Glu474=) | |
22 | g.43946369A>C | CA411848155 | PNPLA3 | c.1433A>C (p.Glu478Ala) c.*849+1574A>C (n.*849+1574A>C) c.1421A>C (p.Glu474Ala) | |
22 | g.43946369A>G | CA411848156 | PNPLA3 | c.1433A>G (p.Glu478Gly) c.*849+1574A>G (n.*849+1574A>G) c.1421A>G (p.Glu474Gly) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.43946369A>T | CA411848158 | PNPLA3 | c.1433A>T (p.Glu478Val) c.*849+1574A>T (n.*849+1574A>T) c.1421A>T (p.Glu474Val) | |
22 | g.43946370G>A | CA10278280 | PNPLA3 | c.1434G>A (p.Glu478=) c.*849+1575G>A (n.*849+1575G>A) c.1422G>A (p.Glu474=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.43946370G>C | CA411848160 | PNPLA3 | c.1434G>C (p.Glu478Asp) c.*849+1575G>C (n.*849+1575G>C) c.1422G>C (p.Glu474Asp) | |
22 | g.43946370G= | CA2407489731 | PNPLA3 | c.1434G= (p.Glu478=) c.*849+1575G= (n.*849+1575G=) c.1422G= (p.Glu474=) | |
22 | g.43946370G>T | CA411848162 | PNPLA3 | c.1434G>T (p.Glu478Asp) c.*849+1575G>T (n.*849+1575G>T) c.1422G>T (p.Glu474Asp) | |
22 | g.43946371A= | CA2407489732 | PNPLA3 | c.1435A= (p.Lys479=) c.*849+1576A= (n.*849+1576A=) c.1423A= (p.Lys475=) | |
22 | g.43946371A>C | CA411848164 | PNPLA3 | c.1435A>C (p.Lys479Gln) c.*849+1576A>C (n.*849+1576A>C) c.1423A>C (p.Lys475Gln) | |
22 | g.43946371A>G | CA411848165 | PNPLA3 | c.1435A>G (p.Lys479Glu) c.*849+1576A>G (n.*849+1576A>G) c.1423A>G (p.Lys475Glu) | gnomAD v4 |
22 | g.43946371A>T | CA411848167 | PNPLA3 | c.1435A>T (p.Lys479Ter) c.*849+1576A>T (n.*849+1576A>T) c.1423A>T (p.Lys475Ter) | dbSNP |
22 | g.43946372A>C | CA411848168 | PNPLA3 | c.1436A>C (p.Lys479Thr) c.*849+1577A>C (n.*849+1577A>C) c.1424A>C (p.Lys475Thr) | |
22 | g.43946372A>G | CA411848172 | PNPLA3 | c.1436A>G (p.Lys479Arg) c.*849+1577A>G (n.*849+1577A>G) c.1424A>G (p.Lys475Arg) | |
22 | g.43946372A>T | CA411848170 | PNPLA3 | c.1436A>T (p.Lys479Met) c.*849+1577A>T (n.*849+1577A>T) c.1424A>T (p.Lys475Met) | |
22 | g.43946373G>A | CA515083253 | PNPLA3 | c.1437G>A (p.Lys479=) c.*849+1578G>A (n.*849+1578G>A) c.1425G>A (p.Lys475=) | COSMIC |
22 | g.43946373G>C | CA411848174 | PNPLA3 | c.1437G>C (p.Lys479Asn) c.*849+1578G>C (n.*849+1578G>C) c.1425G>C (p.Lys475Asn) | |
22 | g.43946373G= | CA2407489733 | PNPLA3 | c.1437G= (p.Lys479=) c.*849+1578G= (n.*849+1578G=) c.1425G= (p.Lys475=) | |
22 | g.43946373G>T | CA411848175 | PNPLA3 | c.1437G>T (p.Lys479Asn) c.*849+1578G>T (n.*849+1578G>T) c.1425G>T (p.Lys475Asn) | dbSNP |
22 | g.43946374A>C | CA411848177 | PNPLA3 | c.1438A>C (p.Ser480Arg) c.*849+1579A>C (n.*849+1579A>C) c.1426A>C (p.Ser476Arg) | gnomAD v4 |
22 | g.43946374A>G | CA411848178 | PNPLA3 | c.1438A>G (p.Ser480Gly) c.*849+1579A>G (n.*849+1579A>G) c.1426A>G (p.Ser476Gly) | gnomAD v4 |
22 | g.43946374A>T | CA411848180 | PNPLA3 | c.1438A>T (p.Ser480Cys) c.*849+1579A>T (n.*849+1579A>T) c.1426A>T (p.Ser476Cys) | |
22 | g.43946375G>A | CA10278281 | PNPLA3 | c.1439G>A (p.Ser480Asn) c.*849+1580G>A (n.*849+1580G>A) c.1427G>A (p.Ser476Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946375G>C | CA411848181 | PNPLA3 | c.1439G>C (p.Ser480Thr) c.*849+1580G>C (n.*849+1580G>C) c.1427G>C (p.Ser476Thr) | |
22 | g.43946375G= | CA2407489734 | PNPLA3 | c.1439G= (p.Ser480=) c.*849+1580G= (n.*849+1580G=) c.1427G= (p.Ser476=) | |
22 | g.43946375G>T | CA411848183 | PNPLA3 | c.1439G>T (p.Ser480Ile) c.*849+1580G>T (n.*849+1580G>T) c.1427G>T (p.Ser476Ile) | dbSNP gnomAD v4 |
22 | g.43946376T>A | CA411848185 | PNPLA3 | c.1440T>A (p.Ser480Arg) c.*849+1581T>A (n.*849+1581T>A) c.1428T>A (p.Ser476Arg) | |
22 | g.43946376T>C | CA515083266 | PNPLA3 | c.1440T>C (p.Ser480=) c.*849+1581T>C (n.*849+1581T>C) c.1428T>C (p.Ser476=) | |
22 | g.43946376T>G | CA411848187 | PNPLA3 | c.1440T>G (p.Ser480Arg) c.*849+1581T>G (n.*849+1581T>G) c.1428T>G (p.Ser476Arg) | dbSNP |
22 | g.43946376T= | CA2407489735 | PNPLA3 | c.1440T= (p.Ser480=) c.*849+1581T= (n.*849+1581T=) c.1428T= (p.Ser476=) | |
22 | g.43946377C>A | CA411848190 | PNPLA3 | c.1441C>A (p.Leu481Met) c.*849+1582C>A (n.*849+1582C>A) c.1429C>A (p.Leu477Met) | COSMIC |
22 | g.43946377C>G | CA411848188 | PNPLA3 | c.1441C>G (p.Leu481Val) c.*849+1582C>G (n.*849+1582C>G) c.1429C>G (p.Leu477Val) | |
22 | g.43946377C>T | CA515083272 | PNPLA3 | c.1441C>T (p.Leu481=) c.*849+1582C>T (n.*849+1582C>T) c.1429C>T (p.Leu477=) | |
22 | g.43946377_43946379delinsCTG | CA2407489736 | PNPLA3 | c.1441_1443delinsCTG (p.Leu481=) c.*849+1582_*849+1584delinsCTG (n.*849+1582_*849+1584delinsCTG) c.1429_1431delinsCTG (p.Leu477=) | |
22 | g.43946378T>A | CA411848192 | PNPLA3 | c.1442T>A (p.Leu481Gln) c.*849+1583T>A (n.*849+1583T>A) c.1430T>A (p.Leu477Gln) | |
22 | g.43946378T>C | CA411848194 | PNPLA3 | c.1442T>C (p.Leu481Pro) c.*849+1583T>C (n.*849+1583T>C) c.1430T>C (p.Leu477Pro) | |
22 | g.43946378T>G | CA411848195 | PNPLA3 | c.1442T>G (p.Leu481Arg) c.*849+1583T>G (n.*849+1583T>G) c.1430T>G (p.Leu477Arg) | |
22 | g.43946380_43946381del | CA10278282 | PNPLA3 | c.1444_1445del (p.Ter482SerextTer8) c.*849+1585_*849+1586del (n.*849+1585_*849+1586del) c.1432_1433del (p.Ter478SerextTer8) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.43946379G>A | CA515083284 | PNPLA3 | c.1443G>A (p.Leu481=) c.*849+1584G>A (n.*849+1584G>A) c.1431G>A (p.Leu477=) | gnomAD v4 |
22 | g.43946379G>C | CA515083286 | PNPLA3 | c.1443G>C (p.Leu481=) c.*849+1584G>C (n.*849+1584G>C) c.1431G>C (p.Leu477=) | |
22 | g.43946379G= | CA2407489737 | PNPLA3 | c.1443G= (p.Leu481=) c.*849+1584G= (n.*849+1584G=) c.1431G= (p.Leu477=) | |
22 | g.43946379G>T | CA515083288 | PNPLA3 | c.1443G>T (p.Leu481=) c.*849+1584G>T (n.*849+1584G>T) c.1431G>T (p.Leu477=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.43946380T>A | CA411848198 | PNPLA3 | c.1444T>A (p.Ter482Arg) c.*849+1585T>A (n.*849+1585T>A) c.1432T>A (p.Ter478Arg) | |
22 | g.43946380T>C | CA411848199 | PNPLA3 | c.1444T>C (p.Ter482Arg) c.*849+1585T>C (n.*849+1585T>C) c.1432T>C (p.Ter478Arg) | |
22 | g.43946380T>G | CA411848201 | PNPLA3 | c.1444T>G (p.Ter482Gly) c.*849+1585T>G (n.*849+1585T>G) c.1432T>G (p.Ter478Gly) | |
22 | g.43946381G>A | CA515083296 | PNPLA3 | c.1445G>A (p.Ter482=) c.*849+1586G>A (n.*849+1586G>A) c.1433G>A (p.Ter478=) | |
22 | g.43946381G>C | CA411848202 | PNPLA3 | c.1445G>C (p.Ter482Ser) c.*849+1586G>C (n.*849+1586G>C) c.1433G>C (p.Ter478Ser) | |
22 | g.43946381G>T | CA411848204 | PNPLA3 | c.1445G>T (p.Ter482Leu) c.*849+1586G>T (n.*849+1586G>T) c.1433G>T (p.Ter478Leu) | |
22 | g.43946382A>C | CA411848207 | PNPLA3 | c.1446A>C (p.Ter482Cys) c.*849+1587A>C (n.*849+1587A>C) c.1434A>C (p.Ter478Cys) | |
22 | g.43946382A>G | CA411848208 | PNPLA3 | c.1446A>G (p.Ter482Trp) c.*849+1587A>G (n.*849+1587A>G) c.1434A>G (p.Ter478Trp) | |
22 | g.43946382A>T | CA411848210 | PNPLA3 | c.1446A>T (p.Ter482Cys) c.*849+1587A>T (n.*849+1587A>T) c.1434A>T (p.Ter478Cys) | |
22 | g.43946383G>A | CA2657154798 | PNPLA3 | c.*1G>A (n.*1G>A) c.*849+1588G>A (n.*849+1588G>A) | gnomAD v4 |
22 | g.43946383G>C | CA2577772142 | PNPLA3 | c.*1G>C (n.*1G>C) c.*849+1588G>C (n.*849+1588G>C) | |
22 | g.43946384T>C | CA2657154799 | PNPLA3 | c.*2T>C (n.*2T>C) c.*849+1589T>C (n.*849+1589T>C) | gnomAD v4 |
22 | g.43946386A= | CA2407489738 | PNPLA3 | c.*4A= (n.*4A=) c.*849+1591A= (n.*849+1591A=) | |
22 | g.43946386A>G | CA10278283 | PNPLA3 | c.*4A>G (n.*4A>G) c.*849+1591A>G (n.*849+1591A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946388T>C | CA2657154800 | PNPLA3 | c.*6T>C (n.*6T>C) c.*849+1593T>C (n.*849+1593T>C) | gnomAD v4 |
22 | g.43946389_43946392delinsTGAG | CA2407489739 | PNPLA3 | c.*7_*10delinsTGAG (n.*7_*10delinsTGAG) c.*849+1594_*849+1597delinsTGAG (n.*849+1594_*849+1597delinsTGAG) | |
22 | g.43946390G>A | CA2657154801 | PNPLA3 | c.*8G>A (n.*8G>A) c.*849+1595G>A (n.*849+1595G>A) | gnomAD v4 |
22 | g.43946394_43946396del | CA10278284 | PNPLA3 | c.*12_*14del (n.*12_*14del) c.*849+1599_*849+1601del (n.*849+1599_*849+1601del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946396_43946400del | CA2657154802 | PNPLA3 | c.*14_*18del (n.*14_*18del) c.*849+1601_*849+1605del (n.*849+1601_*849+1605del) | gnomAD v4 |
22 | g.43946395G= | CA2407489740 | PNPLA3 | c.*13G= (n.*13G=) c.*849+1600G= (n.*849+1600G=) | |
22 | g.43946395G>T | CA2407489741 | PNPLA3 | c.*13G>T (n.*13G>T) c.*849+1600G>T (n.*849+1600G>T) | dbSNP |
22 | g.43946396G>A | CA2819114889 | PNPLA3 | c.*14G>A (n.*14G>A) c.*849+1601G>A (n.*849+1601G>A) | |
22 | g.43946396_43946397delinsGC | CA2407489742 | PNPLA3 | c.*14_*15delinsGC (n.*14_*15delinsGC) c.*849+1601_*849+1602delinsGC (n.*849+1601_*849+1602delinsGC) | |
22 | g.43946397del | CA2407489743 | PNPLA3 | c.*15del (n.*15del) c.*849+1602del (n.*849+1602del) | dbSNP |
22 | g.43946397C>A | CA2657154803 | PNPLA3 | c.*15C>A (n.*15C>A) c.*849+1602C>A (n.*849+1602C>A) | gnomAD v4 |
22 | g.43946397C= | CA2407489744 | PNPLA3 | c.*15C= (n.*15C=) c.*849+1602C= (n.*849+1602C=) | |
22 | g.43946397C>G | CA10278286 | PNPLA3 | c.*15C>G (n.*15C>G) c.*849+1602C>G (n.*849+1602C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946397C>T | CA10278285 | PNPLA3 | c.*15C>T (n.*15C>T) c.*849+1602C>T (n.*849+1602C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946398G>A | CA10278287 | PNPLA3 | c.*16G>A (n.*16G>A) c.*849+1603G>A (n.*849+1603G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946398G= | CA2407489745 | PNPLA3 | c.*16G= (n.*16G=) c.*849+1603G= (n.*849+1603G=) | |
22 | g.43946400G>C | CA2657154804 | PNPLA3 | c.*18G>C (n.*18G>C) c.*849+1605G>C (n.*849+1605G>C) | gnomAD v4 |
22 | g.43946401T>G | CA10278288 | PNPLA3 | c.*19T>G (n.*19T>G) c.*849+1606T>G (n.*849+1606T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946401T= | CA2407489746 | PNPLA3 | c.*19T= (n.*19T=) c.*849+1606T= (n.*849+1606T=) | |
22 | g.43946402C>A | CA2657154805 | PNPLA3 | c.*20C>A (n.*20C>A) c.*849+1607C>A (n.*849+1607C>A) | gnomAD v4 |
22 | g.43946402C>G | CA2657154806 | PNPLA3 | c.*20C>G (n.*20C>G) c.*849+1607C>G (n.*849+1607C>G) | gnomAD v4 |
22 | g.43946403T>C | CA2577772143 | PNPLA3 | c.*21T>C (n.*21T>C) c.*849+1608T>C (n.*849+1608T>C) | |
22 | g.43946404A>G | CA2577772144 | PNPLA3 | c.*22A>G (n.*22A>G) c.*849+1609A>G (n.*849+1609A>G) | gnomAD v4 |
22 | g.43946406C>A | CA2657154807 | PNPLA3 | c.*24C>A (n.*24C>A) c.*849+1611C>A (n.*849+1611C>A) | gnomAD v4 |
22 | g.43946412C= | CA2407489747 | PNPLA3 | c.*30C= (n.*30C=) c.*849+1617C= (n.*849+1617C=) | |
22 | g.43946412C>G | CA10278289 | PNPLA3 | c.*30C>G (n.*30C>G) c.*849+1617C>G (n.*849+1617C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946412C>T | CA2657154808 | PNPLA3 | c.*30C>T (n.*30C>T) c.*849+1617C>T (n.*849+1617C>T) | gnomAD v4 |
22 | g.43946413T>C | CA2657154809 | PNPLA3 | c.*31T>C (n.*31T>C) c.*849+1618T>C (n.*849+1618T>C) | gnomAD v4 |
22 | g.43946416C>A | CA2657154810 | PNPLA3 | c.*34C>A (n.*34C>A) c.*849+1621C>A (n.*849+1621C>A) | gnomAD v4 |
22 | g.43946416C= | CA2407489748 | PNPLA3 | c.*34C= (n.*34C=) c.*849+1621C= (n.*849+1621C=) | |
22 | g.43946416C>T | CA10278290 | PNPLA3 | c.*34C>T (n.*34C>T) c.*849+1621C>T (n.*849+1621C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.43946418G>A | CA2657154811 | PNPLA3 | c.*36G>A (n.*36G>A) c.*849+1623G>A (n.*849+1623G>A) | gnomAD v4 |
22 | g.43946418G>C | CA914698123 | PNPLA3 | c.*36G>C (n.*36G>C) c.*849+1623G>C (n.*849+1623G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946418G= | CA2407489749 | PNPLA3 | c.*36G= (n.*36G=) c.*849+1623G= (n.*849+1623G=) | |
22 | g.43946419A= | CA2407489750 | PNPLA3 | c.*37A= (n.*37A=) c.*849+1624A= (n.*849+1624A=) | |
22 | g.43946419A>G | CA2657154812 | PNPLA3 | c.*37A>G (n.*37A>G) c.*849+1624A>G (n.*849+1624A>G) | gnomAD v4 |
22 | g.43946419A>T | CA639830810 | PNPLA3 | c.*37A>T (n.*37A>T) c.*849+1624A>T (n.*849+1624A>T) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.43946420G>A | CA639830811 | PNPLA3 | c.*38G>A (n.*38G>A) c.*849+1625G>A (n.*849+1625G>A) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.43946420G>C | CA2577772145 | PNPLA3 | c.*38G>C (n.*38G>C) c.*849+1625G>C (n.*849+1625G>C) | |
22 | g.43946420G= | CA2407489751 | PNPLA3 | c.*38G= (n.*38G=) c.*849+1625G= (n.*849+1625G=) | |
22 | g.43946423G>C | CA2657154813 | PNPLA3 | c.*41G>C (n.*41G>C) c.*849+1628G>C (n.*849+1628G>C) | gnomAD v4 |
22 | g.43946423G>T | CA2657154814 | PNPLA3 | c.*41G>T (n.*41G>T) c.*849+1628G>T (n.*849+1628G>T) | gnomAD v4 |
22 | g.43946424C>A | CA2577772147 | PNPLA3 | c.*42C>A (n.*42C>A) c.*849+1629C>A (n.*849+1629C>A) | |
22 | g.43946424C>G | CA2657154815 | PNPLA3 | c.*42C>G (n.*42C>G) c.*849+1629C>G (n.*849+1629C>G) | gnomAD v4 |
22 | g.43946424C>T | CA2577772146 | PNPLA3 | c.*42C>T (n.*42C>T) c.*849+1629C>T (n.*849+1629C>T) | gnomAD v4 |
22 | g.43946425T>A | CA2657154816 | PNPLA3 | c.*43T>A (n.*43T>A) c.*849+1630T>A (n.*849+1630T>A) | gnomAD v4 |
22 | g.43946426A>G | CA2657154817 | PNPLA3 | c.*44A>G (n.*44A>G) c.*849+1631A>G (n.*849+1631A>G) | gnomAD v4 |
22 | g.43946427A= | CA2407489752 | PNPLA3 | c.*45A= (n.*45A=) c.*849+1632A= (n.*849+1632A=) | |
22 | g.43946427A>C | CA753441737 | PNPLA3 | c.*45A>C (n.*45A>C) c.*849+1632A>C (n.*849+1632A>C) | dbSNP gnomAD v4 |
22 | g.43946432T>C | CA639830812 | PNPLA3 | c.*50T>C (n.*50T>C) c.*849+1637T>C (n.*849+1637T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946432T= | CA2407489753 | PNPLA3 | c.*50T= (n.*50T=) c.*849+1637T= (n.*849+1637T=) | |
22 | g.43946433C= | CA2407489754 | PNPLA3 | c.*51C= (n.*51C=) c.*849+1638C= (n.*849+1638C=) | |
22 | g.43946433C>G | CA10278292 | PNPLA3 | c.*51C>G (n.*51C>G) c.*849+1638C>G (n.*849+1638C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946433C>T | CA10278291 | PNPLA3 | c.*51C>T (n.*51C>T) c.*849+1638C>T (n.*849+1638C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946434C>A | CA2577772148 | PNPLA3 | c.*52C>A (n.*52C>A) c.*849+1639C>A (n.*849+1639C>A) | gnomAD v4 |
22 | g.43946434C>T | CA2657154818 | PNPLA3 | c.*52C>T (n.*52C>T) c.*849+1639C>T (n.*849+1639C>T) | gnomAD v4 |
22 | g.43946435C>A | CA2657154819 | PNPLA3 | c.*53C>A (n.*53C>A) c.*849+1640C>A (n.*849+1640C>A) | gnomAD v4 |
22 | g.43946435C>T | CA2657154820 | PNPLA3 | c.*53C>T (n.*53C>T) c.*849+1640C>T (n.*849+1640C>T) | gnomAD v4 |
22 | g.43946436A>G | CA2657154821 | PNPLA3 | c.*54A>G (n.*54A>G) c.*849+1641A>G (n.*849+1641A>G) | gnomAD v4 |
22 | g.43946437T>A | CA2657154822 | PNPLA3 | c.*55T>A (n.*55T>A) c.*849+1642T>A (n.*849+1642T>A) | gnomAD v4 |
22 | g.43946437T>G | CA2657154823 | PNPLA3 | c.*55T>G (n.*55T>G) c.*849+1642T>G (n.*849+1642T>G) | gnomAD v4 |
22 | g.43946438C>A | CA2657154824 | PNPLA3 | c.*56C>A (n.*56C>A) c.*849+1643C>A (n.*849+1643C>A) | gnomAD v4 |
22 | g.43946438C>T | CA2577772149 | PNPLA3 | c.*56C>T (n.*56C>T) c.*849+1643C>T (n.*849+1643C>T) | |
22 | g.43946439T>A | CA2657154825 | PNPLA3 | c.*57T>A (n.*57T>A) c.*849+1644T>A (n.*849+1644T>A) | gnomAD v4 |
22 | g.43946441T>C | CA2657154826 | PNPLA3 | c.*59T>C (n.*59T>C) c.*849+1646T>C (n.*849+1646T>C) | gnomAD v4 |
22 | g.43946442G>A | CA2657154827 | PNPLA3 | c.*60G>A (n.*60G>A) c.*849+1647G>A (n.*849+1647G>A) | gnomAD v4 |
22 | g.43946443T>C | CA2657154828 | PNPLA3 | c.*61T>C (n.*61T>C) c.*849+1648T>C (n.*849+1648T>C) | gnomAD v4 |
22 | g.43946444G>A | CA2657154829 | PNPLA3 | c.*62G>A (n.*62G>A) c.*849+1649G>A (n.*849+1649G>A) | gnomAD v4 |
22 | g.43946445C>A | CA2580687313 | PNPLA3 | c.*63C>A (n.*63C>A) c.*849+1650C>A (n.*849+1650C>A) | gnomAD v4 |
22 | g.43946445C= | CA2407489755 | PNPLA3 | c.*63C= (n.*63C=) c.*849+1650C= (n.*849+1650C=) | |
22 | g.43946445C>G | CA2407489756 | PNPLA3 | c.*63C>G (n.*63C>G) c.*849+1650C>G (n.*849+1650C>G) | dbSNP |
22 | g.43946445C>T | CA10651441 | PNPLA3 | c.*63C>T (n.*63C>T) c.*849+1650C>T (n.*849+1650C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946447G>A | CA2407489758 | PNPLA3 | c.*65G>A (n.*65G>A) c.*849+1652G>A (n.*849+1652G>A) | dbSNP gnomAD v4 |
22 | g.43946447G= | CA2407489757 | PNPLA3 | c.*65G= (n.*65G=) c.*849+1652G= (n.*849+1652G=) |