Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
22 | g.43946299A= | CA2407489702 | PNPLA3 | c.1363A= (p.Asn455=) c.*849+1504A= (n.*849+1504A=) c.1351A= (p.Asn451=) | |
22 | g.43946299A>C | CA411847883 | PNPLA3 | c.1363A>C (p.Asn455His) c.*849+1504A>C (n.*849+1504A>C) c.1351A>C (p.Asn451His) | |
22 | g.43946299A>G | CA411847884 | PNPLA3 | c.1363A>G (p.Asn455Asp) c.*849+1504A>G (n.*849+1504A>G) c.1351A>G (p.Asn451Asp) | |
22 | g.43946299A>T | CA411847886 | PNPLA3 | c.1363A>T (p.Asn455Tyr) c.*849+1504A>T (n.*849+1504A>T) c.1351A>T (p.Asn451Tyr) | |
22 | g.43946300A= | CA2407489704 | PNPLA3 | c.1364A= (p.Asn455=) c.*849+1505A= (n.*849+1505A=) c.1352A= (p.Asn451=) | |
22 | g.43946300A>C | CA411847891 | PNPLA3 | c.1364A>C (p.Asn455Thr) c.*849+1505A>C (n.*849+1505A>C) c.1352A>C (p.Asn451Thr) | |
22 | g.43946300A>G | CA10278269 | PNPLA3 | c.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 |
22 | g.43946300A>T | CA411847889 | PNPLA3 | c.1364A>T (p.Asn455Ile) c.*849+1505A>T (n.*849+1505A>T) c.1352A>T (p.Asn451Ile) | |
22 | g.43946300_43946303delinsACTT | CA2407489703 | PNPLA3 | c.1364_1367delinsACTT (p.Asn455=) c.*849+1505_*849+1508delinsACTT (n.*849+1505_*849+1508delinsACTT) c.1352_1355delinsACTT (p.Asn451=) | |
22 | g.43946300_43946303dup | CA10278267 | PNPLA3 | c.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 |
22 | g.43946301C>A | CA411847894 | PNPLA3 | c.1365C>A (p.Asn455Lys) c.*849+1506C>A (n.*849+1506C>A) c.1353C>A (p.Asn451Lys) | |
22 | g.43946301C>G | CA411847896 | PNPLA3 | c.1365C>G (p.Asn455Lys) c.*849+1506C>G (n.*849+1506C>G) c.1353C>G (p.Asn451Lys) | |
22 | g.43946301C>T | CA515082889 | PNPLA3 | c.1365C>T (p.Asn455=) c.*849+1506C>T (n.*849+1506C>T) c.1353C>T (p.Asn451=) | |
22 | g.43946307_43946309del | CA10278268 | PNPLA3 | c.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 |
22 | g.43946302T>A | CA10278270 | PNPLA3 | c.1366T>A (p.Phe456Ile) c.*849+1507T>A (n.*849+1507T>A) c.1354T>A (p.Phe452Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
22 | g.43946302T>C | CA411847900 | PNPLA3 | c.1366T>C (p.Phe456Leu) c.*849+1507T>C (n.*849+1507T>C) c.1354T>C (p.Phe452Leu) | |
22 | g.43946302T>G | CA411847901 | PNPLA3 | c.1366T>G (p.Phe456Val) c.*849+1507T>G (n.*849+1507T>G) c.1354T>G (p.Phe452Val) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.43946302T= | CA2407489705 | PNPLA3 | c.1366T= (p.Phe456=) c.*849+1507T= (n.*849+1507T=) c.1354T= (p.Phe452=) | |
22 | g.43946303T>A | CA411847903 | PNPLA3 | c.1367T>A (p.Phe456Tyr) c.*849+1508T>A (n.*849+1508T>A) c.1355T>A (p.Phe452Tyr) | gnomAD v4 COSMIC |
22 | g.43946303T>C | CA411847905 | PNPLA3 | c.1367T>C (p.Phe456Ser) c.*849+1508T>C (n.*849+1508T>C) c.1355T>C (p.Phe452Ser) | |
22 | g.43946303T>G | CA411847906 | PNPLA3 | c.1367T>G (p.Phe456Cys) c.*849+1508T>G (n.*849+1508T>G) c.1355T>G (p.Phe452Cys) | |
22 | g.43946304C>A | CA411847908 | PNPLA3 | c.1368C>A (p.Phe456Leu) c.*849+1509C>A (n.*849+1509C>A) c.1356C>A (p.Phe452Leu) | dbSNP gnomAD v4 |
22 | g.43946304C= | CA2407489706 | PNPLA3 | c.1368C= (p.Phe456=) c.*849+1509C= (n.*849+1509C=) c.1356C= (p.Phe452=) | |
22 | g.43946304C>G | CA411847911 | PNPLA3 | c.1368C>G (p.Phe456Leu) c.*849+1509C>G (n.*849+1509C>G) c.1356C>G (p.Phe452Leu) | |
22 | g.43946304C>T | CA515082905 | PNPLA3 | c.1368C>T (p.Phe456=) c.*849+1509C>T (n.*849+1509C>T) c.1356C>T (p.Phe452=) | |
22 | g.43946305T>A | CA411847912 | PNPLA3 | c.1369T>A (p.Phe457Ile) c.*849+1510T>A (n.*849+1510T>A) c.1357T>A (p.Phe453Ile) | |
22 | g.43946305T>C | CA411847913 | PNPLA3 | c.1369T>C (p.Phe457Leu) c.*849+1510T>C (n.*849+1510T>C) c.1357T>C (p.Phe453Leu) | gnomAD v4 |
22 | g.43946305T>G | CA411847915 | PNPLA3 | c.1369T>G (p.Phe457Val) c.*849+1510T>G (n.*849+1510T>G) c.1357T>G (p.Phe453Val) | |
22 | g.43946306T>A | CA411847917 | PNPLA3 | c.1370T>A (p.Phe457Tyr) c.*849+1511T>A (n.*849+1511T>A) c.1358T>A (p.Phe453Tyr) | |
22 | g.43946306T>C | CA411847919 | PNPLA3 | c.1370T>C (p.Phe457Ser) c.*849+1511T>C (n.*849+1511T>C) c.1358T>C (p.Phe453Ser) | |
22 | g.43946306T>G | CA411847920 | PNPLA3 | c.1370T>G (p.Phe457Cys) c.*849+1511T>G (n.*849+1511T>G) c.1358T>G (p.Phe453Cys) | |
22 | g.43946307C>A | CA411847922 | PNPLA3 | c.1371C>A (p.Phe457Leu) c.*849+1512C>A (n.*849+1512C>A) c.1359C>A (p.Phe453Leu) | COSMIC |
22 | g.43946307C>G | CA411847924 | PNPLA3 | c.1371C>G (p.Phe457Leu) c.*849+1512C>G (n.*849+1512C>G) c.1359C>G (p.Phe453Leu) | |
22 | g.43946307C>T | CA515082909 | PNPLA3 | c.1371C>T (p.Phe457=) c.*849+1512C>T (n.*849+1512C>T) c.1359C>T (p.Phe453=) | gnomAD v4 |
22 | g.43946308T>A | CA411847925 | PNPLA3 | c.1372T>A (p.Leu458Met) c.*849+1513T>A (n.*849+1513T>A) c.1360T>A (p.Leu454Met) | |
22 | g.43946308T>C | CA10278271 | PNPLA3 | c.1372T>C (p.Leu458=) c.*849+1513T>C (n.*849+1513T>C) c.1360T>C (p.Leu454=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.43946308T>G | CA411847928 | PNPLA3 | c.1372T>G (p.Leu458Val) c.*849+1513T>G (n.*849+1513T>G) c.1360T>G (p.Leu454Val) | |
22 | g.43946308T= | CA2407489707 | PNPLA3 | c.1372T= (p.Leu458=) c.*849+1513T= (n.*849+1513T=) c.1360T= (p.Leu454=) | |
22 | g.43946309T>A | CA411847930 | PNPLA3 | c.1373T>A (p.Leu458Ter) c.*849+1514T>A (n.*849+1514T>A) c.1361T>A (p.Leu454Ter) | |
22 | g.43946309T>C | CA411847931 | PNPLA3 | c.1373T>C (p.Leu458Ser) c.*849+1514T>C (n.*849+1514T>C) c.1361T>C (p.Leu454Ser) | |
22 | g.43946309T>G | CA411847933 | PNPLA3 | c.1373T>G (p.Leu458Trp) c.*849+1514T>G (n.*849+1514T>G) c.1361T>G (p.Leu454Trp) | |
22 | g.43946310G>A | CA515082921 | PNPLA3 | c.1374G>A (p.Leu458=) c.*849+1515G>A (n.*849+1515G>A) c.1362G>A (p.Leu454=) | |
22 | g.43946310G>C | CA411847937 | PNPLA3 | c.1374G>C (p.Leu458Phe) c.*849+1515G>C (n.*849+1515G>C) c.1362G>C (p.Leu454Phe) | |
22 | g.43946310G>T | CA411847935 | PNPLA3 | c.1374G>T (p.Leu458Phe) c.*849+1515G>T (n.*849+1515G>T) c.1362G>T (p.Leu454Phe) | |
22 | g.43946311G>A | CA411847938 | PNPLA3 | c.1375G>A (p.Gly459Ser) c.*849+1516G>A (n.*849+1516G>A) c.1363G>A (p.Gly455Ser) | |
22 | g.43946311G>C | CA411847939 | PNPLA3 | c.1375G>C (p.Gly459Arg) c.*849+1516G>C (n.*849+1516G>C) c.1363G>C (p.Gly455Arg) | |
22 | g.43946311G>T | CA411847941 | PNPLA3 | c.1375G>T (p.Gly459Cys) c.*849+1516G>T (n.*849+1516G>T) c.1363G>T (p.Gly455Cys) | gnomAD v4 |
22 | g.43946312G>A | CA10278272 | PNPLA3 | c.1376G>A (p.Gly459Asp) c.*849+1517G>A (n.*849+1517G>A) c.1364G>A (p.Gly455Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.43946312G>C | CA411847946 | PNPLA3 | c.1376G>C (p.Gly459Ala) c.*849+1517G>C (n.*849+1517G>C) c.1364G>C (p.Gly455Ala) | |
22 | g.43946312G= | CA2407489708 | PNPLA3 | c.1376G= (p.Gly459=) c.*849+1517G= (n.*849+1517G=) c.1364G= (p.Gly455=) | |
22 | g.43946312G>T | CA411847948 | PNPLA3 | c.1376G>T (p.Gly459Val) c.*849+1517G>T (n.*849+1517G>T) c.1364G>T (p.Gly455Val) | gnomAD v4 |
22 | g.43946313C>A | CA515082937 | PNPLA3 | c.1377C>A (p.Gly459=) c.*849+1518C>A (n.*849+1518C>A) c.1365C>A (p.Gly455=) | |
22 | g.43946313C>G | CA515082935 | PNPLA3 | c.1377C>G (p.Gly459=) c.*849+1518C>G (n.*849+1518C>G) c.1365C>G (p.Gly455=) | dbSNP gnomAD v4 |
22 | g.43946313C>T | CA515082933 | PNPLA3 | c.1377C>T (p.Gly459=) c.*849+1518C>T (n.*849+1518C>T) c.1365C>T (p.Gly455=) | gnomAD v4 |
22 | g.43946314A>C | CA411847953 | PNPLA3 | c.1378A>C (p.Asn460His) c.*849+1519A>C (n.*849+1519A>C) c.1366A>C (p.Asn456His) | |
22 | g.43946314A>G | CA411847950 | PNPLA3 | c.1378A>G (p.Asn460Asp) c.*849+1519A>G (n.*849+1519A>G) c.1366A>G (p.Asn456Asp) | |
22 | g.43946314A>T | CA411847952 | PNPLA3 | c.1378A>T (p.Asn460Tyr) c.*849+1519A>T (n.*849+1519A>T) c.1366A>T (p.Asn456Tyr) | |
22 | g.43946315A= | CA2407489709 | PNPLA3 | c.1379A= (p.Asn460=) c.*849+1520A= (n.*849+1520A=) c.1367A= (p.Asn456=) | |
22 | g.43946315A>C | CA411847955 | PNPLA3 | c.1379A>C (p.Asn460Thr) c.*849+1520A>C (n.*849+1520A>C) c.1367A>C (p.Asn456Thr) | |
22 | g.43946315A>G | CA10278273 | PNPLA3 | c.1379A>G (p.Asn460Ser) c.*849+1520A>G (n.*849+1520A>G) c.1367A>G (p.Asn456Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.43946315A>T | CA411847958 | PNPLA3 | c.1379A>T (p.Asn460Ile) c.*849+1520A>T (n.*849+1520A>T) c.1367A>T (p.Asn456Ile) | |
22 | g.43946316T>A | CA411847959 | PNPLA3 | c.1380T>A (p.Asn460Lys) c.*849+1521T>A (n.*849+1521T>A) c.1368T>A (p.Asn456Lys) | |
22 | g.43946316T>C | CA515082948 | PNPLA3 | c.1380T>C (p.Asn460=) c.*849+1521T>C (n.*849+1521T>C) c.1368T>C (p.Asn456=) | |
22 | g.43946316T>G | CA411847961 | PNPLA3 | c.1380T>G (p.Asn460Lys) c.*849+1521T>G (n.*849+1521T>G) c.1368T>G (p.Asn456Lys) | |
22 | g.43946317A>C | CA411847966 | PNPLA3 | c.1381A>C (p.Lys461Gln) c.*849+1522A>C (n.*849+1522A>C) c.1369A>C (p.Lys457Gln) | |
22 | g.43946317A>G | CA411847963 | PNPLA3 | c.1381A>G (p.Lys461Glu) c.*849+1522A>G (n.*849+1522A>G) c.1369A>G (p.Lys457Glu) | |
22 | g.43946317A>T | CA411847964 | PNPLA3 | c.1381A>T (p.Lys461Ter) c.*849+1522A>T (n.*849+1522A>T) c.1369A>T (p.Lys457Ter) | |
22 | g.43946318A>C | CA411847968 | PNPLA3 | c.1382A>C (p.Lys461Thr) c.*849+1523A>C (n.*849+1523A>C) c.1370A>C (p.Lys457Thr) | |
22 | g.43946318A>G | CA411847970 | PNPLA3 | c.1382A>G (p.Lys461Arg) c.*849+1523A>G (n.*849+1523A>G) c.1370A>G (p.Lys457Arg) | COSMIC |
22 | g.43946318A>T | CA411847972 | PNPLA3 | c.1382A>T (p.Lys461Ile) c.*849+1523A>T (n.*849+1523A>T) c.1370A>T (p.Lys457Ile) | |
22 | g.43946319A>C | CA411847973 | PNPLA3 | c.1383A>C (p.Lys461Asn) c.*849+1524A>C (n.*849+1524A>C) c.1371A>C (p.Lys457Asn) | |
22 | g.43946319A>G | CA515082960 | PNPLA3 | c.1383A>G (p.Lys461=) c.*849+1524A>G (n.*849+1524A>G) c.1371A>G (p.Lys457=) | |
22 | g.43946319A>T | CA411847974 | PNPLA3 | c.1383A>T (p.Lys461Asn) c.*849+1524A>T (n.*849+1524A>T) c.1371A>T (p.Lys457Asn) | |
22 | g.43946320G>A | CA10278274 | PNPLA3 | c.1384G>A (p.Val462Ile) c.*849+1525G>A (n.*849+1525G>A) c.1372G>A (p.Val458Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946320G>C | CA411847978 | PNPLA3 | c.1384G>C (p.Val462Leu) c.*849+1525G>C (n.*849+1525G>C) c.1372G>C (p.Val458Leu) | |
22 | g.43946320G= | CA2407489710 | PNPLA3 | c.1384G= (p.Val462=) c.*849+1525G= (n.*849+1525G=) c.1372G= (p.Val458=) | |
22 | g.43946320G>T | CA411847976 | PNPLA3 | c.1384G>T (p.Val462Leu) c.*849+1525G>T (n.*849+1525G>T) c.1372G>T (p.Val458Leu) | |
22 | g.43946321T>A | CA411847980 | PNPLA3 | c.1385T>A (p.Val462Glu) c.*849+1526T>A (n.*849+1526T>A) c.1373T>A (p.Val458Glu) | |
22 | g.43946321T>C | CA411847981 | PNPLA3 | c.1385T>C (p.Val462Ala) c.*849+1526T>C (n.*849+1526T>C) c.1373T>C (p.Val458Ala) | |
22 | g.43946321T>G | CA411847982 | PNPLA3 | c.1385T>G (p.Val462Gly) c.*849+1526T>G (n.*849+1526T>G) c.1373T>G (p.Val458Gly) | |
22 | g.43946322A>C | CA515082974 | PNPLA3 | c.1386A>C (p.Val462=) c.*849+1527A>C (n.*849+1527A>C) c.1374A>C (p.Val458=) | |
22 | g.43946322A>G | CA515082976 | PNPLA3 | c.1386A>G (p.Val462=) c.*849+1527A>G (n.*849+1527A>G) c.1374A>G (p.Val458=) | |
22 | g.43946322A>T | CA515082977 | PNPLA3 | c.1386A>T (p.Val462=) c.*849+1527A>T (n.*849+1527A>T) c.1374A>T (p.Val458=) | |
22 | g.43946322_43946323del | CA2577772141 | PNPLA3 | c.1386_1387del (p.Pro463CysfsTer4) c.*849+1527_*849+1528del (n.*849+1527_*849+1528del) c.1374_1375del (p.Pro459CysfsTer4) | |
22 | g.43946323C>A | CA411847985 | PNPLA3 | c.1387C>A (p.Pro463Thr) c.*849+1528C>A (n.*849+1528C>A) c.1375C>A (p.Pro459Thr) | |
22 | g.43946323C>G | CA411847986 | PNPLA3 | c.1387C>G (p.Pro463Ala) c.*849+1528C>G (n.*849+1528C>G) c.1375C>G (p.Pro459Ala) | |
22 | g.43946323C>T | CA411847987 | PNPLA3 | c.1387C>T (p.Pro463Ser) c.*849+1528C>T (n.*849+1528C>T) c.1375C>T (p.Pro459Ser) | gnomAD v4 |
22 | g.43946324C>A | CA411847992 | PNPLA3 | c.1388C>A (p.Pro463His) c.*849+1529C>A (n.*849+1529C>A) c.1376C>A (p.Pro459His) | gnomAD v4 |
22 | g.43946324C>G | CA411847989 | PNPLA3 | c.1388C>G (p.Pro463Arg) c.*849+1529C>G (n.*849+1529C>G) c.1376C>G (p.Pro459Arg) | |
22 | g.43946324C>T | CA411847990 | PNPLA3 | c.1388C>T (p.Pro463Leu) c.*849+1529C>T (n.*849+1529C>T) c.1376C>T (p.Pro459Leu) | |
22 | g.43946325T>A | CA515082986 | PNPLA3 | c.1389T>A (p.Pro463=) c.*849+1530T>A (n.*849+1530T>A) c.1377T>A (p.Pro459=) | |
22 | g.43946325T>C | CA515082988 | PNPLA3 | c.1389T>C (p.Pro463=) c.*849+1530T>C (n.*849+1530T>C) c.1377T>C (p.Pro459=) | |
22 | g.43946325T>G | CA515083002 | PNPLA3 | c.1389T>G (p.Pro463=) c.*849+1530T>G (n.*849+1530T>G) c.1377T>G (p.Pro459=) | |
22 | g.43946326G>A | CA411847994 | PNPLA3 | c.1390G>A (p.Ala464Thr) c.*849+1531G>A (n.*849+1531G>A) c.1378G>A (p.Ala460Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946326G>C | CA411847995 | PNPLA3 | c.1390G>C (p.Ala464Pro) c.*849+1531G>C (n.*849+1531G>C) c.1378G>C (p.Ala460Pro) | |
22 | g.43946326G= | CA2407489711 | PNPLA3 | c.1390G= (p.Ala464=) c.*849+1531G= (n.*849+1531G=) c.1378G= (p.Ala460=) | |
22 | g.43946326G>T | CA411847997 | PNPLA3 | c.1390G>T (p.Ala464Ser) c.*849+1531G>T (n.*849+1531G>T) c.1378G>T (p.Ala460Ser) | |
22 | g.43946327C>A | CA411847999 | PNPLA3 | c.1391C>A (p.Ala464Asp) c.*849+1532C>A (n.*849+1532C>A) c.1379C>A (p.Ala460Asp) | |
22 | g.43946327C>G | CA411848000 | PNPLA3 | c.1391C>G (p.Ala464Gly) c.*849+1532C>G (n.*849+1532C>G) c.1379C>G (p.Ala460Gly) | |
22 | g.43946327C>T | CA411848002 | PNPLA3 | c.1391C>T (p.Ala464Val) c.*849+1532C>T (n.*849+1532C>T) c.1379C>T (p.Ala460Val) | |
22 | g.43946328T>A | CA515083014 | PNPLA3 | c.1392T>A (p.Ala464=) c.*849+1533T>A (n.*849+1533T>A) c.1380T>A (p.Ala460=) | |
22 | g.43946328T>C | CA515083016 | PNPLA3 | c.1392T>C (p.Ala464=) c.*849+1533T>C (n.*849+1533T>C) c.1380T>C (p.Ala460=) | |
22 | g.43946328T>G | CA515083019 | PNPLA3 | c.1392T>G (p.Ala464=) c.*849+1533T>G (n.*849+1533T>G) c.1380T>G (p.Ala460=) | gnomAD v4 |
22 | g.43946329G>A | CA324869418 | PNPLA3 | c.1393G>A (p.Gly465Ser) c.*849+1534G>A (n.*849+1534G>A) c.1381G>A (p.Gly461Ser) | dbSNP |
22 | g.43946329G>C | CA411848005 | PNPLA3 | c.1393G>C (p.Gly465Arg) c.*849+1534G>C (n.*849+1534G>C) c.1381G>C (p.Gly461Arg) | |
22 | g.43946329G= | CA2407489712 | PNPLA3 | c.1393G= (p.Gly465=) c.*849+1534G= (n.*849+1534G=) c.1381G= (p.Gly461=) | |
22 | g.43946329G>T | CA411848007 | PNPLA3 | c.1393G>T (p.Gly465Cys) c.*849+1534G>T (n.*849+1534G>T) c.1381G>T (p.Gly461Cys) | |
22 | g.43946330G>A | CA411848008 | PNPLA3 | c.1394G>A (p.Gly465Asp) c.*849+1535G>A (n.*849+1535G>A) c.1382G>A (p.Gly461Asp) | |
22 | g.43946330G>C | CA411848010 | PNPLA3 | c.1394G>C (p.Gly465Ala) c.*849+1535G>C (n.*849+1535G>C) c.1382G>C (p.Gly461Ala) | |
22 | g.43946330G>T | CA411848011 | PNPLA3 | c.1394G>T (p.Gly465Val) c.*849+1535G>T (n.*849+1535G>T) c.1382G>T (p.Gly461Val) | gnomAD v4 |
22 | g.43946331T>A | CA515083032 | PNPLA3 | c.1395T>A (p.Gly465=) c.*849+1536T>A (n.*849+1536T>A) c.1383T>A (p.Gly461=) | |
22 | g.43946331T>C | CA515083035 | PNPLA3 | c.1395T>C (p.Gly465=) c.*849+1536T>C (n.*849+1536T>C) c.1383T>C (p.Gly461=) | |
22 | g.43946331T>G | CA515083031 | PNPLA3 | c.1395T>G (p.Gly465=) c.*849+1536T>G (n.*849+1536T>G) c.1383T>G (p.Gly461=) | |
22 | g.43946332G>A | CA411848014 | PNPLA3 | c.1396G>A (p.Ala466Thr) c.*849+1537G>A (n.*849+1537G>A) c.1384G>A (p.Ala462Thr) | |
22 | g.43946332G>C | CA411848015 | PNPLA3 | c.1396G>C (p.Ala466Pro) c.*849+1537G>C (n.*849+1537G>C) c.1384G>C (p.Ala462Pro) | |
22 | g.43946332G= | CA2407489713 | PNPLA3 | c.1396G= (p.Ala466=) c.*849+1537G= (n.*849+1537G=) c.1384G= (p.Ala462=) | |
22 | g.43946332G>T | CA10278275 | PNPLA3 | c.1396G>T (p.Ala466Ser) c.*849+1537G>T (n.*849+1537G>T) c.1384G>T (p.Ala462Ser) | dbSNP ExAC gnomAD v2 |
22 | g.43946333C>A | CA411848017 | PNPLA3 | c.1397C>A (p.Ala466Asp) c.*849+1538C>A (n.*849+1538C>A) c.1385C>A (p.Ala462Asp) | |
22 | g.43946333C= | CA2407489714 | PNPLA3 | c.1397C= (p.Ala466=) c.*849+1538C= (n.*849+1538C=) c.1385C= (p.Ala462=) | |
22 | g.43946333C>G | CA411848019 | PNPLA3 | c.1397C>G (p.Ala466Gly) c.*849+1538C>G (n.*849+1538C>G) c.1385C>G (p.Ala462Gly) | dbSNP gnomAD v4 |
22 | g.43946333C>T | CA324869419 | PNPLA3 | c.1397C>T (p.Ala466Val) c.*849+1538C>T (n.*849+1538C>T) c.1385C>T (p.Ala462Val) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.43946334del | CA2738211621 | PNPLA3 | c.1398del (p.Glu467ArgfsTer11) c.*849+1539del (n.*849+1539del) c.1386del (p.Glu463ArgfsTer11) | dbSNP |
22 | g.43946334T>A | CA515083045 | PNPLA3 | c.1398T>A (p.Ala466=) c.*849+1539T>A (n.*849+1539T>A) c.1386T>A (p.Ala462=) | |
22 | g.43946334T>C | CA515083046 | PNPLA3 | c.1398T>C (p.Ala466=) c.*849+1539T>C (n.*849+1539T>C) c.1386T>C (p.Ala462=) | dbSNP gnomAD v4 |
22 | g.43946334T>G | CA515083048 | PNPLA3 | c.1398T>G (p.Ala466=) c.*849+1539T>G (n.*849+1539T>G) c.1386T>G (p.Ala462=) | |
22 | g.43946334T= | CA2407489715 | PNPLA3 | c.1398T= (p.Ala466=) c.*849+1539T= (n.*849+1539T=) c.1386T= (p.Ala462=) |