Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.86716541_86716549del | CA669471224 | LDB3 | n.515-2186_515-2178del c.1257_1265del (p.Glu420_Ala422del) c.1305_1313del (p.Glu436_Ala438del) c.1446_1454del (p.Glu483_Ala485del) c.1116_1124del (p.Glu373_Ala375del) c.1461_1469del (p.Glu488_Ala490del) c.1698_1706del (p.Glu567_Ala569del) c.1650_1658del (p.Glu551_Ala553del) c.1509_1517del (p.Glu504_Ala506del) c.1494_1502del (p.Glu499_Ala501del) c.1353_1361del (p.Glu452_Ala454del) c.1164_1172del (p.Glu389_Ala391del) c.1149_1157del (p.Glu384_Ala386del) c.654_662del (p.Glu219_Ala221del) c.465_473del (p.Glu156_Ala158del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.86716546C>A | CA377450773 | LDB3 | n.515-2181C>A c.1262C>A (p.Pro421His) c.1310C>A (p.Pro437His) c.1451C>A (p.Pro484His) c.1121C>A (p.Pro374His) c.1466C>A (p.Pro489His) c.1703C>A (p.Pro568His) c.1655C>A (p.Pro552His) c.1514C>A (p.Pro505His) c.1499C>A (p.Pro500His) c.1358C>A (p.Pro453His) c.1169C>A (p.Pro390His) c.1154C>A (p.Pro385His) c.659C>A (p.Pro220His) c.470C>A (p.Pro157His) | |
10 | g.86716546C= | CA1925631929 | LDB3 | n.515-2181C= c.1262C= (p.Pro421=) c.1310C= (p.Pro437=) c.1451C= (p.Pro484=) c.1121C= (p.Pro374=) c.1466C= (p.Pro489=) c.1703C= (p.Pro568=) c.1655C= (p.Pro552=) c.1514C= (p.Pro505=) c.1499C= (p.Pro500=) c.1358C= (p.Pro453=) c.1169C= (p.Pro390=) c.1154C= (p.Pro385=) c.659C= (p.Pro220=) c.470C= (p.Pro157=) | |
10 | g.86716546C>G | CA377450774 | LDB3 | n.515-2181C>G c.1262C>G (p.Pro421Arg) c.1310C>G (p.Pro437Arg) c.1451C>G (p.Pro484Arg) c.1121C>G (p.Pro374Arg) c.1466C>G (p.Pro489Arg) c.1703C>G (p.Pro568Arg) c.1655C>G (p.Pro552Arg) c.1514C>G (p.Pro505Arg) c.1499C>G (p.Pro500Arg) c.1358C>G (p.Pro453Arg) c.1169C>G (p.Pro390Arg) c.1154C>G (p.Pro385Arg) c.659C>G (p.Pro220Arg) c.470C>G (p.Pro157Arg) | |
10 | g.86716546C>T | CA377450777 | LDB3 | n.515-2181C>T c.1262C>T (p.Pro421Leu) c.1310C>T (p.Pro437Leu) c.1451C>T (p.Pro484Leu) c.1121C>T (p.Pro374Leu) c.1466C>T (p.Pro489Leu) c.1703C>T (p.Pro568Leu) c.1655C>T (p.Pro552Leu) c.1514C>T (p.Pro505Leu) c.1499C>T (p.Pro500Leu) c.1358C>T (p.Pro453Leu) c.1169C>T (p.Pro390Leu) c.1154C>T (p.Pro385Leu) c.659C>T (p.Pro220Leu) c.470C>T (p.Pro157Leu) | dbSNP gnomAD v4 |
10 | g.86716547T>A | CA470375395 | LDB3 | n.515-2180T>A c.1263T>A (p.Pro421=) c.1311T>A (p.Pro437=) c.1452T>A (p.Pro484=) c.1122T>A (p.Pro374=) c.1467T>A (p.Pro489=) c.1704T>A (p.Pro568=) c.1656T>A (p.Pro552=) c.1515T>A (p.Pro505=) c.1500T>A (p.Pro500=) c.1359T>A (p.Pro453=) c.1170T>A (p.Pro390=) c.1155T>A (p.Pro385=) c.660T>A (p.Pro220=) c.471T>A (p.Pro157=) | |
10 | g.86716547T>C | CA470375397 | LDB3 | n.515-2180T>C c.1263T>C (p.Pro421=) c.1311T>C (p.Pro437=) c.1452T>C (p.Pro484=) c.1122T>C (p.Pro374=) c.1467T>C (p.Pro489=) c.1704T>C (p.Pro568=) c.1656T>C (p.Pro552=) c.1515T>C (p.Pro505=) c.1500T>C (p.Pro500=) c.1359T>C (p.Pro453=) c.1170T>C (p.Pro390=) c.1155T>C (p.Pro385=) c.660T>C (p.Pro220=) c.471T>C (p.Pro157=) | |
10 | g.86716547T>G | CA470375399 | LDB3 | n.515-2180T>G c.1263T>G (p.Pro421=) c.1311T>G (p.Pro437=) c.1452T>G (p.Pro484=) c.1122T>G (p.Pro374=) c.1467T>G (p.Pro489=) c.1704T>G (p.Pro568=) c.1656T>G (p.Pro552=) c.1515T>G (p.Pro505=) c.1500T>G (p.Pro500=) c.1359T>G (p.Pro453=) c.1170T>G (p.Pro390=) c.1155T>G (p.Pro385=) c.660T>G (p.Pro220=) c.471T>G (p.Pro157=) | |
10 | g.86716548G>A | CA377450779 | LDB3 | n.515-2179G>A c.1264G>A (p.Ala422Thr) c.1312G>A (p.Ala438Thr) c.1453G>A (p.Ala485Thr) c.1123G>A (p.Ala375Thr) c.1468G>A (p.Ala490Thr) c.1705G>A (p.Ala569Thr) c.1657G>A (p.Ala553Thr) c.1516G>A (p.Ala506Thr) c.1501G>A (p.Ala501Thr) c.1360G>A (p.Ala454Thr) c.1171G>A (p.Ala391Thr) c.1156G>A (p.Ala386Thr) c.661G>A (p.Ala221Thr) c.472G>A (p.Ala158Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86716548G>C | CA377450781 | LDB3 | n.515-2179G>C c.1264G>C (p.Ala422Pro) c.1312G>C (p.Ala438Pro) c.1453G>C (p.Ala485Pro) c.1123G>C (p.Ala375Pro) c.1468G>C (p.Ala490Pro) c.1705G>C (p.Ala569Pro) c.1657G>C (p.Ala553Pro) c.1516G>C (p.Ala506Pro) c.1501G>C (p.Ala501Pro) c.1360G>C (p.Ala454Pro) c.1171G>C (p.Ala391Pro) c.1156G>C (p.Ala386Pro) c.661G>C (p.Ala221Pro) c.472G>C (p.Ala158Pro) | |
10 | g.86716548G= | CA1925631930 | LDB3 | n.515-2179G= c.1264G= (p.Ala422=) c.1312G= (p.Ala438=) c.1453G= (p.Ala485=) c.1123G= (p.Ala375=) c.1468G= (p.Ala490=) c.1705G= (p.Ala569=) c.1657G= (p.Ala553=) c.1516G= (p.Ala506=) c.1501G= (p.Ala501=) c.1360G= (p.Ala454=) c.1171G= (p.Ala391=) c.1156G= (p.Ala386=) c.661G= (p.Ala221=) c.472G= (p.Ala158=) | |
10 | g.86716548G>T | CA136516 | LDB3 | n.515-2179G>T c.1264G>T (p.Ala422Ser) c.1312G>T (p.Ala438Ser) c.1453G>T (p.Ala485Ser) c.1123G>T (p.Ala375Ser) c.1468G>T (p.Ala490Ser) c.1705G>T (p.Ala569Ser) c.1657G>T (p.Ala553Ser) c.1516G>T (p.Ala506Ser) c.1501G>T (p.Ala501Ser) c.1360G>T (p.Ala454Ser) c.1171G>T (p.Ala391Ser) c.1156G>T (p.Ala386Ser) c.661G>T (p.Ala221Ser) c.472G>T (p.Ala158Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86716549C>A | CA377450785 | LDB3 | n.515-2178C>A c.1265C>A (p.Ala422Asp) c.1313C>A (p.Ala438Asp) c.1454C>A (p.Ala485Asp) c.1124C>A (p.Ala375Asp) c.1469C>A (p.Ala490Asp) c.1706C>A (p.Ala569Asp) c.1658C>A (p.Ala553Asp) c.1517C>A (p.Ala506Asp) c.1502C>A (p.Ala501Asp) c.1361C>A (p.Ala454Asp) c.1172C>A (p.Ala391Asp) c.1157C>A (p.Ala386Asp) c.662C>A (p.Ala221Asp) c.473C>A (p.Ala158Asp) | |
10 | g.86716549C>G | CA377450786 | LDB3 | n.515-2178C>G c.1265C>G (p.Ala422Gly) c.1313C>G (p.Ala438Gly) c.1454C>G (p.Ala485Gly) c.1124C>G (p.Ala375Gly) c.1469C>G (p.Ala490Gly) c.1706C>G (p.Ala569Gly) c.1658C>G (p.Ala553Gly) c.1517C>G (p.Ala506Gly) c.1502C>G (p.Ala501Gly) c.1361C>G (p.Ala454Gly) c.1172C>G (p.Ala391Gly) c.1157C>G (p.Ala386Gly) c.662C>G (p.Ala221Gly) c.473C>G (p.Ala158Gly) | |
10 | g.86716549C>T | CA377450789 | LDB3 | n.515-2178C>T c.1265C>T (p.Ala422Val) c.1313C>T (p.Ala438Val) c.1454C>T (p.Ala485Val) c.1124C>T (p.Ala375Val) c.1469C>T (p.Ala490Val) c.1706C>T (p.Ala569Val) c.1658C>T (p.Ala553Val) c.1517C>T (p.Ala506Val) c.1502C>T (p.Ala501Val) c.1361C>T (p.Ala454Val) c.1172C>T (p.Ala391Val) c.1157C>T (p.Ala386Val) c.662C>T (p.Ala221Val) c.473C>T (p.Ala158Val) | |
10 | g.86716550C>A | CA470375413 | LDB3 | n.515-2177C>A c.1266C>A (p.Ala422=) c.1314C>A (p.Ala438=) c.1455C>A (p.Ala485=) c.1125C>A (p.Ala375=) c.1470C>A (p.Ala490=) c.1707C>A (p.Ala569=) c.1659C>A (p.Ala553=) c.1518C>A (p.Ala506=) c.1503C>A (p.Ala501=) c.1362C>A (p.Ala454=) c.1173C>A (p.Ala391=) c.1158C>A (p.Ala386=) c.663C>A (p.Ala221=) c.474C>A (p.Ala158=) | |
10 | g.86716550C>G | CA470375415 | LDB3 | n.515-2177C>G c.1266C>G (p.Ala422=) c.1314C>G (p.Ala438=) c.1455C>G (p.Ala485=) c.1125C>G (p.Ala375=) c.1470C>G (p.Ala490=) c.1707C>G (p.Ala569=) c.1659C>G (p.Ala553=) c.1518C>G (p.Ala506=) c.1503C>G (p.Ala501=) c.1362C>G (p.Ala454=) c.1173C>G (p.Ala391=) c.1158C>G (p.Ala386=) c.663C>G (p.Ala221=) c.474C>G (p.Ala158=) | |
10 | g.86716550C>T | CA470375417 | LDB3 | n.515-2177C>T c.1266C>T (p.Ala422=) c.1314C>T (p.Ala438=) c.1455C>T (p.Ala485=) c.1125C>T (p.Ala375=) c.1470C>T (p.Ala490=) c.1707C>T (p.Ala569=) c.1659C>T (p.Ala553=) c.1518C>T (p.Ala506=) c.1503C>T (p.Ala501=) c.1362C>T (p.Ala454=) c.1173C>T (p.Ala391=) c.1158C>T (p.Ala386=) c.663C>T (p.Ala221=) c.474C>T (p.Ala158=) | |
10 | g.86716551A= | CA1925631931 | LDB3 | n.515-2176A= c.1267A= (p.Ser423=) c.1315A= (p.Ser439=) c.1456A= (p.Ser486=) c.1126A= (p.Ser376=) c.1471A= (p.Ser491=) c.1708A= (p.Ser570=) c.1660A= (p.Ser554=) c.1519A= (p.Ser507=) c.1504A= (p.Ser502=) c.1363A= (p.Ser455=) c.1174A= (p.Ser392=) c.1159A= (p.Ser387=) c.664A= (p.Ser222=) c.475A= (p.Ser159=) | |
10 | g.86716551A>C | CA377450797 | LDB3 | n.515-2176A>C c.1267A>C (p.Ser423Arg) c.1315A>C (p.Ser439Arg) c.1456A>C (p.Ser486Arg) c.1126A>C (p.Ser376Arg) c.1471A>C (p.Ser491Arg) c.1708A>C (p.Ser570Arg) c.1660A>C (p.Ser554Arg) c.1519A>C (p.Ser507Arg) c.1504A>C (p.Ser502Arg) c.1363A>C (p.Ser455Arg) c.1174A>C (p.Ser392Arg) c.1159A>C (p.Ser387Arg) c.664A>C (p.Ser222Arg) c.475A>C (p.Ser159Arg) | |
10 | g.86716551A>G | CA377450793 | LDB3 | n.515-2176A>G c.1267A>G (p.Ser423Gly) c.1315A>G (p.Ser439Gly) c.1456A>G (p.Ser486Gly) c.1126A>G (p.Ser376Gly) c.1471A>G (p.Ser491Gly) c.1708A>G (p.Ser570Gly) c.1660A>G (p.Ser554Gly) c.1519A>G (p.Ser507Gly) c.1504A>G (p.Ser502Gly) c.1363A>G (p.Ser455Gly) c.1174A>G (p.Ser392Gly) c.1159A>G (p.Ser387Gly) c.664A>G (p.Ser222Gly) c.475A>G (p.Ser159Gly) | |
10 | g.86716551A>T | CA377450796 | LDB3 | n.515-2176A>T c.1267A>T (p.Ser423Cys) c.1315A>T (p.Ser439Cys) c.1456A>T (p.Ser486Cys) c.1126A>T (p.Ser376Cys) c.1471A>T (p.Ser491Cys) c.1708A>T (p.Ser570Cys) c.1660A>T (p.Ser554Cys) c.1519A>T (p.Ser507Cys) c.1504A>T (p.Ser502Cys) c.1363A>T (p.Ser455Cys) c.1174A>T (p.Ser392Cys) c.1159A>T (p.Ser387Cys) c.664A>T (p.Ser222Cys) c.475A>T (p.Ser159Cys) | gnomAD v4 |
10 | g.86716552G>A | CA377450800 | LDB3 | n.515-2175G>A c.1268G>A (p.Ser423Asn) c.1316G>A (p.Ser439Asn) c.1457G>A (p.Ser486Asn) c.1127G>A (p.Ser376Asn) c.1472G>A (p.Ser491Asn) c.1709G>A (p.Ser570Asn) c.1661G>A (p.Ser554Asn) c.1520G>A (p.Ser507Asn) c.1505G>A (p.Ser502Asn) c.1364G>A (p.Ser455Asn) c.1175G>A (p.Ser392Asn) c.1160G>A (p.Ser387Asn) c.665G>A (p.Ser222Asn) c.476G>A (p.Ser159Asn) | gnomAD v4 |
10 | g.86716552G>C | CA377450802 | LDB3 | n.515-2175G>C c.1268G>C (p.Ser423Thr) c.1316G>C (p.Ser439Thr) c.1457G>C (p.Ser486Thr) c.1127G>C (p.Ser376Thr) c.1472G>C (p.Ser491Thr) c.1709G>C (p.Ser570Thr) c.1661G>C (p.Ser554Thr) c.1520G>C (p.Ser507Thr) c.1505G>C (p.Ser502Thr) c.1364G>C (p.Ser455Thr) c.1175G>C (p.Ser392Thr) c.1160G>C (p.Ser387Thr) c.665G>C (p.Ser222Thr) c.476G>C (p.Ser159Thr) | |
10 | g.86716552G>T | CA377450803 | LDB3 | n.515-2175G>T c.1268G>T (p.Ser423Ile) c.1316G>T (p.Ser439Ile) c.1457G>T (p.Ser486Ile) c.1127G>T (p.Ser376Ile) c.1472G>T (p.Ser491Ile) c.1709G>T (p.Ser570Ile) c.1661G>T (p.Ser554Ile) c.1520G>T (p.Ser507Ile) c.1505G>T (p.Ser502Ile) c.1364G>T (p.Ser455Ile) c.1175G>T (p.Ser392Ile) c.1160G>T (p.Ser387Ile) c.665G>T (p.Ser222Ile) c.476G>T (p.Ser159Ile) | |
10 | g.86716552dup | CA1139661540 | LDB3 | n.515-2175dup c.1268dup (p.Ser423ArgfsTer9) c.1316dup (p.Ser439ArgfsTer9) c.1457dup (p.Ser486ArgfsTer9) c.1127dup (p.Ser376ArgfsTer9) c.1472dup (p.Ser491ArgfsTer9) c.1709dup (p.Ser570ArgfsTer9) c.1661dup (p.Ser554ArgfsTer9) c.1520dup (p.Ser507ArgfsTer9) c.1505dup (p.Ser502ArgfsTer9) c.1364dup (p.Ser455ArgfsTer9) c.1175dup (p.Ser392ArgfsTer9) c.1160dup (p.Ser387ArgfsTer9) c.665dup (p.Ser222ArgfsTer9) c.476dup (p.Ser159ArgfsTer9) | ClinVar dbSNP |
10 | g.86716553C>A | CA377450804 | LDB3 | n.515-2174C>A c.1269C>A (p.Ser423Arg) c.1317C>A (p.Ser439Arg) c.1458C>A (p.Ser486Arg) c.1128C>A (p.Ser376Arg) c.1473C>A (p.Ser491Arg) c.1710C>A (p.Ser570Arg) c.1662C>A (p.Ser554Arg) c.1521C>A (p.Ser507Arg) c.1506C>A (p.Ser502Arg) c.1365C>A (p.Ser455Arg) c.1176C>A (p.Ser392Arg) c.1161C>A (p.Ser387Arg) c.666C>A (p.Ser222Arg) c.477C>A (p.Ser159Arg) | |
10 | g.86716553C>G | CA377450807 | LDB3 | n.515-2174C>G c.1269C>G (p.Ser423Arg) c.1317C>G (p.Ser439Arg) c.1458C>G (p.Ser486Arg) c.1128C>G (p.Ser376Arg) c.1473C>G (p.Ser491Arg) c.1710C>G (p.Ser570Arg) c.1662C>G (p.Ser554Arg) c.1521C>G (p.Ser507Arg) c.1506C>G (p.Ser502Arg) c.1365C>G (p.Ser455Arg) c.1176C>G (p.Ser392Arg) c.1161C>G (p.Ser387Arg) c.666C>G (p.Ser222Arg) c.477C>G (p.Ser159Arg) | |
10 | g.86716553C>T | CA470375435 | LDB3 | n.515-2174C>T c.1269C>T (p.Ser423=) c.1317C>T (p.Ser439=) c.1458C>T (p.Ser486=) c.1128C>T (p.Ser376=) c.1473C>T (p.Ser491=) c.1710C>T (p.Ser570=) c.1662C>T (p.Ser554=) c.1521C>T (p.Ser507=) c.1506C>T (p.Ser502=) c.1365C>T (p.Ser455=) c.1176C>T (p.Ser392=) c.1161C>T (p.Ser387=) c.666C>T (p.Ser222=) c.477C>T (p.Ser159=) | ClinVar dbSNP COSMIC COSMIC COSMIC |
10 | g.86716554del | CA2574457123 | LDB3 | n.515-2173del c.1270del (p.Arg424ValfsTer5) c.1318del (p.Arg440ValfsTer5) c.1459del (p.Arg487ValfsTer5) c.1129del (p.Arg377ValfsTer5) c.1474del (p.Arg492ValfsTer5) c.1711del (p.Arg571ValfsTer5) c.1663del (p.Arg555ValfsTer5) c.1522del (p.Arg508ValfsTer5) c.1507del (p.Arg503ValfsTer5) c.1366del (p.Arg456ValfsTer5) c.1177del (p.Arg393ValfsTer5) c.1162del (p.Arg388ValfsTer5) c.667del (p.Arg223ValfsTer5) c.478del (p.Arg160ValfsTer5) | |
10 | g.86716554C>A | CA377450810 | LDB3 | n.515-2173C>A c.1270C>A (p.Arg424Ser) c.1318C>A (p.Arg440Ser) c.1459C>A (p.Arg487Ser) c.1129C>A (p.Arg377Ser) c.1474C>A (p.Arg492Ser) c.1711C>A (p.Arg571Ser) c.1663C>A (p.Arg555Ser) c.1522C>A (p.Arg508Ser) c.1507C>A (p.Arg503Ser) c.1366C>A (p.Arg456Ser) c.1177C>A (p.Arg393Ser) c.1162C>A (p.Arg388Ser) c.667C>A (p.Arg223Ser) c.478C>A (p.Arg160Ser) | |
10 | g.86716554C= | CA1925631932 | LDB3 | n.515-2173C= c.1270C= (p.Arg424=) c.1318C= (p.Arg440=) c.1459C= (p.Arg487=) c.1129C= (p.Arg377=) c.1474C= (p.Arg492=) c.1711C= (p.Arg571=) c.1663C= (p.Arg555=) c.1522C= (p.Arg508=) c.1507C= (p.Arg503=) c.1366C= (p.Arg456=) c.1177C= (p.Arg393=) c.1162C= (p.Arg388=) c.667C= (p.Arg223=) c.478C= (p.Arg160=) | |
10 | g.86716554C>G | CA377450816 | LDB3 | n.515-2173C>G c.1270C>G (p.Arg424Gly) c.1318C>G (p.Arg440Gly) c.1459C>G (p.Arg487Gly) c.1129C>G (p.Arg377Gly) c.1474C>G (p.Arg492Gly) c.1711C>G (p.Arg571Gly) c.1663C>G (p.Arg555Gly) c.1522C>G (p.Arg508Gly) c.1507C>G (p.Arg503Gly) c.1366C>G (p.Arg456Gly) c.1177C>G (p.Arg393Gly) c.1162C>G (p.Arg388Gly) c.667C>G (p.Arg223Gly) c.478C>G (p.Arg160Gly) | |
10 | g.86716554C>T | CA211205381 | LDB3 | n.515-2173C>T c.1270C>T (p.Arg424Cys) c.1318C>T (p.Arg440Cys) c.1459C>T (p.Arg487Cys) c.1129C>T (p.Arg377Cys) c.1474C>T (p.Arg492Cys) c.1711C>T (p.Arg571Cys) c.1663C>T (p.Arg555Cys) c.1522C>T (p.Arg508Cys) c.1507C>T (p.Arg503Cys) c.1366C>T (p.Arg456Cys) c.1177C>T (p.Arg393Cys) c.1162C>T (p.Arg388Cys) c.667C>T (p.Arg223Cys) c.478C>T (p.Arg160Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.86716555G>A | CA136519 | LDB3 | n.515-2172G>A c.1271G>A (p.Arg424His) c.1319G>A (p.Arg440His) c.1460G>A (p.Arg487His) c.1130G>A (p.Arg377His) c.1475G>A (p.Arg492His) c.1712G>A (p.Arg571His) c.1664G>A (p.Arg555His) c.1523G>A (p.Arg508His) c.1508G>A (p.Arg503His) c.1367G>A (p.Arg456His) c.1178G>A (p.Arg393His) c.1163G>A (p.Arg388His) c.668G>A (p.Arg223His) c.479G>A (p.Arg160His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86716555G>C | CA377450823 | LDB3 | n.515-2172G>C c.1271G>C (p.Arg424Pro) c.1319G>C (p.Arg440Pro) c.1460G>C (p.Arg487Pro) c.1130G>C (p.Arg377Pro) c.1475G>C (p.Arg492Pro) c.1712G>C (p.Arg571Pro) c.1664G>C (p.Arg555Pro) c.1523G>C (p.Arg508Pro) c.1508G>C (p.Arg503Pro) c.1367G>C (p.Arg456Pro) c.1178G>C (p.Arg393Pro) c.1163G>C (p.Arg388Pro) c.668G>C (p.Arg223Pro) c.479G>C (p.Arg160Pro) | dbSNP |
10 | g.86716555G= | CA1925631933 | LDB3 | n.515-2172G= c.1271G= (p.Arg424=) c.1319G= (p.Arg440=) c.1460G= (p.Arg487=) c.1130G= (p.Arg377=) c.1475G= (p.Arg492=) c.1712G= (p.Arg571=) c.1664G= (p.Arg555=) c.1523G= (p.Arg508=) c.1508G= (p.Arg503=) c.1367G= (p.Arg456=) c.1178G= (p.Arg393=) c.1163G= (p.Arg388=) c.668G= (p.Arg223=) c.479G= (p.Arg160=) | |
10 | g.86716555G>T | CA377450832 | LDB3 | n.515-2172G>T c.1271G>T (p.Arg424Leu) c.1319G>T (p.Arg440Leu) c.1460G>T (p.Arg487Leu) c.1130G>T (p.Arg377Leu) c.1475G>T (p.Arg492Leu) c.1712G>T (p.Arg571Leu) c.1664G>T (p.Arg555Leu) c.1523G>T (p.Arg508Leu) c.1508G>T (p.Arg503Leu) c.1367G>T (p.Arg456Leu) c.1178G>T (p.Arg393Leu) c.1163G>T (p.Arg388Leu) c.668G>T (p.Arg223Leu) c.479G>T (p.Arg160Leu) | |
10 | g.86716556T>A | CA470375450 | LDB3 | n.515-2171T>A c.1272T>A (p.Arg424=) c.1320T>A (p.Arg440=) c.1461T>A (p.Arg487=) c.1131T>A (p.Arg377=) c.1476T>A (p.Arg492=) c.1713T>A (p.Arg571=) c.1665T>A (p.Arg555=) c.1524T>A (p.Arg508=) c.1509T>A (p.Arg503=) c.1368T>A (p.Arg456=) c.1179T>A (p.Arg393=) c.1164T>A (p.Arg388=) c.669T>A (p.Arg223=) c.480T>A (p.Arg160=) | dbSNP |
10 | g.86716556T>C | CA470375453 | LDB3 | n.515-2171T>C c.1272T>C (p.Arg424=) c.1320T>C (p.Arg440=) c.1461T>C (p.Arg487=) c.1131T>C (p.Arg377=) c.1476T>C (p.Arg492=) c.1713T>C (p.Arg571=) c.1665T>C (p.Arg555=) c.1524T>C (p.Arg508=) c.1509T>C (p.Arg503=) c.1368T>C (p.Arg456=) c.1179T>C (p.Arg393=) c.1164T>C (p.Arg388=) c.669T>C (p.Arg223=) c.480T>C (p.Arg160=) | |
10 | g.86716556T>G | CA470375456 | LDB3 | n.515-2171T>G c.1272T>G (p.Arg424=) c.1320T>G (p.Arg440=) c.1461T>G (p.Arg487=) c.1131T>G (p.Arg377=) c.1476T>G (p.Arg492=) c.1713T>G (p.Arg571=) c.1665T>G (p.Arg555=) c.1524T>G (p.Arg508=) c.1509T>G (p.Arg503=) c.1368T>G (p.Arg456=) c.1179T>G (p.Arg393=) c.1164T>G (p.Arg388=) c.669T>G (p.Arg223=) c.480T>G (p.Arg160=) | |
10 | g.86716556T= | CA1925631934 | LDB3 | n.515-2171T= c.1272T= (p.Arg424=) c.1320T= (p.Arg440=) c.1461T= (p.Arg487=) c.1131T= (p.Arg377=) c.1476T= (p.Arg492=) c.1713T= (p.Arg571=) c.1665T= (p.Arg555=) c.1524T= (p.Arg508=) c.1509T= (p.Arg503=) c.1368T= (p.Arg456=) c.1179T= (p.Arg393=) c.1164T= (p.Arg388=) c.669T= (p.Arg223=) c.480T= (p.Arg160=) | |
10 | g.86716557C>A | CA377450846 | LDB3 | n.515-2170C>A c.1273C>A (p.Pro425Thr) c.1321C>A (p.Pro441Thr) c.1462C>A (p.Pro488Thr) c.1132C>A (p.Pro378Thr) c.1477C>A (p.Pro493Thr) c.1714C>A (p.Pro572Thr) c.1666C>A (p.Pro556Thr) c.1525C>A (p.Pro509Thr) c.1510C>A (p.Pro504Thr) c.1369C>A (p.Pro457Thr) c.1180C>A (p.Pro394Thr) c.1165C>A (p.Pro389Thr) c.670C>A (p.Pro224Thr) c.481C>A (p.Pro161Thr) | |
10 | g.86716557C>G | CA377450845 | LDB3 | n.515-2170C>G c.1273C>G (p.Pro425Ala) c.1321C>G (p.Pro441Ala) c.1462C>G (p.Pro488Ala) c.1132C>G (p.Pro378Ala) c.1477C>G (p.Pro493Ala) c.1714C>G (p.Pro572Ala) c.1666C>G (p.Pro556Ala) c.1525C>G (p.Pro509Ala) c.1510C>G (p.Pro504Ala) c.1369C>G (p.Pro457Ala) c.1180C>G (p.Pro394Ala) c.1165C>G (p.Pro389Ala) c.670C>G (p.Pro224Ala) c.481C>G (p.Pro161Ala) | |
10 | g.86716557C>T | CA377450844 | LDB3 | n.515-2170C>T c.1273C>T (p.Pro425Ser) c.1321C>T (p.Pro441Ser) c.1462C>T (p.Pro488Ser) c.1132C>T (p.Pro378Ser) c.1477C>T (p.Pro493Ser) c.1714C>T (p.Pro572Ser) c.1666C>T (p.Pro556Ser) c.1525C>T (p.Pro509Ser) c.1510C>T (p.Pro504Ser) c.1369C>T (p.Pro457Ser) c.1180C>T (p.Pro394Ser) c.1165C>T (p.Pro389Ser) c.670C>T (p.Pro224Ser) c.481C>T (p.Pro161Ser) | |
10 | g.86716558C>A | CA377450847 | LDB3 | n.515-2169C>A c.1274C>A (p.Pro425Gln) c.1322C>A (p.Pro441Gln) c.1463C>A (p.Pro488Gln) c.1133C>A (p.Pro378Gln) c.1478C>A (p.Pro493Gln) c.1715C>A (p.Pro572Gln) c.1667C>A (p.Pro556Gln) c.1526C>A (p.Pro509Gln) c.1511C>A (p.Pro504Gln) c.1370C>A (p.Pro457Gln) c.1181C>A (p.Pro394Gln) c.1166C>A (p.Pro389Gln) c.671C>A (p.Pro224Gln) c.482C>A (p.Pro161Gln) | |
10 | g.86716558C= | CA1925631935 | LDB3 | n.515-2169C= c.1274C= (p.Pro425=) c.1322C= (p.Pro441=) c.1463C= (p.Pro488=) c.1133C= (p.Pro378=) c.1478C= (p.Pro493=) c.1715C= (p.Pro572=) c.1667C= (p.Pro556=) c.1526C= (p.Pro509=) c.1511C= (p.Pro504=) c.1370C= (p.Pro457=) c.1181C= (p.Pro394=) c.1166C= (p.Pro389=) c.671C= (p.Pro224=) c.482C= (p.Pro161=) | |
10 | g.86716558C>G | CA377450848 | LDB3 | n.515-2169C>G c.1274C>G (p.Pro425Arg) c.1322C>G (p.Pro441Arg) c.1463C>G (p.Pro488Arg) c.1133C>G (p.Pro378Arg) c.1478C>G (p.Pro493Arg) c.1715C>G (p.Pro572Arg) c.1667C>G (p.Pro556Arg) c.1526C>G (p.Pro509Arg) c.1511C>G (p.Pro504Arg) c.1370C>G (p.Pro457Arg) c.1181C>G (p.Pro394Arg) c.1166C>G (p.Pro389Arg) c.671C>G (p.Pro224Arg) c.482C>G (p.Pro161Arg) | |
10 | g.86716558C>T | CA377450850 | LDB3 | n.515-2169C>T c.1274C>T (p.Pro425Leu) c.1322C>T (p.Pro441Leu) c.1463C>T (p.Pro488Leu) c.1133C>T (p.Pro378Leu) c.1478C>T (p.Pro493Leu) c.1715C>T (p.Pro572Leu) c.1667C>T (p.Pro556Leu) c.1526C>T (p.Pro509Leu) c.1511C>T (p.Pro504Leu) c.1370C>T (p.Pro457Leu) c.1181C>T (p.Pro394Leu) c.1166C>T (p.Pro389Leu) c.671C>T (p.Pro224Leu) c.482C>T (p.Pro161Leu) | dbSNP |
10 | g.86716559A>C | CA470375467 | LDB3 | n.515-2168A>C c.1275A>C (p.Pro425=) c.1323A>C (p.Pro441=) c.1464A>C (p.Pro488=) c.1134A>C (p.Pro378=) c.1479A>C (p.Pro493=) c.1716A>C (p.Pro572=) c.1668A>C (p.Pro556=) c.1527A>C (p.Pro509=) c.1512A>C (p.Pro504=) c.1371A>C (p.Pro457=) c.1182A>C (p.Pro394=) c.1167A>C (p.Pro389=) c.672A>C (p.Pro224=) c.483A>C (p.Pro161=) | |
10 | g.86716559A>G | CA470375471 | LDB3 | n.515-2168A>G c.1275A>G (p.Pro425=) c.1323A>G (p.Pro441=) c.1464A>G (p.Pro488=) c.1134A>G (p.Pro378=) c.1479A>G (p.Pro493=) c.1716A>G (p.Pro572=) c.1668A>G (p.Pro556=) c.1527A>G (p.Pro509=) c.1512A>G (p.Pro504=) c.1371A>G (p.Pro457=) c.1182A>G (p.Pro394=) c.1167A>G (p.Pro389=) c.672A>G (p.Pro224=) c.483A>G (p.Pro161=) | gnomAD v4 |
10 | g.86716559A>T | CA470375470 | LDB3 | n.515-2168A>T c.1275A>T (p.Pro425=) c.1323A>T (p.Pro441=) c.1464A>T (p.Pro488=) c.1134A>T (p.Pro378=) c.1479A>T (p.Pro493=) c.1716A>T (p.Pro572=) c.1668A>T (p.Pro556=) c.1527A>T (p.Pro509=) c.1512A>T (p.Pro504=) c.1371A>T (p.Pro457=) c.1182A>T (p.Pro394=) c.1167A>T (p.Pro389=) c.672A>T (p.Pro224=) c.483A>T (p.Pro161=) | |
10 | g.86716560C>A | CA377450852 | LDB3 | n.515-2167C>A c.1276C>A (p.Pro426Thr) c.1324C>A (p.Pro442Thr) c.1465C>A (p.Pro489Thr) c.1135C>A (p.Pro379Thr) c.1480C>A (p.Pro494Thr) c.1717C>A (p.Pro573Thr) c.1669C>A (p.Pro557Thr) c.1528C>A (p.Pro510Thr) c.1513C>A (p.Pro505Thr) c.1372C>A (p.Pro458Thr) c.1183C>A (p.Pro395Thr) c.1168C>A (p.Pro390Thr) c.673C>A (p.Pro225Thr) c.484C>A (p.Pro162Thr) | |
10 | g.86716560C= | CA1925631936 | LDB3 | n.515-2167C= c.1276C= (p.Pro426=) c.1324C= (p.Pro442=) c.1465C= (p.Pro489=) c.1135C= (p.Pro379=) c.1480C= (p.Pro494=) c.1717C= (p.Pro573=) c.1669C= (p.Pro557=) c.1528C= (p.Pro510=) c.1513C= (p.Pro505=) c.1372C= (p.Pro458=) c.1183C= (p.Pro395=) c.1168C= (p.Pro390=) c.673C= (p.Pro225=) c.484C= (p.Pro162=) | |
10 | g.86716560C>G | CA377450854 | LDB3 | n.515-2167C>G c.1276C>G (p.Pro426Ala) c.1324C>G (p.Pro442Ala) c.1465C>G (p.Pro489Ala) c.1135C>G (p.Pro379Ala) c.1480C>G (p.Pro494Ala) c.1717C>G (p.Pro573Ala) c.1669C>G (p.Pro557Ala) c.1528C>G (p.Pro510Ala) c.1513C>G (p.Pro505Ala) c.1372C>G (p.Pro458Ala) c.1183C>G (p.Pro395Ala) c.1168C>G (p.Pro390Ala) c.673C>G (p.Pro225Ala) c.484C>G (p.Pro162Ala) | |
10 | g.86716560C>T | CA5585166 | LDB3 | n.515-2167C>T c.1276C>T (p.Pro426Ser) c.1324C>T (p.Pro442Ser) c.1465C>T (p.Pro489Ser) c.1135C>T (p.Pro379Ser) c.1480C>T (p.Pro494Ser) c.1717C>T (p.Pro573Ser) c.1669C>T (p.Pro557Ser) c.1528C>T (p.Pro510Ser) c.1513C>T (p.Pro505Ser) c.1372C>T (p.Pro458Ser) c.1183C>T (p.Pro395Ser) c.1168C>T (p.Pro390Ser) c.673C>T (p.Pro225Ser) c.484C>T (p.Pro162Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.86716561C>A | CA377450858 | LDB3 | n.515-2166C>A c.1277C>A (p.Pro426His) c.1325C>A (p.Pro442His) c.1466C>A (p.Pro489His) c.1136C>A (p.Pro379His) c.1481C>A (p.Pro494His) c.1718C>A (p.Pro573His) c.1670C>A (p.Pro557His) c.1529C>A (p.Pro510His) c.1514C>A (p.Pro505His) c.1373C>A (p.Pro458His) c.1184C>A (p.Pro395His) c.1169C>A (p.Pro390His) c.674C>A (p.Pro225His) c.485C>A (p.Pro162His) | gnomAD v4 |
10 | g.86716561C>G | CA377450859 | LDB3 | n.515-2166C>G c.1277C>G (p.Pro426Arg) c.1325C>G (p.Pro442Arg) c.1466C>G (p.Pro489Arg) c.1136C>G (p.Pro379Arg) c.1481C>G (p.Pro494Arg) c.1718C>G (p.Pro573Arg) c.1670C>G (p.Pro557Arg) c.1529C>G (p.Pro510Arg) c.1514C>G (p.Pro505Arg) c.1373C>G (p.Pro458Arg) c.1184C>G (p.Pro395Arg) c.1169C>G (p.Pro390Arg) c.674C>G (p.Pro225Arg) c.485C>G (p.Pro162Arg) | ClinVar |
10 | g.86716561C>T | CA377450860 | LDB3 | n.515-2166C>T c.1277C>T (p.Pro426Leu) c.1325C>T (p.Pro442Leu) c.1466C>T (p.Pro489Leu) c.1136C>T (p.Pro379Leu) c.1481C>T (p.Pro494Leu) c.1718C>T (p.Pro573Leu) c.1670C>T (p.Pro557Leu) c.1529C>T (p.Pro510Leu) c.1514C>T (p.Pro505Leu) c.1373C>T (p.Pro458Leu) c.1184C>T (p.Pro395Leu) c.1169C>T (p.Pro390Leu) c.674C>T (p.Pro225Leu) c.485C>T (p.Pro162Leu) | gnomAD v4 |
10 | g.86716562C>A | CA470375486 | LDB3 | n.515-2165C>A c.1278C>A (p.Pro426=) c.1326C>A (p.Pro442=) c.1467C>A (p.Pro489=) c.1137C>A (p.Pro379=) c.1482C>A (p.Pro494=) c.1719C>A (p.Pro573=) c.1671C>A (p.Pro557=) c.1530C>A (p.Pro510=) c.1515C>A (p.Pro505=) c.1374C>A (p.Pro458=) c.1185C>A (p.Pro395=) c.1170C>A (p.Pro390=) c.675C>A (p.Pro225=) c.486C>A (p.Pro162=) | gnomAD v4 |
10 | g.86716562C= | CA1925631937 | LDB3 | n.515-2165C= c.1278C= (p.Pro426=) c.1326C= (p.Pro442=) c.1467C= (p.Pro489=) c.1137C= (p.Pro379=) c.1482C= (p.Pro494=) c.1719C= (p.Pro573=) c.1671C= (p.Pro557=) c.1530C= (p.Pro510=) c.1515C= (p.Pro505=) c.1374C= (p.Pro458=) c.1185C= (p.Pro395=) c.1170C= (p.Pro390=) c.675C= (p.Pro225=) c.486C= (p.Pro162=) | |
10 | g.86716562C>G | CA470375491 | LDB3 | n.515-2165C>G c.1278C>G (p.Pro426=) c.1326C>G (p.Pro442=) c.1467C>G (p.Pro489=) c.1137C>G (p.Pro379=) c.1482C>G (p.Pro494=) c.1719C>G (p.Pro573=) c.1671C>G (p.Pro557=) c.1530C>G (p.Pro510=) c.1515C>G (p.Pro505=) c.1374C>G (p.Pro458=) c.1185C>G (p.Pro395=) c.1170C>G (p.Pro390=) c.675C>G (p.Pro225=) c.486C>G (p.Pro162=) | |
10 | g.86716562C>T | CA211205416 | LDB3 | n.515-2165C>T c.1278C>T (p.Pro426=) c.1326C>T (p.Pro442=) c.1467C>T (p.Pro489=) c.1137C>T (p.Pro379=) c.1482C>T (p.Pro494=) c.1719C>T (p.Pro573=) c.1671C>T (p.Pro557=) c.1530C>T (p.Pro510=) c.1515C>T (p.Pro505=) c.1374C>T (p.Pro458=) c.1185C>T (p.Pro395=) c.1170C>T (p.Pro390=) c.675C>T (p.Pro225=) c.486C>T (p.Pro162=) | dbSNP |
10 | g.86716563T>A | CA377450862 | LDB3 | n.515-2164T>A c.1279T>A (p.Trp427Arg) c.1327T>A (p.Trp443Arg) c.1468T>A (p.Trp490Arg) c.1138T>A (p.Trp380Arg) c.1483T>A (p.Trp495Arg) c.1720T>A (p.Trp574Arg) c.1672T>A (p.Trp558Arg) c.1531T>A (p.Trp511Arg) c.1516T>A (p.Trp506Arg) c.1375T>A (p.Trp459Arg) c.1186T>A (p.Trp396Arg) c.1171T>A (p.Trp391Arg) c.676T>A (p.Trp226Arg) c.487T>A (p.Trp163Arg) | |
10 | g.86716563T>C | CA377450864 | LDB3 | n.515-2164T>C c.1279T>C (p.Trp427Arg) c.1327T>C (p.Trp443Arg) c.1468T>C (p.Trp490Arg) c.1138T>C (p.Trp380Arg) c.1483T>C (p.Trp495Arg) c.1720T>C (p.Trp574Arg) c.1672T>C (p.Trp558Arg) c.1531T>C (p.Trp511Arg) c.1516T>C (p.Trp506Arg) c.1375T>C (p.Trp459Arg) c.1186T>C (p.Trp396Arg) c.1171T>C (p.Trp391Arg) c.676T>C (p.Trp226Arg) c.487T>C (p.Trp163Arg) | ClinVar dbSNP gnomAD v4 |
10 | g.86716563T>G | CA377450866 | LDB3 | n.515-2164T>G c.1279T>G (p.Trp427Gly) c.1327T>G (p.Trp443Gly) c.1468T>G (p.Trp490Gly) c.1138T>G (p.Trp380Gly) c.1483T>G (p.Trp495Gly) c.1720T>G (p.Trp574Gly) c.1672T>G (p.Trp558Gly) c.1531T>G (p.Trp511Gly) c.1516T>G (p.Trp506Gly) c.1375T>G (p.Trp459Gly) c.1186T>G (p.Trp396Gly) c.1171T>G (p.Trp391Gly) c.676T>G (p.Trp226Gly) c.487T>G (p.Trp163Gly) | gnomAD v4 |
10 | g.86716563T= | CA1925631938 | LDB3 | n.515-2164T= c.1279T= (p.Trp427=) c.1327T= (p.Trp443=) c.1468T= (p.Trp490=) c.1138T= (p.Trp380=) c.1483T= (p.Trp495=) c.1720T= (p.Trp574=) c.1672T= (p.Trp558=) c.1531T= (p.Trp511=) c.1516T= (p.Trp506=) c.1375T= (p.Trp459=) c.1186T= (p.Trp396=) c.1171T= (p.Trp391=) c.676T= (p.Trp226=) c.487T= (p.Trp163=) | |
10 | g.86716564G>A | CA377450873 | LDB3 | n.515-2163G>A c.1280G>A (p.Trp427Ter) c.1328G>A (p.Trp443Ter) c.1469G>A (p.Trp490Ter) c.1139G>A (p.Trp380Ter) c.1484G>A (p.Trp495Ter) c.1721G>A (p.Trp574Ter) c.1673G>A (p.Trp558Ter) c.1532G>A (p.Trp511Ter) c.1517G>A (p.Trp506Ter) c.1376G>A (p.Trp459Ter) c.1187G>A (p.Trp396Ter) c.1172G>A (p.Trp391Ter) c.677G>A (p.Trp226Ter) c.488G>A (p.Trp163Ter) | gnomAD v4 |
10 | g.86716564G>C | CA377450869 | LDB3 | n.515-2163G>C c.1280G>C (p.Trp427Ser) c.1328G>C (p.Trp443Ser) c.1469G>C (p.Trp490Ser) c.1139G>C (p.Trp380Ser) c.1484G>C (p.Trp495Ser) c.1721G>C (p.Trp574Ser) c.1673G>C (p.Trp558Ser) c.1532G>C (p.Trp511Ser) c.1517G>C (p.Trp506Ser) c.1376G>C (p.Trp459Ser) c.1187G>C (p.Trp396Ser) c.1172G>C (p.Trp391Ser) c.677G>C (p.Trp226Ser) c.488G>C (p.Trp163Ser) | |
10 | g.86716564G>T | CA377450871 | LDB3 | n.515-2163G>T c.1280G>T (p.Trp427Leu) c.1328G>T (p.Trp443Leu) c.1469G>T (p.Trp490Leu) c.1139G>T (p.Trp380Leu) c.1484G>T (p.Trp495Leu) c.1721G>T (p.Trp574Leu) c.1673G>T (p.Trp558Leu) c.1532G>T (p.Trp511Leu) c.1517G>T (p.Trp506Leu) c.1376G>T (p.Trp459Leu) c.1187G>T (p.Trp396Leu) c.1172G>T (p.Trp391Leu) c.677G>T (p.Trp226Leu) c.488G>T (p.Trp163Leu) | |
10 | g.86716565G>A | CA377450883 | LDB3 | n.515-2162G>A c.1281G>A (p.Trp427Ter) c.1329G>A (p.Trp443Ter) c.1470G>A (p.Trp490Ter) c.1140G>A (p.Trp380Ter) c.1485G>A (p.Trp495Ter) c.1722G>A (p.Trp574Ter) c.1674G>A (p.Trp558Ter) c.1533G>A (p.Trp511Ter) c.1518G>A (p.Trp506Ter) c.1377G>A (p.Trp459Ter) c.1188G>A (p.Trp396Ter) c.1173G>A (p.Trp391Ter) c.678G>A (p.Trp226Ter) c.489G>A (p.Trp163Ter) | |
10 | g.86716565G>C | CA377450886 | LDB3 | n.515-2162G>C c.1281G>C (p.Trp427Cys) c.1329G>C (p.Trp443Cys) c.1470G>C (p.Trp490Cys) c.1140G>C (p.Trp380Cys) c.1485G>C (p.Trp495Cys) c.1722G>C (p.Trp574Cys) c.1674G>C (p.Trp558Cys) c.1533G>C (p.Trp511Cys) c.1518G>C (p.Trp506Cys) c.1377G>C (p.Trp459Cys) c.1188G>C (p.Trp396Cys) c.1173G>C (p.Trp391Cys) c.678G>C (p.Trp226Cys) c.489G>C (p.Trp163Cys) | |
10 | g.86716565G>T | CA377450888 | LDB3 | n.515-2162G>T c.1281G>T (p.Trp427Cys) c.1329G>T (p.Trp443Cys) c.1470G>T (p.Trp490Cys) c.1140G>T (p.Trp380Cys) c.1485G>T (p.Trp495Cys) c.1722G>T (p.Trp574Cys) c.1674G>T (p.Trp558Cys) c.1533G>T (p.Trp511Cys) c.1518G>T (p.Trp506Cys) c.1377G>T (p.Trp459Cys) c.1188G>T (p.Trp396Cys) c.1173G>T (p.Trp391Cys) c.678G>T (p.Trp226Cys) c.489G>T (p.Trp163Cys) | |
10 | g.86716566G>A | CA5585167 | LDB3 | n.515-2161G>A c.1282G>A (p.Val428Met) c.1330G>A (p.Val444Met) c.1471G>A (p.Val491Met) c.1141G>A (p.Val381Met) c.1486G>A (p.Val496Met) c.1723G>A (p.Val575Met) c.1675G>A (p.Val559Met) c.1534G>A (p.Val512Met) c.1519G>A (p.Val507Met) c.1378G>A (p.Val460Met) c.1189G>A (p.Val397Met) c.1174G>A (p.Val392Met) c.679G>A (p.Val227Met) c.490G>A (p.Val164Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86716566G>C | CA377450892 | LDB3 | n.515-2161G>C c.1282G>C (p.Val428Leu) c.1330G>C (p.Val444Leu) c.1471G>C (p.Val491Leu) c.1141G>C (p.Val381Leu) c.1486G>C (p.Val496Leu) c.1723G>C (p.Val575Leu) c.1675G>C (p.Val559Leu) c.1534G>C (p.Val512Leu) c.1519G>C (p.Val507Leu) c.1378G>C (p.Val460Leu) c.1189G>C (p.Val397Leu) c.1174G>C (p.Val392Leu) c.679G>C (p.Val227Leu) c.490G>C (p.Val164Leu) | |
10 | g.86716566G= | CA1925631939 | LDB3 | n.515-2161G= c.1282G= (p.Val428=) c.1330G= (p.Val444=) c.1471G= (p.Val491=) c.1141G= (p.Val381=) c.1486G= (p.Val496=) c.1723G= (p.Val575=) c.1675G= (p.Val559=) c.1534G= (p.Val512=) c.1519G= (p.Val507=) c.1378G= (p.Val460=) c.1189G= (p.Val397=) c.1174G= (p.Val392=) c.679G= (p.Val227=) c.490G= (p.Val164=) | |
10 | g.86716566G>T | CA136523 | LDB3 | n.515-2161G>T c.1282G>T (p.Val428Leu) c.1330G>T (p.Val444Leu) c.1471G>T (p.Val491Leu) c.1141G>T (p.Val381Leu) c.1486G>T (p.Val496Leu) c.1723G>T (p.Val575Leu) c.1675G>T (p.Val559Leu) c.1534G>T (p.Val512Leu) c.1519G>T (p.Val507Leu) c.1378G>T (p.Val460Leu) c.1189G>T (p.Val397Leu) c.1174G>T (p.Val392Leu) c.679G>T (p.Val227Leu) c.490G>T (p.Val164Leu) | ClinVar dbSNP |
10 | g.86716567T>A | CA136526 | LDB3 | n.515-2160T>A c.1283T>A (p.Val428Glu) c.1331T>A (p.Val444Glu) c.1472T>A (p.Val491Glu) c.1142T>A (p.Val381Glu) c.1487T>A (p.Val496Glu) c.1724T>A (p.Val575Glu) c.1676T>A (p.Val559Glu) c.1535T>A (p.Val512Glu) c.1520T>A (p.Val507Glu) c.1379T>A (p.Val460Glu) c.1190T>A (p.Val397Glu) c.1175T>A (p.Val392Glu) c.680T>A (p.Val227Glu) c.491T>A (p.Val164Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86716567T>C | CA377450894 | LDB3 | n.515-2160T>C c.1283T>C (p.Val428Ala) c.1331T>C (p.Val444Ala) c.1472T>C (p.Val491Ala) c.1142T>C (p.Val381Ala) c.1487T>C (p.Val496Ala) c.1724T>C (p.Val575Ala) c.1676T>C (p.Val559Ala) c.1535T>C (p.Val512Ala) c.1520T>C (p.Val507Ala) c.1379T>C (p.Val460Ala) c.1190T>C (p.Val397Ala) c.1175T>C (p.Val392Ala) c.680T>C (p.Val227Ala) c.491T>C (p.Val164Ala) | |
10 | g.86716567T>G | CA377450903 | LDB3 | n.515-2160T>G c.1283T>G (p.Val428Gly) c.1331T>G (p.Val444Gly) c.1472T>G (p.Val491Gly) c.1142T>G (p.Val381Gly) c.1487T>G (p.Val496Gly) c.1724T>G (p.Val575Gly) c.1676T>G (p.Val559Gly) c.1535T>G (p.Val512Gly) c.1520T>G (p.Val507Gly) c.1379T>G (p.Val460Gly) c.1190T>G (p.Val397Gly) c.1175T>G (p.Val392Gly) c.680T>G (p.Val227Gly) c.491T>G (p.Val164Gly) | dbSNP |
10 | g.86716567T= | CA1925631940 | LDB3 | n.515-2160T= c.1283T= (p.Val428=) c.1331T= (p.Val444=) c.1472T= (p.Val491=) c.1142T= (p.Val381=) c.1487T= (p.Val496=) c.1724T= (p.Val575=) c.1676T= (p.Val559=) c.1535T= (p.Val512=) c.1520T= (p.Val507=) c.1379T= (p.Val460=) c.1190T= (p.Val397=) c.1175T= (p.Val392=) c.680T= (p.Val227=) c.491T= (p.Val164=) | |
10 | g.86716568G>A | CA470375522 | LDB3 | n.515-2159G>A c.1284G>A (p.Val428=) c.1332G>A (p.Val444=) c.1473G>A (p.Val491=) c.1143G>A (p.Val381=) c.1488G>A (p.Val496=) c.1725G>A (p.Val575=) c.1677G>A (p.Val559=) c.1536G>A (p.Val512=) c.1521G>A (p.Val507=) c.1380G>A (p.Val460=) c.1191G>A (p.Val397=) c.1176G>A (p.Val392=) c.681G>A (p.Val227=) c.492G>A (p.Val164=) | |
10 | g.86716568G>C | CA470375524 | LDB3 | n.515-2159G>C c.1284G>C (p.Val428=) c.1332G>C (p.Val444=) c.1473G>C (p.Val491=) c.1143G>C (p.Val381=) c.1488G>C (p.Val496=) c.1725G>C (p.Val575=) c.1677G>C (p.Val559=) c.1536G>C (p.Val512=) c.1521G>C (p.Val507=) c.1380G>C (p.Val460=) c.1191G>C (p.Val397=) c.1176G>C (p.Val392=) c.681G>C (p.Val227=) c.492G>C (p.Val164=) | |
10 | g.86716568G>T | CA470375529 | LDB3 | n.515-2159G>T c.1284G>T (p.Val428=) c.1332G>T (p.Val444=) c.1473G>T (p.Val491=) c.1143G>T (p.Val381=) c.1488G>T (p.Val496=) c.1725G>T (p.Val575=) c.1677G>T (p.Val559=) c.1536G>T (p.Val512=) c.1521G>T (p.Val507=) c.1380G>T (p.Val460=) c.1191G>T (p.Val397=) c.1176G>T (p.Val392=) c.681G>T (p.Val227=) c.492G>T (p.Val164=) | |
10 | g.86716569A>C | CA377450906 | LDB3 | n.515-2158A>C c.1285A>C (p.Thr429Pro) c.1333A>C (p.Thr445Pro) c.1474A>C (p.Thr492Pro) c.1144A>C (p.Thr382Pro) c.1489A>C (p.Thr497Pro) c.1726A>C (p.Thr576Pro) c.1678A>C (p.Thr560Pro) c.1537A>C (p.Thr513Pro) c.1522A>C (p.Thr508Pro) c.1381A>C (p.Thr461Pro) c.1192A>C (p.Thr398Pro) c.1177A>C (p.Thr393Pro) c.682A>C (p.Thr228Pro) c.493A>C (p.Thr165Pro) | |
10 | g.86716569A>G | CA377450907 | LDB3 | n.515-2158A>G c.1285A>G (p.Thr429Ala) c.1333A>G (p.Thr445Ala) c.1474A>G (p.Thr492Ala) c.1144A>G (p.Thr382Ala) c.1489A>G (p.Thr497Ala) c.1726A>G (p.Thr576Ala) c.1678A>G (p.Thr560Ala) c.1537A>G (p.Thr513Ala) c.1522A>G (p.Thr508Ala) c.1381A>G (p.Thr461Ala) c.1192A>G (p.Thr398Ala) c.1177A>G (p.Thr393Ala) c.682A>G (p.Thr228Ala) c.493A>G (p.Thr165Ala) | |
10 | g.86716569A>T | CA377450913 | LDB3 | n.515-2158A>T c.1285A>T (p.Thr429Ser) c.1333A>T (p.Thr445Ser) c.1474A>T (p.Thr492Ser) c.1144A>T (p.Thr382Ser) c.1489A>T (p.Thr497Ser) c.1726A>T (p.Thr576Ser) c.1678A>T (p.Thr560Ser) c.1537A>T (p.Thr513Ser) c.1522A>T (p.Thr508Ser) c.1381A>T (p.Thr461Ser) c.1192A>T (p.Thr398Ser) c.1177A>T (p.Thr393Ser) c.682A>T (p.Thr228Ser) c.493A>T (p.Thr165Ser) | |
10 | g.86716570C>A | CA377450919 | LDB3 | n.515-2157C>A c.1286C>A (p.Thr429Lys) c.1334C>A (p.Thr445Lys) c.1475C>A (p.Thr492Lys) c.1145C>A (p.Thr382Lys) c.1490C>A (p.Thr497Lys) c.1727C>A (p.Thr576Lys) c.1679C>A (p.Thr560Lys) c.1538C>A (p.Thr513Lys) c.1523C>A (p.Thr508Lys) c.1382C>A (p.Thr461Lys) c.1193C>A (p.Thr398Lys) c.1178C>A (p.Thr393Lys) c.683C>A (p.Thr228Lys) c.494C>A (p.Thr165Lys) | ClinVar |
10 | g.86716570C= | CA1925631941 | LDB3 | n.515-2157C= c.1286C= (p.Thr429=) c.1334C= (p.Thr445=) c.1475C= (p.Thr492=) c.1145C= (p.Thr382=) c.1490C= (p.Thr497=) c.1727C= (p.Thr576=) c.1679C= (p.Thr560=) c.1538C= (p.Thr513=) c.1523C= (p.Thr508=) c.1382C= (p.Thr461=) c.1193C= (p.Thr398=) c.1178C= (p.Thr393=) c.683C= (p.Thr228=) c.494C= (p.Thr165=) | |
10 | g.86716570C>G | CA377450918 | LDB3 | n.515-2157C>G c.1286C>G (p.Thr429Arg) c.1334C>G (p.Thr445Arg) c.1475C>G (p.Thr492Arg) c.1145C>G (p.Thr382Arg) c.1490C>G (p.Thr497Arg) c.1727C>G (p.Thr576Arg) c.1679C>G (p.Thr560Arg) c.1538C>G (p.Thr513Arg) c.1523C>G (p.Thr508Arg) c.1382C>G (p.Thr461Arg) c.1193C>G (p.Thr398Arg) c.1178C>G (p.Thr393Arg) c.683C>G (p.Thr228Arg) c.494C>G (p.Thr165Arg) | |
10 | g.86716570C>T | CA136530 | LDB3 | n.515-2157C>T c.1286C>T (p.Thr429Ile) c.1334C>T (p.Thr445Ile) c.1475C>T (p.Thr492Ile) c.1145C>T (p.Thr382Ile) c.1490C>T (p.Thr497Ile) c.1727C>T (p.Thr576Ile) c.1679C>T (p.Thr560Ile) c.1538C>T (p.Thr513Ile) c.1523C>T (p.Thr508Ile) c.1382C>T (p.Thr461Ile) c.1193C>T (p.Thr398Ile) c.1178C>T (p.Thr393Ile) c.683C>T (p.Thr228Ile) c.494C>T (p.Thr165Ile) | ClinVar dbSNP gnomAD v4 |
10 | g.86716571A>C | CA470375544 | LDB3 | n.515-2156A>C c.1287A>C (p.Thr429=) c.1335A>C (p.Thr445=) c.1476A>C (p.Thr492=) c.1146A>C (p.Thr382=) c.1491A>C (p.Thr497=) c.1728A>C (p.Thr576=) c.1680A>C (p.Thr560=) c.1539A>C (p.Thr513=) c.1524A>C (p.Thr508=) c.1383A>C (p.Thr461=) c.1194A>C (p.Thr398=) c.1179A>C (p.Thr393=) c.684A>C (p.Thr228=) c.495A>C (p.Thr165=) | |
10 | g.86716571A>G | CA470375547 | LDB3 | n.515-2156A>G c.1287A>G (p.Thr429=) c.1335A>G (p.Thr445=) c.1476A>G (p.Thr492=) c.1146A>G (p.Thr382=) c.1491A>G (p.Thr497=) c.1728A>G (p.Thr576=) c.1680A>G (p.Thr560=) c.1539A>G (p.Thr513=) c.1524A>G (p.Thr508=) c.1383A>G (p.Thr461=) c.1194A>G (p.Thr398=) c.1179A>G (p.Thr393=) c.684A>G (p.Thr228=) c.495A>G (p.Thr165=) | |
10 | g.86716571A>T | CA470375550 | LDB3 | n.515-2156A>T c.1287A>T (p.Thr429=) c.1335A>T (p.Thr445=) c.1476A>T (p.Thr492=) c.1146A>T (p.Thr382=) c.1491A>T (p.Thr497=) c.1728A>T (p.Thr576=) c.1680A>T (p.Thr560=) c.1539A>T (p.Thr513=) c.1524A>T (p.Thr508=) c.1383A>T (p.Thr461=) c.1194A>T (p.Thr398=) c.1179A>T (p.Thr393=) c.684A>T (p.Thr228=) c.495A>T (p.Thr165=) | |
10 | g.86716572G>A | CA377450923 | LDB3 | n.515-2155G>A c.1288G>A (p.Asp430Asn) c.1336G>A (p.Asp446Asn) c.1477G>A (p.Asp493Asn) c.1147G>A (p.Asp383Asn) c.1492G>A (p.Asp498Asn) c.1729G>A (p.Asp577Asn) c.1681G>A (p.Asp561Asn) c.1540G>A (p.Asp514Asn) c.1525G>A (p.Asp509Asn) c.1384G>A (p.Asp462Asn) c.1195G>A (p.Asp399Asn) c.1180G>A (p.Asp394Asn) c.685G>A (p.Asp229Asn) c.496G>A (p.Asp166Asn) | |
10 | g.86716572G>C | CA377450921 | LDB3 | n.515-2155G>C c.1288G>C (p.Asp430His) c.1336G>C (p.Asp446His) c.1477G>C (p.Asp493His) c.1147G>C (p.Asp383His) c.1492G>C (p.Asp498His) c.1729G>C (p.Asp577His) c.1681G>C (p.Asp561His) c.1540G>C (p.Asp514His) c.1525G>C (p.Asp509His) c.1384G>C (p.Asp462His) c.1195G>C (p.Asp399His) c.1180G>C (p.Asp394His) c.685G>C (p.Asp229His) c.496G>C (p.Asp166His) | |
10 | g.86716572G>T | CA377450924 | LDB3 | n.515-2155G>T c.1288G>T (p.Asp430Tyr) c.1336G>T (p.Asp446Tyr) c.1477G>T (p.Asp493Tyr) c.1147G>T (p.Asp383Tyr) c.1492G>T (p.Asp498Tyr) c.1729G>T (p.Asp577Tyr) c.1681G>T (p.Asp561Tyr) c.1540G>T (p.Asp514Tyr) c.1525G>T (p.Asp509Tyr) c.1384G>T (p.Asp462Tyr) c.1195G>T (p.Asp399Tyr) c.1180G>T (p.Asp394Tyr) c.685G>T (p.Asp229Tyr) c.496G>T (p.Asp166Tyr) | |
10 | g.86716573A= | CA1925631942 | LDB3 | n.515-2154A= c.1289A= (p.Asp430=) c.1337A= (p.Asp446=) c.1478A= (p.Asp493=) c.1148A= (p.Asp383=) c.1493A= (p.Asp498=) c.1730A= (p.Asp577=) c.1682A= (p.Asp561=) c.1541A= (p.Asp514=) c.1526A= (p.Asp509=) c.1385A= (p.Asp462=) c.1196A= (p.Asp399=) c.1181A= (p.Asp394=) c.686A= (p.Asp229=) c.497A= (p.Asp166=) | |
10 | g.86716573A>C | CA377450925 | LDB3 | n.515-2154A>C c.1289A>C (p.Asp430Ala) c.1337A>C (p.Asp446Ala) c.1478A>C (p.Asp493Ala) c.1148A>C (p.Asp383Ala) c.1493A>C (p.Asp498Ala) c.1730A>C (p.Asp577Ala) c.1682A>C (p.Asp561Ala) c.1541A>C (p.Asp514Ala) c.1526A>C (p.Asp509Ala) c.1385A>C (p.Asp462Ala) c.1196A>C (p.Asp399Ala) c.1181A>C (p.Asp394Ala) c.686A>C (p.Asp229Ala) c.497A>C (p.Asp166Ala) | |
10 | g.86716573A>G | CA377450926 | LDB3 | n.515-2154A>G c.1289A>G (p.Asp430Gly) c.1337A>G (p.Asp446Gly) c.1478A>G (p.Asp493Gly) c.1148A>G (p.Asp383Gly) c.1493A>G (p.Asp498Gly) c.1730A>G (p.Asp577Gly) c.1682A>G (p.Asp561Gly) c.1541A>G (p.Asp514Gly) c.1526A>G (p.Asp509Gly) c.1385A>G (p.Asp462Gly) c.1196A>G (p.Asp399Gly) c.1181A>G (p.Asp394Gly) c.686A>G (p.Asp229Gly) c.497A>G (p.Asp166Gly) | ClinVar dbSNP gnomAD v4 |
10 | g.86716573A>T | CA377450927 | LDB3 | n.515-2154A>T c.1289A>T (p.Asp430Val) c.1337A>T (p.Asp446Val) c.1478A>T (p.Asp493Val) c.1148A>T (p.Asp383Val) c.1493A>T (p.Asp498Val) c.1730A>T (p.Asp577Val) c.1682A>T (p.Asp561Val) c.1541A>T (p.Asp514Val) c.1526A>T (p.Asp509Val) c.1385A>T (p.Asp462Val) c.1196A>T (p.Asp399Val) c.1181A>T (p.Asp394Val) c.686A>T (p.Asp229Val) c.497A>T (p.Asp166Val) | gnomAD v4 |
10 | g.86716574T>A | CA377450930 | LDB3 | n.515-2153T>A c.1290T>A (p.Asp430Glu) c.1338T>A (p.Asp446Glu) c.1479T>A (p.Asp493Glu) c.1149T>A (p.Asp383Glu) c.1494T>A (p.Asp498Glu) c.1731T>A (p.Asp577Glu) c.1683T>A (p.Asp561Glu) c.1542T>A (p.Asp514Glu) c.1527T>A (p.Asp509Glu) c.1386T>A (p.Asp462Glu) c.1197T>A (p.Asp399Glu) c.1182T>A (p.Asp394Glu) c.687T>A (p.Asp229Glu) c.498T>A (p.Asp166Glu) | |
10 | g.86716574T>C | CA470375566 | LDB3 | n.515-2153T>C c.1290T>C (p.Asp430=) c.1338T>C (p.Asp446=) c.1479T>C (p.Asp493=) c.1149T>C (p.Asp383=) c.1494T>C (p.Asp498=) c.1731T>C (p.Asp577=) c.1683T>C (p.Asp561=) c.1542T>C (p.Asp514=) c.1527T>C (p.Asp509=) c.1386T>C (p.Asp462=) c.1197T>C (p.Asp399=) c.1182T>C (p.Asp394=) c.687T>C (p.Asp229=) c.498T>C (p.Asp166=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.86716574T>G | CA377450933 | LDB3 | n.515-2153T>G c.1290T>G (p.Asp430Glu) c.1338T>G (p.Asp446Glu) c.1479T>G (p.Asp493Glu) c.1149T>G (p.Asp383Glu) c.1494T>G (p.Asp498Glu) c.1731T>G (p.Asp577Glu) c.1683T>G (p.Asp561Glu) c.1542T>G (p.Asp514Glu) c.1527T>G (p.Asp509Glu) c.1386T>G (p.Asp462Glu) c.1197T>G (p.Asp399Glu) c.1182T>G (p.Asp394Glu) c.687T>G (p.Asp229Glu) c.498T>G (p.Asp166Glu) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.86716574T= | CA1925631943 | LDB3 | n.515-2153T= c.1290T= (p.Asp430=) c.1338T= (p.Asp446=) c.1479T= (p.Asp493=) c.1149T= (p.Asp383=) c.1494T= (p.Asp498=) c.1731T= (p.Asp577=) c.1683T= (p.Asp561=) c.1542T= (p.Asp514=) c.1527T= (p.Asp509=) c.1386T= (p.Asp462=) c.1197T= (p.Asp399=) c.1182T= (p.Asp394=) c.687T= (p.Asp229=) c.498T= (p.Asp166=) | |
10 | g.86716575G>A | CA5585168 | LDB3 | n.515-2152G>A c.1291G>A (p.Asp431Asn) c.1339G>A (p.Asp447Asn) c.1480G>A (p.Asp494Asn) c.1150G>A (p.Asp384Asn) c.1495G>A (p.Asp499Asn) c.1732G>A (p.Asp578Asn) c.1684G>A (p.Asp562Asn) c.1543G>A (p.Asp515Asn) c.1528G>A (p.Asp510Asn) c.1387G>A (p.Asp463Asn) c.1198G>A (p.Asp400Asn) c.1183G>A (p.Asp395Asn) c.688G>A (p.Asp230Asn) c.499G>A (p.Asp167Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86716575G>C | CA377450935 | LDB3 | n.515-2152G>C c.1291G>C (p.Asp431His) c.1339G>C (p.Asp447His) c.1480G>C (p.Asp494His) c.1150G>C (p.Asp384His) c.1495G>C (p.Asp499His) c.1732G>C (p.Asp578His) c.1684G>C (p.Asp562His) c.1543G>C (p.Asp515His) c.1528G>C (p.Asp510His) c.1387G>C (p.Asp463His) c.1198G>C (p.Asp400His) c.1183G>C (p.Asp395His) c.688G>C (p.Asp230His) c.499G>C (p.Asp167His) | |
10 | g.86716575G= | CA1925631944 | LDB3 | n.515-2152G= c.1291G= (p.Asp431=) c.1339G= (p.Asp447=) c.1480G= (p.Asp494=) c.1150G= (p.Asp384=) c.1495G= (p.Asp499=) c.1732G= (p.Asp578=) c.1684G= (p.Asp562=) c.1543G= (p.Asp515=) c.1528G= (p.Asp510=) c.1387G= (p.Asp463=) c.1198G= (p.Asp400=) c.1183G= (p.Asp395=) c.688G= (p.Asp230=) c.499G= (p.Asp167=) | |
10 | g.86716575G>T | CA377450937 | LDB3 | n.515-2152G>T c.1291G>T (p.Asp431Tyr) c.1339G>T (p.Asp447Tyr) c.1480G>T (p.Asp494Tyr) c.1150G>T (p.Asp384Tyr) c.1495G>T (p.Asp499Tyr) c.1732G>T (p.Asp578Tyr) c.1684G>T (p.Asp562Tyr) c.1543G>T (p.Asp515Tyr) c.1528G>T (p.Asp510Tyr) c.1387G>T (p.Asp463Tyr) c.1198G>T (p.Asp400Tyr) c.1183G>T (p.Asp395Tyr) c.688G>T (p.Asp230Tyr) c.499G>T (p.Asp167Tyr) | |
10 | g.86716576A>C | CA377450939 | LDB3 | n.515-2151A>C c.1292A>C (p.Asp431Ala) c.1340A>C (p.Asp447Ala) c.1481A>C (p.Asp494Ala) c.1151A>C (p.Asp384Ala) c.1496A>C (p.Asp499Ala) c.1733A>C (p.Asp578Ala) c.1685A>C (p.Asp562Ala) c.1544A>C (p.Asp515Ala) c.1529A>C (p.Asp510Ala) c.1388A>C (p.Asp463Ala) c.1199A>C (p.Asp400Ala) c.1184A>C (p.Asp395Ala) c.689A>C (p.Asp230Ala) c.500A>C (p.Asp167Ala) | |
10 | g.86716576A>G | CA377450941 | LDB3 | n.515-2151A>G c.1292A>G (p.Asp431Gly) c.1340A>G (p.Asp447Gly) c.1481A>G (p.Asp494Gly) c.1151A>G (p.Asp384Gly) c.1496A>G (p.Asp499Gly) c.1733A>G (p.Asp578Gly) c.1685A>G (p.Asp562Gly) c.1544A>G (p.Asp515Gly) c.1529A>G (p.Asp510Gly) c.1388A>G (p.Asp463Gly) c.1199A>G (p.Asp400Gly) c.1184A>G (p.Asp395Gly) c.689A>G (p.Asp230Gly) c.500A>G (p.Asp167Gly) | |
10 | g.86716576A>T | CA377450942 | LDB3 | n.515-2151A>T c.1292A>T (p.Asp431Val) c.1340A>T (p.Asp447Val) c.1481A>T (p.Asp494Val) c.1151A>T (p.Asp384Val) c.1496A>T (p.Asp499Val) c.1733A>T (p.Asp578Val) c.1685A>T (p.Asp562Val) c.1544A>T (p.Asp515Val) c.1529A>T (p.Asp510Val) c.1388A>T (p.Asp463Val) c.1199A>T (p.Asp400Val) c.1184A>T (p.Asp395Val) c.689A>T (p.Asp230Val) c.500A>T (p.Asp167Val) | |
10 | g.86716577T>A | CA377450944 | LDB3 | n.515-2150T>A c.1293T>A (p.Asp431Glu) c.1341T>A (p.Asp447Glu) c.1482T>A (p.Asp494Glu) c.1152T>A (p.Asp384Glu) c.1497T>A (p.Asp499Glu) c.1734T>A (p.Asp578Glu) c.1686T>A (p.Asp562Glu) c.1545T>A (p.Asp515Glu) c.1530T>A (p.Asp510Glu) c.1389T>A (p.Asp463Glu) c.1200T>A (p.Asp400Glu) c.1185T>A (p.Asp395Glu) c.690T>A (p.Asp230Glu) c.501T>A (p.Asp167Glu) | |
10 | g.86716577T>C | CA470375581 | LDB3 | n.515-2150T>C c.1293T>C (p.Asp431=) c.1341T>C (p.Asp447=) c.1482T>C (p.Asp494=) c.1152T>C (p.Asp384=) c.1497T>C (p.Asp499=) c.1734T>C (p.Asp578=) c.1686T>C (p.Asp562=) c.1545T>C (p.Asp515=) c.1530T>C (p.Asp510=) c.1389T>C (p.Asp463=) c.1200T>C (p.Asp400=) c.1185T>C (p.Asp395=) c.690T>C (p.Asp230=) c.501T>C (p.Asp167=) | dbSNP |
10 | g.86716577T>G | CA377450947 | LDB3 | n.515-2150T>G c.1293T>G (p.Asp431Glu) c.1341T>G (p.Asp447Glu) c.1482T>G (p.Asp494Glu) c.1152T>G (p.Asp384Glu) c.1497T>G (p.Asp499Glu) c.1734T>G (p.Asp578Glu) c.1686T>G (p.Asp562Glu) c.1545T>G (p.Asp515Glu) c.1530T>G (p.Asp510Glu) c.1389T>G (p.Asp463Glu) c.1200T>G (p.Asp400Glu) c.1185T>G (p.Asp395Glu) c.690T>G (p.Asp230Glu) c.501T>G (p.Asp167Glu) | |
10 | g.86716578A>C | CA377450948 | LDB3 | n.515-2149A>C c.1294A>C (p.Ser432Arg) c.1342A>C (p.Ser448Arg) c.1483A>C (p.Ser495Arg) c.1153A>C (p.Ser385Arg) c.1498A>C (p.Ser500Arg) c.1735A>C (p.Ser579Arg) c.1687A>C (p.Ser563Arg) c.1546A>C (p.Ser516Arg) c.1531A>C (p.Ser511Arg) c.1390A>C (p.Ser464Arg) c.1201A>C (p.Ser401Arg) c.1186A>C (p.Ser396Arg) c.691A>C (p.Ser231Arg) c.502A>C (p.Ser168Arg) | |
10 | g.86716578A>G | CA377450952 | LDB3 | n.515-2149A>G c.1294A>G (p.Ser432Gly) c.1342A>G (p.Ser448Gly) c.1483A>G (p.Ser495Gly) c.1153A>G (p.Ser385Gly) c.1498A>G (p.Ser500Gly) c.1735A>G (p.Ser579Gly) c.1687A>G (p.Ser563Gly) c.1546A>G (p.Ser516Gly) c.1531A>G (p.Ser511Gly) c.1390A>G (p.Ser464Gly) c.1201A>G (p.Ser401Gly) c.1186A>G (p.Ser396Gly) c.691A>G (p.Ser231Gly) c.502A>G (p.Ser168Gly) | ClinVar dbSNP gnomAD v4 |
10 | g.86716578A>T | CA377450950 | LDB3 | n.515-2149A>T c.1294A>T (p.Ser432Cys) c.1342A>T (p.Ser448Cys) c.1483A>T (p.Ser495Cys) c.1153A>T (p.Ser385Cys) c.1498A>T (p.Ser500Cys) c.1735A>T (p.Ser579Cys) c.1687A>T (p.Ser563Cys) c.1546A>T (p.Ser516Cys) c.1531A>T (p.Ser511Cys) c.1390A>T (p.Ser464Cys) c.1201A>T (p.Ser401Cys) c.1186A>T (p.Ser396Cys) c.691A>T (p.Ser231Cys) c.502A>T (p.Ser168Cys) | |
10 | g.86716579G>A | CA377450953 | LDB3 | n.515-2148G>A c.1295G>A (p.Ser432Asn) c.1343G>A (p.Ser448Asn) c.1484G>A (p.Ser495Asn) c.1154G>A (p.Ser385Asn) c.1499G>A (p.Ser500Asn) c.1736G>A (p.Ser579Asn) c.1688G>A (p.Ser563Asn) c.1547G>A (p.Ser516Asn) c.1532G>A (p.Ser511Asn) c.1391G>A (p.Ser464Asn) c.1202G>A (p.Ser401Asn) c.1187G>A (p.Ser396Asn) c.692G>A (p.Ser231Asn) c.503G>A (p.Ser168Asn) | gnomAD v4 |
10 | g.86716579G>C | CA377450955 | LDB3 | n.515-2148G>C c.1295G>C (p.Ser432Thr) c.1343G>C (p.Ser448Thr) c.1484G>C (p.Ser495Thr) c.1154G>C (p.Ser385Thr) c.1499G>C (p.Ser500Thr) c.1736G>C (p.Ser579Thr) c.1688G>C (p.Ser563Thr) c.1547G>C (p.Ser516Thr) c.1532G>C (p.Ser511Thr) c.1391G>C (p.Ser464Thr) c.1202G>C (p.Ser401Thr) c.1187G>C (p.Ser396Thr) c.692G>C (p.Ser231Thr) c.503G>C (p.Ser168Thr) | dbSNP |
10 | g.86716579G= | CA1925631945 | LDB3 | n.515-2148G= c.1295G= (p.Ser432=) c.1343G= (p.Ser448=) c.1484G= (p.Ser495=) c.1154G= (p.Ser385=) c.1499G= (p.Ser500=) c.1736G= (p.Ser579=) c.1688G= (p.Ser563=) c.1547G= (p.Ser516=) c.1532G= (p.Ser511=) c.1391G= (p.Ser464=) c.1202G= (p.Ser401=) c.1187G= (p.Ser396=) c.692G= (p.Ser231=) c.503G= (p.Ser168=) | |
10 | g.86716579G>T | CA377450956 | LDB3 | n.515-2148G>T c.1295G>T (p.Ser432Ile) c.1343G>T (p.Ser448Ile) c.1484G>T (p.Ser495Ile) c.1154G>T (p.Ser385Ile) c.1499G>T (p.Ser500Ile) c.1736G>T (p.Ser579Ile) c.1688G>T (p.Ser563Ile) c.1547G>T (p.Ser516Ile) c.1532G>T (p.Ser511Ile) c.1391G>T (p.Ser464Ile) c.1202G>T (p.Ser401Ile) c.1187G>T (p.Ser396Ile) c.692G>T (p.Ser231Ile) c.503G>T (p.Ser168Ile) | |
10 | g.86716580C>A | CA377450959 | LDB3 | n.515-2147C>A c.1296C>A (p.Ser432Arg) c.1344C>A (p.Ser448Arg) c.1485C>A (p.Ser495Arg) c.1155C>A (p.Ser385Arg) c.1500C>A (p.Ser500Arg) c.1737C>A (p.Ser579Arg) c.1689C>A (p.Ser563Arg) c.1548C>A (p.Ser516Arg) c.1533C>A (p.Ser511Arg) c.1392C>A (p.Ser464Arg) c.1203C>A (p.Ser401Arg) c.1188C>A (p.Ser396Arg) c.693C>A (p.Ser231Arg) c.504C>A (p.Ser168Arg) | |
10 | g.86716580C>G | CA377450962 | LDB3 | n.515-2147C>G c.1296C>G (p.Ser432Arg) c.1344C>G (p.Ser448Arg) c.1485C>G (p.Ser495Arg) c.1155C>G (p.Ser385Arg) c.1500C>G (p.Ser500Arg) c.1737C>G (p.Ser579Arg) c.1689C>G (p.Ser563Arg) c.1548C>G (p.Ser516Arg) c.1533C>G (p.Ser511Arg) c.1392C>G (p.Ser464Arg) c.1203C>G (p.Ser401Arg) c.1188C>G (p.Ser396Arg) c.693C>G (p.Ser231Arg) c.504C>G (p.Ser168Arg) | |
10 | g.86716580C>T | CA470375598 | LDB3 | n.515-2147C>T c.1296C>T (p.Ser432=) c.1344C>T (p.Ser448=) c.1485C>T (p.Ser495=) c.1155C>T (p.Ser385=) c.1500C>T (p.Ser500=) c.1737C>T (p.Ser579=) c.1689C>T (p.Ser563=) c.1548C>T (p.Ser516=) c.1533C>T (p.Ser511=) c.1392C>T (p.Ser464=) c.1203C>T (p.Ser401=) c.1188C>T (p.Ser396=) c.693C>T (p.Ser231=) c.504C>T (p.Ser168=) | |
10 | g.86716581T>A | CA377450965 | LDB3 | n.515-2146T>A c.1297T>A (p.Phe433Ile) c.1345T>A (p.Phe449Ile) c.1486T>A (p.Phe496Ile) c.1156T>A (p.Phe386Ile) c.1501T>A (p.Phe501Ile) c.1738T>A (p.Phe580Ile) c.1690T>A (p.Phe564Ile) c.1549T>A (p.Phe517Ile) c.1534T>A (p.Phe512Ile) c.1393T>A (p.Phe465Ile) c.1204T>A (p.Phe402Ile) c.1189T>A (p.Phe397Ile) c.694T>A (p.Phe232Ile) c.505T>A (p.Phe169Ile) | |
10 | g.86716581T>C | CA377450968 | LDB3 | n.515-2146T>C c.1297T>C (p.Phe433Leu) c.1345T>C (p.Phe449Leu) c.1486T>C (p.Phe496Leu) c.1156T>C (p.Phe386Leu) c.1501T>C (p.Phe501Leu) c.1738T>C (p.Phe580Leu) c.1690T>C (p.Phe564Leu) c.1549T>C (p.Phe517Leu) c.1534T>C (p.Phe512Leu) c.1393T>C (p.Phe465Leu) c.1204T>C (p.Phe402Leu) c.1189T>C (p.Phe397Leu) c.694T>C (p.Phe232Leu) c.505T>C (p.Phe169Leu) | |
10 | g.86716581T>G | CA5585169 | LDB3 | n.515-2146T>G c.1297T>G (p.Phe433Val) c.1345T>G (p.Phe449Val) c.1486T>G (p.Phe496Val) c.1156T>G (p.Phe386Val) c.1501T>G (p.Phe501Val) c.1738T>G (p.Phe580Val) c.1690T>G (p.Phe564Val) c.1549T>G (p.Phe517Val) c.1534T>G (p.Phe512Val) c.1393T>G (p.Phe465Val) c.1204T>G (p.Phe402Val) c.1189T>G (p.Phe397Val) c.694T>G (p.Phe232Val) c.505T>G (p.Phe169Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86716581T= | CA1925631946 | LDB3 | n.515-2146T= c.1297T= (p.Phe433=) c.1345T= (p.Phe449=) c.1486T= (p.Phe496=) c.1156T= (p.Phe386=) c.1501T= (p.Phe501=) c.1738T= (p.Phe580=) c.1690T= (p.Phe564=) c.1549T= (p.Phe517=) c.1534T= (p.Phe512=) c.1393T= (p.Phe465=) c.1204T= (p.Phe402=) c.1189T= (p.Phe397=) c.694T= (p.Phe232=) c.505T= (p.Phe169=) | |
10 | g.86716582T>A | CA377450973 | LDB3 | n.515-2145T>A c.1298T>A (p.Phe433Tyr) c.1346T>A (p.Phe449Tyr) c.1487T>A (p.Phe496Tyr) c.1157T>A (p.Phe386Tyr) c.1502T>A (p.Phe501Tyr) c.1739T>A (p.Phe580Tyr) c.1691T>A (p.Phe564Tyr) c.1550T>A (p.Phe517Tyr) c.1535T>A (p.Phe512Tyr) c.1394T>A (p.Phe465Tyr) c.1205T>A (p.Phe402Tyr) c.1190T>A (p.Phe397Tyr) c.695T>A (p.Phe232Tyr) c.506T>A (p.Phe169Tyr) | |
10 | g.86716582T>C | CA308633 | LDB3 | n.515-2145T>C c.1298T>C (p.Phe433Ser) c.1346T>C (p.Phe449Ser) c.1487T>C (p.Phe496Ser) c.1157T>C (p.Phe386Ser) c.1502T>C (p.Phe501Ser) c.1739T>C (p.Phe580Ser) c.1691T>C (p.Phe564Ser) c.1550T>C (p.Phe517Ser) c.1535T>C (p.Phe512Ser) c.1394T>C (p.Phe465Ser) c.1205T>C (p.Phe402Ser) c.1190T>C (p.Phe397Ser) c.695T>C (p.Phe232Ser) c.506T>C (p.Phe169Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86716582T>G | CA377450976 | LDB3 | n.515-2145T>G c.1298T>G (p.Phe433Cys) c.1346T>G (p.Phe449Cys) c.1487T>G (p.Phe496Cys) c.1157T>G (p.Phe386Cys) c.1502T>G (p.Phe501Cys) c.1739T>G (p.Phe580Cys) c.1691T>G (p.Phe564Cys) c.1550T>G (p.Phe517Cys) c.1535T>G (p.Phe512Cys) c.1394T>G (p.Phe465Cys) c.1205T>G (p.Phe402Cys) c.1190T>G (p.Phe397Cys) c.695T>G (p.Phe232Cys) c.506T>G (p.Phe169Cys) | |
10 | g.86716582T= | CA1925631947 | LDB3 | n.515-2145T= c.1298T= (p.Phe433=) c.1346T= (p.Phe449=) c.1487T= (p.Phe496=) c.1157T= (p.Phe386=) c.1502T= (p.Phe501=) c.1739T= (p.Phe580=) c.1691T= (p.Phe564=) c.1550T= (p.Phe517=) c.1535T= (p.Phe512=) c.1394T= (p.Phe465=) c.1205T= (p.Phe402=) c.1190T= (p.Phe397=) c.695T= (p.Phe232=) c.506T= (p.Phe169=) | |
10 | g.86716583C>A | CA377450981 | LDB3 | n.515-2144C>A c.1299C>A (p.Phe433Leu) c.1347C>A (p.Phe449Leu) c.1488C>A (p.Phe496Leu) c.1158C>A (p.Phe386Leu) c.1503C>A (p.Phe501Leu) c.1740C>A (p.Phe580Leu) c.1692C>A (p.Phe564Leu) c.1551C>A (p.Phe517Leu) c.1536C>A (p.Phe512Leu) c.1395C>A (p.Phe465Leu) c.1206C>A (p.Phe402Leu) c.1191C>A (p.Phe397Leu) c.696C>A (p.Phe232Leu) c.507C>A (p.Phe169Leu) | |
10 | g.86716583C>G | CA377450979 | LDB3 | n.515-2144C>G c.1299C>G (p.Phe433Leu) c.1347C>G (p.Phe449Leu) c.1488C>G (p.Phe496Leu) c.1158C>G (p.Phe386Leu) c.1503C>G (p.Phe501Leu) c.1740C>G (p.Phe580Leu) c.1692C>G (p.Phe564Leu) c.1551C>G (p.Phe517Leu) c.1536C>G (p.Phe512Leu) c.1395C>G (p.Phe465Leu) c.1206C>G (p.Phe402Leu) c.1191C>G (p.Phe397Leu) c.696C>G (p.Phe232Leu) c.507C>G (p.Phe169Leu) | |
10 | g.86716583C>T | CA470375616 | LDB3 | n.515-2144C>T c.1299C>T (p.Phe433=) c.1347C>T (p.Phe449=) c.1488C>T (p.Phe496=) c.1158C>T (p.Phe386=) c.1503C>T (p.Phe501=) c.1740C>T (p.Phe580=) c.1692C>T (p.Phe564=) c.1551C>T (p.Phe517=) c.1536C>T (p.Phe512=) c.1395C>T (p.Phe465=) c.1206C>T (p.Phe402=) c.1191C>T (p.Phe397=) c.696C>T (p.Phe232=) c.507C>T (p.Phe169=) | |
10 | g.86716584T>A | CA377450984 | LDB3 | n.515-2143T>A c.1300T>A (p.Ser434Thr) c.1348T>A (p.Ser450Thr) c.1489T>A (p.Ser497Thr) c.1159T>A (p.Ser387Thr) c.1504T>A (p.Ser502Thr) c.1741T>A (p.Ser581Thr) c.1693T>A (p.Ser565Thr) c.1552T>A (p.Ser518Thr) c.1537T>A (p.Ser513Thr) c.1396T>A (p.Ser466Thr) c.1207T>A (p.Ser403Thr) c.1192T>A (p.Ser398Thr) c.697T>A (p.Ser233Thr) c.508T>A (p.Ser170Thr) | |
10 | g.86716584T>C | CA377450990 | LDB3 | n.515-2143T>C c.1300T>C (p.Ser434Pro) c.1348T>C (p.Ser450Pro) c.1489T>C (p.Ser497Pro) c.1159T>C (p.Ser387Pro) c.1504T>C (p.Ser502Pro) c.1741T>C (p.Ser581Pro) c.1693T>C (p.Ser565Pro) c.1552T>C (p.Ser518Pro) c.1537T>C (p.Ser513Pro) c.1396T>C (p.Ser466Pro) c.1207T>C (p.Ser403Pro) c.1192T>C (p.Ser398Pro) c.697T>C (p.Ser233Pro) c.508T>C (p.Ser170Pro) | |
10 | g.86716584T>G | CA377450987 | LDB3 | n.515-2143T>G c.1300T>G (p.Ser434Ala) c.1348T>G (p.Ser450Ala) c.1489T>G (p.Ser497Ala) c.1159T>G (p.Ser387Ala) c.1504T>G (p.Ser502Ala) c.1741T>G (p.Ser581Ala) c.1693T>G (p.Ser565Ala) c.1552T>G (p.Ser518Ala) c.1537T>G (p.Ser513Ala) c.1396T>G (p.Ser466Ala) c.1207T>G (p.Ser403Ala) c.1192T>G (p.Ser398Ala) c.697T>G (p.Ser233Ala) c.508T>G (p.Ser170Ala) | |
10 | g.86716585C>A | CA377450992 | LDB3 | n.515-2142C>A c.1301C>A (p.Ser434Tyr) c.1349C>A (p.Ser450Tyr) c.1490C>A (p.Ser497Tyr) c.1160C>A (p.Ser387Tyr) c.1505C>A (p.Ser502Tyr) c.1742C>A (p.Ser581Tyr) c.1694C>A (p.Ser565Tyr) c.1553C>A (p.Ser518Tyr) c.1538C>A (p.Ser513Tyr) c.1397C>A (p.Ser466Tyr) c.1208C>A (p.Ser403Tyr) c.1193C>A (p.Ser398Tyr) c.698C>A (p.Ser233Tyr) c.509C>A (p.Ser170Tyr) | |
10 | g.86716585C= | CA1925631948 | LDB3 | n.515-2142C= c.1301C= (p.Ser434=) c.1349C= (p.Ser450=) c.1490C= (p.Ser497=) c.1160C= (p.Ser387=) c.1505C= (p.Ser502=) c.1742C= (p.Ser581=) c.1694C= (p.Ser565=) c.1553C= (p.Ser518=) c.1538C= (p.Ser513=) c.1397C= (p.Ser466=) c.1208C= (p.Ser403=) c.1193C= (p.Ser398=) c.698C= (p.Ser233=) c.509C= (p.Ser170=) | |
10 | g.86716585C>G | CA377450993 | LDB3 | n.515-2142C>G c.1301C>G (p.Ser434Cys) c.1349C>G (p.Ser450Cys) c.1490C>G (p.Ser497Cys) c.1160C>G (p.Ser387Cys) c.1505C>G (p.Ser502Cys) c.1742C>G (p.Ser581Cys) c.1694C>G (p.Ser565Cys) c.1553C>G (p.Ser518Cys) c.1538C>G (p.Ser513Cys) c.1397C>G (p.Ser466Cys) c.1208C>G (p.Ser403Cys) c.1193C>G (p.Ser398Cys) c.698C>G (p.Ser233Cys) c.509C>G (p.Ser170Cys) | |
10 | g.86716585C>T | CA377450996 | LDB3 | n.515-2142C>T c.1301C>T (p.Ser434Phe) c.1349C>T (p.Ser450Phe) c.1490C>T (p.Ser497Phe) c.1160C>T (p.Ser387Phe) c.1505C>T (p.Ser502Phe) c.1742C>T (p.Ser581Phe) c.1694C>T (p.Ser565Phe) c.1553C>T (p.Ser518Phe) c.1538C>T (p.Ser513Phe) c.1397C>T (p.Ser466Phe) c.1208C>T (p.Ser403Phe) c.1193C>T (p.Ser398Phe) c.698C>T (p.Ser233Phe) c.509C>T (p.Ser170Phe) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
10 | g.86716586C>A | CA470375630 | LDB3 | n.515-2141C>A c.1302C>A (p.Ser434=) c.1350C>A (p.Ser450=) c.1491C>A (p.Ser497=) c.1161C>A (p.Ser387=) c.1506C>A (p.Ser502=) c.1743C>A (p.Ser581=) c.1695C>A (p.Ser565=) c.1554C>A (p.Ser518=) c.1539C>A (p.Ser513=) c.1398C>A (p.Ser466=) c.1209C>A (p.Ser403=) c.1194C>A (p.Ser398=) c.699C>A (p.Ser233=) c.510C>A (p.Ser170=) | |
10 | g.86716586C>G | CA470375633 | LDB3 | n.515-2141C>G c.1302C>G (p.Ser434=) c.1350C>G (p.Ser450=) c.1491C>G (p.Ser497=) c.1161C>G (p.Ser387=) c.1506C>G (p.Ser502=) c.1743C>G (p.Ser581=) c.1695C>G (p.Ser565=) c.1554C>G (p.Ser518=) c.1539C>G (p.Ser513=) c.1398C>G (p.Ser466=) c.1209C>G (p.Ser403=) c.1194C>G (p.Ser398=) c.699C>G (p.Ser233=) c.510C>G (p.Ser170=) | |
10 | g.86716586C>T | CA470375635 | LDB3 | n.515-2141C>T c.1302C>T (p.Ser434=) c.1350C>T (p.Ser450=) c.1491C>T (p.Ser497=) c.1161C>T (p.Ser387=) c.1506C>T (p.Ser502=) c.1743C>T (p.Ser581=) c.1695C>T (p.Ser565=) c.1554C>T (p.Ser518=) c.1539C>T (p.Ser513=) c.1398C>T (p.Ser466=) c.1209C>T (p.Ser403=) c.1194C>T (p.Ser398=) c.699C>T (p.Ser233=) c.510C>T (p.Ser170=) | |
10 | g.86716587C>A | CA377450998 | LDB3 | n.515-2140C>A c.1303C>A (p.Gln435Lys) c.1351C>A (p.Gln451Lys) c.1492C>A (p.Gln498Lys) c.1162C>A (p.Gln388Lys) c.1507C>A (p.Gln503Lys) c.1744C>A (p.Gln582Lys) c.1696C>A (p.Gln566Lys) c.1555C>A (p.Gln519Lys) c.1540C>A (p.Gln514Lys) c.1399C>A (p.Gln467Lys) c.1210C>A (p.Gln404Lys) c.1195C>A (p.Gln399Lys) c.700C>A (p.Gln234Lys) c.511C>A (p.Gln171Lys) | dbSNP |
10 | g.86716587C= | CA1925631949 | LDB3 | n.515-2140C= c.1303C= (p.Gln435=) c.1351C= (p.Gln451=) c.1492C= (p.Gln498=) c.1162C= (p.Gln388=) c.1507C= (p.Gln503=) c.1744C= (p.Gln582=) c.1696C= (p.Gln566=) c.1555C= (p.Gln519=) c.1540C= (p.Gln514=) c.1399C= (p.Gln467=) c.1210C= (p.Gln404=) c.1195C= (p.Gln399=) c.700C= (p.Gln234=) c.511C= (p.Gln171=) | |
10 | g.86716587C>G | CA377451000 | LDB3 | n.515-2140C>G c.1303C>G (p.Gln435Glu) c.1351C>G (p.Gln451Glu) c.1492C>G (p.Gln498Glu) c.1162C>G (p.Gln388Glu) c.1507C>G (p.Gln503Glu) c.1744C>G (p.Gln582Glu) c.1696C>G (p.Gln566Glu) c.1555C>G (p.Gln519Glu) c.1540C>G (p.Gln514Glu) c.1399C>G (p.Gln467Glu) c.1210C>G (p.Gln404Glu) c.1195C>G (p.Gln399Glu) c.700C>G (p.Gln234Glu) c.511C>G (p.Gln171Glu) | |
10 | g.86716587C>T | CA377451003 | LDB3 | n.515-2140C>T c.1303C>T (p.Gln435Ter) c.1351C>T (p.Gln451Ter) c.1492C>T (p.Gln498Ter) c.1162C>T (p.Gln388Ter) c.1507C>T (p.Gln503Ter) c.1744C>T (p.Gln582Ter) c.1696C>T (p.Gln566Ter) c.1555C>T (p.Gln519Ter) c.1540C>T (p.Gln514Ter) c.1399C>T (p.Gln467Ter) c.1210C>T (p.Gln404Ter) c.1195C>T (p.Gln399Ter) c.700C>T (p.Gln234Ter) c.511C>T (p.Gln171Ter) | |
10 | g.86716588A= | CA1925631950 | LDB3 | n.515-2139A= c.1304A= (p.Gln435=) c.1352A= (p.Gln451=) c.1493A= (p.Gln498=) c.1163A= (p.Gln388=) c.1508A= (p.Gln503=) c.1745A= (p.Gln582=) c.1697A= (p.Gln566=) c.1556A= (p.Gln519=) c.1541A= (p.Gln514=) c.1400A= (p.Gln467=) c.1211A= (p.Gln404=) c.1196A= (p.Gln399=) c.701A= (p.Gln234=) c.512A= (p.Gln171=) | |
10 | g.86716588A>C | CA377451005 | LDB3 | n.515-2139A>C c.1304A>C (p.Gln435Pro) c.1352A>C (p.Gln451Pro) c.1493A>C (p.Gln498Pro) c.1163A>C (p.Gln388Pro) c.1508A>C (p.Gln503Pro) c.1745A>C (p.Gln582Pro) c.1697A>C (p.Gln566Pro) c.1556A>C (p.Gln519Pro) c.1541A>C (p.Gln514Pro) c.1400A>C (p.Gln467Pro) c.1211A>C (p.Gln404Pro) c.1196A>C (p.Gln399Pro) c.701A>C (p.Gln234Pro) c.512A>C (p.Gln171Pro) | |
10 | g.86716588A>G | CA5585170 | LDB3 | n.515-2139A>G c.1304A>G (p.Gln435Arg) c.1352A>G (p.Gln451Arg) c.1493A>G (p.Gln498Arg) c.1163A>G (p.Gln388Arg) c.1508A>G (p.Gln503Arg) c.1745A>G (p.Gln582Arg) c.1697A>G (p.Gln566Arg) c.1556A>G (p.Gln519Arg) c.1541A>G (p.Gln514Arg) c.1400A>G (p.Gln467Arg) c.1211A>G (p.Gln404Arg) c.1196A>G (p.Gln399Arg) c.701A>G (p.Gln234Arg) c.512A>G (p.Gln171Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.86716588A>T | CA377451008 | LDB3 | n.515-2139A>T c.1304A>T (p.Gln435Leu) c.1352A>T (p.Gln451Leu) c.1493A>T (p.Gln498Leu) c.1163A>T (p.Gln388Leu) c.1508A>T (p.Gln503Leu) c.1745A>T (p.Gln582Leu) c.1697A>T (p.Gln566Leu) c.1556A>T (p.Gln519Leu) c.1541A>T (p.Gln514Leu) c.1400A>T (p.Gln467Leu) c.1211A>T (p.Gln404Leu) c.1196A>T (p.Gln399Leu) c.701A>T (p.Gln234Leu) c.512A>T (p.Gln171Leu) | |
10 | g.86716589G>A | CA470375650 | LDB3 | n.515-2138G>A c.1305G>A (p.Gln435=) c.1353G>A (p.Gln451=) c.1494G>A (p.Gln498=) c.1164G>A (p.Gln388=) c.1509G>A (p.Gln503=) c.1746G>A (p.Gln582=) c.1698G>A (p.Gln566=) c.1557G>A (p.Gln519=) c.1542G>A (p.Gln514=) c.1401G>A (p.Gln467=) c.1212G>A (p.Gln404=) c.1197G>A (p.Gln399=) c.702G>A (p.Gln234=) c.513G>A (p.Gln171=) | |
10 | g.86716589G>C | CA377451011 | LDB3 | n.515-2138G>C c.1305G>C (p.Gln435His) c.1353G>C (p.Gln451His) c.1494G>C (p.Gln498His) c.1164G>C (p.Gln388His) c.1509G>C (p.Gln503His) c.1746G>C (p.Gln582His) c.1698G>C (p.Gln566His) c.1557G>C (p.Gln519His) c.1542G>C (p.Gln514His) c.1401G>C (p.Gln467His) c.1212G>C (p.Gln404His) c.1197G>C (p.Gln399His) c.702G>C (p.Gln234His) c.513G>C (p.Gln171His) | |
10 | g.86716589G>T | CA377451013 | LDB3 | n.515-2138G>T c.1305G>T (p.Gln435His) c.1353G>T (p.Gln451His) c.1494G>T (p.Gln498His) c.1164G>T (p.Gln388His) c.1509G>T (p.Gln503His) c.1746G>T (p.Gln582His) c.1698G>T (p.Gln566His) c.1557G>T (p.Gln519His) c.1542G>T (p.Gln514His) c.1401G>T (p.Gln467His) c.1212G>T (p.Gln404His) c.1197G>T (p.Gln399His) c.702G>T (p.Gln234His) c.513G>T (p.Gln171His) | |
10 | g.86716590A>C | CA377451023 | LDB3 | n.515-2137A>C c.1306A>C (p.Lys436Gln) c.1354A>C (p.Lys452Gln) c.1495A>C (p.Lys499Gln) c.1165A>C (p.Lys389Gln) c.1510A>C (p.Lys504Gln) c.1747A>C (p.Lys583Gln) c.1699A>C (p.Lys567Gln) c.1558A>C (p.Lys520Gln) c.1543A>C (p.Lys515Gln) c.1402A>C (p.Lys468Gln) c.1213A>C (p.Lys405Gln) c.1198A>C (p.Lys400Gln) c.703A>C (p.Lys235Gln) c.514A>C (p.Lys172Gln) | |
10 | g.86716590A>G | CA377451020 | LDB3 | n.515-2137A>G c.1306A>G (p.Lys436Glu) c.1354A>G (p.Lys452Glu) c.1495A>G (p.Lys499Glu) c.1165A>G (p.Lys389Glu) c.1510A>G (p.Lys504Glu) c.1747A>G (p.Lys583Glu) c.1699A>G (p.Lys567Glu) c.1558A>G (p.Lys520Glu) c.1543A>G (p.Lys515Glu) c.1402A>G (p.Lys468Glu) c.1213A>G (p.Lys405Glu) c.1198A>G (p.Lys400Glu) c.703A>G (p.Lys235Glu) c.514A>G (p.Lys172Glu) | |
10 | g.86716590A>T | CA377451017 | LDB3 | n.515-2137A>T c.1306A>T (p.Lys436Ter) c.1354A>T (p.Lys452Ter) c.1495A>T (p.Lys499Ter) c.1165A>T (p.Lys389Ter) c.1510A>T (p.Lys504Ter) c.1747A>T (p.Lys583Ter) c.1699A>T (p.Lys567Ter) c.1558A>T (p.Lys520Ter) c.1543A>T (p.Lys515Ter) c.1402A>T (p.Lys468Ter) c.1213A>T (p.Lys405Ter) c.1198A>T (p.Lys400Ter) c.703A>T (p.Lys235Ter) c.514A>T (p.Lys172Ter) | |
10 | g.86716591dup | CA2609997614 | LDB3 | n.515-2136dup c.1307dup (p.Phe437ValfsTer?) c.1355dup (p.Phe453ValfsTer?) c.1496dup (p.Phe500ValfsTer?) c.1166dup (p.Phe390ValfsTer?) c.1511dup (p.Phe505ValfsTer?) c.1748dup (p.Phe584ValfsTer?) c.1700dup (p.Phe568ValfsTer?) c.1559dup (p.Phe521ValfsTer?) c.1544dup (p.Phe516ValfsTer?) c.1403dup (p.Phe469ValfsTer?) c.1214dup (p.Phe406ValfsTer?) c.1199dup (p.Phe401ValfsTer?) c.704dup (p.Phe236ValfsTer?) c.515dup (p.Phe173ValfsTer?) | gnomAD v4 |
10 | g.86716591A>C | CA377451024 | LDB3 | n.515-2136A>C c.1307A>C (p.Lys436Thr) c.1355A>C (p.Lys452Thr) c.1496A>C (p.Lys499Thr) c.1166A>C (p.Lys389Thr) c.1511A>C (p.Lys504Thr) c.1748A>C (p.Lys583Thr) c.1700A>C (p.Lys567Thr) c.1559A>C (p.Lys520Thr) c.1544A>C (p.Lys515Thr) c.1403A>C (p.Lys468Thr) c.1214A>C (p.Lys405Thr) c.1199A>C (p.Lys400Thr) c.704A>C (p.Lys235Thr) c.515A>C (p.Lys172Thr) | |
10 | g.86716591A>G | CA377451026 | LDB3 | n.515-2136A>G c.1307A>G (p.Lys436Arg) c.1355A>G (p.Lys452Arg) c.1496A>G (p.Lys499Arg) c.1166A>G (p.Lys389Arg) c.1511A>G (p.Lys504Arg) c.1748A>G (p.Lys583Arg) c.1700A>G (p.Lys567Arg) c.1559A>G (p.Lys520Arg) c.1544A>G (p.Lys515Arg) c.1403A>G (p.Lys468Arg) c.1214A>G (p.Lys405Arg) c.1199A>G (p.Lys400Arg) c.704A>G (p.Lys235Arg) c.515A>G (p.Lys172Arg) | |
10 | g.86716591A>T | CA377451029 | LDB3 | n.515-2136A>T c.1307A>T (p.Lys436Met) c.1355A>T (p.Lys452Met) c.1496A>T (p.Lys499Met) c.1166A>T (p.Lys389Met) c.1511A>T (p.Lys504Met) c.1748A>T (p.Lys583Met) c.1700A>T (p.Lys567Met) c.1559A>T (p.Lys520Met) c.1544A>T (p.Lys515Met) c.1403A>T (p.Lys468Met) c.1214A>T (p.Lys405Met) c.1199A>T (p.Lys400Met) c.704A>T (p.Lys235Met) c.515A>T (p.Lys172Met) | |
10 | g.86716592G>A | CA470375668 | LDB3 | n.515-2135G>A c.1308G>A (p.Lys436=) c.1356G>A (p.Lys452=) c.1497G>A (p.Lys499=) c.1167G>A (p.Lys389=) c.1512G>A (p.Lys504=) c.1749G>A (p.Lys583=) c.1701G>A (p.Lys567=) c.1560G>A (p.Lys520=) c.1545G>A (p.Lys515=) c.1404G>A (p.Lys468=) c.1215G>A (p.Lys405=) c.1200G>A (p.Lys400=) c.705G>A (p.Lys235=) c.516G>A (p.Lys172=) | ClinVar gnomAD v4 |
10 | g.86716592G>C | CA377451031 | LDB3 | n.515-2135G>C c.1308G>C (p.Lys436Asn) c.1356G>C (p.Lys452Asn) c.1497G>C (p.Lys499Asn) c.1167G>C (p.Lys389Asn) c.1512G>C (p.Lys504Asn) c.1749G>C (p.Lys583Asn) c.1701G>C (p.Lys567Asn) c.1560G>C (p.Lys520Asn) c.1545G>C (p.Lys515Asn) c.1404G>C (p.Lys468Asn) c.1215G>C (p.Lys405Asn) c.1200G>C (p.Lys400Asn) c.705G>C (p.Lys235Asn) c.516G>C (p.Lys172Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.86716592G= | CA1925631951 | LDB3 | n.515-2135G= c.1308G= (p.Lys436=) c.1356G= (p.Lys452=) c.1497G= (p.Lys499=) c.1167G= (p.Lys389=) c.1512G= (p.Lys504=) c.1749G= (p.Lys583=) c.1701G= (p.Lys567=) c.1560G= (p.Lys520=) c.1545G= (p.Lys515=) c.1404G= (p.Lys468=) c.1215G= (p.Lys405=) c.1200G= (p.Lys400=) c.705G= (p.Lys235=) c.516G= (p.Lys172=) | |
10 | g.86716592G>T | CA377451033 | LDB3 | n.515-2135G>T c.1308G>T (p.Lys436Asn) c.1356G>T (p.Lys452Asn) c.1497G>T (p.Lys499Asn) c.1167G>T (p.Lys389Asn) c.1512G>T (p.Lys504Asn) c.1749G>T (p.Lys583Asn) c.1701G>T (p.Lys567Asn) c.1560G>T (p.Lys520Asn) c.1545G>T (p.Lys515Asn) c.1404G>T (p.Lys468Asn) c.1215G>T (p.Lys405Asn) c.1200G>T (p.Lys400Asn) c.705G>T (p.Lys235Asn) c.516G>T (p.Lys172Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86716593T>A | CA377451037 | LDB3 | n.515-2134T>A c.1309T>A (p.Phe437Ile) c.1357T>A (p.Phe453Ile) c.1498T>A (p.Phe500Ile) c.1168T>A (p.Phe390Ile) c.1513T>A (p.Phe505Ile) c.1750T>A (p.Phe584Ile) c.1702T>A (p.Phe568Ile) c.1561T>A (p.Phe521Ile) c.1546T>A (p.Phe516Ile) c.1405T>A (p.Phe469Ile) c.1216T>A (p.Phe406Ile) c.1201T>A (p.Phe401Ile) c.706T>A (p.Phe236Ile) c.517T>A (p.Phe173Ile) | |
10 | g.86716593T>C | CA377451039 | LDB3 | n.515-2134T>C c.1309T>C (p.Phe437Leu) c.1357T>C (p.Phe453Leu) c.1498T>C (p.Phe500Leu) c.1168T>C (p.Phe390Leu) c.1513T>C (p.Phe505Leu) c.1750T>C (p.Phe584Leu) c.1702T>C (p.Phe568Leu) c.1561T>C (p.Phe521Leu) c.1546T>C (p.Phe516Leu) c.1405T>C (p.Phe469Leu) c.1216T>C (p.Phe406Leu) c.1201T>C (p.Phe401Leu) c.706T>C (p.Phe236Leu) c.517T>C (p.Phe173Leu) | ClinVar |
10 | g.86716593T>G | CA377451042 | LDB3 | n.515-2134T>G c.1309T>G (p.Phe437Val) c.1357T>G (p.Phe453Val) c.1498T>G (p.Phe500Val) c.1168T>G (p.Phe390Val) c.1513T>G (p.Phe505Val) c.1750T>G (p.Phe584Val) c.1702T>G (p.Phe568Val) c.1561T>G (p.Phe521Val) c.1546T>G (p.Phe516Val) c.1405T>G (p.Phe469Val) c.1216T>G (p.Phe406Val) c.1201T>G (p.Phe401Val) c.706T>G (p.Phe236Val) c.517T>G (p.Phe173Val) | |
10 | g.86716594T>A | CA377451045 | LDB3 | n.515-2133T>A c.1310T>A (p.Phe437Tyr) c.1358T>A (p.Phe453Tyr) c.1499T>A (p.Phe500Tyr) c.1169T>A (p.Phe390Tyr) c.1514T>A (p.Phe505Tyr) c.1751T>A (p.Phe584Tyr) c.1703T>A (p.Phe568Tyr) c.1562T>A (p.Phe521Tyr) c.1547T>A (p.Phe516Tyr) c.1406T>A (p.Phe469Tyr) c.1217T>A (p.Phe406Tyr) c.1202T>A (p.Phe401Tyr) c.707T>A (p.Phe236Tyr) c.518T>A (p.Phe173Tyr) | |
10 | g.86716594T>C | CA377451048 | LDB3 | n.515-2133T>C c.1310T>C (p.Phe437Ser) c.1358T>C (p.Phe453Ser) c.1499T>C (p.Phe500Ser) c.1169T>C (p.Phe390Ser) c.1514T>C (p.Phe505Ser) c.1751T>C (p.Phe584Ser) c.1703T>C (p.Phe568Ser) c.1562T>C (p.Phe521Ser) c.1547T>C (p.Phe516Ser) c.1406T>C (p.Phe469Ser) c.1217T>C (p.Phe406Ser) c.1202T>C (p.Phe401Ser) c.707T>C (p.Phe236Ser) c.518T>C (p.Phe173Ser) | |
10 | g.86716594T>G | CA377451049 | LDB3 | n.515-2133T>G c.1310T>G (p.Phe437Cys) c.1358T>G (p.Phe453Cys) c.1499T>G (p.Phe500Cys) c.1169T>G (p.Phe390Cys) c.1514T>G (p.Phe505Cys) c.1751T>G (p.Phe584Cys) c.1703T>G (p.Phe568Cys) c.1562T>G (p.Phe521Cys) c.1547T>G (p.Phe516Cys) c.1406T>G (p.Phe469Cys) c.1217T>G (p.Phe406Cys) c.1202T>G (p.Phe401Cys) c.707T>G (p.Phe236Cys) c.518T>G (p.Phe173Cys) | |
10 | g.86716595T>A | CA377451051 | LDB3 | n.515-2132T>A c.1311T>A (p.Phe437Leu) c.1359T>A (p.Phe453Leu) c.1500T>A (p.Phe500Leu) c.1170T>A (p.Phe390Leu) c.1515T>A (p.Phe505Leu) c.1752T>A (p.Phe584Leu) c.1704T>A (p.Phe568Leu) c.1563T>A (p.Phe521Leu) c.1548T>A (p.Phe516Leu) c.1407T>A (p.Phe469Leu) c.1218T>A (p.Phe406Leu) c.1203T>A (p.Phe401Leu) c.708T>A (p.Phe236Leu) c.519T>A (p.Phe173Leu) | |
10 | g.86716595T>C | CA470375683 | LDB3 | n.515-2132T>C c.1311T>C (p.Phe437=) c.1359T>C (p.Phe453=) c.1500T>C (p.Phe500=) c.1170T>C (p.Phe390=) c.1515T>C (p.Phe505=) c.1752T>C (p.Phe584=) c.1704T>C (p.Phe568=) c.1563T>C (p.Phe521=) c.1548T>C (p.Phe516=) c.1407T>C (p.Phe469=) c.1218T>C (p.Phe406=) c.1203T>C (p.Phe401=) c.708T>C (p.Phe236=) c.519T>C (p.Phe173=) | |
10 | g.86716595T>G | CA377451053 | LDB3 | n.515-2132T>G c.1311T>G (p.Phe437Leu) c.1359T>G (p.Phe453Leu) c.1500T>G (p.Phe500Leu) c.1170T>G (p.Phe390Leu) c.1515T>G (p.Phe505Leu) c.1752T>G (p.Phe584Leu) c.1704T>G (p.Phe568Leu) c.1563T>G (p.Phe521Leu) c.1548T>G (p.Phe516Leu) c.1407T>G (p.Phe469Leu) c.1218T>G (p.Phe406Leu) c.1203T>G (p.Phe401Leu) c.708T>G (p.Phe236Leu) c.519T>G (p.Phe173Leu) | |
10 | g.86716596G>A | CA377451059 | LDB3 | n.515-2131G>A c.1312G>A (p.Ala438Thr) c.1360G>A (p.Ala454Thr) c.1501G>A (p.Ala501Thr) c.1171G>A (p.Ala391Thr) c.1516G>A (p.Ala506Thr) c.1753G>A (p.Ala585Thr) c.1705G>A (p.Ala569Thr) c.1564G>A (p.Ala522Thr) c.1549G>A (p.Ala517Thr) c.1408G>A (p.Ala470Thr) c.1219G>A (p.Ala407Thr) c.1204G>A (p.Ala402Thr) c.709G>A (p.Ala237Thr) c.520G>A (p.Ala174Thr) | gnomAD v4 |
10 | g.86716596G>C | CA377451057 | LDB3 | n.515-2131G>C c.1312G>C (p.Ala438Pro) c.1360G>C (p.Ala454Pro) c.1501G>C (p.Ala501Pro) c.1171G>C (p.Ala391Pro) c.1516G>C (p.Ala506Pro) c.1753G>C (p.Ala585Pro) c.1705G>C (p.Ala569Pro) c.1564G>C (p.Ala522Pro) c.1549G>C (p.Ala517Pro) c.1408G>C (p.Ala470Pro) c.1219G>C (p.Ala407Pro) c.1204G>C (p.Ala402Pro) c.709G>C (p.Ala237Pro) c.520G>C (p.Ala174Pro) | |
10 | g.86716596G>T | CA377451055 | LDB3 | n.515-2131G>T c.1312G>T (p.Ala438Ser) c.1360G>T (p.Ala454Ser) c.1501G>T (p.Ala501Ser) c.1171G>T (p.Ala391Ser) c.1516G>T (p.Ala506Ser) c.1753G>T (p.Ala585Ser) c.1705G>T (p.Ala569Ser) c.1564G>T (p.Ala522Ser) c.1549G>T (p.Ala517Ser) c.1408G>T (p.Ala470Ser) c.1219G>T (p.Ala407Ser) c.1204G>T (p.Ala402Ser) c.709G>T (p.Ala237Ser) c.520G>T (p.Ala174Ser) | |
10 | g.86716597C>A | CA377451061 | LDB3 | n.515-2130C>A c.1313C>A (p.Ala438Asp) c.1361C>A (p.Ala454Asp) c.1502C>A (p.Ala501Asp) c.1172C>A (p.Ala391Asp) c.1517C>A (p.Ala506Asp) c.1754C>A (p.Ala585Asp) c.1706C>A (p.Ala569Asp) c.1565C>A (p.Ala522Asp) c.1550C>A (p.Ala517Asp) c.1409C>A (p.Ala470Asp) c.1220C>A (p.Ala407Asp) c.1205C>A (p.Ala402Asp) c.710C>A (p.Ala237Asp) c.521C>A (p.Ala174Asp) | |
10 | g.86716597C= | CA1925631952 | LDB3 | n.515-2130C= c.1313C= (p.Ala438=) c.1361C= (p.Ala454=) c.1502C= (p.Ala501=) c.1172C= (p.Ala391=) c.1517C= (p.Ala506=) c.1754C= (p.Ala585=) c.1706C= (p.Ala569=) c.1565C= (p.Ala522=) c.1550C= (p.Ala517=) c.1409C= (p.Ala470=) c.1220C= (p.Ala407=) c.1205C= (p.Ala402=) c.710C= (p.Ala237=) c.521C= (p.Ala174=) | |
10 | g.86716597C>G | CA377451064 | LDB3 | n.515-2130C>G c.1313C>G (p.Ala438Gly) c.1361C>G (p.Ala454Gly) c.1502C>G (p.Ala501Gly) c.1172C>G (p.Ala391Gly) c.1517C>G (p.Ala506Gly) c.1754C>G (p.Ala585Gly) c.1706C>G (p.Ala569Gly) c.1565C>G (p.Ala522Gly) c.1550C>G (p.Ala517Gly) c.1409C>G (p.Ala470Gly) c.1220C>G (p.Ala407Gly) c.1205C>G (p.Ala402Gly) c.710C>G (p.Ala237Gly) c.521C>G (p.Ala174Gly) | |
10 | g.86716597C>T | CA5585171 | LDB3 | n.515-2130C>T c.1313C>T (p.Ala438Val) c.1361C>T (p.Ala454Val) c.1502C>T (p.Ala501Val) c.1172C>T (p.Ala391Val) c.1517C>T (p.Ala506Val) c.1754C>T (p.Ala585Val) c.1706C>T (p.Ala569Val) c.1565C>T (p.Ala522Val) c.1550C>T (p.Ala517Val) c.1409C>T (p.Ala470Val) c.1220C>T (p.Ala407Val) c.1205C>T (p.Ala402Val) c.710C>T (p.Ala237Val) c.521C>T (p.Ala174Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86716598C>A | CA470375705 | LDB3 | n.515-2129C>A c.1314C>A (p.Ala438=) c.1362C>A (p.Ala454=) c.1503C>A (p.Ala501=) c.1173C>A (p.Ala391=) c.1518C>A (p.Ala506=) c.1755C>A (p.Ala585=) c.1707C>A (p.Ala569=) c.1566C>A (p.Ala522=) c.1551C>A (p.Ala517=) c.1410C>A (p.Ala470=) c.1221C>A (p.Ala407=) c.1206C>A (p.Ala402=) c.711C>A (p.Ala237=) c.522C>A (p.Ala174=) | |
10 | g.86716598C= | CA1925631953 | LDB3 | n.515-2129C= c.1314C= (p.Ala438=) c.1362C= (p.Ala454=) c.1503C= (p.Ala501=) c.1173C= (p.Ala391=) c.1518C= (p.Ala506=) c.1755C= (p.Ala585=) c.1707C= (p.Ala569=) c.1566C= (p.Ala522=) c.1551C= (p.Ala517=) c.1410C= (p.Ala470=) c.1221C= (p.Ala407=) c.1206C= (p.Ala402=) c.711C= (p.Ala237=) c.522C= (p.Ala174=) | |
10 | g.86716598C>G | CA470375707 | LDB3 | n.515-2129C>G c.1314C>G (p.Ala438=) c.1362C>G (p.Ala454=) c.1503C>G (p.Ala501=) c.1173C>G (p.Ala391=) c.1518C>G (p.Ala506=) c.1755C>G (p.Ala585=) c.1707C>G (p.Ala569=) c.1566C>G (p.Ala522=) c.1551C>G (p.Ala517=) c.1410C>G (p.Ala470=) c.1221C>G (p.Ala407=) c.1206C>G (p.Ala402=) c.711C>G (p.Ala237=) c.522C>G (p.Ala174=) | |
10 | g.86716598C>T | CA136533 | LDB3 | n.515-2129C>T c.1314C>T (p.Ala438=) c.1362C>T (p.Ala454=) c.1503C>T (p.Ala501=) c.1173C>T (p.Ala391=) c.1518C>T (p.Ala506=) c.1755C>T (p.Ala585=) c.1707C>T (p.Ala569=) c.1566C>T (p.Ala522=) c.1551C>T (p.Ala517=) c.1410C>T (p.Ala470=) c.1221C>T (p.Ala407=) c.1206C>T (p.Ala402=) c.711C>T (p.Ala237=) c.522C>T (p.Ala174=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86716599C>A | CA377451068 | LDB3 | n.515-2128C>A c.1315C>A (p.Pro439Thr) c.1363C>A (p.Pro455Thr) c.1504C>A (p.Pro502Thr) c.1174C>A (p.Pro392Thr) c.1519C>A (p.Pro507Thr) c.1756C>A (p.Pro586Thr) c.1708C>A (p.Pro570Thr) c.1567C>A (p.Pro523Thr) c.1552C>A (p.Pro518Thr) c.1411C>A (p.Pro471Thr) c.1222C>A (p.Pro408Thr) c.1207C>A (p.Pro403Thr) c.712C>A (p.Pro238Thr) c.523C>A (p.Pro175Thr) | |
10 | g.86716599C>G | CA377451069 | LDB3 | n.515-2128C>G c.1315C>G (p.Pro439Ala) c.1363C>G (p.Pro455Ala) c.1504C>G (p.Pro502Ala) c.1174C>G (p.Pro392Ala) c.1519C>G (p.Pro507Ala) c.1756C>G (p.Pro586Ala) c.1708C>G (p.Pro570Ala) c.1567C>G (p.Pro523Ala) c.1552C>G (p.Pro518Ala) c.1411C>G (p.Pro471Ala) c.1222C>G (p.Pro408Ala) c.1207C>G (p.Pro403Ala) c.712C>G (p.Pro238Ala) c.523C>G (p.Pro175Ala) | |
10 | g.86716599C>T | CA377451071 | LDB3 | n.515-2128C>T c.1315C>T (p.Pro439Ser) c.1363C>T (p.Pro455Ser) c.1504C>T (p.Pro502Ser) c.1174C>T (p.Pro392Ser) c.1519C>T (p.Pro507Ser) c.1756C>T (p.Pro586Ser) c.1708C>T (p.Pro570Ser) c.1567C>T (p.Pro523Ser) c.1552C>T (p.Pro518Ser) c.1411C>T (p.Pro471Ser) c.1222C>T (p.Pro408Ser) c.1207C>T (p.Pro403Ser) c.712C>T (p.Pro238Ser) c.523C>T (p.Pro175Ser) | |
10 | g.86716600C>A | CA377451073 | LDB3 | n.515-2127C>A c.1316C>A (p.Pro439Gln) c.1364C>A (p.Pro455Gln) c.1505C>A (p.Pro502Gln) c.1175C>A (p.Pro392Gln) c.1520C>A (p.Pro507Gln) c.1757C>A (p.Pro586Gln) c.1709C>A (p.Pro570Gln) c.1568C>A (p.Pro523Gln) c.1553C>A (p.Pro518Gln) c.1412C>A (p.Pro471Gln) c.1223C>A (p.Pro408Gln) c.1208C>A (p.Pro403Gln) c.713C>A (p.Pro238Gln) c.524C>A (p.Pro175Gln) | |
10 | g.86716600C= | CA1925631954 | LDB3 | n.515-2127C= c.1316C= (p.Pro439=) c.1364C= (p.Pro455=) c.1505C= (p.Pro502=) c.1175C= (p.Pro392=) c.1520C= (p.Pro507=) c.1757C= (p.Pro586=) c.1709C= (p.Pro570=) c.1568C= (p.Pro523=) c.1553C= (p.Pro518=) c.1412C= (p.Pro471=) c.1223C= (p.Pro408=) c.1208C= (p.Pro403=) c.713C= (p.Pro238=) c.524C= (p.Pro175=) | |
10 | g.86716600C>G | CA377451074 | LDB3 | n.515-2127C>G c.1316C>G (p.Pro439Arg) c.1364C>G (p.Pro455Arg) c.1505C>G (p.Pro502Arg) c.1175C>G (p.Pro392Arg) c.1520C>G (p.Pro507Arg) c.1757C>G (p.Pro586Arg) c.1709C>G (p.Pro570Arg) c.1568C>G (p.Pro523Arg) c.1553C>G (p.Pro518Arg) c.1412C>G (p.Pro471Arg) c.1223C>G (p.Pro408Arg) c.1208C>G (p.Pro403Arg) c.713C>G (p.Pro238Arg) c.524C>G (p.Pro175Arg) | |
10 | g.86716600C>T | CA5585172 | LDB3 | n.515-2127C>T c.1316C>T (p.Pro439Leu) c.1364C>T (p.Pro455Leu) c.1505C>T (p.Pro502Leu) c.1175C>T (p.Pro392Leu) c.1520C>T (p.Pro507Leu) c.1757C>T (p.Pro586Leu) c.1709C>T (p.Pro570Leu) c.1568C>T (p.Pro523Leu) c.1553C>T (p.Pro518Leu) c.1412C>T (p.Pro471Leu) c.1223C>T (p.Pro408Leu) c.1208C>T (p.Pro403Leu) c.713C>T (p.Pro238Leu) c.524C>T (p.Pro175Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
10 | g.86716601G>A | CA136536 | LDB3 | n.515-2126G>A c.1317G>A (p.Pro439=) c.1365G>A (p.Pro455=) c.1506G>A (p.Pro502=) c.1176G>A (p.Pro392=) c.1521G>A (p.Pro507=) c.1758G>A (p.Pro586=) c.1710G>A (p.Pro570=) c.1569G>A (p.Pro523=) c.1554G>A (p.Pro518=) c.1413G>A (p.Pro471=) c.1224G>A (p.Pro408=) c.1209G>A (p.Pro403=) c.714G>A (p.Pro238=) c.525G>A (p.Pro175=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86716601G>C | CA470375725 | LDB3 | n.515-2126G>C c.1317G>C (p.Pro439=) c.1365G>C (p.Pro455=) c.1506G>C (p.Pro502=) c.1176G>C (p.Pro392=) c.1521G>C (p.Pro507=) c.1758G>C (p.Pro586=) c.1710G>C (p.Pro570=) c.1569G>C (p.Pro523=) c.1554G>C (p.Pro518=) c.1413G>C (p.Pro471=) c.1224G>C (p.Pro408=) c.1209G>C (p.Pro403=) c.714G>C (p.Pro238=) c.525G>C (p.Pro175=) | |
10 | g.86716601G= | CA1925631955 | LDB3 | n.515-2126G= c.1317G= (p.Pro439=) c.1365G= (p.Pro455=) c.1506G= (p.Pro502=) c.1176G= (p.Pro392=) c.1521G= (p.Pro507=) c.1758G= (p.Pro586=) c.1710G= (p.Pro570=) c.1569G= (p.Pro523=) c.1554G= (p.Pro518=) c.1413G= (p.Pro471=) c.1224G= (p.Pro408=) c.1209G= (p.Pro403=) c.714G= (p.Pro238=) c.525G= (p.Pro175=) | |
10 | g.86716601G>T | CA470375729 | LDB3 | n.515-2126G>T c.1317G>T (p.Pro439=) c.1365G>T (p.Pro455=) c.1506G>T (p.Pro502=) c.1176G>T (p.Pro392=) c.1521G>T (p.Pro507=) c.1758G>T (p.Pro586=) c.1710G>T (p.Pro570=) c.1569G>T (p.Pro523=) c.1554G>T (p.Pro518=) c.1413G>T (p.Pro471=) c.1224G>T (p.Pro408=) c.1209G>T (p.Pro403=) c.714G>T (p.Pro238=) c.525G>T (p.Pro175=) | gnomAD v4 |
10 | g.86716602G>A | CA377451079 | LDB3 | n.515-2125G>A c.1318G>A (p.Gly440Ser) c.1366G>A (p.Gly456Ser) c.1507G>A (p.Gly503Ser) c.1177G>A (p.Gly393Ser) c.1522G>A (p.Gly508Ser) c.1759G>A (p.Gly587Ser) c.1711G>A (p.Gly571Ser) c.1570G>A (p.Gly524Ser) c.1555G>A (p.Gly519Ser) c.1414G>A (p.Gly472Ser) c.1225G>A (p.Gly409Ser) c.1210G>A (p.Gly404Ser) c.715G>A (p.Gly239Ser) c.526G>A (p.Gly176Ser) | ClinVar gnomAD v4 |
10 | g.86716602G>C | CA377451081 | LDB3 | n.515-2125G>C c.1318G>C (p.Gly440Arg) c.1366G>C (p.Gly456Arg) c.1507G>C (p.Gly503Arg) c.1177G>C (p.Gly393Arg) c.1522G>C (p.Gly508Arg) c.1759G>C (p.Gly587Arg) c.1711G>C (p.Gly571Arg) c.1570G>C (p.Gly524Arg) c.1555G>C (p.Gly519Arg) c.1414G>C (p.Gly472Arg) c.1225G>C (p.Gly409Arg) c.1210G>C (p.Gly404Arg) c.715G>C (p.Gly239Arg) c.526G>C (p.Gly176Arg) | |
10 | g.86716602G>T | CA377451082 | LDB3 | n.515-2125G>T c.1318G>T (p.Gly440Cys) c.1366G>T (p.Gly456Cys) c.1507G>T (p.Gly503Cys) c.1177G>T (p.Gly393Cys) c.1522G>T (p.Gly508Cys) c.1759G>T (p.Gly587Cys) c.1711G>T (p.Gly571Cys) c.1570G>T (p.Gly524Cys) c.1555G>T (p.Gly519Cys) c.1414G>T (p.Gly472Cys) c.1225G>T (p.Gly409Cys) c.1210G>T (p.Gly404Cys) c.715G>T (p.Gly239Cys) c.526G>T (p.Gly176Cys) | gnomAD v4 |
10 | g.86716603G>A | CA5585173 | LDB3 | n.515-2124G>A c.1319G>A (p.Gly440Asp) c.1367G>A (p.Gly456Asp) c.1508G>A (p.Gly503Asp) c.1178G>A (p.Gly393Asp) c.1523G>A (p.Gly508Asp) c.1760G>A (p.Gly587Asp) c.1712G>A (p.Gly571Asp) c.1571G>A (p.Gly524Asp) c.1556G>A (p.Gly519Asp) c.1415G>A (p.Gly472Asp) c.1226G>A (p.Gly409Asp) c.1211G>A (p.Gly404Asp) c.716G>A (p.Gly239Asp) c.527G>A (p.Gly176Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.86716603G>C | CA377451084 | LDB3 | n.515-2124G>C c.1319G>C (p.Gly440Ala) c.1367G>C (p.Gly456Ala) c.1508G>C (p.Gly503Ala) c.1178G>C (p.Gly393Ala) c.1523G>C (p.Gly508Ala) c.1760G>C (p.Gly587Ala) c.1712G>C (p.Gly571Ala) c.1571G>C (p.Gly524Ala) c.1556G>C (p.Gly519Ala) c.1415G>C (p.Gly472Ala) c.1226G>C (p.Gly409Ala) c.1211G>C (p.Gly404Ala) c.716G>C (p.Gly239Ala) c.527G>C (p.Gly176Ala) | |
10 | g.86716603G= | CA1925631956 | LDB3 | n.515-2124G= c.1319G= (p.Gly440=) c.1367G= (p.Gly456=) c.1508G= (p.Gly503=) c.1178G= (p.Gly393=) c.1523G= (p.Gly508=) c.1760G= (p.Gly587=) c.1712G= (p.Gly571=) c.1571G= (p.Gly524=) c.1556G= (p.Gly519=) c.1415G= (p.Gly472=) c.1226G= (p.Gly409=) c.1211G= (p.Gly404=) c.716G= (p.Gly239=) c.527G= (p.Gly176=) | |
10 | g.86716603G>T | CA377451086 | LDB3 | n.515-2124G>T c.1319G>T (p.Gly440Val) c.1367G>T (p.Gly456Val) c.1508G>T (p.Gly503Val) c.1178G>T (p.Gly393Val) c.1523G>T (p.Gly508Val) c.1760G>T (p.Gly587Val) c.1712G>T (p.Gly571Val) c.1571G>T (p.Gly524Val) c.1556G>T (p.Gly519Val) c.1415G>T (p.Gly472Val) c.1226G>T (p.Gly409Val) c.1211G>T (p.Gly404Val) c.716G>T (p.Gly239Val) c.527G>T (p.Gly176Val) | |
10 | g.86716604del | CA2574457143 | LDB3 | n.515-2123del c.1320del (p.Lys441ArgfsTer?) c.1368del (p.Lys457ArgfsTer?) c.1509del (p.Lys504ArgfsTer?) c.1179del (p.Lys394ArgfsTer?) c.1524del (p.Lys509ArgfsTer?) c.1761del (p.Lys588ArgfsTer?) c.1713del (p.Lys572ArgfsTer?) c.1572del (p.Lys525ArgfsTer?) c.1557del (p.Lys520ArgfsTer?) c.1416del (p.Lys473ArgfsTer?) c.1227del (p.Lys410ArgfsTer?) c.1212del (p.Lys405ArgfsTer?) c.717del (p.Lys240ArgfsTer?) c.528del (p.Lys177ArgfsTer?) | |
10 | g.86716604C>A | CA470375748 | LDB3 | n.515-2123C>A c.1320C>A (p.Gly440=) c.1368C>A (p.Gly456=) c.1509C>A (p.Gly503=) c.1179C>A (p.Gly393=) c.1524C>A (p.Gly508=) c.1761C>A (p.Gly587=) c.1713C>A (p.Gly571=) c.1572C>A (p.Gly524=) c.1557C>A (p.Gly519=) c.1416C>A (p.Gly472=) c.1227C>A (p.Gly409=) c.1212C>A (p.Gly404=) c.717C>A (p.Gly239=) c.528C>A (p.Gly176=) | COSMIC COSMIC COSMIC |
10 | g.86716604C>G | CA470375746 | LDB3 | n.515-2123C>G c.1320C>G (p.Gly440=) c.1368C>G (p.Gly456=) c.1509C>G (p.Gly503=) c.1179C>G (p.Gly393=) c.1524C>G (p.Gly508=) c.1761C>G (p.Gly587=) c.1713C>G (p.Gly571=) c.1572C>G (p.Gly524=) c.1557C>G (p.Gly519=) c.1416C>G (p.Gly472=) c.1227C>G (p.Gly409=) c.1212C>G (p.Gly404=) c.717C>G (p.Gly239=) c.528C>G (p.Gly176=) | gnomAD v4 |
10 | g.86716604C>T | CA470375745 | LDB3 | n.515-2123C>T c.1320C>T (p.Gly440=) c.1368C>T (p.Gly456=) c.1509C>T (p.Gly503=) c.1179C>T (p.Gly393=) c.1524C>T (p.Gly508=) c.1761C>T (p.Gly587=) c.1713C>T (p.Gly571=) c.1572C>T (p.Gly524=) c.1557C>T (p.Gly519=) c.1416C>T (p.Gly472=) c.1227C>T (p.Gly409=) c.1212C>T (p.Gly404=) c.717C>T (p.Gly239=) c.528C>T (p.Gly176=) | |
10 | g.86716605A>C | CA377451088 | LDB3 | n.515-2122A>C c.1321A>C (p.Lys441Gln) c.1369A>C (p.Lys457Gln) c.1510A>C (p.Lys504Gln) c.1180A>C (p.Lys394Gln) c.1525A>C (p.Lys509Gln) c.1762A>C (p.Lys588Gln) c.1714A>C (p.Lys572Gln) c.1573A>C (p.Lys525Gln) c.1558A>C (p.Lys520Gln) c.1417A>C (p.Lys473Gln) c.1228A>C (p.Lys410Gln) c.1213A>C (p.Lys405Gln) c.718A>C (p.Lys240Gln) c.529A>C (p.Lys177Gln) | |
10 | g.86716605A>G | CA377451092 | LDB3 | n.515-2122A>G c.1321A>G (p.Lys441Glu) c.1369A>G (p.Lys457Glu) c.1510A>G (p.Lys504Glu) c.1180A>G (p.Lys394Glu) c.1525A>G (p.Lys509Glu) c.1762A>G (p.Lys588Glu) c.1714A>G (p.Lys572Glu) c.1573A>G (p.Lys525Glu) c.1558A>G (p.Lys520Glu) c.1417A>G (p.Lys473Glu) c.1228A>G (p.Lys410Glu) c.1213A>G (p.Lys405Glu) c.718A>G (p.Lys240Glu) c.529A>G (p.Lys177Glu) | |
10 | g.86716605A>T | CA377451090 | LDB3 | n.515-2122A>T c.1321A>T (p.Lys441Ter) c.1369A>T (p.Lys457Ter) c.1510A>T (p.Lys504Ter) c.1180A>T (p.Lys394Ter) c.1525A>T (p.Lys509Ter) c.1762A>T (p.Lys588Ter) c.1714A>T (p.Lys572Ter) c.1573A>T (p.Lys525Ter) c.1558A>T (p.Lys520Ter) c.1417A>T (p.Lys473Ter) c.1228A>T (p.Lys410Ter) c.1213A>T (p.Lys405Ter) c.718A>T (p.Lys240Ter) c.529A>T (p.Lys177Ter) | |
10 | g.86716606A>C | CA377451094 | LDB3 | n.515-2121A>C c.1322A>C (p.Lys441Thr) c.1370A>C (p.Lys457Thr) c.1511A>C (p.Lys504Thr) c.1181A>C (p.Lys394Thr) c.1526A>C (p.Lys509Thr) c.1763A>C (p.Lys588Thr) c.1715A>C (p.Lys572Thr) c.1574A>C (p.Lys525Thr) c.1559A>C (p.Lys520Thr) c.1418A>C (p.Lys473Thr) c.1229A>C (p.Lys410Thr) c.1214A>C (p.Lys405Thr) c.719A>C (p.Lys240Thr) c.530A>C (p.Lys177Thr) | |
10 | g.86716606A>G | CA377451096 | LDB3 | n.515-2121A>G c.1322A>G (p.Lys441Arg) c.1370A>G (p.Lys457Arg) c.1511A>G (p.Lys504Arg) c.1181A>G (p.Lys394Arg) c.1526A>G (p.Lys509Arg) c.1763A>G (p.Lys588Arg) c.1715A>G (p.Lys572Arg) c.1574A>G (p.Lys525Arg) c.1559A>G (p.Lys520Arg) c.1418A>G (p.Lys473Arg) c.1229A>G (p.Lys410Arg) c.1214A>G (p.Lys405Arg) c.719A>G (p.Lys240Arg) c.530A>G (p.Lys177Arg) | |
10 | g.86716606A>T | CA377451098 | LDB3 | n.515-2121A>T c.1322A>T (p.Lys441Met) c.1370A>T (p.Lys457Met) c.1511A>T (p.Lys504Met) c.1181A>T (p.Lys394Met) c.1526A>T (p.Lys509Met) c.1763A>T (p.Lys588Met) c.1715A>T (p.Lys572Met) c.1574A>T (p.Lys525Met) c.1559A>T (p.Lys520Met) c.1418A>T (p.Lys473Met) c.1229A>T (p.Lys410Met) c.1214A>T (p.Lys405Met) c.719A>T (p.Lys240Met) c.530A>T (p.Lys177Met) | |
10 | g.86716607G>A | CA470375763 | LDB3 | n.515-2120G>A c.1323G>A (p.Lys441=) c.1371G>A (p.Lys457=) c.1512G>A (p.Lys504=) c.1182G>A (p.Lys394=) c.1527G>A (p.Lys509=) c.1764G>A (p.Lys588=) c.1716G>A (p.Lys572=) c.1575G>A (p.Lys525=) c.1560G>A (p.Lys520=) c.1419G>A (p.Lys473=) c.1230G>A (p.Lys410=) c.1215G>A (p.Lys405=) c.720G>A (p.Lys240=) c.531G>A (p.Lys177=) | gnomAD v4 |
10 | g.86716607G>C | CA377451100 | LDB3 | n.515-2120G>C c.1323G>C (p.Lys441Asn) c.1371G>C (p.Lys457Asn) c.1512G>C (p.Lys504Asn) c.1182G>C (p.Lys394Asn) c.1527G>C (p.Lys509Asn) c.1764G>C (p.Lys588Asn) c.1716G>C (p.Lys572Asn) c.1575G>C (p.Lys525Asn) c.1560G>C (p.Lys520Asn) c.1419G>C (p.Lys473Asn) c.1230G>C (p.Lys410Asn) c.1215G>C (p.Lys405Asn) c.720G>C (p.Lys240Asn) c.531G>C (p.Lys177Asn) | |
10 | g.86716607G>T | CA377451101 | LDB3 | n.515-2120G>T c.1323G>T (p.Lys441Asn) c.1371G>T (p.Lys457Asn) c.1512G>T (p.Lys504Asn) c.1182G>T (p.Lys394Asn) c.1527G>T (p.Lys509Asn) c.1764G>T (p.Lys588Asn) c.1716G>T (p.Lys572Asn) c.1575G>T (p.Lys525Asn) c.1560G>T (p.Lys520Asn) c.1419G>T (p.Lys473Asn) c.1230G>T (p.Lys410Asn) c.1215G>T (p.Lys405Asn) c.720G>T (p.Lys240Asn) c.531G>T (p.Lys177Asn) | |
10 | g.86716608A>C | CA377451103 | LDB3 | n.515-2119A>C c.1324A>C (p.Ser442Arg) c.1372A>C (p.Ser458Arg) c.1513A>C (p.Ser505Arg) c.1183A>C (p.Ser395Arg) c.1528A>C (p.Ser510Arg) c.1765A>C (p.Ser589Arg) c.1717A>C (p.Ser573Arg) c.1576A>C (p.Ser526Arg) c.1561A>C (p.Ser521Arg) c.1420A>C (p.Ser474Arg) c.1231A>C (p.Ser411Arg) c.1216A>C (p.Ser406Arg) c.721A>C (p.Ser241Arg) c.532A>C (p.Ser178Arg) | |
10 | g.86716608A>G | CA377451105 | LDB3 | n.515-2119A>G c.1324A>G (p.Ser442Gly) c.1372A>G (p.Ser458Gly) c.1513A>G (p.Ser505Gly) c.1183A>G (p.Ser395Gly) c.1528A>G (p.Ser510Gly) c.1765A>G (p.Ser589Gly) c.1717A>G (p.Ser573Gly) c.1576A>G (p.Ser526Gly) c.1561A>G (p.Ser521Gly) c.1420A>G (p.Ser474Gly) c.1231A>G (p.Ser411Gly) c.1216A>G (p.Ser406Gly) c.721A>G (p.Ser241Gly) c.532A>G (p.Ser178Gly) | |
10 | g.86716608A>T | CA377451107 | LDB3 | n.515-2119A>T c.1324A>T (p.Ser442Cys) c.1372A>T (p.Ser458Cys) c.1513A>T (p.Ser505Cys) c.1183A>T (p.Ser395Cys) c.1528A>T (p.Ser510Cys) c.1765A>T (p.Ser589Cys) c.1717A>T (p.Ser573Cys) c.1576A>T (p.Ser526Cys) c.1561A>T (p.Ser521Cys) c.1420A>T (p.Ser474Cys) c.1231A>T (p.Ser411Cys) c.1216A>T (p.Ser406Cys) c.721A>T (p.Ser241Cys) c.532A>T (p.Ser178Cys) | |
10 | g.86716609G>A | CA5585174 | LDB3 | n.515-2118G>A c.1325G>A (p.Ser442Asn) c.1373G>A (p.Ser458Asn) c.1514G>A (p.Ser505Asn) c.1184G>A (p.Ser395Asn) c.1529G>A (p.Ser510Asn) c.1766G>A (p.Ser589Asn) c.1718G>A (p.Ser573Asn) c.1577G>A (p.Ser526Asn) c.1562G>A (p.Ser521Asn) c.1421G>A (p.Ser474Asn) c.1232G>A (p.Ser411Asn) c.1217G>A (p.Ser406Asn) c.722G>A (p.Ser241Asn) c.533G>A (p.Ser178Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.86716609G>C | CA377451110 | LDB3 | n.515-2118G>C c.1325G>C (p.Ser442Thr) c.1373G>C (p.Ser458Thr) c.1514G>C (p.Ser505Thr) c.1184G>C (p.Ser395Thr) c.1529G>C (p.Ser510Thr) c.1766G>C (p.Ser589Thr) c.1718G>C (p.Ser573Thr) c.1577G>C (p.Ser526Thr) c.1562G>C (p.Ser521Thr) c.1421G>C (p.Ser474Thr) c.1232G>C (p.Ser411Thr) c.1217G>C (p.Ser406Thr) c.722G>C (p.Ser241Thr) c.533G>C (p.Ser178Thr) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.86716609G= | CA1925631957 | LDB3 | n.515-2118G= c.1325G= (p.Ser442=) c.1373G= (p.Ser458=) c.1514G= (p.Ser505=) c.1184G= (p.Ser395=) c.1529G= (p.Ser510=) c.1766G= (p.Ser589=) c.1718G= (p.Ser573=) c.1577G= (p.Ser526=) c.1562G= (p.Ser521=) c.1421G= (p.Ser474=) c.1232G= (p.Ser411=) c.1217G= (p.Ser406=) c.722G= (p.Ser241=) c.533G= (p.Ser178=) | |
10 | g.86716609G>T | CA377451112 | LDB3 | n.515-2118G>T c.1325G>T (p.Ser442Ile) c.1373G>T (p.Ser458Ile) c.1514G>T (p.Ser505Ile) c.1184G>T (p.Ser395Ile) c.1529G>T (p.Ser510Ile) c.1766G>T (p.Ser589Ile) c.1718G>T (p.Ser573Ile) c.1577G>T (p.Ser526Ile) c.1562G>T (p.Ser521Ile) c.1421G>T (p.Ser474Ile) c.1232G>T (p.Ser411Ile) c.1217G>T (p.Ser406Ile) c.722G>T (p.Ser241Ile) c.533G>T (p.Ser178Ile) | |
10 | g.86716610C>A | CA377451116 | LDB3 | n.515-2117C>A c.1326C>A (p.Ser442Arg) c.1374C>A (p.Ser458Arg) c.1515C>A (p.Ser505Arg) c.1185C>A (p.Ser395Arg) c.1530C>A (p.Ser510Arg) c.1767C>A (p.Ser589Arg) c.1719C>A (p.Ser573Arg) c.1578C>A (p.Ser526Arg) c.1563C>A (p.Ser521Arg) c.1422C>A (p.Ser474Arg) c.1233C>A (p.Ser411Arg) c.1218C>A (p.Ser406Arg) c.723C>A (p.Ser241Arg) c.534C>A (p.Ser178Arg) | |
10 | g.86716610C= | CA1925631959 | LDB3 | n.515-2117C= c.1326C= (p.Ser442=) c.1374C= (p.Ser458=) c.1515C= (p.Ser505=) c.1185C= (p.Ser395=) c.1530C= (p.Ser510=) c.1767C= (p.Ser589=) c.1719C= (p.Ser573=) c.1578C= (p.Ser526=) c.1563C= (p.Ser521=) c.1422C= (p.Ser474=) c.1233C= (p.Ser411=) c.1218C= (p.Ser406=) c.723C= (p.Ser241=) c.534C= (p.Ser178=) | |
10 | g.86716610C>G | CA377451114 | LDB3 | n.515-2117C>G c.1326C>G (p.Ser442Arg) c.1374C>G (p.Ser458Arg) c.1515C>G (p.Ser505Arg) c.1185C>G (p.Ser395Arg) c.1530C>G (p.Ser510Arg) c.1767C>G (p.Ser589Arg) c.1719C>G (p.Ser573Arg) c.1578C>G (p.Ser526Arg) c.1563C>G (p.Ser521Arg) c.1422C>G (p.Ser474Arg) c.1233C>G (p.Ser411Arg) c.1218C>G (p.Ser406Arg) c.723C>G (p.Ser241Arg) c.534C>G (p.Ser178Arg) | |
10 | g.86716610C>T | CA470375780 | LDB3 | n.515-2117C>T c.1326C>T (p.Ser442=) c.1374C>T (p.Ser458=) c.1515C>T (p.Ser505=) c.1185C>T (p.Ser395=) c.1530C>T (p.Ser510=) c.1767C>T (p.Ser589=) c.1719C>T (p.Ser573=) c.1578C>T (p.Ser526=) c.1563C>T (p.Ser521=) c.1422C>T (p.Ser474=) c.1233C>T (p.Ser411=) c.1218C>T (p.Ser406=) c.723C>T (p.Ser241=) c.534C>T (p.Ser178=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.86716610_86716611delinsCA | CA1925631958 | LDB3 | n.515-2117_515-2116delinsCA c.1326_1327delinsCA (p.Ser442=) c.1374_1375delinsCA (p.Ser458=) c.1515_1516delinsCA (p.Ser505=) c.1185_1186delinsCA (p.Ser395=) c.1530_1531delinsCA (p.Ser510=) c.1767_1768delinsCA (p.Ser589=) c.1719_1720delinsCA (p.Ser573=) c.1578_1579delinsCA (p.Ser526=) c.1563_1564delinsCA (p.Ser521=) c.1422_1423delinsCA (p.Ser474=) c.1233_1234delinsCA (p.Ser411=) c.1218_1219delinsCA (p.Ser406=) c.723_724delinsCA (p.Ser241=) c.534_535delinsCA (p.Ser178=) | |
10 | g.86716611del | CA5585175 | LDB3 | n.515-2116del c.1327del (p.Thr443ProfsTer?) c.1375del (p.Thr459ProfsTer?) c.1516del (p.Thr506ProfsTer?) c.1186del (p.Thr396ProfsTer?) c.1531del (p.Thr511ProfsTer?) c.1768del (p.Thr590ProfsTer?) c.1720del (p.Thr574ProfsTer?) c.1579del (p.Thr527ProfsTer?) c.1564del (p.Thr522ProfsTer?) c.1423del (p.Thr475ProfsTer?) c.1234del (p.Thr412ProfsTer?) c.1219del (p.Thr407ProfsTer?) c.724del (p.Thr242ProfsTer?) c.535del (p.Thr179ProfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86716611A>C | CA377451119 | LDB3 | n.515-2116A>C c.1327A>C (p.Thr443Pro) c.1375A>C (p.Thr459Pro) c.1516A>C (p.Thr506Pro) c.1186A>C (p.Thr396Pro) c.1531A>C (p.Thr511Pro) c.1768A>C (p.Thr590Pro) c.1720A>C (p.Thr574Pro) c.1579A>C (p.Thr527Pro) c.1564A>C (p.Thr522Pro) c.1423A>C (p.Thr475Pro) c.1234A>C (p.Thr412Pro) c.1219A>C (p.Thr407Pro) c.724A>C (p.Thr242Pro) c.535A>C (p.Thr179Pro) | |
10 | g.86716611A>G | CA377451121 | LDB3 | n.515-2116A>G c.1327A>G (p.Thr443Ala) c.1375A>G (p.Thr459Ala) c.1516A>G (p.Thr506Ala) c.1186A>G (p.Thr396Ala) c.1531A>G (p.Thr511Ala) c.1768A>G (p.Thr590Ala) c.1720A>G (p.Thr574Ala) c.1579A>G (p.Thr527Ala) c.1564A>G (p.Thr522Ala) c.1423A>G (p.Thr475Ala) c.1234A>G (p.Thr412Ala) c.1219A>G (p.Thr407Ala) c.724A>G (p.Thr242Ala) c.535A>G (p.Thr179Ala) | |
10 | g.86716611A>T | CA377451122 | LDB3 | n.515-2116A>T c.1327A>T (p.Thr443Ser) c.1375A>T (p.Thr459Ser) c.1516A>T (p.Thr506Ser) c.1186A>T (p.Thr396Ser) c.1531A>T (p.Thr511Ser) c.1768A>T (p.Thr590Ser) c.1720A>T (p.Thr574Ser) c.1579A>T (p.Thr527Ser) c.1564A>T (p.Thr522Ser) c.1423A>T (p.Thr475Ser) c.1234A>T (p.Thr412Ser) c.1219A>T (p.Thr407Ser) c.724A>T (p.Thr242Ser) c.535A>T (p.Thr179Ser) | |
10 | g.86716612C>A | CA377451125 | LDB3 | n.515-2115C>A c.1328C>A (p.Thr443Asn) c.1376C>A (p.Thr459Asn) c.1517C>A (p.Thr506Asn) c.1187C>A (p.Thr396Asn) c.1532C>A (p.Thr511Asn) c.1769C>A (p.Thr590Asn) c.1721C>A (p.Thr574Asn) c.1580C>A (p.Thr527Asn) c.1565C>A (p.Thr522Asn) c.1424C>A (p.Thr475Asn) c.1235C>A (p.Thr412Asn) c.1220C>A (p.Thr407Asn) c.725C>A (p.Thr242Asn) c.536C>A (p.Thr179Asn) | |
10 | g.86716612C>G | CA377451127 | LDB3 | n.515-2115C>G c.1328C>G (p.Thr443Ser) c.1376C>G (p.Thr459Ser) c.1517C>G (p.Thr506Ser) c.1187C>G (p.Thr396Ser) c.1532C>G (p.Thr511Ser) c.1769C>G (p.Thr590Ser) c.1721C>G (p.Thr574Ser) c.1580C>G (p.Thr527Ser) c.1565C>G (p.Thr522Ser) c.1424C>G (p.Thr475Ser) c.1235C>G (p.Thr412Ser) c.1220C>G (p.Thr407Ser) c.725C>G (p.Thr242Ser) c.536C>G (p.Thr179Ser) | |
10 | g.86716612C>T | CA377451129 | LDB3 | n.515-2115C>T c.1328C>T (p.Thr443Ile) c.1376C>T (p.Thr459Ile) c.1517C>T (p.Thr506Ile) c.1187C>T (p.Thr396Ile) c.1532C>T (p.Thr511Ile) c.1769C>T (p.Thr590Ile) c.1721C>T (p.Thr574Ile) c.1580C>T (p.Thr527Ile) c.1565C>T (p.Thr522Ile) c.1424C>T (p.Thr475Ile) c.1235C>T (p.Thr412Ile) c.1220C>T (p.Thr407Ile) c.725C>T (p.Thr242Ile) c.536C>T (p.Thr179Ile) | |
10 | g.86716613C>A | CA470375797 | LDB3 | n.515-2114C>A c.1329C>A (p.Thr443=) c.1377C>A (p.Thr459=) c.1518C>A (p.Thr506=) c.1188C>A (p.Thr396=) c.1533C>A (p.Thr511=) c.1770C>A (p.Thr590=) c.1722C>A (p.Thr574=) c.1581C>A (p.Thr527=) c.1566C>A (p.Thr522=) c.1425C>A (p.Thr475=) c.1236C>A (p.Thr412=) c.1221C>A (p.Thr407=) c.726C>A (p.Thr242=) c.537C>A (p.Thr179=) | |
10 | g.86716613C>G | CA470375799 | LDB3 | n.515-2114C>G c.1329C>G (p.Thr443=) c.1377C>G (p.Thr459=) c.1518C>G (p.Thr506=) c.1188C>G (p.Thr396=) c.1533C>G (p.Thr511=) c.1770C>G (p.Thr590=) c.1722C>G (p.Thr574=) c.1581C>G (p.Thr527=) c.1566C>G (p.Thr522=) c.1425C>G (p.Thr475=) c.1236C>G (p.Thr412=) c.1221C>G (p.Thr407=) c.726C>G (p.Thr242=) c.537C>G (p.Thr179=) | |
10 | g.86716613C>T | CA470375801 | LDB3 | n.515-2114C>T c.1329C>T (p.Thr443=) c.1377C>T (p.Thr459=) c.1518C>T (p.Thr506=) c.1188C>T (p.Thr396=) c.1533C>T (p.Thr511=) c.1770C>T (p.Thr590=) c.1722C>T (p.Thr574=) c.1581C>T (p.Thr527=) c.1566C>T (p.Thr522=) c.1425C>T (p.Thr475=) c.1236C>T (p.Thr412=) c.1221C>T (p.Thr407=) c.726C>T (p.Thr242=) c.537C>T (p.Thr179=) | |
10 | g.86716614A= | CA1925631960 | LDB3 | n.515-2113A= c.1330A= (p.Thr444=) c.1378A= (p.Thr460=) c.1519A= (p.Thr507=) c.1189A= (p.Thr397=) c.1534A= (p.Thr512=) c.1771A= (p.Thr591=) c.1723A= (p.Thr575=) c.1582A= (p.Thr528=) c.1567A= (p.Thr523=) c.1426A= (p.Thr476=) c.1237A= (p.Thr413=) c.1222A= (p.Thr408=) c.727A= (p.Thr243=) c.538A= (p.Thr180=) | |
10 | g.86716614A>C | CA377451131 | LDB3 | n.515-2113A>C c.1330A>C (p.Thr444Pro) c.1378A>C (p.Thr460Pro) c.1519A>C (p.Thr507Pro) c.1189A>C (p.Thr397Pro) c.1534A>C (p.Thr512Pro) c.1771A>C (p.Thr591Pro) c.1723A>C (p.Thr575Pro) c.1582A>C (p.Thr528Pro) c.1567A>C (p.Thr523Pro) c.1426A>C (p.Thr476Pro) c.1237A>C (p.Thr413Pro) c.1222A>C (p.Thr408Pro) c.727A>C (p.Thr243Pro) c.538A>C (p.Thr180Pro) | dbSNP |
10 | g.86716614A>G | CA377451135 | LDB3 | n.515-2113A>G c.1330A>G (p.Thr444Ala) c.1378A>G (p.Thr460Ala) c.1519A>G (p.Thr507Ala) c.1189A>G (p.Thr397Ala) c.1534A>G (p.Thr512Ala) c.1771A>G (p.Thr591Ala) c.1723A>G (p.Thr575Ala) c.1582A>G (p.Thr528Ala) c.1567A>G (p.Thr523Ala) c.1426A>G (p.Thr476Ala) c.1237A>G (p.Thr413Ala) c.1222A>G (p.Thr408Ala) c.727A>G (p.Thr243Ala) c.538A>G (p.Thr180Ala) | |
10 | g.86716614A>T | CA377451133 | LDB3 | n.515-2113A>T c.1330A>T (p.Thr444Ser) c.1378A>T (p.Thr460Ser) c.1519A>T (p.Thr507Ser) c.1189A>T (p.Thr397Ser) c.1534A>T (p.Thr512Ser) c.1771A>T (p.Thr591Ser) c.1723A>T (p.Thr575Ser) c.1582A>T (p.Thr528Ser) c.1567A>T (p.Thr523Ser) c.1426A>T (p.Thr476Ser) c.1237A>T (p.Thr413Ser) c.1222A>T (p.Thr408Ser) c.727A>T (p.Thr243Ser) c.538A>T (p.Thr180Ser) | |
10 | g.86716615C>A | CA5585176 | LDB3 | n.515-2112C>A c.1331C>A (p.Thr444Asn) c.1379C>A (p.Thr460Asn) c.1520C>A (p.Thr507Asn) c.1190C>A (p.Thr397Asn) c.1535C>A (p.Thr512Asn) c.1772C>A (p.Thr591Asn) c.1724C>A (p.Thr575Asn) c.1583C>A (p.Thr528Asn) c.1568C>A (p.Thr523Asn) c.1427C>A (p.Thr476Asn) c.1238C>A (p.Thr413Asn) c.1223C>A (p.Thr408Asn) c.728C>A (p.Thr243Asn) c.539C>A (p.Thr180Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86716615C= | CA1925631961 | LDB3 | n.515-2112C= c.1331C= (p.Thr444=) c.1379C= (p.Thr460=) c.1520C= (p.Thr507=) c.1190C= (p.Thr397=) c.1535C= (p.Thr512=) c.1772C= (p.Thr591=) c.1724C= (p.Thr575=) c.1583C= (p.Thr528=) c.1568C= (p.Thr523=) c.1427C= (p.Thr476=) c.1238C= (p.Thr413=) c.1223C= (p.Thr408=) c.728C= (p.Thr243=) c.539C= (p.Thr180=) | |
10 | g.86716615C>G | CA377451138 | LDB3 | n.515-2112C>G c.1331C>G (p.Thr444Ser) c.1379C>G (p.Thr460Ser) c.1520C>G (p.Thr507Ser) c.1190C>G (p.Thr397Ser) c.1535C>G (p.Thr512Ser) c.1772C>G (p.Thr591Ser) c.1724C>G (p.Thr575Ser) c.1583C>G (p.Thr528Ser) c.1568C>G (p.Thr523Ser) c.1427C>G (p.Thr476Ser) c.1238C>G (p.Thr413Ser) c.1223C>G (p.Thr408Ser) c.728C>G (p.Thr243Ser) c.539C>G (p.Thr180Ser) | |
10 | g.86716615C>T | CA377451140 | LDB3 | n.515-2112C>T c.1331C>T (p.Thr444Ile) c.1379C>T (p.Thr460Ile) c.1520C>T (p.Thr507Ile) c.1190C>T (p.Thr397Ile) c.1535C>T (p.Thr512Ile) c.1772C>T (p.Thr591Ile) c.1724C>T (p.Thr575Ile) c.1583C>T (p.Thr528Ile) c.1568C>T (p.Thr523Ile) c.1427C>T (p.Thr476Ile) c.1238C>T (p.Thr413Ile) c.1223C>T (p.Thr408Ile) c.728C>T (p.Thr243Ile) c.539C>T (p.Thr180Ile) | ClinVar gnomAD v4 COSMIC COSMIC COSMIC |
10 | g.86716616C>A | CA470375815 | LDB3 | n.515-2111C>A c.1332C>A (p.Thr444=) c.1380C>A (p.Thr460=) c.1521C>A (p.Thr507=) c.1191C>A (p.Thr397=) c.1536C>A (p.Thr512=) c.1773C>A (p.Thr591=) c.1725C>A (p.Thr575=) c.1584C>A (p.Thr528=) c.1569C>A (p.Thr523=) c.1428C>A (p.Thr476=) c.1239C>A (p.Thr413=) c.1224C>A (p.Thr408=) c.729C>A (p.Thr243=) c.540C>A (p.Thr180=) | |
10 | g.86716616C= | CA1925631962 | LDB3 | n.515-2111C= c.1332C= (p.Thr444=) c.1380C= (p.Thr460=) c.1521C= (p.Thr507=) c.1191C= (p.Thr397=) c.1536C= (p.Thr512=) c.1773C= (p.Thr591=) c.1725C= (p.Thr575=) c.1584C= (p.Thr528=) c.1569C= (p.Thr523=) c.1428C= (p.Thr476=) c.1239C= (p.Thr413=) c.1224C= (p.Thr408=) c.729C= (p.Thr243=) c.540C= (p.Thr180=) | |
10 | g.86716616C>G | CA470375816 | LDB3 | n.515-2111C>G c.1332C>G (p.Thr444=) c.1380C>G (p.Thr460=) c.1521C>G (p.Thr507=) c.1191C>G (p.Thr397=) c.1536C>G (p.Thr512=) c.1773C>G (p.Thr591=) c.1725C>G (p.Thr575=) c.1584C>G (p.Thr528=) c.1569C>G (p.Thr523=) c.1428C>G (p.Thr476=) c.1239C>G (p.Thr413=) c.1224C>G (p.Thr408=) c.729C>G (p.Thr243=) c.540C>G (p.Thr180=) | |
10 | g.86716616C>T | CA5585177 | LDB3 | n.515-2111C>T c.1332C>T (p.Thr444=) c.1380C>T (p.Thr460=) c.1521C>T (p.Thr507=) c.1191C>T (p.Thr397=) c.1536C>T (p.Thr512=) c.1773C>T (p.Thr591=) c.1725C>T (p.Thr575=) c.1584C>T (p.Thr528=) c.1569C>T (p.Thr523=) c.1428C>T (p.Thr476=) c.1239C>T (p.Thr413=) c.1224C>T (p.Thr408=) c.729C>T (p.Thr243=) c.540C>T (p.Thr180=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86716617T>A | CA377451147 | LDB3 | n.515-2110T>A c.1333T>A (p.Ser445Thr) c.1381T>A (p.Ser461Thr) c.1522T>A (p.Ser508Thr) c.1192T>A (p.Ser398Thr) c.1537T>A (p.Ser513Thr) c.1774T>A (p.Ser592Thr) c.1726T>A (p.Ser576Thr) c.1585T>A (p.Ser529Thr) c.1570T>A (p.Ser524Thr) c.1429T>A (p.Ser477Thr) c.1240T>A (p.Ser414Thr) c.1225T>A (p.Ser409Thr) c.730T>A (p.Ser244Thr) c.541T>A (p.Ser181Thr) | |
10 | g.86716617T>C | CA377451144 | LDB3 | n.515-2110T>C c.1333T>C (p.Ser445Pro) c.1381T>C (p.Ser461Pro) c.1522T>C (p.Ser508Pro) c.1192T>C (p.Ser398Pro) c.1537T>C (p.Ser513Pro) c.1774T>C (p.Ser592Pro) c.1726T>C (p.Ser576Pro) c.1585T>C (p.Ser529Pro) c.1570T>C (p.Ser524Pro) c.1429T>C (p.Ser477Pro) c.1240T>C (p.Ser414Pro) c.1225T>C (p.Ser409Pro) c.730T>C (p.Ser244Pro) c.541T>C (p.Ser181Pro) | |
10 | g.86716617T>G | CA377451145 | LDB3 | n.515-2110T>G c.1333T>G (p.Ser445Ala) c.1381T>G (p.Ser461Ala) c.1522T>G (p.Ser508Ala) c.1192T>G (p.Ser398Ala) c.1537T>G (p.Ser513Ala) c.1774T>G (p.Ser592Ala) c.1726T>G (p.Ser576Ala) c.1585T>G (p.Ser529Ala) c.1570T>G (p.Ser524Ala) c.1429T>G (p.Ser477Ala) c.1240T>G (p.Ser414Ala) c.1225T>G (p.Ser409Ala) c.730T>G (p.Ser244Ala) c.541T>G (p.Ser181Ala) | |
10 | g.86716618C>A | CA377451148 | LDB3 | n.515-2109C>A c.1334C>A (p.Ser445Tyr) c.1382C>A (p.Ser461Tyr) c.1523C>A (p.Ser508Tyr) c.1193C>A (p.Ser398Tyr) c.1538C>A (p.Ser513Tyr) c.1775C>A (p.Ser592Tyr) c.1727C>A (p.Ser576Tyr) c.1586C>A (p.Ser529Tyr) c.1571C>A (p.Ser524Tyr) c.1430C>A (p.Ser477Tyr) c.1241C>A (p.Ser414Tyr) c.1226C>A (p.Ser409Tyr) c.731C>A (p.Ser244Tyr) c.542C>A (p.Ser181Tyr) | |
10 | g.86716618C>G | CA377451149 | LDB3 | n.515-2109C>G c.1334C>G (p.Ser445Cys) c.1382C>G (p.Ser461Cys) c.1523C>G (p.Ser508Cys) c.1193C>G (p.Ser398Cys) c.1538C>G (p.Ser513Cys) c.1775C>G (p.Ser592Cys) c.1727C>G (p.Ser576Cys) c.1586C>G (p.Ser529Cys) c.1571C>G (p.Ser524Cys) c.1430C>G (p.Ser477Cys) c.1241C>G (p.Ser414Cys) c.1226C>G (p.Ser409Cys) c.731C>G (p.Ser244Cys) c.542C>G (p.Ser181Cys) | |
10 | g.86716618C>T | CA377451154 | LDB3 | n.515-2109C>T c.1334C>T (p.Ser445Phe) c.1382C>T (p.Ser461Phe) c.1523C>T (p.Ser508Phe) c.1193C>T (p.Ser398Phe) c.1538C>T (p.Ser513Phe) c.1775C>T (p.Ser592Phe) c.1727C>T (p.Ser576Phe) c.1586C>T (p.Ser529Phe) c.1571C>T (p.Ser524Phe) c.1430C>T (p.Ser477Phe) c.1241C>T (p.Ser414Phe) c.1226C>T (p.Ser409Phe) c.731C>T (p.Ser244Phe) c.542C>T (p.Ser181Phe) | |
10 | g.86716619C>A | CA470375833 | LDB3 | n.515-2108C>A c.1335C>A (p.Ser445=) c.1383C>A (p.Ser461=) c.1524C>A (p.Ser508=) c.1194C>A (p.Ser398=) c.1539C>A (p.Ser513=) c.1776C>A (p.Ser592=) c.1728C>A (p.Ser576=) c.1587C>A (p.Ser529=) c.1572C>A (p.Ser524=) c.1431C>A (p.Ser477=) c.1242C>A (p.Ser414=) c.1227C>A (p.Ser409=) c.732C>A (p.Ser244=) c.543C>A (p.Ser181=) | |
10 | g.86716619C>G | CA470375835 | LDB3 | n.515-2108C>G c.1335C>G (p.Ser445=) c.1383C>G (p.Ser461=) c.1524C>G (p.Ser508=) c.1194C>G (p.Ser398=) c.1539C>G (p.Ser513=) c.1776C>G (p.Ser592=) c.1728C>G (p.Ser576=) c.1587C>G (p.Ser529=) c.1572C>G (p.Ser524=) c.1431C>G (p.Ser477=) c.1242C>G (p.Ser414=) c.1227C>G (p.Ser409=) c.732C>G (p.Ser244=) c.543C>G (p.Ser181=) | |
10 | g.86716619C>T | CA470375838 | LDB3 | n.515-2108C>T c.1335C>T (p.Ser445=) c.1383C>T (p.Ser461=) c.1524C>T (p.Ser508=) c.1194C>T (p.Ser398=) c.1539C>T (p.Ser513=) c.1776C>T (p.Ser592=) c.1728C>T (p.Ser576=) c.1587C>T (p.Ser529=) c.1572C>T (p.Ser524=) c.1431C>T (p.Ser477=) c.1242C>T (p.Ser414=) c.1227C>T (p.Ser409=) c.732C>T (p.Ser244=) c.543C>T (p.Ser181=) | gnomAD v4 |
10 | g.86716620A>C | CA377451157 | LDB3 | n.515-2107A>C c.1336A>C (p.Ile446Leu) c.1384A>C (p.Ile462Leu) c.1525A>C (p.Ile509Leu) c.1195A>C (p.Ile399Leu) c.1540A>C (p.Ile514Leu) c.1777A>C (p.Ile593Leu) c.1729A>C (p.Ile577Leu) c.1588A>C (p.Ile530Leu) c.1573A>C (p.Ile525Leu) c.1432A>C (p.Ile478Leu) c.1243A>C (p.Ile415Leu) c.1228A>C (p.Ile410Leu) c.733A>C (p.Ile245Leu) c.544A>C (p.Ile182Leu) | |
10 | g.86716620A>G | CA377451159 | LDB3 | n.515-2107A>G c.1336A>G (p.Ile446Val) c.1384A>G (p.Ile462Val) c.1525A>G (p.Ile509Val) c.1195A>G (p.Ile399Val) c.1540A>G (p.Ile514Val) c.1777A>G (p.Ile593Val) c.1729A>G (p.Ile577Val) c.1588A>G (p.Ile530Val) c.1573A>G (p.Ile525Val) c.1432A>G (p.Ile478Val) c.1243A>G (p.Ile415Val) c.1228A>G (p.Ile410Val) c.733A>G (p.Ile245Val) c.544A>G (p.Ile182Val) | gnomAD v4 |
10 | g.86716620A>T | CA377451161 | LDB3 | n.515-2107A>T c.1336A>T (p.Ile446Phe) c.1384A>T (p.Ile462Phe) c.1525A>T (p.Ile509Phe) c.1195A>T (p.Ile399Phe) c.1540A>T (p.Ile514Phe) c.1777A>T (p.Ile593Phe) c.1729A>T (p.Ile577Phe) c.1588A>T (p.Ile530Phe) c.1573A>T (p.Ile525Phe) c.1432A>T (p.Ile478Phe) c.1243A>T (p.Ile415Phe) c.1228A>T (p.Ile410Phe) c.733A>T (p.Ile245Phe) c.544A>T (p.Ile182Phe) | |
10 | g.86716621T>A | CA377451162 | LDB3 | n.515-2106T>A c.1337T>A (p.Ile446Asn) c.1385T>A (p.Ile462Asn) c.1526T>A (p.Ile509Asn) c.1196T>A (p.Ile399Asn) c.1541T>A (p.Ile514Asn) c.1778T>A (p.Ile593Asn) c.1730T>A (p.Ile577Asn) c.1589T>A (p.Ile530Asn) c.1574T>A (p.Ile525Asn) c.1433T>A (p.Ile478Asn) c.1244T>A (p.Ile415Asn) c.1229T>A (p.Ile410Asn) c.734T>A (p.Ile245Asn) c.545T>A (p.Ile182Asn) | |
10 | g.86716621T>C | CA377451164 | LDB3 | n.515-2106T>C c.1337T>C (p.Ile446Thr) c.1385T>C (p.Ile462Thr) c.1526T>C (p.Ile509Thr) c.1196T>C (p.Ile399Thr) c.1541T>C (p.Ile514Thr) c.1778T>C (p.Ile593Thr) c.1730T>C (p.Ile577Thr) c.1589T>C (p.Ile530Thr) c.1574T>C (p.Ile525Thr) c.1433T>C (p.Ile478Thr) c.1244T>C (p.Ile415Thr) c.1229T>C (p.Ile410Thr) c.734T>C (p.Ile245Thr) c.545T>C (p.Ile182Thr) | |
10 | g.86716621T>G | CA377451166 | LDB3 | n.515-2106T>G c.1337T>G (p.Ile446Ser) c.1385T>G (p.Ile462Ser) c.1526T>G (p.Ile509Ser) c.1196T>G (p.Ile399Ser) c.1541T>G (p.Ile514Ser) c.1778T>G (p.Ile593Ser) c.1730T>G (p.Ile577Ser) c.1589T>G (p.Ile530Ser) c.1574T>G (p.Ile525Ser) c.1433T>G (p.Ile478Ser) c.1244T>G (p.Ile415Ser) c.1229T>G (p.Ile410Ser) c.734T>G (p.Ile245Ser) c.545T>G (p.Ile182Ser) | |
10 | g.86716622C>A | CA470375852 | LDB3 | n.515-2105C>A c.1338C>A (p.Ile446=) c.1386C>A (p.Ile462=) c.1527C>A (p.Ile509=) c.1197C>A (p.Ile399=) c.1542C>A (p.Ile514=) c.1779C>A (p.Ile593=) c.1731C>A (p.Ile577=) c.1590C>A (p.Ile530=) c.1575C>A (p.Ile525=) c.1434C>A (p.Ile478=) c.1245C>A (p.Ile415=) c.1230C>A (p.Ile410=) c.735C>A (p.Ile245=) c.546C>A (p.Ile182=) | |
10 | g.86716622C>G | CA377451168 | LDB3 | n.515-2105C>G c.1338C>G (p.Ile446Met) c.1386C>G (p.Ile462Met) c.1527C>G (p.Ile509Met) c.1197C>G (p.Ile399Met) c.1542C>G (p.Ile514Met) c.1779C>G (p.Ile593Met) c.1731C>G (p.Ile577Met) c.1590C>G (p.Ile530Met) c.1575C>G (p.Ile525Met) c.1434C>G (p.Ile478Met) c.1245C>G (p.Ile415Met) c.1230C>G (p.Ile410Met) c.735C>G (p.Ile245Met) c.546C>G (p.Ile182Met) | |
10 | g.86716622C>T | CA470375856 | LDB3 | n.515-2105C>T c.1338C>T (p.Ile446=) c.1386C>T (p.Ile462=) c.1527C>T (p.Ile509=) c.1197C>T (p.Ile399=) c.1542C>T (p.Ile514=) c.1779C>T (p.Ile593=) c.1731C>T (p.Ile577=) c.1590C>T (p.Ile530=) c.1575C>T (p.Ile525=) c.1434C>T (p.Ile478=) c.1245C>T (p.Ile415=) c.1230C>T (p.Ile410=) c.735C>T (p.Ile245=) c.546C>T (p.Ile182=) | |
10 | g.86716623del | CA2609997615 | LDB3 | n.515-2104del c.1339del (p.Ser447AlafsTer?) c.1387del (p.Ser463AlafsTer?) c.1528del (p.Ser510AlafsTer?) c.1198del (p.Ser400AlafsTer?) c.1543del (p.Ser515AlafsTer?) c.1780del (p.Ser594AlafsTer?) c.1732del (p.Ser578AlafsTer?) c.1591del (p.Ser531AlafsTer?) c.1576del (p.Ser526AlafsTer?) c.1435del (p.Ser479AlafsTer?) c.1246del (p.Ser416AlafsTer?) c.1231del (p.Ser411AlafsTer?) c.736del (p.Ser246AlafsTer?) c.547del (p.Ser183AlafsTer?) | gnomAD v4 |
10 | g.86716623A>C | CA377451171 | LDB3 | n.515-2104A>C c.1339A>C (p.Ser447Arg) c.1387A>C (p.Ser463Arg) c.1528A>C (p.Ser510Arg) c.1198A>C (p.Ser400Arg) c.1543A>C (p.Ser515Arg) c.1780A>C (p.Ser594Arg) c.1732A>C (p.Ser578Arg) c.1591A>C (p.Ser531Arg) c.1576A>C (p.Ser526Arg) c.1435A>C (p.Ser479Arg) c.1246A>C (p.Ser416Arg) c.1231A>C (p.Ser411Arg) c.736A>C (p.Ser246Arg) c.547A>C (p.Ser183Arg) | |
10 | g.86716623A>G | CA377451172 | LDB3 | n.515-2104A>G c.1339A>G (p.Ser447Gly) c.1387A>G (p.Ser463Gly) c.1528A>G (p.Ser510Gly) c.1198A>G (p.Ser400Gly) c.1543A>G (p.Ser515Gly) c.1780A>G (p.Ser594Gly) c.1732A>G (p.Ser578Gly) c.1591A>G (p.Ser531Gly) c.1576A>G (p.Ser526Gly) c.1435A>G (p.Ser479Gly) c.1246A>G (p.Ser416Gly) c.1231A>G (p.Ser411Gly) c.736A>G (p.Ser246Gly) c.547A>G (p.Ser183Gly) | |
10 | g.86716623A>T | CA377451174 | LDB3 | n.515-2104A>T c.1339A>T (p.Ser447Cys) c.1387A>T (p.Ser463Cys) c.1528A>T (p.Ser510Cys) c.1198A>T (p.Ser400Cys) c.1543A>T (p.Ser515Cys) c.1780A>T (p.Ser594Cys) c.1732A>T (p.Ser578Cys) c.1591A>T (p.Ser531Cys) c.1576A>T (p.Ser526Cys) c.1435A>T (p.Ser479Cys) c.1246A>T (p.Ser416Cys) c.1231A>T (p.Ser411Cys) c.736A>T (p.Ser246Cys) c.547A>T (p.Ser183Cys) | |
10 | g.86716624G>A | CA5585178 | LDB3 | n.515-2103G>A c.1340G>A (p.Ser447Asn) c.1388G>A (p.Ser463Asn) c.1529G>A (p.Ser510Asn) c.1199G>A (p.Ser400Asn) c.1544G>A (p.Ser515Asn) c.1781G>A (p.Ser594Asn) c.1733G>A (p.Ser578Asn) c.1592G>A (p.Ser531Asn) c.1577G>A (p.Ser526Asn) c.1436G>A (p.Ser479Asn) c.1247G>A (p.Ser416Asn) c.1232G>A (p.Ser411Asn) c.737G>A (p.Ser246Asn) c.548G>A (p.Ser183Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86716624G>C | CA377451179 | LDB3 | n.515-2103G>C c.1340G>C (p.Ser447Thr) c.1388G>C (p.Ser463Thr) c.1529G>C (p.Ser510Thr) c.1199G>C (p.Ser400Thr) c.1544G>C (p.Ser515Thr) c.1781G>C (p.Ser594Thr) c.1733G>C (p.Ser578Thr) c.1592G>C (p.Ser531Thr) c.1577G>C (p.Ser526Thr) c.1436G>C (p.Ser479Thr) c.1247G>C (p.Ser416Thr) c.1232G>C (p.Ser411Thr) c.737G>C (p.Ser246Thr) c.548G>C (p.Ser183Thr) | |
10 | g.86716624G= | CA1925631963 | LDB3 | n.515-2103G= c.1340G= (p.Ser447=) c.1388G= (p.Ser463=) c.1529G= (p.Ser510=) c.1199G= (p.Ser400=) c.1544G= (p.Ser515=) c.1781G= (p.Ser594=) c.1733G= (p.Ser578=) c.1592G= (p.Ser531=) c.1577G= (p.Ser526=) c.1436G= (p.Ser479=) c.1247G= (p.Ser416=) c.1232G= (p.Ser411=) c.737G= (p.Ser246=) c.548G= (p.Ser183=) | |
10 | g.86716624G>T | CA377451177 | LDB3 | n.515-2103G>T c.1340G>T (p.Ser447Ile) c.1388G>T (p.Ser463Ile) c.1529G>T (p.Ser510Ile) c.1199G>T (p.Ser400Ile) c.1544G>T (p.Ser515Ile) c.1781G>T (p.Ser594Ile) c.1733G>T (p.Ser578Ile) c.1592G>T (p.Ser531Ile) c.1577G>T (p.Ser526Ile) c.1436G>T (p.Ser479Ile) c.1247G>T (p.Ser416Ile) c.1232G>T (p.Ser411Ile) c.737G>T (p.Ser246Ile) c.548G>T (p.Ser183Ile) | |
10 | g.86716625C>A | CA377451182 | LDB3 | n.515-2102C>A c.1341C>A (p.Ser447Arg) c.1389C>A (p.Ser463Arg) c.1530C>A (p.Ser510Arg) c.1200C>A (p.Ser400Arg) c.1545C>A (p.Ser515Arg) c.1782C>A (p.Ser594Arg) c.1734C>A (p.Ser578Arg) c.1593C>A (p.Ser531Arg) c.1578C>A (p.Ser526Arg) c.1437C>A (p.Ser479Arg) c.1248C>A (p.Ser416Arg) c.1233C>A (p.Ser411Arg) c.738C>A (p.Ser246Arg) c.549C>A (p.Ser183Arg) | |
10 | g.86716625C>G | CA377451184 | LDB3 | n.515-2102C>G c.1341C>G (p.Ser447Arg) c.1389C>G (p.Ser463Arg) c.1530C>G (p.Ser510Arg) c.1200C>G (p.Ser400Arg) c.1545C>G (p.Ser515Arg) c.1782C>G (p.Ser594Arg) c.1734C>G (p.Ser578Arg) c.1593C>G (p.Ser531Arg) c.1578C>G (p.Ser526Arg) c.1437C>G (p.Ser479Arg) c.1248C>G (p.Ser416Arg) c.1233C>G (p.Ser411Arg) c.738C>G (p.Ser246Arg) c.549C>G (p.Ser183Arg) | |
10 | g.86716625C>T | CA470375874 | LDB3 | n.515-2102C>T c.1341C>T (p.Ser447=) c.1389C>T (p.Ser463=) c.1530C>T (p.Ser510=) c.1200C>T (p.Ser400=) c.1545C>T (p.Ser515=) c.1782C>T (p.Ser594=) c.1734C>T (p.Ser578=) c.1593C>T (p.Ser531=) c.1578C>T (p.Ser526=) c.1437C>T (p.Ser479=) c.1248C>T (p.Ser416=) c.1233C>T (p.Ser411=) c.738C>T (p.Ser246=) c.549C>T (p.Ser183=) | |
10 | g.86716626A>C | CA377451187 | LDB3 | n.515-2101A>C c.1342A>C (p.Lys448Gln) c.1390A>C (p.Lys464Gln) c.1531A>C (p.Lys511Gln) c.1201A>C (p.Lys401Gln) c.1546A>C (p.Lys516Gln) c.1783A>C (p.Lys595Gln) c.1735A>C (p.Lys579Gln) c.1594A>C (p.Lys532Gln) c.1579A>C (p.Lys527Gln) c.1438A>C (p.Lys480Gln) c.1249A>C (p.Lys417Gln) c.1234A>C (p.Lys412Gln) c.739A>C (p.Lys247Gln) c.550A>C (p.Lys184Gln) | |
10 | g.86716626A>G | CA377451188 | LDB3 | n.515-2101A>G c.1342A>G (p.Lys448Glu) c.1390A>G (p.Lys464Glu) c.1531A>G (p.Lys511Glu) c.1201A>G (p.Lys401Glu) c.1546A>G (p.Lys516Glu) c.1783A>G (p.Lys595Glu) c.1735A>G (p.Lys579Glu) c.1594A>G (p.Lys532Glu) c.1579A>G (p.Lys527Glu) c.1438A>G (p.Lys480Glu) c.1249A>G (p.Lys417Glu) c.1234A>G (p.Lys412Glu) c.739A>G (p.Lys247Glu) c.550A>G (p.Lys184Glu) | |
10 | g.86716626A>T | CA377451190 | LDB3 | n.515-2101A>T c.1342A>T (p.Lys448Ter) c.1390A>T (p.Lys464Ter) c.1531A>T (p.Lys511Ter) c.1201A>T (p.Lys401Ter) c.1546A>T (p.Lys516Ter) c.1783A>T (p.Lys595Ter) c.1735A>T (p.Lys579Ter) c.1594A>T (p.Lys532Ter) c.1579A>T (p.Lys527Ter) c.1438A>T (p.Lys480Ter) c.1249A>T (p.Lys417Ter) c.1234A>T (p.Lys412Ter) c.739A>T (p.Lys247Ter) c.550A>T (p.Lys184Ter) | |
10 | g.86716627A>C | CA377451192 | LDB3 | n.515-2100A>C c.1343A>C (p.Lys448Thr) c.1391A>C (p.Lys464Thr) c.1532A>C (p.Lys511Thr) c.1202A>C (p.Lys401Thr) c.1547A>C (p.Lys516Thr) c.1784A>C (p.Lys595Thr) c.1736A>C (p.Lys579Thr) c.1595A>C (p.Lys532Thr) c.1580A>C (p.Lys527Thr) c.1439A>C (p.Lys480Thr) c.1250A>C (p.Lys417Thr) c.1235A>C (p.Lys412Thr) c.740A>C (p.Lys247Thr) c.551A>C (p.Lys184Thr) | |
10 | g.86716627A>G | CA377451194 | LDB3 | n.515-2100A>G c.1343A>G (p.Lys448Arg) c.1391A>G (p.Lys464Arg) c.1532A>G (p.Lys511Arg) c.1202A>G (p.Lys401Arg) c.1547A>G (p.Lys516Arg) c.1784A>G (p.Lys595Arg) c.1736A>G (p.Lys579Arg) c.1595A>G (p.Lys532Arg) c.1580A>G (p.Lys527Arg) c.1439A>G (p.Lys480Arg) c.1250A>G (p.Lys417Arg) c.1235A>G (p.Lys412Arg) c.740A>G (p.Lys247Arg) c.551A>G (p.Lys184Arg) | |
10 | g.86716627A>T | CA377451197 | LDB3 | n.515-2100A>T c.1343A>T (p.Lys448Met) c.1391A>T (p.Lys464Met) c.1532A>T (p.Lys511Met) c.1202A>T (p.Lys401Met) c.1547A>T (p.Lys516Met) c.1784A>T (p.Lys595Met) c.1736A>T (p.Lys579Met) c.1595A>T (p.Lys532Met) c.1580A>T (p.Lys527Met) c.1439A>T (p.Lys480Met) c.1250A>T (p.Lys417Met) c.1235A>T (p.Lys412Met) c.740A>T (p.Lys247Met) c.551A>T (p.Lys184Met) | |
10 | g.86716628G>A | CA470375888 | LDB3 | n.515-2099G>A c.1344G>A (p.Lys448=) c.1392G>A (p.Lys464=) c.1533G>A (p.Lys511=) c.1203G>A (p.Lys401=) c.1548G>A (p.Lys516=) c.1785G>A (p.Lys595=) c.1737G>A (p.Lys579=) c.1596G>A (p.Lys532=) c.1581G>A (p.Lys527=) c.1440G>A (p.Lys480=) c.1251G>A (p.Lys417=) c.1236G>A (p.Lys412=) c.741G>A (p.Lys247=) c.552G>A (p.Lys184=) | |
10 | g.86716628G>C | CA377451198 | LDB3 | n.515-2099G>C c.1344G>C (p.Lys448Asn) c.1392G>C (p.Lys464Asn) c.1533G>C (p.Lys511Asn) c.1203G>C (p.Lys401Asn) c.1548G>C (p.Lys516Asn) c.1785G>C (p.Lys595Asn) c.1737G>C (p.Lys579Asn) c.1596G>C (p.Lys532Asn) c.1581G>C (p.Lys527Asn) c.1440G>C (p.Lys480Asn) c.1251G>C (p.Lys417Asn) c.1236G>C (p.Lys412Asn) c.741G>C (p.Lys247Asn) c.552G>C (p.Lys184Asn) | |
10 | g.86716628G>T | CA377451199 | LDB3 | n.515-2099G>T c.1344G>T (p.Lys448Asn) c.1392G>T (p.Lys464Asn) c.1533G>T (p.Lys511Asn) c.1203G>T (p.Lys401Asn) c.1548G>T (p.Lys516Asn) c.1785G>T (p.Lys595Asn) c.1737G>T (p.Lys579Asn) c.1596G>T (p.Lys532Asn) c.1581G>T (p.Lys527Asn) c.1440G>T (p.Lys480Asn) c.1251G>T (p.Lys417Asn) c.1236G>T (p.Lys412Asn) c.741G>T (p.Lys247Asn) c.552G>T (p.Lys184Asn) | |
10 | g.86716629C>A | CA377451200 | LDB3 | n.515-2098C>A c.1345C>A (p.Gln449Lys) c.1393C>A (p.Gln465Lys) c.1534C>A (p.Gln512Lys) c.1204C>A (p.Gln402Lys) c.1549C>A (p.Gln517Lys) c.1786C>A (p.Gln596Lys) c.1738C>A (p.Gln580Lys) c.1597C>A (p.Gln533Lys) c.1582C>A (p.Gln528Lys) c.1441C>A (p.Gln481Lys) c.1252C>A (p.Gln418Lys) c.1237C>A (p.Gln413Lys) c.742C>A (p.Gln248Lys) c.553C>A (p.Gln185Lys) | |
10 | g.86716629C>G | CA377451201 | LDB3 | n.515-2098C>G c.1345C>G (p.Gln449Glu) c.1393C>G (p.Gln465Glu) c.1534C>G (p.Gln512Glu) c.1204C>G (p.Gln402Glu) c.1549C>G (p.Gln517Glu) c.1786C>G (p.Gln596Glu) c.1738C>G (p.Gln580Glu) c.1597C>G (p.Gln533Glu) c.1582C>G (p.Gln528Glu) c.1441C>G (p.Gln481Glu) c.1252C>G (p.Gln418Glu) c.1237C>G (p.Gln413Glu) c.742C>G (p.Gln248Glu) c.553C>G (p.Gln185Glu) | |
10 | g.86716629C>T | CA377451203 | LDB3 | n.515-2098C>T c.1345C>T (p.Gln449Ter) c.1393C>T (p.Gln465Ter) c.1534C>T (p.Gln512Ter) c.1204C>T (p.Gln402Ter) c.1549C>T (p.Gln517Ter) c.1786C>T (p.Gln596Ter) c.1738C>T (p.Gln580Ter) c.1597C>T (p.Gln533Ter) c.1582C>T (p.Gln528Ter) c.1441C>T (p.Gln481Ter) c.1252C>T (p.Gln418Ter) c.1237C>T (p.Gln413Ter) c.742C>T (p.Gln248Ter) c.553C>T (p.Gln185Ter) | gnomAD v4 |
10 | g.86716630A= | CA1925631964 | LDB3 | n.515-2097A= c.1346A= (p.Gln449=) c.1394A= (p.Gln465=) c.1535A= (p.Gln512=) c.1205A= (p.Gln402=) c.1550A= (p.Gln517=) c.1787A= (p.Gln596=) c.1739A= (p.Gln580=) c.1598A= (p.Gln533=) c.1583A= (p.Gln528=) c.1442A= (p.Gln481=) c.1253A= (p.Gln418=) c.1238A= (p.Gln413=) c.743A= (p.Gln248=) c.554A= (p.Gln185=) | |
10 | g.86716630A>C | CA136539 | LDB3 | n.515-2097A>C c.1346A>C (p.Gln449Pro) c.1394A>C (p.Gln465Pro) c.1535A>C (p.Gln512Pro) c.1205A>C (p.Gln402Pro) c.1550A>C (p.Gln517Pro) c.1787A>C (p.Gln596Pro) c.1739A>C (p.Gln580Pro) c.1598A>C (p.Gln533Pro) c.1583A>C (p.Gln528Pro) c.1442A>C (p.Gln481Pro) c.1253A>C (p.Gln418Pro) c.1238A>C (p.Gln413Pro) c.743A>C (p.Gln248Pro) c.554A>C (p.Gln185Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86716630A>G | CA211205527 | LDB3 | n.515-2097A>G c.1346A>G (p.Gln449Arg) c.1394A>G (p.Gln465Arg) c.1535A>G (p.Gln512Arg) c.1205A>G (p.Gln402Arg) c.1550A>G (p.Gln517Arg) c.1787A>G (p.Gln596Arg) c.1739A>G (p.Gln580Arg) c.1598A>G (p.Gln533Arg) c.1583A>G (p.Gln528Arg) c.1442A>G (p.Gln481Arg) c.1253A>G (p.Gln418Arg) c.1238A>G (p.Gln413Arg) c.743A>G (p.Gln248Arg) c.554A>G (p.Gln185Arg) | ClinVar dbSNP gnomAD v4 |
10 | g.86716630A>T | CA377451208 | LDB3 | n.515-2097A>T c.1346A>T (p.Gln449Leu) c.1394A>T (p.Gln465Leu) c.1535A>T (p.Gln512Leu) c.1205A>T (p.Gln402Leu) c.1550A>T (p.Gln517Leu) c.1787A>T (p.Gln596Leu) c.1739A>T (p.Gln580Leu) c.1598A>T (p.Gln533Leu) c.1583A>T (p.Gln528Leu) c.1442A>T (p.Gln481Leu) c.1253A>T (p.Gln418Leu) c.1238A>T (p.Gln413Leu) c.743A>T (p.Gln248Leu) c.554A>T (p.Gln185Leu) | |
10 | g.86716631G>A | CA470375907 | LDB3 | n.515-2096G>A c.1347G>A (p.Gln449=) c.1395G>A (p.Gln465=) c.1536G>A (p.Gln512=) c.1206G>A (p.Gln402=) c.1551G>A (p.Gln517=) c.1788G>A (p.Gln596=) c.1740G>A (p.Gln580=) c.1599G>A (p.Gln533=) c.1584G>A (p.Gln528=) c.1443G>A (p.Gln481=) c.1254G>A (p.Gln418=) c.1239G>A (p.Gln413=) c.744G>A (p.Gln248=) c.555G>A (p.Gln185=) | |
10 | g.86716631G>C | CA377451210 | LDB3 | n.515-2096G>C c.1347G>C (p.Gln449His) c.1395G>C (p.Gln465His) c.1536G>C (p.Gln512His) c.1206G>C (p.Gln402His) c.1551G>C (p.Gln517His) c.1788G>C (p.Gln596His) c.1740G>C (p.Gln580His) c.1599G>C (p.Gln533His) c.1584G>C (p.Gln528His) c.1443G>C (p.Gln481His) c.1254G>C (p.Gln418His) c.1239G>C (p.Gln413His) c.744G>C (p.Gln248His) c.555G>C (p.Gln185His) | |
10 | g.86716631G>T | CA377451211 | LDB3 | n.515-2096G>T c.1347G>T (p.Gln449His) c.1395G>T (p.Gln465His) c.1536G>T (p.Gln512His) c.1206G>T (p.Gln402His) c.1551G>T (p.Gln517His) c.1788G>T (p.Gln596His) c.1740G>T (p.Gln580His) c.1599G>T (p.Gln533His) c.1584G>T (p.Gln528His) c.1443G>T (p.Gln481His) c.1254G>T (p.Gln418His) c.1239G>T (p.Gln413His) c.744G>T (p.Gln248His) c.555G>T (p.Gln185His) | |
10 | g.86716632A= | CA1925631965 | LDB3 | n.515-2095A= c.1348A= (p.Thr450=) c.1396A= (p.Thr466=) c.1537A= (p.Thr513=) c.1207A= (p.Thr403=) c.1552A= (p.Thr518=) c.1789A= (p.Thr597=) c.1741A= (p.Thr581=) c.1600A= (p.Thr534=) c.1585A= (p.Thr529=) c.1444A= (p.Thr482=) c.1255A= (p.Thr419=) c.1240A= (p.Thr414=) c.745A= (p.Thr249=) c.556A= (p.Thr186=) | |
10 | g.86716632A>C | CA377451212 | LDB3 | n.515-2095A>C c.1348A>C (p.Thr450Pro) c.1396A>C (p.Thr466Pro) c.1537A>C (p.Thr513Pro) c.1207A>C (p.Thr403Pro) c.1552A>C (p.Thr518Pro) c.1789A>C (p.Thr597Pro) c.1741A>C (p.Thr581Pro) c.1600A>C (p.Thr534Pro) c.1585A>C (p.Thr529Pro) c.1444A>C (p.Thr482Pro) c.1255A>C (p.Thr419Pro) c.1240A>C (p.Thr414Pro) c.745A>C (p.Thr249Pro) c.556A>C (p.Thr186Pro) | |
10 | g.86716632A>G | CA5585179 | LDB3 | n.515-2095A>G c.1348A>G (p.Thr450Ala) c.1396A>G (p.Thr466Ala) c.1537A>G (p.Thr513Ala) c.1207A>G (p.Thr403Ala) c.1552A>G (p.Thr518Ala) c.1789A>G (p.Thr597Ala) c.1741A>G (p.Thr581Ala) c.1600A>G (p.Thr534Ala) c.1585A>G (p.Thr529Ala) c.1444A>G (p.Thr482Ala) c.1255A>G (p.Thr419Ala) c.1240A>G (p.Thr414Ala) c.745A>G (p.Thr249Ala) c.556A>G (p.Thr186Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.86716632A>T | CA377451213 | LDB3 | n.515-2095A>T c.1348A>T (p.Thr450Ser) c.1396A>T (p.Thr466Ser) c.1537A>T (p.Thr513Ser) c.1207A>T (p.Thr403Ser) c.1552A>T (p.Thr518Ser) c.1789A>T (p.Thr597Ser) c.1741A>T (p.Thr581Ser) c.1600A>T (p.Thr534Ser) c.1585A>T (p.Thr529Ser) c.1444A>T (p.Thr482Ser) c.1255A>T (p.Thr419Ser) c.1240A>T (p.Thr414Ser) c.745A>T (p.Thr249Ser) c.556A>T (p.Thr186Ser) | |
10 | g.86716633C>A | CA5585180 | LDB3 | n.515-2094C>A c.1349C>A (p.Thr450Asn) c.1397C>A (p.Thr466Asn) c.1538C>A (p.Thr513Asn) c.1208C>A (p.Thr403Asn) c.1553C>A (p.Thr518Asn) c.1790C>A (p.Thr597Asn) c.1742C>A (p.Thr581Asn) c.1601C>A (p.Thr534Asn) c.1586C>A (p.Thr529Asn) c.1445C>A (p.Thr482Asn) c.1256C>A (p.Thr419Asn) c.1241C>A (p.Thr414Asn) c.746C>A (p.Thr249Asn) c.557C>A (p.Thr186Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86716633C= | CA1925631966 | LDB3 | n.515-2094C= c.1349C= (p.Thr450=) c.1397C= (p.Thr466=) c.1538C= (p.Thr513=) c.1208C= (p.Thr403=) c.1553C= (p.Thr518=) c.1790C= (p.Thr597=) c.1742C= (p.Thr581=) c.1601C= (p.Thr534=) c.1586C= (p.Thr529=) c.1445C= (p.Thr482=) c.1256C= (p.Thr419=) c.1241C= (p.Thr414=) c.746C= (p.Thr249=) c.557C= (p.Thr186=) | |
10 | g.86716633C>G | CA377451216 | LDB3 | n.515-2094C>G c.1349C>G (p.Thr450Ser) c.1397C>G (p.Thr466Ser) c.1538C>G (p.Thr513Ser) c.1208C>G (p.Thr403Ser) c.1553C>G (p.Thr518Ser) c.1790C>G (p.Thr597Ser) c.1742C>G (p.Thr581Ser) c.1601C>G (p.Thr534Ser) c.1586C>G (p.Thr529Ser) c.1445C>G (p.Thr482Ser) c.1256C>G (p.Thr419Ser) c.1241C>G (p.Thr414Ser) c.746C>G (p.Thr249Ser) c.557C>G (p.Thr186Ser) | |
10 | g.86716633C>T | CA377451219 | LDB3 | n.515-2094C>T c.1349C>T (p.Thr450Ile) c.1397C>T (p.Thr466Ile) c.1538C>T (p.Thr513Ile) c.1208C>T (p.Thr403Ile) c.1553C>T (p.Thr518Ile) c.1790C>T (p.Thr597Ile) c.1742C>T (p.Thr581Ile) c.1601C>T (p.Thr534Ile) c.1586C>T (p.Thr529Ile) c.1445C>T (p.Thr482Ile) c.1256C>T (p.Thr419Ile) c.1241C>T (p.Thr414Ile) c.746C>T (p.Thr249Ile) c.557C>T (p.Thr186Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86716634C>A | CA470375925 | LDB3 | n.515-2093C>A c.1350C>A (p.Thr450=) c.1398C>A (p.Thr466=) c.1539C>A (p.Thr513=) c.1209C>A (p.Thr403=) c.1554C>A (p.Thr518=) c.1791C>A (p.Thr597=) c.1743C>A (p.Thr581=) c.1602C>A (p.Thr534=) c.1587C>A (p.Thr529=) c.1446C>A (p.Thr482=) c.1257C>A (p.Thr419=) c.1242C>A (p.Thr414=) c.747C>A (p.Thr249=) c.558C>A (p.Thr186=) | |
10 | g.86716634C= | CA1925631967 | LDB3 | n.515-2093C= c.1350C= (p.Thr450=) c.1398C= (p.Thr466=) c.1539C= (p.Thr513=) c.1209C= (p.Thr403=) c.1554C= (p.Thr518=) c.1791C= (p.Thr597=) c.1743C= (p.Thr581=) c.1602C= (p.Thr534=) c.1587C= (p.Thr529=) c.1446C= (p.Thr482=) c.1257C= (p.Thr419=) c.1242C= (p.Thr414=) c.747C= (p.Thr249=) c.558C= (p.Thr186=) | |
10 | g.86716634C>G | CA470375928 | LDB3 | n.515-2093C>G c.1350C>G (p.Thr450=) c.1398C>G (p.Thr466=) c.1539C>G (p.Thr513=) c.1209C>G (p.Thr403=) c.1554C>G (p.Thr518=) c.1791C>G (p.Thr597=) c.1743C>G (p.Thr581=) c.1602C>G (p.Thr534=) c.1587C>G (p.Thr529=) c.1446C>G (p.Thr482=) c.1257C>G (p.Thr419=) c.1242C>G (p.Thr414=) c.747C>G (p.Thr249=) c.558C>G (p.Thr186=) | ClinVar dbSNP gnomAD v4 |
10 | g.86716634C>T | CA470375930 | LDB3 | n.515-2093C>T c.1350C>T (p.Thr450=) c.1398C>T (p.Thr466=) c.1539C>T (p.Thr513=) c.1209C>T (p.Thr403=) c.1554C>T (p.Thr518=) c.1791C>T (p.Thr597=) c.1743C>T (p.Thr581=) c.1602C>T (p.Thr534=) c.1587C>T (p.Thr529=) c.1446C>T (p.Thr482=) c.1257C>T (p.Thr419=) c.1242C>T (p.Thr414=) c.747C>T (p.Thr249=) c.558C>T (p.Thr186=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.86716635C>A | CA377451220 | LDB3 | n.515-2092C>A c.1351C>A (p.Leu451Met) c.1399C>A (p.Leu467Met) c.1540C>A (p.Leu514Met) c.1210C>A (p.Leu404Met) c.1555C>A (p.Leu519Met) c.1792C>A (p.Leu598Met) c.1744C>A (p.Leu582Met) c.1603C>A (p.Leu535Met) c.1588C>A (p.Leu530Met) c.1447C>A (p.Leu483Met) c.1258C>A (p.Leu420Met) c.1243C>A (p.Leu415Met) c.748C>A (p.Leu250Met) c.559C>A (p.Leu187Met) | |
10 | g.86716635C= | CA1925631968 | LDB3 | n.515-2092C= c.1351C= (p.Leu451=) c.1399C= (p.Leu467=) c.1540C= (p.Leu514=) c.1210C= (p.Leu404=) c.1555C= (p.Leu519=) c.1792C= (p.Leu598=) c.1744C= (p.Leu582=) c.1603C= (p.Leu535=) c.1588C= (p.Leu530=) c.1447C= (p.Leu483=) c.1258C= (p.Leu420=) c.1243C= (p.Leu415=) c.748C= (p.Leu250=) c.559C= (p.Leu187=) | |
10 | g.86716635C>G | CA5585181 | LDB3 | n.515-2092C>G c.1351C>G (p.Leu451Val) c.1399C>G (p.Leu467Val) c.1540C>G (p.Leu514Val) c.1210C>G (p.Leu404Val) c.1555C>G (p.Leu519Val) c.1792C>G (p.Leu598Val) c.1744C>G (p.Leu582Val) c.1603C>G (p.Leu535Val) c.1588C>G (p.Leu530Val) c.1447C>G (p.Leu483Val) c.1258C>G (p.Leu420Val) c.1243C>G (p.Leu415Val) c.748C>G (p.Leu250Val) c.559C>G (p.Leu187Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.86716635C>T | CA470375933 | LDB3 | n.515-2092C>T c.1351C>T (p.Leu451=) c.1399C>T (p.Leu467=) c.1540C>T (p.Leu514=) c.1210C>T (p.Leu404=) c.1555C>T (p.Leu519=) c.1792C>T (p.Leu598=) c.1744C>T (p.Leu582=) c.1603C>T (p.Leu535=) c.1588C>T (p.Leu530=) c.1447C>T (p.Leu483=) c.1258C>T (p.Leu420=) c.1243C>T (p.Leu415=) c.748C>T (p.Leu250=) c.559C>T (p.Leu187=) | COSMIC COSMIC COSMIC |
10 | g.86716636T>A | CA377451222 | LDB3 | n.515-2091T>A c.1352T>A (p.Leu451Gln) c.1400T>A (p.Leu467Gln) c.1541T>A (p.Leu514Gln) c.1211T>A (p.Leu404Gln) c.1556T>A (p.Leu519Gln) c.1793T>A (p.Leu598Gln) c.1745T>A (p.Leu582Gln) c.1604T>A (p.Leu535Gln) c.1589T>A (p.Leu530Gln) c.1448T>A (p.Leu483Gln) c.1259T>A (p.Leu420Gln) c.1244T>A (p.Leu415Gln) c.749T>A (p.Leu250Gln) c.560T>A (p.Leu187Gln) | |
10 | g.86716636T>C | CA377451224 | LDB3 | n.515-2091T>C c.1352T>C (p.Leu451Pro) c.1400T>C (p.Leu467Pro) c.1541T>C (p.Leu514Pro) c.1211T>C (p.Leu404Pro) c.1556T>C (p.Leu519Pro) c.1793T>C (p.Leu598Pro) c.1745T>C (p.Leu582Pro) c.1604T>C (p.Leu535Pro) c.1589T>C (p.Leu530Pro) c.1448T>C (p.Leu483Pro) c.1259T>C (p.Leu420Pro) c.1244T>C (p.Leu415Pro) c.749T>C (p.Leu250Pro) c.560T>C (p.Leu187Pro) | |
10 | g.86716636T>G | CA377451226 | LDB3 | n.515-2091T>G c.1352T>G (p.Leu451Arg) c.1400T>G (p.Leu467Arg) c.1541T>G (p.Leu514Arg) c.1211T>G (p.Leu404Arg) c.1556T>G (p.Leu519Arg) c.1793T>G (p.Leu598Arg) c.1745T>G (p.Leu582Arg) c.1604T>G (p.Leu535Arg) c.1589T>G (p.Leu530Arg) c.1448T>G (p.Leu483Arg) c.1259T>G (p.Leu420Arg) c.1244T>G (p.Leu415Arg) c.749T>G (p.Leu250Arg) c.560T>G (p.Leu187Arg) | |
10 | g.86716637G>A | CA470375944 | LDB3 | n.515-2090G>A c.1353G>A (p.Leu451=) c.1401G>A (p.Leu467=) c.1542G>A (p.Leu514=) c.1212G>A (p.Leu404=) c.1557G>A (p.Leu519=) c.1794G>A (p.Leu598=) c.1746G>A (p.Leu582=) c.1605G>A (p.Leu535=) c.1590G>A (p.Leu530=) c.1449G>A (p.Leu483=) c.1260G>A (p.Leu420=) c.1245G>A (p.Leu415=) c.750G>A (p.Leu250=) c.561G>A (p.Leu187=) | gnomAD v4 |
10 | g.86716637G>C | CA470375946 | LDB3 | n.515-2090G>C c.1353G>C (p.Leu451=) c.1401G>C (p.Leu467=) c.1542G>C (p.Leu514=) c.1212G>C (p.Leu404=) c.1557G>C (p.Leu519=) c.1794G>C (p.Leu598=) c.1746G>C (p.Leu582=) c.1605G>C (p.Leu535=) c.1590G>C (p.Leu530=) c.1449G>C (p.Leu483=) c.1260G>C (p.Leu420=) c.1245G>C (p.Leu415=) c.750G>C (p.Leu250=) c.561G>C (p.Leu187=) | |
10 | g.86716637G= | CA1925631969 | LDB3 | n.515-2090G= c.1353G= (p.Leu451=) c.1401G= (p.Leu467=) c.1542G= (p.Leu514=) c.1212G= (p.Leu404=) c.1557G= (p.Leu519=) c.1794G= (p.Leu598=) c.1746G= (p.Leu582=) c.1605G= (p.Leu535=) c.1590G= (p.Leu530=) c.1449G= (p.Leu483=) c.1260G= (p.Leu420=) c.1245G= (p.Leu415=) c.750G= (p.Leu250=) c.561G= (p.Leu187=) | |
10 | g.86716637G>T | CA470375949 | LDB3 | n.515-2090G>T c.1353G>T (p.Leu451=) c.1401G>T (p.Leu467=) c.1542G>T (p.Leu514=) c.1212G>T (p.Leu404=) c.1557G>T (p.Leu519=) c.1794G>T (p.Leu598=) c.1746G>T (p.Leu582=) c.1605G>T (p.Leu535=) c.1590G>T (p.Leu530=) c.1449G>T (p.Leu483=) c.1260G>T (p.Leu420=) c.1245G>T (p.Leu415=) c.750G>T (p.Leu250=) c.561G>T (p.Leu187=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.86716638C>A | CA377451232 | LDB3 | n.515-2089C>A c.1354C>A (p.Pro452Thr) c.1402C>A (p.Pro468Thr) c.1543C>A (p.Pro515Thr) c.1213C>A (p.Pro405Thr) c.1558C>A (p.Pro520Thr) c.1795C>A (p.Pro599Thr) c.1747C>A (p.Pro583Thr) c.1606C>A (p.Pro536Thr) c.1591C>A (p.Pro531Thr) c.1450C>A (p.Pro484Thr) c.1261C>A (p.Pro421Thr) c.1246C>A (p.Pro416Thr) c.751C>A (p.Pro251Thr) c.562C>A (p.Pro188Thr) | |
10 | g.86716638C= | CA1925631970 | LDB3 | n.515-2089C= c.1354C= (p.Pro452=) c.1402C= (p.Pro468=) c.1543C= (p.Pro515=) c.1213C= (p.Pro405=) c.1558C= (p.Pro520=) c.1795C= (p.Pro599=) c.1747C= (p.Pro583=) c.1606C= (p.Pro536=) c.1591C= (p.Pro531=) c.1450C= (p.Pro484=) c.1261C= (p.Pro421=) c.1246C= (p.Pro416=) c.751C= (p.Pro251=) c.562C= (p.Pro188=) | |
10 | g.86716638C>G | CA377451230 | LDB3 | n.515-2089C>G c.1354C>G (p.Pro452Ala) c.1402C>G (p.Pro468Ala) c.1543C>G (p.Pro515Ala) c.1213C>G (p.Pro405Ala) c.1558C>G (p.Pro520Ala) c.1795C>G (p.Pro599Ala) c.1747C>G (p.Pro583Ala) c.1606C>G (p.Pro536Ala) c.1591C>G (p.Pro531Ala) c.1450C>G (p.Pro484Ala) c.1261C>G (p.Pro421Ala) c.1246C>G (p.Pro416Ala) c.751C>G (p.Pro251Ala) c.562C>G (p.Pro188Ala) | |
10 | g.86716638C>T | CA377451228 | LDB3 | n.515-2089C>T c.1354C>T (p.Pro452Ser) c.1402C>T (p.Pro468Ser) c.1543C>T (p.Pro515Ser) c.1213C>T (p.Pro405Ser) c.1558C>T (p.Pro520Ser) c.1795C>T (p.Pro599Ser) c.1747C>T (p.Pro583Ser) c.1606C>T (p.Pro536Ser) c.1591C>T (p.Pro531Ser) c.1450C>T (p.Pro484Ser) c.1261C>T (p.Pro421Ser) c.1246C>T (p.Pro416Ser) c.751C>T (p.Pro251Ser) c.562C>T (p.Pro188Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.86716641del | CA2609997616 | LDB3 | n.515-2086del c.1357del (p.Arg453GlyfsTer?) c.1405del (p.Arg469GlyfsTer?) c.1546del (p.Arg516GlyfsTer?) c.1216del (p.Arg406GlyfsTer?) c.1561del (p.Arg521GlyfsTer?) c.1798del (p.Arg600GlyfsTer?) c.1750del (p.Arg584GlyfsTer?) c.1609del (p.Arg537GlyfsTer?) c.1594del (p.Arg532GlyfsTer?) c.1453del (p.Arg485GlyfsTer?) c.1264del (p.Arg422GlyfsTer?) c.1249del (p.Arg417GlyfsTer?) c.754del (p.Arg252GlyfsTer?) c.565del (p.Arg189GlyfsTer?) | gnomAD v4 |
10 | g.86716639C>A | CA377451234 | LDB3 | n.515-2088C>A c.1355C>A (p.Pro452His) c.1403C>A (p.Pro468His) c.1544C>A (p.Pro515His) c.1214C>A (p.Pro405His) c.1559C>A (p.Pro520His) c.1796C>A (p.Pro599His) c.1748C>A (p.Pro583His) c.1607C>A (p.Pro536His) c.1592C>A (p.Pro531His) c.1451C>A (p.Pro484His) c.1262C>A (p.Pro421His) c.1247C>A (p.Pro416His) c.752C>A (p.Pro251His) c.563C>A (p.Pro188His) | |
10 | g.86716639C>G | CA377451236 | LDB3 | n.515-2088C>G c.1355C>G (p.Pro452Arg) c.1403C>G (p.Pro468Arg) c.1544C>G (p.Pro515Arg) c.1214C>G (p.Pro405Arg) c.1559C>G (p.Pro520Arg) c.1796C>G (p.Pro599Arg) c.1748C>G (p.Pro583Arg) c.1607C>G (p.Pro536Arg) c.1592C>G (p.Pro531Arg) c.1451C>G (p.Pro484Arg) c.1262C>G (p.Pro421Arg) c.1247C>G (p.Pro416Arg) c.752C>G (p.Pro251Arg) c.563C>G (p.Pro188Arg) | gnomAD v4 |
10 | g.86716639C>T | CA377451238 | LDB3 | n.515-2088C>T c.1355C>T (p.Pro452Leu) c.1403C>T (p.Pro468Leu) c.1544C>T (p.Pro515Leu) c.1214C>T (p.Pro405Leu) c.1559C>T (p.Pro520Leu) c.1796C>T (p.Pro599Leu) c.1748C>T (p.Pro583Leu) c.1607C>T (p.Pro536Leu) c.1592C>T (p.Pro531Leu) c.1451C>T (p.Pro484Leu) c.1262C>T (p.Pro421Leu) c.1247C>T (p.Pro416Leu) c.752C>T (p.Pro251Leu) c.563C>T (p.Pro188Leu) | ClinVar gnomAD v4 |
10 | g.86716640C>A | CA470375966 | LDB3 | n.515-2087C>A c.1356C>A (p.Pro452=) c.1404C>A (p.Pro468=) c.1545C>A (p.Pro515=) c.1215C>A (p.Pro405=) c.1560C>A (p.Pro520=) c.1797C>A (p.Pro599=) c.1749C>A (p.Pro583=) c.1608C>A (p.Pro536=) c.1593C>A (p.Pro531=) c.1452C>A (p.Pro484=) c.1263C>A (p.Pro421=) c.1248C>A (p.Pro416=) c.753C>A (p.Pro251=) c.564C>A (p.Pro188=) | |
10 | g.86716640C>G | CA470375962 | LDB3 | n.515-2087C>G c.1356C>G (p.Pro452=) c.1404C>G (p.Pro468=) c.1545C>G (p.Pro515=) c.1215C>G (p.Pro405=) c.1560C>G (p.Pro520=) c.1797C>G (p.Pro599=) c.1749C>G (p.Pro583=) c.1608C>G (p.Pro536=) c.1593C>G (p.Pro531=) c.1452C>G (p.Pro484=) c.1263C>G (p.Pro421=) c.1248C>G (p.Pro416=) c.753C>G (p.Pro251=) c.564C>G (p.Pro188=) | |
10 | g.86716640C>T | CA470375964 | LDB3 | n.515-2087C>T c.1356C>T (p.Pro452=) c.1404C>T (p.Pro468=) c.1545C>T (p.Pro515=) c.1215C>T (p.Pro405=) c.1560C>T (p.Pro520=) c.1797C>T (p.Pro599=) c.1749C>T (p.Pro583=) c.1608C>T (p.Pro536=) c.1593C>T (p.Pro531=) c.1452C>T (p.Pro484=) c.1263C>T (p.Pro421=) c.1248C>T (p.Pro416=) c.753C>T (p.Pro251=) c.564C>T (p.Pro188=) | |
10 | g.86716641C>A | CA470375970 | LDB3 | n.515-2086C>A c.1357C>A (p.Arg453=) c.1405C>A (p.Arg469=) c.1546C>A (p.Arg516=) c.1216C>A (p.Arg406=) c.1561C>A (p.Arg521=) c.1798C>A (p.Arg600=) c.1750C>A (p.Arg584=) c.1609C>A (p.Arg537=) c.1594C>A (p.Arg532=) c.1453C>A (p.Arg485=) c.1264C>A (p.Arg422=) c.1249C>A (p.Arg417=) c.754C>A (p.Arg252=) c.565C>A (p.Arg189=) | |
10 | g.86716641C= | CA1925631971 | LDB3 | n.515-2086C= c.1357C= (p.Arg453=) c.1405C= (p.Arg469=) c.1546C= (p.Arg516=) c.1216C= (p.Arg406=) c.1561C= (p.Arg521=) c.1798C= (p.Arg600=) c.1750C= (p.Arg584=) c.1609C= (p.Arg537=) c.1594C= (p.Arg532=) c.1453C= (p.Arg485=) c.1264C= (p.Arg422=) c.1249C= (p.Arg417=) c.754C= (p.Arg252=) c.565C= (p.Arg189=) | |
10 | g.86716641C>G | CA377451240 | LDB3 | n.515-2086C>G c.1357C>G (p.Arg453Gly) c.1405C>G (p.Arg469Gly) c.1546C>G (p.Arg516Gly) c.1216C>G (p.Arg406Gly) c.1561C>G (p.Arg521Gly) c.1798C>G (p.Arg600Gly) c.1750C>G (p.Arg584Gly) c.1609C>G (p.Arg537Gly) c.1594C>G (p.Arg532Gly) c.1453C>G (p.Arg485Gly) c.1264C>G (p.Arg422Gly) c.1249C>G (p.Arg417Gly) c.754C>G (p.Arg252Gly) c.565C>G (p.Arg189Gly) | |
10 | g.86716641C>T | CA5585182 | LDB3 | n.515-2086C>T c.1357C>T (p.Arg453Trp) c.1405C>T (p.Arg469Trp) c.1546C>T (p.Arg516Trp) c.1216C>T (p.Arg406Trp) c.1561C>T (p.Arg521Trp) c.1798C>T (p.Arg600Trp) c.1750C>T (p.Arg584Trp) c.1609C>T (p.Arg537Trp) c.1594C>T (p.Arg532Trp) c.1453C>T (p.Arg485Trp) c.1264C>T (p.Arg422Trp) c.1249C>T (p.Arg417Trp) c.754C>T (p.Arg252Trp) c.565C>T (p.Arg189Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86716642G>A | CA5585183 | LDB3 | n.515-2085G>A c.1358G>A (p.Arg453Gln) c.1406G>A (p.Arg469Gln) c.1547G>A (p.Arg516Gln) c.1217G>A (p.Arg406Gln) c.1562G>A (p.Arg521Gln) c.1799G>A (p.Arg600Gln) c.1751G>A (p.Arg584Gln) c.1610G>A (p.Arg537Gln) c.1595G>A (p.Arg532Gln) c.1454G>A (p.Arg485Gln) c.1265G>A (p.Arg422Gln) c.1250G>A (p.Arg417Gln) c.755G>A (p.Arg252Gln) c.566G>A (p.Arg189Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86716642G>C | CA377451243 | LDB3 | n.515-2085G>C c.1358G>C (p.Arg453Pro) c.1406G>C (p.Arg469Pro) c.1547G>C (p.Arg516Pro) c.1217G>C (p.Arg406Pro) c.1562G>C (p.Arg521Pro) c.1799G>C (p.Arg600Pro) c.1751G>C (p.Arg584Pro) c.1610G>C (p.Arg537Pro) c.1595G>C (p.Arg532Pro) c.1454G>C (p.Arg485Pro) c.1265G>C (p.Arg422Pro) c.1250G>C (p.Arg417Pro) c.755G>C (p.Arg252Pro) c.566G>C (p.Arg189Pro) | |
10 | g.86716642G= | CA1925631972 | LDB3 | n.515-2085G= c.1358G= (p.Arg453=) c.1406G= (p.Arg469=) c.1547G= (p.Arg516=) c.1217G= (p.Arg406=) c.1562G= (p.Arg521=) c.1799G= (p.Arg600=) c.1751G= (p.Arg584=) c.1610G= (p.Arg537=) c.1595G= (p.Arg532=) c.1454G= (p.Arg485=) c.1265G= (p.Arg422=) c.1250G= (p.Arg417=) c.755G= (p.Arg252=) c.566G= (p.Arg189=) | |
10 | g.86716642G>T | CA5585184 | LDB3 | n.515-2085G>T c.1358G>T (p.Arg453Leu) c.1406G>T (p.Arg469Leu) c.1547G>T (p.Arg516Leu) c.1217G>T (p.Arg406Leu) c.1562G>T (p.Arg521Leu) c.1799G>T (p.Arg600Leu) c.1751G>T (p.Arg584Leu) c.1610G>T (p.Arg537Leu) c.1595G>T (p.Arg532Leu) c.1454G>T (p.Arg485Leu) c.1265G>T (p.Arg422Leu) c.1250G>T (p.Arg417Leu) c.755G>T (p.Arg252Leu) c.566G>T (p.Arg189Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.86716645del | CA2609997617 | LDB3 | n.515-2082del c.1361del (p.Gly454GlufsTer?) c.1409del (p.Gly470GlufsTer?) c.1550del (p.Gly517GlufsTer?) c.1220del (p.Gly407GlufsTer?) c.1565del (p.Gly522GlufsTer?) c.1802del (p.Gly601GlufsTer?) c.1754del (p.Gly585GlufsTer?) c.1613del (p.Gly538GlufsTer?) c.1598del (p.Gly533GlufsTer?) c.1457del (p.Gly486GlufsTer?) c.1268del (p.Gly423GlufsTer?) c.1253del (p.Gly418GlufsTer?) c.758del (p.Gly253GlufsTer?) c.569del (p.Gly190GlufsTer?) | gnomAD v4 |
10 | g.86716643G>A | CA5585185 | LDB3 | n.515-2084G>A c.1359G>A (p.Arg453=) c.1407G>A (p.Arg469=) c.1548G>A (p.Arg516=) c.1218G>A (p.Arg406=) c.1563G>A (p.Arg521=) c.1800G>A (p.Arg600=) c.1752G>A (p.Arg584=) c.1611G>A (p.Arg537=) c.1596G>A (p.Arg532=) c.1455G>A (p.Arg485=) c.1266G>A (p.Arg422=) c.1251G>A (p.Arg417=) c.756G>A (p.Arg252=) c.567G>A (p.Arg189=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86716643G>C | CA470375983 | LDB3 | n.515-2084G>C c.1359G>C (p.Arg453=) c.1407G>C (p.Arg469=) c.1548G>C (p.Arg516=) c.1218G>C (p.Arg406=) c.1563G>C (p.Arg521=) c.1800G>C (p.Arg600=) c.1752G>C (p.Arg584=) c.1611G>C (p.Arg537=) c.1596G>C (p.Arg532=) c.1455G>C (p.Arg485=) c.1266G>C (p.Arg422=) c.1251G>C (p.Arg417=) c.756G>C (p.Arg252=) c.567G>C (p.Arg189=) | |
10 | g.86716643G= | CA1925631973 | LDB3 | n.515-2084G= c.1359G= (p.Arg453=) c.1407G= (p.Arg469=) c.1548G= (p.Arg516=) c.1218G= (p.Arg406=) c.1563G= (p.Arg521=) c.1800G= (p.Arg600=) c.1752G= (p.Arg584=) c.1611G= (p.Arg537=) c.1596G= (p.Arg532=) c.1455G= (p.Arg485=) c.1266G= (p.Arg422=) c.1251G= (p.Arg417=) c.756G= (p.Arg252=) c.567G= (p.Arg189=) | |
10 | g.86716643G>T | CA470375985 | LDB3 | n.515-2084G>T c.1359G>T (p.Arg453=) c.1407G>T (p.Arg469=) c.1548G>T (p.Arg516=) c.1218G>T (p.Arg406=) c.1563G>T (p.Arg521=) c.1800G>T (p.Arg600=) c.1752G>T (p.Arg584=) c.1611G>T (p.Arg537=) c.1596G>T (p.Arg532=) c.1455G>T (p.Arg485=) c.1266G>T (p.Arg422=) c.1251G>T (p.Arg417=) c.756G>T (p.Arg252=) c.567G>T (p.Arg189=) | |
10 | g.86716644G>A | CA377451248 | LDB3 | n.515-2083G>A c.1360G>A (p.Gly454Arg) c.1408G>A (p.Gly470Arg) c.1549G>A (p.Gly517Arg) c.1219G>A (p.Gly407Arg) c.1564G>A (p.Gly522Arg) c.1801G>A (p.Gly601Arg) c.1753G>A (p.Gly585Arg) c.1612G>A (p.Gly538Arg) c.1597G>A (p.Gly533Arg) c.1456G>A (p.Gly486Arg) c.1267G>A (p.Gly423Arg) c.1252G>A (p.Gly418Arg) c.757G>A (p.Gly253Arg) c.568G>A (p.Gly190Arg) | |
10 | g.86716644G>C | CA377451250 | LDB3 | n.515-2083G>C c.1360G>C (p.Gly454Arg) c.1408G>C (p.Gly470Arg) c.1549G>C (p.Gly517Arg) c.1219G>C (p.Gly407Arg) c.1564G>C (p.Gly522Arg) c.1801G>C (p.Gly601Arg) c.1753G>C (p.Gly585Arg) c.1612G>C (p.Gly538Arg) c.1597G>C (p.Gly533Arg) c.1456G>C (p.Gly486Arg) c.1267G>C (p.Gly423Arg) c.1252G>C (p.Gly418Arg) c.757G>C (p.Gly253Arg) c.568G>C (p.Gly190Arg) | |
10 | g.86716644G= | CA1925631974 | LDB3 | n.515-2083G= c.1360G= (p.Gly454=) c.1408G= (p.Gly470=) c.1549G= (p.Gly517=) c.1219G= (p.Gly407=) c.1564G= (p.Gly522=) c.1801G= (p.Gly601=) c.1753G= (p.Gly585=) c.1612G= (p.Gly538=) c.1597G= (p.Gly533=) c.1456G= (p.Gly486=) c.1267G= (p.Gly423=) c.1252G= (p.Gly418=) c.757G= (p.Gly253=) c.568G= (p.Gly190=) | |
10 | g.86716644G>T | CA377451252 | LDB3 | n.515-2083G>T c.1360G>T (p.Gly454Ter) c.1408G>T (p.Gly470Ter) c.1549G>T (p.Gly517Ter) c.1219G>T (p.Gly407Ter) c.1564G>T (p.Gly522Ter) c.1801G>T (p.Gly601Ter) c.1753G>T (p.Gly585Ter) c.1612G>T (p.Gly538Ter) c.1597G>T (p.Gly533Ter) c.1456G>T (p.Gly486Ter) c.1267G>T (p.Gly423Ter) c.1252G>T (p.Gly418Ter) c.757G>T (p.Gly253Ter) c.568G>T (p.Gly190Ter) | |
10 | g.86716645G>A | CA377451261 | LDB3 | n.515-2082G>A c.1361G>A (p.Gly454Glu) c.1409G>A (p.Gly470Glu) c.1550G>A (p.Gly517Glu) c.1220G>A (p.Gly407Glu) c.1565G>A (p.Gly522Glu) c.1802G>A (p.Gly601Glu) c.1754G>A (p.Gly585Glu) c.1613G>A (p.Gly538Glu) c.1598G>A (p.Gly533Glu) c.1457G>A (p.Gly486Glu) c.1268G>A (p.Gly423Glu) c.1253G>A (p.Gly418Glu) c.758G>A (p.Gly253Glu) c.569G>A (p.Gly190Glu) | |
10 | g.86716645G>C | CA377451259 | LDB3 | n.515-2082G>C c.1361G>C (p.Gly454Ala) c.1409G>C (p.Gly470Ala) c.1550G>C (p.Gly517Ala) c.1220G>C (p.Gly407Ala) c.1565G>C (p.Gly522Ala) c.1802G>C (p.Gly601Ala) c.1754G>C (p.Gly585Ala) c.1613G>C (p.Gly538Ala) c.1598G>C (p.Gly533Ala) c.1457G>C (p.Gly486Ala) c.1268G>C (p.Gly423Ala) c.1253G>C (p.Gly418Ala) c.758G>C (p.Gly253Ala) c.569G>C (p.Gly190Ala) | |
10 | g.86716645G>T | CA377451256 | LDB3 | n.515-2082G>T c.1361G>T (p.Gly454Val) c.1409G>T (p.Gly470Val) c.1550G>T (p.Gly517Val) c.1220G>T (p.Gly407Val) c.1565G>T (p.Gly522Val) c.1802G>T (p.Gly601Val) c.1754G>T (p.Gly585Val) c.1613G>T (p.Gly538Val) c.1598G>T (p.Gly533Val) c.1457G>T (p.Gly486Val) c.1268G>T (p.Gly423Val) c.1253G>T (p.Gly418Val) c.758G>T (p.Gly253Val) c.569G>T (p.Gly190Val) | |
10 | g.86716646_86716667dup | CA930816424 | LDB3 | n.515-2081_515-2060dup c.1362_1383dup (p.Gly462ArgfsTer23) c.1410_1431dup (p.Gly478ArgfsTer23) c.1551_1572dup (p.Gly525ArgfsTer23) c.1221_1242dup (p.Gly415ArgfsTer23) c.1566_1587dup (p.Gly530ArgfsTer23) c.1803_1824dup (p.Gly609ArgfsTer23) c.1755_1776dup (p.Gly593ArgfsTer23) c.1614_1635dup (p.Gly546ArgfsTer23) c.1599_1620dup (p.Gly541ArgfsTer23) c.1458_1479dup (p.Gly494ArgfsTer23) c.1269_1290dup (p.Gly431ArgfsTer23) c.1254_1275dup (p.Gly426ArgfsTer23) c.759_780dup (p.Gly261ArgfsTer23) c.570_591dup (p.Gly198ArgfsTer23) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.86716646A>C | CA470376002 | LDB3 | n.515-2081A>C c.1362A>C (p.Gly454=) c.1410A>C (p.Gly470=) c.1551A>C (p.Gly517=) c.1221A>C (p.Gly407=) c.1566A>C (p.Gly522=) c.1803A>C (p.Gly601=) c.1755A>C (p.Gly585=) c.1614A>C (p.Gly538=) c.1599A>C (p.Gly533=) c.1458A>C (p.Gly486=) c.1269A>C (p.Gly423=) c.1254A>C (p.Gly418=) c.759A>C (p.Gly253=) c.570A>C (p.Gly190=) | |
10 | g.86716646A>G | CA470376006 | LDB3 | n.515-2081A>G c.1362A>G (p.Gly454=) c.1410A>G (p.Gly470=) c.1551A>G (p.Gly517=) c.1221A>G (p.Gly407=) c.1566A>G (p.Gly522=) c.1803A>G (p.Gly601=) c.1755A>G (p.Gly585=) c.1614A>G (p.Gly538=) c.1599A>G (p.Gly533=) c.1458A>G (p.Gly486=) c.1269A>G (p.Gly423=) c.1254A>G (p.Gly418=) c.759A>G (p.Gly253=) c.570A>G (p.Gly190=) | |
10 | g.86716646A>T | CA470376004 | LDB3 | n.515-2081A>T c.1362A>T (p.Gly454=) c.1410A>T (p.Gly470=) c.1551A>T (p.Gly517=) c.1221A>T (p.Gly407=) c.1566A>T (p.Gly522=) c.1803A>T (p.Gly601=) c.1755A>T (p.Gly585=) c.1614A>T (p.Gly538=) c.1599A>T (p.Gly533=) c.1458A>T (p.Gly486=) c.1269A>T (p.Gly423=) c.1254A>T (p.Gly418=) c.759A>T (p.Gly253=) c.570A>T (p.Gly190=) |