Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
10 | g.86716647G>A | CA377451263 | LDB3 | n.515-2080G>A c.1363G>A (p.Gly455Ser) c.1411G>A (p.Gly471Ser) c.1552G>A (p.Gly518Ser) c.1222G>A (p.Gly408Ser) c.1567G>A (p.Gly523Ser) c.1804G>A (p.Gly602Ser) c.1756G>A (p.Gly586Ser) c.1615G>A (p.Gly539Ser) c.1600G>A (p.Gly534Ser) c.1459G>A (p.Gly487Ser) c.1270G>A (p.Gly424Ser) c.1255G>A (p.Gly419Ser) c.760G>A (p.Gly254Ser) c.571G>A (p.Gly191Ser) | |
10 | g.86716647G>C | CA377451265 | LDB3 | n.515-2080G>C c.1363G>C (p.Gly455Arg) c.1411G>C (p.Gly471Arg) c.1552G>C (p.Gly518Arg) c.1222G>C (p.Gly408Arg) c.1567G>C (p.Gly523Arg) c.1804G>C (p.Gly602Arg) c.1756G>C (p.Gly586Arg) c.1615G>C (p.Gly539Arg) c.1600G>C (p.Gly534Arg) c.1459G>C (p.Gly487Arg) c.1270G>C (p.Gly424Arg) c.1255G>C (p.Gly419Arg) c.760G>C (p.Gly254Arg) c.571G>C (p.Gly191Arg) | |
10 | g.86716647G>T | CA377451266 | LDB3 | n.515-2080G>T c.1363G>T (p.Gly455Cys) c.1411G>T (p.Gly471Cys) c.1552G>T (p.Gly518Cys) c.1222G>T (p.Gly408Cys) c.1567G>T (p.Gly523Cys) c.1804G>T (p.Gly602Cys) c.1756G>T (p.Gly586Cys) c.1615G>T (p.Gly539Cys) c.1600G>T (p.Gly534Cys) c.1459G>T (p.Gly487Cys) c.1270G>T (p.Gly424Cys) c.1255G>T (p.Gly419Cys) c.760G>T (p.Gly254Cys) c.571G>T (p.Gly191Cys) | |
10 | g.86716648del | CA2573332893 | LDB3 | n.515-2079del c.1364del (p.Gly455AlafsTer?) c.1412del (p.Gly471AlafsTer?) c.1553del (p.Gly518AlafsTer?) c.1223del (p.Gly408AlafsTer?) c.1568del (p.Gly523AlafsTer?) c.1805del (p.Gly602AlafsTer?) c.1757del (p.Gly586AlafsTer?) c.1616del (p.Gly539AlafsTer?) c.1601del (p.Gly534AlafsTer?) c.1460del (p.Gly487AlafsTer?) c.1271del (p.Gly424AlafsTer?) c.1256del (p.Gly419AlafsTer?) c.761del (p.Gly254AlafsTer?) c.572del (p.Gly191AlafsTer?) | |
10 | g.86716648G>A | CA377451268 | LDB3 | n.515-2079G>A c.1364G>A (p.Gly455Asp) c.1412G>A (p.Gly471Asp) c.1553G>A (p.Gly518Asp) c.1223G>A (p.Gly408Asp) c.1568G>A (p.Gly523Asp) c.1805G>A (p.Gly602Asp) c.1757G>A (p.Gly586Asp) c.1616G>A (p.Gly539Asp) c.1601G>A (p.Gly534Asp) c.1460G>A (p.Gly487Asp) c.1271G>A (p.Gly424Asp) c.1256G>A (p.Gly419Asp) c.761G>A (p.Gly254Asp) c.572G>A (p.Gly191Asp) | dbSNP |
10 | g.86716648G>C | CA377451269 | LDB3 | n.515-2079G>C c.1364G>C (p.Gly455Ala) c.1412G>C (p.Gly471Ala) c.1553G>C (p.Gly518Ala) c.1223G>C (p.Gly408Ala) c.1568G>C (p.Gly523Ala) c.1805G>C (p.Gly602Ala) c.1757G>C (p.Gly586Ala) c.1616G>C (p.Gly539Ala) c.1601G>C (p.Gly534Ala) c.1460G>C (p.Gly487Ala) c.1271G>C (p.Gly424Ala) c.1256G>C (p.Gly419Ala) c.761G>C (p.Gly254Ala) c.572G>C (p.Gly191Ala) | |
10 | g.86716648G= | CA1925631975 | LDB3 | n.515-2079G= c.1364G= (p.Gly455=) c.1412G= (p.Gly471=) c.1553G= (p.Gly518=) c.1223G= (p.Gly408=) c.1568G= (p.Gly523=) c.1805G= (p.Gly602=) c.1757G= (p.Gly586=) c.1616G= (p.Gly539=) c.1601G= (p.Gly534=) c.1460G= (p.Gly487=) c.1271G= (p.Gly424=) c.1256G= (p.Gly419=) c.761G= (p.Gly254=) c.572G= (p.Gly191=) | |
10 | g.86716648G>T | CA377451272 | LDB3 | n.515-2079G>T c.1364G>T (p.Gly455Val) c.1412G>T (p.Gly471Val) c.1553G>T (p.Gly518Val) c.1223G>T (p.Gly408Val) c.1568G>T (p.Gly523Val) c.1805G>T (p.Gly602Val) c.1757G>T (p.Gly586Val) c.1616G>T (p.Gly539Val) c.1601G>T (p.Gly534Val) c.1460G>T (p.Gly487Val) c.1271G>T (p.Gly424Val) c.1256G>T (p.Gly419Val) c.761G>T (p.Gly254Val) c.572G>T (p.Gly191Val) | dbSNP |
10 | g.86716649C>A | CA470376027 | LDB3 | n.515-2078C>A c.1365C>A (p.Gly455=) c.1413C>A (p.Gly471=) c.1554C>A (p.Gly518=) c.1224C>A (p.Gly408=) c.1569C>A (p.Gly523=) c.1806C>A (p.Gly602=) c.1758C>A (p.Gly586=) c.1617C>A (p.Gly539=) c.1602C>A (p.Gly534=) c.1461C>A (p.Gly487=) c.1272C>A (p.Gly424=) c.1257C>A (p.Gly419=) c.762C>A (p.Gly254=) c.573C>A (p.Gly191=) | gnomAD v4 |
10 | g.86716649C>G | CA470376024 | LDB3 | n.515-2078C>G c.1365C>G (p.Gly455=) c.1413C>G (p.Gly471=) c.1554C>G (p.Gly518=) c.1224C>G (p.Gly408=) c.1569C>G (p.Gly523=) c.1806C>G (p.Gly602=) c.1758C>G (p.Gly586=) c.1617C>G (p.Gly539=) c.1602C>G (p.Gly534=) c.1461C>G (p.Gly487=) c.1272C>G (p.Gly424=) c.1257C>G (p.Gly419=) c.762C>G (p.Gly254=) c.573C>G (p.Gly191=) | |
10 | g.86716649C>T | CA470376022 | LDB3 | n.515-2078C>T c.1365C>T (p.Gly455=) c.1413C>T (p.Gly471=) c.1554C>T (p.Gly518=) c.1224C>T (p.Gly408=) c.1569C>T (p.Gly523=) c.1806C>T (p.Gly602=) c.1758C>T (p.Gly586=) c.1617C>T (p.Gly539=) c.1602C>T (p.Gly534=) c.1461C>T (p.Gly487=) c.1272C>T (p.Gly424=) c.1257C>T (p.Gly419=) c.762C>T (p.Gly254=) c.573C>T (p.Gly191=) | |
10 | g.86716650C>A | CA377451279 | LDB3 | n.515-2077C>A c.1366C>A (p.Pro456Thr) c.1414C>A (p.Pro472Thr) c.1555C>A (p.Pro519Thr) c.1225C>A (p.Pro409Thr) c.1570C>A (p.Pro524Thr) c.1807C>A (p.Pro603Thr) c.1759C>A (p.Pro587Thr) c.1618C>A (p.Pro540Thr) c.1603C>A (p.Pro535Thr) c.1462C>A (p.Pro488Thr) c.1273C>A (p.Pro425Thr) c.1258C>A (p.Pro420Thr) c.763C>A (p.Pro255Thr) c.574C>A (p.Pro192Thr) | |
10 | g.86716650C>G | CA377451282 | LDB3 | n.515-2077C>G c.1366C>G (p.Pro456Ala) c.1414C>G (p.Pro472Ala) c.1555C>G (p.Pro519Ala) c.1225C>G (p.Pro409Ala) c.1570C>G (p.Pro524Ala) c.1807C>G (p.Pro603Ala) c.1759C>G (p.Pro587Ala) c.1618C>G (p.Pro540Ala) c.1603C>G (p.Pro535Ala) c.1462C>G (p.Pro488Ala) c.1273C>G (p.Pro425Ala) c.1258C>G (p.Pro420Ala) c.763C>G (p.Pro255Ala) c.574C>G (p.Pro192Ala) | |
10 | g.86716650C>T | CA377451285 | LDB3 | n.515-2077C>T c.1366C>T (p.Pro456Ser) c.1414C>T (p.Pro472Ser) c.1555C>T (p.Pro519Ser) c.1225C>T (p.Pro409Ser) c.1570C>T (p.Pro524Ser) c.1807C>T (p.Pro603Ser) c.1759C>T (p.Pro587Ser) c.1618C>T (p.Pro540Ser) c.1603C>T (p.Pro535Ser) c.1462C>T (p.Pro488Ser) c.1273C>T (p.Pro425Ser) c.1258C>T (p.Pro420Ser) c.763C>T (p.Pro255Ser) c.574C>T (p.Pro192Ser) | |
10 | g.86716651C>A | CA377451287 | LDB3 | n.515-2076C>A c.1367C>A (p.Pro456Gln) c.1415C>A (p.Pro472Gln) c.1556C>A (p.Pro519Gln) c.1226C>A (p.Pro409Gln) c.1571C>A (p.Pro524Gln) c.1808C>A (p.Pro603Gln) c.1760C>A (p.Pro587Gln) c.1619C>A (p.Pro540Gln) c.1604C>A (p.Pro535Gln) c.1463C>A (p.Pro488Gln) c.1274C>A (p.Pro425Gln) c.1259C>A (p.Pro420Gln) c.764C>A (p.Pro255Gln) c.575C>A (p.Pro192Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86716651C= | CA1925631976 | LDB3 | n.515-2076C= c.1367C= (p.Pro456=) c.1415C= (p.Pro472=) c.1556C= (p.Pro519=) c.1226C= (p.Pro409=) c.1571C= (p.Pro524=) c.1808C= (p.Pro603=) c.1760C= (p.Pro587=) c.1619C= (p.Pro540=) c.1604C= (p.Pro535=) c.1463C= (p.Pro488=) c.1274C= (p.Pro425=) c.1259C= (p.Pro420=) c.764C= (p.Pro255=) c.575C= (p.Pro192=) | |
10 | g.86716651C>G | CA377451288 | LDB3 | n.515-2076C>G c.1367C>G (p.Pro456Arg) c.1415C>G (p.Pro472Arg) c.1556C>G (p.Pro519Arg) c.1226C>G (p.Pro409Arg) c.1571C>G (p.Pro524Arg) c.1808C>G (p.Pro603Arg) c.1760C>G (p.Pro587Arg) c.1619C>G (p.Pro540Arg) c.1604C>G (p.Pro535Arg) c.1463C>G (p.Pro488Arg) c.1274C>G (p.Pro425Arg) c.1259C>G (p.Pro420Arg) c.764C>G (p.Pro255Arg) c.575C>G (p.Pro192Arg) | |
10 | g.86716651C>T | CA377451290 | LDB3 | n.515-2076C>T c.1367C>T (p.Pro456Leu) c.1415C>T (p.Pro472Leu) c.1556C>T (p.Pro519Leu) c.1226C>T (p.Pro409Leu) c.1571C>T (p.Pro524Leu) c.1808C>T (p.Pro603Leu) c.1760C>T (p.Pro587Leu) c.1619C>T (p.Pro540Leu) c.1604C>T (p.Pro535Leu) c.1463C>T (p.Pro488Leu) c.1274C>T (p.Pro425Leu) c.1259C>T (p.Pro420Leu) c.764C>T (p.Pro255Leu) c.575C>T (p.Pro192Leu) | |
10 | g.86716652A>C | CA470376037 | LDB3 | n.515-2075A>C c.1368A>C (p.Pro456=) c.1416A>C (p.Pro472=) c.1557A>C (p.Pro519=) c.1227A>C (p.Pro409=) c.1572A>C (p.Pro524=) c.1809A>C (p.Pro603=) c.1761A>C (p.Pro587=) c.1620A>C (p.Pro540=) c.1605A>C (p.Pro535=) c.1464A>C (p.Pro488=) c.1275A>C (p.Pro425=) c.1260A>C (p.Pro420=) c.765A>C (p.Pro255=) c.576A>C (p.Pro192=) | |
10 | g.86716652A>G | CA470376042 | LDB3 | n.515-2075A>G c.1368A>G (p.Pro456=) c.1416A>G (p.Pro472=) c.1557A>G (p.Pro519=) c.1227A>G (p.Pro409=) c.1572A>G (p.Pro524=) c.1809A>G (p.Pro603=) c.1761A>G (p.Pro587=) c.1620A>G (p.Pro540=) c.1605A>G (p.Pro535=) c.1464A>G (p.Pro488=) c.1275A>G (p.Pro425=) c.1260A>G (p.Pro420=) c.765A>G (p.Pro255=) c.576A>G (p.Pro192=) | |
10 | g.86716652A>T | CA470376040 | LDB3 | n.515-2075A>T c.1368A>T (p.Pro456=) c.1416A>T (p.Pro472=) c.1557A>T (p.Pro519=) c.1227A>T (p.Pro409=) c.1572A>T (p.Pro524=) c.1809A>T (p.Pro603=) c.1761A>T (p.Pro587=) c.1620A>T (p.Pro540=) c.1605A>T (p.Pro535=) c.1464A>T (p.Pro488=) c.1275A>T (p.Pro425=) c.1260A>T (p.Pro420=) c.765A>T (p.Pro255=) c.576A>T (p.Pro192=) | |
10 | g.86716653G>A | CA211205555 | LDB3 | n.515-2074G>A c.1369G>A (p.Ala457Thr) c.1417G>A (p.Ala473Thr) c.1558G>A (p.Ala520Thr) c.1228G>A (p.Ala410Thr) c.1573G>A (p.Ala525Thr) c.1810G>A (p.Ala604Thr) c.1762G>A (p.Ala588Thr) c.1621G>A (p.Ala541Thr) c.1606G>A (p.Ala536Thr) c.1465G>A (p.Ala489Thr) c.1276G>A (p.Ala426Thr) c.1261G>A (p.Ala421Thr) c.766G>A (p.Ala256Thr) c.577G>A (p.Ala193Thr) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.86716653G>C | CA377451295 | LDB3 | n.515-2074G>C c.1369G>C (p.Ala457Pro) c.1417G>C (p.Ala473Pro) c.1558G>C (p.Ala520Pro) c.1228G>C (p.Ala410Pro) c.1573G>C (p.Ala525Pro) c.1810G>C (p.Ala604Pro) c.1762G>C (p.Ala588Pro) c.1621G>C (p.Ala541Pro) c.1606G>C (p.Ala536Pro) c.1465G>C (p.Ala489Pro) c.1276G>C (p.Ala426Pro) c.1261G>C (p.Ala421Pro) c.766G>C (p.Ala256Pro) c.577G>C (p.Ala193Pro) | dbSNP gnomAD v4 |
10 | g.86716653G= | CA1925631977 | LDB3 | n.515-2074G= c.1369G= (p.Ala457=) c.1417G= (p.Ala473=) c.1558G= (p.Ala520=) c.1228G= (p.Ala410=) c.1573G= (p.Ala525=) c.1810G= (p.Ala604=) c.1762G= (p.Ala588=) c.1621G= (p.Ala541=) c.1606G= (p.Ala536=) c.1465G= (p.Ala489=) c.1276G= (p.Ala426=) c.1261G= (p.Ala421=) c.766G= (p.Ala256=) c.577G= (p.Ala193=) | |
10 | g.86716653G>T | CA377451293 | LDB3 | n.515-2074G>T c.1369G>T (p.Ala457Ser) c.1417G>T (p.Ala473Ser) c.1558G>T (p.Ala520Ser) c.1228G>T (p.Ala410Ser) c.1573G>T (p.Ala525Ser) c.1810G>T (p.Ala604Ser) c.1762G>T (p.Ala588Ser) c.1621G>T (p.Ala541Ser) c.1606G>T (p.Ala536Ser) c.1465G>T (p.Ala489Ser) c.1276G>T (p.Ala426Ser) c.1261G>T (p.Ala421Ser) c.766G>T (p.Ala256Ser) c.577G>T (p.Ala193Ser) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.86716654C>A | CA377451298 | LDB3 | n.515-2073C>A c.1370C>A (p.Ala457Asp) c.1418C>A (p.Ala473Asp) c.1559C>A (p.Ala520Asp) c.1229C>A (p.Ala410Asp) c.1574C>A (p.Ala525Asp) c.1811C>A (p.Ala604Asp) c.1763C>A (p.Ala588Asp) c.1622C>A (p.Ala541Asp) c.1607C>A (p.Ala536Asp) c.1466C>A (p.Ala489Asp) c.1277C>A (p.Ala426Asp) c.1262C>A (p.Ala421Asp) c.767C>A (p.Ala256Asp) c.578C>A (p.Ala193Asp) | |
10 | g.86716654C>G | CA377451302 | LDB3 | n.515-2073C>G c.1370C>G (p.Ala457Gly) c.1418C>G (p.Ala473Gly) c.1559C>G (p.Ala520Gly) c.1229C>G (p.Ala410Gly) c.1574C>G (p.Ala525Gly) c.1811C>G (p.Ala604Gly) c.1763C>G (p.Ala588Gly) c.1622C>G (p.Ala541Gly) c.1607C>G (p.Ala536Gly) c.1466C>G (p.Ala489Gly) c.1277C>G (p.Ala426Gly) c.1262C>G (p.Ala421Gly) c.767C>G (p.Ala256Gly) c.578C>G (p.Ala193Gly) | |
10 | g.86716654C>T | CA377451300 | LDB3 | n.515-2073C>T c.1370C>T (p.Ala457Val) c.1418C>T (p.Ala473Val) c.1559C>T (p.Ala520Val) c.1229C>T (p.Ala410Val) c.1574C>T (p.Ala525Val) c.1811C>T (p.Ala604Val) c.1763C>T (p.Ala588Val) c.1622C>T (p.Ala541Val) c.1607C>T (p.Ala536Val) c.1466C>T (p.Ala489Val) c.1277C>T (p.Ala426Val) c.1262C>T (p.Ala421Val) c.767C>T (p.Ala256Val) c.578C>T (p.Ala193Val) | gnomAD v4 |
10 | g.86716655C>A | CA470376058 | LDB3 | n.515-2072C>A c.1371C>A (p.Ala457=) c.1419C>A (p.Ala473=) c.1560C>A (p.Ala520=) c.1230C>A (p.Ala410=) c.1575C>A (p.Ala525=) c.1812C>A (p.Ala604=) c.1764C>A (p.Ala588=) c.1623C>A (p.Ala541=) c.1608C>A (p.Ala536=) c.1467C>A (p.Ala489=) c.1278C>A (p.Ala426=) c.1263C>A (p.Ala421=) c.768C>A (p.Ala256=) c.579C>A (p.Ala193=) | |
10 | g.86716655C>G | CA470376060 | LDB3 | n.515-2072C>G c.1371C>G (p.Ala457=) c.1419C>G (p.Ala473=) c.1560C>G (p.Ala520=) c.1230C>G (p.Ala410=) c.1575C>G (p.Ala525=) c.1812C>G (p.Ala604=) c.1764C>G (p.Ala588=) c.1623C>G (p.Ala541=) c.1608C>G (p.Ala536=) c.1467C>G (p.Ala489=) c.1278C>G (p.Ala426=) c.1263C>G (p.Ala421=) c.768C>G (p.Ala256=) c.579C>G (p.Ala193=) | |
10 | g.86716655C>T | CA470376063 | LDB3 | n.515-2072C>T c.1371C>T (p.Ala457=) c.1419C>T (p.Ala473=) c.1560C>T (p.Ala520=) c.1230C>T (p.Ala410=) c.1575C>T (p.Ala525=) c.1812C>T (p.Ala604=) c.1764C>T (p.Ala588=) c.1623C>T (p.Ala541=) c.1608C>T (p.Ala536=) c.1467C>T (p.Ala489=) c.1278C>T (p.Ala426=) c.1263C>T (p.Ala421=) c.768C>T (p.Ala256=) c.579C>T (p.Ala193=) | |
10 | g.86716656T>A | CA377451304 | LDB3 | n.515-2071T>A c.1372T>A (p.Tyr458Asn) c.1420T>A (p.Tyr474Asn) c.1561T>A (p.Tyr521Asn) c.1231T>A (p.Tyr411Asn) c.1576T>A (p.Tyr526Asn) c.1813T>A (p.Tyr605Asn) c.1765T>A (p.Tyr589Asn) c.1624T>A (p.Tyr542Asn) c.1609T>A (p.Tyr537Asn) c.1468T>A (p.Tyr490Asn) c.1279T>A (p.Tyr427Asn) c.1264T>A (p.Tyr422Asn) c.769T>A (p.Tyr257Asn) c.580T>A (p.Tyr194Asn) | |
10 | g.86716656T>C | CA211205557 | LDB3 | n.515-2071T>C c.1372T>C (p.Tyr458His) c.1420T>C (p.Tyr474His) c.1561T>C (p.Tyr521His) c.1231T>C (p.Tyr411His) c.1576T>C (p.Tyr526His) c.1813T>C (p.Tyr605His) c.1765T>C (p.Tyr589His) c.1624T>C (p.Tyr542His) c.1609T>C (p.Tyr537His) c.1468T>C (p.Tyr490His) c.1279T>C (p.Tyr427His) c.1264T>C (p.Tyr422His) c.769T>C (p.Tyr257His) c.580T>C (p.Tyr194His) | dbSNP |
10 | g.86716656T>G | CA377451306 | LDB3 | n.515-2071T>G c.1372T>G (p.Tyr458Asp) c.1420T>G (p.Tyr474Asp) c.1561T>G (p.Tyr521Asp) c.1231T>G (p.Tyr411Asp) c.1576T>G (p.Tyr526Asp) c.1813T>G (p.Tyr605Asp) c.1765T>G (p.Tyr589Asp) c.1624T>G (p.Tyr542Asp) c.1609T>G (p.Tyr537Asp) c.1468T>G (p.Tyr490Asp) c.1279T>G (p.Tyr427Asp) c.1264T>G (p.Tyr422Asp) c.769T>G (p.Tyr257Asp) c.580T>G (p.Tyr194Asp) | |
10 | g.86716656T= | CA1925631978 | LDB3 | n.515-2071T= c.1372T= (p.Tyr458=) c.1420T= (p.Tyr474=) c.1561T= (p.Tyr521=) c.1231T= (p.Tyr411=) c.1576T= (p.Tyr526=) c.1813T= (p.Tyr605=) c.1765T= (p.Tyr589=) c.1624T= (p.Tyr542=) c.1609T= (p.Tyr537=) c.1468T= (p.Tyr490=) c.1279T= (p.Tyr427=) c.1264T= (p.Tyr422=) c.769T= (p.Tyr257=) c.580T= (p.Tyr194=) | |
10 | g.86716657A= | CA1925631979 | LDB3 | n.515-2070A= c.1373A= (p.Tyr458=) c.1421A= (p.Tyr474=) c.1562A= (p.Tyr521=) c.1232A= (p.Tyr411=) c.1577A= (p.Tyr526=) c.1814A= (p.Tyr605=) c.1766A= (p.Tyr589=) c.1625A= (p.Tyr542=) c.1610A= (p.Tyr537=) c.1469A= (p.Tyr490=) c.1280A= (p.Tyr427=) c.1265A= (p.Tyr422=) c.770A= (p.Tyr257=) c.581A= (p.Tyr194=) | |
10 | g.86716657A>C | CA377451307 | LDB3 | n.515-2070A>C c.1373A>C (p.Tyr458Ser) c.1421A>C (p.Tyr474Ser) c.1562A>C (p.Tyr521Ser) c.1232A>C (p.Tyr411Ser) c.1577A>C (p.Tyr526Ser) c.1814A>C (p.Tyr605Ser) c.1766A>C (p.Tyr589Ser) c.1625A>C (p.Tyr542Ser) c.1610A>C (p.Tyr537Ser) c.1469A>C (p.Tyr490Ser) c.1280A>C (p.Tyr427Ser) c.1265A>C (p.Tyr422Ser) c.770A>C (p.Tyr257Ser) c.581A>C (p.Tyr194Ser) | |
10 | g.86716657A>G | CA5585186 | LDB3 | n.515-2070A>G c.1373A>G (p.Tyr458Cys) c.1421A>G (p.Tyr474Cys) c.1562A>G (p.Tyr521Cys) c.1232A>G (p.Tyr411Cys) c.1577A>G (p.Tyr526Cys) c.1814A>G (p.Tyr605Cys) c.1766A>G (p.Tyr589Cys) c.1625A>G (p.Tyr542Cys) c.1610A>G (p.Tyr537Cys) c.1469A>G (p.Tyr490Cys) c.1280A>G (p.Tyr427Cys) c.1265A>G (p.Tyr422Cys) c.770A>G (p.Tyr257Cys) c.581A>G (p.Tyr194Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86716657A>T | CA377451310 | LDB3 | n.515-2070A>T c.1373A>T (p.Tyr458Phe) c.1421A>T (p.Tyr474Phe) c.1562A>T (p.Tyr521Phe) c.1232A>T (p.Tyr411Phe) c.1577A>T (p.Tyr526Phe) c.1814A>T (p.Tyr605Phe) c.1766A>T (p.Tyr589Phe) c.1625A>T (p.Tyr542Phe) c.1610A>T (p.Tyr537Phe) c.1469A>T (p.Tyr490Phe) c.1280A>T (p.Tyr427Phe) c.1265A>T (p.Tyr422Phe) c.770A>T (p.Tyr257Phe) c.581A>T (p.Tyr194Phe) | |
10 | g.86716658C>A | CA377451312 | LDB3 | n.515-2069C>A c.1374C>A (p.Tyr458Ter) c.1422C>A (p.Tyr474Ter) c.1563C>A (p.Tyr521Ter) c.1233C>A (p.Tyr411Ter) c.1578C>A (p.Tyr526Ter) c.1815C>A (p.Tyr605Ter) c.1767C>A (p.Tyr589Ter) c.1626C>A (p.Tyr542Ter) c.1611C>A (p.Tyr537Ter) c.1470C>A (p.Tyr490Ter) c.1281C>A (p.Tyr427Ter) c.1266C>A (p.Tyr422Ter) c.771C>A (p.Tyr257Ter) c.582C>A (p.Tyr194Ter) | |
10 | g.86716658C= | CA1925631980 | LDB3 | n.515-2069C= c.1374C= (p.Tyr458=) c.1422C= (p.Tyr474=) c.1563C= (p.Tyr521=) c.1233C= (p.Tyr411=) c.1578C= (p.Tyr526=) c.1815C= (p.Tyr605=) c.1767C= (p.Tyr589=) c.1626C= (p.Tyr542=) c.1611C= (p.Tyr537=) c.1470C= (p.Tyr490=) c.1281C= (p.Tyr427=) c.1266C= (p.Tyr422=) c.771C= (p.Tyr257=) c.582C= (p.Tyr194=) | |
10 | g.86716658C>G | CA377451314 | LDB3 | n.515-2069C>G c.1374C>G (p.Tyr458Ter) c.1422C>G (p.Tyr474Ter) c.1563C>G (p.Tyr521Ter) c.1233C>G (p.Tyr411Ter) c.1578C>G (p.Tyr526Ter) c.1815C>G (p.Tyr605Ter) c.1767C>G (p.Tyr589Ter) c.1626C>G (p.Tyr542Ter) c.1611C>G (p.Tyr537Ter) c.1470C>G (p.Tyr490Ter) c.1281C>G (p.Tyr427Ter) c.1266C>G (p.Tyr422Ter) c.771C>G (p.Tyr257Ter) c.582C>G (p.Tyr194Ter) | |
10 | g.86716658C>T | CA470376082 | LDB3 | n.515-2069C>T c.1374C>T (p.Tyr458=) c.1422C>T (p.Tyr474=) c.1563C>T (p.Tyr521=) c.1233C>T (p.Tyr411=) c.1578C>T (p.Tyr526=) c.1815C>T (p.Tyr605=) c.1767C>T (p.Tyr589=) c.1626C>T (p.Tyr542=) c.1611C>T (p.Tyr537=) c.1470C>T (p.Tyr490=) c.1281C>T (p.Tyr427=) c.1266C>T (p.Tyr422=) c.771C>T (p.Tyr257=) c.582C>T (p.Tyr194=) | ClinVar dbSNP gnomAD v4 |
10 | g.86716659A>C | CA377451316 | LDB3 | n.515-2068A>C c.1375A>C (p.Thr459Pro) c.1423A>C (p.Thr475Pro) c.1564A>C (p.Thr522Pro) c.1234A>C (p.Thr412Pro) c.1579A>C (p.Thr527Pro) c.1816A>C (p.Thr606Pro) c.1768A>C (p.Thr590Pro) c.1627A>C (p.Thr543Pro) c.1612A>C (p.Thr538Pro) c.1471A>C (p.Thr491Pro) c.1282A>C (p.Thr428Pro) c.1267A>C (p.Thr423Pro) c.772A>C (p.Thr258Pro) c.583A>C (p.Thr195Pro) | |
10 | g.86716659A>G | CA377451320 | LDB3 | n.515-2068A>G c.1375A>G (p.Thr459Ala) c.1423A>G (p.Thr475Ala) c.1564A>G (p.Thr522Ala) c.1234A>G (p.Thr412Ala) c.1579A>G (p.Thr527Ala) c.1816A>G (p.Thr606Ala) c.1768A>G (p.Thr590Ala) c.1627A>G (p.Thr543Ala) c.1612A>G (p.Thr538Ala) c.1471A>G (p.Thr491Ala) c.1282A>G (p.Thr428Ala) c.1267A>G (p.Thr423Ala) c.772A>G (p.Thr258Ala) c.583A>G (p.Thr195Ala) | |
10 | g.86716659A>T | CA377451318 | LDB3 | n.515-2068A>T c.1375A>T (p.Thr459Ser) c.1423A>T (p.Thr475Ser) c.1564A>T (p.Thr522Ser) c.1234A>T (p.Thr412Ser) c.1579A>T (p.Thr527Ser) c.1816A>T (p.Thr606Ser) c.1768A>T (p.Thr590Ser) c.1627A>T (p.Thr543Ser) c.1612A>T (p.Thr538Ser) c.1471A>T (p.Thr491Ser) c.1282A>T (p.Thr428Ser) c.1267A>T (p.Thr423Ser) c.772A>T (p.Thr258Ser) c.583A>T (p.Thr195Ser) | |
10 | g.86716660C>A | CA377451322 | LDB3 | n.515-2067C>A c.1376C>A (p.Thr459Asn) c.1424C>A (p.Thr475Asn) c.1565C>A (p.Thr522Asn) c.1235C>A (p.Thr412Asn) c.1580C>A (p.Thr527Asn) c.1817C>A (p.Thr606Asn) c.1769C>A (p.Thr590Asn) c.1628C>A (p.Thr543Asn) c.1613C>A (p.Thr538Asn) c.1472C>A (p.Thr491Asn) c.1283C>A (p.Thr428Asn) c.1268C>A (p.Thr423Asn) c.773C>A (p.Thr258Asn) c.584C>A (p.Thr195Asn) | ClinVar dbSNP gnomAD v4 |
10 | g.86716660C= | CA1925631981 | LDB3 | n.515-2067C= c.1376C= (p.Thr459=) c.1424C= (p.Thr475=) c.1565C= (p.Thr522=) c.1235C= (p.Thr412=) c.1580C= (p.Thr527=) c.1817C= (p.Thr606=) c.1769C= (p.Thr590=) c.1628C= (p.Thr543=) c.1613C= (p.Thr538=) c.1472C= (p.Thr491=) c.1283C= (p.Thr428=) c.1268C= (p.Thr423=) c.773C= (p.Thr258=) c.584C= (p.Thr195=) | |
10 | g.86716660C>G | CA377451324 | LDB3 | n.515-2067C>G c.1376C>G (p.Thr459Ser) c.1424C>G (p.Thr475Ser) c.1565C>G (p.Thr522Ser) c.1235C>G (p.Thr412Ser) c.1580C>G (p.Thr527Ser) c.1817C>G (p.Thr606Ser) c.1769C>G (p.Thr590Ser) c.1628C>G (p.Thr543Ser) c.1613C>G (p.Thr538Ser) c.1472C>G (p.Thr491Ser) c.1283C>G (p.Thr428Ser) c.1268C>G (p.Thr423Ser) c.773C>G (p.Thr258Ser) c.584C>G (p.Thr195Ser) | |
10 | g.86716660C>T | CA377451326 | LDB3 | n.515-2067C>T c.1376C>T (p.Thr459Ile) c.1424C>T (p.Thr475Ile) c.1565C>T (p.Thr522Ile) c.1235C>T (p.Thr412Ile) c.1580C>T (p.Thr527Ile) c.1817C>T (p.Thr606Ile) c.1769C>T (p.Thr590Ile) c.1628C>T (p.Thr543Ile) c.1613C>T (p.Thr538Ile) c.1472C>T (p.Thr491Ile) c.1283C>T (p.Thr428Ile) c.1268C>T (p.Thr423Ile) c.773C>T (p.Thr258Ile) c.584C>T (p.Thr195Ile) | ClinVar dbSNP gnomAD v4 |
10 | g.86716661C>A | CA470376093 | LDB3 | n.515-2066C>A c.1377C>A (p.Thr459=) c.1425C>A (p.Thr475=) c.1566C>A (p.Thr522=) c.1236C>A (p.Thr412=) c.1581C>A (p.Thr527=) c.1818C>A (p.Thr606=) c.1770C>A (p.Thr590=) c.1629C>A (p.Thr543=) c.1614C>A (p.Thr538=) c.1473C>A (p.Thr491=) c.1284C>A (p.Thr428=) c.1269C>A (p.Thr423=) c.774C>A (p.Thr258=) c.585C>A (p.Thr195=) | |
10 | g.86716661C= | CA1925631982 | LDB3 | n.515-2066C= c.1377C= (p.Thr459=) c.1425C= (p.Thr475=) c.1566C= (p.Thr522=) c.1236C= (p.Thr412=) c.1581C= (p.Thr527=) c.1818C= (p.Thr606=) c.1770C= (p.Thr590=) c.1629C= (p.Thr543=) c.1614C= (p.Thr538=) c.1473C= (p.Thr491=) c.1284C= (p.Thr428=) c.1269C= (p.Thr423=) c.774C= (p.Thr258=) c.585C= (p.Thr195=) | |
10 | g.86716661C>G | CA470376095 | LDB3 | n.515-2066C>G c.1377C>G (p.Thr459=) c.1425C>G (p.Thr475=) c.1566C>G (p.Thr522=) c.1236C>G (p.Thr412=) c.1581C>G (p.Thr527=) c.1818C>G (p.Thr606=) c.1770C>G (p.Thr590=) c.1629C>G (p.Thr543=) c.1614C>G (p.Thr538=) c.1473C>G (p.Thr491=) c.1284C>G (p.Thr428=) c.1269C>G (p.Thr423=) c.774C>G (p.Thr258=) c.585C>G (p.Thr195=) | |
10 | g.86716661C>T | CA5585187 | LDB3 | n.515-2066C>T c.1377C>T (p.Thr459=) c.1425C>T (p.Thr475=) c.1566C>T (p.Thr522=) c.1236C>T (p.Thr412=) c.1581C>T (p.Thr527=) c.1818C>T (p.Thr606=) c.1770C>T (p.Thr590=) c.1629C>T (p.Thr543=) c.1614C>T (p.Thr538=) c.1473C>T (p.Thr491=) c.1284C>T (p.Thr428=) c.1269C>T (p.Thr423=) c.774C>T (p.Thr258=) c.585C>T (p.Thr195=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.86716662C>A | CA377451330 | LDB3 | n.515-2065C>A c.1378C>A (p.Pro460Thr) c.1426C>A (p.Pro476Thr) c.1567C>A (p.Pro523Thr) c.1237C>A (p.Pro413Thr) c.1582C>A (p.Pro528Thr) c.1819C>A (p.Pro607Thr) c.1771C>A (p.Pro591Thr) c.1630C>A (p.Pro544Thr) c.1615C>A (p.Pro539Thr) c.1474C>A (p.Pro492Thr) c.1285C>A (p.Pro429Thr) c.1270C>A (p.Pro424Thr) c.775C>A (p.Pro259Thr) c.586C>A (p.Pro196Thr) | |
10 | g.86716662C= | CA1925631983 | LDB3 | n.515-2065C= c.1378C= (p.Pro460=) c.1426C= (p.Pro476=) c.1567C= (p.Pro523=) c.1237C= (p.Pro413=) c.1582C= (p.Pro528=) c.1819C= (p.Pro607=) c.1771C= (p.Pro591=) c.1630C= (p.Pro544=) c.1615C= (p.Pro539=) c.1474C= (p.Pro492=) c.1285C= (p.Pro429=) c.1270C= (p.Pro424=) c.775C= (p.Pro259=) c.586C= (p.Pro196=) | |
10 | g.86716662C>G | CA308636 | LDB3 | n.515-2065C>G c.1378C>G (p.Pro460Ala) c.1426C>G (p.Pro476Ala) c.1567C>G (p.Pro523Ala) c.1237C>G (p.Pro413Ala) c.1582C>G (p.Pro528Ala) c.1819C>G (p.Pro607Ala) c.1771C>G (p.Pro591Ala) c.1630C>G (p.Pro544Ala) c.1615C>G (p.Pro539Ala) c.1474C>G (p.Pro492Ala) c.1285C>G (p.Pro429Ala) c.1270C>G (p.Pro424Ala) c.775C>G (p.Pro259Ala) c.586C>G (p.Pro196Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86716662C>T | CA377451332 | LDB3 | n.515-2065C>T c.1378C>T (p.Pro460Ser) c.1426C>T (p.Pro476Ser) c.1567C>T (p.Pro523Ser) c.1237C>T (p.Pro413Ser) c.1582C>T (p.Pro528Ser) c.1819C>T (p.Pro607Ser) c.1771C>T (p.Pro591Ser) c.1630C>T (p.Pro544Ser) c.1615C>T (p.Pro539Ser) c.1474C>T (p.Pro492Ser) c.1285C>T (p.Pro429Ser) c.1270C>T (p.Pro424Ser) c.775C>T (p.Pro259Ser) c.586C>T (p.Pro196Ser) | gnomAD v4 |
10 | g.86716663C>A | CA377451334 | LDB3 | n.515-2064C>A c.1379C>A (p.Pro460Gln) c.1427C>A (p.Pro476Gln) c.1568C>A (p.Pro523Gln) c.1238C>A (p.Pro413Gln) c.1583C>A (p.Pro528Gln) c.1820C>A (p.Pro607Gln) c.1772C>A (p.Pro591Gln) c.1631C>A (p.Pro544Gln) c.1616C>A (p.Pro539Gln) c.1475C>A (p.Pro492Gln) c.1286C>A (p.Pro429Gln) c.1271C>A (p.Pro424Gln) c.776C>A (p.Pro259Gln) c.587C>A (p.Pro196Gln) | |
10 | g.86716663C>G | CA377451336 | LDB3 | n.515-2064C>G c.1379C>G (p.Pro460Arg) c.1427C>G (p.Pro476Arg) c.1568C>G (p.Pro523Arg) c.1238C>G (p.Pro413Arg) c.1583C>G (p.Pro528Arg) c.1820C>G (p.Pro607Arg) c.1772C>G (p.Pro591Arg) c.1631C>G (p.Pro544Arg) c.1616C>G (p.Pro539Arg) c.1475C>G (p.Pro492Arg) c.1286C>G (p.Pro429Arg) c.1271C>G (p.Pro424Arg) c.776C>G (p.Pro259Arg) c.587C>G (p.Pro196Arg) | |
10 | g.86716663C>T | CA377451338 | LDB3 | n.515-2064C>T c.1379C>T (p.Pro460Leu) c.1427C>T (p.Pro476Leu) c.1568C>T (p.Pro523Leu) c.1238C>T (p.Pro413Leu) c.1583C>T (p.Pro528Leu) c.1820C>T (p.Pro607Leu) c.1772C>T (p.Pro591Leu) c.1631C>T (p.Pro544Leu) c.1616C>T (p.Pro539Leu) c.1475C>T (p.Pro492Leu) c.1286C>T (p.Pro429Leu) c.1271C>T (p.Pro424Leu) c.776C>T (p.Pro259Leu) c.587C>T (p.Pro196Leu) | |
10 | g.86716664A= | CA1925631984 | LDB3 | n.515-2063A= c.1380A= (p.Pro460=) c.1428A= (p.Pro476=) c.1569A= (p.Pro523=) c.1239A= (p.Pro413=) c.1584A= (p.Pro528=) c.1821A= (p.Pro607=) c.1773A= (p.Pro591=) c.1632A= (p.Pro544=) c.1617A= (p.Pro539=) c.1476A= (p.Pro492=) c.1287A= (p.Pro429=) c.1272A= (p.Pro424=) c.777A= (p.Pro259=) c.588A= (p.Pro196=) | |
10 | g.86716664A>C | CA470376114 | LDB3 | n.515-2063A>C c.1380A>C (p.Pro460=) c.1428A>C (p.Pro476=) c.1569A>C (p.Pro523=) c.1239A>C (p.Pro413=) c.1584A>C (p.Pro528=) c.1821A>C (p.Pro607=) c.1773A>C (p.Pro591=) c.1632A>C (p.Pro544=) c.1617A>C (p.Pro539=) c.1476A>C (p.Pro492=) c.1287A>C (p.Pro429=) c.1272A>C (p.Pro424=) c.777A>C (p.Pro259=) c.588A>C (p.Pro196=) | |
10 | g.86716664A>G | CA5585188 | LDB3 | n.515-2063A>G c.1380A>G (p.Pro460=) c.1428A>G (p.Pro476=) c.1569A>G (p.Pro523=) c.1239A>G (p.Pro413=) c.1584A>G (p.Pro528=) c.1821A>G (p.Pro607=) c.1773A>G (p.Pro591=) c.1632A>G (p.Pro544=) c.1617A>G (p.Pro539=) c.1476A>G (p.Pro492=) c.1287A>G (p.Pro429=) c.1272A>G (p.Pro424=) c.777A>G (p.Pro259=) c.588A>G (p.Pro196=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86716664A>T | CA470376119 | LDB3 | n.515-2063A>T c.1380A>T (p.Pro460=) c.1428A>T (p.Pro476=) c.1569A>T (p.Pro523=) c.1239A>T (p.Pro413=) c.1584A>T (p.Pro528=) c.1821A>T (p.Pro607=) c.1773A>T (p.Pro591=) c.1632A>T (p.Pro544=) c.1617A>T (p.Pro539=) c.1476A>T (p.Pro492=) c.1287A>T (p.Pro429=) c.1272A>T (p.Pro424=) c.777A>T (p.Pro259=) c.588A>T (p.Pro196=) | |
10 | g.86716665G>A | CA377451341 | LDB3 | n.515-2062G>A c.1381G>A (p.Ala461Thr) c.1429G>A (p.Ala477Thr) c.1570G>A (p.Ala524Thr) c.1240G>A (p.Ala414Thr) c.1585G>A (p.Ala529Thr) c.1822G>A (p.Ala608Thr) c.1774G>A (p.Ala592Thr) c.1633G>A (p.Ala545Thr) c.1618G>A (p.Ala540Thr) c.1477G>A (p.Ala493Thr) c.1288G>A (p.Ala430Thr) c.1273G>A (p.Ala425Thr) c.778G>A (p.Ala260Thr) c.589G>A (p.Ala197Thr) | ClinVar dbSNP gnomAD v4 |
10 | g.86716665G>C | CA377451343 | LDB3 | n.515-2062G>C c.1381G>C (p.Ala461Pro) c.1429G>C (p.Ala477Pro) c.1570G>C (p.Ala524Pro) c.1240G>C (p.Ala414Pro) c.1585G>C (p.Ala529Pro) c.1822G>C (p.Ala608Pro) c.1774G>C (p.Ala592Pro) c.1633G>C (p.Ala545Pro) c.1618G>C (p.Ala540Pro) c.1477G>C (p.Ala493Pro) c.1288G>C (p.Ala430Pro) c.1273G>C (p.Ala425Pro) c.778G>C (p.Ala260Pro) c.589G>C (p.Ala197Pro) | |
10 | g.86716665G= | CA1925631985 | LDB3 | n.515-2062G= c.1381G= (p.Ala461=) c.1429G= (p.Ala477=) c.1570G= (p.Ala524=) c.1240G= (p.Ala414=) c.1585G= (p.Ala529=) c.1822G= (p.Ala608=) c.1774G= (p.Ala592=) c.1633G= (p.Ala545=) c.1618G= (p.Ala540=) c.1477G= (p.Ala493=) c.1288G= (p.Ala430=) c.1273G= (p.Ala425=) c.778G= (p.Ala260=) c.589G= (p.Ala197=) | |
10 | g.86716665G>T | CA377451345 | LDB3 | n.515-2062G>T c.1381G>T (p.Ala461Ser) c.1429G>T (p.Ala477Ser) c.1570G>T (p.Ala524Ser) c.1240G>T (p.Ala414Ser) c.1585G>T (p.Ala529Ser) c.1822G>T (p.Ala608Ser) c.1774G>T (p.Ala592Ser) c.1633G>T (p.Ala545Ser) c.1618G>T (p.Ala540Ser) c.1477G>T (p.Ala493Ser) c.1288G>T (p.Ala430Ser) c.1273G>T (p.Ala425Ser) c.778G>T (p.Ala260Ser) c.589G>T (p.Ala197Ser) | gnomAD v4 |
10 | g.86716666C>A | CA377451347 | LDB3 | n.515-2061C>A c.1382C>A (p.Ala461Glu) c.1430C>A (p.Ala477Glu) c.1571C>A (p.Ala524Glu) c.1241C>A (p.Ala414Glu) c.1586C>A (p.Ala529Glu) c.1823C>A (p.Ala608Glu) c.1775C>A (p.Ala592Glu) c.1634C>A (p.Ala545Glu) c.1619C>A (p.Ala540Glu) c.1478C>A (p.Ala493Glu) c.1289C>A (p.Ala430Glu) c.1274C>A (p.Ala425Glu) c.779C>A (p.Ala260Glu) c.590C>A (p.Ala197Glu) | gnomAD v4 |
10 | g.86716666C= | CA1925631986 | LDB3 | n.515-2061C= c.1382C= (p.Ala461=) c.1430C= (p.Ala477=) c.1571C= (p.Ala524=) c.1241C= (p.Ala414=) c.1586C= (p.Ala529=) c.1823C= (p.Ala608=) c.1775C= (p.Ala592=) c.1634C= (p.Ala545=) c.1619C= (p.Ala540=) c.1478C= (p.Ala493=) c.1289C= (p.Ala430=) c.1274C= (p.Ala425=) c.779C= (p.Ala260=) c.590C= (p.Ala197=) | |
10 | g.86716666C>G | CA377451348 | LDB3 | n.515-2061C>G c.1382C>G (p.Ala461Gly) c.1430C>G (p.Ala477Gly) c.1571C>G (p.Ala524Gly) c.1241C>G (p.Ala414Gly) c.1586C>G (p.Ala529Gly) c.1823C>G (p.Ala608Gly) c.1775C>G (p.Ala592Gly) c.1634C>G (p.Ala545Gly) c.1619C>G (p.Ala540Gly) c.1478C>G (p.Ala493Gly) c.1289C>G (p.Ala430Gly) c.1274C>G (p.Ala425Gly) c.779C>G (p.Ala260Gly) c.590C>G (p.Ala197Gly) | |
10 | g.86716666C>T | CA377451350 | LDB3 | n.515-2061C>T c.1382C>T (p.Ala461Val) c.1430C>T (p.Ala477Val) c.1571C>T (p.Ala524Val) c.1241C>T (p.Ala414Val) c.1586C>T (p.Ala529Val) c.1823C>T (p.Ala608Val) c.1775C>T (p.Ala592Val) c.1634C>T (p.Ala545Val) c.1619C>T (p.Ala540Val) c.1478C>T (p.Ala493Val) c.1289C>T (p.Ala430Val) c.1274C>T (p.Ala425Val) c.779C>T (p.Ala260Val) c.590C>T (p.Ala197Val) | dbSNP gnomAD v4 |
10 | g.86716667G>A | CA136543 | LDB3 | n.515-2060G>A c.1383G>A (p.Ala461=) c.1431G>A (p.Ala477=) c.1572G>A (p.Ala524=) c.1242G>A (p.Ala414=) c.1587G>A (p.Ala529=) c.1824G>A (p.Ala608=) c.1776G>A (p.Ala592=) c.1635G>A (p.Ala545=) c.1620G>A (p.Ala540=) c.1479G>A (p.Ala493=) c.1290G>A (p.Ala430=) c.1275G>A (p.Ala425=) c.780G>A (p.Ala260=) c.591G>A (p.Ala197=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86716667G>C | CA470376138 | LDB3 | n.515-2060G>C c.1383G>C (p.Ala461=) c.1431G>C (p.Ala477=) c.1572G>C (p.Ala524=) c.1242G>C (p.Ala414=) c.1587G>C (p.Ala529=) c.1824G>C (p.Ala608=) c.1776G>C (p.Ala592=) c.1635G>C (p.Ala545=) c.1620G>C (p.Ala540=) c.1479G>C (p.Ala493=) c.1290G>C (p.Ala430=) c.1275G>C (p.Ala425=) c.780G>C (p.Ala260=) c.591G>C (p.Ala197=) | |
10 | g.86716667G= | CA1925631987 | LDB3 | n.515-2060G= c.1383G= (p.Ala461=) c.1431G= (p.Ala477=) c.1572G= (p.Ala524=) c.1242G= (p.Ala414=) c.1587G= (p.Ala529=) c.1824G= (p.Ala608=) c.1776G= (p.Ala592=) c.1635G= (p.Ala545=) c.1620G= (p.Ala540=) c.1479G= (p.Ala493=) c.1290G= (p.Ala430=) c.1275G= (p.Ala425=) c.780G= (p.Ala260=) c.591G= (p.Ala197=) | |
10 | g.86716667G>T | CA470376136 | LDB3 | n.515-2060G>T c.1383G>T (p.Ala461=) c.1431G>T (p.Ala477=) c.1572G>T (p.Ala524=) c.1242G>T (p.Ala414=) c.1587G>T (p.Ala529=) c.1824G>T (p.Ala608=) c.1776G>T (p.Ala592=) c.1635G>T (p.Ala545=) c.1620G>T (p.Ala540=) c.1479G>T (p.Ala493=) c.1290G>T (p.Ala430=) c.1275G>T (p.Ala425=) c.780G>T (p.Ala260=) c.591G>T (p.Ala197=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.86716668G>A | CA377451353 | LDB3 | n.515-2059G>A c.1384G>A (p.Gly462Ser) c.1432G>A (p.Gly478Ser) c.1573G>A (p.Gly525Ser) c.1243G>A (p.Gly415Ser) c.1588G>A (p.Gly530Ser) c.1825G>A (p.Gly609Ser) c.1777G>A (p.Gly593Ser) c.1636G>A (p.Gly546Ser) c.1621G>A (p.Gly541Ser) c.1480G>A (p.Gly494Ser) c.1291G>A (p.Gly431Ser) c.1276G>A (p.Gly426Ser) c.781G>A (p.Gly261Ser) c.592G>A (p.Gly198Ser) | |
10 | g.86716668G>C | CA308639 | LDB3 | n.515-2059G>C c.1384G>C (p.Gly462Arg) c.1432G>C (p.Gly478Arg) c.1573G>C (p.Gly525Arg) c.1243G>C (p.Gly415Arg) c.1588G>C (p.Gly530Arg) c.1825G>C (p.Gly609Arg) c.1777G>C (p.Gly593Arg) c.1636G>C (p.Gly546Arg) c.1621G>C (p.Gly541Arg) c.1480G>C (p.Gly494Arg) c.1291G>C (p.Gly431Arg) c.1276G>C (p.Gly426Arg) c.781G>C (p.Gly261Arg) c.592G>C (p.Gly198Arg) | ClinVar dbSNP |
10 | g.86716668G= | CA1925631988 | LDB3 | n.515-2059G= c.1384G= (p.Gly462=) c.1432G= (p.Gly478=) c.1573G= (p.Gly525=) c.1243G= (p.Gly415=) c.1588G= (p.Gly530=) c.1825G= (p.Gly609=) c.1777G= (p.Gly593=) c.1636G= (p.Gly546=) c.1621G= (p.Gly541=) c.1480G= (p.Gly494=) c.1291G= (p.Gly431=) c.1276G= (p.Gly426=) c.781G= (p.Gly261=) c.592G= (p.Gly198=) | |
10 | g.86716668G>T | CA377451355 | LDB3 | n.515-2059G>T c.1384G>T (p.Gly462Cys) c.1432G>T (p.Gly478Cys) c.1573G>T (p.Gly525Cys) c.1243G>T (p.Gly415Cys) c.1588G>T (p.Gly530Cys) c.1825G>T (p.Gly609Cys) c.1777G>T (p.Gly593Cys) c.1636G>T (p.Gly546Cys) c.1621G>T (p.Gly541Cys) c.1480G>T (p.Gly494Cys) c.1291G>T (p.Gly431Cys) c.1276G>T (p.Gly426Cys) c.781G>T (p.Gly261Cys) c.592G>T (p.Gly198Cys) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.86716669G>A | CA377451356 | LDB3 | n.515-2058G>A c.1385G>A (p.Gly462Asp) c.1433G>A (p.Gly478Asp) c.1574G>A (p.Gly525Asp) c.1244G>A (p.Gly415Asp) c.1589G>A (p.Gly530Asp) c.1826G>A (p.Gly609Asp) c.1778G>A (p.Gly593Asp) c.1637G>A (p.Gly546Asp) c.1622G>A (p.Gly541Asp) c.1481G>A (p.Gly494Asp) c.1292G>A (p.Gly431Asp) c.1277G>A (p.Gly426Asp) c.782G>A (p.Gly261Asp) c.593G>A (p.Gly198Asp) | gnomAD v4 COSMIC COSMIC |
10 | g.86716669G>C | CA377451358 | LDB3 | n.515-2058G>C c.1385G>C (p.Gly462Ala) c.1433G>C (p.Gly478Ala) c.1574G>C (p.Gly525Ala) c.1244G>C (p.Gly415Ala) c.1589G>C (p.Gly530Ala) c.1826G>C (p.Gly609Ala) c.1778G>C (p.Gly593Ala) c.1637G>C (p.Gly546Ala) c.1622G>C (p.Gly541Ala) c.1481G>C (p.Gly494Ala) c.1292G>C (p.Gly431Ala) c.1277G>C (p.Gly426Ala) c.782G>C (p.Gly261Ala) c.593G>C (p.Gly198Ala) | ClinVar |
10 | g.86716669G>T | CA377451360 | LDB3 | n.515-2058G>T c.1385G>T (p.Gly462Val) c.1433G>T (p.Gly478Val) c.1574G>T (p.Gly525Val) c.1244G>T (p.Gly415Val) c.1589G>T (p.Gly530Val) c.1826G>T (p.Gly609Val) c.1778G>T (p.Gly593Val) c.1637G>T (p.Gly546Val) c.1622G>T (p.Gly541Val) c.1481G>T (p.Gly494Val) c.1292G>T (p.Gly431Val) c.1277G>T (p.Gly426Val) c.782G>T (p.Gly261Val) c.593G>T (p.Gly198Val) | |
10 | g.86716670T>A | CA470376151 | LDB3 | n.515-2057T>A c.1386T>A (p.Gly462=) c.1434T>A (p.Gly478=) c.1575T>A (p.Gly525=) c.1245T>A (p.Gly415=) c.1590T>A (p.Gly530=) c.1827T>A (p.Gly609=) c.1779T>A (p.Gly593=) c.1638T>A (p.Gly546=) c.1623T>A (p.Gly541=) c.1482T>A (p.Gly494=) c.1293T>A (p.Gly431=) c.1278T>A (p.Gly426=) c.783T>A (p.Gly261=) c.594T>A (p.Gly198=) | |
10 | g.86716670T>C | CA470376153 | LDB3 | n.515-2057T>C c.1386T>C (p.Gly462=) c.1434T>C (p.Gly478=) c.1575T>C (p.Gly525=) c.1245T>C (p.Gly415=) c.1590T>C (p.Gly530=) c.1827T>C (p.Gly609=) c.1779T>C (p.Gly593=) c.1638T>C (p.Gly546=) c.1623T>C (p.Gly541=) c.1482T>C (p.Gly494=) c.1293T>C (p.Gly431=) c.1278T>C (p.Gly426=) c.783T>C (p.Gly261=) c.594T>C (p.Gly198=) | ClinVar gnomAD v4 |
10 | g.86716670T>G | CA470376156 | LDB3 | n.515-2057T>G c.1386T>G (p.Gly462=) c.1434T>G (p.Gly478=) c.1575T>G (p.Gly525=) c.1245T>G (p.Gly415=) c.1590T>G (p.Gly530=) c.1827T>G (p.Gly609=) c.1779T>G (p.Gly593=) c.1638T>G (p.Gly546=) c.1623T>G (p.Gly541=) c.1482T>G (p.Gly494=) c.1293T>G (p.Gly431=) c.1278T>G (p.Gly426=) c.783T>G (p.Gly261=) c.594T>G (p.Gly198=) | |
10 | g.86716671C>A | CA377451363 | LDB3 | n.515-2056C>A c.1387C>A (p.Pro463Thr) c.1435C>A (p.Pro479Thr) c.1576C>A (p.Pro526Thr) c.1246C>A (p.Pro416Thr) c.1591C>A (p.Pro531Thr) c.1828C>A (p.Pro610Thr) c.1780C>A (p.Pro594Thr) c.1639C>A (p.Pro547Thr) c.1624C>A (p.Pro542Thr) c.1483C>A (p.Pro495Thr) c.1294C>A (p.Pro432Thr) c.1279C>A (p.Pro427Thr) c.784C>A (p.Pro262Thr) c.595C>A (p.Pro199Thr) | |
10 | g.86716671C= | CA1925631989 | LDB3 | n.515-2056C= c.1387C= (p.Pro463=) c.1435C= (p.Pro479=) c.1576C= (p.Pro526=) c.1246C= (p.Pro416=) c.1591C= (p.Pro531=) c.1828C= (p.Pro610=) c.1780C= (p.Pro594=) c.1639C= (p.Pro547=) c.1624C= (p.Pro542=) c.1483C= (p.Pro495=) c.1294C= (p.Pro432=) c.1279C= (p.Pro427=) c.784C= (p.Pro262=) c.595C= (p.Pro199=) | |
10 | g.86716671C>G | CA377451365 | LDB3 | n.515-2056C>G c.1387C>G (p.Pro463Ala) c.1435C>G (p.Pro479Ala) c.1576C>G (p.Pro526Ala) c.1246C>G (p.Pro416Ala) c.1591C>G (p.Pro531Ala) c.1828C>G (p.Pro610Ala) c.1780C>G (p.Pro594Ala) c.1639C>G (p.Pro547Ala) c.1624C>G (p.Pro542Ala) c.1483C>G (p.Pro495Ala) c.1294C>G (p.Pro432Ala) c.1279C>G (p.Pro427Ala) c.784C>G (p.Pro262Ala) c.595C>G (p.Pro199Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86716671C>T | CA377451368 | LDB3 | n.515-2056C>T c.1387C>T (p.Pro463Ser) c.1435C>T (p.Pro479Ser) c.1576C>T (p.Pro526Ser) c.1246C>T (p.Pro416Ser) c.1591C>T (p.Pro531Ser) c.1828C>T (p.Pro610Ser) c.1780C>T (p.Pro594Ser) c.1639C>T (p.Pro547Ser) c.1624C>T (p.Pro542Ser) c.1483C>T (p.Pro495Ser) c.1294C>T (p.Pro432Ser) c.1279C>T (p.Pro427Ser) c.784C>T (p.Pro262Ser) c.595C>T (p.Pro199Ser) | |
10 | g.86716672C>A | CA377451371 | LDB3 | n.515-2055C>A c.1388C>A (p.Pro463His) c.1436C>A (p.Pro479His) c.1577C>A (p.Pro526His) c.1247C>A (p.Pro416His) c.1592C>A (p.Pro531His) c.1829C>A (p.Pro610His) c.1781C>A (p.Pro594His) c.1640C>A (p.Pro547His) c.1625C>A (p.Pro542His) c.1484C>A (p.Pro495His) c.1295C>A (p.Pro432His) c.1280C>A (p.Pro427His) c.785C>A (p.Pro262His) c.596C>A (p.Pro199His) | |
10 | g.86716672C>G | CA377451373 | LDB3 | n.515-2055C>G c.1388C>G (p.Pro463Arg) c.1436C>G (p.Pro479Arg) c.1577C>G (p.Pro526Arg) c.1247C>G (p.Pro416Arg) c.1592C>G (p.Pro531Arg) c.1829C>G (p.Pro610Arg) c.1781C>G (p.Pro594Arg) c.1640C>G (p.Pro547Arg) c.1625C>G (p.Pro542Arg) c.1484C>G (p.Pro495Arg) c.1295C>G (p.Pro432Arg) c.1280C>G (p.Pro427Arg) c.785C>G (p.Pro262Arg) c.596C>G (p.Pro199Arg) | gnomAD v4 |
10 | g.86716672C>T | CA377451375 | LDB3 | n.515-2055C>T c.1388C>T (p.Pro463Leu) c.1436C>T (p.Pro479Leu) c.1577C>T (p.Pro526Leu) c.1247C>T (p.Pro416Leu) c.1592C>T (p.Pro531Leu) c.1829C>T (p.Pro610Leu) c.1781C>T (p.Pro594Leu) c.1640C>T (p.Pro547Leu) c.1625C>T (p.Pro542Leu) c.1484C>T (p.Pro495Leu) c.1295C>T (p.Pro432Leu) c.1280C>T (p.Pro427Leu) c.785C>T (p.Pro262Leu) c.596C>T (p.Pro199Leu) | gnomAD v4 |
10 | g.86716673T>A | CA470376172 | LDB3 | n.515-2054T>A c.1389T>A (p.Pro463=) c.1437T>A (p.Pro479=) c.1578T>A (p.Pro526=) c.1248T>A (p.Pro416=) c.1593T>A (p.Pro531=) c.1830T>A (p.Pro610=) c.1782T>A (p.Pro594=) c.1641T>A (p.Pro547=) c.1626T>A (p.Pro542=) c.1485T>A (p.Pro495=) c.1296T>A (p.Pro432=) c.1281T>A (p.Pro427=) c.786T>A (p.Pro262=) c.597T>A (p.Pro199=) | |
10 | g.86716673T>C | CA470376175 | LDB3 | n.515-2054T>C c.1389T>C (p.Pro463=) c.1437T>C (p.Pro479=) c.1578T>C (p.Pro526=) c.1248T>C (p.Pro416=) c.1593T>C (p.Pro531=) c.1830T>C (p.Pro610=) c.1782T>C (p.Pro594=) c.1641T>C (p.Pro547=) c.1626T>C (p.Pro542=) c.1485T>C (p.Pro495=) c.1296T>C (p.Pro432=) c.1281T>C (p.Pro427=) c.786T>C (p.Pro262=) c.597T>C (p.Pro199=) | dbSNP gnomAD v4 |
10 | g.86716673T>G | CA470376174 | LDB3 | n.515-2054T>G c.1389T>G (p.Pro463=) c.1437T>G (p.Pro479=) c.1578T>G (p.Pro526=) c.1248T>G (p.Pro416=) c.1593T>G (p.Pro531=) c.1830T>G (p.Pro610=) c.1782T>G (p.Pro594=) c.1641T>G (p.Pro547=) c.1626T>G (p.Pro542=) c.1485T>G (p.Pro495=) c.1296T>G (p.Pro432=) c.1281T>G (p.Pro427=) c.786T>G (p.Pro262=) c.597T>G (p.Pro199=) | |
10 | g.86716674C>A | CA377451377 | LDB3 | n.515-2053C>A c.1390C>A (p.Gln464Lys) c.1438C>A (p.Gln480Lys) c.1579C>A (p.Gln527Lys) c.1249C>A (p.Gln417Lys) c.1594C>A (p.Gln532Lys) c.1831C>A (p.Gln611Lys) c.1783C>A (p.Gln595Lys) c.1642C>A (p.Gln548Lys) c.1627C>A (p.Gln543Lys) c.1486C>A (p.Gln496Lys) c.1297C>A (p.Gln433Lys) c.1282C>A (p.Gln428Lys) c.787C>A (p.Gln263Lys) c.598C>A (p.Gln200Lys) | |
10 | g.86716674C>G | CA377451379 | LDB3 | n.515-2053C>G c.1390C>G (p.Gln464Glu) c.1438C>G (p.Gln480Glu) c.1579C>G (p.Gln527Glu) c.1249C>G (p.Gln417Glu) c.1594C>G (p.Gln532Glu) c.1831C>G (p.Gln611Glu) c.1783C>G (p.Gln595Glu) c.1642C>G (p.Gln548Glu) c.1627C>G (p.Gln543Glu) c.1486C>G (p.Gln496Glu) c.1297C>G (p.Gln433Glu) c.1282C>G (p.Gln428Glu) c.787C>G (p.Gln263Glu) c.598C>G (p.Gln200Glu) | |
10 | g.86716674C>T | CA377451387 | LDB3 | n.515-2053C>T c.1390C>T (p.Gln464Ter) c.1438C>T (p.Gln480Ter) c.1579C>T (p.Gln527Ter) c.1249C>T (p.Gln417Ter) c.1594C>T (p.Gln532Ter) c.1831C>T (p.Gln611Ter) c.1783C>T (p.Gln595Ter) c.1642C>T (p.Gln548Ter) c.1627C>T (p.Gln543Ter) c.1486C>T (p.Gln496Ter) c.1297C>T (p.Gln433Ter) c.1282C>T (p.Gln428Ter) c.787C>T (p.Gln263Ter) c.598C>T (p.Gln200Ter) | |
10 | g.86716675A>C | CA377451394 | LDB3 | n.515-2052A>C c.1391A>C (p.Gln464Pro) c.1439A>C (p.Gln480Pro) c.1580A>C (p.Gln527Pro) c.1250A>C (p.Gln417Pro) c.1595A>C (p.Gln532Pro) c.1832A>C (p.Gln611Pro) c.1784A>C (p.Gln595Pro) c.1643A>C (p.Gln548Pro) c.1628A>C (p.Gln543Pro) c.1487A>C (p.Gln496Pro) c.1298A>C (p.Gln433Pro) c.1283A>C (p.Gln428Pro) c.788A>C (p.Gln263Pro) c.599A>C (p.Gln200Pro) | |
10 | g.86716675A>G | CA377451389 | LDB3 | n.515-2052A>G c.1391A>G (p.Gln464Arg) c.1439A>G (p.Gln480Arg) c.1580A>G (p.Gln527Arg) c.1250A>G (p.Gln417Arg) c.1595A>G (p.Gln532Arg) c.1832A>G (p.Gln611Arg) c.1784A>G (p.Gln595Arg) c.1643A>G (p.Gln548Arg) c.1628A>G (p.Gln543Arg) c.1487A>G (p.Gln496Arg) c.1298A>G (p.Gln433Arg) c.1283A>G (p.Gln428Arg) c.788A>G (p.Gln263Arg) c.599A>G (p.Gln200Arg) | |
10 | g.86716675A>T | CA377451391 | LDB3 | n.515-2052A>T c.1391A>T (p.Gln464Leu) c.1439A>T (p.Gln480Leu) c.1580A>T (p.Gln527Leu) c.1250A>T (p.Gln417Leu) c.1595A>T (p.Gln532Leu) c.1832A>T (p.Gln611Leu) c.1784A>T (p.Gln595Leu) c.1643A>T (p.Gln548Leu) c.1628A>T (p.Gln543Leu) c.1487A>T (p.Gln496Leu) c.1298A>T (p.Gln433Leu) c.1283A>T (p.Gln428Leu) c.788A>T (p.Gln263Leu) c.599A>T (p.Gln200Leu) | |
10 | g.86716676G>A | CA470376192 | LDB3 | n.515-2051G>A c.1392G>A (p.Gln464=) c.1440G>A (p.Gln480=) c.1581G>A (p.Gln527=) c.1251G>A (p.Gln417=) c.1596G>A (p.Gln532=) c.1833G>A (p.Gln611=) c.1785G>A (p.Gln595=) c.1644G>A (p.Gln548=) c.1629G>A (p.Gln543=) c.1488G>A (p.Gln496=) c.1299G>A (p.Gln433=) c.1284G>A (p.Gln428=) c.789G>A (p.Gln263=) c.600G>A (p.Gln200=) | |
10 | g.86716676G>C | CA377451396 | LDB3 | n.515-2051G>C c.1392G>C (p.Gln464His) c.1440G>C (p.Gln480His) c.1581G>C (p.Gln527His) c.1251G>C (p.Gln417His) c.1596G>C (p.Gln532His) c.1833G>C (p.Gln611His) c.1785G>C (p.Gln595His) c.1644G>C (p.Gln548His) c.1629G>C (p.Gln543His) c.1488G>C (p.Gln496His) c.1299G>C (p.Gln433His) c.1284G>C (p.Gln428His) c.789G>C (p.Gln263His) c.600G>C (p.Gln200His) | |
10 | g.86716676G>T | CA377451398 | LDB3 | n.515-2051G>T c.1392G>T (p.Gln464His) c.1440G>T (p.Gln480His) c.1581G>T (p.Gln527His) c.1251G>T (p.Gln417His) c.1596G>T (p.Gln532His) c.1833G>T (p.Gln611His) c.1785G>T (p.Gln595His) c.1644G>T (p.Gln548His) c.1629G>T (p.Gln543His) c.1488G>T (p.Gln496His) c.1299G>T (p.Gln433His) c.1284G>T (p.Gln428His) c.789G>T (p.Gln263His) c.600G>T (p.Gln200His) | |
10 | g.86716677G>A | CA377451399 | LDB3 | n.515-2050G>A c.1393G>A (p.Val465Met) c.1441G>A (p.Val481Met) c.1582G>A (p.Val528Met) c.1252G>A (p.Val418Met) c.1597G>A (p.Val533Met) c.1834G>A (p.Val612Met) c.1786G>A (p.Val596Met) c.1645G>A (p.Val549Met) c.1630G>A (p.Val544Met) c.1489G>A (p.Val497Met) c.1300G>A (p.Val434Met) c.1285G>A (p.Val429Met) c.790G>A (p.Val264Met) c.601G>A (p.Val201Met) | dbSNP gnomAD v4 |
10 | g.86716677G>C | CA377451401 | LDB3 | n.515-2050G>C c.1393G>C (p.Val465Leu) c.1441G>C (p.Val481Leu) c.1582G>C (p.Val528Leu) c.1252G>C (p.Val418Leu) c.1597G>C (p.Val533Leu) c.1834G>C (p.Val612Leu) c.1786G>C (p.Val596Leu) c.1645G>C (p.Val549Leu) c.1630G>C (p.Val544Leu) c.1489G>C (p.Val497Leu) c.1300G>C (p.Val434Leu) c.1285G>C (p.Val429Leu) c.790G>C (p.Val264Leu) c.601G>C (p.Val201Leu) | gnomAD v4 |
10 | g.86716677G= | CA1925631990 | LDB3 | n.515-2050G= c.1393G= (p.Val465=) c.1441G= (p.Val481=) c.1582G= (p.Val528=) c.1252G= (p.Val418=) c.1597G= (p.Val533=) c.1834G= (p.Val612=) c.1786G= (p.Val596=) c.1645G= (p.Val549=) c.1630G= (p.Val544=) c.1489G= (p.Val497=) c.1300G= (p.Val434=) c.1285G= (p.Val429=) c.790G= (p.Val264=) c.601G= (p.Val201=) | |
10 | g.86716677G>T | CA377451406 | LDB3 | n.515-2050G>T c.1393G>T (p.Val465Leu) c.1441G>T (p.Val481Leu) c.1582G>T (p.Val528Leu) c.1252G>T (p.Val418Leu) c.1597G>T (p.Val533Leu) c.1834G>T (p.Val612Leu) c.1786G>T (p.Val596Leu) c.1645G>T (p.Val549Leu) c.1630G>T (p.Val544Leu) c.1489G>T (p.Val497Leu) c.1300G>T (p.Val434Leu) c.1285G>T (p.Val429Leu) c.790G>T (p.Val264Leu) c.601G>T (p.Val201Leu) | |
10 | g.86716678T>A | CA377451408 | LDB3 | n.515-2049T>A c.1394T>A (p.Val465Glu) c.1442T>A (p.Val481Glu) c.1583T>A (p.Val528Glu) c.1253T>A (p.Val418Glu) c.1598T>A (p.Val533Glu) c.1835T>A (p.Val612Glu) c.1787T>A (p.Val596Glu) c.1646T>A (p.Val549Glu) c.1631T>A (p.Val544Glu) c.1490T>A (p.Val497Glu) c.1301T>A (p.Val434Glu) c.1286T>A (p.Val429Glu) c.791T>A (p.Val264Glu) c.602T>A (p.Val201Glu) | |
10 | g.86716678T>C | CA377451410 | LDB3 | n.515-2049T>C c.1394T>C (p.Val465Ala) c.1442T>C (p.Val481Ala) c.1583T>C (p.Val528Ala) c.1253T>C (p.Val418Ala) c.1598T>C (p.Val533Ala) c.1835T>C (p.Val612Ala) c.1787T>C (p.Val596Ala) c.1646T>C (p.Val549Ala) c.1631T>C (p.Val544Ala) c.1490T>C (p.Val497Ala) c.1301T>C (p.Val434Ala) c.1286T>C (p.Val429Ala) c.791T>C (p.Val264Ala) c.602T>C (p.Val201Ala) | |
10 | g.86716678T>G | CA377451412 | LDB3 | n.515-2049T>G c.1394T>G (p.Val465Gly) c.1442T>G (p.Val481Gly) c.1583T>G (p.Val528Gly) c.1253T>G (p.Val418Gly) c.1598T>G (p.Val533Gly) c.1835T>G (p.Val612Gly) c.1787T>G (p.Val596Gly) c.1646T>G (p.Val549Gly) c.1631T>G (p.Val544Gly) c.1490T>G (p.Val497Gly) c.1301T>G (p.Val434Gly) c.1286T>G (p.Val429Gly) c.791T>G (p.Val264Gly) c.602T>G (p.Val201Gly) | |
10 | g.86716679G>A | CA470376207 | LDB3 | n.515-2048G>A c.1395G>A (p.Val465=) c.1443G>A (p.Val481=) c.1584G>A (p.Val528=) c.1254G>A (p.Val418=) c.1599G>A (p.Val533=) c.1836G>A (p.Val612=) c.1788G>A (p.Val596=) c.1647G>A (p.Val549=) c.1632G>A (p.Val544=) c.1491G>A (p.Val497=) c.1302G>A (p.Val434=) c.1287G>A (p.Val429=) c.792G>A (p.Val264=) c.603G>A (p.Val201=) | gnomAD v4 |
10 | g.86716679G>C | CA470376212 | LDB3 | n.515-2048G>C c.1395G>C (p.Val465=) c.1443G>C (p.Val481=) c.1584G>C (p.Val528=) c.1254G>C (p.Val418=) c.1599G>C (p.Val533=) c.1836G>C (p.Val612=) c.1788G>C (p.Val596=) c.1647G>C (p.Val549=) c.1632G>C (p.Val544=) c.1491G>C (p.Val497=) c.1302G>C (p.Val434=) c.1287G>C (p.Val429=) c.792G>C (p.Val264=) c.603G>C (p.Val201=) | |
10 | g.86716679G>T | CA470376213 | LDB3 | n.515-2048G>T c.1395G>T (p.Val465=) c.1443G>T (p.Val481=) c.1584G>T (p.Val528=) c.1254G>T (p.Val418=) c.1599G>T (p.Val533=) c.1836G>T (p.Val612=) c.1788G>T (p.Val596=) c.1647G>T (p.Val549=) c.1632G>T (p.Val544=) c.1491G>T (p.Val497=) c.1302G>T (p.Val434=) c.1287G>T (p.Val429=) c.792G>T (p.Val264=) c.603G>T (p.Val201=) | |
10 | g.86716680C>A | CA377451416 | LDB3 | n.515-2047C>A c.1396C>A (p.Pro466Thr) c.1444C>A (p.Pro482Thr) c.1585C>A (p.Pro529Thr) c.1255C>A (p.Pro419Thr) c.1600C>A (p.Pro534Thr) c.1837C>A (p.Pro613Thr) c.1789C>A (p.Pro597Thr) c.1648C>A (p.Pro550Thr) c.1633C>A (p.Pro545Thr) c.1492C>A (p.Pro498Thr) c.1303C>A (p.Pro435Thr) c.1288C>A (p.Pro430Thr) c.793C>A (p.Pro265Thr) c.604C>A (p.Pro202Thr) | |
10 | g.86716680C>G | CA377451417 | LDB3 | n.515-2047C>G c.1396C>G (p.Pro466Ala) c.1444C>G (p.Pro482Ala) c.1585C>G (p.Pro529Ala) c.1255C>G (p.Pro419Ala) c.1600C>G (p.Pro534Ala) c.1837C>G (p.Pro613Ala) c.1789C>G (p.Pro597Ala) c.1648C>G (p.Pro550Ala) c.1633C>G (p.Pro545Ala) c.1492C>G (p.Pro498Ala) c.1303C>G (p.Pro435Ala) c.1288C>G (p.Pro430Ala) c.793C>G (p.Pro265Ala) c.604C>G (p.Pro202Ala) | gnomAD v4 |
10 | g.86716680C>T | CA377451419 | LDB3 | n.515-2047C>T c.1396C>T (p.Pro466Ser) c.1444C>T (p.Pro482Ser) c.1585C>T (p.Pro529Ser) c.1255C>T (p.Pro419Ser) c.1600C>T (p.Pro534Ser) c.1837C>T (p.Pro613Ser) c.1789C>T (p.Pro597Ser) c.1648C>T (p.Pro550Ser) c.1633C>T (p.Pro545Ser) c.1492C>T (p.Pro498Ser) c.1303C>T (p.Pro435Ser) c.1288C>T (p.Pro430Ser) c.793C>T (p.Pro265Ser) c.604C>T (p.Pro202Ser) | |
10 | g.86716681C>A | CA377451426 | LDB3 | n.515-2046C>A c.1397C>A (p.Pro466Gln) c.1445C>A (p.Pro482Gln) c.1586C>A (p.Pro529Gln) c.1256C>A (p.Pro419Gln) c.1601C>A (p.Pro534Gln) c.1838C>A (p.Pro613Gln) c.1790C>A (p.Pro597Gln) c.1649C>A (p.Pro550Gln) c.1634C>A (p.Pro545Gln) c.1493C>A (p.Pro498Gln) c.1304C>A (p.Pro435Gln) c.1289C>A (p.Pro430Gln) c.794C>A (p.Pro265Gln) c.605C>A (p.Pro202Gln) | |
10 | g.86716681C= | CA1925631991 | LDB3 | n.515-2046C= c.1397C= (p.Pro466=) c.1445C= (p.Pro482=) c.1586C= (p.Pro529=) c.1256C= (p.Pro419=) c.1601C= (p.Pro534=) c.1838C= (p.Pro613=) c.1790C= (p.Pro597=) c.1649C= (p.Pro550=) c.1634C= (p.Pro545=) c.1493C= (p.Pro498=) c.1304C= (p.Pro435=) c.1289C= (p.Pro430=) c.794C= (p.Pro265=) c.605C= (p.Pro202=) | |
10 | g.86716681C>G | CA136546 | LDB3 | n.515-2046C>G c.1397C>G (p.Pro466Arg) c.1445C>G (p.Pro482Arg) c.1586C>G (p.Pro529Arg) c.1256C>G (p.Pro419Arg) c.1601C>G (p.Pro534Arg) c.1838C>G (p.Pro613Arg) c.1790C>G (p.Pro597Arg) c.1649C>G (p.Pro550Arg) c.1634C>G (p.Pro545Arg) c.1493C>G (p.Pro498Arg) c.1304C>G (p.Pro435Arg) c.1289C>G (p.Pro430Arg) c.794C>G (p.Pro265Arg) c.605C>G (p.Pro202Arg) | ClinVar dbSNP gnomAD v4 |
10 | g.86716681C>T | CA377451421 | LDB3 | n.515-2046C>T c.1397C>T (p.Pro466Leu) c.1445C>T (p.Pro482Leu) c.1586C>T (p.Pro529Leu) c.1256C>T (p.Pro419Leu) c.1601C>T (p.Pro534Leu) c.1838C>T (p.Pro613Leu) c.1790C>T (p.Pro597Leu) c.1649C>T (p.Pro550Leu) c.1634C>T (p.Pro545Leu) c.1493C>T (p.Pro498Leu) c.1304C>T (p.Pro435Leu) c.1289C>T (p.Pro430Leu) c.794C>T (p.Pro265Leu) c.605C>T (p.Pro202Leu) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.86716682A>C | CA470376232 | LDB3 | n.515-2045A>C c.1398A>C (p.Pro466=) c.1446A>C (p.Pro482=) c.1587A>C (p.Pro529=) c.1257A>C (p.Pro419=) c.1602A>C (p.Pro534=) c.1839A>C (p.Pro613=) c.1791A>C (p.Pro597=) c.1650A>C (p.Pro550=) c.1635A>C (p.Pro545=) c.1494A>C (p.Pro498=) c.1305A>C (p.Pro435=) c.1290A>C (p.Pro430=) c.795A>C (p.Pro265=) c.606A>C (p.Pro202=) | |
10 | g.86716682A>G | CA470376227 | LDB3 | n.515-2045A>G c.1398A>G (p.Pro466=) c.1446A>G (p.Pro482=) c.1587A>G (p.Pro529=) c.1257A>G (p.Pro419=) c.1602A>G (p.Pro534=) c.1839A>G (p.Pro613=) c.1791A>G (p.Pro597=) c.1650A>G (p.Pro550=) c.1635A>G (p.Pro545=) c.1494A>G (p.Pro498=) c.1305A>G (p.Pro435=) c.1290A>G (p.Pro430=) c.795A>G (p.Pro265=) c.606A>G (p.Pro202=) | ClinVar dbSNP |
10 | g.86716682A>T | CA470376229 | LDB3 | n.515-2045A>T c.1398A>T (p.Pro466=) c.1446A>T (p.Pro482=) c.1587A>T (p.Pro529=) c.1257A>T (p.Pro419=) c.1602A>T (p.Pro534=) c.1839A>T (p.Pro613=) c.1791A>T (p.Pro597=) c.1650A>T (p.Pro550=) c.1635A>T (p.Pro545=) c.1494A>T (p.Pro498=) c.1305A>T (p.Pro435=) c.1290A>T (p.Pro430=) c.795A>T (p.Pro265=) c.606A>T (p.Pro202=) | |
10 | g.86716683C>A | CA377451429 | LDB3 | n.515-2044C>A c.1399C>A (p.Pro467Thr) c.1447C>A (p.Pro483Thr) c.1588C>A (p.Pro530Thr) c.1258C>A (p.Pro420Thr) c.1603C>A (p.Pro535Thr) c.1840C>A (p.Pro614Thr) c.1792C>A (p.Pro598Thr) c.1651C>A (p.Pro551Thr) c.1636C>A (p.Pro546Thr) c.1495C>A (p.Pro499Thr) c.1306C>A (p.Pro436Thr) c.1291C>A (p.Pro431Thr) c.796C>A (p.Pro266Thr) c.607C>A (p.Pro203Thr) | |
10 | g.86716683C>G | CA377451428 | LDB3 | n.515-2044C>G c.1399C>G (p.Pro467Ala) c.1447C>G (p.Pro483Ala) c.1588C>G (p.Pro530Ala) c.1258C>G (p.Pro420Ala) c.1603C>G (p.Pro535Ala) c.1840C>G (p.Pro614Ala) c.1792C>G (p.Pro598Ala) c.1651C>G (p.Pro551Ala) c.1636C>G (p.Pro546Ala) c.1495C>G (p.Pro499Ala) c.1306C>G (p.Pro436Ala) c.1291C>G (p.Pro431Ala) c.796C>G (p.Pro266Ala) c.607C>G (p.Pro203Ala) | |
10 | g.86716683C>T | CA377451431 | LDB3 | n.515-2044C>T c.1399C>T (p.Pro467Ser) c.1447C>T (p.Pro483Ser) c.1588C>T (p.Pro530Ser) c.1258C>T (p.Pro420Ser) c.1603C>T (p.Pro535Ser) c.1840C>T (p.Pro614Ser) c.1792C>T (p.Pro598Ser) c.1651C>T (p.Pro551Ser) c.1636C>T (p.Pro546Ser) c.1495C>T (p.Pro499Ser) c.1306C>T (p.Pro436Ser) c.1291C>T (p.Pro431Ser) c.796C>T (p.Pro266Ser) c.607C>T (p.Pro203Ser) | |
10 | g.86716684C>A | CA377451433 | LDB3 | n.515-2043C>A c.1400C>A (p.Pro467Gln) c.1448C>A (p.Pro483Gln) c.1589C>A (p.Pro530Gln) c.1259C>A (p.Pro420Gln) c.1604C>A (p.Pro535Gln) c.1841C>A (p.Pro614Gln) c.1793C>A (p.Pro598Gln) c.1652C>A (p.Pro551Gln) c.1637C>A (p.Pro546Gln) c.1496C>A (p.Pro499Gln) c.1307C>A (p.Pro436Gln) c.1292C>A (p.Pro431Gln) c.797C>A (p.Pro266Gln) c.608C>A (p.Pro203Gln) | |
10 | g.86716684C>G | CA377451435 | LDB3 | n.515-2043C>G c.1400C>G (p.Pro467Arg) c.1448C>G (p.Pro483Arg) c.1589C>G (p.Pro530Arg) c.1259C>G (p.Pro420Arg) c.1604C>G (p.Pro535Arg) c.1841C>G (p.Pro614Arg) c.1793C>G (p.Pro598Arg) c.1652C>G (p.Pro551Arg) c.1637C>G (p.Pro546Arg) c.1496C>G (p.Pro499Arg) c.1307C>G (p.Pro436Arg) c.1292C>G (p.Pro431Arg) c.797C>G (p.Pro266Arg) c.608C>G (p.Pro203Arg) | |
10 | g.86716684C>T | CA377451437 | LDB3 | n.515-2043C>T c.1400C>T (p.Pro467Leu) c.1448C>T (p.Pro483Leu) c.1589C>T (p.Pro530Leu) c.1259C>T (p.Pro420Leu) c.1604C>T (p.Pro535Leu) c.1841C>T (p.Pro614Leu) c.1793C>T (p.Pro598Leu) c.1652C>T (p.Pro551Leu) c.1637C>T (p.Pro546Leu) c.1496C>T (p.Pro499Leu) c.1307C>T (p.Pro436Leu) c.1292C>T (p.Pro431Leu) c.797C>T (p.Pro266Leu) c.608C>T (p.Pro203Leu) | |
10 | g.86716685A= | CA1925631992 | LDB3 | n.515-2042A= c.1401A= (p.Pro467=) c.1449A= (p.Pro483=) c.1590A= (p.Pro530=) c.1260A= (p.Pro420=) c.1605A= (p.Pro535=) c.1842A= (p.Pro614=) c.1794A= (p.Pro598=) c.1653A= (p.Pro551=) c.1638A= (p.Pro546=) c.1497A= (p.Pro499=) c.1308A= (p.Pro436=) c.1293A= (p.Pro431=) c.798A= (p.Pro266=) c.609A= (p.Pro203=) | |
10 | g.86716685A>C | CA470376245 | LDB3 | n.515-2042A>C c.1401A>C (p.Pro467=) c.1449A>C (p.Pro483=) c.1590A>C (p.Pro530=) c.1260A>C (p.Pro420=) c.1605A>C (p.Pro535=) c.1842A>C (p.Pro614=) c.1794A>C (p.Pro598=) c.1653A>C (p.Pro551=) c.1638A>C (p.Pro546=) c.1497A>C (p.Pro499=) c.1308A>C (p.Pro436=) c.1293A>C (p.Pro431=) c.798A>C (p.Pro266=) c.609A>C (p.Pro203=) | |
10 | g.86716685A>G | CA5585189 | LDB3 | n.515-2042A>G c.1401A>G (p.Pro467=) c.1449A>G (p.Pro483=) c.1590A>G (p.Pro530=) c.1260A>G (p.Pro420=) c.1605A>G (p.Pro535=) c.1842A>G (p.Pro614=) c.1794A>G (p.Pro598=) c.1653A>G (p.Pro551=) c.1638A>G (p.Pro546=) c.1497A>G (p.Pro499=) c.1308A>G (p.Pro436=) c.1293A>G (p.Pro431=) c.798A>G (p.Pro266=) c.609A>G (p.Pro203=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86716685A>T | CA470376249 | LDB3 | n.515-2042A>T c.1401A>T (p.Pro467=) c.1449A>T (p.Pro483=) c.1590A>T (p.Pro530=) c.1260A>T (p.Pro420=) c.1605A>T (p.Pro535=) c.1842A>T (p.Pro614=) c.1794A>T (p.Pro598=) c.1653A>T (p.Pro551=) c.1638A>T (p.Pro546=) c.1497A>T (p.Pro499=) c.1308A>T (p.Pro436=) c.1293A>T (p.Pro431=) c.798A>T (p.Pro266=) c.609A>T (p.Pro203=) | |
10 | g.86716686C>A | CA377451439 | LDB3 | n.515-2041C>A c.1402C>A (p.Leu468Ile) c.1450C>A (p.Leu484Ile) c.1591C>A (p.Leu531Ile) c.1261C>A (p.Leu421Ile) c.1606C>A (p.Leu536Ile) c.1843C>A (p.Leu615Ile) c.1795C>A (p.Leu599Ile) c.1654C>A (p.Leu552Ile) c.1639C>A (p.Leu547Ile) c.1498C>A (p.Leu500Ile) c.1309C>A (p.Leu437Ile) c.1294C>A (p.Leu432Ile) c.799C>A (p.Leu267Ile) c.610C>A (p.Leu204Ile) | gnomAD v4 |
10 | g.86716686C>G | CA377451440 | LDB3 | n.515-2041C>G c.1402C>G (p.Leu468Val) c.1450C>G (p.Leu484Val) c.1591C>G (p.Leu531Val) c.1261C>G (p.Leu421Val) c.1606C>G (p.Leu536Val) c.1843C>G (p.Leu615Val) c.1795C>G (p.Leu599Val) c.1654C>G (p.Leu552Val) c.1639C>G (p.Leu547Val) c.1498C>G (p.Leu500Val) c.1309C>G (p.Leu437Val) c.1294C>G (p.Leu432Val) c.799C>G (p.Leu267Val) c.610C>G (p.Leu204Val) | ClinVar dbSNP gnomAD v4 |
10 | g.86716686C>T | CA377451441 | LDB3 | n.515-2041C>T c.1402C>T (p.Leu468Phe) c.1450C>T (p.Leu484Phe) c.1591C>T (p.Leu531Phe) c.1261C>T (p.Leu421Phe) c.1606C>T (p.Leu536Phe) c.1843C>T (p.Leu615Phe) c.1795C>T (p.Leu599Phe) c.1654C>T (p.Leu552Phe) c.1639C>T (p.Leu547Phe) c.1498C>T (p.Leu500Phe) c.1309C>T (p.Leu437Phe) c.1294C>T (p.Leu432Phe) c.799C>T (p.Leu267Phe) c.610C>T (p.Leu204Phe) | |
10 | g.86716687T>A | CA377451442 | LDB3 | n.515-2040T>A c.1403T>A (p.Leu468His) c.1451T>A (p.Leu484His) c.1592T>A (p.Leu531His) c.1262T>A (p.Leu421His) c.1607T>A (p.Leu536His) c.1844T>A (p.Leu615His) c.1796T>A (p.Leu599His) c.1655T>A (p.Leu552His) c.1640T>A (p.Leu547His) c.1499T>A (p.Leu500His) c.1310T>A (p.Leu437His) c.1295T>A (p.Leu432His) c.800T>A (p.Leu267His) c.611T>A (p.Leu204His) | |
10 | g.86716687T>C | CA377451443 | LDB3 | n.515-2040T>C c.1403T>C (p.Leu468Pro) c.1451T>C (p.Leu484Pro) c.1592T>C (p.Leu531Pro) c.1262T>C (p.Leu421Pro) c.1607T>C (p.Leu536Pro) c.1844T>C (p.Leu615Pro) c.1796T>C (p.Leu599Pro) c.1655T>C (p.Leu552Pro) c.1640T>C (p.Leu547Pro) c.1499T>C (p.Leu500Pro) c.1310T>C (p.Leu437Pro) c.1295T>C (p.Leu432Pro) c.800T>C (p.Leu267Pro) c.611T>C (p.Leu204Pro) | |
10 | g.86716687T>G | CA377451444 | LDB3 | n.515-2040T>G c.1403T>G (p.Leu468Arg) c.1451T>G (p.Leu484Arg) c.1592T>G (p.Leu531Arg) c.1262T>G (p.Leu421Arg) c.1607T>G (p.Leu536Arg) c.1844T>G (p.Leu615Arg) c.1796T>G (p.Leu599Arg) c.1655T>G (p.Leu552Arg) c.1640T>G (p.Leu547Arg) c.1499T>G (p.Leu500Arg) c.1310T>G (p.Leu437Arg) c.1295T>G (p.Leu432Arg) c.800T>G (p.Leu267Arg) c.611T>G (p.Leu204Arg) | |
10 | g.86716688T>A | CA470376262 | LDB3 | n.515-2039T>A c.1404T>A (p.Leu468=) c.1452T>A (p.Leu484=) c.1593T>A (p.Leu531=) c.1263T>A (p.Leu421=) c.1608T>A (p.Leu536=) c.1845T>A (p.Leu615=) c.1797T>A (p.Leu599=) c.1656T>A (p.Leu552=) c.1641T>A (p.Leu547=) c.1500T>A (p.Leu500=) c.1311T>A (p.Leu437=) c.1296T>A (p.Leu432=) c.801T>A (p.Leu267=) c.612T>A (p.Leu204=) | COSMIC COSMIC COSMIC |
10 | g.86716688T>C | CA470376263 | LDB3 | n.515-2039T>C c.1404T>C (p.Leu468=) c.1452T>C (p.Leu484=) c.1593T>C (p.Leu531=) c.1263T>C (p.Leu421=) c.1608T>C (p.Leu536=) c.1845T>C (p.Leu615=) c.1797T>C (p.Leu599=) c.1656T>C (p.Leu552=) c.1641T>C (p.Leu547=) c.1500T>C (p.Leu500=) c.1311T>C (p.Leu437=) c.1296T>C (p.Leu432=) c.801T>C (p.Leu267=) c.612T>C (p.Leu204=) | |
10 | g.86716688T>G | CA470376265 | LDB3 | n.515-2039T>G c.1404T>G (p.Leu468=) c.1452T>G (p.Leu484=) c.1593T>G (p.Leu531=) c.1263T>G (p.Leu421=) c.1608T>G (p.Leu536=) c.1845T>G (p.Leu615=) c.1797T>G (p.Leu599=) c.1656T>G (p.Leu552=) c.1641T>G (p.Leu547=) c.1500T>G (p.Leu500=) c.1311T>G (p.Leu437=) c.1296T>G (p.Leu432=) c.801T>G (p.Leu267=) c.612T>G (p.Leu204=) | |
10 | g.86716689G>A | CA377451446 | LDB3 | n.515-2038G>A c.1405G>A (p.Ala469Thr) c.1453G>A (p.Ala485Thr) c.1594G>A (p.Ala532Thr) c.1264G>A (p.Ala422Thr) c.1609G>A (p.Ala537Thr) c.1846G>A (p.Ala616Thr) c.1798G>A (p.Ala600Thr) c.1657G>A (p.Ala553Thr) c.1642G>A (p.Ala548Thr) c.1501G>A (p.Ala501Thr) c.1312G>A (p.Ala438Thr) c.1297G>A (p.Ala433Thr) c.802G>A (p.Ala268Thr) c.613G>A (p.Ala205Thr) | |
10 | g.86716689G>C | CA308642 | LDB3 | n.515-2038G>C c.1405G>C (p.Ala469Pro) c.1453G>C (p.Ala485Pro) c.1594G>C (p.Ala532Pro) c.1264G>C (p.Ala422Pro) c.1609G>C (p.Ala537Pro) c.1846G>C (p.Ala616Pro) c.1798G>C (p.Ala600Pro) c.1657G>C (p.Ala553Pro) c.1642G>C (p.Ala548Pro) c.1501G>C (p.Ala501Pro) c.1312G>C (p.Ala438Pro) c.1297G>C (p.Ala433Pro) c.802G>C (p.Ala268Pro) c.613G>C (p.Ala205Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.86716689G= | CA1925631993 | LDB3 | n.515-2038G= c.1405G= (p.Ala469=) c.1453G= (p.Ala485=) c.1594G= (p.Ala532=) c.1264G= (p.Ala422=) c.1609G= (p.Ala537=) c.1846G= (p.Ala616=) c.1798G= (p.Ala600=) c.1657G= (p.Ala553=) c.1642G= (p.Ala548=) c.1501G= (p.Ala501=) c.1312G= (p.Ala438=) c.1297G= (p.Ala433=) c.802G= (p.Ala268=) c.613G= (p.Ala205=) | |
10 | g.86716689G>T | CA377451449 | LDB3 | n.515-2038G>T c.1405G>T (p.Ala469Ser) c.1453G>T (p.Ala485Ser) c.1594G>T (p.Ala532Ser) c.1264G>T (p.Ala422Ser) c.1609G>T (p.Ala537Ser) c.1846G>T (p.Ala616Ser) c.1798G>T (p.Ala600Ser) c.1657G>T (p.Ala553Ser) c.1642G>T (p.Ala548Ser) c.1501G>T (p.Ala501Ser) c.1312G>T (p.Ala438Ser) c.1297G>T (p.Ala433Ser) c.802G>T (p.Ala268Ser) c.613G>T (p.Ala205Ser) | |
10 | g.86716690C>A | CA377451451 | LDB3 | n.515-2037C>A c.1406C>A (p.Ala469Asp) c.1454C>A (p.Ala485Asp) c.1595C>A (p.Ala532Asp) c.1265C>A (p.Ala422Asp) c.1610C>A (p.Ala537Asp) c.1847C>A (p.Ala616Asp) c.1799C>A (p.Ala600Asp) c.1658C>A (p.Ala553Asp) c.1643C>A (p.Ala548Asp) c.1502C>A (p.Ala501Asp) c.1313C>A (p.Ala438Asp) c.1298C>A (p.Ala433Asp) c.803C>A (p.Ala268Asp) c.614C>A (p.Ala205Asp) | |
10 | g.86716690C>G | CA377451453 | LDB3 | n.515-2037C>G c.1406C>G (p.Ala469Gly) c.1454C>G (p.Ala485Gly) c.1595C>G (p.Ala532Gly) c.1265C>G (p.Ala422Gly) c.1610C>G (p.Ala537Gly) c.1847C>G (p.Ala616Gly) c.1799C>G (p.Ala600Gly) c.1658C>G (p.Ala553Gly) c.1643C>G (p.Ala548Gly) c.1502C>G (p.Ala501Gly) c.1313C>G (p.Ala438Gly) c.1298C>G (p.Ala433Gly) c.803C>G (p.Ala268Gly) c.614C>G (p.Ala205Gly) | |
10 | g.86716690C>T | CA377451452 | LDB3 | n.515-2037C>T c.1406C>T (p.Ala469Val) c.1454C>T (p.Ala485Val) c.1595C>T (p.Ala532Val) c.1265C>T (p.Ala422Val) c.1610C>T (p.Ala537Val) c.1847C>T (p.Ala616Val) c.1799C>T (p.Ala600Val) c.1658C>T (p.Ala553Val) c.1643C>T (p.Ala548Val) c.1502C>T (p.Ala501Val) c.1313C>T (p.Ala438Val) c.1298C>T (p.Ala433Val) c.803C>T (p.Ala268Val) c.614C>T (p.Ala205Val) |