Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.86716550C>ACA470375413LDB3n.515-2177C>A
c.1266C>A (p.Ala422=)
c.1314C>A (p.Ala438=)
c.1455C>A (p.Ala485=)
c.1125C>A (p.Ala375=)
c.1470C>A (p.Ala490=)
c.1707C>A (p.Ala569=)
c.1659C>A (p.Ala553=)
c.1518C>A (p.Ala506=)
c.1503C>A (p.Ala501=)
c.1362C>A (p.Ala454=)
c.1173C>A (p.Ala391=)
c.1158C>A (p.Ala386=)
c.663C>A (p.Ala221=)
c.474C>A (p.Ala158=)
10g.86716550C>GCA470375415LDB3n.515-2177C>G
c.1266C>G (p.Ala422=)
c.1314C>G (p.Ala438=)
c.1455C>G (p.Ala485=)
c.1125C>G (p.Ala375=)
c.1470C>G (p.Ala490=)
c.1707C>G (p.Ala569=)
c.1659C>G (p.Ala553=)
c.1518C>G (p.Ala506=)
c.1503C>G (p.Ala501=)
c.1362C>G (p.Ala454=)
c.1173C>G (p.Ala391=)
c.1158C>G (p.Ala386=)
c.663C>G (p.Ala221=)
c.474C>G (p.Ala158=)
10g.86716550C>TCA470375417LDB3n.515-2177C>T
c.1266C>T (p.Ala422=)
c.1314C>T (p.Ala438=)
c.1455C>T (p.Ala485=)
c.1125C>T (p.Ala375=)
c.1470C>T (p.Ala490=)
c.1707C>T (p.Ala569=)
c.1659C>T (p.Ala553=)
c.1518C>T (p.Ala506=)
c.1503C>T (p.Ala501=)
c.1362C>T (p.Ala454=)
c.1173C>T (p.Ala391=)
c.1158C>T (p.Ala386=)
c.663C>T (p.Ala221=)
c.474C>T (p.Ala158=)
10g.86716551A=CA1925631931LDB3n.515-2176A=
c.1267A= (p.Ser423=)
c.1315A= (p.Ser439=)
c.1456A= (p.Ser486=)
c.1126A= (p.Ser376=)
c.1471A= (p.Ser491=)
c.1708A= (p.Ser570=)
c.1660A= (p.Ser554=)
c.1519A= (p.Ser507=)
c.1504A= (p.Ser502=)
c.1363A= (p.Ser455=)
c.1174A= (p.Ser392=)
c.1159A= (p.Ser387=)
c.664A= (p.Ser222=)
c.475A= (p.Ser159=)
10g.86716551A>CCA377450797LDB3n.515-2176A>C
c.1267A>C (p.Ser423Arg)
c.1315A>C (p.Ser439Arg)
c.1456A>C (p.Ser486Arg)
c.1126A>C (p.Ser376Arg)
c.1471A>C (p.Ser491Arg)
c.1708A>C (p.Ser570Arg)
c.1660A>C (p.Ser554Arg)
c.1519A>C (p.Ser507Arg)
c.1504A>C (p.Ser502Arg)
c.1363A>C (p.Ser455Arg)
c.1174A>C (p.Ser392Arg)
c.1159A>C (p.Ser387Arg)
c.664A>C (p.Ser222Arg)
c.475A>C (p.Ser159Arg)
10g.86716551A>GCA377450793LDB3n.515-2176A>G
c.1267A>G (p.Ser423Gly)
c.1315A>G (p.Ser439Gly)
c.1456A>G (p.Ser486Gly)
c.1126A>G (p.Ser376Gly)
c.1471A>G (p.Ser491Gly)
c.1708A>G (p.Ser570Gly)
c.1660A>G (p.Ser554Gly)
c.1519A>G (p.Ser507Gly)
c.1504A>G (p.Ser502Gly)
c.1363A>G (p.Ser455Gly)
c.1174A>G (p.Ser392Gly)
c.1159A>G (p.Ser387Gly)
c.664A>G (p.Ser222Gly)
c.475A>G (p.Ser159Gly)
10g.86716551A>TCA377450796LDB3n.515-2176A>T
c.1267A>T (p.Ser423Cys)
c.1315A>T (p.Ser439Cys)
c.1456A>T (p.Ser486Cys)
c.1126A>T (p.Ser376Cys)
c.1471A>T (p.Ser491Cys)
c.1708A>T (p.Ser570Cys)
c.1660A>T (p.Ser554Cys)
c.1519A>T (p.Ser507Cys)
c.1504A>T (p.Ser502Cys)
c.1363A>T (p.Ser455Cys)
c.1174A>T (p.Ser392Cys)
c.1159A>T (p.Ser387Cys)
c.664A>T (p.Ser222Cys)
c.475A>T (p.Ser159Cys)
 gnomAD v4
10g.86716552G>ACA377450800LDB3n.515-2175G>A
c.1268G>A (p.Ser423Asn)
c.1316G>A (p.Ser439Asn)
c.1457G>A (p.Ser486Asn)
c.1127G>A (p.Ser376Asn)
c.1472G>A (p.Ser491Asn)
c.1709G>A (p.Ser570Asn)
c.1661G>A (p.Ser554Asn)
c.1520G>A (p.Ser507Asn)
c.1505G>A (p.Ser502Asn)
c.1364G>A (p.Ser455Asn)
c.1175G>A (p.Ser392Asn)
c.1160G>A (p.Ser387Asn)
c.665G>A (p.Ser222Asn)
c.476G>A (p.Ser159Asn)
 gnomAD v4
10g.86716552G>CCA377450802LDB3n.515-2175G>C
c.1268G>C (p.Ser423Thr)
c.1316G>C (p.Ser439Thr)
c.1457G>C (p.Ser486Thr)
c.1127G>C (p.Ser376Thr)
c.1472G>C (p.Ser491Thr)
c.1709G>C (p.Ser570Thr)
c.1661G>C (p.Ser554Thr)
c.1520G>C (p.Ser507Thr)
c.1505G>C (p.Ser502Thr)
c.1364G>C (p.Ser455Thr)
c.1175G>C (p.Ser392Thr)
c.1160G>C (p.Ser387Thr)
c.665G>C (p.Ser222Thr)
c.476G>C (p.Ser159Thr)
10g.86716552G>TCA377450803LDB3n.515-2175G>T
c.1268G>T (p.Ser423Ile)
c.1316G>T (p.Ser439Ile)
c.1457G>T (p.Ser486Ile)
c.1127G>T (p.Ser376Ile)
c.1472G>T (p.Ser491Ile)
c.1709G>T (p.Ser570Ile)
c.1661G>T (p.Ser554Ile)
c.1520G>T (p.Ser507Ile)
c.1505G>T (p.Ser502Ile)
c.1364G>T (p.Ser455Ile)
c.1175G>T (p.Ser392Ile)
c.1160G>T (p.Ser387Ile)
c.665G>T (p.Ser222Ile)
c.476G>T (p.Ser159Ile)
10g.86716552dupCA1139661540LDB3n.515-2175dup
c.1268dup (p.Ser423ArgfsTer9)
c.1316dup (p.Ser439ArgfsTer9)
c.1457dup (p.Ser486ArgfsTer9)
c.1127dup (p.Ser376ArgfsTer9)
c.1472dup (p.Ser491ArgfsTer9)
c.1709dup (p.Ser570ArgfsTer9)
c.1661dup (p.Ser554ArgfsTer9)
c.1520dup (p.Ser507ArgfsTer9)
c.1505dup (p.Ser502ArgfsTer9)
c.1364dup (p.Ser455ArgfsTer9)
c.1175dup (p.Ser392ArgfsTer9)
c.1160dup (p.Ser387ArgfsTer9)
c.665dup (p.Ser222ArgfsTer9)
c.476dup (p.Ser159ArgfsTer9)
 ClinVar dbSNP
10g.86716553C>ACA377450804LDB3n.515-2174C>A
c.1269C>A (p.Ser423Arg)
c.1317C>A (p.Ser439Arg)
c.1458C>A (p.Ser486Arg)
c.1128C>A (p.Ser376Arg)
c.1473C>A (p.Ser491Arg)
c.1710C>A (p.Ser570Arg)
c.1662C>A (p.Ser554Arg)
c.1521C>A (p.Ser507Arg)
c.1506C>A (p.Ser502Arg)
c.1365C>A (p.Ser455Arg)
c.1176C>A (p.Ser392Arg)
c.1161C>A (p.Ser387Arg)
c.666C>A (p.Ser222Arg)
c.477C>A (p.Ser159Arg)
10g.86716553C>GCA377450807LDB3n.515-2174C>G
c.1269C>G (p.Ser423Arg)
c.1317C>G (p.Ser439Arg)
c.1458C>G (p.Ser486Arg)
c.1128C>G (p.Ser376Arg)
c.1473C>G (p.Ser491Arg)
c.1710C>G (p.Ser570Arg)
c.1662C>G (p.Ser554Arg)
c.1521C>G (p.Ser507Arg)
c.1506C>G (p.Ser502Arg)
c.1365C>G (p.Ser455Arg)
c.1176C>G (p.Ser392Arg)
c.1161C>G (p.Ser387Arg)
c.666C>G (p.Ser222Arg)
c.477C>G (p.Ser159Arg)
10g.86716553C>TCA470375435LDB3n.515-2174C>T
c.1269C>T (p.Ser423=)
c.1317C>T (p.Ser439=)
c.1458C>T (p.Ser486=)
c.1128C>T (p.Ser376=)
c.1473C>T (p.Ser491=)
c.1710C>T (p.Ser570=)
c.1662C>T (p.Ser554=)
c.1521C>T (p.Ser507=)
c.1506C>T (p.Ser502=)
c.1365C>T (p.Ser455=)
c.1176C>T (p.Ser392=)
c.1161C>T (p.Ser387=)
c.666C>T (p.Ser222=)
c.477C>T (p.Ser159=)
 ClinVar dbSNP COSMIC COSMIC COSMIC
10g.86716554delCA2574457123LDB3n.515-2173del
c.1270del (p.Arg424ValfsTer5)
c.1318del (p.Arg440ValfsTer5)
c.1459del (p.Arg487ValfsTer5)
c.1129del (p.Arg377ValfsTer5)
c.1474del (p.Arg492ValfsTer5)
c.1711del (p.Arg571ValfsTer5)
c.1663del (p.Arg555ValfsTer5)
c.1522del (p.Arg508ValfsTer5)
c.1507del (p.Arg503ValfsTer5)
c.1366del (p.Arg456ValfsTer5)
c.1177del (p.Arg393ValfsTer5)
c.1162del (p.Arg388ValfsTer5)
c.667del (p.Arg223ValfsTer5)
c.478del (p.Arg160ValfsTer5)
10g.86716554C>ACA377450810LDB3n.515-2173C>A
c.1270C>A (p.Arg424Ser)
c.1318C>A (p.Arg440Ser)
c.1459C>A (p.Arg487Ser)
c.1129C>A (p.Arg377Ser)
c.1474C>A (p.Arg492Ser)
c.1711C>A (p.Arg571Ser)
c.1663C>A (p.Arg555Ser)
c.1522C>A (p.Arg508Ser)
c.1507C>A (p.Arg503Ser)
c.1366C>A (p.Arg456Ser)
c.1177C>A (p.Arg393Ser)
c.1162C>A (p.Arg388Ser)
c.667C>A (p.Arg223Ser)
c.478C>A (p.Arg160Ser)
10g.86716554C=CA1925631932LDB3n.515-2173C=
c.1270C= (p.Arg424=)
c.1318C= (p.Arg440=)
c.1459C= (p.Arg487=)
c.1129C= (p.Arg377=)
c.1474C= (p.Arg492=)
c.1711C= (p.Arg571=)
c.1663C= (p.Arg555=)
c.1522C= (p.Arg508=)
c.1507C= (p.Arg503=)
c.1366C= (p.Arg456=)
c.1177C= (p.Arg393=)
c.1162C= (p.Arg388=)
c.667C= (p.Arg223=)
c.478C= (p.Arg160=)
10g.86716554C>GCA377450816LDB3n.515-2173C>G
c.1270C>G (p.Arg424Gly)
c.1318C>G (p.Arg440Gly)
c.1459C>G (p.Arg487Gly)
c.1129C>G (p.Arg377Gly)
c.1474C>G (p.Arg492Gly)
c.1711C>G (p.Arg571Gly)
c.1663C>G (p.Arg555Gly)
c.1522C>G (p.Arg508Gly)
c.1507C>G (p.Arg503Gly)
c.1366C>G (p.Arg456Gly)
c.1177C>G (p.Arg393Gly)
c.1162C>G (p.Arg388Gly)
c.667C>G (p.Arg223Gly)
c.478C>G (p.Arg160Gly)
10g.86716554C>TCA211205381LDB3n.515-2173C>T
c.1270C>T (p.Arg424Cys)
c.1318C>T (p.Arg440Cys)
c.1459C>T (p.Arg487Cys)
c.1129C>T (p.Arg377Cys)
c.1474C>T (p.Arg492Cys)
c.1711C>T (p.Arg571Cys)
c.1663C>T (p.Arg555Cys)
c.1522C>T (p.Arg508Cys)
c.1507C>T (p.Arg503Cys)
c.1366C>T (p.Arg456Cys)
c.1177C>T (p.Arg393Cys)
c.1162C>T (p.Arg388Cys)
c.667C>T (p.Arg223Cys)
c.478C>T (p.Arg160Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.86716555G>ACA136519LDB3n.515-2172G>A
c.1271G>A (p.Arg424His)
c.1319G>A (p.Arg440His)
c.1460G>A (p.Arg487His)
c.1130G>A (p.Arg377His)
c.1475G>A (p.Arg492His)
c.1712G>A (p.Arg571His)
c.1664G>A (p.Arg555His)
c.1523G>A (p.Arg508His)
c.1508G>A (p.Arg503His)
c.1367G>A (p.Arg456His)
c.1178G>A (p.Arg393His)
c.1163G>A (p.Arg388His)
c.668G>A (p.Arg223His)
c.479G>A (p.Arg160His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716555G>CCA377450823LDB3n.515-2172G>C
c.1271G>C (p.Arg424Pro)
c.1319G>C (p.Arg440Pro)
c.1460G>C (p.Arg487Pro)
c.1130G>C (p.Arg377Pro)
c.1475G>C (p.Arg492Pro)
c.1712G>C (p.Arg571Pro)
c.1664G>C (p.Arg555Pro)
c.1523G>C (p.Arg508Pro)
c.1508G>C (p.Arg503Pro)
c.1367G>C (p.Arg456Pro)
c.1178G>C (p.Arg393Pro)
c.1163G>C (p.Arg388Pro)
c.668G>C (p.Arg223Pro)
c.479G>C (p.Arg160Pro)
 dbSNP
10g.86716555G=CA1925631933LDB3n.515-2172G=
c.1271G= (p.Arg424=)
c.1319G= (p.Arg440=)
c.1460G= (p.Arg487=)
c.1130G= (p.Arg377=)
c.1475G= (p.Arg492=)
c.1712G= (p.Arg571=)
c.1664G= (p.Arg555=)
c.1523G= (p.Arg508=)
c.1508G= (p.Arg503=)
c.1367G= (p.Arg456=)
c.1178G= (p.Arg393=)
c.1163G= (p.Arg388=)
c.668G= (p.Arg223=)
c.479G= (p.Arg160=)
10g.86716555G>TCA377450832LDB3n.515-2172G>T
c.1271G>T (p.Arg424Leu)
c.1319G>T (p.Arg440Leu)
c.1460G>T (p.Arg487Leu)
c.1130G>T (p.Arg377Leu)
c.1475G>T (p.Arg492Leu)
c.1712G>T (p.Arg571Leu)
c.1664G>T (p.Arg555Leu)
c.1523G>T (p.Arg508Leu)
c.1508G>T (p.Arg503Leu)
c.1367G>T (p.Arg456Leu)
c.1178G>T (p.Arg393Leu)
c.1163G>T (p.Arg388Leu)
c.668G>T (p.Arg223Leu)
c.479G>T (p.Arg160Leu)
10g.86716556T>ACA470375450LDB3n.515-2171T>A
c.1272T>A (p.Arg424=)
c.1320T>A (p.Arg440=)
c.1461T>A (p.Arg487=)
c.1131T>A (p.Arg377=)
c.1476T>A (p.Arg492=)
c.1713T>A (p.Arg571=)
c.1665T>A (p.Arg555=)
c.1524T>A (p.Arg508=)
c.1509T>A (p.Arg503=)
c.1368T>A (p.Arg456=)
c.1179T>A (p.Arg393=)
c.1164T>A (p.Arg388=)
c.669T>A (p.Arg223=)
c.480T>A (p.Arg160=)
 dbSNP
10g.86716556T>CCA470375453LDB3n.515-2171T>C
c.1272T>C (p.Arg424=)
c.1320T>C (p.Arg440=)
c.1461T>C (p.Arg487=)
c.1131T>C (p.Arg377=)
c.1476T>C (p.Arg492=)
c.1713T>C (p.Arg571=)
c.1665T>C (p.Arg555=)
c.1524T>C (p.Arg508=)
c.1509T>C (p.Arg503=)
c.1368T>C (p.Arg456=)
c.1179T>C (p.Arg393=)
c.1164T>C (p.Arg388=)
c.669T>C (p.Arg223=)
c.480T>C (p.Arg160=)
10g.86716556T>GCA470375456LDB3n.515-2171T>G
c.1272T>G (p.Arg424=)
c.1320T>G (p.Arg440=)
c.1461T>G (p.Arg487=)
c.1131T>G (p.Arg377=)
c.1476T>G (p.Arg492=)
c.1713T>G (p.Arg571=)
c.1665T>G (p.Arg555=)
c.1524T>G (p.Arg508=)
c.1509T>G (p.Arg503=)
c.1368T>G (p.Arg456=)
c.1179T>G (p.Arg393=)
c.1164T>G (p.Arg388=)
c.669T>G (p.Arg223=)
c.480T>G (p.Arg160=)
10g.86716556T=CA1925631934LDB3n.515-2171T=
c.1272T= (p.Arg424=)
c.1320T= (p.Arg440=)
c.1461T= (p.Arg487=)
c.1131T= (p.Arg377=)
c.1476T= (p.Arg492=)
c.1713T= (p.Arg571=)
c.1665T= (p.Arg555=)
c.1524T= (p.Arg508=)
c.1509T= (p.Arg503=)
c.1368T= (p.Arg456=)
c.1179T= (p.Arg393=)
c.1164T= (p.Arg388=)
c.669T= (p.Arg223=)
c.480T= (p.Arg160=)
10g.86716557C>ACA377450846LDB3n.515-2170C>A
c.1273C>A (p.Pro425Thr)
c.1321C>A (p.Pro441Thr)
c.1462C>A (p.Pro488Thr)
c.1132C>A (p.Pro378Thr)
c.1477C>A (p.Pro493Thr)
c.1714C>A (p.Pro572Thr)
c.1666C>A (p.Pro556Thr)
c.1525C>A (p.Pro509Thr)
c.1510C>A (p.Pro504Thr)
c.1369C>A (p.Pro457Thr)
c.1180C>A (p.Pro394Thr)
c.1165C>A (p.Pro389Thr)
c.670C>A (p.Pro224Thr)
c.481C>A (p.Pro161Thr)
10g.86716557C>GCA377450845LDB3n.515-2170C>G
c.1273C>G (p.Pro425Ala)
c.1321C>G (p.Pro441Ala)
c.1462C>G (p.Pro488Ala)
c.1132C>G (p.Pro378Ala)
c.1477C>G (p.Pro493Ala)
c.1714C>G (p.Pro572Ala)
c.1666C>G (p.Pro556Ala)
c.1525C>G (p.Pro509Ala)
c.1510C>G (p.Pro504Ala)
c.1369C>G (p.Pro457Ala)
c.1180C>G (p.Pro394Ala)
c.1165C>G (p.Pro389Ala)
c.670C>G (p.Pro224Ala)
c.481C>G (p.Pro161Ala)
10g.86716557C>TCA377450844LDB3n.515-2170C>T
c.1273C>T (p.Pro425Ser)
c.1321C>T (p.Pro441Ser)
c.1462C>T (p.Pro488Ser)
c.1132C>T (p.Pro378Ser)
c.1477C>T (p.Pro493Ser)
c.1714C>T (p.Pro572Ser)
c.1666C>T (p.Pro556Ser)
c.1525C>T (p.Pro509Ser)
c.1510C>T (p.Pro504Ser)
c.1369C>T (p.Pro457Ser)
c.1180C>T (p.Pro394Ser)
c.1165C>T (p.Pro389Ser)
c.670C>T (p.Pro224Ser)
c.481C>T (p.Pro161Ser)
10g.86716558C>ACA377450847LDB3n.515-2169C>A
c.1274C>A (p.Pro425Gln)
c.1322C>A (p.Pro441Gln)
c.1463C>A (p.Pro488Gln)
c.1133C>A (p.Pro378Gln)
c.1478C>A (p.Pro493Gln)
c.1715C>A (p.Pro572Gln)
c.1667C>A (p.Pro556Gln)
c.1526C>A (p.Pro509Gln)
c.1511C>A (p.Pro504Gln)
c.1370C>A (p.Pro457Gln)
c.1181C>A (p.Pro394Gln)
c.1166C>A (p.Pro389Gln)
c.671C>A (p.Pro224Gln)
c.482C>A (p.Pro161Gln)
10g.86716558C=CA1925631935LDB3n.515-2169C=
c.1274C= (p.Pro425=)
c.1322C= (p.Pro441=)
c.1463C= (p.Pro488=)
c.1133C= (p.Pro378=)
c.1478C= (p.Pro493=)
c.1715C= (p.Pro572=)
c.1667C= (p.Pro556=)
c.1526C= (p.Pro509=)
c.1511C= (p.Pro504=)
c.1370C= (p.Pro457=)
c.1181C= (p.Pro394=)
c.1166C= (p.Pro389=)
c.671C= (p.Pro224=)
c.482C= (p.Pro161=)
10g.86716558C>GCA377450848LDB3n.515-2169C>G
c.1274C>G (p.Pro425Arg)
c.1322C>G (p.Pro441Arg)
c.1463C>G (p.Pro488Arg)
c.1133C>G (p.Pro378Arg)
c.1478C>G (p.Pro493Arg)
c.1715C>G (p.Pro572Arg)
c.1667C>G (p.Pro556Arg)
c.1526C>G (p.Pro509Arg)
c.1511C>G (p.Pro504Arg)
c.1370C>G (p.Pro457Arg)
c.1181C>G (p.Pro394Arg)
c.1166C>G (p.Pro389Arg)
c.671C>G (p.Pro224Arg)
c.482C>G (p.Pro161Arg)
10g.86716558C>TCA377450850LDB3n.515-2169C>T
c.1274C>T (p.Pro425Leu)
c.1322C>T (p.Pro441Leu)
c.1463C>T (p.Pro488Leu)
c.1133C>T (p.Pro378Leu)
c.1478C>T (p.Pro493Leu)
c.1715C>T (p.Pro572Leu)
c.1667C>T (p.Pro556Leu)
c.1526C>T (p.Pro509Leu)
c.1511C>T (p.Pro504Leu)
c.1370C>T (p.Pro457Leu)
c.1181C>T (p.Pro394Leu)
c.1166C>T (p.Pro389Leu)
c.671C>T (p.Pro224Leu)
c.482C>T (p.Pro161Leu)
 dbSNP
10g.86716559A>CCA470375467LDB3n.515-2168A>C
c.1275A>C (p.Pro425=)
c.1323A>C (p.Pro441=)
c.1464A>C (p.Pro488=)
c.1134A>C (p.Pro378=)
c.1479A>C (p.Pro493=)
c.1716A>C (p.Pro572=)
c.1668A>C (p.Pro556=)
c.1527A>C (p.Pro509=)
c.1512A>C (p.Pro504=)
c.1371A>C (p.Pro457=)
c.1182A>C (p.Pro394=)
c.1167A>C (p.Pro389=)
c.672A>C (p.Pro224=)
c.483A>C (p.Pro161=)
10g.86716559A>GCA470375471LDB3n.515-2168A>G
c.1275A>G (p.Pro425=)
c.1323A>G (p.Pro441=)
c.1464A>G (p.Pro488=)
c.1134A>G (p.Pro378=)
c.1479A>G (p.Pro493=)
c.1716A>G (p.Pro572=)
c.1668A>G (p.Pro556=)
c.1527A>G (p.Pro509=)
c.1512A>G (p.Pro504=)
c.1371A>G (p.Pro457=)
c.1182A>G (p.Pro394=)
c.1167A>G (p.Pro389=)
c.672A>G (p.Pro224=)
c.483A>G (p.Pro161=)
 gnomAD v4
10g.86716559A>TCA470375470LDB3n.515-2168A>T
c.1275A>T (p.Pro425=)
c.1323A>T (p.Pro441=)
c.1464A>T (p.Pro488=)
c.1134A>T (p.Pro378=)
c.1479A>T (p.Pro493=)
c.1716A>T (p.Pro572=)
c.1668A>T (p.Pro556=)
c.1527A>T (p.Pro509=)
c.1512A>T (p.Pro504=)
c.1371A>T (p.Pro457=)
c.1182A>T (p.Pro394=)
c.1167A>T (p.Pro389=)
c.672A>T (p.Pro224=)
c.483A>T (p.Pro161=)
10g.86716560C>ACA377450852LDB3n.515-2167C>A
c.1276C>A (p.Pro426Thr)
c.1324C>A (p.Pro442Thr)
c.1465C>A (p.Pro489Thr)
c.1135C>A (p.Pro379Thr)
c.1480C>A (p.Pro494Thr)
c.1717C>A (p.Pro573Thr)
c.1669C>A (p.Pro557Thr)
c.1528C>A (p.Pro510Thr)
c.1513C>A (p.Pro505Thr)
c.1372C>A (p.Pro458Thr)
c.1183C>A (p.Pro395Thr)
c.1168C>A (p.Pro390Thr)
c.673C>A (p.Pro225Thr)
c.484C>A (p.Pro162Thr)
10g.86716560C=CA1925631936LDB3n.515-2167C=
c.1276C= (p.Pro426=)
c.1324C= (p.Pro442=)
c.1465C= (p.Pro489=)
c.1135C= (p.Pro379=)
c.1480C= (p.Pro494=)
c.1717C= (p.Pro573=)
c.1669C= (p.Pro557=)
c.1528C= (p.Pro510=)
c.1513C= (p.Pro505=)
c.1372C= (p.Pro458=)
c.1183C= (p.Pro395=)
c.1168C= (p.Pro390=)
c.673C= (p.Pro225=)
c.484C= (p.Pro162=)
10g.86716560C>GCA377450854LDB3n.515-2167C>G
c.1276C>G (p.Pro426Ala)
c.1324C>G (p.Pro442Ala)
c.1465C>G (p.Pro489Ala)
c.1135C>G (p.Pro379Ala)
c.1480C>G (p.Pro494Ala)
c.1717C>G (p.Pro573Ala)
c.1669C>G (p.Pro557Ala)
c.1528C>G (p.Pro510Ala)
c.1513C>G (p.Pro505Ala)
c.1372C>G (p.Pro458Ala)
c.1183C>G (p.Pro395Ala)
c.1168C>G (p.Pro390Ala)
c.673C>G (p.Pro225Ala)
c.484C>G (p.Pro162Ala)
10g.86716560C>TCA5585166LDB3n.515-2167C>T
c.1276C>T (p.Pro426Ser)
c.1324C>T (p.Pro442Ser)
c.1465C>T (p.Pro489Ser)
c.1135C>T (p.Pro379Ser)
c.1480C>T (p.Pro494Ser)
c.1717C>T (p.Pro573Ser)
c.1669C>T (p.Pro557Ser)
c.1528C>T (p.Pro510Ser)
c.1513C>T (p.Pro505Ser)
c.1372C>T (p.Pro458Ser)
c.1183C>T (p.Pro395Ser)
c.1168C>T (p.Pro390Ser)
c.673C>T (p.Pro225Ser)
c.484C>T (p.Pro162Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.86716561C>ACA377450858LDB3n.515-2166C>A
c.1277C>A (p.Pro426His)
c.1325C>A (p.Pro442His)
c.1466C>A (p.Pro489His)
c.1136C>A (p.Pro379His)
c.1481C>A (p.Pro494His)
c.1718C>A (p.Pro573His)
c.1670C>A (p.Pro557His)
c.1529C>A (p.Pro510His)
c.1514C>A (p.Pro505His)
c.1373C>A (p.Pro458His)
c.1184C>A (p.Pro395His)
c.1169C>A (p.Pro390His)
c.674C>A (p.Pro225His)
c.485C>A (p.Pro162His)
 gnomAD v4
10g.86716561C>GCA377450859LDB3n.515-2166C>G
c.1277C>G (p.Pro426Arg)
c.1325C>G (p.Pro442Arg)
c.1466C>G (p.Pro489Arg)
c.1136C>G (p.Pro379Arg)
c.1481C>G (p.Pro494Arg)
c.1718C>G (p.Pro573Arg)
c.1670C>G (p.Pro557Arg)
c.1529C>G (p.Pro510Arg)
c.1514C>G (p.Pro505Arg)
c.1373C>G (p.Pro458Arg)
c.1184C>G (p.Pro395Arg)
c.1169C>G (p.Pro390Arg)
c.674C>G (p.Pro225Arg)
c.485C>G (p.Pro162Arg)
 ClinVar
10g.86716561C>TCA377450860LDB3n.515-2166C>T
c.1277C>T (p.Pro426Leu)
c.1325C>T (p.Pro442Leu)
c.1466C>T (p.Pro489Leu)
c.1136C>T (p.Pro379Leu)
c.1481C>T (p.Pro494Leu)
c.1718C>T (p.Pro573Leu)
c.1670C>T (p.Pro557Leu)
c.1529C>T (p.Pro510Leu)
c.1514C>T (p.Pro505Leu)
c.1373C>T (p.Pro458Leu)
c.1184C>T (p.Pro395Leu)
c.1169C>T (p.Pro390Leu)
c.674C>T (p.Pro225Leu)
c.485C>T (p.Pro162Leu)
 gnomAD v4
10g.86716562C>ACA470375486LDB3n.515-2165C>A
c.1278C>A (p.Pro426=)
c.1326C>A (p.Pro442=)
c.1467C>A (p.Pro489=)
c.1137C>A (p.Pro379=)
c.1482C>A (p.Pro494=)
c.1719C>A (p.Pro573=)
c.1671C>A (p.Pro557=)
c.1530C>A (p.Pro510=)
c.1515C>A (p.Pro505=)
c.1374C>A (p.Pro458=)
c.1185C>A (p.Pro395=)
c.1170C>A (p.Pro390=)
c.675C>A (p.Pro225=)
c.486C>A (p.Pro162=)
 gnomAD v4
10g.86716562C=CA1925631937LDB3n.515-2165C=
c.1278C= (p.Pro426=)
c.1326C= (p.Pro442=)
c.1467C= (p.Pro489=)
c.1137C= (p.Pro379=)
c.1482C= (p.Pro494=)
c.1719C= (p.Pro573=)
c.1671C= (p.Pro557=)
c.1530C= (p.Pro510=)
c.1515C= (p.Pro505=)
c.1374C= (p.Pro458=)
c.1185C= (p.Pro395=)
c.1170C= (p.Pro390=)
c.675C= (p.Pro225=)
c.486C= (p.Pro162=)
10g.86716562C>GCA470375491LDB3n.515-2165C>G
c.1278C>G (p.Pro426=)
c.1326C>G (p.Pro442=)
c.1467C>G (p.Pro489=)
c.1137C>G (p.Pro379=)
c.1482C>G (p.Pro494=)
c.1719C>G (p.Pro573=)
c.1671C>G (p.Pro557=)
c.1530C>G (p.Pro510=)
c.1515C>G (p.Pro505=)
c.1374C>G (p.Pro458=)
c.1185C>G (p.Pro395=)
c.1170C>G (p.Pro390=)
c.675C>G (p.Pro225=)
c.486C>G (p.Pro162=)
10g.86716562C>TCA211205416LDB3n.515-2165C>T
c.1278C>T (p.Pro426=)
c.1326C>T (p.Pro442=)
c.1467C>T (p.Pro489=)
c.1137C>T (p.Pro379=)
c.1482C>T (p.Pro494=)
c.1719C>T (p.Pro573=)
c.1671C>T (p.Pro557=)
c.1530C>T (p.Pro510=)
c.1515C>T (p.Pro505=)
c.1374C>T (p.Pro458=)
c.1185C>T (p.Pro395=)
c.1170C>T (p.Pro390=)
c.675C>T (p.Pro225=)
c.486C>T (p.Pro162=)
 dbSNP
10g.86716563T>ACA377450862LDB3n.515-2164T>A
c.1279T>A (p.Trp427Arg)
c.1327T>A (p.Trp443Arg)
c.1468T>A (p.Trp490Arg)
c.1138T>A (p.Trp380Arg)
c.1483T>A (p.Trp495Arg)
c.1720T>A (p.Trp574Arg)
c.1672T>A (p.Trp558Arg)
c.1531T>A (p.Trp511Arg)
c.1516T>A (p.Trp506Arg)
c.1375T>A (p.Trp459Arg)
c.1186T>A (p.Trp396Arg)
c.1171T>A (p.Trp391Arg)
c.676T>A (p.Trp226Arg)
c.487T>A (p.Trp163Arg)
10g.86716563T>CCA377450864LDB3n.515-2164T>C
c.1279T>C (p.Trp427Arg)
c.1327T>C (p.Trp443Arg)
c.1468T>C (p.Trp490Arg)
c.1138T>C (p.Trp380Arg)
c.1483T>C (p.Trp495Arg)
c.1720T>C (p.Trp574Arg)
c.1672T>C (p.Trp558Arg)
c.1531T>C (p.Trp511Arg)
c.1516T>C (p.Trp506Arg)
c.1375T>C (p.Trp459Arg)
c.1186T>C (p.Trp396Arg)
c.1171T>C (p.Trp391Arg)
c.676T>C (p.Trp226Arg)
c.487T>C (p.Trp163Arg)
 ClinVar dbSNP gnomAD v4
10g.86716563T>GCA377450866LDB3n.515-2164T>G
c.1279T>G (p.Trp427Gly)
c.1327T>G (p.Trp443Gly)
c.1468T>G (p.Trp490Gly)
c.1138T>G (p.Trp380Gly)
c.1483T>G (p.Trp495Gly)
c.1720T>G (p.Trp574Gly)
c.1672T>G (p.Trp558Gly)
c.1531T>G (p.Trp511Gly)
c.1516T>G (p.Trp506Gly)
c.1375T>G (p.Trp459Gly)
c.1186T>G (p.Trp396Gly)
c.1171T>G (p.Trp391Gly)
c.676T>G (p.Trp226Gly)
c.487T>G (p.Trp163Gly)
 gnomAD v4
10g.86716563T=CA1925631938LDB3n.515-2164T=
c.1279T= (p.Trp427=)
c.1327T= (p.Trp443=)
c.1468T= (p.Trp490=)
c.1138T= (p.Trp380=)
c.1483T= (p.Trp495=)
c.1720T= (p.Trp574=)
c.1672T= (p.Trp558=)
c.1531T= (p.Trp511=)
c.1516T= (p.Trp506=)
c.1375T= (p.Trp459=)
c.1186T= (p.Trp396=)
c.1171T= (p.Trp391=)
c.676T= (p.Trp226=)
c.487T= (p.Trp163=)
10g.86716564G>ACA377450873LDB3n.515-2163G>A
c.1280G>A (p.Trp427Ter)
c.1328G>A (p.Trp443Ter)
c.1469G>A (p.Trp490Ter)
c.1139G>A (p.Trp380Ter)
c.1484G>A (p.Trp495Ter)
c.1721G>A (p.Trp574Ter)
c.1673G>A (p.Trp558Ter)
c.1532G>A (p.Trp511Ter)
c.1517G>A (p.Trp506Ter)
c.1376G>A (p.Trp459Ter)
c.1187G>A (p.Trp396Ter)
c.1172G>A (p.Trp391Ter)
c.677G>A (p.Trp226Ter)
c.488G>A (p.Trp163Ter)
 gnomAD v4
10g.86716564G>CCA377450869LDB3n.515-2163G>C
c.1280G>C (p.Trp427Ser)
c.1328G>C (p.Trp443Ser)
c.1469G>C (p.Trp490Ser)
c.1139G>C (p.Trp380Ser)
c.1484G>C (p.Trp495Ser)
c.1721G>C (p.Trp574Ser)
c.1673G>C (p.Trp558Ser)
c.1532G>C (p.Trp511Ser)
c.1517G>C (p.Trp506Ser)
c.1376G>C (p.Trp459Ser)
c.1187G>C (p.Trp396Ser)
c.1172G>C (p.Trp391Ser)
c.677G>C (p.Trp226Ser)
c.488G>C (p.Trp163Ser)
10g.86716564G>TCA377450871LDB3n.515-2163G>T
c.1280G>T (p.Trp427Leu)
c.1328G>T (p.Trp443Leu)
c.1469G>T (p.Trp490Leu)
c.1139G>T (p.Trp380Leu)
c.1484G>T (p.Trp495Leu)
c.1721G>T (p.Trp574Leu)
c.1673G>T (p.Trp558Leu)
c.1532G>T (p.Trp511Leu)
c.1517G>T (p.Trp506Leu)
c.1376G>T (p.Trp459Leu)
c.1187G>T (p.Trp396Leu)
c.1172G>T (p.Trp391Leu)
c.677G>T (p.Trp226Leu)
c.488G>T (p.Trp163Leu)
10g.86716565G>ACA377450883LDB3n.515-2162G>A
c.1281G>A (p.Trp427Ter)
c.1329G>A (p.Trp443Ter)
c.1470G>A (p.Trp490Ter)
c.1140G>A (p.Trp380Ter)
c.1485G>A (p.Trp495Ter)
c.1722G>A (p.Trp574Ter)
c.1674G>A (p.Trp558Ter)
c.1533G>A (p.Trp511Ter)
c.1518G>A (p.Trp506Ter)
c.1377G>A (p.Trp459Ter)
c.1188G>A (p.Trp396Ter)
c.1173G>A (p.Trp391Ter)
c.678G>A (p.Trp226Ter)
c.489G>A (p.Trp163Ter)
10g.86716565G>CCA377450886LDB3n.515-2162G>C
c.1281G>C (p.Trp427Cys)
c.1329G>C (p.Trp443Cys)
c.1470G>C (p.Trp490Cys)
c.1140G>C (p.Trp380Cys)
c.1485G>C (p.Trp495Cys)
c.1722G>C (p.Trp574Cys)
c.1674G>C (p.Trp558Cys)
c.1533G>C (p.Trp511Cys)
c.1518G>C (p.Trp506Cys)
c.1377G>C (p.Trp459Cys)
c.1188G>C (p.Trp396Cys)
c.1173G>C (p.Trp391Cys)
c.678G>C (p.Trp226Cys)
c.489G>C (p.Trp163Cys)
10g.86716565G>TCA377450888LDB3n.515-2162G>T
c.1281G>T (p.Trp427Cys)
c.1329G>T (p.Trp443Cys)
c.1470G>T (p.Trp490Cys)
c.1140G>T (p.Trp380Cys)
c.1485G>T (p.Trp495Cys)
c.1722G>T (p.Trp574Cys)
c.1674G>T (p.Trp558Cys)
c.1533G>T (p.Trp511Cys)
c.1518G>T (p.Trp506Cys)
c.1377G>T (p.Trp459Cys)
c.1188G>T (p.Trp396Cys)
c.1173G>T (p.Trp391Cys)
c.678G>T (p.Trp226Cys)
c.489G>T (p.Trp163Cys)
10g.86716566G>ACA5585167LDB3n.515-2161G>A
c.1282G>A (p.Val428Met)
c.1330G>A (p.Val444Met)
c.1471G>A (p.Val491Met)
c.1141G>A (p.Val381Met)
c.1486G>A (p.Val496Met)
c.1723G>A (p.Val575Met)
c.1675G>A (p.Val559Met)
c.1534G>A (p.Val512Met)
c.1519G>A (p.Val507Met)
c.1378G>A (p.Val460Met)
c.1189G>A (p.Val397Met)
c.1174G>A (p.Val392Met)
c.679G>A (p.Val227Met)
c.490G>A (p.Val164Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716566G>CCA377450892LDB3n.515-2161G>C
c.1282G>C (p.Val428Leu)
c.1330G>C (p.Val444Leu)
c.1471G>C (p.Val491Leu)
c.1141G>C (p.Val381Leu)
c.1486G>C (p.Val496Leu)
c.1723G>C (p.Val575Leu)
c.1675G>C (p.Val559Leu)
c.1534G>C (p.Val512Leu)
c.1519G>C (p.Val507Leu)
c.1378G>C (p.Val460Leu)
c.1189G>C (p.Val397Leu)
c.1174G>C (p.Val392Leu)
c.679G>C (p.Val227Leu)
c.490G>C (p.Val164Leu)
10g.86716566G=CA1925631939LDB3n.515-2161G=
c.1282G= (p.Val428=)
c.1330G= (p.Val444=)
c.1471G= (p.Val491=)
c.1141G= (p.Val381=)
c.1486G= (p.Val496=)
c.1723G= (p.Val575=)
c.1675G= (p.Val559=)
c.1534G= (p.Val512=)
c.1519G= (p.Val507=)
c.1378G= (p.Val460=)
c.1189G= (p.Val397=)
c.1174G= (p.Val392=)
c.679G= (p.Val227=)
c.490G= (p.Val164=)
10g.86716566G>TCA136523LDB3n.515-2161G>T
c.1282G>T (p.Val428Leu)
c.1330G>T (p.Val444Leu)
c.1471G>T (p.Val491Leu)
c.1141G>T (p.Val381Leu)
c.1486G>T (p.Val496Leu)
c.1723G>T (p.Val575Leu)
c.1675G>T (p.Val559Leu)
c.1534G>T (p.Val512Leu)
c.1519G>T (p.Val507Leu)
c.1378G>T (p.Val460Leu)
c.1189G>T (p.Val397Leu)
c.1174G>T (p.Val392Leu)
c.679G>T (p.Val227Leu)
c.490G>T (p.Val164Leu)
 ClinVar dbSNP
10g.86716567T>ACA136526LDB3n.515-2160T>A
c.1283T>A (p.Val428Glu)
c.1331T>A (p.Val444Glu)
c.1472T>A (p.Val491Glu)
c.1142T>A (p.Val381Glu)
c.1487T>A (p.Val496Glu)
c.1724T>A (p.Val575Glu)
c.1676T>A (p.Val559Glu)
c.1535T>A (p.Val512Glu)
c.1520T>A (p.Val507Glu)
c.1379T>A (p.Val460Glu)
c.1190T>A (p.Val397Glu)
c.1175T>A (p.Val392Glu)
c.680T>A (p.Val227Glu)
c.491T>A (p.Val164Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716567T>CCA377450894LDB3n.515-2160T>C
c.1283T>C (p.Val428Ala)
c.1331T>C (p.Val444Ala)
c.1472T>C (p.Val491Ala)
c.1142T>C (p.Val381Ala)
c.1487T>C (p.Val496Ala)
c.1724T>C (p.Val575Ala)
c.1676T>C (p.Val559Ala)
c.1535T>C (p.Val512Ala)
c.1520T>C (p.Val507Ala)
c.1379T>C (p.Val460Ala)
c.1190T>C (p.Val397Ala)
c.1175T>C (p.Val392Ala)
c.680T>C (p.Val227Ala)
c.491T>C (p.Val164Ala)
10g.86716567T>GCA377450903LDB3n.515-2160T>G
c.1283T>G (p.Val428Gly)
c.1331T>G (p.Val444Gly)
c.1472T>G (p.Val491Gly)
c.1142T>G (p.Val381Gly)
c.1487T>G (p.Val496Gly)
c.1724T>G (p.Val575Gly)
c.1676T>G (p.Val559Gly)
c.1535T>G (p.Val512Gly)
c.1520T>G (p.Val507Gly)
c.1379T>G (p.Val460Gly)
c.1190T>G (p.Val397Gly)
c.1175T>G (p.Val392Gly)
c.680T>G (p.Val227Gly)
c.491T>G (p.Val164Gly)
 dbSNP
10g.86716567T=CA1925631940LDB3n.515-2160T=
c.1283T= (p.Val428=)
c.1331T= (p.Val444=)
c.1472T= (p.Val491=)
c.1142T= (p.Val381=)
c.1487T= (p.Val496=)
c.1724T= (p.Val575=)
c.1676T= (p.Val559=)
c.1535T= (p.Val512=)
c.1520T= (p.Val507=)
c.1379T= (p.Val460=)
c.1190T= (p.Val397=)
c.1175T= (p.Val392=)
c.680T= (p.Val227=)
c.491T= (p.Val164=)
10g.86716568G>ACA470375522LDB3n.515-2159G>A
c.1284G>A (p.Val428=)
c.1332G>A (p.Val444=)
c.1473G>A (p.Val491=)
c.1143G>A (p.Val381=)
c.1488G>A (p.Val496=)
c.1725G>A (p.Val575=)
c.1677G>A (p.Val559=)
c.1536G>A (p.Val512=)
c.1521G>A (p.Val507=)
c.1380G>A (p.Val460=)
c.1191G>A (p.Val397=)
c.1176G>A (p.Val392=)
c.681G>A (p.Val227=)
c.492G>A (p.Val164=)
10g.86716568G>CCA470375524LDB3n.515-2159G>C
c.1284G>C (p.Val428=)
c.1332G>C (p.Val444=)
c.1473G>C (p.Val491=)
c.1143G>C (p.Val381=)
c.1488G>C (p.Val496=)
c.1725G>C (p.Val575=)
c.1677G>C (p.Val559=)
c.1536G>C (p.Val512=)
c.1521G>C (p.Val507=)
c.1380G>C (p.Val460=)
c.1191G>C (p.Val397=)
c.1176G>C (p.Val392=)
c.681G>C (p.Val227=)
c.492G>C (p.Val164=)
10g.86716568G>TCA470375529LDB3n.515-2159G>T
c.1284G>T (p.Val428=)
c.1332G>T (p.Val444=)
c.1473G>T (p.Val491=)
c.1143G>T (p.Val381=)
c.1488G>T (p.Val496=)
c.1725G>T (p.Val575=)
c.1677G>T (p.Val559=)
c.1536G>T (p.Val512=)
c.1521G>T (p.Val507=)
c.1380G>T (p.Val460=)
c.1191G>T (p.Val397=)
c.1176G>T (p.Val392=)
c.681G>T (p.Val227=)
c.492G>T (p.Val164=)
10g.86716569A>CCA377450906LDB3n.515-2158A>C
c.1285A>C (p.Thr429Pro)
c.1333A>C (p.Thr445Pro)
c.1474A>C (p.Thr492Pro)
c.1144A>C (p.Thr382Pro)
c.1489A>C (p.Thr497Pro)
c.1726A>C (p.Thr576Pro)
c.1678A>C (p.Thr560Pro)
c.1537A>C (p.Thr513Pro)
c.1522A>C (p.Thr508Pro)
c.1381A>C (p.Thr461Pro)
c.1192A>C (p.Thr398Pro)
c.1177A>C (p.Thr393Pro)
c.682A>C (p.Thr228Pro)
c.493A>C (p.Thr165Pro)
10g.86716569A>GCA377450907LDB3n.515-2158A>G
c.1285A>G (p.Thr429Ala)
c.1333A>G (p.Thr445Ala)
c.1474A>G (p.Thr492Ala)
c.1144A>G (p.Thr382Ala)
c.1489A>G (p.Thr497Ala)
c.1726A>G (p.Thr576Ala)
c.1678A>G (p.Thr560Ala)
c.1537A>G (p.Thr513Ala)
c.1522A>G (p.Thr508Ala)
c.1381A>G (p.Thr461Ala)
c.1192A>G (p.Thr398Ala)
c.1177A>G (p.Thr393Ala)
c.682A>G (p.Thr228Ala)
c.493A>G (p.Thr165Ala)
10g.86716569A>TCA377450913LDB3n.515-2158A>T
c.1285A>T (p.Thr429Ser)
c.1333A>T (p.Thr445Ser)
c.1474A>T (p.Thr492Ser)
c.1144A>T (p.Thr382Ser)
c.1489A>T (p.Thr497Ser)
c.1726A>T (p.Thr576Ser)
c.1678A>T (p.Thr560Ser)
c.1537A>T (p.Thr513Ser)
c.1522A>T (p.Thr508Ser)
c.1381A>T (p.Thr461Ser)
c.1192A>T (p.Thr398Ser)
c.1177A>T (p.Thr393Ser)
c.682A>T (p.Thr228Ser)
c.493A>T (p.Thr165Ser)
10g.86716570C>ACA377450919LDB3n.515-2157C>A
c.1286C>A (p.Thr429Lys)
c.1334C>A (p.Thr445Lys)
c.1475C>A (p.Thr492Lys)
c.1145C>A (p.Thr382Lys)
c.1490C>A (p.Thr497Lys)
c.1727C>A (p.Thr576Lys)
c.1679C>A (p.Thr560Lys)
c.1538C>A (p.Thr513Lys)
c.1523C>A (p.Thr508Lys)
c.1382C>A (p.Thr461Lys)
c.1193C>A (p.Thr398Lys)
c.1178C>A (p.Thr393Lys)
c.683C>A (p.Thr228Lys)
c.494C>A (p.Thr165Lys)
 ClinVar
10g.86716570C=CA1925631941LDB3n.515-2157C=
c.1286C= (p.Thr429=)
c.1334C= (p.Thr445=)
c.1475C= (p.Thr492=)
c.1145C= (p.Thr382=)
c.1490C= (p.Thr497=)
c.1727C= (p.Thr576=)
c.1679C= (p.Thr560=)
c.1538C= (p.Thr513=)
c.1523C= (p.Thr508=)
c.1382C= (p.Thr461=)
c.1193C= (p.Thr398=)
c.1178C= (p.Thr393=)
c.683C= (p.Thr228=)
c.494C= (p.Thr165=)
10g.86716570C>GCA377450918LDB3n.515-2157C>G
c.1286C>G (p.Thr429Arg)
c.1334C>G (p.Thr445Arg)
c.1475C>G (p.Thr492Arg)
c.1145C>G (p.Thr382Arg)
c.1490C>G (p.Thr497Arg)
c.1727C>G (p.Thr576Arg)
c.1679C>G (p.Thr560Arg)
c.1538C>G (p.Thr513Arg)
c.1523C>G (p.Thr508Arg)
c.1382C>G (p.Thr461Arg)
c.1193C>G (p.Thr398Arg)
c.1178C>G (p.Thr393Arg)
c.683C>G (p.Thr228Arg)
c.494C>G (p.Thr165Arg)
10g.86716570C>TCA136530LDB3n.515-2157C>T
c.1286C>T (p.Thr429Ile)
c.1334C>T (p.Thr445Ile)
c.1475C>T (p.Thr492Ile)
c.1145C>T (p.Thr382Ile)
c.1490C>T (p.Thr497Ile)
c.1727C>T (p.Thr576Ile)
c.1679C>T (p.Thr560Ile)
c.1538C>T (p.Thr513Ile)
c.1523C>T (p.Thr508Ile)
c.1382C>T (p.Thr461Ile)
c.1193C>T (p.Thr398Ile)
c.1178C>T (p.Thr393Ile)
c.683C>T (p.Thr228Ile)
c.494C>T (p.Thr165Ile)
 ClinVar dbSNP gnomAD v4
10g.86716571A>CCA470375544LDB3n.515-2156A>C
c.1287A>C (p.Thr429=)
c.1335A>C (p.Thr445=)
c.1476A>C (p.Thr492=)
c.1146A>C (p.Thr382=)
c.1491A>C (p.Thr497=)
c.1728A>C (p.Thr576=)
c.1680A>C (p.Thr560=)
c.1539A>C (p.Thr513=)
c.1524A>C (p.Thr508=)
c.1383A>C (p.Thr461=)
c.1194A>C (p.Thr398=)
c.1179A>C (p.Thr393=)
c.684A>C (p.Thr228=)
c.495A>C (p.Thr165=)
10g.86716571A>GCA470375547LDB3n.515-2156A>G
c.1287A>G (p.Thr429=)
c.1335A>G (p.Thr445=)
c.1476A>G (p.Thr492=)
c.1146A>G (p.Thr382=)
c.1491A>G (p.Thr497=)
c.1728A>G (p.Thr576=)
c.1680A>G (p.Thr560=)
c.1539A>G (p.Thr513=)
c.1524A>G (p.Thr508=)
c.1383A>G (p.Thr461=)
c.1194A>G (p.Thr398=)
c.1179A>G (p.Thr393=)
c.684A>G (p.Thr228=)
c.495A>G (p.Thr165=)
10g.86716571A>TCA470375550LDB3n.515-2156A>T
c.1287A>T (p.Thr429=)
c.1335A>T (p.Thr445=)
c.1476A>T (p.Thr492=)
c.1146A>T (p.Thr382=)
c.1491A>T (p.Thr497=)
c.1728A>T (p.Thr576=)
c.1680A>T (p.Thr560=)
c.1539A>T (p.Thr513=)
c.1524A>T (p.Thr508=)
c.1383A>T (p.Thr461=)
c.1194A>T (p.Thr398=)
c.1179A>T (p.Thr393=)
c.684A>T (p.Thr228=)
c.495A>T (p.Thr165=)
10g.86716572G>ACA377450923LDB3n.515-2155G>A
c.1288G>A (p.Asp430Asn)
c.1336G>A (p.Asp446Asn)
c.1477G>A (p.Asp493Asn)
c.1147G>A (p.Asp383Asn)
c.1492G>A (p.Asp498Asn)
c.1729G>A (p.Asp577Asn)
c.1681G>A (p.Asp561Asn)
c.1540G>A (p.Asp514Asn)
c.1525G>A (p.Asp509Asn)
c.1384G>A (p.Asp462Asn)
c.1195G>A (p.Asp399Asn)
c.1180G>A (p.Asp394Asn)
c.685G>A (p.Asp229Asn)
c.496G>A (p.Asp166Asn)
10g.86716572G>CCA377450921LDB3n.515-2155G>C
c.1288G>C (p.Asp430His)
c.1336G>C (p.Asp446His)
c.1477G>C (p.Asp493His)
c.1147G>C (p.Asp383His)
c.1492G>C (p.Asp498His)
c.1729G>C (p.Asp577His)
c.1681G>C (p.Asp561His)
c.1540G>C (p.Asp514His)
c.1525G>C (p.Asp509His)
c.1384G>C (p.Asp462His)
c.1195G>C (p.Asp399His)
c.1180G>C (p.Asp394His)
c.685G>C (p.Asp229His)
c.496G>C (p.Asp166His)
10g.86716572G>TCA377450924LDB3n.515-2155G>T
c.1288G>T (p.Asp430Tyr)
c.1336G>T (p.Asp446Tyr)
c.1477G>T (p.Asp493Tyr)
c.1147G>T (p.Asp383Tyr)
c.1492G>T (p.Asp498Tyr)
c.1729G>T (p.Asp577Tyr)
c.1681G>T (p.Asp561Tyr)
c.1540G>T (p.Asp514Tyr)
c.1525G>T (p.Asp509Tyr)
c.1384G>T (p.Asp462Tyr)
c.1195G>T (p.Asp399Tyr)
c.1180G>T (p.Asp394Tyr)
c.685G>T (p.Asp229Tyr)
c.496G>T (p.Asp166Tyr)
10g.86716573A=CA1925631942LDB3n.515-2154A=
c.1289A= (p.Asp430=)
c.1337A= (p.Asp446=)
c.1478A= (p.Asp493=)
c.1148A= (p.Asp383=)
c.1493A= (p.Asp498=)
c.1730A= (p.Asp577=)
c.1682A= (p.Asp561=)
c.1541A= (p.Asp514=)
c.1526A= (p.Asp509=)
c.1385A= (p.Asp462=)
c.1196A= (p.Asp399=)
c.1181A= (p.Asp394=)
c.686A= (p.Asp229=)
c.497A= (p.Asp166=)
10g.86716573A>CCA377450925LDB3n.515-2154A>C
c.1289A>C (p.Asp430Ala)
c.1337A>C (p.Asp446Ala)
c.1478A>C (p.Asp493Ala)
c.1148A>C (p.Asp383Ala)
c.1493A>C (p.Asp498Ala)
c.1730A>C (p.Asp577Ala)
c.1682A>C (p.Asp561Ala)
c.1541A>C (p.Asp514Ala)
c.1526A>C (p.Asp509Ala)
c.1385A>C (p.Asp462Ala)
c.1196A>C (p.Asp399Ala)
c.1181A>C (p.Asp394Ala)
c.686A>C (p.Asp229Ala)
c.497A>C (p.Asp166Ala)
10g.86716573A>GCA377450926LDB3n.515-2154A>G
c.1289A>G (p.Asp430Gly)
c.1337A>G (p.Asp446Gly)
c.1478A>G (p.Asp493Gly)
c.1148A>G (p.Asp383Gly)
c.1493A>G (p.Asp498Gly)
c.1730A>G (p.Asp577Gly)
c.1682A>G (p.Asp561Gly)
c.1541A>G (p.Asp514Gly)
c.1526A>G (p.Asp509Gly)
c.1385A>G (p.Asp462Gly)
c.1196A>G (p.Asp399Gly)
c.1181A>G (p.Asp394Gly)
c.686A>G (p.Asp229Gly)
c.497A>G (p.Asp166Gly)
 ClinVar dbSNP gnomAD v4
10g.86716573A>TCA377450927LDB3n.515-2154A>T
c.1289A>T (p.Asp430Val)
c.1337A>T (p.Asp446Val)
c.1478A>T (p.Asp493Val)
c.1148A>T (p.Asp383Val)
c.1493A>T (p.Asp498Val)
c.1730A>T (p.Asp577Val)
c.1682A>T (p.Asp561Val)
c.1541A>T (p.Asp514Val)
c.1526A>T (p.Asp509Val)
c.1385A>T (p.Asp462Val)
c.1196A>T (p.Asp399Val)
c.1181A>T (p.Asp394Val)
c.686A>T (p.Asp229Val)
c.497A>T (p.Asp166Val)
 gnomAD v4
10g.86716574T>ACA377450930LDB3n.515-2153T>A
c.1290T>A (p.Asp430Glu)
c.1338T>A (p.Asp446Glu)
c.1479T>A (p.Asp493Glu)
c.1149T>A (p.Asp383Glu)
c.1494T>A (p.Asp498Glu)
c.1731T>A (p.Asp577Glu)
c.1683T>A (p.Asp561Glu)
c.1542T>A (p.Asp514Glu)
c.1527T>A (p.Asp509Glu)
c.1386T>A (p.Asp462Glu)
c.1197T>A (p.Asp399Glu)
c.1182T>A (p.Asp394Glu)
c.687T>A (p.Asp229Glu)
c.498T>A (p.Asp166Glu)
10g.86716574T>CCA470375566LDB3n.515-2153T>C
c.1290T>C (p.Asp430=)
c.1338T>C (p.Asp446=)
c.1479T>C (p.Asp493=)
c.1149T>C (p.Asp383=)
c.1494T>C (p.Asp498=)
c.1731T>C (p.Asp577=)
c.1683T>C (p.Asp561=)
c.1542T>C (p.Asp514=)
c.1527T>C (p.Asp509=)
c.1386T>C (p.Asp462=)
c.1197T>C (p.Asp399=)
c.1182T>C (p.Asp394=)
c.687T>C (p.Asp229=)
c.498T>C (p.Asp166=)
 dbSNP gnomAD v2 gnomAD v4
10g.86716574T>GCA377450933LDB3n.515-2153T>G
c.1290T>G (p.Asp430Glu)
c.1338T>G (p.Asp446Glu)
c.1479T>G (p.Asp493Glu)
c.1149T>G (p.Asp383Glu)
c.1494T>G (p.Asp498Glu)
c.1731T>G (p.Asp577Glu)
c.1683T>G (p.Asp561Glu)
c.1542T>G (p.Asp514Glu)
c.1527T>G (p.Asp509Glu)
c.1386T>G (p.Asp462Glu)
c.1197T>G (p.Asp399Glu)
c.1182T>G (p.Asp394Glu)
c.687T>G (p.Asp229Glu)
c.498T>G (p.Asp166Glu)
 dbSNP gnomAD v3 gnomAD v4
10g.86716574T=CA1925631943LDB3n.515-2153T=
c.1290T= (p.Asp430=)
c.1338T= (p.Asp446=)
c.1479T= (p.Asp493=)
c.1149T= (p.Asp383=)
c.1494T= (p.Asp498=)
c.1731T= (p.Asp577=)
c.1683T= (p.Asp561=)
c.1542T= (p.Asp514=)
c.1527T= (p.Asp509=)
c.1386T= (p.Asp462=)
c.1197T= (p.Asp399=)
c.1182T= (p.Asp394=)
c.687T= (p.Asp229=)
c.498T= (p.Asp166=)
10g.86716575G>ACA5585168LDB3n.515-2152G>A
c.1291G>A (p.Asp431Asn)
c.1339G>A (p.Asp447Asn)
c.1480G>A (p.Asp494Asn)
c.1150G>A (p.Asp384Asn)
c.1495G>A (p.Asp499Asn)
c.1732G>A (p.Asp578Asn)
c.1684G>A (p.Asp562Asn)
c.1543G>A (p.Asp515Asn)
c.1528G>A (p.Asp510Asn)
c.1387G>A (p.Asp463Asn)
c.1198G>A (p.Asp400Asn)
c.1183G>A (p.Asp395Asn)
c.688G>A (p.Asp230Asn)
c.499G>A (p.Asp167Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716575G>CCA377450935LDB3n.515-2152G>C
c.1291G>C (p.Asp431His)
c.1339G>C (p.Asp447His)
c.1480G>C (p.Asp494His)
c.1150G>C (p.Asp384His)
c.1495G>C (p.Asp499His)
c.1732G>C (p.Asp578His)
c.1684G>C (p.Asp562His)
c.1543G>C (p.Asp515His)
c.1528G>C (p.Asp510His)
c.1387G>C (p.Asp463His)
c.1198G>C (p.Asp400His)
c.1183G>C (p.Asp395His)
c.688G>C (p.Asp230His)
c.499G>C (p.Asp167His)
10g.86716575G=CA1925631944LDB3n.515-2152G=
c.1291G= (p.Asp431=)
c.1339G= (p.Asp447=)
c.1480G= (p.Asp494=)
c.1150G= (p.Asp384=)
c.1495G= (p.Asp499=)
c.1732G= (p.Asp578=)
c.1684G= (p.Asp562=)
c.1543G= (p.Asp515=)
c.1528G= (p.Asp510=)
c.1387G= (p.Asp463=)
c.1198G= (p.Asp400=)
c.1183G= (p.Asp395=)
c.688G= (p.Asp230=)
c.499G= (p.Asp167=)
10g.86716575G>TCA377450937LDB3n.515-2152G>T
c.1291G>T (p.Asp431Tyr)
c.1339G>T (p.Asp447Tyr)
c.1480G>T (p.Asp494Tyr)
c.1150G>T (p.Asp384Tyr)
c.1495G>T (p.Asp499Tyr)
c.1732G>T (p.Asp578Tyr)
c.1684G>T (p.Asp562Tyr)
c.1543G>T (p.Asp515Tyr)
c.1528G>T (p.Asp510Tyr)
c.1387G>T (p.Asp463Tyr)
c.1198G>T (p.Asp400Tyr)
c.1183G>T (p.Asp395Tyr)
c.688G>T (p.Asp230Tyr)
c.499G>T (p.Asp167Tyr)
10g.86716576A>CCA377450939LDB3n.515-2151A>C
c.1292A>C (p.Asp431Ala)
c.1340A>C (p.Asp447Ala)
c.1481A>C (p.Asp494Ala)
c.1151A>C (p.Asp384Ala)
c.1496A>C (p.Asp499Ala)
c.1733A>C (p.Asp578Ala)
c.1685A>C (p.Asp562Ala)
c.1544A>C (p.Asp515Ala)
c.1529A>C (p.Asp510Ala)
c.1388A>C (p.Asp463Ala)
c.1199A>C (p.Asp400Ala)
c.1184A>C (p.Asp395Ala)
c.689A>C (p.Asp230Ala)
c.500A>C (p.Asp167Ala)
10g.86716576A>GCA377450941LDB3n.515-2151A>G
c.1292A>G (p.Asp431Gly)
c.1340A>G (p.Asp447Gly)
c.1481A>G (p.Asp494Gly)
c.1151A>G (p.Asp384Gly)
c.1496A>G (p.Asp499Gly)
c.1733A>G (p.Asp578Gly)
c.1685A>G (p.Asp562Gly)
c.1544A>G (p.Asp515Gly)
c.1529A>G (p.Asp510Gly)
c.1388A>G (p.Asp463Gly)
c.1199A>G (p.Asp400Gly)
c.1184A>G (p.Asp395Gly)
c.689A>G (p.Asp230Gly)
c.500A>G (p.Asp167Gly)
10g.86716576A>TCA377450942LDB3n.515-2151A>T
c.1292A>T (p.Asp431Val)
c.1340A>T (p.Asp447Val)
c.1481A>T (p.Asp494Val)
c.1151A>T (p.Asp384Val)
c.1496A>T (p.Asp499Val)
c.1733A>T (p.Asp578Val)
c.1685A>T (p.Asp562Val)
c.1544A>T (p.Asp515Val)
c.1529A>T (p.Asp510Val)
c.1388A>T (p.Asp463Val)
c.1199A>T (p.Asp400Val)
c.1184A>T (p.Asp395Val)
c.689A>T (p.Asp230Val)
c.500A>T (p.Asp167Val)
10g.86716577T>ACA377450944LDB3n.515-2150T>A
c.1293T>A (p.Asp431Glu)
c.1341T>A (p.Asp447Glu)
c.1482T>A (p.Asp494Glu)
c.1152T>A (p.Asp384Glu)
c.1497T>A (p.Asp499Glu)
c.1734T>A (p.Asp578Glu)
c.1686T>A (p.Asp562Glu)
c.1545T>A (p.Asp515Glu)
c.1530T>A (p.Asp510Glu)
c.1389T>A (p.Asp463Glu)
c.1200T>A (p.Asp400Glu)
c.1185T>A (p.Asp395Glu)
c.690T>A (p.Asp230Glu)
c.501T>A (p.Asp167Glu)
10g.86716577T>CCA470375581LDB3n.515-2150T>C
c.1293T>C (p.Asp431=)
c.1341T>C (p.Asp447=)
c.1482T>C (p.Asp494=)
c.1152T>C (p.Asp384=)
c.1497T>C (p.Asp499=)
c.1734T>C (p.Asp578=)
c.1686T>C (p.Asp562=)
c.1545T>C (p.Asp515=)
c.1530T>C (p.Asp510=)
c.1389T>C (p.Asp463=)
c.1200T>C (p.Asp400=)
c.1185T>C (p.Asp395=)
c.690T>C (p.Asp230=)
c.501T>C (p.Asp167=)
 dbSNP
10g.86716577T>GCA377450947LDB3n.515-2150T>G
c.1293T>G (p.Asp431Glu)
c.1341T>G (p.Asp447Glu)
c.1482T>G (p.Asp494Glu)
c.1152T>G (p.Asp384Glu)
c.1497T>G (p.Asp499Glu)
c.1734T>G (p.Asp578Glu)
c.1686T>G (p.Asp562Glu)
c.1545T>G (p.Asp515Glu)
c.1530T>G (p.Asp510Glu)
c.1389T>G (p.Asp463Glu)
c.1200T>G (p.Asp400Glu)
c.1185T>G (p.Asp395Glu)
c.690T>G (p.Asp230Glu)
c.501T>G (p.Asp167Glu)
10g.86716578A>CCA377450948LDB3n.515-2149A>C
c.1294A>C (p.Ser432Arg)
c.1342A>C (p.Ser448Arg)
c.1483A>C (p.Ser495Arg)
c.1153A>C (p.Ser385Arg)
c.1498A>C (p.Ser500Arg)
c.1735A>C (p.Ser579Arg)
c.1687A>C (p.Ser563Arg)
c.1546A>C (p.Ser516Arg)
c.1531A>C (p.Ser511Arg)
c.1390A>C (p.Ser464Arg)
c.1201A>C (p.Ser401Arg)
c.1186A>C (p.Ser396Arg)
c.691A>C (p.Ser231Arg)
c.502A>C (p.Ser168Arg)
10g.86716578A>GCA377450952LDB3n.515-2149A>G
c.1294A>G (p.Ser432Gly)
c.1342A>G (p.Ser448Gly)
c.1483A>G (p.Ser495Gly)
c.1153A>G (p.Ser385Gly)
c.1498A>G (p.Ser500Gly)
c.1735A>G (p.Ser579Gly)
c.1687A>G (p.Ser563Gly)
c.1546A>G (p.Ser516Gly)
c.1531A>G (p.Ser511Gly)
c.1390A>G (p.Ser464Gly)
c.1201A>G (p.Ser401Gly)
c.1186A>G (p.Ser396Gly)
c.691A>G (p.Ser231Gly)
c.502A>G (p.Ser168Gly)
 ClinVar dbSNP gnomAD v4
10g.86716578A>TCA377450950LDB3n.515-2149A>T
c.1294A>T (p.Ser432Cys)
c.1342A>T (p.Ser448Cys)
c.1483A>T (p.Ser495Cys)
c.1153A>T (p.Ser385Cys)
c.1498A>T (p.Ser500Cys)
c.1735A>T (p.Ser579Cys)
c.1687A>T (p.Ser563Cys)
c.1546A>T (p.Ser516Cys)
c.1531A>T (p.Ser511Cys)
c.1390A>T (p.Ser464Cys)
c.1201A>T (p.Ser401Cys)
c.1186A>T (p.Ser396Cys)
c.691A>T (p.Ser231Cys)
c.502A>T (p.Ser168Cys)
10g.86716579G>ACA377450953LDB3n.515-2148G>A
c.1295G>A (p.Ser432Asn)
c.1343G>A (p.Ser448Asn)
c.1484G>A (p.Ser495Asn)
c.1154G>A (p.Ser385Asn)
c.1499G>A (p.Ser500Asn)
c.1736G>A (p.Ser579Asn)
c.1688G>A (p.Ser563Asn)
c.1547G>A (p.Ser516Asn)
c.1532G>A (p.Ser511Asn)
c.1391G>A (p.Ser464Asn)
c.1202G>A (p.Ser401Asn)
c.1187G>A (p.Ser396Asn)
c.692G>A (p.Ser231Asn)
c.503G>A (p.Ser168Asn)
 gnomAD v4
10g.86716579G>CCA377450955LDB3n.515-2148G>C
c.1295G>C (p.Ser432Thr)
c.1343G>C (p.Ser448Thr)
c.1484G>C (p.Ser495Thr)
c.1154G>C (p.Ser385Thr)
c.1499G>C (p.Ser500Thr)
c.1736G>C (p.Ser579Thr)
c.1688G>C (p.Ser563Thr)
c.1547G>C (p.Ser516Thr)
c.1532G>C (p.Ser511Thr)
c.1391G>C (p.Ser464Thr)
c.1202G>C (p.Ser401Thr)
c.1187G>C (p.Ser396Thr)
c.692G>C (p.Ser231Thr)
c.503G>C (p.Ser168Thr)
 dbSNP
10g.86716579G=CA1925631945LDB3n.515-2148G=
c.1295G= (p.Ser432=)
c.1343G= (p.Ser448=)
c.1484G= (p.Ser495=)
c.1154G= (p.Ser385=)
c.1499G= (p.Ser500=)
c.1736G= (p.Ser579=)
c.1688G= (p.Ser563=)
c.1547G= (p.Ser516=)
c.1532G= (p.Ser511=)
c.1391G= (p.Ser464=)
c.1202G= (p.Ser401=)
c.1187G= (p.Ser396=)
c.692G= (p.Ser231=)
c.503G= (p.Ser168=)
10g.86716579G>TCA377450956LDB3n.515-2148G>T
c.1295G>T (p.Ser432Ile)
c.1343G>T (p.Ser448Ile)
c.1484G>T (p.Ser495Ile)
c.1154G>T (p.Ser385Ile)
c.1499G>T (p.Ser500Ile)
c.1736G>T (p.Ser579Ile)
c.1688G>T (p.Ser563Ile)
c.1547G>T (p.Ser516Ile)
c.1532G>T (p.Ser511Ile)
c.1391G>T (p.Ser464Ile)
c.1202G>T (p.Ser401Ile)
c.1187G>T (p.Ser396Ile)
c.692G>T (p.Ser231Ile)
c.503G>T (p.Ser168Ile)
10g.86716580C>ACA377450959LDB3n.515-2147C>A
c.1296C>A (p.Ser432Arg)
c.1344C>A (p.Ser448Arg)
c.1485C>A (p.Ser495Arg)
c.1155C>A (p.Ser385Arg)
c.1500C>A (p.Ser500Arg)
c.1737C>A (p.Ser579Arg)
c.1689C>A (p.Ser563Arg)
c.1548C>A (p.Ser516Arg)
c.1533C>A (p.Ser511Arg)
c.1392C>A (p.Ser464Arg)
c.1203C>A (p.Ser401Arg)
c.1188C>A (p.Ser396Arg)
c.693C>A (p.Ser231Arg)
c.504C>A (p.Ser168Arg)
10g.86716580C>GCA377450962LDB3n.515-2147C>G
c.1296C>G (p.Ser432Arg)
c.1344C>G (p.Ser448Arg)
c.1485C>G (p.Ser495Arg)
c.1155C>G (p.Ser385Arg)
c.1500C>G (p.Ser500Arg)
c.1737C>G (p.Ser579Arg)
c.1689C>G (p.Ser563Arg)
c.1548C>G (p.Ser516Arg)
c.1533C>G (p.Ser511Arg)
c.1392C>G (p.Ser464Arg)
c.1203C>G (p.Ser401Arg)
c.1188C>G (p.Ser396Arg)
c.693C>G (p.Ser231Arg)
c.504C>G (p.Ser168Arg)
10g.86716580C>TCA470375598LDB3n.515-2147C>T
c.1296C>T (p.Ser432=)
c.1344C>T (p.Ser448=)
c.1485C>T (p.Ser495=)
c.1155C>T (p.Ser385=)
c.1500C>T (p.Ser500=)
c.1737C>T (p.Ser579=)
c.1689C>T (p.Ser563=)
c.1548C>T (p.Ser516=)
c.1533C>T (p.Ser511=)
c.1392C>T (p.Ser464=)
c.1203C>T (p.Ser401=)
c.1188C>T (p.Ser396=)
c.693C>T (p.Ser231=)
c.504C>T (p.Ser168=)
10g.86716581T>ACA377450965LDB3n.515-2146T>A
c.1297T>A (p.Phe433Ile)
c.1345T>A (p.Phe449Ile)
c.1486T>A (p.Phe496Ile)
c.1156T>A (p.Phe386Ile)
c.1501T>A (p.Phe501Ile)
c.1738T>A (p.Phe580Ile)
c.1690T>A (p.Phe564Ile)
c.1549T>A (p.Phe517Ile)
c.1534T>A (p.Phe512Ile)
c.1393T>A (p.Phe465Ile)
c.1204T>A (p.Phe402Ile)
c.1189T>A (p.Phe397Ile)
c.694T>A (p.Phe232Ile)
c.505T>A (p.Phe169Ile)
10g.86716581T>CCA377450968LDB3n.515-2146T>C
c.1297T>C (p.Phe433Leu)
c.1345T>C (p.Phe449Leu)
c.1486T>C (p.Phe496Leu)
c.1156T>C (p.Phe386Leu)
c.1501T>C (p.Phe501Leu)
c.1738T>C (p.Phe580Leu)
c.1690T>C (p.Phe564Leu)
c.1549T>C (p.Phe517Leu)
c.1534T>C (p.Phe512Leu)
c.1393T>C (p.Phe465Leu)
c.1204T>C (p.Phe402Leu)
c.1189T>C (p.Phe397Leu)
c.694T>C (p.Phe232Leu)
c.505T>C (p.Phe169Leu)
10g.86716581T>GCA5585169LDB3n.515-2146T>G
c.1297T>G (p.Phe433Val)
c.1345T>G (p.Phe449Val)
c.1486T>G (p.Phe496Val)
c.1156T>G (p.Phe386Val)
c.1501T>G (p.Phe501Val)
c.1738T>G (p.Phe580Val)
c.1690T>G (p.Phe564Val)
c.1549T>G (p.Phe517Val)
c.1534T>G (p.Phe512Val)
c.1393T>G (p.Phe465Val)
c.1204T>G (p.Phe402Val)
c.1189T>G (p.Phe397Val)
c.694T>G (p.Phe232Val)
c.505T>G (p.Phe169Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716581T=CA1925631946LDB3n.515-2146T=
c.1297T= (p.Phe433=)
c.1345T= (p.Phe449=)
c.1486T= (p.Phe496=)
c.1156T= (p.Phe386=)
c.1501T= (p.Phe501=)
c.1738T= (p.Phe580=)
c.1690T= (p.Phe564=)
c.1549T= (p.Phe517=)
c.1534T= (p.Phe512=)
c.1393T= (p.Phe465=)
c.1204T= (p.Phe402=)
c.1189T= (p.Phe397=)
c.694T= (p.Phe232=)
c.505T= (p.Phe169=)
10g.86716582T>ACA377450973LDB3n.515-2145T>A
c.1298T>A (p.Phe433Tyr)
c.1346T>A (p.Phe449Tyr)
c.1487T>A (p.Phe496Tyr)
c.1157T>A (p.Phe386Tyr)
c.1502T>A (p.Phe501Tyr)
c.1739T>A (p.Phe580Tyr)
c.1691T>A (p.Phe564Tyr)
c.1550T>A (p.Phe517Tyr)
c.1535T>A (p.Phe512Tyr)
c.1394T>A (p.Phe465Tyr)
c.1205T>A (p.Phe402Tyr)
c.1190T>A (p.Phe397Tyr)
c.695T>A (p.Phe232Tyr)
c.506T>A (p.Phe169Tyr)
10g.86716582T>CCA308633LDB3n.515-2145T>C
c.1298T>C (p.Phe433Ser)
c.1346T>C (p.Phe449Ser)
c.1487T>C (p.Phe496Ser)
c.1157T>C (p.Phe386Ser)
c.1502T>C (p.Phe501Ser)
c.1739T>C (p.Phe580Ser)
c.1691T>C (p.Phe564Ser)
c.1550T>C (p.Phe517Ser)
c.1535T>C (p.Phe512Ser)
c.1394T>C (p.Phe465Ser)
c.1205T>C (p.Phe402Ser)
c.1190T>C (p.Phe397Ser)
c.695T>C (p.Phe232Ser)
c.506T>C (p.Phe169Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716582T>GCA377450976LDB3n.515-2145T>G
c.1298T>G (p.Phe433Cys)
c.1346T>G (p.Phe449Cys)
c.1487T>G (p.Phe496Cys)
c.1157T>G (p.Phe386Cys)
c.1502T>G (p.Phe501Cys)
c.1739T>G (p.Phe580Cys)
c.1691T>G (p.Phe564Cys)
c.1550T>G (p.Phe517Cys)
c.1535T>G (p.Phe512Cys)
c.1394T>G (p.Phe465Cys)
c.1205T>G (p.Phe402Cys)
c.1190T>G (p.Phe397Cys)
c.695T>G (p.Phe232Cys)
c.506T>G (p.Phe169Cys)
10g.86716582T=CA1925631947LDB3n.515-2145T=
c.1298T= (p.Phe433=)
c.1346T= (p.Phe449=)
c.1487T= (p.Phe496=)
c.1157T= (p.Phe386=)
c.1502T= (p.Phe501=)
c.1739T= (p.Phe580=)
c.1691T= (p.Phe564=)
c.1550T= (p.Phe517=)
c.1535T= (p.Phe512=)
c.1394T= (p.Phe465=)
c.1205T= (p.Phe402=)
c.1190T= (p.Phe397=)
c.695T= (p.Phe232=)
c.506T= (p.Phe169=)
10g.86716583C>ACA377450981LDB3n.515-2144C>A
c.1299C>A (p.Phe433Leu)
c.1347C>A (p.Phe449Leu)
c.1488C>A (p.Phe496Leu)
c.1158C>A (p.Phe386Leu)
c.1503C>A (p.Phe501Leu)
c.1740C>A (p.Phe580Leu)
c.1692C>A (p.Phe564Leu)
c.1551C>A (p.Phe517Leu)
c.1536C>A (p.Phe512Leu)
c.1395C>A (p.Phe465Leu)
c.1206C>A (p.Phe402Leu)
c.1191C>A (p.Phe397Leu)
c.696C>A (p.Phe232Leu)
c.507C>A (p.Phe169Leu)
10g.86716583C>GCA377450979LDB3n.515-2144C>G
c.1299C>G (p.Phe433Leu)
c.1347C>G (p.Phe449Leu)
c.1488C>G (p.Phe496Leu)
c.1158C>G (p.Phe386Leu)
c.1503C>G (p.Phe501Leu)
c.1740C>G (p.Phe580Leu)
c.1692C>G (p.Phe564Leu)
c.1551C>G (p.Phe517Leu)
c.1536C>G (p.Phe512Leu)
c.1395C>G (p.Phe465Leu)
c.1206C>G (p.Phe402Leu)
c.1191C>G (p.Phe397Leu)
c.696C>G (p.Phe232Leu)
c.507C>G (p.Phe169Leu)
10g.86716583C>TCA470375616LDB3n.515-2144C>T
c.1299C>T (p.Phe433=)
c.1347C>T (p.Phe449=)
c.1488C>T (p.Phe496=)
c.1158C>T (p.Phe386=)
c.1503C>T (p.Phe501=)
c.1740C>T (p.Phe580=)
c.1692C>T (p.Phe564=)
c.1551C>T (p.Phe517=)
c.1536C>T (p.Phe512=)
c.1395C>T (p.Phe465=)
c.1206C>T (p.Phe402=)
c.1191C>T (p.Phe397=)
c.696C>T (p.Phe232=)
c.507C>T (p.Phe169=)
10g.86716584T>ACA377450984LDB3n.515-2143T>A
c.1300T>A (p.Ser434Thr)
c.1348T>A (p.Ser450Thr)
c.1489T>A (p.Ser497Thr)
c.1159T>A (p.Ser387Thr)
c.1504T>A (p.Ser502Thr)
c.1741T>A (p.Ser581Thr)
c.1693T>A (p.Ser565Thr)
c.1552T>A (p.Ser518Thr)
c.1537T>A (p.Ser513Thr)
c.1396T>A (p.Ser466Thr)
c.1207T>A (p.Ser403Thr)
c.1192T>A (p.Ser398Thr)
c.697T>A (p.Ser233Thr)
c.508T>A (p.Ser170Thr)
10g.86716584T>CCA377450990LDB3n.515-2143T>C
c.1300T>C (p.Ser434Pro)
c.1348T>C (p.Ser450Pro)
c.1489T>C (p.Ser497Pro)
c.1159T>C (p.Ser387Pro)
c.1504T>C (p.Ser502Pro)
c.1741T>C (p.Ser581Pro)
c.1693T>C (p.Ser565Pro)
c.1552T>C (p.Ser518Pro)
c.1537T>C (p.Ser513Pro)
c.1396T>C (p.Ser466Pro)
c.1207T>C (p.Ser403Pro)
c.1192T>C (p.Ser398Pro)
c.697T>C (p.Ser233Pro)
c.508T>C (p.Ser170Pro)
10g.86716584T>GCA377450987LDB3n.515-2143T>G
c.1300T>G (p.Ser434Ala)
c.1348T>G (p.Ser450Ala)
c.1489T>G (p.Ser497Ala)
c.1159T>G (p.Ser387Ala)
c.1504T>G (p.Ser502Ala)
c.1741T>G (p.Ser581Ala)
c.1693T>G (p.Ser565Ala)
c.1552T>G (p.Ser518Ala)
c.1537T>G (p.Ser513Ala)
c.1396T>G (p.Ser466Ala)
c.1207T>G (p.Ser403Ala)
c.1192T>G (p.Ser398Ala)
c.697T>G (p.Ser233Ala)
c.508T>G (p.Ser170Ala)
10g.86716585C>ACA377450992LDB3n.515-2142C>A
c.1301C>A (p.Ser434Tyr)
c.1349C>A (p.Ser450Tyr)
c.1490C>A (p.Ser497Tyr)
c.1160C>A (p.Ser387Tyr)
c.1505C>A (p.Ser502Tyr)
c.1742C>A (p.Ser581Tyr)
c.1694C>A (p.Ser565Tyr)
c.1553C>A (p.Ser518Tyr)
c.1538C>A (p.Ser513Tyr)
c.1397C>A (p.Ser466Tyr)
c.1208C>A (p.Ser403Tyr)
c.1193C>A (p.Ser398Tyr)
c.698C>A (p.Ser233Tyr)
c.509C>A (p.Ser170Tyr)
10g.86716585C=CA1925631948LDB3n.515-2142C=
c.1301C= (p.Ser434=)
c.1349C= (p.Ser450=)
c.1490C= (p.Ser497=)
c.1160C= (p.Ser387=)
c.1505C= (p.Ser502=)
c.1742C= (p.Ser581=)
c.1694C= (p.Ser565=)
c.1553C= (p.Ser518=)
c.1538C= (p.Ser513=)
c.1397C= (p.Ser466=)
c.1208C= (p.Ser403=)
c.1193C= (p.Ser398=)
c.698C= (p.Ser233=)
c.509C= (p.Ser170=)
10g.86716585C>GCA377450993LDB3n.515-2142C>G
c.1301C>G (p.Ser434Cys)
c.1349C>G (p.Ser450Cys)
c.1490C>G (p.Ser497Cys)
c.1160C>G (p.Ser387Cys)
c.1505C>G (p.Ser502Cys)
c.1742C>G (p.Ser581Cys)
c.1694C>G (p.Ser565Cys)
c.1553C>G (p.Ser518Cys)
c.1538C>G (p.Ser513Cys)
c.1397C>G (p.Ser466Cys)
c.1208C>G (p.Ser403Cys)
c.1193C>G (p.Ser398Cys)
c.698C>G (p.Ser233Cys)
c.509C>G (p.Ser170Cys)
10g.86716585C>TCA377450996LDB3n.515-2142C>T
c.1301C>T (p.Ser434Phe)
c.1349C>T (p.Ser450Phe)
c.1490C>T (p.Ser497Phe)
c.1160C>T (p.Ser387Phe)
c.1505C>T (p.Ser502Phe)
c.1742C>T (p.Ser581Phe)
c.1694C>T (p.Ser565Phe)
c.1553C>T (p.Ser518Phe)
c.1538C>T (p.Ser513Phe)
c.1397C>T (p.Ser466Phe)
c.1208C>T (p.Ser403Phe)
c.1193C>T (p.Ser398Phe)
c.698C>T (p.Ser233Phe)
c.509C>T (p.Ser170Phe)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
10g.86716586C>ACA470375630LDB3n.515-2141C>A
c.1302C>A (p.Ser434=)
c.1350C>A (p.Ser450=)
c.1491C>A (p.Ser497=)
c.1161C>A (p.Ser387=)
c.1506C>A (p.Ser502=)
c.1743C>A (p.Ser581=)
c.1695C>A (p.Ser565=)
c.1554C>A (p.Ser518=)
c.1539C>A (p.Ser513=)
c.1398C>A (p.Ser466=)
c.1209C>A (p.Ser403=)
c.1194C>A (p.Ser398=)
c.699C>A (p.Ser233=)
c.510C>A (p.Ser170=)
10g.86716586C>GCA470375633LDB3n.515-2141C>G
c.1302C>G (p.Ser434=)
c.1350C>G (p.Ser450=)
c.1491C>G (p.Ser497=)
c.1161C>G (p.Ser387=)
c.1506C>G (p.Ser502=)
c.1743C>G (p.Ser581=)
c.1695C>G (p.Ser565=)
c.1554C>G (p.Ser518=)
c.1539C>G (p.Ser513=)
c.1398C>G (p.Ser466=)
c.1209C>G (p.Ser403=)
c.1194C>G (p.Ser398=)
c.699C>G (p.Ser233=)
c.510C>G (p.Ser170=)
10g.86716586C>TCA470375635LDB3n.515-2141C>T
c.1302C>T (p.Ser434=)
c.1350C>T (p.Ser450=)
c.1491C>T (p.Ser497=)
c.1161C>T (p.Ser387=)
c.1506C>T (p.Ser502=)
c.1743C>T (p.Ser581=)
c.1695C>T (p.Ser565=)
c.1554C>T (p.Ser518=)
c.1539C>T (p.Ser513=)
c.1398C>T (p.Ser466=)
c.1209C>T (p.Ser403=)
c.1194C>T (p.Ser398=)
c.699C>T (p.Ser233=)
c.510C>T (p.Ser170=)
10g.86716587C>ACA377450998LDB3n.515-2140C>A
c.1303C>A (p.Gln435Lys)
c.1351C>A (p.Gln451Lys)
c.1492C>A (p.Gln498Lys)
c.1162C>A (p.Gln388Lys)
c.1507C>A (p.Gln503Lys)
c.1744C>A (p.Gln582Lys)
c.1696C>A (p.Gln566Lys)
c.1555C>A (p.Gln519Lys)
c.1540C>A (p.Gln514Lys)
c.1399C>A (p.Gln467Lys)
c.1210C>A (p.Gln404Lys)
c.1195C>A (p.Gln399Lys)
c.700C>A (p.Gln234Lys)
c.511C>A (p.Gln171Lys)
 dbSNP
10g.86716587C=CA1925631949LDB3n.515-2140C=
c.1303C= (p.Gln435=)
c.1351C= (p.Gln451=)
c.1492C= (p.Gln498=)
c.1162C= (p.Gln388=)
c.1507C= (p.Gln503=)
c.1744C= (p.Gln582=)
c.1696C= (p.Gln566=)
c.1555C= (p.Gln519=)
c.1540C= (p.Gln514=)
c.1399C= (p.Gln467=)
c.1210C= (p.Gln404=)
c.1195C= (p.Gln399=)
c.700C= (p.Gln234=)
c.511C= (p.Gln171=)
10g.86716587C>GCA377451000LDB3n.515-2140C>G
c.1303C>G (p.Gln435Glu)
c.1351C>G (p.Gln451Glu)
c.1492C>G (p.Gln498Glu)
c.1162C>G (p.Gln388Glu)
c.1507C>G (p.Gln503Glu)
c.1744C>G (p.Gln582Glu)
c.1696C>G (p.Gln566Glu)
c.1555C>G (p.Gln519Glu)
c.1540C>G (p.Gln514Glu)
c.1399C>G (p.Gln467Glu)
c.1210C>G (p.Gln404Glu)
c.1195C>G (p.Gln399Glu)
c.700C>G (p.Gln234Glu)
c.511C>G (p.Gln171Glu)
10g.86716587C>TCA377451003LDB3n.515-2140C>T
c.1303C>T (p.Gln435Ter)
c.1351C>T (p.Gln451Ter)
c.1492C>T (p.Gln498Ter)
c.1162C>T (p.Gln388Ter)
c.1507C>T (p.Gln503Ter)
c.1744C>T (p.Gln582Ter)
c.1696C>T (p.Gln566Ter)
c.1555C>T (p.Gln519Ter)
c.1540C>T (p.Gln514Ter)
c.1399C>T (p.Gln467Ter)
c.1210C>T (p.Gln404Ter)
c.1195C>T (p.Gln399Ter)
c.700C>T (p.Gln234Ter)
c.511C>T (p.Gln171Ter)
10g.86716588A=CA1925631950LDB3n.515-2139A=
c.1304A= (p.Gln435=)
c.1352A= (p.Gln451=)
c.1493A= (p.Gln498=)
c.1163A= (p.Gln388=)
c.1508A= (p.Gln503=)
c.1745A= (p.Gln582=)
c.1697A= (p.Gln566=)
c.1556A= (p.Gln519=)
c.1541A= (p.Gln514=)
c.1400A= (p.Gln467=)
c.1211A= (p.Gln404=)
c.1196A= (p.Gln399=)
c.701A= (p.Gln234=)
c.512A= (p.Gln171=)
10g.86716588A>CCA377451005LDB3n.515-2139A>C
c.1304A>C (p.Gln435Pro)
c.1352A>C (p.Gln451Pro)
c.1493A>C (p.Gln498Pro)
c.1163A>C (p.Gln388Pro)
c.1508A>C (p.Gln503Pro)
c.1745A>C (p.Gln582Pro)
c.1697A>C (p.Gln566Pro)
c.1556A>C (p.Gln519Pro)
c.1541A>C (p.Gln514Pro)
c.1400A>C (p.Gln467Pro)
c.1211A>C (p.Gln404Pro)
c.1196A>C (p.Gln399Pro)
c.701A>C (p.Gln234Pro)
c.512A>C (p.Gln171Pro)
10g.86716588A>GCA5585170LDB3n.515-2139A>G
c.1304A>G (p.Gln435Arg)
c.1352A>G (p.Gln451Arg)
c.1493A>G (p.Gln498Arg)
c.1163A>G (p.Gln388Arg)
c.1508A>G (p.Gln503Arg)
c.1745A>G (p.Gln582Arg)
c.1697A>G (p.Gln566Arg)
c.1556A>G (p.Gln519Arg)
c.1541A>G (p.Gln514Arg)
c.1400A>G (p.Gln467Arg)
c.1211A>G (p.Gln404Arg)
c.1196A>G (p.Gln399Arg)
c.701A>G (p.Gln234Arg)
c.512A>G (p.Gln171Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.86716588A>TCA377451008LDB3n.515-2139A>T
c.1304A>T (p.Gln435Leu)
c.1352A>T (p.Gln451Leu)
c.1493A>T (p.Gln498Leu)
c.1163A>T (p.Gln388Leu)
c.1508A>T (p.Gln503Leu)
c.1745A>T (p.Gln582Leu)
c.1697A>T (p.Gln566Leu)
c.1556A>T (p.Gln519Leu)
c.1541A>T (p.Gln514Leu)
c.1400A>T (p.Gln467Leu)
c.1211A>T (p.Gln404Leu)
c.1196A>T (p.Gln399Leu)
c.701A>T (p.Gln234Leu)
c.512A>T (p.Gln171Leu)
10g.86716589G>ACA470375650LDB3n.515-2138G>A
c.1305G>A (p.Gln435=)
c.1353G>A (p.Gln451=)
c.1494G>A (p.Gln498=)
c.1164G>A (p.Gln388=)
c.1509G>A (p.Gln503=)
c.1746G>A (p.Gln582=)
c.1698G>A (p.Gln566=)
c.1557G>A (p.Gln519=)
c.1542G>A (p.Gln514=)
c.1401G>A (p.Gln467=)
c.1212G>A (p.Gln404=)
c.1197G>A (p.Gln399=)
c.702G>A (p.Gln234=)
c.513G>A (p.Gln171=)
10g.86716589G>CCA377451011LDB3n.515-2138G>C
c.1305G>C (p.Gln435His)
c.1353G>C (p.Gln451His)
c.1494G>C (p.Gln498His)
c.1164G>C (p.Gln388His)
c.1509G>C (p.Gln503His)
c.1746G>C (p.Gln582His)
c.1698G>C (p.Gln566His)
c.1557G>C (p.Gln519His)
c.1542G>C (p.Gln514His)
c.1401G>C (p.Gln467His)
c.1212G>C (p.Gln404His)
c.1197G>C (p.Gln399His)
c.702G>C (p.Gln234His)
c.513G>C (p.Gln171His)
10g.86716589G>TCA377451013LDB3n.515-2138G>T
c.1305G>T (p.Gln435His)
c.1353G>T (p.Gln451His)
c.1494G>T (p.Gln498His)
c.1164G>T (p.Gln388His)
c.1509G>T (p.Gln503His)
c.1746G>T (p.Gln582His)
c.1698G>T (p.Gln566His)
c.1557G>T (p.Gln519His)
c.1542G>T (p.Gln514His)
c.1401G>T (p.Gln467His)
c.1212G>T (p.Gln404His)
c.1197G>T (p.Gln399His)
c.702G>T (p.Gln234His)
c.513G>T (p.Gln171His)
10g.86716590A>CCA377451023LDB3n.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)
10g.86716590A>GCA377451020LDB3n.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)
10g.86716590A>TCA377451017LDB3n.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)
10g.86716591dupCA2609997614LDB3n.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
10g.86716591A>CCA377451024LDB3n.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)
10g.86716591A>GCA377451026LDB3n.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)
10g.86716591A>TCA377451029LDB3n.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)
10g.86716592G>ACA470375668LDB3n.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
10g.86716592G>CCA377451031LDB3n.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
10g.86716592G=CA1925631951LDB3n.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=)
10g.86716592G>TCA377451033LDB3n.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
10g.86716593T>ACA377451037LDB3n.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)
10g.86716593T>CCA377451039LDB3n.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
10g.86716593T>GCA377451042LDB3n.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)
10g.86716594T>ACA377451045LDB3n.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)
10g.86716594T>CCA377451048LDB3n.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)
10g.86716594T>GCA377451049LDB3n.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)
10g.86716595T>ACA377451051LDB3n.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)
10g.86716595T>CCA470375683LDB3n.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=)
10g.86716595T>GCA377451053LDB3n.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)
10g.86716596G>ACA377451059LDB3n.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
10g.86716596G>CCA377451057LDB3n.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)
10g.86716596G>TCA377451055LDB3n.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)
10g.86716597C>ACA377451061LDB3n.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)
10g.86716597C=CA1925631952LDB3n.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=)
10g.86716597C>GCA377451064LDB3n.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)
10g.86716597C>TCA5585171LDB3n.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
10g.86716598C>ACA470375705LDB3n.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=)
10g.86716598C=CA1925631953LDB3n.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=)
10g.86716598C>GCA470375707LDB3n.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=)
10g.86716598C>TCA136533LDB3n.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
10g.86716599C>ACA377451068LDB3n.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)
10g.86716599C>GCA377451069LDB3n.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)
10g.86716599C>TCA377451071LDB3n.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)
10g.86716600C>ACA377451073LDB3n.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)
10g.86716600C=CA1925631954LDB3n.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=)
10g.86716600C>GCA377451074LDB3n.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)
10g.86716600C>TCA5585172LDB3n.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
10g.86716601G>ACA136536LDB3n.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
10g.86716601G>CCA470375725LDB3n.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=)
10g.86716601G=CA1925631955LDB3n.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=)
10g.86716601G>TCA470375729LDB3n.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
10g.86716602G>ACA377451079LDB3n.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
10g.86716602G>CCA377451081LDB3n.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)
10g.86716602G>TCA377451082LDB3n.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
10g.86716603G>ACA5585173LDB3n.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
10g.86716603G>CCA377451084LDB3n.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)
10g.86716603G=CA1925631956LDB3n.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=)
10g.86716603G>TCA377451086LDB3n.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)
10g.86716604delCA2574457143LDB3n.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?)
10g.86716604C>ACA470375748LDB3n.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
10g.86716604C>GCA470375746LDB3n.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
10g.86716604C>TCA470375745LDB3n.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=)
10g.86716605A>CCA377451088LDB3n.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)
10g.86716605A>GCA377451092LDB3n.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)
10g.86716605A>TCA377451090LDB3n.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)
10g.86716606A>CCA377451094LDB3n.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)
10g.86716606A>GCA377451096LDB3n.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)
10g.86716606A>TCA377451098LDB3n.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)
10g.86716607G>ACA470375763LDB3n.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
10g.86716607G>CCA377451100LDB3n.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)
10g.86716607G>TCA377451101LDB3n.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)
10g.86716608A>CCA377451103LDB3n.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)
10g.86716608A>GCA377451105LDB3n.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)
10g.86716608A>TCA377451107LDB3n.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)
10g.86716609G>ACA5585174LDB3n.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
10g.86716609G>CCA377451110LDB3n.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
10g.86716609G=CA1925631957LDB3n.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=)
10g.86716609G>TCA377451112LDB3n.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)
10g.86716610C>ACA377451116LDB3n.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)
10g.86716610C=CA1925631959LDB3n.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=)
10g.86716610C>GCA377451114LDB3n.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)
10g.86716610C>TCA470375780LDB3n.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
10g.86716610_86716611delinsCACA1925631958LDB3n.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=)
10g.86716611delCA5585175LDB3n.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
10g.86716611A>CCA377451119LDB3n.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)
10g.86716611A>GCA377451121LDB3n.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)
10g.86716611A>TCA377451122LDB3n.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)
10g.86716612C>ACA377451125LDB3n.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)
10g.86716612C>GCA377451127LDB3n.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)
10g.86716612C>TCA377451129LDB3n.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)
10g.86716613C>ACA470375797LDB3n.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=)
10g.86716613C>GCA470375799LDB3n.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=)
10g.86716613C>TCA470375801LDB3n.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=)
10g.86716614A=CA1925631960LDB3n.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=)
10g.86716614A>CCA377451131LDB3n.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
10g.86716614A>GCA377451135LDB3n.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)
10g.86716614A>TCA377451133LDB3n.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)
10g.86716615C>ACA5585176LDB3n.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
10g.86716615C=CA1925631961LDB3n.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=)
10g.86716615C>GCA377451138LDB3n.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)
10g.86716615C>TCA377451140LDB3n.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
10g.86716616C>ACA470375815LDB3n.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=)
10g.86716616C=CA1925631962LDB3n.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=)
10g.86716616C>GCA470375816LDB3n.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=)
10g.86716616C>TCA5585177LDB3n.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
10g.86716617T>ACA377451147LDB3n.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)
10g.86716617T>CCA377451144LDB3n.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)
10g.86716617T>GCA377451145LDB3n.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)
10g.86716618C>ACA377451148LDB3n.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)
10g.86716618C>GCA377451149LDB3n.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)
10g.86716618C>TCA377451154LDB3n.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)
10g.86716619C>ACA470375833LDB3n.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=)
10g.86716619C>GCA470375835LDB3n.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=)
10g.86716619C>TCA470375838LDB3n.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
10g.86716620A>CCA377451157LDB3n.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)
10g.86716620A>GCA377451159LDB3n.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
10g.86716620A>TCA377451161LDB3n.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)
10g.86716621T>ACA377451162LDB3n.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)
10g.86716621T>CCA377451164LDB3n.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)
10g.86716621T>GCA377451166LDB3n.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)
10g.86716622C>ACA470375852LDB3n.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=)
10g.86716622C>GCA377451168LDB3n.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)
10g.86716622C>TCA470375856LDB3n.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=)
10g.86716623delCA2609997615LDB3n.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
10g.86716623A>CCA377451171LDB3n.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)
10g.86716623A>GCA377451172LDB3n.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)
10g.86716623A>TCA377451174LDB3n.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)
10g.86716624G>ACA5585178LDB3n.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
10g.86716624G>CCA377451179LDB3n.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)
10g.86716624G=CA1925631963LDB3n.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=)
10g.86716624G>TCA377451177LDB3n.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)
10g.86716625C>ACA377451182LDB3n.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)
10g.86716625C>GCA377451184LDB3n.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)
10g.86716625C>TCA470375874LDB3n.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=)
10g.86716626A>CCA377451187LDB3n.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)
10g.86716626A>GCA377451188LDB3n.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)
10g.86716626A>TCA377451190LDB3n.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)
10g.86716627A>CCA377451192LDB3n.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)
10g.86716627A>GCA377451194LDB3n.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)
10g.86716627A>TCA377451197LDB3n.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)
10g.86716628G>ACA470375888LDB3n.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=)
10g.86716628G>CCA377451198LDB3n.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)
10g.86716628G>TCA377451199LDB3n.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)
10g.86716629C>ACA377451200LDB3n.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)
10g.86716629C>GCA377451201LDB3n.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)
10g.86716629C>TCA377451203LDB3n.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
10g.86716630A=CA1925631964LDB3n.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=)
10g.86716630A>CCA136539LDB3n.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
10g.86716630A>GCA211205527LDB3n.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
10g.86716630A>TCA377451208LDB3n.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)
10g.86716631G>ACA470375907LDB3n.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=)
10g.86716631G>CCA377451210LDB3n.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)
10g.86716631G>TCA377451211LDB3n.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)
10g.86716632A=CA1925631965LDB3n.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=)
10g.86716632A>CCA377451212LDB3n.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)
10g.86716632A>GCA5585179LDB3n.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
10g.86716632A>TCA377451213LDB3n.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)
10g.86716633C>ACA5585180LDB3n.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
10g.86716633C=CA1925631966LDB3n.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=)
10g.86716633C>GCA377451216LDB3n.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)
10g.86716633C>TCA377451219LDB3n.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
10g.86716634C>ACA470375925LDB3n.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=)
10g.86716634C=CA1925631967LDB3n.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=)
10g.86716634C>GCA470375928LDB3n.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
10g.86716634C>TCA470375930LDB3n.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
10g.86716635C>ACA377451220LDB3n.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)
10g.86716635C=CA1925631968LDB3n.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=)
10g.86716635C>GCA5585181LDB3n.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
10g.86716635C>TCA470375933LDB3n.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
10g.86716636T>ACA377451222LDB3n.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)
10g.86716636T>CCA377451224LDB3n.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)
10g.86716636T>GCA377451226LDB3n.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)
10g.86716637G>ACA470375944LDB3n.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
10g.86716637G>CCA470375946LDB3n.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=)
10g.86716637G=CA1925631969LDB3n.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=)
10g.86716637G>TCA470375949LDB3n.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
10g.86716638C>ACA377451232LDB3n.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)
10g.86716638C=CA1925631970LDB3n.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=)
10g.86716638C>GCA377451230LDB3n.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)
10g.86716638C>TCA377451228LDB3n.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
10g.86716641delCA2609997616LDB3n.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
10g.86716639C>ACA377451234LDB3n.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)
10g.86716639C>GCA377451236LDB3n.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
10g.86716639C>TCA377451238LDB3n.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
10g.86716640C>ACA470375966LDB3n.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=)
10g.86716640C>GCA470375962LDB3n.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=)
10g.86716640C>TCA470375964LDB3n.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=)
10g.86716641C>ACA470375970LDB3n.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=)
10g.86716641C=CA1925631971LDB3n.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=)
10g.86716641C>GCA377451240LDB3n.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)
10g.86716641C>TCA5585182LDB3n.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
10g.86716642G>ACA5585183LDB3n.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
10g.86716642G>CCA377451243LDB3n.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)
10g.86716642G=CA1925631972LDB3n.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=)
10g.86716642G>TCA5585184LDB3n.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
10g.86716645delCA2609997617LDB3n.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
10g.86716643G>ACA5585185LDB3n.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
10g.86716643G>CCA470375983LDB3n.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=)
10g.86716643G=CA1925631973LDB3n.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=)
10g.86716643G>TCA470375985LDB3n.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=)
10g.86716644G>ACA377451248LDB3n.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)
10g.86716644G>CCA377451250LDB3n.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)
10g.86716644G=CA1925631974LDB3n.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=)
10g.86716644G>TCA377451252LDB3n.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)
10g.86716645G>ACA377451261LDB3n.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)
10g.86716645G>CCA377451259LDB3n.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)
10g.86716645G>TCA377451256LDB3n.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)
10g.86716646_86716667dupCA930816424LDB3n.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
10g.86716646A>CCA470376002LDB3n.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=)
10g.86716646A>GCA470376006LDB3n.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=)
10g.86716646A>TCA470376004LDB3n.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=)
10g.86716647G>ACA377451263LDB3n.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)
10g.86716647G>CCA377451265LDB3n.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)
10g.86716647G>TCA377451266LDB3n.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)
10g.86716648delCA2573332893LDB3n.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?)
10g.86716648G>ACA377451268LDB3n.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
10g.86716648G>CCA377451269LDB3n.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)
10g.86716648G=CA1925631975LDB3n.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=)
10g.86716648G>TCA377451272LDB3n.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
10g.86716649C>ACA470376027LDB3n.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
10g.86716649C>GCA470376024LDB3n.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=)
10g.86716649C>TCA470376022LDB3n.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=)
10g.86716650C>ACA377451279LDB3n.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)
10g.86716650C>GCA377451282LDB3n.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)
10g.86716650C>TCA377451285LDB3n.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)

Number of alleles fetched