Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.86716497_86716507delCA595183696LDB3n.515-2230_515-2220del
c.1213_1223del (p.Asn405CysfsTer23)
c.1261_1271del (p.Asn421CysfsTer23)
c.1402_1412del (p.Asn468CysfsTer23)
c.1072_1082del (p.Asn358CysfsTer23)
c.1417_1427del (p.Asn473CysfsTer23)
c.1654_1664del (p.Asn552CysfsTer23)
c.1606_1616del (p.Asn536CysfsTer23)
c.1465_1475del (p.Asn489CysfsTer23)
c.1450_1460del (p.Asn484CysfsTer23)
c.1309_1319del (p.Asn437CysfsTer23)
c.1120_1130del (p.Asn374CysfsTer23)
c.1105_1115del (p.Asn369CysfsTer23)
c.610_620del (p.Asn204CysfsTer23)
c.421_431del (p.Asn141CysfsTer23)
 dbSNP gnomAD v2 gnomAD v4
10g.86716506C>ACA377450480LDB3n.515-2221C>A
c.1222C>A (p.Pro408Thr)
c.1270C>A (p.Pro424Thr)
c.1411C>A (p.Pro471Thr)
c.1081C>A (p.Pro361Thr)
c.1426C>A (p.Pro476Thr)
c.1663C>A (p.Pro555Thr)
c.1615C>A (p.Pro539Thr)
c.1474C>A (p.Pro492Thr)
c.1459C>A (p.Pro487Thr)
c.1318C>A (p.Pro440Thr)
c.1129C>A (p.Pro377Thr)
c.1114C>A (p.Pro372Thr)
c.619C>A (p.Pro207Thr)
c.430C>A (p.Pro144Thr)
 gnomAD v4
10g.86716506C=CA1925631907LDB3n.515-2221C=
c.1222C= (p.Pro408=)
c.1270C= (p.Pro424=)
c.1411C= (p.Pro471=)
c.1081C= (p.Pro361=)
c.1426C= (p.Pro476=)
c.1663C= (p.Pro555=)
c.1615C= (p.Pro539=)
c.1474C= (p.Pro492=)
c.1459C= (p.Pro487=)
c.1318C= (p.Pro440=)
c.1129C= (p.Pro377=)
c.1114C= (p.Pro372=)
c.619C= (p.Pro207=)
c.430C= (p.Pro144=)
10g.86716506C>GCA377450481LDB3n.515-2221C>G
c.1222C>G (p.Pro408Ala)
c.1270C>G (p.Pro424Ala)
c.1411C>G (p.Pro471Ala)
c.1081C>G (p.Pro361Ala)
c.1426C>G (p.Pro476Ala)
c.1663C>G (p.Pro555Ala)
c.1615C>G (p.Pro539Ala)
c.1474C>G (p.Pro492Ala)
c.1459C>G (p.Pro487Ala)
c.1318C>G (p.Pro440Ala)
c.1129C>G (p.Pro377Ala)
c.1114C>G (p.Pro372Ala)
c.619C>G (p.Pro207Ala)
c.430C>G (p.Pro144Ala)
10g.86716506C>TCA5585154LDB3n.515-2221C>T
c.1222C>T (p.Pro408Ser)
c.1270C>T (p.Pro424Ser)
c.1411C>T (p.Pro471Ser)
c.1081C>T (p.Pro361Ser)
c.1426C>T (p.Pro476Ser)
c.1663C>T (p.Pro555Ser)
c.1615C>T (p.Pro539Ser)
c.1474C>T (p.Pro492Ser)
c.1459C>T (p.Pro487Ser)
c.1318C>T (p.Pro440Ser)
c.1129C>T (p.Pro377Ser)
c.1114C>T (p.Pro372Ser)
c.619C>T (p.Pro207Ser)
c.430C>T (p.Pro144Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716507C>ACA377450482LDB3n.515-2220C>A
c.1223C>A (p.Pro408His)
c.1271C>A (p.Pro424His)
c.1412C>A (p.Pro471His)
c.1082C>A (p.Pro361His)
c.1427C>A (p.Pro476His)
c.1664C>A (p.Pro555His)
c.1616C>A (p.Pro539His)
c.1475C>A (p.Pro492His)
c.1460C>A (p.Pro487His)
c.1319C>A (p.Pro440His)
c.1130C>A (p.Pro377His)
c.1115C>A (p.Pro372His)
c.620C>A (p.Pro207His)
c.431C>A (p.Pro144His)
10g.86716507C>GCA377450483LDB3n.515-2220C>G
c.1223C>G (p.Pro408Arg)
c.1271C>G (p.Pro424Arg)
c.1412C>G (p.Pro471Arg)
c.1082C>G (p.Pro361Arg)
c.1427C>G (p.Pro476Arg)
c.1664C>G (p.Pro555Arg)
c.1616C>G (p.Pro539Arg)
c.1475C>G (p.Pro492Arg)
c.1460C>G (p.Pro487Arg)
c.1319C>G (p.Pro440Arg)
c.1130C>G (p.Pro377Arg)
c.1115C>G (p.Pro372Arg)
c.620C>G (p.Pro207Arg)
c.431C>G (p.Pro144Arg)
10g.86716507C>TCA377450486LDB3n.515-2220C>T
c.1223C>T (p.Pro408Leu)
c.1271C>T (p.Pro424Leu)
c.1412C>T (p.Pro471Leu)
c.1082C>T (p.Pro361Leu)
c.1427C>T (p.Pro476Leu)
c.1664C>T (p.Pro555Leu)
c.1616C>T (p.Pro539Leu)
c.1475C>T (p.Pro492Leu)
c.1460C>T (p.Pro487Leu)
c.1319C>T (p.Pro440Leu)
c.1130C>T (p.Pro377Leu)
c.1115C>T (p.Pro372Leu)
c.620C>T (p.Pro207Leu)
c.431C>T (p.Pro144Leu)
 gnomAD v4
10g.86716508T>ACA470375206LDB3n.515-2219T>A
c.1224T>A (p.Pro408=)
c.1272T>A (p.Pro424=)
c.1413T>A (p.Pro471=)
c.1083T>A (p.Pro361=)
c.1428T>A (p.Pro476=)
c.1665T>A (p.Pro555=)
c.1617T>A (p.Pro539=)
c.1476T>A (p.Pro492=)
c.1461T>A (p.Pro487=)
c.1320T>A (p.Pro440=)
c.1131T>A (p.Pro377=)
c.1116T>A (p.Pro372=)
c.621T>A (p.Pro207=)
c.432T>A (p.Pro144=)
10g.86716508T>CCA470375208LDB3n.515-2219T>C
c.1224T>C (p.Pro408=)
c.1272T>C (p.Pro424=)
c.1413T>C (p.Pro471=)
c.1083T>C (p.Pro361=)
c.1428T>C (p.Pro476=)
c.1665T>C (p.Pro555=)
c.1617T>C (p.Pro539=)
c.1476T>C (p.Pro492=)
c.1461T>C (p.Pro487=)
c.1320T>C (p.Pro440=)
c.1131T>C (p.Pro377=)
c.1116T>C (p.Pro372=)
c.621T>C (p.Pro207=)
c.432T>C (p.Pro144=)
10g.86716508T>GCA470375210LDB3n.515-2219T>G
c.1224T>G (p.Pro408=)
c.1272T>G (p.Pro424=)
c.1413T>G (p.Pro471=)
c.1083T>G (p.Pro361=)
c.1428T>G (p.Pro476=)
c.1665T>G (p.Pro555=)
c.1617T>G (p.Pro539=)
c.1476T>G (p.Pro492=)
c.1461T>G (p.Pro487=)
c.1320T>G (p.Pro440=)
c.1131T>G (p.Pro377=)
c.1116T>G (p.Pro372=)
c.621T>G (p.Pro207=)
c.432T>G (p.Pro144=)
10g.86716509G>ACA377450489LDB3n.515-2218G>A
c.1225G>A (p.Ala409Thr)
c.1273G>A (p.Ala425Thr)
c.1414G>A (p.Ala472Thr)
c.1084G>A (p.Ala362Thr)
c.1429G>A (p.Ala477Thr)
c.1666G>A (p.Ala556Thr)
c.1618G>A (p.Ala540Thr)
c.1477G>A (p.Ala493Thr)
c.1462G>A (p.Ala488Thr)
c.1321G>A (p.Ala441Thr)
c.1132G>A (p.Ala378Thr)
c.1117G>A (p.Ala373Thr)
c.622G>A (p.Ala208Thr)
c.433G>A (p.Ala145Thr)
10g.86716509G>CCA5585155LDB3n.515-2218G>C
c.1225G>C (p.Ala409Pro)
c.1273G>C (p.Ala425Pro)
c.1414G>C (p.Ala472Pro)
c.1084G>C (p.Ala362Pro)
c.1429G>C (p.Ala477Pro)
c.1666G>C (p.Ala556Pro)
c.1618G>C (p.Ala540Pro)
c.1477G>C (p.Ala493Pro)
c.1462G>C (p.Ala488Pro)
c.1321G>C (p.Ala441Pro)
c.1132G>C (p.Ala378Pro)
c.1117G>C (p.Ala373Pro)
c.622G>C (p.Ala208Pro)
c.433G>C (p.Ala145Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716509G=CA1925631908LDB3n.515-2218G=
c.1225G= (p.Ala409=)
c.1273G= (p.Ala425=)
c.1414G= (p.Ala472=)
c.1084G= (p.Ala362=)
c.1429G= (p.Ala477=)
c.1666G= (p.Ala556=)
c.1618G= (p.Ala540=)
c.1477G= (p.Ala493=)
c.1462G= (p.Ala488=)
c.1321G= (p.Ala441=)
c.1132G= (p.Ala378=)
c.1117G= (p.Ala373=)
c.622G= (p.Ala208=)
c.433G= (p.Ala145=)
10g.86716509G>TCA377450494LDB3n.515-2218G>T
c.1225G>T (p.Ala409Ser)
c.1273G>T (p.Ala425Ser)
c.1414G>T (p.Ala472Ser)
c.1084G>T (p.Ala362Ser)
c.1429G>T (p.Ala477Ser)
c.1666G>T (p.Ala556Ser)
c.1618G>T (p.Ala540Ser)
c.1477G>T (p.Ala493Ser)
c.1462G>T (p.Ala488Ser)
c.1321G>T (p.Ala441Ser)
c.1132G>T (p.Ala378Ser)
c.1117G>T (p.Ala373Ser)
c.622G>T (p.Ala208Ser)
c.433G>T (p.Ala145Ser)
 dbSNP
10g.86716510C>ACA377450506LDB3n.515-2217C>A
c.1226C>A (p.Ala409Glu)
c.1274C>A (p.Ala425Glu)
c.1415C>A (p.Ala472Glu)
c.1085C>A (p.Ala362Glu)
c.1430C>A (p.Ala477Glu)
c.1667C>A (p.Ala556Glu)
c.1619C>A (p.Ala540Glu)
c.1478C>A (p.Ala493Glu)
c.1463C>A (p.Ala488Glu)
c.1322C>A (p.Ala441Glu)
c.1133C>A (p.Ala378Glu)
c.1118C>A (p.Ala373Glu)
c.623C>A (p.Ala208Glu)
c.434C>A (p.Ala145Glu)
10g.86716510C>GCA377450510LDB3n.515-2217C>G
c.1226C>G (p.Ala409Gly)
c.1274C>G (p.Ala425Gly)
c.1415C>G (p.Ala472Gly)
c.1085C>G (p.Ala362Gly)
c.1430C>G (p.Ala477Gly)
c.1667C>G (p.Ala556Gly)
c.1619C>G (p.Ala540Gly)
c.1478C>G (p.Ala493Gly)
c.1463C>G (p.Ala488Gly)
c.1322C>G (p.Ala441Gly)
c.1133C>G (p.Ala378Gly)
c.1118C>G (p.Ala373Gly)
c.623C>G (p.Ala208Gly)
c.434C>G (p.Ala145Gly)
10g.86716510C>TCA377450513LDB3n.515-2217C>T
c.1226C>T (p.Ala409Val)
c.1274C>T (p.Ala425Val)
c.1415C>T (p.Ala472Val)
c.1085C>T (p.Ala362Val)
c.1430C>T (p.Ala477Val)
c.1667C>T (p.Ala556Val)
c.1619C>T (p.Ala540Val)
c.1478C>T (p.Ala493Val)
c.1463C>T (p.Ala488Val)
c.1322C>T (p.Ala441Val)
c.1133C>T (p.Ala378Val)
c.1118C>T (p.Ala373Val)
c.623C>T (p.Ala208Val)
c.434C>T (p.Ala145Val)
 gnomAD v4
10g.86716511A>CCA470375220LDB3n.515-2216A>C
c.1227A>C (p.Ala409=)
c.1275A>C (p.Ala425=)
c.1416A>C (p.Ala472=)
c.1086A>C (p.Ala362=)
c.1431A>C (p.Ala477=)
c.1668A>C (p.Ala556=)
c.1620A>C (p.Ala540=)
c.1479A>C (p.Ala493=)
c.1464A>C (p.Ala488=)
c.1323A>C (p.Ala441=)
c.1134A>C (p.Ala378=)
c.1119A>C (p.Ala373=)
c.624A>C (p.Ala208=)
c.435A>C (p.Ala145=)
10g.86716511A>GCA470375221LDB3n.515-2216A>G
c.1227A>G (p.Ala409=)
c.1275A>G (p.Ala425=)
c.1416A>G (p.Ala472=)
c.1086A>G (p.Ala362=)
c.1431A>G (p.Ala477=)
c.1668A>G (p.Ala556=)
c.1620A>G (p.Ala540=)
c.1479A>G (p.Ala493=)
c.1464A>G (p.Ala488=)
c.1323A>G (p.Ala441=)
c.1134A>G (p.Ala378=)
c.1119A>G (p.Ala373=)
c.624A>G (p.Ala208=)
c.435A>G (p.Ala145=)
 gnomAD v4
10g.86716511A>TCA470375223LDB3n.515-2216A>T
c.1227A>T (p.Ala409=)
c.1275A>T (p.Ala425=)
c.1416A>T (p.Ala472=)
c.1086A>T (p.Ala362=)
c.1431A>T (p.Ala477=)
c.1668A>T (p.Ala556=)
c.1620A>T (p.Ala540=)
c.1479A>T (p.Ala493=)
c.1464A>T (p.Ala488=)
c.1323A>T (p.Ala441=)
c.1134A>T (p.Ala378=)
c.1119A>T (p.Ala373=)
c.624A>T (p.Ala208=)
c.435A>T (p.Ala145=)
10g.86716512C>ACA377450521LDB3n.515-2215C>A
c.1228C>A (p.Pro410Thr)
c.1276C>A (p.Pro426Thr)
c.1417C>A (p.Pro473Thr)
c.1087C>A (p.Pro363Thr)
c.1432C>A (p.Pro478Thr)
c.1669C>A (p.Pro557Thr)
c.1621C>A (p.Pro541Thr)
c.1480C>A (p.Pro494Thr)
c.1465C>A (p.Pro489Thr)
c.1324C>A (p.Pro442Thr)
c.1135C>A (p.Pro379Thr)
c.1120C>A (p.Pro374Thr)
c.625C>A (p.Pro209Thr)
c.436C>A (p.Pro146Thr)
 gnomAD v4
10g.86716512C=CA1925631909LDB3n.515-2215C=
c.1228C= (p.Pro410=)
c.1276C= (p.Pro426=)
c.1417C= (p.Pro473=)
c.1087C= (p.Pro363=)
c.1432C= (p.Pro478=)
c.1669C= (p.Pro557=)
c.1621C= (p.Pro541=)
c.1480C= (p.Pro494=)
c.1465C= (p.Pro489=)
c.1324C= (p.Pro442=)
c.1135C= (p.Pro379=)
c.1120C= (p.Pro374=)
c.625C= (p.Pro209=)
c.436C= (p.Pro146=)
10g.86716512C>GCA377450519LDB3n.515-2215C>G
c.1228C>G (p.Pro410Ala)
c.1276C>G (p.Pro426Ala)
c.1417C>G (p.Pro473Ala)
c.1087C>G (p.Pro363Ala)
c.1432C>G (p.Pro478Ala)
c.1669C>G (p.Pro557Ala)
c.1621C>G (p.Pro541Ala)
c.1480C>G (p.Pro494Ala)
c.1465C>G (p.Pro489Ala)
c.1324C>G (p.Pro442Ala)
c.1135C>G (p.Pro379Ala)
c.1120C>G (p.Pro374Ala)
c.625C>G (p.Pro209Ala)
c.436C>G (p.Pro146Ala)
10g.86716512C>TCA211205304LDB3n.515-2215C>T
c.1228C>T (p.Pro410Ser)
c.1276C>T (p.Pro426Ser)
c.1417C>T (p.Pro473Ser)
c.1087C>T (p.Pro363Ser)
c.1432C>T (p.Pro478Ser)
c.1669C>T (p.Pro557Ser)
c.1621C>T (p.Pro541Ser)
c.1480C>T (p.Pro494Ser)
c.1465C>T (p.Pro489Ser)
c.1324C>T (p.Pro442Ser)
c.1135C>T (p.Pro379Ser)
c.1120C>T (p.Pro374Ser)
c.625C>T (p.Pro209Ser)
c.436C>T (p.Pro146Ser)
 dbSNP gnomAD v2 gnomAD v4
10g.86716513C>ACA5585156LDB3n.515-2214C>A
c.1229C>A (p.Pro410His)
c.1277C>A (p.Pro426His)
c.1418C>A (p.Pro473His)
c.1088C>A (p.Pro363His)
c.1433C>A (p.Pro478His)
c.1670C>A (p.Pro557His)
c.1622C>A (p.Pro541His)
c.1481C>A (p.Pro494His)
c.1466C>A (p.Pro489His)
c.1325C>A (p.Pro442His)
c.1136C>A (p.Pro379His)
c.1121C>A (p.Pro374His)
c.626C>A (p.Pro209His)
c.437C>A (p.Pro146His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716513C=CA1925631910LDB3n.515-2214C=
c.1229C= (p.Pro410=)
c.1277C= (p.Pro426=)
c.1418C= (p.Pro473=)
c.1088C= (p.Pro363=)
c.1433C= (p.Pro478=)
c.1670C= (p.Pro557=)
c.1622C= (p.Pro541=)
c.1481C= (p.Pro494=)
c.1466C= (p.Pro489=)
c.1325C= (p.Pro442=)
c.1136C= (p.Pro379=)
c.1121C= (p.Pro374=)
c.626C= (p.Pro209=)
c.437C= (p.Pro146=)
10g.86716513C>GCA377450525LDB3n.515-2214C>G
c.1229C>G (p.Pro410Arg)
c.1277C>G (p.Pro426Arg)
c.1418C>G (p.Pro473Arg)
c.1088C>G (p.Pro363Arg)
c.1433C>G (p.Pro478Arg)
c.1670C>G (p.Pro557Arg)
c.1622C>G (p.Pro541Arg)
c.1481C>G (p.Pro494Arg)
c.1466C>G (p.Pro489Arg)
c.1325C>G (p.Pro442Arg)
c.1136C>G (p.Pro379Arg)
c.1121C>G (p.Pro374Arg)
c.626C>G (p.Pro209Arg)
c.437C>G (p.Pro146Arg)
10g.86716513C>TCA377450523LDB3n.515-2214C>T
c.1229C>T (p.Pro410Leu)
c.1277C>T (p.Pro426Leu)
c.1418C>T (p.Pro473Leu)
c.1088C>T (p.Pro363Leu)
c.1433C>T (p.Pro478Leu)
c.1670C>T (p.Pro557Leu)
c.1622C>T (p.Pro541Leu)
c.1481C>T (p.Pro494Leu)
c.1466C>T (p.Pro489Leu)
c.1325C>T (p.Pro442Leu)
c.1136C>T (p.Pro379Leu)
c.1121C>T (p.Pro374Leu)
c.626C>T (p.Pro209Leu)
c.437C>T (p.Pro146Leu)
10g.86716514C>ACA470375235LDB3n.515-2213C>A
c.1230C>A (p.Pro410=)
c.1278C>A (p.Pro426=)
c.1419C>A (p.Pro473=)
c.1089C>A (p.Pro363=)
c.1434C>A (p.Pro478=)
c.1671C>A (p.Pro557=)
c.1623C>A (p.Pro541=)
c.1482C>A (p.Pro494=)
c.1467C>A (p.Pro489=)
c.1326C>A (p.Pro442=)
c.1137C>A (p.Pro379=)
c.1122C>A (p.Pro374=)
c.627C>A (p.Pro209=)
c.438C>A (p.Pro146=)
10g.86716514C=CA1925631911LDB3n.515-2213C=
c.1230C= (p.Pro410=)
c.1278C= (p.Pro426=)
c.1419C= (p.Pro473=)
c.1089C= (p.Pro363=)
c.1434C= (p.Pro478=)
c.1671C= (p.Pro557=)
c.1623C= (p.Pro541=)
c.1482C= (p.Pro494=)
c.1467C= (p.Pro489=)
c.1326C= (p.Pro442=)
c.1137C= (p.Pro379=)
c.1122C= (p.Pro374=)
c.627C= (p.Pro209=)
c.438C= (p.Pro146=)
10g.86716514C>GCA470375236LDB3n.515-2213C>G
c.1230C>G (p.Pro410=)
c.1278C>G (p.Pro426=)
c.1419C>G (p.Pro473=)
c.1089C>G (p.Pro363=)
c.1434C>G (p.Pro478=)
c.1671C>G (p.Pro557=)
c.1623C>G (p.Pro541=)
c.1482C>G (p.Pro494=)
c.1467C>G (p.Pro489=)
c.1326C>G (p.Pro442=)
c.1137C>G (p.Pro379=)
c.1122C>G (p.Pro374=)
c.627C>G (p.Pro209=)
c.438C>G (p.Pro146=)
10g.86716514C>TCA5585157LDB3n.515-2213C>T
c.1230C>T (p.Pro410=)
c.1278C>T (p.Pro426=)
c.1419C>T (p.Pro473=)
c.1089C>T (p.Pro363=)
c.1434C>T (p.Pro478=)
c.1671C>T (p.Pro557=)
c.1623C>T (p.Pro541=)
c.1482C>T (p.Pro494=)
c.1467C>T (p.Pro489=)
c.1326C>T (p.Pro442=)
c.1137C>T (p.Pro379=)
c.1122C>T (p.Pro374=)
c.627C>T (p.Pro209=)
c.438C>T (p.Pro146=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.86716515T>ACA377450532LDB3n.515-2212T>A
c.1231T>A (p.Ser411Thr)
c.1279T>A (p.Ser427Thr)
c.1420T>A (p.Ser474Thr)
c.1090T>A (p.Ser364Thr)
c.1435T>A (p.Ser479Thr)
c.1672T>A (p.Ser558Thr)
c.1624T>A (p.Ser542Thr)
c.1483T>A (p.Ser495Thr)
c.1468T>A (p.Ser490Thr)
c.1327T>A (p.Ser443Thr)
c.1138T>A (p.Ser380Thr)
c.1123T>A (p.Ser375Thr)
c.628T>A (p.Ser210Thr)
c.439T>A (p.Ser147Thr)
10g.86716515T>CCA377450533LDB3n.515-2212T>C
c.1231T>C (p.Ser411Pro)
c.1279T>C (p.Ser427Pro)
c.1420T>C (p.Ser474Pro)
c.1090T>C (p.Ser364Pro)
c.1435T>C (p.Ser479Pro)
c.1672T>C (p.Ser558Pro)
c.1624T>C (p.Ser542Pro)
c.1483T>C (p.Ser495Pro)
c.1468T>C (p.Ser490Pro)
c.1327T>C (p.Ser443Pro)
c.1138T>C (p.Ser380Pro)
c.1123T>C (p.Ser375Pro)
c.628T>C (p.Ser210Pro)
c.439T>C (p.Ser147Pro)
 gnomAD v4
10g.86716515T>GCA377450534LDB3n.515-2212T>G
c.1231T>G (p.Ser411Ala)
c.1279T>G (p.Ser427Ala)
c.1420T>G (p.Ser474Ala)
c.1090T>G (p.Ser364Ala)
c.1435T>G (p.Ser479Ala)
c.1672T>G (p.Ser558Ala)
c.1624T>G (p.Ser542Ala)
c.1483T>G (p.Ser495Ala)
c.1468T>G (p.Ser490Ala)
c.1327T>G (p.Ser443Ala)
c.1138T>G (p.Ser380Ala)
c.1123T>G (p.Ser375Ala)
c.628T>G (p.Ser210Ala)
c.439T>G (p.Ser147Ala)
10g.86716516C>ACA377450535LDB3n.515-2211C>A
c.1232C>A (p.Ser411Ter)
c.1280C>A (p.Ser427Ter)
c.1421C>A (p.Ser474Ter)
c.1091C>A (p.Ser364Ter)
c.1436C>A (p.Ser479Ter)
c.1673C>A (p.Ser558Ter)
c.1625C>A (p.Ser542Ter)
c.1484C>A (p.Ser495Ter)
c.1469C>A (p.Ser490Ter)
c.1328C>A (p.Ser443Ter)
c.1139C>A (p.Ser380Ter)
c.1124C>A (p.Ser375Ter)
c.629C>A (p.Ser210Ter)
c.440C>A (p.Ser147Ter)
 COSMIC COSMIC COSMIC
10g.86716516C=CA1925631912LDB3n.515-2211C=
c.1232C= (p.Ser411=)
c.1280C= (p.Ser427=)
c.1421C= (p.Ser474=)
c.1091C= (p.Ser364=)
c.1436C= (p.Ser479=)
c.1673C= (p.Ser558=)
c.1625C= (p.Ser542=)
c.1484C= (p.Ser495=)
c.1469C= (p.Ser490=)
c.1328C= (p.Ser443=)
c.1139C= (p.Ser380=)
c.1124C= (p.Ser375=)
c.629C= (p.Ser210=)
c.440C= (p.Ser147=)
10g.86716516C>GCA377450536LDB3n.515-2211C>G
c.1232C>G (p.Ser411Trp)
c.1280C>G (p.Ser427Trp)
c.1421C>G (p.Ser474Trp)
c.1091C>G (p.Ser364Trp)
c.1436C>G (p.Ser479Trp)
c.1673C>G (p.Ser558Trp)
c.1625C>G (p.Ser542Trp)
c.1484C>G (p.Ser495Trp)
c.1469C>G (p.Ser490Trp)
c.1328C>G (p.Ser443Trp)
c.1139C>G (p.Ser380Trp)
c.1124C>G (p.Ser375Trp)
c.629C>G (p.Ser210Trp)
c.440C>G (p.Ser147Trp)
10g.86716516C>TCA211205329LDB3n.515-2211C>T
c.1232C>T (p.Ser411Leu)
c.1280C>T (p.Ser427Leu)
c.1421C>T (p.Ser474Leu)
c.1091C>T (p.Ser364Leu)
c.1436C>T (p.Ser479Leu)
c.1673C>T (p.Ser558Leu)
c.1625C>T (p.Ser542Leu)
c.1484C>T (p.Ser495Leu)
c.1469C>T (p.Ser490Leu)
c.1328C>T (p.Ser443Leu)
c.1139C>T (p.Ser380Leu)
c.1124C>T (p.Ser375Leu)
c.629C>T (p.Ser210Leu)
c.440C>T (p.Ser147Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
10g.86716517G>ACA136508LDB3n.515-2210G>A
c.1233G>A (p.Ser411=)
c.1281G>A (p.Ser427=)
c.1422G>A (p.Ser474=)
c.1092G>A (p.Ser364=)
c.1437G>A (p.Ser479=)
c.1674G>A (p.Ser558=)
c.1626G>A (p.Ser542=)
c.1485G>A (p.Ser495=)
c.1470G>A (p.Ser490=)
c.1329G>A (p.Ser443=)
c.1140G>A (p.Ser380=)
c.1125G>A (p.Ser375=)
c.630G>A (p.Ser210=)
c.441G>A (p.Ser147=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716517G>CCA470375253LDB3n.515-2210G>C
c.1233G>C (p.Ser411=)
c.1281G>C (p.Ser427=)
c.1422G>C (p.Ser474=)
c.1092G>C (p.Ser364=)
c.1437G>C (p.Ser479=)
c.1674G>C (p.Ser558=)
c.1626G>C (p.Ser542=)
c.1485G>C (p.Ser495=)
c.1470G>C (p.Ser490=)
c.1329G>C (p.Ser443=)
c.1140G>C (p.Ser380=)
c.1125G>C (p.Ser375=)
c.630G>C (p.Ser210=)
c.441G>C (p.Ser147=)
 dbSNP gnomAD v2 gnomAD v4
10g.86716517G=CA1925631913LDB3n.515-2210G=
c.1233G= (p.Ser411=)
c.1281G= (p.Ser427=)
c.1422G= (p.Ser474=)
c.1092G= (p.Ser364=)
c.1437G= (p.Ser479=)
c.1674G= (p.Ser558=)
c.1626G= (p.Ser542=)
c.1485G= (p.Ser495=)
c.1470G= (p.Ser490=)
c.1329G= (p.Ser443=)
c.1140G= (p.Ser380=)
c.1125G= (p.Ser375=)
c.630G= (p.Ser210=)
c.441G= (p.Ser147=)
10g.86716517G>TCA470375250LDB3n.515-2210G>T
c.1233G>T (p.Ser411=)
c.1281G>T (p.Ser427=)
c.1422G>T (p.Ser474=)
c.1092G>T (p.Ser364=)
c.1437G>T (p.Ser479=)
c.1674G>T (p.Ser558=)
c.1626G>T (p.Ser542=)
c.1485G>T (p.Ser495=)
c.1470G>T (p.Ser490=)
c.1329G>T (p.Ser443=)
c.1140G>T (p.Ser380=)
c.1125G>T (p.Ser375=)
c.630G>T (p.Ser210=)
c.441G>T (p.Ser147=)
 dbSNP gnomAD v3 gnomAD v4
10g.86716518G>ACA377450542LDB3n.515-2209G>A
c.1234G>A (p.Val412Met)
c.1282G>A (p.Val428Met)
c.1423G>A (p.Val475Met)
c.1093G>A (p.Val365Met)
c.1438G>A (p.Val480Met)
c.1675G>A (p.Val559Met)
c.1627G>A (p.Val543Met)
c.1486G>A (p.Val496Met)
c.1471G>A (p.Val491Met)
c.1330G>A (p.Val444Met)
c.1141G>A (p.Val381Met)
c.1126G>A (p.Val376Met)
c.631G>A (p.Val211Met)
c.442G>A (p.Val148Met)
10g.86716518G>CCA377450547LDB3n.515-2209G>C
c.1234G>C (p.Val412Leu)
c.1282G>C (p.Val428Leu)
c.1423G>C (p.Val475Leu)
c.1093G>C (p.Val365Leu)
c.1438G>C (p.Val480Leu)
c.1675G>C (p.Val559Leu)
c.1627G>C (p.Val543Leu)
c.1486G>C (p.Val496Leu)
c.1471G>C (p.Val491Leu)
c.1330G>C (p.Val444Leu)
c.1141G>C (p.Val381Leu)
c.1126G>C (p.Val376Leu)
c.631G>C (p.Val211Leu)
c.442G>C (p.Val148Leu)
10g.86716518G>TCA377450549LDB3n.515-2209G>T
c.1234G>T (p.Val412Leu)
c.1282G>T (p.Val428Leu)
c.1423G>T (p.Val475Leu)
c.1093G>T (p.Val365Leu)
c.1438G>T (p.Val480Leu)
c.1675G>T (p.Val559Leu)
c.1627G>T (p.Val543Leu)
c.1486G>T (p.Val496Leu)
c.1471G>T (p.Val491Leu)
c.1330G>T (p.Val444Leu)
c.1141G>T (p.Val381Leu)
c.1126G>T (p.Val376Leu)
c.631G>T (p.Val211Leu)
c.442G>T (p.Val148Leu)
10g.86716519T>ACA377450556LDB3n.515-2208T>A
c.1235T>A (p.Val412Glu)
c.1283T>A (p.Val428Glu)
c.1424T>A (p.Val475Glu)
c.1094T>A (p.Val365Glu)
c.1439T>A (p.Val480Glu)
c.1676T>A (p.Val559Glu)
c.1628T>A (p.Val543Glu)
c.1487T>A (p.Val496Glu)
c.1472T>A (p.Val491Glu)
c.1331T>A (p.Val444Glu)
c.1142T>A (p.Val381Glu)
c.1127T>A (p.Val376Glu)
c.632T>A (p.Val211Glu)
c.443T>A (p.Val148Glu)
10g.86716519T>CCA377450554LDB3n.515-2208T>C
c.1235T>C (p.Val412Ala)
c.1283T>C (p.Val428Ala)
c.1424T>C (p.Val475Ala)
c.1094T>C (p.Val365Ala)
c.1439T>C (p.Val480Ala)
c.1676T>C (p.Val559Ala)
c.1628T>C (p.Val543Ala)
c.1487T>C (p.Val496Ala)
c.1472T>C (p.Val491Ala)
c.1331T>C (p.Val444Ala)
c.1142T>C (p.Val381Ala)
c.1127T>C (p.Val376Ala)
c.632T>C (p.Val211Ala)
c.443T>C (p.Val148Ala)
10g.86716519T>GCA377450552LDB3n.515-2208T>G
c.1235T>G (p.Val412Gly)
c.1283T>G (p.Val428Gly)
c.1424T>G (p.Val475Gly)
c.1094T>G (p.Val365Gly)
c.1439T>G (p.Val480Gly)
c.1676T>G (p.Val559Gly)
c.1628T>G (p.Val543Gly)
c.1487T>G (p.Val496Gly)
c.1472T>G (p.Val491Gly)
c.1331T>G (p.Val444Gly)
c.1142T>G (p.Val381Gly)
c.1127T>G (p.Val376Gly)
c.632T>G (p.Val211Gly)
c.443T>G (p.Val148Gly)
10g.86716520G>ACA470375260LDB3n.515-2207G>A
c.1236G>A (p.Val412=)
c.1284G>A (p.Val428=)
c.1425G>A (p.Val475=)
c.1095G>A (p.Val365=)
c.1440G>A (p.Val480=)
c.1677G>A (p.Val559=)
c.1629G>A (p.Val543=)
c.1488G>A (p.Val496=)
c.1473G>A (p.Val491=)
c.1332G>A (p.Val444=)
c.1143G>A (p.Val381=)
c.1128G>A (p.Val376=)
c.633G>A (p.Val211=)
c.444G>A (p.Val148=)
10g.86716520G>CCA470375262LDB3n.515-2207G>C
c.1236G>C (p.Val412=)
c.1284G>C (p.Val428=)
c.1425G>C (p.Val475=)
c.1095G>C (p.Val365=)
c.1440G>C (p.Val480=)
c.1677G>C (p.Val559=)
c.1629G>C (p.Val543=)
c.1488G>C (p.Val496=)
c.1473G>C (p.Val491=)
c.1332G>C (p.Val444=)
c.1143G>C (p.Val381=)
c.1128G>C (p.Val376=)
c.633G>C (p.Val211=)
c.444G>C (p.Val148=)
10g.86716520G>TCA470375264LDB3n.515-2207G>T
c.1236G>T (p.Val412=)
c.1284G>T (p.Val428=)
c.1425G>T (p.Val475=)
c.1095G>T (p.Val365=)
c.1440G>T (p.Val480=)
c.1677G>T (p.Val559=)
c.1629G>T (p.Val543=)
c.1488G>T (p.Val496=)
c.1473G>T (p.Val491=)
c.1332G>T (p.Val444=)
c.1143G>T (p.Val381=)
c.1128G>T (p.Val376=)
c.633G>T (p.Val211=)
c.444G>T (p.Val148=)
10g.86716521G>ACA377450563LDB3n.515-2206G>A
c.1237G>A (p.Ala413Thr)
c.1285G>A (p.Ala429Thr)
c.1426G>A (p.Ala476Thr)
c.1096G>A (p.Ala366Thr)
c.1441G>A (p.Ala481Thr)
c.1678G>A (p.Ala560Thr)
c.1630G>A (p.Ala544Thr)
c.1489G>A (p.Ala497Thr)
c.1474G>A (p.Ala492Thr)
c.1333G>A (p.Ala445Thr)
c.1144G>A (p.Ala382Thr)
c.1129G>A (p.Ala377Thr)
c.634G>A (p.Ala212Thr)
c.445G>A (p.Ala149Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.86716521G>CCA377450565LDB3n.515-2206G>C
c.1237G>C (p.Ala413Pro)
c.1285G>C (p.Ala429Pro)
c.1426G>C (p.Ala476Pro)
c.1096G>C (p.Ala366Pro)
c.1441G>C (p.Ala481Pro)
c.1678G>C (p.Ala560Pro)
c.1630G>C (p.Ala544Pro)
c.1489G>C (p.Ala497Pro)
c.1474G>C (p.Ala492Pro)
c.1333G>C (p.Ala445Pro)
c.1144G>C (p.Ala382Pro)
c.1129G>C (p.Ala377Pro)
c.634G>C (p.Ala212Pro)
c.445G>C (p.Ala149Pro)
10g.86716521G=CA1925631914LDB3n.515-2206G=
c.1237G= (p.Ala413=)
c.1285G= (p.Ala429=)
c.1426G= (p.Ala476=)
c.1096G= (p.Ala366=)
c.1441G= (p.Ala481=)
c.1678G= (p.Ala560=)
c.1630G= (p.Ala544=)
c.1489G= (p.Ala497=)
c.1474G= (p.Ala492=)
c.1333G= (p.Ala445=)
c.1144G= (p.Ala382=)
c.1129G= (p.Ala377=)
c.634G= (p.Ala212=)
c.445G= (p.Ala149=)
10g.86716521G>TCA377450581LDB3n.515-2206G>T
c.1237G>T (p.Ala413Ser)
c.1285G>T (p.Ala429Ser)
c.1426G>T (p.Ala476Ser)
c.1096G>T (p.Ala366Ser)
c.1441G>T (p.Ala481Ser)
c.1678G>T (p.Ala560Ser)
c.1630G>T (p.Ala544Ser)
c.1489G>T (p.Ala497Ser)
c.1474G>T (p.Ala492Ser)
c.1333G>T (p.Ala445Ser)
c.1144G>T (p.Ala382Ser)
c.1129G>T (p.Ala377Ser)
c.634G>T (p.Ala212Ser)
c.445G>T (p.Ala149Ser)
 ClinVar dbSNP
10g.86716522C>ACA377450585LDB3n.515-2205C>A
c.1238C>A (p.Ala413Asp)
c.1286C>A (p.Ala429Asp)
c.1427C>A (p.Ala476Asp)
c.1097C>A (p.Ala366Asp)
c.1442C>A (p.Ala481Asp)
c.1679C>A (p.Ala560Asp)
c.1631C>A (p.Ala544Asp)
c.1490C>A (p.Ala497Asp)
c.1475C>A (p.Ala492Asp)
c.1334C>A (p.Ala445Asp)
c.1145C>A (p.Ala382Asp)
c.1130C>A (p.Ala377Asp)
c.635C>A (p.Ala212Asp)
c.446C>A (p.Ala149Asp)
10g.86716522C=CA1925631915LDB3n.515-2205C=
c.1238C= (p.Ala413=)
c.1286C= (p.Ala429=)
c.1427C= (p.Ala476=)
c.1097C= (p.Ala366=)
c.1442C= (p.Ala481=)
c.1679C= (p.Ala560=)
c.1631C= (p.Ala544=)
c.1490C= (p.Ala497=)
c.1475C= (p.Ala492=)
c.1334C= (p.Ala445=)
c.1145C= (p.Ala382=)
c.1130C= (p.Ala377=)
c.635C= (p.Ala212=)
c.446C= (p.Ala149=)
10g.86716522C>GCA377450594LDB3n.515-2205C>G
c.1238C>G (p.Ala413Gly)
c.1286C>G (p.Ala429Gly)
c.1427C>G (p.Ala476Gly)
c.1097C>G (p.Ala366Gly)
c.1442C>G (p.Ala481Gly)
c.1679C>G (p.Ala560Gly)
c.1631C>G (p.Ala544Gly)
c.1490C>G (p.Ala497Gly)
c.1475C>G (p.Ala492Gly)
c.1334C>G (p.Ala445Gly)
c.1145C>G (p.Ala382Gly)
c.1130C>G (p.Ala377Gly)
c.635C>G (p.Ala212Gly)
c.446C>G (p.Ala149Gly)
10g.86716522C>TCA5585158LDB3n.515-2205C>T
c.1238C>T (p.Ala413Val)
c.1286C>T (p.Ala429Val)
c.1427C>T (p.Ala476Val)
c.1097C>T (p.Ala366Val)
c.1442C>T (p.Ala481Val)
c.1679C>T (p.Ala560Val)
c.1631C>T (p.Ala544Val)
c.1490C>T (p.Ala497Val)
c.1475C>T (p.Ala492Val)
c.1334C>T (p.Ala445Val)
c.1145C>T (p.Ala382Val)
c.1130C>T (p.Ala377Val)
c.635C>T (p.Ala212Val)
c.446C>T (p.Ala149Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716523C>ACA470375273LDB3n.515-2204C>A
c.1239C>A (p.Ala413=)
c.1287C>A (p.Ala429=)
c.1428C>A (p.Ala476=)
c.1098C>A (p.Ala366=)
c.1443C>A (p.Ala481=)
c.1680C>A (p.Ala560=)
c.1632C>A (p.Ala544=)
c.1491C>A (p.Ala497=)
c.1476C>A (p.Ala492=)
c.1335C>A (p.Ala445=)
c.1146C>A (p.Ala382=)
c.1131C>A (p.Ala377=)
c.636C>A (p.Ala212=)
c.447C>A (p.Ala149=)
10g.86716523C>GCA470375275LDB3n.515-2204C>G
c.1239C>G (p.Ala413=)
c.1287C>G (p.Ala429=)
c.1428C>G (p.Ala476=)
c.1098C>G (p.Ala366=)
c.1443C>G (p.Ala481=)
c.1680C>G (p.Ala560=)
c.1632C>G (p.Ala544=)
c.1491C>G (p.Ala497=)
c.1476C>G (p.Ala492=)
c.1335C>G (p.Ala445=)
c.1146C>G (p.Ala382=)
c.1131C>G (p.Ala377=)
c.636C>G (p.Ala212=)
c.447C>G (p.Ala149=)
10g.86716523C>TCA470375277LDB3n.515-2204C>T
c.1239C>T (p.Ala413=)
c.1287C>T (p.Ala429=)
c.1428C>T (p.Ala476=)
c.1098C>T (p.Ala366=)
c.1443C>T (p.Ala481=)
c.1680C>T (p.Ala560=)
c.1632C>T (p.Ala544=)
c.1491C>T (p.Ala497=)
c.1476C>T (p.Ala492=)
c.1335C>T (p.Ala445=)
c.1146C>T (p.Ala382=)
c.1131C>T (p.Ala377=)
c.636C>T (p.Ala212=)
c.447C>T (p.Ala149=)
 gnomAD v4
10g.86716524T>ACA377450599LDB3n.515-2203T>A
c.1240T>A (p.Tyr414Asn)
c.1288T>A (p.Tyr430Asn)
c.1429T>A (p.Tyr477Asn)
c.1099T>A (p.Tyr367Asn)
c.1444T>A (p.Tyr482Asn)
c.1681T>A (p.Tyr561Asn)
c.1633T>A (p.Tyr545Asn)
c.1492T>A (p.Tyr498Asn)
c.1477T>A (p.Tyr493Asn)
c.1336T>A (p.Tyr446Asn)
c.1147T>A (p.Tyr383Asn)
c.1132T>A (p.Tyr378Asn)
c.637T>A (p.Tyr213Asn)
c.448T>A (p.Tyr150Asn)
 gnomAD v4
10g.86716524T>CCA377450603LDB3n.515-2203T>C
c.1240T>C (p.Tyr414His)
c.1288T>C (p.Tyr430His)
c.1429T>C (p.Tyr477His)
c.1099T>C (p.Tyr367His)
c.1444T>C (p.Tyr482His)
c.1681T>C (p.Tyr561His)
c.1633T>C (p.Tyr545His)
c.1492T>C (p.Tyr498His)
c.1477T>C (p.Tyr493His)
c.1336T>C (p.Tyr446His)
c.1147T>C (p.Tyr383His)
c.1132T>C (p.Tyr378His)
c.637T>C (p.Tyr213His)
c.448T>C (p.Tyr150His)
10g.86716524T>GCA377450606LDB3n.515-2203T>G
c.1240T>G (p.Tyr414Asp)
c.1288T>G (p.Tyr430Asp)
c.1429T>G (p.Tyr477Asp)
c.1099T>G (p.Tyr367Asp)
c.1444T>G (p.Tyr482Asp)
c.1681T>G (p.Tyr561Asp)
c.1633T>G (p.Tyr545Asp)
c.1492T>G (p.Tyr498Asp)
c.1477T>G (p.Tyr493Asp)
c.1336T>G (p.Tyr446Asp)
c.1147T>G (p.Tyr383Asp)
c.1132T>G (p.Tyr378Asp)
c.637T>G (p.Tyr213Asp)
c.448T>G (p.Tyr150Asp)
10g.86716525A=CA1925631916LDB3n.515-2202A=
c.1241A= (p.Tyr414=)
c.1289A= (p.Tyr430=)
c.1430A= (p.Tyr477=)
c.1100A= (p.Tyr367=)
c.1445A= (p.Tyr482=)
c.1682A= (p.Tyr561=)
c.1634A= (p.Tyr545=)
c.1493A= (p.Tyr498=)
c.1478A= (p.Tyr493=)
c.1337A= (p.Tyr446=)
c.1148A= (p.Tyr383=)
c.1133A= (p.Tyr378=)
c.638A= (p.Tyr213=)
c.449A= (p.Tyr150=)
10g.86716525A>CCA377450613LDB3n.515-2202A>C
c.1241A>C (p.Tyr414Ser)
c.1289A>C (p.Tyr430Ser)
c.1430A>C (p.Tyr477Ser)
c.1100A>C (p.Tyr367Ser)
c.1445A>C (p.Tyr482Ser)
c.1682A>C (p.Tyr561Ser)
c.1634A>C (p.Tyr545Ser)
c.1493A>C (p.Tyr498Ser)
c.1478A>C (p.Tyr493Ser)
c.1337A>C (p.Tyr446Ser)
c.1148A>C (p.Tyr383Ser)
c.1133A>C (p.Tyr378Ser)
c.638A>C (p.Tyr213Ser)
c.449A>C (p.Tyr150Ser)
10g.86716525A>GCA5585159LDB3n.515-2202A>G
c.1241A>G (p.Tyr414Cys)
c.1289A>G (p.Tyr430Cys)
c.1430A>G (p.Tyr477Cys)
c.1100A>G (p.Tyr367Cys)
c.1445A>G (p.Tyr482Cys)
c.1682A>G (p.Tyr561Cys)
c.1634A>G (p.Tyr545Cys)
c.1493A>G (p.Tyr498Cys)
c.1478A>G (p.Tyr493Cys)
c.1337A>G (p.Tyr446Cys)
c.1148A>G (p.Tyr383Cys)
c.1133A>G (p.Tyr378Cys)
c.638A>G (p.Tyr213Cys)
c.449A>G (p.Tyr150Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716525A>TCA377450618LDB3n.515-2202A>T
c.1241A>T (p.Tyr414Phe)
c.1289A>T (p.Tyr430Phe)
c.1430A>T (p.Tyr477Phe)
c.1100A>T (p.Tyr367Phe)
c.1445A>T (p.Tyr482Phe)
c.1682A>T (p.Tyr561Phe)
c.1634A>T (p.Tyr545Phe)
c.1493A>T (p.Tyr498Phe)
c.1478A>T (p.Tyr493Phe)
c.1337A>T (p.Tyr446Phe)
c.1148A>T (p.Tyr383Phe)
c.1133A>T (p.Tyr378Phe)
c.638A>T (p.Tyr213Phe)
c.449A>T (p.Tyr150Phe)
10g.86716526C>ACA377450624LDB3n.515-2201C>A
c.1242C>A (p.Tyr414Ter)
c.1290C>A (p.Tyr430Ter)
c.1431C>A (p.Tyr477Ter)
c.1101C>A (p.Tyr367Ter)
c.1446C>A (p.Tyr482Ter)
c.1683C>A (p.Tyr561Ter)
c.1635C>A (p.Tyr545Ter)
c.1494C>A (p.Tyr498Ter)
c.1479C>A (p.Tyr493Ter)
c.1338C>A (p.Tyr446Ter)
c.1149C>A (p.Tyr383Ter)
c.1134C>A (p.Tyr378Ter)
c.639C>A (p.Tyr213Ter)
c.450C>A (p.Tyr150Ter)
10g.86716526C>GCA377450621LDB3n.515-2201C>G
c.1242C>G (p.Tyr414Ter)
c.1290C>G (p.Tyr430Ter)
c.1431C>G (p.Tyr477Ter)
c.1101C>G (p.Tyr367Ter)
c.1446C>G (p.Tyr482Ter)
c.1683C>G (p.Tyr561Ter)
c.1635C>G (p.Tyr545Ter)
c.1494C>G (p.Tyr498Ter)
c.1479C>G (p.Tyr493Ter)
c.1338C>G (p.Tyr446Ter)
c.1149C>G (p.Tyr383Ter)
c.1134C>G (p.Tyr378Ter)
c.639C>G (p.Tyr213Ter)
c.450C>G (p.Tyr150Ter)
10g.86716526C>TCA470375291LDB3n.515-2201C>T
c.1242C>T (p.Tyr414=)
c.1290C>T (p.Tyr430=)
c.1431C>T (p.Tyr477=)
c.1101C>T (p.Tyr367=)
c.1446C>T (p.Tyr482=)
c.1683C>T (p.Tyr561=)
c.1635C>T (p.Tyr545=)
c.1494C>T (p.Tyr498=)
c.1479C>T (p.Tyr493=)
c.1338C>T (p.Tyr446=)
c.1149C>T (p.Tyr383=)
c.1134C>T (p.Tyr378=)
c.639C>T (p.Tyr213=)
c.450C>T (p.Tyr150=)
10g.86716527A=CA1925631917LDB3n.515-2200A=
c.1243A= (p.Ser415=)
c.1291A= (p.Ser431=)
c.1432A= (p.Ser478=)
c.1102A= (p.Ser368=)
c.1447A= (p.Ser483=)
c.1684A= (p.Ser562=)
c.1636A= (p.Ser546=)
c.1495A= (p.Ser499=)
c.1480A= (p.Ser494=)
c.1339A= (p.Ser447=)
c.1150A= (p.Ser384=)
c.1135A= (p.Ser379=)
c.640A= (p.Ser214=)
c.451A= (p.Ser151=)
10g.86716527A>CCA377450627LDB3n.515-2200A>C
c.1243A>C (p.Ser415Arg)
c.1291A>C (p.Ser431Arg)
c.1432A>C (p.Ser478Arg)
c.1102A>C (p.Ser368Arg)
c.1447A>C (p.Ser483Arg)
c.1684A>C (p.Ser562Arg)
c.1636A>C (p.Ser546Arg)
c.1495A>C (p.Ser499Arg)
c.1480A>C (p.Ser494Arg)
c.1339A>C (p.Ser447Arg)
c.1150A>C (p.Ser384Arg)
c.1135A>C (p.Ser379Arg)
c.640A>C (p.Ser214Arg)
c.451A>C (p.Ser151Arg)
10g.86716527A>GCA377450629LDB3n.515-2200A>G
c.1243A>G (p.Ser415Gly)
c.1291A>G (p.Ser431Gly)
c.1432A>G (p.Ser478Gly)
c.1102A>G (p.Ser368Gly)
c.1447A>G (p.Ser483Gly)
c.1684A>G (p.Ser562Gly)
c.1636A>G (p.Ser546Gly)
c.1495A>G (p.Ser499Gly)
c.1480A>G (p.Ser494Gly)
c.1339A>G (p.Ser447Gly)
c.1150A>G (p.Ser384Gly)
c.1135A>G (p.Ser379Gly)
c.640A>G (p.Ser214Gly)
c.451A>G (p.Ser151Gly)
10g.86716527A>TCA377450632LDB3n.515-2200A>T
c.1243A>T (p.Ser415Cys)
c.1291A>T (p.Ser431Cys)
c.1432A>T (p.Ser478Cys)
c.1102A>T (p.Ser368Cys)
c.1447A>T (p.Ser483Cys)
c.1684A>T (p.Ser562Cys)
c.1636A>T (p.Ser546Cys)
c.1495A>T (p.Ser499Cys)
c.1480A>T (p.Ser494Cys)
c.1339A>T (p.Ser447Cys)
c.1150A>T (p.Ser384Cys)
c.1135A>T (p.Ser379Cys)
c.640A>T (p.Ser214Cys)
c.451A>T (p.Ser151Cys)
 dbSNP gnomAD v3 gnomAD v4
10g.86716528G>ACA377450633LDB3n.515-2199G>A
c.1244G>A (p.Ser415Asn)
c.1292G>A (p.Ser431Asn)
c.1433G>A (p.Ser478Asn)
c.1103G>A (p.Ser368Asn)
c.1448G>A (p.Ser483Asn)
c.1685G>A (p.Ser562Asn)
c.1637G>A (p.Ser546Asn)
c.1496G>A (p.Ser499Asn)
c.1481G>A (p.Ser494Asn)
c.1340G>A (p.Ser447Asn)
c.1151G>A (p.Ser384Asn)
c.1136G>A (p.Ser379Asn)
c.641G>A (p.Ser214Asn)
c.452G>A (p.Ser151Asn)
10g.86716528G>CCA377450635LDB3n.515-2199G>C
c.1244G>C (p.Ser415Thr)
c.1292G>C (p.Ser431Thr)
c.1433G>C (p.Ser478Thr)
c.1103G>C (p.Ser368Thr)
c.1448G>C (p.Ser483Thr)
c.1685G>C (p.Ser562Thr)
c.1637G>C (p.Ser546Thr)
c.1496G>C (p.Ser499Thr)
c.1481G>C (p.Ser494Thr)
c.1340G>C (p.Ser447Thr)
c.1151G>C (p.Ser384Thr)
c.1136G>C (p.Ser379Thr)
c.641G>C (p.Ser214Thr)
c.452G>C (p.Ser151Thr)
10g.86716528G>TCA377450644LDB3n.515-2199G>T
c.1244G>T (p.Ser415Ile)
c.1292G>T (p.Ser431Ile)
c.1433G>T (p.Ser478Ile)
c.1103G>T (p.Ser368Ile)
c.1448G>T (p.Ser483Ile)
c.1685G>T (p.Ser562Ile)
c.1637G>T (p.Ser546Ile)
c.1496G>T (p.Ser499Ile)
c.1481G>T (p.Ser494Ile)
c.1340G>T (p.Ser447Ile)
c.1151G>T (p.Ser384Ile)
c.1136G>T (p.Ser379Ile)
c.641G>T (p.Ser214Ile)
c.452G>T (p.Ser151Ile)
10g.86716529C>ACA377450648LDB3n.515-2198C>A
c.1245C>A (p.Ser415Arg)
c.1293C>A (p.Ser431Arg)
c.1434C>A (p.Ser478Arg)
c.1104C>A (p.Ser368Arg)
c.1449C>A (p.Ser483Arg)
c.1686C>A (p.Ser562Arg)
c.1638C>A (p.Ser546Arg)
c.1497C>A (p.Ser499Arg)
c.1482C>A (p.Ser494Arg)
c.1341C>A (p.Ser447Arg)
c.1152C>A (p.Ser384Arg)
c.1137C>A (p.Ser379Arg)
c.642C>A (p.Ser214Arg)
c.453C>A (p.Ser151Arg)
10g.86716529C=CA1925631918LDB3n.515-2198C=
c.1245C= (p.Ser415=)
c.1293C= (p.Ser431=)
c.1434C= (p.Ser478=)
c.1104C= (p.Ser368=)
c.1449C= (p.Ser483=)
c.1686C= (p.Ser562=)
c.1638C= (p.Ser546=)
c.1497C= (p.Ser499=)
c.1482C= (p.Ser494=)
c.1341C= (p.Ser447=)
c.1152C= (p.Ser384=)
c.1137C= (p.Ser379=)
c.642C= (p.Ser214=)
c.453C= (p.Ser151=)
10g.86716529C>GCA377450647LDB3n.515-2198C>G
c.1245C>G (p.Ser415Arg)
c.1293C>G (p.Ser431Arg)
c.1434C>G (p.Ser478Arg)
c.1104C>G (p.Ser368Arg)
c.1449C>G (p.Ser483Arg)
c.1686C>G (p.Ser562Arg)
c.1638C>G (p.Ser546Arg)
c.1497C>G (p.Ser499Arg)
c.1482C>G (p.Ser494Arg)
c.1341C>G (p.Ser447Arg)
c.1152C>G (p.Ser384Arg)
c.1137C>G (p.Ser379Arg)
c.642C>G (p.Ser214Arg)
c.453C>G (p.Ser151Arg)
10g.86716529C>TCA470375302LDB3n.515-2198C>T
c.1245C>T (p.Ser415=)
c.1293C>T (p.Ser431=)
c.1434C>T (p.Ser478=)
c.1104C>T (p.Ser368=)
c.1449C>T (p.Ser483=)
c.1686C>T (p.Ser562=)
c.1638C>T (p.Ser546=)
c.1497C>T (p.Ser499=)
c.1482C>T (p.Ser494=)
c.1341C>T (p.Ser447=)
c.1152C>T (p.Ser384=)
c.1137C>T (p.Ser379=)
c.642C>T (p.Ser214=)
c.453C>T (p.Ser151=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.86716530G>ACA5585160LDB3n.515-2197G>A
c.1246G>A (p.Gly416Arg)
c.1294G>A (p.Gly432Arg)
c.1435G>A (p.Gly479Arg)
c.1105G>A (p.Gly369Arg)
c.1450G>A (p.Gly484Arg)
c.1687G>A (p.Gly563Arg)
c.1639G>A (p.Gly547Arg)
c.1498G>A (p.Gly500Arg)
c.1483G>A (p.Gly495Arg)
c.1342G>A (p.Gly448Arg)
c.1153G>A (p.Gly385Arg)
c.1138G>A (p.Gly380Arg)
c.643G>A (p.Gly215Arg)
c.454G>A (p.Gly152Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716530G>CCA377450654LDB3n.515-2197G>C
c.1246G>C (p.Gly416Arg)
c.1294G>C (p.Gly432Arg)
c.1435G>C (p.Gly479Arg)
c.1105G>C (p.Gly369Arg)
c.1450G>C (p.Gly484Arg)
c.1687G>C (p.Gly563Arg)
c.1639G>C (p.Gly547Arg)
c.1498G>C (p.Gly500Arg)
c.1483G>C (p.Gly495Arg)
c.1342G>C (p.Gly448Arg)
c.1153G>C (p.Gly385Arg)
c.1138G>C (p.Gly380Arg)
c.643G>C (p.Gly215Arg)
c.454G>C (p.Gly152Arg)
10g.86716530G=CA1925631919LDB3n.515-2197G=
c.1246G= (p.Gly416=)
c.1294G= (p.Gly432=)
c.1435G= (p.Gly479=)
c.1105G= (p.Gly369=)
c.1450G= (p.Gly484=)
c.1687G= (p.Gly563=)
c.1639G= (p.Gly547=)
c.1498G= (p.Gly500=)
c.1483G= (p.Gly495=)
c.1342G= (p.Gly448=)
c.1153G= (p.Gly385=)
c.1138G= (p.Gly380=)
c.643G= (p.Gly215=)
c.454G= (p.Gly152=)
10g.86716530G>TCA377450656LDB3n.515-2197G>T
c.1246G>T (p.Gly416Trp)
c.1294G>T (p.Gly432Trp)
c.1435G>T (p.Gly479Trp)
c.1105G>T (p.Gly369Trp)
c.1450G>T (p.Gly484Trp)
c.1687G>T (p.Gly563Trp)
c.1639G>T (p.Gly547Trp)
c.1498G>T (p.Gly500Trp)
c.1483G>T (p.Gly495Trp)
c.1342G>T (p.Gly448Trp)
c.1153G>T (p.Gly385Trp)
c.1138G>T (p.Gly380Trp)
c.643G>T (p.Gly215Trp)
c.454G>T (p.Gly152Trp)
 gnomAD v4
10g.86716534dupCA2573145665LDB3n.515-2193dup
c.1250dup (p.Ala419CysfsTer13)
c.1298dup (p.Ala435CysfsTer13)
c.1439dup (p.Ala482CysfsTer13)
c.1109dup (p.Ala372CysfsTer13)
c.1454dup (p.Ala487CysfsTer13)
c.1691dup (p.Ala566CysfsTer13)
c.1643dup (p.Ala550CysfsTer13)
c.1502dup (p.Ala503CysfsTer13)
c.1487dup (p.Ala498CysfsTer13)
c.1346dup (p.Ala451CysfsTer13)
c.1157dup (p.Ala388CysfsTer13)
c.1142dup (p.Ala383CysfsTer13)
c.647dup (p.Ala218CysfsTer13)
c.458dup (p.Ala155CysfsTer13)
 ClinVar dbSNP
10g.86716534delCA2574457112LDB3n.515-2193del
c.1250del (p.Gly417AlafsTer12)
c.1298del (p.Gly433AlafsTer12)
c.1439del (p.Gly480AlafsTer12)
c.1109del (p.Gly370AlafsTer12)
c.1454del (p.Gly485AlafsTer12)
c.1691del (p.Gly564AlafsTer12)
c.1643del (p.Gly548AlafsTer12)
c.1502del (p.Gly501AlafsTer12)
c.1487del (p.Gly496AlafsTer12)
c.1346del (p.Gly449AlafsTer12)
c.1157del (p.Gly386AlafsTer12)
c.1142del (p.Gly381AlafsTer12)
c.647del (p.Gly216AlafsTer12)
c.458del (p.Gly153AlafsTer12)
10g.86716531G>ACA377450662LDB3n.515-2196G>A
c.1247G>A (p.Gly416Glu)
c.1295G>A (p.Gly432Glu)
c.1436G>A (p.Gly479Glu)
c.1106G>A (p.Gly369Glu)
c.1451G>A (p.Gly484Glu)
c.1688G>A (p.Gly563Glu)
c.1640G>A (p.Gly547Glu)
c.1499G>A (p.Gly500Glu)
c.1484G>A (p.Gly495Glu)
c.1343G>A (p.Gly448Glu)
c.1154G>A (p.Gly385Glu)
c.1139G>A (p.Gly380Glu)
c.644G>A (p.Gly215Glu)
c.455G>A (p.Gly152Glu)
 COSMIC COSMIC COSMIC
10g.86716531G>CCA377450670LDB3n.515-2196G>C
c.1247G>C (p.Gly416Ala)
c.1295G>C (p.Gly432Ala)
c.1436G>C (p.Gly479Ala)
c.1106G>C (p.Gly369Ala)
c.1451G>C (p.Gly484Ala)
c.1688G>C (p.Gly563Ala)
c.1640G>C (p.Gly547Ala)
c.1499G>C (p.Gly500Ala)
c.1484G>C (p.Gly495Ala)
c.1343G>C (p.Gly448Ala)
c.1154G>C (p.Gly385Ala)
c.1139G>C (p.Gly380Ala)
c.644G>C (p.Gly215Ala)
c.455G>C (p.Gly152Ala)
10g.86716531G>TCA377450673LDB3n.515-2196G>T
c.1247G>T (p.Gly416Val)
c.1295G>T (p.Gly432Val)
c.1436G>T (p.Gly479Val)
c.1106G>T (p.Gly369Val)
c.1451G>T (p.Gly484Val)
c.1688G>T (p.Gly563Val)
c.1640G>T (p.Gly547Val)
c.1499G>T (p.Gly500Val)
c.1484G>T (p.Gly495Val)
c.1343G>T (p.Gly448Val)
c.1154G>T (p.Gly385Val)
c.1139G>T (p.Gly380Val)
c.644G>T (p.Gly215Val)
c.455G>T (p.Gly152Val)
 gnomAD v4
10g.86716532G>ACA470375313LDB3n.515-2195G>A
c.1248G>A (p.Gly416=)
c.1296G>A (p.Gly432=)
c.1437G>A (p.Gly479=)
c.1107G>A (p.Gly369=)
c.1452G>A (p.Gly484=)
c.1689G>A (p.Gly563=)
c.1641G>A (p.Gly547=)
c.1500G>A (p.Gly500=)
c.1485G>A (p.Gly495=)
c.1344G>A (p.Gly448=)
c.1155G>A (p.Gly385=)
c.1140G>A (p.Gly380=)
c.645G>A (p.Gly215=)
c.456G>A (p.Gly152=)
10g.86716532G>CCA16605698LDB3n.515-2195G>C
c.1248G>C (p.Gly416=)
c.1296G>C (p.Gly432=)
c.1437G>C (p.Gly479=)
c.1107G>C (p.Gly369=)
c.1452G>C (p.Gly484=)
c.1689G>C (p.Gly563=)
c.1641G>C (p.Gly547=)
c.1500G>C (p.Gly500=)
c.1485G>C (p.Gly495=)
c.1344G>C (p.Gly448=)
c.1155G>C (p.Gly385=)
c.1140G>C (p.Gly380=)
c.645G>C (p.Gly215=)
c.456G>C (p.Gly152=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.86716532G=CA1925631920LDB3n.515-2195G=
c.1248G= (p.Gly416=)
c.1296G= (p.Gly432=)
c.1437G= (p.Gly479=)
c.1107G= (p.Gly369=)
c.1452G= (p.Gly484=)
c.1689G= (p.Gly563=)
c.1641G= (p.Gly547=)
c.1500G= (p.Gly500=)
c.1485G= (p.Gly495=)
c.1344G= (p.Gly448=)
c.1155G= (p.Gly385=)
c.1140G= (p.Gly380=)
c.645G= (p.Gly215=)
c.456G= (p.Gly152=)
10g.86716532G>TCA470375317LDB3n.515-2195G>T
c.1248G>T (p.Gly416=)
c.1296G>T (p.Gly432=)
c.1437G>T (p.Gly479=)
c.1107G>T (p.Gly369=)
c.1452G>T (p.Gly484=)
c.1689G>T (p.Gly563=)
c.1641G>T (p.Gly547=)
c.1500G>T (p.Gly500=)
c.1485G>T (p.Gly495=)
c.1344G>T (p.Gly448=)
c.1155G>T (p.Gly385=)
c.1140G>T (p.Gly380=)
c.645G>T (p.Gly215=)
c.456G>T (p.Gly152=)
 gnomAD v4
10g.86716533G>ACA5585161LDB3n.515-2194G>A
c.1249G>A (p.Gly417Ser)
c.1297G>A (p.Gly433Ser)
c.1438G>A (p.Gly480Ser)
c.1108G>A (p.Gly370Ser)
c.1453G>A (p.Gly485Ser)
c.1690G>A (p.Gly564Ser)
c.1642G>A (p.Gly548Ser)
c.1501G>A (p.Gly501Ser)
c.1486G>A (p.Gly496Ser)
c.1345G>A (p.Gly449Ser)
c.1156G>A (p.Gly386Ser)
c.1141G>A (p.Gly381Ser)
c.646G>A (p.Gly216Ser)
c.457G>A (p.Gly153Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716533G>CCA377450683LDB3n.515-2194G>C
c.1249G>C (p.Gly417Arg)
c.1297G>C (p.Gly433Arg)
c.1438G>C (p.Gly480Arg)
c.1108G>C (p.Gly370Arg)
c.1453G>C (p.Gly485Arg)
c.1690G>C (p.Gly564Arg)
c.1642G>C (p.Gly548Arg)
c.1501G>C (p.Gly501Arg)
c.1486G>C (p.Gly496Arg)
c.1345G>C (p.Gly449Arg)
c.1156G>C (p.Gly386Arg)
c.1141G>C (p.Gly381Arg)
c.646G>C (p.Gly216Arg)
c.457G>C (p.Gly153Arg)
10g.86716533G=CA1925631921LDB3n.515-2194G=
c.1249G= (p.Gly417=)
c.1297G= (p.Gly433=)
c.1438G= (p.Gly480=)
c.1108G= (p.Gly370=)
c.1453G= (p.Gly485=)
c.1690G= (p.Gly564=)
c.1642G= (p.Gly548=)
c.1501G= (p.Gly501=)
c.1486G= (p.Gly496=)
c.1345G= (p.Gly449=)
c.1156G= (p.Gly386=)
c.1141G= (p.Gly381=)
c.646G= (p.Gly216=)
c.457G= (p.Gly153=)
10g.86716533G>TCA377450680LDB3n.515-2194G>T
c.1249G>T (p.Gly417Cys)
c.1297G>T (p.Gly433Cys)
c.1438G>T (p.Gly480Cys)
c.1108G>T (p.Gly370Cys)
c.1453G>T (p.Gly485Cys)
c.1690G>T (p.Gly564Cys)
c.1642G>T (p.Gly548Cys)
c.1501G>T (p.Gly501Cys)
c.1486G>T (p.Gly496Cys)
c.1345G>T (p.Gly449Cys)
c.1156G>T (p.Gly386Cys)
c.1141G>T (p.Gly381Cys)
c.646G>T (p.Gly216Cys)
c.457G>T (p.Gly153Cys)
 gnomAD v4
10g.86716534G>ACA5585162LDB3n.515-2193G>A
c.1250G>A (p.Gly417Asp)
c.1298G>A (p.Gly433Asp)
c.1439G>A (p.Gly480Asp)
c.1109G>A (p.Gly370Asp)
c.1454G>A (p.Gly485Asp)
c.1691G>A (p.Gly564Asp)
c.1643G>A (p.Gly548Asp)
c.1502G>A (p.Gly501Asp)
c.1487G>A (p.Gly496Asp)
c.1346G>A (p.Gly449Asp)
c.1157G>A (p.Gly386Asp)
c.1142G>A (p.Gly381Asp)
c.647G>A (p.Gly216Asp)
c.458G>A (p.Gly153Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.86716534G>CCA377450690LDB3n.515-2193G>C
c.1250G>C (p.Gly417Ala)
c.1298G>C (p.Gly433Ala)
c.1439G>C (p.Gly480Ala)
c.1109G>C (p.Gly370Ala)
c.1454G>C (p.Gly485Ala)
c.1691G>C (p.Gly564Ala)
c.1643G>C (p.Gly548Ala)
c.1502G>C (p.Gly501Ala)
c.1487G>C (p.Gly496Ala)
c.1346G>C (p.Gly449Ala)
c.1157G>C (p.Gly386Ala)
c.1142G>C (p.Gly381Ala)
c.647G>C (p.Gly216Ala)
c.458G>C (p.Gly153Ala)
10g.86716534G=CA1925631922LDB3n.515-2193G=
c.1250G= (p.Gly417=)
c.1298G= (p.Gly433=)
c.1439G= (p.Gly480=)
c.1109G= (p.Gly370=)
c.1454G= (p.Gly485=)
c.1691G= (p.Gly564=)
c.1643G= (p.Gly548=)
c.1502G= (p.Gly501=)
c.1487G= (p.Gly496=)
c.1346G= (p.Gly449=)
c.1157G= (p.Gly386=)
c.1142G= (p.Gly381=)
c.647G= (p.Gly216=)
c.458G= (p.Gly153=)
10g.86716534G>TCA377450694LDB3n.515-2193G>T
c.1250G>T (p.Gly417Val)
c.1298G>T (p.Gly433Val)
c.1439G>T (p.Gly480Val)
c.1109G>T (p.Gly370Val)
c.1454G>T (p.Gly485Val)
c.1691G>T (p.Gly564Val)
c.1643G>T (p.Gly548Val)
c.1502G>T (p.Gly501Val)
c.1487G>T (p.Gly496Val)
c.1346G>T (p.Gly449Val)
c.1157G>T (p.Gly386Val)
c.1142G>T (p.Gly381Val)
c.647G>T (p.Gly216Val)
c.458G>T (p.Gly153Val)
10g.86716535C>ACA470375327LDB3n.515-2192C>A
c.1251C>A (p.Gly417=)
c.1299C>A (p.Gly433=)
c.1440C>A (p.Gly480=)
c.1110C>A (p.Gly370=)
c.1455C>A (p.Gly485=)
c.1692C>A (p.Gly564=)
c.1644C>A (p.Gly548=)
c.1503C>A (p.Gly501=)
c.1488C>A (p.Gly496=)
c.1347C>A (p.Gly449=)
c.1158C>A (p.Gly386=)
c.1143C>A (p.Gly381=)
c.648C>A (p.Gly216=)
c.459C>A (p.Gly153=)
10g.86716535C>GCA470375329LDB3n.515-2192C>G
c.1251C>G (p.Gly417=)
c.1299C>G (p.Gly433=)
c.1440C>G (p.Gly480=)
c.1110C>G (p.Gly370=)
c.1455C>G (p.Gly485=)
c.1692C>G (p.Gly564=)
c.1644C>G (p.Gly548=)
c.1503C>G (p.Gly501=)
c.1488C>G (p.Gly496=)
c.1347C>G (p.Gly449=)
c.1158C>G (p.Gly386=)
c.1143C>G (p.Gly381=)
c.648C>G (p.Gly216=)
c.459C>G (p.Gly153=)
10g.86716535C>TCA470375331LDB3n.515-2192C>T
c.1251C>T (p.Gly417=)
c.1299C>T (p.Gly433=)
c.1440C>T (p.Gly480=)
c.1110C>T (p.Gly370=)
c.1455C>T (p.Gly485=)
c.1692C>T (p.Gly564=)
c.1644C>T (p.Gly548=)
c.1503C>T (p.Gly501=)
c.1488C>T (p.Gly496=)
c.1347C>T (p.Gly449=)
c.1158C>T (p.Gly386=)
c.1143C>T (p.Gly381=)
c.648C>T (p.Gly216=)
c.459C>T (p.Gly153=)
10g.86716535_86716544delinsCCCTGCGGAGCA1925631923LDB3n.515-2192_515-2183delinsCCCTGCGGAG
c.1251_1260delinsCCCTGCGGAG (p.Gly417=)
c.1299_1308delinsCCCTGCGGAG (p.Gly433=)
c.1440_1449delinsCCCTGCGGAG (p.Gly480=)
c.1110_1119delinsCCCTGCGGAG (p.Gly370=)
c.1455_1464delinsCCCTGCGGAG (p.Gly485=)
c.1692_1701delinsCCCTGCGGAG (p.Gly564=)
c.1644_1653delinsCCCTGCGGAG (p.Gly548=)
c.1503_1512delinsCCCTGCGGAG (p.Gly501=)
c.1488_1497delinsCCCTGCGGAG (p.Gly496=)
c.1347_1356delinsCCCTGCGGAG (p.Gly449=)
c.1158_1167delinsCCCTGCGGAG (p.Gly386=)
c.1143_1152delinsCCCTGCGGAG (p.Gly381=)
c.648_657delinsCCCTGCGGAG (p.Gly216=)
c.459_468delinsCCCTGCGGAG (p.Gly153=)
10g.86716536C>ACA377450702LDB3n.515-2191C>A
c.1252C>A (p.Pro418Thr)
c.1300C>A (p.Pro434Thr)
c.1441C>A (p.Pro481Thr)
c.1111C>A (p.Pro371Thr)
c.1456C>A (p.Pro486Thr)
c.1693C>A (p.Pro565Thr)
c.1645C>A (p.Pro549Thr)
c.1504C>A (p.Pro502Thr)
c.1489C>A (p.Pro497Thr)
c.1348C>A (p.Pro450Thr)
c.1159C>A (p.Pro387Thr)
c.1144C>A (p.Pro382Thr)
c.649C>A (p.Pro217Thr)
c.460C>A (p.Pro154Thr)
10g.86716536C=CA1925631924LDB3n.515-2191C=
c.1252C= (p.Pro418=)
c.1300C= (p.Pro434=)
c.1441C= (p.Pro481=)
c.1111C= (p.Pro371=)
c.1456C= (p.Pro486=)
c.1693C= (p.Pro565=)
c.1645C= (p.Pro549=)
c.1504C= (p.Pro502=)
c.1489C= (p.Pro497=)
c.1348C= (p.Pro450=)
c.1159C= (p.Pro387=)
c.1144C= (p.Pro382=)
c.649C= (p.Pro217=)
c.460C= (p.Pro154=)
10g.86716536C>GCA377450704LDB3n.515-2191C>G
c.1252C>G (p.Pro418Ala)
c.1300C>G (p.Pro434Ala)
c.1441C>G (p.Pro481Ala)
c.1111C>G (p.Pro371Ala)
c.1456C>G (p.Pro486Ala)
c.1693C>G (p.Pro565Ala)
c.1645C>G (p.Pro549Ala)
c.1504C>G (p.Pro502Ala)
c.1489C>G (p.Pro497Ala)
c.1348C>G (p.Pro450Ala)
c.1159C>G (p.Pro387Ala)
c.1144C>G (p.Pro382Ala)
c.649C>G (p.Pro217Ala)
c.460C>G (p.Pro154Ala)
10g.86716536C>TCA211205363LDB3n.515-2191C>T
c.1252C>T (p.Pro418Ser)
c.1300C>T (p.Pro434Ser)
c.1441C>T (p.Pro481Ser)
c.1111C>T (p.Pro371Ser)
c.1456C>T (p.Pro486Ser)
c.1693C>T (p.Pro565Ser)
c.1645C>T (p.Pro549Ser)
c.1504C>T (p.Pro502Ser)
c.1489C>T (p.Pro497Ser)
c.1348C>T (p.Pro450Ser)
c.1159C>T (p.Pro387Ser)
c.1144C>T (p.Pro382Ser)
c.649C>T (p.Pro217Ser)
c.460C>T (p.Pro154Ser)
 dbSNP
10g.86716541_86716549delCA669471224LDB3n.515-2186_515-2178del
c.1257_1265del (p.Glu420_Ala422del)
c.1305_1313del (p.Glu436_Ala438del)
c.1446_1454del (p.Glu483_Ala485del)
c.1116_1124del (p.Glu373_Ala375del)
c.1461_1469del (p.Glu488_Ala490del)
c.1698_1706del (p.Glu567_Ala569del)
c.1650_1658del (p.Glu551_Ala553del)
c.1509_1517del (p.Glu504_Ala506del)
c.1494_1502del (p.Glu499_Ala501del)
c.1353_1361del (p.Glu452_Ala454del)
c.1164_1172del (p.Glu389_Ala391del)
c.1149_1157del (p.Glu384_Ala386del)
c.654_662del (p.Glu219_Ala221del)
c.465_473del (p.Glu156_Ala158del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.86716537C>ACA377450708LDB3n.515-2190C>A
c.1253C>A (p.Pro418His)
c.1301C>A (p.Pro434His)
c.1442C>A (p.Pro481His)
c.1112C>A (p.Pro371His)
c.1457C>A (p.Pro486His)
c.1694C>A (p.Pro565His)
c.1646C>A (p.Pro549His)
c.1505C>A (p.Pro502His)
c.1490C>A (p.Pro497His)
c.1349C>A (p.Pro450His)
c.1160C>A (p.Pro387His)
c.1145C>A (p.Pro382His)
c.650C>A (p.Pro217His)
c.461C>A (p.Pro154His)
10g.86716537C=CA1925631925LDB3n.515-2190C=
c.1253C= (p.Pro418=)
c.1301C= (p.Pro434=)
c.1442C= (p.Pro481=)
c.1112C= (p.Pro371=)
c.1457C= (p.Pro486=)
c.1694C= (p.Pro565=)
c.1646C= (p.Pro549=)
c.1505C= (p.Pro502=)
c.1490C= (p.Pro497=)
c.1349C= (p.Pro450=)
c.1160C= (p.Pro387=)
c.1145C= (p.Pro382=)
c.650C= (p.Pro217=)
c.461C= (p.Pro154=)
10g.86716537C>GCA5585163LDB3n.515-2190C>G
c.1253C>G (p.Pro418Arg)
c.1301C>G (p.Pro434Arg)
c.1442C>G (p.Pro481Arg)
c.1112C>G (p.Pro371Arg)
c.1457C>G (p.Pro486Arg)
c.1694C>G (p.Pro565Arg)
c.1646C>G (p.Pro549Arg)
c.1505C>G (p.Pro502Arg)
c.1490C>G (p.Pro497Arg)
c.1349C>G (p.Pro450Arg)
c.1160C>G (p.Pro387Arg)
c.1145C>G (p.Pro382Arg)
c.650C>G (p.Pro217Arg)
c.461C>G (p.Pro154Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716537C>TCA377450714LDB3n.515-2190C>T
c.1253C>T (p.Pro418Leu)
c.1301C>T (p.Pro434Leu)
c.1442C>T (p.Pro481Leu)
c.1112C>T (p.Pro371Leu)
c.1457C>T (p.Pro486Leu)
c.1694C>T (p.Pro565Leu)
c.1646C>T (p.Pro549Leu)
c.1505C>T (p.Pro502Leu)
c.1490C>T (p.Pro497Leu)
c.1349C>T (p.Pro450Leu)
c.1160C>T (p.Pro387Leu)
c.1145C>T (p.Pro382Leu)
c.650C>T (p.Pro217Leu)
c.461C>T (p.Pro154Leu)
 dbSNP
10g.86716538T>ACA470375343LDB3n.515-2189T>A
c.1254T>A (p.Pro418=)
c.1302T>A (p.Pro434=)
c.1443T>A (p.Pro481=)
c.1113T>A (p.Pro371=)
c.1458T>A (p.Pro486=)
c.1695T>A (p.Pro565=)
c.1647T>A (p.Pro549=)
c.1506T>A (p.Pro502=)
c.1491T>A (p.Pro497=)
c.1350T>A (p.Pro450=)
c.1161T>A (p.Pro387=)
c.1146T>A (p.Pro382=)
c.651T>A (p.Pro217=)
c.462T>A (p.Pro154=)
10g.86716538T>CCA470375345LDB3n.515-2189T>C
c.1254T>C (p.Pro418=)
c.1302T>C (p.Pro434=)
c.1443T>C (p.Pro481=)
c.1113T>C (p.Pro371=)
c.1458T>C (p.Pro486=)
c.1695T>C (p.Pro565=)
c.1647T>C (p.Pro549=)
c.1506T>C (p.Pro502=)
c.1491T>C (p.Pro497=)
c.1350T>C (p.Pro450=)
c.1161T>C (p.Pro387=)
c.1146T>C (p.Pro382=)
c.651T>C (p.Pro217=)
c.462T>C (p.Pro154=)
10g.86716538T>GCA470375340LDB3n.515-2189T>G
c.1254T>G (p.Pro418=)
c.1302T>G (p.Pro434=)
c.1443T>G (p.Pro481=)
c.1113T>G (p.Pro371=)
c.1458T>G (p.Pro486=)
c.1695T>G (p.Pro565=)
c.1647T>G (p.Pro549=)
c.1506T>G (p.Pro502=)
c.1491T>G (p.Pro497=)
c.1350T>G (p.Pro450=)
c.1161T>G (p.Pro387=)
c.1146T>G (p.Pro382=)
c.651T>G (p.Pro217=)
c.462T>G (p.Pro154=)
10g.86716539G>ACA377450718LDB3n.515-2188G>A
c.1255G>A (p.Ala419Thr)
c.1303G>A (p.Ala435Thr)
c.1444G>A (p.Ala482Thr)
c.1114G>A (p.Ala372Thr)
c.1459G>A (p.Ala487Thr)
c.1696G>A (p.Ala566Thr)
c.1648G>A (p.Ala550Thr)
c.1507G>A (p.Ala503Thr)
c.1492G>A (p.Ala498Thr)
c.1351G>A (p.Ala451Thr)
c.1162G>A (p.Ala388Thr)
c.1147G>A (p.Ala383Thr)
c.652G>A (p.Ala218Thr)
c.463G>A (p.Ala155Thr)
 dbSNP gnomAD v3 gnomAD v4
10g.86716539G>CCA377450720LDB3n.515-2188G>C
c.1255G>C (p.Ala419Pro)
c.1303G>C (p.Ala435Pro)
c.1444G>C (p.Ala482Pro)
c.1114G>C (p.Ala372Pro)
c.1459G>C (p.Ala487Pro)
c.1696G>C (p.Ala566Pro)
c.1648G>C (p.Ala550Pro)
c.1507G>C (p.Ala503Pro)
c.1492G>C (p.Ala498Pro)
c.1351G>C (p.Ala451Pro)
c.1162G>C (p.Ala388Pro)
c.1147G>C (p.Ala383Pro)
c.652G>C (p.Ala218Pro)
c.463G>C (p.Ala155Pro)
10g.86716539G>TCA377450722LDB3n.515-2188G>T
c.1255G>T (p.Ala419Ser)
c.1303G>T (p.Ala435Ser)
c.1444G>T (p.Ala482Ser)
c.1114G>T (p.Ala372Ser)
c.1459G>T (p.Ala487Ser)
c.1696G>T (p.Ala566Ser)
c.1648G>T (p.Ala550Ser)
c.1507G>T (p.Ala503Ser)
c.1492G>T (p.Ala498Ser)
c.1351G>T (p.Ala451Ser)
c.1162G>T (p.Ala388Ser)
c.1147G>T (p.Ala383Ser)
c.652G>T (p.Ala218Ser)
c.463G>T (p.Ala155Ser)
10g.86716540C>ACA377450725LDB3n.515-2187C>A
c.1256C>A (p.Ala419Glu)
c.1304C>A (p.Ala435Glu)
c.1445C>A (p.Ala482Glu)
c.1115C>A (p.Ala372Glu)
c.1460C>A (p.Ala487Glu)
c.1697C>A (p.Ala566Glu)
c.1649C>A (p.Ala550Glu)
c.1508C>A (p.Ala503Glu)
c.1493C>A (p.Ala498Glu)
c.1352C>A (p.Ala451Glu)
c.1163C>A (p.Ala388Glu)
c.1148C>A (p.Ala383Glu)
c.653C>A (p.Ala218Glu)
c.464C>A (p.Ala155Glu)
10g.86716540C=CA1925631926LDB3n.515-2187C=
c.1256C= (p.Ala419=)
c.1304C= (p.Ala435=)
c.1445C= (p.Ala482=)
c.1115C= (p.Ala372=)
c.1460C= (p.Ala487=)
c.1697C= (p.Ala566=)
c.1649C= (p.Ala550=)
c.1508C= (p.Ala503=)
c.1493C= (p.Ala498=)
c.1352C= (p.Ala451=)
c.1163C= (p.Ala388=)
c.1148C= (p.Ala383=)
c.653C= (p.Ala218=)
c.464C= (p.Ala155=)
10g.86716540C>GCA377450727LDB3n.515-2187C>G
c.1256C>G (p.Ala419Gly)
c.1304C>G (p.Ala435Gly)
c.1445C>G (p.Ala482Gly)
c.1115C>G (p.Ala372Gly)
c.1460C>G (p.Ala487Gly)
c.1697C>G (p.Ala566Gly)
c.1649C>G (p.Ala550Gly)
c.1508C>G (p.Ala503Gly)
c.1493C>G (p.Ala498Gly)
c.1352C>G (p.Ala451Gly)
c.1163C>G (p.Ala388Gly)
c.1148C>G (p.Ala383Gly)
c.653C>G (p.Ala218Gly)
c.464C>G (p.Ala155Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.86716540C>TCA5585164LDB3n.515-2187C>T
c.1256C>T (p.Ala419Val)
c.1304C>T (p.Ala435Val)
c.1445C>T (p.Ala482Val)
c.1115C>T (p.Ala372Val)
c.1460C>T (p.Ala487Val)
c.1697C>T (p.Ala566Val)
c.1649C>T (p.Ala550Val)
c.1508C>T (p.Ala503Val)
c.1493C>T (p.Ala498Val)
c.1352C>T (p.Ala451Val)
c.1163C>T (p.Ala388Val)
c.1148C>T (p.Ala383Val)
c.653C>T (p.Ala218Val)
c.464C>T (p.Ala155Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
10g.86716541G>ACA5585165LDB3n.515-2186G>A
c.1257G>A (p.Ala419=)
c.1305G>A (p.Ala435=)
c.1446G>A (p.Ala482=)
c.1116G>A (p.Ala372=)
c.1461G>A (p.Ala487=)
c.1698G>A (p.Ala566=)
c.1650G>A (p.Ala550=)
c.1509G>A (p.Ala503=)
c.1494G>A (p.Ala498=)
c.1353G>A (p.Ala451=)
c.1164G>A (p.Ala388=)
c.1149G>A (p.Ala383=)
c.654G>A (p.Ala218=)
c.465G>A (p.Ala155=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716541G>CCA470375361LDB3n.515-2186G>C
c.1257G>C (p.Ala419=)
c.1305G>C (p.Ala435=)
c.1446G>C (p.Ala482=)
c.1116G>C (p.Ala372=)
c.1461G>C (p.Ala487=)
c.1698G>C (p.Ala566=)
c.1650G>C (p.Ala550=)
c.1509G>C (p.Ala503=)
c.1494G>C (p.Ala498=)
c.1353G>C (p.Ala451=)
c.1164G>C (p.Ala388=)
c.1149G>C (p.Ala383=)
c.654G>C (p.Ala218=)
c.465G>C (p.Ala155=)
10g.86716541G=CA1925631927LDB3n.515-2186G=
c.1257G= (p.Ala419=)
c.1305G= (p.Ala435=)
c.1446G= (p.Ala482=)
c.1116G= (p.Ala372=)
c.1461G= (p.Ala487=)
c.1698G= (p.Ala566=)
c.1650G= (p.Ala550=)
c.1509G= (p.Ala503=)
c.1494G= (p.Ala498=)
c.1353G= (p.Ala451=)
c.1164G= (p.Ala388=)
c.1149G= (p.Ala383=)
c.654G= (p.Ala218=)
c.465G= (p.Ala155=)
10g.86716541G>TCA470375363LDB3n.515-2186G>T
c.1257G>T (p.Ala419=)
c.1305G>T (p.Ala435=)
c.1446G>T (p.Ala482=)
c.1116G>T (p.Ala372=)
c.1461G>T (p.Ala487=)
c.1698G>T (p.Ala566=)
c.1650G>T (p.Ala550=)
c.1509G>T (p.Ala503=)
c.1494G>T (p.Ala498=)
c.1353G>T (p.Ala451=)
c.1164G>T (p.Ala388=)
c.1149G>T (p.Ala383=)
c.654G>T (p.Ala218=)
c.465G>T (p.Ala155=)
10g.86716542G>ACA377450731LDB3n.515-2185G>A
c.1258G>A (p.Glu420Lys)
c.1306G>A (p.Glu436Lys)
c.1447G>A (p.Glu483Lys)
c.1117G>A (p.Glu373Lys)
c.1462G>A (p.Glu488Lys)
c.1699G>A (p.Glu567Lys)
c.1651G>A (p.Glu551Lys)
c.1510G>A (p.Glu504Lys)
c.1495G>A (p.Glu499Lys)
c.1354G>A (p.Glu452Lys)
c.1165G>A (p.Glu389Lys)
c.1150G>A (p.Glu384Lys)
c.655G>A (p.Glu219Lys)
c.466G>A (p.Glu156Lys)
 COSMIC COSMIC COSMIC
10g.86716542G>CCA377450738LDB3n.515-2185G>C
c.1258G>C (p.Glu420Gln)
c.1306G>C (p.Glu436Gln)
c.1447G>C (p.Glu483Gln)
c.1117G>C (p.Glu373Gln)
c.1462G>C (p.Glu488Gln)
c.1699G>C (p.Glu567Gln)
c.1651G>C (p.Glu551Gln)
c.1510G>C (p.Glu504Gln)
c.1495G>C (p.Glu499Gln)
c.1354G>C (p.Glu452Gln)
c.1165G>C (p.Glu389Gln)
c.1150G>C (p.Glu384Gln)
c.655G>C (p.Glu219Gln)
c.466G>C (p.Glu156Gln)
10g.86716542G>TCA377450735LDB3n.515-2185G>T
c.1258G>T (p.Glu420Ter)
c.1306G>T (p.Glu436Ter)
c.1447G>T (p.Glu483Ter)
c.1117G>T (p.Glu373Ter)
c.1462G>T (p.Glu488Ter)
c.1699G>T (p.Glu567Ter)
c.1651G>T (p.Glu551Ter)
c.1510G>T (p.Glu504Ter)
c.1495G>T (p.Glu499Ter)
c.1354G>T (p.Glu452Ter)
c.1165G>T (p.Glu389Ter)
c.1150G>T (p.Glu384Ter)
c.655G>T (p.Glu219Ter)
c.466G>T (p.Glu156Ter)
10g.86716543A>CCA377450744LDB3n.515-2184A>C
c.1259A>C (p.Glu420Ala)
c.1307A>C (p.Glu436Ala)
c.1448A>C (p.Glu483Ala)
c.1118A>C (p.Glu373Ala)
c.1463A>C (p.Glu488Ala)
c.1700A>C (p.Glu567Ala)
c.1652A>C (p.Glu551Ala)
c.1511A>C (p.Glu504Ala)
c.1496A>C (p.Glu499Ala)
c.1355A>C (p.Glu452Ala)
c.1166A>C (p.Glu389Ala)
c.1151A>C (p.Glu384Ala)
c.656A>C (p.Glu219Ala)
c.467A>C (p.Glu156Ala)
10g.86716543A>GCA377450748LDB3n.515-2184A>G
c.1259A>G (p.Glu420Gly)
c.1307A>G (p.Glu436Gly)
c.1448A>G (p.Glu483Gly)
c.1118A>G (p.Glu373Gly)
c.1463A>G (p.Glu488Gly)
c.1700A>G (p.Glu567Gly)
c.1652A>G (p.Glu551Gly)
c.1511A>G (p.Glu504Gly)
c.1496A>G (p.Glu499Gly)
c.1355A>G (p.Glu452Gly)
c.1166A>G (p.Glu389Gly)
c.1151A>G (p.Glu384Gly)
c.656A>G (p.Glu219Gly)
c.467A>G (p.Glu156Gly)
10g.86716543A>TCA377450746LDB3n.515-2184A>T
c.1259A>T (p.Glu420Val)
c.1307A>T (p.Glu436Val)
c.1448A>T (p.Glu483Val)
c.1118A>T (p.Glu373Val)
c.1463A>T (p.Glu488Val)
c.1700A>T (p.Glu567Val)
c.1652A>T (p.Glu551Val)
c.1511A>T (p.Glu504Val)
c.1496A>T (p.Glu499Val)
c.1355A>T (p.Glu452Val)
c.1166A>T (p.Glu389Val)
c.1151A>T (p.Glu384Val)
c.656A>T (p.Glu219Val)
c.467A>T (p.Glu156Val)
10g.86716544G>ACA470375380LDB3n.515-2183G>A
c.1260G>A (p.Glu420=)
c.1308G>A (p.Glu436=)
c.1449G>A (p.Glu483=)
c.1119G>A (p.Glu373=)
c.1464G>A (p.Glu488=)
c.1701G>A (p.Glu567=)
c.1653G>A (p.Glu551=)
c.1512G>A (p.Glu504=)
c.1497G>A (p.Glu499=)
c.1356G>A (p.Glu452=)
c.1167G>A (p.Glu389=)
c.1152G>A (p.Glu384=)
c.657G>A (p.Glu219=)
c.468G>A (p.Glu156=)
10g.86716544G>CCA377450751LDB3n.515-2183G>C
c.1260G>C (p.Glu420Asp)
c.1308G>C (p.Glu436Asp)
c.1449G>C (p.Glu483Asp)
c.1119G>C (p.Glu373Asp)
c.1464G>C (p.Glu488Asp)
c.1701G>C (p.Glu567Asp)
c.1653G>C (p.Glu551Asp)
c.1512G>C (p.Glu504Asp)
c.1497G>C (p.Glu499Asp)
c.1356G>C (p.Glu452Asp)
c.1167G>C (p.Glu389Asp)
c.1152G>C (p.Glu384Asp)
c.657G>C (p.Glu219Asp)
c.468G>C (p.Glu156Asp)
10g.86716544G>TCA377450757LDB3n.515-2183G>T
c.1260G>T (p.Glu420Asp)
c.1308G>T (p.Glu436Asp)
c.1449G>T (p.Glu483Asp)
c.1119G>T (p.Glu373Asp)
c.1464G>T (p.Glu488Asp)
c.1701G>T (p.Glu567Asp)
c.1653G>T (p.Glu551Asp)
c.1512G>T (p.Glu504Asp)
c.1497G>T (p.Glu499Asp)
c.1356G>T (p.Glu452Asp)
c.1167G>T (p.Glu389Asp)
c.1152G>T (p.Glu384Asp)
c.657G>T (p.Glu219Asp)
c.468G>T (p.Glu156Asp)
10g.86716545C>ACA377450763LDB3n.515-2182C>A
c.1261C>A (p.Pro421Thr)
c.1309C>A (p.Pro437Thr)
c.1450C>A (p.Pro484Thr)
c.1120C>A (p.Pro374Thr)
c.1465C>A (p.Pro489Thr)
c.1702C>A (p.Pro568Thr)
c.1654C>A (p.Pro552Thr)
c.1513C>A (p.Pro505Thr)
c.1498C>A (p.Pro500Thr)
c.1357C>A (p.Pro453Thr)
c.1168C>A (p.Pro390Thr)
c.1153C>A (p.Pro385Thr)
c.658C>A (p.Pro220Thr)
c.469C>A (p.Pro157Thr)
10g.86716545C=CA1925631928LDB3n.515-2182C=
c.1261C= (p.Pro421=)
c.1309C= (p.Pro437=)
c.1450C= (p.Pro484=)
c.1120C= (p.Pro374=)
c.1465C= (p.Pro489=)
c.1702C= (p.Pro568=)
c.1654C= (p.Pro552=)
c.1513C= (p.Pro505=)
c.1498C= (p.Pro500=)
c.1357C= (p.Pro453=)
c.1168C= (p.Pro390=)
c.1153C= (p.Pro385=)
c.658C= (p.Pro220=)
c.469C= (p.Pro157=)
10g.86716545C>GCA377450767LDB3n.515-2182C>G
c.1261C>G (p.Pro421Ala)
c.1309C>G (p.Pro437Ala)
c.1450C>G (p.Pro484Ala)
c.1120C>G (p.Pro374Ala)
c.1465C>G (p.Pro489Ala)
c.1702C>G (p.Pro568Ala)
c.1654C>G (p.Pro552Ala)
c.1513C>G (p.Pro505Ala)
c.1498C>G (p.Pro500Ala)
c.1357C>G (p.Pro453Ala)
c.1168C>G (p.Pro390Ala)
c.1153C>G (p.Pro385Ala)
c.658C>G (p.Pro220Ala)
c.469C>G (p.Pro157Ala)
 dbSNP gnomAD v2 gnomAD v4
10g.86716545C>TCA377450769LDB3n.515-2182C>T
c.1261C>T (p.Pro421Ser)
c.1309C>T (p.Pro437Ser)
c.1450C>T (p.Pro484Ser)
c.1120C>T (p.Pro374Ser)
c.1465C>T (p.Pro489Ser)
c.1702C>T (p.Pro568Ser)
c.1654C>T (p.Pro552Ser)
c.1513C>T (p.Pro505Ser)
c.1498C>T (p.Pro500Ser)
c.1357C>T (p.Pro453Ser)
c.1168C>T (p.Pro390Ser)
c.1153C>T (p.Pro385Ser)
c.658C>T (p.Pro220Ser)
c.469C>T (p.Pro157Ser)
 dbSNP gnomAD v3 gnomAD v4
10g.86716546C>ACA377450773LDB3n.515-2181C>A
c.1262C>A (p.Pro421His)
c.1310C>A (p.Pro437His)
c.1451C>A (p.Pro484His)
c.1121C>A (p.Pro374His)
c.1466C>A (p.Pro489His)
c.1703C>A (p.Pro568His)
c.1655C>A (p.Pro552His)
c.1514C>A (p.Pro505His)
c.1499C>A (p.Pro500His)
c.1358C>A (p.Pro453His)
c.1169C>A (p.Pro390His)
c.1154C>A (p.Pro385His)
c.659C>A (p.Pro220His)
c.470C>A (p.Pro157His)
10g.86716546C=CA1925631929LDB3n.515-2181C=
c.1262C= (p.Pro421=)
c.1310C= (p.Pro437=)
c.1451C= (p.Pro484=)
c.1121C= (p.Pro374=)
c.1466C= (p.Pro489=)
c.1703C= (p.Pro568=)
c.1655C= (p.Pro552=)
c.1514C= (p.Pro505=)
c.1499C= (p.Pro500=)
c.1358C= (p.Pro453=)
c.1169C= (p.Pro390=)
c.1154C= (p.Pro385=)
c.659C= (p.Pro220=)
c.470C= (p.Pro157=)
10g.86716546C>GCA377450774LDB3n.515-2181C>G
c.1262C>G (p.Pro421Arg)
c.1310C>G (p.Pro437Arg)
c.1451C>G (p.Pro484Arg)
c.1121C>G (p.Pro374Arg)
c.1466C>G (p.Pro489Arg)
c.1703C>G (p.Pro568Arg)
c.1655C>G (p.Pro552Arg)
c.1514C>G (p.Pro505Arg)
c.1499C>G (p.Pro500Arg)
c.1358C>G (p.Pro453Arg)
c.1169C>G (p.Pro390Arg)
c.1154C>G (p.Pro385Arg)
c.659C>G (p.Pro220Arg)
c.470C>G (p.Pro157Arg)
10g.86716546C>TCA377450777LDB3n.515-2181C>T
c.1262C>T (p.Pro421Leu)
c.1310C>T (p.Pro437Leu)
c.1451C>T (p.Pro484Leu)
c.1121C>T (p.Pro374Leu)
c.1466C>T (p.Pro489Leu)
c.1703C>T (p.Pro568Leu)
c.1655C>T (p.Pro552Leu)
c.1514C>T (p.Pro505Leu)
c.1499C>T (p.Pro500Leu)
c.1358C>T (p.Pro453Leu)
c.1169C>T (p.Pro390Leu)
c.1154C>T (p.Pro385Leu)
c.659C>T (p.Pro220Leu)
c.470C>T (p.Pro157Leu)
 dbSNP gnomAD v4
10g.86716547T>ACA470375395LDB3n.515-2180T>A
c.1263T>A (p.Pro421=)
c.1311T>A (p.Pro437=)
c.1452T>A (p.Pro484=)
c.1122T>A (p.Pro374=)
c.1467T>A (p.Pro489=)
c.1704T>A (p.Pro568=)
c.1656T>A (p.Pro552=)
c.1515T>A (p.Pro505=)
c.1500T>A (p.Pro500=)
c.1359T>A (p.Pro453=)
c.1170T>A (p.Pro390=)
c.1155T>A (p.Pro385=)
c.660T>A (p.Pro220=)
c.471T>A (p.Pro157=)
10g.86716547T>CCA470375397LDB3n.515-2180T>C
c.1263T>C (p.Pro421=)
c.1311T>C (p.Pro437=)
c.1452T>C (p.Pro484=)
c.1122T>C (p.Pro374=)
c.1467T>C (p.Pro489=)
c.1704T>C (p.Pro568=)
c.1656T>C (p.Pro552=)
c.1515T>C (p.Pro505=)
c.1500T>C (p.Pro500=)
c.1359T>C (p.Pro453=)
c.1170T>C (p.Pro390=)
c.1155T>C (p.Pro385=)
c.660T>C (p.Pro220=)
c.471T>C (p.Pro157=)
10g.86716547T>GCA470375399LDB3n.515-2180T>G
c.1263T>G (p.Pro421=)
c.1311T>G (p.Pro437=)
c.1452T>G (p.Pro484=)
c.1122T>G (p.Pro374=)
c.1467T>G (p.Pro489=)
c.1704T>G (p.Pro568=)
c.1656T>G (p.Pro552=)
c.1515T>G (p.Pro505=)
c.1500T>G (p.Pro500=)
c.1359T>G (p.Pro453=)
c.1170T>G (p.Pro390=)
c.1155T>G (p.Pro385=)
c.660T>G (p.Pro220=)
c.471T>G (p.Pro157=)
10g.86716548G>ACA377450779LDB3n.515-2179G>A
c.1264G>A (p.Ala422Thr)
c.1312G>A (p.Ala438Thr)
c.1453G>A (p.Ala485Thr)
c.1123G>A (p.Ala375Thr)
c.1468G>A (p.Ala490Thr)
c.1705G>A (p.Ala569Thr)
c.1657G>A (p.Ala553Thr)
c.1516G>A (p.Ala506Thr)
c.1501G>A (p.Ala501Thr)
c.1360G>A (p.Ala454Thr)
c.1171G>A (p.Ala391Thr)
c.1156G>A (p.Ala386Thr)
c.661G>A (p.Ala221Thr)
c.472G>A (p.Ala158Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.86716548G>CCA377450781LDB3n.515-2179G>C
c.1264G>C (p.Ala422Pro)
c.1312G>C (p.Ala438Pro)
c.1453G>C (p.Ala485Pro)
c.1123G>C (p.Ala375Pro)
c.1468G>C (p.Ala490Pro)
c.1705G>C (p.Ala569Pro)
c.1657G>C (p.Ala553Pro)
c.1516G>C (p.Ala506Pro)
c.1501G>C (p.Ala501Pro)
c.1360G>C (p.Ala454Pro)
c.1171G>C (p.Ala391Pro)
c.1156G>C (p.Ala386Pro)
c.661G>C (p.Ala221Pro)
c.472G>C (p.Ala158Pro)
10g.86716548G=CA1925631930LDB3n.515-2179G=
c.1264G= (p.Ala422=)
c.1312G= (p.Ala438=)
c.1453G= (p.Ala485=)
c.1123G= (p.Ala375=)
c.1468G= (p.Ala490=)
c.1705G= (p.Ala569=)
c.1657G= (p.Ala553=)
c.1516G= (p.Ala506=)
c.1501G= (p.Ala501=)
c.1360G= (p.Ala454=)
c.1171G= (p.Ala391=)
c.1156G= (p.Ala386=)
c.661G= (p.Ala221=)
c.472G= (p.Ala158=)
10g.86716548G>TCA136516LDB3n.515-2179G>T
c.1264G>T (p.Ala422Ser)
c.1312G>T (p.Ala438Ser)
c.1453G>T (p.Ala485Ser)
c.1123G>T (p.Ala375Ser)
c.1468G>T (p.Ala490Ser)
c.1705G>T (p.Ala569Ser)
c.1657G>T (p.Ala553Ser)
c.1516G>T (p.Ala506Ser)
c.1501G>T (p.Ala501Ser)
c.1360G>T (p.Ala454Ser)
c.1171G>T (p.Ala391Ser)
c.1156G>T (p.Ala386Ser)
c.661G>T (p.Ala221Ser)
c.472G>T (p.Ala158Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.86716549C>ACA377450785LDB3n.515-2178C>A
c.1265C>A (p.Ala422Asp)
c.1313C>A (p.Ala438Asp)
c.1454C>A (p.Ala485Asp)
c.1124C>A (p.Ala375Asp)
c.1469C>A (p.Ala490Asp)
c.1706C>A (p.Ala569Asp)
c.1658C>A (p.Ala553Asp)
c.1517C>A (p.Ala506Asp)
c.1502C>A (p.Ala501Asp)
c.1361C>A (p.Ala454Asp)
c.1172C>A (p.Ala391Asp)
c.1157C>A (p.Ala386Asp)
c.662C>A (p.Ala221Asp)
c.473C>A (p.Ala158Asp)
10g.86716549C>GCA377450786LDB3n.515-2178C>G
c.1265C>G (p.Ala422Gly)
c.1313C>G (p.Ala438Gly)
c.1454C>G (p.Ala485Gly)
c.1124C>G (p.Ala375Gly)
c.1469C>G (p.Ala490Gly)
c.1706C>G (p.Ala569Gly)
c.1658C>G (p.Ala553Gly)
c.1517C>G (p.Ala506Gly)
c.1502C>G (p.Ala501Gly)
c.1361C>G (p.Ala454Gly)
c.1172C>G (p.Ala391Gly)
c.1157C>G (p.Ala386Gly)
c.662C>G (p.Ala221Gly)
c.473C>G (p.Ala158Gly)
10g.86716549C>TCA377450789LDB3n.515-2178C>T
c.1265C>T (p.Ala422Val)
c.1313C>T (p.Ala438Val)
c.1454C>T (p.Ala485Val)
c.1124C>T (p.Ala375Val)
c.1469C>T (p.Ala490Val)
c.1706C>T (p.Ala569Val)
c.1658C>T (p.Ala553Val)
c.1517C>T (p.Ala506Val)
c.1502C>T (p.Ala501Val)
c.1361C>T (p.Ala454Val)
c.1172C>T (p.Ala391Val)
c.1157C>T (p.Ala386Val)
c.662C>T (p.Ala221Val)
c.473C>T (p.Ala158Val)
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)

Number of alleles fetched