Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.86716578A>CCA377450948LDB3n.515-2149A>C
c.1294A>C (p.Ser432Arg)
c.1342A>C (p.Ser448Arg)
c.1483A>C (p.Ser495Arg)
c.1153A>C (p.Ser385Arg)
c.1498A>C (p.Ser500Arg)
c.1735A>C (p.Ser579Arg)
c.1687A>C (p.Ser563Arg)
c.1546A>C (p.Ser516Arg)
c.1531A>C (p.Ser511Arg)
c.1390A>C (p.Ser464Arg)
c.1201A>C (p.Ser401Arg)
c.1186A>C (p.Ser396Arg)
c.691A>C (p.Ser231Arg)
c.502A>C (p.Ser168Arg)
10g.86716578A>GCA377450952LDB3n.515-2149A>G
c.1294A>G (p.Ser432Gly)
c.1342A>G (p.Ser448Gly)
c.1483A>G (p.Ser495Gly)
c.1153A>G (p.Ser385Gly)
c.1498A>G (p.Ser500Gly)
c.1735A>G (p.Ser579Gly)
c.1687A>G (p.Ser563Gly)
c.1546A>G (p.Ser516Gly)
c.1531A>G (p.Ser511Gly)
c.1390A>G (p.Ser464Gly)
c.1201A>G (p.Ser401Gly)
c.1186A>G (p.Ser396Gly)
c.691A>G (p.Ser231Gly)
c.502A>G (p.Ser168Gly)
 ClinVar dbSNP gnomAD v4
10g.86716578A>TCA377450950LDB3n.515-2149A>T
c.1294A>T (p.Ser432Cys)
c.1342A>T (p.Ser448Cys)
c.1483A>T (p.Ser495Cys)
c.1153A>T (p.Ser385Cys)
c.1498A>T (p.Ser500Cys)
c.1735A>T (p.Ser579Cys)
c.1687A>T (p.Ser563Cys)
c.1546A>T (p.Ser516Cys)
c.1531A>T (p.Ser511Cys)
c.1390A>T (p.Ser464Cys)
c.1201A>T (p.Ser401Cys)
c.1186A>T (p.Ser396Cys)
c.691A>T (p.Ser231Cys)
c.502A>T (p.Ser168Cys)
10g.86716579G>ACA377450953LDB3n.515-2148G>A
c.1295G>A (p.Ser432Asn)
c.1343G>A (p.Ser448Asn)
c.1484G>A (p.Ser495Asn)
c.1154G>A (p.Ser385Asn)
c.1499G>A (p.Ser500Asn)
c.1736G>A (p.Ser579Asn)
c.1688G>A (p.Ser563Asn)
c.1547G>A (p.Ser516Asn)
c.1532G>A (p.Ser511Asn)
c.1391G>A (p.Ser464Asn)
c.1202G>A (p.Ser401Asn)
c.1187G>A (p.Ser396Asn)
c.692G>A (p.Ser231Asn)
c.503G>A (p.Ser168Asn)
 gnomAD v4
10g.86716579G>CCA377450955LDB3n.515-2148G>C
c.1295G>C (p.Ser432Thr)
c.1343G>C (p.Ser448Thr)
c.1484G>C (p.Ser495Thr)
c.1154G>C (p.Ser385Thr)
c.1499G>C (p.Ser500Thr)
c.1736G>C (p.Ser579Thr)
c.1688G>C (p.Ser563Thr)
c.1547G>C (p.Ser516Thr)
c.1532G>C (p.Ser511Thr)
c.1391G>C (p.Ser464Thr)
c.1202G>C (p.Ser401Thr)
c.1187G>C (p.Ser396Thr)
c.692G>C (p.Ser231Thr)
c.503G>C (p.Ser168Thr)
 dbSNP
10g.86716579G=CA1925631945LDB3n.515-2148G=
c.1295G= (p.Ser432=)
c.1343G= (p.Ser448=)
c.1484G= (p.Ser495=)
c.1154G= (p.Ser385=)
c.1499G= (p.Ser500=)
c.1736G= (p.Ser579=)
c.1688G= (p.Ser563=)
c.1547G= (p.Ser516=)
c.1532G= (p.Ser511=)
c.1391G= (p.Ser464=)
c.1202G= (p.Ser401=)
c.1187G= (p.Ser396=)
c.692G= (p.Ser231=)
c.503G= (p.Ser168=)
10g.86716579G>TCA377450956LDB3n.515-2148G>T
c.1295G>T (p.Ser432Ile)
c.1343G>T (p.Ser448Ile)
c.1484G>T (p.Ser495Ile)
c.1154G>T (p.Ser385Ile)
c.1499G>T (p.Ser500Ile)
c.1736G>T (p.Ser579Ile)
c.1688G>T (p.Ser563Ile)
c.1547G>T (p.Ser516Ile)
c.1532G>T (p.Ser511Ile)
c.1391G>T (p.Ser464Ile)
c.1202G>T (p.Ser401Ile)
c.1187G>T (p.Ser396Ile)
c.692G>T (p.Ser231Ile)
c.503G>T (p.Ser168Ile)
10g.86716580C>ACA377450959LDB3n.515-2147C>A
c.1296C>A (p.Ser432Arg)
c.1344C>A (p.Ser448Arg)
c.1485C>A (p.Ser495Arg)
c.1155C>A (p.Ser385Arg)
c.1500C>A (p.Ser500Arg)
c.1737C>A (p.Ser579Arg)
c.1689C>A (p.Ser563Arg)
c.1548C>A (p.Ser516Arg)
c.1533C>A (p.Ser511Arg)
c.1392C>A (p.Ser464Arg)
c.1203C>A (p.Ser401Arg)
c.1188C>A (p.Ser396Arg)
c.693C>A (p.Ser231Arg)
c.504C>A (p.Ser168Arg)
10g.86716580C>GCA377450962LDB3n.515-2147C>G
c.1296C>G (p.Ser432Arg)
c.1344C>G (p.Ser448Arg)
c.1485C>G (p.Ser495Arg)
c.1155C>G (p.Ser385Arg)
c.1500C>G (p.Ser500Arg)
c.1737C>G (p.Ser579Arg)
c.1689C>G (p.Ser563Arg)
c.1548C>G (p.Ser516Arg)
c.1533C>G (p.Ser511Arg)
c.1392C>G (p.Ser464Arg)
c.1203C>G (p.Ser401Arg)
c.1188C>G (p.Ser396Arg)
c.693C>G (p.Ser231Arg)
c.504C>G (p.Ser168Arg)
10g.86716580C>TCA470375598LDB3n.515-2147C>T
c.1296C>T (p.Ser432=)
c.1344C>T (p.Ser448=)
c.1485C>T (p.Ser495=)
c.1155C>T (p.Ser385=)
c.1500C>T (p.Ser500=)
c.1737C>T (p.Ser579=)
c.1689C>T (p.Ser563=)
c.1548C>T (p.Ser516=)
c.1533C>T (p.Ser511=)
c.1392C>T (p.Ser464=)
c.1203C>T (p.Ser401=)
c.1188C>T (p.Ser396=)
c.693C>T (p.Ser231=)
c.504C>T (p.Ser168=)
10g.86716581T>ACA377450965LDB3n.515-2146T>A
c.1297T>A (p.Phe433Ile)
c.1345T>A (p.Phe449Ile)
c.1486T>A (p.Phe496Ile)
c.1156T>A (p.Phe386Ile)
c.1501T>A (p.Phe501Ile)
c.1738T>A (p.Phe580Ile)
c.1690T>A (p.Phe564Ile)
c.1549T>A (p.Phe517Ile)
c.1534T>A (p.Phe512Ile)
c.1393T>A (p.Phe465Ile)
c.1204T>A (p.Phe402Ile)
c.1189T>A (p.Phe397Ile)
c.694T>A (p.Phe232Ile)
c.505T>A (p.Phe169Ile)
10g.86716581T>CCA377450968LDB3n.515-2146T>C
c.1297T>C (p.Phe433Leu)
c.1345T>C (p.Phe449Leu)
c.1486T>C (p.Phe496Leu)
c.1156T>C (p.Phe386Leu)
c.1501T>C (p.Phe501Leu)
c.1738T>C (p.Phe580Leu)
c.1690T>C (p.Phe564Leu)
c.1549T>C (p.Phe517Leu)
c.1534T>C (p.Phe512Leu)
c.1393T>C (p.Phe465Leu)
c.1204T>C (p.Phe402Leu)
c.1189T>C (p.Phe397Leu)
c.694T>C (p.Phe232Leu)
c.505T>C (p.Phe169Leu)
10g.86716581T>GCA5585169LDB3n.515-2146T>G
c.1297T>G (p.Phe433Val)
c.1345T>G (p.Phe449Val)
c.1486T>G (p.Phe496Val)
c.1156T>G (p.Phe386Val)
c.1501T>G (p.Phe501Val)
c.1738T>G (p.Phe580Val)
c.1690T>G (p.Phe564Val)
c.1549T>G (p.Phe517Val)
c.1534T>G (p.Phe512Val)
c.1393T>G (p.Phe465Val)
c.1204T>G (p.Phe402Val)
c.1189T>G (p.Phe397Val)
c.694T>G (p.Phe232Val)
c.505T>G (p.Phe169Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716581T=CA1925631946LDB3n.515-2146T=
c.1297T= (p.Phe433=)
c.1345T= (p.Phe449=)
c.1486T= (p.Phe496=)
c.1156T= (p.Phe386=)
c.1501T= (p.Phe501=)
c.1738T= (p.Phe580=)
c.1690T= (p.Phe564=)
c.1549T= (p.Phe517=)
c.1534T= (p.Phe512=)
c.1393T= (p.Phe465=)
c.1204T= (p.Phe402=)
c.1189T= (p.Phe397=)
c.694T= (p.Phe232=)
c.505T= (p.Phe169=)
10g.86716582T>ACA377450973LDB3n.515-2145T>A
c.1298T>A (p.Phe433Tyr)
c.1346T>A (p.Phe449Tyr)
c.1487T>A (p.Phe496Tyr)
c.1157T>A (p.Phe386Tyr)
c.1502T>A (p.Phe501Tyr)
c.1739T>A (p.Phe580Tyr)
c.1691T>A (p.Phe564Tyr)
c.1550T>A (p.Phe517Tyr)
c.1535T>A (p.Phe512Tyr)
c.1394T>A (p.Phe465Tyr)
c.1205T>A (p.Phe402Tyr)
c.1190T>A (p.Phe397Tyr)
c.695T>A (p.Phe232Tyr)
c.506T>A (p.Phe169Tyr)
10g.86716582T>CCA308633LDB3n.515-2145T>C
c.1298T>C (p.Phe433Ser)
c.1346T>C (p.Phe449Ser)
c.1487T>C (p.Phe496Ser)
c.1157T>C (p.Phe386Ser)
c.1502T>C (p.Phe501Ser)
c.1739T>C (p.Phe580Ser)
c.1691T>C (p.Phe564Ser)
c.1550T>C (p.Phe517Ser)
c.1535T>C (p.Phe512Ser)
c.1394T>C (p.Phe465Ser)
c.1205T>C (p.Phe402Ser)
c.1190T>C (p.Phe397Ser)
c.695T>C (p.Phe232Ser)
c.506T>C (p.Phe169Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716582T>GCA377450976LDB3n.515-2145T>G
c.1298T>G (p.Phe433Cys)
c.1346T>G (p.Phe449Cys)
c.1487T>G (p.Phe496Cys)
c.1157T>G (p.Phe386Cys)
c.1502T>G (p.Phe501Cys)
c.1739T>G (p.Phe580Cys)
c.1691T>G (p.Phe564Cys)
c.1550T>G (p.Phe517Cys)
c.1535T>G (p.Phe512Cys)
c.1394T>G (p.Phe465Cys)
c.1205T>G (p.Phe402Cys)
c.1190T>G (p.Phe397Cys)
c.695T>G (p.Phe232Cys)
c.506T>G (p.Phe169Cys)
10g.86716582T=CA1925631947LDB3n.515-2145T=
c.1298T= (p.Phe433=)
c.1346T= (p.Phe449=)
c.1487T= (p.Phe496=)
c.1157T= (p.Phe386=)
c.1502T= (p.Phe501=)
c.1739T= (p.Phe580=)
c.1691T= (p.Phe564=)
c.1550T= (p.Phe517=)
c.1535T= (p.Phe512=)
c.1394T= (p.Phe465=)
c.1205T= (p.Phe402=)
c.1190T= (p.Phe397=)
c.695T= (p.Phe232=)
c.506T= (p.Phe169=)
10g.86716583C>ACA377450981LDB3n.515-2144C>A
c.1299C>A (p.Phe433Leu)
c.1347C>A (p.Phe449Leu)
c.1488C>A (p.Phe496Leu)
c.1158C>A (p.Phe386Leu)
c.1503C>A (p.Phe501Leu)
c.1740C>A (p.Phe580Leu)
c.1692C>A (p.Phe564Leu)
c.1551C>A (p.Phe517Leu)
c.1536C>A (p.Phe512Leu)
c.1395C>A (p.Phe465Leu)
c.1206C>A (p.Phe402Leu)
c.1191C>A (p.Phe397Leu)
c.696C>A (p.Phe232Leu)
c.507C>A (p.Phe169Leu)
10g.86716583C>GCA377450979LDB3n.515-2144C>G
c.1299C>G (p.Phe433Leu)
c.1347C>G (p.Phe449Leu)
c.1488C>G (p.Phe496Leu)
c.1158C>G (p.Phe386Leu)
c.1503C>G (p.Phe501Leu)
c.1740C>G (p.Phe580Leu)
c.1692C>G (p.Phe564Leu)
c.1551C>G (p.Phe517Leu)
c.1536C>G (p.Phe512Leu)
c.1395C>G (p.Phe465Leu)
c.1206C>G (p.Phe402Leu)
c.1191C>G (p.Phe397Leu)
c.696C>G (p.Phe232Leu)
c.507C>G (p.Phe169Leu)
10g.86716583C>TCA470375616LDB3n.515-2144C>T
c.1299C>T (p.Phe433=)
c.1347C>T (p.Phe449=)
c.1488C>T (p.Phe496=)
c.1158C>T (p.Phe386=)
c.1503C>T (p.Phe501=)
c.1740C>T (p.Phe580=)
c.1692C>T (p.Phe564=)
c.1551C>T (p.Phe517=)
c.1536C>T (p.Phe512=)
c.1395C>T (p.Phe465=)
c.1206C>T (p.Phe402=)
c.1191C>T (p.Phe397=)
c.696C>T (p.Phe232=)
c.507C>T (p.Phe169=)
10g.86716584T>ACA377450984LDB3n.515-2143T>A
c.1300T>A (p.Ser434Thr)
c.1348T>A (p.Ser450Thr)
c.1489T>A (p.Ser497Thr)
c.1159T>A (p.Ser387Thr)
c.1504T>A (p.Ser502Thr)
c.1741T>A (p.Ser581Thr)
c.1693T>A (p.Ser565Thr)
c.1552T>A (p.Ser518Thr)
c.1537T>A (p.Ser513Thr)
c.1396T>A (p.Ser466Thr)
c.1207T>A (p.Ser403Thr)
c.1192T>A (p.Ser398Thr)
c.697T>A (p.Ser233Thr)
c.508T>A (p.Ser170Thr)
10g.86716584T>CCA377450990LDB3n.515-2143T>C
c.1300T>C (p.Ser434Pro)
c.1348T>C (p.Ser450Pro)
c.1489T>C (p.Ser497Pro)
c.1159T>C (p.Ser387Pro)
c.1504T>C (p.Ser502Pro)
c.1741T>C (p.Ser581Pro)
c.1693T>C (p.Ser565Pro)
c.1552T>C (p.Ser518Pro)
c.1537T>C (p.Ser513Pro)
c.1396T>C (p.Ser466Pro)
c.1207T>C (p.Ser403Pro)
c.1192T>C (p.Ser398Pro)
c.697T>C (p.Ser233Pro)
c.508T>C (p.Ser170Pro)
10g.86716584T>GCA377450987LDB3n.515-2143T>G
c.1300T>G (p.Ser434Ala)
c.1348T>G (p.Ser450Ala)
c.1489T>G (p.Ser497Ala)
c.1159T>G (p.Ser387Ala)
c.1504T>G (p.Ser502Ala)
c.1741T>G (p.Ser581Ala)
c.1693T>G (p.Ser565Ala)
c.1552T>G (p.Ser518Ala)
c.1537T>G (p.Ser513Ala)
c.1396T>G (p.Ser466Ala)
c.1207T>G (p.Ser403Ala)
c.1192T>G (p.Ser398Ala)
c.697T>G (p.Ser233Ala)
c.508T>G (p.Ser170Ala)
10g.86716585C>ACA377450992LDB3n.515-2142C>A
c.1301C>A (p.Ser434Tyr)
c.1349C>A (p.Ser450Tyr)
c.1490C>A (p.Ser497Tyr)
c.1160C>A (p.Ser387Tyr)
c.1505C>A (p.Ser502Tyr)
c.1742C>A (p.Ser581Tyr)
c.1694C>A (p.Ser565Tyr)
c.1553C>A (p.Ser518Tyr)
c.1538C>A (p.Ser513Tyr)
c.1397C>A (p.Ser466Tyr)
c.1208C>A (p.Ser403Tyr)
c.1193C>A (p.Ser398Tyr)
c.698C>A (p.Ser233Tyr)
c.509C>A (p.Ser170Tyr)
10g.86716585C=CA1925631948LDB3n.515-2142C=
c.1301C= (p.Ser434=)
c.1349C= (p.Ser450=)
c.1490C= (p.Ser497=)
c.1160C= (p.Ser387=)
c.1505C= (p.Ser502=)
c.1742C= (p.Ser581=)
c.1694C= (p.Ser565=)
c.1553C= (p.Ser518=)
c.1538C= (p.Ser513=)
c.1397C= (p.Ser466=)
c.1208C= (p.Ser403=)
c.1193C= (p.Ser398=)
c.698C= (p.Ser233=)
c.509C= (p.Ser170=)
10g.86716585C>GCA377450993LDB3n.515-2142C>G
c.1301C>G (p.Ser434Cys)
c.1349C>G (p.Ser450Cys)
c.1490C>G (p.Ser497Cys)
c.1160C>G (p.Ser387Cys)
c.1505C>G (p.Ser502Cys)
c.1742C>G (p.Ser581Cys)
c.1694C>G (p.Ser565Cys)
c.1553C>G (p.Ser518Cys)
c.1538C>G (p.Ser513Cys)
c.1397C>G (p.Ser466Cys)
c.1208C>G (p.Ser403Cys)
c.1193C>G (p.Ser398Cys)
c.698C>G (p.Ser233Cys)
c.509C>G (p.Ser170Cys)
10g.86716585C>TCA377450996LDB3n.515-2142C>T
c.1301C>T (p.Ser434Phe)
c.1349C>T (p.Ser450Phe)
c.1490C>T (p.Ser497Phe)
c.1160C>T (p.Ser387Phe)
c.1505C>T (p.Ser502Phe)
c.1742C>T (p.Ser581Phe)
c.1694C>T (p.Ser565Phe)
c.1553C>T (p.Ser518Phe)
c.1538C>T (p.Ser513Phe)
c.1397C>T (p.Ser466Phe)
c.1208C>T (p.Ser403Phe)
c.1193C>T (p.Ser398Phe)
c.698C>T (p.Ser233Phe)
c.509C>T (p.Ser170Phe)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
10g.86716586C>ACA470375630LDB3n.515-2141C>A
c.1302C>A (p.Ser434=)
c.1350C>A (p.Ser450=)
c.1491C>A (p.Ser497=)
c.1161C>A (p.Ser387=)
c.1506C>A (p.Ser502=)
c.1743C>A (p.Ser581=)
c.1695C>A (p.Ser565=)
c.1554C>A (p.Ser518=)
c.1539C>A (p.Ser513=)
c.1398C>A (p.Ser466=)
c.1209C>A (p.Ser403=)
c.1194C>A (p.Ser398=)
c.699C>A (p.Ser233=)
c.510C>A (p.Ser170=)
10g.86716586C>GCA470375633LDB3n.515-2141C>G
c.1302C>G (p.Ser434=)
c.1350C>G (p.Ser450=)
c.1491C>G (p.Ser497=)
c.1161C>G (p.Ser387=)
c.1506C>G (p.Ser502=)
c.1743C>G (p.Ser581=)
c.1695C>G (p.Ser565=)
c.1554C>G (p.Ser518=)
c.1539C>G (p.Ser513=)
c.1398C>G (p.Ser466=)
c.1209C>G (p.Ser403=)
c.1194C>G (p.Ser398=)
c.699C>G (p.Ser233=)
c.510C>G (p.Ser170=)
10g.86716586C>TCA470375635LDB3n.515-2141C>T
c.1302C>T (p.Ser434=)
c.1350C>T (p.Ser450=)
c.1491C>T (p.Ser497=)
c.1161C>T (p.Ser387=)
c.1506C>T (p.Ser502=)
c.1743C>T (p.Ser581=)
c.1695C>T (p.Ser565=)
c.1554C>T (p.Ser518=)
c.1539C>T (p.Ser513=)
c.1398C>T (p.Ser466=)
c.1209C>T (p.Ser403=)
c.1194C>T (p.Ser398=)
c.699C>T (p.Ser233=)
c.510C>T (p.Ser170=)
10g.86716587C>ACA377450998LDB3n.515-2140C>A
c.1303C>A (p.Gln435Lys)
c.1351C>A (p.Gln451Lys)
c.1492C>A (p.Gln498Lys)
c.1162C>A (p.Gln388Lys)
c.1507C>A (p.Gln503Lys)
c.1744C>A (p.Gln582Lys)
c.1696C>A (p.Gln566Lys)
c.1555C>A (p.Gln519Lys)
c.1540C>A (p.Gln514Lys)
c.1399C>A (p.Gln467Lys)
c.1210C>A (p.Gln404Lys)
c.1195C>A (p.Gln399Lys)
c.700C>A (p.Gln234Lys)
c.511C>A (p.Gln171Lys)
 dbSNP
10g.86716587C=CA1925631949LDB3n.515-2140C=
c.1303C= (p.Gln435=)
c.1351C= (p.Gln451=)
c.1492C= (p.Gln498=)
c.1162C= (p.Gln388=)
c.1507C= (p.Gln503=)
c.1744C= (p.Gln582=)
c.1696C= (p.Gln566=)
c.1555C= (p.Gln519=)
c.1540C= (p.Gln514=)
c.1399C= (p.Gln467=)
c.1210C= (p.Gln404=)
c.1195C= (p.Gln399=)
c.700C= (p.Gln234=)
c.511C= (p.Gln171=)
10g.86716587C>GCA377451000LDB3n.515-2140C>G
c.1303C>G (p.Gln435Glu)
c.1351C>G (p.Gln451Glu)
c.1492C>G (p.Gln498Glu)
c.1162C>G (p.Gln388Glu)
c.1507C>G (p.Gln503Glu)
c.1744C>G (p.Gln582Glu)
c.1696C>G (p.Gln566Glu)
c.1555C>G (p.Gln519Glu)
c.1540C>G (p.Gln514Glu)
c.1399C>G (p.Gln467Glu)
c.1210C>G (p.Gln404Glu)
c.1195C>G (p.Gln399Glu)
c.700C>G (p.Gln234Glu)
c.511C>G (p.Gln171Glu)
10g.86716587C>TCA377451003LDB3n.515-2140C>T
c.1303C>T (p.Gln435Ter)
c.1351C>T (p.Gln451Ter)
c.1492C>T (p.Gln498Ter)
c.1162C>T (p.Gln388Ter)
c.1507C>T (p.Gln503Ter)
c.1744C>T (p.Gln582Ter)
c.1696C>T (p.Gln566Ter)
c.1555C>T (p.Gln519Ter)
c.1540C>T (p.Gln514Ter)
c.1399C>T (p.Gln467Ter)
c.1210C>T (p.Gln404Ter)
c.1195C>T (p.Gln399Ter)
c.700C>T (p.Gln234Ter)
c.511C>T (p.Gln171Ter)
10g.86716588A=CA1925631950LDB3n.515-2139A=
c.1304A= (p.Gln435=)
c.1352A= (p.Gln451=)
c.1493A= (p.Gln498=)
c.1163A= (p.Gln388=)
c.1508A= (p.Gln503=)
c.1745A= (p.Gln582=)
c.1697A= (p.Gln566=)
c.1556A= (p.Gln519=)
c.1541A= (p.Gln514=)
c.1400A= (p.Gln467=)
c.1211A= (p.Gln404=)
c.1196A= (p.Gln399=)
c.701A= (p.Gln234=)
c.512A= (p.Gln171=)
10g.86716588A>CCA377451005LDB3n.515-2139A>C
c.1304A>C (p.Gln435Pro)
c.1352A>C (p.Gln451Pro)
c.1493A>C (p.Gln498Pro)
c.1163A>C (p.Gln388Pro)
c.1508A>C (p.Gln503Pro)
c.1745A>C (p.Gln582Pro)
c.1697A>C (p.Gln566Pro)
c.1556A>C (p.Gln519Pro)
c.1541A>C (p.Gln514Pro)
c.1400A>C (p.Gln467Pro)
c.1211A>C (p.Gln404Pro)
c.1196A>C (p.Gln399Pro)
c.701A>C (p.Gln234Pro)
c.512A>C (p.Gln171Pro)
10g.86716588A>GCA5585170LDB3n.515-2139A>G
c.1304A>G (p.Gln435Arg)
c.1352A>G (p.Gln451Arg)
c.1493A>G (p.Gln498Arg)
c.1163A>G (p.Gln388Arg)
c.1508A>G (p.Gln503Arg)
c.1745A>G (p.Gln582Arg)
c.1697A>G (p.Gln566Arg)
c.1556A>G (p.Gln519Arg)
c.1541A>G (p.Gln514Arg)
c.1400A>G (p.Gln467Arg)
c.1211A>G (p.Gln404Arg)
c.1196A>G (p.Gln399Arg)
c.701A>G (p.Gln234Arg)
c.512A>G (p.Gln171Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.86716588A>TCA377451008LDB3n.515-2139A>T
c.1304A>T (p.Gln435Leu)
c.1352A>T (p.Gln451Leu)
c.1493A>T (p.Gln498Leu)
c.1163A>T (p.Gln388Leu)
c.1508A>T (p.Gln503Leu)
c.1745A>T (p.Gln582Leu)
c.1697A>T (p.Gln566Leu)
c.1556A>T (p.Gln519Leu)
c.1541A>T (p.Gln514Leu)
c.1400A>T (p.Gln467Leu)
c.1211A>T (p.Gln404Leu)
c.1196A>T (p.Gln399Leu)
c.701A>T (p.Gln234Leu)
c.512A>T (p.Gln171Leu)
10g.86716589G>ACA470375650LDB3n.515-2138G>A
c.1305G>A (p.Gln435=)
c.1353G>A (p.Gln451=)
c.1494G>A (p.Gln498=)
c.1164G>A (p.Gln388=)
c.1509G>A (p.Gln503=)
c.1746G>A (p.Gln582=)
c.1698G>A (p.Gln566=)
c.1557G>A (p.Gln519=)
c.1542G>A (p.Gln514=)
c.1401G>A (p.Gln467=)
c.1212G>A (p.Gln404=)
c.1197G>A (p.Gln399=)
c.702G>A (p.Gln234=)
c.513G>A (p.Gln171=)
10g.86716589G>CCA377451011LDB3n.515-2138G>C
c.1305G>C (p.Gln435His)
c.1353G>C (p.Gln451His)
c.1494G>C (p.Gln498His)
c.1164G>C (p.Gln388His)
c.1509G>C (p.Gln503His)
c.1746G>C (p.Gln582His)
c.1698G>C (p.Gln566His)
c.1557G>C (p.Gln519His)
c.1542G>C (p.Gln514His)
c.1401G>C (p.Gln467His)
c.1212G>C (p.Gln404His)
c.1197G>C (p.Gln399His)
c.702G>C (p.Gln234His)
c.513G>C (p.Gln171His)
10g.86716589G>TCA377451013LDB3n.515-2138G>T
c.1305G>T (p.Gln435His)
c.1353G>T (p.Gln451His)
c.1494G>T (p.Gln498His)
c.1164G>T (p.Gln388His)
c.1509G>T (p.Gln503His)
c.1746G>T (p.Gln582His)
c.1698G>T (p.Gln566His)
c.1557G>T (p.Gln519His)
c.1542G>T (p.Gln514His)
c.1401G>T (p.Gln467His)
c.1212G>T (p.Gln404His)
c.1197G>T (p.Gln399His)
c.702G>T (p.Gln234His)
c.513G>T (p.Gln171His)
10g.86716590A>CCA377451023LDB3n.515-2137A>C
c.1306A>C (p.Lys436Gln)
c.1354A>C (p.Lys452Gln)
c.1495A>C (p.Lys499Gln)
c.1165A>C (p.Lys389Gln)
c.1510A>C (p.Lys504Gln)
c.1747A>C (p.Lys583Gln)
c.1699A>C (p.Lys567Gln)
c.1558A>C (p.Lys520Gln)
c.1543A>C (p.Lys515Gln)
c.1402A>C (p.Lys468Gln)
c.1213A>C (p.Lys405Gln)
c.1198A>C (p.Lys400Gln)
c.703A>C (p.Lys235Gln)
c.514A>C (p.Lys172Gln)
10g.86716590A>GCA377451020LDB3n.515-2137A>G
c.1306A>G (p.Lys436Glu)
c.1354A>G (p.Lys452Glu)
c.1495A>G (p.Lys499Glu)
c.1165A>G (p.Lys389Glu)
c.1510A>G (p.Lys504Glu)
c.1747A>G (p.Lys583Glu)
c.1699A>G (p.Lys567Glu)
c.1558A>G (p.Lys520Glu)
c.1543A>G (p.Lys515Glu)
c.1402A>G (p.Lys468Glu)
c.1213A>G (p.Lys405Glu)
c.1198A>G (p.Lys400Glu)
c.703A>G (p.Lys235Glu)
c.514A>G (p.Lys172Glu)
10g.86716590A>TCA377451017LDB3n.515-2137A>T
c.1306A>T (p.Lys436Ter)
c.1354A>T (p.Lys452Ter)
c.1495A>T (p.Lys499Ter)
c.1165A>T (p.Lys389Ter)
c.1510A>T (p.Lys504Ter)
c.1747A>T (p.Lys583Ter)
c.1699A>T (p.Lys567Ter)
c.1558A>T (p.Lys520Ter)
c.1543A>T (p.Lys515Ter)
c.1402A>T (p.Lys468Ter)
c.1213A>T (p.Lys405Ter)
c.1198A>T (p.Lys400Ter)
c.703A>T (p.Lys235Ter)
c.514A>T (p.Lys172Ter)
10g.86716591dupCA2609997614LDB3n.515-2136dup
c.1307dup (p.Phe437ValfsTer?)
c.1355dup (p.Phe453ValfsTer?)
c.1496dup (p.Phe500ValfsTer?)
c.1166dup (p.Phe390ValfsTer?)
c.1511dup (p.Phe505ValfsTer?)
c.1748dup (p.Phe584ValfsTer?)
c.1700dup (p.Phe568ValfsTer?)
c.1559dup (p.Phe521ValfsTer?)
c.1544dup (p.Phe516ValfsTer?)
c.1403dup (p.Phe469ValfsTer?)
c.1214dup (p.Phe406ValfsTer?)
c.1199dup (p.Phe401ValfsTer?)
c.704dup (p.Phe236ValfsTer?)
c.515dup (p.Phe173ValfsTer?)
 gnomAD v4
10g.86716591A>CCA377451024LDB3n.515-2136A>C
c.1307A>C (p.Lys436Thr)
c.1355A>C (p.Lys452Thr)
c.1496A>C (p.Lys499Thr)
c.1166A>C (p.Lys389Thr)
c.1511A>C (p.Lys504Thr)
c.1748A>C (p.Lys583Thr)
c.1700A>C (p.Lys567Thr)
c.1559A>C (p.Lys520Thr)
c.1544A>C (p.Lys515Thr)
c.1403A>C (p.Lys468Thr)
c.1214A>C (p.Lys405Thr)
c.1199A>C (p.Lys400Thr)
c.704A>C (p.Lys235Thr)
c.515A>C (p.Lys172Thr)
10g.86716591A>GCA377451026LDB3n.515-2136A>G
c.1307A>G (p.Lys436Arg)
c.1355A>G (p.Lys452Arg)
c.1496A>G (p.Lys499Arg)
c.1166A>G (p.Lys389Arg)
c.1511A>G (p.Lys504Arg)
c.1748A>G (p.Lys583Arg)
c.1700A>G (p.Lys567Arg)
c.1559A>G (p.Lys520Arg)
c.1544A>G (p.Lys515Arg)
c.1403A>G (p.Lys468Arg)
c.1214A>G (p.Lys405Arg)
c.1199A>G (p.Lys400Arg)
c.704A>G (p.Lys235Arg)
c.515A>G (p.Lys172Arg)
10g.86716591A>TCA377451029LDB3n.515-2136A>T
c.1307A>T (p.Lys436Met)
c.1355A>T (p.Lys452Met)
c.1496A>T (p.Lys499Met)
c.1166A>T (p.Lys389Met)
c.1511A>T (p.Lys504Met)
c.1748A>T (p.Lys583Met)
c.1700A>T (p.Lys567Met)
c.1559A>T (p.Lys520Met)
c.1544A>T (p.Lys515Met)
c.1403A>T (p.Lys468Met)
c.1214A>T (p.Lys405Met)
c.1199A>T (p.Lys400Met)
c.704A>T (p.Lys235Met)
c.515A>T (p.Lys172Met)
10g.86716592G>ACA470375668LDB3n.515-2135G>A
c.1308G>A (p.Lys436=)
c.1356G>A (p.Lys452=)
c.1497G>A (p.Lys499=)
c.1167G>A (p.Lys389=)
c.1512G>A (p.Lys504=)
c.1749G>A (p.Lys583=)
c.1701G>A (p.Lys567=)
c.1560G>A (p.Lys520=)
c.1545G>A (p.Lys515=)
c.1404G>A (p.Lys468=)
c.1215G>A (p.Lys405=)
c.1200G>A (p.Lys400=)
c.705G>A (p.Lys235=)
c.516G>A (p.Lys172=)
 ClinVar gnomAD v4
10g.86716592G>CCA377451031LDB3n.515-2135G>C
c.1308G>C (p.Lys436Asn)
c.1356G>C (p.Lys452Asn)
c.1497G>C (p.Lys499Asn)
c.1167G>C (p.Lys389Asn)
c.1512G>C (p.Lys504Asn)
c.1749G>C (p.Lys583Asn)
c.1701G>C (p.Lys567Asn)
c.1560G>C (p.Lys520Asn)
c.1545G>C (p.Lys515Asn)
c.1404G>C (p.Lys468Asn)
c.1215G>C (p.Lys405Asn)
c.1200G>C (p.Lys400Asn)
c.705G>C (p.Lys235Asn)
c.516G>C (p.Lys172Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.86716592G=CA1925631951LDB3n.515-2135G=
c.1308G= (p.Lys436=)
c.1356G= (p.Lys452=)
c.1497G= (p.Lys499=)
c.1167G= (p.Lys389=)
c.1512G= (p.Lys504=)
c.1749G= (p.Lys583=)
c.1701G= (p.Lys567=)
c.1560G= (p.Lys520=)
c.1545G= (p.Lys515=)
c.1404G= (p.Lys468=)
c.1215G= (p.Lys405=)
c.1200G= (p.Lys400=)
c.705G= (p.Lys235=)
c.516G= (p.Lys172=)
10g.86716592G>TCA377451033LDB3n.515-2135G>T
c.1308G>T (p.Lys436Asn)
c.1356G>T (p.Lys452Asn)
c.1497G>T (p.Lys499Asn)
c.1167G>T (p.Lys389Asn)
c.1512G>T (p.Lys504Asn)
c.1749G>T (p.Lys583Asn)
c.1701G>T (p.Lys567Asn)
c.1560G>T (p.Lys520Asn)
c.1545G>T (p.Lys515Asn)
c.1404G>T (p.Lys468Asn)
c.1215G>T (p.Lys405Asn)
c.1200G>T (p.Lys400Asn)
c.705G>T (p.Lys235Asn)
c.516G>T (p.Lys172Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.86716593T>ACA377451037LDB3n.515-2134T>A
c.1309T>A (p.Phe437Ile)
c.1357T>A (p.Phe453Ile)
c.1498T>A (p.Phe500Ile)
c.1168T>A (p.Phe390Ile)
c.1513T>A (p.Phe505Ile)
c.1750T>A (p.Phe584Ile)
c.1702T>A (p.Phe568Ile)
c.1561T>A (p.Phe521Ile)
c.1546T>A (p.Phe516Ile)
c.1405T>A (p.Phe469Ile)
c.1216T>A (p.Phe406Ile)
c.1201T>A (p.Phe401Ile)
c.706T>A (p.Phe236Ile)
c.517T>A (p.Phe173Ile)
10g.86716593T>CCA377451039LDB3n.515-2134T>C
c.1309T>C (p.Phe437Leu)
c.1357T>C (p.Phe453Leu)
c.1498T>C (p.Phe500Leu)
c.1168T>C (p.Phe390Leu)
c.1513T>C (p.Phe505Leu)
c.1750T>C (p.Phe584Leu)
c.1702T>C (p.Phe568Leu)
c.1561T>C (p.Phe521Leu)
c.1546T>C (p.Phe516Leu)
c.1405T>C (p.Phe469Leu)
c.1216T>C (p.Phe406Leu)
c.1201T>C (p.Phe401Leu)
c.706T>C (p.Phe236Leu)
c.517T>C (p.Phe173Leu)
 ClinVar
10g.86716593T>GCA377451042LDB3n.515-2134T>G
c.1309T>G (p.Phe437Val)
c.1357T>G (p.Phe453Val)
c.1498T>G (p.Phe500Val)
c.1168T>G (p.Phe390Val)
c.1513T>G (p.Phe505Val)
c.1750T>G (p.Phe584Val)
c.1702T>G (p.Phe568Val)
c.1561T>G (p.Phe521Val)
c.1546T>G (p.Phe516Val)
c.1405T>G (p.Phe469Val)
c.1216T>G (p.Phe406Val)
c.1201T>G (p.Phe401Val)
c.706T>G (p.Phe236Val)
c.517T>G (p.Phe173Val)
10g.86716594T>ACA377451045LDB3n.515-2133T>A
c.1310T>A (p.Phe437Tyr)
c.1358T>A (p.Phe453Tyr)
c.1499T>A (p.Phe500Tyr)
c.1169T>A (p.Phe390Tyr)
c.1514T>A (p.Phe505Tyr)
c.1751T>A (p.Phe584Tyr)
c.1703T>A (p.Phe568Tyr)
c.1562T>A (p.Phe521Tyr)
c.1547T>A (p.Phe516Tyr)
c.1406T>A (p.Phe469Tyr)
c.1217T>A (p.Phe406Tyr)
c.1202T>A (p.Phe401Tyr)
c.707T>A (p.Phe236Tyr)
c.518T>A (p.Phe173Tyr)
10g.86716594T>CCA377451048LDB3n.515-2133T>C
c.1310T>C (p.Phe437Ser)
c.1358T>C (p.Phe453Ser)
c.1499T>C (p.Phe500Ser)
c.1169T>C (p.Phe390Ser)
c.1514T>C (p.Phe505Ser)
c.1751T>C (p.Phe584Ser)
c.1703T>C (p.Phe568Ser)
c.1562T>C (p.Phe521Ser)
c.1547T>C (p.Phe516Ser)
c.1406T>C (p.Phe469Ser)
c.1217T>C (p.Phe406Ser)
c.1202T>C (p.Phe401Ser)
c.707T>C (p.Phe236Ser)
c.518T>C (p.Phe173Ser)
10g.86716594T>GCA377451049LDB3n.515-2133T>G
c.1310T>G (p.Phe437Cys)
c.1358T>G (p.Phe453Cys)
c.1499T>G (p.Phe500Cys)
c.1169T>G (p.Phe390Cys)
c.1514T>G (p.Phe505Cys)
c.1751T>G (p.Phe584Cys)
c.1703T>G (p.Phe568Cys)
c.1562T>G (p.Phe521Cys)
c.1547T>G (p.Phe516Cys)
c.1406T>G (p.Phe469Cys)
c.1217T>G (p.Phe406Cys)
c.1202T>G (p.Phe401Cys)
c.707T>G (p.Phe236Cys)
c.518T>G (p.Phe173Cys)
10g.86716595T>ACA377451051LDB3n.515-2132T>A
c.1311T>A (p.Phe437Leu)
c.1359T>A (p.Phe453Leu)
c.1500T>A (p.Phe500Leu)
c.1170T>A (p.Phe390Leu)
c.1515T>A (p.Phe505Leu)
c.1752T>A (p.Phe584Leu)
c.1704T>A (p.Phe568Leu)
c.1563T>A (p.Phe521Leu)
c.1548T>A (p.Phe516Leu)
c.1407T>A (p.Phe469Leu)
c.1218T>A (p.Phe406Leu)
c.1203T>A (p.Phe401Leu)
c.708T>A (p.Phe236Leu)
c.519T>A (p.Phe173Leu)
10g.86716595T>CCA470375683LDB3n.515-2132T>C
c.1311T>C (p.Phe437=)
c.1359T>C (p.Phe453=)
c.1500T>C (p.Phe500=)
c.1170T>C (p.Phe390=)
c.1515T>C (p.Phe505=)
c.1752T>C (p.Phe584=)
c.1704T>C (p.Phe568=)
c.1563T>C (p.Phe521=)
c.1548T>C (p.Phe516=)
c.1407T>C (p.Phe469=)
c.1218T>C (p.Phe406=)
c.1203T>C (p.Phe401=)
c.708T>C (p.Phe236=)
c.519T>C (p.Phe173=)
10g.86716595T>GCA377451053LDB3n.515-2132T>G
c.1311T>G (p.Phe437Leu)
c.1359T>G (p.Phe453Leu)
c.1500T>G (p.Phe500Leu)
c.1170T>G (p.Phe390Leu)
c.1515T>G (p.Phe505Leu)
c.1752T>G (p.Phe584Leu)
c.1704T>G (p.Phe568Leu)
c.1563T>G (p.Phe521Leu)
c.1548T>G (p.Phe516Leu)
c.1407T>G (p.Phe469Leu)
c.1218T>G (p.Phe406Leu)
c.1203T>G (p.Phe401Leu)
c.708T>G (p.Phe236Leu)
c.519T>G (p.Phe173Leu)
10g.86716596G>ACA377451059LDB3n.515-2131G>A
c.1312G>A (p.Ala438Thr)
c.1360G>A (p.Ala454Thr)
c.1501G>A (p.Ala501Thr)
c.1171G>A (p.Ala391Thr)
c.1516G>A (p.Ala506Thr)
c.1753G>A (p.Ala585Thr)
c.1705G>A (p.Ala569Thr)
c.1564G>A (p.Ala522Thr)
c.1549G>A (p.Ala517Thr)
c.1408G>A (p.Ala470Thr)
c.1219G>A (p.Ala407Thr)
c.1204G>A (p.Ala402Thr)
c.709G>A (p.Ala237Thr)
c.520G>A (p.Ala174Thr)
 gnomAD v4
10g.86716596G>CCA377451057LDB3n.515-2131G>C
c.1312G>C (p.Ala438Pro)
c.1360G>C (p.Ala454Pro)
c.1501G>C (p.Ala501Pro)
c.1171G>C (p.Ala391Pro)
c.1516G>C (p.Ala506Pro)
c.1753G>C (p.Ala585Pro)
c.1705G>C (p.Ala569Pro)
c.1564G>C (p.Ala522Pro)
c.1549G>C (p.Ala517Pro)
c.1408G>C (p.Ala470Pro)
c.1219G>C (p.Ala407Pro)
c.1204G>C (p.Ala402Pro)
c.709G>C (p.Ala237Pro)
c.520G>C (p.Ala174Pro)
10g.86716596G>TCA377451055LDB3n.515-2131G>T
c.1312G>T (p.Ala438Ser)
c.1360G>T (p.Ala454Ser)
c.1501G>T (p.Ala501Ser)
c.1171G>T (p.Ala391Ser)
c.1516G>T (p.Ala506Ser)
c.1753G>T (p.Ala585Ser)
c.1705G>T (p.Ala569Ser)
c.1564G>T (p.Ala522Ser)
c.1549G>T (p.Ala517Ser)
c.1408G>T (p.Ala470Ser)
c.1219G>T (p.Ala407Ser)
c.1204G>T (p.Ala402Ser)
c.709G>T (p.Ala237Ser)
c.520G>T (p.Ala174Ser)
10g.86716597C>ACA377451061LDB3n.515-2130C>A
c.1313C>A (p.Ala438Asp)
c.1361C>A (p.Ala454Asp)
c.1502C>A (p.Ala501Asp)
c.1172C>A (p.Ala391Asp)
c.1517C>A (p.Ala506Asp)
c.1754C>A (p.Ala585Asp)
c.1706C>A (p.Ala569Asp)
c.1565C>A (p.Ala522Asp)
c.1550C>A (p.Ala517Asp)
c.1409C>A (p.Ala470Asp)
c.1220C>A (p.Ala407Asp)
c.1205C>A (p.Ala402Asp)
c.710C>A (p.Ala237Asp)
c.521C>A (p.Ala174Asp)
10g.86716597C=CA1925631952LDB3n.515-2130C=
c.1313C= (p.Ala438=)
c.1361C= (p.Ala454=)
c.1502C= (p.Ala501=)
c.1172C= (p.Ala391=)
c.1517C= (p.Ala506=)
c.1754C= (p.Ala585=)
c.1706C= (p.Ala569=)
c.1565C= (p.Ala522=)
c.1550C= (p.Ala517=)
c.1409C= (p.Ala470=)
c.1220C= (p.Ala407=)
c.1205C= (p.Ala402=)
c.710C= (p.Ala237=)
c.521C= (p.Ala174=)
10g.86716597C>GCA377451064LDB3n.515-2130C>G
c.1313C>G (p.Ala438Gly)
c.1361C>G (p.Ala454Gly)
c.1502C>G (p.Ala501Gly)
c.1172C>G (p.Ala391Gly)
c.1517C>G (p.Ala506Gly)
c.1754C>G (p.Ala585Gly)
c.1706C>G (p.Ala569Gly)
c.1565C>G (p.Ala522Gly)
c.1550C>G (p.Ala517Gly)
c.1409C>G (p.Ala470Gly)
c.1220C>G (p.Ala407Gly)
c.1205C>G (p.Ala402Gly)
c.710C>G (p.Ala237Gly)
c.521C>G (p.Ala174Gly)
10g.86716597C>TCA5585171LDB3n.515-2130C>T
c.1313C>T (p.Ala438Val)
c.1361C>T (p.Ala454Val)
c.1502C>T (p.Ala501Val)
c.1172C>T (p.Ala391Val)
c.1517C>T (p.Ala506Val)
c.1754C>T (p.Ala585Val)
c.1706C>T (p.Ala569Val)
c.1565C>T (p.Ala522Val)
c.1550C>T (p.Ala517Val)
c.1409C>T (p.Ala470Val)
c.1220C>T (p.Ala407Val)
c.1205C>T (p.Ala402Val)
c.710C>T (p.Ala237Val)
c.521C>T (p.Ala174Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716598C>ACA470375705LDB3n.515-2129C>A
c.1314C>A (p.Ala438=)
c.1362C>A (p.Ala454=)
c.1503C>A (p.Ala501=)
c.1173C>A (p.Ala391=)
c.1518C>A (p.Ala506=)
c.1755C>A (p.Ala585=)
c.1707C>A (p.Ala569=)
c.1566C>A (p.Ala522=)
c.1551C>A (p.Ala517=)
c.1410C>A (p.Ala470=)
c.1221C>A (p.Ala407=)
c.1206C>A (p.Ala402=)
c.711C>A (p.Ala237=)
c.522C>A (p.Ala174=)
10g.86716598C=CA1925631953LDB3n.515-2129C=
c.1314C= (p.Ala438=)
c.1362C= (p.Ala454=)
c.1503C= (p.Ala501=)
c.1173C= (p.Ala391=)
c.1518C= (p.Ala506=)
c.1755C= (p.Ala585=)
c.1707C= (p.Ala569=)
c.1566C= (p.Ala522=)
c.1551C= (p.Ala517=)
c.1410C= (p.Ala470=)
c.1221C= (p.Ala407=)
c.1206C= (p.Ala402=)
c.711C= (p.Ala237=)
c.522C= (p.Ala174=)
10g.86716598C>GCA470375707LDB3n.515-2129C>G
c.1314C>G (p.Ala438=)
c.1362C>G (p.Ala454=)
c.1503C>G (p.Ala501=)
c.1173C>G (p.Ala391=)
c.1518C>G (p.Ala506=)
c.1755C>G (p.Ala585=)
c.1707C>G (p.Ala569=)
c.1566C>G (p.Ala522=)
c.1551C>G (p.Ala517=)
c.1410C>G (p.Ala470=)
c.1221C>G (p.Ala407=)
c.1206C>G (p.Ala402=)
c.711C>G (p.Ala237=)
c.522C>G (p.Ala174=)
10g.86716598C>TCA136533LDB3n.515-2129C>T
c.1314C>T (p.Ala438=)
c.1362C>T (p.Ala454=)
c.1503C>T (p.Ala501=)
c.1173C>T (p.Ala391=)
c.1518C>T (p.Ala506=)
c.1755C>T (p.Ala585=)
c.1707C>T (p.Ala569=)
c.1566C>T (p.Ala522=)
c.1551C>T (p.Ala517=)
c.1410C>T (p.Ala470=)
c.1221C>T (p.Ala407=)
c.1206C>T (p.Ala402=)
c.711C>T (p.Ala237=)
c.522C>T (p.Ala174=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716599C>ACA377451068LDB3n.515-2128C>A
c.1315C>A (p.Pro439Thr)
c.1363C>A (p.Pro455Thr)
c.1504C>A (p.Pro502Thr)
c.1174C>A (p.Pro392Thr)
c.1519C>A (p.Pro507Thr)
c.1756C>A (p.Pro586Thr)
c.1708C>A (p.Pro570Thr)
c.1567C>A (p.Pro523Thr)
c.1552C>A (p.Pro518Thr)
c.1411C>A (p.Pro471Thr)
c.1222C>A (p.Pro408Thr)
c.1207C>A (p.Pro403Thr)
c.712C>A (p.Pro238Thr)
c.523C>A (p.Pro175Thr)
10g.86716599C>GCA377451069LDB3n.515-2128C>G
c.1315C>G (p.Pro439Ala)
c.1363C>G (p.Pro455Ala)
c.1504C>G (p.Pro502Ala)
c.1174C>G (p.Pro392Ala)
c.1519C>G (p.Pro507Ala)
c.1756C>G (p.Pro586Ala)
c.1708C>G (p.Pro570Ala)
c.1567C>G (p.Pro523Ala)
c.1552C>G (p.Pro518Ala)
c.1411C>G (p.Pro471Ala)
c.1222C>G (p.Pro408Ala)
c.1207C>G (p.Pro403Ala)
c.712C>G (p.Pro238Ala)
c.523C>G (p.Pro175Ala)
10g.86716599C>TCA377451071LDB3n.515-2128C>T
c.1315C>T (p.Pro439Ser)
c.1363C>T (p.Pro455Ser)
c.1504C>T (p.Pro502Ser)
c.1174C>T (p.Pro392Ser)
c.1519C>T (p.Pro507Ser)
c.1756C>T (p.Pro586Ser)
c.1708C>T (p.Pro570Ser)
c.1567C>T (p.Pro523Ser)
c.1552C>T (p.Pro518Ser)
c.1411C>T (p.Pro471Ser)
c.1222C>T (p.Pro408Ser)
c.1207C>T (p.Pro403Ser)
c.712C>T (p.Pro238Ser)
c.523C>T (p.Pro175Ser)
10g.86716600C>ACA377451073LDB3n.515-2127C>A
c.1316C>A (p.Pro439Gln)
c.1364C>A (p.Pro455Gln)
c.1505C>A (p.Pro502Gln)
c.1175C>A (p.Pro392Gln)
c.1520C>A (p.Pro507Gln)
c.1757C>A (p.Pro586Gln)
c.1709C>A (p.Pro570Gln)
c.1568C>A (p.Pro523Gln)
c.1553C>A (p.Pro518Gln)
c.1412C>A (p.Pro471Gln)
c.1223C>A (p.Pro408Gln)
c.1208C>A (p.Pro403Gln)
c.713C>A (p.Pro238Gln)
c.524C>A (p.Pro175Gln)
10g.86716600C=CA1925631954LDB3n.515-2127C=
c.1316C= (p.Pro439=)
c.1364C= (p.Pro455=)
c.1505C= (p.Pro502=)
c.1175C= (p.Pro392=)
c.1520C= (p.Pro507=)
c.1757C= (p.Pro586=)
c.1709C= (p.Pro570=)
c.1568C= (p.Pro523=)
c.1553C= (p.Pro518=)
c.1412C= (p.Pro471=)
c.1223C= (p.Pro408=)
c.1208C= (p.Pro403=)
c.713C= (p.Pro238=)
c.524C= (p.Pro175=)
10g.86716600C>GCA377451074LDB3n.515-2127C>G
c.1316C>G (p.Pro439Arg)
c.1364C>G (p.Pro455Arg)
c.1505C>G (p.Pro502Arg)
c.1175C>G (p.Pro392Arg)
c.1520C>G (p.Pro507Arg)
c.1757C>G (p.Pro586Arg)
c.1709C>G (p.Pro570Arg)
c.1568C>G (p.Pro523Arg)
c.1553C>G (p.Pro518Arg)
c.1412C>G (p.Pro471Arg)
c.1223C>G (p.Pro408Arg)
c.1208C>G (p.Pro403Arg)
c.713C>G (p.Pro238Arg)
c.524C>G (p.Pro175Arg)
10g.86716600C>TCA5585172LDB3n.515-2127C>T
c.1316C>T (p.Pro439Leu)
c.1364C>T (p.Pro455Leu)
c.1505C>T (p.Pro502Leu)
c.1175C>T (p.Pro392Leu)
c.1520C>T (p.Pro507Leu)
c.1757C>T (p.Pro586Leu)
c.1709C>T (p.Pro570Leu)
c.1568C>T (p.Pro523Leu)
c.1553C>T (p.Pro518Leu)
c.1412C>T (p.Pro471Leu)
c.1223C>T (p.Pro408Leu)
c.1208C>T (p.Pro403Leu)
c.713C>T (p.Pro238Leu)
c.524C>T (p.Pro175Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
10g.86716601G>ACA136536LDB3n.515-2126G>A
c.1317G>A (p.Pro439=)
c.1365G>A (p.Pro455=)
c.1506G>A (p.Pro502=)
c.1176G>A (p.Pro392=)
c.1521G>A (p.Pro507=)
c.1758G>A (p.Pro586=)
c.1710G>A (p.Pro570=)
c.1569G>A (p.Pro523=)
c.1554G>A (p.Pro518=)
c.1413G>A (p.Pro471=)
c.1224G>A (p.Pro408=)
c.1209G>A (p.Pro403=)
c.714G>A (p.Pro238=)
c.525G>A (p.Pro175=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716601G>CCA470375725LDB3n.515-2126G>C
c.1317G>C (p.Pro439=)
c.1365G>C (p.Pro455=)
c.1506G>C (p.Pro502=)
c.1176G>C (p.Pro392=)
c.1521G>C (p.Pro507=)
c.1758G>C (p.Pro586=)
c.1710G>C (p.Pro570=)
c.1569G>C (p.Pro523=)
c.1554G>C (p.Pro518=)
c.1413G>C (p.Pro471=)
c.1224G>C (p.Pro408=)
c.1209G>C (p.Pro403=)
c.714G>C (p.Pro238=)
c.525G>C (p.Pro175=)
10g.86716601G=CA1925631955LDB3n.515-2126G=
c.1317G= (p.Pro439=)
c.1365G= (p.Pro455=)
c.1506G= (p.Pro502=)
c.1176G= (p.Pro392=)
c.1521G= (p.Pro507=)
c.1758G= (p.Pro586=)
c.1710G= (p.Pro570=)
c.1569G= (p.Pro523=)
c.1554G= (p.Pro518=)
c.1413G= (p.Pro471=)
c.1224G= (p.Pro408=)
c.1209G= (p.Pro403=)
c.714G= (p.Pro238=)
c.525G= (p.Pro175=)
10g.86716601G>TCA470375729LDB3n.515-2126G>T
c.1317G>T (p.Pro439=)
c.1365G>T (p.Pro455=)
c.1506G>T (p.Pro502=)
c.1176G>T (p.Pro392=)
c.1521G>T (p.Pro507=)
c.1758G>T (p.Pro586=)
c.1710G>T (p.Pro570=)
c.1569G>T (p.Pro523=)
c.1554G>T (p.Pro518=)
c.1413G>T (p.Pro471=)
c.1224G>T (p.Pro408=)
c.1209G>T (p.Pro403=)
c.714G>T (p.Pro238=)
c.525G>T (p.Pro175=)
 gnomAD v4
10g.86716602G>ACA377451079LDB3n.515-2125G>A
c.1318G>A (p.Gly440Ser)
c.1366G>A (p.Gly456Ser)
c.1507G>A (p.Gly503Ser)
c.1177G>A (p.Gly393Ser)
c.1522G>A (p.Gly508Ser)
c.1759G>A (p.Gly587Ser)
c.1711G>A (p.Gly571Ser)
c.1570G>A (p.Gly524Ser)
c.1555G>A (p.Gly519Ser)
c.1414G>A (p.Gly472Ser)
c.1225G>A (p.Gly409Ser)
c.1210G>A (p.Gly404Ser)
c.715G>A (p.Gly239Ser)
c.526G>A (p.Gly176Ser)
 ClinVar gnomAD v4
10g.86716602G>CCA377451081LDB3n.515-2125G>C
c.1318G>C (p.Gly440Arg)
c.1366G>C (p.Gly456Arg)
c.1507G>C (p.Gly503Arg)
c.1177G>C (p.Gly393Arg)
c.1522G>C (p.Gly508Arg)
c.1759G>C (p.Gly587Arg)
c.1711G>C (p.Gly571Arg)
c.1570G>C (p.Gly524Arg)
c.1555G>C (p.Gly519Arg)
c.1414G>C (p.Gly472Arg)
c.1225G>C (p.Gly409Arg)
c.1210G>C (p.Gly404Arg)
c.715G>C (p.Gly239Arg)
c.526G>C (p.Gly176Arg)
10g.86716602G>TCA377451082LDB3n.515-2125G>T
c.1318G>T (p.Gly440Cys)
c.1366G>T (p.Gly456Cys)
c.1507G>T (p.Gly503Cys)
c.1177G>T (p.Gly393Cys)
c.1522G>T (p.Gly508Cys)
c.1759G>T (p.Gly587Cys)
c.1711G>T (p.Gly571Cys)
c.1570G>T (p.Gly524Cys)
c.1555G>T (p.Gly519Cys)
c.1414G>T (p.Gly472Cys)
c.1225G>T (p.Gly409Cys)
c.1210G>T (p.Gly404Cys)
c.715G>T (p.Gly239Cys)
c.526G>T (p.Gly176Cys)
 gnomAD v4
10g.86716603G>ACA5585173LDB3n.515-2124G>A
c.1319G>A (p.Gly440Asp)
c.1367G>A (p.Gly456Asp)
c.1508G>A (p.Gly503Asp)
c.1178G>A (p.Gly393Asp)
c.1523G>A (p.Gly508Asp)
c.1760G>A (p.Gly587Asp)
c.1712G>A (p.Gly571Asp)
c.1571G>A (p.Gly524Asp)
c.1556G>A (p.Gly519Asp)
c.1415G>A (p.Gly472Asp)
c.1226G>A (p.Gly409Asp)
c.1211G>A (p.Gly404Asp)
c.716G>A (p.Gly239Asp)
c.527G>A (p.Gly176Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.86716603G>CCA377451084LDB3n.515-2124G>C
c.1319G>C (p.Gly440Ala)
c.1367G>C (p.Gly456Ala)
c.1508G>C (p.Gly503Ala)
c.1178G>C (p.Gly393Ala)
c.1523G>C (p.Gly508Ala)
c.1760G>C (p.Gly587Ala)
c.1712G>C (p.Gly571Ala)
c.1571G>C (p.Gly524Ala)
c.1556G>C (p.Gly519Ala)
c.1415G>C (p.Gly472Ala)
c.1226G>C (p.Gly409Ala)
c.1211G>C (p.Gly404Ala)
c.716G>C (p.Gly239Ala)
c.527G>C (p.Gly176Ala)
10g.86716603G=CA1925631956LDB3n.515-2124G=
c.1319G= (p.Gly440=)
c.1367G= (p.Gly456=)
c.1508G= (p.Gly503=)
c.1178G= (p.Gly393=)
c.1523G= (p.Gly508=)
c.1760G= (p.Gly587=)
c.1712G= (p.Gly571=)
c.1571G= (p.Gly524=)
c.1556G= (p.Gly519=)
c.1415G= (p.Gly472=)
c.1226G= (p.Gly409=)
c.1211G= (p.Gly404=)
c.716G= (p.Gly239=)
c.527G= (p.Gly176=)
10g.86716603G>TCA377451086LDB3n.515-2124G>T
c.1319G>T (p.Gly440Val)
c.1367G>T (p.Gly456Val)
c.1508G>T (p.Gly503Val)
c.1178G>T (p.Gly393Val)
c.1523G>T (p.Gly508Val)
c.1760G>T (p.Gly587Val)
c.1712G>T (p.Gly571Val)
c.1571G>T (p.Gly524Val)
c.1556G>T (p.Gly519Val)
c.1415G>T (p.Gly472Val)
c.1226G>T (p.Gly409Val)
c.1211G>T (p.Gly404Val)
c.716G>T (p.Gly239Val)
c.527G>T (p.Gly176Val)
10g.86716604delCA2574457143LDB3n.515-2123del
c.1320del (p.Lys441ArgfsTer?)
c.1368del (p.Lys457ArgfsTer?)
c.1509del (p.Lys504ArgfsTer?)
c.1179del (p.Lys394ArgfsTer?)
c.1524del (p.Lys509ArgfsTer?)
c.1761del (p.Lys588ArgfsTer?)
c.1713del (p.Lys572ArgfsTer?)
c.1572del (p.Lys525ArgfsTer?)
c.1557del (p.Lys520ArgfsTer?)
c.1416del (p.Lys473ArgfsTer?)
c.1227del (p.Lys410ArgfsTer?)
c.1212del (p.Lys405ArgfsTer?)
c.717del (p.Lys240ArgfsTer?)
c.528del (p.Lys177ArgfsTer?)
10g.86716604C>ACA470375748LDB3n.515-2123C>A
c.1320C>A (p.Gly440=)
c.1368C>A (p.Gly456=)
c.1509C>A (p.Gly503=)
c.1179C>A (p.Gly393=)
c.1524C>A (p.Gly508=)
c.1761C>A (p.Gly587=)
c.1713C>A (p.Gly571=)
c.1572C>A (p.Gly524=)
c.1557C>A (p.Gly519=)
c.1416C>A (p.Gly472=)
c.1227C>A (p.Gly409=)
c.1212C>A (p.Gly404=)
c.717C>A (p.Gly239=)
c.528C>A (p.Gly176=)
 COSMIC COSMIC COSMIC
10g.86716604C>GCA470375746LDB3n.515-2123C>G
c.1320C>G (p.Gly440=)
c.1368C>G (p.Gly456=)
c.1509C>G (p.Gly503=)
c.1179C>G (p.Gly393=)
c.1524C>G (p.Gly508=)
c.1761C>G (p.Gly587=)
c.1713C>G (p.Gly571=)
c.1572C>G (p.Gly524=)
c.1557C>G (p.Gly519=)
c.1416C>G (p.Gly472=)
c.1227C>G (p.Gly409=)
c.1212C>G (p.Gly404=)
c.717C>G (p.Gly239=)
c.528C>G (p.Gly176=)
 gnomAD v4
10g.86716604C>TCA470375745LDB3n.515-2123C>T
c.1320C>T (p.Gly440=)
c.1368C>T (p.Gly456=)
c.1509C>T (p.Gly503=)
c.1179C>T (p.Gly393=)
c.1524C>T (p.Gly508=)
c.1761C>T (p.Gly587=)
c.1713C>T (p.Gly571=)
c.1572C>T (p.Gly524=)
c.1557C>T (p.Gly519=)
c.1416C>T (p.Gly472=)
c.1227C>T (p.Gly409=)
c.1212C>T (p.Gly404=)
c.717C>T (p.Gly239=)
c.528C>T (p.Gly176=)
10g.86716605A>CCA377451088LDB3n.515-2122A>C
c.1321A>C (p.Lys441Gln)
c.1369A>C (p.Lys457Gln)
c.1510A>C (p.Lys504Gln)
c.1180A>C (p.Lys394Gln)
c.1525A>C (p.Lys509Gln)
c.1762A>C (p.Lys588Gln)
c.1714A>C (p.Lys572Gln)
c.1573A>C (p.Lys525Gln)
c.1558A>C (p.Lys520Gln)
c.1417A>C (p.Lys473Gln)
c.1228A>C (p.Lys410Gln)
c.1213A>C (p.Lys405Gln)
c.718A>C (p.Lys240Gln)
c.529A>C (p.Lys177Gln)
10g.86716605A>GCA377451092LDB3n.515-2122A>G
c.1321A>G (p.Lys441Glu)
c.1369A>G (p.Lys457Glu)
c.1510A>G (p.Lys504Glu)
c.1180A>G (p.Lys394Glu)
c.1525A>G (p.Lys509Glu)
c.1762A>G (p.Lys588Glu)
c.1714A>G (p.Lys572Glu)
c.1573A>G (p.Lys525Glu)
c.1558A>G (p.Lys520Glu)
c.1417A>G (p.Lys473Glu)
c.1228A>G (p.Lys410Glu)
c.1213A>G (p.Lys405Glu)
c.718A>G (p.Lys240Glu)
c.529A>G (p.Lys177Glu)
10g.86716605A>TCA377451090LDB3n.515-2122A>T
c.1321A>T (p.Lys441Ter)
c.1369A>T (p.Lys457Ter)
c.1510A>T (p.Lys504Ter)
c.1180A>T (p.Lys394Ter)
c.1525A>T (p.Lys509Ter)
c.1762A>T (p.Lys588Ter)
c.1714A>T (p.Lys572Ter)
c.1573A>T (p.Lys525Ter)
c.1558A>T (p.Lys520Ter)
c.1417A>T (p.Lys473Ter)
c.1228A>T (p.Lys410Ter)
c.1213A>T (p.Lys405Ter)
c.718A>T (p.Lys240Ter)
c.529A>T (p.Lys177Ter)
10g.86716606A>CCA377451094LDB3n.515-2121A>C
c.1322A>C (p.Lys441Thr)
c.1370A>C (p.Lys457Thr)
c.1511A>C (p.Lys504Thr)
c.1181A>C (p.Lys394Thr)
c.1526A>C (p.Lys509Thr)
c.1763A>C (p.Lys588Thr)
c.1715A>C (p.Lys572Thr)
c.1574A>C (p.Lys525Thr)
c.1559A>C (p.Lys520Thr)
c.1418A>C (p.Lys473Thr)
c.1229A>C (p.Lys410Thr)
c.1214A>C (p.Lys405Thr)
c.719A>C (p.Lys240Thr)
c.530A>C (p.Lys177Thr)
10g.86716606A>GCA377451096LDB3n.515-2121A>G
c.1322A>G (p.Lys441Arg)
c.1370A>G (p.Lys457Arg)
c.1511A>G (p.Lys504Arg)
c.1181A>G (p.Lys394Arg)
c.1526A>G (p.Lys509Arg)
c.1763A>G (p.Lys588Arg)
c.1715A>G (p.Lys572Arg)
c.1574A>G (p.Lys525Arg)
c.1559A>G (p.Lys520Arg)
c.1418A>G (p.Lys473Arg)
c.1229A>G (p.Lys410Arg)
c.1214A>G (p.Lys405Arg)
c.719A>G (p.Lys240Arg)
c.530A>G (p.Lys177Arg)
10g.86716606A>TCA377451098LDB3n.515-2121A>T
c.1322A>T (p.Lys441Met)
c.1370A>T (p.Lys457Met)
c.1511A>T (p.Lys504Met)
c.1181A>T (p.Lys394Met)
c.1526A>T (p.Lys509Met)
c.1763A>T (p.Lys588Met)
c.1715A>T (p.Lys572Met)
c.1574A>T (p.Lys525Met)
c.1559A>T (p.Lys520Met)
c.1418A>T (p.Lys473Met)
c.1229A>T (p.Lys410Met)
c.1214A>T (p.Lys405Met)
c.719A>T (p.Lys240Met)
c.530A>T (p.Lys177Met)
10g.86716607G>ACA470375763LDB3n.515-2120G>A
c.1323G>A (p.Lys441=)
c.1371G>A (p.Lys457=)
c.1512G>A (p.Lys504=)
c.1182G>A (p.Lys394=)
c.1527G>A (p.Lys509=)
c.1764G>A (p.Lys588=)
c.1716G>A (p.Lys572=)
c.1575G>A (p.Lys525=)
c.1560G>A (p.Lys520=)
c.1419G>A (p.Lys473=)
c.1230G>A (p.Lys410=)
c.1215G>A (p.Lys405=)
c.720G>A (p.Lys240=)
c.531G>A (p.Lys177=)
 gnomAD v4
10g.86716607G>CCA377451100LDB3n.515-2120G>C
c.1323G>C (p.Lys441Asn)
c.1371G>C (p.Lys457Asn)
c.1512G>C (p.Lys504Asn)
c.1182G>C (p.Lys394Asn)
c.1527G>C (p.Lys509Asn)
c.1764G>C (p.Lys588Asn)
c.1716G>C (p.Lys572Asn)
c.1575G>C (p.Lys525Asn)
c.1560G>C (p.Lys520Asn)
c.1419G>C (p.Lys473Asn)
c.1230G>C (p.Lys410Asn)
c.1215G>C (p.Lys405Asn)
c.720G>C (p.Lys240Asn)
c.531G>C (p.Lys177Asn)
10g.86716607G>TCA377451101LDB3n.515-2120G>T
c.1323G>T (p.Lys441Asn)
c.1371G>T (p.Lys457Asn)
c.1512G>T (p.Lys504Asn)
c.1182G>T (p.Lys394Asn)
c.1527G>T (p.Lys509Asn)
c.1764G>T (p.Lys588Asn)
c.1716G>T (p.Lys572Asn)
c.1575G>T (p.Lys525Asn)
c.1560G>T (p.Lys520Asn)
c.1419G>T (p.Lys473Asn)
c.1230G>T (p.Lys410Asn)
c.1215G>T (p.Lys405Asn)
c.720G>T (p.Lys240Asn)
c.531G>T (p.Lys177Asn)
10g.86716608A>CCA377451103LDB3n.515-2119A>C
c.1324A>C (p.Ser442Arg)
c.1372A>C (p.Ser458Arg)
c.1513A>C (p.Ser505Arg)
c.1183A>C (p.Ser395Arg)
c.1528A>C (p.Ser510Arg)
c.1765A>C (p.Ser589Arg)
c.1717A>C (p.Ser573Arg)
c.1576A>C (p.Ser526Arg)
c.1561A>C (p.Ser521Arg)
c.1420A>C (p.Ser474Arg)
c.1231A>C (p.Ser411Arg)
c.1216A>C (p.Ser406Arg)
c.721A>C (p.Ser241Arg)
c.532A>C (p.Ser178Arg)
10g.86716608A>GCA377451105LDB3n.515-2119A>G
c.1324A>G (p.Ser442Gly)
c.1372A>G (p.Ser458Gly)
c.1513A>G (p.Ser505Gly)
c.1183A>G (p.Ser395Gly)
c.1528A>G (p.Ser510Gly)
c.1765A>G (p.Ser589Gly)
c.1717A>G (p.Ser573Gly)
c.1576A>G (p.Ser526Gly)
c.1561A>G (p.Ser521Gly)
c.1420A>G (p.Ser474Gly)
c.1231A>G (p.Ser411Gly)
c.1216A>G (p.Ser406Gly)
c.721A>G (p.Ser241Gly)
c.532A>G (p.Ser178Gly)
10g.86716608A>TCA377451107LDB3n.515-2119A>T
c.1324A>T (p.Ser442Cys)
c.1372A>T (p.Ser458Cys)
c.1513A>T (p.Ser505Cys)
c.1183A>T (p.Ser395Cys)
c.1528A>T (p.Ser510Cys)
c.1765A>T (p.Ser589Cys)
c.1717A>T (p.Ser573Cys)
c.1576A>T (p.Ser526Cys)
c.1561A>T (p.Ser521Cys)
c.1420A>T (p.Ser474Cys)
c.1231A>T (p.Ser411Cys)
c.1216A>T (p.Ser406Cys)
c.721A>T (p.Ser241Cys)
c.532A>T (p.Ser178Cys)
10g.86716609G>ACA5585174LDB3n.515-2118G>A
c.1325G>A (p.Ser442Asn)
c.1373G>A (p.Ser458Asn)
c.1514G>A (p.Ser505Asn)
c.1184G>A (p.Ser395Asn)
c.1529G>A (p.Ser510Asn)
c.1766G>A (p.Ser589Asn)
c.1718G>A (p.Ser573Asn)
c.1577G>A (p.Ser526Asn)
c.1562G>A (p.Ser521Asn)
c.1421G>A (p.Ser474Asn)
c.1232G>A (p.Ser411Asn)
c.1217G>A (p.Ser406Asn)
c.722G>A (p.Ser241Asn)
c.533G>A (p.Ser178Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.86716609G>CCA377451110LDB3n.515-2118G>C
c.1325G>C (p.Ser442Thr)
c.1373G>C (p.Ser458Thr)
c.1514G>C (p.Ser505Thr)
c.1184G>C (p.Ser395Thr)
c.1529G>C (p.Ser510Thr)
c.1766G>C (p.Ser589Thr)
c.1718G>C (p.Ser573Thr)
c.1577G>C (p.Ser526Thr)
c.1562G>C (p.Ser521Thr)
c.1421G>C (p.Ser474Thr)
c.1232G>C (p.Ser411Thr)
c.1217G>C (p.Ser406Thr)
c.722G>C (p.Ser241Thr)
c.533G>C (p.Ser178Thr)
 dbSNP gnomAD v2 gnomAD v4
10g.86716609G=CA1925631957LDB3n.515-2118G=
c.1325G= (p.Ser442=)
c.1373G= (p.Ser458=)
c.1514G= (p.Ser505=)
c.1184G= (p.Ser395=)
c.1529G= (p.Ser510=)
c.1766G= (p.Ser589=)
c.1718G= (p.Ser573=)
c.1577G= (p.Ser526=)
c.1562G= (p.Ser521=)
c.1421G= (p.Ser474=)
c.1232G= (p.Ser411=)
c.1217G= (p.Ser406=)
c.722G= (p.Ser241=)
c.533G= (p.Ser178=)
10g.86716609G>TCA377451112LDB3n.515-2118G>T
c.1325G>T (p.Ser442Ile)
c.1373G>T (p.Ser458Ile)
c.1514G>T (p.Ser505Ile)
c.1184G>T (p.Ser395Ile)
c.1529G>T (p.Ser510Ile)
c.1766G>T (p.Ser589Ile)
c.1718G>T (p.Ser573Ile)
c.1577G>T (p.Ser526Ile)
c.1562G>T (p.Ser521Ile)
c.1421G>T (p.Ser474Ile)
c.1232G>T (p.Ser411Ile)
c.1217G>T (p.Ser406Ile)
c.722G>T (p.Ser241Ile)
c.533G>T (p.Ser178Ile)
10g.86716610C>ACA377451116LDB3n.515-2117C>A
c.1326C>A (p.Ser442Arg)
c.1374C>A (p.Ser458Arg)
c.1515C>A (p.Ser505Arg)
c.1185C>A (p.Ser395Arg)
c.1530C>A (p.Ser510Arg)
c.1767C>A (p.Ser589Arg)
c.1719C>A (p.Ser573Arg)
c.1578C>A (p.Ser526Arg)
c.1563C>A (p.Ser521Arg)
c.1422C>A (p.Ser474Arg)
c.1233C>A (p.Ser411Arg)
c.1218C>A (p.Ser406Arg)
c.723C>A (p.Ser241Arg)
c.534C>A (p.Ser178Arg)
10g.86716610C=CA1925631959LDB3n.515-2117C=
c.1326C= (p.Ser442=)
c.1374C= (p.Ser458=)
c.1515C= (p.Ser505=)
c.1185C= (p.Ser395=)
c.1530C= (p.Ser510=)
c.1767C= (p.Ser589=)
c.1719C= (p.Ser573=)
c.1578C= (p.Ser526=)
c.1563C= (p.Ser521=)
c.1422C= (p.Ser474=)
c.1233C= (p.Ser411=)
c.1218C= (p.Ser406=)
c.723C= (p.Ser241=)
c.534C= (p.Ser178=)
10g.86716610C>GCA377451114LDB3n.515-2117C>G
c.1326C>G (p.Ser442Arg)
c.1374C>G (p.Ser458Arg)
c.1515C>G (p.Ser505Arg)
c.1185C>G (p.Ser395Arg)
c.1530C>G (p.Ser510Arg)
c.1767C>G (p.Ser589Arg)
c.1719C>G (p.Ser573Arg)
c.1578C>G (p.Ser526Arg)
c.1563C>G (p.Ser521Arg)
c.1422C>G (p.Ser474Arg)
c.1233C>G (p.Ser411Arg)
c.1218C>G (p.Ser406Arg)
c.723C>G (p.Ser241Arg)
c.534C>G (p.Ser178Arg)
10g.86716610C>TCA470375780LDB3n.515-2117C>T
c.1326C>T (p.Ser442=)
c.1374C>T (p.Ser458=)
c.1515C>T (p.Ser505=)
c.1185C>T (p.Ser395=)
c.1530C>T (p.Ser510=)
c.1767C>T (p.Ser589=)
c.1719C>T (p.Ser573=)
c.1578C>T (p.Ser526=)
c.1563C>T (p.Ser521=)
c.1422C>T (p.Ser474=)
c.1233C>T (p.Ser411=)
c.1218C>T (p.Ser406=)
c.723C>T (p.Ser241=)
c.534C>T (p.Ser178=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.86716610_86716611delinsCACA1925631958LDB3n.515-2117_515-2116delinsCA
c.1326_1327delinsCA (p.Ser442=)
c.1374_1375delinsCA (p.Ser458=)
c.1515_1516delinsCA (p.Ser505=)
c.1185_1186delinsCA (p.Ser395=)
c.1530_1531delinsCA (p.Ser510=)
c.1767_1768delinsCA (p.Ser589=)
c.1719_1720delinsCA (p.Ser573=)
c.1578_1579delinsCA (p.Ser526=)
c.1563_1564delinsCA (p.Ser521=)
c.1422_1423delinsCA (p.Ser474=)
c.1233_1234delinsCA (p.Ser411=)
c.1218_1219delinsCA (p.Ser406=)
c.723_724delinsCA (p.Ser241=)
c.534_535delinsCA (p.Ser178=)
10g.86716611delCA5585175LDB3n.515-2116del
c.1327del (p.Thr443ProfsTer?)
c.1375del (p.Thr459ProfsTer?)
c.1516del (p.Thr506ProfsTer?)
c.1186del (p.Thr396ProfsTer?)
c.1531del (p.Thr511ProfsTer?)
c.1768del (p.Thr590ProfsTer?)
c.1720del (p.Thr574ProfsTer?)
c.1579del (p.Thr527ProfsTer?)
c.1564del (p.Thr522ProfsTer?)
c.1423del (p.Thr475ProfsTer?)
c.1234del (p.Thr412ProfsTer?)
c.1219del (p.Thr407ProfsTer?)
c.724del (p.Thr242ProfsTer?)
c.535del (p.Thr179ProfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716611A>CCA377451119LDB3n.515-2116A>C
c.1327A>C (p.Thr443Pro)
c.1375A>C (p.Thr459Pro)
c.1516A>C (p.Thr506Pro)
c.1186A>C (p.Thr396Pro)
c.1531A>C (p.Thr511Pro)
c.1768A>C (p.Thr590Pro)
c.1720A>C (p.Thr574Pro)
c.1579A>C (p.Thr527Pro)
c.1564A>C (p.Thr522Pro)
c.1423A>C (p.Thr475Pro)
c.1234A>C (p.Thr412Pro)
c.1219A>C (p.Thr407Pro)
c.724A>C (p.Thr242Pro)
c.535A>C (p.Thr179Pro)
10g.86716611A>GCA377451121LDB3n.515-2116A>G
c.1327A>G (p.Thr443Ala)
c.1375A>G (p.Thr459Ala)
c.1516A>G (p.Thr506Ala)
c.1186A>G (p.Thr396Ala)
c.1531A>G (p.Thr511Ala)
c.1768A>G (p.Thr590Ala)
c.1720A>G (p.Thr574Ala)
c.1579A>G (p.Thr527Ala)
c.1564A>G (p.Thr522Ala)
c.1423A>G (p.Thr475Ala)
c.1234A>G (p.Thr412Ala)
c.1219A>G (p.Thr407Ala)
c.724A>G (p.Thr242Ala)
c.535A>G (p.Thr179Ala)
10g.86716611A>TCA377451122LDB3n.515-2116A>T
c.1327A>T (p.Thr443Ser)
c.1375A>T (p.Thr459Ser)
c.1516A>T (p.Thr506Ser)
c.1186A>T (p.Thr396Ser)
c.1531A>T (p.Thr511Ser)
c.1768A>T (p.Thr590Ser)
c.1720A>T (p.Thr574Ser)
c.1579A>T (p.Thr527Ser)
c.1564A>T (p.Thr522Ser)
c.1423A>T (p.Thr475Ser)
c.1234A>T (p.Thr412Ser)
c.1219A>T (p.Thr407Ser)
c.724A>T (p.Thr242Ser)
c.535A>T (p.Thr179Ser)
10g.86716612C>ACA377451125LDB3n.515-2115C>A
c.1328C>A (p.Thr443Asn)
c.1376C>A (p.Thr459Asn)
c.1517C>A (p.Thr506Asn)
c.1187C>A (p.Thr396Asn)
c.1532C>A (p.Thr511Asn)
c.1769C>A (p.Thr590Asn)
c.1721C>A (p.Thr574Asn)
c.1580C>A (p.Thr527Asn)
c.1565C>A (p.Thr522Asn)
c.1424C>A (p.Thr475Asn)
c.1235C>A (p.Thr412Asn)
c.1220C>A (p.Thr407Asn)
c.725C>A (p.Thr242Asn)
c.536C>A (p.Thr179Asn)
10g.86716612C>GCA377451127LDB3n.515-2115C>G
c.1328C>G (p.Thr443Ser)
c.1376C>G (p.Thr459Ser)
c.1517C>G (p.Thr506Ser)
c.1187C>G (p.Thr396Ser)
c.1532C>G (p.Thr511Ser)
c.1769C>G (p.Thr590Ser)
c.1721C>G (p.Thr574Ser)
c.1580C>G (p.Thr527Ser)
c.1565C>G (p.Thr522Ser)
c.1424C>G (p.Thr475Ser)
c.1235C>G (p.Thr412Ser)
c.1220C>G (p.Thr407Ser)
c.725C>G (p.Thr242Ser)
c.536C>G (p.Thr179Ser)
10g.86716612C>TCA377451129LDB3n.515-2115C>T
c.1328C>T (p.Thr443Ile)
c.1376C>T (p.Thr459Ile)
c.1517C>T (p.Thr506Ile)
c.1187C>T (p.Thr396Ile)
c.1532C>T (p.Thr511Ile)
c.1769C>T (p.Thr590Ile)
c.1721C>T (p.Thr574Ile)
c.1580C>T (p.Thr527Ile)
c.1565C>T (p.Thr522Ile)
c.1424C>T (p.Thr475Ile)
c.1235C>T (p.Thr412Ile)
c.1220C>T (p.Thr407Ile)
c.725C>T (p.Thr242Ile)
c.536C>T (p.Thr179Ile)
10g.86716613C>ACA470375797LDB3n.515-2114C>A
c.1329C>A (p.Thr443=)
c.1377C>A (p.Thr459=)
c.1518C>A (p.Thr506=)
c.1188C>A (p.Thr396=)
c.1533C>A (p.Thr511=)
c.1770C>A (p.Thr590=)
c.1722C>A (p.Thr574=)
c.1581C>A (p.Thr527=)
c.1566C>A (p.Thr522=)
c.1425C>A (p.Thr475=)
c.1236C>A (p.Thr412=)
c.1221C>A (p.Thr407=)
c.726C>A (p.Thr242=)
c.537C>A (p.Thr179=)
10g.86716613C>GCA470375799LDB3n.515-2114C>G
c.1329C>G (p.Thr443=)
c.1377C>G (p.Thr459=)
c.1518C>G (p.Thr506=)
c.1188C>G (p.Thr396=)
c.1533C>G (p.Thr511=)
c.1770C>G (p.Thr590=)
c.1722C>G (p.Thr574=)
c.1581C>G (p.Thr527=)
c.1566C>G (p.Thr522=)
c.1425C>G (p.Thr475=)
c.1236C>G (p.Thr412=)
c.1221C>G (p.Thr407=)
c.726C>G (p.Thr242=)
c.537C>G (p.Thr179=)
10g.86716613C>TCA470375801LDB3n.515-2114C>T
c.1329C>T (p.Thr443=)
c.1377C>T (p.Thr459=)
c.1518C>T (p.Thr506=)
c.1188C>T (p.Thr396=)
c.1533C>T (p.Thr511=)
c.1770C>T (p.Thr590=)
c.1722C>T (p.Thr574=)
c.1581C>T (p.Thr527=)
c.1566C>T (p.Thr522=)
c.1425C>T (p.Thr475=)
c.1236C>T (p.Thr412=)
c.1221C>T (p.Thr407=)
c.726C>T (p.Thr242=)
c.537C>T (p.Thr179=)
10g.86716614A=CA1925631960LDB3n.515-2113A=
c.1330A= (p.Thr444=)
c.1378A= (p.Thr460=)
c.1519A= (p.Thr507=)
c.1189A= (p.Thr397=)
c.1534A= (p.Thr512=)
c.1771A= (p.Thr591=)
c.1723A= (p.Thr575=)
c.1582A= (p.Thr528=)
c.1567A= (p.Thr523=)
c.1426A= (p.Thr476=)
c.1237A= (p.Thr413=)
c.1222A= (p.Thr408=)
c.727A= (p.Thr243=)
c.538A= (p.Thr180=)
10g.86716614A>CCA377451131LDB3n.515-2113A>C
c.1330A>C (p.Thr444Pro)
c.1378A>C (p.Thr460Pro)
c.1519A>C (p.Thr507Pro)
c.1189A>C (p.Thr397Pro)
c.1534A>C (p.Thr512Pro)
c.1771A>C (p.Thr591Pro)
c.1723A>C (p.Thr575Pro)
c.1582A>C (p.Thr528Pro)
c.1567A>C (p.Thr523Pro)
c.1426A>C (p.Thr476Pro)
c.1237A>C (p.Thr413Pro)
c.1222A>C (p.Thr408Pro)
c.727A>C (p.Thr243Pro)
c.538A>C (p.Thr180Pro)
 dbSNP
10g.86716614A>GCA377451135LDB3n.515-2113A>G
c.1330A>G (p.Thr444Ala)
c.1378A>G (p.Thr460Ala)
c.1519A>G (p.Thr507Ala)
c.1189A>G (p.Thr397Ala)
c.1534A>G (p.Thr512Ala)
c.1771A>G (p.Thr591Ala)
c.1723A>G (p.Thr575Ala)
c.1582A>G (p.Thr528Ala)
c.1567A>G (p.Thr523Ala)
c.1426A>G (p.Thr476Ala)
c.1237A>G (p.Thr413Ala)
c.1222A>G (p.Thr408Ala)
c.727A>G (p.Thr243Ala)
c.538A>G (p.Thr180Ala)
10g.86716614A>TCA377451133LDB3n.515-2113A>T
c.1330A>T (p.Thr444Ser)
c.1378A>T (p.Thr460Ser)
c.1519A>T (p.Thr507Ser)
c.1189A>T (p.Thr397Ser)
c.1534A>T (p.Thr512Ser)
c.1771A>T (p.Thr591Ser)
c.1723A>T (p.Thr575Ser)
c.1582A>T (p.Thr528Ser)
c.1567A>T (p.Thr523Ser)
c.1426A>T (p.Thr476Ser)
c.1237A>T (p.Thr413Ser)
c.1222A>T (p.Thr408Ser)
c.727A>T (p.Thr243Ser)
c.538A>T (p.Thr180Ser)
10g.86716615C>ACA5585176LDB3n.515-2112C>A
c.1331C>A (p.Thr444Asn)
c.1379C>A (p.Thr460Asn)
c.1520C>A (p.Thr507Asn)
c.1190C>A (p.Thr397Asn)
c.1535C>A (p.Thr512Asn)
c.1772C>A (p.Thr591Asn)
c.1724C>A (p.Thr575Asn)
c.1583C>A (p.Thr528Asn)
c.1568C>A (p.Thr523Asn)
c.1427C>A (p.Thr476Asn)
c.1238C>A (p.Thr413Asn)
c.1223C>A (p.Thr408Asn)
c.728C>A (p.Thr243Asn)
c.539C>A (p.Thr180Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716615C=CA1925631961LDB3n.515-2112C=
c.1331C= (p.Thr444=)
c.1379C= (p.Thr460=)
c.1520C= (p.Thr507=)
c.1190C= (p.Thr397=)
c.1535C= (p.Thr512=)
c.1772C= (p.Thr591=)
c.1724C= (p.Thr575=)
c.1583C= (p.Thr528=)
c.1568C= (p.Thr523=)
c.1427C= (p.Thr476=)
c.1238C= (p.Thr413=)
c.1223C= (p.Thr408=)
c.728C= (p.Thr243=)
c.539C= (p.Thr180=)
10g.86716615C>GCA377451138LDB3n.515-2112C>G
c.1331C>G (p.Thr444Ser)
c.1379C>G (p.Thr460Ser)
c.1520C>G (p.Thr507Ser)
c.1190C>G (p.Thr397Ser)
c.1535C>G (p.Thr512Ser)
c.1772C>G (p.Thr591Ser)
c.1724C>G (p.Thr575Ser)
c.1583C>G (p.Thr528Ser)
c.1568C>G (p.Thr523Ser)
c.1427C>G (p.Thr476Ser)
c.1238C>G (p.Thr413Ser)
c.1223C>G (p.Thr408Ser)
c.728C>G (p.Thr243Ser)
c.539C>G (p.Thr180Ser)
10g.86716615C>TCA377451140LDB3n.515-2112C>T
c.1331C>T (p.Thr444Ile)
c.1379C>T (p.Thr460Ile)
c.1520C>T (p.Thr507Ile)
c.1190C>T (p.Thr397Ile)
c.1535C>T (p.Thr512Ile)
c.1772C>T (p.Thr591Ile)
c.1724C>T (p.Thr575Ile)
c.1583C>T (p.Thr528Ile)
c.1568C>T (p.Thr523Ile)
c.1427C>T (p.Thr476Ile)
c.1238C>T (p.Thr413Ile)
c.1223C>T (p.Thr408Ile)
c.728C>T (p.Thr243Ile)
c.539C>T (p.Thr180Ile)
 ClinVar gnomAD v4 COSMIC COSMIC COSMIC
10g.86716616C>ACA470375815LDB3n.515-2111C>A
c.1332C>A (p.Thr444=)
c.1380C>A (p.Thr460=)
c.1521C>A (p.Thr507=)
c.1191C>A (p.Thr397=)
c.1536C>A (p.Thr512=)
c.1773C>A (p.Thr591=)
c.1725C>A (p.Thr575=)
c.1584C>A (p.Thr528=)
c.1569C>A (p.Thr523=)
c.1428C>A (p.Thr476=)
c.1239C>A (p.Thr413=)
c.1224C>A (p.Thr408=)
c.729C>A (p.Thr243=)
c.540C>A (p.Thr180=)
10g.86716616C=CA1925631962LDB3n.515-2111C=
c.1332C= (p.Thr444=)
c.1380C= (p.Thr460=)
c.1521C= (p.Thr507=)
c.1191C= (p.Thr397=)
c.1536C= (p.Thr512=)
c.1773C= (p.Thr591=)
c.1725C= (p.Thr575=)
c.1584C= (p.Thr528=)
c.1569C= (p.Thr523=)
c.1428C= (p.Thr476=)
c.1239C= (p.Thr413=)
c.1224C= (p.Thr408=)
c.729C= (p.Thr243=)
c.540C= (p.Thr180=)
10g.86716616C>GCA470375816LDB3n.515-2111C>G
c.1332C>G (p.Thr444=)
c.1380C>G (p.Thr460=)
c.1521C>G (p.Thr507=)
c.1191C>G (p.Thr397=)
c.1536C>G (p.Thr512=)
c.1773C>G (p.Thr591=)
c.1725C>G (p.Thr575=)
c.1584C>G (p.Thr528=)
c.1569C>G (p.Thr523=)
c.1428C>G (p.Thr476=)
c.1239C>G (p.Thr413=)
c.1224C>G (p.Thr408=)
c.729C>G (p.Thr243=)
c.540C>G (p.Thr180=)
10g.86716616C>TCA5585177LDB3n.515-2111C>T
c.1332C>T (p.Thr444=)
c.1380C>T (p.Thr460=)
c.1521C>T (p.Thr507=)
c.1191C>T (p.Thr397=)
c.1536C>T (p.Thr512=)
c.1773C>T (p.Thr591=)
c.1725C>T (p.Thr575=)
c.1584C>T (p.Thr528=)
c.1569C>T (p.Thr523=)
c.1428C>T (p.Thr476=)
c.1239C>T (p.Thr413=)
c.1224C>T (p.Thr408=)
c.729C>T (p.Thr243=)
c.540C>T (p.Thr180=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716617T>ACA377451147LDB3n.515-2110T>A
c.1333T>A (p.Ser445Thr)
c.1381T>A (p.Ser461Thr)
c.1522T>A (p.Ser508Thr)
c.1192T>A (p.Ser398Thr)
c.1537T>A (p.Ser513Thr)
c.1774T>A (p.Ser592Thr)
c.1726T>A (p.Ser576Thr)
c.1585T>A (p.Ser529Thr)
c.1570T>A (p.Ser524Thr)
c.1429T>A (p.Ser477Thr)
c.1240T>A (p.Ser414Thr)
c.1225T>A (p.Ser409Thr)
c.730T>A (p.Ser244Thr)
c.541T>A (p.Ser181Thr)
10g.86716617T>CCA377451144LDB3n.515-2110T>C
c.1333T>C (p.Ser445Pro)
c.1381T>C (p.Ser461Pro)
c.1522T>C (p.Ser508Pro)
c.1192T>C (p.Ser398Pro)
c.1537T>C (p.Ser513Pro)
c.1774T>C (p.Ser592Pro)
c.1726T>C (p.Ser576Pro)
c.1585T>C (p.Ser529Pro)
c.1570T>C (p.Ser524Pro)
c.1429T>C (p.Ser477Pro)
c.1240T>C (p.Ser414Pro)
c.1225T>C (p.Ser409Pro)
c.730T>C (p.Ser244Pro)
c.541T>C (p.Ser181Pro)
10g.86716617T>GCA377451145LDB3n.515-2110T>G
c.1333T>G (p.Ser445Ala)
c.1381T>G (p.Ser461Ala)
c.1522T>G (p.Ser508Ala)
c.1192T>G (p.Ser398Ala)
c.1537T>G (p.Ser513Ala)
c.1774T>G (p.Ser592Ala)
c.1726T>G (p.Ser576Ala)
c.1585T>G (p.Ser529Ala)
c.1570T>G (p.Ser524Ala)
c.1429T>G (p.Ser477Ala)
c.1240T>G (p.Ser414Ala)
c.1225T>G (p.Ser409Ala)
c.730T>G (p.Ser244Ala)
c.541T>G (p.Ser181Ala)
10g.86716618C>ACA377451148LDB3n.515-2109C>A
c.1334C>A (p.Ser445Tyr)
c.1382C>A (p.Ser461Tyr)
c.1523C>A (p.Ser508Tyr)
c.1193C>A (p.Ser398Tyr)
c.1538C>A (p.Ser513Tyr)
c.1775C>A (p.Ser592Tyr)
c.1727C>A (p.Ser576Tyr)
c.1586C>A (p.Ser529Tyr)
c.1571C>A (p.Ser524Tyr)
c.1430C>A (p.Ser477Tyr)
c.1241C>A (p.Ser414Tyr)
c.1226C>A (p.Ser409Tyr)
c.731C>A (p.Ser244Tyr)
c.542C>A (p.Ser181Tyr)
10g.86716618C>GCA377451149LDB3n.515-2109C>G
c.1334C>G (p.Ser445Cys)
c.1382C>G (p.Ser461Cys)
c.1523C>G (p.Ser508Cys)
c.1193C>G (p.Ser398Cys)
c.1538C>G (p.Ser513Cys)
c.1775C>G (p.Ser592Cys)
c.1727C>G (p.Ser576Cys)
c.1586C>G (p.Ser529Cys)
c.1571C>G (p.Ser524Cys)
c.1430C>G (p.Ser477Cys)
c.1241C>G (p.Ser414Cys)
c.1226C>G (p.Ser409Cys)
c.731C>G (p.Ser244Cys)
c.542C>G (p.Ser181Cys)
10g.86716618C>TCA377451154LDB3n.515-2109C>T
c.1334C>T (p.Ser445Phe)
c.1382C>T (p.Ser461Phe)
c.1523C>T (p.Ser508Phe)
c.1193C>T (p.Ser398Phe)
c.1538C>T (p.Ser513Phe)
c.1775C>T (p.Ser592Phe)
c.1727C>T (p.Ser576Phe)
c.1586C>T (p.Ser529Phe)
c.1571C>T (p.Ser524Phe)
c.1430C>T (p.Ser477Phe)
c.1241C>T (p.Ser414Phe)
c.1226C>T (p.Ser409Phe)
c.731C>T (p.Ser244Phe)
c.542C>T (p.Ser181Phe)
10g.86716619C>ACA470375833LDB3n.515-2108C>A
c.1335C>A (p.Ser445=)
c.1383C>A (p.Ser461=)
c.1524C>A (p.Ser508=)
c.1194C>A (p.Ser398=)
c.1539C>A (p.Ser513=)
c.1776C>A (p.Ser592=)
c.1728C>A (p.Ser576=)
c.1587C>A (p.Ser529=)
c.1572C>A (p.Ser524=)
c.1431C>A (p.Ser477=)
c.1242C>A (p.Ser414=)
c.1227C>A (p.Ser409=)
c.732C>A (p.Ser244=)
c.543C>A (p.Ser181=)
10g.86716619C>GCA470375835LDB3n.515-2108C>G
c.1335C>G (p.Ser445=)
c.1383C>G (p.Ser461=)
c.1524C>G (p.Ser508=)
c.1194C>G (p.Ser398=)
c.1539C>G (p.Ser513=)
c.1776C>G (p.Ser592=)
c.1728C>G (p.Ser576=)
c.1587C>G (p.Ser529=)
c.1572C>G (p.Ser524=)
c.1431C>G (p.Ser477=)
c.1242C>G (p.Ser414=)
c.1227C>G (p.Ser409=)
c.732C>G (p.Ser244=)
c.543C>G (p.Ser181=)
10g.86716619C>TCA470375838LDB3n.515-2108C>T
c.1335C>T (p.Ser445=)
c.1383C>T (p.Ser461=)
c.1524C>T (p.Ser508=)
c.1194C>T (p.Ser398=)
c.1539C>T (p.Ser513=)
c.1776C>T (p.Ser592=)
c.1728C>T (p.Ser576=)
c.1587C>T (p.Ser529=)
c.1572C>T (p.Ser524=)
c.1431C>T (p.Ser477=)
c.1242C>T (p.Ser414=)
c.1227C>T (p.Ser409=)
c.732C>T (p.Ser244=)
c.543C>T (p.Ser181=)
 gnomAD v4
10g.86716620A>CCA377451157LDB3n.515-2107A>C
c.1336A>C (p.Ile446Leu)
c.1384A>C (p.Ile462Leu)
c.1525A>C (p.Ile509Leu)
c.1195A>C (p.Ile399Leu)
c.1540A>C (p.Ile514Leu)
c.1777A>C (p.Ile593Leu)
c.1729A>C (p.Ile577Leu)
c.1588A>C (p.Ile530Leu)
c.1573A>C (p.Ile525Leu)
c.1432A>C (p.Ile478Leu)
c.1243A>C (p.Ile415Leu)
c.1228A>C (p.Ile410Leu)
c.733A>C (p.Ile245Leu)
c.544A>C (p.Ile182Leu)
10g.86716620A>GCA377451159LDB3n.515-2107A>G
c.1336A>G (p.Ile446Val)
c.1384A>G (p.Ile462Val)
c.1525A>G (p.Ile509Val)
c.1195A>G (p.Ile399Val)
c.1540A>G (p.Ile514Val)
c.1777A>G (p.Ile593Val)
c.1729A>G (p.Ile577Val)
c.1588A>G (p.Ile530Val)
c.1573A>G (p.Ile525Val)
c.1432A>G (p.Ile478Val)
c.1243A>G (p.Ile415Val)
c.1228A>G (p.Ile410Val)
c.733A>G (p.Ile245Val)
c.544A>G (p.Ile182Val)
 gnomAD v4
10g.86716620A>TCA377451161LDB3n.515-2107A>T
c.1336A>T (p.Ile446Phe)
c.1384A>T (p.Ile462Phe)
c.1525A>T (p.Ile509Phe)
c.1195A>T (p.Ile399Phe)
c.1540A>T (p.Ile514Phe)
c.1777A>T (p.Ile593Phe)
c.1729A>T (p.Ile577Phe)
c.1588A>T (p.Ile530Phe)
c.1573A>T (p.Ile525Phe)
c.1432A>T (p.Ile478Phe)
c.1243A>T (p.Ile415Phe)
c.1228A>T (p.Ile410Phe)
c.733A>T (p.Ile245Phe)
c.544A>T (p.Ile182Phe)
10g.86716621T>ACA377451162LDB3n.515-2106T>A
c.1337T>A (p.Ile446Asn)
c.1385T>A (p.Ile462Asn)
c.1526T>A (p.Ile509Asn)
c.1196T>A (p.Ile399Asn)
c.1541T>A (p.Ile514Asn)
c.1778T>A (p.Ile593Asn)
c.1730T>A (p.Ile577Asn)
c.1589T>A (p.Ile530Asn)
c.1574T>A (p.Ile525Asn)
c.1433T>A (p.Ile478Asn)
c.1244T>A (p.Ile415Asn)
c.1229T>A (p.Ile410Asn)
c.734T>A (p.Ile245Asn)
c.545T>A (p.Ile182Asn)
10g.86716621T>CCA377451164LDB3n.515-2106T>C
c.1337T>C (p.Ile446Thr)
c.1385T>C (p.Ile462Thr)
c.1526T>C (p.Ile509Thr)
c.1196T>C (p.Ile399Thr)
c.1541T>C (p.Ile514Thr)
c.1778T>C (p.Ile593Thr)
c.1730T>C (p.Ile577Thr)
c.1589T>C (p.Ile530Thr)
c.1574T>C (p.Ile525Thr)
c.1433T>C (p.Ile478Thr)
c.1244T>C (p.Ile415Thr)
c.1229T>C (p.Ile410Thr)
c.734T>C (p.Ile245Thr)
c.545T>C (p.Ile182Thr)
10g.86716621T>GCA377451166LDB3n.515-2106T>G
c.1337T>G (p.Ile446Ser)
c.1385T>G (p.Ile462Ser)
c.1526T>G (p.Ile509Ser)
c.1196T>G (p.Ile399Ser)
c.1541T>G (p.Ile514Ser)
c.1778T>G (p.Ile593Ser)
c.1730T>G (p.Ile577Ser)
c.1589T>G (p.Ile530Ser)
c.1574T>G (p.Ile525Ser)
c.1433T>G (p.Ile478Ser)
c.1244T>G (p.Ile415Ser)
c.1229T>G (p.Ile410Ser)
c.734T>G (p.Ile245Ser)
c.545T>G (p.Ile182Ser)
10g.86716622C>ACA470375852LDB3n.515-2105C>A
c.1338C>A (p.Ile446=)
c.1386C>A (p.Ile462=)
c.1527C>A (p.Ile509=)
c.1197C>A (p.Ile399=)
c.1542C>A (p.Ile514=)
c.1779C>A (p.Ile593=)
c.1731C>A (p.Ile577=)
c.1590C>A (p.Ile530=)
c.1575C>A (p.Ile525=)
c.1434C>A (p.Ile478=)
c.1245C>A (p.Ile415=)
c.1230C>A (p.Ile410=)
c.735C>A (p.Ile245=)
c.546C>A (p.Ile182=)
10g.86716622C>GCA377451168LDB3n.515-2105C>G
c.1338C>G (p.Ile446Met)
c.1386C>G (p.Ile462Met)
c.1527C>G (p.Ile509Met)
c.1197C>G (p.Ile399Met)
c.1542C>G (p.Ile514Met)
c.1779C>G (p.Ile593Met)
c.1731C>G (p.Ile577Met)
c.1590C>G (p.Ile530Met)
c.1575C>G (p.Ile525Met)
c.1434C>G (p.Ile478Met)
c.1245C>G (p.Ile415Met)
c.1230C>G (p.Ile410Met)
c.735C>G (p.Ile245Met)
c.546C>G (p.Ile182Met)
10g.86716622C>TCA470375856LDB3n.515-2105C>T
c.1338C>T (p.Ile446=)
c.1386C>T (p.Ile462=)
c.1527C>T (p.Ile509=)
c.1197C>T (p.Ile399=)
c.1542C>T (p.Ile514=)
c.1779C>T (p.Ile593=)
c.1731C>T (p.Ile577=)
c.1590C>T (p.Ile530=)
c.1575C>T (p.Ile525=)
c.1434C>T (p.Ile478=)
c.1245C>T (p.Ile415=)
c.1230C>T (p.Ile410=)
c.735C>T (p.Ile245=)
c.546C>T (p.Ile182=)
10g.86716623delCA2609997615LDB3n.515-2104del
c.1339del (p.Ser447AlafsTer?)
c.1387del (p.Ser463AlafsTer?)
c.1528del (p.Ser510AlafsTer?)
c.1198del (p.Ser400AlafsTer?)
c.1543del (p.Ser515AlafsTer?)
c.1780del (p.Ser594AlafsTer?)
c.1732del (p.Ser578AlafsTer?)
c.1591del (p.Ser531AlafsTer?)
c.1576del (p.Ser526AlafsTer?)
c.1435del (p.Ser479AlafsTer?)
c.1246del (p.Ser416AlafsTer?)
c.1231del (p.Ser411AlafsTer?)
c.736del (p.Ser246AlafsTer?)
c.547del (p.Ser183AlafsTer?)
 gnomAD v4
10g.86716623A>CCA377451171LDB3n.515-2104A>C
c.1339A>C (p.Ser447Arg)
c.1387A>C (p.Ser463Arg)
c.1528A>C (p.Ser510Arg)
c.1198A>C (p.Ser400Arg)
c.1543A>C (p.Ser515Arg)
c.1780A>C (p.Ser594Arg)
c.1732A>C (p.Ser578Arg)
c.1591A>C (p.Ser531Arg)
c.1576A>C (p.Ser526Arg)
c.1435A>C (p.Ser479Arg)
c.1246A>C (p.Ser416Arg)
c.1231A>C (p.Ser411Arg)
c.736A>C (p.Ser246Arg)
c.547A>C (p.Ser183Arg)
10g.86716623A>GCA377451172LDB3n.515-2104A>G
c.1339A>G (p.Ser447Gly)
c.1387A>G (p.Ser463Gly)
c.1528A>G (p.Ser510Gly)
c.1198A>G (p.Ser400Gly)
c.1543A>G (p.Ser515Gly)
c.1780A>G (p.Ser594Gly)
c.1732A>G (p.Ser578Gly)
c.1591A>G (p.Ser531Gly)
c.1576A>G (p.Ser526Gly)
c.1435A>G (p.Ser479Gly)
c.1246A>G (p.Ser416Gly)
c.1231A>G (p.Ser411Gly)
c.736A>G (p.Ser246Gly)
c.547A>G (p.Ser183Gly)
10g.86716623A>TCA377451174LDB3n.515-2104A>T
c.1339A>T (p.Ser447Cys)
c.1387A>T (p.Ser463Cys)
c.1528A>T (p.Ser510Cys)
c.1198A>T (p.Ser400Cys)
c.1543A>T (p.Ser515Cys)
c.1780A>T (p.Ser594Cys)
c.1732A>T (p.Ser578Cys)
c.1591A>T (p.Ser531Cys)
c.1576A>T (p.Ser526Cys)
c.1435A>T (p.Ser479Cys)
c.1246A>T (p.Ser416Cys)
c.1231A>T (p.Ser411Cys)
c.736A>T (p.Ser246Cys)
c.547A>T (p.Ser183Cys)
10g.86716624G>ACA5585178LDB3n.515-2103G>A
c.1340G>A (p.Ser447Asn)
c.1388G>A (p.Ser463Asn)
c.1529G>A (p.Ser510Asn)
c.1199G>A (p.Ser400Asn)
c.1544G>A (p.Ser515Asn)
c.1781G>A (p.Ser594Asn)
c.1733G>A (p.Ser578Asn)
c.1592G>A (p.Ser531Asn)
c.1577G>A (p.Ser526Asn)
c.1436G>A (p.Ser479Asn)
c.1247G>A (p.Ser416Asn)
c.1232G>A (p.Ser411Asn)
c.737G>A (p.Ser246Asn)
c.548G>A (p.Ser183Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716624G>CCA377451179LDB3n.515-2103G>C
c.1340G>C (p.Ser447Thr)
c.1388G>C (p.Ser463Thr)
c.1529G>C (p.Ser510Thr)
c.1199G>C (p.Ser400Thr)
c.1544G>C (p.Ser515Thr)
c.1781G>C (p.Ser594Thr)
c.1733G>C (p.Ser578Thr)
c.1592G>C (p.Ser531Thr)
c.1577G>C (p.Ser526Thr)
c.1436G>C (p.Ser479Thr)
c.1247G>C (p.Ser416Thr)
c.1232G>C (p.Ser411Thr)
c.737G>C (p.Ser246Thr)
c.548G>C (p.Ser183Thr)
10g.86716624G=CA1925631963LDB3n.515-2103G=
c.1340G= (p.Ser447=)
c.1388G= (p.Ser463=)
c.1529G= (p.Ser510=)
c.1199G= (p.Ser400=)
c.1544G= (p.Ser515=)
c.1781G= (p.Ser594=)
c.1733G= (p.Ser578=)
c.1592G= (p.Ser531=)
c.1577G= (p.Ser526=)
c.1436G= (p.Ser479=)
c.1247G= (p.Ser416=)
c.1232G= (p.Ser411=)
c.737G= (p.Ser246=)
c.548G= (p.Ser183=)
10g.86716624G>TCA377451177LDB3n.515-2103G>T
c.1340G>T (p.Ser447Ile)
c.1388G>T (p.Ser463Ile)
c.1529G>T (p.Ser510Ile)
c.1199G>T (p.Ser400Ile)
c.1544G>T (p.Ser515Ile)
c.1781G>T (p.Ser594Ile)
c.1733G>T (p.Ser578Ile)
c.1592G>T (p.Ser531Ile)
c.1577G>T (p.Ser526Ile)
c.1436G>T (p.Ser479Ile)
c.1247G>T (p.Ser416Ile)
c.1232G>T (p.Ser411Ile)
c.737G>T (p.Ser246Ile)
c.548G>T (p.Ser183Ile)
10g.86716625C>ACA377451182LDB3n.515-2102C>A
c.1341C>A (p.Ser447Arg)
c.1389C>A (p.Ser463Arg)
c.1530C>A (p.Ser510Arg)
c.1200C>A (p.Ser400Arg)
c.1545C>A (p.Ser515Arg)
c.1782C>A (p.Ser594Arg)
c.1734C>A (p.Ser578Arg)
c.1593C>A (p.Ser531Arg)
c.1578C>A (p.Ser526Arg)
c.1437C>A (p.Ser479Arg)
c.1248C>A (p.Ser416Arg)
c.1233C>A (p.Ser411Arg)
c.738C>A (p.Ser246Arg)
c.549C>A (p.Ser183Arg)
10g.86716625C>GCA377451184LDB3n.515-2102C>G
c.1341C>G (p.Ser447Arg)
c.1389C>G (p.Ser463Arg)
c.1530C>G (p.Ser510Arg)
c.1200C>G (p.Ser400Arg)
c.1545C>G (p.Ser515Arg)
c.1782C>G (p.Ser594Arg)
c.1734C>G (p.Ser578Arg)
c.1593C>G (p.Ser531Arg)
c.1578C>G (p.Ser526Arg)
c.1437C>G (p.Ser479Arg)
c.1248C>G (p.Ser416Arg)
c.1233C>G (p.Ser411Arg)
c.738C>G (p.Ser246Arg)
c.549C>G (p.Ser183Arg)
10g.86716625C>TCA470375874LDB3n.515-2102C>T
c.1341C>T (p.Ser447=)
c.1389C>T (p.Ser463=)
c.1530C>T (p.Ser510=)
c.1200C>T (p.Ser400=)
c.1545C>T (p.Ser515=)
c.1782C>T (p.Ser594=)
c.1734C>T (p.Ser578=)
c.1593C>T (p.Ser531=)
c.1578C>T (p.Ser526=)
c.1437C>T (p.Ser479=)
c.1248C>T (p.Ser416=)
c.1233C>T (p.Ser411=)
c.738C>T (p.Ser246=)
c.549C>T (p.Ser183=)
10g.86716626A>CCA377451187LDB3n.515-2101A>C
c.1342A>C (p.Lys448Gln)
c.1390A>C (p.Lys464Gln)
c.1531A>C (p.Lys511Gln)
c.1201A>C (p.Lys401Gln)
c.1546A>C (p.Lys516Gln)
c.1783A>C (p.Lys595Gln)
c.1735A>C (p.Lys579Gln)
c.1594A>C (p.Lys532Gln)
c.1579A>C (p.Lys527Gln)
c.1438A>C (p.Lys480Gln)
c.1249A>C (p.Lys417Gln)
c.1234A>C (p.Lys412Gln)
c.739A>C (p.Lys247Gln)
c.550A>C (p.Lys184Gln)
10g.86716626A>GCA377451188LDB3n.515-2101A>G
c.1342A>G (p.Lys448Glu)
c.1390A>G (p.Lys464Glu)
c.1531A>G (p.Lys511Glu)
c.1201A>G (p.Lys401Glu)
c.1546A>G (p.Lys516Glu)
c.1783A>G (p.Lys595Glu)
c.1735A>G (p.Lys579Glu)
c.1594A>G (p.Lys532Glu)
c.1579A>G (p.Lys527Glu)
c.1438A>G (p.Lys480Glu)
c.1249A>G (p.Lys417Glu)
c.1234A>G (p.Lys412Glu)
c.739A>G (p.Lys247Glu)
c.550A>G (p.Lys184Glu)
10g.86716626A>TCA377451190LDB3n.515-2101A>T
c.1342A>T (p.Lys448Ter)
c.1390A>T (p.Lys464Ter)
c.1531A>T (p.Lys511Ter)
c.1201A>T (p.Lys401Ter)
c.1546A>T (p.Lys516Ter)
c.1783A>T (p.Lys595Ter)
c.1735A>T (p.Lys579Ter)
c.1594A>T (p.Lys532Ter)
c.1579A>T (p.Lys527Ter)
c.1438A>T (p.Lys480Ter)
c.1249A>T (p.Lys417Ter)
c.1234A>T (p.Lys412Ter)
c.739A>T (p.Lys247Ter)
c.550A>T (p.Lys184Ter)
10g.86716627A>CCA377451192LDB3n.515-2100A>C
c.1343A>C (p.Lys448Thr)
c.1391A>C (p.Lys464Thr)
c.1532A>C (p.Lys511Thr)
c.1202A>C (p.Lys401Thr)
c.1547A>C (p.Lys516Thr)
c.1784A>C (p.Lys595Thr)
c.1736A>C (p.Lys579Thr)
c.1595A>C (p.Lys532Thr)
c.1580A>C (p.Lys527Thr)
c.1439A>C (p.Lys480Thr)
c.1250A>C (p.Lys417Thr)
c.1235A>C (p.Lys412Thr)
c.740A>C (p.Lys247Thr)
c.551A>C (p.Lys184Thr)
10g.86716627A>GCA377451194LDB3n.515-2100A>G
c.1343A>G (p.Lys448Arg)
c.1391A>G (p.Lys464Arg)
c.1532A>G (p.Lys511Arg)
c.1202A>G (p.Lys401Arg)
c.1547A>G (p.Lys516Arg)
c.1784A>G (p.Lys595Arg)
c.1736A>G (p.Lys579Arg)
c.1595A>G (p.Lys532Arg)
c.1580A>G (p.Lys527Arg)
c.1439A>G (p.Lys480Arg)
c.1250A>G (p.Lys417Arg)
c.1235A>G (p.Lys412Arg)
c.740A>G (p.Lys247Arg)
c.551A>G (p.Lys184Arg)
10g.86716627A>TCA377451197LDB3n.515-2100A>T
c.1343A>T (p.Lys448Met)
c.1391A>T (p.Lys464Met)
c.1532A>T (p.Lys511Met)
c.1202A>T (p.Lys401Met)
c.1547A>T (p.Lys516Met)
c.1784A>T (p.Lys595Met)
c.1736A>T (p.Lys579Met)
c.1595A>T (p.Lys532Met)
c.1580A>T (p.Lys527Met)
c.1439A>T (p.Lys480Met)
c.1250A>T (p.Lys417Met)
c.1235A>T (p.Lys412Met)
c.740A>T (p.Lys247Met)
c.551A>T (p.Lys184Met)
10g.86716628G>ACA470375888LDB3n.515-2099G>A
c.1344G>A (p.Lys448=)
c.1392G>A (p.Lys464=)
c.1533G>A (p.Lys511=)
c.1203G>A (p.Lys401=)
c.1548G>A (p.Lys516=)
c.1785G>A (p.Lys595=)
c.1737G>A (p.Lys579=)
c.1596G>A (p.Lys532=)
c.1581G>A (p.Lys527=)
c.1440G>A (p.Lys480=)
c.1251G>A (p.Lys417=)
c.1236G>A (p.Lys412=)
c.741G>A (p.Lys247=)
c.552G>A (p.Lys184=)
10g.86716628G>CCA377451198LDB3n.515-2099G>C
c.1344G>C (p.Lys448Asn)
c.1392G>C (p.Lys464Asn)
c.1533G>C (p.Lys511Asn)
c.1203G>C (p.Lys401Asn)
c.1548G>C (p.Lys516Asn)
c.1785G>C (p.Lys595Asn)
c.1737G>C (p.Lys579Asn)
c.1596G>C (p.Lys532Asn)
c.1581G>C (p.Lys527Asn)
c.1440G>C (p.Lys480Asn)
c.1251G>C (p.Lys417Asn)
c.1236G>C (p.Lys412Asn)
c.741G>C (p.Lys247Asn)
c.552G>C (p.Lys184Asn)
10g.86716628G>TCA377451199LDB3n.515-2099G>T
c.1344G>T (p.Lys448Asn)
c.1392G>T (p.Lys464Asn)
c.1533G>T (p.Lys511Asn)
c.1203G>T (p.Lys401Asn)
c.1548G>T (p.Lys516Asn)
c.1785G>T (p.Lys595Asn)
c.1737G>T (p.Lys579Asn)
c.1596G>T (p.Lys532Asn)
c.1581G>T (p.Lys527Asn)
c.1440G>T (p.Lys480Asn)
c.1251G>T (p.Lys417Asn)
c.1236G>T (p.Lys412Asn)
c.741G>T (p.Lys247Asn)
c.552G>T (p.Lys184Asn)
10g.86716629C>ACA377451200LDB3n.515-2098C>A
c.1345C>A (p.Gln449Lys)
c.1393C>A (p.Gln465Lys)
c.1534C>A (p.Gln512Lys)
c.1204C>A (p.Gln402Lys)
c.1549C>A (p.Gln517Lys)
c.1786C>A (p.Gln596Lys)
c.1738C>A (p.Gln580Lys)
c.1597C>A (p.Gln533Lys)
c.1582C>A (p.Gln528Lys)
c.1441C>A (p.Gln481Lys)
c.1252C>A (p.Gln418Lys)
c.1237C>A (p.Gln413Lys)
c.742C>A (p.Gln248Lys)
c.553C>A (p.Gln185Lys)
10g.86716629C>GCA377451201LDB3n.515-2098C>G
c.1345C>G (p.Gln449Glu)
c.1393C>G (p.Gln465Glu)
c.1534C>G (p.Gln512Glu)
c.1204C>G (p.Gln402Glu)
c.1549C>G (p.Gln517Glu)
c.1786C>G (p.Gln596Glu)
c.1738C>G (p.Gln580Glu)
c.1597C>G (p.Gln533Glu)
c.1582C>G (p.Gln528Glu)
c.1441C>G (p.Gln481Glu)
c.1252C>G (p.Gln418Glu)
c.1237C>G (p.Gln413Glu)
c.742C>G (p.Gln248Glu)
c.553C>G (p.Gln185Glu)
10g.86716629C>TCA377451203LDB3n.515-2098C>T
c.1345C>T (p.Gln449Ter)
c.1393C>T (p.Gln465Ter)
c.1534C>T (p.Gln512Ter)
c.1204C>T (p.Gln402Ter)
c.1549C>T (p.Gln517Ter)
c.1786C>T (p.Gln596Ter)
c.1738C>T (p.Gln580Ter)
c.1597C>T (p.Gln533Ter)
c.1582C>T (p.Gln528Ter)
c.1441C>T (p.Gln481Ter)
c.1252C>T (p.Gln418Ter)
c.1237C>T (p.Gln413Ter)
c.742C>T (p.Gln248Ter)
c.553C>T (p.Gln185Ter)
 gnomAD v4
10g.86716630A=CA1925631964LDB3n.515-2097A=
c.1346A= (p.Gln449=)
c.1394A= (p.Gln465=)
c.1535A= (p.Gln512=)
c.1205A= (p.Gln402=)
c.1550A= (p.Gln517=)
c.1787A= (p.Gln596=)
c.1739A= (p.Gln580=)
c.1598A= (p.Gln533=)
c.1583A= (p.Gln528=)
c.1442A= (p.Gln481=)
c.1253A= (p.Gln418=)
c.1238A= (p.Gln413=)
c.743A= (p.Gln248=)
c.554A= (p.Gln185=)
10g.86716630A>CCA136539LDB3n.515-2097A>C
c.1346A>C (p.Gln449Pro)
c.1394A>C (p.Gln465Pro)
c.1535A>C (p.Gln512Pro)
c.1205A>C (p.Gln402Pro)
c.1550A>C (p.Gln517Pro)
c.1787A>C (p.Gln596Pro)
c.1739A>C (p.Gln580Pro)
c.1598A>C (p.Gln533Pro)
c.1583A>C (p.Gln528Pro)
c.1442A>C (p.Gln481Pro)
c.1253A>C (p.Gln418Pro)
c.1238A>C (p.Gln413Pro)
c.743A>C (p.Gln248Pro)
c.554A>C (p.Gln185Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716630A>GCA211205527LDB3n.515-2097A>G
c.1346A>G (p.Gln449Arg)
c.1394A>G (p.Gln465Arg)
c.1535A>G (p.Gln512Arg)
c.1205A>G (p.Gln402Arg)
c.1550A>G (p.Gln517Arg)
c.1787A>G (p.Gln596Arg)
c.1739A>G (p.Gln580Arg)
c.1598A>G (p.Gln533Arg)
c.1583A>G (p.Gln528Arg)
c.1442A>G (p.Gln481Arg)
c.1253A>G (p.Gln418Arg)
c.1238A>G (p.Gln413Arg)
c.743A>G (p.Gln248Arg)
c.554A>G (p.Gln185Arg)
 ClinVar dbSNP gnomAD v4
10g.86716630A>TCA377451208LDB3n.515-2097A>T
c.1346A>T (p.Gln449Leu)
c.1394A>T (p.Gln465Leu)
c.1535A>T (p.Gln512Leu)
c.1205A>T (p.Gln402Leu)
c.1550A>T (p.Gln517Leu)
c.1787A>T (p.Gln596Leu)
c.1739A>T (p.Gln580Leu)
c.1598A>T (p.Gln533Leu)
c.1583A>T (p.Gln528Leu)
c.1442A>T (p.Gln481Leu)
c.1253A>T (p.Gln418Leu)
c.1238A>T (p.Gln413Leu)
c.743A>T (p.Gln248Leu)
c.554A>T (p.Gln185Leu)
10g.86716631G>ACA470375907LDB3n.515-2096G>A
c.1347G>A (p.Gln449=)
c.1395G>A (p.Gln465=)
c.1536G>A (p.Gln512=)
c.1206G>A (p.Gln402=)
c.1551G>A (p.Gln517=)
c.1788G>A (p.Gln596=)
c.1740G>A (p.Gln580=)
c.1599G>A (p.Gln533=)
c.1584G>A (p.Gln528=)
c.1443G>A (p.Gln481=)
c.1254G>A (p.Gln418=)
c.1239G>A (p.Gln413=)
c.744G>A (p.Gln248=)
c.555G>A (p.Gln185=)
10g.86716631G>CCA377451210LDB3n.515-2096G>C
c.1347G>C (p.Gln449His)
c.1395G>C (p.Gln465His)
c.1536G>C (p.Gln512His)
c.1206G>C (p.Gln402His)
c.1551G>C (p.Gln517His)
c.1788G>C (p.Gln596His)
c.1740G>C (p.Gln580His)
c.1599G>C (p.Gln533His)
c.1584G>C (p.Gln528His)
c.1443G>C (p.Gln481His)
c.1254G>C (p.Gln418His)
c.1239G>C (p.Gln413His)
c.744G>C (p.Gln248His)
c.555G>C (p.Gln185His)
10g.86716631G>TCA377451211LDB3n.515-2096G>T
c.1347G>T (p.Gln449His)
c.1395G>T (p.Gln465His)
c.1536G>T (p.Gln512His)
c.1206G>T (p.Gln402His)
c.1551G>T (p.Gln517His)
c.1788G>T (p.Gln596His)
c.1740G>T (p.Gln580His)
c.1599G>T (p.Gln533His)
c.1584G>T (p.Gln528His)
c.1443G>T (p.Gln481His)
c.1254G>T (p.Gln418His)
c.1239G>T (p.Gln413His)
c.744G>T (p.Gln248His)
c.555G>T (p.Gln185His)
10g.86716632A=CA1925631965LDB3n.515-2095A=
c.1348A= (p.Thr450=)
c.1396A= (p.Thr466=)
c.1537A= (p.Thr513=)
c.1207A= (p.Thr403=)
c.1552A= (p.Thr518=)
c.1789A= (p.Thr597=)
c.1741A= (p.Thr581=)
c.1600A= (p.Thr534=)
c.1585A= (p.Thr529=)
c.1444A= (p.Thr482=)
c.1255A= (p.Thr419=)
c.1240A= (p.Thr414=)
c.745A= (p.Thr249=)
c.556A= (p.Thr186=)
10g.86716632A>CCA377451212LDB3n.515-2095A>C
c.1348A>C (p.Thr450Pro)
c.1396A>C (p.Thr466Pro)
c.1537A>C (p.Thr513Pro)
c.1207A>C (p.Thr403Pro)
c.1552A>C (p.Thr518Pro)
c.1789A>C (p.Thr597Pro)
c.1741A>C (p.Thr581Pro)
c.1600A>C (p.Thr534Pro)
c.1585A>C (p.Thr529Pro)
c.1444A>C (p.Thr482Pro)
c.1255A>C (p.Thr419Pro)
c.1240A>C (p.Thr414Pro)
c.745A>C (p.Thr249Pro)
c.556A>C (p.Thr186Pro)
10g.86716632A>GCA5585179LDB3n.515-2095A>G
c.1348A>G (p.Thr450Ala)
c.1396A>G (p.Thr466Ala)
c.1537A>G (p.Thr513Ala)
c.1207A>G (p.Thr403Ala)
c.1552A>G (p.Thr518Ala)
c.1789A>G (p.Thr597Ala)
c.1741A>G (p.Thr581Ala)
c.1600A>G (p.Thr534Ala)
c.1585A>G (p.Thr529Ala)
c.1444A>G (p.Thr482Ala)
c.1255A>G (p.Thr419Ala)
c.1240A>G (p.Thr414Ala)
c.745A>G (p.Thr249Ala)
c.556A>G (p.Thr186Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.86716632A>TCA377451213LDB3n.515-2095A>T
c.1348A>T (p.Thr450Ser)
c.1396A>T (p.Thr466Ser)
c.1537A>T (p.Thr513Ser)
c.1207A>T (p.Thr403Ser)
c.1552A>T (p.Thr518Ser)
c.1789A>T (p.Thr597Ser)
c.1741A>T (p.Thr581Ser)
c.1600A>T (p.Thr534Ser)
c.1585A>T (p.Thr529Ser)
c.1444A>T (p.Thr482Ser)
c.1255A>T (p.Thr419Ser)
c.1240A>T (p.Thr414Ser)
c.745A>T (p.Thr249Ser)
c.556A>T (p.Thr186Ser)
10g.86716633C>ACA5585180LDB3n.515-2094C>A
c.1349C>A (p.Thr450Asn)
c.1397C>A (p.Thr466Asn)
c.1538C>A (p.Thr513Asn)
c.1208C>A (p.Thr403Asn)
c.1553C>A (p.Thr518Asn)
c.1790C>A (p.Thr597Asn)
c.1742C>A (p.Thr581Asn)
c.1601C>A (p.Thr534Asn)
c.1586C>A (p.Thr529Asn)
c.1445C>A (p.Thr482Asn)
c.1256C>A (p.Thr419Asn)
c.1241C>A (p.Thr414Asn)
c.746C>A (p.Thr249Asn)
c.557C>A (p.Thr186Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716633C=CA1925631966LDB3n.515-2094C=
c.1349C= (p.Thr450=)
c.1397C= (p.Thr466=)
c.1538C= (p.Thr513=)
c.1208C= (p.Thr403=)
c.1553C= (p.Thr518=)
c.1790C= (p.Thr597=)
c.1742C= (p.Thr581=)
c.1601C= (p.Thr534=)
c.1586C= (p.Thr529=)
c.1445C= (p.Thr482=)
c.1256C= (p.Thr419=)
c.1241C= (p.Thr414=)
c.746C= (p.Thr249=)
c.557C= (p.Thr186=)
10g.86716633C>GCA377451216LDB3n.515-2094C>G
c.1349C>G (p.Thr450Ser)
c.1397C>G (p.Thr466Ser)
c.1538C>G (p.Thr513Ser)
c.1208C>G (p.Thr403Ser)
c.1553C>G (p.Thr518Ser)
c.1790C>G (p.Thr597Ser)
c.1742C>G (p.Thr581Ser)
c.1601C>G (p.Thr534Ser)
c.1586C>G (p.Thr529Ser)
c.1445C>G (p.Thr482Ser)
c.1256C>G (p.Thr419Ser)
c.1241C>G (p.Thr414Ser)
c.746C>G (p.Thr249Ser)
c.557C>G (p.Thr186Ser)
10g.86716633C>TCA377451219LDB3n.515-2094C>T
c.1349C>T (p.Thr450Ile)
c.1397C>T (p.Thr466Ile)
c.1538C>T (p.Thr513Ile)
c.1208C>T (p.Thr403Ile)
c.1553C>T (p.Thr518Ile)
c.1790C>T (p.Thr597Ile)
c.1742C>T (p.Thr581Ile)
c.1601C>T (p.Thr534Ile)
c.1586C>T (p.Thr529Ile)
c.1445C>T (p.Thr482Ile)
c.1256C>T (p.Thr419Ile)
c.1241C>T (p.Thr414Ile)
c.746C>T (p.Thr249Ile)
c.557C>T (p.Thr186Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.86716634C>ACA470375925LDB3n.515-2093C>A
c.1350C>A (p.Thr450=)
c.1398C>A (p.Thr466=)
c.1539C>A (p.Thr513=)
c.1209C>A (p.Thr403=)
c.1554C>A (p.Thr518=)
c.1791C>A (p.Thr597=)
c.1743C>A (p.Thr581=)
c.1602C>A (p.Thr534=)
c.1587C>A (p.Thr529=)
c.1446C>A (p.Thr482=)
c.1257C>A (p.Thr419=)
c.1242C>A (p.Thr414=)
c.747C>A (p.Thr249=)
c.558C>A (p.Thr186=)
10g.86716634C=CA1925631967LDB3n.515-2093C=
c.1350C= (p.Thr450=)
c.1398C= (p.Thr466=)
c.1539C= (p.Thr513=)
c.1209C= (p.Thr403=)
c.1554C= (p.Thr518=)
c.1791C= (p.Thr597=)
c.1743C= (p.Thr581=)
c.1602C= (p.Thr534=)
c.1587C= (p.Thr529=)
c.1446C= (p.Thr482=)
c.1257C= (p.Thr419=)
c.1242C= (p.Thr414=)
c.747C= (p.Thr249=)
c.558C= (p.Thr186=)
10g.86716634C>GCA470375928LDB3n.515-2093C>G
c.1350C>G (p.Thr450=)
c.1398C>G (p.Thr466=)
c.1539C>G (p.Thr513=)
c.1209C>G (p.Thr403=)
c.1554C>G (p.Thr518=)
c.1791C>G (p.Thr597=)
c.1743C>G (p.Thr581=)
c.1602C>G (p.Thr534=)
c.1587C>G (p.Thr529=)
c.1446C>G (p.Thr482=)
c.1257C>G (p.Thr419=)
c.1242C>G (p.Thr414=)
c.747C>G (p.Thr249=)
c.558C>G (p.Thr186=)
 ClinVar dbSNP gnomAD v4
10g.86716634C>TCA470375930LDB3n.515-2093C>T
c.1350C>T (p.Thr450=)
c.1398C>T (p.Thr466=)
c.1539C>T (p.Thr513=)
c.1209C>T (p.Thr403=)
c.1554C>T (p.Thr518=)
c.1791C>T (p.Thr597=)
c.1743C>T (p.Thr581=)
c.1602C>T (p.Thr534=)
c.1587C>T (p.Thr529=)
c.1446C>T (p.Thr482=)
c.1257C>T (p.Thr419=)
c.1242C>T (p.Thr414=)
c.747C>T (p.Thr249=)
c.558C>T (p.Thr186=)
 dbSNP gnomAD v2 gnomAD v4
10g.86716635C>ACA377451220LDB3n.515-2092C>A
c.1351C>A (p.Leu451Met)
c.1399C>A (p.Leu467Met)
c.1540C>A (p.Leu514Met)
c.1210C>A (p.Leu404Met)
c.1555C>A (p.Leu519Met)
c.1792C>A (p.Leu598Met)
c.1744C>A (p.Leu582Met)
c.1603C>A (p.Leu535Met)
c.1588C>A (p.Leu530Met)
c.1447C>A (p.Leu483Met)
c.1258C>A (p.Leu420Met)
c.1243C>A (p.Leu415Met)
c.748C>A (p.Leu250Met)
c.559C>A (p.Leu187Met)
10g.86716635C=CA1925631968LDB3n.515-2092C=
c.1351C= (p.Leu451=)
c.1399C= (p.Leu467=)
c.1540C= (p.Leu514=)
c.1210C= (p.Leu404=)
c.1555C= (p.Leu519=)
c.1792C= (p.Leu598=)
c.1744C= (p.Leu582=)
c.1603C= (p.Leu535=)
c.1588C= (p.Leu530=)
c.1447C= (p.Leu483=)
c.1258C= (p.Leu420=)
c.1243C= (p.Leu415=)
c.748C= (p.Leu250=)
c.559C= (p.Leu187=)
10g.86716635C>GCA5585181LDB3n.515-2092C>G
c.1351C>G (p.Leu451Val)
c.1399C>G (p.Leu467Val)
c.1540C>G (p.Leu514Val)
c.1210C>G (p.Leu404Val)
c.1555C>G (p.Leu519Val)
c.1792C>G (p.Leu598Val)
c.1744C>G (p.Leu582Val)
c.1603C>G (p.Leu535Val)
c.1588C>G (p.Leu530Val)
c.1447C>G (p.Leu483Val)
c.1258C>G (p.Leu420Val)
c.1243C>G (p.Leu415Val)
c.748C>G (p.Leu250Val)
c.559C>G (p.Leu187Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.86716635C>TCA470375933LDB3n.515-2092C>T
c.1351C>T (p.Leu451=)
c.1399C>T (p.Leu467=)
c.1540C>T (p.Leu514=)
c.1210C>T (p.Leu404=)
c.1555C>T (p.Leu519=)
c.1792C>T (p.Leu598=)
c.1744C>T (p.Leu582=)
c.1603C>T (p.Leu535=)
c.1588C>T (p.Leu530=)
c.1447C>T (p.Leu483=)
c.1258C>T (p.Leu420=)
c.1243C>T (p.Leu415=)
c.748C>T (p.Leu250=)
c.559C>T (p.Leu187=)
 COSMIC COSMIC COSMIC
10g.86716636T>ACA377451222LDB3n.515-2091T>A
c.1352T>A (p.Leu451Gln)
c.1400T>A (p.Leu467Gln)
c.1541T>A (p.Leu514Gln)
c.1211T>A (p.Leu404Gln)
c.1556T>A (p.Leu519Gln)
c.1793T>A (p.Leu598Gln)
c.1745T>A (p.Leu582Gln)
c.1604T>A (p.Leu535Gln)
c.1589T>A (p.Leu530Gln)
c.1448T>A (p.Leu483Gln)
c.1259T>A (p.Leu420Gln)
c.1244T>A (p.Leu415Gln)
c.749T>A (p.Leu250Gln)
c.560T>A (p.Leu187Gln)
10g.86716636T>CCA377451224LDB3n.515-2091T>C
c.1352T>C (p.Leu451Pro)
c.1400T>C (p.Leu467Pro)
c.1541T>C (p.Leu514Pro)
c.1211T>C (p.Leu404Pro)
c.1556T>C (p.Leu519Pro)
c.1793T>C (p.Leu598Pro)
c.1745T>C (p.Leu582Pro)
c.1604T>C (p.Leu535Pro)
c.1589T>C (p.Leu530Pro)
c.1448T>C (p.Leu483Pro)
c.1259T>C (p.Leu420Pro)
c.1244T>C (p.Leu415Pro)
c.749T>C (p.Leu250Pro)
c.560T>C (p.Leu187Pro)
10g.86716636T>GCA377451226LDB3n.515-2091T>G
c.1352T>G (p.Leu451Arg)
c.1400T>G (p.Leu467Arg)
c.1541T>G (p.Leu514Arg)
c.1211T>G (p.Leu404Arg)
c.1556T>G (p.Leu519Arg)
c.1793T>G (p.Leu598Arg)
c.1745T>G (p.Leu582Arg)
c.1604T>G (p.Leu535Arg)
c.1589T>G (p.Leu530Arg)
c.1448T>G (p.Leu483Arg)
c.1259T>G (p.Leu420Arg)
c.1244T>G (p.Leu415Arg)
c.749T>G (p.Leu250Arg)
c.560T>G (p.Leu187Arg)
10g.86716637G>ACA470375944LDB3n.515-2090G>A
c.1353G>A (p.Leu451=)
c.1401G>A (p.Leu467=)
c.1542G>A (p.Leu514=)
c.1212G>A (p.Leu404=)
c.1557G>A (p.Leu519=)
c.1794G>A (p.Leu598=)
c.1746G>A (p.Leu582=)
c.1605G>A (p.Leu535=)
c.1590G>A (p.Leu530=)
c.1449G>A (p.Leu483=)
c.1260G>A (p.Leu420=)
c.1245G>A (p.Leu415=)
c.750G>A (p.Leu250=)
c.561G>A (p.Leu187=)
 gnomAD v4
10g.86716637G>CCA470375946LDB3n.515-2090G>C
c.1353G>C (p.Leu451=)
c.1401G>C (p.Leu467=)
c.1542G>C (p.Leu514=)
c.1212G>C (p.Leu404=)
c.1557G>C (p.Leu519=)
c.1794G>C (p.Leu598=)
c.1746G>C (p.Leu582=)
c.1605G>C (p.Leu535=)
c.1590G>C (p.Leu530=)
c.1449G>C (p.Leu483=)
c.1260G>C (p.Leu420=)
c.1245G>C (p.Leu415=)
c.750G>C (p.Leu250=)
c.561G>C (p.Leu187=)
10g.86716637G=CA1925631969LDB3n.515-2090G=
c.1353G= (p.Leu451=)
c.1401G= (p.Leu467=)
c.1542G= (p.Leu514=)
c.1212G= (p.Leu404=)
c.1557G= (p.Leu519=)
c.1794G= (p.Leu598=)
c.1746G= (p.Leu582=)
c.1605G= (p.Leu535=)
c.1590G= (p.Leu530=)
c.1449G= (p.Leu483=)
c.1260G= (p.Leu420=)
c.1245G= (p.Leu415=)
c.750G= (p.Leu250=)
c.561G= (p.Leu187=)
10g.86716637G>TCA470375949LDB3n.515-2090G>T
c.1353G>T (p.Leu451=)
c.1401G>T (p.Leu467=)
c.1542G>T (p.Leu514=)
c.1212G>T (p.Leu404=)
c.1557G>T (p.Leu519=)
c.1794G>T (p.Leu598=)
c.1746G>T (p.Leu582=)
c.1605G>T (p.Leu535=)
c.1590G>T (p.Leu530=)
c.1449G>T (p.Leu483=)
c.1260G>T (p.Leu420=)
c.1245G>T (p.Leu415=)
c.750G>T (p.Leu250=)
c.561G>T (p.Leu187=)
 dbSNP gnomAD v3 gnomAD v4
10g.86716638C>ACA377451232LDB3n.515-2089C>A
c.1354C>A (p.Pro452Thr)
c.1402C>A (p.Pro468Thr)
c.1543C>A (p.Pro515Thr)
c.1213C>A (p.Pro405Thr)
c.1558C>A (p.Pro520Thr)
c.1795C>A (p.Pro599Thr)
c.1747C>A (p.Pro583Thr)
c.1606C>A (p.Pro536Thr)
c.1591C>A (p.Pro531Thr)
c.1450C>A (p.Pro484Thr)
c.1261C>A (p.Pro421Thr)
c.1246C>A (p.Pro416Thr)
c.751C>A (p.Pro251Thr)
c.562C>A (p.Pro188Thr)
10g.86716638C=CA1925631970LDB3n.515-2089C=
c.1354C= (p.Pro452=)
c.1402C= (p.Pro468=)
c.1543C= (p.Pro515=)
c.1213C= (p.Pro405=)
c.1558C= (p.Pro520=)
c.1795C= (p.Pro599=)
c.1747C= (p.Pro583=)
c.1606C= (p.Pro536=)
c.1591C= (p.Pro531=)
c.1450C= (p.Pro484=)
c.1261C= (p.Pro421=)
c.1246C= (p.Pro416=)
c.751C= (p.Pro251=)
c.562C= (p.Pro188=)
10g.86716638C>GCA377451230LDB3n.515-2089C>G
c.1354C>G (p.Pro452Ala)
c.1402C>G (p.Pro468Ala)
c.1543C>G (p.Pro515Ala)
c.1213C>G (p.Pro405Ala)
c.1558C>G (p.Pro520Ala)
c.1795C>G (p.Pro599Ala)
c.1747C>G (p.Pro583Ala)
c.1606C>G (p.Pro536Ala)
c.1591C>G (p.Pro531Ala)
c.1450C>G (p.Pro484Ala)
c.1261C>G (p.Pro421Ala)
c.1246C>G (p.Pro416Ala)
c.751C>G (p.Pro251Ala)
c.562C>G (p.Pro188Ala)
10g.86716638C>TCA377451228LDB3n.515-2089C>T
c.1354C>T (p.Pro452Ser)
c.1402C>T (p.Pro468Ser)
c.1543C>T (p.Pro515Ser)
c.1213C>T (p.Pro405Ser)
c.1558C>T (p.Pro520Ser)
c.1795C>T (p.Pro599Ser)
c.1747C>T (p.Pro583Ser)
c.1606C>T (p.Pro536Ser)
c.1591C>T (p.Pro531Ser)
c.1450C>T (p.Pro484Ser)
c.1261C>T (p.Pro421Ser)
c.1246C>T (p.Pro416Ser)
c.751C>T (p.Pro251Ser)
c.562C>T (p.Pro188Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.86716641delCA2609997616LDB3n.515-2086del
c.1357del (p.Arg453GlyfsTer?)
c.1405del (p.Arg469GlyfsTer?)
c.1546del (p.Arg516GlyfsTer?)
c.1216del (p.Arg406GlyfsTer?)
c.1561del (p.Arg521GlyfsTer?)
c.1798del (p.Arg600GlyfsTer?)
c.1750del (p.Arg584GlyfsTer?)
c.1609del (p.Arg537GlyfsTer?)
c.1594del (p.Arg532GlyfsTer?)
c.1453del (p.Arg485GlyfsTer?)
c.1264del (p.Arg422GlyfsTer?)
c.1249del (p.Arg417GlyfsTer?)
c.754del (p.Arg252GlyfsTer?)
c.565del (p.Arg189GlyfsTer?)
 gnomAD v4
10g.86716639C>ACA377451234LDB3n.515-2088C>A
c.1355C>A (p.Pro452His)
c.1403C>A (p.Pro468His)
c.1544C>A (p.Pro515His)
c.1214C>A (p.Pro405His)
c.1559C>A (p.Pro520His)
c.1796C>A (p.Pro599His)
c.1748C>A (p.Pro583His)
c.1607C>A (p.Pro536His)
c.1592C>A (p.Pro531His)
c.1451C>A (p.Pro484His)
c.1262C>A (p.Pro421His)
c.1247C>A (p.Pro416His)
c.752C>A (p.Pro251His)
c.563C>A (p.Pro188His)
10g.86716639C>GCA377451236LDB3n.515-2088C>G
c.1355C>G (p.Pro452Arg)
c.1403C>G (p.Pro468Arg)
c.1544C>G (p.Pro515Arg)
c.1214C>G (p.Pro405Arg)
c.1559C>G (p.Pro520Arg)
c.1796C>G (p.Pro599Arg)
c.1748C>G (p.Pro583Arg)
c.1607C>G (p.Pro536Arg)
c.1592C>G (p.Pro531Arg)
c.1451C>G (p.Pro484Arg)
c.1262C>G (p.Pro421Arg)
c.1247C>G (p.Pro416Arg)
c.752C>G (p.Pro251Arg)
c.563C>G (p.Pro188Arg)
 gnomAD v4
10g.86716639C>TCA377451238LDB3n.515-2088C>T
c.1355C>T (p.Pro452Leu)
c.1403C>T (p.Pro468Leu)
c.1544C>T (p.Pro515Leu)
c.1214C>T (p.Pro405Leu)
c.1559C>T (p.Pro520Leu)
c.1796C>T (p.Pro599Leu)
c.1748C>T (p.Pro583Leu)
c.1607C>T (p.Pro536Leu)
c.1592C>T (p.Pro531Leu)
c.1451C>T (p.Pro484Leu)
c.1262C>T (p.Pro421Leu)
c.1247C>T (p.Pro416Leu)
c.752C>T (p.Pro251Leu)
c.563C>T (p.Pro188Leu)
 ClinVar gnomAD v4
10g.86716640C>ACA470375966LDB3n.515-2087C>A
c.1356C>A (p.Pro452=)
c.1404C>A (p.Pro468=)
c.1545C>A (p.Pro515=)
c.1215C>A (p.Pro405=)
c.1560C>A (p.Pro520=)
c.1797C>A (p.Pro599=)
c.1749C>A (p.Pro583=)
c.1608C>A (p.Pro536=)
c.1593C>A (p.Pro531=)
c.1452C>A (p.Pro484=)
c.1263C>A (p.Pro421=)
c.1248C>A (p.Pro416=)
c.753C>A (p.Pro251=)
c.564C>A (p.Pro188=)
10g.86716640C>GCA470375962LDB3n.515-2087C>G
c.1356C>G (p.Pro452=)
c.1404C>G (p.Pro468=)
c.1545C>G (p.Pro515=)
c.1215C>G (p.Pro405=)
c.1560C>G (p.Pro520=)
c.1797C>G (p.Pro599=)
c.1749C>G (p.Pro583=)
c.1608C>G (p.Pro536=)
c.1593C>G (p.Pro531=)
c.1452C>G (p.Pro484=)
c.1263C>G (p.Pro421=)
c.1248C>G (p.Pro416=)
c.753C>G (p.Pro251=)
c.564C>G (p.Pro188=)
10g.86716640C>TCA470375964LDB3n.515-2087C>T
c.1356C>T (p.Pro452=)
c.1404C>T (p.Pro468=)
c.1545C>T (p.Pro515=)
c.1215C>T (p.Pro405=)
c.1560C>T (p.Pro520=)
c.1797C>T (p.Pro599=)
c.1749C>T (p.Pro583=)
c.1608C>T (p.Pro536=)
c.1593C>T (p.Pro531=)
c.1452C>T (p.Pro484=)
c.1263C>T (p.Pro421=)
c.1248C>T (p.Pro416=)
c.753C>T (p.Pro251=)
c.564C>T (p.Pro188=)
10g.86716641C>ACA470375970LDB3n.515-2086C>A
c.1357C>A (p.Arg453=)
c.1405C>A (p.Arg469=)
c.1546C>A (p.Arg516=)
c.1216C>A (p.Arg406=)
c.1561C>A (p.Arg521=)
c.1798C>A (p.Arg600=)
c.1750C>A (p.Arg584=)
c.1609C>A (p.Arg537=)
c.1594C>A (p.Arg532=)
c.1453C>A (p.Arg485=)
c.1264C>A (p.Arg422=)
c.1249C>A (p.Arg417=)
c.754C>A (p.Arg252=)
c.565C>A (p.Arg189=)
10g.86716641C=CA1925631971LDB3n.515-2086C=
c.1357C= (p.Arg453=)
c.1405C= (p.Arg469=)
c.1546C= (p.Arg516=)
c.1216C= (p.Arg406=)
c.1561C= (p.Arg521=)
c.1798C= (p.Arg600=)
c.1750C= (p.Arg584=)
c.1609C= (p.Arg537=)
c.1594C= (p.Arg532=)
c.1453C= (p.Arg485=)
c.1264C= (p.Arg422=)
c.1249C= (p.Arg417=)
c.754C= (p.Arg252=)
c.565C= (p.Arg189=)
10g.86716641C>GCA377451240LDB3n.515-2086C>G
c.1357C>G (p.Arg453Gly)
c.1405C>G (p.Arg469Gly)
c.1546C>G (p.Arg516Gly)
c.1216C>G (p.Arg406Gly)
c.1561C>G (p.Arg521Gly)
c.1798C>G (p.Arg600Gly)
c.1750C>G (p.Arg584Gly)
c.1609C>G (p.Arg537Gly)
c.1594C>G (p.Arg532Gly)
c.1453C>G (p.Arg485Gly)
c.1264C>G (p.Arg422Gly)
c.1249C>G (p.Arg417Gly)
c.754C>G (p.Arg252Gly)
c.565C>G (p.Arg189Gly)
10g.86716641C>TCA5585182LDB3n.515-2086C>T
c.1357C>T (p.Arg453Trp)
c.1405C>T (p.Arg469Trp)
c.1546C>T (p.Arg516Trp)
c.1216C>T (p.Arg406Trp)
c.1561C>T (p.Arg521Trp)
c.1798C>T (p.Arg600Trp)
c.1750C>T (p.Arg584Trp)
c.1609C>T (p.Arg537Trp)
c.1594C>T (p.Arg532Trp)
c.1453C>T (p.Arg485Trp)
c.1264C>T (p.Arg422Trp)
c.1249C>T (p.Arg417Trp)
c.754C>T (p.Arg252Trp)
c.565C>T (p.Arg189Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716642G>ACA5585183LDB3n.515-2085G>A
c.1358G>A (p.Arg453Gln)
c.1406G>A (p.Arg469Gln)
c.1547G>A (p.Arg516Gln)
c.1217G>A (p.Arg406Gln)
c.1562G>A (p.Arg521Gln)
c.1799G>A (p.Arg600Gln)
c.1751G>A (p.Arg584Gln)
c.1610G>A (p.Arg537Gln)
c.1595G>A (p.Arg532Gln)
c.1454G>A (p.Arg485Gln)
c.1265G>A (p.Arg422Gln)
c.1250G>A (p.Arg417Gln)
c.755G>A (p.Arg252Gln)
c.566G>A (p.Arg189Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716642G>CCA377451243LDB3n.515-2085G>C
c.1358G>C (p.Arg453Pro)
c.1406G>C (p.Arg469Pro)
c.1547G>C (p.Arg516Pro)
c.1217G>C (p.Arg406Pro)
c.1562G>C (p.Arg521Pro)
c.1799G>C (p.Arg600Pro)
c.1751G>C (p.Arg584Pro)
c.1610G>C (p.Arg537Pro)
c.1595G>C (p.Arg532Pro)
c.1454G>C (p.Arg485Pro)
c.1265G>C (p.Arg422Pro)
c.1250G>C (p.Arg417Pro)
c.755G>C (p.Arg252Pro)
c.566G>C (p.Arg189Pro)
10g.86716642G=CA1925631972LDB3n.515-2085G=
c.1358G= (p.Arg453=)
c.1406G= (p.Arg469=)
c.1547G= (p.Arg516=)
c.1217G= (p.Arg406=)
c.1562G= (p.Arg521=)
c.1799G= (p.Arg600=)
c.1751G= (p.Arg584=)
c.1610G= (p.Arg537=)
c.1595G= (p.Arg532=)
c.1454G= (p.Arg485=)
c.1265G= (p.Arg422=)
c.1250G= (p.Arg417=)
c.755G= (p.Arg252=)
c.566G= (p.Arg189=)
10g.86716642G>TCA5585184LDB3n.515-2085G>T
c.1358G>T (p.Arg453Leu)
c.1406G>T (p.Arg469Leu)
c.1547G>T (p.Arg516Leu)
c.1217G>T (p.Arg406Leu)
c.1562G>T (p.Arg521Leu)
c.1799G>T (p.Arg600Leu)
c.1751G>T (p.Arg584Leu)
c.1610G>T (p.Arg537Leu)
c.1595G>T (p.Arg532Leu)
c.1454G>T (p.Arg485Leu)
c.1265G>T (p.Arg422Leu)
c.1250G>T (p.Arg417Leu)
c.755G>T (p.Arg252Leu)
c.566G>T (p.Arg189Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.86716645delCA2609997617LDB3n.515-2082del
c.1361del (p.Gly454GlufsTer?)
c.1409del (p.Gly470GlufsTer?)
c.1550del (p.Gly517GlufsTer?)
c.1220del (p.Gly407GlufsTer?)
c.1565del (p.Gly522GlufsTer?)
c.1802del (p.Gly601GlufsTer?)
c.1754del (p.Gly585GlufsTer?)
c.1613del (p.Gly538GlufsTer?)
c.1598del (p.Gly533GlufsTer?)
c.1457del (p.Gly486GlufsTer?)
c.1268del (p.Gly423GlufsTer?)
c.1253del (p.Gly418GlufsTer?)
c.758del (p.Gly253GlufsTer?)
c.569del (p.Gly190GlufsTer?)
 gnomAD v4
10g.86716643G>ACA5585185LDB3n.515-2084G>A
c.1359G>A (p.Arg453=)
c.1407G>A (p.Arg469=)
c.1548G>A (p.Arg516=)
c.1218G>A (p.Arg406=)
c.1563G>A (p.Arg521=)
c.1800G>A (p.Arg600=)
c.1752G>A (p.Arg584=)
c.1611G>A (p.Arg537=)
c.1596G>A (p.Arg532=)
c.1455G>A (p.Arg485=)
c.1266G>A (p.Arg422=)
c.1251G>A (p.Arg417=)
c.756G>A (p.Arg252=)
c.567G>A (p.Arg189=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716643G>CCA470375983LDB3n.515-2084G>C
c.1359G>C (p.Arg453=)
c.1407G>C (p.Arg469=)
c.1548G>C (p.Arg516=)
c.1218G>C (p.Arg406=)
c.1563G>C (p.Arg521=)
c.1800G>C (p.Arg600=)
c.1752G>C (p.Arg584=)
c.1611G>C (p.Arg537=)
c.1596G>C (p.Arg532=)
c.1455G>C (p.Arg485=)
c.1266G>C (p.Arg422=)
c.1251G>C (p.Arg417=)
c.756G>C (p.Arg252=)
c.567G>C (p.Arg189=)
10g.86716643G=CA1925631973LDB3n.515-2084G=
c.1359G= (p.Arg453=)
c.1407G= (p.Arg469=)
c.1548G= (p.Arg516=)
c.1218G= (p.Arg406=)
c.1563G= (p.Arg521=)
c.1800G= (p.Arg600=)
c.1752G= (p.Arg584=)
c.1611G= (p.Arg537=)
c.1596G= (p.Arg532=)
c.1455G= (p.Arg485=)
c.1266G= (p.Arg422=)
c.1251G= (p.Arg417=)
c.756G= (p.Arg252=)
c.567G= (p.Arg189=)
10g.86716643G>TCA470375985LDB3n.515-2084G>T
c.1359G>T (p.Arg453=)
c.1407G>T (p.Arg469=)
c.1548G>T (p.Arg516=)
c.1218G>T (p.Arg406=)
c.1563G>T (p.Arg521=)
c.1800G>T (p.Arg600=)
c.1752G>T (p.Arg584=)
c.1611G>T (p.Arg537=)
c.1596G>T (p.Arg532=)
c.1455G>T (p.Arg485=)
c.1266G>T (p.Arg422=)
c.1251G>T (p.Arg417=)
c.756G>T (p.Arg252=)
c.567G>T (p.Arg189=)
10g.86716644G>ACA377451248LDB3n.515-2083G>A
c.1360G>A (p.Gly454Arg)
c.1408G>A (p.Gly470Arg)
c.1549G>A (p.Gly517Arg)
c.1219G>A (p.Gly407Arg)
c.1564G>A (p.Gly522Arg)
c.1801G>A (p.Gly601Arg)
c.1753G>A (p.Gly585Arg)
c.1612G>A (p.Gly538Arg)
c.1597G>A (p.Gly533Arg)
c.1456G>A (p.Gly486Arg)
c.1267G>A (p.Gly423Arg)
c.1252G>A (p.Gly418Arg)
c.757G>A (p.Gly253Arg)
c.568G>A (p.Gly190Arg)
10g.86716644G>CCA377451250LDB3n.515-2083G>C
c.1360G>C (p.Gly454Arg)
c.1408G>C (p.Gly470Arg)
c.1549G>C (p.Gly517Arg)
c.1219G>C (p.Gly407Arg)
c.1564G>C (p.Gly522Arg)
c.1801G>C (p.Gly601Arg)
c.1753G>C (p.Gly585Arg)
c.1612G>C (p.Gly538Arg)
c.1597G>C (p.Gly533Arg)
c.1456G>C (p.Gly486Arg)
c.1267G>C (p.Gly423Arg)
c.1252G>C (p.Gly418Arg)
c.757G>C (p.Gly253Arg)
c.568G>C (p.Gly190Arg)
10g.86716644G=CA1925631974LDB3n.515-2083G=
c.1360G= (p.Gly454=)
c.1408G= (p.Gly470=)
c.1549G= (p.Gly517=)
c.1219G= (p.Gly407=)
c.1564G= (p.Gly522=)
c.1801G= (p.Gly601=)
c.1753G= (p.Gly585=)
c.1612G= (p.Gly538=)
c.1597G= (p.Gly533=)
c.1456G= (p.Gly486=)
c.1267G= (p.Gly423=)
c.1252G= (p.Gly418=)
c.757G= (p.Gly253=)
c.568G= (p.Gly190=)
10g.86716644G>TCA377451252LDB3n.515-2083G>T
c.1360G>T (p.Gly454Ter)
c.1408G>T (p.Gly470Ter)
c.1549G>T (p.Gly517Ter)
c.1219G>T (p.Gly407Ter)
c.1564G>T (p.Gly522Ter)
c.1801G>T (p.Gly601Ter)
c.1753G>T (p.Gly585Ter)
c.1612G>T (p.Gly538Ter)
c.1597G>T (p.Gly533Ter)
c.1456G>T (p.Gly486Ter)
c.1267G>T (p.Gly423Ter)
c.1252G>T (p.Gly418Ter)
c.757G>T (p.Gly253Ter)
c.568G>T (p.Gly190Ter)
10g.86716645G>ACA377451261LDB3n.515-2082G>A
c.1361G>A (p.Gly454Glu)
c.1409G>A (p.Gly470Glu)
c.1550G>A (p.Gly517Glu)
c.1220G>A (p.Gly407Glu)
c.1565G>A (p.Gly522Glu)
c.1802G>A (p.Gly601Glu)
c.1754G>A (p.Gly585Glu)
c.1613G>A (p.Gly538Glu)
c.1598G>A (p.Gly533Glu)
c.1457G>A (p.Gly486Glu)
c.1268G>A (p.Gly423Glu)
c.1253G>A (p.Gly418Glu)
c.758G>A (p.Gly253Glu)
c.569G>A (p.Gly190Glu)
10g.86716645G>CCA377451259LDB3n.515-2082G>C
c.1361G>C (p.Gly454Ala)
c.1409G>C (p.Gly470Ala)
c.1550G>C (p.Gly517Ala)
c.1220G>C (p.Gly407Ala)
c.1565G>C (p.Gly522Ala)
c.1802G>C (p.Gly601Ala)
c.1754G>C (p.Gly585Ala)
c.1613G>C (p.Gly538Ala)
c.1598G>C (p.Gly533Ala)
c.1457G>C (p.Gly486Ala)
c.1268G>C (p.Gly423Ala)
c.1253G>C (p.Gly418Ala)
c.758G>C (p.Gly253Ala)
c.569G>C (p.Gly190Ala)
10g.86716645G>TCA377451256LDB3n.515-2082G>T
c.1361G>T (p.Gly454Val)
c.1409G>T (p.Gly470Val)
c.1550G>T (p.Gly517Val)
c.1220G>T (p.Gly407Val)
c.1565G>T (p.Gly522Val)
c.1802G>T (p.Gly601Val)
c.1754G>T (p.Gly585Val)
c.1613G>T (p.Gly538Val)
c.1598G>T (p.Gly533Val)
c.1457G>T (p.Gly486Val)
c.1268G>T (p.Gly423Val)
c.1253G>T (p.Gly418Val)
c.758G>T (p.Gly253Val)
c.569G>T (p.Gly190Val)
10g.86716646_86716667dupCA930816424LDB3n.515-2081_515-2060dup
c.1362_1383dup (p.Gly462ArgfsTer23)
c.1410_1431dup (p.Gly478ArgfsTer23)
c.1551_1572dup (p.Gly525ArgfsTer23)
c.1221_1242dup (p.Gly415ArgfsTer23)
c.1566_1587dup (p.Gly530ArgfsTer23)
c.1803_1824dup (p.Gly609ArgfsTer23)
c.1755_1776dup (p.Gly593ArgfsTer23)
c.1614_1635dup (p.Gly546ArgfsTer23)
c.1599_1620dup (p.Gly541ArgfsTer23)
c.1458_1479dup (p.Gly494ArgfsTer23)
c.1269_1290dup (p.Gly431ArgfsTer23)
c.1254_1275dup (p.Gly426ArgfsTer23)
c.759_780dup (p.Gly261ArgfsTer23)
c.570_591dup (p.Gly198ArgfsTer23)
 dbSNP gnomAD v3 gnomAD v4
10g.86716646A>CCA470376002LDB3n.515-2081A>C
c.1362A>C (p.Gly454=)
c.1410A>C (p.Gly470=)
c.1551A>C (p.Gly517=)
c.1221A>C (p.Gly407=)
c.1566A>C (p.Gly522=)
c.1803A>C (p.Gly601=)
c.1755A>C (p.Gly585=)
c.1614A>C (p.Gly538=)
c.1599A>C (p.Gly533=)
c.1458A>C (p.Gly486=)
c.1269A>C (p.Gly423=)
c.1254A>C (p.Gly418=)
c.759A>C (p.Gly253=)
c.570A>C (p.Gly190=)
10g.86716646A>GCA470376006LDB3n.515-2081A>G
c.1362A>G (p.Gly454=)
c.1410A>G (p.Gly470=)
c.1551A>G (p.Gly517=)
c.1221A>G (p.Gly407=)
c.1566A>G (p.Gly522=)
c.1803A>G (p.Gly601=)
c.1755A>G (p.Gly585=)
c.1614A>G (p.Gly538=)
c.1599A>G (p.Gly533=)
c.1458A>G (p.Gly486=)
c.1269A>G (p.Gly423=)
c.1254A>G (p.Gly418=)
c.759A>G (p.Gly253=)
c.570A>G (p.Gly190=)
10g.86716646A>TCA470376004LDB3n.515-2081A>T
c.1362A>T (p.Gly454=)
c.1410A>T (p.Gly470=)
c.1551A>T (p.Gly517=)
c.1221A>T (p.Gly407=)
c.1566A>T (p.Gly522=)
c.1803A>T (p.Gly601=)
c.1755A>T (p.Gly585=)
c.1614A>T (p.Gly538=)
c.1599A>T (p.Gly533=)
c.1458A>T (p.Gly486=)
c.1269A>T (p.Gly423=)
c.1254A>T (p.Gly418=)
c.759A>T (p.Gly253=)
c.570A>T (p.Gly190=)
10g.86716647G>ACA377451263LDB3n.515-2080G>A
c.1363G>A (p.Gly455Ser)
c.1411G>A (p.Gly471Ser)
c.1552G>A (p.Gly518Ser)
c.1222G>A (p.Gly408Ser)
c.1567G>A (p.Gly523Ser)
c.1804G>A (p.Gly602Ser)
c.1756G>A (p.Gly586Ser)
c.1615G>A (p.Gly539Ser)
c.1600G>A (p.Gly534Ser)
c.1459G>A (p.Gly487Ser)
c.1270G>A (p.Gly424Ser)
c.1255G>A (p.Gly419Ser)
c.760G>A (p.Gly254Ser)
c.571G>A (p.Gly191Ser)
10g.86716647G>CCA377451265LDB3n.515-2080G>C
c.1363G>C (p.Gly455Arg)
c.1411G>C (p.Gly471Arg)
c.1552G>C (p.Gly518Arg)
c.1222G>C (p.Gly408Arg)
c.1567G>C (p.Gly523Arg)
c.1804G>C (p.Gly602Arg)
c.1756G>C (p.Gly586Arg)
c.1615G>C (p.Gly539Arg)
c.1600G>C (p.Gly534Arg)
c.1459G>C (p.Gly487Arg)
c.1270G>C (p.Gly424Arg)
c.1255G>C (p.Gly419Arg)
c.760G>C (p.Gly254Arg)
c.571G>C (p.Gly191Arg)
10g.86716647G>TCA377451266LDB3n.515-2080G>T
c.1363G>T (p.Gly455Cys)
c.1411G>T (p.Gly471Cys)
c.1552G>T (p.Gly518Cys)
c.1222G>T (p.Gly408Cys)
c.1567G>T (p.Gly523Cys)
c.1804G>T (p.Gly602Cys)
c.1756G>T (p.Gly586Cys)
c.1615G>T (p.Gly539Cys)
c.1600G>T (p.Gly534Cys)
c.1459G>T (p.Gly487Cys)
c.1270G>T (p.Gly424Cys)
c.1255G>T (p.Gly419Cys)
c.760G>T (p.Gly254Cys)
c.571G>T (p.Gly191Cys)
10g.86716648delCA2573332893LDB3n.515-2079del
c.1364del (p.Gly455AlafsTer?)
c.1412del (p.Gly471AlafsTer?)
c.1553del (p.Gly518AlafsTer?)
c.1223del (p.Gly408AlafsTer?)
c.1568del (p.Gly523AlafsTer?)
c.1805del (p.Gly602AlafsTer?)
c.1757del (p.Gly586AlafsTer?)
c.1616del (p.Gly539AlafsTer?)
c.1601del (p.Gly534AlafsTer?)
c.1460del (p.Gly487AlafsTer?)
c.1271del (p.Gly424AlafsTer?)
c.1256del (p.Gly419AlafsTer?)
c.761del (p.Gly254AlafsTer?)
c.572del (p.Gly191AlafsTer?)
10g.86716648G>ACA377451268LDB3n.515-2079G>A
c.1364G>A (p.Gly455Asp)
c.1412G>A (p.Gly471Asp)
c.1553G>A (p.Gly518Asp)
c.1223G>A (p.Gly408Asp)
c.1568G>A (p.Gly523Asp)
c.1805G>A (p.Gly602Asp)
c.1757G>A (p.Gly586Asp)
c.1616G>A (p.Gly539Asp)
c.1601G>A (p.Gly534Asp)
c.1460G>A (p.Gly487Asp)
c.1271G>A (p.Gly424Asp)
c.1256G>A (p.Gly419Asp)
c.761G>A (p.Gly254Asp)
c.572G>A (p.Gly191Asp)
 dbSNP
10g.86716648G>CCA377451269LDB3n.515-2079G>C
c.1364G>C (p.Gly455Ala)
c.1412G>C (p.Gly471Ala)
c.1553G>C (p.Gly518Ala)
c.1223G>C (p.Gly408Ala)
c.1568G>C (p.Gly523Ala)
c.1805G>C (p.Gly602Ala)
c.1757G>C (p.Gly586Ala)
c.1616G>C (p.Gly539Ala)
c.1601G>C (p.Gly534Ala)
c.1460G>C (p.Gly487Ala)
c.1271G>C (p.Gly424Ala)
c.1256G>C (p.Gly419Ala)
c.761G>C (p.Gly254Ala)
c.572G>C (p.Gly191Ala)
10g.86716648G=CA1925631975LDB3n.515-2079G=
c.1364G= (p.Gly455=)
c.1412G= (p.Gly471=)
c.1553G= (p.Gly518=)
c.1223G= (p.Gly408=)
c.1568G= (p.Gly523=)
c.1805G= (p.Gly602=)
c.1757G= (p.Gly586=)
c.1616G= (p.Gly539=)
c.1601G= (p.Gly534=)
c.1460G= (p.Gly487=)
c.1271G= (p.Gly424=)
c.1256G= (p.Gly419=)
c.761G= (p.Gly254=)
c.572G= (p.Gly191=)
10g.86716648G>TCA377451272LDB3n.515-2079G>T
c.1364G>T (p.Gly455Val)
c.1412G>T (p.Gly471Val)
c.1553G>T (p.Gly518Val)
c.1223G>T (p.Gly408Val)
c.1568G>T (p.Gly523Val)
c.1805G>T (p.Gly602Val)
c.1757G>T (p.Gly586Val)
c.1616G>T (p.Gly539Val)
c.1601G>T (p.Gly534Val)
c.1460G>T (p.Gly487Val)
c.1271G>T (p.Gly424Val)
c.1256G>T (p.Gly419Val)
c.761G>T (p.Gly254Val)
c.572G>T (p.Gly191Val)
 dbSNP
10g.86716649C>ACA470376027LDB3n.515-2078C>A
c.1365C>A (p.Gly455=)
c.1413C>A (p.Gly471=)
c.1554C>A (p.Gly518=)
c.1224C>A (p.Gly408=)
c.1569C>A (p.Gly523=)
c.1806C>A (p.Gly602=)
c.1758C>A (p.Gly586=)
c.1617C>A (p.Gly539=)
c.1602C>A (p.Gly534=)
c.1461C>A (p.Gly487=)
c.1272C>A (p.Gly424=)
c.1257C>A (p.Gly419=)
c.762C>A (p.Gly254=)
c.573C>A (p.Gly191=)
 gnomAD v4
10g.86716649C>GCA470376024LDB3n.515-2078C>G
c.1365C>G (p.Gly455=)
c.1413C>G (p.Gly471=)
c.1554C>G (p.Gly518=)
c.1224C>G (p.Gly408=)
c.1569C>G (p.Gly523=)
c.1806C>G (p.Gly602=)
c.1758C>G (p.Gly586=)
c.1617C>G (p.Gly539=)
c.1602C>G (p.Gly534=)
c.1461C>G (p.Gly487=)
c.1272C>G (p.Gly424=)
c.1257C>G (p.Gly419=)
c.762C>G (p.Gly254=)
c.573C>G (p.Gly191=)
10g.86716649C>TCA470376022LDB3n.515-2078C>T
c.1365C>T (p.Gly455=)
c.1413C>T (p.Gly471=)
c.1554C>T (p.Gly518=)
c.1224C>T (p.Gly408=)
c.1569C>T (p.Gly523=)
c.1806C>T (p.Gly602=)
c.1758C>T (p.Gly586=)
c.1617C>T (p.Gly539=)
c.1602C>T (p.Gly534=)
c.1461C>T (p.Gly487=)
c.1272C>T (p.Gly424=)
c.1257C>T (p.Gly419=)
c.762C>T (p.Gly254=)
c.573C>T (p.Gly191=)
10g.86716650C>ACA377451279LDB3n.515-2077C>A
c.1366C>A (p.Pro456Thr)
c.1414C>A (p.Pro472Thr)
c.1555C>A (p.Pro519Thr)
c.1225C>A (p.Pro409Thr)
c.1570C>A (p.Pro524Thr)
c.1807C>A (p.Pro603Thr)
c.1759C>A (p.Pro587Thr)
c.1618C>A (p.Pro540Thr)
c.1603C>A (p.Pro535Thr)
c.1462C>A (p.Pro488Thr)
c.1273C>A (p.Pro425Thr)
c.1258C>A (p.Pro420Thr)
c.763C>A (p.Pro255Thr)
c.574C>A (p.Pro192Thr)
10g.86716650C>GCA377451282LDB3n.515-2077C>G
c.1366C>G (p.Pro456Ala)
c.1414C>G (p.Pro472Ala)
c.1555C>G (p.Pro519Ala)
c.1225C>G (p.Pro409Ala)
c.1570C>G (p.Pro524Ala)
c.1807C>G (p.Pro603Ala)
c.1759C>G (p.Pro587Ala)
c.1618C>G (p.Pro540Ala)
c.1603C>G (p.Pro535Ala)
c.1462C>G (p.Pro488Ala)
c.1273C>G (p.Pro425Ala)
c.1258C>G (p.Pro420Ala)
c.763C>G (p.Pro255Ala)
c.574C>G (p.Pro192Ala)
10g.86716650C>TCA377451285LDB3n.515-2077C>T
c.1366C>T (p.Pro456Ser)
c.1414C>T (p.Pro472Ser)
c.1555C>T (p.Pro519Ser)
c.1225C>T (p.Pro409Ser)
c.1570C>T (p.Pro524Ser)
c.1807C>T (p.Pro603Ser)
c.1759C>T (p.Pro587Ser)
c.1618C>T (p.Pro540Ser)
c.1603C>T (p.Pro535Ser)
c.1462C>T (p.Pro488Ser)
c.1273C>T (p.Pro425Ser)
c.1258C>T (p.Pro420Ser)
c.763C>T (p.Pro255Ser)
c.574C>T (p.Pro192Ser)
10g.86716651C>ACA377451287LDB3n.515-2076C>A
c.1367C>A (p.Pro456Gln)
c.1415C>A (p.Pro472Gln)
c.1556C>A (p.Pro519Gln)
c.1226C>A (p.Pro409Gln)
c.1571C>A (p.Pro524Gln)
c.1808C>A (p.Pro603Gln)
c.1760C>A (p.Pro587Gln)
c.1619C>A (p.Pro540Gln)
c.1604C>A (p.Pro535Gln)
c.1463C>A (p.Pro488Gln)
c.1274C>A (p.Pro425Gln)
c.1259C>A (p.Pro420Gln)
c.764C>A (p.Pro255Gln)
c.575C>A (p.Pro192Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.86716651C=CA1925631976LDB3n.515-2076C=
c.1367C= (p.Pro456=)
c.1415C= (p.Pro472=)
c.1556C= (p.Pro519=)
c.1226C= (p.Pro409=)
c.1571C= (p.Pro524=)
c.1808C= (p.Pro603=)
c.1760C= (p.Pro587=)
c.1619C= (p.Pro540=)
c.1604C= (p.Pro535=)
c.1463C= (p.Pro488=)
c.1274C= (p.Pro425=)
c.1259C= (p.Pro420=)
c.764C= (p.Pro255=)
c.575C= (p.Pro192=)
10g.86716651C>GCA377451288LDB3n.515-2076C>G
c.1367C>G (p.Pro456Arg)
c.1415C>G (p.Pro472Arg)
c.1556C>G (p.Pro519Arg)
c.1226C>G (p.Pro409Arg)
c.1571C>G (p.Pro524Arg)
c.1808C>G (p.Pro603Arg)
c.1760C>G (p.Pro587Arg)
c.1619C>G (p.Pro540Arg)
c.1604C>G (p.Pro535Arg)
c.1463C>G (p.Pro488Arg)
c.1274C>G (p.Pro425Arg)
c.1259C>G (p.Pro420Arg)
c.764C>G (p.Pro255Arg)
c.575C>G (p.Pro192Arg)
10g.86716651C>TCA377451290LDB3n.515-2076C>T
c.1367C>T (p.Pro456Leu)
c.1415C>T (p.Pro472Leu)
c.1556C>T (p.Pro519Leu)
c.1226C>T (p.Pro409Leu)
c.1571C>T (p.Pro524Leu)
c.1808C>T (p.Pro603Leu)
c.1760C>T (p.Pro587Leu)
c.1619C>T (p.Pro540Leu)
c.1604C>T (p.Pro535Leu)
c.1463C>T (p.Pro488Leu)
c.1274C>T (p.Pro425Leu)
c.1259C>T (p.Pro420Leu)
c.764C>T (p.Pro255Leu)
c.575C>T (p.Pro192Leu)
10g.86716652A>CCA470376037LDB3n.515-2075A>C
c.1368A>C (p.Pro456=)
c.1416A>C (p.Pro472=)
c.1557A>C (p.Pro519=)
c.1227A>C (p.Pro409=)
c.1572A>C (p.Pro524=)
c.1809A>C (p.Pro603=)
c.1761A>C (p.Pro587=)
c.1620A>C (p.Pro540=)
c.1605A>C (p.Pro535=)
c.1464A>C (p.Pro488=)
c.1275A>C (p.Pro425=)
c.1260A>C (p.Pro420=)
c.765A>C (p.Pro255=)
c.576A>C (p.Pro192=)
10g.86716652A>GCA470376042LDB3n.515-2075A>G
c.1368A>G (p.Pro456=)
c.1416A>G (p.Pro472=)
c.1557A>G (p.Pro519=)
c.1227A>G (p.Pro409=)
c.1572A>G (p.Pro524=)
c.1809A>G (p.Pro603=)
c.1761A>G (p.Pro587=)
c.1620A>G (p.Pro540=)
c.1605A>G (p.Pro535=)
c.1464A>G (p.Pro488=)
c.1275A>G (p.Pro425=)
c.1260A>G (p.Pro420=)
c.765A>G (p.Pro255=)
c.576A>G (p.Pro192=)
10g.86716652A>TCA470376040LDB3n.515-2075A>T
c.1368A>T (p.Pro456=)
c.1416A>T (p.Pro472=)
c.1557A>T (p.Pro519=)
c.1227A>T (p.Pro409=)
c.1572A>T (p.Pro524=)
c.1809A>T (p.Pro603=)
c.1761A>T (p.Pro587=)
c.1620A>T (p.Pro540=)
c.1605A>T (p.Pro535=)
c.1464A>T (p.Pro488=)
c.1275A>T (p.Pro425=)
c.1260A>T (p.Pro420=)
c.765A>T (p.Pro255=)
c.576A>T (p.Pro192=)
10g.86716653G>ACA211205555LDB3n.515-2074G>A
c.1369G>A (p.Ala457Thr)
c.1417G>A (p.Ala473Thr)
c.1558G>A (p.Ala520Thr)
c.1228G>A (p.Ala410Thr)
c.1573G>A (p.Ala525Thr)
c.1810G>A (p.Ala604Thr)
c.1762G>A (p.Ala588Thr)
c.1621G>A (p.Ala541Thr)
c.1606G>A (p.Ala536Thr)
c.1465G>A (p.Ala489Thr)
c.1276G>A (p.Ala426Thr)
c.1261G>A (p.Ala421Thr)
c.766G>A (p.Ala256Thr)
c.577G>A (p.Ala193Thr)
 dbSNP gnomAD v2 gnomAD v4
10g.86716653G>CCA377451295LDB3n.515-2074G>C
c.1369G>C (p.Ala457Pro)
c.1417G>C (p.Ala473Pro)
c.1558G>C (p.Ala520Pro)
c.1228G>C (p.Ala410Pro)
c.1573G>C (p.Ala525Pro)
c.1810G>C (p.Ala604Pro)
c.1762G>C (p.Ala588Pro)
c.1621G>C (p.Ala541Pro)
c.1606G>C (p.Ala536Pro)
c.1465G>C (p.Ala489Pro)
c.1276G>C (p.Ala426Pro)
c.1261G>C (p.Ala421Pro)
c.766G>C (p.Ala256Pro)
c.577G>C (p.Ala193Pro)
 dbSNP gnomAD v4
10g.86716653G=CA1925631977LDB3n.515-2074G=
c.1369G= (p.Ala457=)
c.1417G= (p.Ala473=)
c.1558G= (p.Ala520=)
c.1228G= (p.Ala410=)
c.1573G= (p.Ala525=)
c.1810G= (p.Ala604=)
c.1762G= (p.Ala588=)
c.1621G= (p.Ala541=)
c.1606G= (p.Ala536=)
c.1465G= (p.Ala489=)
c.1276G= (p.Ala426=)
c.1261G= (p.Ala421=)
c.766G= (p.Ala256=)
c.577G= (p.Ala193=)
10g.86716653G>TCA377451293LDB3n.515-2074G>T
c.1369G>T (p.Ala457Ser)
c.1417G>T (p.Ala473Ser)
c.1558G>T (p.Ala520Ser)
c.1228G>T (p.Ala410Ser)
c.1573G>T (p.Ala525Ser)
c.1810G>T (p.Ala604Ser)
c.1762G>T (p.Ala588Ser)
c.1621G>T (p.Ala541Ser)
c.1606G>T (p.Ala536Ser)
c.1465G>T (p.Ala489Ser)
c.1276G>T (p.Ala426Ser)
c.1261G>T (p.Ala421Ser)
c.766G>T (p.Ala256Ser)
c.577G>T (p.Ala193Ser)
 dbSNP gnomAD v3 gnomAD v4
10g.86716654C>ACA377451298LDB3n.515-2073C>A
c.1370C>A (p.Ala457Asp)
c.1418C>A (p.Ala473Asp)
c.1559C>A (p.Ala520Asp)
c.1229C>A (p.Ala410Asp)
c.1574C>A (p.Ala525Asp)
c.1811C>A (p.Ala604Asp)
c.1763C>A (p.Ala588Asp)
c.1622C>A (p.Ala541Asp)
c.1607C>A (p.Ala536Asp)
c.1466C>A (p.Ala489Asp)
c.1277C>A (p.Ala426Asp)
c.1262C>A (p.Ala421Asp)
c.767C>A (p.Ala256Asp)
c.578C>A (p.Ala193Asp)
10g.86716654C>GCA377451302LDB3n.515-2073C>G
c.1370C>G (p.Ala457Gly)
c.1418C>G (p.Ala473Gly)
c.1559C>G (p.Ala520Gly)
c.1229C>G (p.Ala410Gly)
c.1574C>G (p.Ala525Gly)
c.1811C>G (p.Ala604Gly)
c.1763C>G (p.Ala588Gly)
c.1622C>G (p.Ala541Gly)
c.1607C>G (p.Ala536Gly)
c.1466C>G (p.Ala489Gly)
c.1277C>G (p.Ala426Gly)
c.1262C>G (p.Ala421Gly)
c.767C>G (p.Ala256Gly)
c.578C>G (p.Ala193Gly)
10g.86716654C>TCA377451300LDB3n.515-2073C>T
c.1370C>T (p.Ala457Val)
c.1418C>T (p.Ala473Val)
c.1559C>T (p.Ala520Val)
c.1229C>T (p.Ala410Val)
c.1574C>T (p.Ala525Val)
c.1811C>T (p.Ala604Val)
c.1763C>T (p.Ala588Val)
c.1622C>T (p.Ala541Val)
c.1607C>T (p.Ala536Val)
c.1466C>T (p.Ala489Val)
c.1277C>T (p.Ala426Val)
c.1262C>T (p.Ala421Val)
c.767C>T (p.Ala256Val)
c.578C>T (p.Ala193Val)
 gnomAD v4
10g.86716655C>ACA470376058LDB3n.515-2072C>A
c.1371C>A (p.Ala457=)
c.1419C>A (p.Ala473=)
c.1560C>A (p.Ala520=)
c.1230C>A (p.Ala410=)
c.1575C>A (p.Ala525=)
c.1812C>A (p.Ala604=)
c.1764C>A (p.Ala588=)
c.1623C>A (p.Ala541=)
c.1608C>A (p.Ala536=)
c.1467C>A (p.Ala489=)
c.1278C>A (p.Ala426=)
c.1263C>A (p.Ala421=)
c.768C>A (p.Ala256=)
c.579C>A (p.Ala193=)
10g.86716655C>GCA470376060LDB3n.515-2072C>G
c.1371C>G (p.Ala457=)
c.1419C>G (p.Ala473=)
c.1560C>G (p.Ala520=)
c.1230C>G (p.Ala410=)
c.1575C>G (p.Ala525=)
c.1812C>G (p.Ala604=)
c.1764C>G (p.Ala588=)
c.1623C>G (p.Ala541=)
c.1608C>G (p.Ala536=)
c.1467C>G (p.Ala489=)
c.1278C>G (p.Ala426=)
c.1263C>G (p.Ala421=)
c.768C>G (p.Ala256=)
c.579C>G (p.Ala193=)
10g.86716655C>TCA470376063LDB3n.515-2072C>T
c.1371C>T (p.Ala457=)
c.1419C>T (p.Ala473=)
c.1560C>T (p.Ala520=)
c.1230C>T (p.Ala410=)
c.1575C>T (p.Ala525=)
c.1812C>T (p.Ala604=)
c.1764C>T (p.Ala588=)
c.1623C>T (p.Ala541=)
c.1608C>T (p.Ala536=)
c.1467C>T (p.Ala489=)
c.1278C>T (p.Ala426=)
c.1263C>T (p.Ala421=)
c.768C>T (p.Ala256=)
c.579C>T (p.Ala193=)
10g.86716656T>ACA377451304LDB3n.515-2071T>A
c.1372T>A (p.Tyr458Asn)
c.1420T>A (p.Tyr474Asn)
c.1561T>A (p.Tyr521Asn)
c.1231T>A (p.Tyr411Asn)
c.1576T>A (p.Tyr526Asn)
c.1813T>A (p.Tyr605Asn)
c.1765T>A (p.Tyr589Asn)
c.1624T>A (p.Tyr542Asn)
c.1609T>A (p.Tyr537Asn)
c.1468T>A (p.Tyr490Asn)
c.1279T>A (p.Tyr427Asn)
c.1264T>A (p.Tyr422Asn)
c.769T>A (p.Tyr257Asn)
c.580T>A (p.Tyr194Asn)
10g.86716656T>CCA211205557LDB3n.515-2071T>C
c.1372T>C (p.Tyr458His)
c.1420T>C (p.Tyr474His)
c.1561T>C (p.Tyr521His)
c.1231T>C (p.Tyr411His)
c.1576T>C (p.Tyr526His)
c.1813T>C (p.Tyr605His)
c.1765T>C (p.Tyr589His)
c.1624T>C (p.Tyr542His)
c.1609T>C (p.Tyr537His)
c.1468T>C (p.Tyr490His)
c.1279T>C (p.Tyr427His)
c.1264T>C (p.Tyr422His)
c.769T>C (p.Tyr257His)
c.580T>C (p.Tyr194His)
 dbSNP
10g.86716656T>GCA377451306LDB3n.515-2071T>G
c.1372T>G (p.Tyr458Asp)
c.1420T>G (p.Tyr474Asp)
c.1561T>G (p.Tyr521Asp)
c.1231T>G (p.Tyr411Asp)
c.1576T>G (p.Tyr526Asp)
c.1813T>G (p.Tyr605Asp)
c.1765T>G (p.Tyr589Asp)
c.1624T>G (p.Tyr542Asp)
c.1609T>G (p.Tyr537Asp)
c.1468T>G (p.Tyr490Asp)
c.1279T>G (p.Tyr427Asp)
c.1264T>G (p.Tyr422Asp)
c.769T>G (p.Tyr257Asp)
c.580T>G (p.Tyr194Asp)
10g.86716656T=CA1925631978LDB3n.515-2071T=
c.1372T= (p.Tyr458=)
c.1420T= (p.Tyr474=)
c.1561T= (p.Tyr521=)
c.1231T= (p.Tyr411=)
c.1576T= (p.Tyr526=)
c.1813T= (p.Tyr605=)
c.1765T= (p.Tyr589=)
c.1624T= (p.Tyr542=)
c.1609T= (p.Tyr537=)
c.1468T= (p.Tyr490=)
c.1279T= (p.Tyr427=)
c.1264T= (p.Tyr422=)
c.769T= (p.Tyr257=)
c.580T= (p.Tyr194=)
10g.86716657A=CA1925631979LDB3n.515-2070A=
c.1373A= (p.Tyr458=)
c.1421A= (p.Tyr474=)
c.1562A= (p.Tyr521=)
c.1232A= (p.Tyr411=)
c.1577A= (p.Tyr526=)
c.1814A= (p.Tyr605=)
c.1766A= (p.Tyr589=)
c.1625A= (p.Tyr542=)
c.1610A= (p.Tyr537=)
c.1469A= (p.Tyr490=)
c.1280A= (p.Tyr427=)
c.1265A= (p.Tyr422=)
c.770A= (p.Tyr257=)
c.581A= (p.Tyr194=)
10g.86716657A>CCA377451307LDB3n.515-2070A>C
c.1373A>C (p.Tyr458Ser)
c.1421A>C (p.Tyr474Ser)
c.1562A>C (p.Tyr521Ser)
c.1232A>C (p.Tyr411Ser)
c.1577A>C (p.Tyr526Ser)
c.1814A>C (p.Tyr605Ser)
c.1766A>C (p.Tyr589Ser)
c.1625A>C (p.Tyr542Ser)
c.1610A>C (p.Tyr537Ser)
c.1469A>C (p.Tyr490Ser)
c.1280A>C (p.Tyr427Ser)
c.1265A>C (p.Tyr422Ser)
c.770A>C (p.Tyr257Ser)
c.581A>C (p.Tyr194Ser)
10g.86716657A>GCA5585186LDB3n.515-2070A>G
c.1373A>G (p.Tyr458Cys)
c.1421A>G (p.Tyr474Cys)
c.1562A>G (p.Tyr521Cys)
c.1232A>G (p.Tyr411Cys)
c.1577A>G (p.Tyr526Cys)
c.1814A>G (p.Tyr605Cys)
c.1766A>G (p.Tyr589Cys)
c.1625A>G (p.Tyr542Cys)
c.1610A>G (p.Tyr537Cys)
c.1469A>G (p.Tyr490Cys)
c.1280A>G (p.Tyr427Cys)
c.1265A>G (p.Tyr422Cys)
c.770A>G (p.Tyr257Cys)
c.581A>G (p.Tyr194Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716657A>TCA377451310LDB3n.515-2070A>T
c.1373A>T (p.Tyr458Phe)
c.1421A>T (p.Tyr474Phe)
c.1562A>T (p.Tyr521Phe)
c.1232A>T (p.Tyr411Phe)
c.1577A>T (p.Tyr526Phe)
c.1814A>T (p.Tyr605Phe)
c.1766A>T (p.Tyr589Phe)
c.1625A>T (p.Tyr542Phe)
c.1610A>T (p.Tyr537Phe)
c.1469A>T (p.Tyr490Phe)
c.1280A>T (p.Tyr427Phe)
c.1265A>T (p.Tyr422Phe)
c.770A>T (p.Tyr257Phe)
c.581A>T (p.Tyr194Phe)
10g.86716658C>ACA377451312LDB3n.515-2069C>A
c.1374C>A (p.Tyr458Ter)
c.1422C>A (p.Tyr474Ter)
c.1563C>A (p.Tyr521Ter)
c.1233C>A (p.Tyr411Ter)
c.1578C>A (p.Tyr526Ter)
c.1815C>A (p.Tyr605Ter)
c.1767C>A (p.Tyr589Ter)
c.1626C>A (p.Tyr542Ter)
c.1611C>A (p.Tyr537Ter)
c.1470C>A (p.Tyr490Ter)
c.1281C>A (p.Tyr427Ter)
c.1266C>A (p.Tyr422Ter)
c.771C>A (p.Tyr257Ter)
c.582C>A (p.Tyr194Ter)
10g.86716658C=CA1925631980LDB3n.515-2069C=
c.1374C= (p.Tyr458=)
c.1422C= (p.Tyr474=)
c.1563C= (p.Tyr521=)
c.1233C= (p.Tyr411=)
c.1578C= (p.Tyr526=)
c.1815C= (p.Tyr605=)
c.1767C= (p.Tyr589=)
c.1626C= (p.Tyr542=)
c.1611C= (p.Tyr537=)
c.1470C= (p.Tyr490=)
c.1281C= (p.Tyr427=)
c.1266C= (p.Tyr422=)
c.771C= (p.Tyr257=)
c.582C= (p.Tyr194=)
10g.86716658C>GCA377451314LDB3n.515-2069C>G
c.1374C>G (p.Tyr458Ter)
c.1422C>G (p.Tyr474Ter)
c.1563C>G (p.Tyr521Ter)
c.1233C>G (p.Tyr411Ter)
c.1578C>G (p.Tyr526Ter)
c.1815C>G (p.Tyr605Ter)
c.1767C>G (p.Tyr589Ter)
c.1626C>G (p.Tyr542Ter)
c.1611C>G (p.Tyr537Ter)
c.1470C>G (p.Tyr490Ter)
c.1281C>G (p.Tyr427Ter)
c.1266C>G (p.Tyr422Ter)
c.771C>G (p.Tyr257Ter)
c.582C>G (p.Tyr194Ter)
10g.86716658C>TCA470376082LDB3n.515-2069C>T
c.1374C>T (p.Tyr458=)
c.1422C>T (p.Tyr474=)
c.1563C>T (p.Tyr521=)
c.1233C>T (p.Tyr411=)
c.1578C>T (p.Tyr526=)
c.1815C>T (p.Tyr605=)
c.1767C>T (p.Tyr589=)
c.1626C>T (p.Tyr542=)
c.1611C>T (p.Tyr537=)
c.1470C>T (p.Tyr490=)
c.1281C>T (p.Tyr427=)
c.1266C>T (p.Tyr422=)
c.771C>T (p.Tyr257=)
c.582C>T (p.Tyr194=)
 ClinVar dbSNP gnomAD v4
10g.86716659A>CCA377451316LDB3n.515-2068A>C
c.1375A>C (p.Thr459Pro)
c.1423A>C (p.Thr475Pro)
c.1564A>C (p.Thr522Pro)
c.1234A>C (p.Thr412Pro)
c.1579A>C (p.Thr527Pro)
c.1816A>C (p.Thr606Pro)
c.1768A>C (p.Thr590Pro)
c.1627A>C (p.Thr543Pro)
c.1612A>C (p.Thr538Pro)
c.1471A>C (p.Thr491Pro)
c.1282A>C (p.Thr428Pro)
c.1267A>C (p.Thr423Pro)
c.772A>C (p.Thr258Pro)
c.583A>C (p.Thr195Pro)
10g.86716659A>GCA377451320LDB3n.515-2068A>G
c.1375A>G (p.Thr459Ala)
c.1423A>G (p.Thr475Ala)
c.1564A>G (p.Thr522Ala)
c.1234A>G (p.Thr412Ala)
c.1579A>G (p.Thr527Ala)
c.1816A>G (p.Thr606Ala)
c.1768A>G (p.Thr590Ala)
c.1627A>G (p.Thr543Ala)
c.1612A>G (p.Thr538Ala)
c.1471A>G (p.Thr491Ala)
c.1282A>G (p.Thr428Ala)
c.1267A>G (p.Thr423Ala)
c.772A>G (p.Thr258Ala)
c.583A>G (p.Thr195Ala)
10g.86716659A>TCA377451318LDB3n.515-2068A>T
c.1375A>T (p.Thr459Ser)
c.1423A>T (p.Thr475Ser)
c.1564A>T (p.Thr522Ser)
c.1234A>T (p.Thr412Ser)
c.1579A>T (p.Thr527Ser)
c.1816A>T (p.Thr606Ser)
c.1768A>T (p.Thr590Ser)
c.1627A>T (p.Thr543Ser)
c.1612A>T (p.Thr538Ser)
c.1471A>T (p.Thr491Ser)
c.1282A>T (p.Thr428Ser)
c.1267A>T (p.Thr423Ser)
c.772A>T (p.Thr258Ser)
c.583A>T (p.Thr195Ser)
10g.86716660C>ACA377451322LDB3n.515-2067C>A
c.1376C>A (p.Thr459Asn)
c.1424C>A (p.Thr475Asn)
c.1565C>A (p.Thr522Asn)
c.1235C>A (p.Thr412Asn)
c.1580C>A (p.Thr527Asn)
c.1817C>A (p.Thr606Asn)
c.1769C>A (p.Thr590Asn)
c.1628C>A (p.Thr543Asn)
c.1613C>A (p.Thr538Asn)
c.1472C>A (p.Thr491Asn)
c.1283C>A (p.Thr428Asn)
c.1268C>A (p.Thr423Asn)
c.773C>A (p.Thr258Asn)
c.584C>A (p.Thr195Asn)
 ClinVar dbSNP gnomAD v4
10g.86716660C=CA1925631981LDB3n.515-2067C=
c.1376C= (p.Thr459=)
c.1424C= (p.Thr475=)
c.1565C= (p.Thr522=)
c.1235C= (p.Thr412=)
c.1580C= (p.Thr527=)
c.1817C= (p.Thr606=)
c.1769C= (p.Thr590=)
c.1628C= (p.Thr543=)
c.1613C= (p.Thr538=)
c.1472C= (p.Thr491=)
c.1283C= (p.Thr428=)
c.1268C= (p.Thr423=)
c.773C= (p.Thr258=)
c.584C= (p.Thr195=)
10g.86716660C>GCA377451324LDB3n.515-2067C>G
c.1376C>G (p.Thr459Ser)
c.1424C>G (p.Thr475Ser)
c.1565C>G (p.Thr522Ser)
c.1235C>G (p.Thr412Ser)
c.1580C>G (p.Thr527Ser)
c.1817C>G (p.Thr606Ser)
c.1769C>G (p.Thr590Ser)
c.1628C>G (p.Thr543Ser)
c.1613C>G (p.Thr538Ser)
c.1472C>G (p.Thr491Ser)
c.1283C>G (p.Thr428Ser)
c.1268C>G (p.Thr423Ser)
c.773C>G (p.Thr258Ser)
c.584C>G (p.Thr195Ser)
10g.86716660C>TCA377451326LDB3n.515-2067C>T
c.1376C>T (p.Thr459Ile)
c.1424C>T (p.Thr475Ile)
c.1565C>T (p.Thr522Ile)
c.1235C>T (p.Thr412Ile)
c.1580C>T (p.Thr527Ile)
c.1817C>T (p.Thr606Ile)
c.1769C>T (p.Thr590Ile)
c.1628C>T (p.Thr543Ile)
c.1613C>T (p.Thr538Ile)
c.1472C>T (p.Thr491Ile)
c.1283C>T (p.Thr428Ile)
c.1268C>T (p.Thr423Ile)
c.773C>T (p.Thr258Ile)
c.584C>T (p.Thr195Ile)
 ClinVar dbSNP gnomAD v4
10g.86716661C>ACA470376093LDB3n.515-2066C>A
c.1377C>A (p.Thr459=)
c.1425C>A (p.Thr475=)
c.1566C>A (p.Thr522=)
c.1236C>A (p.Thr412=)
c.1581C>A (p.Thr527=)
c.1818C>A (p.Thr606=)
c.1770C>A (p.Thr590=)
c.1629C>A (p.Thr543=)
c.1614C>A (p.Thr538=)
c.1473C>A (p.Thr491=)
c.1284C>A (p.Thr428=)
c.1269C>A (p.Thr423=)
c.774C>A (p.Thr258=)
c.585C>A (p.Thr195=)
10g.86716661C=CA1925631982LDB3n.515-2066C=
c.1377C= (p.Thr459=)
c.1425C= (p.Thr475=)
c.1566C= (p.Thr522=)
c.1236C= (p.Thr412=)
c.1581C= (p.Thr527=)
c.1818C= (p.Thr606=)
c.1770C= (p.Thr590=)
c.1629C= (p.Thr543=)
c.1614C= (p.Thr538=)
c.1473C= (p.Thr491=)
c.1284C= (p.Thr428=)
c.1269C= (p.Thr423=)
c.774C= (p.Thr258=)
c.585C= (p.Thr195=)
10g.86716661C>GCA470376095LDB3n.515-2066C>G
c.1377C>G (p.Thr459=)
c.1425C>G (p.Thr475=)
c.1566C>G (p.Thr522=)
c.1236C>G (p.Thr412=)
c.1581C>G (p.Thr527=)
c.1818C>G (p.Thr606=)
c.1770C>G (p.Thr590=)
c.1629C>G (p.Thr543=)
c.1614C>G (p.Thr538=)
c.1473C>G (p.Thr491=)
c.1284C>G (p.Thr428=)
c.1269C>G (p.Thr423=)
c.774C>G (p.Thr258=)
c.585C>G (p.Thr195=)
10g.86716661C>TCA5585187LDB3n.515-2066C>T
c.1377C>T (p.Thr459=)
c.1425C>T (p.Thr475=)
c.1566C>T (p.Thr522=)
c.1236C>T (p.Thr412=)
c.1581C>T (p.Thr527=)
c.1818C>T (p.Thr606=)
c.1770C>T (p.Thr590=)
c.1629C>T (p.Thr543=)
c.1614C>T (p.Thr538=)
c.1473C>T (p.Thr491=)
c.1284C>T (p.Thr428=)
c.1269C>T (p.Thr423=)
c.774C>T (p.Thr258=)
c.585C>T (p.Thr195=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.86716662C>ACA377451330LDB3n.515-2065C>A
c.1378C>A (p.Pro460Thr)
c.1426C>A (p.Pro476Thr)
c.1567C>A (p.Pro523Thr)
c.1237C>A (p.Pro413Thr)
c.1582C>A (p.Pro528Thr)
c.1819C>A (p.Pro607Thr)
c.1771C>A (p.Pro591Thr)
c.1630C>A (p.Pro544Thr)
c.1615C>A (p.Pro539Thr)
c.1474C>A (p.Pro492Thr)
c.1285C>A (p.Pro429Thr)
c.1270C>A (p.Pro424Thr)
c.775C>A (p.Pro259Thr)
c.586C>A (p.Pro196Thr)
10g.86716662C=CA1925631983LDB3n.515-2065C=
c.1378C= (p.Pro460=)
c.1426C= (p.Pro476=)
c.1567C= (p.Pro523=)
c.1237C= (p.Pro413=)
c.1582C= (p.Pro528=)
c.1819C= (p.Pro607=)
c.1771C= (p.Pro591=)
c.1630C= (p.Pro544=)
c.1615C= (p.Pro539=)
c.1474C= (p.Pro492=)
c.1285C= (p.Pro429=)
c.1270C= (p.Pro424=)
c.775C= (p.Pro259=)
c.586C= (p.Pro196=)
10g.86716662C>GCA308636LDB3n.515-2065C>G
c.1378C>G (p.Pro460Ala)
c.1426C>G (p.Pro476Ala)
c.1567C>G (p.Pro523Ala)
c.1237C>G (p.Pro413Ala)
c.1582C>G (p.Pro528Ala)
c.1819C>G (p.Pro607Ala)
c.1771C>G (p.Pro591Ala)
c.1630C>G (p.Pro544Ala)
c.1615C>G (p.Pro539Ala)
c.1474C>G (p.Pro492Ala)
c.1285C>G (p.Pro429Ala)
c.1270C>G (p.Pro424Ala)
c.775C>G (p.Pro259Ala)
c.586C>G (p.Pro196Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.86716662C>TCA377451332LDB3n.515-2065C>T
c.1378C>T (p.Pro460Ser)
c.1426C>T (p.Pro476Ser)
c.1567C>T (p.Pro523Ser)
c.1237C>T (p.Pro413Ser)
c.1582C>T (p.Pro528Ser)
c.1819C>T (p.Pro607Ser)
c.1771C>T (p.Pro591Ser)
c.1630C>T (p.Pro544Ser)
c.1615C>T (p.Pro539Ser)
c.1474C>T (p.Pro492Ser)
c.1285C>T (p.Pro429Ser)
c.1270C>T (p.Pro424Ser)
c.775C>T (p.Pro259Ser)
c.586C>T (p.Pro196Ser)
 gnomAD v4
10g.86716663C>ACA377451334LDB3n.515-2064C>A
c.1379C>A (p.Pro460Gln)
c.1427C>A (p.Pro476Gln)
c.1568C>A (p.Pro523Gln)
c.1238C>A (p.Pro413Gln)
c.1583C>A (p.Pro528Gln)
c.1820C>A (p.Pro607Gln)
c.1772C>A (p.Pro591Gln)
c.1631C>A (p.Pro544Gln)
c.1616C>A (p.Pro539Gln)
c.1475C>A (p.Pro492Gln)
c.1286C>A (p.Pro429Gln)
c.1271C>A (p.Pro424Gln)
c.776C>A (p.Pro259Gln)
c.587C>A (p.Pro196Gln)
10g.86716663C>GCA377451336LDB3n.515-2064C>G
c.1379C>G (p.Pro460Arg)
c.1427C>G (p.Pro476Arg)
c.1568C>G (p.Pro523Arg)
c.1238C>G (p.Pro413Arg)
c.1583C>G (p.Pro528Arg)
c.1820C>G (p.Pro607Arg)
c.1772C>G (p.Pro591Arg)
c.1631C>G (p.Pro544Arg)
c.1616C>G (p.Pro539Arg)
c.1475C>G (p.Pro492Arg)
c.1286C>G (p.Pro429Arg)
c.1271C>G (p.Pro424Arg)
c.776C>G (p.Pro259Arg)
c.587C>G (p.Pro196Arg)
10g.86716663C>TCA377451338LDB3n.515-2064C>T
c.1379C>T (p.Pro460Leu)
c.1427C>T (p.Pro476Leu)
c.1568C>T (p.Pro523Leu)
c.1238C>T (p.Pro413Leu)
c.1583C>T (p.Pro528Leu)
c.1820C>T (p.Pro607Leu)
c.1772C>T (p.Pro591Leu)
c.1631C>T (p.Pro544Leu)
c.1616C>T (p.Pro539Leu)
c.1475C>T (p.Pro492Leu)
c.1286C>T (p.Pro429Leu)
c.1271C>T (p.Pro424Leu)
c.776C>T (p.Pro259Leu)
c.587C>T (p.Pro196Leu)
10g.86716664A=CA1925631984LDB3n.515-2063A=
c.1380A= (p.Pro460=)
c.1428A= (p.Pro476=)
c.1569A= (p.Pro523=)
c.1239A= (p.Pro413=)
c.1584A= (p.Pro528=)
c.1821A= (p.Pro607=)
c.1773A= (p.Pro591=)
c.1632A= (p.Pro544=)
c.1617A= (p.Pro539=)
c.1476A= (p.Pro492=)
c.1287A= (p.Pro429=)
c.1272A= (p.Pro424=)
c.777A= (p.Pro259=)
c.588A= (p.Pro196=)
10g.86716664A>CCA470376114LDB3n.515-2063A>C
c.1380A>C (p.Pro460=)
c.1428A>C (p.Pro476=)
c.1569A>C (p.Pro523=)
c.1239A>C (p.Pro413=)
c.1584A>C (p.Pro528=)
c.1821A>C (p.Pro607=)
c.1773A>C (p.Pro591=)
c.1632A>C (p.Pro544=)
c.1617A>C (p.Pro539=)
c.1476A>C (p.Pro492=)
c.1287A>C (p.Pro429=)
c.1272A>C (p.Pro424=)
c.777A>C (p.Pro259=)
c.588A>C (p.Pro196=)
10g.86716664A>GCA5585188LDB3n.515-2063A>G
c.1380A>G (p.Pro460=)
c.1428A>G (p.Pro476=)
c.1569A>G (p.Pro523=)
c.1239A>G (p.Pro413=)
c.1584A>G (p.Pro528=)
c.1821A>G (p.Pro607=)
c.1773A>G (p.Pro591=)
c.1632A>G (p.Pro544=)
c.1617A>G (p.Pro539=)
c.1476A>G (p.Pro492=)
c.1287A>G (p.Pro429=)
c.1272A>G (p.Pro424=)
c.777A>G (p.Pro259=)
c.588A>G (p.Pro196=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716664A>TCA470376119LDB3n.515-2063A>T
c.1380A>T (p.Pro460=)
c.1428A>T (p.Pro476=)
c.1569A>T (p.Pro523=)
c.1239A>T (p.Pro413=)
c.1584A>T (p.Pro528=)
c.1821A>T (p.Pro607=)
c.1773A>T (p.Pro591=)
c.1632A>T (p.Pro544=)
c.1617A>T (p.Pro539=)
c.1476A>T (p.Pro492=)
c.1287A>T (p.Pro429=)
c.1272A>T (p.Pro424=)
c.777A>T (p.Pro259=)
c.588A>T (p.Pro196=)
10g.86716665G>ACA377451341LDB3n.515-2062G>A
c.1381G>A (p.Ala461Thr)
c.1429G>A (p.Ala477Thr)
c.1570G>A (p.Ala524Thr)
c.1240G>A (p.Ala414Thr)
c.1585G>A (p.Ala529Thr)
c.1822G>A (p.Ala608Thr)
c.1774G>A (p.Ala592Thr)
c.1633G>A (p.Ala545Thr)
c.1618G>A (p.Ala540Thr)
c.1477G>A (p.Ala493Thr)
c.1288G>A (p.Ala430Thr)
c.1273G>A (p.Ala425Thr)
c.778G>A (p.Ala260Thr)
c.589G>A (p.Ala197Thr)
 ClinVar dbSNP gnomAD v4
10g.86716665G>CCA377451343LDB3n.515-2062G>C
c.1381G>C (p.Ala461Pro)
c.1429G>C (p.Ala477Pro)
c.1570G>C (p.Ala524Pro)
c.1240G>C (p.Ala414Pro)
c.1585G>C (p.Ala529Pro)
c.1822G>C (p.Ala608Pro)
c.1774G>C (p.Ala592Pro)
c.1633G>C (p.Ala545Pro)
c.1618G>C (p.Ala540Pro)
c.1477G>C (p.Ala493Pro)
c.1288G>C (p.Ala430Pro)
c.1273G>C (p.Ala425Pro)
c.778G>C (p.Ala260Pro)
c.589G>C (p.Ala197Pro)
10g.86716665G=CA1925631985LDB3n.515-2062G=
c.1381G= (p.Ala461=)
c.1429G= (p.Ala477=)
c.1570G= (p.Ala524=)
c.1240G= (p.Ala414=)
c.1585G= (p.Ala529=)
c.1822G= (p.Ala608=)
c.1774G= (p.Ala592=)
c.1633G= (p.Ala545=)
c.1618G= (p.Ala540=)
c.1477G= (p.Ala493=)
c.1288G= (p.Ala430=)
c.1273G= (p.Ala425=)
c.778G= (p.Ala260=)
c.589G= (p.Ala197=)
10g.86716665G>TCA377451345LDB3n.515-2062G>T
c.1381G>T (p.Ala461Ser)
c.1429G>T (p.Ala477Ser)
c.1570G>T (p.Ala524Ser)
c.1240G>T (p.Ala414Ser)
c.1585G>T (p.Ala529Ser)
c.1822G>T (p.Ala608Ser)
c.1774G>T (p.Ala592Ser)
c.1633G>T (p.Ala545Ser)
c.1618G>T (p.Ala540Ser)
c.1477G>T (p.Ala493Ser)
c.1288G>T (p.Ala430Ser)
c.1273G>T (p.Ala425Ser)
c.778G>T (p.Ala260Ser)
c.589G>T (p.Ala197Ser)
 gnomAD v4
10g.86716666C>ACA377451347LDB3n.515-2061C>A
c.1382C>A (p.Ala461Glu)
c.1430C>A (p.Ala477Glu)
c.1571C>A (p.Ala524Glu)
c.1241C>A (p.Ala414Glu)
c.1586C>A (p.Ala529Glu)
c.1823C>A (p.Ala608Glu)
c.1775C>A (p.Ala592Glu)
c.1634C>A (p.Ala545Glu)
c.1619C>A (p.Ala540Glu)
c.1478C>A (p.Ala493Glu)
c.1289C>A (p.Ala430Glu)
c.1274C>A (p.Ala425Glu)
c.779C>A (p.Ala260Glu)
c.590C>A (p.Ala197Glu)
 gnomAD v4
10g.86716666C=CA1925631986LDB3n.515-2061C=
c.1382C= (p.Ala461=)
c.1430C= (p.Ala477=)
c.1571C= (p.Ala524=)
c.1241C= (p.Ala414=)
c.1586C= (p.Ala529=)
c.1823C= (p.Ala608=)
c.1775C= (p.Ala592=)
c.1634C= (p.Ala545=)
c.1619C= (p.Ala540=)
c.1478C= (p.Ala493=)
c.1289C= (p.Ala430=)
c.1274C= (p.Ala425=)
c.779C= (p.Ala260=)
c.590C= (p.Ala197=)
10g.86716666C>GCA377451348LDB3n.515-2061C>G
c.1382C>G (p.Ala461Gly)
c.1430C>G (p.Ala477Gly)
c.1571C>G (p.Ala524Gly)
c.1241C>G (p.Ala414Gly)
c.1586C>G (p.Ala529Gly)
c.1823C>G (p.Ala608Gly)
c.1775C>G (p.Ala592Gly)
c.1634C>G (p.Ala545Gly)
c.1619C>G (p.Ala540Gly)
c.1478C>G (p.Ala493Gly)
c.1289C>G (p.Ala430Gly)
c.1274C>G (p.Ala425Gly)
c.779C>G (p.Ala260Gly)
c.590C>G (p.Ala197Gly)
10g.86716666C>TCA377451350LDB3n.515-2061C>T
c.1382C>T (p.Ala461Val)
c.1430C>T (p.Ala477Val)
c.1571C>T (p.Ala524Val)
c.1241C>T (p.Ala414Val)
c.1586C>T (p.Ala529Val)
c.1823C>T (p.Ala608Val)
c.1775C>T (p.Ala592Val)
c.1634C>T (p.Ala545Val)
c.1619C>T (p.Ala540Val)
c.1478C>T (p.Ala493Val)
c.1289C>T (p.Ala430Val)
c.1274C>T (p.Ala425Val)
c.779C>T (p.Ala260Val)
c.590C>T (p.Ala197Val)
 dbSNP gnomAD v4
10g.86716667G>ACA136543LDB3n.515-2060G>A
c.1383G>A (p.Ala461=)
c.1431G>A (p.Ala477=)
c.1572G>A (p.Ala524=)
c.1242G>A (p.Ala414=)
c.1587G>A (p.Ala529=)
c.1824G>A (p.Ala608=)
c.1776G>A (p.Ala592=)
c.1635G>A (p.Ala545=)
c.1620G>A (p.Ala540=)
c.1479G>A (p.Ala493=)
c.1290G>A (p.Ala430=)
c.1275G>A (p.Ala425=)
c.780G>A (p.Ala260=)
c.591G>A (p.Ala197=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716667G>CCA470376138LDB3n.515-2060G>C
c.1383G>C (p.Ala461=)
c.1431G>C (p.Ala477=)
c.1572G>C (p.Ala524=)
c.1242G>C (p.Ala414=)
c.1587G>C (p.Ala529=)
c.1824G>C (p.Ala608=)
c.1776G>C (p.Ala592=)
c.1635G>C (p.Ala545=)
c.1620G>C (p.Ala540=)
c.1479G>C (p.Ala493=)
c.1290G>C (p.Ala430=)
c.1275G>C (p.Ala425=)
c.780G>C (p.Ala260=)
c.591G>C (p.Ala197=)
10g.86716667G=CA1925631987LDB3n.515-2060G=
c.1383G= (p.Ala461=)
c.1431G= (p.Ala477=)
c.1572G= (p.Ala524=)
c.1242G= (p.Ala414=)
c.1587G= (p.Ala529=)
c.1824G= (p.Ala608=)
c.1776G= (p.Ala592=)
c.1635G= (p.Ala545=)
c.1620G= (p.Ala540=)
c.1479G= (p.Ala493=)
c.1290G= (p.Ala430=)
c.1275G= (p.Ala425=)
c.780G= (p.Ala260=)
c.591G= (p.Ala197=)
10g.86716667G>TCA470376136LDB3n.515-2060G>T
c.1383G>T (p.Ala461=)
c.1431G>T (p.Ala477=)
c.1572G>T (p.Ala524=)
c.1242G>T (p.Ala414=)
c.1587G>T (p.Ala529=)
c.1824G>T (p.Ala608=)
c.1776G>T (p.Ala592=)
c.1635G>T (p.Ala545=)
c.1620G>T (p.Ala540=)
c.1479G>T (p.Ala493=)
c.1290G>T (p.Ala430=)
c.1275G>T (p.Ala425=)
c.780G>T (p.Ala260=)
c.591G>T (p.Ala197=)
 dbSNP gnomAD v2 gnomAD v4
10g.86716668G>ACA377451353LDB3n.515-2059G>A
c.1384G>A (p.Gly462Ser)
c.1432G>A (p.Gly478Ser)
c.1573G>A (p.Gly525Ser)
c.1243G>A (p.Gly415Ser)
c.1588G>A (p.Gly530Ser)
c.1825G>A (p.Gly609Ser)
c.1777G>A (p.Gly593Ser)
c.1636G>A (p.Gly546Ser)
c.1621G>A (p.Gly541Ser)
c.1480G>A (p.Gly494Ser)
c.1291G>A (p.Gly431Ser)
c.1276G>A (p.Gly426Ser)
c.781G>A (p.Gly261Ser)
c.592G>A (p.Gly198Ser)
10g.86716668G>CCA308639LDB3n.515-2059G>C
c.1384G>C (p.Gly462Arg)
c.1432G>C (p.Gly478Arg)
c.1573G>C (p.Gly525Arg)
c.1243G>C (p.Gly415Arg)
c.1588G>C (p.Gly530Arg)
c.1825G>C (p.Gly609Arg)
c.1777G>C (p.Gly593Arg)
c.1636G>C (p.Gly546Arg)
c.1621G>C (p.Gly541Arg)
c.1480G>C (p.Gly494Arg)
c.1291G>C (p.Gly431Arg)
c.1276G>C (p.Gly426Arg)
c.781G>C (p.Gly261Arg)
c.592G>C (p.Gly198Arg)
 ClinVar dbSNP
10g.86716668G=CA1925631988LDB3n.515-2059G=
c.1384G= (p.Gly462=)
c.1432G= (p.Gly478=)
c.1573G= (p.Gly525=)
c.1243G= (p.Gly415=)
c.1588G= (p.Gly530=)
c.1825G= (p.Gly609=)
c.1777G= (p.Gly593=)
c.1636G= (p.Gly546=)
c.1621G= (p.Gly541=)
c.1480G= (p.Gly494=)
c.1291G= (p.Gly431=)
c.1276G= (p.Gly426=)
c.781G= (p.Gly261=)
c.592G= (p.Gly198=)
10g.86716668G>TCA377451355LDB3n.515-2059G>T
c.1384G>T (p.Gly462Cys)
c.1432G>T (p.Gly478Cys)
c.1573G>T (p.Gly525Cys)
c.1243G>T (p.Gly415Cys)
c.1588G>T (p.Gly530Cys)
c.1825G>T (p.Gly609Cys)
c.1777G>T (p.Gly593Cys)
c.1636G>T (p.Gly546Cys)
c.1621G>T (p.Gly541Cys)
c.1480G>T (p.Gly494Cys)
c.1291G>T (p.Gly431Cys)
c.1276G>T (p.Gly426Cys)
c.781G>T (p.Gly261Cys)
c.592G>T (p.Gly198Cys)
 dbSNP gnomAD v2 gnomAD v4
10g.86716669G>ACA377451356LDB3n.515-2058G>A
c.1385G>A (p.Gly462Asp)
c.1433G>A (p.Gly478Asp)
c.1574G>A (p.Gly525Asp)
c.1244G>A (p.Gly415Asp)
c.1589G>A (p.Gly530Asp)
c.1826G>A (p.Gly609Asp)
c.1778G>A (p.Gly593Asp)
c.1637G>A (p.Gly546Asp)
c.1622G>A (p.Gly541Asp)
c.1481G>A (p.Gly494Asp)
c.1292G>A (p.Gly431Asp)
c.1277G>A (p.Gly426Asp)
c.782G>A (p.Gly261Asp)
c.593G>A (p.Gly198Asp)
 gnomAD v4 COSMIC COSMIC
10g.86716669G>CCA377451358LDB3n.515-2058G>C
c.1385G>C (p.Gly462Ala)
c.1433G>C (p.Gly478Ala)
c.1574G>C (p.Gly525Ala)
c.1244G>C (p.Gly415Ala)
c.1589G>C (p.Gly530Ala)
c.1826G>C (p.Gly609Ala)
c.1778G>C (p.Gly593Ala)
c.1637G>C (p.Gly546Ala)
c.1622G>C (p.Gly541Ala)
c.1481G>C (p.Gly494Ala)
c.1292G>C (p.Gly431Ala)
c.1277G>C (p.Gly426Ala)
c.782G>C (p.Gly261Ala)
c.593G>C (p.Gly198Ala)
 ClinVar
10g.86716669G>TCA377451360LDB3n.515-2058G>T
c.1385G>T (p.Gly462Val)
c.1433G>T (p.Gly478Val)
c.1574G>T (p.Gly525Val)
c.1244G>T (p.Gly415Val)
c.1589G>T (p.Gly530Val)
c.1826G>T (p.Gly609Val)
c.1778G>T (p.Gly593Val)
c.1637G>T (p.Gly546Val)
c.1622G>T (p.Gly541Val)
c.1481G>T (p.Gly494Val)
c.1292G>T (p.Gly431Val)
c.1277G>T (p.Gly426Val)
c.782G>T (p.Gly261Val)
c.593G>T (p.Gly198Val)
10g.86716670T>ACA470376151LDB3n.515-2057T>A
c.1386T>A (p.Gly462=)
c.1434T>A (p.Gly478=)
c.1575T>A (p.Gly525=)
c.1245T>A (p.Gly415=)
c.1590T>A (p.Gly530=)
c.1827T>A (p.Gly609=)
c.1779T>A (p.Gly593=)
c.1638T>A (p.Gly546=)
c.1623T>A (p.Gly541=)
c.1482T>A (p.Gly494=)
c.1293T>A (p.Gly431=)
c.1278T>A (p.Gly426=)
c.783T>A (p.Gly261=)
c.594T>A (p.Gly198=)
10g.86716670T>CCA470376153LDB3n.515-2057T>C
c.1386T>C (p.Gly462=)
c.1434T>C (p.Gly478=)
c.1575T>C (p.Gly525=)
c.1245T>C (p.Gly415=)
c.1590T>C (p.Gly530=)
c.1827T>C (p.Gly609=)
c.1779T>C (p.Gly593=)
c.1638T>C (p.Gly546=)
c.1623T>C (p.Gly541=)
c.1482T>C (p.Gly494=)
c.1293T>C (p.Gly431=)
c.1278T>C (p.Gly426=)
c.783T>C (p.Gly261=)
c.594T>C (p.Gly198=)
 ClinVar gnomAD v4
10g.86716670T>GCA470376156LDB3n.515-2057T>G
c.1386T>G (p.Gly462=)
c.1434T>G (p.Gly478=)
c.1575T>G (p.Gly525=)
c.1245T>G (p.Gly415=)
c.1590T>G (p.Gly530=)
c.1827T>G (p.Gly609=)
c.1779T>G (p.Gly593=)
c.1638T>G (p.Gly546=)
c.1623T>G (p.Gly541=)
c.1482T>G (p.Gly494=)
c.1293T>G (p.Gly431=)
c.1278T>G (p.Gly426=)
c.783T>G (p.Gly261=)
c.594T>G (p.Gly198=)
10g.86716671C>ACA377451363LDB3n.515-2056C>A
c.1387C>A (p.Pro463Thr)
c.1435C>A (p.Pro479Thr)
c.1576C>A (p.Pro526Thr)
c.1246C>A (p.Pro416Thr)
c.1591C>A (p.Pro531Thr)
c.1828C>A (p.Pro610Thr)
c.1780C>A (p.Pro594Thr)
c.1639C>A (p.Pro547Thr)
c.1624C>A (p.Pro542Thr)
c.1483C>A (p.Pro495Thr)
c.1294C>A (p.Pro432Thr)
c.1279C>A (p.Pro427Thr)
c.784C>A (p.Pro262Thr)
c.595C>A (p.Pro199Thr)
10g.86716671C=CA1925631989LDB3n.515-2056C=
c.1387C= (p.Pro463=)
c.1435C= (p.Pro479=)
c.1576C= (p.Pro526=)
c.1246C= (p.Pro416=)
c.1591C= (p.Pro531=)
c.1828C= (p.Pro610=)
c.1780C= (p.Pro594=)
c.1639C= (p.Pro547=)
c.1624C= (p.Pro542=)
c.1483C= (p.Pro495=)
c.1294C= (p.Pro432=)
c.1279C= (p.Pro427=)
c.784C= (p.Pro262=)
c.595C= (p.Pro199=)
10g.86716671C>GCA377451365LDB3n.515-2056C>G
c.1387C>G (p.Pro463Ala)
c.1435C>G (p.Pro479Ala)
c.1576C>G (p.Pro526Ala)
c.1246C>G (p.Pro416Ala)
c.1591C>G (p.Pro531Ala)
c.1828C>G (p.Pro610Ala)
c.1780C>G (p.Pro594Ala)
c.1639C>G (p.Pro547Ala)
c.1624C>G (p.Pro542Ala)
c.1483C>G (p.Pro495Ala)
c.1294C>G (p.Pro432Ala)
c.1279C>G (p.Pro427Ala)
c.784C>G (p.Pro262Ala)
c.595C>G (p.Pro199Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.86716671C>TCA377451368LDB3n.515-2056C>T
c.1387C>T (p.Pro463Ser)
c.1435C>T (p.Pro479Ser)
c.1576C>T (p.Pro526Ser)
c.1246C>T (p.Pro416Ser)
c.1591C>T (p.Pro531Ser)
c.1828C>T (p.Pro610Ser)
c.1780C>T (p.Pro594Ser)
c.1639C>T (p.Pro547Ser)
c.1624C>T (p.Pro542Ser)
c.1483C>T (p.Pro495Ser)
c.1294C>T (p.Pro432Ser)
c.1279C>T (p.Pro427Ser)
c.784C>T (p.Pro262Ser)
c.595C>T (p.Pro199Ser)
10g.86716672C>ACA377451371LDB3n.515-2055C>A
c.1388C>A (p.Pro463His)
c.1436C>A (p.Pro479His)
c.1577C>A (p.Pro526His)
c.1247C>A (p.Pro416His)
c.1592C>A (p.Pro531His)
c.1829C>A (p.Pro610His)
c.1781C>A (p.Pro594His)
c.1640C>A (p.Pro547His)
c.1625C>A (p.Pro542His)
c.1484C>A (p.Pro495His)
c.1295C>A (p.Pro432His)
c.1280C>A (p.Pro427His)
c.785C>A (p.Pro262His)
c.596C>A (p.Pro199His)
10g.86716672C>GCA377451373LDB3n.515-2055C>G
c.1388C>G (p.Pro463Arg)
c.1436C>G (p.Pro479Arg)
c.1577C>G (p.Pro526Arg)
c.1247C>G (p.Pro416Arg)
c.1592C>G (p.Pro531Arg)
c.1829C>G (p.Pro610Arg)
c.1781C>G (p.Pro594Arg)
c.1640C>G (p.Pro547Arg)
c.1625C>G (p.Pro542Arg)
c.1484C>G (p.Pro495Arg)
c.1295C>G (p.Pro432Arg)
c.1280C>G (p.Pro427Arg)
c.785C>G (p.Pro262Arg)
c.596C>G (p.Pro199Arg)
 gnomAD v4
10g.86716672C>TCA377451375LDB3n.515-2055C>T
c.1388C>T (p.Pro463Leu)
c.1436C>T (p.Pro479Leu)
c.1577C>T (p.Pro526Leu)
c.1247C>T (p.Pro416Leu)
c.1592C>T (p.Pro531Leu)
c.1829C>T (p.Pro610Leu)
c.1781C>T (p.Pro594Leu)
c.1640C>T (p.Pro547Leu)
c.1625C>T (p.Pro542Leu)
c.1484C>T (p.Pro495Leu)
c.1295C>T (p.Pro432Leu)
c.1280C>T (p.Pro427Leu)
c.785C>T (p.Pro262Leu)
c.596C>T (p.Pro199Leu)
 gnomAD v4
10g.86716673T>ACA470376172LDB3n.515-2054T>A
c.1389T>A (p.Pro463=)
c.1437T>A (p.Pro479=)
c.1578T>A (p.Pro526=)
c.1248T>A (p.Pro416=)
c.1593T>A (p.Pro531=)
c.1830T>A (p.Pro610=)
c.1782T>A (p.Pro594=)
c.1641T>A (p.Pro547=)
c.1626T>A (p.Pro542=)
c.1485T>A (p.Pro495=)
c.1296T>A (p.Pro432=)
c.1281T>A (p.Pro427=)
c.786T>A (p.Pro262=)
c.597T>A (p.Pro199=)
10g.86716673T>CCA470376175LDB3n.515-2054T>C
c.1389T>C (p.Pro463=)
c.1437T>C (p.Pro479=)
c.1578T>C (p.Pro526=)
c.1248T>C (p.Pro416=)
c.1593T>C (p.Pro531=)
c.1830T>C (p.Pro610=)
c.1782T>C (p.Pro594=)
c.1641T>C (p.Pro547=)
c.1626T>C (p.Pro542=)
c.1485T>C (p.Pro495=)
c.1296T>C (p.Pro432=)
c.1281T>C (p.Pro427=)
c.786T>C (p.Pro262=)
c.597T>C (p.Pro199=)
 dbSNP gnomAD v4
10g.86716673T>GCA470376174LDB3n.515-2054T>G
c.1389T>G (p.Pro463=)
c.1437T>G (p.Pro479=)
c.1578T>G (p.Pro526=)
c.1248T>G (p.Pro416=)
c.1593T>G (p.Pro531=)
c.1830T>G (p.Pro610=)
c.1782T>G (p.Pro594=)
c.1641T>G (p.Pro547=)
c.1626T>G (p.Pro542=)
c.1485T>G (p.Pro495=)
c.1296T>G (p.Pro432=)
c.1281T>G (p.Pro427=)
c.786T>G (p.Pro262=)
c.597T>G (p.Pro199=)
10g.86716674C>ACA377451377LDB3n.515-2053C>A
c.1390C>A (p.Gln464Lys)
c.1438C>A (p.Gln480Lys)
c.1579C>A (p.Gln527Lys)
c.1249C>A (p.Gln417Lys)
c.1594C>A (p.Gln532Lys)
c.1831C>A (p.Gln611Lys)
c.1783C>A (p.Gln595Lys)
c.1642C>A (p.Gln548Lys)
c.1627C>A (p.Gln543Lys)
c.1486C>A (p.Gln496Lys)
c.1297C>A (p.Gln433Lys)
c.1282C>A (p.Gln428Lys)
c.787C>A (p.Gln263Lys)
c.598C>A (p.Gln200Lys)
10g.86716674C>GCA377451379LDB3n.515-2053C>G
c.1390C>G (p.Gln464Glu)
c.1438C>G (p.Gln480Glu)
c.1579C>G (p.Gln527Glu)
c.1249C>G (p.Gln417Glu)
c.1594C>G (p.Gln532Glu)
c.1831C>G (p.Gln611Glu)
c.1783C>G (p.Gln595Glu)
c.1642C>G (p.Gln548Glu)
c.1627C>G (p.Gln543Glu)
c.1486C>G (p.Gln496Glu)
c.1297C>G (p.Gln433Glu)
c.1282C>G (p.Gln428Glu)
c.787C>G (p.Gln263Glu)
c.598C>G (p.Gln200Glu)
10g.86716674C>TCA377451387LDB3n.515-2053C>T
c.1390C>T (p.Gln464Ter)
c.1438C>T (p.Gln480Ter)
c.1579C>T (p.Gln527Ter)
c.1249C>T (p.Gln417Ter)
c.1594C>T (p.Gln532Ter)
c.1831C>T (p.Gln611Ter)
c.1783C>T (p.Gln595Ter)
c.1642C>T (p.Gln548Ter)
c.1627C>T (p.Gln543Ter)
c.1486C>T (p.Gln496Ter)
c.1297C>T (p.Gln433Ter)
c.1282C>T (p.Gln428Ter)
c.787C>T (p.Gln263Ter)
c.598C>T (p.Gln200Ter)
10g.86716675A>CCA377451394LDB3n.515-2052A>C
c.1391A>C (p.Gln464Pro)
c.1439A>C (p.Gln480Pro)
c.1580A>C (p.Gln527Pro)
c.1250A>C (p.Gln417Pro)
c.1595A>C (p.Gln532Pro)
c.1832A>C (p.Gln611Pro)
c.1784A>C (p.Gln595Pro)
c.1643A>C (p.Gln548Pro)
c.1628A>C (p.Gln543Pro)
c.1487A>C (p.Gln496Pro)
c.1298A>C (p.Gln433Pro)
c.1283A>C (p.Gln428Pro)
c.788A>C (p.Gln263Pro)
c.599A>C (p.Gln200Pro)
10g.86716675A>GCA377451389LDB3n.515-2052A>G
c.1391A>G (p.Gln464Arg)
c.1439A>G (p.Gln480Arg)
c.1580A>G (p.Gln527Arg)
c.1250A>G (p.Gln417Arg)
c.1595A>G (p.Gln532Arg)
c.1832A>G (p.Gln611Arg)
c.1784A>G (p.Gln595Arg)
c.1643A>G (p.Gln548Arg)
c.1628A>G (p.Gln543Arg)
c.1487A>G (p.Gln496Arg)
c.1298A>G (p.Gln433Arg)
c.1283A>G (p.Gln428Arg)
c.788A>G (p.Gln263Arg)
c.599A>G (p.Gln200Arg)
10g.86716675A>TCA377451391LDB3n.515-2052A>T
c.1391A>T (p.Gln464Leu)
c.1439A>T (p.Gln480Leu)
c.1580A>T (p.Gln527Leu)
c.1250A>T (p.Gln417Leu)
c.1595A>T (p.Gln532Leu)
c.1832A>T (p.Gln611Leu)
c.1784A>T (p.Gln595Leu)
c.1643A>T (p.Gln548Leu)
c.1628A>T (p.Gln543Leu)
c.1487A>T (p.Gln496Leu)
c.1298A>T (p.Gln433Leu)
c.1283A>T (p.Gln428Leu)
c.788A>T (p.Gln263Leu)
c.599A>T (p.Gln200Leu)
10g.86716676G>ACA470376192LDB3n.515-2051G>A
c.1392G>A (p.Gln464=)
c.1440G>A (p.Gln480=)
c.1581G>A (p.Gln527=)
c.1251G>A (p.Gln417=)
c.1596G>A (p.Gln532=)
c.1833G>A (p.Gln611=)
c.1785G>A (p.Gln595=)
c.1644G>A (p.Gln548=)
c.1629G>A (p.Gln543=)
c.1488G>A (p.Gln496=)
c.1299G>A (p.Gln433=)
c.1284G>A (p.Gln428=)
c.789G>A (p.Gln263=)
c.600G>A (p.Gln200=)
10g.86716676G>CCA377451396LDB3n.515-2051G>C
c.1392G>C (p.Gln464His)
c.1440G>C (p.Gln480His)
c.1581G>C (p.Gln527His)
c.1251G>C (p.Gln417His)
c.1596G>C (p.Gln532His)
c.1833G>C (p.Gln611His)
c.1785G>C (p.Gln595His)
c.1644G>C (p.Gln548His)
c.1629G>C (p.Gln543His)
c.1488G>C (p.Gln496His)
c.1299G>C (p.Gln433His)
c.1284G>C (p.Gln428His)
c.789G>C (p.Gln263His)
c.600G>C (p.Gln200His)
10g.86716676G>TCA377451398LDB3n.515-2051G>T
c.1392G>T (p.Gln464His)
c.1440G>T (p.Gln480His)
c.1581G>T (p.Gln527His)
c.1251G>T (p.Gln417His)
c.1596G>T (p.Gln532His)
c.1833G>T (p.Gln611His)
c.1785G>T (p.Gln595His)
c.1644G>T (p.Gln548His)
c.1629G>T (p.Gln543His)
c.1488G>T (p.Gln496His)
c.1299G>T (p.Gln433His)
c.1284G>T (p.Gln428His)
c.789G>T (p.Gln263His)
c.600G>T (p.Gln200His)
10g.86716677G>ACA377451399LDB3n.515-2050G>A
c.1393G>A (p.Val465Met)
c.1441G>A (p.Val481Met)
c.1582G>A (p.Val528Met)
c.1252G>A (p.Val418Met)
c.1597G>A (p.Val533Met)
c.1834G>A (p.Val612Met)
c.1786G>A (p.Val596Met)
c.1645G>A (p.Val549Met)
c.1630G>A (p.Val544Met)
c.1489G>A (p.Val497Met)
c.1300G>A (p.Val434Met)
c.1285G>A (p.Val429Met)
c.790G>A (p.Val264Met)
c.601G>A (p.Val201Met)
 dbSNP gnomAD v4
10g.86716677G>CCA377451401LDB3n.515-2050G>C
c.1393G>C (p.Val465Leu)
c.1441G>C (p.Val481Leu)
c.1582G>C (p.Val528Leu)
c.1252G>C (p.Val418Leu)
c.1597G>C (p.Val533Leu)
c.1834G>C (p.Val612Leu)
c.1786G>C (p.Val596Leu)
c.1645G>C (p.Val549Leu)
c.1630G>C (p.Val544Leu)
c.1489G>C (p.Val497Leu)
c.1300G>C (p.Val434Leu)
c.1285G>C (p.Val429Leu)
c.790G>C (p.Val264Leu)
c.601G>C (p.Val201Leu)
 gnomAD v4
10g.86716677G=CA1925631990LDB3n.515-2050G=
c.1393G= (p.Val465=)
c.1441G= (p.Val481=)
c.1582G= (p.Val528=)
c.1252G= (p.Val418=)
c.1597G= (p.Val533=)
c.1834G= (p.Val612=)
c.1786G= (p.Val596=)
c.1645G= (p.Val549=)
c.1630G= (p.Val544=)
c.1489G= (p.Val497=)
c.1300G= (p.Val434=)
c.1285G= (p.Val429=)
c.790G= (p.Val264=)
c.601G= (p.Val201=)
10g.86716677G>TCA377451406LDB3n.515-2050G>T
c.1393G>T (p.Val465Leu)
c.1441G>T (p.Val481Leu)
c.1582G>T (p.Val528Leu)
c.1252G>T (p.Val418Leu)
c.1597G>T (p.Val533Leu)
c.1834G>T (p.Val612Leu)
c.1786G>T (p.Val596Leu)
c.1645G>T (p.Val549Leu)
c.1630G>T (p.Val544Leu)
c.1489G>T (p.Val497Leu)
c.1300G>T (p.Val434Leu)
c.1285G>T (p.Val429Leu)
c.790G>T (p.Val264Leu)
c.601G>T (p.Val201Leu)
10g.86716678T>ACA377451408LDB3n.515-2049T>A
c.1394T>A (p.Val465Glu)
c.1442T>A (p.Val481Glu)
c.1583T>A (p.Val528Glu)
c.1253T>A (p.Val418Glu)
c.1598T>A (p.Val533Glu)
c.1835T>A (p.Val612Glu)
c.1787T>A (p.Val596Glu)
c.1646T>A (p.Val549Glu)
c.1631T>A (p.Val544Glu)
c.1490T>A (p.Val497Glu)
c.1301T>A (p.Val434Glu)
c.1286T>A (p.Val429Glu)
c.791T>A (p.Val264Glu)
c.602T>A (p.Val201Glu)
10g.86716678T>CCA377451410LDB3n.515-2049T>C
c.1394T>C (p.Val465Ala)
c.1442T>C (p.Val481Ala)
c.1583T>C (p.Val528Ala)
c.1253T>C (p.Val418Ala)
c.1598T>C (p.Val533Ala)
c.1835T>C (p.Val612Ala)
c.1787T>C (p.Val596Ala)
c.1646T>C (p.Val549Ala)
c.1631T>C (p.Val544Ala)
c.1490T>C (p.Val497Ala)
c.1301T>C (p.Val434Ala)
c.1286T>C (p.Val429Ala)
c.791T>C (p.Val264Ala)
c.602T>C (p.Val201Ala)
10g.86716678T>GCA377451412LDB3n.515-2049T>G
c.1394T>G (p.Val465Gly)
c.1442T>G (p.Val481Gly)
c.1583T>G (p.Val528Gly)
c.1253T>G (p.Val418Gly)
c.1598T>G (p.Val533Gly)
c.1835T>G (p.Val612Gly)
c.1787T>G (p.Val596Gly)
c.1646T>G (p.Val549Gly)
c.1631T>G (p.Val544Gly)
c.1490T>G (p.Val497Gly)
c.1301T>G (p.Val434Gly)
c.1286T>G (p.Val429Gly)
c.791T>G (p.Val264Gly)
c.602T>G (p.Val201Gly)

Number of alleles fetched