Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.73276656_73276659dupCA7258624NUMBc.1876_1879dup (p.Ser627Ter)
c.1732_1735dup (p.Ser579Ter)
c.1843_1846dup (p.Ser616Ter)
c.1291_1294dup (p.Ser432Ter)
c.1258_1261dup (p.Ser421Ter)
c.1699_1702dup (p.Ser568Ter)
c.1405_1408dup (p.Ser470Ter)
c.1444_1447dup (p.Ser483Ter)
c.1438_1441dup (p.Ser481Ter)
c.1834_1837dup (p.Ser613Ter)
c.1867_1870dup (p.Ser624Ter)
c.1723_1726dup (p.Ser576Ter)
c.1582_1585dup (p.Ser529Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.73276656C>ACA390335819NUMBc.1878G>T (p.Lys626Asn)
c.1734G>T (p.Lys578Asn)
c.1845G>T (p.Lys615Asn)
c.1293G>T (p.Lys431Asn)
c.1260G>T (p.Lys420Asn)
c.1701G>T (p.Lys567Asn)
c.1407G>T (p.Lys469Asn)
c.1446G>T (p.Lys482Asn)
c.1440G>T (p.Lys480Asn)
c.1836G>T (p.Lys612Asn)
c.1869G>T (p.Lys623Asn)
c.1725G>T (p.Lys575Asn)
c.1584G>T (p.Lys528Asn)
14g.73276656C>GCA390335821NUMBc.1878G>C (p.Lys626Asn)
c.1734G>C (p.Lys578Asn)
c.1845G>C (p.Lys615Asn)
c.1293G>C (p.Lys431Asn)
c.1260G>C (p.Lys420Asn)
c.1701G>C (p.Lys567Asn)
c.1407G>C (p.Lys469Asn)
c.1446G>C (p.Lys482Asn)
c.1440G>C (p.Lys480Asn)
c.1836G>C (p.Lys612Asn)
c.1869G>C (p.Lys623Asn)
c.1725G>C (p.Lys575Asn)
c.1584G>C (p.Lys528Asn)
14g.73276656C>TCA487257226NUMBc.1878G>A (p.Lys626=)
c.1734G>A (p.Lys578=)
c.1845G>A (p.Lys615=)
c.1293G>A (p.Lys431=)
c.1260G>A (p.Lys420=)
c.1701G>A (p.Lys567=)
c.1407G>A (p.Lys469=)
c.1446G>A (p.Lys482=)
c.1440G>A (p.Lys480=)
c.1836G>A (p.Lys612=)
c.1869G>A (p.Lys623=)
c.1725G>A (p.Lys575=)
c.1584G>A (p.Lys528=)
14g.73276657T>ACA390335825NUMBc.1877A>T (p.Lys626Met)
c.1733A>T (p.Lys578Met)
c.1844A>T (p.Lys615Met)
c.1292A>T (p.Lys431Met)
c.1259A>T (p.Lys420Met)
c.1700A>T (p.Lys567Met)
c.1406A>T (p.Lys469Met)
c.1445A>T (p.Lys482Met)
c.1439A>T (p.Lys480Met)
c.1835A>T (p.Lys612Met)
c.1868A>T (p.Lys623Met)
c.1724A>T (p.Lys575Met)
c.1583A>T (p.Lys528Met)
14g.73276657T>CCA7258626NUMBc.1877A>G (p.Lys626Arg)
c.1733A>G (p.Lys578Arg)
c.1844A>G (p.Lys615Arg)
c.1292A>G (p.Lys431Arg)
c.1259A>G (p.Lys420Arg)
c.1700A>G (p.Lys567Arg)
c.1406A>G (p.Lys469Arg)
c.1445A>G (p.Lys482Arg)
c.1439A>G (p.Lys480Arg)
c.1835A>G (p.Lys612Arg)
c.1868A>G (p.Lys623Arg)
c.1724A>G (p.Lys575Arg)
c.1583A>G (p.Lys528Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.73276657T>GCA390335828NUMBc.1877A>C (p.Lys626Thr)
c.1733A>C (p.Lys578Thr)
c.1844A>C (p.Lys615Thr)
c.1292A>C (p.Lys431Thr)
c.1259A>C (p.Lys420Thr)
c.1700A>C (p.Lys567Thr)
c.1406A>C (p.Lys469Thr)
c.1445A>C (p.Lys482Thr)
c.1439A>C (p.Lys480Thr)
c.1835A>C (p.Lys612Thr)
c.1868A>C (p.Lys623Thr)
c.1724A>C (p.Lys575Thr)
c.1583A>C (p.Lys528Thr)
14g.73276657T=CA2146520877NUMBc.1877A= (p.Lys626=)
c.1733A= (p.Lys578=)
c.1844A= (p.Lys615=)
c.1292A= (p.Lys431=)
c.1259A= (p.Lys420=)
c.1700A= (p.Lys567=)
c.1406A= (p.Lys469=)
c.1445A= (p.Lys482=)
c.1439A= (p.Lys480=)
c.1835A= (p.Lys612=)
c.1868A= (p.Lys623=)
c.1724A= (p.Lys575=)
c.1583A= (p.Lys528=)
14g.73276659_73276661dupCA2625569048NUMBc.1875_1877dup (p.Asn625_Lys626insAsn)
c.1731_1733dup (p.Asn577_Lys578insAsn)
c.1842_1844dup (p.Asn614_Lys615insAsn)
c.1290_1292dup (p.Asn430_Lys431insAsn)
c.1257_1259dup (p.Asn419_Lys420insAsn)
c.1698_1700dup (p.Asn566_Lys567insAsn)
c.1404_1406dup (p.Asn468_Lys469insAsn)
c.1443_1445dup (p.Asn481_Lys482insAsn)
c.1437_1439dup (p.Asn479_Lys480insAsn)
c.1833_1835dup (p.Asn611_Lys612insAsn)
c.1866_1868dup (p.Asn622_Lys623insAsn)
c.1722_1724dup (p.Asn574_Lys575insAsn)
c.1581_1583dup (p.Asn527_Lys528insAsn)
 gnomAD v4
14g.73276658T>ACA390335831NUMBc.1876A>T (p.Lys626Ter)
c.1732A>T (p.Lys578Ter)
c.1843A>T (p.Lys615Ter)
c.1291A>T (p.Lys431Ter)
c.1258A>T (p.Lys420Ter)
c.1699A>T (p.Lys567Ter)
c.1405A>T (p.Lys469Ter)
c.1444A>T (p.Lys482Ter)
c.1438A>T (p.Lys480Ter)
c.1834A>T (p.Lys612Ter)
c.1867A>T (p.Lys623Ter)
c.1723A>T (p.Lys575Ter)
c.1582A>T (p.Lys528Ter)
14g.73276658T>CCA390335832NUMBc.1876A>G (p.Lys626Glu)
c.1732A>G (p.Lys578Glu)
c.1843A>G (p.Lys615Glu)
c.1291A>G (p.Lys431Glu)
c.1258A>G (p.Lys420Glu)
c.1699A>G (p.Lys567Glu)
c.1405A>G (p.Lys469Glu)
c.1444A>G (p.Lys482Glu)
c.1438A>G (p.Lys480Glu)
c.1834A>G (p.Lys612Glu)
c.1867A>G (p.Lys623Glu)
c.1723A>G (p.Lys575Glu)
c.1582A>G (p.Lys528Glu)
14g.73276658T>GCA390335835NUMBc.1876A>C (p.Lys626Gln)
c.1732A>C (p.Lys578Gln)
c.1843A>C (p.Lys615Gln)
c.1291A>C (p.Lys431Gln)
c.1258A>C (p.Lys420Gln)
c.1699A>C (p.Lys567Gln)
c.1405A>C (p.Lys469Gln)
c.1444A>C (p.Lys482Gln)
c.1438A>C (p.Lys480Gln)
c.1834A>C (p.Lys612Gln)
c.1867A>C (p.Lys623Gln)
c.1723A>C (p.Lys575Gln)
c.1582A>C (p.Lys528Gln)
 COSMIC
14g.73276659A=CA2146520878NUMBc.1875T= (p.Asn625=)
c.1731T= (p.Asn577=)
c.1842T= (p.Asn614=)
c.1290T= (p.Asn430=)
c.1257T= (p.Asn419=)
c.1698T= (p.Asn566=)
c.1404T= (p.Asn468=)
c.1443T= (p.Asn481=)
c.1437T= (p.Asn479=)
c.1833T= (p.Asn611=)
c.1866T= (p.Asn622=)
c.1722T= (p.Asn574=)
c.1581T= (p.Asn527=)
14g.73276659A>CCA390335837NUMBc.1875T>G (p.Asn625Lys)
c.1731T>G (p.Asn577Lys)
c.1842T>G (p.Asn614Lys)
c.1290T>G (p.Asn430Lys)
c.1257T>G (p.Asn419Lys)
c.1698T>G (p.Asn566Lys)
c.1404T>G (p.Asn468Lys)
c.1443T>G (p.Asn481Lys)
c.1437T>G (p.Asn479Lys)
c.1833T>G (p.Asn611Lys)
c.1866T>G (p.Asn622Lys)
c.1722T>G (p.Asn574Lys)
c.1581T>G (p.Asn527Lys)
14g.73276659A>GCA7258627NUMBc.1875T>C (p.Asn625=)
c.1731T>C (p.Asn577=)
c.1842T>C (p.Asn614=)
c.1290T>C (p.Asn430=)
c.1257T>C (p.Asn419=)
c.1698T>C (p.Asn566=)
c.1404T>C (p.Asn468=)
c.1443T>C (p.Asn481=)
c.1437T>C (p.Asn479=)
c.1833T>C (p.Asn611=)
c.1866T>C (p.Asn622=)
c.1722T>C (p.Asn574=)
c.1581T>C (p.Asn527=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.73276659A>TCA390335838NUMBc.1875T>A (p.Asn625Lys)
c.1731T>A (p.Asn577Lys)
c.1842T>A (p.Asn614Lys)
c.1290T>A (p.Asn430Lys)
c.1257T>A (p.Asn419Lys)
c.1698T>A (p.Asn566Lys)
c.1404T>A (p.Asn468Lys)
c.1443T>A (p.Asn481Lys)
c.1437T>A (p.Asn479Lys)
c.1833T>A (p.Asn611Lys)
c.1866T>A (p.Asn622Lys)
c.1722T>A (p.Asn574Lys)
c.1581T>A (p.Asn527Lys)
14g.73276660T>ACA390335840NUMBc.1874A>T (p.Asn625Ile)
c.1730A>T (p.Asn577Ile)
c.1841A>T (p.Asn614Ile)
c.1289A>T (p.Asn430Ile)
c.1256A>T (p.Asn419Ile)
c.1697A>T (p.Asn566Ile)
c.1403A>T (p.Asn468Ile)
c.1442A>T (p.Asn481Ile)
c.1436A>T (p.Asn479Ile)
c.1832A>T (p.Asn611Ile)
c.1865A>T (p.Asn622Ile)
c.1721A>T (p.Asn574Ile)
c.1580A>T (p.Asn527Ile)
14g.73276660T>CCA7258628NUMBc.1874A>G (p.Asn625Ser)
c.1730A>G (p.Asn577Ser)
c.1841A>G (p.Asn614Ser)
c.1289A>G (p.Asn430Ser)
c.1256A>G (p.Asn419Ser)
c.1697A>G (p.Asn566Ser)
c.1403A>G (p.Asn468Ser)
c.1442A>G (p.Asn481Ser)
c.1436A>G (p.Asn479Ser)
c.1832A>G (p.Asn611Ser)
c.1865A>G (p.Asn622Ser)
c.1721A>G (p.Asn574Ser)
c.1580A>G (p.Asn527Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.73276660T>GCA390335839NUMBc.1874A>C (p.Asn625Thr)
c.1730A>C (p.Asn577Thr)
c.1841A>C (p.Asn614Thr)
c.1289A>C (p.Asn430Thr)
c.1256A>C (p.Asn419Thr)
c.1697A>C (p.Asn566Thr)
c.1403A>C (p.Asn468Thr)
c.1442A>C (p.Asn481Thr)
c.1436A>C (p.Asn479Thr)
c.1832A>C (p.Asn611Thr)
c.1865A>C (p.Asn622Thr)
c.1721A>C (p.Asn574Thr)
c.1580A>C (p.Asn527Thr)
14g.73276660T=CA2146520879NUMBc.1874A= (p.Asn625=)
c.1730A= (p.Asn577=)
c.1841A= (p.Asn614=)
c.1289A= (p.Asn430=)
c.1256A= (p.Asn419=)
c.1697A= (p.Asn566=)
c.1403A= (p.Asn468=)
c.1442A= (p.Asn481=)
c.1436A= (p.Asn479=)
c.1832A= (p.Asn611=)
c.1865A= (p.Asn622=)
c.1721A= (p.Asn574=)
c.1580A= (p.Asn527=)
14g.73276661T>ACA390335846NUMBc.1873A>T (p.Asn625Tyr)
c.1729A>T (p.Asn577Tyr)
c.1840A>T (p.Asn614Tyr)
c.1288A>T (p.Asn430Tyr)
c.1255A>T (p.Asn419Tyr)
c.1696A>T (p.Asn566Tyr)
c.1402A>T (p.Asn468Tyr)
c.1441A>T (p.Asn481Tyr)
c.1435A>T (p.Asn479Tyr)
c.1831A>T (p.Asn611Tyr)
c.1864A>T (p.Asn622Tyr)
c.1720A>T (p.Asn574Tyr)
c.1579A>T (p.Asn527Tyr)
14g.73276661T>CCA390335847NUMBc.1873A>G (p.Asn625Asp)
c.1729A>G (p.Asn577Asp)
c.1840A>G (p.Asn614Asp)
c.1288A>G (p.Asn430Asp)
c.1255A>G (p.Asn419Asp)
c.1696A>G (p.Asn566Asp)
c.1402A>G (p.Asn468Asp)
c.1441A>G (p.Asn481Asp)
c.1435A>G (p.Asn479Asp)
c.1831A>G (p.Asn611Asp)
c.1864A>G (p.Asn622Asp)
c.1720A>G (p.Asn574Asp)
c.1579A>G (p.Asn527Asp)
 gnomAD v4
14g.73276661T>GCA390335843NUMBc.1873A>C (p.Asn625His)
c.1729A>C (p.Asn577His)
c.1840A>C (p.Asn614His)
c.1288A>C (p.Asn430His)
c.1255A>C (p.Asn419His)
c.1696A>C (p.Asn566His)
c.1402A>C (p.Asn468His)
c.1441A>C (p.Asn481His)
c.1435A>C (p.Asn479His)
c.1831A>C (p.Asn611His)
c.1864A>C (p.Asn622His)
c.1720A>C (p.Asn574His)
c.1579A>C (p.Asn527His)
 dbSNP
14g.73276661T=CA2146520880NUMBc.1873A= (p.Asn625=)
c.1729A= (p.Asn577=)
c.1840A= (p.Asn614=)
c.1288A= (p.Asn430=)
c.1255A= (p.Asn419=)
c.1696A= (p.Asn566=)
c.1402A= (p.Asn468=)
c.1441A= (p.Asn481=)
c.1435A= (p.Asn479=)
c.1831A= (p.Asn611=)
c.1864A= (p.Asn622=)
c.1720A= (p.Asn574=)
c.1579A= (p.Asn527=)
14g.73276661_73276676dupCA7258629NUMBc.1858_1873dup (p.Asn625MetfsTer7)
c.1714_1729dup (p.Asn577MetfsTer7)
c.1825_1840dup (p.Asn614MetfsTer7)
c.1273_1288dup (p.Asn430MetfsTer7)
c.1240_1255dup (p.Asn419MetfsTer7)
c.1681_1696dup (p.Asn566MetfsTer7)
c.1387_1402dup (p.Asn468MetfsTer7)
c.1426_1441dup (p.Asn481MetfsTer7)
c.1420_1435dup (p.Asn479MetfsTer7)
c.1816_1831dup (p.Asn611MetfsTer7)
c.1849_1864dup (p.Asn622MetfsTer7)
c.1705_1720dup (p.Asn574MetfsTer7)
c.1564_1579dup (p.Asn527MetfsTer7)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.73276662T>ACA390335849NUMBc.1872A>T (p.Glu624Asp)
c.1728A>T (p.Glu576Asp)
c.1839A>T (p.Glu613Asp)
c.1287A>T (p.Glu429Asp)
c.1254A>T (p.Glu418Asp)
c.1695A>T (p.Glu565Asp)
c.1401A>T (p.Glu467Asp)
c.1440A>T (p.Glu480Asp)
c.1434A>T (p.Glu478Asp)
c.1830A>T (p.Glu610Asp)
c.1863A>T (p.Glu621Asp)
c.1719A>T (p.Glu573Asp)
c.1578A>T (p.Glu526Asp)
14g.73276662T>CCA487257256NUMBc.1872A>G (p.Glu624=)
c.1728A>G (p.Glu576=)
c.1839A>G (p.Glu613=)
c.1287A>G (p.Glu429=)
c.1254A>G (p.Glu418=)
c.1695A>G (p.Glu565=)
c.1401A>G (p.Glu467=)
c.1440A>G (p.Glu480=)
c.1434A>G (p.Glu478=)
c.1830A>G (p.Glu610=)
c.1863A>G (p.Glu621=)
c.1719A>G (p.Glu573=)
c.1578A>G (p.Glu526=)
14g.73276662T>GCA262630494NUMBc.1872A>C (p.Glu624Asp)
c.1728A>C (p.Glu576Asp)
c.1839A>C (p.Glu613Asp)
c.1287A>C (p.Glu429Asp)
c.1254A>C (p.Glu418Asp)
c.1695A>C (p.Glu565Asp)
c.1401A>C (p.Glu467Asp)
c.1440A>C (p.Glu480Asp)
c.1434A>C (p.Glu478Asp)
c.1830A>C (p.Glu610Asp)
c.1863A>C (p.Glu621Asp)
c.1719A>C (p.Glu573Asp)
c.1578A>C (p.Glu526Asp)
 dbSNP gnomAD v4
14g.73276662T=CA2146520881NUMBc.1872A= (p.Glu624=)
c.1728A= (p.Glu576=)
c.1839A= (p.Glu613=)
c.1287A= (p.Glu429=)
c.1254A= (p.Glu418=)
c.1695A= (p.Glu565=)
c.1401A= (p.Glu467=)
c.1440A= (p.Glu480=)
c.1434A= (p.Glu478=)
c.1830A= (p.Glu610=)
c.1863A= (p.Glu621=)
c.1719A= (p.Glu573=)
c.1578A= (p.Glu526=)
14g.73276663T>ACA390335852NUMBc.1871A>T (p.Glu624Val)
c.1727A>T (p.Glu576Val)
c.1838A>T (p.Glu613Val)
c.1286A>T (p.Glu429Val)
c.1253A>T (p.Glu418Val)
c.1694A>T (p.Glu565Val)
c.1400A>T (p.Glu467Val)
c.1439A>T (p.Glu480Val)
c.1433A>T (p.Glu478Val)
c.1829A>T (p.Glu610Val)
c.1862A>T (p.Glu621Val)
c.1718A>T (p.Glu573Val)
c.1577A>T (p.Glu526Val)
14g.73276663T>CCA390335854NUMBc.1871A>G (p.Glu624Gly)
c.1727A>G (p.Glu576Gly)
c.1838A>G (p.Glu613Gly)
c.1286A>G (p.Glu429Gly)
c.1253A>G (p.Glu418Gly)
c.1694A>G (p.Glu565Gly)
c.1400A>G (p.Glu467Gly)
c.1439A>G (p.Glu480Gly)
c.1433A>G (p.Glu478Gly)
c.1829A>G (p.Glu610Gly)
c.1862A>G (p.Glu621Gly)
c.1718A>G (p.Glu573Gly)
c.1577A>G (p.Glu526Gly)
14g.73276663T>GCA390335856NUMBc.1871A>C (p.Glu624Ala)
c.1727A>C (p.Glu576Ala)
c.1838A>C (p.Glu613Ala)
c.1286A>C (p.Glu429Ala)
c.1253A>C (p.Glu418Ala)
c.1694A>C (p.Glu565Ala)
c.1400A>C (p.Glu467Ala)
c.1439A>C (p.Glu480Ala)
c.1433A>C (p.Glu478Ala)
c.1829A>C (p.Glu610Ala)
c.1862A>C (p.Glu621Ala)
c.1718A>C (p.Glu573Ala)
c.1577A>C (p.Glu526Ala)
14g.73276664C>ACA390335859NUMBc.1870G>T (p.Glu624Ter)
c.1726G>T (p.Glu576Ter)
c.1837G>T (p.Glu613Ter)
c.1285G>T (p.Glu429Ter)
c.1252G>T (p.Glu418Ter)
c.1693G>T (p.Glu565Ter)
c.1399G>T (p.Glu467Ter)
c.1438G>T (p.Glu480Ter)
c.1432G>T (p.Glu478Ter)
c.1828G>T (p.Glu610Ter)
c.1861G>T (p.Glu621Ter)
c.1717G>T (p.Glu573Ter)
c.1576G>T (p.Glu526Ter)
14g.73276664C>GCA390335863NUMBc.1870G>C (p.Glu624Gln)
c.1726G>C (p.Glu576Gln)
c.1837G>C (p.Glu613Gln)
c.1285G>C (p.Glu429Gln)
c.1252G>C (p.Glu418Gln)
c.1693G>C (p.Glu565Gln)
c.1399G>C (p.Glu467Gln)
c.1438G>C (p.Glu480Gln)
c.1432G>C (p.Glu478Gln)
c.1828G>C (p.Glu610Gln)
c.1861G>C (p.Glu621Gln)
c.1717G>C (p.Glu573Gln)
c.1576G>C (p.Glu526Gln)
14g.73276664C>TCA390335867NUMBc.1870G>A (p.Glu624Lys)
c.1726G>A (p.Glu576Lys)
c.1837G>A (p.Glu613Lys)
c.1285G>A (p.Glu429Lys)
c.1252G>A (p.Glu418Lys)
c.1693G>A (p.Glu565Lys)
c.1399G>A (p.Glu467Lys)
c.1438G>A (p.Glu480Lys)
c.1432G>A (p.Glu478Lys)
c.1828G>A (p.Glu610Lys)
c.1861G>A (p.Glu621Lys)
c.1717G>A (p.Glu573Lys)
c.1576G>A (p.Glu526Lys)
14g.73276665T>ACA390335870NUMBc.1869A>T (p.Leu623Phe)
c.1725A>T (p.Leu575Phe)
c.1836A>T (p.Leu612Phe)
c.1284A>T (p.Leu428Phe)
c.1251A>T (p.Leu417Phe)
c.1692A>T (p.Leu564Phe)
c.1398A>T (p.Leu466Phe)
c.1437A>T (p.Leu479Phe)
c.1431A>T (p.Leu477Phe)
c.1827A>T (p.Leu609Phe)
c.1860A>T (p.Leu620Phe)
c.1716A>T (p.Leu572Phe)
c.1575A>T (p.Leu525Phe)
14g.73276665T>CCA487257274NUMBc.1869A>G (p.Leu623=)
c.1725A>G (p.Leu575=)
c.1836A>G (p.Leu612=)
c.1284A>G (p.Leu428=)
c.1251A>G (p.Leu417=)
c.1692A>G (p.Leu564=)
c.1398A>G (p.Leu466=)
c.1437A>G (p.Leu479=)
c.1431A>G (p.Leu477=)
c.1827A>G (p.Leu609=)
c.1860A>G (p.Leu620=)
c.1716A>G (p.Leu572=)
c.1575A>G (p.Leu525=)
14g.73276665T>GCA390335874NUMBc.1869A>C (p.Leu623Phe)
c.1725A>C (p.Leu575Phe)
c.1836A>C (p.Leu612Phe)
c.1284A>C (p.Leu428Phe)
c.1251A>C (p.Leu417Phe)
c.1692A>C (p.Leu564Phe)
c.1398A>C (p.Leu466Phe)
c.1437A>C (p.Leu479Phe)
c.1431A>C (p.Leu477Phe)
c.1827A>C (p.Leu609Phe)
c.1860A>C (p.Leu620Phe)
c.1716A>C (p.Leu572Phe)
c.1575A>C (p.Leu525Phe)
 dbSNP gnomAD v4
14g.73276665T=CA2146520882NUMBc.1869A= (p.Leu623=)
c.1725A= (p.Leu575=)
c.1836A= (p.Leu612=)
c.1284A= (p.Leu428=)
c.1251A= (p.Leu417=)
c.1692A= (p.Leu564=)
c.1398A= (p.Leu466=)
c.1437A= (p.Leu479=)
c.1431A= (p.Leu477=)
c.1827A= (p.Leu609=)
c.1860A= (p.Leu620=)
c.1716A= (p.Leu572=)
c.1575A= (p.Leu525=)
14g.73276666A>CCA390335881NUMBc.1868T>G (p.Leu623Ter)
c.1724T>G (p.Leu575Ter)
c.1835T>G (p.Leu612Ter)
c.1283T>G (p.Leu428Ter)
c.1250T>G (p.Leu417Ter)
c.1691T>G (p.Leu564Ter)
c.1397T>G (p.Leu466Ter)
c.1436T>G (p.Leu479Ter)
c.1430T>G (p.Leu477Ter)
c.1826T>G (p.Leu609Ter)
c.1859T>G (p.Leu620Ter)
c.1715T>G (p.Leu572Ter)
c.1574T>G (p.Leu525Ter)
14g.73276666A>GCA390335879NUMBc.1868T>C (p.Leu623Ser)
c.1724T>C (p.Leu575Ser)
c.1835T>C (p.Leu612Ser)
c.1283T>C (p.Leu428Ser)
c.1250T>C (p.Leu417Ser)
c.1691T>C (p.Leu564Ser)
c.1397T>C (p.Leu466Ser)
c.1436T>C (p.Leu479Ser)
c.1430T>C (p.Leu477Ser)
c.1826T>C (p.Leu609Ser)
c.1859T>C (p.Leu620Ser)
c.1715T>C (p.Leu572Ser)
c.1574T>C (p.Leu525Ser)
14g.73276666A>TCA390335878NUMBc.1868T>A (p.Leu623Ter)
c.1724T>A (p.Leu575Ter)
c.1835T>A (p.Leu612Ter)
c.1283T>A (p.Leu428Ter)
c.1250T>A (p.Leu417Ter)
c.1691T>A (p.Leu564Ter)
c.1397T>A (p.Leu466Ter)
c.1436T>A (p.Leu479Ter)
c.1430T>A (p.Leu477Ter)
c.1826T>A (p.Leu609Ter)
c.1859T>A (p.Leu620Ter)
c.1715T>A (p.Leu572Ter)
c.1574T>A (p.Leu525Ter)
14g.73276667A>CCA390335882NUMBc.1867T>G (p.Leu623Val)
c.1723T>G (p.Leu575Val)
c.1834T>G (p.Leu612Val)
c.1282T>G (p.Leu428Val)
c.1249T>G (p.Leu417Val)
c.1690T>G (p.Leu564Val)
c.1396T>G (p.Leu466Val)
c.1435T>G (p.Leu479Val)
c.1429T>G (p.Leu477Val)
c.1825T>G (p.Leu609Val)
c.1858T>G (p.Leu620Val)
c.1714T>G (p.Leu572Val)
c.1573T>G (p.Leu525Val)
14g.73276667A>GCA487257278NUMBc.1867T>C (p.Leu623=)
c.1723T>C (p.Leu575=)
c.1834T>C (p.Leu612=)
c.1282T>C (p.Leu428=)
c.1249T>C (p.Leu417=)
c.1690T>C (p.Leu564=)
c.1396T>C (p.Leu466=)
c.1435T>C (p.Leu479=)
c.1429T>C (p.Leu477=)
c.1825T>C (p.Leu609=)
c.1858T>C (p.Leu620=)
c.1714T>C (p.Leu572=)
c.1573T>C (p.Leu525=)
 gnomAD v4
14g.73276667A>TCA390335884NUMBc.1867T>A (p.Leu623Ile)
c.1723T>A (p.Leu575Ile)
c.1834T>A (p.Leu612Ile)
c.1282T>A (p.Leu428Ile)
c.1249T>A (p.Leu417Ile)
c.1690T>A (p.Leu564Ile)
c.1396T>A (p.Leu466Ile)
c.1435T>A (p.Leu479Ile)
c.1429T>A (p.Leu477Ile)
c.1825T>A (p.Leu609Ile)
c.1858T>A (p.Leu620Ile)
c.1714T>A (p.Leu572Ile)
c.1573T>A (p.Leu525Ile)
14g.73276668T>ACA487257288NUMBc.1866A>T (p.Ala622=)
c.1722A>T (p.Ala574=)
c.1833A>T (p.Ala611=)
c.1281A>T (p.Ala427=)
c.1248A>T (p.Ala416=)
c.1689A>T (p.Ala563=)
c.1395A>T (p.Ala465=)
c.1434A>T (p.Ala478=)
c.1428A>T (p.Ala476=)
c.1824A>T (p.Ala608=)
c.1857A>T (p.Ala619=)
c.1713A>T (p.Ala571=)
c.1572A>T (p.Ala524=)
14g.73276668T>CCA487257285NUMBc.1866A>G (p.Ala622=)
c.1722A>G (p.Ala574=)
c.1833A>G (p.Ala611=)
c.1281A>G (p.Ala427=)
c.1248A>G (p.Ala416=)
c.1689A>G (p.Ala563=)
c.1395A>G (p.Ala465=)
c.1434A>G (p.Ala478=)
c.1428A>G (p.Ala476=)
c.1824A>G (p.Ala608=)
c.1857A>G (p.Ala619=)
c.1713A>G (p.Ala571=)
c.1572A>G (p.Ala524=)
 dbSNP gnomAD v3 gnomAD v4
14g.73276668T>GCA487257287NUMBc.1866A>C (p.Ala622=)
c.1722A>C (p.Ala574=)
c.1833A>C (p.Ala611=)
c.1281A>C (p.Ala427=)
c.1248A>C (p.Ala416=)
c.1689A>C (p.Ala563=)
c.1395A>C (p.Ala465=)
c.1434A>C (p.Ala478=)
c.1428A>C (p.Ala476=)
c.1824A>C (p.Ala608=)
c.1857A>C (p.Ala619=)
c.1713A>C (p.Ala571=)
c.1572A>C (p.Ala524=)
14g.73276668T=CA2146520883NUMBc.1866A= (p.Ala622=)
c.1722A= (p.Ala574=)
c.1833A= (p.Ala611=)
c.1281A= (p.Ala427=)
c.1248A= (p.Ala416=)
c.1689A= (p.Ala563=)
c.1395A= (p.Ala465=)
c.1434A= (p.Ala478=)
c.1428A= (p.Ala476=)
c.1824A= (p.Ala608=)
c.1857A= (p.Ala619=)
c.1713A= (p.Ala571=)
c.1572A= (p.Ala524=)
14g.73276669G>ACA390335886NUMBc.1865C>T (p.Ala622Val)
c.1721C>T (p.Ala574Val)
c.1832C>T (p.Ala611Val)
c.1280C>T (p.Ala427Val)
c.1247C>T (p.Ala416Val)
c.1688C>T (p.Ala563Val)
c.1394C>T (p.Ala465Val)
c.1433C>T (p.Ala478Val)
c.1427C>T (p.Ala476Val)
c.1823C>T (p.Ala608Val)
c.1856C>T (p.Ala619Val)
c.1712C>T (p.Ala571Val)
c.1571C>T (p.Ala524Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.73276669G>CCA390335888NUMBc.1865C>G (p.Ala622Gly)
c.1721C>G (p.Ala574Gly)
c.1832C>G (p.Ala611Gly)
c.1280C>G (p.Ala427Gly)
c.1247C>G (p.Ala416Gly)
c.1688C>G (p.Ala563Gly)
c.1394C>G (p.Ala465Gly)
c.1433C>G (p.Ala478Gly)
c.1427C>G (p.Ala476Gly)
c.1823C>G (p.Ala608Gly)
c.1856C>G (p.Ala619Gly)
c.1712C>G (p.Ala571Gly)
c.1571C>G (p.Ala524Gly)
14g.73276669G=CA2146520884NUMBc.1865C= (p.Ala622=)
c.1721C= (p.Ala574=)
c.1832C= (p.Ala611=)
c.1280C= (p.Ala427=)
c.1247C= (p.Ala416=)
c.1688C= (p.Ala563=)
c.1394C= (p.Ala465=)
c.1433C= (p.Ala478=)
c.1427C= (p.Ala476=)
c.1823C= (p.Ala608=)
c.1856C= (p.Ala619=)
c.1712C= (p.Ala571=)
c.1571C= (p.Ala524=)
14g.73276669G>TCA390335890NUMBc.1865C>A (p.Ala622Glu)
c.1721C>A (p.Ala574Glu)
c.1832C>A (p.Ala611Glu)
c.1280C>A (p.Ala427Glu)
c.1247C>A (p.Ala416Glu)
c.1688C>A (p.Ala563Glu)
c.1394C>A (p.Ala465Glu)
c.1433C>A (p.Ala478Glu)
c.1427C>A (p.Ala476Glu)
c.1823C>A (p.Ala608Glu)
c.1856C>A (p.Ala619Glu)
c.1712C>A (p.Ala571Glu)
c.1571C>A (p.Ala524Glu)
14g.73276670C>ACA390335892NUMBc.1864G>T (p.Ala622Ser)
c.1720G>T (p.Ala574Ser)
c.1831G>T (p.Ala611Ser)
c.1279G>T (p.Ala427Ser)
c.1246G>T (p.Ala416Ser)
c.1687G>T (p.Ala563Ser)
c.1393G>T (p.Ala465Ser)
c.1432G>T (p.Ala478Ser)
c.1426G>T (p.Ala476Ser)
c.1822G>T (p.Ala608Ser)
c.1855G>T (p.Ala619Ser)
c.1711G>T (p.Ala571Ser)
c.1570G>T (p.Ala524Ser)
14g.73276670C=CA2146520885NUMBc.1864G= (p.Ala622=)
c.1720G= (p.Ala574=)
c.1831G= (p.Ala611=)
c.1279G= (p.Ala427=)
c.1246G= (p.Ala416=)
c.1687G= (p.Ala563=)
c.1393G= (p.Ala465=)
c.1432G= (p.Ala478=)
c.1426G= (p.Ala476=)
c.1822G= (p.Ala608=)
c.1855G= (p.Ala619=)
c.1711G= (p.Ala571=)
c.1570G= (p.Ala524=)
14g.73276670C>GCA390335895NUMBc.1864G>C (p.Ala622Pro)
c.1720G>C (p.Ala574Pro)
c.1831G>C (p.Ala611Pro)
c.1279G>C (p.Ala427Pro)
c.1246G>C (p.Ala416Pro)
c.1687G>C (p.Ala563Pro)
c.1393G>C (p.Ala465Pro)
c.1432G>C (p.Ala478Pro)
c.1426G>C (p.Ala476Pro)
c.1822G>C (p.Ala608Pro)
c.1855G>C (p.Ala619Pro)
c.1711G>C (p.Ala571Pro)
c.1570G>C (p.Ala524Pro)
14g.73276670C>TCA7258630NUMBc.1864G>A (p.Ala622Thr)
c.1720G>A (p.Ala574Thr)
c.1831G>A (p.Ala611Thr)
c.1279G>A (p.Ala427Thr)
c.1246G>A (p.Ala416Thr)
c.1687G>A (p.Ala563Thr)
c.1393G>A (p.Ala465Thr)
c.1432G>A (p.Ala478Thr)
c.1426G>A (p.Ala476Thr)
c.1822G>A (p.Ala608Thr)
c.1855G>A (p.Ala619Thr)
c.1711G>A (p.Ala571Thr)
c.1570G>A (p.Ala524Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.73276671A>CCA487257297NUMBc.1863T>G (p.Ala621=)
c.1719T>G (p.Ala573=)
c.1830T>G (p.Ala610=)
c.1278T>G (p.Ala426=)
c.1245T>G (p.Ala415=)
c.1686T>G (p.Ala562=)
c.1392T>G (p.Ala464=)
c.1431T>G (p.Ala477=)
c.1425T>G (p.Ala475=)
c.1821T>G (p.Ala607=)
c.1854T>G (p.Ala618=)
c.1710T>G (p.Ala570=)
c.1569T>G (p.Ala523=)
14g.73276671A>GCA487257299NUMBc.1863T>C (p.Ala621=)
c.1719T>C (p.Ala573=)
c.1830T>C (p.Ala610=)
c.1278T>C (p.Ala426=)
c.1245T>C (p.Ala415=)
c.1686T>C (p.Ala562=)
c.1392T>C (p.Ala464=)
c.1431T>C (p.Ala477=)
c.1425T>C (p.Ala475=)
c.1821T>C (p.Ala607=)
c.1854T>C (p.Ala618=)
c.1710T>C (p.Ala570=)
c.1569T>C (p.Ala523=)
14g.73276671A>TCA487257298NUMBc.1863T>A (p.Ala621=)
c.1719T>A (p.Ala573=)
c.1830T>A (p.Ala610=)
c.1278T>A (p.Ala426=)
c.1245T>A (p.Ala415=)
c.1686T>A (p.Ala562=)
c.1392T>A (p.Ala464=)
c.1431T>A (p.Ala477=)
c.1425T>A (p.Ala475=)
c.1821T>A (p.Ala607=)
c.1854T>A (p.Ala618=)
c.1710T>A (p.Ala570=)
c.1569T>A (p.Ala523=)
14g.73276672G>ACA390335901NUMBc.1862C>T (p.Ala621Val)
c.1718C>T (p.Ala573Val)
c.1829C>T (p.Ala610Val)
c.1277C>T (p.Ala426Val)
c.1244C>T (p.Ala415Val)
c.1685C>T (p.Ala562Val)
c.1391C>T (p.Ala464Val)
c.1430C>T (p.Ala477Val)
c.1424C>T (p.Ala475Val)
c.1820C>T (p.Ala607Val)
c.1853C>T (p.Ala618Val)
c.1709C>T (p.Ala570Val)
c.1568C>T (p.Ala523Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.73276672G>CCA390335903NUMBc.1862C>G (p.Ala621Gly)
c.1718C>G (p.Ala573Gly)
c.1829C>G (p.Ala610Gly)
c.1277C>G (p.Ala426Gly)
c.1244C>G (p.Ala415Gly)
c.1685C>G (p.Ala562Gly)
c.1391C>G (p.Ala464Gly)
c.1430C>G (p.Ala477Gly)
c.1424C>G (p.Ala475Gly)
c.1820C>G (p.Ala607Gly)
c.1853C>G (p.Ala618Gly)
c.1709C>G (p.Ala570Gly)
c.1568C>G (p.Ala523Gly)
14g.73276672G=CA2146520887NUMBc.1862C= (p.Ala621=)
c.1718C= (p.Ala573=)
c.1829C= (p.Ala610=)
c.1277C= (p.Ala426=)
c.1244C= (p.Ala415=)
c.1685C= (p.Ala562=)
c.1391C= (p.Ala464=)
c.1430C= (p.Ala477=)
c.1424C= (p.Ala475=)
c.1820C= (p.Ala607=)
c.1853C= (p.Ala618=)
c.1709C= (p.Ala570=)
c.1568C= (p.Ala523=)
14g.73276672G>TCA390335905NUMBc.1862C>A (p.Ala621Asp)
c.1718C>A (p.Ala573Asp)
c.1829C>A (p.Ala610Asp)
c.1277C>A (p.Ala426Asp)
c.1244C>A (p.Ala415Asp)
c.1685C>A (p.Ala562Asp)
c.1391C>A (p.Ala464Asp)
c.1430C>A (p.Ala477Asp)
c.1424C>A (p.Ala475Asp)
c.1820C>A (p.Ala607Asp)
c.1853C>A (p.Ala618Asp)
c.1709C>A (p.Ala570Asp)
c.1568C>A (p.Ala523Asp)
14g.73276672_73276673delinsGCCA2146520886NUMBc.1861_1862delinsGC (p.Ala621=)
c.1717_1718delinsGC (p.Ala573=)
c.1828_1829delinsGC (p.Ala610=)
c.1276_1277delinsGC (p.Ala426=)
c.1243_1244delinsGC (p.Ala415=)
c.1684_1685delinsGC (p.Ala562=)
c.1390_1391delinsGC (p.Ala464=)
c.1429_1430delinsGC (p.Ala477=)
c.1423_1424delinsGC (p.Ala475=)
c.1819_1820delinsGC (p.Ala607=)
c.1852_1853delinsGC (p.Ala618=)
c.1708_1709delinsGC (p.Ala570=)
c.1567_1568delinsGC (p.Ala523=)
14g.73276673C>ACA262630498NUMBc.1861G>T (p.Ala621Ser)
c.1717G>T (p.Ala573Ser)
c.1828G>T (p.Ala610Ser)
c.1276G>T (p.Ala426Ser)
c.1243G>T (p.Ala415Ser)
c.1684G>T (p.Ala562Ser)
c.1390G>T (p.Ala464Ser)
c.1429G>T (p.Ala477Ser)
c.1423G>T (p.Ala475Ser)
c.1819G>T (p.Ala607Ser)
c.1852G>T (p.Ala618Ser)
c.1708G>T (p.Ala570Ser)
c.1567G>T (p.Ala523Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.73276673C=CA2146520888NUMBc.1861G= (p.Ala621=)
c.1717G= (p.Ala573=)
c.1828G= (p.Ala610=)
c.1276G= (p.Ala426=)
c.1243G= (p.Ala415=)
c.1684G= (p.Ala562=)
c.1390G= (p.Ala464=)
c.1429G= (p.Ala477=)
c.1423G= (p.Ala475=)
c.1819G= (p.Ala607=)
c.1852G= (p.Ala618=)
c.1708G= (p.Ala570=)
c.1567G= (p.Ala523=)
14g.73276673C>GCA390335921NUMBc.1861G>C (p.Ala621Pro)
c.1717G>C (p.Ala573Pro)
c.1828G>C (p.Ala610Pro)
c.1276G>C (p.Ala426Pro)
c.1243G>C (p.Ala415Pro)
c.1684G>C (p.Ala562Pro)
c.1390G>C (p.Ala464Pro)
c.1429G>C (p.Ala477Pro)
c.1423G>C (p.Ala475Pro)
c.1819G>C (p.Ala607Pro)
c.1852G>C (p.Ala618Pro)
c.1708G>C (p.Ala570Pro)
c.1567G>C (p.Ala523Pro)
14g.73276673C>TCA390335916NUMBc.1861G>A (p.Ala621Thr)
c.1717G>A (p.Ala573Thr)
c.1828G>A (p.Ala610Thr)
c.1276G>A (p.Ala426Thr)
c.1243G>A (p.Ala415Thr)
c.1684G>A (p.Ala562Thr)
c.1390G>A (p.Ala464Thr)
c.1429G>A (p.Ala477Thr)
c.1423G>A (p.Ala475Thr)
c.1819G>A (p.Ala607Thr)
c.1852G>A (p.Ala618Thr)
c.1708G>A (p.Ala570Thr)
c.1567G>A (p.Ala523Thr)
14g.73276675delCA7258631NUMBc.1861del (p.Ala621LeufsTer3)
c.1717del (p.Ala573LeufsTer3)
c.1828del (p.Ala610LeufsTer3)
c.1276del (p.Ala426LeufsTer3)
c.1243del (p.Ala415LeufsTer3)
c.1684del (p.Ala562LeufsTer3)
c.1390del (p.Ala464LeufsTer3)
c.1429del (p.Ala477LeufsTer3)
c.1423del (p.Ala475LeufsTer3)
c.1819del (p.Ala607LeufsTer3)
c.1852del (p.Ala618LeufsTer3)
c.1708del (p.Ala570LeufsTer3)
c.1567del (p.Ala523LeufsTer3)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.73276673_73276693delinsCCCACTGGGCTTCAAAAGGATCA2146520889NUMBc.1841_1861delinsATCCTTTTGAAGCCCAGTGGG (p.Asp614=)
c.1697_1717delinsATCCTTTTGAAGCCCAGTGGG (p.Asp566=)
c.1808_1828delinsATCCTTTTGAAGCCCAGTGGG (p.Asp603=)
c.1256_1276delinsATCCTTTTGAAGCCCAGTGGG (p.Asp419=)
c.1223_1243delinsATCCTTTTGAAGCCCAGTGGG (p.Asp408=)
c.1664_1684delinsATCCTTTTGAAGCCCAGTGGG (p.Asp555=)
c.1370_1390delinsATCCTTTTGAAGCCCAGTGGG (p.Asp457=)
c.1409_1429delinsATCCTTTTGAAGCCCAGTGGG (p.Asp470=)
c.1403_1423delinsATCCTTTTGAAGCCCAGTGGG (p.Asp468=)
c.1799_1819delinsATCCTTTTGAAGCCCAGTGGG (p.Asp600=)
c.1832_1852delinsATCCTTTTGAAGCCCAGTGGG (p.Asp611=)
c.1688_1708delinsATCCTTTTGAAGCCCAGTGGG (p.Asp563=)
c.1547_1567delinsATCCTTTTGAAGCCCAGTGGG (p.Asp516=)
14g.73276674C>ACA390335923NUMBc.1860G>T (p.Trp620Cys)
c.1716G>T (p.Trp572Cys)
c.1827G>T (p.Trp609Cys)
c.1275G>T (p.Trp425Cys)
c.1242G>T (p.Trp414Cys)
c.1683G>T (p.Trp561Cys)
c.1389G>T (p.Trp463Cys)
c.1428G>T (p.Trp476Cys)
c.1422G>T (p.Trp474Cys)
c.1818G>T (p.Trp606Cys)
c.1851G>T (p.Trp617Cys)
c.1707G>T (p.Trp569Cys)
c.1566G>T (p.Trp522Cys)
14g.73276674C=CA2146520890NUMBc.1860G= (p.Trp620=)
c.1716G= (p.Trp572=)
c.1827G= (p.Trp609=)
c.1275G= (p.Trp425=)
c.1242G= (p.Trp414=)
c.1683G= (p.Trp561=)
c.1389G= (p.Trp463=)
c.1428G= (p.Trp476=)
c.1422G= (p.Trp474=)
c.1818G= (p.Trp606=)
c.1851G= (p.Trp617=)
c.1707G= (p.Trp569=)
c.1566G= (p.Trp522=)
14g.73276674C>GCA390335925NUMBc.1860G>C (p.Trp620Cys)
c.1716G>C (p.Trp572Cys)
c.1827G>C (p.Trp609Cys)
c.1275G>C (p.Trp425Cys)
c.1242G>C (p.Trp414Cys)
c.1683G>C (p.Trp561Cys)
c.1389G>C (p.Trp463Cys)
c.1428G>C (p.Trp476Cys)
c.1422G>C (p.Trp474Cys)
c.1818G>C (p.Trp606Cys)
c.1851G>C (p.Trp617Cys)
c.1707G>C (p.Trp569Cys)
c.1566G>C (p.Trp522Cys)
14g.73276674C>TCA7258632NUMBc.1860G>A (p.Trp620Ter)
c.1716G>A (p.Trp572Ter)
c.1827G>A (p.Trp609Ter)
c.1275G>A (p.Trp425Ter)
c.1242G>A (p.Trp414Ter)
c.1683G>A (p.Trp561Ter)
c.1389G>A (p.Trp463Ter)
c.1428G>A (p.Trp476Ter)
c.1422G>A (p.Trp474Ter)
c.1818G>A (p.Trp606Ter)
c.1851G>A (p.Trp617Ter)
c.1707G>A (p.Trp569Ter)
c.1566G>A (p.Trp522Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.73276683_73276702delCA964636976NUMBc.1841_1860del (p.Asp614GlyfsTer6)
c.1697_1716del (p.Asp566GlyfsTer6)
c.1808_1827del (p.Asp603GlyfsTer6)
c.1256_1275del (p.Asp419GlyfsTer6)
c.1223_1242del (p.Asp408GlyfsTer6)
c.1664_1683del (p.Asp555GlyfsTer6)
c.1370_1389del (p.Asp457GlyfsTer6)
c.1409_1428del (p.Asp470GlyfsTer6)
c.1403_1422del (p.Asp468GlyfsTer6)
c.1799_1818del (p.Asp600GlyfsTer6)
c.1832_1851del (p.Asp611GlyfsTer6)
c.1688_1707del (p.Asp563GlyfsTer6)
c.1547_1566del (p.Asp516GlyfsTer6)
 dbSNP gnomAD v3 gnomAD v4
14g.73276675C>ACA390335927NUMBc.1859G>T (p.Trp620Leu)
c.1715G>T (p.Trp572Leu)
c.1826G>T (p.Trp609Leu)
c.1274G>T (p.Trp425Leu)
c.1241G>T (p.Trp414Leu)
c.1682G>T (p.Trp561Leu)
c.1388G>T (p.Trp463Leu)
c.1427G>T (p.Trp476Leu)
c.1421G>T (p.Trp474Leu)
c.1817G>T (p.Trp606Leu)
c.1850G>T (p.Trp617Leu)
c.1706G>T (p.Trp569Leu)
c.1565G>T (p.Trp522Leu)
14g.73276675C>GCA390335928NUMBc.1859G>C (p.Trp620Ser)
c.1715G>C (p.Trp572Ser)
c.1826G>C (p.Trp609Ser)
c.1274G>C (p.Trp425Ser)
c.1241G>C (p.Trp414Ser)
c.1682G>C (p.Trp561Ser)
c.1388G>C (p.Trp463Ser)
c.1427G>C (p.Trp476Ser)
c.1421G>C (p.Trp474Ser)
c.1817G>C (p.Trp606Ser)
c.1850G>C (p.Trp617Ser)
c.1706G>C (p.Trp569Ser)
c.1565G>C (p.Trp522Ser)
 gnomAD v4
14g.73276675C>TCA390335931NUMBc.1859G>A (p.Trp620Ter)
c.1715G>A (p.Trp572Ter)
c.1826G>A (p.Trp609Ter)
c.1274G>A (p.Trp425Ter)
c.1241G>A (p.Trp414Ter)
c.1682G>A (p.Trp561Ter)
c.1388G>A (p.Trp463Ter)
c.1427G>A (p.Trp476Ter)
c.1421G>A (p.Trp474Ter)
c.1817G>A (p.Trp606Ter)
c.1850G>A (p.Trp617Ter)
c.1706G>A (p.Trp569Ter)
c.1565G>A (p.Trp522Ter)
14g.73276676A>CCA390335934NUMBc.1858T>G (p.Trp620Gly)
c.1714T>G (p.Trp572Gly)
c.1825T>G (p.Trp609Gly)
c.1273T>G (p.Trp425Gly)
c.1240T>G (p.Trp414Gly)
c.1681T>G (p.Trp561Gly)
c.1387T>G (p.Trp463Gly)
c.1426T>G (p.Trp476Gly)
c.1420T>G (p.Trp474Gly)
c.1816T>G (p.Trp606Gly)
c.1849T>G (p.Trp617Gly)
c.1705T>G (p.Trp569Gly)
c.1564T>G (p.Trp522Gly)
14g.73276676A>GCA390335932NUMBc.1858T>C (p.Trp620Arg)
c.1714T>C (p.Trp572Arg)
c.1825T>C (p.Trp609Arg)
c.1273T>C (p.Trp425Arg)
c.1240T>C (p.Trp414Arg)
c.1681T>C (p.Trp561Arg)
c.1387T>C (p.Trp463Arg)
c.1426T>C (p.Trp476Arg)
c.1420T>C (p.Trp474Arg)
c.1816T>C (p.Trp606Arg)
c.1849T>C (p.Trp617Arg)
c.1705T>C (p.Trp569Arg)
c.1564T>C (p.Trp522Arg)
14g.73276676A>TCA390335933NUMBc.1858T>A (p.Trp620Arg)
c.1714T>A (p.Trp572Arg)
c.1825T>A (p.Trp609Arg)
c.1273T>A (p.Trp425Arg)
c.1240T>A (p.Trp414Arg)
c.1681T>A (p.Trp561Arg)
c.1387T>A (p.Trp463Arg)
c.1426T>A (p.Trp476Arg)
c.1420T>A (p.Trp474Arg)
c.1816T>A (p.Trp606Arg)
c.1849T>A (p.Trp617Arg)
c.1705T>A (p.Trp569Arg)
c.1564T>A (p.Trp522Arg)
14g.73276677C>ACA390335935NUMBc.1857G>T (p.Gln619His)
c.1713G>T (p.Gln571His)
c.1824G>T (p.Gln608His)
c.1272G>T (p.Gln424His)
c.1239G>T (p.Gln413His)
c.1680G>T (p.Gln560His)
c.1386G>T (p.Gln462His)
c.1425G>T (p.Gln475His)
c.1419G>T (p.Gln473His)
c.1815G>T (p.Gln605His)
c.1848G>T (p.Gln616His)
c.1704G>T (p.Gln568His)
c.1563G>T (p.Gln521His)
14g.73276677C>GCA390335937NUMBc.1857G>C (p.Gln619His)
c.1713G>C (p.Gln571His)
c.1824G>C (p.Gln608His)
c.1272G>C (p.Gln424His)
c.1239G>C (p.Gln413His)
c.1680G>C (p.Gln560His)
c.1386G>C (p.Gln462His)
c.1425G>C (p.Gln475His)
c.1419G>C (p.Gln473His)
c.1815G>C (p.Gln605His)
c.1848G>C (p.Gln616His)
c.1704G>C (p.Gln568His)
c.1563G>C (p.Gln521His)
14g.73276677C>TCA487257325NUMBc.1857G>A (p.Gln619=)
c.1713G>A (p.Gln571=)
c.1824G>A (p.Gln608=)
c.1272G>A (p.Gln424=)
c.1239G>A (p.Gln413=)
c.1680G>A (p.Gln560=)
c.1386G>A (p.Gln462=)
c.1425G>A (p.Gln475=)
c.1419G>A (p.Gln473=)
c.1815G>A (p.Gln605=)
c.1848G>A (p.Gln616=)
c.1704G>A (p.Gln568=)
c.1563G>A (p.Gln521=)
 COSMIC
14g.73276678T>ACA390335938NUMBc.1856A>T (p.Gln619Leu)
c.1712A>T (p.Gln571Leu)
c.1823A>T (p.Gln608Leu)
c.1271A>T (p.Gln424Leu)
c.1238A>T (p.Gln413Leu)
c.1679A>T (p.Gln560Leu)
c.1385A>T (p.Gln462Leu)
c.1424A>T (p.Gln475Leu)
c.1418A>T (p.Gln473Leu)
c.1814A>T (p.Gln605Leu)
c.1847A>T (p.Gln616Leu)
c.1703A>T (p.Gln568Leu)
c.1562A>T (p.Gln521Leu)
14g.73276678T>CCA390335945NUMBc.1856A>G (p.Gln619Arg)
c.1712A>G (p.Gln571Arg)
c.1823A>G (p.Gln608Arg)
c.1271A>G (p.Gln424Arg)
c.1238A>G (p.Gln413Arg)
c.1679A>G (p.Gln560Arg)
c.1385A>G (p.Gln462Arg)
c.1424A>G (p.Gln475Arg)
c.1418A>G (p.Gln473Arg)
c.1814A>G (p.Gln605Arg)
c.1847A>G (p.Gln616Arg)
c.1703A>G (p.Gln568Arg)
c.1562A>G (p.Gln521Arg)
 gnomAD v4
14g.73276678T>GCA390335947NUMBc.1856A>C (p.Gln619Pro)
c.1712A>C (p.Gln571Pro)
c.1823A>C (p.Gln608Pro)
c.1271A>C (p.Gln424Pro)
c.1238A>C (p.Gln413Pro)
c.1679A>C (p.Gln560Pro)
c.1385A>C (p.Gln462Pro)
c.1424A>C (p.Gln475Pro)
c.1418A>C (p.Gln473Pro)
c.1814A>C (p.Gln605Pro)
c.1847A>C (p.Gln616Pro)
c.1703A>C (p.Gln568Pro)
c.1562A>C (p.Gln521Pro)
 dbSNP
14g.73276678T=CA2146520891NUMBc.1856A= (p.Gln619=)
c.1712A= (p.Gln571=)
c.1823A= (p.Gln608=)
c.1271A= (p.Gln424=)
c.1238A= (p.Gln413=)
c.1679A= (p.Gln560=)
c.1385A= (p.Gln462=)
c.1424A= (p.Gln475=)
c.1418A= (p.Gln473=)
c.1814A= (p.Gln605=)
c.1847A= (p.Gln616=)
c.1703A= (p.Gln568=)
c.1562A= (p.Gln521=)
14g.73276679G>ACA390335949NUMBc.1855C>T (p.Gln619Ter)
c.1711C>T (p.Gln571Ter)
c.1822C>T (p.Gln608Ter)
c.1270C>T (p.Gln424Ter)
c.1237C>T (p.Gln413Ter)
c.1678C>T (p.Gln560Ter)
c.1384C>T (p.Gln462Ter)
c.1423C>T (p.Gln475Ter)
c.1417C>T (p.Gln473Ter)
c.1813C>T (p.Gln605Ter)
c.1846C>T (p.Gln616Ter)
c.1702C>T (p.Gln568Ter)
c.1561C>T (p.Gln521Ter)
14g.73276679G>CCA390335955NUMBc.1855C>G (p.Gln619Glu)
c.1711C>G (p.Gln571Glu)
c.1822C>G (p.Gln608Glu)
c.1270C>G (p.Gln424Glu)
c.1237C>G (p.Gln413Glu)
c.1678C>G (p.Gln560Glu)
c.1384C>G (p.Gln462Glu)
c.1423C>G (p.Gln475Glu)
c.1417C>G (p.Gln473Glu)
c.1813C>G (p.Gln605Glu)
c.1846C>G (p.Gln616Glu)
c.1702C>G (p.Gln568Glu)
c.1561C>G (p.Gln521Glu)
14g.73276679G>TCA390335953NUMBc.1855C>A (p.Gln619Lys)
c.1711C>A (p.Gln571Lys)
c.1822C>A (p.Gln608Lys)
c.1270C>A (p.Gln424Lys)
c.1237C>A (p.Gln413Lys)
c.1678C>A (p.Gln560Lys)
c.1384C>A (p.Gln462Lys)
c.1423C>A (p.Gln475Lys)
c.1417C>A (p.Gln473Lys)
c.1813C>A (p.Gln605Lys)
c.1846C>A (p.Gln616Lys)
c.1702C>A (p.Gln568Lys)
c.1561C>A (p.Gln521Lys)
14g.73276680G>ACA487257332NUMBc.1854C>T (p.Ala618=)
c.1710C>T (p.Ala570=)
c.1821C>T (p.Ala607=)
c.1269C>T (p.Ala423=)
c.1236C>T (p.Ala412=)
c.1677C>T (p.Ala559=)
c.1383C>T (p.Ala461=)
c.1422C>T (p.Ala474=)
c.1416C>T (p.Ala472=)
c.1812C>T (p.Ala604=)
c.1845C>T (p.Ala615=)
c.1701C>T (p.Ala567=)
c.1560C>T (p.Ala520=)
 gnomAD v4
14g.73276680G>CCA7258633NUMBc.1854C>G (p.Ala618=)
c.1710C>G (p.Ala570=)
c.1821C>G (p.Ala607=)
c.1269C>G (p.Ala423=)
c.1236C>G (p.Ala412=)
c.1677C>G (p.Ala559=)
c.1383C>G (p.Ala461=)
c.1422C>G (p.Ala474=)
c.1416C>G (p.Ala472=)
c.1812C>G (p.Ala604=)
c.1845C>G (p.Ala615=)
c.1701C>G (p.Ala567=)
c.1560C>G (p.Ala520=)
 dbSNP ExAC gnomAD v2 gnomAD v3
14g.73276680G=CA2146520892NUMBc.1854C= (p.Ala618=)
c.1710C= (p.Ala570=)
c.1821C= (p.Ala607=)
c.1269C= (p.Ala423=)
c.1236C= (p.Ala412=)
c.1677C= (p.Ala559=)
c.1383C= (p.Ala461=)
c.1422C= (p.Ala474=)
c.1416C= (p.Ala472=)
c.1812C= (p.Ala604=)
c.1845C= (p.Ala615=)
c.1701C= (p.Ala567=)
c.1560C= (p.Ala520=)
14g.73276680G>TCA487257335NUMBc.1854C>A (p.Ala618=)
c.1710C>A (p.Ala570=)
c.1821C>A (p.Ala607=)
c.1269C>A (p.Ala423=)
c.1236C>A (p.Ala412=)
c.1677C>A (p.Ala559=)
c.1383C>A (p.Ala461=)
c.1422C>A (p.Ala474=)
c.1416C>A (p.Ala472=)
c.1812C>A (p.Ala604=)
c.1845C>A (p.Ala615=)
c.1701C>A (p.Ala567=)
c.1560C>A (p.Ala520=)
14g.73276681G>ACA390335958NUMBc.1853C>T (p.Ala618Val)
c.1709C>T (p.Ala570Val)
c.1820C>T (p.Ala607Val)
c.1268C>T (p.Ala423Val)
c.1235C>T (p.Ala412Val)
c.1676C>T (p.Ala559Val)
c.1382C>T (p.Ala461Val)
c.1421C>T (p.Ala474Val)
c.1415C>T (p.Ala472Val)
c.1811C>T (p.Ala604Val)
c.1844C>T (p.Ala615Val)
c.1700C>T (p.Ala567Val)
c.1559C>T (p.Ala520Val)
14g.73276681G>CCA390335960NUMBc.1853C>G (p.Ala618Gly)
c.1709C>G (p.Ala570Gly)
c.1820C>G (p.Ala607Gly)
c.1268C>G (p.Ala423Gly)
c.1235C>G (p.Ala412Gly)
c.1676C>G (p.Ala559Gly)
c.1382C>G (p.Ala461Gly)
c.1421C>G (p.Ala474Gly)
c.1415C>G (p.Ala472Gly)
c.1811C>G (p.Ala604Gly)
c.1844C>G (p.Ala615Gly)
c.1700C>G (p.Ala567Gly)
c.1559C>G (p.Ala520Gly)
14g.73276681G>TCA390335961NUMBc.1853C>A (p.Ala618Asp)
c.1709C>A (p.Ala570Asp)
c.1820C>A (p.Ala607Asp)
c.1268C>A (p.Ala423Asp)
c.1235C>A (p.Ala412Asp)
c.1676C>A (p.Ala559Asp)
c.1382C>A (p.Ala461Asp)
c.1421C>A (p.Ala474Asp)
c.1415C>A (p.Ala472Asp)
c.1811C>A (p.Ala604Asp)
c.1844C>A (p.Ala615Asp)
c.1700C>A (p.Ala567Asp)
c.1559C>A (p.Ala520Asp)
14g.73276682C>ACA390335963NUMBc.1852G>T (p.Ala618Ser)
c.1708G>T (p.Ala570Ser)
c.1819G>T (p.Ala607Ser)
c.1267G>T (p.Ala423Ser)
c.1234G>T (p.Ala412Ser)
c.1675G>T (p.Ala559Ser)
c.1381G>T (p.Ala461Ser)
c.1420G>T (p.Ala474Ser)
c.1414G>T (p.Ala472Ser)
c.1810G>T (p.Ala604Ser)
c.1843G>T (p.Ala615Ser)
c.1699G>T (p.Ala567Ser)
c.1558G>T (p.Ala520Ser)
14g.73276682C>GCA390335964NUMBc.1852G>C (p.Ala618Pro)
c.1708G>C (p.Ala570Pro)
c.1819G>C (p.Ala607Pro)
c.1267G>C (p.Ala423Pro)
c.1234G>C (p.Ala412Pro)
c.1675G>C (p.Ala559Pro)
c.1381G>C (p.Ala461Pro)
c.1420G>C (p.Ala474Pro)
c.1414G>C (p.Ala472Pro)
c.1810G>C (p.Ala604Pro)
c.1843G>C (p.Ala615Pro)
c.1699G>C (p.Ala567Pro)
c.1558G>C (p.Ala520Pro)
14g.73276682C>TCA390335966NUMBc.1852G>A (p.Ala618Thr)
c.1708G>A (p.Ala570Thr)
c.1819G>A (p.Ala607Thr)
c.1267G>A (p.Ala423Thr)
c.1234G>A (p.Ala412Thr)
c.1675G>A (p.Ala559Thr)
c.1381G>A (p.Ala461Thr)
c.1420G>A (p.Ala474Thr)
c.1414G>A (p.Ala472Thr)
c.1810G>A (p.Ala604Thr)
c.1843G>A (p.Ala615Thr)
c.1699G>A (p.Ala567Thr)
c.1558G>A (p.Ala520Thr)
14g.73276683T>ACA390335967NUMBc.1851A>T (p.Glu617Asp)
c.1707A>T (p.Glu569Asp)
c.1818A>T (p.Glu606Asp)
c.1266A>T (p.Glu422Asp)
c.1233A>T (p.Glu411Asp)
c.1674A>T (p.Glu558Asp)
c.1380A>T (p.Glu460Asp)
c.1419A>T (p.Glu473Asp)
c.1413A>T (p.Glu471Asp)
c.1809A>T (p.Glu603Asp)
c.1842A>T (p.Glu614Asp)
c.1698A>T (p.Glu566Asp)
c.1557A>T (p.Glu519Asp)
14g.73276683T>CCA487257346NUMBc.1851A>G (p.Glu617=)
c.1707A>G (p.Glu569=)
c.1818A>G (p.Glu606=)
c.1266A>G (p.Glu422=)
c.1233A>G (p.Glu411=)
c.1674A>G (p.Glu558=)
c.1380A>G (p.Glu460=)
c.1419A>G (p.Glu473=)
c.1413A>G (p.Glu471=)
c.1809A>G (p.Glu603=)
c.1842A>G (p.Glu614=)
c.1698A>G (p.Glu566=)
c.1557A>G (p.Glu519=)
14g.73276683T>GCA390335973NUMBc.1851A>C (p.Glu617Asp)
c.1707A>C (p.Glu569Asp)
c.1818A>C (p.Glu606Asp)
c.1266A>C (p.Glu422Asp)
c.1233A>C (p.Glu411Asp)
c.1674A>C (p.Glu558Asp)
c.1380A>C (p.Glu460Asp)
c.1419A>C (p.Glu473Asp)
c.1413A>C (p.Glu471Asp)
c.1809A>C (p.Glu603Asp)
c.1842A>C (p.Glu614Asp)
c.1698A>C (p.Glu566Asp)
c.1557A>C (p.Glu519Asp)
14g.73276684T>ACA390335975NUMBc.1850A>T (p.Glu617Val)
c.1706A>T (p.Glu569Val)
c.1817A>T (p.Glu606Val)
c.1265A>T (p.Glu422Val)
c.1232A>T (p.Glu411Val)
c.1673A>T (p.Glu558Val)
c.1379A>T (p.Glu460Val)
c.1418A>T (p.Glu473Val)
c.1412A>T (p.Glu471Val)
c.1808A>T (p.Glu603Val)
c.1841A>T (p.Glu614Val)
c.1697A>T (p.Glu566Val)
c.1556A>T (p.Glu519Val)
14g.73276684T>CCA390335976NUMBc.1850A>G (p.Glu617Gly)
c.1706A>G (p.Glu569Gly)
c.1817A>G (p.Glu606Gly)
c.1265A>G (p.Glu422Gly)
c.1232A>G (p.Glu411Gly)
c.1673A>G (p.Glu558Gly)
c.1379A>G (p.Glu460Gly)
c.1418A>G (p.Glu473Gly)
c.1412A>G (p.Glu471Gly)
c.1808A>G (p.Glu603Gly)
c.1841A>G (p.Glu614Gly)
c.1697A>G (p.Glu566Gly)
c.1556A>G (p.Glu519Gly)
14g.73276684T>GCA7258634NUMBc.1850A>C (p.Glu617Ala)
c.1706A>C (p.Glu569Ala)
c.1817A>C (p.Glu606Ala)
c.1265A>C (p.Glu422Ala)
c.1232A>C (p.Glu411Ala)
c.1673A>C (p.Glu558Ala)
c.1379A>C (p.Glu460Ala)
c.1418A>C (p.Glu473Ala)
c.1412A>C (p.Glu471Ala)
c.1808A>C (p.Glu603Ala)
c.1841A>C (p.Glu614Ala)
c.1697A>C (p.Glu566Ala)
c.1556A>C (p.Glu519Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.73276684T=CA2146520893NUMBc.1850A= (p.Glu617=)
c.1706A= (p.Glu569=)
c.1817A= (p.Glu606=)
c.1265A= (p.Glu422=)
c.1232A= (p.Glu411=)
c.1673A= (p.Glu558=)
c.1379A= (p.Glu460=)
c.1418A= (p.Glu473=)
c.1412A= (p.Glu471=)
c.1808A= (p.Glu603=)
c.1841A= (p.Glu614=)
c.1697A= (p.Glu566=)
c.1556A= (p.Glu519=)
14g.73276685C>ACA390335977NUMBc.1849G>T (p.Glu617Ter)
c.1705G>T (p.Glu569Ter)
c.1816G>T (p.Glu606Ter)
c.1264G>T (p.Glu422Ter)
c.1231G>T (p.Glu411Ter)
c.1672G>T (p.Glu558Ter)
c.1378G>T (p.Glu460Ter)
c.1417G>T (p.Glu473Ter)
c.1411G>T (p.Glu471Ter)
c.1807G>T (p.Glu603Ter)
c.1840G>T (p.Glu614Ter)
c.1696G>T (p.Glu566Ter)
c.1555G>T (p.Glu519Ter)
14g.73276685C=CA2146520894NUMBc.1849G= (p.Glu617=)
c.1705G= (p.Glu569=)
c.1816G= (p.Glu606=)
c.1264G= (p.Glu422=)
c.1231G= (p.Glu411=)
c.1672G= (p.Glu558=)
c.1378G= (p.Glu460=)
c.1417G= (p.Glu473=)
c.1411G= (p.Glu471=)
c.1807G= (p.Glu603=)
c.1840G= (p.Glu614=)
c.1696G= (p.Glu566=)
c.1555G= (p.Glu519=)
14g.73276685C>GCA390335978NUMBc.1849G>C (p.Glu617Gln)
c.1705G>C (p.Glu569Gln)
c.1816G>C (p.Glu606Gln)
c.1264G>C (p.Glu422Gln)
c.1231G>C (p.Glu411Gln)
c.1672G>C (p.Glu558Gln)
c.1378G>C (p.Glu460Gln)
c.1417G>C (p.Glu473Gln)
c.1411G>C (p.Glu471Gln)
c.1807G>C (p.Glu603Gln)
c.1840G>C (p.Glu614Gln)
c.1696G>C (p.Glu566Gln)
c.1555G>C (p.Glu519Gln)
14g.73276685C>TCA7258635NUMBc.1849G>A (p.Glu617Lys)
c.1705G>A (p.Glu569Lys)
c.1816G>A (p.Glu606Lys)
c.1264G>A (p.Glu422Lys)
c.1231G>A (p.Glu411Lys)
c.1672G>A (p.Glu558Lys)
c.1378G>A (p.Glu460Lys)
c.1417G>A (p.Glu473Lys)
c.1411G>A (p.Glu471Lys)
c.1807G>A (p.Glu603Lys)
c.1840G>A (p.Glu614Lys)
c.1696G>A (p.Glu566Lys)
c.1555G>A (p.Glu519Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.73276685_73276686delinsCACA2146520895NUMBc.1848_1849delinsTG (p.Phe616=)
c.1704_1705delinsTG (p.Phe568=)
c.1815_1816delinsTG (p.Phe605=)
c.1263_1264delinsTG (p.Phe421=)
c.1230_1231delinsTG (p.Phe410=)
c.1671_1672delinsTG (p.Phe557=)
c.1377_1378delinsTG (p.Phe459=)
c.1416_1417delinsTG (p.Phe472=)
c.1410_1411delinsTG (p.Phe470=)
c.1806_1807delinsTG (p.Phe602=)
c.1839_1840delinsTG (p.Phe613=)
c.1695_1696delinsTG (p.Phe565=)
c.1554_1555delinsTG (p.Phe518=)
14g.73276686A>CCA390335983NUMBc.1848T>G (p.Phe616Leu)
c.1704T>G (p.Phe568Leu)
c.1815T>G (p.Phe605Leu)
c.1263T>G (p.Phe421Leu)
c.1230T>G (p.Phe410Leu)
c.1671T>G (p.Phe557Leu)
c.1377T>G (p.Phe459Leu)
c.1416T>G (p.Phe472Leu)
c.1410T>G (p.Phe470Leu)
c.1806T>G (p.Phe602Leu)
c.1839T>G (p.Phe613Leu)
c.1695T>G (p.Phe565Leu)
c.1554T>G (p.Phe518Leu)
14g.73276686A>GCA487257358NUMBc.1848T>C (p.Phe616=)
c.1704T>C (p.Phe568=)
c.1815T>C (p.Phe605=)
c.1263T>C (p.Phe421=)
c.1230T>C (p.Phe410=)
c.1671T>C (p.Phe557=)
c.1377T>C (p.Phe459=)
c.1416T>C (p.Phe472=)
c.1410T>C (p.Phe470=)
c.1806T>C (p.Phe602=)
c.1839T>C (p.Phe613=)
c.1695T>C (p.Phe565=)
c.1554T>C (p.Phe518=)
14g.73276686A>TCA390335988NUMBc.1848T>A (p.Phe616Leu)
c.1704T>A (p.Phe568Leu)
c.1815T>A (p.Phe605Leu)
c.1263T>A (p.Phe421Leu)
c.1230T>A (p.Phe410Leu)
c.1671T>A (p.Phe557Leu)
c.1377T>A (p.Phe459Leu)
c.1416T>A (p.Phe472Leu)
c.1410T>A (p.Phe470Leu)
c.1806T>A (p.Phe602Leu)
c.1839T>A (p.Phe613Leu)
c.1695T>A (p.Phe565Leu)
c.1554T>A (p.Phe518Leu)
14g.73276689delCA964636995NUMBc.1848del (p.Phe616LeufsTer8)
c.1704del (p.Phe568LeufsTer8)
c.1815del (p.Phe605LeufsTer8)
c.1263del (p.Phe421LeufsTer8)
c.1230del (p.Phe410LeufsTer8)
c.1671del (p.Phe557LeufsTer8)
c.1377del (p.Phe459LeufsTer8)
c.1416del (p.Phe472LeufsTer8)
c.1410del (p.Phe470LeufsTer8)
c.1806del (p.Phe602LeufsTer8)
c.1839del (p.Phe613LeufsTer8)
c.1695del (p.Phe565LeufsTer8)
c.1554del (p.Phe518LeufsTer8)
 dbSNP gnomAD v3 gnomAD v4
14g.73276687A>CCA390335992NUMBc.1847T>G (p.Phe616Cys)
c.1703T>G (p.Phe568Cys)
c.1814T>G (p.Phe605Cys)
c.1262T>G (p.Phe421Cys)
c.1229T>G (p.Phe410Cys)
c.1670T>G (p.Phe557Cys)
c.1376T>G (p.Phe459Cys)
c.1415T>G (p.Phe472Cys)
c.1409T>G (p.Phe470Cys)
c.1805T>G (p.Phe602Cys)
c.1838T>G (p.Phe613Cys)
c.1694T>G (p.Phe565Cys)
c.1553T>G (p.Phe518Cys)
14g.73276687A>GCA390335995NUMBc.1847T>C (p.Phe616Ser)
c.1703T>C (p.Phe568Ser)
c.1814T>C (p.Phe605Ser)
c.1262T>C (p.Phe421Ser)
c.1229T>C (p.Phe410Ser)
c.1670T>C (p.Phe557Ser)
c.1376T>C (p.Phe459Ser)
c.1415T>C (p.Phe472Ser)
c.1409T>C (p.Phe470Ser)
c.1805T>C (p.Phe602Ser)
c.1838T>C (p.Phe613Ser)
c.1694T>C (p.Phe565Ser)
c.1553T>C (p.Phe518Ser)
14g.73276687A>TCA390335997NUMBc.1847T>A (p.Phe616Tyr)
c.1703T>A (p.Phe568Tyr)
c.1814T>A (p.Phe605Tyr)
c.1262T>A (p.Phe421Tyr)
c.1229T>A (p.Phe410Tyr)
c.1670T>A (p.Phe557Tyr)
c.1376T>A (p.Phe459Tyr)
c.1415T>A (p.Phe472Tyr)
c.1409T>A (p.Phe470Tyr)
c.1805T>A (p.Phe602Tyr)
c.1838T>A (p.Phe613Tyr)
c.1694T>A (p.Phe565Tyr)
c.1553T>A (p.Phe518Tyr)
14g.73276688A>CCA390335998NUMBc.1846T>G (p.Phe616Val)
c.1702T>G (p.Phe568Val)
c.1813T>G (p.Phe605Val)
c.1261T>G (p.Phe421Val)
c.1228T>G (p.Phe410Val)
c.1669T>G (p.Phe557Val)
c.1375T>G (p.Phe459Val)
c.1414T>G (p.Phe472Val)
c.1408T>G (p.Phe470Val)
c.1804T>G (p.Phe602Val)
c.1837T>G (p.Phe613Val)
c.1693T>G (p.Phe565Val)
c.1552T>G (p.Phe518Val)
14g.73276688A>GCA390336005NUMBc.1846T>C (p.Phe616Leu)
c.1702T>C (p.Phe568Leu)
c.1813T>C (p.Phe605Leu)
c.1261T>C (p.Phe421Leu)
c.1228T>C (p.Phe410Leu)
c.1669T>C (p.Phe557Leu)
c.1375T>C (p.Phe459Leu)
c.1414T>C (p.Phe472Leu)
c.1408T>C (p.Phe470Leu)
c.1804T>C (p.Phe602Leu)
c.1837T>C (p.Phe613Leu)
c.1693T>C (p.Phe565Leu)
c.1552T>C (p.Phe518Leu)
14g.73276688A>TCA390336006NUMBc.1846T>A (p.Phe616Ile)
c.1702T>A (p.Phe568Ile)
c.1813T>A (p.Phe605Ile)
c.1261T>A (p.Phe421Ile)
c.1228T>A (p.Phe410Ile)
c.1669T>A (p.Phe557Ile)
c.1375T>A (p.Phe459Ile)
c.1414T>A (p.Phe472Ile)
c.1408T>A (p.Phe470Ile)
c.1804T>A (p.Phe602Ile)
c.1837T>A (p.Phe613Ile)
c.1693T>A (p.Phe565Ile)
c.1552T>A (p.Phe518Ile)
14g.73276689A>CCA487257366NUMBc.1845T>G (p.Pro615=)
c.1701T>G (p.Pro567=)
c.1812T>G (p.Pro604=)
c.1260T>G (p.Pro420=)
c.1227T>G (p.Pro409=)
c.1668T>G (p.Pro556=)
c.1374T>G (p.Pro458=)
c.1413T>G (p.Pro471=)
c.1407T>G (p.Pro469=)
c.1803T>G (p.Pro601=)
c.1836T>G (p.Pro612=)
c.1692T>G (p.Pro564=)
c.1551T>G (p.Pro517=)
 gnomAD v4
14g.73276689A>GCA487257367NUMBc.1845T>C (p.Pro615=)
c.1701T>C (p.Pro567=)
c.1812T>C (p.Pro604=)
c.1260T>C (p.Pro420=)
c.1227T>C (p.Pro409=)
c.1668T>C (p.Pro556=)
c.1374T>C (p.Pro458=)
c.1413T>C (p.Pro471=)
c.1407T>C (p.Pro469=)
c.1803T>C (p.Pro601=)
c.1836T>C (p.Pro612=)
c.1692T>C (p.Pro564=)
c.1551T>C (p.Pro517=)
14g.73276689A>TCA487257369NUMBc.1845T>A (p.Pro615=)
c.1701T>A (p.Pro567=)
c.1812T>A (p.Pro604=)
c.1260T>A (p.Pro420=)
c.1227T>A (p.Pro409=)
c.1668T>A (p.Pro556=)
c.1374T>A (p.Pro458=)
c.1413T>A (p.Pro471=)
c.1407T>A (p.Pro469=)
c.1803T>A (p.Pro601=)
c.1836T>A (p.Pro612=)
c.1692T>A (p.Pro564=)
c.1551T>A (p.Pro517=)
14g.73276689_73276691delinsAGGCA2146520896NUMBc.1843_1845delinsCCT (p.Pro615=)
c.1699_1701delinsCCT (p.Pro567=)
c.1810_1812delinsCCT (p.Pro604=)
c.1258_1260delinsCCT (p.Pro420=)
c.1225_1227delinsCCT (p.Pro409=)
c.1666_1668delinsCCT (p.Pro556=)
c.1372_1374delinsCCT (p.Pro458=)
c.1411_1413delinsCCT (p.Pro471=)
c.1405_1407delinsCCT (p.Pro469=)
c.1801_1803delinsCCT (p.Pro601=)
c.1834_1836delinsCCT (p.Pro612=)
c.1690_1692delinsCCT (p.Pro564=)
c.1549_1551delinsCCT (p.Pro517=)
14g.73276690G>ACA390336008NUMBc.1844C>T (p.Pro615Leu)
c.1700C>T (p.Pro567Leu)
c.1811C>T (p.Pro604Leu)
c.1259C>T (p.Pro420Leu)
c.1226C>T (p.Pro409Leu)
c.1667C>T (p.Pro556Leu)
c.1373C>T (p.Pro458Leu)
c.1412C>T (p.Pro471Leu)
c.1406C>T (p.Pro469Leu)
c.1802C>T (p.Pro601Leu)
c.1835C>T (p.Pro612Leu)
c.1691C>T (p.Pro564Leu)
c.1550C>T (p.Pro517Leu)
14g.73276690G>CCA390336009NUMBc.1844C>G (p.Pro615Arg)
c.1700C>G (p.Pro567Arg)
c.1811C>G (p.Pro604Arg)
c.1259C>G (p.Pro420Arg)
c.1226C>G (p.Pro409Arg)
c.1667C>G (p.Pro556Arg)
c.1373C>G (p.Pro458Arg)
c.1412C>G (p.Pro471Arg)
c.1406C>G (p.Pro469Arg)
c.1802C>G (p.Pro601Arg)
c.1835C>G (p.Pro612Arg)
c.1691C>G (p.Pro564Arg)
c.1550C>G (p.Pro517Arg)
14g.73276690G>TCA390336010NUMBc.1844C>A (p.Pro615His)
c.1700C>A (p.Pro567His)
c.1811C>A (p.Pro604His)
c.1259C>A (p.Pro420His)
c.1226C>A (p.Pro409His)
c.1667C>A (p.Pro556His)
c.1373C>A (p.Pro458His)
c.1412C>A (p.Pro471His)
c.1406C>A (p.Pro469His)
c.1802C>A (p.Pro601His)
c.1835C>A (p.Pro612His)
c.1691C>A (p.Pro564His)
c.1550C>A (p.Pro517His)
14g.73276690_73276691delCA7258636NUMBc.1843_1844del (p.Pro615PhefsTer2)
c.1699_1700del (p.Pro567PhefsTer2)
c.1810_1811del (p.Pro604PhefsTer2)
c.1258_1259del (p.Pro420PhefsTer2)
c.1225_1226del (p.Pro409PhefsTer2)
c.1666_1667del (p.Pro556PhefsTer2)
c.1372_1373del (p.Pro458PhefsTer2)
c.1411_1412del (p.Pro471PhefsTer2)
c.1405_1406del (p.Pro469PhefsTer2)
c.1801_1802del (p.Pro601PhefsTer2)
c.1834_1835del (p.Pro612PhefsTer2)
c.1690_1691del (p.Pro564PhefsTer2)
c.1549_1550del (p.Pro517PhefsTer2)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.73276691G>ACA390336011NUMBc.1843C>T (p.Pro615Ser)
c.1699C>T (p.Pro567Ser)
c.1810C>T (p.Pro604Ser)
c.1258C>T (p.Pro420Ser)
c.1225C>T (p.Pro409Ser)
c.1666C>T (p.Pro556Ser)
c.1372C>T (p.Pro458Ser)
c.1411C>T (p.Pro471Ser)
c.1405C>T (p.Pro469Ser)
c.1801C>T (p.Pro601Ser)
c.1834C>T (p.Pro612Ser)
c.1690C>T (p.Pro564Ser)
c.1549C>T (p.Pro517Ser)
 gnomAD v4
14g.73276691G>CCA390336013NUMBc.1843C>G (p.Pro615Ala)
c.1699C>G (p.Pro567Ala)
c.1810C>G (p.Pro604Ala)
c.1258C>G (p.Pro420Ala)
c.1225C>G (p.Pro409Ala)
c.1666C>G (p.Pro556Ala)
c.1372C>G (p.Pro458Ala)
c.1411C>G (p.Pro471Ala)
c.1405C>G (p.Pro469Ala)
c.1801C>G (p.Pro601Ala)
c.1834C>G (p.Pro612Ala)
c.1690C>G (p.Pro564Ala)
c.1549C>G (p.Pro517Ala)
 gnomAD v4
14g.73276691G>TCA390336014NUMBc.1843C>A (p.Pro615Thr)
c.1699C>A (p.Pro567Thr)
c.1810C>A (p.Pro604Thr)
c.1258C>A (p.Pro420Thr)
c.1225C>A (p.Pro409Thr)
c.1666C>A (p.Pro556Thr)
c.1372C>A (p.Pro458Thr)
c.1411C>A (p.Pro471Thr)
c.1405C>A (p.Pro469Thr)
c.1801C>A (p.Pro601Thr)
c.1834C>A (p.Pro612Thr)
c.1690C>A (p.Pro564Thr)
c.1549C>A (p.Pro517Thr)
14g.73276692A>CCA390336015NUMBc.1842T>G (p.Asp614Glu)
c.1698T>G (p.Asp566Glu)
c.1809T>G (p.Asp603Glu)
c.1257T>G (p.Asp419Glu)
c.1224T>G (p.Asp408Glu)
c.1665T>G (p.Asp555Glu)
c.1371T>G (p.Asp457Glu)
c.1410T>G (p.Asp470Glu)
c.1404T>G (p.Asp468Glu)
c.1800T>G (p.Asp600Glu)
c.1833T>G (p.Asp611Glu)
c.1689T>G (p.Asp563Glu)
c.1548T>G (p.Asp516Glu)
14g.73276692A>GCA487257384NUMBc.1842T>C (p.Asp614=)
c.1698T>C (p.Asp566=)
c.1809T>C (p.Asp603=)
c.1257T>C (p.Asp419=)
c.1224T>C (p.Asp408=)
c.1665T>C (p.Asp555=)
c.1371T>C (p.Asp457=)
c.1410T>C (p.Asp470=)
c.1404T>C (p.Asp468=)
c.1800T>C (p.Asp600=)
c.1833T>C (p.Asp611=)
c.1689T>C (p.Asp563=)
c.1548T>C (p.Asp516=)
14g.73276692A>TCA390336016NUMBc.1842T>A (p.Asp614Glu)
c.1698T>A (p.Asp566Glu)
c.1809T>A (p.Asp603Glu)
c.1257T>A (p.Asp419Glu)
c.1224T>A (p.Asp408Glu)
c.1665T>A (p.Asp555Glu)
c.1371T>A (p.Asp457Glu)
c.1410T>A (p.Asp470Glu)
c.1404T>A (p.Asp468Glu)
c.1800T>A (p.Asp600Glu)
c.1833T>A (p.Asp611Glu)
c.1689T>A (p.Asp563Glu)
c.1548T>A (p.Asp516Glu)
14g.73276692_73276694delinsATCCA2146520897NUMBc.1840_1842delinsGAT (p.Asp614=)
c.1696_1698delinsGAT (p.Asp566=)
c.1807_1809delinsGAT (p.Asp603=)
c.1255_1257delinsGAT (p.Asp419=)
c.1222_1224delinsGAT (p.Asp408=)
c.1663_1665delinsGAT (p.Asp555=)
c.1369_1371delinsGAT (p.Asp457=)
c.1408_1410delinsGAT (p.Asp470=)
c.1402_1404delinsGAT (p.Asp468=)
c.1798_1800delinsGAT (p.Asp600=)
c.1831_1833delinsGAT (p.Asp611=)
c.1687_1689delinsGAT (p.Asp563=)
c.1546_1548delinsGAT (p.Asp516=)
14g.73276693T>ACA262630506NUMBc.1841A>T (p.Asp614Val)
c.1697A>T (p.Asp566Val)
c.1808A>T (p.Asp603Val)
c.1256A>T (p.Asp419Val)
c.1223A>T (p.Asp408Val)
c.1664A>T (p.Asp555Val)
c.1370A>T (p.Asp457Val)
c.1409A>T (p.Asp470Val)
c.1403A>T (p.Asp468Val)
c.1799A>T (p.Asp600Val)
c.1832A>T (p.Asp611Val)
c.1688A>T (p.Asp563Val)
c.1547A>T (p.Asp516Val)
 dbSNP gnomAD v3 gnomAD v4
14g.73276693T>CCA390336017NUMBc.1841A>G (p.Asp614Gly)
c.1697A>G (p.Asp566Gly)
c.1808A>G (p.Asp603Gly)
c.1256A>G (p.Asp419Gly)
c.1223A>G (p.Asp408Gly)
c.1664A>G (p.Asp555Gly)
c.1370A>G (p.Asp457Gly)
c.1409A>G (p.Asp470Gly)
c.1403A>G (p.Asp468Gly)
c.1799A>G (p.Asp600Gly)
c.1832A>G (p.Asp611Gly)
c.1688A>G (p.Asp563Gly)
c.1547A>G (p.Asp516Gly)
14g.73276693T>GCA390336020NUMBc.1841A>C (p.Asp614Ala)
c.1697A>C (p.Asp566Ala)
c.1808A>C (p.Asp603Ala)
c.1256A>C (p.Asp419Ala)
c.1223A>C (p.Asp408Ala)
c.1664A>C (p.Asp555Ala)
c.1370A>C (p.Asp457Ala)
c.1409A>C (p.Asp470Ala)
c.1403A>C (p.Asp468Ala)
c.1799A>C (p.Asp600Ala)
c.1832A>C (p.Asp611Ala)
c.1688A>C (p.Asp563Ala)
c.1547A>C (p.Asp516Ala)
14g.73276693T=CA2146520898NUMBc.1841A= (p.Asp614=)
c.1697A= (p.Asp566=)
c.1808A= (p.Asp603=)
c.1256A= (p.Asp419=)
c.1223A= (p.Asp408=)
c.1664A= (p.Asp555=)
c.1370A= (p.Asp457=)
c.1409A= (p.Asp470=)
c.1403A= (p.Asp468=)
c.1799A= (p.Asp600=)
c.1832A= (p.Asp611=)
c.1688A= (p.Asp563=)
c.1547A= (p.Asp516=)
14g.73276693_73276694delCA7258637NUMBc.1840_1841del (p.Asp614SerfsTer3)
c.1696_1697del (p.Asp566SerfsTer3)
c.1807_1808del (p.Asp603SerfsTer3)
c.1255_1256del (p.Asp419SerfsTer3)
c.1222_1223del (p.Asp408SerfsTer3)
c.1663_1664del (p.Asp555SerfsTer3)
c.1369_1370del (p.Asp457SerfsTer3)
c.1408_1409del (p.Asp470SerfsTer3)
c.1402_1403del (p.Asp468SerfsTer3)
c.1798_1799del (p.Asp600SerfsTer3)
c.1831_1832del (p.Asp611SerfsTer3)
c.1687_1688del (p.Asp563SerfsTer3)
c.1546_1547del (p.Asp516SerfsTer3)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.73276694C>ACA390336034NUMBc.1840G>T (p.Asp614Tyr)
c.1696G>T (p.Asp566Tyr)
c.1807G>T (p.Asp603Tyr)
c.1255G>T (p.Asp419Tyr)
c.1222G>T (p.Asp408Tyr)
c.1663G>T (p.Asp555Tyr)
c.1369G>T (p.Asp457Tyr)
c.1408G>T (p.Asp470Tyr)
c.1402G>T (p.Asp468Tyr)
c.1798G>T (p.Asp600Tyr)
c.1831G>T (p.Asp611Tyr)
c.1687G>T (p.Asp563Tyr)
c.1546G>T (p.Asp516Tyr)
14g.73276694C>GCA390336035NUMBc.1840G>C (p.Asp614His)
c.1696G>C (p.Asp566His)
c.1807G>C (p.Asp603His)
c.1255G>C (p.Asp419His)
c.1222G>C (p.Asp408His)
c.1663G>C (p.Asp555His)
c.1369G>C (p.Asp457His)
c.1408G>C (p.Asp470His)
c.1402G>C (p.Asp468His)
c.1798G>C (p.Asp600His)
c.1831G>C (p.Asp611His)
c.1687G>C (p.Asp563His)
c.1546G>C (p.Asp516His)
14g.73276694C>TCA390336036NUMBc.1840G>A (p.Asp614Asn)
c.1696G>A (p.Asp566Asn)
c.1807G>A (p.Asp603Asn)
c.1255G>A (p.Asp419Asn)
c.1222G>A (p.Asp408Asn)
c.1663G>A (p.Asp555Asn)
c.1369G>A (p.Asp457Asn)
c.1408G>A (p.Asp470Asn)
c.1402G>A (p.Asp468Asn)
c.1798G>A (p.Asp600Asn)
c.1831G>A (p.Asp611Asn)
c.1687G>A (p.Asp563Asn)
c.1546G>A (p.Asp516Asn)
14g.73276695C>ACA487257398NUMBc.1839G>T (p.Val613=)
c.1695G>T (p.Val565=)
c.1806G>T (p.Val602=)
c.1254G>T (p.Val418=)
c.1221G>T (p.Val407=)
c.1662G>T (p.Val554=)
c.1368G>T (p.Val456=)
c.1407G>T (p.Val469=)
c.1401G>T (p.Val467=)
c.1797G>T (p.Val599=)
c.1830G>T (p.Val610=)
c.1686G>T (p.Val562=)
c.1545G>T (p.Val515=)
14g.73276695C=CA2146520899NUMBc.1839G= (p.Val613=)
c.1695G= (p.Val565=)
c.1806G= (p.Val602=)
c.1254G= (p.Val418=)
c.1221G= (p.Val407=)
c.1662G= (p.Val554=)
c.1368G= (p.Val456=)
c.1407G= (p.Val469=)
c.1401G= (p.Val467=)
c.1797G= (p.Val599=)
c.1830G= (p.Val610=)
c.1686G= (p.Val562=)
c.1545G= (p.Val515=)
14g.73276695C>GCA487257400NUMBc.1839G>C (p.Val613=)
c.1695G>C (p.Val565=)
c.1806G>C (p.Val602=)
c.1254G>C (p.Val418=)
c.1221G>C (p.Val407=)
c.1662G>C (p.Val554=)
c.1368G>C (p.Val456=)
c.1407G>C (p.Val469=)
c.1401G>C (p.Val467=)
c.1797G>C (p.Val599=)
c.1830G>C (p.Val610=)
c.1686G>C (p.Val562=)
c.1545G>C (p.Val515=)
14g.73276695C>TCA487257401NUMBc.1839G>A (p.Val613=)
c.1695G>A (p.Val565=)
c.1806G>A (p.Val602=)
c.1254G>A (p.Val418=)
c.1221G>A (p.Val407=)
c.1662G>A (p.Val554=)
c.1368G>A (p.Val456=)
c.1407G>A (p.Val469=)
c.1401G>A (p.Val467=)
c.1797G>A (p.Val599=)
c.1830G>A (p.Val610=)
c.1686G>A (p.Val562=)
c.1545G>A (p.Val515=)
 dbSNP gnomAD v2 gnomAD v4
14g.73276696A=CA2146520900NUMBc.1838T= (p.Val613=)
c.1694T= (p.Val565=)
c.1805T= (p.Val602=)
c.1253T= (p.Val418=)
c.1220T= (p.Val407=)
c.1661T= (p.Val554=)
c.1367T= (p.Val456=)
c.1406T= (p.Val469=)
c.1400T= (p.Val467=)
c.1796T= (p.Val599=)
c.1829T= (p.Val610=)
c.1685T= (p.Val562=)
c.1544T= (p.Val515=)
14g.73276696A>CCA7258638NUMBc.1838T>G (p.Val613Gly)
c.1694T>G (p.Val565Gly)
c.1805T>G (p.Val602Gly)
c.1253T>G (p.Val418Gly)
c.1220T>G (p.Val407Gly)
c.1661T>G (p.Val554Gly)
c.1367T>G (p.Val456Gly)
c.1406T>G (p.Val469Gly)
c.1400T>G (p.Val467Gly)
c.1796T>G (p.Val599Gly)
c.1829T>G (p.Val610Gly)
c.1685T>G (p.Val562Gly)
c.1544T>G (p.Val515Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.73276696A>GCA390336037NUMBc.1838T>C (p.Val613Ala)
c.1694T>C (p.Val565Ala)
c.1805T>C (p.Val602Ala)
c.1253T>C (p.Val418Ala)
c.1220T>C (p.Val407Ala)
c.1661T>C (p.Val554Ala)
c.1367T>C (p.Val456Ala)
c.1406T>C (p.Val469Ala)
c.1400T>C (p.Val467Ala)
c.1796T>C (p.Val599Ala)
c.1829T>C (p.Val610Ala)
c.1685T>C (p.Val562Ala)
c.1544T>C (p.Val515Ala)
14g.73276696A>TCA390336039NUMBc.1838T>A (p.Val613Glu)
c.1694T>A (p.Val565Glu)
c.1805T>A (p.Val602Glu)
c.1253T>A (p.Val418Glu)
c.1220T>A (p.Val407Glu)
c.1661T>A (p.Val554Glu)
c.1367T>A (p.Val456Glu)
c.1406T>A (p.Val469Glu)
c.1400T>A (p.Val467Glu)
c.1796T>A (p.Val599Glu)
c.1829T>A (p.Val610Glu)
c.1685T>A (p.Val562Glu)
c.1544T>A (p.Val515Glu)
 gnomAD v4
14g.73276697C>ACA390336041NUMBc.1837G>T (p.Val613Leu)
c.1693G>T (p.Val565Leu)
c.1804G>T (p.Val602Leu)
c.1252G>T (p.Val418Leu)
c.1219G>T (p.Val407Leu)
c.1660G>T (p.Val554Leu)
c.1366G>T (p.Val456Leu)
c.1405G>T (p.Val469Leu)
c.1399G>T (p.Val467Leu)
c.1795G>T (p.Val599Leu)
c.1828G>T (p.Val610Leu)
c.1684G>T (p.Val562Leu)
c.1543G>T (p.Val515Leu)
14g.73276697C>GCA390336043NUMBc.1837G>C (p.Val613Leu)
c.1693G>C (p.Val565Leu)
c.1804G>C (p.Val602Leu)
c.1252G>C (p.Val418Leu)
c.1219G>C (p.Val407Leu)
c.1660G>C (p.Val554Leu)
c.1366G>C (p.Val456Leu)
c.1405G>C (p.Val469Leu)
c.1399G>C (p.Val467Leu)
c.1795G>C (p.Val599Leu)
c.1828G>C (p.Val610Leu)
c.1684G>C (p.Val562Leu)
c.1543G>C (p.Val515Leu)
14g.73276697C>TCA390336044NUMBc.1837G>A (p.Val613Met)
c.1693G>A (p.Val565Met)
c.1804G>A (p.Val602Met)
c.1252G>A (p.Val418Met)
c.1219G>A (p.Val407Met)
c.1660G>A (p.Val554Met)
c.1366G>A (p.Val456Met)
c.1405G>A (p.Val469Met)
c.1399G>A (p.Val467Met)
c.1795G>A (p.Val599Met)
c.1828G>A (p.Val610Met)
c.1684G>A (p.Val562Met)
c.1543G>A (p.Val515Met)
14g.73276698T>ACA487257420NUMBc.1836A>T (p.Pro612=)
c.1692A>T (p.Pro564=)
c.1803A>T (p.Pro601=)
c.1251A>T (p.Pro417=)
c.1218A>T (p.Pro406=)
c.1659A>T (p.Pro553=)
c.1365A>T (p.Pro455=)
c.1404A>T (p.Pro468=)
c.1398A>T (p.Pro466=)
c.1794A>T (p.Pro598=)
c.1827A>T (p.Pro609=)
c.1683A>T (p.Pro561=)
c.1542A>T (p.Pro514=)
14g.73276698T>CCA487257421NUMBc.1836A>G (p.Pro612=)
c.1692A>G (p.Pro564=)
c.1803A>G (p.Pro601=)
c.1251A>G (p.Pro417=)
c.1218A>G (p.Pro406=)
c.1659A>G (p.Pro553=)
c.1365A>G (p.Pro455=)
c.1404A>G (p.Pro468=)
c.1398A>G (p.Pro466=)
c.1794A>G (p.Pro598=)
c.1827A>G (p.Pro609=)
c.1683A>G (p.Pro561=)
c.1542A>G (p.Pro514=)
14g.73276698T>GCA487257422NUMBc.1836A>C (p.Pro612=)
c.1692A>C (p.Pro564=)
c.1803A>C (p.Pro601=)
c.1251A>C (p.Pro417=)
c.1218A>C (p.Pro406=)
c.1659A>C (p.Pro553=)
c.1365A>C (p.Pro455=)
c.1404A>C (p.Pro468=)
c.1398A>C (p.Pro466=)
c.1794A>C (p.Pro598=)
c.1827A>C (p.Pro609=)
c.1683A>C (p.Pro561=)
c.1542A>C (p.Pro514=)
14g.73276699G>ACA390336049NUMBc.1835C>T (p.Pro612Leu)
c.1691C>T (p.Pro564Leu)
c.1802C>T (p.Pro601Leu)
c.1250C>T (p.Pro417Leu)
c.1217C>T (p.Pro406Leu)
c.1658C>T (p.Pro553Leu)
c.1364C>T (p.Pro455Leu)
c.1403C>T (p.Pro468Leu)
c.1397C>T (p.Pro466Leu)
c.1793C>T (p.Pro598Leu)
c.1826C>T (p.Pro609Leu)
c.1682C>T (p.Pro561Leu)
c.1541C>T (p.Pro514Leu)
14g.73276699G>CCA390336046NUMBc.1835C>G (p.Pro612Arg)
c.1691C>G (p.Pro564Arg)
c.1802C>G (p.Pro601Arg)
c.1250C>G (p.Pro417Arg)
c.1217C>G (p.Pro406Arg)
c.1658C>G (p.Pro553Arg)
c.1364C>G (p.Pro455Arg)
c.1403C>G (p.Pro468Arg)
c.1397C>G (p.Pro466Arg)
c.1793C>G (p.Pro598Arg)
c.1826C>G (p.Pro609Arg)
c.1682C>G (p.Pro561Arg)
c.1541C>G (p.Pro514Arg)
14g.73276699G>TCA390336047NUMBc.1835C>A (p.Pro612Gln)
c.1691C>A (p.Pro564Gln)
c.1802C>A (p.Pro601Gln)
c.1250C>A (p.Pro417Gln)
c.1217C>A (p.Pro406Gln)
c.1658C>A (p.Pro553Gln)
c.1364C>A (p.Pro455Gln)
c.1403C>A (p.Pro468Gln)
c.1397C>A (p.Pro466Gln)
c.1793C>A (p.Pro598Gln)
c.1826C>A (p.Pro609Gln)
c.1682C>A (p.Pro561Gln)
c.1541C>A (p.Pro514Gln)
14g.73276700G>ACA390336052NUMBc.1834C>T (p.Pro612Ser)
c.1690C>T (p.Pro564Ser)
c.1801C>T (p.Pro601Ser)
c.1249C>T (p.Pro417Ser)
c.1216C>T (p.Pro406Ser)
c.1657C>T (p.Pro553Ser)
c.1363C>T (p.Pro455Ser)
c.1402C>T (p.Pro468Ser)
c.1396C>T (p.Pro466Ser)
c.1792C>T (p.Pro598Ser)
c.1825C>T (p.Pro609Ser)
c.1681C>T (p.Pro561Ser)
c.1540C>T (p.Pro514Ser)
14g.73276700G>CCA390336053NUMBc.1834C>G (p.Pro612Ala)
c.1690C>G (p.Pro564Ala)
c.1801C>G (p.Pro601Ala)
c.1249C>G (p.Pro417Ala)
c.1216C>G (p.Pro406Ala)
c.1657C>G (p.Pro553Ala)
c.1363C>G (p.Pro455Ala)
c.1402C>G (p.Pro468Ala)
c.1396C>G (p.Pro466Ala)
c.1792C>G (p.Pro598Ala)
c.1825C>G (p.Pro609Ala)
c.1681C>G (p.Pro561Ala)
c.1540C>G (p.Pro514Ala)
14g.73276700G>TCA390336055NUMBc.1834C>A (p.Pro612Thr)
c.1690C>A (p.Pro564Thr)
c.1801C>A (p.Pro601Thr)
c.1249C>A (p.Pro417Thr)
c.1216C>A (p.Pro406Thr)
c.1657C>A (p.Pro553Thr)
c.1363C>A (p.Pro455Thr)
c.1402C>A (p.Pro468Thr)
c.1396C>A (p.Pro466Thr)
c.1792C>A (p.Pro598Thr)
c.1825C>A (p.Pro609Thr)
c.1681C>A (p.Pro561Thr)
c.1540C>A (p.Pro514Thr)
 gnomAD v4
14g.73276701G>ACA487257432NUMBc.1833C>T (p.Cys611=)
c.1689C>T (p.Cys563=)
c.1800C>T (p.Cys600=)
c.1248C>T (p.Cys416=)
c.1215C>T (p.Cys405=)
c.1656C>T (p.Cys552=)
c.1362C>T (p.Cys454=)
c.1401C>T (p.Cys467=)
c.1395C>T (p.Cys465=)
c.1791C>T (p.Cys597=)
c.1824C>T (p.Cys608=)
c.1680C>T (p.Cys560=)
c.1539C>T (p.Cys513=)
14g.73276701G>CCA390336060NUMBc.1833C>G (p.Cys611Trp)
c.1689C>G (p.Cys563Trp)
c.1800C>G (p.Cys600Trp)
c.1248C>G (p.Cys416Trp)
c.1215C>G (p.Cys405Trp)
c.1656C>G (p.Cys552Trp)
c.1362C>G (p.Cys454Trp)
c.1401C>G (p.Cys467Trp)
c.1395C>G (p.Cys465Trp)
c.1791C>G (p.Cys597Trp)
c.1824C>G (p.Cys608Trp)
c.1680C>G (p.Cys560Trp)
c.1539C>G (p.Cys513Trp)
14g.73276701G>TCA390336061NUMBc.1833C>A (p.Cys611Ter)
c.1689C>A (p.Cys563Ter)
c.1800C>A (p.Cys600Ter)
c.1248C>A (p.Cys416Ter)
c.1215C>A (p.Cys405Ter)
c.1656C>A (p.Cys552Ter)
c.1362C>A (p.Cys454Ter)
c.1401C>A (p.Cys467Ter)
c.1395C>A (p.Cys465Ter)
c.1791C>A (p.Cys597Ter)
c.1824C>A (p.Cys608Ter)
c.1680C>A (p.Cys560Ter)
c.1539C>A (p.Cys513Ter)
14g.73276702C>ACA390336064NUMBc.1832G>T (p.Cys611Phe)
c.1688G>T (p.Cys563Phe)
c.1799G>T (p.Cys600Phe)
c.1247G>T (p.Cys416Phe)
c.1214G>T (p.Cys405Phe)
c.1655G>T (p.Cys552Phe)
c.1361G>T (p.Cys454Phe)
c.1400G>T (p.Cys467Phe)
c.1394G>T (p.Cys465Phe)
c.1790G>T (p.Cys597Phe)
c.1823G>T (p.Cys608Phe)
c.1679G>T (p.Cys560Phe)
c.1538G>T (p.Cys513Phe)
14g.73276702C=CA2146520901NUMBc.1832G= (p.Cys611=)
c.1688G= (p.Cys563=)
c.1799G= (p.Cys600=)
c.1247G= (p.Cys416=)
c.1214G= (p.Cys405=)
c.1655G= (p.Cys552=)
c.1361G= (p.Cys454=)
c.1400G= (p.Cys467=)
c.1394G= (p.Cys465=)
c.1790G= (p.Cys597=)
c.1823G= (p.Cys608=)
c.1679G= (p.Cys560=)
c.1538G= (p.Cys513=)
14g.73276702C>GCA390336063NUMBc.1832G>C (p.Cys611Ser)
c.1688G>C (p.Cys563Ser)
c.1799G>C (p.Cys600Ser)
c.1247G>C (p.Cys416Ser)
c.1214G>C (p.Cys405Ser)
c.1655G>C (p.Cys552Ser)
c.1361G>C (p.Cys454Ser)
c.1400G>C (p.Cys467Ser)
c.1394G>C (p.Cys465Ser)
c.1790G>C (p.Cys597Ser)
c.1823G>C (p.Cys608Ser)
c.1679G>C (p.Cys560Ser)
c.1538G>C (p.Cys513Ser)
14g.73276702C>TCA262630509NUMBc.1832G>A (p.Cys611Tyr)
c.1688G>A (p.Cys563Tyr)
c.1799G>A (p.Cys600Tyr)
c.1247G>A (p.Cys416Tyr)
c.1214G>A (p.Cys405Tyr)
c.1655G>A (p.Cys552Tyr)
c.1361G>A (p.Cys454Tyr)
c.1400G>A (p.Cys467Tyr)
c.1394G>A (p.Cys465Tyr)
c.1790G>A (p.Cys597Tyr)
c.1823G>A (p.Cys608Tyr)
c.1679G>A (p.Cys560Tyr)
c.1538G>A (p.Cys513Tyr)
 dbSNP gnomAD v4
14g.73276703A>CCA390336065NUMBc.1831T>G (p.Cys611Gly)
c.1687T>G (p.Cys563Gly)
c.1798T>G (p.Cys600Gly)
c.1246T>G (p.Cys416Gly)
c.1213T>G (p.Cys405Gly)
c.1654T>G (p.Cys552Gly)
c.1360T>G (p.Cys454Gly)
c.1399T>G (p.Cys467Gly)
c.1393T>G (p.Cys465Gly)
c.1789T>G (p.Cys597Gly)
c.1822T>G (p.Cys608Gly)
c.1678T>G (p.Cys560Gly)
c.1537T>G (p.Cys513Gly)
14g.73276703A>GCA390336067NUMBc.1831T>C (p.Cys611Arg)
c.1687T>C (p.Cys563Arg)
c.1798T>C (p.Cys600Arg)
c.1246T>C (p.Cys416Arg)
c.1213T>C (p.Cys405Arg)
c.1654T>C (p.Cys552Arg)
c.1360T>C (p.Cys454Arg)
c.1399T>C (p.Cys467Arg)
c.1393T>C (p.Cys465Arg)
c.1789T>C (p.Cys597Arg)
c.1822T>C (p.Cys608Arg)
c.1678T>C (p.Cys560Arg)
c.1537T>C (p.Cys513Arg)
14g.73276703A>TCA390336069NUMBc.1831T>A (p.Cys611Ser)
c.1687T>A (p.Cys563Ser)
c.1798T>A (p.Cys600Ser)
c.1246T>A (p.Cys416Ser)
c.1213T>A (p.Cys405Ser)
c.1654T>A (p.Cys552Ser)
c.1360T>A (p.Cys454Ser)
c.1399T>A (p.Cys467Ser)
c.1393T>A (p.Cys465Ser)
c.1789T>A (p.Cys597Ser)
c.1822T>A (p.Cys608Ser)
c.1678T>A (p.Cys560Ser)
c.1537T>A (p.Cys513Ser)
14g.73276704G>ACA487257445NUMBc.1830C>T (p.Thr610=)
c.1686C>T (p.Thr562=)
c.1797C>T (p.Thr599=)
c.1245C>T (p.Thr415=)
c.1212C>T (p.Thr404=)
c.1653C>T (p.Thr551=)
c.1359C>T (p.Thr453=)
c.1398C>T (p.Thr466=)
c.1392C>T (p.Thr464=)
c.1788C>T (p.Thr596=)
c.1821C>T (p.Thr607=)
c.1677C>T (p.Thr559=)
c.1536C>T (p.Thr512=)
 gnomAD v4
14g.73276704G>CCA487257451NUMBc.1830C>G (p.Thr610=)
c.1686C>G (p.Thr562=)
c.1797C>G (p.Thr599=)
c.1245C>G (p.Thr415=)
c.1212C>G (p.Thr404=)
c.1653C>G (p.Thr551=)
c.1359C>G (p.Thr453=)
c.1398C>G (p.Thr466=)
c.1392C>G (p.Thr464=)
c.1788C>G (p.Thr596=)
c.1821C>G (p.Thr607=)
c.1677C>G (p.Thr559=)
c.1536C>G (p.Thr512=)
14g.73276704G>TCA487257453NUMBc.1830C>A (p.Thr610=)
c.1686C>A (p.Thr562=)
c.1797C>A (p.Thr599=)
c.1245C>A (p.Thr415=)
c.1212C>A (p.Thr404=)
c.1653C>A (p.Thr551=)
c.1359C>A (p.Thr453=)
c.1398C>A (p.Thr466=)
c.1392C>A (p.Thr464=)
c.1788C>A (p.Thr596=)
c.1821C>A (p.Thr607=)
c.1677C>A (p.Thr559=)
c.1536C>A (p.Thr512=)
14g.73276705G>ACA262630511NUMBc.1829C>T (p.Thr610Ile)
c.1685C>T (p.Thr562Ile)
c.1796C>T (p.Thr599Ile)
c.1244C>T (p.Thr415Ile)
c.1211C>T (p.Thr404Ile)
c.1652C>T (p.Thr551Ile)
c.1358C>T (p.Thr453Ile)
c.1397C>T (p.Thr466Ile)
c.1391C>T (p.Thr464Ile)
c.1787C>T (p.Thr596Ile)
c.1820C>T (p.Thr607Ile)
c.1676C>T (p.Thr559Ile)
c.1535C>T (p.Thr512Ile)
 dbSNP gnomAD v3 gnomAD v4
14g.73276705G>CCA390336071NUMBc.1829C>G (p.Thr610Ser)
c.1685C>G (p.Thr562Ser)
c.1796C>G (p.Thr599Ser)
c.1244C>G (p.Thr415Ser)
c.1211C>G (p.Thr404Ser)
c.1652C>G (p.Thr551Ser)
c.1358C>G (p.Thr453Ser)
c.1397C>G (p.Thr466Ser)
c.1391C>G (p.Thr464Ser)
c.1787C>G (p.Thr596Ser)
c.1820C>G (p.Thr607Ser)
c.1676C>G (p.Thr559Ser)
c.1535C>G (p.Thr512Ser)
14g.73276705G=CA2146520902NUMBc.1829C= (p.Thr610=)
c.1685C= (p.Thr562=)
c.1796C= (p.Thr599=)
c.1244C= (p.Thr415=)
c.1211C= (p.Thr404=)
c.1652C= (p.Thr551=)
c.1358C= (p.Thr453=)
c.1397C= (p.Thr466=)
c.1391C= (p.Thr464=)
c.1787C= (p.Thr596=)
c.1820C= (p.Thr607=)
c.1676C= (p.Thr559=)
c.1535C= (p.Thr512=)
14g.73276705G>TCA390336073NUMBc.1829C>A (p.Thr610Asn)
c.1685C>A (p.Thr562Asn)
c.1796C>A (p.Thr599Asn)
c.1244C>A (p.Thr415Asn)
c.1211C>A (p.Thr404Asn)
c.1652C>A (p.Thr551Asn)
c.1358C>A (p.Thr453Asn)
c.1397C>A (p.Thr466Asn)
c.1391C>A (p.Thr464Asn)
c.1787C>A (p.Thr596Asn)
c.1820C>A (p.Thr607Asn)
c.1676C>A (p.Thr559Asn)
c.1535C>A (p.Thr512Asn)
14g.73276706T>ACA390336086NUMBc.1828A>T (p.Thr610Ser)
c.1684A>T (p.Thr562Ser)
c.1795A>T (p.Thr599Ser)
c.1243A>T (p.Thr415Ser)
c.1210A>T (p.Thr404Ser)
c.1651A>T (p.Thr551Ser)
c.1357A>T (p.Thr453Ser)
c.1396A>T (p.Thr466Ser)
c.1390A>T (p.Thr464Ser)
c.1786A>T (p.Thr596Ser)
c.1819A>T (p.Thr607Ser)
c.1675A>T (p.Thr559Ser)
c.1534A>T (p.Thr512Ser)
14g.73276706T>CCA390336076NUMBc.1828A>G (p.Thr610Ala)
c.1684A>G (p.Thr562Ala)
c.1795A>G (p.Thr599Ala)
c.1243A>G (p.Thr415Ala)
c.1210A>G (p.Thr404Ala)
c.1651A>G (p.Thr551Ala)
c.1357A>G (p.Thr453Ala)
c.1396A>G (p.Thr466Ala)
c.1390A>G (p.Thr464Ala)
c.1786A>G (p.Thr596Ala)
c.1819A>G (p.Thr607Ala)
c.1675A>G (p.Thr559Ala)
c.1534A>G (p.Thr512Ala)
14g.73276706T>GCA390336085NUMBc.1828A>C (p.Thr610Pro)
c.1684A>C (p.Thr562Pro)
c.1795A>C (p.Thr599Pro)
c.1243A>C (p.Thr415Pro)
c.1210A>C (p.Thr404Pro)
c.1651A>C (p.Thr551Pro)
c.1357A>C (p.Thr453Pro)
c.1396A>C (p.Thr466Pro)
c.1390A>C (p.Thr464Pro)
c.1786A>C (p.Thr596Pro)
c.1819A>C (p.Thr607Pro)
c.1675A>C (p.Thr559Pro)
c.1534A>C (p.Thr512Pro)
14g.73276707G>ACA7258639NUMBc.1827C>T (p.Gly609=)
c.1683C>T (p.Gly561=)
c.1794C>T (p.Gly598=)
c.1242C>T (p.Gly414=)
c.1209C>T (p.Gly403=)
c.1650C>T (p.Gly550=)
c.1356C>T (p.Gly452=)
c.1395C>T (p.Gly465=)
c.1389C>T (p.Gly463=)
c.1785C>T (p.Gly595=)
c.1818C>T (p.Gly606=)
c.1674C>T (p.Gly558=)
c.1533C>T (p.Gly511=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.73276707G>CCA487257462NUMBc.1827C>G (p.Gly609=)
c.1683C>G (p.Gly561=)
c.1794C>G (p.Gly598=)
c.1242C>G (p.Gly414=)
c.1209C>G (p.Gly403=)
c.1650C>G (p.Gly550=)
c.1356C>G (p.Gly452=)
c.1395C>G (p.Gly465=)
c.1389C>G (p.Gly463=)
c.1785C>G (p.Gly595=)
c.1818C>G (p.Gly606=)
c.1674C>G (p.Gly558=)
c.1533C>G (p.Gly511=)
14g.73276707G=CA2146520903NUMBc.1827C= (p.Gly609=)
c.1683C= (p.Gly561=)
c.1794C= (p.Gly598=)
c.1242C= (p.Gly414=)
c.1209C= (p.Gly403=)
c.1650C= (p.Gly550=)
c.1356C= (p.Gly452=)
c.1395C= (p.Gly465=)
c.1389C= (p.Gly463=)
c.1785C= (p.Gly595=)
c.1818C= (p.Gly606=)
c.1674C= (p.Gly558=)
c.1533C= (p.Gly511=)
14g.73276707G>TCA487257464NUMBc.1827C>A (p.Gly609=)
c.1683C>A (p.Gly561=)
c.1794C>A (p.Gly598=)
c.1242C>A (p.Gly414=)
c.1209C>A (p.Gly403=)
c.1650C>A (p.Gly550=)
c.1356C>A (p.Gly452=)
c.1395C>A (p.Gly465=)
c.1389C>A (p.Gly463=)
c.1785C>A (p.Gly595=)
c.1818C>A (p.Gly606=)
c.1674C>A (p.Gly558=)
c.1533C>A (p.Gly511=)
14g.73276708C>ACA390336089NUMBc.1826G>T (p.Gly609Val)
c.1682G>T (p.Gly561Val)
c.1793G>T (p.Gly598Val)
c.1241G>T (p.Gly414Val)
c.1208G>T (p.Gly403Val)
c.1649G>T (p.Gly550Val)
c.1355G>T (p.Gly452Val)
c.1394G>T (p.Gly465Val)
c.1388G>T (p.Gly463Val)
c.1784G>T (p.Gly595Val)
c.1817G>T (p.Gly606Val)
c.1673G>T (p.Gly558Val)
c.1532G>T (p.Gly511Val)
14g.73276708C>GCA390336092NUMBc.1826G>C (p.Gly609Ala)
c.1682G>C (p.Gly561Ala)
c.1793G>C (p.Gly598Ala)
c.1241G>C (p.Gly414Ala)
c.1208G>C (p.Gly403Ala)
c.1649G>C (p.Gly550Ala)
c.1355G>C (p.Gly452Ala)
c.1394G>C (p.Gly465Ala)
c.1388G>C (p.Gly463Ala)
c.1784G>C (p.Gly595Ala)
c.1817G>C (p.Gly606Ala)
c.1673G>C (p.Gly558Ala)
c.1532G>C (p.Gly511Ala)
14g.73276708C>TCA390336095NUMBc.1826G>A (p.Gly609Asp)
c.1682G>A (p.Gly561Asp)
c.1793G>A (p.Gly598Asp)
c.1241G>A (p.Gly414Asp)
c.1208G>A (p.Gly403Asp)
c.1649G>A (p.Gly550Asp)
c.1355G>A (p.Gly452Asp)
c.1394G>A (p.Gly465Asp)
c.1388G>A (p.Gly463Asp)
c.1784G>A (p.Gly595Asp)
c.1817G>A (p.Gly606Asp)
c.1673G>A (p.Gly558Asp)
c.1532G>A (p.Gly511Asp)
14g.73276709C>ACA390336098NUMBc.1825G>T (p.Gly609Cys)
c.1681G>T (p.Gly561Cys)
c.1792G>T (p.Gly598Cys)
c.1240G>T (p.Gly414Cys)
c.1207G>T (p.Gly403Cys)
c.1648G>T (p.Gly550Cys)
c.1354G>T (p.Gly452Cys)
c.1393G>T (p.Gly465Cys)
c.1387G>T (p.Gly463Cys)
c.1783G>T (p.Gly595Cys)
c.1816G>T (p.Gly606Cys)
c.1672G>T (p.Gly558Cys)
c.1531G>T (p.Gly511Cys)
14g.73276709C=CA2146520904NUMBc.1825G= (p.Gly609=)
c.1681G= (p.Gly561=)
c.1792G= (p.Gly598=)
c.1240G= (p.Gly414=)
c.1207G= (p.Gly403=)
c.1648G= (p.Gly550=)
c.1354G= (p.Gly452=)
c.1393G= (p.Gly465=)
c.1387G= (p.Gly463=)
c.1783G= (p.Gly595=)
c.1816G= (p.Gly606=)
c.1672G= (p.Gly558=)
c.1531G= (p.Gly511=)
14g.73276709C>GCA390336102NUMBc.1825G>C (p.Gly609Arg)
c.1681G>C (p.Gly561Arg)
c.1792G>C (p.Gly598Arg)
c.1240G>C (p.Gly414Arg)
c.1207G>C (p.Gly403Arg)
c.1648G>C (p.Gly550Arg)
c.1354G>C (p.Gly452Arg)
c.1393G>C (p.Gly465Arg)
c.1387G>C (p.Gly463Arg)
c.1783G>C (p.Gly595Arg)
c.1816G>C (p.Gly606Arg)
c.1672G>C (p.Gly558Arg)
c.1531G>C (p.Gly511Arg)
 dbSNP gnomAD v2 gnomAD v4
14g.73276709C>TCA390336104NUMBc.1825G>A (p.Gly609Ser)
c.1681G>A (p.Gly561Ser)
c.1792G>A (p.Gly598Ser)
c.1240G>A (p.Gly414Ser)
c.1207G>A (p.Gly403Ser)
c.1648G>A (p.Gly550Ser)
c.1354G>A (p.Gly452Ser)
c.1393G>A (p.Gly465Ser)
c.1387G>A (p.Gly463Ser)
c.1783G>A (p.Gly595Ser)
c.1816G>A (p.Gly606Ser)
c.1672G>A (p.Gly558Ser)
c.1531G>A (p.Gly511Ser)
14g.73276710T>ACA487257475NUMBc.1824A>T (p.Thr608=)
c.1680A>T (p.Thr560=)
c.1791A>T (p.Thr597=)
c.1239A>T (p.Thr413=)
c.1206A>T (p.Thr402=)
c.1647A>T (p.Thr549=)
c.1353A>T (p.Thr451=)
c.1392A>T (p.Thr464=)
c.1386A>T (p.Thr462=)
c.1782A>T (p.Thr594=)
c.1815A>T (p.Thr605=)
c.1671A>T (p.Thr557=)
c.1530A>T (p.Thr510=)
14g.73276710T>CCA487257477NUMBc.1824A>G (p.Thr608=)
c.1680A>G (p.Thr560=)
c.1791A>G (p.Thr597=)
c.1239A>G (p.Thr413=)
c.1206A>G (p.Thr402=)
c.1647A>G (p.Thr549=)
c.1353A>G (p.Thr451=)
c.1392A>G (p.Thr464=)
c.1386A>G (p.Thr462=)
c.1782A>G (p.Thr594=)
c.1815A>G (p.Thr605=)
c.1671A>G (p.Thr557=)
c.1530A>G (p.Thr510=)
 dbSNP gnomAD v2 gnomAD v4
14g.73276710T>GCA487257478NUMBc.1824A>C (p.Thr608=)
c.1680A>C (p.Thr560=)
c.1791A>C (p.Thr597=)
c.1239A>C (p.Thr413=)
c.1206A>C (p.Thr402=)
c.1647A>C (p.Thr549=)
c.1353A>C (p.Thr451=)
c.1392A>C (p.Thr464=)
c.1386A>C (p.Thr462=)
c.1782A>C (p.Thr594=)
c.1815A>C (p.Thr605=)
c.1671A>C (p.Thr557=)
c.1530A>C (p.Thr510=)
14g.73276710T=CA2146520905NUMBc.1824A= (p.Thr608=)
c.1680A= (p.Thr560=)
c.1791A= (p.Thr597=)
c.1239A= (p.Thr413=)
c.1206A= (p.Thr402=)
c.1647A= (p.Thr549=)
c.1353A= (p.Thr451=)
c.1392A= (p.Thr464=)
c.1386A= (p.Thr462=)
c.1782A= (p.Thr594=)
c.1815A= (p.Thr605=)
c.1671A= (p.Thr557=)
c.1530A= (p.Thr510=)
14g.73276711G>ACA7258640NUMBc.1823C>T (p.Thr608Ile)
c.1679C>T (p.Thr560Ile)
c.1790C>T (p.Thr597Ile)
c.1238C>T (p.Thr413Ile)
c.1205C>T (p.Thr402Ile)
c.1646C>T (p.Thr549Ile)
c.1352C>T (p.Thr451Ile)
c.1391C>T (p.Thr464Ile)
c.1385C>T (p.Thr462Ile)
c.1781C>T (p.Thr594Ile)
c.1814C>T (p.Thr605Ile)
c.1670C>T (p.Thr557Ile)
c.1529C>T (p.Thr510Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.73276711G>CCA390336106NUMBc.1823C>G (p.Thr608Arg)
c.1679C>G (p.Thr560Arg)
c.1790C>G (p.Thr597Arg)
c.1238C>G (p.Thr413Arg)
c.1205C>G (p.Thr402Arg)
c.1646C>G (p.Thr549Arg)
c.1352C>G (p.Thr451Arg)
c.1391C>G (p.Thr464Arg)
c.1385C>G (p.Thr462Arg)
c.1781C>G (p.Thr594Arg)
c.1814C>G (p.Thr605Arg)
c.1670C>G (p.Thr557Arg)
c.1529C>G (p.Thr510Arg)
14g.73276711G=CA2146520906NUMBc.1823C= (p.Thr608=)
c.1679C= (p.Thr560=)
c.1790C= (p.Thr597=)
c.1238C= (p.Thr413=)
c.1205C= (p.Thr402=)
c.1646C= (p.Thr549=)
c.1352C= (p.Thr451=)
c.1391C= (p.Thr464=)
c.1385C= (p.Thr462=)
c.1781C= (p.Thr594=)
c.1814C= (p.Thr605=)
c.1670C= (p.Thr557=)
c.1529C= (p.Thr510=)
14g.73276711G>TCA390336108NUMBc.1823C>A (p.Thr608Lys)
c.1679C>A (p.Thr560Lys)
c.1790C>A (p.Thr597Lys)
c.1238C>A (p.Thr413Lys)
c.1205C>A (p.Thr402Lys)
c.1646C>A (p.Thr549Lys)
c.1352C>A (p.Thr451Lys)
c.1391C>A (p.Thr464Lys)
c.1385C>A (p.Thr462Lys)
c.1781C>A (p.Thr594Lys)
c.1814C>A (p.Thr605Lys)
c.1670C>A (p.Thr557Lys)
c.1529C>A (p.Thr510Lys)
14g.73276712T>ACA390336110NUMBc.1822A>T (p.Thr608Ser)
c.1678A>T (p.Thr560Ser)
c.1789A>T (p.Thr597Ser)
c.1237A>T (p.Thr413Ser)
c.1204A>T (p.Thr402Ser)
c.1645A>T (p.Thr549Ser)
c.1351A>T (p.Thr451Ser)
c.1390A>T (p.Thr464Ser)
c.1384A>T (p.Thr462Ser)
c.1780A>T (p.Thr594Ser)
c.1813A>T (p.Thr605Ser)
c.1669A>T (p.Thr557Ser)
c.1528A>T (p.Thr510Ser)
14g.73276712T>CCA7258641NUMBc.1822A>G (p.Thr608Ala)
c.1678A>G (p.Thr560Ala)
c.1789A>G (p.Thr597Ala)
c.1237A>G (p.Thr413Ala)
c.1204A>G (p.Thr402Ala)
c.1645A>G (p.Thr549Ala)
c.1351A>G (p.Thr451Ala)
c.1390A>G (p.Thr464Ala)
c.1384A>G (p.Thr462Ala)
c.1780A>G (p.Thr594Ala)
c.1813A>G (p.Thr605Ala)
c.1669A>G (p.Thr557Ala)
c.1528A>G (p.Thr510Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.73276712T>GCA390336111NUMBc.1822A>C (p.Thr608Pro)
c.1678A>C (p.Thr560Pro)
c.1789A>C (p.Thr597Pro)
c.1237A>C (p.Thr413Pro)
c.1204A>C (p.Thr402Pro)
c.1645A>C (p.Thr549Pro)
c.1351A>C (p.Thr451Pro)
c.1390A>C (p.Thr464Pro)
c.1384A>C (p.Thr462Pro)
c.1780A>C (p.Thr594Pro)
c.1813A>C (p.Thr605Pro)
c.1669A>C (p.Thr557Pro)
c.1528A>C (p.Thr510Pro)
14g.73276712T=CA2146520907NUMBc.1822A= (p.Thr608=)
c.1678A= (p.Thr560=)
c.1789A= (p.Thr597=)
c.1237A= (p.Thr413=)
c.1204A= (p.Thr402=)
c.1645A= (p.Thr549=)
c.1351A= (p.Thr451=)
c.1390A= (p.Thr464=)
c.1384A= (p.Thr462=)
c.1780A= (p.Thr594=)
c.1813A= (p.Thr605=)
c.1669A= (p.Thr557=)
c.1528A= (p.Thr510=)
14g.73276713A>CCA487257493NUMBc.1821T>G (p.Pro607=)
c.1677T>G (p.Pro559=)
c.1788T>G (p.Pro596=)
c.1236T>G (p.Pro412=)
c.1203T>G (p.Pro401=)
c.1644T>G (p.Pro548=)
c.1350T>G (p.Pro450=)
c.1389T>G (p.Pro463=)
c.1383T>G (p.Pro461=)
c.1779T>G (p.Pro593=)
c.1812T>G (p.Pro604=)
c.1668T>G (p.Pro556=)
c.1527T>G (p.Pro509=)
14g.73276713A>GCA487257492NUMBc.1821T>C (p.Pro607=)
c.1677T>C (p.Pro559=)
c.1788T>C (p.Pro596=)
c.1236T>C (p.Pro412=)
c.1203T>C (p.Pro401=)
c.1644T>C (p.Pro548=)
c.1350T>C (p.Pro450=)
c.1389T>C (p.Pro463=)
c.1383T>C (p.Pro461=)
c.1779T>C (p.Pro593=)
c.1812T>C (p.Pro604=)
c.1668T>C (p.Pro556=)
c.1527T>C (p.Pro509=)
14g.73276713A>TCA487257491NUMBc.1821T>A (p.Pro607=)
c.1677T>A (p.Pro559=)
c.1788T>A (p.Pro596=)
c.1236T>A (p.Pro412=)
c.1203T>A (p.Pro401=)
c.1644T>A (p.Pro548=)
c.1350T>A (p.Pro450=)
c.1389T>A (p.Pro463=)
c.1383T>A (p.Pro461=)
c.1779T>A (p.Pro593=)
c.1812T>A (p.Pro604=)
c.1668T>A (p.Pro556=)
c.1527T>A (p.Pro509=)
14g.73276714G>ACA390336113NUMBc.1820C>T (p.Pro607Leu)
c.1676C>T (p.Pro559Leu)
c.1787C>T (p.Pro596Leu)
c.1235C>T (p.Pro412Leu)
c.1202C>T (p.Pro401Leu)
c.1643C>T (p.Pro548Leu)
c.1349C>T (p.Pro450Leu)
c.1388C>T (p.Pro463Leu)
c.1382C>T (p.Pro461Leu)
c.1778C>T (p.Pro593Leu)
c.1811C>T (p.Pro604Leu)
c.1667C>T (p.Pro556Leu)
c.1526C>T (p.Pro509Leu)
14g.73276714G>CCA7258642NUMBc.1820C>G (p.Pro607Arg)
c.1676C>G (p.Pro559Arg)
c.1787C>G (p.Pro596Arg)
c.1235C>G (p.Pro412Arg)
c.1202C>G (p.Pro401Arg)
c.1643C>G (p.Pro548Arg)
c.1349C>G (p.Pro450Arg)
c.1388C>G (p.Pro463Arg)
c.1382C>G (p.Pro461Arg)
c.1778C>G (p.Pro593Arg)
c.1811C>G (p.Pro604Arg)
c.1667C>G (p.Pro556Arg)
c.1526C>G (p.Pro509Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.73276714G=CA2146520908NUMBc.1820C= (p.Pro607=)
c.1676C= (p.Pro559=)
c.1787C= (p.Pro596=)
c.1235C= (p.Pro412=)
c.1202C= (p.Pro401=)
c.1643C= (p.Pro548=)
c.1349C= (p.Pro450=)
c.1388C= (p.Pro463=)
c.1382C= (p.Pro461=)
c.1778C= (p.Pro593=)
c.1811C= (p.Pro604=)
c.1667C= (p.Pro556=)
c.1526C= (p.Pro509=)
14g.73276714G>TCA390336116NUMBc.1820C>A (p.Pro607His)
c.1676C>A (p.Pro559His)
c.1787C>A (p.Pro596His)
c.1235C>A (p.Pro412His)
c.1202C>A (p.Pro401His)
c.1643C>A (p.Pro548His)
c.1349C>A (p.Pro450His)
c.1388C>A (p.Pro463His)
c.1382C>A (p.Pro461His)
c.1778C>A (p.Pro593His)
c.1811C>A (p.Pro604His)
c.1667C>A (p.Pro556His)
c.1526C>A (p.Pro509His)
14g.73276715G>ACA390336119NUMBc.1819C>T (p.Pro607Ser)
c.1675C>T (p.Pro559Ser)
c.1786C>T (p.Pro596Ser)
c.1234C>T (p.Pro412Ser)
c.1201C>T (p.Pro401Ser)
c.1642C>T (p.Pro548Ser)
c.1348C>T (p.Pro450Ser)
c.1387C>T (p.Pro463Ser)
c.1381C>T (p.Pro461Ser)
c.1777C>T (p.Pro593Ser)
c.1810C>T (p.Pro604Ser)
c.1666C>T (p.Pro556Ser)
c.1525C>T (p.Pro509Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.73276715G>CCA390336123NUMBc.1819C>G (p.Pro607Ala)
c.1675C>G (p.Pro559Ala)
c.1786C>G (p.Pro596Ala)
c.1234C>G (p.Pro412Ala)
c.1201C>G (p.Pro401Ala)
c.1642C>G (p.Pro548Ala)
c.1348C>G (p.Pro450Ala)
c.1387C>G (p.Pro463Ala)
c.1381C>G (p.Pro461Ala)
c.1777C>G (p.Pro593Ala)
c.1810C>G (p.Pro604Ala)
c.1666C>G (p.Pro556Ala)
c.1525C>G (p.Pro509Ala)
 dbSNP gnomAD v2 gnomAD v4
14g.73276715G=CA2146520909NUMBc.1819C= (p.Pro607=)
c.1675C= (p.Pro559=)
c.1786C= (p.Pro596=)
c.1234C= (p.Pro412=)
c.1201C= (p.Pro401=)
c.1642C= (p.Pro548=)
c.1348C= (p.Pro450=)
c.1387C= (p.Pro463=)
c.1381C= (p.Pro461=)
c.1777C= (p.Pro593=)
c.1810C= (p.Pro604=)
c.1666C= (p.Pro556=)
c.1525C= (p.Pro509=)
14g.73276715G>TCA390336120NUMBc.1819C>A (p.Pro607Thr)
c.1675C>A (p.Pro559Thr)
c.1786C>A (p.Pro596Thr)
c.1234C>A (p.Pro412Thr)
c.1201C>A (p.Pro401Thr)
c.1642C>A (p.Pro548Thr)
c.1348C>A (p.Pro450Thr)
c.1387C>A (p.Pro463Thr)
c.1381C>A (p.Pro461Thr)
c.1777C>A (p.Pro593Thr)
c.1810C>A (p.Pro604Thr)
c.1666C>A (p.Pro556Thr)
c.1525C>A (p.Pro509Thr)
14g.73276716A=CA2146520910NUMBc.1818T= (p.Val606=)
c.1674T= (p.Val558=)
c.1785T= (p.Val595=)
c.1233T= (p.Val411=)
c.1200T= (p.Val400=)
c.1641T= (p.Val547=)
c.1347T= (p.Val449=)
c.1386T= (p.Val462=)
c.1380T= (p.Val460=)
c.1776T= (p.Val592=)
c.1809T= (p.Val603=)
c.1665T= (p.Val555=)
c.1524T= (p.Val508=)
14g.73276716A>CCA487257499NUMBc.1818T>G (p.Val606=)
c.1674T>G (p.Val558=)
c.1785T>G (p.Val595=)
c.1233T>G (p.Val411=)
c.1200T>G (p.Val400=)
c.1641T>G (p.Val547=)
c.1347T>G (p.Val449=)
c.1386T>G (p.Val462=)
c.1380T>G (p.Val460=)
c.1776T>G (p.Val592=)
c.1809T>G (p.Val603=)
c.1665T>G (p.Val555=)
c.1524T>G (p.Val508=)
 dbSNP
14g.73276716A>GCA487257500NUMBc.1818T>C (p.Val606=)
c.1674T>C (p.Val558=)
c.1785T>C (p.Val595=)
c.1233T>C (p.Val411=)
c.1200T>C (p.Val400=)
c.1641T>C (p.Val547=)
c.1347T>C (p.Val449=)
c.1386T>C (p.Val462=)
c.1380T>C (p.Val460=)
c.1776T>C (p.Val592=)
c.1809T>C (p.Val603=)
c.1665T>C (p.Val555=)
c.1524T>C (p.Val508=)
14g.73276716A>TCA487257501NUMBc.1818T>A (p.Val606=)
c.1674T>A (p.Val558=)
c.1785T>A (p.Val595=)
c.1233T>A (p.Val411=)
c.1200T>A (p.Val400=)
c.1641T>A (p.Val547=)
c.1347T>A (p.Val449=)
c.1386T>A (p.Val462=)
c.1380T>A (p.Val460=)
c.1776T>A (p.Val592=)
c.1809T>A (p.Val603=)
c.1665T>A (p.Val555=)
c.1524T>A (p.Val508=)
14g.73276717A=CA2146520911NUMBc.1817T= (p.Val606=)
c.1673T= (p.Val558=)
c.1784T= (p.Val595=)
c.1232T= (p.Val411=)
c.1199T= (p.Val400=)
c.1640T= (p.Val547=)
c.1346T= (p.Val449=)
c.1385T= (p.Val462=)
c.1379T= (p.Val460=)
c.1775T= (p.Val592=)
c.1808T= (p.Val603=)
c.1664T= (p.Val555=)
c.1523T= (p.Val508=)
14g.73276717A>CCA7258643NUMBc.1817T>G (p.Val606Gly)
c.1673T>G (p.Val558Gly)
c.1784T>G (p.Val595Gly)
c.1232T>G (p.Val411Gly)
c.1199T>G (p.Val400Gly)
c.1640T>G (p.Val547Gly)
c.1346T>G (p.Val449Gly)
c.1385T>G (p.Val462Gly)
c.1379T>G (p.Val460Gly)
c.1775T>G (p.Val592Gly)
c.1808T>G (p.Val603Gly)
c.1664T>G (p.Val555Gly)
c.1523T>G (p.Val508Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.73276717A>GCA262630519NUMBc.1817T>C (p.Val606Ala)
c.1673T>C (p.Val558Ala)
c.1784T>C (p.Val595Ala)
c.1232T>C (p.Val411Ala)
c.1199T>C (p.Val400Ala)
c.1640T>C (p.Val547Ala)
c.1346T>C (p.Val449Ala)
c.1385T>C (p.Val462Ala)
c.1379T>C (p.Val460Ala)
c.1775T>C (p.Val592Ala)
c.1808T>C (p.Val603Ala)
c.1664T>C (p.Val555Ala)
c.1523T>C (p.Val508Ala)
 dbSNP gnomAD v4
14g.73276717A>TCA390336130NUMBc.1817T>A (p.Val606Asp)
c.1673T>A (p.Val558Asp)
c.1784T>A (p.Val595Asp)
c.1232T>A (p.Val411Asp)
c.1199T>A (p.Val400Asp)
c.1640T>A (p.Val547Asp)
c.1346T>A (p.Val449Asp)
c.1385T>A (p.Val462Asp)
c.1379T>A (p.Val460Asp)
c.1775T>A (p.Val592Asp)
c.1808T>A (p.Val603Asp)
c.1664T>A (p.Val555Asp)
c.1523T>A (p.Val508Asp)
14g.73276718C>ACA390336135NUMBc.1816G>T (p.Val606Phe)
c.1672G>T (p.Val558Phe)
c.1783G>T (p.Val595Phe)
c.1231G>T (p.Val411Phe)
c.1198G>T (p.Val400Phe)
c.1639G>T (p.Val547Phe)
c.1345G>T (p.Val449Phe)
c.1384G>T (p.Val462Phe)
c.1378G>T (p.Val460Phe)
c.1774G>T (p.Val592Phe)
c.1807G>T (p.Val603Phe)
c.1663G>T (p.Val555Phe)
c.1522G>T (p.Val508Phe)
14g.73276718C>GCA390336137NUMBc.1816G>C (p.Val606Leu)
c.1672G>C (p.Val558Leu)
c.1783G>C (p.Val595Leu)
c.1231G>C (p.Val411Leu)
c.1198G>C (p.Val400Leu)
c.1639G>C (p.Val547Leu)
c.1345G>C (p.Val449Leu)
c.1384G>C (p.Val462Leu)
c.1378G>C (p.Val460Leu)
c.1774G>C (p.Val592Leu)
c.1807G>C (p.Val603Leu)
c.1663G>C (p.Val555Leu)
c.1522G>C (p.Val508Leu)
14g.73276718C>TCA390336140NUMBc.1816G>A (p.Val606Ile)
c.1672G>A (p.Val558Ile)
c.1783G>A (p.Val595Ile)
c.1231G>A (p.Val411Ile)
c.1198G>A (p.Val400Ile)
c.1639G>A (p.Val547Ile)
c.1345G>A (p.Val449Ile)
c.1384G>A (p.Val462Ile)
c.1378G>A (p.Val460Ile)
c.1774G>A (p.Val592Ile)
c.1807G>A (p.Val603Ile)
c.1663G>A (p.Val555Ile)
c.1522G>A (p.Val508Ile)
14g.73276719C>ACA390336141NUMBc.1815G>T (p.Glu605Asp)
c.1671G>T (p.Glu557Asp)
c.1782G>T (p.Glu594Asp)
c.1230G>T (p.Glu410Asp)
c.1197G>T (p.Glu399Asp)
c.1638G>T (p.Glu546Asp)
c.1344G>T (p.Glu448Asp)
c.1383G>T (p.Glu461Asp)
c.1377G>T (p.Glu459Asp)
c.1773G>T (p.Glu591Asp)
c.1806G>T (p.Glu602Asp)
c.1662G>T (p.Glu554Asp)
c.1521G>T (p.Glu507Asp)
14g.73276719C=CA2146520912NUMBc.1815G= (p.Glu605=)
c.1671G= (p.Glu557=)
c.1782G= (p.Glu594=)
c.1230G= (p.Glu410=)
c.1197G= (p.Glu399=)
c.1638G= (p.Glu546=)
c.1344G= (p.Glu448=)
c.1383G= (p.Glu461=)
c.1377G= (p.Glu459=)
c.1773G= (p.Glu591=)
c.1806G= (p.Glu602=)
c.1662G= (p.Glu554=)
c.1521G= (p.Glu507=)
14g.73276719C>GCA390336143NUMBc.1815G>C (p.Glu605Asp)
c.1671G>C (p.Glu557Asp)
c.1782G>C (p.Glu594Asp)
c.1230G>C (p.Glu410Asp)
c.1197G>C (p.Glu399Asp)
c.1638G>C (p.Glu546Asp)
c.1344G>C (p.Glu448Asp)
c.1383G>C (p.Glu461Asp)
c.1377G>C (p.Glu459Asp)
c.1773G>C (p.Glu591Asp)
c.1806G>C (p.Glu602Asp)
c.1662G>C (p.Glu554Asp)
c.1521G>C (p.Glu507Asp)
 gnomAD v4
14g.73276719C>TCA487257515NUMBc.1815G>A (p.Glu605=)
c.1671G>A (p.Glu557=)
c.1782G>A (p.Glu594=)
c.1230G>A (p.Glu410=)
c.1197G>A (p.Glu399=)
c.1638G>A (p.Glu546=)
c.1344G>A (p.Glu448=)
c.1383G>A (p.Glu461=)
c.1377G>A (p.Glu459=)
c.1773G>A (p.Glu591=)
c.1806G>A (p.Glu602=)
c.1662G>A (p.Glu554=)
c.1521G>A (p.Glu507=)
 dbSNP
14g.73276720T>ACA390336146NUMBc.1814A>T (p.Glu605Val)
c.1670A>T (p.Glu557Val)
c.1781A>T (p.Glu594Val)
c.1229A>T (p.Glu410Val)
c.1196A>T (p.Glu399Val)
c.1637A>T (p.Glu546Val)
c.1343A>T (p.Glu448Val)
c.1382A>T (p.Glu461Val)
c.1376A>T (p.Glu459Val)
c.1772A>T (p.Glu591Val)
c.1805A>T (p.Glu602Val)
c.1661A>T (p.Glu554Val)
c.1520A>T (p.Glu507Val)
14g.73276720T>CCA390336147NUMBc.1814A>G (p.Glu605Gly)
c.1670A>G (p.Glu557Gly)
c.1781A>G (p.Glu594Gly)
c.1229A>G (p.Glu410Gly)
c.1196A>G (p.Glu399Gly)
c.1637A>G (p.Glu546Gly)
c.1343A>G (p.Glu448Gly)
c.1382A>G (p.Glu461Gly)
c.1376A>G (p.Glu459Gly)
c.1772A>G (p.Glu591Gly)
c.1805A>G (p.Glu602Gly)
c.1661A>G (p.Glu554Gly)
c.1520A>G (p.Glu507Gly)
 dbSNP gnomAD v4
14g.73276720T>GCA390336152NUMBc.1814A>C (p.Glu605Ala)
c.1670A>C (p.Glu557Ala)
c.1781A>C (p.Glu594Ala)
c.1229A>C (p.Glu410Ala)
c.1196A>C (p.Glu399Ala)
c.1637A>C (p.Glu546Ala)
c.1343A>C (p.Glu448Ala)
c.1382A>C (p.Glu461Ala)
c.1376A>C (p.Glu459Ala)
c.1772A>C (p.Glu591Ala)
c.1805A>C (p.Glu602Ala)
c.1661A>C (p.Glu554Ala)
c.1520A>C (p.Glu507Ala)
14g.73276720T=CA2146520913NUMBc.1814A= (p.Glu605=)
c.1670A= (p.Glu557=)
c.1781A= (p.Glu594=)
c.1229A= (p.Glu410=)
c.1196A= (p.Glu399=)
c.1637A= (p.Glu546=)
c.1343A= (p.Glu448=)
c.1382A= (p.Glu461=)
c.1376A= (p.Glu459=)
c.1772A= (p.Glu591=)
c.1805A= (p.Glu602=)
c.1661A= (p.Glu554=)
c.1520A= (p.Glu507=)
14g.73276721C>ACA390336175NUMBc.1813G>T (p.Glu605Ter)
c.1669G>T (p.Glu557Ter)
c.1780G>T (p.Glu594Ter)
c.1228G>T (p.Glu410Ter)
c.1195G>T (p.Glu399Ter)
c.1636G>T (p.Glu546Ter)
c.1342G>T (p.Glu448Ter)
c.1381G>T (p.Glu461Ter)
c.1375G>T (p.Glu459Ter)
c.1771G>T (p.Glu591Ter)
c.1804G>T (p.Glu602Ter)
c.1660G>T (p.Glu554Ter)
c.1519G>T (p.Glu507Ter)
14g.73276721C>GCA390336166NUMBc.1813G>C (p.Glu605Gln)
c.1669G>C (p.Glu557Gln)
c.1780G>C (p.Glu594Gln)
c.1228G>C (p.Glu410Gln)
c.1195G>C (p.Glu399Gln)
c.1636G>C (p.Glu546Gln)
c.1342G>C (p.Glu448Gln)
c.1381G>C (p.Glu461Gln)
c.1375G>C (p.Glu459Gln)
c.1771G>C (p.Glu591Gln)
c.1804G>C (p.Glu602Gln)
c.1660G>C (p.Glu554Gln)
c.1519G>C (p.Glu507Gln)
14g.73276721C>TCA390336154NUMBc.1813G>A (p.Glu605Lys)
c.1669G>A (p.Glu557Lys)
c.1780G>A (p.Glu594Lys)
c.1228G>A (p.Glu410Lys)
c.1195G>A (p.Glu399Lys)
c.1636G>A (p.Glu546Lys)
c.1342G>A (p.Glu448Lys)
c.1381G>A (p.Glu461Lys)
c.1375G>A (p.Glu459Lys)
c.1771G>A (p.Glu591Lys)
c.1804G>A (p.Glu602Lys)
c.1660G>A (p.Glu554Lys)
c.1519G>A (p.Glu507Lys)
 COSMIC
14g.73276722T>ACA487257522NUMBc.1812A>T (p.Thr604=)
c.1668A>T (p.Thr556=)
c.1779A>T (p.Thr593=)
c.1227A>T (p.Thr409=)
c.1194A>T (p.Thr398=)
c.1635A>T (p.Thr545=)
c.1341A>T (p.Thr447=)
c.1380A>T (p.Thr460=)
c.1374A>T (p.Thr458=)
c.1770A>T (p.Thr590=)
c.1803A>T (p.Thr601=)
c.1659A>T (p.Thr553=)
c.1518A>T (p.Thr506=)
14g.73276722T>CCA487257524NUMBc.1812A>G (p.Thr604=)
c.1668A>G (p.Thr556=)
c.1779A>G (p.Thr593=)
c.1227A>G (p.Thr409=)
c.1194A>G (p.Thr398=)
c.1635A>G (p.Thr545=)
c.1341A>G (p.Thr447=)
c.1380A>G (p.Thr460=)
c.1374A>G (p.Thr458=)
c.1770A>G (p.Thr590=)
c.1803A>G (p.Thr601=)
c.1659A>G (p.Thr553=)
c.1518A>G (p.Thr506=)
 dbSNP
14g.73276722T>GCA487257528NUMBc.1812A>C (p.Thr604=)
c.1668A>C (p.Thr556=)
c.1779A>C (p.Thr593=)
c.1227A>C (p.Thr409=)
c.1194A>C (p.Thr398=)
c.1635A>C (p.Thr545=)
c.1341A>C (p.Thr447=)
c.1380A>C (p.Thr460=)
c.1374A>C (p.Thr458=)
c.1770A>C (p.Thr590=)
c.1803A>C (p.Thr601=)
c.1659A>C (p.Thr553=)
c.1518A>C (p.Thr506=)
14g.73276722T=CA2146520914NUMBc.1812A= (p.Thr604=)
c.1668A= (p.Thr556=)
c.1779A= (p.Thr593=)
c.1227A= (p.Thr409=)
c.1194A= (p.Thr398=)
c.1635A= (p.Thr545=)
c.1341A= (p.Thr447=)
c.1380A= (p.Thr460=)
c.1374A= (p.Thr458=)
c.1770A= (p.Thr590=)
c.1803A= (p.Thr601=)
c.1659A= (p.Thr553=)
c.1518A= (p.Thr506=)
14g.73276723G>ACA390336178NUMBc.1811C>T (p.Thr604Ile)
c.1667C>T (p.Thr556Ile)
c.1778C>T (p.Thr593Ile)
c.1226C>T (p.Thr409Ile)
c.1193C>T (p.Thr398Ile)
c.1634C>T (p.Thr545Ile)
c.1340C>T (p.Thr447Ile)
c.1379C>T (p.Thr460Ile)
c.1373C>T (p.Thr458Ile)
c.1769C>T (p.Thr590Ile)
c.1802C>T (p.Thr601Ile)
c.1658C>T (p.Thr553Ile)
c.1517C>T (p.Thr506Ile)
 dbSNP gnomAD v4
14g.73276723G>CCA390336180NUMBc.1811C>G (p.Thr604Arg)
c.1667C>G (p.Thr556Arg)
c.1778C>G (p.Thr593Arg)
c.1226C>G (p.Thr409Arg)
c.1193C>G (p.Thr398Arg)
c.1634C>G (p.Thr545Arg)
c.1340C>G (p.Thr447Arg)
c.1379C>G (p.Thr460Arg)
c.1373C>G (p.Thr458Arg)
c.1769C>G (p.Thr590Arg)
c.1802C>G (p.Thr601Arg)
c.1658C>G (p.Thr553Arg)
c.1517C>G (p.Thr506Arg)
 dbSNP gnomAD v3 gnomAD v4
14g.73276723G=CA2146520915NUMBc.1811C= (p.Thr604=)
c.1667C= (p.Thr556=)
c.1778C= (p.Thr593=)
c.1226C= (p.Thr409=)
c.1193C= (p.Thr398=)
c.1634C= (p.Thr545=)
c.1340C= (p.Thr447=)
c.1379C= (p.Thr460=)
c.1373C= (p.Thr458=)
c.1769C= (p.Thr590=)
c.1802C= (p.Thr601=)
c.1658C= (p.Thr553=)
c.1517C= (p.Thr506=)
14g.73276723G>TCA390336181NUMBc.1811C>A (p.Thr604Lys)
c.1667C>A (p.Thr556Lys)
c.1778C>A (p.Thr593Lys)
c.1226C>A (p.Thr409Lys)
c.1193C>A (p.Thr398Lys)
c.1634C>A (p.Thr545Lys)
c.1340C>A (p.Thr447Lys)
c.1379C>A (p.Thr460Lys)
c.1373C>A (p.Thr458Lys)
c.1769C>A (p.Thr590Lys)
c.1802C>A (p.Thr601Lys)
c.1658C>A (p.Thr553Lys)
c.1517C>A (p.Thr506Lys)
14g.73276724T>ACA390336182NUMBc.1810A>T (p.Thr604Ser)
c.1666A>T (p.Thr556Ser)
c.1777A>T (p.Thr593Ser)
c.1225A>T (p.Thr409Ser)
c.1192A>T (p.Thr398Ser)
c.1633A>T (p.Thr545Ser)
c.1339A>T (p.Thr447Ser)
c.1378A>T (p.Thr460Ser)
c.1372A>T (p.Thr458Ser)
c.1768A>T (p.Thr590Ser)
c.1801A>T (p.Thr601Ser)
c.1657A>T (p.Thr553Ser)
c.1516A>T (p.Thr506Ser)
 gnomAD v4
14g.73276724T>CCA390336183NUMBc.1810A>G (p.Thr604Ala)
c.1666A>G (p.Thr556Ala)
c.1777A>G (p.Thr593Ala)
c.1225A>G (p.Thr409Ala)
c.1192A>G (p.Thr398Ala)
c.1633A>G (p.Thr545Ala)
c.1339A>G (p.Thr447Ala)
c.1378A>G (p.Thr460Ala)
c.1372A>G (p.Thr458Ala)
c.1768A>G (p.Thr590Ala)
c.1801A>G (p.Thr601Ala)
c.1657A>G (p.Thr553Ala)
c.1516A>G (p.Thr506Ala)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
14g.73276724T>GCA390336186NUMBc.1810A>C (p.Thr604Pro)
c.1666A>C (p.Thr556Pro)
c.1777A>C (p.Thr593Pro)
c.1225A>C (p.Thr409Pro)
c.1192A>C (p.Thr398Pro)
c.1633A>C (p.Thr545Pro)
c.1339A>C (p.Thr447Pro)
c.1378A>C (p.Thr460Pro)
c.1372A>C (p.Thr458Pro)
c.1768A>C (p.Thr590Pro)
c.1801A>C (p.Thr601Pro)
c.1657A>C (p.Thr553Pro)
c.1516A>C (p.Thr506Pro)
14g.73276724T=CA2146520916NUMBc.1810A= (p.Thr604=)
c.1666A= (p.Thr556=)
c.1777A= (p.Thr593=)
c.1225A= (p.Thr409=)
c.1192A= (p.Thr398=)
c.1633A= (p.Thr545=)
c.1339A= (p.Thr447=)
c.1378A= (p.Thr460=)
c.1372A= (p.Thr458=)
c.1768A= (p.Thr590=)
c.1801A= (p.Thr601=)
c.1657A= (p.Thr553=)
c.1516A= (p.Thr506=)
14g.73276725A=CA2146520917NUMBc.1809T= (p.His603=)
c.1665T= (p.His555=)
c.1776T= (p.His592=)
c.1224T= (p.His408=)
c.1191T= (p.His397=)
c.1632T= (p.His544=)
c.1338T= (p.His446=)
c.1377T= (p.His459=)
c.1371T= (p.His457=)
c.1767T= (p.His589=)
c.1800T= (p.His600=)
c.1656T= (p.His552=)
c.1515T= (p.His505=)
14g.73276725A>CCA390336188NUMBc.1809T>G (p.His603Gln)
c.1665T>G (p.His555Gln)
c.1776T>G (p.His592Gln)
c.1224T>G (p.His408Gln)
c.1191T>G (p.His397Gln)
c.1632T>G (p.His544Gln)
c.1338T>G (p.His446Gln)
c.1377T>G (p.His459Gln)
c.1371T>G (p.His457Gln)
c.1767T>G (p.His589Gln)
c.1800T>G (p.His600Gln)
c.1656T>G (p.His552Gln)
c.1515T>G (p.His505Gln)
14g.73276725A>GCA7258644NUMBc.1809T>C (p.His603=)
c.1665T>C (p.His555=)
c.1776T>C (p.His592=)
c.1224T>C (p.His408=)
c.1191T>C (p.His397=)
c.1632T>C (p.His544=)
c.1338T>C (p.His446=)
c.1377T>C (p.His459=)
c.1371T>C (p.His457=)
c.1767T>C (p.His589=)
c.1800T>C (p.His600=)
c.1656T>C (p.His552=)
c.1515T>C (p.His505=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.73276725A>TCA390336190NUMBc.1809T>A (p.His603Gln)
c.1665T>A (p.His555Gln)
c.1776T>A (p.His592Gln)
c.1224T>A (p.His408Gln)
c.1191T>A (p.His397Gln)
c.1632T>A (p.His544Gln)
c.1338T>A (p.His446Gln)
c.1377T>A (p.His459Gln)
c.1371T>A (p.His457Gln)
c.1767T>A (p.His589Gln)
c.1800T>A (p.His600Gln)
c.1656T>A (p.His552Gln)
c.1515T>A (p.His505Gln)
14g.73276725_73276726insCCA2802119535NUMBc.1808_1809insG (p.His603GlnfsTer15)
c.1664_1665insG (p.His555GlnfsTer15)
c.1775_1776insG (p.His592GlnfsTer15)
c.1223_1224insG (p.His408GlnfsTer15)
c.1190_1191insG (p.His397GlnfsTer15)
c.1631_1632insG (p.His544GlnfsTer15)
c.1337_1338insG (p.His446GlnfsTer15)
c.1376_1377insG (p.His459GlnfsTer15)
c.1370_1371insG (p.His457GlnfsTer15)
c.1766_1767insG (p.His589GlnfsTer15)
c.1799_1800insG (p.His600GlnfsTer15)
c.1655_1656insG (p.His552GlnfsTer15)
c.1514_1515insG (p.His505GlnfsTer15)
14g.73276726T>ACA390336191NUMBc.1808A>T (p.His603Leu)
c.1664A>T (p.His555Leu)
c.1775A>T (p.His592Leu)
c.1223A>T (p.His408Leu)
c.1190A>T (p.His397Leu)
c.1631A>T (p.His544Leu)
c.1337A>T (p.His446Leu)
c.1376A>T (p.His459Leu)
c.1370A>T (p.His457Leu)
c.1766A>T (p.His589Leu)
c.1799A>T (p.His600Leu)
c.1655A>T (p.His552Leu)
c.1514A>T (p.His505Leu)
14g.73276726T>CCA390336193NUMBc.1808A>G (p.His603Arg)
c.1664A>G (p.His555Arg)
c.1775A>G (p.His592Arg)
c.1223A>G (p.His408Arg)
c.1190A>G (p.His397Arg)
c.1631A>G (p.His544Arg)
c.1337A>G (p.His446Arg)
c.1376A>G (p.His459Arg)
c.1370A>G (p.His457Arg)
c.1766A>G (p.His589Arg)
c.1799A>G (p.His600Arg)
c.1655A>G (p.His552Arg)
c.1514A>G (p.His505Arg)
14g.73276726T>GCA390336195NUMBc.1808A>C (p.His603Pro)
c.1664A>C (p.His555Pro)
c.1775A>C (p.His592Pro)
c.1223A>C (p.His408Pro)
c.1190A>C (p.His397Pro)
c.1631A>C (p.His544Pro)
c.1337A>C (p.His446Pro)
c.1376A>C (p.His459Pro)
c.1370A>C (p.His457Pro)
c.1766A>C (p.His589Pro)
c.1799A>C (p.His600Pro)
c.1655A>C (p.His552Pro)
c.1514A>C (p.His505Pro)
14g.73276727G>ACA390336204NUMBc.1807C>T (p.His603Tyr)
c.1663C>T (p.His555Tyr)
c.1774C>T (p.His592Tyr)
c.1222C>T (p.His408Tyr)
c.1189C>T (p.His397Tyr)
c.1630C>T (p.His544Tyr)
c.1336C>T (p.His446Tyr)
c.1375C>T (p.His459Tyr)
c.1369C>T (p.His457Tyr)
c.1765C>T (p.His589Tyr)
c.1798C>T (p.His600Tyr)
c.1654C>T (p.His552Tyr)
c.1513C>T (p.His505Tyr)
14g.73276727G>CCA390336203NUMBc.1807C>G (p.His603Asp)
c.1663C>G (p.His555Asp)
c.1774C>G (p.His592Asp)
c.1222C>G (p.His408Asp)
c.1189C>G (p.His397Asp)
c.1630C>G (p.His544Asp)
c.1336C>G (p.His446Asp)
c.1375C>G (p.His459Asp)
c.1369C>G (p.His457Asp)
c.1765C>G (p.His589Asp)
c.1798C>G (p.His600Asp)
c.1654C>G (p.His552Asp)
c.1513C>G (p.His505Asp)
14g.73276727G>TCA390336201NUMBc.1807C>A (p.His603Asn)
c.1663C>A (p.His555Asn)
c.1774C>A (p.His592Asn)
c.1222C>A (p.His408Asn)
c.1189C>A (p.His397Asn)
c.1630C>A (p.His544Asn)
c.1336C>A (p.His446Asn)
c.1375C>A (p.His459Asn)
c.1369C>A (p.His457Asn)
c.1765C>A (p.His589Asn)
c.1798C>A (p.His600Asn)
c.1654C>A (p.His552Asn)
c.1513C>A (p.His505Asn)
14g.73276728C>ACA390336205NUMBc.1806G>T (p.Arg602Ser)
c.1662G>T (p.Arg554Ser)
c.1773G>T (p.Arg591Ser)
c.1221G>T (p.Arg407Ser)
c.1188G>T (p.Arg396Ser)
c.1629G>T (p.Arg543Ser)
c.1335G>T (p.Arg445Ser)
c.1374G>T (p.Arg458Ser)
c.1368G>T (p.Arg456Ser)
c.1764G>T (p.Arg588Ser)
c.1797G>T (p.Arg599Ser)
c.1653G>T (p.Arg551Ser)
c.1512G>T (p.Arg504Ser)
14g.73276728C>GCA390336206NUMBc.1806G>C (p.Arg602Ser)
c.1662G>C (p.Arg554Ser)
c.1773G>C (p.Arg591Ser)
c.1221G>C (p.Arg407Ser)
c.1188G>C (p.Arg396Ser)
c.1629G>C (p.Arg543Ser)
c.1335G>C (p.Arg445Ser)
c.1374G>C (p.Arg458Ser)
c.1368G>C (p.Arg456Ser)
c.1764G>C (p.Arg588Ser)
c.1797G>C (p.Arg599Ser)
c.1653G>C (p.Arg551Ser)
c.1512G>C (p.Arg504Ser)
14g.73276728C>TCA487257554NUMBc.1806G>A (p.Arg602=)
c.1662G>A (p.Arg554=)
c.1773G>A (p.Arg591=)
c.1221G>A (p.Arg407=)
c.1188G>A (p.Arg396=)
c.1629G>A (p.Arg543=)
c.1335G>A (p.Arg445=)
c.1374G>A (p.Arg458=)
c.1368G>A (p.Arg456=)
c.1764G>A (p.Arg588=)
c.1797G>A (p.Arg599=)
c.1653G>A (p.Arg551=)
c.1512G>A (p.Arg504=)
14g.73276729delCA964637019NUMBc.1806del (p.Arg602SerfsTer22)
c.1662del (p.Arg554SerfsTer22)
c.1773del (p.Arg591SerfsTer22)
c.1221del (p.Arg407SerfsTer22)
c.1188del (p.Arg396SerfsTer22)
c.1629del (p.Arg543SerfsTer22)
c.1335del (p.Arg445SerfsTer22)
c.1374del (p.Arg458SerfsTer22)
c.1368del (p.Arg456SerfsTer22)
c.1764del (p.Arg588SerfsTer22)
c.1797del (p.Arg599SerfsTer22)
c.1653del (p.Arg551SerfsTer22)
c.1512del (p.Arg504SerfsTer22)
 gnomAD v3 gnomAD v4
14g.73276729C>ACA390336208NUMBc.1805G>T (p.Arg602Met)
c.1661G>T (p.Arg554Met)
c.1772G>T (p.Arg591Met)
c.1220G>T (p.Arg407Met)
c.1187G>T (p.Arg396Met)
c.1628G>T (p.Arg543Met)
c.1334G>T (p.Arg445Met)
c.1373G>T (p.Arg458Met)
c.1367G>T (p.Arg456Met)
c.1763G>T (p.Arg588Met)
c.1796G>T (p.Arg599Met)
c.1652G>T (p.Arg551Met)
c.1511G>T (p.Arg504Met)
 COSMIC
14g.73276729C=CA2146520918NUMBc.1805G= (p.Arg602=)
c.1661G= (p.Arg554=)
c.1772G= (p.Arg591=)
c.1220G= (p.Arg407=)
c.1187G= (p.Arg396=)
c.1628G= (p.Arg543=)
c.1334G= (p.Arg445=)
c.1373G= (p.Arg458=)
c.1367G= (p.Arg456=)
c.1763G= (p.Arg588=)
c.1796G= (p.Arg599=)
c.1652G= (p.Arg551=)
c.1511G= (p.Arg504=)
14g.73276729C>GCA390336214NUMBc.1805G>C (p.Arg602Thr)
c.1661G>C (p.Arg554Thr)
c.1772G>C (p.Arg591Thr)
c.1220G>C (p.Arg407Thr)
c.1187G>C (p.Arg396Thr)
c.1628G>C (p.Arg543Thr)
c.1334G>C (p.Arg445Thr)
c.1373G>C (p.Arg458Thr)
c.1367G>C (p.Arg456Thr)
c.1763G>C (p.Arg588Thr)
c.1796G>C (p.Arg599Thr)
c.1652G>C (p.Arg551Thr)
c.1511G>C (p.Arg504Thr)
14g.73276729C>TCA390336216NUMBc.1805G>A (p.Arg602Lys)
c.1661G>A (p.Arg554Lys)
c.1772G>A (p.Arg591Lys)
c.1220G>A (p.Arg407Lys)
c.1187G>A (p.Arg396Lys)
c.1628G>A (p.Arg543Lys)
c.1334G>A (p.Arg445Lys)
c.1373G>A (p.Arg458Lys)
c.1367G>A (p.Arg456Lys)
c.1763G>A (p.Arg588Lys)
c.1796G>A (p.Arg599Lys)
c.1652G>A (p.Arg551Lys)
c.1511G>A (p.Arg504Lys)
 dbSNP gnomAD v3 gnomAD v4
14g.73276730T>ACA390336217NUMBc.1804A>T (p.Arg602Trp)
c.1660A>T (p.Arg554Trp)
c.1771A>T (p.Arg591Trp)
c.1219A>T (p.Arg407Trp)
c.1186A>T (p.Arg396Trp)
c.1627A>T (p.Arg543Trp)
c.1333A>T (p.Arg445Trp)
c.1372A>T (p.Arg458Trp)
c.1366A>T (p.Arg456Trp)
c.1762A>T (p.Arg588Trp)
c.1795A>T (p.Arg599Trp)
c.1651A>T (p.Arg551Trp)
c.1510A>T (p.Arg504Trp)
14g.73276730T>CCA390336218NUMBc.1804A>G (p.Arg602Gly)
c.1660A>G (p.Arg554Gly)
c.1771A>G (p.Arg591Gly)
c.1219A>G (p.Arg407Gly)
c.1186A>G (p.Arg396Gly)
c.1627A>G (p.Arg543Gly)
c.1333A>G (p.Arg445Gly)
c.1372A>G (p.Arg458Gly)
c.1366A>G (p.Arg456Gly)
c.1762A>G (p.Arg588Gly)
c.1795A>G (p.Arg599Gly)
c.1651A>G (p.Arg551Gly)
c.1510A>G (p.Arg504Gly)
14g.73276730T>GCA487257563NUMBc.1804A>C (p.Arg602=)
c.1660A>C (p.Arg554=)
c.1771A>C (p.Arg591=)
c.1219A>C (p.Arg407=)
c.1186A>C (p.Arg396=)
c.1627A>C (p.Arg543=)
c.1333A>C (p.Arg445=)
c.1372A>C (p.Arg458=)
c.1366A>C (p.Arg456=)
c.1762A>C (p.Arg588=)
c.1795A>C (p.Arg599=)
c.1651A>C (p.Arg551=)
c.1510A>C (p.Arg504=)
14g.73276731G>ACA487257564NUMBc.1803C>T (p.Asp601=)
c.1659C>T (p.Asp553=)
c.1770C>T (p.Asp590=)
c.1218C>T (p.Asp406=)
c.1185C>T (p.Asp395=)
c.1626C>T (p.Asp542=)
c.1332C>T (p.Asp444=)
c.1371C>T (p.Asp457=)
c.1365C>T (p.Asp455=)
c.1761C>T (p.Asp587=)
c.1794C>T (p.Asp598=)
c.1650C>T (p.Asp550=)
c.1509C>T (p.Asp503=)
14g.73276731G>CCA390336222NUMBc.1803C>G (p.Asp601Glu)
c.1659C>G (p.Asp553Glu)
c.1770C>G (p.Asp590Glu)
c.1218C>G (p.Asp406Glu)
c.1185C>G (p.Asp395Glu)
c.1626C>G (p.Asp542Glu)
c.1332C>G (p.Asp444Glu)
c.1371C>G (p.Asp457Glu)
c.1365C>G (p.Asp455Glu)
c.1761C>G (p.Asp587Glu)
c.1794C>G (p.Asp598Glu)
c.1650C>G (p.Asp550Glu)
c.1509C>G (p.Asp503Glu)
14g.73276731G>TCA390336224NUMBc.1803C>A (p.Asp601Glu)
c.1659C>A (p.Asp553Glu)
c.1770C>A (p.Asp590Glu)
c.1218C>A (p.Asp406Glu)
c.1185C>A (p.Asp395Glu)
c.1626C>A (p.Asp542Glu)
c.1332C>A (p.Asp444Glu)
c.1371C>A (p.Asp457Glu)
c.1365C>A (p.Asp455Glu)
c.1761C>A (p.Asp587Glu)
c.1794C>A (p.Asp598Glu)
c.1650C>A (p.Asp550Glu)
c.1509C>A (p.Asp503Glu)
14g.73276731_73276735delCA2802119536NUMBc.1799_1803del (p.Ala600GlufsTer16)
c.1655_1659del (p.Ala552GlufsTer16)
c.1766_1770del (p.Ala589GlufsTer16)
c.1214_1218del (p.Ala405GlufsTer16)
c.1181_1185del (p.Ala394GlufsTer16)
c.1622_1626del (p.Ala541GlufsTer16)
c.1328_1332del (p.Ala443GlufsTer16)
c.1367_1371del (p.Ala456GlufsTer16)
c.1361_1365del (p.Ala454GlufsTer16)
c.1757_1761del (p.Ala586GlufsTer16)
c.1790_1794del (p.Ala597GlufsTer16)
c.1646_1650del (p.Ala549GlufsTer16)
c.1505_1509del (p.Ala502GlufsTer16)
14g.73276732T>ACA390336226NUMBc.1802A>T (p.Asp601Val)
c.1658A>T (p.Asp553Val)
c.1769A>T (p.Asp590Val)
c.1217A>T (p.Asp406Val)
c.1184A>T (p.Asp395Val)
c.1625A>T (p.Asp542Val)
c.1331A>T (p.Asp444Val)
c.1370A>T (p.Asp457Val)
c.1364A>T (p.Asp455Val)
c.1760A>T (p.Asp587Val)
c.1793A>T (p.Asp598Val)
c.1649A>T (p.Asp550Val)
c.1508A>T (p.Asp503Val)
14g.73276732T>CCA390336227NUMBc.1802A>G (p.Asp601Gly)
c.1658A>G (p.Asp553Gly)
c.1769A>G (p.Asp590Gly)
c.1217A>G (p.Asp406Gly)
c.1184A>G (p.Asp395Gly)
c.1625A>G (p.Asp542Gly)
c.1331A>G (p.Asp444Gly)
c.1370A>G (p.Asp457Gly)
c.1364A>G (p.Asp455Gly)
c.1760A>G (p.Asp587Gly)
c.1793A>G (p.Asp598Gly)
c.1649A>G (p.Asp550Gly)
c.1508A>G (p.Asp503Gly)
 COSMIC
14g.73276732T>GCA390336235NUMBc.1802A>C (p.Asp601Ala)
c.1658A>C (p.Asp553Ala)
c.1769A>C (p.Asp590Ala)
c.1217A>C (p.Asp406Ala)
c.1184A>C (p.Asp395Ala)
c.1625A>C (p.Asp542Ala)
c.1331A>C (p.Asp444Ala)
c.1370A>C (p.Asp457Ala)
c.1364A>C (p.Asp455Ala)
c.1760A>C (p.Asp587Ala)
c.1793A>C (p.Asp598Ala)
c.1649A>C (p.Asp550Ala)
c.1508A>C (p.Asp503Ala)
14g.73276733C>ACA390336239NUMBc.1801G>T (p.Asp601Tyr)
c.1657G>T (p.Asp553Tyr)
c.1768G>T (p.Asp590Tyr)
c.1216G>T (p.Asp406Tyr)
c.1183G>T (p.Asp395Tyr)
c.1624G>T (p.Asp542Tyr)
c.1330G>T (p.Asp444Tyr)
c.1369G>T (p.Asp457Tyr)
c.1363G>T (p.Asp455Tyr)
c.1759G>T (p.Asp587Tyr)
c.1792G>T (p.Asp598Tyr)
c.1648G>T (p.Asp550Tyr)
c.1507G>T (p.Asp503Tyr)
14g.73276733C>GCA390336244NUMBc.1801G>C (p.Asp601His)
c.1657G>C (p.Asp553His)
c.1768G>C (p.Asp590His)
c.1216G>C (p.Asp406His)
c.1183G>C (p.Asp395His)
c.1624G>C (p.Asp542His)
c.1330G>C (p.Asp444His)
c.1369G>C (p.Asp457His)
c.1363G>C (p.Asp455His)
c.1759G>C (p.Asp587His)
c.1792G>C (p.Asp598His)
c.1648G>C (p.Asp550His)
c.1507G>C (p.Asp503His)
14g.73276733C>TCA390336237NUMBc.1801G>A (p.Asp601Asn)
c.1657G>A (p.Asp553Asn)
c.1768G>A (p.Asp590Asn)
c.1216G>A (p.Asp406Asn)
c.1183G>A (p.Asp395Asn)
c.1624G>A (p.Asp542Asn)
c.1330G>A (p.Asp444Asn)
c.1369G>A (p.Asp457Asn)
c.1363G>A (p.Asp455Asn)
c.1759G>A (p.Asp587Asn)
c.1792G>A (p.Asp598Asn)
c.1648G>A (p.Asp550Asn)
c.1507G>A (p.Asp503Asn)
14g.73276734T>ACA487257577NUMBc.1800A>T (p.Ala600=)
c.1656A>T (p.Ala552=)
c.1767A>T (p.Ala589=)
c.1215A>T (p.Ala405=)
c.1182A>T (p.Ala394=)
c.1623A>T (p.Ala541=)
c.1329A>T (p.Ala443=)
c.1368A>T (p.Ala456=)
c.1362A>T (p.Ala454=)
c.1758A>T (p.Ala586=)
c.1791A>T (p.Ala597=)
c.1647A>T (p.Ala549=)
c.1506A>T (p.Ala502=)
14g.73276734T>CCA487257575NUMBc.1800A>G (p.Ala600=)
c.1656A>G (p.Ala552=)
c.1767A>G (p.Ala589=)
c.1215A>G (p.Ala405=)
c.1182A>G (p.Ala394=)
c.1623A>G (p.Ala541=)
c.1329A>G (p.Ala443=)
c.1368A>G (p.Ala456=)
c.1362A>G (p.Ala454=)
c.1758A>G (p.Ala586=)
c.1791A>G (p.Ala597=)
c.1647A>G (p.Ala549=)
c.1506A>G (p.Ala502=)
 gnomAD v4
14g.73276734T>GCA487257576NUMBc.1800A>C (p.Ala600=)
c.1656A>C (p.Ala552=)
c.1767A>C (p.Ala589=)
c.1215A>C (p.Ala405=)
c.1182A>C (p.Ala394=)
c.1623A>C (p.Ala541=)
c.1329A>C (p.Ala443=)
c.1368A>C (p.Ala456=)
c.1362A>C (p.Ala454=)
c.1758A>C (p.Ala586=)
c.1791A>C (p.Ala597=)
c.1647A>C (p.Ala549=)
c.1506A>C (p.Ala502=)
14g.73276735G>ACA390336246NUMBc.1799C>T (p.Ala600Val)
c.1655C>T (p.Ala552Val)
c.1766C>T (p.Ala589Val)
c.1214C>T (p.Ala405Val)
c.1181C>T (p.Ala394Val)
c.1622C>T (p.Ala541Val)
c.1328C>T (p.Ala443Val)
c.1367C>T (p.Ala456Val)
c.1361C>T (p.Ala454Val)
c.1757C>T (p.Ala586Val)
c.1790C>T (p.Ala597Val)
c.1646C>T (p.Ala549Val)
c.1505C>T (p.Ala502Val)
14g.73276735G>CCA390336247NUMBc.1799C>G (p.Ala600Gly)
c.1655C>G (p.Ala552Gly)
c.1766C>G (p.Ala589Gly)
c.1214C>G (p.Ala405Gly)
c.1181C>G (p.Ala394Gly)
c.1622C>G (p.Ala541Gly)
c.1328C>G (p.Ala443Gly)
c.1367C>G (p.Ala456Gly)
c.1361C>G (p.Ala454Gly)
c.1757C>G (p.Ala586Gly)
c.1790C>G (p.Ala597Gly)
c.1646C>G (p.Ala549Gly)
c.1505C>G (p.Ala502Gly)
 dbSNP gnomAD v4
14g.73276735G=CA2146520919NUMBc.1799C= (p.Ala600=)
c.1655C= (p.Ala552=)
c.1766C= (p.Ala589=)
c.1214C= (p.Ala405=)
c.1181C= (p.Ala394=)
c.1622C= (p.Ala541=)
c.1328C= (p.Ala443=)
c.1367C= (p.Ala456=)
c.1361C= (p.Ala454=)
c.1757C= (p.Ala586=)
c.1790C= (p.Ala597=)
c.1646C= (p.Ala549=)
c.1505C= (p.Ala502=)
14g.73276735G>TCA390336249NUMBc.1799C>A (p.Ala600Glu)
c.1655C>A (p.Ala552Glu)
c.1766C>A (p.Ala589Glu)
c.1214C>A (p.Ala405Glu)
c.1181C>A (p.Ala394Glu)
c.1622C>A (p.Ala541Glu)
c.1328C>A (p.Ala443Glu)
c.1367C>A (p.Ala456Glu)
c.1361C>A (p.Ala454Glu)
c.1757C>A (p.Ala586Glu)
c.1790C>A (p.Ala597Glu)
c.1646C>A (p.Ala549Glu)
c.1505C>A (p.Ala502Glu)
14g.73276736C>ACA390336257NUMBc.1798G>T (p.Ala600Ser)
c.1654G>T (p.Ala552Ser)
c.1765G>T (p.Ala589Ser)
c.1213G>T (p.Ala405Ser)
c.1180G>T (p.Ala394Ser)
c.1621G>T (p.Ala541Ser)
c.1327G>T (p.Ala443Ser)
c.1366G>T (p.Ala456Ser)
c.1360G>T (p.Ala454Ser)
c.1756G>T (p.Ala586Ser)
c.1789G>T (p.Ala597Ser)
c.1645G>T (p.Ala549Ser)
c.1504G>T (p.Ala502Ser)
14g.73276736C>GCA390336259NUMBc.1798G>C (p.Ala600Pro)
c.1654G>C (p.Ala552Pro)
c.1765G>C (p.Ala589Pro)
c.1213G>C (p.Ala405Pro)
c.1180G>C (p.Ala394Pro)
c.1621G>C (p.Ala541Pro)
c.1327G>C (p.Ala443Pro)
c.1366G>C (p.Ala456Pro)
c.1360G>C (p.Ala454Pro)
c.1756G>C (p.Ala586Pro)
c.1789G>C (p.Ala597Pro)
c.1645G>C (p.Ala549Pro)
c.1504G>C (p.Ala502Pro)
14g.73276736C>TCA390336261NUMBc.1798G>A (p.Ala600Thr)
c.1654G>A (p.Ala552Thr)
c.1765G>A (p.Ala589Thr)
c.1213G>A (p.Ala405Thr)
c.1180G>A (p.Ala394Thr)
c.1621G>A (p.Ala541Thr)
c.1327G>A (p.Ala443Thr)
c.1366G>A (p.Ala456Thr)
c.1360G>A (p.Ala454Thr)
c.1756G>A (p.Ala586Thr)
c.1789G>A (p.Ala597Thr)
c.1645G>A (p.Ala549Thr)
c.1504G>A (p.Ala502Thr)
14g.73276737T>ACA487257586NUMBc.1797A>T (p.Ser599=)
c.1653A>T (p.Ser551=)
c.1764A>T (p.Ser588=)
c.1212A>T (p.Ser404=)
c.1179A>T (p.Ser393=)
c.1620A>T (p.Ser540=)
c.1326A>T (p.Ser442=)
c.1365A>T (p.Ser455=)
c.1359A>T (p.Ser453=)
c.1755A>T (p.Ser585=)
c.1788A>T (p.Ser596=)
c.1644A>T (p.Ser548=)
c.1503A>T (p.Ser501=)
14g.73276737T>CCA487257587NUMBc.1797A>G (p.Ser599=)
c.1653A>G (p.Ser551=)
c.1764A>G (p.Ser588=)
c.1212A>G (p.Ser404=)
c.1179A>G (p.Ser393=)
c.1620A>G (p.Ser540=)
c.1326A>G (p.Ser442=)
c.1365A>G (p.Ser455=)
c.1359A>G (p.Ser453=)
c.1755A>G (p.Ser585=)
c.1788A>G (p.Ser596=)
c.1644A>G (p.Ser548=)
c.1503A>G (p.Ser501=)
14g.73276737T>GCA487257588NUMBc.1797A>C (p.Ser599=)
c.1653A>C (p.Ser551=)
c.1764A>C (p.Ser588=)
c.1212A>C (p.Ser404=)
c.1179A>C (p.Ser393=)
c.1620A>C (p.Ser540=)
c.1326A>C (p.Ser442=)
c.1365A>C (p.Ser455=)
c.1359A>C (p.Ser453=)
c.1755A>C (p.Ser585=)
c.1788A>C (p.Ser596=)
c.1644A>C (p.Ser548=)
c.1503A>C (p.Ser501=)
14g.73276738G>ACA390336263NUMBc.1796C>T (p.Ser599Leu)
c.1652C>T (p.Ser551Leu)
c.1763C>T (p.Ser588Leu)
c.1211C>T (p.Ser404Leu)
c.1178C>T (p.Ser393Leu)
c.1619C>T (p.Ser540Leu)
c.1325C>T (p.Ser442Leu)
c.1364C>T (p.Ser455Leu)
c.1358C>T (p.Ser453Leu)
c.1754C>T (p.Ser585Leu)
c.1787C>T (p.Ser596Leu)
c.1643C>T (p.Ser548Leu)
c.1502C>T (p.Ser501Leu)
 gnomAD v4
14g.73276738G>CCA390336267NUMBc.1796C>G (p.Ser599Ter)
c.1652C>G (p.Ser551Ter)
c.1763C>G (p.Ser588Ter)
c.1211C>G (p.Ser404Ter)
c.1178C>G (p.Ser393Ter)
c.1619C>G (p.Ser540Ter)
c.1325C>G (p.Ser442Ter)
c.1364C>G (p.Ser455Ter)
c.1358C>G (p.Ser453Ter)
c.1754C>G (p.Ser585Ter)
c.1787C>G (p.Ser596Ter)
c.1643C>G (p.Ser548Ter)
c.1502C>G (p.Ser501Ter)
14g.73276738G>TCA390336265NUMBc.1796C>A (p.Ser599Ter)
c.1652C>A (p.Ser551Ter)
c.1763C>A (p.Ser588Ter)
c.1211C>A (p.Ser404Ter)
c.1178C>A (p.Ser393Ter)
c.1619C>A (p.Ser540Ter)
c.1325C>A (p.Ser442Ter)
c.1364C>A (p.Ser455Ter)
c.1358C>A (p.Ser453Ter)
c.1754C>A (p.Ser585Ter)
c.1787C>A (p.Ser596Ter)
c.1643C>A (p.Ser548Ter)
c.1502C>A (p.Ser501Ter)
14g.73276739A>CCA390336269NUMBc.1795T>G (p.Ser599Ala)
c.1651T>G (p.Ser551Ala)
c.1762T>G (p.Ser588Ala)
c.1210T>G (p.Ser404Ala)
c.1177T>G (p.Ser393Ala)
c.1618T>G (p.Ser540Ala)
c.1324T>G (p.Ser442Ala)
c.1363T>G (p.Ser455Ala)
c.1357T>G (p.Ser453Ala)
c.1753T>G (p.Ser585Ala)
c.1786T>G (p.Ser596Ala)
c.1642T>G (p.Ser548Ala)
c.1501T>G (p.Ser501Ala)
14g.73276739A>GCA390336270NUMBc.1795T>C (p.Ser599Pro)
c.1651T>C (p.Ser551Pro)
c.1762T>C (p.Ser588Pro)
c.1210T>C (p.Ser404Pro)
c.1177T>C (p.Ser393Pro)
c.1618T>C (p.Ser540Pro)
c.1324T>C (p.Ser442Pro)
c.1363T>C (p.Ser455Pro)
c.1357T>C (p.Ser453Pro)
c.1753T>C (p.Ser585Pro)
c.1786T>C (p.Ser596Pro)
c.1642T>C (p.Ser548Pro)
c.1501T>C (p.Ser501Pro)
14g.73276739A>TCA390336271NUMBc.1795T>A (p.Ser599Thr)
c.1651T>A (p.Ser551Thr)
c.1762T>A (p.Ser588Thr)
c.1210T>A (p.Ser404Thr)
c.1177T>A (p.Ser393Thr)
c.1618T>A (p.Ser540Thr)
c.1324T>A (p.Ser442Thr)
c.1363T>A (p.Ser455Thr)
c.1357T>A (p.Ser453Thr)
c.1753T>A (p.Ser585Thr)
c.1786T>A (p.Ser596Thr)
c.1642T>A (p.Ser548Thr)
c.1501T>A (p.Ser501Thr)
14g.73276739_73276740insTACCA2510190638NUMBc.1794_1795insGTA (p.Ala598_Ser599insVal)
c.1650_1651insGTA (p.Ala550_Ser551insVal)
c.1761_1762insGTA (p.Ala587_Ser588insVal)
c.1209_1210insGTA (p.Ala403_Ser404insVal)
c.1176_1177insGTA (p.Ala392_Ser393insVal)
c.1617_1618insGTA (p.Ala539_Ser540insVal)
c.1323_1324insGTA (p.Ala441_Ser442insVal)
c.1362_1363insGTA (p.Ala454_Ser455insVal)
c.1356_1357insGTA (p.Ala452_Ser453insVal)
c.1752_1753insGTA (p.Ala584_Ser585insVal)
c.1785_1786insGTA (p.Ala595_Ser596insVal)
c.1641_1642insGTA (p.Ala547_Ser548insVal)
c.1500_1501insGTA (p.Ala500_Ser501insVal)
14g.73276740G>ACA487257593NUMBc.1794C>T (p.Ala598=)
c.1650C>T (p.Ala550=)
c.1761C>T (p.Ala587=)
c.1209C>T (p.Ala403=)
c.1176C>T (p.Ala392=)
c.1617C>T (p.Ala539=)
c.1323C>T (p.Ala441=)
c.1362C>T (p.Ala454=)
c.1356C>T (p.Ala452=)
c.1752C>T (p.Ala584=)
c.1785C>T (p.Ala595=)
c.1641C>T (p.Ala547=)
c.1500C>T (p.Ala500=)
 gnomAD v4 COSMIC
14g.73276740G>CCA262630523NUMBc.1794C>G (p.Ala598=)
c.1650C>G (p.Ala550=)
c.1761C>G (p.Ala587=)
c.1209C>G (p.Ala403=)
c.1176C>G (p.Ala392=)
c.1617C>G (p.Ala539=)
c.1323C>G (p.Ala441=)
c.1362C>G (p.Ala454=)
c.1356C>G (p.Ala452=)
c.1752C>G (p.Ala584=)
c.1785C>G (p.Ala595=)
c.1641C>G (p.Ala547=)
c.1500C>G (p.Ala500=)
 dbSNP
14g.73276740G=CA2146520920NUMBc.1794C= (p.Ala598=)
c.1650C= (p.Ala550=)
c.1761C= (p.Ala587=)
c.1209C= (p.Ala403=)
c.1176C= (p.Ala392=)
c.1617C= (p.Ala539=)
c.1323C= (p.Ala441=)
c.1362C= (p.Ala454=)
c.1356C= (p.Ala452=)
c.1752C= (p.Ala584=)
c.1785C= (p.Ala595=)
c.1641C= (p.Ala547=)
c.1500C= (p.Ala500=)
14g.73276740G>TCA487257594NUMBc.1794C>A (p.Ala598=)
c.1650C>A (p.Ala550=)
c.1761C>A (p.Ala587=)
c.1209C>A (p.Ala403=)
c.1176C>A (p.Ala392=)
c.1617C>A (p.Ala539=)
c.1323C>A (p.Ala441=)
c.1362C>A (p.Ala454=)
c.1356C>A (p.Ala452=)
c.1752C>A (p.Ala584=)
c.1785C>A (p.Ala595=)
c.1641C>A (p.Ala547=)
c.1500C>A (p.Ala500=)
14g.73276741G>ACA7258645NUMBc.1793C>T (p.Ala598Val)
c.1649C>T (p.Ala550Val)
c.1760C>T (p.Ala587Val)
c.1208C>T (p.Ala403Val)
c.1175C>T (p.Ala392Val)
c.1616C>T (p.Ala539Val)
c.1322C>T (p.Ala441Val)
c.1361C>T (p.Ala454Val)
c.1355C>T (p.Ala452Val)
c.1751C>T (p.Ala584Val)
c.1784C>T (p.Ala595Val)
c.1640C>T (p.Ala547Val)
c.1499C>T (p.Ala500Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.73276741G>CCA390336274NUMBc.1793C>G (p.Ala598Gly)
c.1649C>G (p.Ala550Gly)
c.1760C>G (p.Ala587Gly)
c.1208C>G (p.Ala403Gly)
c.1175C>G (p.Ala392Gly)
c.1616C>G (p.Ala539Gly)
c.1322C>G (p.Ala441Gly)
c.1361C>G (p.Ala454Gly)
c.1355C>G (p.Ala452Gly)
c.1751C>G (p.Ala584Gly)
c.1784C>G (p.Ala595Gly)
c.1640C>G (p.Ala547Gly)
c.1499C>G (p.Ala500Gly)
14g.73276741G=CA2146520921NUMBc.1793C= (p.Ala598=)
c.1649C= (p.Ala550=)
c.1760C= (p.Ala587=)
c.1208C= (p.Ala403=)
c.1175C= (p.Ala392=)
c.1616C= (p.Ala539=)
c.1322C= (p.Ala441=)
c.1361C= (p.Ala454=)
c.1355C= (p.Ala452=)
c.1751C= (p.Ala584=)
c.1784C= (p.Ala595=)
c.1640C= (p.Ala547=)
c.1499C= (p.Ala500=)
14g.73276741G>TCA390336272NUMBc.1793C>A (p.Ala598Asp)
c.1649C>A (p.Ala550Asp)
c.1760C>A (p.Ala587Asp)
c.1208C>A (p.Ala403Asp)
c.1175C>A (p.Ala392Asp)
c.1616C>A (p.Ala539Asp)
c.1322C>A (p.Ala441Asp)
c.1361C>A (p.Ala454Asp)
c.1355C>A (p.Ala452Asp)
c.1751C>A (p.Ala584Asp)
c.1784C>A (p.Ala595Asp)
c.1640C>A (p.Ala547Asp)
c.1499C>A (p.Ala500Asp)
14g.73276742C>ACA390336276NUMBc.1792G>T (p.Ala598Ser)
c.1648G>T (p.Ala550Ser)
c.1759G>T (p.Ala587Ser)
c.1207G>T (p.Ala403Ser)
c.1174G>T (p.Ala392Ser)
c.1615G>T (p.Ala539Ser)
c.1321G>T (p.Ala441Ser)
c.1360G>T (p.Ala454Ser)
c.1354G>T (p.Ala452Ser)
c.1750G>T (p.Ala584Ser)
c.1783G>T (p.Ala595Ser)
c.1639G>T (p.Ala547Ser)
c.1498G>T (p.Ala500Ser)
14g.73276742C>GCA390336279NUMBc.1792G>C (p.Ala598Pro)
c.1648G>C (p.Ala550Pro)
c.1759G>C (p.Ala587Pro)
c.1207G>C (p.Ala403Pro)
c.1174G>C (p.Ala392Pro)
c.1615G>C (p.Ala539Pro)
c.1321G>C (p.Ala441Pro)
c.1360G>C (p.Ala454Pro)
c.1354G>C (p.Ala452Pro)
c.1750G>C (p.Ala584Pro)
c.1783G>C (p.Ala595Pro)
c.1639G>C (p.Ala547Pro)
c.1498G>C (p.Ala500Pro)
14g.73276742C>TCA390336278NUMBc.1792G>A (p.Ala598Thr)
c.1648G>A (p.Ala550Thr)
c.1759G>A (p.Ala587Thr)
c.1207G>A (p.Ala403Thr)
c.1174G>A (p.Ala392Thr)
c.1615G>A (p.Ala539Thr)
c.1321G>A (p.Ala441Thr)
c.1360G>A (p.Ala454Thr)
c.1354G>A (p.Ala452Thr)
c.1750G>A (p.Ala584Thr)
c.1783G>A (p.Ala595Thr)
c.1639G>A (p.Ala547Thr)
c.1498G>A (p.Ala500Thr)
14g.73276743C>ACA390336281NUMBc.1791G>T (p.Leu597Phe)
c.1647G>T (p.Leu549Phe)
c.1758G>T (p.Leu586Phe)
c.1206G>T (p.Leu402Phe)
c.1173G>T (p.Leu391Phe)
c.1614G>T (p.Leu538Phe)
c.1320G>T (p.Leu440Phe)
c.1359G>T (p.Leu453Phe)
c.1353G>T (p.Leu451Phe)
c.1749G>T (p.Leu583Phe)
c.1782G>T (p.Leu594Phe)
c.1638G>T (p.Leu546Phe)
c.1497G>T (p.Leu499Phe)
14g.73276743C=CA2146520922NUMBc.1791G= (p.Leu597=)
c.1647G= (p.Leu549=)
c.1758G= (p.Leu586=)
c.1206G= (p.Leu402=)
c.1173G= (p.Leu391=)
c.1614G= (p.Leu538=)
c.1320G= (p.Leu440=)
c.1359G= (p.Leu453=)
c.1353G= (p.Leu451=)
c.1749G= (p.Leu583=)
c.1782G= (p.Leu594=)
c.1638G= (p.Leu546=)
c.1497G= (p.Leu499=)
14g.73276743C>GCA390336288NUMBc.1791G>C (p.Leu597Phe)
c.1647G>C (p.Leu549Phe)
c.1758G>C (p.Leu586Phe)
c.1206G>C (p.Leu402Phe)
c.1173G>C (p.Leu391Phe)
c.1614G>C (p.Leu538Phe)
c.1320G>C (p.Leu440Phe)
c.1359G>C (p.Leu453Phe)
c.1353G>C (p.Leu451Phe)
c.1749G>C (p.Leu583Phe)
c.1782G>C (p.Leu594Phe)
c.1638G>C (p.Leu546Phe)
c.1497G>C (p.Leu499Phe)
14g.73276743C>TCA7258646NUMBc.1791G>A (p.Leu597=)
c.1647G>A (p.Leu549=)
c.1758G>A (p.Leu586=)
c.1206G>A (p.Leu402=)
c.1173G>A (p.Leu391=)
c.1614G>A (p.Leu538=)
c.1320G>A (p.Leu440=)
c.1359G>A (p.Leu453=)
c.1353G>A (p.Leu451=)
c.1749G>A (p.Leu583=)
c.1782G>A (p.Leu594=)
c.1638G>A (p.Leu546=)
c.1497G>A (p.Leu499=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.73276744A>CCA390336291NUMBc.1790T>G (p.Leu597Trp)
c.1646T>G (p.Leu549Trp)
c.1757T>G (p.Leu586Trp)
c.1205T>G (p.Leu402Trp)
c.1172T>G (p.Leu391Trp)
c.1613T>G (p.Leu538Trp)
c.1319T>G (p.Leu440Trp)
c.1358T>G (p.Leu453Trp)
c.1352T>G (p.Leu451Trp)
c.1748T>G (p.Leu583Trp)
c.1781T>G (p.Leu594Trp)
c.1637T>G (p.Leu546Trp)
c.1496T>G (p.Leu499Trp)
14g.73276744A>GCA390336296NUMBc.1790T>C (p.Leu597Ser)
c.1646T>C (p.Leu549Ser)
c.1757T>C (p.Leu586Ser)
c.1205T>C (p.Leu402Ser)
c.1172T>C (p.Leu391Ser)
c.1613T>C (p.Leu538Ser)
c.1319T>C (p.Leu440Ser)
c.1358T>C (p.Leu453Ser)
c.1352T>C (p.Leu451Ser)
c.1748T>C (p.Leu583Ser)
c.1781T>C (p.Leu594Ser)
c.1637T>C (p.Leu546Ser)
c.1496T>C (p.Leu499Ser)
14g.73276744A>TCA390336297NUMBc.1790T>A (p.Leu597Ter)
c.1646T>A (p.Leu549Ter)
c.1757T>A (p.Leu586Ter)
c.1205T>A (p.Leu402Ter)
c.1172T>A (p.Leu391Ter)
c.1613T>A (p.Leu538Ter)
c.1319T>A (p.Leu440Ter)
c.1358T>A (p.Leu453Ter)
c.1352T>A (p.Leu451Ter)
c.1748T>A (p.Leu583Ter)
c.1781T>A (p.Leu594Ter)
c.1637T>A (p.Leu546Ter)
c.1496T>A (p.Leu499Ter)
14g.73276745A=CA2146520923NUMBc.1789T= (p.Leu597=)
c.1645T= (p.Leu549=)
c.1756T= (p.Leu586=)
c.1204T= (p.Leu402=)
c.1171T= (p.Leu391=)
c.1612T= (p.Leu538=)
c.1318T= (p.Leu440=)
c.1357T= (p.Leu453=)
c.1351T= (p.Leu451=)
c.1747T= (p.Leu583=)
c.1780T= (p.Leu594=)
c.1636T= (p.Leu546=)
c.1495T= (p.Leu499=)
14g.73276745A>CCA390336299NUMBc.1789T>G (p.Leu597Val)
c.1645T>G (p.Leu549Val)
c.1756T>G (p.Leu586Val)
c.1204T>G (p.Leu402Val)
c.1171T>G (p.Leu391Val)
c.1612T>G (p.Leu538Val)
c.1318T>G (p.Leu440Val)
c.1357T>G (p.Leu453Val)
c.1351T>G (p.Leu451Val)
c.1747T>G (p.Leu583Val)
c.1780T>G (p.Leu594Val)
c.1636T>G (p.Leu546Val)
c.1495T>G (p.Leu499Val)
 dbSNP
14g.73276745A>GCA487257607NUMBc.1789T>C (p.Leu597=)
c.1645T>C (p.Leu549=)
c.1756T>C (p.Leu586=)
c.1204T>C (p.Leu402=)
c.1171T>C (p.Leu391=)
c.1612T>C (p.Leu538=)
c.1318T>C (p.Leu440=)
c.1357T>C (p.Leu453=)
c.1351T>C (p.Leu451=)
c.1747T>C (p.Leu583=)
c.1780T>C (p.Leu594=)
c.1636T>C (p.Leu546=)
c.1495T>C (p.Leu499=)
14g.73276745A>TCA390336301NUMBc.1789T>A (p.Leu597Met)
c.1645T>A (p.Leu549Met)
c.1756T>A (p.Leu586Met)
c.1204T>A (p.Leu402Met)
c.1171T>A (p.Leu391Met)
c.1612T>A (p.Leu538Met)
c.1318T>A (p.Leu440Met)
c.1357T>A (p.Leu453Met)
c.1351T>A (p.Leu451Met)
c.1747T>A (p.Leu583Met)
c.1780T>A (p.Leu594Met)
c.1636T>A (p.Leu546Met)
c.1495T>A (p.Leu499Met)
14g.73276745_73276749delCA2558465468NUMBc.1785_1789del (p.Arg596GlyfsTer20)
c.1641_1645del (p.Arg548GlyfsTer20)
c.1752_1756del (p.Arg585GlyfsTer20)
c.1200_1204del (p.Arg401GlyfsTer20)
c.1167_1171del (p.Arg390GlyfsTer20)
c.1608_1612del (p.Arg537GlyfsTer20)
c.1314_1318del (p.Arg439GlyfsTer20)
c.1353_1357del (p.Arg452GlyfsTer20)
c.1347_1351del (p.Arg450GlyfsTer20)
c.1743_1747del (p.Arg582GlyfsTer20)
c.1776_1780del (p.Arg593GlyfsTer20)
c.1632_1636del (p.Arg545GlyfsTer20)
c.1491_1495del (p.Arg498GlyfsTer20)
14g.73276746C>ACA390336305NUMBc.1788G>T (p.Arg596Ser)
c.1644G>T (p.Arg548Ser)
c.1755G>T (p.Arg585Ser)
c.1203G>T (p.Arg401Ser)
c.1170G>T (p.Arg390Ser)
c.1611G>T (p.Arg537Ser)
c.1317G>T (p.Arg439Ser)
c.1356G>T (p.Arg452Ser)
c.1350G>T (p.Arg450Ser)
c.1746G>T (p.Arg582Ser)
c.1779G>T (p.Arg593Ser)
c.1635G>T (p.Arg545Ser)
c.1494G>T (p.Arg498Ser)
14g.73276746C>GCA390336308NUMBc.1788G>C (p.Arg596Ser)
c.1644G>C (p.Arg548Ser)
c.1755G>C (p.Arg585Ser)
c.1203G>C (p.Arg401Ser)
c.1170G>C (p.Arg390Ser)
c.1611G>C (p.Arg537Ser)
c.1317G>C (p.Arg439Ser)
c.1356G>C (p.Arg452Ser)
c.1350G>C (p.Arg450Ser)
c.1746G>C (p.Arg582Ser)
c.1779G>C (p.Arg593Ser)
c.1635G>C (p.Arg545Ser)
c.1494G>C (p.Arg498Ser)
14g.73276746C>TCA487257614NUMBc.1788G>A (p.Arg596=)
c.1644G>A (p.Arg548=)
c.1755G>A (p.Arg585=)
c.1203G>A (p.Arg401=)
c.1170G>A (p.Arg390=)
c.1611G>A (p.Arg537=)
c.1317G>A (p.Arg439=)
c.1356G>A (p.Arg452=)
c.1350G>A (p.Arg450=)
c.1746G>A (p.Arg582=)
c.1779G>A (p.Arg593=)
c.1635G>A (p.Arg545=)
c.1494G>A (p.Arg498=)
14g.73276747delCA2625566417NUMBc.1788del (p.Arg596SerfsTer28)
c.1644del (p.Arg548SerfsTer28)
c.1755del (p.Arg585SerfsTer28)
c.1203del (p.Arg401SerfsTer28)
c.1170del (p.Arg390SerfsTer28)
c.1611del (p.Arg537SerfsTer28)
c.1317del (p.Arg439SerfsTer28)
c.1356del (p.Arg452SerfsTer28)
c.1350del (p.Arg450SerfsTer28)
c.1746del (p.Arg582SerfsTer28)
c.1779del (p.Arg593SerfsTer28)
c.1635del (p.Arg545SerfsTer28)
c.1494del (p.Arg498SerfsTer28)
 gnomAD v4
14g.73276747C>ACA390336311NUMBc.1787G>T (p.Arg596Met)
c.1643G>T (p.Arg548Met)
c.1754G>T (p.Arg585Met)
c.1202G>T (p.Arg401Met)
c.1169G>T (p.Arg390Met)
c.1610G>T (p.Arg537Met)
c.1316G>T (p.Arg439Met)
c.1355G>T (p.Arg452Met)
c.1349G>T (p.Arg450Met)
c.1745G>T (p.Arg582Met)
c.1778G>T (p.Arg593Met)
c.1634G>T (p.Arg545Met)
c.1493G>T (p.Arg498Met)
14g.73276747C>GCA390336324NUMBc.1787G>C (p.Arg596Thr)
c.1643G>C (p.Arg548Thr)
c.1754G>C (p.Arg585Thr)
c.1202G>C (p.Arg401Thr)
c.1169G>C (p.Arg390Thr)
c.1610G>C (p.Arg537Thr)
c.1316G>C (p.Arg439Thr)
c.1355G>C (p.Arg452Thr)
c.1349G>C (p.Arg450Thr)
c.1745G>C (p.Arg582Thr)
c.1778G>C (p.Arg593Thr)
c.1634G>C (p.Arg545Thr)
c.1493G>C (p.Arg498Thr)
14g.73276747C>TCA390336325NUMBc.1787G>A (p.Arg596Lys)
c.1643G>A (p.Arg548Lys)
c.1754G>A (p.Arg585Lys)
c.1202G>A (p.Arg401Lys)
c.1169G>A (p.Arg390Lys)
c.1610G>A (p.Arg537Lys)
c.1316G>A (p.Arg439Lys)
c.1355G>A (p.Arg452Lys)
c.1349G>A (p.Arg450Lys)
c.1745G>A (p.Arg582Lys)
c.1778G>A (p.Arg593Lys)
c.1634G>A (p.Arg545Lys)
c.1493G>A (p.Arg498Lys)
14g.73276747_73276792dupCA2625566421NUMBc.1742_1787dup (p.Leu597AlafsTer13)
c.1598_1643dup (p.Leu549AlafsTer13)
c.1709_1754dup (p.Leu586AlafsTer13)
c.1157_1202dup (p.Leu402AlafsTer13)
c.1124_1169dup (p.Leu391AlafsTer13)
c.1565_1610dup (p.Leu538AlafsTer13)
c.1271_1316dup (p.Leu440AlafsTer13)
c.1310_1355dup (p.Leu453AlafsTer13)
c.1304_1349dup (p.Leu451AlafsTer13)
c.1700_1745dup (p.Leu583AlafsTer13)
c.1733_1778dup (p.Leu594AlafsTer13)
c.1589_1634dup (p.Leu546AlafsTer13)
c.1448_1493dup (p.Leu499AlafsTer13)
 gnomAD v4
14g.73276748T>ACA390336331NUMBc.1786A>T (p.Arg596Trp)
c.1642A>T (p.Arg548Trp)
c.1753A>T (p.Arg585Trp)
c.1201A>T (p.Arg401Trp)
c.1168A>T (p.Arg390Trp)
c.1609A>T (p.Arg537Trp)
c.1315A>T (p.Arg439Trp)
c.1354A>T (p.Arg452Trp)
c.1348A>T (p.Arg450Trp)
c.1744A>T (p.Arg582Trp)
c.1777A>T (p.Arg593Trp)
c.1633A>T (p.Arg545Trp)
c.1492A>T (p.Arg498Trp)
14g.73276748T>CCA390336330NUMBc.1786A>G (p.Arg596Gly)
c.1642A>G (p.Arg548Gly)
c.1753A>G (p.Arg585Gly)
c.1201A>G (p.Arg401Gly)
c.1168A>G (p.Arg390Gly)
c.1609A>G (p.Arg537Gly)
c.1315A>G (p.Arg439Gly)
c.1354A>G (p.Arg452Gly)
c.1348A>G (p.Arg450Gly)
c.1744A>G (p.Arg582Gly)
c.1777A>G (p.Arg593Gly)
c.1633A>G (p.Arg545Gly)
c.1492A>G (p.Arg498Gly)
14g.73276748T>GCA7258647NUMBc.1786A>C (p.Arg596=)
c.1642A>C (p.Arg548=)
c.1753A>C (p.Arg585=)
c.1201A>C (p.Arg401=)
c.1168A>C (p.Arg390=)
c.1609A>C (p.Arg537=)
c.1315A>C (p.Arg439=)
c.1354A>C (p.Arg452=)
c.1348A>C (p.Arg450=)
c.1744A>C (p.Arg582=)
c.1777A>C (p.Arg593=)
c.1633A>C (p.Arg545=)
c.1492A>C (p.Arg498=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.73276748T=CA2146520924NUMBc.1786A= (p.Arg596=)
c.1642A= (p.Arg548=)
c.1753A= (p.Arg585=)
c.1201A= (p.Arg401=)
c.1168A= (p.Arg390=)
c.1609A= (p.Arg537=)
c.1315A= (p.Arg439=)
c.1354A= (p.Arg452=)
c.1348A= (p.Arg450=)
c.1744A= (p.Arg582=)
c.1777A= (p.Arg593=)
c.1633A= (p.Arg545=)
c.1492A= (p.Arg498=)
14g.73276749G>ACA7258648NUMBc.1785C>T (p.Gly595=)
c.1641C>T (p.Gly547=)
c.1752C>T (p.Gly584=)
c.1200C>T (p.Gly400=)
c.1167C>T (p.Gly389=)
c.1608C>T (p.Gly536=)
c.1314C>T (p.Gly438=)
c.1353C>T (p.Gly451=)
c.1347C>T (p.Gly449=)
c.1743C>T (p.Gly581=)
c.1776C>T (p.Gly592=)
c.1632C>T (p.Gly544=)
c.1491C>T (p.Gly497=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.73276749G>CCA487257618NUMBc.1785C>G (p.Gly595=)
c.1641C>G (p.Gly547=)
c.1752C>G (p.Gly584=)
c.1200C>G (p.Gly400=)
c.1167C>G (p.Gly389=)
c.1608C>G (p.Gly536=)
c.1314C>G (p.Gly438=)
c.1353C>G (p.Gly451=)
c.1347C>G (p.Gly449=)
c.1743C>G (p.Gly581=)
c.1776C>G (p.Gly592=)
c.1632C>G (p.Gly544=)
c.1491C>G (p.Gly497=)
14g.73276749G=CA2146520925NUMBc.1785C= (p.Gly595=)
c.1641C= (p.Gly547=)
c.1752C= (p.Gly584=)
c.1200C= (p.Gly400=)
c.1167C= (p.Gly389=)
c.1608C= (p.Gly536=)
c.1314C= (p.Gly438=)
c.1353C= (p.Gly451=)
c.1347C= (p.Gly449=)
c.1743C= (p.Gly581=)
c.1776C= (p.Gly592=)
c.1632C= (p.Gly544=)
c.1491C= (p.Gly497=)
14g.73276749G>TCA487257620NUMBc.1785C>A (p.Gly595=)
c.1641C>A (p.Gly547=)
c.1752C>A (p.Gly584=)
c.1200C>A (p.Gly400=)
c.1167C>A (p.Gly389=)
c.1608C>A (p.Gly536=)
c.1314C>A (p.Gly438=)
c.1353C>A (p.Gly451=)
c.1347C>A (p.Gly449=)
c.1743C>A (p.Gly581=)
c.1776C>A (p.Gly592=)
c.1632C>A (p.Gly544=)
c.1491C>A (p.Gly497=)
14g.73276750C>ACA390336337NUMBc.1784G>T (p.Gly595Val)
c.1640G>T (p.Gly547Val)
c.1751G>T (p.Gly584Val)
c.1199G>T (p.Gly400Val)
c.1166G>T (p.Gly389Val)
c.1607G>T (p.Gly536Val)
c.1313G>T (p.Gly438Val)
c.1352G>T (p.Gly451Val)
c.1346G>T (p.Gly449Val)
c.1742G>T (p.Gly581Val)
c.1775G>T (p.Gly592Val)
c.1631G>T (p.Gly544Val)
c.1490G>T (p.Gly497Val)
14g.73276750C=CA2146520927NUMBc.1784G= (p.Gly595=)
c.1640G= (p.Gly547=)
c.1751G= (p.Gly584=)
c.1199G= (p.Gly400=)
c.1166G= (p.Gly389=)
c.1607G= (p.Gly536=)
c.1313G= (p.Gly438=)
c.1352G= (p.Gly451=)
c.1346G= (p.Gly449=)
c.1742G= (p.Gly581=)
c.1775G= (p.Gly592=)
c.1631G= (p.Gly544=)
c.1490G= (p.Gly497=)
14g.73276750C>GCA390336341NUMBc.1784G>C (p.Gly595Ala)
c.1640G>C (p.Gly547Ala)
c.1751G>C (p.Gly584Ala)
c.1199G>C (p.Gly400Ala)
c.1166G>C (p.Gly389Ala)
c.1607G>C (p.Gly536Ala)
c.1313G>C (p.Gly438Ala)
c.1352G>C (p.Gly451Ala)
c.1346G>C (p.Gly449Ala)
c.1742G>C (p.Gly581Ala)
c.1775G>C (p.Gly592Ala)
c.1631G>C (p.Gly544Ala)
c.1490G>C (p.Gly497Ala)
14g.73276750C>TCA7258649NUMBc.1784G>A (p.Gly595Asp)
c.1640G>A (p.Gly547Asp)
c.1751G>A (p.Gly584Asp)
c.1199G>A (p.Gly400Asp)
c.1166G>A (p.Gly389Asp)
c.1607G>A (p.Gly536Asp)
c.1313G>A (p.Gly438Asp)
c.1352G>A (p.Gly451Asp)
c.1346G>A (p.Gly449Asp)
c.1742G>A (p.Gly581Asp)
c.1775G>A (p.Gly592Asp)
c.1631G>A (p.Gly544Asp)
c.1490G>A (p.Gly497Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.73276751delCA2625566425NUMBc.1784del (p.Gly595AlafsTer29)
c.1640del (p.Gly547AlafsTer29)
c.1751del (p.Gly584AlafsTer29)
c.1199del (p.Gly400AlafsTer29)
c.1166del (p.Gly389AlafsTer29)
c.1607del (p.Gly536AlafsTer29)
c.1313del (p.Gly438AlafsTer29)
c.1352del (p.Gly451AlafsTer29)
c.1346del (p.Gly449AlafsTer29)
c.1742del (p.Gly581AlafsTer29)
c.1775del (p.Gly592AlafsTer29)
c.1631del (p.Gly544AlafsTer29)
c.1490del (p.Gly497AlafsTer29)
 gnomAD v4
14g.73276750_73276753delinsCCATCA2146520926NUMBc.1781_1784delinsATGG (p.Asp594=)
c.1637_1640delinsATGG (p.Asp546=)
c.1748_1751delinsATGG (p.Asp583=)
c.1196_1199delinsATGG (p.Asp399=)
c.1163_1166delinsATGG (p.Asp388=)
c.1604_1607delinsATGG (p.Asp535=)
c.1310_1313delinsATGG (p.Asp437=)
c.1349_1352delinsATGG (p.Asp450=)
c.1343_1346delinsATGG (p.Asp448=)
c.1739_1742delinsATGG (p.Asp580=)
c.1772_1775delinsATGG (p.Asp591=)
c.1628_1631delinsATGG (p.Asp543=)
c.1487_1490delinsATGG (p.Asp496=)
14g.73276751C>ACA390336344NUMBc.1783G>T (p.Gly595Cys)
c.1639G>T (p.Gly547Cys)
c.1750G>T (p.Gly584Cys)
c.1198G>T (p.Gly400Cys)
c.1165G>T (p.Gly389Cys)
c.1606G>T (p.Gly536Cys)
c.1312G>T (p.Gly438Cys)
c.1351G>T (p.Gly451Cys)
c.1345G>T (p.Gly449Cys)
c.1741G>T (p.Gly581Cys)
c.1774G>T (p.Gly592Cys)
c.1630G>T (p.Gly544Cys)
c.1489G>T (p.Gly497Cys)
14g.73276751C>GCA390336351NUMBc.1783G>C (p.Gly595Arg)
c.1639G>C (p.Gly547Arg)
c.1750G>C (p.Gly584Arg)
c.1198G>C (p.Gly400Arg)
c.1165G>C (p.Gly389Arg)
c.1606G>C (p.Gly536Arg)
c.1312G>C (p.Gly438Arg)
c.1351G>C (p.Gly451Arg)
c.1345G>C (p.Gly449Arg)
c.1741G>C (p.Gly581Arg)
c.1774G>C (p.Gly592Arg)
c.1630G>C (p.Gly544Arg)
c.1489G>C (p.Gly497Arg)
 gnomAD v4
14g.73276751C>TCA390336354NUMBc.1783G>A (p.Gly595Ser)
c.1639G>A (p.Gly547Ser)
c.1750G>A (p.Gly584Ser)
c.1198G>A (p.Gly400Ser)
c.1165G>A (p.Gly389Ser)
c.1606G>A (p.Gly536Ser)
c.1312G>A (p.Gly438Ser)
c.1351G>A (p.Gly451Ser)
c.1345G>A (p.Gly449Ser)
c.1741G>A (p.Gly581Ser)
c.1774G>A (p.Gly592Ser)
c.1630G>A (p.Gly544Ser)
c.1489G>A (p.Gly497Ser)
14g.73276755_73276757delCA7258650NUMBc.1781_1783del (p.Asp594del)
c.1637_1639del (p.Asp546del)
c.1748_1750del (p.Asp583del)
c.1196_1198del (p.Asp399del)
c.1163_1165del (p.Asp388del)
c.1604_1606del (p.Asp535del)
c.1310_1312del (p.Asp437del)
c.1349_1351del (p.Asp450del)
c.1343_1345del (p.Asp448del)
c.1739_1741del (p.Asp580del)
c.1772_1774del (p.Asp591del)
c.1628_1630del (p.Asp543del)
c.1487_1489del (p.Asp496del)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.73276752A=CA2146520928NUMBc.1782T= (p.Asp594=)
c.1638T= (p.Asp546=)
c.1749T= (p.Asp583=)
c.1197T= (p.Asp399=)
c.1164T= (p.Asp388=)
c.1605T= (p.Asp535=)
c.1311T= (p.Asp437=)
c.1350T= (p.Asp450=)
c.1344T= (p.Asp448=)
c.1740T= (p.Asp580=)
c.1773T= (p.Asp591=)
c.1629T= (p.Asp543=)
c.1488T= (p.Asp496=)
14g.73276752A>CCA390336358NUMBc.1782T>G (p.Asp594Glu)
c.1638T>G (p.Asp546Glu)
c.1749T>G (p.Asp583Glu)
c.1197T>G (p.Asp399Glu)
c.1164T>G (p.Asp388Glu)
c.1605T>G (p.Asp535Glu)
c.1311T>G (p.Asp437Glu)
c.1350T>G (p.Asp450Glu)
c.1344T>G (p.Asp448Glu)
c.1740T>G (p.Asp580Glu)
c.1773T>G (p.Asp591Glu)
c.1629T>G (p.Asp543Glu)
c.1488T>G (p.Asp496Glu)
14g.73276752A>GCA7258651NUMBc.1782T>C (p.Asp594=)
c.1638T>C (p.Asp546=)
c.1749T>C (p.Asp583=)
c.1197T>C (p.Asp399=)
c.1164T>C (p.Asp388=)
c.1605T>C (p.Asp535=)
c.1311T>C (p.Asp437=)
c.1350T>C (p.Asp450=)
c.1344T>C (p.Asp448=)
c.1740T>C (p.Asp580=)
c.1773T>C (p.Asp591=)
c.1629T>C (p.Asp543=)
c.1488T>C (p.Asp496=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.73276752A>TCA390336363NUMBc.1782T>A (p.Asp594Glu)
c.1638T>A (p.Asp546Glu)
c.1749T>A (p.Asp583Glu)
c.1197T>A (p.Asp399Glu)
c.1164T>A (p.Asp388Glu)
c.1605T>A (p.Asp535Glu)
c.1311T>A (p.Asp437Glu)
c.1350T>A (p.Asp450Glu)
c.1344T>A (p.Asp448Glu)
c.1740T>A (p.Asp580Glu)
c.1773T>A (p.Asp591Glu)
c.1629T>A (p.Asp543Glu)
c.1488T>A (p.Asp496Glu)
14g.73276753T>ACA390336375NUMBc.1781A>T (p.Asp594Val)
c.1637A>T (p.Asp546Val)
c.1748A>T (p.Asp583Val)
c.1196A>T (p.Asp399Val)
c.1163A>T (p.Asp388Val)
c.1604A>T (p.Asp535Val)
c.1310A>T (p.Asp437Val)
c.1349A>T (p.Asp450Val)
c.1343A>T (p.Asp448Val)
c.1739A>T (p.Asp580Val)
c.1772A>T (p.Asp591Val)
c.1628A>T (p.Asp543Val)
c.1487A>T (p.Asp496Val)
 COSMIC
14g.73276753T>CCA390336380NUMBc.1781A>G (p.Asp594Gly)
c.1637A>G (p.Asp546Gly)
c.1748A>G (p.Asp583Gly)
c.1196A>G (p.Asp399Gly)
c.1163A>G (p.Asp388Gly)
c.1604A>G (p.Asp535Gly)
c.1310A>G (p.Asp437Gly)
c.1349A>G (p.Asp450Gly)
c.1343A>G (p.Asp448Gly)
c.1739A>G (p.Asp580Gly)
c.1772A>G (p.Asp591Gly)
c.1628A>G (p.Asp543Gly)
c.1487A>G (p.Asp496Gly)
14g.73276753T>GCA390336372NUMBc.1781A>C (p.Asp594Ala)
c.1637A>C (p.Asp546Ala)
c.1748A>C (p.Asp583Ala)
c.1196A>C (p.Asp399Ala)
c.1163A>C (p.Asp388Ala)
c.1604A>C (p.Asp535Ala)
c.1310A>C (p.Asp437Ala)
c.1349A>C (p.Asp450Ala)
c.1343A>C (p.Asp448Ala)
c.1739A>C (p.Asp580Ala)
c.1772A>C (p.Asp591Ala)
c.1628A>C (p.Asp543Ala)
c.1487A>C (p.Asp496Ala)
14g.73276754C>ACA390336384NUMBc.1780G>T (p.Asp594Tyr)
c.1636G>T (p.Asp546Tyr)
c.1747G>T (p.Asp583Tyr)
c.1195G>T (p.Asp399Tyr)
c.1162G>T (p.Asp388Tyr)
c.1603G>T (p.Asp535Tyr)
c.1309G>T (p.Asp437Tyr)
c.1348G>T (p.Asp450Tyr)
c.1342G>T (p.Asp448Tyr)
c.1738G>T (p.Asp580Tyr)
c.1771G>T (p.Asp591Tyr)
c.1627G>T (p.Asp543Tyr)
c.1486G>T (p.Asp496Tyr)
14g.73276754C>GCA390336385NUMBc.1780G>C (p.Asp594His)
c.1636G>C (p.Asp546His)
c.1747G>C (p.Asp583His)
c.1195G>C (p.Asp399His)
c.1162G>C (p.Asp388His)
c.1603G>C (p.Asp535His)
c.1309G>C (p.Asp437His)
c.1348G>C (p.Asp450His)
c.1342G>C (p.Asp448His)
c.1738G>C (p.Asp580His)
c.1771G>C (p.Asp591His)
c.1627G>C (p.Asp543His)
c.1486G>C (p.Asp496His)
14g.73276754C>TCA390336387NUMBc.1780G>A (p.Asp594Asn)
c.1636G>A (p.Asp546Asn)
c.1747G>A (p.Asp583Asn)
c.1195G>A (p.Asp399Asn)
c.1162G>A (p.Asp388Asn)
c.1603G>A (p.Asp535Asn)
c.1309G>A (p.Asp437Asn)
c.1348G>A (p.Asp450Asn)
c.1342G>A (p.Asp448Asn)
c.1738G>A (p.Asp580Asn)
c.1771G>A (p.Asp591Asn)
c.1627G>A (p.Asp543Asn)
c.1486G>A (p.Asp496Asn)
14g.73276754_73276755insGAGCA964637043NUMBc.1779_1780insCTC (p.Asp593_Asp594insLeu)
c.1635_1636insCTC (p.Asp545_Asp546insLeu)
c.1746_1747insCTC (p.Asp582_Asp583insLeu)
c.1194_1195insCTC (p.Asp398_Asp399insLeu)
c.1161_1162insCTC (p.Asp387_Asp388insLeu)
c.1602_1603insCTC (p.Asp534_Asp535insLeu)
c.1308_1309insCTC (p.Asp436_Asp437insLeu)
c.1347_1348insCTC (p.Asp449_Asp450insLeu)
c.1341_1342insCTC (p.Asp447_Asp448insLeu)
c.1737_1738insCTC (p.Asp579_Asp580insLeu)
c.1770_1771insCTC (p.Asp590_Asp591insLeu)
c.1626_1627insCTC (p.Asp542_Asp543insLeu)
c.1485_1486insCTC (p.Asp495_Asp496insLeu)
 gnomAD v3 gnomAD v4
14g.73276755A=CA2146520929NUMBc.1779T= (p.Asp593=)
c.1635T= (p.Asp545=)
c.1746T= (p.Asp582=)
c.1194T= (p.Asp398=)
c.1161T= (p.Asp387=)
c.1602T= (p.Asp534=)
c.1308T= (p.Asp436=)
c.1347T= (p.Asp449=)
c.1341T= (p.Asp447=)
c.1737T= (p.Asp579=)
c.1770T= (p.Asp590=)
c.1626T= (p.Asp542=)
c.1485T= (p.Asp495=)
14g.73276755A>CCA390336389NUMBc.1779T>G (p.Asp593Glu)
c.1635T>G (p.Asp545Glu)
c.1746T>G (p.Asp582Glu)
c.1194T>G (p.Asp398Glu)
c.1161T>G (p.Asp387Glu)
c.1602T>G (p.Asp534Glu)
c.1308T>G (p.Asp436Glu)
c.1347T>G (p.Asp449Glu)
c.1341T>G (p.Asp447Glu)
c.1737T>G (p.Asp579Glu)
c.1770T>G (p.Asp590Glu)
c.1626T>G (p.Asp542Glu)
c.1485T>G (p.Asp495Glu)
14g.73276755A>GCA262630532NUMBc.1779T>C (p.Asp593=)
c.1635T>C (p.Asp545=)
c.1746T>C (p.Asp582=)
c.1194T>C (p.Asp398=)
c.1161T>C (p.Asp387=)
c.1602T>C (p.Asp534=)
c.1308T>C (p.Asp436=)
c.1347T>C (p.Asp449=)
c.1341T>C (p.Asp447=)
c.1737T>C (p.Asp579=)
c.1770T>C (p.Asp590=)
c.1626T>C (p.Asp542=)
c.1485T>C (p.Asp495=)
 dbSNP gnomAD v4
14g.73276755A>TCA390336391NUMBc.1779T>A (p.Asp593Glu)
c.1635T>A (p.Asp545Glu)
c.1746T>A (p.Asp582Glu)
c.1194T>A (p.Asp398Glu)
c.1161T>A (p.Asp387Glu)
c.1602T>A (p.Asp534Glu)
c.1308T>A (p.Asp436Glu)
c.1347T>A (p.Asp449Glu)
c.1341T>A (p.Asp447Glu)
c.1737T>A (p.Asp579Glu)
c.1770T>A (p.Asp590Glu)
c.1626T>A (p.Asp542Glu)
c.1485T>A (p.Asp495Glu)
14g.73276756T>ACA390336404NUMBc.1778A>T (p.Asp593Val)
c.1634A>T (p.Asp545Val)
c.1745A>T (p.Asp582Val)
c.1193A>T (p.Asp398Val)
c.1160A>T (p.Asp387Val)
c.1601A>T (p.Asp534Val)
c.1307A>T (p.Asp436Val)
c.1346A>T (p.Asp449Val)
c.1340A>T (p.Asp447Val)
c.1736A>T (p.Asp579Val)
c.1769A>T (p.Asp590Val)
c.1625A>T (p.Asp542Val)
c.1484A>T (p.Asp495Val)
14g.73276756T>CCA390336399NUMBc.1778A>G (p.Asp593Gly)
c.1634A>G (p.Asp545Gly)
c.1745A>G (p.Asp582Gly)
c.1193A>G (p.Asp398Gly)
c.1160A>G (p.Asp387Gly)
c.1601A>G (p.Asp534Gly)
c.1307A>G (p.Asp436Gly)
c.1346A>G (p.Asp449Gly)
c.1340A>G (p.Asp447Gly)
c.1736A>G (p.Asp579Gly)
c.1769A>G (p.Asp590Gly)
c.1625A>G (p.Asp542Gly)
c.1484A>G (p.Asp495Gly)
14g.73276756T>GCA390336396NUMBc.1778A>C (p.Asp593Ala)
c.1634A>C (p.Asp545Ala)
c.1745A>C (p.Asp582Ala)
c.1193A>C (p.Asp398Ala)
c.1160A>C (p.Asp387Ala)
c.1601A>C (p.Asp534Ala)
c.1307A>C (p.Asp436Ala)
c.1346A>C (p.Asp449Ala)
c.1340A>C (p.Asp447Ala)
c.1736A>C (p.Asp579Ala)
c.1769A>C (p.Asp590Ala)
c.1625A>C (p.Asp542Ala)
c.1484A>C (p.Asp495Ala)
 COSMIC

Number of alleles fetched