Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.73276650C>A | CA390335789 | NUMB | c.1884G>T (p.Lys628Asn) c.1740G>T (p.Lys580Asn) c.1851G>T (p.Lys617Asn) c.1299G>T (p.Lys433Asn) c.1266G>T (p.Lys422Asn) c.1707G>T (p.Lys569Asn) c.1413G>T (p.Lys471Asn) c.1452G>T (p.Lys484Asn) c.1446G>T (p.Lys482Asn) c.1842G>T (p.Lys614Asn) c.1875G>T (p.Lys625Asn) c.1731G>T (p.Lys577Asn) c.1590G>T (p.Lys530Asn) | |
14 | g.73276650C>G | CA390335792 | NUMB | c.1884G>C (p.Lys628Asn) c.1740G>C (p.Lys580Asn) c.1851G>C (p.Lys617Asn) c.1299G>C (p.Lys433Asn) c.1266G>C (p.Lys422Asn) c.1707G>C (p.Lys569Asn) c.1413G>C (p.Lys471Asn) c.1452G>C (p.Lys484Asn) c.1446G>C (p.Lys482Asn) c.1842G>C (p.Lys614Asn) c.1875G>C (p.Lys625Asn) c.1731G>C (p.Lys577Asn) c.1590G>C (p.Lys530Asn) | |
14 | g.73276650C>T | CA487257187 | NUMB | c.1884G>A (p.Lys628=) c.1740G>A (p.Lys580=) c.1851G>A (p.Lys617=) c.1299G>A (p.Lys433=) c.1266G>A (p.Lys422=) c.1707G>A (p.Lys569=) c.1413G>A (p.Lys471=) c.1452G>A (p.Lys484=) c.1446G>A (p.Lys482=) c.1842G>A (p.Lys614=) c.1875G>A (p.Lys625=) c.1731G>A (p.Lys577=) c.1590G>A (p.Lys530=) | |
14 | g.73276651T>A | CA390335796 | NUMB | c.1883A>T (p.Lys628Met) c.1739A>T (p.Lys580Met) c.1850A>T (p.Lys617Met) c.1298A>T (p.Lys433Met) c.1265A>T (p.Lys422Met) c.1706A>T (p.Lys569Met) c.1412A>T (p.Lys471Met) c.1451A>T (p.Lys484Met) c.1445A>T (p.Lys482Met) c.1841A>T (p.Lys614Met) c.1874A>T (p.Lys625Met) c.1730A>T (p.Lys577Met) c.1589A>T (p.Lys530Met) | |
14 | g.73276651T>C | CA390335799 | NUMB | c.1883A>G (p.Lys628Arg) c.1739A>G (p.Lys580Arg) c.1850A>G (p.Lys617Arg) c.1298A>G (p.Lys433Arg) c.1265A>G (p.Lys422Arg) c.1706A>G (p.Lys569Arg) c.1412A>G (p.Lys471Arg) c.1451A>G (p.Lys484Arg) c.1445A>G (p.Lys482Arg) c.1841A>G (p.Lys614Arg) c.1874A>G (p.Lys625Arg) c.1730A>G (p.Lys577Arg) c.1589A>G (p.Lys530Arg) | |
14 | g.73276651T>G | CA390335800 | NUMB | c.1883A>C (p.Lys628Thr) c.1739A>C (p.Lys580Thr) c.1850A>C (p.Lys617Thr) c.1298A>C (p.Lys433Thr) c.1265A>C (p.Lys422Thr) c.1706A>C (p.Lys569Thr) c.1412A>C (p.Lys471Thr) c.1451A>C (p.Lys484Thr) c.1445A>C (p.Lys482Thr) c.1841A>C (p.Lys614Thr) c.1874A>C (p.Lys625Thr) c.1730A>C (p.Lys577Thr) c.1589A>C (p.Lys530Thr) | |
14 | g.73276652T>A | CA390335801 | NUMB | c.1882A>T (p.Lys628Ter) c.1738A>T (p.Lys580Ter) c.1849A>T (p.Lys617Ter) c.1297A>T (p.Lys433Ter) c.1264A>T (p.Lys422Ter) c.1705A>T (p.Lys569Ter) c.1411A>T (p.Lys471Ter) c.1450A>T (p.Lys484Ter) c.1444A>T (p.Lys482Ter) c.1840A>T (p.Lys614Ter) c.1873A>T (p.Lys625Ter) c.1729A>T (p.Lys577Ter) c.1588A>T (p.Lys530Ter) | |
14 | g.73276652T>C | CA390335802 | NUMB | c.1882A>G (p.Lys628Glu) c.1738A>G (p.Lys580Glu) c.1849A>G (p.Lys617Glu) c.1297A>G (p.Lys433Glu) c.1264A>G (p.Lys422Glu) c.1705A>G (p.Lys569Glu) c.1411A>G (p.Lys471Glu) c.1450A>G (p.Lys484Glu) c.1444A>G (p.Lys482Glu) c.1840A>G (p.Lys614Glu) c.1873A>G (p.Lys625Glu) c.1729A>G (p.Lys577Glu) c.1588A>G (p.Lys530Glu) | gnomAD v4 |
14 | g.73276652T>G | CA390335803 | NUMB | c.1882A>C (p.Lys628Gln) c.1738A>C (p.Lys580Gln) c.1849A>C (p.Lys617Gln) c.1297A>C (p.Lys433Gln) c.1264A>C (p.Lys422Gln) c.1705A>C (p.Lys569Gln) c.1411A>C (p.Lys471Gln) c.1450A>C (p.Lys484Gln) c.1444A>C (p.Lys482Gln) c.1840A>C (p.Lys614Gln) c.1873A>C (p.Lys625Gln) c.1729A>C (p.Lys577Gln) c.1588A>C (p.Lys530Gln) | |
14 | g.73276653G>A | CA487257209 | NUMB | c.1881C>T (p.Ser627=) c.1737C>T (p.Ser579=) c.1848C>T (p.Ser616=) c.1296C>T (p.Ser432=) c.1263C>T (p.Ser421=) c.1704C>T (p.Ser568=) c.1410C>T (p.Ser470=) c.1449C>T (p.Ser483=) c.1443C>T (p.Ser481=) c.1839C>T (p.Ser613=) c.1872C>T (p.Ser624=) c.1728C>T (p.Ser576=) c.1587C>T (p.Ser529=) | dbSNP gnomAD v4 |
14 | g.73276653G>C | CA487257211 | NUMB | c.1881C>G (p.Ser627=) c.1737C>G (p.Ser579=) c.1848C>G (p.Ser616=) c.1296C>G (p.Ser432=) c.1263C>G (p.Ser421=) c.1704C>G (p.Ser568=) c.1410C>G (p.Ser470=) c.1449C>G (p.Ser483=) c.1443C>G (p.Ser481=) c.1839C>G (p.Ser613=) c.1872C>G (p.Ser624=) c.1728C>G (p.Ser576=) c.1587C>G (p.Ser529=) | |
14 | g.73276653G= | CA2146520875 | NUMB | c.1881C= (p.Ser627=) c.1737C= (p.Ser579=) c.1848C= (p.Ser616=) c.1296C= (p.Ser432=) c.1263C= (p.Ser421=) c.1704C= (p.Ser568=) c.1410C= (p.Ser470=) c.1449C= (p.Ser483=) c.1443C= (p.Ser481=) c.1839C= (p.Ser613=) c.1872C= (p.Ser624=) c.1728C= (p.Ser576=) c.1587C= (p.Ser529=) | |
14 | g.73276653G>T | CA487257212 | NUMB | c.1881C>A (p.Ser627=) c.1737C>A (p.Ser579=) c.1848C>A (p.Ser616=) c.1296C>A (p.Ser432=) c.1263C>A (p.Ser421=) c.1704C>A (p.Ser568=) c.1410C>A (p.Ser470=) c.1449C>A (p.Ser483=) c.1443C>A (p.Ser481=) c.1839C>A (p.Ser613=) c.1872C>A (p.Ser624=) c.1728C>A (p.Ser576=) c.1587C>A (p.Ser529=) | |
14 | g.73276654G>A | CA7258625 | NUMB | c.1880C>T (p.Ser627Phe) c.1736C>T (p.Ser579Phe) c.1847C>T (p.Ser616Phe) c.1295C>T (p.Ser432Phe) c.1262C>T (p.Ser421Phe) c.1703C>T (p.Ser568Phe) c.1409C>T (p.Ser470Phe) c.1448C>T (p.Ser483Phe) c.1442C>T (p.Ser481Phe) c.1838C>T (p.Ser613Phe) c.1871C>T (p.Ser624Phe) c.1727C>T (p.Ser576Phe) c.1586C>T (p.Ser529Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.73276654G>C | CA390335806 | NUMB | c.1880C>G (p.Ser627Cys) c.1736C>G (p.Ser579Cys) c.1847C>G (p.Ser616Cys) c.1295C>G (p.Ser432Cys) c.1262C>G (p.Ser421Cys) c.1703C>G (p.Ser568Cys) c.1409C>G (p.Ser470Cys) c.1448C>G (p.Ser483Cys) c.1442C>G (p.Ser481Cys) c.1838C>G (p.Ser613Cys) c.1871C>G (p.Ser624Cys) c.1727C>G (p.Ser576Cys) c.1586C>G (p.Ser529Cys) | dbSNP |
14 | g.73276654G= | CA2146520876 | NUMB | c.1880C= (p.Ser627=) c.1736C= (p.Ser579=) c.1847C= (p.Ser616=) c.1295C= (p.Ser432=) c.1262C= (p.Ser421=) c.1703C= (p.Ser568=) c.1409C= (p.Ser470=) c.1448C= (p.Ser483=) c.1442C= (p.Ser481=) c.1838C= (p.Ser613=) c.1871C= (p.Ser624=) c.1727C= (p.Ser576=) c.1586C= (p.Ser529=) | |
14 | g.73276654G>T | CA390335810 | NUMB | c.1880C>A (p.Ser627Tyr) c.1736C>A (p.Ser579Tyr) c.1847C>A (p.Ser616Tyr) c.1295C>A (p.Ser432Tyr) c.1262C>A (p.Ser421Tyr) c.1703C>A (p.Ser568Tyr) c.1409C>A (p.Ser470Tyr) c.1448C>A (p.Ser483Tyr) c.1442C>A (p.Ser481Tyr) c.1838C>A (p.Ser613Tyr) c.1871C>A (p.Ser624Tyr) c.1727C>A (p.Ser576Tyr) c.1586C>A (p.Ser529Tyr) | |
14 | g.73276655A>C | CA390335815 | NUMB | c.1879T>G (p.Ser627Ala) c.1735T>G (p.Ser579Ala) c.1846T>G (p.Ser616Ala) c.1294T>G (p.Ser432Ala) c.1261T>G (p.Ser421Ala) c.1702T>G (p.Ser568Ala) c.1408T>G (p.Ser470Ala) c.1447T>G (p.Ser483Ala) c.1441T>G (p.Ser481Ala) c.1837T>G (p.Ser613Ala) c.1870T>G (p.Ser624Ala) c.1726T>G (p.Ser576Ala) c.1585T>G (p.Ser529Ala) | |
14 | g.73276655A>G | CA390335812 | NUMB | c.1879T>C (p.Ser627Pro) c.1735T>C (p.Ser579Pro) c.1846T>C (p.Ser616Pro) c.1294T>C (p.Ser432Pro) c.1261T>C (p.Ser421Pro) c.1702T>C (p.Ser568Pro) c.1408T>C (p.Ser470Pro) c.1447T>C (p.Ser483Pro) c.1441T>C (p.Ser481Pro) c.1837T>C (p.Ser613Pro) c.1870T>C (p.Ser624Pro) c.1726T>C (p.Ser576Pro) c.1585T>C (p.Ser529Pro) | |
14 | g.73276655A>T | CA390335813 | NUMB | c.1879T>A (p.Ser627Thr) c.1735T>A (p.Ser579Thr) c.1846T>A (p.Ser616Thr) c.1294T>A (p.Ser432Thr) c.1261T>A (p.Ser421Thr) c.1702T>A (p.Ser568Thr) c.1408T>A (p.Ser470Thr) c.1447T>A (p.Ser483Thr) c.1441T>A (p.Ser481Thr) c.1837T>A (p.Ser613Thr) c.1870T>A (p.Ser624Thr) c.1726T>A (p.Ser576Thr) c.1585T>A (p.Ser529Thr) | |
14 | g.73276656_73276659dup | CA7258624 | NUMB | c.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 |
14 | g.73276656C>A | CA390335819 | NUMB | c.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) | |
14 | g.73276656C>G | CA390335821 | NUMB | c.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) | |
14 | g.73276656C>T | CA487257226 | NUMB | c.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=) | |
14 | g.73276657T>A | CA390335825 | NUMB | c.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) | |
14 | g.73276657T>C | CA7258626 | NUMB | c.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 |
14 | g.73276657T>G | CA390335828 | NUMB | c.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) | |
14 | g.73276657T= | CA2146520877 | NUMB | c.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=) | |
14 | g.73276659_73276661dup | CA2625569048 | NUMB | c.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 |
14 | g.73276658T>A | CA390335831 | NUMB | c.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) | |
14 | g.73276658T>C | CA390335832 | NUMB | c.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) | |
14 | g.73276658T>G | CA390335835 | NUMB | c.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 |
14 | g.73276659A= | CA2146520878 | NUMB | c.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=) | |
14 | g.73276659A>C | CA390335837 | NUMB | c.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) | |
14 | g.73276659A>G | CA7258627 | NUMB | c.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 |
14 | g.73276659A>T | CA390335838 | NUMB | c.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) | |
14 | g.73276660T>A | CA390335840 | NUMB | c.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) | |
14 | g.73276660T>C | CA7258628 | NUMB | c.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 |
14 | g.73276660T>G | CA390335839 | NUMB | c.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) | |
14 | g.73276660T= | CA2146520879 | NUMB | c.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=) | |
14 | g.73276661T>A | CA390335846 | NUMB | c.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) | |
14 | g.73276661T>C | CA390335847 | NUMB | c.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 |
14 | g.73276661T>G | CA390335843 | NUMB | c.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 |
14 | g.73276661T= | CA2146520880 | NUMB | c.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=) | |
14 | g.73276661_73276676dup | CA7258629 | NUMB | c.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 |
14 | g.73276662T>A | CA390335849 | NUMB | c.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) | |
14 | g.73276662T>C | CA487257256 | NUMB | c.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=) | |
14 | g.73276662T>G | CA262630494 | NUMB | c.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 |
14 | g.73276662T= | CA2146520881 | NUMB | c.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=) | |
14 | g.73276663T>A | CA390335852 | NUMB | c.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) | |
14 | g.73276663T>C | CA390335854 | NUMB | c.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) | |
14 | g.73276663T>G | CA390335856 | NUMB | c.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) | |
14 | g.73276664C>A | CA390335859 | NUMB | c.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) | |
14 | g.73276664C>G | CA390335863 | NUMB | c.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) | |
14 | g.73276664C>T | CA390335867 | NUMB | c.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) | |
14 | g.73276665T>A | CA390335870 | NUMB | c.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) | |
14 | g.73276665T>C | CA487257274 | NUMB | c.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=) | |
14 | g.73276665T>G | CA390335874 | NUMB | c.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 |
14 | g.73276665T= | CA2146520882 | NUMB | c.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=) | |
14 | g.73276666A>C | CA390335881 | NUMB | c.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) | |
14 | g.73276666A>G | CA390335879 | NUMB | c.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) | |
14 | g.73276666A>T | CA390335878 | NUMB | c.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) | |
14 | g.73276667A>C | CA390335882 | NUMB | c.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) | |
14 | g.73276667A>G | CA487257278 | NUMB | c.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 |
14 | g.73276667A>T | CA390335884 | NUMB | c.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) | |
14 | g.73276668T>A | CA487257288 | NUMB | c.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=) | |
14 | g.73276668T>C | CA487257285 | NUMB | c.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 |
14 | g.73276668T>G | CA487257287 | NUMB | c.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=) | |
14 | g.73276668T= | CA2146520883 | NUMB | c.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=) | |
14 | g.73276669G>A | CA390335886 | NUMB | c.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 |
14 | g.73276669G>C | CA390335888 | NUMB | c.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) | |
14 | g.73276669G= | CA2146520884 | NUMB | c.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=) | |
14 | g.73276669G>T | CA390335890 | NUMB | c.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) | |
14 | g.73276670C>A | CA390335892 | NUMB | c.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) | |
14 | g.73276670C= | CA2146520885 | NUMB | c.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=) | |
14 | g.73276670C>G | CA390335895 | NUMB | c.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) | |
14 | g.73276670C>T | CA7258630 | NUMB | c.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 |
14 | g.73276671A>C | CA487257297 | NUMB | c.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=) | |
14 | g.73276671A>G | CA487257299 | NUMB | c.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=) | |
14 | g.73276671A>T | CA487257298 | NUMB | c.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=) | |
14 | g.73276672G>A | CA390335901 | NUMB | c.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 |
14 | g.73276672G>C | CA390335903 | NUMB | c.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) | |
14 | g.73276672G= | CA2146520887 | NUMB | c.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=) | |
14 | g.73276672G>T | CA390335905 | NUMB | c.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) | |
14 | g.73276672_73276673delinsGC | CA2146520886 | NUMB | c.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=) | |
14 | g.73276673C>A | CA262630498 | NUMB | c.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 |
14 | g.73276673C= | CA2146520888 | NUMB | c.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=) | |
14 | g.73276673C>G | CA390335921 | NUMB | c.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) | |
14 | g.73276673C>T | CA390335916 | NUMB | c.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) | |
14 | g.73276675del | CA7258631 | NUMB | c.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 |
14 | g.73276673_73276693delinsCCCACTGGGCTTCAAAAGGAT | CA2146520889 | NUMB | c.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=) | |
14 | g.73276674C>A | CA390335923 | NUMB | c.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) | |
14 | g.73276674C= | CA2146520890 | NUMB | c.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=) | |
14 | g.73276674C>G | CA390335925 | NUMB | c.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) | |
14 | g.73276674C>T | CA7258632 | NUMB | c.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 |
14 | g.73276683_73276702del | CA964636976 | NUMB | c.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 |
14 | g.73276675C>A | CA390335927 | NUMB | c.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) | |
14 | g.73276675C>G | CA390335928 | NUMB | c.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 |
14 | g.73276675C>T | CA390335931 | NUMB | c.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) | |
14 | g.73276676A>C | CA390335934 | NUMB | c.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) | |
14 | g.73276676A>G | CA390335932 | NUMB | c.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) | |
14 | g.73276676A>T | CA390335933 | NUMB | c.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) | |
14 | g.73276677C>A | CA390335935 | NUMB | c.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) | |
14 | g.73276677C>G | CA390335937 | NUMB | c.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) | |
14 | g.73276677C>T | CA487257325 | NUMB | c.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 |
14 | g.73276678T>A | CA390335938 | NUMB | c.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) | |
14 | g.73276678T>C | CA390335945 | NUMB | c.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 |
14 | g.73276678T>G | CA390335947 | NUMB | c.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 |
14 | g.73276678T= | CA2146520891 | NUMB | c.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=) | |
14 | g.73276679G>A | CA390335949 | NUMB | c.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) | |
14 | g.73276679G>C | CA390335955 | NUMB | c.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) | |
14 | g.73276679G>T | CA390335953 | NUMB | c.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) | |
14 | g.73276680G>A | CA487257332 | NUMB | c.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 |
14 | g.73276680G>C | CA7258633 | NUMB | c.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 |
14 | g.73276680G= | CA2146520892 | NUMB | c.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=) | |
14 | g.73276680G>T | CA487257335 | NUMB | c.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=) | |
14 | g.73276681G>A | CA390335958 | NUMB | c.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) | |
14 | g.73276681G>C | CA390335960 | NUMB | c.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) | |
14 | g.73276681G>T | CA390335961 | NUMB | c.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) | |
14 | g.73276682C>A | CA390335963 | NUMB | c.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) | |
14 | g.73276682C>G | CA390335964 | NUMB | c.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) | |
14 | g.73276682C>T | CA390335966 | NUMB | c.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) | |
14 | g.73276683T>A | CA390335967 | NUMB | c.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) | |
14 | g.73276683T>C | CA487257346 | NUMB | c.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=) | |
14 | g.73276683T>G | CA390335973 | NUMB | c.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) | |
14 | g.73276684T>A | CA390335975 | NUMB | c.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) | |
14 | g.73276684T>C | CA390335976 | NUMB | c.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) | |
14 | g.73276684T>G | CA7258634 | NUMB | c.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 |
14 | g.73276684T= | CA2146520893 | NUMB | c.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=) | |
14 | g.73276685C>A | CA390335977 | NUMB | c.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) | |
14 | g.73276685C= | CA2146520894 | NUMB | c.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=) | |
14 | g.73276685C>G | CA390335978 | NUMB | c.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) | |
14 | g.73276685C>T | CA7258635 | NUMB | c.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 |
14 | g.73276685_73276686delinsCA | CA2146520895 | NUMB | c.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=) | |
14 | g.73276686A>C | CA390335983 | NUMB | c.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) | |
14 | g.73276686A>G | CA487257358 | NUMB | c.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=) | |
14 | g.73276686A>T | CA390335988 | NUMB | c.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) | |
14 | g.73276689del | CA964636995 | NUMB | c.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 |
14 | g.73276687A>C | CA390335992 | NUMB | c.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) | |
14 | g.73276687A>G | CA390335995 | NUMB | c.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) | |
14 | g.73276687A>T | CA390335997 | NUMB | c.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) | |
14 | g.73276688A>C | CA390335998 | NUMB | c.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) | |
14 | g.73276688A>G | CA390336005 | NUMB | c.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) | |
14 | g.73276688A>T | CA390336006 | NUMB | c.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) | |
14 | g.73276689A>C | CA487257366 | NUMB | c.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 |
14 | g.73276689A>G | CA487257367 | NUMB | c.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=) | |
14 | g.73276689A>T | CA487257369 | NUMB | c.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=) | |
14 | g.73276689_73276691delinsAGG | CA2146520896 | NUMB | c.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=) | |
14 | g.73276690G>A | CA390336008 | NUMB | c.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) | |
14 | g.73276690G>C | CA390336009 | NUMB | c.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) | |
14 | g.73276690G>T | CA390336010 | NUMB | c.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) | |
14 | g.73276690_73276691del | CA7258636 | NUMB | c.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 |
14 | g.73276691G>A | CA390336011 | NUMB | c.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 |
14 | g.73276691G>C | CA390336013 | NUMB | c.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 |
14 | g.73276691G>T | CA390336014 | NUMB | c.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) | |
14 | g.73276692A>C | CA390336015 | NUMB | c.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) | |
14 | g.73276692A>G | CA487257384 | NUMB | c.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=) | |
14 | g.73276692A>T | CA390336016 | NUMB | c.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) | |
14 | g.73276692_73276694delinsATC | CA2146520897 | NUMB | c.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=) | |
14 | g.73276693T>A | CA262630506 | NUMB | c.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 |
14 | g.73276693T>C | CA390336017 | NUMB | c.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) | |
14 | g.73276693T>G | CA390336020 | NUMB | c.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) | |
14 | g.73276693T= | CA2146520898 | NUMB | c.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=) | |
14 | g.73276693_73276694del | CA7258637 | NUMB | c.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 |
14 | g.73276694C>A | CA390336034 | NUMB | c.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) | |
14 | g.73276694C>G | CA390336035 | NUMB | c.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) | |
14 | g.73276694C>T | CA390336036 | NUMB | c.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) | |
14 | g.73276695C>A | CA487257398 | NUMB | c.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=) | |
14 | g.73276695C= | CA2146520899 | NUMB | c.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=) | |
14 | g.73276695C>G | CA487257400 | NUMB | c.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=) | |
14 | g.73276695C>T | CA487257401 | NUMB | c.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 |
14 | g.73276696A= | CA2146520900 | NUMB | c.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=) | |
14 | g.73276696A>C | CA7258638 | NUMB | c.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 |
14 | g.73276696A>G | CA390336037 | NUMB | c.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) | |
14 | g.73276696A>T | CA390336039 | NUMB | c.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 |
14 | g.73276697C>A | CA390336041 | NUMB | c.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) | |
14 | g.73276697C>G | CA390336043 | NUMB | c.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) | |
14 | g.73276697C>T | CA390336044 | NUMB | c.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) | |
14 | g.73276698T>A | CA487257420 | NUMB | c.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=) | |
14 | g.73276698T>C | CA487257421 | NUMB | c.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=) | |
14 | g.73276698T>G | CA487257422 | NUMB | c.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=) | |
14 | g.73276699G>A | CA390336049 | NUMB | c.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) | |
14 | g.73276699G>C | CA390336046 | NUMB | c.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) | |
14 | g.73276699G>T | CA390336047 | NUMB | c.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) | |
14 | g.73276700G>A | CA390336052 | NUMB | c.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) | |
14 | g.73276700G>C | CA390336053 | NUMB | c.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) | |
14 | g.73276700G>T | CA390336055 | NUMB | c.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 |
14 | g.73276701G>A | CA487257432 | NUMB | c.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=) | |
14 | g.73276701G>C | CA390336060 | NUMB | c.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) | |
14 | g.73276701G>T | CA390336061 | NUMB | c.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) | |
14 | g.73276702C>A | CA390336064 | NUMB | c.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) | |
14 | g.73276702C= | CA2146520901 | NUMB | c.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=) | |
14 | g.73276702C>G | CA390336063 | NUMB | c.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) | |
14 | g.73276702C>T | CA262630509 | NUMB | c.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 |
14 | g.73276703A>C | CA390336065 | NUMB | c.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) | |
14 | g.73276703A>G | CA390336067 | NUMB | c.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) | |
14 | g.73276703A>T | CA390336069 | NUMB | c.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) | |
14 | g.73276704G>A | CA487257445 | NUMB | c.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 |
14 | g.73276704G>C | CA487257451 | NUMB | c.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=) | |
14 | g.73276704G>T | CA487257453 | NUMB | c.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=) | |
14 | g.73276705G>A | CA262630511 | NUMB | c.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 |
14 | g.73276705G>C | CA390336071 | NUMB | c.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) | |
14 | g.73276705G= | CA2146520902 | NUMB | c.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=) | |
14 | g.73276705G>T | CA390336073 | NUMB | c.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) | |
14 | g.73276706T>A | CA390336086 | NUMB | c.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) | |
14 | g.73276706T>C | CA390336076 | NUMB | c.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) | |
14 | g.73276706T>G | CA390336085 | NUMB | c.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) | |
14 | g.73276707G>A | CA7258639 | NUMB | c.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 |
14 | g.73276707G>C | CA487257462 | NUMB | c.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=) | |
14 | g.73276707G= | CA2146520903 | NUMB | c.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=) | |
14 | g.73276707G>T | CA487257464 | NUMB | c.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=) | |
14 | g.73276708C>A | CA390336089 | NUMB | c.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) | |
14 | g.73276708C>G | CA390336092 | NUMB | c.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) | |
14 | g.73276708C>T | CA390336095 | NUMB | c.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) | |
14 | g.73276709C>A | CA390336098 | NUMB | c.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) | |
14 | g.73276709C= | CA2146520904 | NUMB | c.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=) | |
14 | g.73276709C>G | CA390336102 | NUMB | c.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 |
14 | g.73276709C>T | CA390336104 | NUMB | c.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) | |
14 | g.73276710T>A | CA487257475 | NUMB | c.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=) | |
14 | g.73276710T>C | CA487257477 | NUMB | c.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 |
14 | g.73276710T>G | CA487257478 | NUMB | c.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=) | |
14 | g.73276710T= | CA2146520905 | NUMB | c.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=) | |
14 | g.73276711G>A | CA7258640 | NUMB | c.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 |
14 | g.73276711G>C | CA390336106 | NUMB | c.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) | |
14 | g.73276711G= | CA2146520906 | NUMB | c.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=) | |
14 | g.73276711G>T | CA390336108 | NUMB | c.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) | |
14 | g.73276712T>A | CA390336110 | NUMB | c.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) | |
14 | g.73276712T>C | CA7258641 | NUMB | c.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 |
14 | g.73276712T>G | CA390336111 | NUMB | c.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) | |
14 | g.73276712T= | CA2146520907 | NUMB | c.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=) | |
14 | g.73276713A>C | CA487257493 | NUMB | c.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=) | |
14 | g.73276713A>G | CA487257492 | NUMB | c.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=) | |
14 | g.73276713A>T | CA487257491 | NUMB | c.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=) | |
14 | g.73276714G>A | CA390336113 | NUMB | c.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) | |
14 | g.73276714G>C | CA7258642 | NUMB | c.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 |
14 | g.73276714G= | CA2146520908 | NUMB | c.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=) | |
14 | g.73276714G>T | CA390336116 | NUMB | c.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) | |
14 | g.73276715G>A | CA390336119 | NUMB | c.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 |
14 | g.73276715G>C | CA390336123 | NUMB | c.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 |
14 | g.73276715G= | CA2146520909 | NUMB | c.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=) | |
14 | g.73276715G>T | CA390336120 | NUMB | c.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) | |
14 | g.73276716A= | CA2146520910 | NUMB | c.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=) | |
14 | g.73276716A>C | CA487257499 | NUMB | c.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 |
14 | g.73276716A>G | CA487257500 | NUMB | c.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=) | |
14 | g.73276716A>T | CA487257501 | NUMB | c.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=) | |
14 | g.73276717A= | CA2146520911 | NUMB | c.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=) | |
14 | g.73276717A>C | CA7258643 | NUMB | c.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 |
14 | g.73276717A>G | CA262630519 | NUMB | c.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 |
14 | g.73276717A>T | CA390336130 | NUMB | c.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) | |
14 | g.73276718C>A | CA390336135 | NUMB | c.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) | |
14 | g.73276718C>G | CA390336137 | NUMB | c.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) | |
14 | g.73276718C>T | CA390336140 | NUMB | c.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) | |
14 | g.73276719C>A | CA390336141 | NUMB | c.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) | |
14 | g.73276719C= | CA2146520912 | NUMB | c.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=) | |
14 | g.73276719C>G | CA390336143 | NUMB | c.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 |
14 | g.73276719C>T | CA487257515 | NUMB | c.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 |
14 | g.73276720T>A | CA390336146 | NUMB | c.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) | |
14 | g.73276720T>C | CA390336147 | NUMB | c.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 |
14 | g.73276720T>G | CA390336152 | NUMB | c.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) | |
14 | g.73276720T= | CA2146520913 | NUMB | c.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=) | |
14 | g.73276721C>A | CA390336175 | NUMB | c.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) | |
14 | g.73276721C>G | CA390336166 | NUMB | c.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) | |
14 | g.73276721C>T | CA390336154 | NUMB | c.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 |
14 | g.73276722T>A | CA487257522 | NUMB | c.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=) | |
14 | g.73276722T>C | CA487257524 | NUMB | c.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 |
14 | g.73276722T>G | CA487257528 | NUMB | c.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=) | |
14 | g.73276722T= | CA2146520914 | NUMB | c.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=) | |
14 | g.73276723G>A | CA390336178 | NUMB | c.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 |
14 | g.73276723G>C | CA390336180 | NUMB | c.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 |
14 | g.73276723G= | CA2146520915 | NUMB | c.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=) | |
14 | g.73276723G>T | CA390336181 | NUMB | c.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) | |
14 | g.73276724T>A | CA390336182 | NUMB | c.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 |
14 | g.73276724T>C | CA390336183 | NUMB | c.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 |
14 | g.73276724T>G | CA390336186 | NUMB | c.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) | |
14 | g.73276724T= | CA2146520916 | NUMB | c.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=) | |
14 | g.73276725A= | CA2146520917 | NUMB | c.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=) | |
14 | g.73276725A>C | CA390336188 | NUMB | c.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) | |
14 | g.73276725A>G | CA7258644 | NUMB | c.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 |
14 | g.73276725A>T | CA390336190 | NUMB | c.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) | |
14 | g.73276725_73276726insC | CA2802119535 | NUMB | c.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) | |
14 | g.73276726T>A | CA390336191 | NUMB | c.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) | |
14 | g.73276726T>C | CA390336193 | NUMB | c.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) | |
14 | g.73276726T>G | CA390336195 | NUMB | c.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) | |
14 | g.73276727G>A | CA390336204 | NUMB | c.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) | |
14 | g.73276727G>C | CA390336203 | NUMB | c.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) | |
14 | g.73276727G>T | CA390336201 | NUMB | c.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) | |
14 | g.73276728C>A | CA390336205 | NUMB | c.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) | |
14 | g.73276728C>G | CA390336206 | NUMB | c.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) | |
14 | g.73276728C>T | CA487257554 | NUMB | c.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=) | |
14 | g.73276729del | CA964637019 | NUMB | c.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 |
14 | g.73276729C>A | CA390336208 | NUMB | c.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 |
14 | g.73276729C= | CA2146520918 | NUMB | c.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=) | |
14 | g.73276729C>G | CA390336214 | NUMB | c.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) | |
14 | g.73276729C>T | CA390336216 | NUMB | c.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 |
14 | g.73276730T>A | CA390336217 | NUMB | c.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) | |
14 | g.73276730T>C | CA390336218 | NUMB | c.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) | |
14 | g.73276730T>G | CA487257563 | NUMB | c.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=) | |
14 | g.73276731G>A | CA487257564 | NUMB | c.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=) | |
14 | g.73276731G>C | CA390336222 | NUMB | c.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) | |
14 | g.73276731G>T | CA390336224 | NUMB | c.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) | |
14 | g.73276731_73276735del | CA2802119536 | NUMB | c.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) | |
14 | g.73276732T>A | CA390336226 | NUMB | c.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) | |
14 | g.73276732T>C | CA390336227 | NUMB | c.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 |
14 | g.73276732T>G | CA390336235 | NUMB | c.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) | |
14 | g.73276733C>A | CA390336239 | NUMB | c.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) | |
14 | g.73276733C>G | CA390336244 | NUMB | c.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) | |
14 | g.73276733C>T | CA390336237 | NUMB | c.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) | |
14 | g.73276734T>A | CA487257577 | NUMB | c.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=) | |
14 | g.73276734T>C | CA487257575 | NUMB | c.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 |
14 | g.73276734T>G | CA487257576 | NUMB | c.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=) | |
14 | g.73276735G>A | CA390336246 | NUMB | c.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) | |
14 | g.73276735G>C | CA390336247 | NUMB | c.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 |
14 | g.73276735G= | CA2146520919 | NUMB | c.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=) | |
14 | g.73276735G>T | CA390336249 | NUMB | c.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) | |
14 | g.73276736C>A | CA390336257 | NUMB | c.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) | |
14 | g.73276736C>G | CA390336259 | NUMB | c.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) | |
14 | g.73276736C>T | CA390336261 | NUMB | c.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) | |
14 | g.73276737T>A | CA487257586 | NUMB | c.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=) | |
14 | g.73276737T>C | CA487257587 | NUMB | c.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=) | |
14 | g.73276737T>G | CA487257588 | NUMB | c.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=) | |
14 | g.73276738G>A | CA390336263 | NUMB | c.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 |
14 | g.73276738G>C | CA390336267 | NUMB | c.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) | |
14 | g.73276738G>T | CA390336265 | NUMB | c.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) | |
14 | g.73276739A>C | CA390336269 | NUMB | c.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) | |
14 | g.73276739A>G | CA390336270 | NUMB | c.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) | |
14 | g.73276739A>T | CA390336271 | NUMB | c.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) | |
14 | g.73276739_73276740insTAC | CA2510190638 | NUMB | c.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) | |
14 | g.73276740G>A | CA487257593 | NUMB | c.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 |
14 | g.73276740G>C | CA262630523 | NUMB | c.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 |
14 | g.73276740G= | CA2146520920 | NUMB | c.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=) | |
14 | g.73276740G>T | CA487257594 | NUMB | c.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=) | |
14 | g.73276741G>A | CA7258645 | NUMB | c.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 |
14 | g.73276741G>C | CA390336274 | NUMB | c.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) | |
14 | g.73276741G= | CA2146520921 | NUMB | c.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=) | |
14 | g.73276741G>T | CA390336272 | NUMB | c.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) | |
14 | g.73276742C>A | CA390336276 | NUMB | c.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) | |
14 | g.73276742C>G | CA390336279 | NUMB | c.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) | |
14 | g.73276742C>T | CA390336278 | NUMB | c.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) | |
14 | g.73276743C>A | CA390336281 | NUMB | c.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) | |
14 | g.73276743C= | CA2146520922 | NUMB | c.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=) | |
14 | g.73276743C>G | CA390336288 | NUMB | c.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) | |
14 | g.73276743C>T | CA7258646 | NUMB | c.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 |
14 | g.73276744A>C | CA390336291 | NUMB | c.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) | |
14 | g.73276744A>G | CA390336296 | NUMB | c.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) | |
14 | g.73276744A>T | CA390336297 | NUMB | c.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) | |
14 | g.73276745A= | CA2146520923 | NUMB | c.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=) | |
14 | g.73276745A>C | CA390336299 | NUMB | c.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 |
14 | g.73276745A>G | CA487257607 | NUMB | c.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=) | |
14 | g.73276745A>T | CA390336301 | NUMB | c.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) | |
14 | g.73276745_73276749del | CA2558465468 | NUMB | c.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) | |
14 | g.73276746C>A | CA390336305 | NUMB | c.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) | |
14 | g.73276746C>G | CA390336308 | NUMB | c.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) | |
14 | g.73276746C>T | CA487257614 | NUMB | c.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=) | |
14 | g.73276747del | CA2625566417 | NUMB | c.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 |
14 | g.73276747C>A | CA390336311 | NUMB | c.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) | |
14 | g.73276747C>G | CA390336324 | NUMB | c.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) | |
14 | g.73276747C>T | CA390336325 | NUMB | c.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) | |
14 | g.73276747_73276792dup | CA2625566421 | NUMB | c.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 |
14 | g.73276748T>A | CA390336331 | NUMB | c.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) | |
14 | g.73276748T>C | CA390336330 | NUMB | c.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) | |
14 | g.73276748T>G | CA7258647 | NUMB | c.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 |
14 | g.73276748T= | CA2146520924 | NUMB | c.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=) | |
14 | g.73276749G>A | CA7258648 | NUMB | c.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 |
14 | g.73276749G>C | CA487257618 | NUMB | c.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=) | |
14 | g.73276749G= | CA2146520925 | NUMB | c.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=) | |
14 | g.73276749G>T | CA487257620 | NUMB | c.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=) | |
14 | g.73276750C>A | CA390336337 | NUMB | c.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) | |
14 | g.73276750C= | CA2146520927 | NUMB | c.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=) | |
14 | g.73276750C>G | CA390336341 | NUMB | c.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) | |
14 | g.73276750C>T | CA7258649 | NUMB | c.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 |
14 | g.73276751del | CA2625566425 | NUMB | c.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 |
14 | g.73276750_73276753delinsCCAT | CA2146520926 | NUMB | c.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=) |